# curie_map: # BFO: http://purl.obolibrary.org/obo/BFO_ # CSP: http://purl.obolibrary.org/obo/mondo/mappings/unknown_prefix/CSP/ # DECIPHER: http://purl.obolibrary.org/obo/mondo/mappings/unknown_prefix/DECIPHER/ # DOID: http://purl.obolibrary.org/obo/DOID_ # EFO: http://www.ebi.ac.uk/efo/EFO_ # GARD: https://rarediseases.info.nih.gov/diseases/ # GTR: http://purl.obolibrary.org/obo/mondo/mappings/unknown_prefix/GTR/ # HGNC: http://identifiers.org/hgnc/ # HP: http://purl.obolibrary.org/obo/HP_ # ICD10CM: http://purl.bioontology.org/ontology/ICD10CM/ # ICD10WHO: https://icd.who.int/browse10/2019/en#/ # ICD9: http://purl.obolibrary.org/obo/mondo/mappings/unknown_prefix/ICD9/ # ICD9CM: http://purl.obolibrary.org/obo/mondo/mappings/unknown_prefix/ICD9CM/ # ICDO: http://purl.obolibrary.org/obo/mondo/mappings/unknown_prefix/ICDO/ # IDO: http://purl.obolibrary.org/obo/IDO_ # MEDGEN: http://identifiers.org/medgen/ # MFOMD: http://purl.obolibrary.org/obo/MFOMD_ # MONDO: http://purl.obolibrary.org/obo/MONDO_ # MPATH: http://purl.obolibrary.org/obo/MPATH_ # MTH: http://purl.obolibrary.org/obo/mondo/mappings/unknown_prefix/MTH/ # MedDRA: http://identifiers.org/meddra/ # NANDO: 'https://identifiers.org/NANDO:' # NCIT: http://purl.obolibrary.org/obo/NCIT_ # NDFRT: http://purl.obolibrary.org/obo/mondo/mappings/unknown_prefix/NDFRT/ # NORD: 'https://bioregistry.io/nord:' # OBI: http://purl.obolibrary.org/obo/OBI_ # OGMS: http://purl.obolibrary.org/obo/OGMS_ # OMIA: http://purl.obolibrary.org/obo/mondo/mappings/unknown_prefix/OMIA/ # OMIM: https://omim.org/entry/ # OMIMPS: https://omim.org/phenotypicSeries/PS # OMO: http://purl.obolibrary.org/obo/OMO_ # ONCOTREE: http://purl.obolibrary.org/obo/mondo/mappings/unknown_prefix/ONCOTREE/ # Orphanet: http://www.orpha.net/ORDO/Orphanet_ # PMID: http://purl.obolibrary.org/obo/mondo/mappings/unknown_prefix/PMID/ # RO: http://purl.obolibrary.org/obo/RO_ # SCDO: http://purl.obolibrary.org/obo/SCDO_ # SCTID: http://snomed.info/id/ # UMLS: http://linkedlifedata.com/resource/umls/id/ # Wikipedia: http://purl.obolibrary.org/obo/mondo/mappings/unknown_prefix/Wikipedia/ # birnlex: http://uri.neuinfo.org/nif/nifstd/birnlex_ # icd11.foundation: http://id.who.int/icd/entity/ # mesh: http://identifiers.org/mesh/ # oboInOwl: http://www.geneontology.org/formats/oboInOwl# # owl: http://www.w3.org/2002/07/owl# # rdf: http://www.w3.org/1999/02/22-rdf-syntax-ns# # rdfs: http://www.w3.org/2000/01/rdf-schema# # semapv: https://w3id.org/semapv/vocab/ # skos: http://www.w3.org/2004/02/skos/core# # sssom: https://w3id.org/sssom/ # license: https://w3id.org/sssom/license/unspecified # mapping_set_id: http://purl.obolibrary.org/obo/mondo/mappings/mondo.sssom.tsv subject_id subject_label predicate_id object_id object_label mapping_justification MONDO:0000001 disease skos:exactMatch DOID:4 disease semapv:UnspecifiedMatching MONDO:0000001 disease skos:exactMatch NCIT:C2991 Disease or Disorder semapv:UnspecifiedMatching MONDO:0000001 disease skos:exactMatch Orphanet:377788 disease semapv:UnspecifiedMatching MONDO:0000001 disease skos:exactMatch SCTID:64572001 semapv:UnspecifiedMatching MONDO:0000001 disease skos:exactMatch mesh:D004194 semapv:UnspecifiedMatching MONDO:0000004 adrenocortical insufficiency skos:exactMatch DOID:10493 adrenal cortical hypofunction semapv:UnspecifiedMatching MONDO:0000004 adrenocortical insufficiency skos:exactMatch EFO:0009491 semapv:UnspecifiedMatching MONDO:0000004 adrenocortical insufficiency skos:exactMatch MEDGEN:589758 semapv:UnspecifiedMatching MONDO:0000004 adrenocortical insufficiency skos:exactMatch NCIT:C26691 Adrenocortical Insufficiency semapv:UnspecifiedMatching MONDO:0000004 adrenocortical insufficiency skos:exactMatch SCTID:386584007 semapv:UnspecifiedMatching MONDO:0000004 adrenocortical insufficiency skos:exactMatch UMLS:C0405580 semapv:UnspecifiedMatching MONDO:0000004 adrenocortical insufficiency skos:exactMatch icd11.foundation:733056203 Adrenocortical insufficiency semapv:UnspecifiedMatching MONDO:0000004 adrenocortical insufficiency skos:exactMatch mesh:D000309 semapv:UnspecifiedMatching MONDO:0000005 alopecia, isolated skos:exactMatch OMIMPS:203655 Alopecia, isolated semapv:UnspecifiedMatching MONDO:0000009 inherited bleeding disorder, platelet-type skos:exactMatch DOID:2218 blood platelet disease semapv:UnspecifiedMatching MONDO:0000009 inherited bleeding disorder, platelet-type skos:exactMatch MEDGEN:610 semapv:UnspecifiedMatching MONDO:0000009 inherited bleeding disorder, platelet-type skos:exactMatch OMIMPS:231200 Bleeding disorder, platelet-type semapv:UnspecifiedMatching MONDO:0000009 inherited bleeding disorder, platelet-type skos:exactMatch UMLS:C0005818 semapv:UnspecifiedMatching MONDO:0000015 classic complement early component deficiency skos:exactMatch MEDGEN:226929 semapv:UnspecifiedMatching MONDO:0000015 classic complement early component deficiency skos:exactMatch SCTID:363009005 semapv:UnspecifiedMatching MONDO:0000015 classic complement early component deficiency skos:exactMatch UMLS:C1285186 semapv:UnspecifiedMatching MONDO:0000022 nocturnal enuresis skos:exactMatch MEDGEN:124355 semapv:UnspecifiedMatching MONDO:0000022 nocturnal enuresis skos:exactMatch NCIT:C118172 Nocturnal Enuresis semapv:UnspecifiedMatching MONDO:0000022 nocturnal enuresis skos:exactMatch UMLS:C0270327 semapv:UnspecifiedMatching MONDO:0000022 nocturnal enuresis skos:exactMatch icd11.foundation:1048673005 Nocturnal enuresis semapv:UnspecifiedMatching MONDO:0000022 nocturnal enuresis skos:exactMatch mesh:D053206 semapv:UnspecifiedMatching MONDO:0000023 infantile liver failure skos:exactMatch DOID:0080716 infantile liver failure syndrome semapv:UnspecifiedMatching MONDO:0000023 infantile liver failure skos:exactMatch MEDGEN:1813021 semapv:UnspecifiedMatching MONDO:0000023 infantile liver failure skos:exactMatch OMIMPS:615438 Infantile liver failure syndrome semapv:UnspecifiedMatching MONDO:0000023 infantile liver failure skos:exactMatch Orphanet:464724 Fever-associated acute infantile liver failure syndrome semapv:UnspecifiedMatching MONDO:0000023 infantile liver failure skos:exactMatch UMLS:C5681094 semapv:UnspecifiedMatching MONDO:0000030 familial sleep-related hypermotor epilepsy skos:exactMatch DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy semapv:UnspecifiedMatching MONDO:0000030 familial sleep-related hypermotor epilepsy skos:exactMatch MEDGEN:1865268 semapv:UnspecifiedMatching MONDO:0000030 familial sleep-related hypermotor epilepsy skos:exactMatch MEDGEN:777188 semapv:UnspecifiedMatching MONDO:0000030 familial sleep-related hypermotor epilepsy skos:exactMatch OMIMPS:600513 Epilepsy, nocturnal frontal lobe semapv:UnspecifiedMatching MONDO:0000030 familial sleep-related hypermotor epilepsy skos:exactMatch Orphanet:98784 Sleep-related hypermotor epilepsy semapv:UnspecifiedMatching MONDO:0000030 familial sleep-related hypermotor epilepsy skos:exactMatch SCTID:698021005 semapv:UnspecifiedMatching MONDO:0000030 familial sleep-related hypermotor epilepsy skos:exactMatch UMLS:C3696898 semapv:UnspecifiedMatching MONDO:0000030 familial sleep-related hypermotor epilepsy skos:exactMatch UMLS:C5577629 semapv:UnspecifiedMatching MONDO:0000030 familial sleep-related hypermotor epilepsy skos:exactMatch icd11.foundation:1004734747 Autosomal dominant nocturnal frontal lobe epilepsy semapv:UnspecifiedMatching MONDO:0000030 familial sleep-related hypermotor epilepsy skos:exactMatch mesh:C579932 semapv:UnspecifiedMatching MONDO:0000032 febrile seizures, familial skos:exactMatch DOID:0111297 familial febrile seizures semapv:UnspecifiedMatching MONDO:0000032 febrile seizures, familial skos:exactMatch OMIMPS:121210 Seizures, familial febrile semapv:UnspecifiedMatching MONDO:0000044 hereditary hypophosphatemic rickets skos:exactMatch OMIMPS:193100 Hypophosphatemic rickets semapv:UnspecifiedMatching MONDO:0000044 hereditary hypophosphatemic rickets skos:exactMatch Orphanet:437 Hypophosphatemic rickets semapv:UnspecifiedMatching MONDO:0000044 hereditary hypophosphatemic rickets skos:exactMatch icd11.foundation:1010293846 Hypophosphataemic rickets semapv:UnspecifiedMatching MONDO:0000045 hypothyroidism, congenital, nongoitrous skos:exactMatch OMIMPS:275200 Hypothyroidism, congenital, nongoitrous semapv:UnspecifiedMatching MONDO:0000049 obsolete invasive pneumococcal disease, recurrent isolated skos:exactMatch OMIMPS:610799 semapv:UnspecifiedMatching MONDO:0000050 isolated congenital growth hormone deficiency skos:exactMatch DOID:0060870 isolated growth hormone deficiency semapv:UnspecifiedMatching MONDO:0000050 isolated congenital growth hormone deficiency skos:exactMatch MEDGEN:1843308 semapv:UnspecifiedMatching MONDO:0000050 isolated congenital growth hormone deficiency skos:exactMatch OMIMPS:262400 Isolated growth hormone deficiency semapv:UnspecifiedMatching MONDO:0000050 isolated congenital growth hormone deficiency skos:exactMatch Orphanet:631 Non-acquired isolated growth hormone deficiency semapv:UnspecifiedMatching MONDO:0000050 isolated congenital growth hormone deficiency skos:exactMatch SCTID:2109003 semapv:UnspecifiedMatching MONDO:0000050 isolated congenital growth hormone deficiency skos:exactMatch UMLS:C5679572 semapv:UnspecifiedMatching MONDO:0000050 isolated congenital growth hormone deficiency skos:exactMatch icd11.foundation:936501166 Nonacquired isolated growth hormone deficiency semapv:UnspecifiedMatching MONDO:0000062 isolated microphthalmia skos:exactMatch DOID:0080637 isolated microphthalmia semapv:UnspecifiedMatching MONDO:0000062 isolated microphthalmia skos:exactMatch OMIMPS:251600 Microphthalmia, isolated semapv:UnspecifiedMatching MONDO:0000065 microvascular complications of diabetes, susceptibility skos:exactMatch OMIMPS:603933 Microvascular complications of diabetes semapv:UnspecifiedMatching MONDO:0000066 mitochondrial respiratory chain complex deficiency skos:exactMatch MEDGEN:1843270 semapv:UnspecifiedMatching MONDO:0000066 mitochondrial respiratory chain complex deficiency skos:exactMatch Orphanet:254846 Isolated oxidative phosphorylation complex disorder semapv:UnspecifiedMatching MONDO:0000066 mitochondrial respiratory chain complex deficiency skos:exactMatch UMLS:C5679632 semapv:UnspecifiedMatching MONDO:0000070 Mycobacterium tuberculosis, susceptibility skos:exactMatch OMIM:607948 mycobacterium tuberculosis, susceptibility to semapv:UnspecifiedMatching MONDO:0000070 Mycobacterium tuberculosis, susceptibility skos:exactMatch mesh:C536092 semapv:UnspecifiedMatching MONDO:0000078 acrocephalopolysyndactyly skos:exactMatch MEDGEN:673840 semapv:UnspecifiedMatching MONDO:0000078 acrocephalopolysyndactyly skos:exactMatch SCTID:205260006 semapv:UnspecifiedMatching MONDO:0000078 acrocephalopolysyndactyly skos:exactMatch UMLS:C0687154 semapv:UnspecifiedMatching MONDO:0000079 nephrolithiasis/osteoporosis, hypophosphatemic skos:exactMatch DOID:0080655 hypophosphatemic nephrolithiasis/osteoporosis semapv:UnspecifiedMatching MONDO:0000079 nephrolithiasis/osteoporosis, hypophosphatemic skos:exactMatch OMIMPS:612286 Nephrolithiasis/osteoporosis, hypophosphatemic semapv:UnspecifiedMatching MONDO:0000082 pelvic organ prolapse skos:exactMatch EFO:0004710 semapv:UnspecifiedMatching MONDO:0000082 pelvic organ prolapse skos:exactMatch MEDGEN:209090 semapv:UnspecifiedMatching MONDO:0000082 pelvic organ prolapse skos:exactMatch SCTID:237113009 semapv:UnspecifiedMatching MONDO:0000082 pelvic organ prolapse skos:exactMatch UMLS:C0877015 semapv:UnspecifiedMatching MONDO:0000082 pelvic organ prolapse skos:exactMatch icd11.foundation:148580117 Pelvic organ prolapse semapv:UnspecifiedMatching MONDO:0000082 pelvic organ prolapse skos:exactMatch mesh:D056887 semapv:UnspecifiedMatching MONDO:0000087 polymicrogyria skos:exactMatch DOID:0080918 polymicrogyria semapv:UnspecifiedMatching MONDO:0000087 polymicrogyria skos:exactMatch MEDGEN:78605 semapv:UnspecifiedMatching MONDO:0000087 polymicrogyria skos:exactMatch NCIT:C116936 Polymicrogyria semapv:UnspecifiedMatching MONDO:0000087 polymicrogyria skos:exactMatch Orphanet:35981 Polymicrogyria semapv:UnspecifiedMatching MONDO:0000087 polymicrogyria skos:exactMatch SCTID:4945003 semapv:UnspecifiedMatching MONDO:0000087 polymicrogyria skos:exactMatch UMLS:C0266464 semapv:UnspecifiedMatching MONDO:0000087 polymicrogyria skos:exactMatch icd11.foundation:2081858551 Polymicrogyria semapv:UnspecifiedMatching MONDO:0000087 polymicrogyria skos:exactMatch mesh:D065706 semapv:UnspecifiedMatching MONDO:0000088 precocious puberty skos:exactMatch ICD10CM:E30.1 Precocious puberty semapv:UnspecifiedMatching MONDO:0000088 precocious puberty skos:exactMatch MEDGEN:18752 semapv:UnspecifiedMatching MONDO:0000088 precocious puberty skos:exactMatch NCIT:C79704 Precocious Puberty semapv:UnspecifiedMatching MONDO:0000088 precocious puberty skos:exactMatch Orphanet:95708 Rare precocious puberty semapv:UnspecifiedMatching MONDO:0000088 precocious puberty skos:exactMatch SCTID:400179000 semapv:UnspecifiedMatching MONDO:0000088 precocious puberty skos:exactMatch UMLS:C0034013 semapv:UnspecifiedMatching MONDO:0000088 precocious puberty skos:exactMatch mesh:D011629 semapv:UnspecifiedMatching MONDO:0000090 progressive external ophthalmoplegia with mitochondrial DNA deletions skos:exactMatch OMIMPS:157640 Progressive external ophthalmoplegia with mtDNA deletions semapv:UnspecifiedMatching MONDO:0000104 anemia, hypochromic microcytic with iron overload skos:exactMatch MEDGEN:388759 semapv:UnspecifiedMatching MONDO:0000104 anemia, hypochromic microcytic with iron overload skos:exactMatch OMIMPS:206100 Anemia, hypochromic microcytic, with iron overload semapv:UnspecifiedMatching MONDO:0000104 anemia, hypochromic microcytic with iron overload skos:exactMatch UMLS:C2673913 semapv:UnspecifiedMatching MONDO:0000104 anemia, hypochromic microcytic with iron overload skos:exactMatch mesh:C567144 semapv:UnspecifiedMatching MONDO:0000105 anemia, nonspherocytic hemolytic skos:exactMatch MEDGEN:871250 semapv:UnspecifiedMatching MONDO:0000105 anemia, nonspherocytic hemolytic skos:exactMatch UMLS:C4025735 semapv:UnspecifiedMatching MONDO:0000107 auriculocondylar syndrome skos:exactMatch MEDGEN:355953 semapv:UnspecifiedMatching MONDO:0000107 auriculocondylar syndrome skos:exactMatch OMIMPS:602483 Auriculocondylar syndrome semapv:UnspecifiedMatching MONDO:0000107 auriculocondylar syndrome skos:exactMatch Orphanet:137888 Auriculocondylar syndrome semapv:UnspecifiedMatching MONDO:0000107 auriculocondylar syndrome skos:exactMatch SCTID:702443003 semapv:UnspecifiedMatching MONDO:0000107 auriculocondylar syndrome skos:exactMatch UMLS:C1865295 semapv:UnspecifiedMatching MONDO:0000107 auriculocondylar syndrome skos:exactMatch icd11.foundation:1545895796 Auriculo-condylar syndrome semapv:UnspecifiedMatching MONDO:0000107 auriculocondylar syndrome skos:exactMatch mesh:C538270 semapv:UnspecifiedMatching MONDO:0000108 bacteremia, susceptibility skos:exactMatch MEDGEN:482276 semapv:UnspecifiedMatching MONDO:0000108 bacteremia, susceptibility skos:exactMatch UMLS:C3280646 semapv:UnspecifiedMatching MONDO:0000110 bifid nose skos:exactMatch MEDGEN:66379 semapv:UnspecifiedMatching MONDO:0000110 bifid nose skos:exactMatch Orphanet:2695 Bifid nose semapv:UnspecifiedMatching MONDO:0000110 bifid nose skos:exactMatch UMLS:C0221363 semapv:UnspecifiedMatching MONDO:0000110 bifid nose skos:exactMatch icd11.foundation:1824850646 Bifid nose semapv:UnspecifiedMatching MONDO:0000110 bifid nose skos:exactMatch mesh:C535441 semapv:UnspecifiedMatching MONDO:0000115 Chiari malformation skos:exactMatch MEDGEN:2065 semapv:UnspecifiedMatching MONDO:0000115 Chiari malformation skos:exactMatch NCIT:C84570 Arnold-Chiari Malformation semapv:UnspecifiedMatching MONDO:0000115 Chiari malformation skos:exactMatch SCTID:253184003 semapv:UnspecifiedMatching MONDO:0000115 Chiari malformation skos:exactMatch UMLS:C0003803 semapv:UnspecifiedMatching MONDO:0000115 Chiari malformation skos:exactMatch mesh:D001139 semapv:UnspecifiedMatching MONDO:0000118 reticulate pigment disorder skos:exactMatch OMIMPS:179850 Reticulate pigment disorders semapv:UnspecifiedMatching MONDO:0000127 geleophysic dysplasia skos:exactMatch DOID:0111724 geleophysic dysplasia semapv:UnspecifiedMatching MONDO:0000127 geleophysic dysplasia skos:exactMatch MEDGEN:483679 semapv:UnspecifiedMatching MONDO:0000127 geleophysic dysplasia skos:exactMatch OMIMPS:231050 Geleophysic dysplasia semapv:UnspecifiedMatching MONDO:0000127 geleophysic dysplasia skos:exactMatch Orphanet:2623 Geleophysic dysplasia semapv:UnspecifiedMatching MONDO:0000127 geleophysic dysplasia skos:exactMatch SCTID:28557005 semapv:UnspecifiedMatching MONDO:0000127 geleophysic dysplasia skos:exactMatch UMLS:C3489726 semapv:UnspecifiedMatching MONDO:0000127 geleophysic dysplasia skos:exactMatch icd11.foundation:518828851 Geleophysic dysplasia semapv:UnspecifiedMatching MONDO:0000128 giant axonal neuropathy skos:exactMatch MEDGEN:1684765 semapv:UnspecifiedMatching MONDO:0000128 giant axonal neuropathy skos:exactMatch NCIT:C84728 Giant Axonal Neuropathy semapv:UnspecifiedMatching MONDO:0000128 giant axonal neuropathy skos:exactMatch OMIMPS:256850 Giant axonal neuropathy semapv:UnspecifiedMatching MONDO:0000128 giant axonal neuropathy skos:exactMatch SCTID:128207002 semapv:UnspecifiedMatching MONDO:0000128 giant axonal neuropathy skos:exactMatch UMLS:C5200933 semapv:UnspecifiedMatching MONDO:0000128 giant axonal neuropathy skos:exactMatch icd11.foundation:1848636316 Giant axonal neuropathy semapv:UnspecifiedMatching MONDO:0000128 giant axonal neuropathy skos:exactMatch mesh:D056768 semapv:UnspecifiedMatching MONDO:0000129 glutaric aciduria skos:exactMatch MEDGEN:75695 semapv:UnspecifiedMatching MONDO:0000129 glutaric aciduria skos:exactMatch SCTID:28987007 semapv:UnspecifiedMatching MONDO:0000129 glutaric aciduria skos:exactMatch UMLS:C0268594 semapv:UnspecifiedMatching MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome skos:exactMatch DOID:0090007 immunodeficiency-centromeric instability-facial anomalies syndrome semapv:UnspecifiedMatching MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome skos:exactMatch MEDGEN:140770 semapv:UnspecifiedMatching MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome skos:exactMatch OMIMPS:242860 Immunodeficiency-centromeric instability-facial anomalies semapv:UnspecifiedMatching MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome skos:exactMatch Orphanet:2268 ICF syndrome semapv:UnspecifiedMatching MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome skos:exactMatch SCTID:234633000 semapv:UnspecifiedMatching MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome skos:exactMatch UMLS:C0398788 semapv:UnspecifiedMatching MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome skos:exactMatch mesh:C537362 semapv:UnspecifiedMatching MONDO:0000136 keratosis follicularis spinulosa decalvans skos:exactMatch DOID:0080753 keratosis follicularis spinulosa decalvans semapv:UnspecifiedMatching MONDO:0000136 keratosis follicularis spinulosa decalvans skos:exactMatch MEDGEN:83355 semapv:UnspecifiedMatching MONDO:0000136 keratosis follicularis spinulosa decalvans skos:exactMatch Orphanet:2340 Keratosis follicularis spinulosa decalvans semapv:UnspecifiedMatching MONDO:0000136 keratosis follicularis spinulosa decalvans skos:exactMatch SCTID:238626006 semapv:UnspecifiedMatching MONDO:0000136 keratosis follicularis spinulosa decalvans skos:exactMatch UMLS:C0343057 semapv:UnspecifiedMatching MONDO:0000136 keratosis follicularis spinulosa decalvans skos:exactMatch icd11.foundation:303213910 Keratosis follicularis spinulosa decalvans semapv:UnspecifiedMatching MONDO:0000137 leukoencephalopathy, megalencephalic skos:exactMatch OMIMPS:604004 Leukoencephalopathy, megalencephalic semapv:UnspecifiedMatching MONDO:0000138 metaphyseal chondrodysplasia skos:exactMatch MEDGEN:120528 semapv:UnspecifiedMatching MONDO:0000138 metaphyseal chondrodysplasia skos:exactMatch SCTID:28681006 semapv:UnspecifiedMatching MONDO:0000138 metaphyseal chondrodysplasia skos:exactMatch UMLS:C0265290 semapv:UnspecifiedMatching MONDO:0000141 mosaic variegated aneuploidy syndrome skos:exactMatch DOID:0080688 mosaic variegated aneuploidy syndrome semapv:UnspecifiedMatching MONDO:0000141 mosaic variegated aneuploidy syndrome skos:exactMatch MEDGEN:1641418 semapv:UnspecifiedMatching MONDO:0000141 mosaic variegated aneuploidy syndrome skos:exactMatch OMIMPS:257300 Mosaic variegated aneuploidy syndrome semapv:UnspecifiedMatching MONDO:0000141 mosaic variegated aneuploidy syndrome skos:exactMatch Orphanet:1052 Mosaic variegated aneuploidy syndrome semapv:UnspecifiedMatching MONDO:0000141 mosaic variegated aneuploidy syndrome skos:exactMatch SCTID:700056005 semapv:UnspecifiedMatching MONDO:0000141 mosaic variegated aneuploidy syndrome skos:exactMatch UMLS:C4551972 semapv:UnspecifiedMatching MONDO:0000141 mosaic variegated aneuploidy syndrome skos:exactMatch icd11.foundation:398235351 Mosaic variegated aneuploidy syndrome semapv:UnspecifiedMatching MONDO:0000141 mosaic variegated aneuploidy syndrome skos:exactMatch mesh:C536987 semapv:UnspecifiedMatching MONDO:0000144 pregnancy loss, recurrent, susceptibility skos:exactMatch OMIMPS:614389 Pregnancy loss, recurrent semapv:UnspecifiedMatching MONDO:0000147 polyposis skos:exactMatch MEDGEN:137722 semapv:UnspecifiedMatching MONDO:0000147 polyposis skos:exactMatch NCIT:C4089 Polyposis semapv:UnspecifiedMatching MONDO:0000147 polyposis skos:exactMatch UMLS:C0334108 semapv:UnspecifiedMatching MONDO:0000148 pulmonary fibrosis and/or bone marrow failure, telomere-related skos:exactMatch OMIMPS:614742 Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related semapv:UnspecifiedMatching MONDO:0000151 symphalangism skos:exactMatch MEDGEN:1846284 semapv:UnspecifiedMatching MONDO:0000151 symphalangism skos:exactMatch SCTID:253975004 semapv:UnspecifiedMatching MONDO:0000151 symphalangism skos:exactMatch UMLS:C5848178 semapv:UnspecifiedMatching MONDO:0000152 thiamine-responsive dysfunction syndrome skos:exactMatch OMIMPS:249270 Thiamine-responsive dysfunction syndrome semapv:UnspecifiedMatching MONDO:0000153 transposition of the great arteries skos:exactMatch MEDGEN:21245 semapv:UnspecifiedMatching MONDO:0000153 transposition of the great arteries skos:exactMatch NCIT:C84742 Transposition of Great Vessels semapv:UnspecifiedMatching MONDO:0000153 transposition of the great arteries skos:exactMatch Orphanet:216675 Transposition of the great arteries semapv:UnspecifiedMatching MONDO:0000153 transposition of the great arteries skos:exactMatch UMLS:C0040761 semapv:UnspecifiedMatching MONDO:0000153 transposition of the great arteries skos:exactMatch icd11.foundation:429190257 Transposition of the great arteries semapv:UnspecifiedMatching MONDO:0000153 transposition of the great arteries skos:exactMatch mesh:D014188 semapv:UnspecifiedMatching MONDO:0000156 trigonocephaly skos:exactMatch MEDGEN:82713 semapv:UnspecifiedMatching MONDO:0000156 trigonocephaly skos:exactMatch SCTID:28740008 semapv:UnspecifiedMatching MONDO:0000156 trigonocephaly skos:exactMatch UMLS:C0265535 semapv:UnspecifiedMatching MONDO:0000156 trigonocephaly skos:exactMatch icd11.foundation:20816218 Trigonocephaly semapv:UnspecifiedMatching MONDO:0000158 developmental dysplasia of the hip skos:exactMatch DOID:0060930 developmental dysplasia of the hip semapv:UnspecifiedMatching MONDO:0000158 developmental dysplasia of the hip skos:exactMatch EFO:1000648 semapv:UnspecifiedMatching MONDO:0000158 developmental dysplasia of the hip skos:exactMatch MEDGEN:1640560 semapv:UnspecifiedMatching MONDO:0000158 developmental dysplasia of the hip skos:exactMatch OMIMPS:142700 Developmental dysplasia of the hip semapv:UnspecifiedMatching MONDO:0000158 developmental dysplasia of the hip skos:exactMatch SCTID:52781008 semapv:UnspecifiedMatching MONDO:0000158 developmental dysplasia of the hip skos:exactMatch UMLS:C4551649 semapv:UnspecifiedMatching MONDO:0000158 developmental dysplasia of the hip skos:exactMatch mesh:D000082602 semapv:UnspecifiedMatching MONDO:0000159 bone marrow failure syndrome skos:exactMatch MEDGEN:419754 semapv:UnspecifiedMatching MONDO:0000159 bone marrow failure syndrome skos:exactMatch NCIT:C165614 Bone Marrow Failure Syndrome semapv:UnspecifiedMatching MONDO:0000159 bone marrow failure syndrome skos:exactMatch OMIMPS:614675 Bone marrow failure syndrome semapv:UnspecifiedMatching MONDO:0000159 bone marrow failure syndrome skos:exactMatch UMLS:C2931245 semapv:UnspecifiedMatching MONDO:0000159 bone marrow failure syndrome skos:exactMatch mesh:C536572 semapv:UnspecifiedMatching MONDO:0000160 epilepsy, familial adult myoclonic skos:exactMatch DOID:0111689 familial adult myoclonic epilepsy semapv:UnspecifiedMatching MONDO:0000160 epilepsy, familial adult myoclonic skos:exactMatch OMIMPS:601068 Epilepsy, familial adult myoclonic semapv:UnspecifiedMatching MONDO:0000166 encephalopathy, acute, infection-induced skos:exactMatch OMIMPS:610551 Encephalopathy/encephalitis, acute, infection-induced semapv:UnspecifiedMatching MONDO:0000169 obsolete microphthalmia, isolated, with cataract skos:exactMatch OMIMPS:156850 semapv:UnspecifiedMatching MONDO:0000170 microphthalmia, isolated, with coloboma skos:exactMatch MEDGEN:444071 semapv:UnspecifiedMatching MONDO:0000170 microphthalmia, isolated, with coloboma skos:exactMatch OMIMPS:300345 Microphthalmia, isolated, with coloboma semapv:UnspecifiedMatching MONDO:0000170 microphthalmia, isolated, with coloboma skos:exactMatch Orphanet:98938 Colobomatous microphthalmia semapv:UnspecifiedMatching MONDO:0000170 microphthalmia, isolated, with coloboma skos:exactMatch UMLS:C2931500 semapv:UnspecifiedMatching MONDO:0000170 microphthalmia, isolated, with coloboma skos:exactMatch icd11.foundation:1208828500 Colobomatous microphthalmia semapv:UnspecifiedMatching MONDO:0000170 microphthalmia, isolated, with coloboma skos:exactMatch mesh:C537463 semapv:UnspecifiedMatching MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A skos:exactMatch DOID:0050560 Walker-Warburg syndrome semapv:UnspecifiedMatching MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A skos:exactMatch MEDGEN:75553 semapv:UnspecifiedMatching MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A skos:exactMatch NCIT:C99109 Walker-Warburg Syndrome semapv:UnspecifiedMatching MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A skos:exactMatch OMIMPS:236670 Muscular dystrophy-dystroglycanopathy, type A semapv:UnspecifiedMatching MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A skos:exactMatch Orphanet:899 Walker-Warburg syndrome semapv:UnspecifiedMatching MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A skos:exactMatch SCTID:111504002 semapv:UnspecifiedMatching MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A skos:exactMatch UMLS:C0265221 semapv:UnspecifiedMatching MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A skos:exactMatch mesh:D058494 semapv:UnspecifiedMatching MONDO:0000172 muscular dystrophy-dystroglycanopathy, type B skos:exactMatch DOID:0112375 muscular dystrophy-dystroglycanopathy type B semapv:UnspecifiedMatching MONDO:0000172 muscular dystrophy-dystroglycanopathy, type B skos:exactMatch OMIMPS:613155 Muscular dystrophy-dystroglycanopathy, type B semapv:UnspecifiedMatching MONDO:0000173 muscular dystrophy-dystroglycanopathy, type C skos:exactMatch OMIMPS:609308 Muscular dystrophy-dystroglycanopathy, type C semapv:UnspecifiedMatching MONDO:0000179 Neu-Laxova syndrome skos:exactMatch MEDGEN:78537 semapv:UnspecifiedMatching MONDO:0000179 Neu-Laxova syndrome skos:exactMatch OMIMPS:256520 Neu-Laxova syndrome semapv:UnspecifiedMatching MONDO:0000179 Neu-Laxova syndrome skos:exactMatch Orphanet:2671 Neu-Laxova syndrome semapv:UnspecifiedMatching MONDO:0000179 Neu-Laxova syndrome skos:exactMatch SCTID:77817004 semapv:UnspecifiedMatching MONDO:0000179 Neu-Laxova syndrome skos:exactMatch UMLS:C0265218 semapv:UnspecifiedMatching MONDO:0000179 Neu-Laxova syndrome skos:exactMatch icd11.foundation:893358230 Neu-Laxova syndrome semapv:UnspecifiedMatching MONDO:0000179 Neu-Laxova syndrome skos:exactMatch mesh:C536405 semapv:UnspecifiedMatching MONDO:0000181 microcephaly and chorioretinopathy skos:exactMatch OMIMPS:251270 Microcephaly and chorioretinopathy semapv:UnspecifiedMatching MONDO:0000182 congenital myasthenic syndrome with tubular aggregates skos:exactMatch OMIMPS:610542 Myasthenic syndrome, congenital, with tubular aggregates semapv:UnspecifiedMatching MONDO:0000188 GLUT1 deficiency syndrome skos:exactMatch DOID:0070560 glucose transporter type 1 deficiency syndrome semapv:UnspecifiedMatching MONDO:0000188 GLUT1 deficiency syndrome skos:exactMatch MEDGEN:337833 semapv:UnspecifiedMatching MONDO:0000188 GLUT1 deficiency syndrome skos:exactMatch OMIMPS:606777 Glut1 deficiency syndrome semapv:UnspecifiedMatching MONDO:0000188 GLUT1 deficiency syndrome skos:exactMatch UMLS:C1847501 semapv:UnspecifiedMatching MONDO:0000190 ventricular fibrillation skos:exactMatch EFO:0004287 semapv:UnspecifiedMatching MONDO:0000190 ventricular fibrillation skos:exactMatch ICD10CM:I49.01 Ventricular fibrillation semapv:UnspecifiedMatching MONDO:0000190 ventricular fibrillation skos:exactMatch MEDGEN:21844 semapv:UnspecifiedMatching MONDO:0000190 ventricular fibrillation skos:exactMatch NCIT:C50799 Ventricular Fibrillation semapv:UnspecifiedMatching MONDO:0000190 ventricular fibrillation skos:exactMatch SCTID:71908006 semapv:UnspecifiedMatching MONDO:0000190 ventricular fibrillation skos:exactMatch UMLS:C0042510 semapv:UnspecifiedMatching MONDO:0000190 ventricular fibrillation skos:exactMatch icd11.foundation:1662472992 Ventricular fibrillation semapv:UnspecifiedMatching MONDO:0000190 ventricular fibrillation skos:exactMatch mesh:D014693 semapv:UnspecifiedMatching MONDO:0000192 polyglucosan body myopathy skos:exactMatch OMIMPS:615895 Polyglucosan body myopathy semapv:UnspecifiedMatching MONDO:0000193 cortisone reductase deficiency skos:exactMatch DOID:0090139 cortisone reductase deficiency semapv:UnspecifiedMatching MONDO:0000193 cortisone reductase deficiency skos:exactMatch MEDGEN:266223 semapv:UnspecifiedMatching MONDO:0000193 cortisone reductase deficiency skos:exactMatch OMIMPS:604931 Cortisone reductase deficiency semapv:UnspecifiedMatching MONDO:0000193 cortisone reductase deficiency skos:exactMatch Orphanet:168588 Hyperandrogenism due to cortisone reductase deficiency semapv:UnspecifiedMatching MONDO:0000193 cortisone reductase deficiency skos:exactMatch SCTID:124138004 semapv:UnspecifiedMatching MONDO:0000193 cortisone reductase deficiency skos:exactMatch UMLS:C1291245 semapv:UnspecifiedMatching MONDO:0000193 cortisone reductase deficiency skos:exactMatch mesh:C536447 semapv:UnspecifiedMatching MONDO:0000200 Zimmermann-Laband syndrome skos:exactMatch MEDGEN:208656 semapv:UnspecifiedMatching MONDO:0000200 Zimmermann-Laband syndrome skos:exactMatch OMIMPS:135500 Zimmermann-Laband syndrome semapv:UnspecifiedMatching MONDO:0000200 Zimmermann-Laband syndrome skos:exactMatch Orphanet:3473 Zimmermann-Laband syndrome semapv:UnspecifiedMatching MONDO:0000200 Zimmermann-Laband syndrome skos:exactMatch SCTID:699447001 semapv:UnspecifiedMatching MONDO:0000200 Zimmermann-Laband syndrome skos:exactMatch UMLS:C0796013 semapv:UnspecifiedMatching MONDO:0000200 Zimmermann-Laband syndrome skos:exactMatch icd11.foundation:8285962 Zimmermann-Laband syndrome semapv:UnspecifiedMatching MONDO:0000200 Zimmermann-Laband syndrome skos:exactMatch mesh:C536725 semapv:UnspecifiedMatching MONDO:0000204 obsolete skin creases, congenital symmetric circumferential skos:exactMatch OMIMPS:156610 Skin creases, congenital symmetric circumferential semapv:UnspecifiedMatching MONDO:0000208 microcephaly, short stature, and impaired glucose metabolism 1 skos:exactMatch MEDGEN:863434 semapv:UnspecifiedMatching MONDO:0000208 microcephaly, short stature, and impaired glucose metabolism 1 skos:exactMatch OMIM:616033 microcephaly, short stature, and impaired glucose metabolism 1 semapv:UnspecifiedMatching MONDO:0000208 microcephaly, short stature, and impaired glucose metabolism 1 skos:exactMatch UMLS:C4014997 semapv:UnspecifiedMatching MONDO:0000209 prenatal-onset spinal muscular atrophy with congenital bone fractures skos:exactMatch MEDGEN:1798941 semapv:UnspecifiedMatching MONDO:0000209 prenatal-onset spinal muscular atrophy with congenital bone fractures skos:exactMatch OMIMPS:616866 Spinal muscular atrophy with congenital bone fractures semapv:UnspecifiedMatching MONDO:0000209 prenatal-onset spinal muscular atrophy with congenital bone fractures skos:exactMatch Orphanet:486811 Prenatal-onset spinal muscular atrophy with congenital bone fractures semapv:UnspecifiedMatching MONDO:0000209 prenatal-onset spinal muscular atrophy with congenital bone fractures skos:exactMatch UMLS:C5567518 semapv:UnspecifiedMatching MONDO:0000210 thiopurine metabolic disease skos:exactMatch MEDGEN:419361 semapv:UnspecifiedMatching MONDO:0000210 thiopurine metabolic disease skos:exactMatch OMIMPS:610460 Thiopurines, poor metabolism of semapv:UnspecifiedMatching MONDO:0000210 thiopurine metabolic disease skos:exactMatch UMLS:C2931223 semapv:UnspecifiedMatching MONDO:0000211 striatal degeneration, autosomal dominant skos:exactMatch MEDGEN:322971 semapv:UnspecifiedMatching MONDO:0000211 striatal degeneration, autosomal dominant skos:exactMatch OMIMPS:609161 Striatal degeneration, autosomal dominant semapv:UnspecifiedMatching MONDO:0000211 striatal degeneration, autosomal dominant skos:exactMatch Orphanet:228169 Autosomal dominant striatal neurodegeneration semapv:UnspecifiedMatching MONDO:0000211 striatal degeneration, autosomal dominant skos:exactMatch UMLS:C1836694 semapv:UnspecifiedMatching MONDO:0000211 striatal degeneration, autosomal dominant skos:exactMatch mesh:C563783 semapv:UnspecifiedMatching MONDO:0000212 hypercalcemia, infantile skos:exactMatch MEDGEN:1380840 semapv:UnspecifiedMatching MONDO:0000212 hypercalcemia, infantile skos:exactMatch NCIT:C129734 Autosomal Recessive Infantile Hypercalcemia semapv:UnspecifiedMatching MONDO:0000212 hypercalcemia, infantile skos:exactMatch OMIMPS:143880 Hypercalcemia, infantile semapv:UnspecifiedMatching MONDO:0000212 hypercalcemia, infantile skos:exactMatch Orphanet:300547 Autosomal recessive infantile hypercalcemia semapv:UnspecifiedMatching MONDO:0000212 hypercalcemia, infantile skos:exactMatch SCTID:276645004 semapv:UnspecifiedMatching MONDO:0000212 hypercalcemia, infantile skos:exactMatch SCTID:34225008 semapv:UnspecifiedMatching MONDO:0000212 hypercalcemia, infantile skos:exactMatch UMLS:C4329374 semapv:UnspecifiedMatching MONDO:0000212 hypercalcemia, infantile skos:exactMatch mesh:C562999 semapv:UnspecifiedMatching MONDO:0000213 autoimmune disease, multisystem, infantile-onset skos:exactMatch DOID:0061159 infantile onset multisystem autoimmune disease semapv:UnspecifiedMatching MONDO:0000213 autoimmune disease, multisystem, infantile-onset skos:exactMatch OMIMPS:615952 Autoimmune disease, multisystem, infantile-onset semapv:UnspecifiedMatching MONDO:0000214 hypermanganesemia with dystonia skos:exactMatch DOID:0080535 hypermanganesemia with dystonia semapv:UnspecifiedMatching MONDO:0000214 hypermanganesemia with dystonia skos:exactMatch MEDGEN:1632594 semapv:UnspecifiedMatching MONDO:0000214 hypermanganesemia with dystonia skos:exactMatch OMIMPS:613280 Hypermanganesemia with dystonia semapv:UnspecifiedMatching MONDO:0000214 hypermanganesemia with dystonia skos:exactMatch SCTID:768553002 semapv:UnspecifiedMatching MONDO:0000214 hypermanganesemia with dystonia skos:exactMatch UMLS:C4708509 semapv:UnspecifiedMatching MONDO:0000218 obsolete preimplantation embryonic lethality skos:exactMatch OMIMPS:616814 semapv:UnspecifiedMatching MONDO:0000222 seminal vesicle acute gonorrhea skos:exactMatch DOID:0050004 seminal vesicle acute gonorrhea semapv:UnspecifiedMatching MONDO:0000222 seminal vesicle acute gonorrhea skos:exactMatch MEDGEN:509196 semapv:UnspecifiedMatching MONDO:0000222 seminal vesicle acute gonorrhea skos:exactMatch SCTID:65049003 semapv:UnspecifiedMatching MONDO:0000222 seminal vesicle acute gonorrhea skos:exactMatch UMLS:C0153194 semapv:UnspecifiedMatching MONDO:0000222 seminal vesicle acute gonorrhea skos:exactMatch icd11.foundation:477968215 Acute gonococcal seminal vesiculitis semapv:UnspecifiedMatching MONDO:0000225 human monocytic ehrlichiosis skos:exactMatch DOID:0050026 human monocytic ehrlichiosis semapv:UnspecifiedMatching MONDO:0000225 human monocytic ehrlichiosis skos:exactMatch MEDGEN:1826179 semapv:UnspecifiedMatching MONDO:0000225 human monocytic ehrlichiosis skos:exactMatch SCTID:359747000 semapv:UnspecifiedMatching MONDO:0000225 human monocytic ehrlichiosis skos:exactMatch UMLS:C3844799 semapv:UnspecifiedMatching MONDO:0000226 mineral metabolism disease skos:exactMatch EFO:0009556 semapv:UnspecifiedMatching MONDO:0000226 mineral metabolism disease skos:exactMatch ICD10CM:E83 Disorders of mineral metabolism semapv:UnspecifiedMatching MONDO:0000226 mineral metabolism disease skos:exactMatch MEDGEN:509562 semapv:UnspecifiedMatching MONDO:0000226 mineral metabolism disease skos:exactMatch SCTID:45744005 semapv:UnspecifiedMatching MONDO:0000226 mineral metabolism disease skos:exactMatch UMLS:C0154260 semapv:UnspecifiedMatching MONDO:0000227 African tick-bite fever skos:exactMatch DOID:0050035 African tick-bite fever semapv:UnspecifiedMatching MONDO:0000227 African tick-bite fever skos:exactMatch MEDGEN:728968 semapv:UnspecifiedMatching MONDO:0000227 African tick-bite fever skos:exactMatch SCTID:415561000 semapv:UnspecifiedMatching MONDO:0000227 African tick-bite fever skos:exactMatch UMLS:C1320317 semapv:UnspecifiedMatching MONDO:0000229 Indian tick typhus skos:exactMatch DOID:0050042 Indian tick typhus semapv:UnspecifiedMatching MONDO:0000229 Indian tick typhus skos:exactMatch MEDGEN:1843392 semapv:UnspecifiedMatching MONDO:0000229 Indian tick typhus skos:exactMatch UMLS:C0343768 semapv:UnspecifiedMatching MONDO:0000230 Israeli tick typhus skos:exactMatch DOID:0050043 Israeli tick typhus semapv:UnspecifiedMatching MONDO:0000231 Far eastern spotted fever skos:exactMatch DOID:0050046 Far Eastern spotted fever semapv:UnspecifiedMatching MONDO:0000231 Far eastern spotted fever skos:exactMatch MEDGEN:759467 semapv:UnspecifiedMatching MONDO:0000231 Far eastern spotted fever skos:exactMatch SCTID:472822008 semapv:UnspecifiedMatching MONDO:0000231 Far eastern spotted fever skos:exactMatch UMLS:C3532354 semapv:UnspecifiedMatching MONDO:0000232 Flinders island spotted fever skos:exactMatch DOID:0050047 Flinders Island spotted fever semapv:UnspecifiedMatching MONDO:0000232 Flinders island spotted fever skos:exactMatch MEDGEN:1375989 semapv:UnspecifiedMatching MONDO:0000232 Flinders island spotted fever skos:exactMatch UMLS:C4505102 semapv:UnspecifiedMatching MONDO:0000233 Japanese spotted fever skos:exactMatch DOID:0050050 Japanese spotted fever semapv:UnspecifiedMatching MONDO:0000233 Japanese spotted fever skos:exactMatch MEDGEN:1371298 semapv:UnspecifiedMatching MONDO:0000233 Japanese spotted fever skos:exactMatch UMLS:C2108396 semapv:UnspecifiedMatching MONDO:0000234 Rickettsia parkeri spotted fever skos:exactMatch DOID:0050051 Rickettsia parkeri spotted fever semapv:UnspecifiedMatching MONDO:0000236 oropharyngeal anthrax skos:exactMatch DOID:0050059 oropharyngeal anthrax semapv:UnspecifiedMatching MONDO:0000238 obsolete pestis minor skos:exactMatch DOID:0050068 obsolete pestis minor semapv:UnspecifiedMatching MONDO:0000238 obsolete pestis minor skos:exactMatch SCTID:186287003 semapv:UnspecifiedMatching MONDO:0000239 adiaspiromycosis skos:exactMatch DOID:0050072 adiaspiromycosis semapv:UnspecifiedMatching MONDO:0000239 adiaspiromycosis skos:exactMatch MEDGEN:537148 semapv:UnspecifiedMatching MONDO:0000239 adiaspiromycosis skos:exactMatch SCTID:23892008 semapv:UnspecifiedMatching MONDO:0000239 adiaspiromycosis skos:exactMatch UMLS:C0259737 semapv:UnspecifiedMatching MONDO:0000239 adiaspiromycosis skos:exactMatch mesh:C000656784 semapv:UnspecifiedMatching MONDO:0000240 invasive aspergillosis skos:exactMatch DOID:0050073 invasive aspergillosis semapv:UnspecifiedMatching MONDO:0000240 invasive aspergillosis skos:exactMatch MEDGEN:922866 semapv:UnspecifiedMatching MONDO:0000240 invasive aspergillosis skos:exactMatch SCTID:721798004 semapv:UnspecifiedMatching MONDO:0000240 invasive aspergillosis skos:exactMatch UMLS:C0238013 semapv:UnspecifiedMatching MONDO:0000240 invasive aspergillosis skos:exactMatch icd11.foundation:1314810340 Invasive aspergillosis semapv:UnspecifiedMatching MONDO:0000241 Keshan disease skos:exactMatch DOID:0050083 Keshan disease semapv:UnspecifiedMatching MONDO:0000241 Keshan disease skos:exactMatch MEDGEN:78639 semapv:UnspecifiedMatching MONDO:0000241 Keshan disease skos:exactMatch SCTID:46939000 semapv:UnspecifiedMatching MONDO:0000241 Keshan disease skos:exactMatch UMLS:C0268095 semapv:UnspecifiedMatching MONDO:0000241 Keshan disease skos:exactMatch icd11.foundation:1307765114 Keshan disease due to selenium deficiency semapv:UnspecifiedMatching MONDO:0000241 Keshan disease skos:exactMatch mesh:C536166 semapv:UnspecifiedMatching MONDO:0000242 tinea barbae skos:exactMatch DOID:0050096 tinea barbae semapv:UnspecifiedMatching MONDO:0000242 tinea barbae skos:exactMatch MEDGEN:748519 semapv:UnspecifiedMatching MONDO:0000242 tinea barbae skos:exactMatch SCTID:399329002 semapv:UnspecifiedMatching MONDO:0000242 tinea barbae skos:exactMatch UMLS:C2349994 semapv:UnspecifiedMatching MONDO:0000242 tinea barbae skos:exactMatch icd11.foundation:1201486458 Dermatophytosis of beard semapv:UnspecifiedMatching MONDO:0000242 tinea barbae skos:exactMatch mesh:C000656825 semapv:UnspecifiedMatching MONDO:0000243 ectothrix infectious disease skos:exactMatch DOID:0050097 ectothrix infectious disease semapv:UnspecifiedMatching MONDO:0000244 endothrix infectious disease skos:exactMatch DOID:0050105 endothrix infectious disease semapv:UnspecifiedMatching MONDO:0000245 tinea imbricata skos:exactMatch DOID:0050116 tinea imbricata semapv:UnspecifiedMatching MONDO:0000245 tinea imbricata skos:exactMatch ICD10CM:B35.5 Tinea imbricata semapv:UnspecifiedMatching MONDO:0000245 tinea imbricata skos:exactMatch MEDGEN:508199 semapv:UnspecifiedMatching MONDO:0000245 tinea imbricata skos:exactMatch SCTID:240699006 semapv:UnspecifiedMatching MONDO:0000245 tinea imbricata skos:exactMatch UMLS:C0040255 semapv:UnspecifiedMatching MONDO:0000245 tinea imbricata skos:exactMatch icd11.foundation:1617973556 Dermatophytosis due to Trichophyton concentricum semapv:UnspecifiedMatching MONDO:0000248 dengue shock syndrome skos:exactMatch DOID:0050125 dengue shock syndrome semapv:UnspecifiedMatching MONDO:0000248 dengue shock syndrome skos:exactMatch MEDGEN:83958 semapv:UnspecifiedMatching MONDO:0000248 dengue shock syndrome skos:exactMatch SCTID:409671005 semapv:UnspecifiedMatching MONDO:0000248 dengue shock syndrome skos:exactMatch UMLS:C0376300 semapv:UnspecifiedMatching MONDO:0000248 dengue shock syndrome skos:exactMatch mesh:D019595 semapv:UnspecifiedMatching MONDO:0000249 secretory diarrhea skos:exactMatch DOID:0050129 secretory diarrhea semapv:UnspecifiedMatching MONDO:0000249 secretory diarrhea skos:exactMatch MEDGEN:75635 semapv:UnspecifiedMatching MONDO:0000249 secretory diarrhea skos:exactMatch SCTID:15699003 semapv:UnspecifiedMatching MONDO:0000249 secretory diarrhea skos:exactMatch UMLS:C0267557 semapv:UnspecifiedMatching MONDO:0000250 osmotic diarrheal disease skos:exactMatch DOID:0050130 osmotic diarrhea semapv:UnspecifiedMatching MONDO:0000250 osmotic diarrheal disease skos:exactMatch MEDGEN:540779 semapv:UnspecifiedMatching MONDO:0000250 osmotic diarrheal disease skos:exactMatch SCTID:2946003 semapv:UnspecifiedMatching MONDO:0000250 osmotic diarrheal disease skos:exactMatch UMLS:C0267556 semapv:UnspecifiedMatching MONDO:0000252 inflammatory diarrhea skos:exactMatch DOID:0050132 inflammatory diarrhea semapv:UnspecifiedMatching MONDO:0000252 inflammatory diarrhea skos:exactMatch MEDGEN:636702 semapv:UnspecifiedMatching MONDO:0000252 inflammatory diarrhea skos:exactMatch SCTID:95544006 semapv:UnspecifiedMatching MONDO:0000252 inflammatory diarrhea skos:exactMatch UMLS:C0521604 semapv:UnspecifiedMatching MONDO:0000253 piedra skos:exactMatch MEDGEN:45923 semapv:UnspecifiedMatching MONDO:0000253 piedra skos:exactMatch SCTID:402135006 semapv:UnspecifiedMatching MONDO:0000253 piedra skos:exactMatch UMLS:C0031898 semapv:UnspecifiedMatching MONDO:0000253 piedra skos:exactMatch mesh:D010854 semapv:UnspecifiedMatching MONDO:0000254 cutaneous mycosis skos:exactMatch DOID:0050134 cutaneous mycosis semapv:UnspecifiedMatching MONDO:0000254 cutaneous mycosis skos:exactMatch SCTID:14560005 semapv:UnspecifiedMatching MONDO:0000255 subcutaneous mycosis skos:exactMatch DOID:0050135 subcutaneous mycosis semapv:UnspecifiedMatching MONDO:0000255 subcutaneous mycosis skos:exactMatch MEDGEN:1684692 semapv:UnspecifiedMatching MONDO:0000255 subcutaneous mycosis skos:exactMatch UMLS:C5230306 semapv:UnspecifiedMatching MONDO:0000256 systemic mycosis skos:exactMatch DOID:0050136 systemic mycosis semapv:UnspecifiedMatching MONDO:0000256 systemic mycosis skos:exactMatch MEDGEN:639956 semapv:UnspecifiedMatching MONDO:0000256 systemic mycosis skos:exactMatch SCTID:399314004 semapv:UnspecifiedMatching MONDO:0000256 systemic mycosis skos:exactMatch UMLS:C0553576 semapv:UnspecifiedMatching MONDO:0000257 acute diarrhea skos:exactMatch DOID:0050140 acute diarrhea semapv:UnspecifiedMatching MONDO:0000257 acute diarrhea skos:exactMatch MEDGEN:677005 semapv:UnspecifiedMatching MONDO:0000257 acute diarrhea skos:exactMatch SCTID:409966000 semapv:UnspecifiedMatching MONDO:0000257 acute diarrhea skos:exactMatch UMLS:C0740441 semapv:UnspecifiedMatching MONDO:0000259 asymptomatic dengue skos:exactMatch DOID:0050143 asymptomatic dengue semapv:UnspecifiedMatching MONDO:0000261 adenoiditis skos:exactMatch DOID:0050145 adenoiditis semapv:UnspecifiedMatching MONDO:0000261 adenoiditis skos:exactMatch ICD10CM:J35.02 Chronic adenoiditis semapv:UnspecifiedMatching MONDO:0000261 adenoiditis skos:exactMatch MEDGEN:507401 semapv:UnspecifiedMatching MONDO:0000261 adenoiditis skos:exactMatch SCTID:70020005 semapv:UnspecifiedMatching MONDO:0000261 adenoiditis skos:exactMatch UMLS:C0001427 semapv:UnspecifiedMatching MONDO:0000262 otomycosis skos:exactMatch DOID:0050147 otomycosis semapv:UnspecifiedMatching MONDO:0000262 otomycosis skos:exactMatch MEDGEN:452110 semapv:UnspecifiedMatching MONDO:0000262 otomycosis skos:exactMatch SCTID:53316003 semapv:UnspecifiedMatching MONDO:0000262 otomycosis skos:exactMatch UMLS:C0029895 semapv:UnspecifiedMatching MONDO:0000262 otomycosis skos:exactMatch icd11.foundation:107388709 Otomycosis semapv:UnspecifiedMatching MONDO:0000262 otomycosis skos:exactMatch mesh:D059249 semapv:UnspecifiedMatching MONDO:0000263 laryngotracheitis skos:exactMatch DOID:0050148 laryngotracheitis semapv:UnspecifiedMatching MONDO:0000263 laryngotracheitis skos:exactMatch MEDGEN:507907 semapv:UnspecifiedMatching MONDO:0000263 laryngotracheitis skos:exactMatch SCTID:55130001 semapv:UnspecifiedMatching MONDO:0000263 laryngotracheitis skos:exactMatch UMLS:C0023076 semapv:UnspecifiedMatching MONDO:0000265 aspiration pneumonia skos:exactMatch DOID:0050152 aspiration pneumonia semapv:UnspecifiedMatching MONDO:0000265 aspiration pneumonia skos:exactMatch MEDGEN:10814 semapv:UnspecifiedMatching MONDO:0000265 aspiration pneumonia skos:exactMatch SCTID:422588002 semapv:UnspecifiedMatching MONDO:0000265 aspiration pneumonia skos:exactMatch UMLS:C0032290 semapv:UnspecifiedMatching MONDO:0000265 aspiration pneumonia skos:exactMatch mesh:D011015 semapv:UnspecifiedMatching MONDO:0000266 pulmonary aspergilloma skos:exactMatch DOID:0050153 pulmonary aspergilloma semapv:UnspecifiedMatching MONDO:0000266 pulmonary aspergilloma skos:exactMatch EFO:1001834 semapv:UnspecifiedMatching MONDO:0000266 pulmonary aspergilloma skos:exactMatch MEDGEN:390019 semapv:UnspecifiedMatching MONDO:0000266 pulmonary aspergilloma skos:exactMatch UMLS:C2350529 semapv:UnspecifiedMatching MONDO:0000266 pulmonary aspergilloma skos:exactMatch mesh:D055732 semapv:UnspecifiedMatching MONDO:0000270 lower respiratory tract disorder skos:exactMatch DOID:0050161 lower respiratory tract disease semapv:UnspecifiedMatching MONDO:0000270 lower respiratory tract disorder skos:exactMatch EFO:0009433 semapv:UnspecifiedMatching MONDO:0000270 lower respiratory tract disorder skos:exactMatch MEDGEN:712703 semapv:UnspecifiedMatching MONDO:0000270 lower respiratory tract disorder skos:exactMatch SCTID:128272009 semapv:UnspecifiedMatching MONDO:0000270 lower respiratory tract disorder skos:exactMatch UMLS:C1290325 semapv:UnspecifiedMatching MONDO:0000270 lower respiratory tract disorder skos:exactMatch icd11.foundation:1582386590 Certain lower respiratory tract diseases semapv:UnspecifiedMatching MONDO:0000271 tuberculous salpingitis skos:exactMatch DOID:0050166 tuberculous salpingitis semapv:UnspecifiedMatching MONDO:0000271 tuberculous salpingitis skos:exactMatch MEDGEN:546960 semapv:UnspecifiedMatching MONDO:0000271 tuberculous salpingitis skos:exactMatch SCTID:49558004 semapv:UnspecifiedMatching MONDO:0000271 tuberculous salpingitis skos:exactMatch UMLS:C0275933 semapv:UnspecifiedMatching MONDO:0000271 tuberculous salpingitis skos:exactMatch icd11.foundation:25239933 Tuberculous salpingitis semapv:UnspecifiedMatching MONDO:0000273 Kunjin virus infectous disease skos:exactMatch DOID:0050174 Kunjin encephalitis semapv:UnspecifiedMatching MONDO:0000275 obsolete monogenic disease skos:exactMatch DOID:0050177 monogenic disease semapv:UnspecifiedMatching MONDO:0000276 Powassan encephalitis skos:exactMatch DOID:0050179 Powassan encephalitis semapv:UnspecifiedMatching MONDO:0000276 Powassan encephalitis skos:exactMatch MEDGEN:18601 semapv:UnspecifiedMatching MONDO:0000276 Powassan encephalitis skos:exactMatch SCTID:416707008 semapv:UnspecifiedMatching MONDO:0000276 Powassan encephalitis skos:exactMatch UMLS:C0032858 semapv:UnspecifiedMatching MONDO:0000276 Powassan encephalitis skos:exactMatch icd11.foundation:1674038791 Powassan encephalitis semapv:UnspecifiedMatching MONDO:0000282 Whitewater Arroyo hemorrhagic fever skos:exactMatch DOID:0050199 Whitewater Arroyo hemorrhagic fever semapv:UnspecifiedMatching MONDO:0000283 Hantavirus hemorrhagic fever with renal syndrome, Seoul virus type skos:exactMatch DOID:0050200 Korean hemorrhagic fever semapv:UnspecifiedMatching MONDO:0000284 Hantavirus hemorrhagic fever with renal syndrome, Puumala virus type skos:exactMatch DOID:0050201 nephropathia epidemica semapv:UnspecifiedMatching MONDO:0000284 Hantavirus hemorrhagic fever with renal syndrome, Puumala virus type skos:exactMatch MEDGEN:69308 semapv:UnspecifiedMatching MONDO:0000284 Hantavirus hemorrhagic fever with renal syndrome, Puumala virus type skos:exactMatch UMLS:C0242993 semapv:UnspecifiedMatching MONDO:0000286 Epstein-Barr virus hepatitis skos:exactMatch DOID:0050204 Epstein-Barr virus hepatitis semapv:UnspecifiedMatching MONDO:0000286 Epstein-Barr virus hepatitis skos:exactMatch MEDGEN:640194 semapv:UnspecifiedMatching MONDO:0000286 Epstein-Barr virus hepatitis skos:exactMatch SCTID:302919001 semapv:UnspecifiedMatching MONDO:0000286 Epstein-Barr virus hepatitis skos:exactMatch UMLS:C0554114 semapv:UnspecifiedMatching MONDO:0000288 polycystic echinococcosis skos:exactMatch DOID:0050218 polycystic echinococcosis semapv:UnspecifiedMatching MONDO:0000290 primary amebic meningoencephalitis skos:exactMatch DOID:0050242 primary amebic meningoencephalitis semapv:UnspecifiedMatching MONDO:0000290 primary amebic meningoencephalitis skos:exactMatch ICD10CM:B60.2 Naegleriasis semapv:UnspecifiedMatching MONDO:0000290 primary amebic meningoencephalitis skos:exactMatch MEDGEN:81253 semapv:UnspecifiedMatching MONDO:0000290 primary amebic meningoencephalitis skos:exactMatch SCTID:721816008 semapv:UnspecifiedMatching MONDO:0000290 primary amebic meningoencephalitis skos:exactMatch UMLS:C0300934 semapv:UnspecifiedMatching MONDO:0000290 primary amebic meningoencephalitis skos:exactMatch mesh:C535275 semapv:UnspecifiedMatching MONDO:0000291 granulomatous amebic encephalitis skos:exactMatch DOID:0050246 granulomatous amebic encephalitis semapv:UnspecifiedMatching MONDO:0000291 granulomatous amebic encephalitis skos:exactMatch MEDGEN:572559 semapv:UnspecifiedMatching MONDO:0000291 granulomatous amebic encephalitis skos:exactMatch SCTID:230187000 semapv:UnspecifiedMatching MONDO:0000291 granulomatous amebic encephalitis skos:exactMatch UMLS:C0338428 semapv:UnspecifiedMatching MONDO:0000292 philophthalmiasis skos:exactMatch DOID:0050250 philophthalmiasis semapv:UnspecifiedMatching MONDO:0000293 coenurosis skos:exactMatch DOID:0050251 coenurosis semapv:UnspecifiedMatching MONDO:0000293 coenurosis skos:exactMatch MEDGEN:3142 semapv:UnspecifiedMatching MONDO:0000293 coenurosis skos:exactMatch SCTID:24360007 semapv:UnspecifiedMatching MONDO:0000293 coenurosis skos:exactMatch UMLS:C0009225 semapv:UnspecifiedMatching MONDO:0000293 coenurosis skos:exactMatch icd11.foundation:1545561495 Coenurosis semapv:UnspecifiedMatching MONDO:0000294 mesocestoidiasis skos:exactMatch DOID:0050253 mesocestoidiasis semapv:UnspecifiedMatching MONDO:0000294 mesocestoidiasis skos:exactMatch MEDGEN:547845 semapv:UnspecifiedMatching MONDO:0000294 mesocestoidiasis skos:exactMatch SCTID:85750001 semapv:UnspecifiedMatching MONDO:0000294 mesocestoidiasis skos:exactMatch UMLS:C0277108 semapv:UnspecifiedMatching MONDO:0000295 acanthocephaliasis skos:exactMatch DOID:0050254 acanthocephaliasis semapv:UnspecifiedMatching MONDO:0000295 acanthocephaliasis skos:exactMatch MEDGEN:548052 semapv:UnspecifiedMatching MONDO:0000295 acanthocephaliasis skos:exactMatch SCTID:105713003 semapv:UnspecifiedMatching MONDO:0000295 acanthocephaliasis skos:exactMatch UMLS:C0277331 semapv:UnspecifiedMatching MONDO:0000295 acanthocephaliasis skos:exactMatch icd11.foundation:1026340475 Acanthocephaliasis semapv:UnspecifiedMatching MONDO:0000297 baylisascariasis skos:exactMatch DOID:0050259 baylisascariasis semapv:UnspecifiedMatching MONDO:0000297 baylisascariasis skos:exactMatch MEDGEN:547881 semapv:UnspecifiedMatching MONDO:0000297 baylisascariasis skos:exactMatch NCIT:C128397 Baylisascariasis semapv:UnspecifiedMatching MONDO:0000297 baylisascariasis skos:exactMatch UMLS:C0277150 semapv:UnspecifiedMatching MONDO:0000298 dioctophymiasis skos:exactMatch DOID:0050260 dioctophymiasis semapv:UnspecifiedMatching MONDO:0000298 dioctophymiasis skos:exactMatch MEDGEN:4326 semapv:UnspecifiedMatching MONDO:0000298 dioctophymiasis skos:exactMatch SCTID:40410004 semapv:UnspecifiedMatching MONDO:0000298 dioctophymiasis skos:exactMatch UMLS:C0012482 semapv:UnspecifiedMatching MONDO:0000299 thelaziasis skos:exactMatch DOID:0050261 thelaziasis semapv:UnspecifiedMatching MONDO:0000299 thelaziasis skos:exactMatch MEDGEN:576041 semapv:UnspecifiedMatching MONDO:0000299 thelaziasis skos:exactMatch SCTID:46477004 semapv:UnspecifiedMatching MONDO:0000299 thelaziasis skos:exactMatch UMLS:C0344058 semapv:UnspecifiedMatching MONDO:0000299 thelaziasis skos:exactMatch icd11.foundation:1803398353 Thelaziasis semapv:UnspecifiedMatching MONDO:0000301 ophthalmomyiasis skos:exactMatch DOID:0050268 ophthalmomyiasis semapv:UnspecifiedMatching MONDO:0000301 ophthalmomyiasis skos:exactMatch MEDGEN:507965 semapv:UnspecifiedMatching MONDO:0000301 ophthalmomyiasis skos:exactMatch SCTID:48216006 semapv:UnspecifiedMatching MONDO:0000301 ophthalmomyiasis skos:exactMatch UMLS:C0027034 semapv:UnspecifiedMatching MONDO:0000301 ophthalmomyiasis skos:exactMatch icd11.foundation:1105275196 Ocular myiasis semapv:UnspecifiedMatching MONDO:0000302 basidiobolomycosis skos:exactMatch DOID:0050278 basidiobolomycosis semapv:UnspecifiedMatching MONDO:0000302 basidiobolomycosis skos:exactMatch MEDGEN:575966 semapv:UnspecifiedMatching MONDO:0000302 basidiobolomycosis skos:exactMatch SCTID:4921002 semapv:UnspecifiedMatching MONDO:0000302 basidiobolomycosis skos:exactMatch UMLS:C0343965 semapv:UnspecifiedMatching MONDO:0000302 basidiobolomycosis skos:exactMatch icd11.foundation:2087283296 Basidiobolomycosis semapv:UnspecifiedMatching MONDO:0000303 conidiobolomycosis skos:exactMatch DOID:0050279 conidiobolomycosis semapv:UnspecifiedMatching MONDO:0000303 conidiobolomycosis skos:exactMatch MEDGEN:547510 semapv:UnspecifiedMatching MONDO:0000303 conidiobolomycosis skos:exactMatch SCTID:240783007 semapv:UnspecifiedMatching MONDO:0000303 conidiobolomycosis skos:exactMatch UMLS:C0276712 semapv:UnspecifiedMatching MONDO:0000303 conidiobolomycosis skos:exactMatch icd11.foundation:1326582778 Conidiobolomycosis semapv:UnspecifiedMatching MONDO:0000304 penicilliosis skos:exactMatch DOID:0050288 penicilliosis semapv:UnspecifiedMatching MONDO:0000304 penicilliosis skos:exactMatch MEDGEN:697372 semapv:UnspecifiedMatching MONDO:0000304 penicilliosis skos:exactMatch Orphanet:697053 Talaromycosis semapv:UnspecifiedMatching MONDO:0000304 penicilliosis skos:exactMatch SCTID:372936000 semapv:UnspecifiedMatching MONDO:0000304 penicilliosis skos:exactMatch SCTID:713315007 semapv:UnspecifiedMatching MONDO:0000304 penicilliosis skos:exactMatch UMLS:C1274008 semapv:UnspecifiedMatching MONDO:0000304 penicilliosis skos:exactMatch icd11.foundation:646368820 Talaromycosis semapv:UnspecifiedMatching MONDO:0000306 trichosporonosis skos:exactMatch DOID:0050290 trichosporonosis semapv:UnspecifiedMatching MONDO:0000306 trichosporonosis skos:exactMatch MEDGEN:452453 semapv:UnspecifiedMatching MONDO:0000306 trichosporonosis skos:exactMatch SCTID:240761008 semapv:UnspecifiedMatching MONDO:0000306 trichosporonosis skos:exactMatch UMLS:C0343939 semapv:UnspecifiedMatching MONDO:0000306 trichosporonosis skos:exactMatch mesh:D060586 semapv:UnspecifiedMatching MONDO:0000307 parasitic Ichthyosporea infectious disease skos:exactMatch DOID:0050291 parasitic Ichthyosporea infectious disease semapv:UnspecifiedMatching MONDO:0000308 primary systemic mycosis skos:exactMatch DOID:0050292 primary systemic mycosis semapv:UnspecifiedMatching MONDO:0000309 aniseikonia skos:exactMatch DOID:0050304 aniseikonia semapv:UnspecifiedMatching MONDO:0000309 aniseikonia skos:exactMatch EFO:1001266 semapv:UnspecifiedMatching MONDO:0000309 aniseikonia skos:exactMatch ICD10CM:H52.32 Aniseikonia semapv:UnspecifiedMatching MONDO:0000309 aniseikonia skos:exactMatch MEDGEN:1943 semapv:UnspecifiedMatching MONDO:0000309 aniseikonia skos:exactMatch SCTID:16059006 semapv:UnspecifiedMatching MONDO:0000309 aniseikonia skos:exactMatch UMLS:C0003078 semapv:UnspecifiedMatching MONDO:0000309 aniseikonia skos:exactMatch icd11.foundation:1672014953 Aniseikonia semapv:UnspecifiedMatching MONDO:0000309 aniseikonia skos:exactMatch mesh:D000839 semapv:UnspecifiedMatching MONDO:0000310 Alkhurma hemorrhagic fever skos:exactMatch DOID:0050308 Alkhumra hemorrhagic fever semapv:UnspecifiedMatching MONDO:0000310 Alkhurma hemorrhagic fever skos:exactMatch MEDGEN:1684673 semapv:UnspecifiedMatching MONDO:0000310 Alkhurma hemorrhagic fever skos:exactMatch UMLS:C5230236 semapv:UnspecifiedMatching MONDO:0000313 hypophosphatemia skos:exactMatch DOID:0050336 hypophosphatemia semapv:UnspecifiedMatching MONDO:0000313 hypophosphatemia skos:exactMatch MEDGEN:39327 semapv:UnspecifiedMatching MONDO:0000313 hypophosphatemia skos:exactMatch NCIT:C37977 Hypophosphatemia semapv:UnspecifiedMatching MONDO:0000313 hypophosphatemia skos:exactMatch SCTID:4996001 semapv:UnspecifiedMatching MONDO:0000313 hypophosphatemia skos:exactMatch UMLS:C0085682 semapv:UnspecifiedMatching MONDO:0000313 hypophosphatemia skos:exactMatch mesh:D017674 semapv:UnspecifiedMatching MONDO:0000314 primary bacterial infectious disease skos:exactMatch DOID:0050338 primary bacterial infectious disease semapv:UnspecifiedMatching MONDO:0000315 commensal bacterial infectious disease skos:exactMatch DOID:0050339 commensal bacterial infectious disease semapv:UnspecifiedMatching MONDO:0000316 opportunistic bacterial infectious disease skos:exactMatch DOID:0050340 opportunistic bacterial infectious disease semapv:UnspecifiedMatching MONDO:0000320 glandular tularemia skos:exactMatch DOID:0050382 glandular tularemia semapv:UnspecifiedMatching MONDO:0000320 glandular tularemia skos:exactMatch MEDGEN:546997 semapv:UnspecifiedMatching MONDO:0000320 glandular tularemia skos:exactMatch SCTID:21857006 semapv:UnspecifiedMatching MONDO:0000320 glandular tularemia skos:exactMatch UMLS:C0275974 semapv:UnspecifiedMatching MONDO:0000321 typhoidal tularemia skos:exactMatch DOID:0050383 typhoidal tularemia semapv:UnspecifiedMatching MONDO:0000321 typhoidal tularemia skos:exactMatch MEDGEN:633510 semapv:UnspecifiedMatching MONDO:0000321 typhoidal tularemia skos:exactMatch SCTID:398554008 semapv:UnspecifiedMatching MONDO:0000321 typhoidal tularemia skos:exactMatch UMLS:C0473876 semapv:UnspecifiedMatching MONDO:0000327 Buruli ulcer disease skos:exactMatch DOID:0050456 Buruli ulcer disease semapv:UnspecifiedMatching MONDO:0000327 Buruli ulcer disease skos:exactMatch MEDGEN:43206 semapv:UnspecifiedMatching MONDO:0000327 Buruli ulcer disease skos:exactMatch NCIT:C84604 Buruli Ulcer semapv:UnspecifiedMatching MONDO:0000327 Buruli ulcer disease skos:exactMatch SCTID:15845006 semapv:UnspecifiedMatching MONDO:0000327 Buruli ulcer disease skos:exactMatch UMLS:C0085568 semapv:UnspecifiedMatching MONDO:0000327 Buruli ulcer disease skos:exactMatch icd11.foundation:1974989140 Mycobacterium ulcerans infection semapv:UnspecifiedMatching MONDO:0000327 Buruli ulcer disease skos:exactMatch mesh:D054312 semapv:UnspecifiedMatching MONDO:0000328 hyperphosphatemia skos:exactMatch DOID:0050459 hyperphosphatemia semapv:UnspecifiedMatching MONDO:0000328 hyperphosphatemia skos:exactMatch MEDGEN:39326 semapv:UnspecifiedMatching MONDO:0000328 hyperphosphatemia skos:exactMatch SCTID:20165001 semapv:UnspecifiedMatching MONDO:0000328 hyperphosphatemia skos:exactMatch UMLS:C0085681 semapv:UnspecifiedMatching MONDO:0000328 hyperphosphatemia skos:exactMatch icd11.foundation:1745515193 Hyperphosphatemia semapv:UnspecifiedMatching MONDO:0000328 hyperphosphatemia skos:exactMatch mesh:D054559 semapv:UnspecifiedMatching MONDO:0000330 endemic typhus skos:exactMatch DOID:0050481 endemic typhus semapv:UnspecifiedMatching MONDO:0000330 endemic typhus skos:exactMatch MEDGEN:11977 semapv:UnspecifiedMatching MONDO:0000330 endemic typhus skos:exactMatch NCIT:C84688 Endemic Typhus Fever semapv:UnspecifiedMatching MONDO:0000330 endemic typhus skos:exactMatch Orphanet:83315 Murine typhus semapv:UnspecifiedMatching MONDO:0000330 endemic typhus skos:exactMatch UMLS:C0041472 semapv:UnspecifiedMatching MONDO:0000330 endemic typhus skos:exactMatch icd11.foundation:4659958 Typhus fever due to Rickettsia typhi semapv:UnspecifiedMatching MONDO:0000330 endemic typhus skos:exactMatch mesh:D014437 semapv:UnspecifiedMatching MONDO:0000331 Rickettsia helvetica spotted fever skos:exactMatch DOID:0050484 aneruptive fever semapv:UnspecifiedMatching MONDO:0000332 sennetsu fever skos:exactMatch DOID:0050485 sennetsu fever semapv:UnspecifiedMatching MONDO:0000332 sennetsu fever skos:exactMatch MEDGEN:105459 semapv:UnspecifiedMatching MONDO:0000332 sennetsu fever skos:exactMatch SCTID:21013006 semapv:UnspecifiedMatching MONDO:0000332 sennetsu fever skos:exactMatch UMLS:C0520779 semapv:UnspecifiedMatching MONDO:0000332 sennetsu fever skos:exactMatch mesh:C537582 semapv:UnspecifiedMatching MONDO:0000333 early congenital syphilis skos:exactMatch DOID:0050488 early congenital syphilis semapv:UnspecifiedMatching MONDO:0000333 early congenital syphilis skos:exactMatch MEDGEN:546894 semapv:UnspecifiedMatching MONDO:0000333 early congenital syphilis skos:exactMatch SCTID:4359001 semapv:UnspecifiedMatching MONDO:0000333 early congenital syphilis skos:exactMatch UMLS:C0275859 semapv:UnspecifiedMatching MONDO:0000333 early congenital syphilis skos:exactMatch icd11.foundation:108348777 Early congenital syphilis semapv:UnspecifiedMatching MONDO:0000334 multinodular goiter skos:exactMatch DOID:0050489 multinodular goiter semapv:UnspecifiedMatching MONDO:0000334 multinodular goiter skos:exactMatch MEDGEN:87431 semapv:UnspecifiedMatching MONDO:0000334 multinodular goiter skos:exactMatch NCIT:C131438 Multinodular Goiter semapv:UnspecifiedMatching MONDO:0000334 multinodular goiter skos:exactMatch OMIMPS:138800 Goiter, multinodular semapv:UnspecifiedMatching MONDO:0000334 multinodular goiter skos:exactMatch SCTID:237570007 semapv:UnspecifiedMatching MONDO:0000334 multinodular goiter skos:exactMatch UMLS:C0342208 semapv:UnspecifiedMatching MONDO:0000335 parenchymatous neurosyphilis skos:exactMatch DOID:0050490 parenchymatous neurosyphilis semapv:UnspecifiedMatching MONDO:0000336 meningovascular neurosyphilis skos:exactMatch DOID:0050491 meningovascular neurosyphilis semapv:UnspecifiedMatching MONDO:0000337 exanthema subitum skos:exactMatch DOID:0050495 exanthema subitum semapv:UnspecifiedMatching MONDO:0000337 exanthema subitum skos:exactMatch EFO:1001320 semapv:UnspecifiedMatching MONDO:0000337 exanthema subitum skos:exactMatch ICD10CM:B08.2 Exanthema subitum [sixth disease] semapv:UnspecifiedMatching MONDO:0000337 exanthema subitum skos:exactMatch MEDGEN:41909 semapv:UnspecifiedMatching MONDO:0000337 exanthema subitum skos:exactMatch NCIT:C128420 Roseola Infantum semapv:UnspecifiedMatching MONDO:0000337 exanthema subitum skos:exactMatch SCTID:54385001 semapv:UnspecifiedMatching MONDO:0000337 exanthema subitum skos:exactMatch UMLS:C0015231 semapv:UnspecifiedMatching MONDO:0000337 exanthema subitum skos:exactMatch icd11.foundation:1883970802 Roseola infantum semapv:UnspecifiedMatching MONDO:0000337 exanthema subitum skos:exactMatch mesh:D005077 semapv:UnspecifiedMatching MONDO:0000338 variola major infectious disease skos:exactMatch DOID:0050508 variola major semapv:UnspecifiedMatching MONDO:0000338 variola major infectious disease skos:exactMatch MEDGEN:740750 semapv:UnspecifiedMatching MONDO:0000338 variola major infectious disease skos:exactMatch SCTID:47452006 semapv:UnspecifiedMatching MONDO:0000338 variola major infectious disease skos:exactMatch UMLS:C1812609 semapv:UnspecifiedMatching MONDO:0000339 spinal polio skos:exactMatch DOID:0050513 spinal polio semapv:UnspecifiedMatching MONDO:0000340 bulbospinal polio skos:exactMatch DOID:0050514 bulbospinal polio semapv:UnspecifiedMatching MONDO:0000341 paralytic poliomyelitis skos:exactMatch DOID:0050515 paralytic poliomyelitis semapv:UnspecifiedMatching MONDO:0000341 paralytic poliomyelitis skos:exactMatch MEDGEN:1684656 semapv:UnspecifiedMatching MONDO:0000341 paralytic poliomyelitis skos:exactMatch UMLS:C1405301 semapv:UnspecifiedMatching MONDO:0000342 O'nyong'nyong fever skos:exactMatch DOID:0050516 O'nyong-nyong fever semapv:UnspecifiedMatching MONDO:0000342 O'nyong'nyong fever skos:exactMatch ICD10CM:A92.1 O'nyong-nyong fever semapv:UnspecifiedMatching MONDO:0000342 O'nyong'nyong fever skos:exactMatch MEDGEN:547234 semapv:UnspecifiedMatching MONDO:0000342 O'nyong'nyong fever skos:exactMatch SCTID:85579005 semapv:UnspecifiedMatching MONDO:0000342 O'nyong'nyong fever skos:exactMatch UMLS:C0276286 semapv:UnspecifiedMatching MONDO:0000343 Barmah forest virus disease skos:exactMatch DOID:0050517 Barmah Forest virus disease semapv:UnspecifiedMatching MONDO:0000344 Ross river fever skos:exactMatch DOID:0050518 Ross River fever semapv:UnspecifiedMatching MONDO:0000344 Ross river fever skos:exactMatch ICD10CM:B33.1 Ross River disease semapv:UnspecifiedMatching MONDO:0000344 Ross river fever skos:exactMatch MEDGEN:1673033 semapv:UnspecifiedMatching MONDO:0000344 Ross river fever skos:exactMatch SCTID:602001 semapv:UnspecifiedMatching MONDO:0000344 Ross river fever skos:exactMatch UMLS:C0919833 semapv:UnspecifiedMatching MONDO:0000344 Ross river fever skos:exactMatch icd11.foundation:1085418398 Ross River disease semapv:UnspecifiedMatching MONDO:0000345 Oropouche fever skos:exactMatch DOID:0050521 Oropouche fever semapv:UnspecifiedMatching MONDO:0000345 Oropouche fever skos:exactMatch ICD10CM:A93.0 Oropouche virus disease semapv:UnspecifiedMatching MONDO:0000345 Oropouche fever skos:exactMatch MEDGEN:547314 semapv:UnspecifiedMatching MONDO:0000345 Oropouche fever skos:exactMatch SCTID:72880002 semapv:UnspecifiedMatching MONDO:0000345 Oropouche fever skos:exactMatch UMLS:C0276386 semapv:UnspecifiedMatching MONDO:0000345 Oropouche fever skos:exactMatch icd11.foundation:693244560 Oropouche virus disease semapv:UnspecifiedMatching MONDO:0000346 Hantavirus hemorrhagic fever with renal syndrome, Dobrava-Belgrade virus type skos:exactMatch DOID:0050522 Balkan hemorrhagic fever semapv:UnspecifiedMatching MONDO:0000348 obsolete posterior polar cataract skos:exactMatch DOID:0050537 posterior polar cataract semapv:UnspecifiedMatching MONDO:0000351 disorder of methionine catabolism skos:exactMatch DOID:0050544 hypermethioninemia semapv:UnspecifiedMatching MONDO:0000351 disorder of methionine catabolism skos:exactMatch MEDGEN:887708 semapv:UnspecifiedMatching MONDO:0000351 disorder of methionine catabolism skos:exactMatch SCTID:43123004 semapv:UnspecifiedMatching MONDO:0000351 disorder of methionine catabolism skos:exactMatch UMLS:C4048705 semapv:UnspecifiedMatching MONDO:0000355 Ullrich congenital muscular dystrophy skos:exactMatch DOID:0050558 Ullrich congenital muscular dystrophy semapv:UnspecifiedMatching MONDO:0000355 Ullrich congenital muscular dystrophy skos:exactMatch MEDGEN:1642667 semapv:UnspecifiedMatching MONDO:0000355 Ullrich congenital muscular dystrophy skos:exactMatch NCIT:C123438 Ullrich Congenital Muscular Dystrophy semapv:UnspecifiedMatching MONDO:0000355 Ullrich congenital muscular dystrophy skos:exactMatch OMIMPS:254090 Ullrich congenital muscular dystrophy semapv:UnspecifiedMatching MONDO:0000355 Ullrich congenital muscular dystrophy skos:exactMatch Orphanet:75840 Ullrich congenital muscular dystrophy semapv:UnspecifiedMatching MONDO:0000355 Ullrich congenital muscular dystrophy skos:exactMatch SCTID:240062007 semapv:UnspecifiedMatching MONDO:0000355 Ullrich congenital muscular dystrophy skos:exactMatch UMLS:C4551860 semapv:UnspecifiedMatching MONDO:0000355 Ullrich congenital muscular dystrophy skos:exactMatch icd11.foundation:1011547453 Ullrich congenital muscular dystrophy semapv:UnspecifiedMatching MONDO:0000355 Ullrich congenital muscular dystrophy skos:exactMatch mesh:C537521 semapv:UnspecifiedMatching MONDO:0000358 orofacial cleft skos:exactMatch DOID:0050567 orofacial cleft semapv:UnspecifiedMatching MONDO:0000358 orofacial cleft skos:exactMatch MEDGEN:472000 semapv:UnspecifiedMatching MONDO:0000358 orofacial cleft skos:exactMatch OMIMPS:119530 Orofacial cleft semapv:UnspecifiedMatching MONDO:0000358 orofacial cleft skos:exactMatch SCTID:449790007 semapv:UnspecifiedMatching MONDO:0000358 orofacial cleft skos:exactMatch UMLS:C3266076 semapv:UnspecifiedMatching MONDO:0000359 spondylocostal dysostosis skos:exactMatch DOID:0050568 spondylocostal dysostosis semapv:UnspecifiedMatching MONDO:0000359 spondylocostal dysostosis skos:exactMatch MEDGEN:82707 semapv:UnspecifiedMatching MONDO:0000359 spondylocostal dysostosis skos:exactMatch NCIT:C125598 Spondylocostal Dysostosis semapv:UnspecifiedMatching MONDO:0000359 spondylocostal dysostosis skos:exactMatch OMIMPS:277300 Spondylocostal dysostosis semapv:UnspecifiedMatching MONDO:0000359 spondylocostal dysostosis skos:exactMatch UMLS:C0265343 semapv:UnspecifiedMatching MONDO:0000359 spondylocostal dysostosis skos:exactMatch mesh:C537565 semapv:UnspecifiedMatching MONDO:0000363 gummatous syphilis skos:exactMatch DOID:0050584 gummatous syphilis semapv:UnspecifiedMatching MONDO:0000363 gummatous syphilis skos:exactMatch icd11.foundation:1630654348 Gummatous syphilis semapv:UnspecifiedMatching MONDO:0000365 primary congenital glaucoma skos:exactMatch DOID:0050593 primary congenital glaucoma semapv:UnspecifiedMatching MONDO:0000365 primary congenital glaucoma skos:exactMatch MEDGEN:288550 semapv:UnspecifiedMatching MONDO:0000365 primary congenital glaucoma skos:exactMatch NCIT:C150251 Primary Congenital Glaucoma semapv:UnspecifiedMatching MONDO:0000365 primary congenital glaucoma skos:exactMatch SCTID:415176004 semapv:UnspecifiedMatching MONDO:0000365 primary congenital glaucoma skos:exactMatch UMLS:C1533041 semapv:UnspecifiedMatching MONDO:0000365 primary congenital glaucoma skos:exactMatch icd11.foundation:517092878 Primary congenital glaucoma semapv:UnspecifiedMatching MONDO:0000367 taeniasis skos:exactMatch DOID:0050596 taeniasis semapv:UnspecifiedMatching MONDO:0000367 taeniasis skos:exactMatch EFO:1001433 semapv:UnspecifiedMatching MONDO:0000367 taeniasis skos:exactMatch ICD10CM:B68 Taeniasis semapv:UnspecifiedMatching MONDO:0000367 taeniasis skos:exactMatch ICD10WHO:B68 Taeniasis semapv:UnspecifiedMatching MONDO:0000367 taeniasis skos:exactMatch MEDGEN:11701 semapv:UnspecifiedMatching MONDO:0000367 taeniasis skos:exactMatch NCIT:C85180 Taeniasis semapv:UnspecifiedMatching MONDO:0000367 taeniasis skos:exactMatch SCTID:69163003 semapv:UnspecifiedMatching MONDO:0000367 taeniasis skos:exactMatch UMLS:C0039254 semapv:UnspecifiedMatching MONDO:0000367 taeniasis skos:exactMatch icd11.foundation:733748279 Taeniasis semapv:UnspecifiedMatching MONDO:0000367 taeniasis skos:exactMatch mesh:D013622 semapv:UnspecifiedMatching MONDO:0000368 extrapulmonary tuberculosis skos:exactMatch DOID:0050598 extrapulmonary tuberculosis semapv:UnspecifiedMatching MONDO:0000368 extrapulmonary tuberculosis skos:exactMatch MEDGEN:671310 semapv:UnspecifiedMatching MONDO:0000368 extrapulmonary tuberculosis skos:exactMatch SCTID:423997002 semapv:UnspecifiedMatching MONDO:0000368 extrapulmonary tuberculosis skos:exactMatch UMLS:C0679362 semapv:UnspecifiedMatching MONDO:0000369 abdominal tuberculosis skos:exactMatch DOID:0050599 abdominal tuberculosis semapv:UnspecifiedMatching MONDO:0000369 abdominal tuberculosis skos:exactMatch MEDGEN:677012 semapv:UnspecifiedMatching MONDO:0000369 abdominal tuberculosis skos:exactMatch SCTID:447330002 semapv:UnspecifiedMatching MONDO:0000369 abdominal tuberculosis skos:exactMatch UMLS:C0740652 semapv:UnspecifiedMatching MONDO:0000371 oral cavity carcinoma in situ skos:exactMatch DOID:0050610 oral cavity carcinoma in situ semapv:UnspecifiedMatching MONDO:0000371 oral cavity carcinoma in situ skos:exactMatch MEDGEN:138076 semapv:UnspecifiedMatching MONDO:0000371 oral cavity carcinoma in situ skos:exactMatch NCIT:C4587 Stage 0 Oral Cavity Cancer AJCC v6 and v7 semapv:UnspecifiedMatching MONDO:0000371 oral cavity carcinoma in situ skos:exactMatch SCTID:92660005 semapv:UnspecifiedMatching MONDO:0000371 oral cavity carcinoma in situ skos:exactMatch UMLS:C0347073 semapv:UnspecifiedMatching MONDO:0000371 oral cavity carcinoma in situ skos:exactMatch icd11.foundation:1389868484 Carcinoma in situ of oral cavity semapv:UnspecifiedMatching MONDO:0000372 pharynx carcinoma in situ skos:exactMatch DOID:0050611 pharynx carcinoma in situ semapv:UnspecifiedMatching MONDO:0000372 pharynx carcinoma in situ skos:exactMatch ICD10CM:D00.08 Carcinoma in situ of pharynx semapv:UnspecifiedMatching MONDO:0000372 pharynx carcinoma in situ skos:exactMatch MEDGEN:83851 semapv:UnspecifiedMatching MONDO:0000372 pharynx carcinoma in situ skos:exactMatch NCIT:C4942 Stage 0 Pharyngeal Cancer semapv:UnspecifiedMatching MONDO:0000372 pharynx carcinoma in situ skos:exactMatch SCTID:92681005 semapv:UnspecifiedMatching MONDO:0000372 pharynx carcinoma in situ skos:exactMatch UMLS:C0347098 semapv:UnspecifiedMatching MONDO:0000372 pharynx carcinoma in situ skos:exactMatch icd11.foundation:1272356737 Carcinoma in situ of pharynx semapv:UnspecifiedMatching MONDO:0000373 gall bladder carcinoma in situ skos:exactMatch DOID:0050612 gallbladder carcinoma in situ semapv:UnspecifiedMatching MONDO:0000373 gall bladder carcinoma in situ skos:exactMatch MEDGEN:87523 semapv:UnspecifiedMatching MONDO:0000373 gall bladder carcinoma in situ skos:exactMatch NCIT:C4439 Stage 0 Gallbladder Cancer AJCC v6 and v7 semapv:UnspecifiedMatching MONDO:0000373 gall bladder carcinoma in situ skos:exactMatch UMLS:C0345911 semapv:UnspecifiedMatching MONDO:0000374 bile duct carcinoma in situ skos:exactMatch DOID:0050613 bile duct carcinoma in situ semapv:UnspecifiedMatching MONDO:0000374 bile duct carcinoma in situ skos:exactMatch NCIT:C134609 Stage 0 Intrahepatic Bile Duct Cancer AJCC v8 semapv:UnspecifiedMatching MONDO:0000375 bronchus carcinoma in situ skos:exactMatch DOID:0050614 bronchus carcinoma in situ semapv:UnspecifiedMatching MONDO:0000375 bronchus carcinoma in situ skos:exactMatch MEDGEN:754440 semapv:UnspecifiedMatching MONDO:0000375 bronchus carcinoma in situ skos:exactMatch SCTID:92557009 semapv:UnspecifiedMatching MONDO:0000375 bronchus carcinoma in situ skos:exactMatch UMLS:C2939445 semapv:UnspecifiedMatching MONDO:0000375 bronchus carcinoma in situ skos:exactMatch icd11.foundation:496085082 Carcinoma in situ of bronchus semapv:UnspecifiedMatching MONDO:0000376 respiratory system cancer skos:exactMatch DOID:0050615 respiratory system cancer semapv:UnspecifiedMatching MONDO:0000376 respiratory system cancer skos:exactMatch MEDGEN:756863 semapv:UnspecifiedMatching MONDO:0000376 respiratory system cancer skos:exactMatch NCIT:C4571 Malignant Respiratory System Neoplasm semapv:UnspecifiedMatching MONDO:0000376 respiratory system cancer skos:exactMatch SCTID:449096009 semapv:UnspecifiedMatching MONDO:0000376 respiratory system cancer skos:exactMatch UMLS:C3164456 semapv:UnspecifiedMatching MONDO:0000377 malignant Leydig cell tumor skos:exactMatch MEDGEN:83143 semapv:UnspecifiedMatching MONDO:0000377 malignant Leydig cell tumor skos:exactMatch NCIT:C4213 Malignant Leydig Cell Tumor semapv:UnspecifiedMatching MONDO:0000377 malignant Leydig cell tumor skos:exactMatch UMLS:C0334410 semapv:UnspecifiedMatching MONDO:0000378 malignant Sertoli cell tumor skos:exactMatch MEDGEN:137755 semapv:UnspecifiedMatching MONDO:0000378 malignant Sertoli cell tumor skos:exactMatch NCIT:C67006 Malignant Sertoli Cell Tumor semapv:UnspecifiedMatching MONDO:0000378 malignant Sertoli cell tumor skos:exactMatch UMLS:C0334406 semapv:UnspecifiedMatching MONDO:0000380 paranasal sinus carcinoma skos:exactMatch DOID:0050619 paranasal sinus cancer semapv:UnspecifiedMatching MONDO:0000380 paranasal sinus carcinoma skos:exactMatch MEDGEN:167751 semapv:UnspecifiedMatching MONDO:0000380 paranasal sinus carcinoma skos:exactMatch NCIT:C6014 Paranasal Sinus Carcinoma semapv:UnspecifiedMatching MONDO:0000380 paranasal sinus carcinoma skos:exactMatch UMLS:C0854995 semapv:UnspecifiedMatching MONDO:0000381 infiltrating renal pelvis transitional cell carcinoma skos:exactMatch DOID:0050620 infiltrating renal pelvis transitional cell carcinoma semapv:UnspecifiedMatching MONDO:0000382 respiratory system benign neoplasm skos:exactMatch DOID:0050621 respiratory system benign neoplasm semapv:UnspecifiedMatching MONDO:0000382 respiratory system benign neoplasm skos:exactMatch MEDGEN:635669 semapv:UnspecifiedMatching MONDO:0000382 respiratory system benign neoplasm skos:exactMatch NCIT:C8531 Benign Respiratory System Neoplasm semapv:UnspecifiedMatching MONDO:0000382 respiratory system benign neoplasm skos:exactMatch SCTID:255166003 semapv:UnspecifiedMatching MONDO:0000382 respiratory system benign neoplasm skos:exactMatch UMLS:C0497556 semapv:UnspecifiedMatching MONDO:0000383 benign reproductive system neoplasm skos:exactMatch DOID:0050622 reproductive organ benign neoplasm semapv:UnspecifiedMatching MONDO:0000383 benign reproductive system neoplasm skos:exactMatch MEDGEN:234034 semapv:UnspecifiedMatching MONDO:0000383 benign reproductive system neoplasm skos:exactMatch NCIT:C7617 Benign Reproductive System Neoplasm semapv:UnspecifiedMatching MONDO:0000383 benign reproductive system neoplasm skos:exactMatch UMLS:C1332536 semapv:UnspecifiedMatching MONDO:0000384 bladder benign neoplasm skos:exactMatch DOID:0050623 bladder benign neoplasm semapv:UnspecifiedMatching MONDO:0000384 bladder benign neoplasm skos:exactMatch ICD10CM:D30.3 Benign neoplasm of bladder semapv:UnspecifiedMatching MONDO:0000384 bladder benign neoplasm skos:exactMatch MEDGEN:57811 semapv:UnspecifiedMatching MONDO:0000384 bladder benign neoplasm skos:exactMatch NCIT:C3618 Benign Bladder Neoplasm semapv:UnspecifiedMatching MONDO:0000384 bladder benign neoplasm skos:exactMatch SCTID:91992005 semapv:UnspecifiedMatching MONDO:0000384 bladder benign neoplasm skos:exactMatch UMLS:C0154017 semapv:UnspecifiedMatching MONDO:0000384 bladder benign neoplasm skos:exactMatch icd11.foundation:750827946 Benign neoplasm of bladder semapv:UnspecifiedMatching MONDO:0000385 benign digestive system neoplasm skos:exactMatch DOID:0050624 gastrointestinal system benign neoplasm semapv:UnspecifiedMatching MONDO:0000385 benign digestive system neoplasm skos:exactMatch MEDGEN:141680 semapv:UnspecifiedMatching MONDO:0000385 benign digestive system neoplasm skos:exactMatch NCIT:C4787 Benign Digestive System Neoplasm semapv:UnspecifiedMatching MONDO:0000385 benign digestive system neoplasm skos:exactMatch UMLS:C0497538 semapv:UnspecifiedMatching MONDO:0000386 digestive system neuroendocrine tumor, grade 1/2 skos:exactMatch DOID:0050626 gastrointestinal neuroendocrine tumor semapv:UnspecifiedMatching MONDO:0000386 digestive system neuroendocrine tumor, grade 1/2 skos:exactMatch MEDGEN:443945 semapv:UnspecifiedMatching MONDO:0000386 digestive system neuroendocrine tumor, grade 1/2 skos:exactMatch NCIT:C95404 Digestive System Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO:0000386 digestive system neuroendocrine tumor, grade 1/2 skos:exactMatch UMLS:C2930967 semapv:UnspecifiedMatching MONDO:0000387 hypochromic microcytic anemia skos:exactMatch DOID:0050642 hypochromic microcytic anemia semapv:UnspecifiedMatching MONDO:0000387 hypochromic microcytic anemia skos:exactMatch MEDGEN:124413 semapv:UnspecifiedMatching MONDO:0000387 hypochromic microcytic anemia skos:exactMatch SCTID:44666001 semapv:UnspecifiedMatching MONDO:0000387 hypochromic microcytic anemia skos:exactMatch UMLS:C0271901 semapv:UnspecifiedMatching MONDO:0000387 hypochromic microcytic anemia skos:exactMatch mesh:C536357 semapv:UnspecifiedMatching MONDO:0000389 atelosteogenesis skos:exactMatch DOID:0050648 atelosteogenesis semapv:UnspecifiedMatching MONDO:0000389 atelosteogenesis skos:exactMatch MEDGEN:1806597 semapv:UnspecifiedMatching MONDO:0000389 atelosteogenesis skos:exactMatch OMIMPS:108720 Atelosteogenesis semapv:UnspecifiedMatching MONDO:0000389 atelosteogenesis skos:exactMatch SCTID:43814000 semapv:UnspecifiedMatching MONDO:0000389 atelosteogenesis skos:exactMatch UMLS:C5574658 semapv:UnspecifiedMatching MONDO:0000390 vitelliform macular dystrophy skos:exactMatch DOID:0050661 vitelliform macular dystrophy semapv:UnspecifiedMatching MONDO:0000390 vitelliform macular dystrophy skos:exactMatch MEDGEN:137920 semapv:UnspecifiedMatching MONDO:0000390 vitelliform macular dystrophy skos:exactMatch NCIT:C118788 Vitelliform Macular Dystrophy semapv:UnspecifiedMatching MONDO:0000390 vitelliform macular dystrophy skos:exactMatch OMIMPS:153840 Macular dystrophy, vitelliform semapv:UnspecifiedMatching MONDO:0000390 vitelliform macular dystrophy skos:exactMatch SCTID:90036004 semapv:UnspecifiedMatching MONDO:0000390 vitelliform macular dystrophy skos:exactMatch UMLS:C0339510 semapv:UnspecifiedMatching MONDO:0000390 vitelliform macular dystrophy skos:exactMatch mesh:D057826 semapv:UnspecifiedMatching MONDO:0000393 partial fetal alcohol syndrome skos:exactMatch DOID:0050666 partial fetal alcohol syndrome semapv:UnspecifiedMatching MONDO:0000393 partial fetal alcohol syndrome skos:exactMatch MEDGEN:775682 semapv:UnspecifiedMatching MONDO:0000393 partial fetal alcohol syndrome skos:exactMatch UMLS:C3661483 semapv:UnspecifiedMatching MONDO:0000395 alcohol-related birth defect skos:exactMatch DOID:0050668 alcohol-related birth defects semapv:UnspecifiedMatching MONDO:0000395 alcohol-related birth defect skos:exactMatch MEDGEN:459973 semapv:UnspecifiedMatching MONDO:0000395 alcohol-related birth defect skos:exactMatch NCIT:C92727 Alcohol Related Birth Defect semapv:UnspecifiedMatching MONDO:0000395 alcohol-related birth defect skos:exactMatch UMLS:C3146244 semapv:UnspecifiedMatching MONDO:0000396 spastic cerebral palsy skos:exactMatch DOID:0050669 spastic cerebral palsy semapv:UnspecifiedMatching MONDO:0000396 spastic cerebral palsy skos:exactMatch MEDGEN:137905 semapv:UnspecifiedMatching MONDO:0000396 spastic cerebral palsy skos:exactMatch NCIT:C116903 Spastic Cerebral Palsy semapv:UnspecifiedMatching MONDO:0000396 spastic cerebral palsy skos:exactMatch SCTID:230773005 semapv:UnspecifiedMatching MONDO:0000396 spastic cerebral palsy skos:exactMatch UMLS:C0338596 semapv:UnspecifiedMatching MONDO:0000396 spastic cerebral palsy skos:exactMatch icd11.foundation:1426032265 Spastic cerebral palsy semapv:UnspecifiedMatching MONDO:0000397 ataxic cerebral palsy skos:exactMatch DOID:0050670 ataxic cerebral palsy semapv:UnspecifiedMatching MONDO:0000397 ataxic cerebral palsy skos:exactMatch ICD10CM:G80.4 Ataxic cerebral palsy semapv:UnspecifiedMatching MONDO:0000397 ataxic cerebral palsy skos:exactMatch MEDGEN:95998 semapv:UnspecifiedMatching MONDO:0000397 ataxic cerebral palsy skos:exactMatch NCIT:C97168 Ataxic Cerebral Palsy semapv:UnspecifiedMatching MONDO:0000397 ataxic cerebral palsy skos:exactMatch SCTID:278512001 semapv:UnspecifiedMatching MONDO:0000397 ataxic cerebral palsy skos:exactMatch UMLS:C0394005 semapv:UnspecifiedMatching MONDO:0000397 ataxic cerebral palsy skos:exactMatch icd11.foundation:1134558601 Ataxic cerebral palsy semapv:UnspecifiedMatching MONDO:0000400 mixed cerebral palsy skos:exactMatch DOID:0050673 mixed cerebral palsy semapv:UnspecifiedMatching MONDO:0000400 mixed cerebral palsy skos:exactMatch MEDGEN:148218 semapv:UnspecifiedMatching MONDO:0000400 mixed cerebral palsy skos:exactMatch NCIT:C97177 Mixed Cerebral Palsy semapv:UnspecifiedMatching MONDO:0000400 mixed cerebral palsy skos:exactMatch SCTID:702318008 semapv:UnspecifiedMatching MONDO:0000400 mixed cerebral palsy skos:exactMatch UMLS:C0751024 semapv:UnspecifiedMatching MONDO:0000400 mixed cerebral palsy skos:exactMatch icd11.foundation:1215784069 Mixed cerebral palsy syndromes semapv:UnspecifiedMatching MONDO:0000402 small cell carcinoma skos:exactMatch DOID:0050685 small cell carcinoma semapv:UnspecifiedMatching MONDO:0000402 small cell carcinoma skos:exactMatch EFO:0008524 semapv:UnspecifiedMatching MONDO:0000402 small cell carcinoma skos:exactMatch MEDGEN:90748 semapv:UnspecifiedMatching MONDO:0000402 small cell carcinoma skos:exactMatch NCIT:C3915 Small Cell Neuroendocrine Carcinoma semapv:UnspecifiedMatching MONDO:0000402 small cell carcinoma skos:exactMatch SCTID:11010461000119101 semapv:UnspecifiedMatching MONDO:0000402 small cell carcinoma skos:exactMatch UMLS:C0334239 semapv:UnspecifiedMatching MONDO:0000402 small cell carcinoma skos:exactMatch mesh:D018288 semapv:UnspecifiedMatching MONDO:0000405 anal canal cancer skos:exactMatch DOID:0050688 anal canal cancer semapv:UnspecifiedMatching MONDO:0000405 anal canal cancer skos:exactMatch ICD10CM:C21.1 Malignant neoplasm of anal canal semapv:UnspecifiedMatching MONDO:0000405 anal canal cancer skos:exactMatch MEDGEN:509296 semapv:UnspecifiedMatching MONDO:0000405 anal canal cancer skos:exactMatch SCTID:363352004 semapv:UnspecifiedMatching MONDO:0000405 anal canal cancer skos:exactMatch UMLS:C0153445 semapv:UnspecifiedMatching MONDO:0000405 anal canal cancer skos:exactMatch icd11.foundation:655574575 Malignant neoplasms of anus or anal canal semapv:UnspecifiedMatching MONDO:0000407 malignant pleural solitary fibrous tumor skos:exactMatch DOID:0050695 malignant pleural solitary fibrous tumor semapv:UnspecifiedMatching MONDO:0000407 malignant pleural solitary fibrous tumor skos:exactMatch MEDGEN:1876517 semapv:UnspecifiedMatching MONDO:0000407 malignant pleural solitary fibrous tumor skos:exactMatch UMLS:C5985025 semapv:UnspecifiedMatching MONDO:0000408 fetal alcohol spectrum disorder skos:exactMatch DOID:0050696 fetal alcohol spectrum disorder semapv:UnspecifiedMatching MONDO:0000408 fetal alcohol spectrum disorder skos:exactMatch MEDGEN:457516 semapv:UnspecifiedMatching MONDO:0000408 fetal alcohol spectrum disorder skos:exactMatch NCIT:C92780 Fetal Alcohol Spectrum Disorder semapv:UnspecifiedMatching MONDO:0000408 fetal alcohol spectrum disorder skos:exactMatch SCTID:609437000 semapv:UnspecifiedMatching MONDO:0000408 fetal alcohol spectrum disorder skos:exactMatch UMLS:C2985290 semapv:UnspecifiedMatching MONDO:0000408 fetal alcohol spectrum disorder skos:exactMatch mesh:D063647 semapv:UnspecifiedMatching MONDO:0000409 chorioamnionitis skos:exactMatch DOID:0050697 chorioamnionitis semapv:UnspecifiedMatching MONDO:0000409 chorioamnionitis skos:exactMatch ICD10CM:O41.12 Chorioamnionitis semapv:UnspecifiedMatching MONDO:0000409 chorioamnionitis skos:exactMatch MEDGEN:3056 semapv:UnspecifiedMatching MONDO:0000409 chorioamnionitis skos:exactMatch NCIT:C26720 Chorioamnionitis semapv:UnspecifiedMatching MONDO:0000409 chorioamnionitis skos:exactMatch SCTID:11612004 semapv:UnspecifiedMatching MONDO:0000409 chorioamnionitis skos:exactMatch UMLS:C0008495 semapv:UnspecifiedMatching MONDO:0000409 chorioamnionitis skos:exactMatch mesh:D002821 semapv:UnspecifiedMatching MONDO:0000410 funisitis skos:exactMatch DOID:0050698 funisitis semapv:UnspecifiedMatching MONDO:0000410 funisitis skos:exactMatch MEDGEN:226906 semapv:UnspecifiedMatching MONDO:0000410 funisitis skos:exactMatch NCIT:C97077 Funisitis semapv:UnspecifiedMatching MONDO:0000410 funisitis skos:exactMatch SCTID:396343006 semapv:UnspecifiedMatching MONDO:0000410 funisitis skos:exactMatch UMLS:C1275592 semapv:UnspecifiedMatching MONDO:0000411 obsolete electroclinical syndrome skos:exactMatch DOID:0050701 electroclinical syndrome semapv:UnspecifiedMatching MONDO:0000412 obsolete neonatal period electroclinical syndrome skos:exactMatch DOID:0050702 neonatal period electroclinical syndrome semapv:UnspecifiedMatching MONDO:0000413 obsolete infancy electroclinical syndrome skos:exactMatch DOID:0050703 infancy electroclinical syndrome semapv:UnspecifiedMatching MONDO:0000414 obsolete childhood electroclinical syndrome skos:exactMatch DOID:0050704 childhood electroclinical syndrome semapv:UnspecifiedMatching MONDO:0000415 adolescence-adult electroclinical syndrome skos:exactMatch DOID:0050705 adolescence-adult electroclinical syndrome semapv:UnspecifiedMatching MONDO:0000421 inborn serine deficiency skos:exactMatch DOID:0050721 serine deficiency semapv:UnspecifiedMatching MONDO:0000425 X-linked disease skos:exactMatch DOID:0050735 X-linked monogenic disease semapv:UnspecifiedMatching MONDO:0000425 X-linked disease skos:exactMatch MEDGEN:222910 semapv:UnspecifiedMatching MONDO:0000425 X-linked disease skos:exactMatch NCIT:C85865 X-Linked Inherited Disorder semapv:UnspecifiedMatching MONDO:0000425 X-linked disease skos:exactMatch SCTID:128430005 semapv:UnspecifiedMatching MONDO:0000425 X-linked disease skos:exactMatch UMLS:C1138434 semapv:UnspecifiedMatching MONDO:0000425 X-linked disease skos:exactMatch mesh:D040181 semapv:UnspecifiedMatching MONDO:0000426 autosomal dominant disease skos:exactMatch DOID:0050736 autosomal dominant disease semapv:UnspecifiedMatching MONDO:0000426 autosomal dominant disease skos:exactMatch MEDGEN:539206 semapv:UnspecifiedMatching MONDO:0000426 autosomal dominant disease skos:exactMatch SCTID:11164009 semapv:UnspecifiedMatching MONDO:0000426 autosomal dominant disease skos:exactMatch UMLS:C0265385 semapv:UnspecifiedMatching MONDO:0000428 Y-linked disease skos:exactMatch DOID:0050738 Y-linked monogenic disease semapv:UnspecifiedMatching MONDO:0000428 Y-linked disease skos:exactMatch MEDGEN:289655 semapv:UnspecifiedMatching MONDO:0000428 Y-linked disease skos:exactMatch UMLS:C1563751 semapv:UnspecifiedMatching MONDO:0000428 Y-linked disease skos:exactMatch mesh:D050174 semapv:UnspecifiedMatching MONDO:0000429 autosomal genetic disease skos:exactMatch DOID:0050739 autosomal genetic disease semapv:UnspecifiedMatching MONDO:0000429 autosomal genetic disease skos:exactMatch MEDGEN:539205 semapv:UnspecifiedMatching MONDO:0000429 autosomal genetic disease skos:exactMatch SCTID:1899006 semapv:UnspecifiedMatching MONDO:0000429 autosomal genetic disease skos:exactMatch UMLS:C0265384 semapv:UnspecifiedMatching MONDO:0000430 mature T-cell and NK-cell non-Hodgkin lymphoma skos:exactMatch DOID:0050743 mature T-cell and NK-cell lymphoma semapv:UnspecifiedMatching MONDO:0000430 mature T-cell and NK-cell non-Hodgkin lymphoma skos:exactMatch DOID:0050749 peripheral T-cell lymphoma semapv:UnspecifiedMatching MONDO:0000430 mature T-cell and NK-cell non-Hodgkin lymphoma skos:exactMatch ICD10CM:C84.4 Peripheral T-cell lymphoma, not elsewhere classified semapv:UnspecifiedMatching MONDO:0000430 mature T-cell and NK-cell non-Hodgkin lymphoma skos:exactMatch MEDGEN:1790498 semapv:UnspecifiedMatching MONDO:0000430 mature T-cell and NK-cell non-Hodgkin lymphoma skos:exactMatch NCIT:C3468 Mature T-Cell and NK-Cell Non-Hodgkin Lymphoma semapv:UnspecifiedMatching MONDO:0000430 mature T-cell and NK-cell non-Hodgkin lymphoma skos:exactMatch SCTID:109977009 semapv:UnspecifiedMatching MONDO:0000430 mature T-cell and NK-cell non-Hodgkin lymphoma skos:exactMatch UMLS:C5551485 semapv:UnspecifiedMatching MONDO:0000430 mature T-cell and NK-cell non-Hodgkin lymphoma skos:exactMatch mesh:D016411 semapv:UnspecifiedMatching MONDO:0000432 lymphoplasmacytic lymphoma skos:exactMatch MEDGEN:473052 semapv:UnspecifiedMatching MONDO:0000432 lymphoplasmacytic lymphoma skos:exactMatch NCIT:C3212 Lymphoplasmacytic Lymphoma semapv:UnspecifiedMatching MONDO:0000432 lymphoplasmacytic lymphoma skos:exactMatch UMLS:C0334633 semapv:UnspecifiedMatching MONDO:0000432 lymphoplasmacytic lymphoma skos:exactMatch icd11.foundation:2058944823 Lymphoplasmacytic lymphoma semapv:UnspecifiedMatching MONDO:0000437 cerebellar ataxia skos:exactMatch DOID:0050753 cerebellar ataxia semapv:UnspecifiedMatching MONDO:0000437 cerebellar ataxia skos:exactMatch MEDGEN:849 semapv:UnspecifiedMatching MONDO:0000437 cerebellar ataxia skos:exactMatch NCIT:C82341 Spinocerebellar Ataxia semapv:UnspecifiedMatching MONDO:0000437 cerebellar ataxia skos:exactMatch Orphanet:102002 Rare ataxia semapv:UnspecifiedMatching MONDO:0000437 cerebellar ataxia skos:exactMatch SCTID:85102008 semapv:UnspecifiedMatching MONDO:0000437 cerebellar ataxia skos:exactMatch UMLS:C0007758 semapv:UnspecifiedMatching MONDO:0000437 cerebellar ataxia skos:exactMatch mesh:D002524 semapv:UnspecifiedMatching MONDO:0000440 metabolic acidosis skos:exactMatch DOID:0050758 metabolic acidosis semapv:UnspecifiedMatching MONDO:0000440 metabolic acidosis skos:exactMatch MEDGEN:65117 semapv:UnspecifiedMatching MONDO:0000440 metabolic acidosis skos:exactMatch SCTID:59455009 semapv:UnspecifiedMatching MONDO:0000440 metabolic acidosis skos:exactMatch UMLS:C0220981 semapv:UnspecifiedMatching MONDO:0000446 midface dysplasia skos:exactMatch DOID:0050767 midface dysplasia semapv:UnspecifiedMatching MONDO:0000447 autosomal dominant polycystic liver disease skos:exactMatch DOID:0050770 polycystic liver disease semapv:UnspecifiedMatching MONDO:0000447 autosomal dominant polycystic liver disease skos:exactMatch ICD10CM:Q44.6 Cystic disease of liver semapv:UnspecifiedMatching MONDO:0000447 autosomal dominant polycystic liver disease skos:exactMatch MEDGEN:56388 semapv:UnspecifiedMatching MONDO:0000447 autosomal dominant polycystic liver disease skos:exactMatch NCIT:C82833 Polycystic Liver Disease semapv:UnspecifiedMatching MONDO:0000447 autosomal dominant polycystic liver disease skos:exactMatch OMIMPS:174050 Polycystic liver disease semapv:UnspecifiedMatching MONDO:0000447 autosomal dominant polycystic liver disease skos:exactMatch Orphanet:2924 Isolated polycystic liver disease semapv:UnspecifiedMatching MONDO:0000447 autosomal dominant polycystic liver disease skos:exactMatch SCTID:72925005 semapv:UnspecifiedMatching MONDO:0000447 autosomal dominant polycystic liver disease skos:exactMatch UMLS:C0158683 semapv:UnspecifiedMatching MONDO:0000447 autosomal dominant polycystic liver disease skos:exactMatch icd11.foundation:1361740083 Polycystic liver disease semapv:UnspecifiedMatching MONDO:0000447 autosomal dominant polycystic liver disease skos:exactMatch icd11.foundation:423904268 Autosomal dominant polycystic liver disease semapv:UnspecifiedMatching MONDO:0000448 paraganglioma skos:exactMatch DOID:0050773 paraganglioma semapv:UnspecifiedMatching MONDO:0000448 paraganglioma skos:exactMatch EFO:1000453 semapv:UnspecifiedMatching MONDO:0000448 paraganglioma skos:exactMatch MEDGEN:10571 semapv:UnspecifiedMatching MONDO:0000448 paraganglioma skos:exactMatch NCIT:C3308 Paraganglioma semapv:UnspecifiedMatching MONDO:0000448 paraganglioma skos:exactMatch SCTID:127027008 semapv:UnspecifiedMatching MONDO:0000448 paraganglioma skos:exactMatch UMLS:C0030421 semapv:UnspecifiedMatching MONDO:0000448 paraganglioma skos:exactMatch mesh:D010235 semapv:UnspecifiedMatching MONDO:0000450 secondary progressive multiple sclerosis skos:exactMatch DOID:0050783 secondary progressive multiple sclerosis semapv:UnspecifiedMatching MONDO:0000450 secondary progressive multiple sclerosis skos:exactMatch EFO:0008522 semapv:UnspecifiedMatching MONDO:0000450 secondary progressive multiple sclerosis skos:exactMatch MEDGEN:155969 semapv:UnspecifiedMatching MONDO:0000450 secondary progressive multiple sclerosis skos:exactMatch SCTID:425500002 semapv:UnspecifiedMatching MONDO:0000450 secondary progressive multiple sclerosis skos:exactMatch UMLS:C0751965 semapv:UnspecifiedMatching MONDO:0000450 secondary progressive multiple sclerosis skos:exactMatch icd11.foundation:1045965709 Secondary progressive multiple sclerosis semapv:UnspecifiedMatching MONDO:0000451 primary progressive multiple sclerosis skos:exactMatch DOID:0050784 primary progressive multiple sclerosis semapv:UnspecifiedMatching MONDO:0000451 primary progressive multiple sclerosis skos:exactMatch EFO:0008520 semapv:UnspecifiedMatching MONDO:0000451 primary progressive multiple sclerosis skos:exactMatch MEDGEN:155968 semapv:UnspecifiedMatching MONDO:0000451 primary progressive multiple sclerosis skos:exactMatch SCTID:428700003 semapv:UnspecifiedMatching MONDO:0000451 primary progressive multiple sclerosis skos:exactMatch UMLS:C0751964 semapv:UnspecifiedMatching MONDO:0000451 primary progressive multiple sclerosis skos:exactMatch icd11.foundation:1020720762 Primary progressive multiple sclerosis semapv:UnspecifiedMatching MONDO:0000452 progressive relapsing multiple sclerosis skos:exactMatch DOID:0050785 progressive relapsing multiple sclerosis semapv:UnspecifiedMatching MONDO:0000452 progressive relapsing multiple sclerosis skos:exactMatch MEDGEN:95982 semapv:UnspecifiedMatching MONDO:0000452 progressive relapsing multiple sclerosis skos:exactMatch SCTID:230374002 semapv:UnspecifiedMatching MONDO:0000452 progressive relapsing multiple sclerosis skos:exactMatch UMLS:C0393666 semapv:UnspecifiedMatching MONDO:0000453 short QT syndrome skos:exactMatch DOID:0050793 short QT syndrome semapv:UnspecifiedMatching MONDO:0000453 short QT syndrome skos:exactMatch MEDGEN:378835 semapv:UnspecifiedMatching MONDO:0000453 short QT syndrome skos:exactMatch NCIT:C71060 Short QT Syndrome semapv:UnspecifiedMatching MONDO:0000453 short QT syndrome skos:exactMatch OMIMPS:609620 Short QT syndrome semapv:UnspecifiedMatching MONDO:0000453 short QT syndrome skos:exactMatch Orphanet:51083 Congenital short QT syndrome semapv:UnspecifiedMatching MONDO:0000453 short QT syndrome skos:exactMatch SCTID:698272007 semapv:UnspecifiedMatching MONDO:0000453 short QT syndrome skos:exactMatch UMLS:C2348199 semapv:UnspecifiedMatching MONDO:0000453 short QT syndrome skos:exactMatch icd11.foundation:553392015 Short QT syndrome semapv:UnspecifiedMatching MONDO:0000453 short QT syndrome skos:exactMatch mesh:C580439 semapv:UnspecifiedMatching MONDO:0000455 cone dystrophy skos:exactMatch DOID:0050795 cone dystrophy semapv:UnspecifiedMatching MONDO:0000455 cone dystrophy skos:exactMatch MEDGEN:676499 semapv:UnspecifiedMatching MONDO:0000455 cone dystrophy skos:exactMatch Orphanet:1871 Progressive cone dystrophy semapv:UnspecifiedMatching MONDO:0000455 cone dystrophy skos:exactMatch SCTID:312917007 semapv:UnspecifiedMatching MONDO:0000455 cone dystrophy skos:exactMatch UMLS:C0730290 semapv:UnspecifiedMatching MONDO:0000455 cone dystrophy skos:exactMatch mesh:D000077765 semapv:UnspecifiedMatching MONDO:0000456 cerebral creatine deficiency syndrome skos:exactMatch DOID:0050798 cerebral creatine deficiency syndrome semapv:UnspecifiedMatching MONDO:0000456 cerebral creatine deficiency syndrome skos:exactMatch MEDGEN:1826001 semapv:UnspecifiedMatching MONDO:0000456 cerebral creatine deficiency syndrome skos:exactMatch OMIMPS:300352 Cerebral creatine deficiency syndrome semapv:UnspecifiedMatching MONDO:0000456 cerebral creatine deficiency syndrome skos:exactMatch Orphanet:79172 Creatine deficiency syndrome semapv:UnspecifiedMatching MONDO:0000456 cerebral creatine deficiency syndrome skos:exactMatch UMLS:C5244016 semapv:UnspecifiedMatching MONDO:0000457 classical glioblastoma skos:exactMatch DOID:0050803 glioblastoma classical subtype semapv:UnspecifiedMatching MONDO:0000457 classical glioblastoma skos:exactMatch MEDGEN:820001 semapv:UnspecifiedMatching MONDO:0000457 classical glioblastoma skos:exactMatch NCIT:C111694 Classical Glioblastoma semapv:UnspecifiedMatching MONDO:0000457 classical glioblastoma skos:exactMatch UMLS:C3827253 semapv:UnspecifiedMatching MONDO:0000458 proneural glioblastoma skos:exactMatch DOID:0050804 glioblastoma proneural subtype semapv:UnspecifiedMatching MONDO:0000458 proneural glioblastoma skos:exactMatch MEDGEN:821212 semapv:UnspecifiedMatching MONDO:0000458 proneural glioblastoma skos:exactMatch NCIT:C111692 Proneural Glioblastoma semapv:UnspecifiedMatching MONDO:0000458 proneural glioblastoma skos:exactMatch UMLS:C3828464 semapv:UnspecifiedMatching MONDO:0000459 mesenchymal glioblastoma skos:exactMatch DOID:0050805 glioblastoma mesenchymal subtype semapv:UnspecifiedMatching MONDO:0000459 mesenchymal glioblastoma skos:exactMatch MEDGEN:821870 semapv:UnspecifiedMatching MONDO:0000459 mesenchymal glioblastoma skos:exactMatch NCIT:C111695 Mesenchymal Glioblastoma semapv:UnspecifiedMatching MONDO:0000459 mesenchymal glioblastoma skos:exactMatch UMLS:C3829122 semapv:UnspecifiedMatching MONDO:0000460 neural glioblastoma skos:exactMatch DOID:0050806 glioblastoma neural subtype semapv:UnspecifiedMatching MONDO:0000460 neural glioblastoma skos:exactMatch MEDGEN:821580 semapv:UnspecifiedMatching MONDO:0000460 neural glioblastoma skos:exactMatch NCIT:C111693 Neural Glioblastoma semapv:UnspecifiedMatching MONDO:0000460 neural glioblastoma skos:exactMatch UMLS:C3828832 semapv:UnspecifiedMatching MONDO:0000461 nutritional biotin deficiency skos:exactMatch DOID:0050810 biotin deficiency semapv:UnspecifiedMatching MONDO:0000461 nutritional biotin deficiency skos:exactMatch MEDGEN:785975 semapv:UnspecifiedMatching MONDO:0000461 nutritional biotin deficiency skos:exactMatch SCTID:49607006 semapv:UnspecifiedMatching MONDO:0000461 nutritional biotin deficiency skos:exactMatch UMLS:C3714396 semapv:UnspecifiedMatching MONDO:0000461 nutritional biotin deficiency skos:exactMatch mesh:C531633 semapv:UnspecifiedMatching MONDO:0000462 eye adnexa disorder skos:exactMatch EFO:0009546 semapv:UnspecifiedMatching MONDO:0000462 eye adnexa disorder skos:exactMatch ICD10WHO:H00-H06 Disorders of eyelid, lacrimal system and orbit semapv:UnspecifiedMatching MONDO:0000462 eye adnexa disorder skos:exactMatch MEDGEN:713201 semapv:UnspecifiedMatching MONDO:0000462 eye adnexa disorder skos:exactMatch SCTID:118941004 semapv:UnspecifiedMatching MONDO:0000462 eye adnexa disorder skos:exactMatch UMLS:C1290855 semapv:UnspecifiedMatching MONDO:0000463 Ochoa syndrome skos:exactMatch DOID:0050816 urofacial syndrome semapv:UnspecifiedMatching MONDO:0000463 Ochoa syndrome skos:exactMatch MEDGEN:98015 semapv:UnspecifiedMatching MONDO:0000463 Ochoa syndrome skos:exactMatch OMIMPS:236730 Urofacial syndrome semapv:UnspecifiedMatching MONDO:0000463 Ochoa syndrome skos:exactMatch Orphanet:2704 Urofacial syndrome semapv:UnspecifiedMatching MONDO:0000463 Ochoa syndrome skos:exactMatch SCTID:236533008 semapv:UnspecifiedMatching MONDO:0000463 Ochoa syndrome skos:exactMatch UMLS:C0403555 semapv:UnspecifiedMatching MONDO:0000463 Ochoa syndrome skos:exactMatch icd11.foundation:443886910 Ochoa syndrome semapv:UnspecifiedMatching MONDO:0000463 Ochoa syndrome skos:exactMatch mesh:C536480 semapv:UnspecifiedMatching MONDO:0000465 atrioventricular block skos:exactMatch DOID:0050820 atrioventricular block semapv:UnspecifiedMatching MONDO:0000465 atrioventricular block skos:exactMatch MEDGEN:13956 semapv:UnspecifiedMatching MONDO:0000465 atrioventricular block skos:exactMatch SCTID:233917008 semapv:UnspecifiedMatching MONDO:0000465 atrioventricular block skos:exactMatch UMLS:C0004245 semapv:UnspecifiedMatching MONDO:0000465 atrioventricular block skos:exactMatch mesh:D054537 semapv:UnspecifiedMatching MONDO:0000466 first-degree atrioventricular block skos:exactMatch DOID:0050821 first-degree atrioventricular block semapv:UnspecifiedMatching MONDO:0000466 first-degree atrioventricular block skos:exactMatch ICD10CM:I44.0 Atrioventricular block, first degree semapv:UnspecifiedMatching MONDO:0000466 first-degree atrioventricular block skos:exactMatch MEDGEN:43215 semapv:UnspecifiedMatching MONDO:0000466 first-degree atrioventricular block skos:exactMatch NCIT:C62015 AV Block First Degree semapv:UnspecifiedMatching MONDO:0000466 first-degree atrioventricular block skos:exactMatch SCTID:270492004 semapv:UnspecifiedMatching MONDO:0000466 first-degree atrioventricular block skos:exactMatch UMLS:C0085614 semapv:UnspecifiedMatching MONDO:0000466 first-degree atrioventricular block skos:exactMatch icd11.foundation:1438248929 Atrioventricular block, first degree semapv:UnspecifiedMatching MONDO:0000467 second-degree atrioventricular block skos:exactMatch DOID:0050822 second-degree atrioventricular block semapv:UnspecifiedMatching MONDO:0000467 second-degree atrioventricular block skos:exactMatch ICD10CM:I44.1 Atrioventricular block, second degree semapv:UnspecifiedMatching MONDO:0000467 second-degree atrioventricular block skos:exactMatch MEDGEN:75546 semapv:UnspecifiedMatching MONDO:0000467 second-degree atrioventricular block skos:exactMatch NCIT:C111119 AV Block Second Degree semapv:UnspecifiedMatching MONDO:0000467 second-degree atrioventricular block skos:exactMatch SCTID:195042002 semapv:UnspecifiedMatching MONDO:0000467 second-degree atrioventricular block skos:exactMatch UMLS:C0264906 semapv:UnspecifiedMatching MONDO:0000467 second-degree atrioventricular block skos:exactMatch icd11.foundation:821174901 Atrioventricular block, second degree semapv:UnspecifiedMatching MONDO:0000468 third-degree atrioventricular block skos:exactMatch DOID:0050823 third-degree atrioventricular block semapv:UnspecifiedMatching MONDO:0000468 third-degree atrioventricular block skos:exactMatch MEDGEN:56230 semapv:UnspecifiedMatching MONDO:0000468 third-degree atrioventricular block skos:exactMatch NCIT:C50501 Complete Atrioventricular Block semapv:UnspecifiedMatching MONDO:0000468 third-degree atrioventricular block skos:exactMatch SCTID:27885002 semapv:UnspecifiedMatching MONDO:0000468 third-degree atrioventricular block skos:exactMatch UMLS:C0151517 semapv:UnspecifiedMatching MONDO:0000468 third-degree atrioventricular block skos:exactMatch icd11.foundation:1147105932 Complete atrioventricular block semapv:UnspecifiedMatching MONDO:0000469 sinoatrial node disorder skos:exactMatch DOID:0050824 sinoatrial node disease semapv:UnspecifiedMatching MONDO:0000469 sinoatrial node disorder skos:exactMatch MEDGEN:98448 semapv:UnspecifiedMatching MONDO:0000469 sinoatrial node disorder skos:exactMatch UMLS:C0428908 semapv:UnspecifiedMatching MONDO:0000470 endocardium disorder skos:exactMatch DOID:0050825 endocardium disease semapv:UnspecifiedMatching MONDO:0000470 endocardium disorder skos:exactMatch MEDGEN:678520 semapv:UnspecifiedMatching MONDO:0000470 endocardium disorder skos:exactMatch SCTID:123596001 semapv:UnspecifiedMatching MONDO:0000470 endocardium disorder skos:exactMatch UMLS:C0854140 semapv:UnspecifiedMatching MONDO:0000471 tricuspid valve disorder skos:exactMatch DOID:0050826 tricuspid valve disease semapv:UnspecifiedMatching MONDO:0000471 tricuspid valve disorder skos:exactMatch EFO:0009568 semapv:UnspecifiedMatching MONDO:0000471 tricuspid valve disorder skos:exactMatch MEDGEN:120507 semapv:UnspecifiedMatching MONDO:0000471 tricuspid valve disorder skos:exactMatch NCIT:C78649 Tricuspid Valve Disorder semapv:UnspecifiedMatching MONDO:0000471 tricuspid valve disorder skos:exactMatch SCTID:20721001 semapv:UnspecifiedMatching MONDO:0000471 tricuspid valve disorder skos:exactMatch UMLS:C0264882 semapv:UnspecifiedMatching MONDO:0000471 tricuspid valve disorder skos:exactMatch icd11.foundation:1843615838 Tricuspid valve disease semapv:UnspecifiedMatching MONDO:0000473 arterial disorder skos:exactMatch DOID:0050828 artery disease semapv:UnspecifiedMatching MONDO:0000473 arterial disorder skos:exactMatch MEDGEN:208875 semapv:UnspecifiedMatching MONDO:0000473 arterial disorder skos:exactMatch NCIT:C35317 Arterial Disorder semapv:UnspecifiedMatching MONDO:0000473 arterial disorder skos:exactMatch SCTID:359557001 semapv:UnspecifiedMatching MONDO:0000473 arterial disorder skos:exactMatch UMLS:C0852949 semapv:UnspecifiedMatching MONDO:0000474 pericardium disorder skos:exactMatch DOID:0050829 pericardium disease semapv:UnspecifiedMatching MONDO:0000474 pericardium disorder skos:exactMatch MEDGEN:539093 semapv:UnspecifiedMatching MONDO:0000474 pericardium disorder skos:exactMatch SCTID:55855009 semapv:UnspecifiedMatching MONDO:0000474 pericardium disorder skos:exactMatch UMLS:C0265122 semapv:UnspecifiedMatching MONDO:0000476 generalized dystonia skos:exactMatch DOID:0050835 generalized dystonia semapv:UnspecifiedMatching MONDO:0000476 generalized dystonia skos:exactMatch MEDGEN:341342 semapv:UnspecifiedMatching MONDO:0000476 generalized dystonia skos:exactMatch Orphanet:376724 Generalized isolated dystonia semapv:UnspecifiedMatching MONDO:0000476 generalized dystonia skos:exactMatch SCTID:425492002 semapv:UnspecifiedMatching MONDO:0000476 generalized dystonia skos:exactMatch UMLS:C1848954 semapv:UnspecifiedMatching MONDO:0000476 generalized dystonia skos:exactMatch mesh:D004422 semapv:UnspecifiedMatching MONDO:0000477 focal dystonia skos:exactMatch DOID:0050836 focal dystonia semapv:UnspecifiedMatching MONDO:0000477 focal dystonia skos:exactMatch MEDGEN:149279 semapv:UnspecifiedMatching MONDO:0000477 focal dystonia skos:exactMatch SCTID:445006008 semapv:UnspecifiedMatching MONDO:0000477 focal dystonia skos:exactMatch UMLS:C0743332 semapv:UnspecifiedMatching MONDO:0000478 multifocal dystonia skos:exactMatch DOID:0050837 multifocal dystonia semapv:UnspecifiedMatching MONDO:0000479 segmental dystonia skos:exactMatch DOID:0050838 segmental dystonia semapv:UnspecifiedMatching MONDO:0000479 segmental dystonia skos:exactMatch MEDGEN:744778 semapv:UnspecifiedMatching MONDO:0000479 segmental dystonia skos:exactMatch SCTID:427945008 semapv:UnspecifiedMatching MONDO:0000479 segmental dystonia skos:exactMatch UMLS:C1997740 semapv:UnspecifiedMatching MONDO:0000480 anismus skos:exactMatch DOID:0050839 anismus semapv:UnspecifiedMatching MONDO:0000480 anismus skos:exactMatch MEDGEN:540810 semapv:UnspecifiedMatching MONDO:0000480 anismus skos:exactMatch SCTID:83605009 semapv:UnspecifiedMatching MONDO:0000480 anismus skos:exactMatch UMLS:C0267601 semapv:UnspecifiedMatching MONDO:0000481 cervical dystonia skos:exactMatch DOID:0050840 cervical dystonia semapv:UnspecifiedMatching MONDO:0000481 cervical dystonia skos:exactMatch MEDGEN:101818 semapv:UnspecifiedMatching MONDO:0000481 cervical dystonia skos:exactMatch NCIT:C85072 Spasmodic Torticollis semapv:UnspecifiedMatching MONDO:0000481 cervical dystonia skos:exactMatch SCTID:74333002 semapv:UnspecifiedMatching MONDO:0000481 cervical dystonia skos:exactMatch UMLS:C0152116 semapv:UnspecifiedMatching MONDO:0000481 cervical dystonia skos:exactMatch icd11.foundation:1435836279 Cervical dystonia semapv:UnspecifiedMatching MONDO:0000482 focal hand dystonia skos:exactMatch DOID:0050841 focal hand dystonia semapv:UnspecifiedMatching MONDO:0000482 focal hand dystonia skos:exactMatch MEDGEN:57821 semapv:UnspecifiedMatching MONDO:0000482 focal hand dystonia skos:exactMatch SCTID:52008007 semapv:UnspecifiedMatching MONDO:0000482 focal hand dystonia skos:exactMatch UMLS:C0154676 semapv:UnspecifiedMatching MONDO:0000483 oculogyric crisis skos:exactMatch DOID:0050842 oculogyric crisis semapv:UnspecifiedMatching MONDO:0000483 oculogyric crisis skos:exactMatch MEDGEN:43221 semapv:UnspecifiedMatching MONDO:0000483 oculogyric crisis skos:exactMatch UMLS:C0085637 semapv:UnspecifiedMatching MONDO:0000483 oculogyric crisis skos:exactMatch icd11.foundation:1191930451 Oculogyric crisis semapv:UnspecifiedMatching MONDO:0000485 spasmodic dystonia skos:exactMatch DOID:0050844 spasmodic dystonia semapv:UnspecifiedMatching MONDO:0000485 spasmodic dystonia skos:exactMatch MEDGEN:409603 semapv:UnspecifiedMatching MONDO:0000485 spasmodic dystonia skos:exactMatch SCTID:3331000119108 semapv:UnspecifiedMatching MONDO:0000485 spasmodic dystonia skos:exactMatch UMLS:C1963946 semapv:UnspecifiedMatching MONDO:0000485 spasmodic dystonia skos:exactMatch mesh:D055154 semapv:UnspecifiedMatching MONDO:0000486 craniofacial dystonia skos:exactMatch DOID:0050845 cranio-facial dystonia semapv:UnspecifiedMatching MONDO:0000486 craniofacial dystonia skos:exactMatch MEDGEN:868612 semapv:UnspecifiedMatching MONDO:0000486 craniofacial dystonia skos:exactMatch UMLS:C4023011 semapv:UnspecifiedMatching MONDO:0000487 hemidystonia skos:exactMatch DOID:0050846 hemidystonia semapv:UnspecifiedMatching MONDO:0000487 hemidystonia skos:exactMatch MEDGEN:743329 semapv:UnspecifiedMatching MONDO:0000487 hemidystonia skos:exactMatch SCTID:427232004 semapv:UnspecifiedMatching MONDO:0000487 hemidystonia skos:exactMatch UMLS:C1960561 semapv:UnspecifiedMatching MONDO:0000488 periampullary adenoma skos:exactMatch DOID:0050849 periampullary adenoma semapv:UnspecifiedMatching MONDO:0000489 diabetic encephalopathy skos:exactMatch DOID:0050850 diabetic encephalopathy semapv:UnspecifiedMatching MONDO:0000489 diabetic encephalopathy skos:exactMatch MEDGEN:1806599 semapv:UnspecifiedMatching MONDO:0000489 diabetic encephalopathy skos:exactMatch UMLS:C1868773 semapv:UnspecifiedMatching MONDO:0000490 glomerulosclerosis skos:exactMatch DOID:0050851 glomerulosclerosis semapv:UnspecifiedMatching MONDO:0000490 glomerulosclerosis skos:exactMatch MEDGEN:61248 semapv:UnspecifiedMatching MONDO:0000490 glomerulosclerosis skos:exactMatch NCIT:C120888 Glomerulosclerosis semapv:UnspecifiedMatching MONDO:0000490 glomerulosclerosis skos:exactMatch SCTID:197661001 semapv:UnspecifiedMatching MONDO:0000490 glomerulosclerosis skos:exactMatch UMLS:C0178664 semapv:UnspecifiedMatching MONDO:0000490 glomerulosclerosis skos:exactMatch icd11.foundation:2068645853 Glomerulosclerosis semapv:UnspecifiedMatching MONDO:0000491 limb ischemia skos:exactMatch DOID:0050852 limb ischemia semapv:UnspecifiedMatching MONDO:0000491 limb ischemia skos:exactMatch MEDGEN:754513 semapv:UnspecifiedMatching MONDO:0000491 limb ischemia skos:exactMatch SCTID:21631000119105 semapv:UnspecifiedMatching MONDO:0000491 limb ischemia skos:exactMatch UMLS:C2945695 semapv:UnspecifiedMatching MONDO:0000492 chronic venous insufficiency skos:exactMatch DOID:0050853 chronic venous insufficiency semapv:UnspecifiedMatching MONDO:0000492 chronic venous insufficiency skos:exactMatch MEDGEN:727071 semapv:UnspecifiedMatching MONDO:0000492 chronic venous insufficiency skos:exactMatch UMLS:C1306557 semapv:UnspecifiedMatching MONDO:0000494 renal fibrosis skos:exactMatch DOID:0050855 renal fibrosis semapv:UnspecifiedMatching MONDO:0000494 renal fibrosis skos:exactMatch EFO:1001517 semapv:UnspecifiedMatching MONDO:0000494 renal fibrosis skos:exactMatch MEDGEN:508798 semapv:UnspecifiedMatching MONDO:0000494 renal fibrosis skos:exactMatch SCTID:197660000 semapv:UnspecifiedMatching MONDO:0000494 renal fibrosis skos:exactMatch UMLS:C0151650 semapv:UnspecifiedMatching MONDO:0000495 oppositional defiant disorder skos:exactMatch DOID:0050856 oppositional defiant disorder semapv:UnspecifiedMatching MONDO:0000495 oppositional defiant disorder skos:exactMatch ICD10CM:F91.3 Oppositional defiant disorder semapv:UnspecifiedMatching MONDO:0000495 oppositional defiant disorder skos:exactMatch MEDGEN:18178 semapv:UnspecifiedMatching MONDO:0000495 oppositional defiant disorder skos:exactMatch NCIT:C92565 Oppositional Defiant Disorder semapv:UnspecifiedMatching MONDO:0000495 oppositional defiant disorder skos:exactMatch SCTID:18941000 semapv:UnspecifiedMatching MONDO:0000495 oppositional defiant disorder skos:exactMatch UMLS:C0029121 semapv:UnspecifiedMatching MONDO:0000495 oppositional defiant disorder skos:exactMatch icd11.foundation:1487528823 Oppositional defiant disorder semapv:UnspecifiedMatching MONDO:0000495 oppositional defiant disorder skos:exactMatch mesh:D019958 semapv:UnspecifiedMatching MONDO:0000496 hemorrhagic cystitis skos:exactMatch DOID:0050859 hemorrhagic cystitis semapv:UnspecifiedMatching MONDO:0000496 hemorrhagic cystitis skos:exactMatch MEDGEN:508360 semapv:UnspecifiedMatching MONDO:0000496 hemorrhagic cystitis skos:exactMatch NCIT:C114666 Hemorrhagic Cystitis semapv:UnspecifiedMatching MONDO:0000496 hemorrhagic cystitis skos:exactMatch SCTID:87696004 semapv:UnspecifiedMatching MONDO:0000496 hemorrhagic cystitis skos:exactMatch UMLS:C0085692 semapv:UnspecifiedMatching MONDO:0000497 pyometritis skos:exactMatch DOID:0050862 pyometritis semapv:UnspecifiedMatching MONDO:0000497 pyometritis skos:exactMatch MEDGEN:18784 semapv:UnspecifiedMatching MONDO:0000497 pyometritis skos:exactMatch NCIT:C121207 Pyometra semapv:UnspecifiedMatching MONDO:0000497 pyometritis skos:exactMatch SCTID:88981003 semapv:UnspecifiedMatching MONDO:0000497 pyometritis skos:exactMatch UMLS:C0034215 semapv:UnspecifiedMatching MONDO:0000497 pyometritis skos:exactMatch mesh:D055112 semapv:UnspecifiedMatching MONDO:0000498 arteritic anterior ischemic optic neuropathy skos:exactMatch DOID:0050863 arteritic anterior ischemic optic neuropathy semapv:UnspecifiedMatching MONDO:0000498 arteritic anterior ischemic optic neuropathy skos:exactMatch MEDGEN:1378092 semapv:UnspecifiedMatching MONDO:0000498 arteritic anterior ischemic optic neuropathy skos:exactMatch SCTID:733506009 semapv:UnspecifiedMatching MONDO:0000498 arteritic anterior ischemic optic neuropathy skos:exactMatch UMLS:C2242711 semapv:UnspecifiedMatching MONDO:0000498 arteritic anterior ischemic optic neuropathy skos:exactMatch icd11.foundation:815828716 Arteritic anterior ischemic optic neuropathy semapv:UnspecifiedMatching MONDO:0000499 non-arteritic anterior ischemic optic neuropathy skos:exactMatch DOID:0050864 non-arteritic anterior ischemic optic neuropathy semapv:UnspecifiedMatching MONDO:0000499 non-arteritic anterior ischemic optic neuropathy skos:exactMatch MEDGEN:338887 semapv:UnspecifiedMatching MONDO:0000499 non-arteritic anterior ischemic optic neuropathy skos:exactMatch UMLS:C1852242 semapv:UnspecifiedMatching MONDO:0000499 non-arteritic anterior ischemic optic neuropathy skos:exactMatch icd11.foundation:8640162 Non-arteritic anterior ischemic optic neuropathy semapv:UnspecifiedMatching MONDO:0000500 tongue squamous cell carcinoma skos:exactMatch DOID:0050865 tongue squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0000500 tongue squamous cell carcinoma skos:exactMatch MEDGEN:91153 semapv:UnspecifiedMatching MONDO:0000500 tongue squamous cell carcinoma skos:exactMatch NCIT:C4648 Tongue Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0000500 tongue squamous cell carcinoma skos:exactMatch SCTID:276952000 semapv:UnspecifiedMatching MONDO:0000500 tongue squamous cell carcinoma skos:exactMatch UMLS:C0349566 semapv:UnspecifiedMatching MONDO:0000501 obsolete Jensen syndrome skos:exactMatch DOID:0050867 obsolete Jensen syndrome semapv:UnspecifiedMatching MONDO:0000501 obsolete Jensen syndrome skos:exactMatch mesh:C537568 semapv:UnspecifiedMatching MONDO:0000502 villous adenoma skos:exactMatch DOID:0050869 villous adenoma semapv:UnspecifiedMatching MONDO:0000502 villous adenoma skos:exactMatch MEDGEN:60206 semapv:UnspecifiedMatching MONDO:0000502 villous adenoma skos:exactMatch NCIT:C7399 Gastrointestinal Tract Villous Adenoma semapv:UnspecifiedMatching MONDO:0000502 villous adenoma skos:exactMatch UMLS:C0206674 semapv:UnspecifiedMatching MONDO:0000502 villous adenoma skos:exactMatch mesh:D018253 semapv:UnspecifiedMatching MONDO:0000503 lung adenocarcinoma in situ skos:exactMatch DOID:0050870 pulmonary adenocarcinoma in situ semapv:UnspecifiedMatching MONDO:0000503 lung adenocarcinoma in situ skos:exactMatch MEDGEN:1620128 semapv:UnspecifiedMatching MONDO:0000503 lung adenocarcinoma in situ skos:exactMatch NCIT:C136486 Lung Adenocarcinoma In Situ semapv:UnspecifiedMatching MONDO:0000503 lung adenocarcinoma in situ skos:exactMatch UMLS:C4521520 semapv:UnspecifiedMatching MONDO:0000507 inclusion body myopathy with Paget disease of bone and frontotemporal dementia skos:exactMatch DOID:0050881 inclusion body myopathy with Paget disease of bone and frontotemporal dementia semapv:UnspecifiedMatching MONDO:0000507 inclusion body myopathy with Paget disease of bone and frontotemporal dementia skos:exactMatch MEDGEN:322251 semapv:UnspecifiedMatching MONDO:0000507 inclusion body myopathy with Paget disease of bone and frontotemporal dementia skos:exactMatch OMIMPS:167320 Inclusion body myopathy/Paget disease/frontotemporal dementia semapv:UnspecifiedMatching MONDO:0000507 inclusion body myopathy with Paget disease of bone and frontotemporal dementia skos:exactMatch Orphanet:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia semapv:UnspecifiedMatching MONDO:0000507 inclusion body myopathy with Paget disease of bone and frontotemporal dementia skos:exactMatch SCTID:703544004 semapv:UnspecifiedMatching MONDO:0000507 inclusion body myopathy with Paget disease of bone and frontotemporal dementia skos:exactMatch UMLS:C1833662 semapv:UnspecifiedMatching MONDO:0000507 inclusion body myopathy with Paget disease of bone and frontotemporal dementia skos:exactMatch icd11.foundation:1947548457 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia semapv:UnspecifiedMatching MONDO:0000508 syndromic intellectual disability skos:exactMatch DOID:0050888 syndromic intellectual disability semapv:UnspecifiedMatching MONDO:0000508 syndromic intellectual disability skos:exactMatch MEDGEN:1842178 semapv:UnspecifiedMatching MONDO:0000508 syndromic intellectual disability skos:exactMatch UMLS:C5680525 semapv:UnspecifiedMatching MONDO:0000509 non-syndromic intellectual disability skos:exactMatch DOID:0050889 non-syndromic intellectual disability semapv:UnspecifiedMatching MONDO:0000510 synucleinopathy skos:exactMatch DOID:0050890 synucleinopathy semapv:UnspecifiedMatching MONDO:0000510 synucleinopathy skos:exactMatch MEDGEN:1682194 semapv:UnspecifiedMatching MONDO:0000510 synucleinopathy skos:exactMatch UMLS:C5191670 semapv:UnspecifiedMatching MONDO:0000510 synucleinopathy skos:exactMatch mesh:D000080874 semapv:UnspecifiedMatching MONDO:0000513 bone ameloblastoma skos:exactMatch DOID:0050895 bone ameloblastoma semapv:UnspecifiedMatching MONDO:0000514 bone squamous cell carcinoma skos:exactMatch DOID:0050896 bone squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0000515 bone chondrosarcoma skos:exactMatch DOID:0050897 bone chondrosarcoma semapv:UnspecifiedMatching MONDO:0000515 bone chondrosarcoma skos:exactMatch MEDGEN:756255 semapv:UnspecifiedMatching MONDO:0000515 bone chondrosarcoma skos:exactMatch UMLS:C3163843 semapv:UnspecifiedMatching MONDO:0000516 phalanx chondroma skos:exactMatch DOID:0050898 phalanx chondroma semapv:UnspecifiedMatching MONDO:0000517 brain stem medulloblastoma skos:exactMatch DOID:0050899 brain stem medulloblastoma semapv:UnspecifiedMatching MONDO:0000518 sacrum chordoma skos:exactMatch DOID:0050900 sacrum chordoma semapv:UnspecifiedMatching MONDO:0000518 sacrum chordoma skos:exactMatch MEDGEN:756688 semapv:UnspecifiedMatching MONDO:0000518 sacrum chordoma skos:exactMatch NCIT:C129927 Sacral Chordoma semapv:UnspecifiedMatching MONDO:0000518 sacrum chordoma skos:exactMatch SCTID:447730004 semapv:UnspecifiedMatching MONDO:0000518 sacrum chordoma skos:exactMatch UMLS:C3164279 semapv:UnspecifiedMatching MONDO:0000519 corpus callosum oligodendroglioma skos:exactMatch DOID:0050901 corpus callosum oligodendroglioma semapv:UnspecifiedMatching MONDO:0000520 parietal lobe ependymal tumor skos:exactMatch DOID:0050903 parietal lobe ependymoma semapv:UnspecifiedMatching MONDO:0000520 parietal lobe ependymal tumor skos:exactMatch MEDGEN:1392382 semapv:UnspecifiedMatching MONDO:0000520 parietal lobe ependymal tumor skos:exactMatch NCIT:C131575 Parietal Lobe Ependymal Tumor semapv:UnspecifiedMatching MONDO:0000520 parietal lobe ependymal tumor skos:exactMatch UMLS:C4330935 semapv:UnspecifiedMatching MONDO:0000521 salivary gland carcinoma skos:exactMatch DOID:0050904 salivary gland carcinoma semapv:UnspecifiedMatching MONDO:0000521 salivary gland carcinoma skos:exactMatch MEDGEN:215302 semapv:UnspecifiedMatching MONDO:0000521 salivary gland carcinoma skos:exactMatch NCIT:C9272 Salivary Gland Carcinoma semapv:UnspecifiedMatching MONDO:0000521 salivary gland carcinoma skos:exactMatch UMLS:C0948750 semapv:UnspecifiedMatching MONDO:0000524 mixed extragonadal germ cell cancer skos:exactMatch DOID:0050907 mixed extragonadal germ cell cancer semapv:UnspecifiedMatching MONDO:0000525 cecum villous adenoma skos:exactMatch DOID:0050910 cecum adenoma semapv:UnspecifiedMatching MONDO:0000525 cecum villous adenoma skos:exactMatch EFO:1000155 semapv:UnspecifiedMatching MONDO:0000525 cecum villous adenoma skos:exactMatch MEDGEN:272438 semapv:UnspecifiedMatching MONDO:0000525 cecum villous adenoma skos:exactMatch NCIT:C5520 Cecum Villous Adenoma semapv:UnspecifiedMatching MONDO:0000525 cecum villous adenoma skos:exactMatch UMLS:C1332869 semapv:UnspecifiedMatching MONDO:0000527 colon adenoma skos:exactMatch DOID:0050912 colon adenoma semapv:UnspecifiedMatching MONDO:0000527 colon adenoma skos:exactMatch MEDGEN:1639098 semapv:UnspecifiedMatching MONDO:0000527 colon adenoma skos:exactMatch NCIT:C3864 Colon Adenoma semapv:UnspecifiedMatching MONDO:0000527 colon adenoma skos:exactMatch UMLS:C4551463 semapv:UnspecifiedMatching MONDO:0000530 rectum adenoma skos:exactMatch DOID:0050915 rectal adenoma semapv:UnspecifiedMatching MONDO:0000530 rectum adenoma skos:exactMatch MEDGEN:266267 semapv:UnspecifiedMatching MONDO:0000530 rectum adenoma skos:exactMatch NCIT:C5546 Rectal Adenoma semapv:UnspecifiedMatching MONDO:0000530 rectum adenoma skos:exactMatch SCTID:399730005 semapv:UnspecifiedMatching MONDO:0000530 rectum adenoma skos:exactMatch UMLS:C1302652 semapv:UnspecifiedMatching MONDO:0000531 bronchus mucoepidermoid carcinoma skos:exactMatch DOID:0050916 bronchus mucoepidermoid carcinoma semapv:UnspecifiedMatching MONDO:0000532 lung combined type small cell adenocarcinoma skos:exactMatch DOID:0050917 lung combined type small cell adenocarcinoma semapv:UnspecifiedMatching MONDO:0000532 lung combined type small cell adenocarcinoma skos:exactMatch MEDGEN:231029 semapv:UnspecifiedMatching MONDO:0000532 lung combined type small cell adenocarcinoma skos:exactMatch NCIT:C9379 Combined Lung Small Cell Carcinoma and Lung Adenocarcinoma semapv:UnspecifiedMatching MONDO:0000532 lung combined type small cell adenocarcinoma skos:exactMatch UMLS:C1332165 semapv:UnspecifiedMatching MONDO:0000534 trachea mucoepidermoid carcinoma skos:exactMatch DOID:0050919 trachea mucoepidermoid carcinoma semapv:UnspecifiedMatching MONDO:0000534 trachea mucoepidermoid carcinoma skos:exactMatch MEDGEN:835970 semapv:UnspecifiedMatching MONDO:0000534 trachea mucoepidermoid carcinoma skos:exactMatch SCTID:707379000 semapv:UnspecifiedMatching MONDO:0000534 trachea mucoepidermoid carcinoma skos:exactMatch UMLS:C3873401 semapv:UnspecifiedMatching MONDO:0000536 pharyngeal squamous cell carcinoma skos:exactMatch DOID:0050921 pharynx squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0000536 pharyngeal squamous cell carcinoma skos:exactMatch EFO:1001965 semapv:UnspecifiedMatching MONDO:0000536 pharyngeal squamous cell carcinoma skos:exactMatch MEDGEN:728086 semapv:UnspecifiedMatching MONDO:0000536 pharyngeal squamous cell carcinoma skos:exactMatch NCIT:C102872 Pharyngeal Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0000536 pharyngeal squamous cell carcinoma skos:exactMatch SCTID:408649007 semapv:UnspecifiedMatching MONDO:0000536 pharyngeal squamous cell carcinoma skos:exactMatch UMLS:C1319317 semapv:UnspecifiedMatching MONDO:0000539 striated muscle rhabdoid tumor skos:exactMatch DOID:0050924 striated muscle rhabdoid tumor semapv:UnspecifiedMatching MONDO:0000540 small intestinal neuroendocrine tumor G1 skos:exactMatch DOID:0050925 small intestine carcinoid neuroendocrine tumor semapv:UnspecifiedMatching MONDO:0000540 small intestinal neuroendocrine tumor G1 skos:exactMatch MEDGEN:91150 semapv:UnspecifiedMatching MONDO:0000540 small intestinal neuroendocrine tumor G1 skos:exactMatch NCIT:C4638 Small Intestinal Neuroendocrine Tumor G1 semapv:UnspecifiedMatching MONDO:0000540 small intestinal neuroendocrine tumor G1 skos:exactMatch SCTID:276818002 semapv:UnspecifiedMatching MONDO:0000540 small intestinal neuroendocrine tumor G1 skos:exactMatch UMLS:C0349536 semapv:UnspecifiedMatching MONDO:0000541 jejunal adenocarcinoma skos:exactMatch DOID:0050926 jejunal adenocarcinoma semapv:UnspecifiedMatching MONDO:0000541 jejunal adenocarcinoma skos:exactMatch MEDGEN:893029 semapv:UnspecifiedMatching MONDO:0000541 jejunal adenocarcinoma skos:exactMatch NCIT:C181158 Jejunal Adenocarcinoma semapv:UnspecifiedMatching MONDO:0000541 jejunal adenocarcinoma skos:exactMatch UMLS:C4072935 semapv:UnspecifiedMatching MONDO:0000543 ovarian melanoma skos:exactMatch DOID:0050928 ovarian melanoma semapv:UnspecifiedMatching MONDO:0000543 ovarian melanoma skos:exactMatch MEDGEN:1790038 semapv:UnspecifiedMatching MONDO:0000543 ovarian melanoma skos:exactMatch NCIT:C178441 Ovarian Melanoma semapv:UnspecifiedMatching MONDO:0000543 ovarian melanoma skos:exactMatch UMLS:C4761026 semapv:UnspecifiedMatching MONDO:0000544 mucosal melanoma skos:exactMatch DOID:0050929 mucosal melanoma semapv:UnspecifiedMatching MONDO:0000544 mucosal melanoma skos:exactMatch MEDGEN:857816 semapv:UnspecifiedMatching MONDO:0000544 mucosal melanoma skos:exactMatch NCIT:C114828 Mucosal Melanoma semapv:UnspecifiedMatching MONDO:0000544 mucosal melanoma skos:exactMatch UMLS:C3898222 semapv:UnspecifiedMatching MONDO:0000545 sublingual gland adenoid cystic carcinoma skos:exactMatch DOID:0050930 sublingual gland adenoid cystic carcinoma semapv:UnspecifiedMatching MONDO:0000548 ovarian clear cell cancer skos:exactMatch DOID:0050934 ovarian clear cell carcinoma semapv:UnspecifiedMatching MONDO:0000548 ovarian clear cell cancer skos:exactMatch MEDGEN:276544 semapv:UnspecifiedMatching MONDO:0000548 ovarian clear cell cancer skos:exactMatch NCIT:C40077 Malignant Ovarian Clear Cell Tumor semapv:UnspecifiedMatching MONDO:0000548 ovarian clear cell cancer skos:exactMatch UMLS:C1518230 semapv:UnspecifiedMatching MONDO:0000549 cervical neuroblastoma skos:exactMatch DOID:0050935 cervical neuroblastoma semapv:UnspecifiedMatching MONDO:0000549 cervical neuroblastoma skos:exactMatch MEDGEN:1876533 semapv:UnspecifiedMatching MONDO:0000549 cervical neuroblastoma skos:exactMatch UMLS:C5985049 semapv:UnspecifiedMatching MONDO:0000550 extra-adrenal sympathetic paraganglioma skos:exactMatch DOID:0050936 extra-adrenal pheochromocytoma semapv:UnspecifiedMatching MONDO:0000550 extra-adrenal sympathetic paraganglioma skos:exactMatch EFO:0000489 semapv:UnspecifiedMatching MONDO:0000550 extra-adrenal sympathetic paraganglioma skos:exactMatch MEDGEN:263453 semapv:UnspecifiedMatching MONDO:0000550 extra-adrenal sympathetic paraganglioma skos:exactMatch NCIT:C48576 Extra-Adrenal Sympathetic Paraganglioma semapv:UnspecifiedMatching MONDO:0000550 extra-adrenal sympathetic paraganglioma skos:exactMatch UMLS:C1257877 semapv:UnspecifiedMatching MONDO:0000551 retroperitoneal neuroblastoma skos:exactMatch DOID:0050937 retroperitoneal neuroblastoma semapv:UnspecifiedMatching MONDO:0000551 retroperitoneal neuroblastoma skos:exactMatch MEDGEN:1843500 semapv:UnspecifiedMatching MONDO:0000551 retroperitoneal neuroblastoma skos:exactMatch UMLS:C2211613 semapv:UnspecifiedMatching MONDO:0000552 breast lobular carcinoma skos:exactMatch DOID:0050938 breast lobular carcinoma semapv:UnspecifiedMatching MONDO:0000552 breast lobular carcinoma skos:exactMatch EFO:0008509 semapv:UnspecifiedMatching MONDO:0000552 breast lobular carcinoma skos:exactMatch MEDGEN:64634 semapv:UnspecifiedMatching MONDO:0000552 breast lobular carcinoma skos:exactMatch NCIT:C3771 Breast Lobular Carcinoma semapv:UnspecifiedMatching MONDO:0000552 breast lobular carcinoma skos:exactMatch SCTID:278054005 semapv:UnspecifiedMatching MONDO:0000552 breast lobular carcinoma skos:exactMatch UMLS:C0206692 semapv:UnspecifiedMatching MONDO:0000553 uterine corpus endometrial carcinoma skos:exactMatch DOID:0050939 uterine corpus endometrial carcinoma semapv:UnspecifiedMatching MONDO:0000554 endocervical adenocarcinoma skos:exactMatch DOID:0050940 endocervical adenocarcinoma semapv:UnspecifiedMatching MONDO:0000554 endocervical adenocarcinoma skos:exactMatch MEDGEN:688039 semapv:UnspecifiedMatching MONDO:0000554 endocervical adenocarcinoma skos:exactMatch NCIT:C127907 Endocervical Adenocarcinoma, Usual-Type semapv:UnspecifiedMatching MONDO:0000554 endocervical adenocarcinoma skos:exactMatch SCTID:123842006 semapv:UnspecifiedMatching MONDO:0000554 endocervical adenocarcinoma skos:exactMatch UMLS:C1263762 semapv:UnspecifiedMatching MONDO:0000563 GRID2-related autosomal dominant spinocerebellar ataxia skos:exactMatch DOID:0050988 GRID2-related spinocerebellar ataxia semapv:UnspecifiedMatching MONDO:0000565 infective endocarditis skos:exactMatch DOID:0060000 infective endocarditis semapv:UnspecifiedMatching MONDO:0000565 infective endocarditis skos:exactMatch MEDGEN:323818 semapv:UnspecifiedMatching MONDO:0000565 infective endocarditis skos:exactMatch NCIT:C78265 Infective Endocarditis semapv:UnspecifiedMatching MONDO:0000565 infective endocarditis skos:exactMatch Orphanet:570762 Infective endocarditis semapv:UnspecifiedMatching MONDO:0000565 infective endocarditis skos:exactMatch SCTID:233850007 semapv:UnspecifiedMatching MONDO:0000565 infective endocarditis skos:exactMatch UMLS:C1541923 semapv:UnspecifiedMatching MONDO:0000565 infective endocarditis skos:exactMatch icd11.foundation:512128824 Acute or subacute infectious endocarditis semapv:UnspecifiedMatching MONDO:0000568 autoimmune disorder of central nervous system skos:exactMatch DOID:0060004 autoimmune disease of central nervous system semapv:UnspecifiedMatching MONDO:0000568 autoimmune disorder of central nervous system skos:exactMatch EFO:0020092 semapv:UnspecifiedMatching MONDO:0000569 autoimmune disorder of endocrine system skos:exactMatch DOID:0060005 autoimmune disease of endocrine system semapv:UnspecifiedMatching MONDO:0000569 autoimmune disorder of endocrine system skos:exactMatch MEDGEN:575099 semapv:UnspecifiedMatching MONDO:0000569 autoimmune disorder of endocrine system skos:exactMatch SCTID:237822008 semapv:UnspecifiedMatching MONDO:0000569 autoimmune disorder of endocrine system skos:exactMatch UMLS:C0342552 semapv:UnspecifiedMatching MONDO:0000572 recombinase activating gene 1 deficiency skos:exactMatch DOID:0060011 recombinase activating gene 1 deficiency semapv:UnspecifiedMatching MONDO:0000573 recombinase activating gene 2 deficiency skos:exactMatch DOID:0060012 recombinase activating gene 2 deficiency semapv:UnspecifiedMatching MONDO:0000577 congenital anemia skos:exactMatch MEDGEN:102361 semapv:UnspecifiedMatching MONDO:0000577 congenital anemia skos:exactMatch NCIT:C35228 Congenital Anemia semapv:UnspecifiedMatching MONDO:0000577 congenital anemia skos:exactMatch SCTID:63565007 semapv:UnspecifiedMatching MONDO:0000577 congenital anemia skos:exactMatch UMLS:C0158995 semapv:UnspecifiedMatching MONDO:0000583 immunoglobulin beta deficiency skos:exactMatch DOID:0060026 immunoglobulin beta deficiency semapv:UnspecifiedMatching MONDO:0000583 immunoglobulin beta deficiency skos:exactMatch MEDGEN:502457 semapv:UnspecifiedMatching MONDO:0000583 immunoglobulin beta deficiency skos:exactMatch UMLS:C3502055 semapv:UnspecifiedMatching MONDO:0000583 immunoglobulin beta deficiency skos:exactMatch mesh:C567200 semapv:UnspecifiedMatching MONDO:0000586 autoimmune disorder of exocrine system skos:exactMatch DOID:0060029 autoimmune disease of exocrine system semapv:UnspecifiedMatching MONDO:0000587 autoimmune disease of ear, nose and throat skos:exactMatch DOID:0060030 autoimmune disease of eyes, ear, nose and throat semapv:UnspecifiedMatching MONDO:0000588 autoimmune disorder of gastrointestinal tract skos:exactMatch DOID:0060031 autoimmune disease of gastrointestinal tract semapv:UnspecifiedMatching MONDO:0000589 autoimmune disorder of musculoskeletal system skos:exactMatch DOID:0060032 autoimmune disease of musculoskeletal system semapv:UnspecifiedMatching MONDO:0000590 autoimmune disorder of peripheral nervous system skos:exactMatch DOID:0060033 autoimmune disease of peripheral nervous system semapv:UnspecifiedMatching MONDO:0000591 intrinsic cardiomyopathy skos:exactMatch DOID:0060036 intrinsic cardiomyopathy semapv:UnspecifiedMatching MONDO:0000592 specific developmental disorder skos:exactMatch DOID:0060038 specific developmental disorder semapv:UnspecifiedMatching MONDO:0000592 specific developmental disorder skos:exactMatch MEDGEN:508157 semapv:UnspecifiedMatching MONDO:0000592 specific developmental disorder skos:exactMatch SCTID:10720004 semapv:UnspecifiedMatching MONDO:0000592 specific developmental disorder skos:exactMatch UMLS:C0037785 semapv:UnspecifiedMatching MONDO:0000594 pervasive developmental disorder skos:exactMatch DOID:0060040 pervasive developmental disorder semapv:UnspecifiedMatching MONDO:0000594 pervasive developmental disorder skos:exactMatch MEDGEN:99336 semapv:UnspecifiedMatching MONDO:0000594 pervasive developmental disorder skos:exactMatch NCIT:C97179 Pervasive Developmental Disorder semapv:UnspecifiedMatching MONDO:0000594 pervasive developmental disorder skos:exactMatch SCTID:35919005 semapv:UnspecifiedMatching MONDO:0000594 pervasive developmental disorder skos:exactMatch UMLS:C0524528 semapv:UnspecifiedMatching MONDO:0000594 pervasive developmental disorder skos:exactMatch mesh:D002659 semapv:UnspecifiedMatching MONDO:0000595 sexual disorder skos:exactMatch DOID:0060043 sexual health disorder semapv:UnspecifiedMatching MONDO:0000595 sexual disorder skos:exactMatch MEDGEN:1876492 semapv:UnspecifiedMatching MONDO:0000595 sexual disorder skos:exactMatch NCIT:C92202 Sexual and Gender Identity Disorders semapv:UnspecifiedMatching MONDO:0000595 sexual disorder skos:exactMatch SCTID:231532002 semapv:UnspecifiedMatching MONDO:0000595 sexual disorder skos:exactMatch UMLS:C5979968 semapv:UnspecifiedMatching MONDO:0000596 paraphilic disorder skos:exactMatch DOID:0060044 paraphilia disorder semapv:UnspecifiedMatching MONDO:0000596 paraphilic disorder skos:exactMatch MEDGEN:18299 semapv:UnspecifiedMatching MONDO:0000596 paraphilic disorder skos:exactMatch SCTID:50299009 semapv:UnspecifiedMatching MONDO:0000596 paraphilic disorder skos:exactMatch UMLS:C0030482 semapv:UnspecifiedMatching MONDO:0000596 paraphilic disorder skos:exactMatch mesh:D010262 semapv:UnspecifiedMatching MONDO:0000597 Munchausen by proxy skos:exactMatch DOID:0060045 Munchausen by proxy semapv:UnspecifiedMatching MONDO:0000597 Munchausen by proxy skos:exactMatch MEDGEN:88372 semapv:UnspecifiedMatching MONDO:0000597 Munchausen by proxy skos:exactMatch SCTID:95637005 semapv:UnspecifiedMatching MONDO:0000597 Munchausen by proxy skos:exactMatch UMLS:C0085277 semapv:UnspecifiedMatching MONDO:0000597 Munchausen by proxy skos:exactMatch mesh:D016735 semapv:UnspecifiedMatching MONDO:0000598 aphasia skos:exactMatch DOID:0060046 aphasia semapv:UnspecifiedMatching MONDO:0000598 aphasia skos:exactMatch ICD10CM:R47.01 Aphasia semapv:UnspecifiedMatching MONDO:0000598 aphasia skos:exactMatch MEDGEN:8159 semapv:UnspecifiedMatching MONDO:0000598 aphasia skos:exactMatch UMLS:C0003537 semapv:UnspecifiedMatching MONDO:0000598 aphasia skos:exactMatch icd11.foundation:1167055901 Aphasia semapv:UnspecifiedMatching MONDO:0000598 aphasia skos:exactMatch mesh:D001037 semapv:UnspecifiedMatching MONDO:0000599 writing disorder skos:exactMatch DOID:0060047 writing disorder semapv:UnspecifiedMatching MONDO:0000599 writing disorder skos:exactMatch MEDGEN:1843493 semapv:UnspecifiedMatching MONDO:0000599 writing disorder skos:exactMatch UMLS:C0860614 semapv:UnspecifiedMatching MONDO:0000600 nosophobia skos:exactMatch DOID:0060048 nosophobia semapv:UnspecifiedMatching MONDO:0000600 nosophobia skos:exactMatch MEDGEN:637105 semapv:UnspecifiedMatching MONDO:0000600 nosophobia skos:exactMatch UMLS:C0522182 semapv:UnspecifiedMatching MONDO:0000601 obsolete autoimmune disorder of urogenital tract skos:exactMatch DOID:0060049 autoimmune disease of urogenital tract semapv:UnspecifiedMatching MONDO:0000602 autoimmune disorder of blood skos:exactMatch DOID:0060050 autoimmune disease of blood semapv:UnspecifiedMatching MONDO:0000603 autoimmune disorder of cardiovascular system skos:exactMatch DOID:0060051 autoimmune disease of cardiovascular system semapv:UnspecifiedMatching MONDO:0000605 hypersensitivity reaction disease skos:exactMatch DOID:0060056 hypersensitivity reaction disease semapv:UnspecifiedMatching MONDO:0000605 hypersensitivity reaction disease skos:exactMatch EFO:1002003 semapv:UnspecifiedMatching MONDO:0000605 hypersensitivity reaction disease skos:exactMatch MEDGEN:759636 semapv:UnspecifiedMatching MONDO:0000605 hypersensitivity reaction disease skos:exactMatch NCIT:C3114 Hypersensitivity semapv:UnspecifiedMatching MONDO:0000605 hypersensitivity reaction disease skos:exactMatch SCTID:473010000 semapv:UnspecifiedMatching MONDO:0000605 hypersensitivity reaction disease skos:exactMatch UMLS:C3532523 semapv:UnspecifiedMatching MONDO:0000606 obsolete gluten allergy skos:exactMatch DOID:0060057 gluten allergy semapv:UnspecifiedMatching MONDO:0000607 primary cutaneous T-cell non-Hodgkin lymphoma skos:exactMatch DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma semapv:UnspecifiedMatching MONDO:0000607 primary cutaneous T-cell non-Hodgkin lymphoma skos:exactMatch EFO:0002913 semapv:UnspecifiedMatching MONDO:0000607 primary cutaneous T-cell non-Hodgkin lymphoma skos:exactMatch NCIT:C3467 Primary Cutaneous T-Cell Non-Hodgkin Lymphoma semapv:UnspecifiedMatching MONDO:0000607 primary cutaneous T-cell non-Hodgkin lymphoma skos:exactMatch mesh:D016410 semapv:UnspecifiedMatching MONDO:0000608 familial juvenile hyperuricemic nephropathy skos:exactMatch DOID:0060062 autosomal dominant tubulointerstitial kidney disease semapv:UnspecifiedMatching MONDO:0000608 familial juvenile hyperuricemic nephropathy skos:exactMatch OMIMPS:162000 Tubulointerstitial kidney disease semapv:UnspecifiedMatching MONDO:0000608 familial juvenile hyperuricemic nephropathy skos:exactMatch SCTID:46785007 semapv:UnspecifiedMatching MONDO:0000608 familial juvenile hyperuricemic nephropathy skos:exactMatch icd11.foundation:1143722735 Familial juvenile hyperuricaemic nephropathy semapv:UnspecifiedMatching MONDO:0000608 familial juvenile hyperuricemic nephropathy skos:exactMatch mesh:C537696 semapv:UnspecifiedMatching MONDO:0000610 marantic endocarditis skos:exactMatch DOID:0060068 nonbacterial thrombotic endocarditis semapv:UnspecifiedMatching MONDO:0000610 marantic endocarditis skos:exactMatch MEDGEN:452215 semapv:UnspecifiedMatching MONDO:0000610 marantic endocarditis skos:exactMatch SCTID:57181007 semapv:UnspecifiedMatching MONDO:0000610 marantic endocarditis skos:exactMatch UMLS:C0221390 semapv:UnspecifiedMatching MONDO:0000610 marantic endocarditis skos:exactMatch mesh:D059905 semapv:UnspecifiedMatching MONDO:0000611 pre-malignant neoplasm skos:exactMatch DOID:0060071 pre-malignant neoplasm semapv:UnspecifiedMatching MONDO:0000611 pre-malignant neoplasm skos:exactMatch MEDGEN:1837212 semapv:UnspecifiedMatching MONDO:0000611 pre-malignant neoplasm skos:exactMatch UMLS:C5817154 semapv:UnspecifiedMatching MONDO:0000612 lymphatic system cancer skos:exactMatch DOID:0060073 lymphatic system cancer semapv:UnspecifiedMatching MONDO:0000615 progesterone-receptor positive breast cancer skos:exactMatch DOID:0060077 progesterone-receptor positive breast cancer semapv:UnspecifiedMatching MONDO:0000615 progesterone-receptor positive breast cancer skos:exactMatch MEDGEN:1843473 semapv:UnspecifiedMatching MONDO:0000615 progesterone-receptor positive breast cancer skos:exactMatch UMLS:C4733094 semapv:UnspecifiedMatching MONDO:0000616 progesterone-receptor negative breast cancer skos:exactMatch DOID:0060078 progesterone-receptor negative breast cancer semapv:UnspecifiedMatching MONDO:0000618 Her2-receptor negative breast cancer skos:exactMatch DOID:0060080 Her2-receptor negative breast cancer semapv:UnspecifiedMatching MONDO:0000618 Her2-receptor negative breast cancer skos:exactMatch EFO:0009780 semapv:UnspecifiedMatching MONDO:0000618 Her2-receptor negative breast cancer skos:exactMatch MEDGEN:1684659 semapv:UnspecifiedMatching MONDO:0000618 Her2-receptor negative breast cancer skos:exactMatch NCIT:C168519 HER2-Negative Breast Carcinoma semapv:UnspecifiedMatching MONDO:0000618 Her2-receptor negative breast cancer skos:exactMatch SCTID:431396003 semapv:UnspecifiedMatching MONDO:0000618 Her2-receptor negative breast cancer skos:exactMatch UMLS:C4733095 semapv:UnspecifiedMatching MONDO:0000620 breast benign neoplasm skos:exactMatch DOID:0060082 breast benign neoplasm semapv:UnspecifiedMatching MONDO:0000620 breast benign neoplasm skos:exactMatch ICD10CM:D24 Benign neoplasm of breast semapv:UnspecifiedMatching MONDO:0000620 breast benign neoplasm skos:exactMatch MEDGEN:91085 semapv:UnspecifiedMatching MONDO:0000620 breast benign neoplasm skos:exactMatch NCIT:C4505 Benign Breast Neoplasm semapv:UnspecifiedMatching MONDO:0000620 breast benign neoplasm skos:exactMatch SCTID:269485000 semapv:UnspecifiedMatching MONDO:0000620 breast benign neoplasm skos:exactMatch UMLS:C0346156 semapv:UnspecifiedMatching MONDO:0000620 breast benign neoplasm skos:exactMatch icd11.foundation:2120366482 Benign neoplasm of breast semapv:UnspecifiedMatching MONDO:0000621 immune system cancer skos:exactMatch DOID:0060083 immune system cancer semapv:UnspecifiedMatching MONDO:0000624 benign female reproductive system neoplasm skos:exactMatch DOID:0060086 female reproductive organ benign neoplasm semapv:UnspecifiedMatching MONDO:0000624 benign female reproductive system neoplasm skos:exactMatch MEDGEN:152872 semapv:UnspecifiedMatching MONDO:0000624 benign female reproductive system neoplasm skos:exactMatch NCIT:C4934 Benign Female Reproductive System Neoplasm semapv:UnspecifiedMatching MONDO:0000624 benign female reproductive system neoplasm skos:exactMatch UMLS:C0744514 semapv:UnspecifiedMatching MONDO:0000625 benign male reproductive system neoplasm skos:exactMatch DOID:0060087 male reproductive organ benign neoplasm semapv:UnspecifiedMatching MONDO:0000625 benign male reproductive system neoplasm skos:exactMatch MEDGEN:181751 semapv:UnspecifiedMatching MONDO:0000625 benign male reproductive system neoplasm skos:exactMatch NCIT:C4777 Benign Male Reproductive System Neoplasm semapv:UnspecifiedMatching MONDO:0000625 benign male reproductive system neoplasm skos:exactMatch UMLS:C0947786 semapv:UnspecifiedMatching MONDO:0000626 vestibular gland benign neoplasm skos:exactMatch DOID:0060088 vestibular gland benign neoplasm semapv:UnspecifiedMatching MONDO:0000627 benign endocrine neoplasm skos:exactMatch DOID:0060089 endocrine organ benign neoplasm semapv:UnspecifiedMatching MONDO:0000627 benign endocrine neoplasm skos:exactMatch MEDGEN:87577 semapv:UnspecifiedMatching MONDO:0000627 benign endocrine neoplasm skos:exactMatch NCIT:C4621 Benign Endocrine Neoplasm semapv:UnspecifiedMatching MONDO:0000627 benign endocrine neoplasm skos:exactMatch SCTID:92085000 semapv:UnspecifiedMatching MONDO:0000627 benign endocrine neoplasm skos:exactMatch UMLS:C0347524 semapv:UnspecifiedMatching MONDO:0000628 central nervous system organ benign neoplasm skos:exactMatch DOID:0060090 central nervous system benign neoplasm semapv:UnspecifiedMatching MONDO:0000628 central nervous system organ benign neoplasm skos:exactMatch MEDGEN:488882 semapv:UnspecifiedMatching MONDO:0000628 central nervous system organ benign neoplasm skos:exactMatch NCIT:C188049 Benign Central Nervous System Neoplasm semapv:UnspecifiedMatching MONDO:0000628 central nervous system organ benign neoplasm skos:exactMatch UMLS:C0347509 semapv:UnspecifiedMatching MONDO:0000629 cardiovascular organ benign neoplasm skos:exactMatch DOID:0060091 cardiovascular organ benign neoplasm semapv:UnspecifiedMatching MONDO:0000629 cardiovascular organ benign neoplasm skos:exactMatch MEDGEN:1843462 semapv:UnspecifiedMatching MONDO:0000629 cardiovascular organ benign neoplasm skos:exactMatch UMLS:C0848083 semapv:UnspecifiedMatching MONDO:0000630 immune system organ benign neoplasm skos:exactMatch DOID:0060092 immune system organ benign neoplasm semapv:UnspecifiedMatching MONDO:0000631 bone benign neoplasm skos:exactMatch DOID:0060094 bone benign neoplasm semapv:UnspecifiedMatching MONDO:0000631 bone benign neoplasm skos:exactMatch MEDGEN:146337 semapv:UnspecifiedMatching MONDO:0000631 bone benign neoplasm skos:exactMatch NCIT:C4880 Benign Bone Neoplasm semapv:UnspecifiedMatching MONDO:0000631 bone benign neoplasm skos:exactMatch SCTID:92027006 semapv:UnspecifiedMatching MONDO:0000631 bone benign neoplasm skos:exactMatch UMLS:C0684516 semapv:UnspecifiedMatching MONDO:0000632 uterine benign neoplasm skos:exactMatch DOID:0060095 uterine benign neoplasm semapv:UnspecifiedMatching MONDO:0000632 uterine benign neoplasm skos:exactMatch MEDGEN:57809 semapv:UnspecifiedMatching MONDO:0000632 uterine benign neoplasm skos:exactMatch NCIT:C3609 Benign Uterine Neoplasm semapv:UnspecifiedMatching MONDO:0000632 uterine benign neoplasm skos:exactMatch SCTID:92470003 semapv:UnspecifiedMatching MONDO:0000632 uterine benign neoplasm skos:exactMatch UMLS:C0153999 semapv:UnspecifiedMatching MONDO:0000633 sensory organ benign neoplasm skos:exactMatch DOID:0060096 sensory organ benign neoplasm semapv:UnspecifiedMatching MONDO:0000634 thoracic benign neoplasm skos:exactMatch DOID:0060097 thoracic benign neoplasm semapv:UnspecifiedMatching MONDO:0000634 thoracic benign neoplasm skos:exactMatch MEDGEN:138065 semapv:UnspecifiedMatching MONDO:0000634 thoracic benign neoplasm skos:exactMatch NCIT:C4565 Benign Thoracic Neoplasm semapv:UnspecifiedMatching MONDO:0000634 thoracic benign neoplasm skos:exactMatch SCTID:255059002 semapv:UnspecifiedMatching MONDO:0000634 thoracic benign neoplasm skos:exactMatch UMLS:C0346440 semapv:UnspecifiedMatching MONDO:0000636 musculoskeletal system benign neoplasm skos:exactMatch DOID:0060099 musculoskeletal system benign neoplasm semapv:UnspecifiedMatching MONDO:0000636 musculoskeletal system benign neoplasm skos:exactMatch MEDGEN:1709701 semapv:UnspecifiedMatching MONDO:0000636 musculoskeletal system benign neoplasm skos:exactMatch NCIT:C166356 Benign Musculoskeletal Neoplasm semapv:UnspecifiedMatching MONDO:0000636 musculoskeletal system benign neoplasm skos:exactMatch UMLS:C5237920 semapv:UnspecifiedMatching MONDO:0000637 musculoskeletal system cancer skos:exactMatch DOID:0060100 musculoskeletal system cancer semapv:UnspecifiedMatching MONDO:0000637 musculoskeletal system cancer skos:exactMatch MEDGEN:1714562 semapv:UnspecifiedMatching MONDO:0000637 musculoskeletal system cancer skos:exactMatch NCIT:C166357 Malignant Musculoskeletal Neoplasm semapv:UnspecifiedMatching MONDO:0000637 musculoskeletal system cancer skos:exactMatch UMLS:C0036210 semapv:UnspecifiedMatching MONDO:0000639 cartilage cancer skos:exactMatch DOID:0060102 cartilage cancer semapv:UnspecifiedMatching MONDO:0000639 cartilage cancer skos:exactMatch MEDGEN:1843449 semapv:UnspecifiedMatching MONDO:0000639 cartilage cancer skos:exactMatch UMLS:C4290064 semapv:UnspecifiedMatching MONDO:0000640 central nervous system primitive neuroectodermal neoplasm skos:exactMatch DOID:0060103 central nervous system embryonal tumor semapv:UnspecifiedMatching MONDO:0000640 central nervous system primitive neuroectodermal neoplasm skos:exactMatch MEDGEN:854517 semapv:UnspecifiedMatching MONDO:0000640 central nervous system primitive neuroectodermal neoplasm skos:exactMatch NCIT:C5398 Central Nervous System Embryonal Tumor, Not Otherwise Specified semapv:UnspecifiedMatching MONDO:0000640 central nervous system primitive neuroectodermal neoplasm skos:exactMatch UMLS:C3887678 semapv:UnspecifiedMatching MONDO:0000640 central nervous system primitive neuroectodermal neoplasm skos:exactMatch icd11.foundation:1711526170 Central primitive neuroectodermal tumour semapv:UnspecifiedMatching MONDO:0000643 vulvar benign neoplasm skos:exactMatch DOID:0060109 vulvar benign neoplasm semapv:UnspecifiedMatching MONDO:0000643 vulvar benign neoplasm skos:exactMatch ICD10CM:D28.0 Benign neoplasm of vulva semapv:UnspecifiedMatching MONDO:0000643 vulvar benign neoplasm skos:exactMatch MEDGEN:102301 semapv:UnspecifiedMatching MONDO:0000643 vulvar benign neoplasm skos:exactMatch NCIT:C3611 Benign Vulvar Neoplasm semapv:UnspecifiedMatching MONDO:0000643 vulvar benign neoplasm skos:exactMatch SCTID:92486005 semapv:UnspecifiedMatching MONDO:0000643 vulvar benign neoplasm skos:exactMatch UMLS:C0154003 semapv:UnspecifiedMatching MONDO:0000643 vulvar benign neoplasm skos:exactMatch icd11.foundation:1032480924 Benign neoplasm of vulva semapv:UnspecifiedMatching MONDO:0000644 cervical benign neoplasm skos:exactMatch DOID:0060110 cervical benign neoplasm semapv:UnspecifiedMatching MONDO:0000644 cervical benign neoplasm skos:exactMatch MEDGEN:102300 semapv:UnspecifiedMatching MONDO:0000644 cervical benign neoplasm skos:exactMatch NCIT:C3607 Benign Cervical Neoplasm semapv:UnspecifiedMatching MONDO:0000644 cervical benign neoplasm skos:exactMatch SCTID:92056006 semapv:UnspecifiedMatching MONDO:0000644 cervical benign neoplasm skos:exactMatch UMLS:C0153997 semapv:UnspecifiedMatching MONDO:0000645 fallopian tube benign neoplasm skos:exactMatch DOID:0060111 fallopian tube benign neoplasm semapv:UnspecifiedMatching MONDO:0000645 fallopian tube benign neoplasm skos:exactMatch MEDGEN:83416 semapv:UnspecifiedMatching MONDO:0000645 fallopian tube benign neoplasm skos:exactMatch NCIT:C4517 Benign Fallopian Tube Neoplasm semapv:UnspecifiedMatching MONDO:0000645 fallopian tube benign neoplasm skos:exactMatch Orphanet:180237 Benign tumor of fallopian tubes semapv:UnspecifiedMatching MONDO:0000645 fallopian tube benign neoplasm skos:exactMatch SCTID:92100009 semapv:UnspecifiedMatching MONDO:0000645 fallopian tube benign neoplasm skos:exactMatch UMLS:C0346190 semapv:UnspecifiedMatching MONDO:0000645 fallopian tube benign neoplasm skos:exactMatch icd11.foundation:883442453 Benign neoplasm of fallopian tube semapv:UnspecifiedMatching MONDO:0000646 ovarian benign neoplasm skos:exactMatch DOID:0060112 ovarian benign neoplasm semapv:UnspecifiedMatching MONDO:0000646 ovarian benign neoplasm skos:exactMatch EFO:1000116 semapv:UnspecifiedMatching MONDO:0000646 ovarian benign neoplasm skos:exactMatch MEDGEN:14058 semapv:UnspecifiedMatching MONDO:0000646 ovarian benign neoplasm skos:exactMatch NCIT:C2895 Benign Ovarian Neoplasm semapv:UnspecifiedMatching MONDO:0000646 ovarian benign neoplasm skos:exactMatch SCTID:92260003 semapv:UnspecifiedMatching MONDO:0000646 ovarian benign neoplasm skos:exactMatch UMLS:C0004997 semapv:UnspecifiedMatching MONDO:0000646 ovarian benign neoplasm skos:exactMatch icd11.foundation:181365103 Benign neoplasm of ovary semapv:UnspecifiedMatching MONDO:0000647 benign vaginal neoplasm skos:exactMatch DOID:0060114 vaginal benign neoplasm semapv:UnspecifiedMatching MONDO:0000647 benign vaginal neoplasm skos:exactMatch ICD10CM:D28.1 Benign neoplasm of vagina semapv:UnspecifiedMatching MONDO:0000647 benign vaginal neoplasm skos:exactMatch MEDGEN:57810 semapv:UnspecifiedMatching MONDO:0000647 benign vaginal neoplasm skos:exactMatch NCIT:C3610 Benign Vaginal Neoplasm semapv:UnspecifiedMatching MONDO:0000647 benign vaginal neoplasm skos:exactMatch SCTID:92473001 semapv:UnspecifiedMatching MONDO:0000647 benign vaginal neoplasm skos:exactMatch UMLS:C0154002 semapv:UnspecifiedMatching MONDO:0000647 benign vaginal neoplasm skos:exactMatch icd11.foundation:1489085710 Benign neoplasm of vagina semapv:UnspecifiedMatching MONDO:0000648 nervous system benign neoplasm skos:exactMatch DOID:0060115 nervous system benign neoplasm semapv:UnspecifiedMatching MONDO:0000648 nervous system benign neoplasm skos:exactMatch MEDGEN:99232 semapv:UnspecifiedMatching MONDO:0000648 nervous system benign neoplasm skos:exactMatch NCIT:C4789 Benign Nervous System Neoplasm semapv:UnspecifiedMatching MONDO:0000648 nervous system benign neoplasm skos:exactMatch SCTID:92247009 semapv:UnspecifiedMatching MONDO:0000648 nervous system benign neoplasm skos:exactMatch UMLS:C0497550 semapv:UnspecifiedMatching MONDO:0000649 sensory system cancer skos:exactMatch DOID:0060116 sensory system cancer semapv:UnspecifiedMatching MONDO:0000650 peritoneal benign neoplasm skos:exactMatch DOID:0060117 peritoneal benign neoplasm semapv:UnspecifiedMatching MONDO:0000650 peritoneal benign neoplasm skos:exactMatch MEDGEN:141678 semapv:UnspecifiedMatching MONDO:0000650 peritoneal benign neoplasm skos:exactMatch NCIT:C8612 Benign Peritoneal Neoplasm semapv:UnspecifiedMatching MONDO:0000650 peritoneal benign neoplasm skos:exactMatch UMLS:C0496874 semapv:UnspecifiedMatching MONDO:0000650 peritoneal benign neoplasm skos:exactMatch icd11.foundation:758908914 Benign neoplasm of peritoneum semapv:UnspecifiedMatching MONDO:0000651 obsolete thoracic disorder skos:exactMatch DOID:0060118 thoracic disease semapv:UnspecifiedMatching MONDO:0000651 obsolete thoracic disorder skos:exactMatch NCIT:C35742 Thoracic Disorder semapv:UnspecifiedMatching MONDO:0000651 obsolete thoracic disorder skos:exactMatch SCTID:118946009 semapv:UnspecifiedMatching MONDO:0000651 obsolete thoracic disorder skos:exactMatch mesh:D013896 semapv:UnspecifiedMatching MONDO:0000652 integumentary system benign neoplasm skos:exactMatch DOID:0060121 integumentary system benign neoplasm semapv:UnspecifiedMatching MONDO:0000653 integumentary system cancer skos:exactMatch DOID:0060122 integumentary system cancer semapv:UnspecifiedMatching MONDO:0000654 benign connective and soft tissue neoplasm skos:exactMatch DOID:0060123 connective tissue benign neoplasm semapv:UnspecifiedMatching MONDO:0000654 benign connective and soft tissue neoplasm skos:exactMatch MEDGEN:83866 semapv:UnspecifiedMatching MONDO:0000654 benign connective and soft tissue neoplasm skos:exactMatch NCIT:C53684 Benign Connective and Soft Tissue Neoplasm semapv:UnspecifiedMatching MONDO:0000654 benign connective and soft tissue neoplasm skos:exactMatch UMLS:C0347481 semapv:UnspecifiedMatching MONDO:0000659 delta-heavy chain disease skos:exactMatch DOID:0060129 delta chain disease semapv:UnspecifiedMatching MONDO:0000659 delta-heavy chain disease skos:exactMatch MEDGEN:543921 semapv:UnspecifiedMatching MONDO:0000659 delta-heavy chain disease skos:exactMatch SCTID:20224008 semapv:UnspecifiedMatching MONDO:0000659 delta-heavy chain disease skos:exactMatch UMLS:C0272253 semapv:UnspecifiedMatching MONDO:0000660 akinetopsia skos:exactMatch DOID:0060130 akinetopsia semapv:UnspecifiedMatching MONDO:0000661 alexithymia skos:exactMatch DOID:0060131 alexithymia semapv:UnspecifiedMatching MONDO:0000661 alexithymia skos:exactMatch MEDGEN:194 semapv:UnspecifiedMatching MONDO:0000661 alexithymia skos:exactMatch UMLS:C0002020 semapv:UnspecifiedMatching MONDO:0000662 amusia skos:exactMatch DOID:0060132 amusia semapv:UnspecifiedMatching MONDO:0000662 amusia skos:exactMatch MEDGEN:536039 semapv:UnspecifiedMatching MONDO:0000662 amusia skos:exactMatch UMLS:C0234497 semapv:UnspecifiedMatching MONDO:0000662 amusia skos:exactMatch icd11.foundation:777548616 Amusia semapv:UnspecifiedMatching MONDO:0000663 anosognosia skos:exactMatch DOID:0060133 anosognosia semapv:UnspecifiedMatching MONDO:0000663 anosognosia skos:exactMatch MEDGEN:536043 semapv:UnspecifiedMatching MONDO:0000663 anosognosia skos:exactMatch UMLS:C0234507 semapv:UnspecifiedMatching MONDO:0000663 anosognosia skos:exactMatch icd11.foundation:833222383 Anosognosia semapv:UnspecifiedMatching MONDO:0000664 apperceptive agnosia skos:exactMatch DOID:0060134 apperceptive agnosia semapv:UnspecifiedMatching MONDO:0000665 apraxia skos:exactMatch DOID:0060135 apraxia semapv:UnspecifiedMatching MONDO:0000665 apraxia skos:exactMatch ICD10CM:R48.2 Apraxia semapv:UnspecifiedMatching MONDO:0000665 apraxia skos:exactMatch MEDGEN:8166 semapv:UnspecifiedMatching MONDO:0000665 apraxia skos:exactMatch NCIT:C180557 Apraxia semapv:UnspecifiedMatching MONDO:0000665 apraxia skos:exactMatch UMLS:C0003635 semapv:UnspecifiedMatching MONDO:0000665 apraxia skos:exactMatch icd11.foundation:986651951 Apraxia semapv:UnspecifiedMatching MONDO:0000665 apraxia skos:exactMatch mesh:D001072 semapv:UnspecifiedMatching MONDO:0000666 associative visual agnosia skos:exactMatch DOID:0060136 associative agnosia semapv:UnspecifiedMatching MONDO:0000667 auditory agnosia skos:exactMatch DOID:0060137 auditory agnosia semapv:UnspecifiedMatching MONDO:0000667 auditory agnosia skos:exactMatch MEDGEN:68602 semapv:UnspecifiedMatching MONDO:0000667 auditory agnosia skos:exactMatch UMLS:C0234501 semapv:UnspecifiedMatching MONDO:0000668 autotopagnosia skos:exactMatch DOID:0060138 autotopagnosia semapv:UnspecifiedMatching MONDO:0000668 autotopagnosia skos:exactMatch MEDGEN:65883 semapv:UnspecifiedMatching MONDO:0000668 autotopagnosia skos:exactMatch UMLS:C0234511 semapv:UnspecifiedMatching MONDO:0000669 color agnosia skos:exactMatch DOID:0060139 color agnosia semapv:UnspecifiedMatching MONDO:0000670 cortical deafness skos:exactMatch DOID:0060140 cortical deafness semapv:UnspecifiedMatching MONDO:0000670 cortical deafness skos:exactMatch MEDGEN:98233 semapv:UnspecifiedMatching MONDO:0000670 cortical deafness skos:exactMatch UMLS:C0392704 semapv:UnspecifiedMatching MONDO:0000671 finger agnosia skos:exactMatch DOID:0060141 finger agnosia semapv:UnspecifiedMatching MONDO:0000671 finger agnosia skos:exactMatch MEDGEN:115960 semapv:UnspecifiedMatching MONDO:0000671 finger agnosia skos:exactMatch UMLS:C0234509 semapv:UnspecifiedMatching MONDO:0000672 form agnosia skos:exactMatch DOID:0060142 form agnosia semapv:UnspecifiedMatching MONDO:0000672 form agnosia skos:exactMatch MEDGEN:107878 semapv:UnspecifiedMatching MONDO:0000672 form agnosia skos:exactMatch UMLS:C0563621 semapv:UnspecifiedMatching MONDO:0000673 integrative agnosia skos:exactMatch DOID:0060143 integrative agnosia semapv:UnspecifiedMatching MONDO:0000674 mirror agnosia skos:exactMatch DOID:0060144 mirror agnosia semapv:UnspecifiedMatching MONDO:0000675 pain agnosia skos:exactMatch DOID:0060145 pain agnosia semapv:UnspecifiedMatching MONDO:0000675 pain agnosia skos:exactMatch EFO:1001484 semapv:UnspecifiedMatching MONDO:0000675 pain agnosia skos:exactMatch MEDGEN:154351 semapv:UnspecifiedMatching MONDO:0000675 pain agnosia skos:exactMatch NCIT:C125664 Pain Agnosia semapv:UnspecifiedMatching MONDO:0000675 pain agnosia skos:exactMatch UMLS:C0563625 semapv:UnspecifiedMatching MONDO:0000676 phonagnosia skos:exactMatch DOID:0060146 phonagnosia semapv:UnspecifiedMatching MONDO:0000677 semantic agnosia skos:exactMatch DOID:0060147 semantic agnosia semapv:UnspecifiedMatching MONDO:0000678 simultanagnosia skos:exactMatch DOID:0060148 simultanagnosia semapv:UnspecifiedMatching MONDO:0000678 simultanagnosia skos:exactMatch MEDGEN:415993 semapv:UnspecifiedMatching MONDO:0000678 simultanagnosia skos:exactMatch UMLS:C2827429 semapv:UnspecifiedMatching MONDO:0000678 simultanagnosia skos:exactMatch icd11.foundation:1669328667 Simultanagnosia semapv:UnspecifiedMatching MONDO:0000679 social emotional agnosia skos:exactMatch DOID:0060149 social emotional agnosia semapv:UnspecifiedMatching MONDO:0000680 astereognosia skos:exactMatch DOID:0060150 astereognosia semapv:UnspecifiedMatching MONDO:0000680 astereognosia skos:exactMatch MEDGEN:65881 semapv:UnspecifiedMatching MONDO:0000680 astereognosia skos:exactMatch UMLS:C0234505 semapv:UnspecifiedMatching MONDO:0000680 astereognosia skos:exactMatch icd11.foundation:756147896 Astereognosia semapv:UnspecifiedMatching MONDO:0000681 tactile agnosia skos:exactMatch DOID:0060151 tactile agnosia semapv:UnspecifiedMatching MONDO:0000682 time agnosia skos:exactMatch DOID:0060152 time agnosia semapv:UnspecifiedMatching MONDO:0000682 time agnosia skos:exactMatch MEDGEN:65882 semapv:UnspecifiedMatching MONDO:0000682 time agnosia skos:exactMatch UMLS:C0234506 semapv:UnspecifiedMatching MONDO:0000683 topographical agnosia skos:exactMatch DOID:0060153 topographical agnosia semapv:UnspecifiedMatching MONDO:0000683 topographical agnosia skos:exactMatch MEDGEN:78761 semapv:UnspecifiedMatching MONDO:0000683 topographical agnosia skos:exactMatch SCTID:83824009 semapv:UnspecifiedMatching MONDO:0000683 topographical agnosia skos:exactMatch UMLS:C0271189 semapv:UnspecifiedMatching MONDO:0000684 verbal auditory agnosia skos:exactMatch DOID:0060154 verbal auditory agnosia semapv:UnspecifiedMatching MONDO:0000685 visual agnosia skos:exactMatch DOID:0060155 visual agnosia semapv:UnspecifiedMatching MONDO:0000685 visual agnosia skos:exactMatch MEDGEN:115959 semapv:UnspecifiedMatching MONDO:0000685 visual agnosia skos:exactMatch NCIT:C35276 Visual Agnosia semapv:UnspecifiedMatching MONDO:0000685 visual agnosia skos:exactMatch SCTID:25762009 semapv:UnspecifiedMatching MONDO:0000685 visual agnosia skos:exactMatch UMLS:C0234502 semapv:UnspecifiedMatching MONDO:0000686 alexia without agraphia skos:exactMatch DOID:0060156 visual verbal agnosia semapv:UnspecifiedMatching MONDO:0000686 alexia without agraphia skos:exactMatch MEDGEN:155643 semapv:UnspecifiedMatching MONDO:0000686 alexia without agraphia skos:exactMatch UMLS:C0751840 semapv:UnspecifiedMatching MONDO:0000686 alexia without agraphia skos:exactMatch mesh:D020237 semapv:UnspecifiedMatching MONDO:0000687 diffuse alopecia areata skos:exactMatch DOID:0060157 diffuse alopecia areata semapv:UnspecifiedMatching MONDO:0000687 diffuse alopecia areata skos:exactMatch MEDGEN:537915 semapv:UnspecifiedMatching MONDO:0000687 diffuse alopecia areata skos:exactMatch SCTID:46586006 semapv:UnspecifiedMatching MONDO:0000687 diffuse alopecia areata skos:exactMatch UMLS:C0263479 semapv:UnspecifiedMatching MONDO:0000687 diffuse alopecia areata skos:exactMatch icd11.foundation:666274267 Diffuse alopecia areata semapv:UnspecifiedMatching MONDO:0000687 diffuse alopecia areata skos:exactMatch mesh:C531609 semapv:UnspecifiedMatching MONDO:0000688 inborn organic aciduria skos:exactMatch DOID:0060159 organic acidemia semapv:UnspecifiedMatching MONDO:0000688 inborn organic aciduria skos:exactMatch MEDGEN:66037 semapv:UnspecifiedMatching MONDO:0000688 inborn organic aciduria skos:exactMatch NCIT:C101334 Organic Acid Metabolism Disorder semapv:UnspecifiedMatching MONDO:0000688 inborn organic aciduria skos:exactMatch Orphanet:289899 Organic aciduria semapv:UnspecifiedMatching MONDO:0000688 inborn organic aciduria skos:exactMatch UMLS:C0241775 semapv:UnspecifiedMatching MONDO:0000688 inborn organic aciduria skos:exactMatch icd11.foundation:1921636230 Organic aciduria semapv:UnspecifiedMatching MONDO:0000690 body dysmorphic disorder skos:exactMatch DOID:0060163 body dysmorphic disorder semapv:UnspecifiedMatching MONDO:0000690 body dysmorphic disorder skos:exactMatch ICD10CM:F45.22 Body dysmorphic disorder semapv:UnspecifiedMatching MONDO:0000690 body dysmorphic disorder skos:exactMatch MEDGEN:2302 semapv:UnspecifiedMatching MONDO:0000690 body dysmorphic disorder skos:exactMatch SCTID:83482000 semapv:UnspecifiedMatching MONDO:0000690 body dysmorphic disorder skos:exactMatch UMLS:C0005887 semapv:UnspecifiedMatching MONDO:0000690 body dysmorphic disorder skos:exactMatch icd11.foundation:731724655 Body dysmorphic disorder semapv:UnspecifiedMatching MONDO:0000690 body dysmorphic disorder skos:exactMatch mesh:D057215 semapv:UnspecifiedMatching MONDO:0000693 bipolar II disorder skos:exactMatch DOID:0060166 bipolar ll disorder semapv:UnspecifiedMatching MONDO:0000693 bipolar II disorder skos:exactMatch ICD10CM:F31.81 Bipolar II disorder semapv:UnspecifiedMatching MONDO:0000693 bipolar II disorder skos:exactMatch MEDGEN:536634 semapv:UnspecifiedMatching MONDO:0000693 bipolar II disorder skos:exactMatch SCTID:83225003 semapv:UnspecifiedMatching MONDO:0000693 bipolar II disorder skos:exactMatch UMLS:C0236788 semapv:UnspecifiedMatching MONDO:0000694 seasonal affective disorder skos:exactMatch DOID:0060167 seasonal affective disorder semapv:UnspecifiedMatching MONDO:0000694 seasonal affective disorder skos:exactMatch MEDGEN:38984 semapv:UnspecifiedMatching MONDO:0000694 seasonal affective disorder skos:exactMatch SCTID:247803002 semapv:UnspecifiedMatching MONDO:0000694 seasonal affective disorder skos:exactMatch UMLS:C0085159 semapv:UnspecifiedMatching MONDO:0000694 seasonal affective disorder skos:exactMatch mesh:D016574 semapv:UnspecifiedMatching MONDO:0000698 gamma-amino butyric acid metabolism disorder skos:exactMatch DOID:0060176 gamma-amino butyric acid metabolism disorder semapv:UnspecifiedMatching MONDO:0000698 gamma-amino butyric acid metabolism disorder skos:exactMatch MEDGEN:1842586 semapv:UnspecifiedMatching MONDO:0000698 gamma-amino butyric acid metabolism disorder skos:exactMatch Orphanet:79175 Disorder of gamma-aminobutyric acid metabolism semapv:UnspecifiedMatching MONDO:0000698 gamma-amino butyric acid metabolism disorder skos:exactMatch UMLS:C4702813 semapv:UnspecifiedMatching MONDO:0000698 gamma-amino butyric acid metabolism disorder skos:exactMatch icd11.foundation:1811657969 Disorders of gamma aminobutyric acid metabolism semapv:UnspecifiedMatching MONDO:0000700 familial hemiplegic migraine skos:exactMatch DOID:0060178 familial hemiplegic migraine semapv:UnspecifiedMatching MONDO:0000700 familial hemiplegic migraine skos:exactMatch MEDGEN:87374 semapv:UnspecifiedMatching MONDO:0000700 familial hemiplegic migraine skos:exactMatch NCIT:C117009 Familial Hemiplegic Migraine semapv:UnspecifiedMatching MONDO:0000700 familial hemiplegic migraine skos:exactMatch OMIMPS:141500 Migraine, familial hemiplegic semapv:UnspecifiedMatching MONDO:0000700 familial hemiplegic migraine skos:exactMatch SCTID:95656000 semapv:UnspecifiedMatching MONDO:0000700 familial hemiplegic migraine skos:exactMatch UMLS:C0338484 semapv:UnspecifiedMatching MONDO:0000700 familial hemiplegic migraine skos:exactMatch icd11.foundation:1827007904 Familial hemiplegic migraine semapv:UnspecifiedMatching MONDO:0000701 ischemic colitis skos:exactMatch DOID:0060181 ischemic colitis semapv:UnspecifiedMatching MONDO:0000701 ischemic colitis skos:exactMatch MEDGEN:57930 semapv:UnspecifiedMatching MONDO:0000701 ischemic colitis skos:exactMatch SCTID:30588004 semapv:UnspecifiedMatching MONDO:0000701 ischemic colitis skos:exactMatch UMLS:C0162529 semapv:UnspecifiedMatching MONDO:0000701 ischemic colitis skos:exactMatch mesh:D017091 semapv:UnspecifiedMatching MONDO:0000702 microscopic colitis skos:exactMatch DOID:0060182 microscopic colitis semapv:UnspecifiedMatching MONDO:0000702 microscopic colitis skos:exactMatch EFO:1001295 semapv:UnspecifiedMatching MONDO:0000702 microscopic colitis skos:exactMatch ICD10CM:K52.83 Microscopic colitis semapv:UnspecifiedMatching MONDO:0000702 microscopic colitis skos:exactMatch MEDGEN:98005 semapv:UnspecifiedMatching MONDO:0000702 microscopic colitis skos:exactMatch NCIT:C38504 Microscopic Colitis semapv:UnspecifiedMatching MONDO:0000702 microscopic colitis skos:exactMatch SCTID:235753003 semapv:UnspecifiedMatching MONDO:0000702 microscopic colitis skos:exactMatch UMLS:C0400821 semapv:UnspecifiedMatching MONDO:0000702 microscopic colitis skos:exactMatch icd11.foundation:1122828822 Microscopic colitis semapv:UnspecifiedMatching MONDO:0000702 microscopic colitis skos:exactMatch mesh:D046728 semapv:UnspecifiedMatching MONDO:0000703 collagenous colitis skos:exactMatch DOID:0060183 collagenous colitis semapv:UnspecifiedMatching MONDO:0000703 collagenous colitis skos:exactMatch EFO:1001293 semapv:UnspecifiedMatching MONDO:0000703 collagenous colitis skos:exactMatch ICD10CM:K52.831 Collagenous colitis semapv:UnspecifiedMatching MONDO:0000703 collagenous colitis skos:exactMatch MEDGEN:65945 semapv:UnspecifiedMatching MONDO:0000703 collagenous colitis skos:exactMatch NCIT:C27021 Collagenous Colitis semapv:UnspecifiedMatching MONDO:0000703 collagenous colitis skos:exactMatch SCTID:19311003 semapv:UnspecifiedMatching MONDO:0000703 collagenous colitis skos:exactMatch UMLS:C0238067 semapv:UnspecifiedMatching MONDO:0000703 collagenous colitis skos:exactMatch icd11.foundation:1322041450 Collagenous colitis semapv:UnspecifiedMatching MONDO:0000703 collagenous colitis skos:exactMatch mesh:D046729 semapv:UnspecifiedMatching MONDO:0000704 lymphocytic colitis skos:exactMatch DOID:0060184 lymphocytic colitis semapv:UnspecifiedMatching MONDO:0000704 lymphocytic colitis skos:exactMatch EFO:1001294 semapv:UnspecifiedMatching MONDO:0000704 lymphocytic colitis skos:exactMatch ICD10CM:K52.832 Lymphocytic colitis semapv:UnspecifiedMatching MONDO:0000704 lymphocytic colitis skos:exactMatch MEDGEN:98006 semapv:UnspecifiedMatching MONDO:0000704 lymphocytic colitis skos:exactMatch NCIT:C27147 Lymphocytic Colitis semapv:UnspecifiedMatching MONDO:0000704 lymphocytic colitis skos:exactMatch SCTID:31437008 semapv:UnspecifiedMatching MONDO:0000704 lymphocytic colitis skos:exactMatch UMLS:C0400822 semapv:UnspecifiedMatching MONDO:0000704 lymphocytic colitis skos:exactMatch icd11.foundation:1629251056 Lymphocytic colitis semapv:UnspecifiedMatching MONDO:0000704 lymphocytic colitis skos:exactMatch mesh:D046730 semapv:UnspecifiedMatching MONDO:0000705 Clostridium difficile colitis skos:exactMatch DOID:0060185 Clostridium difficile colitis semapv:UnspecifiedMatching MONDO:0000705 Clostridium difficile colitis skos:exactMatch MEDGEN:65946 semapv:UnspecifiedMatching MONDO:0000705 Clostridium difficile colitis skos:exactMatch NCIT:C35286 Clostridium difficile Colitis semapv:UnspecifiedMatching MONDO:0000705 Clostridium difficile colitis skos:exactMatch SCTID:423590009 semapv:UnspecifiedMatching MONDO:0000705 Clostridium difficile colitis skos:exactMatch UMLS:C0238106 semapv:UnspecifiedMatching MONDO:0000705 Clostridium difficile colitis skos:exactMatch mesh:D004761 semapv:UnspecifiedMatching MONDO:0000706 chemical colitis skos:exactMatch DOID:0060186 chemical colitis semapv:UnspecifiedMatching MONDO:0000706 chemical colitis skos:exactMatch SCTID:72965009 semapv:UnspecifiedMatching MONDO:0000707 diversion colitis skos:exactMatch DOID:0060187 diversion colitis semapv:UnspecifiedMatching MONDO:0000707 diversion colitis skos:exactMatch MEDGEN:540758 semapv:UnspecifiedMatching MONDO:0000707 diversion colitis skos:exactMatch SCTID:51290000 semapv:UnspecifiedMatching MONDO:0000707 diversion colitis skos:exactMatch UMLS:C0267532 semapv:UnspecifiedMatching MONDO:0000707 diversion colitis skos:exactMatch icd11.foundation:553304993 Diversion colitis semapv:UnspecifiedMatching MONDO:0000708 Crohn jejunoileitis skos:exactMatch DOID:0060188 jejunoileitis semapv:UnspecifiedMatching MONDO:0000708 Crohn jejunoileitis skos:exactMatch MEDGEN:1807919 semapv:UnspecifiedMatching MONDO:0000708 Crohn jejunoileitis skos:exactMatch UMLS:C5686428 semapv:UnspecifiedMatching MONDO:0000709 Crohn ileitis skos:exactMatch DOID:0060189 ileitis semapv:UnspecifiedMatching MONDO:0000709 Crohn ileitis skos:exactMatch MEDGEN:82754 semapv:UnspecifiedMatching MONDO:0000709 Crohn ileitis skos:exactMatch NCIT:C35329 Crohn Ileitis semapv:UnspecifiedMatching MONDO:0000709 Crohn ileitis skos:exactMatch SCTID:52457000 semapv:UnspecifiedMatching MONDO:0000709 Crohn ileitis skos:exactMatch UMLS:C0267380 semapv:UnspecifiedMatching MONDO:0000709 Crohn ileitis skos:exactMatch icd11.foundation:1699481566 Crohn disease of ileum semapv:UnspecifiedMatching MONDO:0000709 Crohn ileitis skos:exactMatch mesh:D007079 semapv:UnspecifiedMatching MONDO:0000710 gastroduodenal Crohn disease skos:exactMatch DOID:0060191 gastroduodenal Crohn's disease semapv:UnspecifiedMatching MONDO:0000710 gastroduodenal Crohn disease skos:exactMatch MEDGEN:1613956 semapv:UnspecifiedMatching MONDO:0000710 gastroduodenal Crohn disease skos:exactMatch UMLS:C4544979 semapv:UnspecifiedMatching MONDO:0000715 lymph node adenoid cystic carcinoma skos:exactMatch DOID:0060219 lymph node adenoid cystic carcinoma semapv:UnspecifiedMatching MONDO:0000716 agraphia skos:exactMatch DOID:0060223 agraphia semapv:UnspecifiedMatching MONDO:0000716 agraphia skos:exactMatch MEDGEN:1790 semapv:UnspecifiedMatching MONDO:0000716 agraphia skos:exactMatch UMLS:C0001825 semapv:UnspecifiedMatching MONDO:0000716 agraphia skos:exactMatch icd11.foundation:1372096058 Agraphia semapv:UnspecifiedMatching MONDO:0000716 agraphia skos:exactMatch mesh:D000381 semapv:UnspecifiedMatching MONDO:0000721 xanthinuria skos:exactMatch MEDGEN:450997 semapv:UnspecifiedMatching MONDO:0000721 xanthinuria skos:exactMatch SCTID:190919008 semapv:UnspecifiedMatching MONDO:0000721 xanthinuria skos:exactMatch UMLS:C0220988 semapv:UnspecifiedMatching MONDO:0000721 xanthinuria skos:exactMatch icd11.foundation:1565213608 Xanthinuria semapv:UnspecifiedMatching MONDO:0000722 non-syndromic synpolydactyly skos:exactMatch DOID:0060242 synpolydactyly semapv:UnspecifiedMatching MONDO:0000723 stutter disorder skos:exactMatch DOID:0060243 stuttering semapv:UnspecifiedMatching MONDO:0000723 stutter disorder skos:exactMatch MEDGEN:20932 semapv:UnspecifiedMatching MONDO:0000723 stutter disorder skos:exactMatch NCIT:C35043 Stutter semapv:UnspecifiedMatching MONDO:0000723 stutter disorder skos:exactMatch OMIMPS:184450 Stuttering, familial persistent semapv:UnspecifiedMatching MONDO:0000723 stutter disorder skos:exactMatch UMLS:C0038131 semapv:UnspecifiedMatching MONDO:0000724 specific language impairment skos:exactMatch DOID:0060244 specific language impairment semapv:UnspecifiedMatching MONDO:0000724 specific language impairment skos:exactMatch EFO:1001510 semapv:UnspecifiedMatching MONDO:0000724 specific language impairment skos:exactMatch MEDGEN:627772 semapv:UnspecifiedMatching MONDO:0000724 specific language impairment skos:exactMatch OMIMPS:606711 Specific language impairment semapv:UnspecifiedMatching MONDO:0000724 specific language impairment skos:exactMatch UMLS:C0454651 semapv:UnspecifiedMatching MONDO:0000724 specific language impairment skos:exactMatch icd11.foundation:862918022 Developmental language disorder semapv:UnspecifiedMatching MONDO:0000726 idiopathic scoliosis skos:exactMatch DOID:0060250 idiopathic scoliosis semapv:UnspecifiedMatching MONDO:0000726 idiopathic scoliosis skos:exactMatch MEDGEN:671079 semapv:UnspecifiedMatching MONDO:0000726 idiopathic scoliosis skos:exactMatch SCTID:203639008 semapv:UnspecifiedMatching MONDO:0000726 idiopathic scoliosis skos:exactMatch UMLS:C0595995 semapv:UnspecifiedMatching MONDO:0000726 idiopathic scoliosis skos:exactMatch icd11.foundation:712180005 Scoliosis with no determinant semapv:UnspecifiedMatching MONDO:0000727 scapuloperoneal myopathy skos:exactMatch DOID:0060253 scapuloperoneal myopathy semapv:UnspecifiedMatching MONDO:0000727 scapuloperoneal myopathy skos:exactMatch MEDGEN:419759 semapv:UnspecifiedMatching MONDO:0000727 scapuloperoneal myopathy skos:exactMatch UMLS:C2931268 semapv:UnspecifiedMatching MONDO:0000727 scapuloperoneal myopathy skos:exactMatch mesh:C536624 semapv:UnspecifiedMatching MONDO:0000728 ptosis skos:exactMatch DOID:0060260 ptosis semapv:UnspecifiedMatching MONDO:0000728 ptosis skos:exactMatch MEDGEN:2287 semapv:UnspecifiedMatching MONDO:0000728 ptosis skos:exactMatch NCIT:C27298 Ptosis semapv:UnspecifiedMatching MONDO:0000728 ptosis skos:exactMatch SCTID:11934000 semapv:UnspecifiedMatching MONDO:0000728 ptosis skos:exactMatch UMLS:C0005745 semapv:UnspecifiedMatching MONDO:0000728 ptosis skos:exactMatch icd11.foundation:1361674069 Blepharoptosis semapv:UnspecifiedMatching MONDO:0000728 ptosis skos:exactMatch mesh:D001763 semapv:UnspecifiedMatching MONDO:0000732 combined oxidative phosphorylation deficiency skos:exactMatch DOID:0060286 combined oxidative phosphorylation deficiency semapv:UnspecifiedMatching MONDO:0000732 combined oxidative phosphorylation deficiency skos:exactMatch MEDGEN:1626645 semapv:UnspecifiedMatching MONDO:0000732 combined oxidative phosphorylation deficiency skos:exactMatch OMIMPS:609060 Combined oxidative phosphorylation deficiency semapv:UnspecifiedMatching MONDO:0000732 combined oxidative phosphorylation deficiency skos:exactMatch UMLS:C4540031 semapv:UnspecifiedMatching MONDO:0000732 combined oxidative phosphorylation deficiency skos:exactMatch icd11.foundation:1953023896 Combined oxidative phosphorylation deficiency semapv:UnspecifiedMatching MONDO:0000733 cornea plana skos:exactMatch DOID:0060287 cornea plana semapv:UnspecifiedMatching MONDO:0000733 cornea plana skos:exactMatch ICD10CM:Q13.4 Other congenital corneal malformations semapv:UnspecifiedMatching MONDO:0000733 cornea plana skos:exactMatch MEDGEN:576329 semapv:UnspecifiedMatching MONDO:0000733 cornea plana skos:exactMatch OMIMPS:121400 Cornea plana semapv:UnspecifiedMatching MONDO:0000733 cornea plana skos:exactMatch Orphanet:53691 Congenital cornea plana semapv:UnspecifiedMatching MONDO:0000733 cornea plana skos:exactMatch SCTID:204145006 semapv:UnspecifiedMatching MONDO:0000733 cornea plana skos:exactMatch UMLS:C0344529 semapv:UnspecifiedMatching MONDO:0000733 cornea plana skos:exactMatch icd11.foundation:262157734 Cornea plana semapv:UnspecifiedMatching MONDO:0000734 Ohdo syndrome and variants skos:exactMatch DOID:0060289 Ohdo syndrome semapv:UnspecifiedMatching MONDO:0000736 dyschromatosis universalis hereditaria skos:exactMatch DOID:0060304 dyschromatosis universalis hereditaria semapv:UnspecifiedMatching MONDO:0000736 dyschromatosis universalis hereditaria skos:exactMatch MEDGEN:419691 semapv:UnspecifiedMatching MONDO:0000736 dyschromatosis universalis hereditaria skos:exactMatch NCIT:C173131 Dyschromatosis Universalis Hereditaria semapv:UnspecifiedMatching MONDO:0000736 dyschromatosis universalis hereditaria skos:exactMatch OMIMPS:127500 Dyschromatosis universalis hereditaria semapv:UnspecifiedMatching MONDO:0000736 dyschromatosis universalis hereditaria skos:exactMatch Orphanet:241 Dyschromatosis universalis hereditaria semapv:UnspecifiedMatching MONDO:0000736 dyschromatosis universalis hereditaria skos:exactMatch SCTID:239082002 semapv:UnspecifiedMatching MONDO:0000736 dyschromatosis universalis hereditaria skos:exactMatch UMLS:C2930995 semapv:UnspecifiedMatching MONDO:0000736 dyschromatosis universalis hereditaria skos:exactMatch icd11.foundation:480710406 Hereditary universal dyschromatosis semapv:UnspecifiedMatching MONDO:0000736 dyschromatosis universalis hereditaria skos:exactMatch mesh:C535730 semapv:UnspecifiedMatching MONDO:0000739 uvulitis skos:exactMatch DOID:0060310 uvulitis semapv:UnspecifiedMatching MONDO:0000739 uvulitis skos:exactMatch MEDGEN:508266 semapv:UnspecifiedMatching MONDO:0000739 uvulitis skos:exactMatch NCIT:C128385 Uvulitis semapv:UnspecifiedMatching MONDO:0000739 uvulitis skos:exactMatch SCTID:300932000 semapv:UnspecifiedMatching MONDO:0000739 uvulitis skos:exactMatch UMLS:C0042174 semapv:UnspecifiedMatching MONDO:0000739 uvulitis skos:exactMatch icd11.foundation:776797866 Uvulitis semapv:UnspecifiedMatching MONDO:0000740 adenoid hypertrophy skos:exactMatch DOID:0060311 adenoid hypertrophy semapv:UnspecifiedMatching MONDO:0000740 adenoid hypertrophy skos:exactMatch MEDGEN:628857 semapv:UnspecifiedMatching MONDO:0000740 adenoid hypertrophy skos:exactMatch SCTID:111591002 semapv:UnspecifiedMatching MONDO:0000740 adenoid hypertrophy skos:exactMatch UMLS:C0455938 semapv:UnspecifiedMatching MONDO:0000740 adenoid hypertrophy skos:exactMatch icd11.foundation:2068842254 Hypertrophy of adenoids semapv:UnspecifiedMatching MONDO:0000741 angular cheilitis skos:exactMatch DOID:0060312 angular cheilitis semapv:UnspecifiedMatching MONDO:0000741 angular cheilitis skos:exactMatch MEDGEN:526202 semapv:UnspecifiedMatching MONDO:0000741 angular cheilitis skos:exactMatch NCIT:C112198 Angular Cheilitis semapv:UnspecifiedMatching MONDO:0000741 angular cheilitis skos:exactMatch SCTID:16459000 semapv:UnspecifiedMatching MONDO:0000741 angular cheilitis skos:exactMatch UMLS:C0221237 semapv:UnspecifiedMatching MONDO:0000741 angular cheilitis skos:exactMatch icd11.foundation:591060439 Angular cheilitis semapv:UnspecifiedMatching MONDO:0000742 obsolete persistent generalized lymphadenopathy skos:exactMatch DOID:0060314 persistent generalized lymphadenopathy semapv:UnspecifiedMatching MONDO:0000742 obsolete persistent generalized lymphadenopathy skos:exactMatch SCTID:95892003 semapv:UnspecifiedMatching MONDO:0000743 oral hairy leukoplakia skos:exactMatch DOID:0060315 oral hairy leukoplakia semapv:UnspecifiedMatching MONDO:0000743 oral hairy leukoplakia skos:exactMatch ICD10CM:K13.3 Hairy leukoplakia semapv:UnspecifiedMatching MONDO:0000743 oral hairy leukoplakia skos:exactMatch MEDGEN:104797 semapv:UnspecifiedMatching MONDO:0000743 oral hairy leukoplakia skos:exactMatch NCIT:C3722 Oral Cavity Hairy Leukoplakia semapv:UnspecifiedMatching MONDO:0000743 oral hairy leukoplakia skos:exactMatch SCTID:414952002 semapv:UnspecifiedMatching MONDO:0000743 oral hairy leukoplakia skos:exactMatch UMLS:C0206186 semapv:UnspecifiedMatching MONDO:0000743 oral hairy leukoplakia skos:exactMatch icd11.foundation:2106872801 Hairy leukoplakia semapv:UnspecifiedMatching MONDO:0000743 oral hairy leukoplakia skos:exactMatch mesh:D017733 semapv:UnspecifiedMatching MONDO:0000744 lung abscess skos:exactMatch DOID:0060317 lung abscess semapv:UnspecifiedMatching MONDO:0000744 lung abscess skos:exactMatch EFO:1001362 semapv:UnspecifiedMatching MONDO:0000744 lung abscess skos:exactMatch MEDGEN:7397 semapv:UnspecifiedMatching MONDO:0000744 lung abscess skos:exactMatch NCIT:C99090 Lung Abscess semapv:UnspecifiedMatching MONDO:0000744 lung abscess skos:exactMatch SCTID:73452002 semapv:UnspecifiedMatching MONDO:0000744 lung abscess skos:exactMatch UMLS:C0024110 semapv:UnspecifiedMatching MONDO:0000744 lung abscess skos:exactMatch mesh:D008169 semapv:UnspecifiedMatching MONDO:0000745 cardiac arrest skos:exactMatch DOID:0060319 cardiac arrest semapv:UnspecifiedMatching MONDO:0000745 cardiac arrest skos:exactMatch ICD10CM:I46 Cardiac arrest semapv:UnspecifiedMatching MONDO:0000745 cardiac arrest skos:exactMatch ICD10WHO:I46 Cardiac arrest semapv:UnspecifiedMatching MONDO:0000745 cardiac arrest skos:exactMatch MEDGEN:5456 semapv:UnspecifiedMatching MONDO:0000745 cardiac arrest skos:exactMatch SCTID:410429000 semapv:UnspecifiedMatching MONDO:0000745 cardiac arrest skos:exactMatch UMLS:C0018790 semapv:UnspecifiedMatching MONDO:0000745 cardiac arrest skos:exactMatch icd11.foundation:395422191 Cardiac arrest semapv:UnspecifiedMatching MONDO:0000745 cardiac arrest skos:exactMatch mesh:D006323 semapv:UnspecifiedMatching MONDO:0000746 obsolete inguinal hernia skos:exactMatch DOID:0060320 inguinal hernia semapv:UnspecifiedMatching MONDO:0000746 obsolete inguinal hernia skos:exactMatch NCIT:C34690 Inguinal Hernia semapv:UnspecifiedMatching MONDO:0000746 obsolete inguinal hernia skos:exactMatch SCTID:396232000 semapv:UnspecifiedMatching MONDO:0000746 obsolete inguinal hernia skos:exactMatch mesh:D006552 semapv:UnspecifiedMatching MONDO:0000747 obsolete umbilical hernia skos:exactMatch DOID:0060321 umbilical hernia semapv:UnspecifiedMatching MONDO:0000747 obsolete umbilical hernia skos:exactMatch NCIT:C118375 Umbilical Hernia semapv:UnspecifiedMatching MONDO:0000747 obsolete umbilical hernia skos:exactMatch SCTID:396347007 semapv:UnspecifiedMatching MONDO:0000747 obsolete umbilical hernia skos:exactMatch mesh:D006554 semapv:UnspecifiedMatching MONDO:0000748 mastoiditis skos:exactMatch DOID:0060322 mastoiditis semapv:UnspecifiedMatching MONDO:0000748 mastoiditis skos:exactMatch MEDGEN:7480 semapv:UnspecifiedMatching MONDO:0000748 mastoiditis skos:exactMatch NCIT:C128368 Mastoiditis semapv:UnspecifiedMatching MONDO:0000748 mastoiditis skos:exactMatch SCTID:52404001 semapv:UnspecifiedMatching MONDO:0000748 mastoiditis skos:exactMatch UMLS:C0024904 semapv:UnspecifiedMatching MONDO:0000748 mastoiditis skos:exactMatch mesh:D008417 semapv:UnspecifiedMatching MONDO:0000749 breast abscess skos:exactMatch DOID:0060323 breast abscess semapv:UnspecifiedMatching MONDO:0000749 breast abscess skos:exactMatch MEDGEN:508760 semapv:UnspecifiedMatching MONDO:0000749 breast abscess skos:exactMatch SCTID:28432003 semapv:UnspecifiedMatching MONDO:0000749 breast abscess skos:exactMatch UMLS:C0151463 semapv:UnspecifiedMatching MONDO:0000749 breast abscess skos:exactMatch icd11.foundation:1033306788 Breast abscess semapv:UnspecifiedMatching MONDO:0000750 dental abscess skos:exactMatch DOID:0060324 dental abscess semapv:UnspecifiedMatching MONDO:0000750 dental abscess skos:exactMatch MEDGEN:99235 semapv:UnspecifiedMatching MONDO:0000750 dental abscess skos:exactMatch SCTID:299709002 semapv:UnspecifiedMatching MONDO:0000750 dental abscess skos:exactMatch UMLS:C0518988 semapv:UnspecifiedMatching MONDO:0000751 cervical polyp skos:exactMatch DOID:0060325 cervical polyp semapv:UnspecifiedMatching MONDO:0000751 cervical polyp skos:exactMatch ICD10CM:N84.1 Polyp of cervix uteri semapv:UnspecifiedMatching MONDO:0000751 cervical polyp skos:exactMatch MEDGEN:507540 semapv:UnspecifiedMatching MONDO:0000751 cervical polyp skos:exactMatch NCIT:C2939 Cervical Polyp semapv:UnspecifiedMatching MONDO:0000751 cervical polyp skos:exactMatch SCTID:65576009 semapv:UnspecifiedMatching MONDO:0000751 cervical polyp skos:exactMatch UMLS:C0007855 semapv:UnspecifiedMatching MONDO:0000751 cervical polyp skos:exactMatch icd11.foundation:396198272 Polyp of cervix uteri semapv:UnspecifiedMatching MONDO:0000754 anal fistula skos:exactMatch DOID:0060328 anal fistula semapv:UnspecifiedMatching MONDO:0000754 anal fistula skos:exactMatch ICD10CM:K60.3 Anal fistula semapv:UnspecifiedMatching MONDO:0000754 anal fistula skos:exactMatch MEDGEN:61482 semapv:UnspecifiedMatching MONDO:0000754 anal fistula skos:exactMatch NCIT:C60785 Anorectal Fistula semapv:UnspecifiedMatching MONDO:0000754 anal fistula skos:exactMatch Orphanet:228113 Anal fistula semapv:UnspecifiedMatching MONDO:0000754 anal fistula skos:exactMatch SCTID:72779005 semapv:UnspecifiedMatching MONDO:0000754 anal fistula skos:exactMatch UMLS:C0205929 semapv:UnspecifiedMatching MONDO:0000754 anal fistula skos:exactMatch icd11.foundation:206903882 Anal fistula semapv:UnspecifiedMatching MONDO:0000754 anal fistula skos:exactMatch mesh:D012003 semapv:UnspecifiedMatching MONDO:0000755 ectopic pregnancy skos:exactMatch DOID:0060329 ectopic pregnancy semapv:UnspecifiedMatching MONDO:0000755 ectopic pregnancy skos:exactMatch ICD10WHO:O00 Ectopic pregnancy semapv:UnspecifiedMatching MONDO:0000755 ectopic pregnancy skos:exactMatch MEDGEN:18618 semapv:UnspecifiedMatching MONDO:0000755 ectopic pregnancy skos:exactMatch NCIT:C34945 Ectopic Pregnancy semapv:UnspecifiedMatching MONDO:0000755 ectopic pregnancy skos:exactMatch SCTID:34801009 semapv:UnspecifiedMatching MONDO:0000755 ectopic pregnancy skos:exactMatch UMLS:C0032987 semapv:UnspecifiedMatching MONDO:0000755 ectopic pregnancy skos:exactMatch icd11.foundation:1563334645 Ectopic pregnancy semapv:UnspecifiedMatching MONDO:0000755 ectopic pregnancy skos:exactMatch mesh:D011271 semapv:UnspecifiedMatching MONDO:0000756 parameningeal embryonal rhabdomyosarcoma skos:exactMatch DOID:0060338 parameningeal embryonal rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0000757 glucocorticoid-induced osteoporosis skos:exactMatch DOID:0060343 glucocorticoid-induced osteoporosis semapv:UnspecifiedMatching MONDO:0000758 bacillary angiomatosis skos:exactMatch DOID:0060345 bacillary angiomatosis semapv:UnspecifiedMatching MONDO:0000758 bacillary angiomatosis skos:exactMatch MEDGEN:88409 semapv:UnspecifiedMatching MONDO:0000758 bacillary angiomatosis skos:exactMatch NCIT:C3477 Bacillary Angiomatosis semapv:UnspecifiedMatching MONDO:0000758 bacillary angiomatosis skos:exactMatch SCTID:58213005 semapv:UnspecifiedMatching MONDO:0000758 bacillary angiomatosis skos:exactMatch UMLS:C0085434 semapv:UnspecifiedMatching MONDO:0000758 bacillary angiomatosis skos:exactMatch icd11.foundation:1416616903 Bacillary angiomatosis semapv:UnspecifiedMatching MONDO:0000758 bacillary angiomatosis skos:exactMatch mesh:D016917 semapv:UnspecifiedMatching MONDO:0000761 syndrome caused by partial chromosomal deletion skos:exactMatch DOID:0060388 chromosomal deletion syndrome semapv:UnspecifiedMatching MONDO:0000762 syndrome caused by partial chromosomal duplication skos:exactMatch DOID:0060429 chromosomal duplication syndrome semapv:UnspecifiedMatching MONDO:0000763 epithelial and subepithelial corneal dystrophy skos:exactMatch DOID:0060440 epithelial and subepithelial dystrophy semapv:UnspecifiedMatching MONDO:0000764 epithelial-stromal TGFBI dystrophy skos:exactMatch DOID:0060441 epithelial-stromal TGFBI dystrophy semapv:UnspecifiedMatching MONDO:0000766 corneal endothelial dystrophy skos:exactMatch DOID:0060443 corneal endothelial dystrophy semapv:UnspecifiedMatching MONDO:0000766 corneal endothelial dystrophy skos:exactMatch MEDGEN:1779156 semapv:UnspecifiedMatching MONDO:0000766 corneal endothelial dystrophy skos:exactMatch SCTID:416960004 semapv:UnspecifiedMatching MONDO:0000766 corneal endothelial dystrophy skos:exactMatch UMLS:C5441823 semapv:UnspecifiedMatching MONDO:0000769 obsolete chicken egg allergy skos:exactMatch DOID:0060492 chicken egg allergy semapv:UnspecifiedMatching MONDO:0000770 obsolete shellfish allergy skos:exactMatch DOID:0060495 shellfish allergy semapv:UnspecifiedMatching MONDO:0000770 obsolete shellfish allergy skos:exactMatch NCIT:C172320 Shellfish Allergy semapv:UnspecifiedMatching MONDO:0000770 obsolete shellfish allergy skos:exactMatch SCTID:300913006 semapv:UnspecifiedMatching MONDO:0000770 obsolete shellfish allergy skos:exactMatch mesh:D000067208 semapv:UnspecifiedMatching MONDO:0000771 allergic respiratory disease skos:exactMatch DOID:0060496 respiratory allergy semapv:UnspecifiedMatching MONDO:0000771 allergic respiratory disease skos:exactMatch MEDGEN:734246 semapv:UnspecifiedMatching MONDO:0000771 allergic respiratory disease skos:exactMatch UMLS:C1504369 semapv:UnspecifiedMatching MONDO:0000772 obsolete pollen allergy skos:exactMatch DOID:0060497 pollen allergy semapv:UnspecifiedMatching MONDO:0000773 obsolete Timothy grass allergy skos:exactMatch DOID:0060498 Timothy grass allergy semapv:UnspecifiedMatching MONDO:0000774 autoimmune neuropathy skos:exactMatch DOID:0040087 autoimmune peripheral neuropathy semapv:UnspecifiedMatching MONDO:0000774 autoimmune neuropathy skos:exactMatch DOID:0060499 autoimmune neuropathy semapv:UnspecifiedMatching MONDO:0000774 autoimmune neuropathy skos:exactMatch MEDGEN:1843469 semapv:UnspecifiedMatching MONDO:0000774 autoimmune neuropathy skos:exactMatch UMLS:C2748363 semapv:UnspecifiedMatching MONDO:0000775 drug allergy skos:exactMatch DOID:0060500 drug allergy semapv:UnspecifiedMatching MONDO:0000775 drug allergy skos:exactMatch EFO:0009482 semapv:UnspecifiedMatching MONDO:0000775 drug allergy skos:exactMatch MEDGEN:41663 semapv:UnspecifiedMatching MONDO:0000775 drug allergy skos:exactMatch UMLS:C0013182 semapv:UnspecifiedMatching MONDO:0000775 drug allergy skos:exactMatch mesh:D004342 semapv:UnspecifiedMatching MONDO:0000776 obsolete metal allergy skos:exactMatch DOID:0060501 metal allergy semapv:UnspecifiedMatching MONDO:0000776 obsolete metal allergy skos:exactMatch SCTID:300915004 semapv:UnspecifiedMatching MONDO:0000777 gastrointestinal allergy skos:exactMatch DOID:0060502 gastrointestinal allergy semapv:UnspecifiedMatching MONDO:0000777 gastrointestinal allergy skos:exactMatch MEDGEN:1843477 semapv:UnspecifiedMatching MONDO:0000777 gastrointestinal allergy skos:exactMatch UMLS:C0221034 semapv:UnspecifiedMatching MONDO:0000778 obsolete fruit allergy skos:exactMatch DOID:0060503 fruit allergy semapv:UnspecifiedMatching MONDO:0000778 obsolete fruit allergy skos:exactMatch NCIT:C172316 Fruit Allergy semapv:UnspecifiedMatching MONDO:0000779 obsolete apple allergy skos:exactMatch DOID:0060504 apple allergy semapv:UnspecifiedMatching MONDO:0000780 obsolete apricot allergy skos:exactMatch DOID:0060505 apricot allergy semapv:UnspecifiedMatching MONDO:0000781 obsolete cherry allergy skos:exactMatch DOID:0060506 cherry allergy semapv:UnspecifiedMatching MONDO:0000782 obsolete Indian plum allergy skos:exactMatch DOID:0060507 Indian plum allergy semapv:UnspecifiedMatching MONDO:0000783 obsolete orange allergy skos:exactMatch DOID:0060508 orange allergy semapv:UnspecifiedMatching MONDO:0000784 obsolete melon allergy skos:exactMatch DOID:0060509 melon allergy semapv:UnspecifiedMatching MONDO:0000785 obsolete peach allergy skos:exactMatch DOID:0060510 peach allergy semapv:UnspecifiedMatching MONDO:0000786 obsolete plum allergy skos:exactMatch DOID:0060511 plum allergy semapv:UnspecifiedMatching MONDO:0000787 obsolete tomato allergy skos:exactMatch DOID:0060512 tomato allergy semapv:UnspecifiedMatching MONDO:0000788 obsolete fish allergy skos:exactMatch DOID:0060513 fish allergy semapv:UnspecifiedMatching MONDO:0000789 obsolete Atlantic cod allergy skos:exactMatch DOID:0060514 Atlantic cod allergy semapv:UnspecifiedMatching MONDO:0000790 obsolete Atlantic salmon allergy skos:exactMatch DOID:0060515 Atlantic salmon allergy semapv:UnspecifiedMatching MONDO:0000791 obsolete carp allergy skos:exactMatch DOID:0060516 carp allergy semapv:UnspecifiedMatching MONDO:0000792 obsolete zebrafish allergy skos:exactMatch DOID:0060517 zebrafish allergy semapv:UnspecifiedMatching MONDO:0000793 obsolete rainbow trout allergy skos:exactMatch DOID:0060518 rainbow trout allergy semapv:UnspecifiedMatching MONDO:0000794 obsolete beta-lactam allergy skos:exactMatch DOID:0060519 beta-lactam allergy semapv:UnspecifiedMatching MONDO:0000795 obsolete penicillin allergy skos:exactMatch DOID:0060520 penicillin allergy semapv:UnspecifiedMatching MONDO:0000795 obsolete penicillin allergy skos:exactMatch NCIT:C34911 Penicillin Allergy semapv:UnspecifiedMatching MONDO:0000795 obsolete penicillin allergy skos:exactMatch SCTID:91936005 semapv:UnspecifiedMatching MONDO:0000796 obsolete cow milk allergy skos:exactMatch DOID:0060521 cow milk allergy semapv:UnspecifiedMatching MONDO:0000797 obsolete goat milk allergy skos:exactMatch DOID:0060522 goat milk allergy semapv:UnspecifiedMatching MONDO:0000798 obsolete mollusc allergy skos:exactMatch DOID:0060523 mollusc allergy semapv:UnspecifiedMatching MONDO:0000799 obsolete crustacean allergy skos:exactMatch DOID:0060524 crustacean allergy semapv:UnspecifiedMatching MONDO:0000800 obsolete brown shrimp allergy skos:exactMatch DOID:0060525 brown shrimp allergy semapv:UnspecifiedMatching MONDO:0000801 obsolete green mud crab allergy skos:exactMatch DOID:0060526 crab allergy semapv:UnspecifiedMatching MONDO:0000802 obsolete Indian prawn allergy skos:exactMatch DOID:0060527 Indian prawn allergy semapv:UnspecifiedMatching MONDO:0000803 obsolete tiger prawn allergy skos:exactMatch DOID:0060528 tiger prawn allergy semapv:UnspecifiedMatching MONDO:0000804 obsolete white shrimp allergy skos:exactMatch DOID:0060529 white shrimp allergy semapv:UnspecifiedMatching MONDO:0000805 obsolete snail allergy skos:exactMatch DOID:0060530 snail allergy semapv:UnspecifiedMatching MONDO:0000806 obsolete horned turban snail allergy skos:exactMatch DOID:0060531 horned turban snail allergy semapv:UnspecifiedMatching MONDO:0000807 latex allergy skos:exactMatch DOID:0060532 latex allergy semapv:UnspecifiedMatching MONDO:0000807 latex allergy skos:exactMatch MEDGEN:107909 semapv:UnspecifiedMatching MONDO:0000807 latex allergy skos:exactMatch SCTID:300916003 semapv:UnspecifiedMatching MONDO:0000807 latex allergy skos:exactMatch UMLS:C0577628 semapv:UnspecifiedMatching MONDO:0000807 latex allergy skos:exactMatch mesh:D020315 semapv:UnspecifiedMatching MONDO:0000809 purpura fulminans skos:exactMatch DOID:0060538 purpura fulminans semapv:UnspecifiedMatching MONDO:0000809 purpura fulminans skos:exactMatch MEDGEN:88448 semapv:UnspecifiedMatching MONDO:0000809 purpura fulminans skos:exactMatch SCTID:13507004 semapv:UnspecifiedMatching MONDO:0000809 purpura fulminans skos:exactMatch UMLS:C0085650 semapv:UnspecifiedMatching MONDO:0000809 purpura fulminans skos:exactMatch icd11.foundation:1293848111 Purpura fulminans semapv:UnspecifiedMatching MONDO:0000809 purpura fulminans skos:exactMatch mesh:D055665 semapv:UnspecifiedMatching MONDO:0000811 anomalous left coronary artery from the pulmonary artery skos:exactMatch DOID:0060562 anomalous left coronary artery from the pulmonary artery semapv:UnspecifiedMatching MONDO:0000811 anomalous left coronary artery from the pulmonary artery skos:exactMatch MEDGEN:760471 semapv:UnspecifiedMatching MONDO:0000811 anomalous left coronary artery from the pulmonary artery skos:exactMatch UMLS:C1735886 semapv:UnspecifiedMatching MONDO:0000811 anomalous left coronary artery from the pulmonary artery skos:exactMatch mesh:D063748 semapv:UnspecifiedMatching MONDO:0000812 vertebral column disorder skos:exactMatch DOID:0060564 spinal disease semapv:UnspecifiedMatching MONDO:0000812 vertebral column disorder skos:exactMatch MEDGEN:52455 semapv:UnspecifiedMatching MONDO:0000812 vertebral column disorder skos:exactMatch SCTID:699699005 semapv:UnspecifiedMatching MONDO:0000812 vertebral column disorder skos:exactMatch UMLS:C0037933 semapv:UnspecifiedMatching MONDO:0000812 vertebral column disorder skos:exactMatch icd11.foundation:1989556002 Conditions associated with the spine semapv:UnspecifiedMatching MONDO:0000812 vertebral column disorder skos:exactMatch mesh:D013122 semapv:UnspecifiedMatching MONDO:0000813 cardiac tuberculosis skos:exactMatch DOID:0060570 cardiac tuberculosis semapv:UnspecifiedMatching MONDO:0000813 cardiac tuberculosis skos:exactMatch MEDGEN:1830134 semapv:UnspecifiedMatching MONDO:0000813 cardiac tuberculosis skos:exactMatch UMLS:C5704594 semapv:UnspecifiedMatching MONDO:0000813 cardiac tuberculosis skos:exactMatch mesh:D014381 semapv:UnspecifiedMatching MONDO:0000814 B-cell adult acute lymphocytic leukemia skos:exactMatch DOID:0060592 B-cell adult acute lymphocytic leukemia semapv:UnspecifiedMatching MONDO:0000814 B-cell adult acute lymphocytic leukemia skos:exactMatch EFO:1001935 semapv:UnspecifiedMatching MONDO:0000814 B-cell adult acute lymphocytic leukemia skos:exactMatch MEDGEN:79010 semapv:UnspecifiedMatching MONDO:0000814 B-cell adult acute lymphocytic leukemia skos:exactMatch NCIT:C9143 Adult B Acute Lymphoblastic Leukemia semapv:UnspecifiedMatching MONDO:0000814 B-cell adult acute lymphocytic leukemia skos:exactMatch UMLS:C0279593 semapv:UnspecifiedMatching MONDO:0000815 fetal nicotine spectrum disorder skos:exactMatch DOID:0060606 fetal nicotine spectrum disorder semapv:UnspecifiedMatching MONDO:0000816 abdominal obesity-metabolic syndrome skos:exactMatch DOID:0060611 abdominal obesity-metabolic syndrome semapv:UnspecifiedMatching MONDO:0000816 abdominal obesity-metabolic syndrome skos:exactMatch ICD10CM:E88.81 Metabolic syndrome and other insulin resistance semapv:UnspecifiedMatching MONDO:0000816 abdominal obesity-metabolic syndrome skos:exactMatch MEDGEN:419670 semapv:UnspecifiedMatching MONDO:0000816 abdominal obesity-metabolic syndrome skos:exactMatch NCIT:C84442 Metabolic Syndrome semapv:UnspecifiedMatching MONDO:0000816 abdominal obesity-metabolic syndrome skos:exactMatch OMIMPS:605552 Abdominal obesity-metabolic syndrome semapv:UnspecifiedMatching MONDO:0000816 abdominal obesity-metabolic syndrome skos:exactMatch UMLS:C2930930 semapv:UnspecifiedMatching MONDO:0000816 abdominal obesity-metabolic syndrome skos:exactMatch icd11.foundation:1824742930 Metabolic syndrome semapv:UnspecifiedMatching MONDO:0000816 abdominal obesity-metabolic syndrome skos:exactMatch mesh:C535554 semapv:UnspecifiedMatching MONDO:0000819 anencephaly skos:exactMatch DOID:0060668 anencephaly semapv:UnspecifiedMatching MONDO:0000819 anencephaly skos:exactMatch ICD10CM:Q00.0 Anencephaly semapv:UnspecifiedMatching MONDO:0000819 anencephaly skos:exactMatch MEDGEN:8068 semapv:UnspecifiedMatching MONDO:0000819 anencephaly skos:exactMatch NCIT:C84560 Anencephaly semapv:UnspecifiedMatching MONDO:0000819 anencephaly skos:exactMatch OMIMPS:206500 Anencephaly semapv:UnspecifiedMatching MONDO:0000819 anencephaly skos:exactMatch UMLS:C0002902 semapv:UnspecifiedMatching MONDO:0000819 anencephaly skos:exactMatch icd11.foundation:1292761836 Anencephaly semapv:UnspecifiedMatching MONDO:0000819 anencephaly skos:exactMatch mesh:D000757 semapv:UnspecifiedMatching MONDO:0000820 cerebral cavernous malformation skos:exactMatch DOID:0060669 cerebral cavernous malformation semapv:UnspecifiedMatching MONDO:0000820 cerebral cavernous malformation skos:exactMatch MEDGEN:418825 semapv:UnspecifiedMatching MONDO:0000820 cerebral cavernous malformation skos:exactMatch NCIT:C84626 Cerebral Cavernous Malformation semapv:UnspecifiedMatching MONDO:0000820 cerebral cavernous malformation skos:exactMatch UMLS:C2919945 semapv:UnspecifiedMatching MONDO:0000820 cerebral cavernous malformation skos:exactMatch icd11.foundation:916773262 Cerebral cavernous malformation semapv:UnspecifiedMatching MONDO:0000824 congenital diarrhea skos:exactMatch DOID:0060774 congenital diarrhea semapv:UnspecifiedMatching MONDO:0000824 congenital diarrhea skos:exactMatch MEDGEN:1877146 semapv:UnspecifiedMatching MONDO:0000824 congenital diarrhea skos:exactMatch OMIMPS:214700 Diarrhea, congenital semapv:UnspecifiedMatching MONDO:0000824 congenital diarrhea skos:exactMatch UMLS:C6013449 semapv:UnspecifiedMatching MONDO:0000827 salmonellosis skos:exactMatch DOID:0060859 salmonellosis semapv:UnspecifiedMatching MONDO:0000827 salmonellosis skos:exactMatch MEDGEN:48542 semapv:UnspecifiedMatching MONDO:0000827 salmonellosis skos:exactMatch NCIT:C157974 Salmonellosis semapv:UnspecifiedMatching MONDO:0000827 salmonellosis skos:exactMatch Orphanet:795 Rare form of salmonellosis semapv:UnspecifiedMatching MONDO:0000827 salmonellosis skos:exactMatch SCTID:302231008 semapv:UnspecifiedMatching MONDO:0000827 salmonellosis skos:exactMatch UMLS:C0036117 semapv:UnspecifiedMatching MONDO:0000827 salmonellosis skos:exactMatch mesh:D012480 semapv:UnspecifiedMatching MONDO:0000828 juvenile-onset Parkinson disease skos:exactMatch DOID:0060893 juvenile-onset Parkinson's disease semapv:UnspecifiedMatching MONDO:0000828 juvenile-onset Parkinson disease skos:exactMatch MEDGEN:155699 semapv:UnspecifiedMatching MONDO:0000828 juvenile-onset Parkinson disease skos:exactMatch UMLS:C0752105 semapv:UnspecifiedMatching MONDO:0000831 thrombotic disease skos:exactMatch DOID:0060903 thrombosis semapv:UnspecifiedMatching MONDO:0000831 thrombotic disease skos:exactMatch MEDGEN:21160 semapv:UnspecifiedMatching MONDO:0000831 thrombotic disease skos:exactMatch NCIT:C26891 Thrombosis semapv:UnspecifiedMatching MONDO:0000831 thrombotic disease skos:exactMatch SCTID:439127006 semapv:UnspecifiedMatching MONDO:0000831 thrombotic disease skos:exactMatch UMLS:C0040053 semapv:UnspecifiedMatching MONDO:0000831 thrombotic disease skos:exactMatch mesh:D013927 semapv:UnspecifiedMatching MONDO:0000833 bone remodeling disease skos:exactMatch DOID:0080005 bone remodeling disease semapv:UnspecifiedMatching MONDO:0000834 obsolete bone deterioration disease skos:exactMatch DOID:0080007 bone deterioration disease semapv:UnspecifiedMatching MONDO:0000836 disease of bone structure skos:exactMatch DOID:0080010 bone structure disease semapv:UnspecifiedMatching MONDO:0000836 disease of bone structure skos:exactMatch MEDGEN:1843487 semapv:UnspecifiedMatching MONDO:0000836 disease of bone structure skos:exactMatch UMLS:C0477681 semapv:UnspecifiedMatching MONDO:0000837 bone resorption disease skos:exactMatch DOID:0080011 bone resorption disease semapv:UnspecifiedMatching MONDO:0000837 bone resorption disease skos:exactMatch MEDGEN:14188 semapv:UnspecifiedMatching MONDO:0000837 bone resorption disease skos:exactMatch UMLS:C0005974 semapv:UnspecifiedMatching MONDO:0000837 bone resorption disease skos:exactMatch mesh:D001862 semapv:UnspecifiedMatching MONDO:0000839 obsolete congenital abnormality skos:exactMatch DOID:0080015 physical disorder semapv:UnspecifiedMatching MONDO:0000839 obsolete congenital abnormality skos:exactMatch NCIT:C2849 Congenital Abnormality semapv:UnspecifiedMatching MONDO:0000839 obsolete congenital abnormality skos:exactMatch SCTID:276654001 semapv:UnspecifiedMatching MONDO:0000839 obsolete congenital abnormality skos:exactMatch mesh:D000013 semapv:UnspecifiedMatching MONDO:0000840 dysbaric osteonecrosis skos:exactMatch DOID:0080018 dysbaric osteonecrosis semapv:UnspecifiedMatching MONDO:0000840 dysbaric osteonecrosis skos:exactMatch MEDGEN:782135 semapv:UnspecifiedMatching MONDO:0000840 dysbaric osteonecrosis skos:exactMatch SCTID:431591000124102 semapv:UnspecifiedMatching MONDO:0000840 dysbaric osteonecrosis skos:exactMatch UMLS:C3494941 semapv:UnspecifiedMatching MONDO:0000845 fibrous dysplasia skos:exactMatch DOID:0080031 fibrous dysplasia semapv:UnspecifiedMatching MONDO:0000845 fibrous dysplasia skos:exactMatch MEDGEN:120444 semapv:UnspecifiedMatching MONDO:0000845 fibrous dysplasia skos:exactMatch NCIT:C34609 Fibrous Dysplasia semapv:UnspecifiedMatching MONDO:0000845 fibrous dysplasia skos:exactMatch Orphanet:249 Fibrous dysplasia of bone semapv:UnspecifiedMatching MONDO:0000845 fibrous dysplasia skos:exactMatch SCTID:10623005 semapv:UnspecifiedMatching MONDO:0000845 fibrous dysplasia skos:exactMatch SCTID:254145001 semapv:UnspecifiedMatching MONDO:0000845 fibrous dysplasia skos:exactMatch UMLS:C0259779 semapv:UnspecifiedMatching MONDO:0000845 fibrous dysplasia skos:exactMatch icd11.foundation:1704766818 Fibrous dysplasia of bone semapv:UnspecifiedMatching MONDO:0000845 fibrous dysplasia skos:exactMatch mesh:D005357 semapv:UnspecifiedMatching MONDO:0000849 fibrogenesis imperfecta ossium skos:exactMatch DOID:0080040 fibrogenesis imperfecta ossium semapv:UnspecifiedMatching MONDO:0000857 obsolete Charcot-Marie-Tooth disease type 7 skos:exactMatch DOID:0080069 Charcot-Marie-Tooth disease type 7 semapv:UnspecifiedMatching MONDO:0000858 neuronal intestinal dysplasia skos:exactMatch DOID:0080072 intestinal pseudo-obstruction semapv:UnspecifiedMatching MONDO:0000858 neuronal intestinal dysplasia skos:exactMatch MEDGEN:576840 semapv:UnspecifiedMatching MONDO:0000858 neuronal intestinal dysplasia skos:exactMatch SCTID:253783001 semapv:UnspecifiedMatching MONDO:0000858 neuronal intestinal dysplasia skos:exactMatch UMLS:C0345244 semapv:UnspecifiedMatching MONDO:0000859 spina bifida occulta skos:exactMatch DOID:0080073 spina bifida occulta semapv:UnspecifiedMatching MONDO:0000859 spina bifida occulta skos:exactMatch ICD10CM:Q76.0 Spina bifida occulta semapv:UnspecifiedMatching MONDO:0000859 spina bifida occulta skos:exactMatch MEDGEN:36380 semapv:UnspecifiedMatching MONDO:0000859 spina bifida occulta skos:exactMatch NCIT:C101044 Spina Bifida Occulta semapv:UnspecifiedMatching MONDO:0000859 spina bifida occulta skos:exactMatch Orphanet:645202 Closed spinal dysraphism semapv:UnspecifiedMatching MONDO:0000859 spina bifida occulta skos:exactMatch SCTID:76916001 semapv:UnspecifiedMatching MONDO:0000859 spina bifida occulta skos:exactMatch UMLS:C0080174 semapv:UnspecifiedMatching MONDO:0000859 spina bifida occulta skos:exactMatch icd11.foundation:449489594 Occult spinal dysraphism semapv:UnspecifiedMatching MONDO:0000859 spina bifida occulta skos:exactMatch mesh:D016136 semapv:UnspecifiedMatching MONDO:0000863 myopathy, lactic acidosis, and sideroblastic anemia skos:exactMatch DOID:0080099 myopathy, lactic acidosis, and sideroblastic anemia semapv:UnspecifiedMatching MONDO:0000863 myopathy, lactic acidosis, and sideroblastic anemia skos:exactMatch MEDGEN:373888 semapv:UnspecifiedMatching MONDO:0000863 myopathy, lactic acidosis, and sideroblastic anemia skos:exactMatch OMIMPS:600462 Myopathy, lactic acidosis, and sideroblastic anemia semapv:UnspecifiedMatching MONDO:0000863 myopathy, lactic acidosis, and sideroblastic anemia skos:exactMatch Orphanet:2598 Mitochondrial myopathy and sideroblastic anemia semapv:UnspecifiedMatching MONDO:0000863 myopathy, lactic acidosis, and sideroblastic anemia skos:exactMatch SCTID:724138007 semapv:UnspecifiedMatching MONDO:0000863 myopathy, lactic acidosis, and sideroblastic anemia skos:exactMatch UMLS:C1838103 semapv:UnspecifiedMatching MONDO:0000863 myopathy, lactic acidosis, and sideroblastic anemia skos:exactMatch icd11.foundation:678852156 Mitochondrial myopathy with sideroblastic anaemia semapv:UnspecifiedMatching MONDO:0000863 myopathy, lactic acidosis, and sideroblastic anemia skos:exactMatch mesh:C536101 semapv:UnspecifiedMatching MONDO:0000866 obsolete hereditary myoglobinuria skos:exactMatch DOID:0080108 myoglobinuria semapv:UnspecifiedMatching MONDO:0000866 obsolete hereditary myoglobinuria skos:exactMatch ICD10CM:R82.1 Myoglobinuria semapv:UnspecifiedMatching MONDO:0000866 obsolete hereditary myoglobinuria skos:exactMatch NCIT:C114705 Myoglobinuria semapv:UnspecifiedMatching MONDO:0000866 obsolete hereditary myoglobinuria skos:exactMatch mesh:D009212 semapv:UnspecifiedMatching MONDO:0000870 childhood acute lymphoblastic leukemia skos:exactMatch DOID:0080144 childhood acute lymphocytic leukemia semapv:UnspecifiedMatching MONDO:0000870 childhood acute lymphoblastic leukemia skos:exactMatch MEDGEN:44122 semapv:UnspecifiedMatching MONDO:0000870 childhood acute lymphoblastic leukemia skos:exactMatch NCIT:C3168 Childhood Acute Lymphoblastic Leukemia semapv:UnspecifiedMatching MONDO:0000870 childhood acute lymphoblastic leukemia skos:exactMatch UMLS:C0023452 semapv:UnspecifiedMatching MONDO:0000871 T-cell childhood acute lymphocytic leukemia skos:exactMatch DOID:0080145 childhood T-cell acute lymphoblastic leukemia semapv:UnspecifiedMatching MONDO:0000871 T-cell childhood acute lymphocytic leukemia skos:exactMatch EFO:1001947 semapv:UnspecifiedMatching MONDO:0000871 T-cell childhood acute lymphocytic leukemia skos:exactMatch MEDGEN:75996 semapv:UnspecifiedMatching MONDO:0000871 T-cell childhood acute lymphocytic leukemia skos:exactMatch NCIT:C7953 Childhood T Acute Lymphoblastic Leukemia semapv:UnspecifiedMatching MONDO:0000871 T-cell childhood acute lymphocytic leukemia skos:exactMatch UMLS:C0279583 semapv:UnspecifiedMatching MONDO:0000872 B-cell childhood acute lymphoblastic leukemia skos:exactMatch DOID:0080146 childhood B-cell acute lymphoblastic leukemia semapv:UnspecifiedMatching MONDO:0000872 B-cell childhood acute lymphoblastic leukemia skos:exactMatch EFO:1001946 semapv:UnspecifiedMatching MONDO:0000872 B-cell childhood acute lymphoblastic leukemia skos:exactMatch MEDGEN:83526 semapv:UnspecifiedMatching MONDO:0000872 B-cell childhood acute lymphoblastic leukemia skos:exactMatch NCIT:C9140 Childhood B Acute Lymphoblastic Leukemia semapv:UnspecifiedMatching MONDO:0000872 B-cell childhood acute lymphoblastic leukemia skos:exactMatch UMLS:C0279584 semapv:UnspecifiedMatching MONDO:0000873 lymphoblastic lymphoma skos:exactMatch DOID:0080147 lymphoblastic lymphoma semapv:UnspecifiedMatching MONDO:0000873 lymphoblastic lymphoma skos:exactMatch MEDGEN:42541 semapv:UnspecifiedMatching MONDO:0000873 lymphoblastic lymphoma skos:exactMatch NCIT:C9360 Lymphoblastic Lymphoma semapv:UnspecifiedMatching MONDO:0000873 lymphoblastic lymphoma skos:exactMatch SCTID:109965004 semapv:UnspecifiedMatching MONDO:0000873 lymphoblastic lymphoma skos:exactMatch UMLS:C0079748 semapv:UnspecifiedMatching MONDO:0000874 T-cell childhood lymphoblastic lymphoma skos:exactMatch DOID:0080148 T-cell childhood lymphoblastic lymphoma semapv:UnspecifiedMatching MONDO:0000874 T-cell childhood lymphoblastic lymphoma skos:exactMatch MEDGEN:232068 semapv:UnspecifiedMatching MONDO:0000874 T-cell childhood lymphoblastic lymphoma skos:exactMatch NCIT:C7210 Childhood T Lymphoblastic Lymphoma semapv:UnspecifiedMatching MONDO:0000874 T-cell childhood lymphoblastic lymphoma skos:exactMatch UMLS:C1332998 semapv:UnspecifiedMatching MONDO:0000875 adult acute monocytic leukemia skos:exactMatch DOID:0080149 adult acute monocytic leukemia semapv:UnspecifiedMatching MONDO:0000875 adult acute monocytic leukemia skos:exactMatch EFO:1001933 semapv:UnspecifiedMatching MONDO:0000875 adult acute monocytic leukemia skos:exactMatch MEDGEN:128856 semapv:UnspecifiedMatching MONDO:0000875 adult acute monocytic leukemia skos:exactMatch NCIT:C8263 Adult Acute Monocytic Leukemia semapv:UnspecifiedMatching MONDO:0000875 adult acute monocytic leukemia skos:exactMatch UMLS:C0280634 semapv:UnspecifiedMatching MONDO:0000878 cytomegalovirus retinitis skos:exactMatch DOID:0080160 Cytomegalovirus retinitis semapv:UnspecifiedMatching MONDO:0000878 cytomegalovirus retinitis skos:exactMatch EFO:1001302 semapv:UnspecifiedMatching MONDO:0000878 cytomegalovirus retinitis skos:exactMatch MEDGEN:61532 semapv:UnspecifiedMatching MONDO:0000878 cytomegalovirus retinitis skos:exactMatch NCIT:C50521 Cytomegaloviral Retinitis semapv:UnspecifiedMatching MONDO:0000878 cytomegalovirus retinitis skos:exactMatch SCTID:22455005 semapv:UnspecifiedMatching MONDO:0000878 cytomegalovirus retinitis skos:exactMatch UMLS:C0206178 semapv:UnspecifiedMatching MONDO:0000878 cytomegalovirus retinitis skos:exactMatch icd11.foundation:315493536 Cytomegaloviral retinitis semapv:UnspecifiedMatching MONDO:0000878 cytomegalovirus retinitis skos:exactMatch mesh:D017726 semapv:UnspecifiedMatching MONDO:0000879 cutaneous candidiasis skos:exactMatch DOID:0080161 cutaneous candidiasis semapv:UnspecifiedMatching MONDO:0000879 cutaneous candidiasis skos:exactMatch MEDGEN:2427 semapv:UnspecifiedMatching MONDO:0000879 cutaneous candidiasis skos:exactMatch UMLS:C0006846 semapv:UnspecifiedMatching MONDO:0000879 cutaneous candidiasis skos:exactMatch mesh:D002179 semapv:UnspecifiedMatching MONDO:0000888 gastrointestinal mucositis skos:exactMatch DOID:0080178 mucositis semapv:UnspecifiedMatching MONDO:0000888 gastrointestinal mucositis skos:exactMatch MEDGEN:636691 semapv:UnspecifiedMatching MONDO:0000888 gastrointestinal mucositis skos:exactMatch NCIT:C3853 Gastrointestinal Mucositis semapv:UnspecifiedMatching MONDO:0000888 gastrointestinal mucositis skos:exactMatch SCTID:95518006 semapv:UnspecifiedMatching MONDO:0000888 gastrointestinal mucositis skos:exactMatch UMLS:C0521585 semapv:UnspecifiedMatching MONDO:0000889 haemophilus meningitis skos:exactMatch DOID:0080179 haemophilus meningitis semapv:UnspecifiedMatching MONDO:0000889 haemophilus meningitis skos:exactMatch EFO:1000955 semapv:UnspecifiedMatching MONDO:0000889 haemophilus meningitis skos:exactMatch MEDGEN:7535 semapv:UnspecifiedMatching MONDO:0000889 haemophilus meningitis skos:exactMatch SCTID:192643004 semapv:UnspecifiedMatching MONDO:0000889 haemophilus meningitis skos:exactMatch SCTID:5900006 semapv:UnspecifiedMatching MONDO:0000889 haemophilus meningitis skos:exactMatch UMLS:C0025292 semapv:UnspecifiedMatching MONDO:0000889 haemophilus meningitis skos:exactMatch mesh:D008583 semapv:UnspecifiedMatching MONDO:0000890 Zika virus congenital syndrome skos:exactMatch DOID:0080180 Zika virus congenital syndrome semapv:UnspecifiedMatching MONDO:0000890 Zika virus congenital syndrome skos:exactMatch MEDGEN:1622152 semapv:UnspecifiedMatching MONDO:0000890 Zika virus congenital syndrome skos:exactMatch UMLS:C4546023 semapv:UnspecifiedMatching MONDO:0000890 Zika virus congenital syndrome skos:exactMatch icd11.foundation:755611612 Congenital Zika virus infection semapv:UnspecifiedMatching MONDO:0000891 mixed fibrolamellar hepatocellular carcinoma skos:exactMatch DOID:0080182 mixed fibrolamellar hepatocellular carcinoma semapv:UnspecifiedMatching MONDO:0000892 colon medullary carcinoma skos:exactMatch DOID:0080183 medullary colon carcinoma semapv:UnspecifiedMatching MONDO:0000892 colon medullary carcinoma skos:exactMatch MEDGEN:363630 semapv:UnspecifiedMatching MONDO:0000892 colon medullary carcinoma skos:exactMatch NCIT:C60641 Colon Medullary Carcinoma semapv:UnspecifiedMatching MONDO:0000892 colon medullary carcinoma skos:exactMatch UMLS:C1880119 semapv:UnspecifiedMatching MONDO:0000893 mixed mucinous and nonmucinous bronchioloalveolar adenocarcinoma skos:exactMatch DOID:0080184 mixed mucinous and nonmucinous bronchioloalveolar adenocarcinoma semapv:UnspecifiedMatching MONDO:0000893 mixed mucinous and nonmucinous bronchioloalveolar adenocarcinoma skos:exactMatch MEDGEN:220410 semapv:UnspecifiedMatching MONDO:0000893 mixed mucinous and nonmucinous bronchioloalveolar adenocarcinoma skos:exactMatch NCIT:C7270 Minimally Invasive Lung Mixed Non-Mucinous and Mucinous Adenocarcinoma semapv:UnspecifiedMatching MONDO:0000893 mixed mucinous and nonmucinous bronchioloalveolar adenocarcinoma skos:exactMatch UMLS:C1266036 semapv:UnspecifiedMatching MONDO:0000894 mucinous bronchioloalveolar adenocarcinoma skos:exactMatch DOID:0080185 mucinous bronchioloalveolar adenocarcinoma semapv:UnspecifiedMatching MONDO:0000894 mucinous bronchioloalveolar adenocarcinoma skos:exactMatch MEDGEN:1627584 semapv:UnspecifiedMatching MONDO:0000894 mucinous bronchioloalveolar adenocarcinoma skos:exactMatch UMLS:C2200125 semapv:UnspecifiedMatching MONDO:0000895 nonmucinous bronchioloalveolar adenocarcinoma skos:exactMatch DOID:0080186 nonmucinous bronchioloalveolar adenocarcinoma semapv:UnspecifiedMatching MONDO:0000895 nonmucinous bronchioloalveolar adenocarcinoma skos:exactMatch MEDGEN:266089 semapv:UnspecifiedMatching MONDO:0000895 nonmucinous bronchioloalveolar adenocarcinoma skos:exactMatch NCIT:C7269 Minimally Invasive Lung Non-Mucinous Adenocarcinoma semapv:UnspecifiedMatching MONDO:0000895 nonmucinous bronchioloalveolar adenocarcinoma skos:exactMatch UMLS:C1266034 semapv:UnspecifiedMatching MONDO:0000898 malignant hemangioma skos:exactMatch DOID:0080189 malignant hemangioma semapv:UnspecifiedMatching MONDO:0000898 malignant hemangioma skos:exactMatch MEDGEN:634243 semapv:UnspecifiedMatching MONDO:0000898 malignant hemangioma skos:exactMatch UMLS:C0474836 semapv:UnspecifiedMatching MONDO:0000901 relapsed/refractory diffuse large B-cell lymphoma skos:exactMatch DOID:0080192 relapsed/refractory diffuse large B-cell lymphoma semapv:UnspecifiedMatching MONDO:0000901 relapsed/refractory diffuse large B-cell lymphoma skos:exactMatch MEDGEN:208957 semapv:UnspecifiedMatching MONDO:0000901 relapsed/refractory diffuse large B-cell lymphoma skos:exactMatch UMLS:C0855112 semapv:UnspecifiedMatching MONDO:0000902 agenesis of the corpus callosum with peripheral neuropathy skos:exactMatch DOID:0090003 agenesis of the corpus callosum with peripheral neuropathy semapv:UnspecifiedMatching MONDO:0000902 agenesis of the corpus callosum with peripheral neuropathy skos:exactMatch MEDGEN:162893 semapv:UnspecifiedMatching MONDO:0000902 agenesis of the corpus callosum with peripheral neuropathy skos:exactMatch OMIM:218000 agenesis of the corpus callosum with peripheral neuropathy semapv:UnspecifiedMatching MONDO:0000902 agenesis of the corpus callosum with peripheral neuropathy skos:exactMatch Orphanet:1496 Corpus callosum agenesis-neuronopathy syndrome semapv:UnspecifiedMatching MONDO:0000902 agenesis of the corpus callosum with peripheral neuropathy skos:exactMatch SCTID:702439002 semapv:UnspecifiedMatching MONDO:0000902 agenesis of the corpus callosum with peripheral neuropathy skos:exactMatch UMLS:C0795950 semapv:UnspecifiedMatching MONDO:0000902 agenesis of the corpus callosum with peripheral neuropathy skos:exactMatch icd11.foundation:1443432032 Corpus callosum agenesis - neuronopathy semapv:UnspecifiedMatching MONDO:0000902 agenesis of the corpus callosum with peripheral neuropathy skos:exactMatch mesh:C536446 semapv:UnspecifiedMatching MONDO:0000903 myoclonus-dystonia syndrome skos:exactMatch DOID:0090033 myoclonic dystonia semapv:UnspecifiedMatching MONDO:0000903 myoclonus-dystonia syndrome skos:exactMatch Orphanet:36899 Myoclonus-dystonia syndrome semapv:UnspecifiedMatching MONDO:0000903 myoclonus-dystonia syndrome skos:exactMatch SCTID:439732004 semapv:UnspecifiedMatching MONDO:0000903 myoclonus-dystonia syndrome skos:exactMatch mesh:C536096 semapv:UnspecifiedMatching MONDO:0000904 complex cortical dysplasia with other brain malformations skos:exactMatch DOID:0090131 complex cortical dysplasia with other brain malformations semapv:UnspecifiedMatching MONDO:0000904 complex cortical dysplasia with other brain malformations skos:exactMatch OMIMPS:614039 Cortical dysplasia, complex, with other brain malformations semapv:UnspecifiedMatching MONDO:0000908 arrhythmogenic right ventricular dysplasia 13 skos:exactMatch DOID:0110084 arrhythmogenic right ventricular dysplasia 13 semapv:UnspecifiedMatching MONDO:0000908 arrhythmogenic right ventricular dysplasia 13 skos:exactMatch MEDGEN:816468 semapv:UnspecifiedMatching MONDO:0000908 arrhythmogenic right ventricular dysplasia 13 skos:exactMatch OMIM:615616 arrhythmogenic right ventricular dysplasia, familial, 13 semapv:UnspecifiedMatching MONDO:0000908 arrhythmogenic right ventricular dysplasia 13 skos:exactMatch UMLS:C3810138 semapv:UnspecifiedMatching MONDO:0000909 Bartter disease type 4B skos:exactMatch DOID:0110146 Bartter disease type 4b semapv:UnspecifiedMatching MONDO:0000909 Bartter disease type 4B skos:exactMatch MEDGEN:934772 semapv:UnspecifiedMatching MONDO:0000909 Bartter disease type 4B skos:exactMatch OMIM:613090 bartter syndrome, type 4b, neonatal, with sensorineural deafness semapv:UnspecifiedMatching MONDO:0000909 Bartter disease type 4B skos:exactMatch UMLS:C4310805 semapv:UnspecifiedMatching MONDO:0000910 retinitis pigmentosa 6 skos:exactMatch DOID:0110413 retinitis pigmentosa 6 semapv:UnspecifiedMatching MONDO:0000910 retinitis pigmentosa 6 skos:exactMatch MEDGEN:333305 semapv:UnspecifiedMatching MONDO:0000910 retinitis pigmentosa 6 skos:exactMatch OMIM:312612 retinitis pigmentosa 6 semapv:UnspecifiedMatching MONDO:0000910 retinitis pigmentosa 6 skos:exactMatch UMLS:C1839368 semapv:UnspecifiedMatching MONDO:0000910 retinitis pigmentosa 6 skos:exactMatch mesh:C564065 semapv:UnspecifiedMatching MONDO:0000911 obsolete dilated cardiomyopathy 1T skos:exactMatch DOID:0110452 dilated cardiomyopathy 1T semapv:UnspecifiedMatching MONDO:0000911 obsolete dilated cardiomyopathy 1T skos:exactMatch OMIM:613740 semapv:UnspecifiedMatching MONDO:0000911 obsolete dilated cardiomyopathy 1T skos:exactMatch mesh:C566052 semapv:UnspecifiedMatching MONDO:0000912 autosomal recessive nonsyndromic hearing loss 5 skos:exactMatch DOID:0110507 autosomal recessive nonsyndromic deafness 5 semapv:UnspecifiedMatching MONDO:0000912 autosomal recessive nonsyndromic hearing loss 5 skos:exactMatch MEDGEN:331485 semapv:UnspecifiedMatching MONDO:0000912 autosomal recessive nonsyndromic hearing loss 5 skos:exactMatch OMIM:600792 deafness, autosomal recessive 5 semapv:UnspecifiedMatching MONDO:0000912 autosomal recessive nonsyndromic hearing loss 5 skos:exactMatch UMLS:C1833319 semapv:UnspecifiedMatching MONDO:0000912 autosomal recessive nonsyndromic hearing loss 5 skos:exactMatch mesh:C563444 semapv:UnspecifiedMatching MONDO:0000913 hereditary spherocytosis type 2 skos:exactMatch DOID:0110917 hereditary spherocytosis type 2 semapv:UnspecifiedMatching MONDO:0000913 hereditary spherocytosis type 2 skos:exactMatch MEDGEN:436112 semapv:UnspecifiedMatching MONDO:0000913 hereditary spherocytosis type 2 skos:exactMatch OMIM:616649 spherocytosis, type 2 semapv:UnspecifiedMatching MONDO:0000913 hereditary spherocytosis type 2 skos:exactMatch UMLS:C2674219 semapv:UnspecifiedMatching MONDO:0000914 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 skos:exactMatch DOID:0111035 CADASIL 1 semapv:UnspecifiedMatching MONDO:0000914 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 skos:exactMatch MEDGEN:1634330 semapv:UnspecifiedMatching MONDO:0000914 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 skos:exactMatch NCIT:C84606 CADASIL Syndrome semapv:UnspecifiedMatching MONDO:0000914 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 skos:exactMatch OMIM:125310 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 semapv:UnspecifiedMatching MONDO:0000914 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 skos:exactMatch Orphanet:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy semapv:UnspecifiedMatching MONDO:0000914 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 skos:exactMatch SCTID:390936003 semapv:UnspecifiedMatching MONDO:0000914 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 skos:exactMatch UMLS:C4551768 semapv:UnspecifiedMatching MONDO:0000914 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 skos:exactMatch icd11.foundation:1621899838 CADASIL - [cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy] syndrome semapv:UnspecifiedMatching MONDO:0000914 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 skos:exactMatch mesh:D046589 semapv:UnspecifiedMatching MONDO:0000916 intestinal infectious disease skos:exactMatch DOID:100 intestinal infectious disease semapv:UnspecifiedMatching MONDO:0000916 intestinal infectious disease skos:exactMatch ICD10CM:A00-A09 Intestinal infectious diseases (A00-A09) semapv:UnspecifiedMatching MONDO:0000916 intestinal infectious disease skos:exactMatch MEDGEN:511728 semapv:UnspecifiedMatching MONDO:0000916 intestinal infectious disease skos:exactMatch SCTID:266071000 semapv:UnspecifiedMatching MONDO:0000916 intestinal infectious disease skos:exactMatch UMLS:C0178238 semapv:UnspecifiedMatching MONDO:0000918 endometritis skos:exactMatch DOID:1002 endometritis semapv:UnspecifiedMatching MONDO:0000918 endometritis skos:exactMatch EFO:1001312 semapv:UnspecifiedMatching MONDO:0000918 endometritis skos:exactMatch MEDGEN:41789 semapv:UnspecifiedMatching MONDO:0000918 endometritis skos:exactMatch NCIT:C26764 Endometritis semapv:UnspecifiedMatching MONDO:0000918 endometritis skos:exactMatch SCTID:78623009 semapv:UnspecifiedMatching MONDO:0000918 endometritis skos:exactMatch UMLS:C0014179 semapv:UnspecifiedMatching MONDO:0000918 endometritis skos:exactMatch mesh:D004716 semapv:UnspecifiedMatching MONDO:0000919 ampulla of vater cancer skos:exactMatch DOID:10020 ampulla of Vater cancer semapv:UnspecifiedMatching MONDO:0000919 ampulla of vater cancer skos:exactMatch ICD10CM:C24.1 Malignant neoplasm of ampulla of Vater semapv:UnspecifiedMatching MONDO:0000919 ampulla of vater cancer skos:exactMatch MEDGEN:57785 semapv:UnspecifiedMatching MONDO:0000919 ampulla of vater cancer skos:exactMatch NCIT:C3536 Malignant Ampulla of Vater Neoplasm semapv:UnspecifiedMatching MONDO:0000919 ampulla of vater cancer skos:exactMatch SCTID:363417006 semapv:UnspecifiedMatching MONDO:0000919 ampulla of vater cancer skos:exactMatch UMLS:C0153454 semapv:UnspecifiedMatching MONDO:0000920 duodenum cancer skos:exactMatch DOID:10021 duodenum cancer semapv:UnspecifiedMatching MONDO:0000920 duodenum cancer skos:exactMatch ICD10CM:C17.0 Malignant neoplasm of duodenum semapv:UnspecifiedMatching MONDO:0000920 duodenum cancer skos:exactMatch MEDGEN:56301 semapv:UnspecifiedMatching MONDO:0000920 duodenum cancer skos:exactMatch NCIT:C9328 Malignant Duodenal Neoplasm semapv:UnspecifiedMatching MONDO:0000920 duodenum cancer skos:exactMatch SCTID:363403002 semapv:UnspecifiedMatching MONDO:0000920 duodenum cancer skos:exactMatch UMLS:C0153426 semapv:UnspecifiedMatching MONDO:0000920 duodenum cancer skos:exactMatch icd11.foundation:1527322574 Malignant neoplasms of duodenum semapv:UnspecifiedMatching MONDO:0000920 duodenum cancer skos:exactMatch mesh:D004379 semapv:UnspecifiedMatching MONDO:0000921 ampulla of vater neoplasm skos:exactMatch DOID:10022 ampulla of Vater benign neoplasm semapv:UnspecifiedMatching MONDO:0000921 ampulla of vater neoplasm skos:exactMatch MEDGEN:138029 semapv:UnspecifiedMatching MONDO:0000921 ampulla of vater neoplasm skos:exactMatch NCIT:C4443 Ampulla of Vater Neoplasm semapv:UnspecifiedMatching MONDO:0000921 ampulla of vater neoplasm skos:exactMatch SCTID:126858004 semapv:UnspecifiedMatching MONDO:0000921 ampulla of vater neoplasm skos:exactMatch UMLS:C0345916 semapv:UnspecifiedMatching MONDO:0000922 pelvic inflammatory disease skos:exactMatch DOID:1003 pelvic inflammatory disease semapv:UnspecifiedMatching MONDO:0000922 pelvic inflammatory disease skos:exactMatch EFO:1001388 semapv:UnspecifiedMatching MONDO:0000922 pelvic inflammatory disease skos:exactMatch ICD10CM:N70-N77 Inflammatory diseases of female pelvic organs (N70-N77) semapv:UnspecifiedMatching MONDO:0000922 pelvic inflammatory disease skos:exactMatch MEDGEN:66845 semapv:UnspecifiedMatching MONDO:0000922 pelvic inflammatory disease skos:exactMatch NCIT:C3889 Pelvic Inflammatory Disease semapv:UnspecifiedMatching MONDO:0000922 pelvic inflammatory disease skos:exactMatch SCTID:198130006 semapv:UnspecifiedMatching MONDO:0000922 pelvic inflammatory disease skos:exactMatch UMLS:C0242172 semapv:UnspecifiedMatching MONDO:0000922 pelvic inflammatory disease skos:exactMatch mesh:D000292 semapv:UnspecifiedMatching MONDO:0000923 interstitial emphysema skos:exactMatch DOID:10030 pulmonary interstitial emphysema semapv:UnspecifiedMatching MONDO:0000923 interstitial emphysema skos:exactMatch ICD10CM:J98.2 Interstitial emphysema semapv:UnspecifiedMatching MONDO:0000923 interstitial emphysema skos:exactMatch MEDGEN:234586 semapv:UnspecifiedMatching MONDO:0000923 interstitial emphysema skos:exactMatch NCIT:C34571 Pulmonary Interstitial Emphysema semapv:UnspecifiedMatching MONDO:0000923 interstitial emphysema skos:exactMatch SCTID:77690003 semapv:UnspecifiedMatching MONDO:0000923 interstitial emphysema skos:exactMatch UMLS:C1370824 semapv:UnspecifiedMatching MONDO:0000923 interstitial emphysema skos:exactMatch icd11.foundation:2008095771 Interstitial emphysema semapv:UnspecifiedMatching MONDO:0000924 compensatory emphysema skos:exactMatch DOID:10031 compensatory emphysema semapv:UnspecifiedMatching MONDO:0000924 compensatory emphysema skos:exactMatch ICD10CM:J98.3 Compensatory emphysema semapv:UnspecifiedMatching MONDO:0000924 compensatory emphysema skos:exactMatch MEDGEN:510136 semapv:UnspecifiedMatching MONDO:0000924 compensatory emphysema skos:exactMatch SCTID:33325001 semapv:UnspecifiedMatching MONDO:0000924 compensatory emphysema skos:exactMatch UMLS:C0155918 semapv:UnspecifiedMatching MONDO:0000924 compensatory emphysema skos:exactMatch icd11.foundation:318427535 Compensatory emphysema semapv:UnspecifiedMatching MONDO:0000925 hyperlucent lung skos:exactMatch DOID:10032 hyperlucent lung semapv:UnspecifiedMatching MONDO:0000925 hyperlucent lung skos:exactMatch MEDGEN:101178 semapv:UnspecifiedMatching MONDO:0000925 hyperlucent lung skos:exactMatch UMLS:C0524799 semapv:UnspecifiedMatching MONDO:0000925 hyperlucent lung skos:exactMatch mesh:D019568 semapv:UnspecifiedMatching MONDO:0000926 eye accommodation disease skos:exactMatch DOID:10034 eye accommodation disease semapv:UnspecifiedMatching MONDO:0000926 eye accommodation disease skos:exactMatch MEDGEN:508925 semapv:UnspecifiedMatching MONDO:0000926 eye accommodation disease skos:exactMatch SCTID:54552008 semapv:UnspecifiedMatching MONDO:0000926 eye accommodation disease skos:exactMatch UMLS:C0152198 semapv:UnspecifiedMatching MONDO:0000927 asymptomatic neurosyphilis skos:exactMatch DOID:10035 asymptomatic neurosyphilis semapv:UnspecifiedMatching MONDO:0000927 asymptomatic neurosyphilis skos:exactMatch ICD10CM:A52.2 Asymptomatic neurosyphilis semapv:UnspecifiedMatching MONDO:0000927 asymptomatic neurosyphilis skos:exactMatch MEDGEN:102259 semapv:UnspecifiedMatching MONDO:0000927 asymptomatic neurosyphilis skos:exactMatch SCTID:37754005 semapv:UnspecifiedMatching MONDO:0000927 asymptomatic neurosyphilis skos:exactMatch UMLS:C0153167 semapv:UnspecifiedMatching MONDO:0000927 asymptomatic neurosyphilis skos:exactMatch icd11.foundation:453651926 Asymptomatic neurosyphilis semapv:UnspecifiedMatching MONDO:0000928 eyelid melanoma skos:exactMatch DOID:10040 malignant eyelid melanoma semapv:UnspecifiedMatching MONDO:0000928 eyelid melanoma skos:exactMatch MEDGEN:90937 semapv:UnspecifiedMatching MONDO:0000928 eyelid melanoma skos:exactMatch NCIT:C4358 Eyelid Melanoma semapv:UnspecifiedMatching MONDO:0000928 eyelid melanoma skos:exactMatch SCTID:231834005 semapv:UnspecifiedMatching MONDO:0000928 eyelid melanoma skos:exactMatch UMLS:C0339116 semapv:UnspecifiedMatching MONDO:0000929 balloon cell malignant melanoma skos:exactMatch DOID:10044 balloon cell malignant melanoma semapv:UnspecifiedMatching MONDO:0000929 balloon cell malignant melanoma skos:exactMatch MEDGEN:90780 semapv:UnspecifiedMatching MONDO:0000929 balloon cell malignant melanoma skos:exactMatch NCIT:C4227 Balloon Cell Melanoma semapv:UnspecifiedMatching MONDO:0000929 balloon cell malignant melanoma skos:exactMatch SCTID:403922007 semapv:UnspecifiedMatching MONDO:0000929 balloon cell malignant melanoma skos:exactMatch UMLS:C0334426 semapv:UnspecifiedMatching MONDO:0000930 nodular malignant melanoma skos:exactMatch DOID:10047 nodular malignant melanoma semapv:UnspecifiedMatching MONDO:0000930 nodular malignant melanoma skos:exactMatch EFO:0008515 semapv:UnspecifiedMatching MONDO:0000930 nodular malignant melanoma skos:exactMatch MEDGEN:83144 semapv:UnspecifiedMatching MONDO:0000930 nodular malignant melanoma skos:exactMatch NCIT:C4225 Cutaneous Nodular Melanoma semapv:UnspecifiedMatching MONDO:0000930 nodular malignant melanoma skos:exactMatch SCTID:254731001 semapv:UnspecifiedMatching MONDO:0000930 nodular malignant melanoma skos:exactMatch UMLS:C0334424 semapv:UnspecifiedMatching MONDO:0000931 endometrial disorder skos:exactMatch DOID:1005 endometrial disease semapv:UnspecifiedMatching MONDO:0000931 endometrial disorder skos:exactMatch MEDGEN:57473 semapv:UnspecifiedMatching MONDO:0000931 endometrial disorder skos:exactMatch NCIT:C3504 Endometrial Disorder semapv:UnspecifiedMatching MONDO:0000931 endometrial disorder skos:exactMatch SCTID:418632009 semapv:UnspecifiedMatching MONDO:0000931 endometrial disorder skos:exactMatch UMLS:C0151622 semapv:UnspecifiedMatching MONDO:0000933 subglottis neoplasm skos:exactMatch DOID:10069 subglottis benign neoplasm semapv:UnspecifiedMatching MONDO:0000933 subglottis neoplasm skos:exactMatch MEDGEN:87513 semapv:UnspecifiedMatching MONDO:0000933 subglottis neoplasm skos:exactMatch NCIT:C4426 Subglottis Neoplasm semapv:UnspecifiedMatching MONDO:0000933 subglottis neoplasm skos:exactMatch SCTID:126696001 semapv:UnspecifiedMatching MONDO:0000933 subglottis neoplasm skos:exactMatch UMLS:C0345746 semapv:UnspecifiedMatching MONDO:0000934 laryngeal leiomyoma skos:exactMatch DOID:10070 larynx leiomyoma semapv:UnspecifiedMatching MONDO:0000934 laryngeal leiomyoma skos:exactMatch MEDGEN:232691 semapv:UnspecifiedMatching MONDO:0000934 laryngeal leiomyoma skos:exactMatch NCIT:C6027 Laryngeal Leiomyoma semapv:UnspecifiedMatching MONDO:0000934 laryngeal leiomyoma skos:exactMatch UMLS:C1334370 semapv:UnspecifiedMatching MONDO:0000935 larynx squamous papilloma skos:exactMatch DOID:10071 larynx squamous papilloma semapv:UnspecifiedMatching MONDO:0000935 larynx squamous papilloma skos:exactMatch MEDGEN:116099 semapv:UnspecifiedMatching MONDO:0000935 larynx squamous papilloma skos:exactMatch NCIT:C7742 Laryngeal Squamous Papilloma semapv:UnspecifiedMatching MONDO:0000935 larynx squamous papilloma skos:exactMatch UMLS:C0240164 semapv:UnspecifiedMatching MONDO:0000936 syphilitic meningitis skos:exactMatch DOID:10073 syphilitic meningitis semapv:UnspecifiedMatching MONDO:0000936 syphilitic meningitis skos:exactMatch MEDGEN:57546 semapv:UnspecifiedMatching MONDO:0000936 syphilitic meningitis skos:exactMatch SCTID:301086002 semapv:UnspecifiedMatching MONDO:0000936 syphilitic meningitis skos:exactMatch UMLS:C0153166 semapv:UnspecifiedMatching MONDO:0000936 syphilitic meningitis skos:exactMatch mesh:C536775 semapv:UnspecifiedMatching MONDO:0000937 syphilitic encephalitis skos:exactMatch DOID:10081 syphilitic encephalitis semapv:UnspecifiedMatching MONDO:0000937 syphilitic encephalitis skos:exactMatch MEDGEN:509177 semapv:UnspecifiedMatching MONDO:0000937 syphilitic encephalitis skos:exactMatch SCTID:26135000 semapv:UnspecifiedMatching MONDO:0000937 syphilitic encephalitis skos:exactMatch UMLS:C0153168 semapv:UnspecifiedMatching MONDO:0000938 gastric leiomyoma skos:exactMatch DOID:10087 gastric leiomyoma semapv:UnspecifiedMatching MONDO:0000938 gastric leiomyoma skos:exactMatch MEDGEN:116062 semapv:UnspecifiedMatching MONDO:0000938 gastric leiomyoma skos:exactMatch NCIT:C3876 Gastric Leiomyoma semapv:UnspecifiedMatching MONDO:0000938 gastric leiomyoma skos:exactMatch SCTID:276812001 semapv:UnspecifiedMatching MONDO:0000938 gastric leiomyoma skos:exactMatch UMLS:C0238440 semapv:UnspecifiedMatching MONDO:0000938 gastric leiomyoma skos:exactMatch icd11.foundation:910186285 Leiomyoma of stomach semapv:UnspecifiedMatching MONDO:0000939 intracranial abscess skos:exactMatch DOID:10095 intracranial abscess semapv:UnspecifiedMatching MONDO:0000939 intracranial abscess skos:exactMatch MEDGEN:9529 semapv:UnspecifiedMatching MONDO:0000939 intracranial abscess skos:exactMatch NCIT:C34734 Intracranial Abscess semapv:UnspecifiedMatching MONDO:0000939 intracranial abscess skos:exactMatch SCTID:27614006 semapv:UnspecifiedMatching MONDO:0000939 intracranial abscess skos:exactMatch UMLS:C0021874 semapv:UnspecifiedMatching MONDO:0000939 intracranial abscess skos:exactMatch icd11.foundation:1128677700 Intracranial abscess semapv:UnspecifiedMatching MONDO:0000940 trypanosomiasis skos:exactMatch DOID:10113 trypanosomiasis semapv:UnspecifiedMatching MONDO:0000940 trypanosomiasis skos:exactMatch ICD10CM:B56 African trypanosomiasis semapv:UnspecifiedMatching MONDO:0000940 trypanosomiasis skos:exactMatch MEDGEN:52872 semapv:UnspecifiedMatching MONDO:0000940 trypanosomiasis skos:exactMatch SCTID:78940002 semapv:UnspecifiedMatching MONDO:0000940 trypanosomiasis skos:exactMatch UMLS:C0041227 semapv:UnspecifiedMatching MONDO:0000940 trypanosomiasis skos:exactMatch mesh:D014352 semapv:UnspecifiedMatching MONDO:0000941 eyelid degenerative disorder skos:exactMatch MEDGEN:509851 semapv:UnspecifiedMatching MONDO:0000941 eyelid degenerative disorder skos:exactMatch SCTID:1112003 semapv:UnspecifiedMatching MONDO:0000941 eyelid degenerative disorder skos:exactMatch UMLS:C0155209 semapv:UnspecifiedMatching MONDO:0000942 corneal disorder skos:exactMatch DOID:10124 corneal disease semapv:UnspecifiedMatching MONDO:0000942 corneal disorder skos:exactMatch EFO:0009464 semapv:UnspecifiedMatching MONDO:0000942 corneal disorder skos:exactMatch MEDGEN:3617 semapv:UnspecifiedMatching MONDO:0000942 corneal disorder skos:exactMatch NCIT:C26731 Corneal Disorder semapv:UnspecifiedMatching MONDO:0000942 corneal disorder skos:exactMatch SCTID:15250008 semapv:UnspecifiedMatching MONDO:0000942 corneal disorder skos:exactMatch UMLS:C0010034 semapv:UnspecifiedMatching MONDO:0000942 corneal disorder skos:exactMatch icd11.foundation:980864631 Disorders of the cornea semapv:UnspecifiedMatching MONDO:0000942 corneal disorder skos:exactMatch mesh:D003316 semapv:UnspecifiedMatching MONDO:0000943 acute hydrops keratoconus skos:exactMatch DOID:10125 acute hydrops keratoconus semapv:UnspecifiedMatching MONDO:0000943 acute hydrops keratoconus skos:exactMatch MEDGEN:573067 semapv:UnspecifiedMatching MONDO:0000943 acute hydrops keratoconus skos:exactMatch SCTID:111523009 semapv:UnspecifiedMatching MONDO:0000943 acute hydrops keratoconus skos:exactMatch UMLS:C0339286 semapv:UnspecifiedMatching MONDO:0000944 cerebral artery occlusion skos:exactMatch DOID:10127 cerebral artery occlusion semapv:UnspecifiedMatching MONDO:0000944 cerebral artery occlusion skos:exactMatch MEDGEN:507994 semapv:UnspecifiedMatching MONDO:0000944 cerebral artery occlusion skos:exactMatch SCTID:20059004 semapv:UnspecifiedMatching MONDO:0000944 cerebral artery occlusion skos:exactMatch UMLS:C0028790 semapv:UnspecifiedMatching MONDO:0000945 venous insufficiency skos:exactMatch DOID:10128 venous insufficiency semapv:UnspecifiedMatching MONDO:0000945 venous insufficiency skos:exactMatch MEDGEN:21841 semapv:UnspecifiedMatching MONDO:0000945 venous insufficiency skos:exactMatch SCTID:20696009 semapv:UnspecifiedMatching MONDO:0000945 venous insufficiency skos:exactMatch UMLS:C0042485 semapv:UnspecifiedMatching MONDO:0000945 venous insufficiency skos:exactMatch mesh:D014689 semapv:UnspecifiedMatching MONDO:0000946 psychologic vaginismus skos:exactMatch DOID:10131 psychologic vaginismus semapv:UnspecifiedMatching MONDO:0000946 psychologic vaginismus skos:exactMatch ICD10CM:F52.5 Vaginismus not due to a substance or known physiological condition semapv:UnspecifiedMatching MONDO:0000946 psychologic vaginismus skos:exactMatch MEDGEN:52970 semapv:UnspecifiedMatching MONDO:0000946 psychologic vaginismus skos:exactMatch SCTID:71787009 semapv:UnspecifiedMatching MONDO:0000946 psychologic vaginismus skos:exactMatch UMLS:C0042266 semapv:UnspecifiedMatching MONDO:0000947 psychosexual disorder skos:exactMatch DOID:10132 psychosexual disorder semapv:UnspecifiedMatching MONDO:0000947 psychosexual disorder skos:exactMatch MEDGEN:18747 semapv:UnspecifiedMatching MONDO:0000947 psychosexual disorder skos:exactMatch SCTID:56627002 semapv:UnspecifiedMatching MONDO:0000947 psychosexual disorder skos:exactMatch UMLS:C0033953 semapv:UnspecifiedMatching MONDO:0000948 xerophthalmia skos:exactMatch DOID:10138 xerophthalmia semapv:UnspecifiedMatching MONDO:0000948 xerophthalmia skos:exactMatch MEDGEN:9620 semapv:UnspecifiedMatching MONDO:0000948 xerophthalmia skos:exactMatch NCIT:C34503 Xerophthalmia semapv:UnspecifiedMatching MONDO:0000948 xerophthalmia skos:exactMatch SCTID:363677007 semapv:UnspecifiedMatching MONDO:0000948 xerophthalmia skos:exactMatch UMLS:C0022575 semapv:UnspecifiedMatching MONDO:0000948 xerophthalmia skos:exactMatch mesh:D014985 semapv:UnspecifiedMatching MONDO:0000949 conjunctival degeneration skos:exactMatch DOID:10139 conjunctival degeneration semapv:UnspecifiedMatching MONDO:0000949 conjunctival degeneration skos:exactMatch MEDGEN:509820 semapv:UnspecifiedMatching MONDO:0000949 conjunctival degeneration skos:exactMatch SCTID:40787005 semapv:UnspecifiedMatching MONDO:0000949 conjunctival degeneration skos:exactMatch UMLS:C0155160 semapv:UnspecifiedMatching MONDO:0000949 conjunctival degeneration skos:exactMatch icd11.foundation:763685773 Conjunctival degeneration semapv:UnspecifiedMatching MONDO:0000950 asthenopia skos:exactMatch MEDGEN:2108 semapv:UnspecifiedMatching MONDO:0000950 asthenopia skos:exactMatch UMLS:C0004095 semapv:UnspecifiedMatching MONDO:0000950 asthenopia skos:exactMatch mesh:D001248 semapv:UnspecifiedMatching MONDO:0000951 thymus lymphoma skos:exactMatch DOID:10146 thymus lymphoma semapv:UnspecifiedMatching MONDO:0000951 thymus lymphoma skos:exactMatch EFO:1000054 semapv:UnspecifiedMatching MONDO:0000951 thymus lymphoma skos:exactMatch MEDGEN:277818 semapv:UnspecifiedMatching MONDO:0000951 thymus lymphoma skos:exactMatch NCIT:C6451 Thymus Lymphoma semapv:UnspecifiedMatching MONDO:0000951 thymus lymphoma skos:exactMatch UMLS:C1336745 semapv:UnspecifiedMatching MONDO:0000952 cancer of long bone of lower limb skos:exactMatch DOID:10149 long bones of lower limb cancer semapv:UnspecifiedMatching MONDO:0000952 cancer of long bone of lower limb skos:exactMatch ICD10CM:C40.2 Malignant neoplasm of long bones of lower limb semapv:UnspecifiedMatching MONDO:0000952 cancer of long bone of lower limb skos:exactMatch MEDGEN:757711 semapv:UnspecifiedMatching MONDO:0000952 cancer of long bone of lower limb skos:exactMatch SCTID:449627008 semapv:UnspecifiedMatching MONDO:0000952 cancer of long bone of lower limb skos:exactMatch UMLS:C3265932 semapv:UnspecifiedMatching MONDO:0000953 cancer of short bone of lower limb skos:exactMatch DOID:10151 malignant neoplasm of short bones of lower limb semapv:UnspecifiedMatching MONDO:0000953 cancer of short bone of lower limb skos:exactMatch ICD10CM:C40.3 Malignant neoplasm of short bones of lower limb semapv:UnspecifiedMatching MONDO:0000953 cancer of short bone of lower limb skos:exactMatch MEDGEN:509319 semapv:UnspecifiedMatching MONDO:0000953 cancer of short bone of lower limb skos:exactMatch SCTID:712525007 semapv:UnspecifiedMatching MONDO:0000953 cancer of short bone of lower limb skos:exactMatch UMLS:C0153518 semapv:UnspecifiedMatching MONDO:0000954 Meckel diverticulum cancer skos:exactMatch DOID:10152 Meckel's diverticulum cancer semapv:UnspecifiedMatching MONDO:0000954 Meckel diverticulum cancer skos:exactMatch MEDGEN:509288 semapv:UnspecifiedMatching MONDO:0000954 Meckel diverticulum cancer skos:exactMatch SCTID:187752007 semapv:UnspecifiedMatching MONDO:0000954 Meckel diverticulum cancer skos:exactMatch UMLS:C0153429 semapv:UnspecifiedMatching MONDO:0000955 ileum cancer skos:exactMatch DOID:10153 ileum cancer semapv:UnspecifiedMatching MONDO:0000955 ileum cancer skos:exactMatch ICD10CM:C17.2 Malignant neoplasm of ileum semapv:UnspecifiedMatching MONDO:0000955 ileum cancer skos:exactMatch MEDGEN:83390 semapv:UnspecifiedMatching MONDO:0000955 ileum cancer skos:exactMatch NCIT:C193425 Malignant Ileal Neoplasm semapv:UnspecifiedMatching MONDO:0000955 ileum cancer skos:exactMatch UMLS:C0345836 semapv:UnspecifiedMatching MONDO:0000955 ileum cancer skos:exactMatch icd11.foundation:1257212583 Malignant neoplasm of ileum semapv:UnspecifiedMatching MONDO:0000956 small intestine cancer skos:exactMatch DOID:10154 small intestine cancer semapv:UnspecifiedMatching MONDO:0000956 small intestine cancer skos:exactMatch ICD10CM:C17 Malignant neoplasm of small intestine semapv:UnspecifiedMatching MONDO:0000956 small intestine cancer skos:exactMatch MEDGEN:56300 semapv:UnspecifiedMatching MONDO:0000956 small intestine cancer skos:exactMatch NCIT:C7523 Malignant Small Intestinal Neoplasm semapv:UnspecifiedMatching MONDO:0000956 small intestine cancer skos:exactMatch UMLS:C0153425 semapv:UnspecifiedMatching MONDO:0000956 small intestine cancer skos:exactMatch icd11.foundation:906379260 Malignant neoplasms of small intestine semapv:UnspecifiedMatching MONDO:0000957 lacrimal passage granuloma skos:exactMatch DOID:10174 lacrimal passage granuloma semapv:UnspecifiedMatching MONDO:0000957 lacrimal passage granuloma skos:exactMatch ICD10CM:H04.81 Granuloma of lacrimal passages semapv:UnspecifiedMatching MONDO:0000957 lacrimal passage granuloma skos:exactMatch MEDGEN:509875 semapv:UnspecifiedMatching MONDO:0000957 lacrimal passage granuloma skos:exactMatch SCTID:417563003 semapv:UnspecifiedMatching MONDO:0000957 lacrimal passage granuloma skos:exactMatch UMLS:C0155253 semapv:UnspecifiedMatching MONDO:0000958 neuroretinitis skos:exactMatch DOID:10176 neuroretinitis semapv:UnspecifiedMatching MONDO:0000958 neuroretinitis skos:exactMatch MEDGEN:57826 semapv:UnspecifiedMatching MONDO:0000958 neuroretinitis skos:exactMatch UMLS:C0154874 semapv:UnspecifiedMatching MONDO:0000958 neuroretinitis skos:exactMatch icd11.foundation:418437487 Neuroretinitis semapv:UnspecifiedMatching MONDO:0000959 malignant hypertensive renal disease skos:exactMatch DOID:10177 malignant hypertensive renal disease semapv:UnspecifiedMatching MONDO:0000959 malignant hypertensive renal disease skos:exactMatch MEDGEN:510034 semapv:UnspecifiedMatching MONDO:0000959 malignant hypertensive renal disease skos:exactMatch SCTID:65443008 semapv:UnspecifiedMatching MONDO:0000959 malignant hypertensive renal disease skos:exactMatch UMLS:C0155593 semapv:UnspecifiedMatching MONDO:0000960 diabetic peripheral angiopathy skos:exactMatch DOID:11713 diabetic angiopathy semapv:UnspecifiedMatching MONDO:0000960 diabetic peripheral angiopathy skos:exactMatch EFO:1000896 semapv:UnspecifiedMatching MONDO:0000960 diabetic peripheral angiopathy skos:exactMatch MEDGEN:507633 semapv:UnspecifiedMatching MONDO:0000960 diabetic peripheral angiopathy skos:exactMatch NCIT:C35610 Diabetic Vascular Disorder semapv:UnspecifiedMatching MONDO:0000960 diabetic peripheral angiopathy skos:exactMatch SCTID:127014009 semapv:UnspecifiedMatching MONDO:0000960 diabetic peripheral angiopathy skos:exactMatch UMLS:C0011871 semapv:UnspecifiedMatching MONDO:0000960 diabetic peripheral angiopathy skos:exactMatch mesh:D003925 semapv:UnspecifiedMatching MONDO:0000961 endobronchial lipoma skos:exactMatch DOID:10183 endobronchial lipoma semapv:UnspecifiedMatching MONDO:0000961 endobronchial lipoma skos:exactMatch MEDGEN:208874 semapv:UnspecifiedMatching MONDO:0000961 endobronchial lipoma skos:exactMatch NCIT:C5063 Endobronchial Lipoma semapv:UnspecifiedMatching MONDO:0000961 endobronchial lipoma skos:exactMatch UMLS:C0852937 semapv:UnspecifiedMatching MONDO:0000962 spindle cell lipoma skos:exactMatch DOID:10184 spindle cell lipoma semapv:UnspecifiedMatching MONDO:0000962 spindle cell lipoma skos:exactMatch MEDGEN:83153 semapv:UnspecifiedMatching MONDO:0000962 spindle cell lipoma skos:exactMatch NCIT:C4254 Spindle Cell Lipoma semapv:UnspecifiedMatching MONDO:0000962 spindle cell lipoma skos:exactMatch SCTID:404058008 semapv:UnspecifiedMatching MONDO:0000962 spindle cell lipoma skos:exactMatch UMLS:C0334474 semapv:UnspecifiedMatching MONDO:0000963 esophageal lipoma skos:exactMatch DOID:10187 esophageal lipoma semapv:UnspecifiedMatching MONDO:0000963 esophageal lipoma skos:exactMatch MEDGEN:232162 semapv:UnspecifiedMatching MONDO:0000963 esophageal lipoma skos:exactMatch NCIT:C5701 Esophageal Lipoma semapv:UnspecifiedMatching MONDO:0000963 esophageal lipoma skos:exactMatch UMLS:C1333455 semapv:UnspecifiedMatching MONDO:0000964 skin lipoma skos:exactMatch DOID:10188 skin lipoma semapv:UnspecifiedMatching MONDO:0000964 skin lipoma skos:exactMatch MEDGEN:91128 semapv:UnspecifiedMatching MONDO:0000964 skin lipoma skos:exactMatch NCIT:C4616 Skin Lipoma semapv:UnspecifiedMatching MONDO:0000964 skin lipoma skos:exactMatch SCTID:255187008 semapv:UnspecifiedMatching MONDO:0000964 skin lipoma skos:exactMatch UMLS:C0347394 semapv:UnspecifiedMatching MONDO:0000965 liver lipoma skos:exactMatch DOID:10190 liver lipoma semapv:UnspecifiedMatching MONDO:0000965 liver lipoma skos:exactMatch MEDGEN:232277 semapv:UnspecifiedMatching MONDO:0000965 liver lipoma skos:exactMatch NCIT:C5750 Liver Lipoma semapv:UnspecifiedMatching MONDO:0000965 liver lipoma skos:exactMatch UMLS:C1333970 semapv:UnspecifiedMatching MONDO:0000966 pleomorphic lipoma skos:exactMatch DOID:10192 pleomorphic lipoma semapv:UnspecifiedMatching MONDO:0000966 pleomorphic lipoma skos:exactMatch MEDGEN:60027 semapv:UnspecifiedMatching MONDO:0000966 pleomorphic lipoma skos:exactMatch NCIT:C3703 Pleomorphic Lipoma semapv:UnspecifiedMatching MONDO:0000966 pleomorphic lipoma skos:exactMatch SCTID:404059000 semapv:UnspecifiedMatching MONDO:0000966 pleomorphic lipoma skos:exactMatch UMLS:C0205823 semapv:UnspecifiedMatching MONDO:0000967 conventional lipoma skos:exactMatch DOID:10193 conventional lipoma semapv:UnspecifiedMatching MONDO:0000967 conventional lipoma skos:exactMatch MEDGEN:272486 semapv:UnspecifiedMatching MONDO:0000967 conventional lipoma skos:exactMatch NCIT:C27530 Conventional Lipoma semapv:UnspecifiedMatching MONDO:0000967 conventional lipoma skos:exactMatch UMLS:C1333059 semapv:UnspecifiedMatching MONDO:0000968 kidney lipoma skos:exactMatch DOID:10194 kidney lipoma semapv:UnspecifiedMatching MONDO:0000968 kidney lipoma skos:exactMatch MEDGEN:277588 semapv:UnspecifiedMatching MONDO:0000968 kidney lipoma skos:exactMatch NCIT:C5101 Kidney Lipoma semapv:UnspecifiedMatching MONDO:0000968 kidney lipoma skos:exactMatch UMLS:C1335744 semapv:UnspecifiedMatching MONDO:0000969 pleural lipoma skos:exactMatch DOID:10195 pleural lipoma semapv:UnspecifiedMatching MONDO:0000969 pleural lipoma skos:exactMatch MEDGEN:233862 semapv:UnspecifiedMatching MONDO:0000969 pleural lipoma skos:exactMatch NCIT:C6644 Pleural Lipoma semapv:UnspecifiedMatching MONDO:0000969 pleural lipoma skos:exactMatch SCTID:2460001000004103 semapv:UnspecifiedMatching MONDO:0000969 pleural lipoma skos:exactMatch UMLS:C1335434 semapv:UnspecifiedMatching MONDO:0000970 breast lipoma skos:exactMatch DOID:10199 breast lipoma semapv:UnspecifiedMatching MONDO:0000970 breast lipoma skos:exactMatch MEDGEN:138103 semapv:UnspecifiedMatching MONDO:0000970 breast lipoma skos:exactMatch NCIT:C4647 Breast Lipoma semapv:UnspecifiedMatching MONDO:0000970 breast lipoma skos:exactMatch SCTID:276891009 semapv:UnspecifiedMatching MONDO:0000970 breast lipoma skos:exactMatch UMLS:C0349565 semapv:UnspecifiedMatching MONDO:0000971 chest wall lipoma skos:exactMatch DOID:10200 chest wall lipoma semapv:UnspecifiedMatching MONDO:0000971 chest wall lipoma skos:exactMatch MEDGEN:234118 semapv:UnspecifiedMatching MONDO:0000971 chest wall lipoma skos:exactMatch NCIT:C6719 Chest Wall Lipoma semapv:UnspecifiedMatching MONDO:0000971 chest wall lipoma skos:exactMatch SCTID:448270009 semapv:UnspecifiedMatching MONDO:0000971 chest wall lipoma skos:exactMatch UMLS:C1332932 semapv:UnspecifiedMatching MONDO:0000972 gallbladder lipoma skos:exactMatch DOID:10201 gallbladder lipoma semapv:UnspecifiedMatching MONDO:0000972 gallbladder lipoma skos:exactMatch MEDGEN:272660 semapv:UnspecifiedMatching MONDO:0000972 gallbladder lipoma skos:exactMatch NCIT:C5835 Gallbladder Lipoma semapv:UnspecifiedMatching MONDO:0000972 gallbladder lipoma skos:exactMatch UMLS:C1333747 semapv:UnspecifiedMatching MONDO:0000973 external ear lipoma skos:exactMatch DOID:10203 external ear lipoma semapv:UnspecifiedMatching MONDO:0000973 external ear lipoma skos:exactMatch MEDGEN:91130 semapv:UnspecifiedMatching MONDO:0000973 external ear lipoma skos:exactMatch NCIT:C4618 External Ear Lipoma semapv:UnspecifiedMatching MONDO:0000973 external ear lipoma skos:exactMatch SCTID:188988008 semapv:UnspecifiedMatching MONDO:0000973 external ear lipoma skos:exactMatch UMLS:C0347423 semapv:UnspecifiedMatching MONDO:0000974 axillary lipoma skos:exactMatch DOID:10205 axillary lipoma semapv:UnspecifiedMatching MONDO:0000974 axillary lipoma skos:exactMatch MEDGEN:87575 semapv:UnspecifiedMatching MONDO:0000974 axillary lipoma skos:exactMatch NCIT:C35419 Axillary Lipoma semapv:UnspecifiedMatching MONDO:0000974 axillary lipoma skos:exactMatch SCTID:188993006 semapv:UnspecifiedMatching MONDO:0000974 axillary lipoma skos:exactMatch UMLS:C0347429 semapv:UnspecifiedMatching MONDO:0000975 lipoma of spermatic cord skos:exactMatch DOID:10206 lipoma of spermatic cord semapv:UnspecifiedMatching MONDO:0000975 lipoma of spermatic cord skos:exactMatch MEDGEN:102299 semapv:UnspecifiedMatching MONDO:0000975 lipoma of spermatic cord skos:exactMatch NCIT:C3606 Spermatic Cord Lipoma semapv:UnspecifiedMatching MONDO:0000975 lipoma of spermatic cord skos:exactMatch SCTID:93162007 semapv:UnspecifiedMatching MONDO:0000975 lipoma of spermatic cord skos:exactMatch UMLS:C0153972 semapv:UnspecifiedMatching MONDO:0000976 paratesticular lipoma skos:exactMatch DOID:10207 paratesticular lipoma semapv:UnspecifiedMatching MONDO:0000976 paratesticular lipoma skos:exactMatch MEDGEN:233310 semapv:UnspecifiedMatching MONDO:0000976 paratesticular lipoma skos:exactMatch NCIT:C6384 Paratesticular Lipoma semapv:UnspecifiedMatching MONDO:0000976 paratesticular lipoma skos:exactMatch UMLS:C1335348 semapv:UnspecifiedMatching MONDO:0000977 chondroid lipoma skos:exactMatch DOID:10208 chondroid lipoma semapv:UnspecifiedMatching MONDO:0000977 chondroid lipoma skos:exactMatch MEDGEN:266104 semapv:UnspecifiedMatching MONDO:0000977 chondroid lipoma skos:exactMatch NCIT:C6503 Chondroid Lipoma semapv:UnspecifiedMatching MONDO:0000977 chondroid lipoma skos:exactMatch SCTID:404065000 semapv:UnspecifiedMatching MONDO:0000977 chondroid lipoma skos:exactMatch UMLS:C1266131 semapv:UnspecifiedMatching MONDO:0000978 extrahepatic bile duct lipoma skos:exactMatch DOID:10209 extrahepatic bile duct lipoma semapv:UnspecifiedMatching MONDO:0000978 extrahepatic bile duct lipoma skos:exactMatch MEDGEN:232482 semapv:UnspecifiedMatching MONDO:0000978 extrahepatic bile duct lipoma skos:exactMatch NCIT:C5854 Extrahepatic Bile Duct Lipoma semapv:UnspecifiedMatching MONDO:0000978 extrahepatic bile duct lipoma skos:exactMatch UMLS:C1333509 semapv:UnspecifiedMatching MONDO:0000979 pinta disease skos:exactMatch DOID:1022 pinta disease semapv:UnspecifiedMatching MONDO:0000979 pinta disease skos:exactMatch ICD10CM:A67 Pinta [carate] semapv:UnspecifiedMatching MONDO:0000979 pinta disease skos:exactMatch MEDGEN:45926 semapv:UnspecifiedMatching MONDO:0000979 pinta disease skos:exactMatch NCIT:C85011 Pinta semapv:UnspecifiedMatching MONDO:0000979 pinta disease skos:exactMatch SCTID:22064009 semapv:UnspecifiedMatching MONDO:0000979 pinta disease skos:exactMatch UMLS:C0031946 semapv:UnspecifiedMatching MONDO:0000979 pinta disease skos:exactMatch icd11.foundation:1465035083 Pinta semapv:UnspecifiedMatching MONDO:0000979 pinta disease skos:exactMatch mesh:D010874 semapv:UnspecifiedMatching MONDO:0000980 aortic atherosclerosis skos:exactMatch DOID:10230 aortic atherosclerosis semapv:UnspecifiedMatching MONDO:0000980 aortic atherosclerosis skos:exactMatch ICD10CM:I70.0 Atherosclerosis of aorta semapv:UnspecifiedMatching MONDO:0000980 aortic atherosclerosis skos:exactMatch MEDGEN:510061 semapv:UnspecifiedMatching MONDO:0000980 aortic atherosclerosis skos:exactMatch SCTID:81817003 semapv:UnspecifiedMatching MONDO:0000980 aortic atherosclerosis skos:exactMatch UMLS:C0155733 semapv:UnspecifiedMatching MONDO:0000980 aortic atherosclerosis skos:exactMatch icd11.foundation:1600740300 Atherosclerosis of aorta semapv:UnspecifiedMatching MONDO:0000981 Histoplasma pericarditis skos:exactMatch DOID:10234 histoplasmosis pericarditis semapv:UnspecifiedMatching MONDO:0000981 Histoplasma pericarditis skos:exactMatch MEDGEN:509241 semapv:UnspecifiedMatching MONDO:0000981 Histoplasma pericarditis skos:exactMatch SCTID:187059008 semapv:UnspecifiedMatching MONDO:0000981 Histoplasma pericarditis skos:exactMatch UMLS:C0153279 semapv:UnspecifiedMatching MONDO:0000983 exhibitionism skos:exactMatch DOID:10236 exhibitionism semapv:UnspecifiedMatching MONDO:0000983 exhibitionism skos:exactMatch ICD10CM:F65.2 Exhibitionism semapv:UnspecifiedMatching MONDO:0000983 exhibitionism skos:exactMatch MEDGEN:41913 semapv:UnspecifiedMatching MONDO:0000983 exhibitionism skos:exactMatch NCIT:C94352 Exhibitionism semapv:UnspecifiedMatching MONDO:0000983 exhibitionism skos:exactMatch SCTID:58349009 semapv:UnspecifiedMatching MONDO:0000983 exhibitionism skos:exactMatch UMLS:C0015269 semapv:UnspecifiedMatching MONDO:0000983 exhibitionism skos:exactMatch mesh:D005084 semapv:UnspecifiedMatching MONDO:0000984 thalassemia skos:exactMatch DOID:10241 thalassemia semapv:UnspecifiedMatching MONDO:0000984 thalassemia skos:exactMatch EFO:1001996 semapv:UnspecifiedMatching MONDO:0000984 thalassemia skos:exactMatch ICD10CM:D56 Thalassemia semapv:UnspecifiedMatching MONDO:0000984 thalassemia skos:exactMatch MEDGEN:21121 semapv:UnspecifiedMatching MONDO:0000984 thalassemia skos:exactMatch NCIT:C35069 Thalassemia semapv:UnspecifiedMatching MONDO:0000984 thalassemia skos:exactMatch SCTID:40108008 semapv:UnspecifiedMatching MONDO:0000984 thalassemia skos:exactMatch UMLS:C0039730 semapv:UnspecifiedMatching MONDO:0000984 thalassemia skos:exactMatch mesh:D013789 semapv:UnspecifiedMatching MONDO:0000986 pleurisy skos:exactMatch DOID:10247 pleurisy semapv:UnspecifiedMatching MONDO:0000986 pleurisy skos:exactMatch EFO:1001825 semapv:UnspecifiedMatching MONDO:0000986 pleurisy skos:exactMatch ICD10CM:R09.1 Pleurisy semapv:UnspecifiedMatching MONDO:0000986 pleurisy skos:exactMatch MEDGEN:10807 semapv:UnspecifiedMatching MONDO:0000986 pleurisy skos:exactMatch NCIT:C26860 Pleuritis semapv:UnspecifiedMatching MONDO:0000986 pleurisy skos:exactMatch SCTID:196075003 semapv:UnspecifiedMatching MONDO:0000986 pleurisy skos:exactMatch UMLS:C0032231 semapv:UnspecifiedMatching MONDO:0000986 pleurisy skos:exactMatch icd11.foundation:317852053 Pleurisy semapv:UnspecifiedMatching MONDO:0000986 pleurisy skos:exactMatch mesh:D010998 semapv:UnspecifiedMatching MONDO:0000987 cholesterolosis of gallbladder skos:exactMatch DOID:10254 strawberry gallbladder semapv:UnspecifiedMatching MONDO:0000987 cholesterolosis of gallbladder skos:exactMatch ICD10CM:K82.4 Cholesterolosis of gallbladder semapv:UnspecifiedMatching MONDO:0000987 cholesterolosis of gallbladder skos:exactMatch MEDGEN:509042 semapv:UnspecifiedMatching MONDO:0000987 cholesterolosis of gallbladder skos:exactMatch SCTID:61565001 semapv:UnspecifiedMatching MONDO:0000987 cholesterolosis of gallbladder skos:exactMatch UMLS:C0152456 semapv:UnspecifiedMatching MONDO:0000987 cholesterolosis of gallbladder skos:exactMatch icd11.foundation:2109132211 Cholesterolosis of gallbladder semapv:UnspecifiedMatching MONDO:0000988 discharging ear skos:exactMatch DOID:10261 otorrhea semapv:UnspecifiedMatching MONDO:0000988 discharging ear skos:exactMatch MEDGEN:57608 semapv:UnspecifiedMatching MONDO:0000988 discharging ear skos:exactMatch UMLS:C0155540 semapv:UnspecifiedMatching MONDO:0000989 mumps infectious disease skos:exactMatch DOID:10264 mumps semapv:UnspecifiedMatching MONDO:0000989 mumps infectious disease skos:exactMatch EFO:0007383 semapv:UnspecifiedMatching MONDO:0000989 mumps infectious disease skos:exactMatch ICD10CM:B26 Mumps semapv:UnspecifiedMatching MONDO:0000989 mumps infectious disease skos:exactMatch MEDGEN:44521 semapv:UnspecifiedMatching MONDO:0000989 mumps infectious disease skos:exactMatch NCIT:C29888 Mumps semapv:UnspecifiedMatching MONDO:0000989 mumps infectious disease skos:exactMatch SCTID:36989005 semapv:UnspecifiedMatching MONDO:0000989 mumps infectious disease skos:exactMatch UMLS:C0026780 semapv:UnspecifiedMatching MONDO:0000989 mumps infectious disease skos:exactMatch icd11.foundation:1208294714 Mumps semapv:UnspecifiedMatching MONDO:0000989 mumps infectious disease skos:exactMatch mesh:D009107 semapv:UnspecifiedMatching MONDO:0000989 mumps infectious disease skos:exactMatch mesh:D019351 semapv:UnspecifiedMatching MONDO:0000990 acute subendocardial myocardial infarction skos:exactMatch DOID:10266 subendocardial infarction acute myocardial infarction semapv:UnspecifiedMatching MONDO:0000990 acute subendocardial myocardial infarction skos:exactMatch MEDGEN:538778 semapv:UnspecifiedMatching MONDO:0000990 acute subendocardial myocardial infarction skos:exactMatch SCTID:70422006 semapv:UnspecifiedMatching MONDO:0000990 acute subendocardial myocardial infarction skos:exactMatch UMLS:C0264710 semapv:UnspecifiedMatching MONDO:0000991 obsolete left bundle branch block skos:exactMatch DOID:10272 left bundle branch hemiblock semapv:UnspecifiedMatching MONDO:0000991 obsolete left bundle branch block skos:exactMatch SCTID:4973001 semapv:UnspecifiedMatching MONDO:0000991 obsolete left bundle branch block skos:exactMatch SCTID:63467002 semapv:UnspecifiedMatching MONDO:0000992 heart conduction disease skos:exactMatch DOID:10273 heart conduction disease semapv:UnspecifiedMatching MONDO:0000992 heart conduction disease skos:exactMatch SCTID:44808001 semapv:UnspecifiedMatching MONDO:0000993 prostate squamous cell carcinoma skos:exactMatch DOID:10287 prostate squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0000993 prostate squamous cell carcinoma skos:exactMatch MEDGEN:226996 semapv:UnspecifiedMatching MONDO:0000993 prostate squamous cell carcinoma skos:exactMatch NCIT:C5536 Prostate Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0000993 prostate squamous cell carcinoma skos:exactMatch SCTID:399590005 semapv:UnspecifiedMatching MONDO:0000993 prostate squamous cell carcinoma skos:exactMatch UMLS:C1302530 semapv:UnspecifiedMatching MONDO:0000994 malignant prostate phyllodes tumor skos:exactMatch DOID:10289 prostate malignant phyllodes tumor semapv:UnspecifiedMatching MONDO:0000994 malignant prostate phyllodes tumor skos:exactMatch MEDGEN:235301 semapv:UnspecifiedMatching MONDO:0000994 malignant prostate phyllodes tumor skos:exactMatch NCIT:C5531 Malignant Prostate Phyllodes Tumor semapv:UnspecifiedMatching MONDO:0000994 malignant prostate phyllodes tumor skos:exactMatch UMLS:C1334615 semapv:UnspecifiedMatching MONDO:0000995 familial periodic paralysis skos:exactMatch DOID:1029 familial periodic paralysis semapv:UnspecifiedMatching MONDO:0000995 familial periodic paralysis skos:exactMatch MEDGEN:18291 semapv:UnspecifiedMatching MONDO:0000995 familial periodic paralysis skos:exactMatch NCIT:C84709 Familial Periodic Paralysis semapv:UnspecifiedMatching MONDO:0000995 familial periodic paralysis skos:exactMatch Orphanet:371433 Genetic periodic paralysis semapv:UnspecifiedMatching MONDO:0000995 familial periodic paralysis skos:exactMatch SCTID:267607008 semapv:UnspecifiedMatching MONDO:0000995 familial periodic paralysis skos:exactMatch UMLS:C0030443 semapv:UnspecifiedMatching MONDO:0000995 familial periodic paralysis skos:exactMatch mesh:D010245 semapv:UnspecifiedMatching MONDO:0000996 prostate lymphoma skos:exactMatch DOID:10290 prostate lymphoma semapv:UnspecifiedMatching MONDO:0000996 prostate lymphoma skos:exactMatch MEDGEN:235500 semapv:UnspecifiedMatching MONDO:0000996 prostate lymphoma skos:exactMatch NCIT:C5533 Prostate Lymphoma semapv:UnspecifiedMatching MONDO:0000996 prostate lymphoma skos:exactMatch UMLS:C1335512 semapv:UnspecifiedMatching MONDO:0000997 monocular esotropia skos:exactMatch DOID:10293 monocular esotropia semapv:UnspecifiedMatching MONDO:0000997 monocular esotropia skos:exactMatch ICD10CM:H50.01 Monocular esotropia semapv:UnspecifiedMatching MONDO:0000997 monocular esotropia skos:exactMatch MEDGEN:57514 semapv:UnspecifiedMatching MONDO:0000997 monocular esotropia skos:exactMatch SCTID:5455000 semapv:UnspecifiedMatching MONDO:0000997 monocular esotropia skos:exactMatch UMLS:C0152204 semapv:UnspecifiedMatching MONDO:0000997 monocular esotropia skos:exactMatch icd11.foundation:813817121 Monocular esotropia semapv:UnspecifiedMatching MONDO:0001000 mixed mineral dust pneumoconiosis skos:exactMatch DOID:10319 mixed mineral dust pneumoconiosis semapv:UnspecifiedMatching MONDO:0001000 mixed mineral dust pneumoconiosis skos:exactMatch MEDGEN:137937 semapv:UnspecifiedMatching MONDO:0001000 mixed mineral dust pneumoconiosis skos:exactMatch NCIT:C27559 Mixed Mineral Dust Pneumoconiosis semapv:UnspecifiedMatching MONDO:0001000 mixed mineral dust pneumoconiosis skos:exactMatch SCTID:233759002 semapv:UnspecifiedMatching MONDO:0001000 mixed mineral dust pneumoconiosis skos:exactMatch UMLS:C0340184 semapv:UnspecifiedMatching MONDO:0001001 baritosis skos:exactMatch DOID:10321 baritosis semapv:UnspecifiedMatching MONDO:0001001 baritosis skos:exactMatch MEDGEN:87399 semapv:UnspecifiedMatching MONDO:0001001 baritosis skos:exactMatch NCIT:C34410 Baritosis semapv:UnspecifiedMatching MONDO:0001001 baritosis skos:exactMatch SCTID:50076003 semapv:UnspecifiedMatching MONDO:0001001 baritosis skos:exactMatch UMLS:C0340177 semapv:UnspecifiedMatching MONDO:0001001 baritosis skos:exactMatch mesh:C537080 semapv:UnspecifiedMatching MONDO:0001003 pneumoconiosis due to talc skos:exactMatch DOID:10329 pulmonary talcosis semapv:UnspecifiedMatching MONDO:0001003 pneumoconiosis due to talc skos:exactMatch MEDGEN:65961 semapv:UnspecifiedMatching MONDO:0001003 pneumoconiosis due to talc skos:exactMatch NCIT:C27026 Talc Pneumoconiosis semapv:UnspecifiedMatching MONDO:0001003 pneumoconiosis due to talc skos:exactMatch SCTID:73144008 semapv:UnspecifiedMatching MONDO:0001003 pneumoconiosis due to talc skos:exactMatch UMLS:C0238377 semapv:UnspecifiedMatching MONDO:0001003 pneumoconiosis due to talc skos:exactMatch icd11.foundation:29181140 Pneumoconiosis due to talc dust semapv:UnspecifiedMatching MONDO:0001004 slate pneumoconiosis skos:exactMatch DOID:10330 slate pneumoconiosis semapv:UnspecifiedMatching MONDO:0001004 slate pneumoconiosis skos:exactMatch MEDGEN:83300 semapv:UnspecifiedMatching MONDO:0001004 slate pneumoconiosis skos:exactMatch NCIT:C35397 Slate Pneumoconiosis semapv:UnspecifiedMatching MONDO:0001004 slate pneumoconiosis skos:exactMatch SCTID:1259003 semapv:UnspecifiedMatching MONDO:0001004 slate pneumoconiosis skos:exactMatch UMLS:C0340186 semapv:UnspecifiedMatching MONDO:0001005 kaolin pneumoconiosis skos:exactMatch DOID:10331 kaolin pneumoconiosis semapv:UnspecifiedMatching MONDO:0001005 kaolin pneumoconiosis skos:exactMatch MEDGEN:78108 semapv:UnspecifiedMatching MONDO:0001005 kaolin pneumoconiosis skos:exactMatch NCIT:C35315 Kaolin Pneumoconiosis semapv:UnspecifiedMatching MONDO:0001005 kaolin pneumoconiosis skos:exactMatch SCTID:36696005 semapv:UnspecifiedMatching MONDO:0001005 kaolin pneumoconiosis skos:exactMatch UMLS:C0264435 semapv:UnspecifiedMatching MONDO:0001006 glaucomatous atrophy of optic disk skos:exactMatch DOID:10337 glaucomatous atrophy of optic disc semapv:UnspecifiedMatching MONDO:0001006 glaucomatous atrophy of optic disk skos:exactMatch MEDGEN:543288 semapv:UnspecifiedMatching MONDO:0001006 glaucomatous atrophy of optic disk skos:exactMatch SCTID:1207009 semapv:UnspecifiedMatching MONDO:0001006 glaucomatous atrophy of optic disk skos:exactMatch UMLS:C0271342 semapv:UnspecifiedMatching MONDO:0001007 chronic meningitis skos:exactMatch DOID:10341 chronic meningitis semapv:UnspecifiedMatching MONDO:0001007 chronic meningitis skos:exactMatch ICD10CM:G03.1 Chronic meningitis semapv:UnspecifiedMatching MONDO:0001007 chronic meningitis skos:exactMatch MEDGEN:509621 semapv:UnspecifiedMatching MONDO:0001007 chronic meningitis skos:exactMatch SCTID:21664006 semapv:UnspecifiedMatching MONDO:0001007 chronic meningitis skos:exactMatch UMLS:C0154653 semapv:UnspecifiedMatching MONDO:0001007 chronic meningitis skos:exactMatch icd11.foundation:1597945150 Chronic meningitis semapv:UnspecifiedMatching MONDO:0001008 blepharophimosis skos:exactMatch DOID:10348 blepharophimosis semapv:UnspecifiedMatching MONDO:0001008 blepharophimosis skos:exactMatch ICD10CM:H02.52 Blepharophimosis semapv:UnspecifiedMatching MONDO:0001008 blepharophimosis skos:exactMatch MEDGEN:2670 semapv:UnspecifiedMatching MONDO:0001008 blepharophimosis skos:exactMatch UMLS:C0005744 semapv:UnspecifiedMatching MONDO:0001008 blepharophimosis skos:exactMatch mesh:D016569 semapv:UnspecifiedMatching MONDO:0001009 solitary cyst of breast skos:exactMatch DOID:10349 solitary cyst of breast semapv:UnspecifiedMatching MONDO:0001009 solitary cyst of breast skos:exactMatch ICD10CM:N60.0 Solitary cyst of breast semapv:UnspecifiedMatching MONDO:0001009 solitary cyst of breast skos:exactMatch MEDGEN:20866 semapv:UnspecifiedMatching MONDO:0001009 solitary cyst of breast skos:exactMatch SCTID:266578003 semapv:UnspecifiedMatching MONDO:0001009 solitary cyst of breast skos:exactMatch UMLS:C0037619 semapv:UnspecifiedMatching MONDO:0001011 breast cyst skos:exactMatch DOID:10350 breast cyst semapv:UnspecifiedMatching MONDO:0001011 breast cyst skos:exactMatch MEDGEN:14220 semapv:UnspecifiedMatching MONDO:0001011 breast cyst skos:exactMatch SCTID:399294002 semapv:UnspecifiedMatching MONDO:0001011 breast cyst skos:exactMatch UMLS:C0006144 semapv:UnspecifiedMatching MONDO:0001011 breast cyst skos:exactMatch mesh:D047688 semapv:UnspecifiedMatching MONDO:0001012 obsolete breast fibroadenosis skos:exactMatch DOID:10352 breast fibroadenosis semapv:UnspecifiedMatching MONDO:0001012 obsolete breast fibroadenosis skos:exactMatch ICD10CM:N60.2 Fibroadenosis of breast semapv:UnspecifiedMatching MONDO:0001012 obsolete breast fibroadenosis skos:exactMatch SCTID:23260002 semapv:UnspecifiedMatching MONDO:0001014 chronic leukemia skos:exactMatch DOID:1036 chronic leukemia semapv:UnspecifiedMatching MONDO:0001014 chronic leukemia skos:exactMatch MEDGEN:220905 semapv:UnspecifiedMatching MONDO:0001014 chronic leukemia skos:exactMatch NCIT:C3483 Chronic Leukemia semapv:UnspecifiedMatching MONDO:0001014 chronic leukemia skos:exactMatch SCTID:92812005 semapv:UnspecifiedMatching MONDO:0001014 chronic leukemia skos:exactMatch UMLS:C1279296 semapv:UnspecifiedMatching MONDO:0001015 eosinophilic meningitis skos:exactMatch DOID:10361 eosinophilic meningitis semapv:UnspecifiedMatching MONDO:0001015 eosinophilic meningitis skos:exactMatch MEDGEN:509620 semapv:UnspecifiedMatching MONDO:0001015 eosinophilic meningitis skos:exactMatch NCIT:C128374 Eosinophilic Meningitis semapv:UnspecifiedMatching MONDO:0001015 eosinophilic meningitis skos:exactMatch SCTID:25671008 semapv:UnspecifiedMatching MONDO:0001015 eosinophilic meningitis skos:exactMatch UMLS:C0154652 semapv:UnspecifiedMatching MONDO:0001016 epididymis cancer skos:exactMatch DOID:10366 epididymis cancer semapv:UnspecifiedMatching MONDO:0001016 epididymis cancer skos:exactMatch ICD10CM:C63.0 Malignant neoplasm of epididymis semapv:UnspecifiedMatching MONDO:0001016 epididymis cancer skos:exactMatch MEDGEN:57792 semapv:UnspecifiedMatching MONDO:0001016 epididymis cancer skos:exactMatch NCIT:C3558 Malignant Epididymal Neoplasm semapv:UnspecifiedMatching MONDO:0001016 epididymis cancer skos:exactMatch SCTID:363452003 semapv:UnspecifiedMatching MONDO:0001016 epididymis cancer skos:exactMatch UMLS:C0153602 semapv:UnspecifiedMatching MONDO:0001017 epididymal adenocarcinoma skos:exactMatch DOID:10368 epididymis adenocarcinoma semapv:UnspecifiedMatching MONDO:0001017 epididymal adenocarcinoma skos:exactMatch MEDGEN:307180 semapv:UnspecifiedMatching MONDO:0001017 epididymal adenocarcinoma skos:exactMatch NCIT:C39957 Epididymal Adenocarcinoma semapv:UnspecifiedMatching MONDO:0001017 epididymal adenocarcinoma skos:exactMatch UMLS:C1510784 semapv:UnspecifiedMatching MONDO:0001019 suppression amblyopia skos:exactMatch DOID:10375 strabismic amblyopia semapv:UnspecifiedMatching MONDO:0001019 suppression amblyopia skos:exactMatch ICD10CM:H53.03 Strabismic amblyopia semapv:UnspecifiedMatching MONDO:0001019 suppression amblyopia skos:exactMatch MEDGEN:152911 semapv:UnspecifiedMatching MONDO:0001019 suppression amblyopia skos:exactMatch SCTID:35600002 semapv:UnspecifiedMatching MONDO:0001019 suppression amblyopia skos:exactMatch UMLS:C0750903 semapv:UnspecifiedMatching MONDO:0001020 amblyopia skos:exactMatch DOID:10376 amblyopia semapv:UnspecifiedMatching MONDO:0001020 amblyopia skos:exactMatch MEDGEN:8009 semapv:UnspecifiedMatching MONDO:0001020 amblyopia skos:exactMatch NCIT:C118764 Amblyopia semapv:UnspecifiedMatching MONDO:0001020 amblyopia skos:exactMatch SCTID:387742006 semapv:UnspecifiedMatching MONDO:0001020 amblyopia skos:exactMatch UMLS:C0002418 semapv:UnspecifiedMatching MONDO:0001020 amblyopia skos:exactMatch mesh:D000550 semapv:UnspecifiedMatching MONDO:0001021 ametropic amblyopia skos:exactMatch DOID:10377 refractive amblyopia semapv:UnspecifiedMatching MONDO:0001021 ametropic amblyopia skos:exactMatch ICD10CM:H53.02 Refractive amblyopia semapv:UnspecifiedMatching MONDO:0001021 ametropic amblyopia skos:exactMatch MEDGEN:508919 semapv:UnspecifiedMatching MONDO:0001021 ametropic amblyopia skos:exactMatch SCTID:90927000 semapv:UnspecifiedMatching MONDO:0001021 ametropic amblyopia skos:exactMatch UMLS:C0152190 semapv:UnspecifiedMatching MONDO:0001022 disuse amblyopia skos:exactMatch DOID:10378 deprivation amblyopia semapv:UnspecifiedMatching MONDO:0001022 disuse amblyopia skos:exactMatch ICD10CM:H53.01 Deprivation amblyopia semapv:UnspecifiedMatching MONDO:0001022 disuse amblyopia skos:exactMatch MEDGEN:508918 semapv:UnspecifiedMatching MONDO:0001022 disuse amblyopia skos:exactMatch SCTID:193638002 semapv:UnspecifiedMatching MONDO:0001022 disuse amblyopia skos:exactMatch UMLS:C0152189 semapv:UnspecifiedMatching MONDO:0001022 disuse amblyopia skos:exactMatch icd11.foundation:11516018 Deprivation amblyopia semapv:UnspecifiedMatching MONDO:0001023 prolymphocytic leukemia skos:exactMatch DOID:1039 prolymphocytic leukemia semapv:UnspecifiedMatching MONDO:0001023 prolymphocytic leukemia skos:exactMatch MEDGEN:6062 semapv:UnspecifiedMatching MONDO:0001023 prolymphocytic leukemia skos:exactMatch NCIT:C3181 Prolymphocytic Leukemia semapv:UnspecifiedMatching MONDO:0001023 prolymphocytic leukemia skos:exactMatch SCTID:110006004 semapv:UnspecifiedMatching MONDO:0001023 prolymphocytic leukemia skos:exactMatch UMLS:C0023486 semapv:UnspecifiedMatching MONDO:0001023 prolymphocytic leukemia skos:exactMatch mesh:D015463 semapv:UnspecifiedMatching MONDO:0001024 pneumonic plague skos:exactMatch DOID:10398 pneumonic plague semapv:UnspecifiedMatching MONDO:0001024 pneumonic plague skos:exactMatch ICD10CM:A20.2 Pneumonic plague semapv:UnspecifiedMatching MONDO:0001024 pneumonic plague skos:exactMatch MEDGEN:105580 semapv:UnspecifiedMatching MONDO:0001024 pneumonic plague skos:exactMatch SCTID:35339003 semapv:UnspecifiedMatching MONDO:0001024 pneumonic plague skos:exactMatch UMLS:C0524688 semapv:UnspecifiedMatching MONDO:0001024 pneumonic plague skos:exactMatch icd11.foundation:1983098110 Pneumonic plague semapv:UnspecifiedMatching MONDO:0001025 seminal vesicle chronic gonorrhea skos:exactMatch DOID:10399 seminal vesicle chronic gonorrhea semapv:UnspecifiedMatching MONDO:0001025 seminal vesicle chronic gonorrhea skos:exactMatch MEDGEN:509202 semapv:UnspecifiedMatching MONDO:0001025 seminal vesicle chronic gonorrhea skos:exactMatch SCTID:23975003 semapv:UnspecifiedMatching MONDO:0001025 seminal vesicle chronic gonorrhea skos:exactMatch UMLS:C0153205 semapv:UnspecifiedMatching MONDO:0001025 seminal vesicle chronic gonorrhea skos:exactMatch icd11.foundation:953953221 Chronic gonococcal seminal vesiculitis semapv:UnspecifiedMatching MONDO:0001027 gonococcal seminal vesiculitis skos:exactMatch DOID:10400 gonococcal seminal vesiculitis semapv:UnspecifiedMatching MONDO:0001027 gonococcal seminal vesiculitis skos:exactMatch MEDGEN:662073 semapv:UnspecifiedMatching MONDO:0001027 gonococcal seminal vesiculitis skos:exactMatch SCTID:301990003 semapv:UnspecifiedMatching MONDO:0001027 gonococcal seminal vesiculitis skos:exactMatch UMLS:C0578661 semapv:UnspecifiedMatching MONDO:0001027 gonococcal seminal vesiculitis skos:exactMatch icd11.foundation:1226540022 Gonococcal seminal vesiculitis semapv:UnspecifiedMatching MONDO:0001028 acute pericementitis skos:exactMatch DOID:10423 acute pericementitis semapv:UnspecifiedMatching MONDO:0001028 acute pericementitis skos:exactMatch MEDGEN:1319 semapv:UnspecifiedMatching MONDO:0001028 acute pericementitis skos:exactMatch NCIT:C34354 Acute Periodontitis semapv:UnspecifiedMatching MONDO:0001028 acute pericementitis skos:exactMatch SCTID:21638000 semapv:UnspecifiedMatching MONDO:0001028 acute pericementitis skos:exactMatch UMLS:C0001342 semapv:UnspecifiedMatching MONDO:0001028 acute pericementitis skos:exactMatch icd11.foundation:792986757 Acute periodontitis semapv:UnspecifiedMatching MONDO:0001029 Klippel-Feil syndrome skos:exactMatch DOID:10426 Klippel-Feil syndrome semapv:UnspecifiedMatching MONDO:0001029 Klippel-Feil syndrome skos:exactMatch ICD10CM:Q76.1 Klippel-Feil syndrome semapv:UnspecifiedMatching MONDO:0001029 Klippel-Feil syndrome skos:exactMatch MEDGEN:9645 semapv:UnspecifiedMatching MONDO:0001029 Klippel-Feil syndrome skos:exactMatch NCIT:C98967 Klippel-Feil Syndrome semapv:UnspecifiedMatching MONDO:0001029 Klippel-Feil syndrome skos:exactMatch OMIMPS:118100 Klippel-Feil syndrome semapv:UnspecifiedMatching MONDO:0001029 Klippel-Feil syndrome skos:exactMatch Orphanet:2345 Isolated Klippel-Feil syndrome semapv:UnspecifiedMatching MONDO:0001029 Klippel-Feil syndrome skos:exactMatch SCTID:5601008 semapv:UnspecifiedMatching MONDO:0001029 Klippel-Feil syndrome skos:exactMatch UMLS:C0022738 semapv:UnspecifiedMatching MONDO:0001029 Klippel-Feil syndrome skos:exactMatch icd11.foundation:2139186992 Klippel-Feil anomaly semapv:UnspecifiedMatching MONDO:0001029 Klippel-Feil syndrome skos:exactMatch mesh:D007714 semapv:UnspecifiedMatching MONDO:0001030 keratoconus, stable condition skos:exactMatch DOID:10428 stable condition keratoconus semapv:UnspecifiedMatching MONDO:0001030 keratoconus, stable condition skos:exactMatch MEDGEN:509801 semapv:UnspecifiedMatching MONDO:0001030 keratoconus, stable condition skos:exactMatch SCTID:193844000 semapv:UnspecifiedMatching MONDO:0001030 keratoconus, stable condition skos:exactMatch UMLS:C0155131 semapv:UnspecifiedMatching MONDO:0001031 purulent acute otitis media skos:exactMatch DOID:10435 purulent acute otitis media semapv:UnspecifiedMatching MONDO:0001031 purulent acute otitis media skos:exactMatch ICD10CM:H66.0 Acute suppurative otitis media semapv:UnspecifiedMatching MONDO:0001031 purulent acute otitis media skos:exactMatch MEDGEN:543338 semapv:UnspecifiedMatching MONDO:0001031 purulent acute otitis media skos:exactMatch SCTID:194281003 semapv:UnspecifiedMatching MONDO:0001031 purulent acute otitis media skos:exactMatch UMLS:C0271431 semapv:UnspecifiedMatching MONDO:0001031 purulent acute otitis media skos:exactMatch icd11.foundation:214476774 Acute suppurative otitis media semapv:UnspecifiedMatching MONDO:0001032 Mooren ulcer skos:exactMatch DOID:10439 Mooren's ulcer semapv:UnspecifiedMatching MONDO:0001032 Mooren ulcer skos:exactMatch MEDGEN:509770 semapv:UnspecifiedMatching MONDO:0001032 Mooren ulcer skos:exactMatch Orphanet:519408 Mooren ulcer semapv:UnspecifiedMatching MONDO:0001032 Mooren ulcer skos:exactMatch SCTID:22440001 semapv:UnspecifiedMatching MONDO:0001032 Mooren ulcer skos:exactMatch UMLS:C0155072 semapv:UnspecifiedMatching MONDO:0001032 Mooren ulcer skos:exactMatch icd11.foundation:470174149 Mooren's corneal ulcer semapv:UnspecifiedMatching MONDO:0001033 mycotic corneal ulcer skos:exactMatch DOID:10440 mycotic corneal ulcer semapv:UnspecifiedMatching MONDO:0001033 mycotic corneal ulcer skos:exactMatch ICD10CM:H16.06 Mycotic corneal ulcer semapv:UnspecifiedMatching MONDO:0001033 mycotic corneal ulcer skos:exactMatch MEDGEN:509769 semapv:UnspecifiedMatching MONDO:0001033 mycotic corneal ulcer skos:exactMatch SCTID:397977001 semapv:UnspecifiedMatching MONDO:0001033 mycotic corneal ulcer skos:exactMatch UMLS:C0155071 semapv:UnspecifiedMatching MONDO:0001033 mycotic corneal ulcer skos:exactMatch icd11.foundation:1756043578 Mycotic corneal ulcer semapv:UnspecifiedMatching MONDO:0001034 marginal corneal ulcer skos:exactMatch DOID:10441 marginal corneal ulcer semapv:UnspecifiedMatching MONDO:0001034 marginal corneal ulcer skos:exactMatch ICD10CM:H16.04 Marginal corneal ulcer semapv:UnspecifiedMatching MONDO:0001034 marginal corneal ulcer skos:exactMatch MEDGEN:509765 semapv:UnspecifiedMatching MONDO:0001034 marginal corneal ulcer skos:exactMatch SCTID:47398006 semapv:UnspecifiedMatching MONDO:0001034 marginal corneal ulcer skos:exactMatch UMLS:C0155067 semapv:UnspecifiedMatching MONDO:0001034 marginal corneal ulcer skos:exactMatch icd11.foundation:2035123281 Marginal corneal ulcer semapv:UnspecifiedMatching MONDO:0001035 hypopyon ulcer skos:exactMatch DOID:10442 hypopyon ulcer semapv:UnspecifiedMatching MONDO:0001035 hypopyon ulcer skos:exactMatch MEDGEN:509768 semapv:UnspecifiedMatching MONDO:0001035 hypopyon ulcer skos:exactMatch SCTID:6395007 semapv:UnspecifiedMatching MONDO:0001035 hypopyon ulcer skos:exactMatch UMLS:C0155070 semapv:UnspecifiedMatching MONDO:0001035 hypopyon ulcer skos:exactMatch icd11.foundation:178460613 Corneal ulcer with hypopyon semapv:UnspecifiedMatching MONDO:0001036 hypopyon skos:exactMatch DOID:10443 hypopyon semapv:UnspecifiedMatching MONDO:0001036 hypopyon skos:exactMatch ICD10CM:H20.05 Hypopyon semapv:UnspecifiedMatching MONDO:0001036 hypopyon skos:exactMatch MEDGEN:43802 semapv:UnspecifiedMatching MONDO:0001036 hypopyon skos:exactMatch NCIT:C50593 Hypopyon semapv:UnspecifiedMatching MONDO:0001036 hypopyon skos:exactMatch SCTID:87807004 semapv:UnspecifiedMatching MONDO:0001036 hypopyon skos:exactMatch UMLS:C0020641 semapv:UnspecifiedMatching MONDO:0001036 hypopyon skos:exactMatch icd11.foundation:803985395 Hypopyon semapv:UnspecifiedMatching MONDO:0001037 ring corneal ulcer skos:exactMatch DOID:10444 ring corneal ulcer semapv:UnspecifiedMatching MONDO:0001037 ring corneal ulcer skos:exactMatch ICD10CM:H16.02 Ring corneal ulcer semapv:UnspecifiedMatching MONDO:0001037 ring corneal ulcer skos:exactMatch MEDGEN:509766 semapv:UnspecifiedMatching MONDO:0001037 ring corneal ulcer skos:exactMatch SCTID:111520007 semapv:UnspecifiedMatching MONDO:0001037 ring corneal ulcer skos:exactMatch UMLS:C0155068 semapv:UnspecifiedMatching MONDO:0001037 ring corneal ulcer skos:exactMatch icd11.foundation:1877531217 Ring corneal ulcer semapv:UnspecifiedMatching MONDO:0001038 perforated corneal ulcer skos:exactMatch DOID:10445 perforated corneal ulcer semapv:UnspecifiedMatching MONDO:0001038 perforated corneal ulcer skos:exactMatch ICD10CM:H16.07 Perforated corneal ulcer semapv:UnspecifiedMatching MONDO:0001038 perforated corneal ulcer skos:exactMatch MEDGEN:508831 semapv:UnspecifiedMatching MONDO:0001038 perforated corneal ulcer skos:exactMatch SCTID:46606001 semapv:UnspecifiedMatching MONDO:0001038 perforated corneal ulcer skos:exactMatch UMLS:C0151844 semapv:UnspecifiedMatching MONDO:0001038 perforated corneal ulcer skos:exactMatch icd11.foundation:232838320 Perforated corneal ulcer semapv:UnspecifiedMatching MONDO:0001039 tonsillitis skos:exactMatch DOID:10456 tonsillitis semapv:UnspecifiedMatching MONDO:0001039 tonsillitis skos:exactMatch ICD10CM:J35.01 Chronic tonsillitis semapv:UnspecifiedMatching MONDO:0001039 tonsillitis skos:exactMatch MEDGEN:1781351 semapv:UnspecifiedMatching MONDO:0001039 tonsillitis skos:exactMatch NCIT:C116006 Tonsillitis semapv:UnspecifiedMatching MONDO:0001039 tonsillitis skos:exactMatch SCTID:90979004 semapv:UnspecifiedMatching MONDO:0001039 tonsillitis skos:exactMatch UMLS:C0740402 semapv:UnspecifiedMatching MONDO:0001039 tonsillitis skos:exactMatch mesh:D014069 semapv:UnspecifiedMatching MONDO:0001040 nasopharyngitis skos:exactMatch DOID:10460 nasopharyngitis semapv:UnspecifiedMatching MONDO:0001040 nasopharyngitis skos:exactMatch MEDGEN:6527 semapv:UnspecifiedMatching MONDO:0001040 nasopharyngitis skos:exactMatch NCIT:C34837 Nasopharyngitis semapv:UnspecifiedMatching MONDO:0001040 nasopharyngitis skos:exactMatch SCTID:47841006 semapv:UnspecifiedMatching MONDO:0001040 nasopharyngitis skos:exactMatch UMLS:C0027441 semapv:UnspecifiedMatching MONDO:0001040 nasopharyngitis skos:exactMatch mesh:D009304 semapv:UnspecifiedMatching MONDO:0001041 dentin caries skos:exactMatch DOID:10461 dentin caries semapv:UnspecifiedMatching MONDO:0001041 dentin caries skos:exactMatch MEDGEN:540210 semapv:UnspecifiedMatching MONDO:0001041 dentin caries skos:exactMatch SCTID:442551007 semapv:UnspecifiedMatching MONDO:0001041 dentin caries skos:exactMatch UMLS:C0266846 semapv:UnspecifiedMatching MONDO:0001041 dentin caries skos:exactMatch icd11.foundation:1620059450 Caries of dentine semapv:UnspecifiedMatching MONDO:0001042 patellar tendinitis skos:exactMatch DOID:10471 patellar tendinitis semapv:UnspecifiedMatching MONDO:0001042 patellar tendinitis skos:exactMatch ICD10CM:M76.5 Patellar tendinitis semapv:UnspecifiedMatching MONDO:0001042 patellar tendinitis skos:exactMatch MEDGEN:510513 semapv:UnspecifiedMatching MONDO:0001042 patellar tendinitis skos:exactMatch SCTID:37785001 semapv:UnspecifiedMatching MONDO:0001042 patellar tendinitis skos:exactMatch UMLS:C0158317 semapv:UnspecifiedMatching MONDO:0001042 patellar tendinitis skos:exactMatch icd11.foundation:1366847963 Patellar tendinitis semapv:UnspecifiedMatching MONDO:0001044 esophageal atresia skos:exactMatch DOID:10485 esophageal atresia semapv:UnspecifiedMatching MONDO:0001044 esophageal atresia skos:exactMatch MEDGEN:4545 semapv:UnspecifiedMatching MONDO:0001044 esophageal atresia skos:exactMatch NCIT:C87072 Esophageal Atresia semapv:UnspecifiedMatching MONDO:0001044 esophageal atresia skos:exactMatch SCTID:26179002 semapv:UnspecifiedMatching MONDO:0001044 esophageal atresia skos:exactMatch UMLS:C0014850 semapv:UnspecifiedMatching MONDO:0001044 esophageal atresia skos:exactMatch mesh:D004933 semapv:UnspecifiedMatching MONDO:0001045 intestinal atresia skos:exactMatch DOID:10486 intestinal atresia semapv:UnspecifiedMatching MONDO:0001045 intestinal atresia skos:exactMatch MEDGEN:7129 semapv:UnspecifiedMatching MONDO:0001045 intestinal atresia skos:exactMatch NCIT:C84790 Intestinal Atresia semapv:UnspecifiedMatching MONDO:0001045 intestinal atresia skos:exactMatch UMLS:C0021828 semapv:UnspecifiedMatching MONDO:0001045 intestinal atresia skos:exactMatch mesh:D007409 semapv:UnspecifiedMatching MONDO:0001046 imperforate anus skos:exactMatch DOID:10488 imperforate anus semapv:UnspecifiedMatching MONDO:0001046 imperforate anus skos:exactMatch ICD10CM:Q42.3 Congenital absence, atresia and stenosis of anus without fistula semapv:UnspecifiedMatching MONDO:0001046 imperforate anus skos:exactMatch MEDGEN:1997 semapv:UnspecifiedMatching MONDO:0001046 imperforate anus skos:exactMatch NCIT:C84784 Imperforate Anus semapv:UnspecifiedMatching MONDO:0001046 imperforate anus skos:exactMatch OMIM:207500 anus, imperforate semapv:UnspecifiedMatching MONDO:0001046 imperforate anus skos:exactMatch OMIM:301800 anus, imperforate, X-linked semapv:UnspecifiedMatching MONDO:0001046 imperforate anus skos:exactMatch SCTID:204731006 semapv:UnspecifiedMatching MONDO:0001046 imperforate anus skos:exactMatch UMLS:C0003466 semapv:UnspecifiedMatching MONDO:0001046 imperforate anus skos:exactMatch icd11.foundation:290678165 Congenital atresia of anus semapv:UnspecifiedMatching MONDO:0001046 imperforate anus skos:exactMatch icd11.foundation:515168801 Imperforate anus semapv:UnspecifiedMatching MONDO:0001046 imperforate anus skos:exactMatch mesh:D001006 semapv:UnspecifiedMatching MONDO:0001048 orbital granuloma skos:exactMatch DOID:10499 orbital granuloma semapv:UnspecifiedMatching MONDO:0001048 orbital granuloma skos:exactMatch MEDGEN:102330 semapv:UnspecifiedMatching MONDO:0001048 orbital granuloma skos:exactMatch SCTID:72776003 semapv:UnspecifiedMatching MONDO:0001048 orbital granuloma skos:exactMatch UMLS:C0155262 semapv:UnspecifiedMatching MONDO:0001049 Dressler syndrome skos:exactMatch DOID:10507 Dressler's syndrome semapv:UnspecifiedMatching MONDO:0001049 Dressler syndrome skos:exactMatch ICD10CM:I24.1 Dressler's syndrome semapv:UnspecifiedMatching MONDO:0001049 Dressler syndrome skos:exactMatch MEDGEN:508890 semapv:UnspecifiedMatching MONDO:0001049 Dressler syndrome skos:exactMatch SCTID:66189004 semapv:UnspecifiedMatching MONDO:0001049 Dressler syndrome skos:exactMatch UMLS:C0152107 semapv:UnspecifiedMatching MONDO:0001049 Dressler syndrome skos:exactMatch icd11.foundation:1353640147 Dressler syndrome semapv:UnspecifiedMatching MONDO:0001050 malignant otitis externa skos:exactMatch DOID:10516 malignant otitis externa semapv:UnspecifiedMatching MONDO:0001050 malignant otitis externa skos:exactMatch ICD10CM:H60.2 Malignant otitis externa semapv:UnspecifiedMatching MONDO:0001050 malignant otitis externa skos:exactMatch MEDGEN:509950 semapv:UnspecifiedMatching MONDO:0001050 malignant otitis externa skos:exactMatch SCTID:94146005 semapv:UnspecifiedMatching MONDO:0001050 malignant otitis externa skos:exactMatch UMLS:C0155395 semapv:UnspecifiedMatching MONDO:0001050 malignant otitis externa skos:exactMatch icd11.foundation:984580942 Malignant otitis externa semapv:UnspecifiedMatching MONDO:0001051 acute otitis externa skos:exactMatch DOID:10518 beach ear semapv:UnspecifiedMatching MONDO:0001051 acute otitis externa skos:exactMatch MEDGEN:508459 semapv:UnspecifiedMatching MONDO:0001051 acute otitis externa skos:exactMatch SCTID:30250000 semapv:UnspecifiedMatching MONDO:0001051 acute otitis externa skos:exactMatch UMLS:C0149948 semapv:UnspecifiedMatching MONDO:0001052 chronic fungal otitis externa skos:exactMatch DOID:10519 chronic fungal otitis externa semapv:UnspecifiedMatching MONDO:0001052 chronic fungal otitis externa skos:exactMatch MEDGEN:509951 semapv:UnspecifiedMatching MONDO:0001052 chronic fungal otitis externa skos:exactMatch SCTID:111898002 semapv:UnspecifiedMatching MONDO:0001052 chronic fungal otitis externa skos:exactMatch UMLS:C0155396 semapv:UnspecifiedMatching MONDO:0001053 acute infection of pinna skos:exactMatch DOID:10520 acute infection of pinna semapv:UnspecifiedMatching MONDO:0001053 acute infection of pinna skos:exactMatch MEDGEN:509948 semapv:UnspecifiedMatching MONDO:0001053 acute infection of pinna skos:exactMatch SCTID:56663002 semapv:UnspecifiedMatching MONDO:0001053 acute infection of pinna skos:exactMatch UMLS:C0155392 semapv:UnspecifiedMatching MONDO:0001054 double pterygium skos:exactMatch DOID:10525 double pterygium semapv:UnspecifiedMatching MONDO:0001054 double pterygium skos:exactMatch MEDGEN:509817 semapv:UnspecifiedMatching MONDO:0001054 double pterygium skos:exactMatch SCTID:41564009 semapv:UnspecifiedMatching MONDO:0001054 double pterygium skos:exactMatch UMLS:C0155157 semapv:UnspecifiedMatching MONDO:0001055 conjunctival pterygium skos:exactMatch DOID:10526 conjunctival pterygium semapv:UnspecifiedMatching MONDO:0001055 conjunctival pterygium skos:exactMatch MEDGEN:1625284 semapv:UnspecifiedMatching MONDO:0001055 conjunctival pterygium skos:exactMatch UMLS:C4520843 semapv:UnspecifiedMatching MONDO:0001056 gastric cancer skos:exactMatch DOID:10534 stomach cancer semapv:UnspecifiedMatching MONDO:0001056 gastric cancer skos:exactMatch ICD10CM:C16 Malignant neoplasm of stomach semapv:UnspecifiedMatching MONDO:0001056 gastric cancer skos:exactMatch MEDGEN:44264 semapv:UnspecifiedMatching MONDO:0001056 gastric cancer skos:exactMatch NCIT:C9331 Malignant Gastric Neoplasm semapv:UnspecifiedMatching MONDO:0001056 gastric cancer skos:exactMatch OMIM:613659 gastric cancer semapv:UnspecifiedMatching MONDO:0001056 gastric cancer skos:exactMatch UMLS:C0024623 semapv:UnspecifiedMatching MONDO:0001056 gastric cancer skos:exactMatch icd11.foundation:1397617262 Malignant neoplasms of stomach semapv:UnspecifiedMatching MONDO:0001057 malignant gastric granular cell tumor skos:exactMatch DOID:10536 malignant gastric granular cell tumor semapv:UnspecifiedMatching MONDO:0001057 malignant gastric granular cell tumor skos:exactMatch MEDGEN:233664 semapv:UnspecifiedMatching MONDO:0001057 malignant gastric granular cell tumor skos:exactMatch NCIT:C5484 Malignant Gastric Granular Cell Tumor semapv:UnspecifiedMatching MONDO:0001057 malignant gastric granular cell tumor skos:exactMatch UMLS:C1334585 semapv:UnspecifiedMatching MONDO:0001059 gastric lymphoma skos:exactMatch DOID:10540 gastric lymphoma semapv:UnspecifiedMatching MONDO:0001059 gastric lymphoma skos:exactMatch MEDGEN:87603 semapv:UnspecifiedMatching MONDO:0001059 gastric lymphoma skos:exactMatch NCIT:C4636 Gastric Lymphoma semapv:UnspecifiedMatching MONDO:0001059 gastric lymphoma skos:exactMatch SCTID:276811008 semapv:UnspecifiedMatching MONDO:0001059 gastric lymphoma skos:exactMatch UMLS:C0349532 semapv:UnspecifiedMatching MONDO:0001060 microinvasive gastric cancer skos:exactMatch DOID:10541 microinvasive gastric cancer semapv:UnspecifiedMatching MONDO:0001060 microinvasive gastric cancer skos:exactMatch MEDGEN:138098 semapv:UnspecifiedMatching MONDO:0001060 microinvasive gastric cancer skos:exactMatch NCIT:C27131 Early Gastric Cancer semapv:UnspecifiedMatching MONDO:0001060 microinvasive gastric cancer skos:exactMatch SCTID:276809004 semapv:UnspecifiedMatching MONDO:0001060 microinvasive gastric cancer skos:exactMatch UMLS:C0349530 semapv:UnspecifiedMatching MONDO:0001061 pylorus cancer skos:exactMatch DOID:10544 pylorus cancer semapv:UnspecifiedMatching MONDO:0001061 pylorus cancer skos:exactMatch ICD10CM:C16.4 Malignant neoplasm of pylorus semapv:UnspecifiedMatching MONDO:0001061 pylorus cancer skos:exactMatch MEDGEN:509281 semapv:UnspecifiedMatching MONDO:0001061 pylorus cancer skos:exactMatch NCIT:C188051 Malignant Pylorus Neoplasm semapv:UnspecifiedMatching MONDO:0001061 pylorus cancer skos:exactMatch SCTID:187736009 semapv:UnspecifiedMatching MONDO:0001061 pylorus cancer skos:exactMatch UMLS:C0153418 semapv:UnspecifiedMatching MONDO:0001061 pylorus cancer skos:exactMatch icd11.foundation:1085414438 Malignant neoplasm of pylorus semapv:UnspecifiedMatching MONDO:0001062 pyloric antrum cancer skos:exactMatch DOID:10547 pyloric antrum cancer semapv:UnspecifiedMatching MONDO:0001062 pyloric antrum cancer skos:exactMatch ICD10CM:C16.3 Malignant neoplasm of pyloric antrum semapv:UnspecifiedMatching MONDO:0001062 pyloric antrum cancer skos:exactMatch MEDGEN:509282 semapv:UnspecifiedMatching MONDO:0001062 pyloric antrum cancer skos:exactMatch SCTID:187740000 semapv:UnspecifiedMatching MONDO:0001062 pyloric antrum cancer skos:exactMatch UMLS:C0153419 semapv:UnspecifiedMatching MONDO:0001063 cardia cancer skos:exactMatch DOID:10548 cardia cancer semapv:UnspecifiedMatching MONDO:0001063 cardia cancer skos:exactMatch MEDGEN:509280 semapv:UnspecifiedMatching MONDO:0001063 cardia cancer skos:exactMatch SCTID:187732006 semapv:UnspecifiedMatching MONDO:0001063 cardia cancer skos:exactMatch UMLS:C0153417 semapv:UnspecifiedMatching MONDO:0001064 acute eustachian salpingitis skos:exactMatch DOID:10550 acute eustachian salpingitis semapv:UnspecifiedMatching MONDO:0001064 acute eustachian salpingitis skos:exactMatch ICD10CM:H68.01 Acute Eustachian salpingitis semapv:UnspecifiedMatching MONDO:0001064 acute eustachian salpingitis skos:exactMatch MEDGEN:509961 semapv:UnspecifiedMatching MONDO:0001064 acute eustachian salpingitis skos:exactMatch SCTID:194268005 semapv:UnspecifiedMatching MONDO:0001064 acute eustachian salpingitis skos:exactMatch UMLS:C0155429 semapv:UnspecifiedMatching MONDO:0001065 supine hypotensive syndrome skos:exactMatch DOID:10556 supine hypotensive syndrome semapv:UnspecifiedMatching MONDO:0001065 supine hypotensive syndrome skos:exactMatch ICD10CM:O26.5 Maternal hypotension syndrome semapv:UnspecifiedMatching MONDO:0001065 supine hypotensive syndrome skos:exactMatch MEDGEN:574749 semapv:UnspecifiedMatching MONDO:0001065 supine hypotensive syndrome skos:exactMatch SCTID:88887003 semapv:UnspecifiedMatching MONDO:0001065 supine hypotensive syndrome skos:exactMatch UMLS:C0341966 semapv:UnspecifiedMatching MONDO:0001066 late yaws skos:exactMatch DOID:10567 late yaws semapv:UnspecifiedMatching MONDO:0001066 late yaws skos:exactMatch ICD10CM:A66.4 Gummata and ulcers of yaws semapv:UnspecifiedMatching MONDO:0001066 late yaws skos:exactMatch MEDGEN:276026 semapv:UnspecifiedMatching MONDO:0001066 late yaws skos:exactMatch NCIT:C41354 Late Yaws semapv:UnspecifiedMatching MONDO:0001066 late yaws skos:exactMatch SCTID:186968004 semapv:UnspecifiedMatching MONDO:0001066 late yaws skos:exactMatch UMLS:C1517744 semapv:UnspecifiedMatching MONDO:0001067 early yaws skos:exactMatch DOID:10568 early yaws semapv:UnspecifiedMatching MONDO:0001067 early yaws skos:exactMatch MEDGEN:124440 semapv:UnspecifiedMatching MONDO:0001067 early yaws skos:exactMatch NCIT:C41352 Early Yaws semapv:UnspecifiedMatching MONDO:0001067 early yaws skos:exactMatch SCTID:23191004 semapv:UnspecifiedMatching MONDO:0001067 early yaws skos:exactMatch UMLS:C0275998 semapv:UnspecifiedMatching MONDO:0001068 osteomalacia skos:exactMatch DOID:10573 osteomalacia semapv:UnspecifiedMatching MONDO:0001068 osteomalacia skos:exactMatch MEDGEN:14533 semapv:UnspecifiedMatching MONDO:0001068 osteomalacia skos:exactMatch NCIT:C26838 Osteomalacia semapv:UnspecifiedMatching MONDO:0001068 osteomalacia skos:exactMatch SCTID:4598005 semapv:UnspecifiedMatching MONDO:0001068 osteomalacia skos:exactMatch UMLS:C0029442 semapv:UnspecifiedMatching MONDO:0001068 osteomalacia skos:exactMatch mesh:D010018 semapv:UnspecifiedMatching MONDO:0001071 intellectual disability skos:exactMatch DOID:1059 intellectual disability semapv:UnspecifiedMatching MONDO:0001071 intellectual disability skos:exactMatch ICD10CM:F70-F79 Intellectual Disabilities (F70-F79) semapv:UnspecifiedMatching MONDO:0001071 intellectual disability skos:exactMatch MEDGEN:811461 semapv:UnspecifiedMatching MONDO:0001071 intellectual disability skos:exactMatch NCIT:C97250 Intellectual Disability semapv:UnspecifiedMatching MONDO:0001071 intellectual disability skos:exactMatch SCTID:91138005 semapv:UnspecifiedMatching MONDO:0001071 intellectual disability skos:exactMatch UMLS:C3714756 semapv:UnspecifiedMatching MONDO:0001071 intellectual disability skos:exactMatch icd11.foundation:605267007 Disorders of intellectual development semapv:UnspecifiedMatching MONDO:0001071 intellectual disability skos:exactMatch mesh:D008607 semapv:UnspecifiedMatching MONDO:0001072 mild pre-eclampsia skos:exactMatch DOID:10590 mild pre-eclampsia semapv:UnspecifiedMatching MONDO:0001072 mild pre-eclampsia skos:exactMatch MEDGEN:542203 semapv:UnspecifiedMatching MONDO:0001072 mild pre-eclampsia skos:exactMatch SCTID:41114007 semapv:UnspecifiedMatching MONDO:0001072 mild pre-eclampsia skos:exactMatch UMLS:C0269658 semapv:UnspecifiedMatching MONDO:0001072 mild pre-eclampsia skos:exactMatch icd11.foundation:690705840 Mild pre-eclampsia semapv:UnspecifiedMatching MONDO:0001073 idiopathic progressive polyneuropathy skos:exactMatch DOID:10593 idiopathic progressive polyneuropathy semapv:UnspecifiedMatching MONDO:0001073 idiopathic progressive polyneuropathy skos:exactMatch MEDGEN:509646 semapv:UnspecifiedMatching MONDO:0001073 idiopathic progressive polyneuropathy skos:exactMatch SCTID:33209009 semapv:UnspecifiedMatching MONDO:0001073 idiopathic progressive polyneuropathy skos:exactMatch UMLS:C0154756 semapv:UnspecifiedMatching MONDO:0001074 chronic tic disorder skos:exactMatch DOID:10600 chronic tic disorder semapv:UnspecifiedMatching MONDO:0001074 chronic tic disorder skos:exactMatch ICD10CM:F95.1 Chronic motor or vocal tic disorder semapv:UnspecifiedMatching MONDO:0001074 chronic tic disorder skos:exactMatch MEDGEN:40301 semapv:UnspecifiedMatching MONDO:0001074 chronic tic disorder skos:exactMatch NCIT:C116768 Chronic Tic Disorder semapv:UnspecifiedMatching MONDO:0001074 chronic tic disorder skos:exactMatch UMLS:C0008701 semapv:UnspecifiedMatching MONDO:0001075 steatorrhea skos:exactMatch MEDGEN:20948 semapv:UnspecifiedMatching MONDO:0001075 steatorrhea skos:exactMatch NCIT:C86917 Steatorrhea semapv:UnspecifiedMatching MONDO:0001075 steatorrhea skos:exactMatch SCTID:27868004 semapv:UnspecifiedMatching MONDO:0001075 steatorrhea skos:exactMatch UMLS:C0038238 semapv:UnspecifiedMatching MONDO:0001075 steatorrhea skos:exactMatch icd11.foundation:1611008596 Fat in stool semapv:UnspecifiedMatching MONDO:0001075 steatorrhea skos:exactMatch mesh:D045602 semapv:UnspecifiedMatching MONDO:0001076 glucose intolerance skos:exactMatch DOID:10603 glucose intolerance semapv:UnspecifiedMatching MONDO:0001076 glucose intolerance skos:exactMatch MEDGEN:75760 semapv:UnspecifiedMatching MONDO:0001076 glucose intolerance skos:exactMatch NCIT:C34646 Glucose Intolerance semapv:UnspecifiedMatching MONDO:0001076 glucose intolerance skos:exactMatch SCTID:267426009 semapv:UnspecifiedMatching MONDO:0001076 glucose intolerance skos:exactMatch UMLS:C0271650 semapv:UnspecifiedMatching MONDO:0001076 glucose intolerance skos:exactMatch icd11.foundation:1392580302 Glucose intolerance semapv:UnspecifiedMatching MONDO:0001076 glucose intolerance skos:exactMatch mesh:D018149 semapv:UnspecifiedMatching MONDO:0001078 tropical sprue skos:exactMatch DOID:10607 tropical sprue semapv:UnspecifiedMatching MONDO:0001078 tropical sprue skos:exactMatch ICD10CM:K90.1 Tropical sprue semapv:UnspecifiedMatching MONDO:0001078 tropical sprue skos:exactMatch MEDGEN:21300 semapv:UnspecifiedMatching MONDO:0001078 tropical sprue skos:exactMatch NCIT:C45428 Tropical Sprue semapv:UnspecifiedMatching MONDO:0001078 tropical sprue skos:exactMatch SCTID:47384003 semapv:UnspecifiedMatching MONDO:0001078 tropical sprue skos:exactMatch UMLS:C0038054 semapv:UnspecifiedMatching MONDO:0001078 tropical sprue skos:exactMatch icd11.foundation:316377284 Tropical sprue semapv:UnspecifiedMatching MONDO:0001078 tropical sprue skos:exactMatch mesh:D013182 semapv:UnspecifiedMatching MONDO:0001079 pancreatic steatorrhea skos:exactMatch DOID:10610 pancreatic steatorrhea semapv:UnspecifiedMatching MONDO:0001079 pancreatic steatorrhea skos:exactMatch ICD10CM:K90.3 Pancreatic steatorrhea semapv:UnspecifiedMatching MONDO:0001079 pancreatic steatorrhea skos:exactMatch MEDGEN:508909 semapv:UnspecifiedMatching MONDO:0001079 pancreatic steatorrhea skos:exactMatch SCTID:54576000 semapv:UnspecifiedMatching MONDO:0001079 pancreatic steatorrhea skos:exactMatch UMLS:C0152166 semapv:UnspecifiedMatching MONDO:0001079 pancreatic steatorrhea skos:exactMatch icd11.foundation:54334889 Pancreatic steatorrhoea semapv:UnspecifiedMatching MONDO:0001080 acute gonococcal cervicitis skos:exactMatch DOID:10615 acute gonococcal cervicitis semapv:UnspecifiedMatching MONDO:0001080 acute gonococcal cervicitis skos:exactMatch MEDGEN:509197 semapv:UnspecifiedMatching MONDO:0001080 acute gonococcal cervicitis skos:exactMatch SCTID:20943002 semapv:UnspecifiedMatching MONDO:0001080 acute gonococcal cervicitis skos:exactMatch UMLS:C0153195 semapv:UnspecifiedMatching MONDO:0001080 acute gonococcal cervicitis skos:exactMatch icd11.foundation:2071927498 Acute gonococcal cervicitis semapv:UnspecifiedMatching MONDO:0001081 acute cervicitis skos:exactMatch DOID:10616 acute cervicitis semapv:UnspecifiedMatching MONDO:0001081 acute cervicitis skos:exactMatch MEDGEN:124346 semapv:UnspecifiedMatching MONDO:0001081 acute cervicitis skos:exactMatch NCIT:C27056 Acute Cervicitis semapv:UnspecifiedMatching MONDO:0001081 acute cervicitis skos:exactMatch SCTID:19272000 semapv:UnspecifiedMatching MONDO:0001081 acute cervicitis skos:exactMatch UMLS:C0269061 semapv:UnspecifiedMatching MONDO:0001081 acute cervicitis skos:exactMatch icd11.foundation:411422080 Acute cervicitis semapv:UnspecifiedMatching MONDO:0001082 lymph node cancer skos:exactMatch DOID:10619 lymph node cancer semapv:UnspecifiedMatching MONDO:0001082 lymph node cancer skos:exactMatch MEDGEN:182690 semapv:UnspecifiedMatching MONDO:0001082 lymph node cancer skos:exactMatch NCIT:C35812 Malignant Lymph Node Neoplasm semapv:UnspecifiedMatching MONDO:0001082 lymph node cancer skos:exactMatch SCTID:127232002 semapv:UnspecifiedMatching MONDO:0001082 lymph node cancer skos:exactMatch UMLS:C0948627 semapv:UnspecifiedMatching MONDO:0001083 Fanconi renotubular syndrome skos:exactMatch DOID:1062 Fanconi syndrome semapv:UnspecifiedMatching MONDO:0001083 Fanconi renotubular syndrome skos:exactMatch MEDGEN:4653 semapv:UnspecifiedMatching MONDO:0001083 Fanconi renotubular syndrome skos:exactMatch NCIT:C3034 Fanconi Syndrome semapv:UnspecifiedMatching MONDO:0001083 Fanconi renotubular syndrome skos:exactMatch SCTID:236466005 semapv:UnspecifiedMatching MONDO:0001083 Fanconi renotubular syndrome skos:exactMatch SCTID:40488004 semapv:UnspecifiedMatching MONDO:0001083 Fanconi renotubular syndrome skos:exactMatch UMLS:C0015624 semapv:UnspecifiedMatching MONDO:0001083 Fanconi renotubular syndrome skos:exactMatch icd11.foundation:788002727 Fanconi syndrome semapv:UnspecifiedMatching MONDO:0001083 Fanconi renotubular syndrome skos:exactMatch mesh:D005198 semapv:UnspecifiedMatching MONDO:0001084 primary optic atrophy skos:exactMatch DOID:10627 primary optic atrophy semapv:UnspecifiedMatching MONDO:0001084 primary optic atrophy skos:exactMatch ICD10CM:H47.21 Primary optic atrophy semapv:UnspecifiedMatching MONDO:0001084 primary optic atrophy skos:exactMatch MEDGEN:509897 semapv:UnspecifiedMatching MONDO:0001084 primary optic atrophy skos:exactMatch SCTID:21098003 semapv:UnspecifiedMatching MONDO:0001084 primary optic atrophy skos:exactMatch UMLS:C0155291 semapv:UnspecifiedMatching MONDO:0001085 interstitial nephritis skos:exactMatch DOID:1063 interstitial nephritis semapv:UnspecifiedMatching MONDO:0001085 interstitial nephritis skos:exactMatch ICD10CM:N10-N16 Renal tubulo-interstitial diseases (N10-N16) semapv:UnspecifiedMatching MONDO:0001085 interstitial nephritis skos:exactMatch MEDGEN:11952 semapv:UnspecifiedMatching MONDO:0001085 interstitial nephritis skos:exactMatch NCIT:C26834 Interstitial Nephritis semapv:UnspecifiedMatching MONDO:0001085 interstitial nephritis skos:exactMatch SCTID:28689008 semapv:UnspecifiedMatching MONDO:0001085 interstitial nephritis skos:exactMatch UMLS:C0041349 semapv:UnspecifiedMatching MONDO:0001085 interstitial nephritis skos:exactMatch mesh:D009395 semapv:UnspecifiedMatching MONDO:0001086 partial optic atrophy skos:exactMatch DOID:10631 partial optic atrophy semapv:UnspecifiedMatching MONDO:0001086 partial optic atrophy skos:exactMatch MEDGEN:509900 semapv:UnspecifiedMatching MONDO:0001086 partial optic atrophy skos:exactMatch SCTID:111527005 semapv:UnspecifiedMatching MONDO:0001086 partial optic atrophy skos:exactMatch UMLS:C0155295 semapv:UnspecifiedMatching MONDO:0001087 schizotypal personality disorder skos:exactMatch DOID:10646 schizotypal personality disorder semapv:UnspecifiedMatching MONDO:0001087 schizotypal personality disorder skos:exactMatch ICD10CM:F21 Schizotypal disorder semapv:UnspecifiedMatching MONDO:0001087 schizotypal personality disorder skos:exactMatch MEDGEN:1826899 semapv:UnspecifiedMatching MONDO:0001087 schizotypal personality disorder skos:exactMatch NCIT:C92632 Schizotypal Personality Disorder semapv:UnspecifiedMatching MONDO:0001087 schizotypal personality disorder skos:exactMatch SCTID:31027006 semapv:UnspecifiedMatching MONDO:0001087 schizotypal personality disorder skos:exactMatch UMLS:C1443045 semapv:UnspecifiedMatching MONDO:0001087 schizotypal personality disorder skos:exactMatch icd11.foundation:18178000 Schizotypal disorder semapv:UnspecifiedMatching MONDO:0001087 schizotypal personality disorder skos:exactMatch mesh:D012569 semapv:UnspecifiedMatching MONDO:0001088 acute inferoposterior infarction skos:exactMatch DOID:10648 acute inferoposterior infarction semapv:UnspecifiedMatching MONDO:0001088 acute inferoposterior infarction skos:exactMatch MEDGEN:573662 semapv:UnspecifiedMatching MONDO:0001088 acute inferoposterior infarction skos:exactMatch SCTID:76593002 semapv:UnspecifiedMatching MONDO:0001088 acute inferoposterior infarction skos:exactMatch UMLS:C0340304 semapv:UnspecifiedMatching MONDO:0001089 acute inferolateral myocardial infarction skos:exactMatch DOID:10649 acute inferolateral myocardial infarction semapv:UnspecifiedMatching MONDO:0001089 acute inferolateral myocardial infarction skos:exactMatch MEDGEN:573665 semapv:UnspecifiedMatching MONDO:0001089 acute inferolateral myocardial infarction skos:exactMatch SCTID:65547006 semapv:UnspecifiedMatching MONDO:0001089 acute inferolateral myocardial infarction skos:exactMatch UMLS:C0340308 semapv:UnspecifiedMatching MONDO:0001090 acute anterolateral myocardial infarction skos:exactMatch DOID:10651 acute anterolateral myocardial infarction semapv:UnspecifiedMatching MONDO:0001090 acute anterolateral myocardial infarction skos:exactMatch MEDGEN:510040 semapv:UnspecifiedMatching MONDO:0001090 acute anterolateral myocardial infarction skos:exactMatch SCTID:70211005 semapv:UnspecifiedMatching MONDO:0001090 acute anterolateral myocardial infarction skos:exactMatch UMLS:C0155627 semapv:UnspecifiedMatching MONDO:0001091 lipoma of colon skos:exactMatch DOID:10655 lipoma of colon semapv:UnspecifiedMatching MONDO:0001091 lipoma of colon skos:exactMatch MEDGEN:182652 semapv:UnspecifiedMatching MONDO:0001091 lipoma of colon skos:exactMatch NCIT:C5493 Colon Lipoma semapv:UnspecifiedMatching MONDO:0001091 lipoma of colon skos:exactMatch UMLS:C0940607 semapv:UnspecifiedMatching MONDO:0001092 colon leiomyoma skos:exactMatch DOID:10656 colon leiomyoma semapv:UnspecifiedMatching MONDO:0001092 colon leiomyoma skos:exactMatch MEDGEN:232379 semapv:UnspecifiedMatching MONDO:0001092 colon leiomyoma skos:exactMatch NCIT:C5492 Colon Leiomyoma semapv:UnspecifiedMatching MONDO:0001092 colon leiomyoma skos:exactMatch UMLS:C1333092 semapv:UnspecifiedMatching MONDO:0001093 colonic lymphangioma skos:exactMatch DOID:10657 colonic lymphangioma semapv:UnspecifiedMatching MONDO:0001093 colonic lymphangioma skos:exactMatch MEDGEN:232381 semapv:UnspecifiedMatching MONDO:0001093 colonic lymphangioma skos:exactMatch NCIT:C5500 Colon Lymphangioma semapv:UnspecifiedMatching MONDO:0001093 colonic lymphangioma skos:exactMatch UMLS:C1333094 semapv:UnspecifiedMatching MONDO:0001094 residual stage of open angle glaucoma skos:exactMatch DOID:1066 residual stage of open angle glaucoma semapv:UnspecifiedMatching MONDO:0001094 residual stage of open angle glaucoma skos:exactMatch MEDGEN:509733 semapv:UnspecifiedMatching MONDO:0001094 residual stage of open angle glaucoma skos:exactMatch SCTID:66990007 semapv:UnspecifiedMatching MONDO:0001094 residual stage of open angle glaucoma skos:exactMatch UMLS:C0154944 semapv:UnspecifiedMatching MONDO:0001095 mediastinum neuroblastoma skos:exactMatch DOID:10660 mediastinum neuroblastoma semapv:UnspecifiedMatching MONDO:0001095 mediastinum neuroblastoma skos:exactMatch EFO:1000367 semapv:UnspecifiedMatching MONDO:0001095 mediastinum neuroblastoma skos:exactMatch MEDGEN:235313 semapv:UnspecifiedMatching MONDO:0001095 mediastinum neuroblastoma skos:exactMatch NCIT:C6628 Mediastinal Neuroblastoma semapv:UnspecifiedMatching MONDO:0001095 mediastinum neuroblastoma skos:exactMatch UMLS:C1334673 semapv:UnspecifiedMatching MONDO:0001096 mediastinum ganglioneuroblastoma skos:exactMatch DOID:10661 mediastinum ganglioneuroblastoma semapv:UnspecifiedMatching MONDO:0001096 mediastinum ganglioneuroblastoma skos:exactMatch MEDGEN:235308 semapv:UnspecifiedMatching MONDO:0001096 mediastinum ganglioneuroblastoma skos:exactMatch NCIT:C6627 Mediastinal Ganglioneuroblastoma semapv:UnspecifiedMatching MONDO:0001096 mediastinum ganglioneuroblastoma skos:exactMatch UMLS:C1334653 semapv:UnspecifiedMatching MONDO:0001098 separation anxiety disorder skos:exactMatch DOID:10685 separation anxiety disorder semapv:UnspecifiedMatching MONDO:0001098 separation anxiety disorder skos:exactMatch EFO:1001916 semapv:UnspecifiedMatching MONDO:0001098 separation anxiety disorder skos:exactMatch MEDGEN:1999 semapv:UnspecifiedMatching MONDO:0001098 separation anxiety disorder skos:exactMatch NCIT:C35014 Separation Anxiety Disorder semapv:UnspecifiedMatching MONDO:0001098 separation anxiety disorder skos:exactMatch SCTID:11806006 semapv:UnspecifiedMatching MONDO:0001098 separation anxiety disorder skos:exactMatch UMLS:C0003477 semapv:UnspecifiedMatching MONDO:0001098 separation anxiety disorder skos:exactMatch icd11.foundation:830200631 Separation anxiety disorder semapv:UnspecifiedMatching MONDO:0001098 separation anxiety disorder skos:exactMatch mesh:D001010 semapv:UnspecifiedMatching MONDO:0001099 lactocele skos:exactMatch DOID:10686 lactocele semapv:UnspecifiedMatching MONDO:0001099 lactocele skos:exactMatch MEDGEN:101829 semapv:UnspecifiedMatching MONDO:0001099 lactocele skos:exactMatch NCIT:C3515 Galactocele semapv:UnspecifiedMatching MONDO:0001099 lactocele skos:exactMatch SCTID:42385006 semapv:UnspecifiedMatching MONDO:0001099 lactocele skos:exactMatch UMLS:C0152243 semapv:UnspecifiedMatching MONDO:0001099 lactocele skos:exactMatch icd11.foundation:1987155556 Lactocele semapv:UnspecifiedMatching MONDO:0001099 lactocele skos:exactMatch mesh:C535998 semapv:UnspecifiedMatching MONDO:0001100 hypertrophy of breast skos:exactMatch DOID:10688 hypertrophy of breast semapv:UnspecifiedMatching MONDO:0001100 hypertrophy of breast skos:exactMatch ICD10CM:N62 Hypertrophy of breast semapv:UnspecifiedMatching MONDO:0001100 hypertrophy of breast skos:exactMatch ICD10WHO:N62 Hypertrophy of breast semapv:UnspecifiedMatching MONDO:0001100 hypertrophy of breast skos:exactMatch MEDGEN:43789 semapv:UnspecifiedMatching MONDO:0001100 hypertrophy of breast skos:exactMatch NCIT:C3125 Breast Hypertrophy semapv:UnspecifiedMatching MONDO:0001100 hypertrophy of breast skos:exactMatch SCTID:372281005 semapv:UnspecifiedMatching MONDO:0001100 hypertrophy of breast skos:exactMatch UMLS:C0020565 semapv:UnspecifiedMatching MONDO:0001100 hypertrophy of breast skos:exactMatch icd11.foundation:2078176266 Hypertrophy of breast semapv:UnspecifiedMatching MONDO:0001101 fat necrosis of breast skos:exactMatch DOID:10691 fat necrosis of breast semapv:UnspecifiedMatching MONDO:0001101 fat necrosis of breast skos:exactMatch ICD10CM:N64.1 Fat necrosis of breast semapv:UnspecifiedMatching MONDO:0001101 fat necrosis of breast skos:exactMatch MEDGEN:57847 semapv:UnspecifiedMatching MONDO:0001101 fat necrosis of breast skos:exactMatch NCIT:C3661 Breast Fat Necrosis semapv:UnspecifiedMatching MONDO:0001101 fat necrosis of breast skos:exactMatch SCTID:21381006 semapv:UnspecifiedMatching MONDO:0001101 fat necrosis of breast skos:exactMatch UMLS:C0156321 semapv:UnspecifiedMatching MONDO:0001101 fat necrosis of breast skos:exactMatch icd11.foundation:149925294 Fat necrosis of breast semapv:UnspecifiedMatching MONDO:0001103 giardiasis skos:exactMatch DOID:10718 giardiasis semapv:UnspecifiedMatching MONDO:0001103 giardiasis skos:exactMatch ICD10CM:A07.1 Giardiasis [lambliasis] semapv:UnspecifiedMatching MONDO:0001103 giardiasis skos:exactMatch MEDGEN:42213 semapv:UnspecifiedMatching MONDO:0001103 giardiasis skos:exactMatch SCTID:10679007 semapv:UnspecifiedMatching MONDO:0001103 giardiasis skos:exactMatch UMLS:C0017536 semapv:UnspecifiedMatching MONDO:0001103 giardiasis skos:exactMatch icd11.foundation:433310499 Giardiasis semapv:UnspecifiedMatching MONDO:0001103 giardiasis skos:exactMatch mesh:D005873 semapv:UnspecifiedMatching MONDO:0001104 toxic diffuse goiter skos:exactMatch DOID:10719 toxic diffuse goiter semapv:UnspecifiedMatching MONDO:0001104 toxic diffuse goiter skos:exactMatch ICD10CM:E05.0 Thyrotoxicosis with diffuse goiter semapv:UnspecifiedMatching MONDO:0001104 toxic diffuse goiter skos:exactMatch MEDGEN:488851 semapv:UnspecifiedMatching MONDO:0001104 toxic diffuse goiter skos:exactMatch SCTID:267374005 semapv:UnspecifiedMatching MONDO:0001104 toxic diffuse goiter skos:exactMatch UMLS:C0342122 semapv:UnspecifiedMatching MONDO:0001105 renal hypertension skos:exactMatch DOID:1073 renal hypertension semapv:UnspecifiedMatching MONDO:0001105 renal hypertension skos:exactMatch EFO:1002039 semapv:UnspecifiedMatching MONDO:0001105 renal hypertension skos:exactMatch MEDGEN:5700 semapv:UnspecifiedMatching MONDO:0001105 renal hypertension skos:exactMatch SCTID:28119000 semapv:UnspecifiedMatching MONDO:0001105 renal hypertension skos:exactMatch UMLS:C0020544 semapv:UnspecifiedMatching MONDO:0001105 renal hypertension skos:exactMatch mesh:D006977 semapv:UnspecifiedMatching MONDO:0001106 kidney failure skos:exactMatch DOID:1074 kidney failure semapv:UnspecifiedMatching MONDO:0001106 kidney failure skos:exactMatch EFO:1002048 semapv:UnspecifiedMatching MONDO:0001106 kidney failure skos:exactMatch MEDGEN:11177 semapv:UnspecifiedMatching MONDO:0001106 kidney failure skos:exactMatch NCIT:C4376 Renal Failure semapv:UnspecifiedMatching MONDO:0001106 kidney failure skos:exactMatch SCTID:42399005 semapv:UnspecifiedMatching MONDO:0001106 kidney failure skos:exactMatch UMLS:C0035078 semapv:UnspecifiedMatching MONDO:0001106 kidney failure skos:exactMatch icd11.foundation:761526554 Kidney failure semapv:UnspecifiedMatching MONDO:0001106 kidney failure skos:exactMatch mesh:D051437 semapv:UnspecifiedMatching MONDO:0001108 broad ligament malignant neoplasm skos:exactMatch DOID:10744 broad ligament malignant neoplasm semapv:UnspecifiedMatching MONDO:0001108 broad ligament malignant neoplasm skos:exactMatch MEDGEN:577691 semapv:UnspecifiedMatching MONDO:0001108 broad ligament malignant neoplasm skos:exactMatch NCIT:C179934 Malignant Broad Ligament Neoplasm semapv:UnspecifiedMatching MONDO:0001108 broad ligament malignant neoplasm skos:exactMatch SCTID:449259009 semapv:UnspecifiedMatching MONDO:0001108 broad ligament malignant neoplasm skos:exactMatch UMLS:C0346866 semapv:UnspecifiedMatching MONDO:0001109 petrositis skos:exactMatch DOID:10755 petrositis semapv:UnspecifiedMatching MONDO:0001109 petrositis skos:exactMatch ICD10CM:H70.2 Petrositis semapv:UnspecifiedMatching MONDO:0001109 petrositis skos:exactMatch MEDGEN:452133 semapv:UnspecifiedMatching MONDO:0001109 petrositis skos:exactMatch SCTID:28593007 semapv:UnspecifiedMatching MONDO:0001109 petrositis skos:exactMatch UMLS:C0155448 semapv:UnspecifiedMatching MONDO:0001109 petrositis skos:exactMatch icd11.foundation:716546173 Petrositis semapv:UnspecifiedMatching MONDO:0001109 petrositis skos:exactMatch mesh:D059270 semapv:UnspecifiedMatching MONDO:0001110 chronic pyelonephritis skos:exactMatch DOID:1076 chronic pyelonephritis semapv:UnspecifiedMatching MONDO:0001110 chronic pyelonephritis skos:exactMatch MEDGEN:39090 semapv:UnspecifiedMatching MONDO:0001110 chronic pyelonephritis skos:exactMatch NCIT:C123216 Chronic Pyelonephritis semapv:UnspecifiedMatching MONDO:0001110 chronic pyelonephritis skos:exactMatch SCTID:63302006 semapv:UnspecifiedMatching MONDO:0001110 chronic pyelonephritis skos:exactMatch UMLS:C0085697 semapv:UnspecifiedMatching MONDO:0001110 chronic pyelonephritis skos:exactMatch icd11.foundation:1346439976 Chronic pyelonephritis semapv:UnspecifiedMatching MONDO:0001112 bubonic plague skos:exactMatch DOID:10773 bubonic plague semapv:UnspecifiedMatching MONDO:0001112 bubonic plague skos:exactMatch ICD10CM:A20.0 Bubonic plague semapv:UnspecifiedMatching MONDO:0001112 bubonic plague skos:exactMatch MEDGEN:76407 semapv:UnspecifiedMatching MONDO:0001112 bubonic plague skos:exactMatch SCTID:50797007 semapv:UnspecifiedMatching MONDO:0001112 bubonic plague skos:exactMatch UMLS:C0282312 semapv:UnspecifiedMatching MONDO:0001112 bubonic plague skos:exactMatch icd11.foundation:1742025109 Bubonic plague semapv:UnspecifiedMatching MONDO:0001113 Fiedler's myocarditis skos:exactMatch DOID:10778 fiedler's myocarditis semapv:UnspecifiedMatching MONDO:0001113 Fiedler's myocarditis skos:exactMatch ICD10CM:I40.1 Isolated myocarditis semapv:UnspecifiedMatching MONDO:0001113 Fiedler's myocarditis skos:exactMatch MEDGEN:510047 semapv:UnspecifiedMatching MONDO:0001113 Fiedler's myocarditis skos:exactMatch SCTID:266238009 semapv:UnspecifiedMatching MONDO:0001113 Fiedler's myocarditis skos:exactMatch UMLS:C0155689 semapv:UnspecifiedMatching MONDO:0001114 bacterial myocarditis skos:exactMatch DOID:10779 septic myocarditis semapv:UnspecifiedMatching MONDO:0001114 bacterial myocarditis skos:exactMatch ICD10CM:I40.0 Infective myocarditis semapv:UnspecifiedMatching MONDO:0001114 bacterial myocarditis skos:exactMatch MEDGEN:730492 semapv:UnspecifiedMatching MONDO:0001114 bacterial myocarditis skos:exactMatch NCIT:C128380 Bacterial Myocarditis semapv:UnspecifiedMatching MONDO:0001114 bacterial myocarditis skos:exactMatch SCTID:64043005 semapv:UnspecifiedMatching MONDO:0001114 bacterial myocarditis skos:exactMatch UMLS:C1384588 semapv:UnspecifiedMatching MONDO:0001114 bacterial myocarditis skos:exactMatch icd11.foundation:900037931 Bacterial myocarditis semapv:UnspecifiedMatching MONDO:0001115 familial polycythemia skos:exactMatch DOID:10780 primary polycythemia semapv:UnspecifiedMatching MONDO:0001115 familial polycythemia skos:exactMatch ICD10CM:D75.0 Familial erythrocytosis semapv:UnspecifiedMatching MONDO:0001115 familial polycythemia skos:exactMatch MEDGEN:57520 semapv:UnspecifiedMatching MONDO:0001115 familial polycythemia skos:exactMatch NCIT:C26955 Familial Polycythemia semapv:UnspecifiedMatching MONDO:0001115 familial polycythemia skos:exactMatch OMIMPS:133100 Erythrocytosis, familial semapv:UnspecifiedMatching MONDO:0001115 familial polycythemia skos:exactMatch UMLS:C0152264 semapv:UnspecifiedMatching MONDO:0001116 mesenteric lymphadenitis skos:exactMatch DOID:10782 mesenteric lymphadenitis semapv:UnspecifiedMatching MONDO:0001116 mesenteric lymphadenitis skos:exactMatch ICD10CM:I88.0 Nonspecific mesenteric lymphadenitis semapv:UnspecifiedMatching MONDO:0001116 mesenteric lymphadenitis skos:exactMatch MEDGEN:6318 semapv:UnspecifiedMatching MONDO:0001116 mesenteric lymphadenitis skos:exactMatch NCIT:C26830 Mesenteric Lymphadenitis semapv:UnspecifiedMatching MONDO:0001116 mesenteric lymphadenitis skos:exactMatch SCTID:44897000 semapv:UnspecifiedMatching MONDO:0001116 mesenteric lymphadenitis skos:exactMatch UMLS:C0025469 semapv:UnspecifiedMatching MONDO:0001116 mesenteric lymphadenitis skos:exactMatch icd11.foundation:637335249 Nonspecific mesenteric lymphadenitis semapv:UnspecifiedMatching MONDO:0001116 mesenteric lymphadenitis skos:exactMatch mesh:D008640 semapv:UnspecifiedMatching MONDO:0001117 methemoglobinemia skos:exactMatch DOID:10783 methemoglobinemia semapv:UnspecifiedMatching MONDO:0001117 methemoglobinemia skos:exactMatch ICD10CM:D74 Methemoglobinemia semapv:UnspecifiedMatching MONDO:0001117 methemoglobinemia skos:exactMatch MEDGEN:6339 semapv:UnspecifiedMatching MONDO:0001117 methemoglobinemia skos:exactMatch NCIT:C34817 Methemoglobinemia semapv:UnspecifiedMatching MONDO:0001117 methemoglobinemia skos:exactMatch SCTID:38959009 semapv:UnspecifiedMatching MONDO:0001117 methemoglobinemia skos:exactMatch UMLS:C0025637 semapv:UnspecifiedMatching MONDO:0001117 methemoglobinemia skos:exactMatch mesh:D008708 semapv:UnspecifiedMatching MONDO:0001118 Queensland tick typhus skos:exactMatch DOID:10784 Queensland tick typhus semapv:UnspecifiedMatching MONDO:0001118 Queensland tick typhus skos:exactMatch ICD10CM:A77.3 Spotted fever due to Rickettsia australis semapv:UnspecifiedMatching MONDO:0001118 Queensland tick typhus skos:exactMatch MEDGEN:755996 semapv:UnspecifiedMatching MONDO:0001118 Queensland tick typhus skos:exactMatch SCTID:68981009 semapv:UnspecifiedMatching MONDO:0001118 Queensland tick typhus skos:exactMatch UMLS:C2979888 semapv:UnspecifiedMatching MONDO:0001118 Queensland tick typhus skos:exactMatch icd11.foundation:2020851679 Spotted fever due to Rickettsia australis semapv:UnspecifiedMatching MONDO:0001119 premature menopause skos:exactMatch DOID:10787 premature menopause semapv:UnspecifiedMatching MONDO:0001119 premature menopause skos:exactMatch EFO:0009005 semapv:UnspecifiedMatching MONDO:0001119 premature menopause skos:exactMatch ICD10CM:E28.31 Premature menopause semapv:UnspecifiedMatching MONDO:0001119 premature menopause skos:exactMatch MEDGEN:9963 semapv:UnspecifiedMatching MONDO:0001119 premature menopause skos:exactMatch NCIT:C80099 Premature Menopause semapv:UnspecifiedMatching MONDO:0001119 premature menopause skos:exactMatch SCTID:237788002 semapv:UnspecifiedMatching MONDO:0001119 premature menopause skos:exactMatch UMLS:C0025322 semapv:UnspecifiedMatching MONDO:0001119 premature menopause skos:exactMatch mesh:D008594 semapv:UnspecifiedMatching MONDO:0001120 chronic frontal sinusitis skos:exactMatch DOID:10790 chronic frontal sinusitis semapv:UnspecifiedMatching MONDO:0001120 chronic frontal sinusitis skos:exactMatch ICD10CM:J32.1 Chronic frontal sinusitis semapv:UnspecifiedMatching MONDO:0001120 chronic frontal sinusitis skos:exactMatch MEDGEN:3455 semapv:UnspecifiedMatching MONDO:0001120 chronic frontal sinusitis skos:exactMatch NCIT:C34473 Chronic Frontal Sinusitis semapv:UnspecifiedMatching MONDO:0001120 chronic frontal sinusitis skos:exactMatch SCTID:60130002 semapv:UnspecifiedMatching MONDO:0001120 chronic frontal sinusitis skos:exactMatch UMLS:C0008683 semapv:UnspecifiedMatching MONDO:0001120 chronic frontal sinusitis skos:exactMatch icd11.foundation:881075891 Chronic frontal sinusitis semapv:UnspecifiedMatching MONDO:0001121 frontal sinusitis skos:exactMatch DOID:10791 frontal sinusitis semapv:UnspecifiedMatching MONDO:0001121 frontal sinusitis skos:exactMatch MEDGEN:8919 semapv:UnspecifiedMatching MONDO:0001121 frontal sinusitis skos:exactMatch NCIT:C34626 Frontal Sinusitis semapv:UnspecifiedMatching MONDO:0001121 frontal sinusitis skos:exactMatch SCTID:78737005 semapv:UnspecifiedMatching MONDO:0001121 frontal sinusitis skos:exactMatch UMLS:C0016735 semapv:UnspecifiedMatching MONDO:0001121 frontal sinusitis skos:exactMatch mesh:D015522 semapv:UnspecifiedMatching MONDO:0001122 chronic maxillary sinusitis skos:exactMatch DOID:10792 chronic maxillary sinusitis semapv:UnspecifiedMatching MONDO:0001122 chronic maxillary sinusitis skos:exactMatch ICD10CM:J32.0 Chronic maxillary sinusitis semapv:UnspecifiedMatching MONDO:0001122 chronic maxillary sinusitis skos:exactMatch MEDGEN:966 semapv:UnspecifiedMatching MONDO:0001122 chronic maxillary sinusitis skos:exactMatch NCIT:C34477 Chronic Maxillary Sinusitis semapv:UnspecifiedMatching MONDO:0001122 chronic maxillary sinusitis skos:exactMatch SCTID:35923002 semapv:UnspecifiedMatching MONDO:0001122 chronic maxillary sinusitis skos:exactMatch UMLS:C0008698 semapv:UnspecifiedMatching MONDO:0001122 chronic maxillary sinusitis skos:exactMatch icd11.foundation:1372580647 Chronic maxillary sinusitis semapv:UnspecifiedMatching MONDO:0001123 chronic sphenoidal sinusitis skos:exactMatch DOID:10793 chronic sphenoidal sinusitis semapv:UnspecifiedMatching MONDO:0001123 chronic sphenoidal sinusitis skos:exactMatch ICD10CM:J32.3 Chronic sphenoidal sinusitis semapv:UnspecifiedMatching MONDO:0001123 chronic sphenoidal sinusitis skos:exactMatch MEDGEN:3087 semapv:UnspecifiedMatching MONDO:0001123 chronic sphenoidal sinusitis skos:exactMatch NCIT:C34480 Chronic Sphenoidal Sinusitis semapv:UnspecifiedMatching MONDO:0001123 chronic sphenoidal sinusitis skos:exactMatch SCTID:38961000 semapv:UnspecifiedMatching MONDO:0001123 chronic sphenoidal sinusitis skos:exactMatch UMLS:C0008712 semapv:UnspecifiedMatching MONDO:0001123 chronic sphenoidal sinusitis skos:exactMatch icd11.foundation:627227610 Chronic sphenoidal sinusitis semapv:UnspecifiedMatching MONDO:0001125 acute gonococcal epididymo-orchitis skos:exactMatch DOID:10802 acute gonococcal epididymo-orchitis semapv:UnspecifiedMatching MONDO:0001125 acute gonococcal epididymo-orchitis skos:exactMatch MEDGEN:509195 semapv:UnspecifiedMatching MONDO:0001125 acute gonococcal epididymo-orchitis skos:exactMatch SCTID:30168008 semapv:UnspecifiedMatching MONDO:0001125 acute gonococcal epididymo-orchitis skos:exactMatch UMLS:C0153193 semapv:UnspecifiedMatching MONDO:0001126 gastric ulcer skos:exactMatch DOID:10808 gastric ulcer semapv:UnspecifiedMatching MONDO:0001126 gastric ulcer skos:exactMatch EFO:0009454 semapv:UnspecifiedMatching MONDO:0001126 gastric ulcer skos:exactMatch ICD10CM:K25 Gastric ulcer semapv:UnspecifiedMatching MONDO:0001126 gastric ulcer skos:exactMatch ICD10WHO:K25 Gastric ulcer semapv:UnspecifiedMatching MONDO:0001126 gastric ulcer skos:exactMatch MEDGEN:21330 semapv:UnspecifiedMatching MONDO:0001126 gastric ulcer skos:exactMatch NCIT:C3388 Gastric Ulcer semapv:UnspecifiedMatching MONDO:0001126 gastric ulcer skos:exactMatch SCTID:397825006 semapv:UnspecifiedMatching MONDO:0001126 gastric ulcer skos:exactMatch UMLS:C0038358 semapv:UnspecifiedMatching MONDO:0001126 gastric ulcer skos:exactMatch icd11.foundation:1437411258 Gastric ulcer semapv:UnspecifiedMatching MONDO:0001126 gastric ulcer skos:exactMatch mesh:D013276 semapv:UnspecifiedMatching MONDO:0001127 tibialis tendinitis skos:exactMatch DOID:10810 tibialis tendinitis semapv:UnspecifiedMatching MONDO:0001127 tibialis tendinitis skos:exactMatch MEDGEN:510515 semapv:UnspecifiedMatching MONDO:0001127 tibialis tendinitis skos:exactMatch SCTID:50127006 semapv:UnspecifiedMatching MONDO:0001127 tibialis tendinitis skos:exactMatch UMLS:C0158321 semapv:UnspecifiedMatching MONDO:0001128 nasal cavity cancer skos:exactMatch DOID:10811 nasal cavity cancer semapv:UnspecifiedMatching MONDO:0001128 nasal cavity cancer skos:exactMatch ICD10CM:C30.0 Malignant neoplasm of nasal cavity semapv:UnspecifiedMatching MONDO:0001128 nasal cavity cancer skos:exactMatch MEDGEN:152601 semapv:UnspecifiedMatching MONDO:0001128 nasal cavity cancer skos:exactMatch NCIT:C4918 Malignant Nasal Cavity Neoplasm semapv:UnspecifiedMatching MONDO:0001128 nasal cavity cancer skos:exactMatch SCTID:363422006 semapv:UnspecifiedMatching MONDO:0001128 nasal cavity cancer skos:exactMatch UMLS:C0728864 semapv:UnspecifiedMatching MONDO:0001128 nasal cavity cancer skos:exactMatch icd11.foundation:1078206702 Malignant neoplasms of nasal cavity semapv:UnspecifiedMatching MONDO:0001129 nasal cavity olfactory neuroblastoma skos:exactMatch DOID:10812 nasal cavity olfactory neuroblastoma semapv:UnspecifiedMatching MONDO:0001129 nasal cavity olfactory neuroblastoma skos:exactMatch MEDGEN:233749 semapv:UnspecifiedMatching MONDO:0001129 nasal cavity olfactory neuroblastoma skos:exactMatch NCIT:C7604 Nasal Cavity Olfactory Neuroblastoma semapv:UnspecifiedMatching MONDO:0001129 nasal cavity olfactory neuroblastoma skos:exactMatch UMLS:C1334923 semapv:UnspecifiedMatching MONDO:0001130 nasal cavity lymphoma skos:exactMatch DOID:10813 nasal cavity lymphoma semapv:UnspecifiedMatching MONDO:0001130 nasal cavity lymphoma skos:exactMatch MEDGEN:233747 semapv:UnspecifiedMatching MONDO:0001130 nasal cavity lymphoma skos:exactMatch NCIT:C6074 Nasal Cavity Lymphoma semapv:UnspecifiedMatching MONDO:0001130 nasal cavity lymphoma skos:exactMatch UMLS:C1334921 semapv:UnspecifiedMatching MONDO:0001132 sexual sadism disorder skos:exactMatch DOID:10817 sexual sadism semapv:UnspecifiedMatching MONDO:0001132 sexual sadism disorder skos:exactMatch ICD10CM:F65.52 Sexual sadism semapv:UnspecifiedMatching MONDO:0001132 sexual sadism disorder skos:exactMatch MEDGEN:19957 semapv:UnspecifiedMatching MONDO:0001132 sexual sadism disorder skos:exactMatch NCIT:C94358 Sexual Sadism semapv:UnspecifiedMatching MONDO:0001132 sexual sadism disorder skos:exactMatch SCTID:59394009 semapv:UnspecifiedMatching MONDO:0001132 sexual sadism disorder skos:exactMatch UMLS:C0036913 semapv:UnspecifiedMatching MONDO:0001132 sexual sadism disorder skos:exactMatch mesh:D012448 semapv:UnspecifiedMatching MONDO:0001133 malignant essential hypertension skos:exactMatch DOID:10823 malignant essential hypertension semapv:UnspecifiedMatching MONDO:0001133 malignant essential hypertension skos:exactMatch MEDGEN:9866 semapv:UnspecifiedMatching MONDO:0001133 malignant essential hypertension skos:exactMatch NCIT:C34802 Malignant Essential Hypertension semapv:UnspecifiedMatching MONDO:0001133 malignant essential hypertension skos:exactMatch SCTID:78975002 semapv:UnspecifiedMatching MONDO:0001133 malignant essential hypertension skos:exactMatch UMLS:C0024588 semapv:UnspecifiedMatching MONDO:0001133 malignant essential hypertension skos:exactMatch icd11.foundation:644961579 Accelerated essential hypertension semapv:UnspecifiedMatching MONDO:0001134 essential hypertension skos:exactMatch DOID:10825 essential hypertension semapv:UnspecifiedMatching MONDO:0001134 essential hypertension skos:exactMatch MEDGEN:88442 semapv:UnspecifiedMatching MONDO:0001134 essential hypertension skos:exactMatch SCTID:59621000 semapv:UnspecifiedMatching MONDO:0001134 essential hypertension skos:exactMatch UMLS:C0085580 semapv:UnspecifiedMatching MONDO:0001134 essential hypertension skos:exactMatch icd11.foundation:761947693 Essential hypertension semapv:UnspecifiedMatching MONDO:0001134 essential hypertension skos:exactMatch mesh:D000075222 semapv:UnspecifiedMatching MONDO:0001135 voyeurism skos:exactMatch DOID:10834 voyeurism semapv:UnspecifiedMatching MONDO:0001135 voyeurism skos:exactMatch ICD10CM:F65.3 Voyeurism semapv:UnspecifiedMatching MONDO:0001135 voyeurism skos:exactMatch MEDGEN:12126 semapv:UnspecifiedMatching MONDO:0001135 voyeurism skos:exactMatch NCIT:C94360 Voyeurism semapv:UnspecifiedMatching MONDO:0001135 voyeurism skos:exactMatch SCTID:63835008 semapv:UnspecifiedMatching MONDO:0001135 voyeurism skos:exactMatch UMLS:C0042979 semapv:UnspecifiedMatching MONDO:0001135 voyeurism skos:exactMatch mesh:D014843 semapv:UnspecifiedMatching MONDO:0001136 chylocele of tunica vaginalis skos:exactMatch DOID:10835 chylocele of tunica vaginalis semapv:UnspecifiedMatching MONDO:0001136 chylocele of tunica vaginalis skos:exactMatch MEDGEN:510239 semapv:UnspecifiedMatching MONDO:0001136 chylocele of tunica vaginalis skos:exactMatch SCTID:7864001 semapv:UnspecifiedMatching MONDO:0001136 chylocele of tunica vaginalis skos:exactMatch UMLS:C0156315 semapv:UnspecifiedMatching MONDO:0001137 Murray valley encephalitis skos:exactMatch DOID:10842 Murray Valley encephalitis semapv:UnspecifiedMatching MONDO:0001137 Murray valley encephalitis skos:exactMatch ICD10CM:A83.4 Australian encephalitis semapv:UnspecifiedMatching MONDO:0001137 Murray valley encephalitis skos:exactMatch MEDGEN:509134 semapv:UnspecifiedMatching MONDO:0001137 Murray valley encephalitis skos:exactMatch SCTID:66454007 semapv:UnspecifiedMatching MONDO:0001137 Murray valley encephalitis skos:exactMatch UMLS:C0153066 semapv:UnspecifiedMatching MONDO:0001137 Murray valley encephalitis skos:exactMatch icd11.foundation:1040970454 Murray Valley encephalitis semapv:UnspecifiedMatching MONDO:0001138 angiodysplasia of intestine skos:exactMatch DOID:10846 angiodysplasia of intestine semapv:UnspecifiedMatching MONDO:0001138 angiodysplasia of intestine skos:exactMatch MEDGEN:540621 semapv:UnspecifiedMatching MONDO:0001138 angiodysplasia of intestine skos:exactMatch SCTID:235853006 semapv:UnspecifiedMatching MONDO:0001138 angiodysplasia of intestine skos:exactMatch UMLS:C0267367 semapv:UnspecifiedMatching MONDO:0001139 sexual masochism disorder skos:exactMatch DOID:10849 sexual masochism semapv:UnspecifiedMatching MONDO:0001139 sexual masochism disorder skos:exactMatch ICD10CM:F65.51 Sexual masochism semapv:UnspecifiedMatching MONDO:0001139 sexual masochism disorder skos:exactMatch MEDGEN:20727 semapv:UnspecifiedMatching MONDO:0001139 sexual masochism disorder skos:exactMatch NCIT:C94356 Sexual Masochism semapv:UnspecifiedMatching MONDO:0001139 sexual masochism disorder skos:exactMatch SCTID:51239001 semapv:UnspecifiedMatching MONDO:0001139 sexual masochism disorder skos:exactMatch UMLS:C0036908 semapv:UnspecifiedMatching MONDO:0001139 sexual masochism disorder skos:exactMatch mesh:D008398 semapv:UnspecifiedMatching MONDO:0001141 middle ear cholesterol granuloma skos:exactMatch DOID:10852 middle ear cholesterol granuloma semapv:UnspecifiedMatching MONDO:0001141 middle ear cholesterol granuloma skos:exactMatch MEDGEN:56364 semapv:UnspecifiedMatching MONDO:0001141 middle ear cholesterol granuloma skos:exactMatch SCTID:28371001 semapv:UnspecifiedMatching MONDO:0001141 middle ear cholesterol granuloma skos:exactMatch UMLS:C0155492 semapv:UnspecifiedMatching MONDO:0001142 salivary gland disorder skos:exactMatch DOID:10854 salivary gland disease semapv:UnspecifiedMatching MONDO:0001142 salivary gland disorder skos:exactMatch EFO:0008581 semapv:UnspecifiedMatching MONDO:0001142 salivary gland disorder skos:exactMatch MEDGEN:892384 semapv:UnspecifiedMatching MONDO:0001142 salivary gland disorder skos:exactMatch NCIT:C26879 Salivary Gland Disorder semapv:UnspecifiedMatching MONDO:0001142 salivary gland disorder skos:exactMatch SCTID:10890000 semapv:UnspecifiedMatching MONDO:0001142 salivary gland disorder skos:exactMatch UMLS:C0149772 semapv:UnspecifiedMatching MONDO:0001142 salivary gland disorder skos:exactMatch icd11.foundation:1432273670 Diseases of salivary glands semapv:UnspecifiedMatching MONDO:0001142 salivary gland disorder skos:exactMatch mesh:D012466 semapv:UnspecifiedMatching MONDO:0001143 paralytic strabismus skos:exactMatch DOID:10863 paralytic squint semapv:UnspecifiedMatching MONDO:0001143 paralytic strabismus skos:exactMatch EFO:0009678 semapv:UnspecifiedMatching MONDO:0001143 paralytic strabismus skos:exactMatch ICD10CM:H49 Paralytic strabismus semapv:UnspecifiedMatching MONDO:0001143 paralytic strabismus skos:exactMatch ICD10WHO:H49 Paralytic strabismus semapv:UnspecifiedMatching MONDO:0001143 paralytic strabismus skos:exactMatch MEDGEN:508935 semapv:UnspecifiedMatching MONDO:0001143 paralytic strabismus skos:exactMatch SCTID:400942002 semapv:UnspecifiedMatching MONDO:0001143 paralytic strabismus skos:exactMatch UMLS:C0152221 semapv:UnspecifiedMatching MONDO:0001143 paralytic strabismus skos:exactMatch icd11.foundation:1858781487 Paralytic squint semapv:UnspecifiedMatching MONDO:0001144 partial third-nerve palsy skos:exactMatch DOID:10864 partial third-nerve palsy semapv:UnspecifiedMatching MONDO:0001144 partial third-nerve palsy skos:exactMatch MEDGEN:75745 semapv:UnspecifiedMatching MONDO:0001144 partial third-nerve palsy skos:exactMatch SCTID:194118007 semapv:UnspecifiedMatching MONDO:0001144 partial third-nerve palsy skos:exactMatch UMLS:C0271370 semapv:UnspecifiedMatching MONDO:0001145 total third-nerve palsy skos:exactMatch DOID:10866 total third-nerve palsy semapv:UnspecifiedMatching MONDO:0001145 total third-nerve palsy skos:exactMatch MEDGEN:124396 semapv:UnspecifiedMatching MONDO:0001145 total third-nerve palsy skos:exactMatch SCTID:194119004 semapv:UnspecifiedMatching MONDO:0001145 total third-nerve palsy skos:exactMatch UMLS:C0271371 semapv:UnspecifiedMatching MONDO:0001146 fourth cranial nerve palsy skos:exactMatch DOID:10869 fourth cranial nerve palsy semapv:UnspecifiedMatching MONDO:0001146 fourth cranial nerve palsy skos:exactMatch MEDGEN:75746 semapv:UnspecifiedMatching MONDO:0001146 fourth cranial nerve palsy skos:exactMatch SCTID:20610004 semapv:UnspecifiedMatching MONDO:0001146 fourth cranial nerve palsy skos:exactMatch UMLS:C0271375 semapv:UnspecifiedMatching MONDO:0001146 fourth cranial nerve palsy skos:exactMatch icd11.foundation:120848300 Fourth nerve palsy semapv:UnspecifiedMatching MONDO:0001147 meningocele skos:exactMatch DOID:1088 meningocele semapv:UnspecifiedMatching MONDO:0001147 meningocele skos:exactMatch MEDGEN:44356 semapv:UnspecifiedMatching MONDO:0001147 meningocele skos:exactMatch NCIT:C101209 Spinal Meningocele semapv:UnspecifiedMatching MONDO:0001147 meningocele skos:exactMatch NCIT:C105595 Meningocele semapv:UnspecifiedMatching MONDO:0001147 meningocele skos:exactMatch SCTID:171131006 semapv:UnspecifiedMatching MONDO:0001147 meningocele skos:exactMatch UMLS:C0025299 semapv:UnspecifiedMatching MONDO:0001147 meningocele skos:exactMatch mesh:D008588 semapv:UnspecifiedMatching MONDO:0001148 iliac vein thrombophlebitis skos:exactMatch DOID:10880 iliac vein thrombophlebitis semapv:UnspecifiedMatching MONDO:0001148 iliac vein thrombophlebitis skos:exactMatch MEDGEN:578307 semapv:UnspecifiedMatching MONDO:0001148 iliac vein thrombophlebitis skos:exactMatch SCTID:42861008 semapv:UnspecifiedMatching MONDO:0001148 iliac vein thrombophlebitis skos:exactMatch UMLS:C0347887 semapv:UnspecifiedMatching MONDO:0001149 microcephaly skos:exactMatch DOID:10907 microcephaly semapv:UnspecifiedMatching MONDO:0001149 microcephaly skos:exactMatch ICD10CM:Q02 Microcephaly semapv:UnspecifiedMatching MONDO:0001149 microcephaly skos:exactMatch ICD10WHO:Q02 Microcephaly semapv:UnspecifiedMatching MONDO:0001149 microcephaly skos:exactMatch MEDGEN:1644158 semapv:UnspecifiedMatching MONDO:0001149 microcephaly skos:exactMatch NCIT:C85874 Microcephaly semapv:UnspecifiedMatching MONDO:0001149 microcephaly skos:exactMatch SCTID:1829003 semapv:UnspecifiedMatching MONDO:0001149 microcephaly skos:exactMatch UMLS:C4551563 semapv:UnspecifiedMatching MONDO:0001149 microcephaly skos:exactMatch icd11.foundation:179350437 Microcephaly semapv:UnspecifiedMatching MONDO:0001149 microcephaly skos:exactMatch mesh:D008831 semapv:UnspecifiedMatching MONDO:0001150 hydrocephalus skos:exactMatch DOID:10908 hydrocephalus semapv:UnspecifiedMatching MONDO:0001150 hydrocephalus skos:exactMatch ICD10CM:G91 Hydrocephalus semapv:UnspecifiedMatching MONDO:0001150 hydrocephalus skos:exactMatch ICD10WHO:G91 Hydrocephalus semapv:UnspecifiedMatching MONDO:0001150 hydrocephalus skos:exactMatch MEDGEN:9335 semapv:UnspecifiedMatching MONDO:0001150 hydrocephalus skos:exactMatch NCIT:C3111 Hydrocephalus semapv:UnspecifiedMatching MONDO:0001150 hydrocephalus skos:exactMatch SCTID:230745008 semapv:UnspecifiedMatching MONDO:0001150 hydrocephalus skos:exactMatch UMLS:C0020255 semapv:UnspecifiedMatching MONDO:0001150 hydrocephalus skos:exactMatch icd11.foundation:574533444 Hydrocephalus semapv:UnspecifiedMatching MONDO:0001150 hydrocephalus skos:exactMatch mesh:D006849 semapv:UnspecifiedMatching MONDO:0001151 benign essential hypertension skos:exactMatch DOID:10913 benign essential hypertension semapv:UnspecifiedMatching MONDO:0001151 benign essential hypertension skos:exactMatch MEDGEN:56371 semapv:UnspecifiedMatching MONDO:0001151 benign essential hypertension skos:exactMatch SCTID:1201005 semapv:UnspecifiedMatching MONDO:0001151 benign essential hypertension skos:exactMatch UMLS:C0155583 semapv:UnspecifiedMatching MONDO:0001152 amnestic disorder skos:exactMatch DOID:10914 amnestic disorder semapv:UnspecifiedMatching MONDO:0001152 amnestic disorder skos:exactMatch MEDGEN:1882 semapv:UnspecifiedMatching MONDO:0001152 amnestic disorder skos:exactMatch SCTID:3298001 semapv:UnspecifiedMatching MONDO:0001152 amnestic disorder skos:exactMatch UMLS:C0002625 semapv:UnspecifiedMatching MONDO:0001152 amnestic disorder skos:exactMatch icd11.foundation:386330688 Amnestic disorder semapv:UnspecifiedMatching MONDO:0001153 obsolete gender dysphoria skos:exactMatch DOID:10919 obsolete transsexualism semapv:UnspecifiedMatching MONDO:0001153 obsolete gender dysphoria skos:exactMatch Orphanet:459690 NON RARE IN EUROPE: Gender dysphoria semapv:UnspecifiedMatching MONDO:0001153 obsolete gender dysphoria skos:exactMatch SCTID:93461009 semapv:UnspecifiedMatching MONDO:0001153 obsolete gender dysphoria skos:exactMatch mesh:D000068116 semapv:UnspecifiedMatching MONDO:0001154 Siberian tick typhus skos:exactMatch DOID:10921 Siberian tick typhus semapv:UnspecifiedMatching MONDO:0001154 Siberian tick typhus skos:exactMatch ICD10CM:A77.2 Spotted fever due to Rickettsia siberica semapv:UnspecifiedMatching MONDO:0001154 Siberian tick typhus skos:exactMatch MEDGEN:639822 semapv:UnspecifiedMatching MONDO:0001154 Siberian tick typhus skos:exactMatch SCTID:186781003 semapv:UnspecifiedMatching MONDO:0001154 Siberian tick typhus skos:exactMatch UMLS:C0549160 semapv:UnspecifiedMatching MONDO:0001154 Siberian tick typhus skos:exactMatch icd11.foundation:490238539 Spotted fever due to Rickettsia sibirica semapv:UnspecifiedMatching MONDO:0001155 gastrojejunal ulcer skos:exactMatch DOID:10927 gastrojejunal ulcer semapv:UnspecifiedMatching MONDO:0001155 gastrojejunal ulcer skos:exactMatch ICD10CM:K28 Gastrojejunal ulcer semapv:UnspecifiedMatching MONDO:0001155 gastrojejunal ulcer skos:exactMatch ICD10CM:K28.0 Acute gastrojejunal ulcer with hemorrhage semapv:UnspecifiedMatching MONDO:0001155 gastrojejunal ulcer skos:exactMatch ICD10WHO:K28 Gastrojejunal ulcer semapv:UnspecifiedMatching MONDO:0001155 gastrojejunal ulcer skos:exactMatch MEDGEN:730503 semapv:UnspecifiedMatching MONDO:0001155 gastrojejunal ulcer skos:exactMatch SCTID:4269005 semapv:UnspecifiedMatching MONDO:0001155 gastrojejunal ulcer skos:exactMatch UMLS:C1384631 semapv:UnspecifiedMatching MONDO:0001155 gastrojejunal ulcer skos:exactMatch icd11.foundation:491213123 Gastrojejunal ulcer semapv:UnspecifiedMatching MONDO:0001156 borderline personality disorder skos:exactMatch DOID:10930 borderline personality disorder semapv:UnspecifiedMatching MONDO:0001156 borderline personality disorder skos:exactMatch ICD10CM:F60.3 Borderline personality disorder semapv:UnspecifiedMatching MONDO:0001156 borderline personality disorder skos:exactMatch MEDGEN:14197 semapv:UnspecifiedMatching MONDO:0001156 borderline personality disorder skos:exactMatch NCIT:C92633 Borderline Personality Disorder semapv:UnspecifiedMatching MONDO:0001156 borderline personality disorder skos:exactMatch SCTID:20010003 semapv:UnspecifiedMatching MONDO:0001156 borderline personality disorder skos:exactMatch UMLS:C0006012 semapv:UnspecifiedMatching MONDO:0001156 borderline personality disorder skos:exactMatch icd11.foundation:189289487 Borderline personality disorder semapv:UnspecifiedMatching MONDO:0001156 borderline personality disorder skos:exactMatch mesh:D001883 semapv:UnspecifiedMatching MONDO:0001157 dependent personality disorder skos:exactMatch DOID:10931 dependent personality disorder semapv:UnspecifiedMatching MONDO:0001157 dependent personality disorder skos:exactMatch ICD10CM:F60.7 Dependent personality disorder semapv:UnspecifiedMatching MONDO:0001157 dependent personality disorder skos:exactMatch MEDGEN:4225 semapv:UnspecifiedMatching MONDO:0001157 dependent personality disorder skos:exactMatch NCIT:C92637 Dependent Personality Disorder semapv:UnspecifiedMatching MONDO:0001157 dependent personality disorder skos:exactMatch SCTID:84466009 semapv:UnspecifiedMatching MONDO:0001157 dependent personality disorder skos:exactMatch UMLS:C0011548 semapv:UnspecifiedMatching MONDO:0001157 dependent personality disorder skos:exactMatch icd11.foundation:1283123068 Dependent personality disorder semapv:UnspecifiedMatching MONDO:0001157 dependent personality disorder skos:exactMatch mesh:D003859 semapv:UnspecifiedMatching MONDO:0001158 obsessive-compulsive personality disorder skos:exactMatch DOID:10932 obsessive-compulsive personality disorder semapv:UnspecifiedMatching MONDO:0001158 obsessive-compulsive personality disorder skos:exactMatch ICD10CM:F60.5 Obsessive-compulsive personality disorder semapv:UnspecifiedMatching MONDO:0001158 obsessive-compulsive personality disorder skos:exactMatch MEDGEN:40432 semapv:UnspecifiedMatching MONDO:0001158 obsessive-compulsive personality disorder skos:exactMatch NCIT:C92638 Obsessive-Compulsive Personality Disorder semapv:UnspecifiedMatching MONDO:0001158 obsessive-compulsive personality disorder skos:exactMatch SCTID:1376001 semapv:UnspecifiedMatching MONDO:0001158 obsessive-compulsive personality disorder skos:exactMatch UMLS:C0009595 semapv:UnspecifiedMatching MONDO:0001158 obsessive-compulsive personality disorder skos:exactMatch icd11.foundation:1570535959 Anankastic personality disorder semapv:UnspecifiedMatching MONDO:0001158 obsessive-compulsive personality disorder skos:exactMatch mesh:D003193 semapv:UnspecifiedMatching MONDO:0001159 multiple personality disorder skos:exactMatch DOID:10934 multiple personality disorder semapv:UnspecifiedMatching MONDO:0001159 multiple personality disorder skos:exactMatch ICD10CM:F44.81 Dissociative identity disorder semapv:UnspecifiedMatching MONDO:0001159 multiple personality disorder skos:exactMatch MEDGEN:44520 semapv:UnspecifiedMatching MONDO:0001159 multiple personality disorder skos:exactMatch NCIT:C94330 Dissociative Identity Disorder semapv:UnspecifiedMatching MONDO:0001159 multiple personality disorder skos:exactMatch SCTID:31611000 semapv:UnspecifiedMatching MONDO:0001159 multiple personality disorder skos:exactMatch UMLS:C0026773 semapv:UnspecifiedMatching MONDO:0001159 multiple personality disorder skos:exactMatch icd11.foundation:1829103493 Dissociative identity disorder semapv:UnspecifiedMatching MONDO:0001159 multiple personality disorder skos:exactMatch mesh:D009105 semapv:UnspecifiedMatching MONDO:0001160 dissociative disorder skos:exactMatch DOID:10935 dissociative disorder semapv:UnspecifiedMatching MONDO:0001160 dissociative disorder skos:exactMatch MEDGEN:3871 semapv:UnspecifiedMatching MONDO:0001160 dissociative disorder skos:exactMatch NCIT:C92197 Dissociative Disorder semapv:UnspecifiedMatching MONDO:0001160 dissociative disorder skos:exactMatch UMLS:C0012746 semapv:UnspecifiedMatching MONDO:0001160 dissociative disorder skos:exactMatch mesh:D004213 semapv:UnspecifiedMatching MONDO:0001161 schizoid personality disorder skos:exactMatch DOID:10936 schizoid personality disorder semapv:UnspecifiedMatching MONDO:0001161 schizoid personality disorder skos:exactMatch ICD10CM:F60.1 Schizoid personality disorder semapv:UnspecifiedMatching MONDO:0001161 schizoid personality disorder skos:exactMatch MEDGEN:20662 semapv:UnspecifiedMatching MONDO:0001161 schizoid personality disorder skos:exactMatch NCIT:C92631 Schizoid Personality Disorder semapv:UnspecifiedMatching MONDO:0001161 schizoid personality disorder skos:exactMatch SCTID:52954000 semapv:UnspecifiedMatching MONDO:0001161 schizoid personality disorder skos:exactMatch UMLS:C0036339 semapv:UnspecifiedMatching MONDO:0001161 schizoid personality disorder skos:exactMatch icd11.foundation:1524611454 Schizoid personality disorder semapv:UnspecifiedMatching MONDO:0001161 schizoid personality disorder skos:exactMatch mesh:D012557 semapv:UnspecifiedMatching MONDO:0001162 impulse control disorder skos:exactMatch DOID:10937 impulse control disorder semapv:UnspecifiedMatching MONDO:0001162 impulse control disorder skos:exactMatch MEDGEN:5769 semapv:UnspecifiedMatching MONDO:0001162 impulse control disorder skos:exactMatch NCIT:C34723 Impulse-Control Disorder semapv:UnspecifiedMatching MONDO:0001162 impulse control disorder skos:exactMatch SCTID:66347000 semapv:UnspecifiedMatching MONDO:0001162 impulse control disorder skos:exactMatch UMLS:C0021122 semapv:UnspecifiedMatching MONDO:0001163 paranoid personality disorder skos:exactMatch DOID:10938 paranoid personality disorder semapv:UnspecifiedMatching MONDO:0001163 paranoid personality disorder skos:exactMatch ICD10CM:F60.0 Paranoid personality disorder semapv:UnspecifiedMatching MONDO:0001163 paranoid personality disorder skos:exactMatch MEDGEN:45321 semapv:UnspecifiedMatching MONDO:0001163 paranoid personality disorder skos:exactMatch NCIT:C92630 Paranoid Personality Disorder semapv:UnspecifiedMatching MONDO:0001163 paranoid personality disorder skos:exactMatch SCTID:13601005 semapv:UnspecifiedMatching MONDO:0001163 paranoid personality disorder skos:exactMatch UMLS:C0030477 semapv:UnspecifiedMatching MONDO:0001163 paranoid personality disorder skos:exactMatch icd11.foundation:1066693864 Paranoid personality disorder semapv:UnspecifiedMatching MONDO:0001163 paranoid personality disorder skos:exactMatch mesh:D010260 semapv:UnspecifiedMatching MONDO:0001164 antisocial personality disorder skos:exactMatch DOID:10939 antisocial personality disorder semapv:UnspecifiedMatching MONDO:0001164 antisocial personality disorder skos:exactMatch ICD10CM:F60.2 Antisocial personality disorder semapv:UnspecifiedMatching MONDO:0001164 antisocial personality disorder skos:exactMatch MEDGEN:1611 semapv:UnspecifiedMatching MONDO:0001164 antisocial personality disorder skos:exactMatch NCIT:C88413 Antisocial Personality Disorder semapv:UnspecifiedMatching MONDO:0001164 antisocial personality disorder skos:exactMatch SCTID:26665006 semapv:UnspecifiedMatching MONDO:0001164 antisocial personality disorder skos:exactMatch UMLS:C0003431 semapv:UnspecifiedMatching MONDO:0001164 antisocial personality disorder skos:exactMatch icd11.foundation:779282819 Antisocial personality disorder semapv:UnspecifiedMatching MONDO:0001164 antisocial personality disorder skos:exactMatch mesh:D000987 semapv:UnspecifiedMatching MONDO:0001165 tongue disorder skos:exactMatch DOID:10944 tongue disease semapv:UnspecifiedMatching MONDO:0001165 tongue disorder skos:exactMatch MEDGEN:52777 semapv:UnspecifiedMatching MONDO:0001165 tongue disorder skos:exactMatch NCIT:C173793 Tongue Disorder semapv:UnspecifiedMatching MONDO:0001165 tongue disorder skos:exactMatch SCTID:69244009 semapv:UnspecifiedMatching MONDO:0001165 tongue disorder skos:exactMatch UMLS:C0040409 semapv:UnspecifiedMatching MONDO:0001165 tongue disorder skos:exactMatch icd11.foundation:928435705 Diseases of tongue semapv:UnspecifiedMatching MONDO:0001165 tongue disorder skos:exactMatch mesh:D014060 semapv:UnspecifiedMatching MONDO:0001166 nephritis skos:exactMatch DOID:10952 nephritis semapv:UnspecifiedMatching MONDO:0001166 nephritis skos:exactMatch EFO:1002050 semapv:UnspecifiedMatching MONDO:0001166 nephritis skos:exactMatch MEDGEN:14328 semapv:UnspecifiedMatching MONDO:0001166 nephritis skos:exactMatch NCIT:C26833 Nephritis semapv:UnspecifiedMatching MONDO:0001166 nephritis skos:exactMatch SCTID:52845002 semapv:UnspecifiedMatching MONDO:0001166 nephritis skos:exactMatch UMLS:C0027697 semapv:UnspecifiedMatching MONDO:0001166 nephritis skos:exactMatch mesh:D009393 semapv:UnspecifiedMatching MONDO:0001167 spastic diplegia skos:exactMatch DOID:10965 spastic diplegia semapv:UnspecifiedMatching MONDO:0001167 spastic diplegia skos:exactMatch MEDGEN:124371 semapv:UnspecifiedMatching MONDO:0001167 spastic diplegia skos:exactMatch NCIT:C34781 Spastic Diplegia semapv:UnspecifiedMatching MONDO:0001167 spastic diplegia skos:exactMatch SCTID:281411007 semapv:UnspecifiedMatching MONDO:0001167 spastic diplegia skos:exactMatch SCTID:58193001 semapv:UnspecifiedMatching MONDO:0001167 spastic diplegia skos:exactMatch UMLS:C0270804 semapv:UnspecifiedMatching MONDO:0001167 spastic diplegia skos:exactMatch icd11.foundation:563606390 Spastic diplegic cerebral palsy semapv:UnspecifiedMatching MONDO:0001167 spastic diplegia skos:exactMatch mesh:C537945 semapv:UnspecifiedMatching MONDO:0001168 spastic hemiplegia skos:exactMatch DOID:10967 spastic hemiplegia semapv:UnspecifiedMatching MONDO:0001168 spastic hemiplegia skos:exactMatch ICD10CM:G81.1 Spastic hemiplegia semapv:UnspecifiedMatching MONDO:0001168 spastic hemiplegia skos:exactMatch MEDGEN:56345 semapv:UnspecifiedMatching MONDO:0001168 spastic hemiplegia skos:exactMatch NCIT:C116905 Spastic Hemiplegia semapv:UnspecifiedMatching MONDO:0001168 spastic hemiplegia skos:exactMatch SCTID:79633009 semapv:UnspecifiedMatching MONDO:0001168 spastic hemiplegia skos:exactMatch UMLS:C0154694 semapv:UnspecifiedMatching MONDO:0001168 spastic hemiplegia skos:exactMatch icd11.foundation:1030700023 Spastic hemiplegia semapv:UnspecifiedMatching MONDO:0001169 spastic monoplegia skos:exactMatch DOID:10968 spastic monoplegia semapv:UnspecifiedMatching MONDO:0001169 spastic monoplegia skos:exactMatch MEDGEN:57593 semapv:UnspecifiedMatching MONDO:0001169 spastic monoplegia skos:exactMatch UMLS:C0154698 semapv:UnspecifiedMatching MONDO:0001170 hemiplegia skos:exactMatch DOID:10969 hemiplegia semapv:UnspecifiedMatching MONDO:0001170 hemiplegia skos:exactMatch EFO:0009453 semapv:UnspecifiedMatching MONDO:0001170 hemiplegia skos:exactMatch ICD10WHO:G81 Hemiplegia semapv:UnspecifiedMatching MONDO:0001170 hemiplegia skos:exactMatch MEDGEN:9196 semapv:UnspecifiedMatching MONDO:0001170 hemiplegia skos:exactMatch SCTID:1593000 semapv:UnspecifiedMatching MONDO:0001170 hemiplegia skos:exactMatch UMLS:C0018991 semapv:UnspecifiedMatching MONDO:0001170 hemiplegia skos:exactMatch icd11.foundation:1641958762 Hemiplegia semapv:UnspecifiedMatching MONDO:0001170 hemiplegia skos:exactMatch mesh:D006429 semapv:UnspecifiedMatching MONDO:0001171 acute salpingo-oophoritis skos:exactMatch DOID:10971 acute salpingo-oophoritis semapv:UnspecifiedMatching MONDO:0001171 acute salpingo-oophoritis skos:exactMatch MEDGEN:510243 semapv:UnspecifiedMatching MONDO:0001171 acute salpingo-oophoritis skos:exactMatch SCTID:266581008 semapv:UnspecifiedMatching MONDO:0001171 acute salpingo-oophoritis skos:exactMatch UMLS:C0156327 semapv:UnspecifiedMatching MONDO:0001172 salpingo-oophoritis skos:exactMatch DOID:10972 salpingo-oophoritis semapv:UnspecifiedMatching MONDO:0001172 salpingo-oophoritis skos:exactMatch MEDGEN:508106 semapv:UnspecifiedMatching MONDO:0001172 salpingo-oophoritis skos:exactMatch NCIT:C171201 Salpingo-Oophoritis semapv:UnspecifiedMatching MONDO:0001172 salpingo-oophoritis skos:exactMatch SCTID:46536000 semapv:UnspecifiedMatching MONDO:0001172 salpingo-oophoritis skos:exactMatch UMLS:C0036133 semapv:UnspecifiedMatching MONDO:0001173 acute salpingitis skos:exactMatch DOID:10973 acute salpingitis semapv:UnspecifiedMatching MONDO:0001173 acute salpingitis skos:exactMatch ICD10CM:N70.01 Acute salpingitis semapv:UnspecifiedMatching MONDO:0001173 acute salpingitis skos:exactMatch MEDGEN:82838 semapv:UnspecifiedMatching MONDO:0001173 acute salpingitis skos:exactMatch NCIT:C40120 Acute Salpingitis semapv:UnspecifiedMatching MONDO:0001173 acute salpingitis skos:exactMatch SCTID:8912009 semapv:UnspecifiedMatching MONDO:0001173 acute salpingitis skos:exactMatch UMLS:C0269038 semapv:UnspecifiedMatching MONDO:0001173 acute salpingitis skos:exactMatch icd11.foundation:1286268784 Acute salpingitis semapv:UnspecifiedMatching MONDO:0001174 conjunctival vascular disorder skos:exactMatch DOID:10989 conjunctival vascular disease semapv:UnspecifiedMatching MONDO:0001174 conjunctival vascular disorder skos:exactMatch ICD10CM:H11.41 Vascular abnormalities of conjunctiva semapv:UnspecifiedMatching MONDO:0001174 conjunctival vascular disorder skos:exactMatch MEDGEN:12052 semapv:UnspecifiedMatching MONDO:0001174 conjunctival vascular disorder skos:exactMatch NCIT:C35116 Conjunctival Vascular Disorder semapv:UnspecifiedMatching MONDO:0001174 conjunctival vascular disorder skos:exactMatch SCTID:74100001 semapv:UnspecifiedMatching MONDO:0001174 conjunctival vascular disorder skos:exactMatch UMLS:C0042370 semapv:UnspecifiedMatching MONDO:0001175 immature cataract skos:exactMatch DOID:10997 immature cataract semapv:UnspecifiedMatching MONDO:0001175 immature cataract skos:exactMatch MEDGEN:755282 semapv:UnspecifiedMatching MONDO:0001175 immature cataract skos:exactMatch SCTID:446474007 semapv:UnspecifiedMatching MONDO:0001175 immature cataract skos:exactMatch UMLS:C2960113 semapv:UnspecifiedMatching MONDO:0001175 immature cataract skos:exactMatch icd11.foundation:1444156961 Immature cataract semapv:UnspecifiedMatching MONDO:0001176 lens disorder skos:exactMatch DOID:110 lens disease semapv:UnspecifiedMatching MONDO:0001176 lens disorder skos:exactMatch EFO:0009674 semapv:UnspecifiedMatching MONDO:0001176 lens disorder skos:exactMatch ICD10CM:H25-H28 Disorders of lens (H25-H28) semapv:UnspecifiedMatching MONDO:0001176 lens disorder skos:exactMatch MEDGEN:892382 semapv:UnspecifiedMatching MONDO:0001176 lens disorder skos:exactMatch NCIT:C26812 Lens Disorder semapv:UnspecifiedMatching MONDO:0001176 lens disorder skos:exactMatch SCTID:10810001 semapv:UnspecifiedMatching MONDO:0001176 lens disorder skos:exactMatch UMLS:C0549651 semapv:UnspecifiedMatching MONDO:0001176 lens disorder skos:exactMatch mesh:D007905 semapv:UnspecifiedMatching MONDO:0001177 anorectal stricture skos:exactMatch DOID:11014 anorectal stricture semapv:UnspecifiedMatching MONDO:0001177 anorectal stricture skos:exactMatch MEDGEN:57619 semapv:UnspecifiedMatching MONDO:0001177 anorectal stricture skos:exactMatch SCTID:197216007 semapv:UnspecifiedMatching MONDO:0001177 anorectal stricture skos:exactMatch UMLS:C0156183 semapv:UnspecifiedMatching MONDO:0001178 pseudopterygium skos:exactMatch DOID:11028 pseudopterygium semapv:UnspecifiedMatching MONDO:0001178 pseudopterygium skos:exactMatch MEDGEN:509821 semapv:UnspecifiedMatching MONDO:0001178 pseudopterygium skos:exactMatch SCTID:66139007 semapv:UnspecifiedMatching MONDO:0001178 pseudopterygium skos:exactMatch UMLS:C0155161 semapv:UnspecifiedMatching MONDO:0001178 pseudopterygium skos:exactMatch icd11.foundation:1195759310 Pseudopterygium of conjunctiva semapv:UnspecifiedMatching MONDO:0001179 pinguecula skos:exactMatch DOID:11029 pinguecula semapv:UnspecifiedMatching MONDO:0001179 pinguecula skos:exactMatch EFO:1001824 semapv:UnspecifiedMatching MONDO:0001179 pinguecula skos:exactMatch ICD10CM:H11.15 Pinguecula semapv:UnspecifiedMatching MONDO:0001179 pinguecula skos:exactMatch MEDGEN:56273 semapv:UnspecifiedMatching MONDO:0001179 pinguecula skos:exactMatch SCTID:87614000 semapv:UnspecifiedMatching MONDO:0001179 pinguecula skos:exactMatch UMLS:C0152255 semapv:UnspecifiedMatching MONDO:0001179 pinguecula skos:exactMatch mesh:D059407 semapv:UnspecifiedMatching MONDO:0001180 bullous keratopathy skos:exactMatch DOID:11031 bullous keratopathy semapv:UnspecifiedMatching MONDO:0001180 bullous keratopathy skos:exactMatch ICD10CM:H18.1 Bullous keratopathy semapv:UnspecifiedMatching MONDO:0001180 bullous keratopathy skos:exactMatch MEDGEN:57600 semapv:UnspecifiedMatching MONDO:0001180 bullous keratopathy skos:exactMatch NCIT:C26970 Bullous Keratopathy semapv:UnspecifiedMatching MONDO:0001180 bullous keratopathy skos:exactMatch SCTID:57207003 semapv:UnspecifiedMatching MONDO:0001180 bullous keratopathy skos:exactMatch UMLS:C0155111 semapv:UnspecifiedMatching MONDO:0001180 bullous keratopathy skos:exactMatch icd11.foundation:1270454490 Bullous keratopathy semapv:UnspecifiedMatching MONDO:0001181 secondary corneal edema skos:exactMatch DOID:11032 secondary corneal edema semapv:UnspecifiedMatching MONDO:0001181 secondary corneal edema skos:exactMatch ICD10CM:H18.23 Secondary corneal edema semapv:UnspecifiedMatching MONDO:0001181 secondary corneal edema skos:exactMatch MEDGEN:509795 semapv:UnspecifiedMatching MONDO:0001181 secondary corneal edema skos:exactMatch SCTID:27536004 semapv:UnspecifiedMatching MONDO:0001181 secondary corneal edema skos:exactMatch UMLS:C0155110 semapv:UnspecifiedMatching MONDO:0001182 idiopathic corneal edema skos:exactMatch DOID:11033 idiopathic corneal edema semapv:UnspecifiedMatching MONDO:0001182 idiopathic corneal edema skos:exactMatch ICD10CM:H18.22 Idiopathic corneal edema semapv:UnspecifiedMatching MONDO:0001182 idiopathic corneal edema skos:exactMatch MEDGEN:509794 semapv:UnspecifiedMatching MONDO:0001182 idiopathic corneal edema skos:exactMatch SCTID:1794009 semapv:UnspecifiedMatching MONDO:0001182 idiopathic corneal edema skos:exactMatch UMLS:C0155109 semapv:UnspecifiedMatching MONDO:0001183 contact lens corneal edema skos:exactMatch DOID:11034 contact lens corneal edema semapv:UnspecifiedMatching MONDO:0001183 contact lens corneal edema skos:exactMatch MEDGEN:633950 semapv:UnspecifiedMatching MONDO:0001183 contact lens corneal edema skos:exactMatch SCTID:49362009 semapv:UnspecifiedMatching MONDO:0001183 contact lens corneal edema skos:exactMatch UMLS:C0474442 semapv:UnspecifiedMatching MONDO:0001184 chronic rapidly progressive glomerulonephritis skos:exactMatch DOID:11036 chronic rapidly progressive glomerulonephritis semapv:UnspecifiedMatching MONDO:0001184 chronic rapidly progressive glomerulonephritis skos:exactMatch MEDGEN:574584 semapv:UnspecifiedMatching MONDO:0001184 chronic rapidly progressive glomerulonephritis skos:exactMatch SCTID:197614002 semapv:UnspecifiedMatching MONDO:0001184 chronic rapidly progressive glomerulonephritis skos:exactMatch UMLS:C0341694 semapv:UnspecifiedMatching MONDO:0001185 dissociative amnesia skos:exactMatch DOID:11037 dissociative amnesia semapv:UnspecifiedMatching MONDO:0001185 dissociative amnesia skos:exactMatch ICD10CM:F44.0 Dissociative amnesia semapv:UnspecifiedMatching MONDO:0001185 dissociative amnesia skos:exactMatch MEDGEN:66743 semapv:UnspecifiedMatching MONDO:0001185 dissociative amnesia skos:exactMatch NCIT:C94328 Dissociative Amnesia semapv:UnspecifiedMatching MONDO:0001185 dissociative amnesia skos:exactMatch SCTID:84209002 semapv:UnspecifiedMatching MONDO:0001185 dissociative amnesia skos:exactMatch UMLS:C0236795 semapv:UnspecifiedMatching MONDO:0001185 dissociative amnesia skos:exactMatch icd11.foundation:626975732 Dissociative amnesia semapv:UnspecifiedMatching MONDO:0001186 depersonalization disorder skos:exactMatch DOID:11038 depersonalization disorder semapv:UnspecifiedMatching MONDO:0001186 depersonalization disorder skos:exactMatch MEDGEN:151919 semapv:UnspecifiedMatching MONDO:0001186 depersonalization disorder skos:exactMatch NCIT:C94331 Depersonalization Disorder semapv:UnspecifiedMatching MONDO:0001186 depersonalization disorder skos:exactMatch SCTID:70764005 semapv:UnspecifiedMatching MONDO:0001186 depersonalization disorder skos:exactMatch UMLS:C0683416 semapv:UnspecifiedMatching MONDO:0001187 urinary bladder cancer skos:exactMatch DOID:11054 urinary bladder cancer semapv:UnspecifiedMatching MONDO:0001187 urinary bladder cancer skos:exactMatch ICD10CM:C67 Malignant neoplasm of bladder semapv:UnspecifiedMatching MONDO:0001187 urinary bladder cancer skos:exactMatch MEDGEN:14150 semapv:UnspecifiedMatching MONDO:0001187 urinary bladder cancer skos:exactMatch NCIT:C9334 Malignant Bladder Neoplasm semapv:UnspecifiedMatching MONDO:0001187 urinary bladder cancer skos:exactMatch OMIM:109800 bladder cancer semapv:UnspecifiedMatching MONDO:0001187 urinary bladder cancer skos:exactMatch SCTID:399326009 semapv:UnspecifiedMatching MONDO:0001187 urinary bladder cancer skos:exactMatch UMLS:C0005684 semapv:UnspecifiedMatching MONDO:0001187 urinary bladder cancer skos:exactMatch icd11.foundation:1244512758 Malignant neoplasms of bladder semapv:UnspecifiedMatching MONDO:0001188 esophagus lymphoma skos:exactMatch DOID:1106 esophagus lymphoma semapv:UnspecifiedMatching MONDO:0001188 esophagus lymphoma skos:exactMatch MEDGEN:234231 semapv:UnspecifiedMatching MONDO:0001188 esophagus lymphoma skos:exactMatch NCIT:C5687 Esophageal Lymphoma semapv:UnspecifiedMatching MONDO:0001188 esophagus lymphoma skos:exactMatch UMLS:C1333459 semapv:UnspecifiedMatching MONDO:0001188 esophagus lymphoma skos:exactMatch icd11.foundation:223819380 Lymphoma of oesophagus semapv:UnspecifiedMatching MONDO:0001190 Brucella suis brucellosis skos:exactMatch DOID:11076 Brucella suis brucellosis semapv:UnspecifiedMatching MONDO:0001190 Brucella suis brucellosis skos:exactMatch MEDGEN:546685 semapv:UnspecifiedMatching MONDO:0001190 Brucella suis brucellosis skos:exactMatch UMLS:C0275594 semapv:UnspecifiedMatching MONDO:0001191 hirudiniasis skos:exactMatch DOID:11079 leech infestation semapv:UnspecifiedMatching MONDO:0001191 hirudiniasis skos:exactMatch MEDGEN:507813 semapv:UnspecifiedMatching MONDO:0001191 hirudiniasis skos:exactMatch SCTID:64351000 semapv:UnspecifiedMatching MONDO:0001191 hirudiniasis skos:exactMatch UMLS:C0019575 semapv:UnspecifiedMatching MONDO:0001191 hirudiniasis skos:exactMatch icd11.foundation:1968026753 Infestation by Hirudo semapv:UnspecifiedMatching MONDO:0001192 esophageal melanoma skos:exactMatch DOID:1108 esophagus melanoma semapv:UnspecifiedMatching MONDO:0001192 esophageal melanoma skos:exactMatch MEDGEN:272590 semapv:UnspecifiedMatching MONDO:0001192 esophageal melanoma skos:exactMatch NCIT:C5707 Esophageal Melanoma semapv:UnspecifiedMatching MONDO:0001192 esophageal melanoma skos:exactMatch UMLS:C1333460 semapv:UnspecifiedMatching MONDO:0001192 esophageal melanoma skos:exactMatch icd11.foundation:1371529838 Melanoma of oesophagus semapv:UnspecifiedMatching MONDO:0001193 obsolete chorioretinal scar skos:exactMatch DOID:11086 chorioretinal scar semapv:UnspecifiedMatching MONDO:0001193 obsolete chorioretinal scar skos:exactMatch SCTID:53854005 semapv:UnspecifiedMatching MONDO:0001195 spotted fever skos:exactMatch DOID:11104 spotted fever semapv:UnspecifiedMatching MONDO:0001195 spotted fever skos:exactMatch EFO:1002047 semapv:UnspecifiedMatching MONDO:0001195 spotted fever skos:exactMatch ICD10CM:A77 Spotted fever [tick-borne rickettsioses] semapv:UnspecifiedMatching MONDO:0001195 spotted fever skos:exactMatch MEDGEN:1826170 semapv:UnspecifiedMatching MONDO:0001195 spotted fever skos:exactMatch Orphanet:102022 Spotted fever rickettsiosis semapv:UnspecifiedMatching MONDO:0001195 spotted fever skos:exactMatch SCTID:186771002 semapv:UnspecifiedMatching MONDO:0001195 spotted fever skos:exactMatch UMLS:C5680374 semapv:UnspecifiedMatching MONDO:0001195 spotted fever skos:exactMatch icd11.foundation:9953620 Spotted fever semapv:UnspecifiedMatching MONDO:0001196 psychologic dyspareunia skos:exactMatch DOID:11120 psychologic dyspareunia semapv:UnspecifiedMatching MONDO:0001196 psychologic dyspareunia skos:exactMatch MEDGEN:509600 semapv:UnspecifiedMatching MONDO:0001196 psychologic dyspareunia skos:exactMatch SCTID:41021005 semapv:UnspecifiedMatching MONDO:0001196 psychologic dyspareunia skos:exactMatch UMLS:C0154466 semapv:UnspecifiedMatching MONDO:0001196 psychologic dyspareunia skos:exactMatch mesh:D004414 semapv:UnspecifiedMatching MONDO:0001197 qualitative platelet defect skos:exactMatch DOID:11125 qualitative platelet defect semapv:UnspecifiedMatching MONDO:0001197 qualitative platelet defect skos:exactMatch MEDGEN:536418 semapv:UnspecifiedMatching MONDO:0001197 qualitative platelet defect skos:exactMatch SCTID:267532001 semapv:UnspecifiedMatching MONDO:0001197 qualitative platelet defect skos:exactMatch UMLS:C0235604 semapv:UnspecifiedMatching MONDO:0001198 acquired thrombocytopenia skos:exactMatch DOID:11126 acquired thrombocytopenia semapv:UnspecifiedMatching MONDO:0001198 acquired thrombocytopenia skos:exactMatch MEDGEN:509570 semapv:UnspecifiedMatching MONDO:0001198 acquired thrombocytopenia skos:exactMatch SCTID:74576004 semapv:UnspecifiedMatching MONDO:0001198 acquired thrombocytopenia skos:exactMatch UMLS:C0154301 semapv:UnspecifiedMatching MONDO:0001198 acquired thrombocytopenia skos:exactMatch icd11.foundation:526155201 Acquired thrombocytopenia semapv:UnspecifiedMatching MONDO:0001199 dislocation of ear ossicle skos:exactMatch DOID:11129 dislocation of ear ossicle semapv:UnspecifiedMatching MONDO:0001199 dislocation of ear ossicle skos:exactMatch MEDGEN:583120 semapv:UnspecifiedMatching MONDO:0001199 dislocation of ear ossicle skos:exactMatch SCTID:87040007 semapv:UnspecifiedMatching MONDO:0001199 dislocation of ear ossicle skos:exactMatch UMLS:C0395896 semapv:UnspecifiedMatching MONDO:0001199 dislocation of ear ossicle skos:exactMatch icd11.foundation:997760203 Dislocation of ear ossicles semapv:UnspecifiedMatching MONDO:0001200 secondary hypertension skos:exactMatch DOID:11130 secondary hypertension semapv:UnspecifiedMatching MONDO:0001200 secondary hypertension skos:exactMatch EFO:1002034 semapv:UnspecifiedMatching MONDO:0001200 secondary hypertension skos:exactMatch ICD10WHO:I15 Secondary hypertension semapv:UnspecifiedMatching MONDO:0001200 secondary hypertension skos:exactMatch MEDGEN:57609 semapv:UnspecifiedMatching MONDO:0001200 secondary hypertension skos:exactMatch SCTID:31992008 semapv:UnspecifiedMatching MONDO:0001200 secondary hypertension skos:exactMatch UMLS:C0155616 semapv:UnspecifiedMatching MONDO:0001200 secondary hypertension skos:exactMatch icd11.foundation:1331849426 Secondary hypertension semapv:UnspecifiedMatching MONDO:0001202 prostatic cyst skos:exactMatch DOID:11133 prostatic cyst semapv:UnspecifiedMatching MONDO:0001202 prostatic cyst skos:exactMatch ICD10CM:N42.83 Cyst of prostate semapv:UnspecifiedMatching MONDO:0001202 prostatic cyst skos:exactMatch MEDGEN:731233 semapv:UnspecifiedMatching MONDO:0001202 prostatic cyst skos:exactMatch SCTID:409658007 semapv:UnspecifiedMatching MONDO:0001202 prostatic cyst skos:exactMatch UMLS:C1443972 semapv:UnspecifiedMatching MONDO:0001202 prostatic cyst skos:exactMatch icd11.foundation:1716279560 Cyst of prostate semapv:UnspecifiedMatching MONDO:0001203 prolapse of lacrimal gland skos:exactMatch DOID:11134 prolapse of lacrimal gland semapv:UnspecifiedMatching MONDO:0001203 prolapse of lacrimal gland skos:exactMatch MEDGEN:509860 semapv:UnspecifiedMatching MONDO:0001203 prolapse of lacrimal gland skos:exactMatch SCTID:84777002 semapv:UnspecifiedMatching MONDO:0001203 prolapse of lacrimal gland skos:exactMatch UMLS:C0155231 semapv:UnspecifiedMatching MONDO:0001204 esophagus sarcoma skos:exactMatch DOID:1114 esophagus sarcoma semapv:UnspecifiedMatching MONDO:0001204 esophagus sarcoma skos:exactMatch MEDGEN:234233 semapv:UnspecifiedMatching MONDO:0001204 esophagus sarcoma skos:exactMatch NCIT:C5341 Esophageal Sarcoma semapv:UnspecifiedMatching MONDO:0001204 esophagus sarcoma skos:exactMatch UMLS:C1333466 semapv:UnspecifiedMatching MONDO:0001205 hypersecretion glaucoma skos:exactMatch DOID:11148 hypersecretion glaucoma semapv:UnspecifiedMatching MONDO:0001205 hypersecretion glaucoma skos:exactMatch ICD10CM:H40.82 Hypersecretion glaucoma semapv:UnspecifiedMatching MONDO:0001205 hypersecretion glaucoma skos:exactMatch MEDGEN:509744 semapv:UnspecifiedMatching MONDO:0001205 hypersecretion glaucoma skos:exactMatch SCTID:29369005 semapv:UnspecifiedMatching MONDO:0001205 hypersecretion glaucoma skos:exactMatch UMLS:C0154968 semapv:UnspecifiedMatching MONDO:0001206 aqueous misdirection skos:exactMatch DOID:11149 aqueous misdirection semapv:UnspecifiedMatching MONDO:0001206 aqueous misdirection skos:exactMatch ICD10CM:H40.83 Aqueous misdirection semapv:UnspecifiedMatching MONDO:0001206 aqueous misdirection skos:exactMatch MEDGEN:1843475 semapv:UnspecifiedMatching MONDO:0001206 aqueous misdirection skos:exactMatch UMLS:C1135189 semapv:UnspecifiedMatching MONDO:0001207 neonatal respiratory failure skos:exactMatch DOID:11161 neonatal respiratory failure semapv:UnspecifiedMatching MONDO:0001207 neonatal respiratory failure skos:exactMatch ICD10CM:P28.5 Respiratory failure of newborn semapv:UnspecifiedMatching MONDO:0001207 neonatal respiratory failure skos:exactMatch MEDGEN:105483 semapv:UnspecifiedMatching MONDO:0001207 neonatal respiratory failure skos:exactMatch SCTID:95619009 semapv:UnspecifiedMatching MONDO:0001207 neonatal respiratory failure skos:exactMatch UMLS:C0521648 semapv:UnspecifiedMatching MONDO:0001208 acute respiratory failure skos:exactMatch ICD10CM:J96.0 Acute respiratory failure semapv:UnspecifiedMatching MONDO:0001208 acute respiratory failure skos:exactMatch MEDGEN:75540 semapv:UnspecifiedMatching MONDO:0001208 acute respiratory failure skos:exactMatch NCIT:C27043 Acute Respiratory Failure semapv:UnspecifiedMatching MONDO:0001208 acute respiratory failure skos:exactMatch SCTID:65710008 semapv:UnspecifiedMatching MONDO:0001208 acute respiratory failure skos:exactMatch UMLS:C0264490 semapv:UnspecifiedMatching MONDO:0001208 acute respiratory failure skos:exactMatch icd11.foundation:875272781 Acute respiratory failure semapv:UnspecifiedMatching MONDO:0001209 common wart skos:exactMatch DOID:11165 common wart semapv:UnspecifiedMatching MONDO:0001209 common wart skos:exactMatch EFO:0009662 semapv:UnspecifiedMatching MONDO:0001209 common wart skos:exactMatch ICD10CM:B07 Viral warts semapv:UnspecifiedMatching MONDO:0001209 common wart skos:exactMatch MEDGEN:777120 semapv:UnspecifiedMatching MONDO:0001209 common wart skos:exactMatch NCIT:C27087 Verruca Vulgaris semapv:UnspecifiedMatching MONDO:0001209 common wart skos:exactMatch SCTID:57019003 semapv:UnspecifiedMatching MONDO:0001209 common wart skos:exactMatch UMLS:C3665596 semapv:UnspecifiedMatching MONDO:0001209 common wart skos:exactMatch icd11.foundation:1074706780 Common warts semapv:UnspecifiedMatching MONDO:0001209 common wart skos:exactMatch mesh:D014860 semapv:UnspecifiedMatching MONDO:0001210 enophthalmos skos:exactMatch DOID:11175 enophthalmos semapv:UnspecifiedMatching MONDO:0001210 enophthalmos skos:exactMatch ICD10CM:H05.4 Enophthalmos semapv:UnspecifiedMatching MONDO:0001210 enophthalmos skos:exactMatch MEDGEN:473112 semapv:UnspecifiedMatching MONDO:0001210 enophthalmos skos:exactMatch SCTID:80093006 semapv:UnspecifiedMatching MONDO:0001210 enophthalmos skos:exactMatch UMLS:C0423224 semapv:UnspecifiedMatching MONDO:0001210 enophthalmos skos:exactMatch icd11.foundation:1783631381 Inward displacement of eyeball semapv:UnspecifiedMatching MONDO:0001210 enophthalmos skos:exactMatch mesh:D015841 semapv:UnspecifiedMatching MONDO:0001211 total internal ophthalmoplegia skos:exactMatch DOID:11177 total internal ophthalmoplegia semapv:UnspecifiedMatching MONDO:0001211 total internal ophthalmoplegia skos:exactMatch MEDGEN:508924 semapv:UnspecifiedMatching MONDO:0001211 total internal ophthalmoplegia skos:exactMatch SCTID:86266009 semapv:UnspecifiedMatching MONDO:0001211 total internal ophthalmoplegia skos:exactMatch UMLS:C0152197 semapv:UnspecifiedMatching MONDO:0001212 non-suppurative otitis media skos:exactMatch DOID:11180 non-suppurative otitis media semapv:UnspecifiedMatching MONDO:0001212 non-suppurative otitis media skos:exactMatch ICD10CM:H65 Nonsuppurative otitis media semapv:UnspecifiedMatching MONDO:0001212 non-suppurative otitis media skos:exactMatch MEDGEN:543351 semapv:UnspecifiedMatching MONDO:0001212 non-suppurative otitis media skos:exactMatch SCTID:275481002 semapv:UnspecifiedMatching MONDO:0001212 non-suppurative otitis media skos:exactMatch UMLS:C0271446 semapv:UnspecifiedMatching MONDO:0001212 non-suppurative otitis media skos:exactMatch icd11.foundation:800153181 Nonsuppurative otitis media semapv:UnspecifiedMatching MONDO:0001213 serous glue ear skos:exactMatch DOID:11181 serous glue ear semapv:UnspecifiedMatching MONDO:0001213 serous glue ear skos:exactMatch ICD10CM:H65.2 Chronic serous otitis media semapv:UnspecifiedMatching MONDO:0001213 serous glue ear skos:exactMatch MEDGEN:509959 semapv:UnspecifiedMatching MONDO:0001213 serous glue ear skos:exactMatch SCTID:81564005 semapv:UnspecifiedMatching MONDO:0001213 serous glue ear skos:exactMatch UMLS:C0155421 semapv:UnspecifiedMatching MONDO:0001214 acute conjunctivitis skos:exactMatch DOID:11184 acute conjunctivitis semapv:UnspecifiedMatching MONDO:0001214 acute conjunctivitis skos:exactMatch MEDGEN:57829 semapv:UnspecifiedMatching MONDO:0001214 acute conjunctivitis skos:exactMatch NCIT:C35195 Acute Conjunctivitis semapv:UnspecifiedMatching MONDO:0001214 acute conjunctivitis skos:exactMatch SCTID:53726008 semapv:UnspecifiedMatching MONDO:0001214 acute conjunctivitis skos:exactMatch UMLS:C0155141 semapv:UnspecifiedMatching MONDO:0001215 allescheriosis skos:exactMatch DOID:11186 allescheriosis semapv:UnspecifiedMatching MONDO:0001215 allescheriosis skos:exactMatch MEDGEN:547506 semapv:UnspecifiedMatching MONDO:0001215 allescheriosis skos:exactMatch SCTID:80936003 semapv:UnspecifiedMatching MONDO:0001215 allescheriosis skos:exactMatch UMLS:C0276706 semapv:UnspecifiedMatching MONDO:0001216 pulp degeneration skos:exactMatch DOID:11189 pulp degeneration semapv:UnspecifiedMatching MONDO:0001216 pulp degeneration skos:exactMatch ICD10CM:K04.2 Pulp degeneration semapv:UnspecifiedMatching MONDO:0001216 pulp degeneration skos:exactMatch MEDGEN:19578 semapv:UnspecifiedMatching MONDO:0001216 pulp degeneration skos:exactMatch SCTID:22361007 semapv:UnspecifiedMatching MONDO:0001216 pulp degeneration skos:exactMatch UMLS:C0034100 semapv:UnspecifiedMatching MONDO:0001216 pulp degeneration skos:exactMatch icd11.foundation:868011012 Pulp degeneration semapv:UnspecifiedMatching MONDO:0001217 pseudomembranous conjunctivitis skos:exactMatch DOID:11190 pseudomembranous conjunctivitis semapv:UnspecifiedMatching MONDO:0001217 pseudomembranous conjunctivitis skos:exactMatch ICD10CM:H10.22 Pseudomembranous conjunctivitis semapv:UnspecifiedMatching MONDO:0001217 pseudomembranous conjunctivitis skos:exactMatch MEDGEN:102325 semapv:UnspecifiedMatching MONDO:0001217 pseudomembranous conjunctivitis skos:exactMatch NCIT:C35196 Pseudomembranous Conjunctivitis semapv:UnspecifiedMatching MONDO:0001217 pseudomembranous conjunctivitis skos:exactMatch SCTID:72115001 semapv:UnspecifiedMatching MONDO:0001217 pseudomembranous conjunctivitis skos:exactMatch UMLS:C0155144 semapv:UnspecifiedMatching MONDO:0001217 pseudomembranous conjunctivitis skos:exactMatch icd11.foundation:1606516539 Pseudomembranous conjunctivitis semapv:UnspecifiedMatching MONDO:0001218 acute laryngopharyngitis skos:exactMatch DOID:11195 acute laryngopharyngitis semapv:UnspecifiedMatching MONDO:0001218 acute laryngopharyngitis skos:exactMatch ICD10CM:J06.0 Acute laryngopharyngitis semapv:UnspecifiedMatching MONDO:0001218 acute laryngopharyngitis skos:exactMatch MEDGEN:510095 semapv:UnspecifiedMatching MONDO:0001218 acute laryngopharyngitis skos:exactMatch SCTID:55355000 semapv:UnspecifiedMatching MONDO:0001218 acute laryngopharyngitis skos:exactMatch UMLS:C0155817 semapv:UnspecifiedMatching MONDO:0001218 acute laryngopharyngitis skos:exactMatch icd11.foundation:1528782604 Acute laryngopharyngitis semapv:UnspecifiedMatching MONDO:0001219 serous conjunctivitis except viral skos:exactMatch DOID:11197 serous conjunctivitis except viral semapv:UnspecifiedMatching MONDO:0001219 serous conjunctivitis except viral skos:exactMatch ICD10CM:H10.23 Serous conjunctivitis, except viral semapv:UnspecifiedMatching MONDO:0001219 serous conjunctivitis except viral skos:exactMatch MEDGEN:509805 semapv:UnspecifiedMatching MONDO:0001219 serous conjunctivitis except viral skos:exactMatch SCTID:9824006 semapv:UnspecifiedMatching MONDO:0001219 serous conjunctivitis except viral skos:exactMatch UMLS:C0155142 semapv:UnspecifiedMatching MONDO:0001219 serous conjunctivitis except viral skos:exactMatch icd11.foundation:982168239 Serous conjunctivitis, except viral semapv:UnspecifiedMatching MONDO:0001220 hypoparathyroidism skos:exactMatch DOID:11199 hypoparathyroidism semapv:UnspecifiedMatching MONDO:0001220 hypoparathyroidism skos:exactMatch EFO:0009451 semapv:UnspecifiedMatching MONDO:0001220 hypoparathyroidism skos:exactMatch ICD10CM:E20 Hypoparathyroidism semapv:UnspecifiedMatching MONDO:0001220 hypoparathyroidism skos:exactMatch ICD10WHO:E20 Hypoparathyroidism semapv:UnspecifiedMatching MONDO:0001220 hypoparathyroidism skos:exactMatch MEDGEN:6985 semapv:UnspecifiedMatching MONDO:0001220 hypoparathyroidism skos:exactMatch NCIT:C78350 Hypoparathyroidism semapv:UnspecifiedMatching MONDO:0001220 hypoparathyroidism skos:exactMatch SCTID:36976004 semapv:UnspecifiedMatching MONDO:0001220 hypoparathyroidism skos:exactMatch UMLS:C0020626 semapv:UnspecifiedMatching MONDO:0001220 hypoparathyroidism skos:exactMatch icd11.foundation:1708733050 Hypoparathyroidism semapv:UnspecifiedMatching MONDO:0001220 hypoparathyroidism skos:exactMatch mesh:D007011 semapv:UnspecifiedMatching MONDO:0001221 esophageal varices skos:exactMatch DOID:112 esophageal varix semapv:UnspecifiedMatching MONDO:0001221 esophageal varices skos:exactMatch EFO:0009545 semapv:UnspecifiedMatching MONDO:0001221 esophageal varices skos:exactMatch ICD10CM:I85 Esophageal varices semapv:UnspecifiedMatching MONDO:0001221 esophageal varices skos:exactMatch ICD10CM:I85.0 Esophageal varices semapv:UnspecifiedMatching MONDO:0001221 esophageal varices skos:exactMatch MEDGEN:5027 semapv:UnspecifiedMatching MONDO:0001221 esophageal varices skos:exactMatch NCIT:C53506 Esophageal Varices semapv:UnspecifiedMatching MONDO:0001221 esophageal varices skos:exactMatch SCTID:28670008 semapv:UnspecifiedMatching MONDO:0001221 esophageal varices skos:exactMatch UMLS:C0014867 semapv:UnspecifiedMatching MONDO:0001221 esophageal varices skos:exactMatch mesh:D004932 semapv:UnspecifiedMatching MONDO:0001222 congenital T-cell immunodeficiency skos:exactMatch DOID:11200 T cell deficiency semapv:UnspecifiedMatching MONDO:0001222 congenital T-cell immunodeficiency skos:exactMatch MEDGEN:232099 semapv:UnspecifiedMatching MONDO:0001222 congenital T-cell immunodeficiency skos:exactMatch NCIT:C27872 Congenital T-Cell Immunodeficiency semapv:UnspecifiedMatching MONDO:0001222 congenital T-cell immunodeficiency skos:exactMatch UMLS:C1333147 semapv:UnspecifiedMatching MONDO:0001223 parathyroid gland disorder skos:exactMatch DOID:11201 parathyroid gland disease semapv:UnspecifiedMatching MONDO:0001223 parathyroid gland disorder skos:exactMatch EFO:0005754 semapv:UnspecifiedMatching MONDO:0001223 parathyroid gland disorder skos:exactMatch MEDGEN:893009 semapv:UnspecifiedMatching MONDO:0001223 parathyroid gland disorder skos:exactMatch NCIT:C26844 Parathyroid Gland Disorder semapv:UnspecifiedMatching MONDO:0001223 parathyroid gland disorder skos:exactMatch SCTID:73132005 semapv:UnspecifiedMatching MONDO:0001223 parathyroid gland disorder skos:exactMatch UMLS:C4025822 semapv:UnspecifiedMatching MONDO:0001223 parathyroid gland disorder skos:exactMatch icd11.foundation:962023213 Disorders of the parathyroids or parathyroid hormone system semapv:UnspecifiedMatching MONDO:0001223 parathyroid gland disorder skos:exactMatch mesh:D010279 semapv:UnspecifiedMatching MONDO:0001224 Angelucci syndrome skos:exactMatch DOID:11203 Angelucci's syndrome semapv:UnspecifiedMatching MONDO:0001224 Angelucci syndrome skos:exactMatch ICD10CM:H10.1 Acute atopic conjunctivitis semapv:UnspecifiedMatching MONDO:0001224 Angelucci syndrome skos:exactMatch MEDGEN:1316 semapv:UnspecifiedMatching MONDO:0001224 Angelucci syndrome skos:exactMatch NCIT:C34353 Acute Atopic Conjunctivitis semapv:UnspecifiedMatching MONDO:0001224 Angelucci syndrome skos:exactMatch SCTID:67678004 semapv:UnspecifiedMatching MONDO:0001224 Angelucci syndrome skos:exactMatch UMLS:C0001309 semapv:UnspecifiedMatching MONDO:0001224 Angelucci syndrome skos:exactMatch icd11.foundation:1044658726 Acute atopic conjunctivitis semapv:UnspecifiedMatching MONDO:0001225 opioid abuse skos:exactMatch DOID:11206 opioid abuse semapv:UnspecifiedMatching MONDO:0001225 opioid abuse skos:exactMatch ICD10CM:F11.1 Opioid abuse semapv:UnspecifiedMatching MONDO:0001225 opioid abuse skos:exactMatch MEDGEN:508001 semapv:UnspecifiedMatching MONDO:0001225 opioid abuse skos:exactMatch SCTID:5602001 semapv:UnspecifiedMatching MONDO:0001225 opioid abuse skos:exactMatch UMLS:C0029095 semapv:UnspecifiedMatching MONDO:0001225 opioid abuse skos:exactMatch icd11.foundation:912365674 Harmful pattern of use of opioids semapv:UnspecifiedMatching MONDO:0001226 acute contagious conjunctivitis skos:exactMatch DOID:11213 acute contagious conjunctivitis semapv:UnspecifiedMatching MONDO:0001226 acute contagious conjunctivitis skos:exactMatch MEDGEN:272038 semapv:UnspecifiedMatching MONDO:0001226 acute contagious conjunctivitis skos:exactMatch NCIT:C35704 Acute Contagious Conjunctivitis semapv:UnspecifiedMatching MONDO:0001226 acute contagious conjunctivitis skos:exactMatch SCTID:399219006 semapv:UnspecifiedMatching MONDO:0001226 acute contagious conjunctivitis skos:exactMatch UMLS:C1313983 semapv:UnspecifiedMatching MONDO:0001227 chronic tympanitis skos:exactMatch DOID:11217 chronic tympanitis semapv:UnspecifiedMatching MONDO:0001227 chronic tympanitis skos:exactMatch ICD10CM:H73.1 Chronic myringitis semapv:UnspecifiedMatching MONDO:0001227 chronic tympanitis skos:exactMatch MEDGEN:583089 semapv:UnspecifiedMatching MONDO:0001227 chronic tympanitis skos:exactMatch SCTID:89723004 semapv:UnspecifiedMatching MONDO:0001227 chronic tympanitis skos:exactMatch UMLS:C0395849 semapv:UnspecifiedMatching MONDO:0001227 chronic tympanitis skos:exactMatch icd11.foundation:1604276412 Chronic myringitis semapv:UnspecifiedMatching MONDO:0001228 conjunctival folliculosis skos:exactMatch DOID:11219 conjunctival folliculosis semapv:UnspecifiedMatching MONDO:0001228 conjunctival folliculosis skos:exactMatch ICD10CM:H10.01 Acute follicular conjunctivitis semapv:UnspecifiedMatching MONDO:0001228 conjunctival folliculosis skos:exactMatch MEDGEN:509806 semapv:UnspecifiedMatching MONDO:0001228 conjunctival folliculosis skos:exactMatch SCTID:41308008 semapv:UnspecifiedMatching MONDO:0001228 conjunctival folliculosis skos:exactMatch UMLS:C0155143 semapv:UnspecifiedMatching MONDO:0001229 small intestine diverticulitis skos:exactMatch DOID:11223 small intestine diverticulitis semapv:UnspecifiedMatching MONDO:0001229 small intestine diverticulitis skos:exactMatch MEDGEN:540732 semapv:UnspecifiedMatching MONDO:0001229 small intestine diverticulitis skos:exactMatch SCTID:56165008 semapv:UnspecifiedMatching MONDO:0001229 small intestine diverticulitis skos:exactMatch UMLS:C0267502 semapv:UnspecifiedMatching MONDO:0001229 small intestine diverticulitis skos:exactMatch icd11.foundation:1351188281 Diverticulitis of small intestine semapv:UnspecifiedMatching MONDO:0001230 acute orbital inflammation skos:exactMatch DOID:11230 acute orbital inflammation semapv:UnspecifiedMatching MONDO:0001230 acute orbital inflammation skos:exactMatch ICD10CM:H05.0 Acute inflammation of orbit semapv:UnspecifiedMatching MONDO:0001230 acute orbital inflammation skos:exactMatch MEDGEN:509876 semapv:UnspecifiedMatching MONDO:0001230 acute orbital inflammation skos:exactMatch SCTID:20551005 semapv:UnspecifiedMatching MONDO:0001230 acute orbital inflammation skos:exactMatch UMLS:C0155256 semapv:UnspecifiedMatching MONDO:0001230 acute orbital inflammation skos:exactMatch icd11.foundation:1830014336 Acute inflammation of orbit semapv:UnspecifiedMatching MONDO:0001231 orbital periostitis skos:exactMatch DOID:11231 orbital periostitis semapv:UnspecifiedMatching MONDO:0001231 orbital periostitis skos:exactMatch MEDGEN:509877 semapv:UnspecifiedMatching MONDO:0001231 orbital periostitis skos:exactMatch SCTID:65974003 semapv:UnspecifiedMatching MONDO:0001231 orbital periostitis skos:exactMatch UMLS:C0155257 semapv:UnspecifiedMatching MONDO:0001231 orbital periostitis skos:exactMatch icd11.foundation:1589056590 Periostitis of orbit semapv:UnspecifiedMatching MONDO:0001232 orbital osteomyelitis skos:exactMatch DOID:11232 orbital osteomyelitis semapv:UnspecifiedMatching MONDO:0001232 orbital osteomyelitis skos:exactMatch MEDGEN:509878 semapv:UnspecifiedMatching MONDO:0001232 orbital osteomyelitis skos:exactMatch SCTID:65875003 semapv:UnspecifiedMatching MONDO:0001232 orbital osteomyelitis skos:exactMatch UMLS:C0155258 semapv:UnspecifiedMatching MONDO:0001232 orbital osteomyelitis skos:exactMatch icd11.foundation:1006426584 Osteomyelitis of orbit semapv:UnspecifiedMatching MONDO:0001233 orbital tenonitis skos:exactMatch DOID:11233 orbital tenonitis semapv:UnspecifiedMatching MONDO:0001233 orbital tenonitis skos:exactMatch MEDGEN:509879 semapv:UnspecifiedMatching MONDO:0001233 orbital tenonitis skos:exactMatch SCTID:8976003 semapv:UnspecifiedMatching MONDO:0001233 orbital tenonitis skos:exactMatch UMLS:C0155259 semapv:UnspecifiedMatching MONDO:0001234 adhesive otitis media skos:exactMatch DOID:11235 adhesive otitis media semapv:UnspecifiedMatching MONDO:0001234 adhesive otitis media skos:exactMatch ICD10CM:H74.1 Adhesive middle ear disease semapv:UnspecifiedMatching MONDO:0001234 adhesive otitis media skos:exactMatch MEDGEN:509984 semapv:UnspecifiedMatching MONDO:0001234 adhesive otitis media skos:exactMatch SCTID:7699004 semapv:UnspecifiedMatching MONDO:0001234 adhesive otitis media skos:exactMatch UMLS:C0155478 semapv:UnspecifiedMatching MONDO:0001234 adhesive otitis media skos:exactMatch icd11.foundation:1692803582 Adhesive middle ear disease semapv:UnspecifiedMatching MONDO:0001235 appendix cancer skos:exactMatch DOID:11239 appendix cancer semapv:UnspecifiedMatching MONDO:0001235 appendix cancer skos:exactMatch ICD10CM:C18.1 Malignant neoplasm of appendix semapv:UnspecifiedMatching MONDO:0001235 appendix cancer skos:exactMatch MEDGEN:141676 semapv:UnspecifiedMatching MONDO:0001235 appendix cancer skos:exactMatch NCIT:C9333 Malignant Appendix Neoplasm semapv:UnspecifiedMatching MONDO:0001235 appendix cancer skos:exactMatch SCTID:363411007 semapv:UnspecifiedMatching MONDO:0001235 appendix cancer skos:exactMatch UMLS:C0496779 semapv:UnspecifiedMatching MONDO:0001235 appendix cancer skos:exactMatch icd11.foundation:1892026854 Malignant neoplasms of appendix semapv:UnspecifiedMatching MONDO:0001236 appendiceal neoplasm skos:exactMatch DOID:11240 appendiceal neoplasm semapv:UnspecifiedMatching MONDO:0001236 appendiceal neoplasm skos:exactMatch EFO:0003880 semapv:UnspecifiedMatching MONDO:0001236 appendiceal neoplasm skos:exactMatch MEDGEN:1629 semapv:UnspecifiedMatching MONDO:0001236 appendiceal neoplasm skos:exactMatch NCIT:C4434 Appendix Neoplasm semapv:UnspecifiedMatching MONDO:0001236 appendiceal neoplasm skos:exactMatch SCTID:126846004 semapv:UnspecifiedMatching MONDO:0001236 appendiceal neoplasm skos:exactMatch UMLS:C0003614 semapv:UnspecifiedMatching MONDO:0001236 appendiceal neoplasm skos:exactMatch mesh:D001063 semapv:UnspecifiedMatching MONDO:0001237 appendix lymphoma skos:exactMatch DOID:11241 appendix lymphoma semapv:UnspecifiedMatching MONDO:0001237 appendix lymphoma skos:exactMatch MEDGEN:231078 semapv:UnspecifiedMatching MONDO:0001237 appendix lymphoma skos:exactMatch NCIT:C5513 Appendix Lymphoma semapv:UnspecifiedMatching MONDO:0001237 appendix lymphoma skos:exactMatch UMLS:C1332328 semapv:UnspecifiedMatching MONDO:0001237 appendix lymphoma skos:exactMatch icd11.foundation:1666837877 Lymphoma of the appendix semapv:UnspecifiedMatching MONDO:0001238 polycythemia neonatorum skos:exactMatch DOID:11242 plethora of newborn semapv:UnspecifiedMatching MONDO:0001238 polycythemia neonatorum skos:exactMatch ICD10CM:P61.1 Polycythemia neonatorum semapv:UnspecifiedMatching MONDO:0001238 polycythemia neonatorum skos:exactMatch MEDGEN:78794 semapv:UnspecifiedMatching MONDO:0001238 polycythemia neonatorum skos:exactMatch NCIT:C27069 Polycythemia Neonatorum semapv:UnspecifiedMatching MONDO:0001238 polycythemia neonatorum skos:exactMatch SCTID:32984002 semapv:UnspecifiedMatching MONDO:0001238 polycythemia neonatorum skos:exactMatch UMLS:C0272153 semapv:UnspecifiedMatching MONDO:0001239 anemia of prematurity skos:exactMatch DOID:11243 anemia of prematurity semapv:UnspecifiedMatching MONDO:0001239 anemia of prematurity skos:exactMatch ICD10CM:P61.2 Anemia of prematurity semapv:UnspecifiedMatching MONDO:0001239 anemia of prematurity skos:exactMatch MEDGEN:472907 semapv:UnspecifiedMatching MONDO:0001239 anemia of prematurity skos:exactMatch NCIT:C97167 Anemia of Prematurity semapv:UnspecifiedMatching MONDO:0001239 anemia of prematurity skos:exactMatch SCTID:47100003 semapv:UnspecifiedMatching MONDO:0001239 anemia of prematurity skos:exactMatch UMLS:C0158996 semapv:UnspecifiedMatching MONDO:0001240 neonatal anemia skos:exactMatch DOID:11244 neonatal anemia semapv:UnspecifiedMatching MONDO:0001240 neonatal anemia skos:exactMatch MEDGEN:1530 semapv:UnspecifiedMatching MONDO:0001240 neonatal anemia skos:exactMatch SCTID:234350007 semapv:UnspecifiedMatching MONDO:0001240 neonatal anemia skos:exactMatch UMLS:C0002891 semapv:UnspecifiedMatching MONDO:0001240 neonatal anemia skos:exactMatch mesh:D000751 semapv:UnspecifiedMatching MONDO:0001241 transient neonatal neutropenia skos:exactMatch DOID:11245 transient neonatal neutropenia semapv:UnspecifiedMatching MONDO:0001241 transient neonatal neutropenia skos:exactMatch ICD10CM:P61.5 Transient neonatal neutropenia semapv:UnspecifiedMatching MONDO:0001241 transient neonatal neutropenia skos:exactMatch MEDGEN:510688 semapv:UnspecifiedMatching MONDO:0001241 transient neonatal neutropenia skos:exactMatch SCTID:55444004 semapv:UnspecifiedMatching MONDO:0001241 transient neonatal neutropenia skos:exactMatch UMLS:C0158997 semapv:UnspecifiedMatching MONDO:0001242 disseminated intravascular coagulation in newborn skos:exactMatch DOID:11246 DIC in newborn semapv:UnspecifiedMatching MONDO:0001242 disseminated intravascular coagulation in newborn skos:exactMatch MEDGEN:510687 semapv:UnspecifiedMatching MONDO:0001242 disseminated intravascular coagulation in newborn skos:exactMatch NCIT:C111856 Disseminated Intravascular Coagulation in Newborn semapv:UnspecifiedMatching MONDO:0001242 disseminated intravascular coagulation in newborn skos:exactMatch SCTID:34417008 semapv:UnspecifiedMatching MONDO:0001242 disseminated intravascular coagulation in newborn skos:exactMatch UMLS:C0158992 semapv:UnspecifiedMatching MONDO:0001243 disseminated intravascular coagulation skos:exactMatch DOID:11247 disseminated intravascular coagulation semapv:UnspecifiedMatching MONDO:0001243 disseminated intravascular coagulation skos:exactMatch ICD10CM:D65 Disseminated intravascular coagulation [defibrination syndrome] semapv:UnspecifiedMatching MONDO:0001243 disseminated intravascular coagulation skos:exactMatch MEDGEN:41620 semapv:UnspecifiedMatching MONDO:0001243 disseminated intravascular coagulation skos:exactMatch NCIT:C2992 Disseminated Intravascular Coagulation semapv:UnspecifiedMatching MONDO:0001243 disseminated intravascular coagulation skos:exactMatch SCTID:67406007 semapv:UnspecifiedMatching MONDO:0001243 disseminated intravascular coagulation skos:exactMatch UMLS:C0012739 semapv:UnspecifiedMatching MONDO:0001243 disseminated intravascular coagulation skos:exactMatch icd11.foundation:1622289887 Disseminated intravascular coagulation semapv:UnspecifiedMatching MONDO:0001243 disseminated intravascular coagulation skos:exactMatch mesh:D004211 semapv:UnspecifiedMatching MONDO:0001244 vitamin K deficiency hemorrhagic disease skos:exactMatch DOID:11249 vitamin K deficiency bleeding semapv:UnspecifiedMatching MONDO:0001244 vitamin K deficiency hemorrhagic disease skos:exactMatch ICD10CM:E56.1 Deficiency of vitamin K semapv:UnspecifiedMatching MONDO:0001244 vitamin K deficiency hemorrhagic disease skos:exactMatch MEDGEN:543992 semapv:UnspecifiedMatching MONDO:0001244 vitamin K deficiency hemorrhagic disease skos:exactMatch NCIT:C99108 Vitamin K Deficiency semapv:UnspecifiedMatching MONDO:0001244 vitamin K deficiency hemorrhagic disease skos:exactMatch SCTID:52675005 semapv:UnspecifiedMatching MONDO:0001244 vitamin K deficiency hemorrhagic disease skos:exactMatch UMLS:C0272348 semapv:UnspecifiedMatching MONDO:0001244 vitamin K deficiency hemorrhagic disease skos:exactMatch mesh:D014813 semapv:UnspecifiedMatching MONDO:0001245 microcytic anemia skos:exactMatch DOID:11252 microcytic anemia semapv:UnspecifiedMatching MONDO:0001245 microcytic anemia skos:exactMatch MEDGEN:1673948 semapv:UnspecifiedMatching MONDO:0001245 microcytic anemia skos:exactMatch NCIT:C35141 Microcytic Anemia semapv:UnspecifiedMatching MONDO:0001245 microcytic anemia skos:exactMatch SCTID:234349007 semapv:UnspecifiedMatching MONDO:0001245 microcytic anemia skos:exactMatch UMLS:C5194182 semapv:UnspecifiedMatching MONDO:0001245 microcytic anemia skos:exactMatch icd11.foundation:1380406043 Microcytic anemia semapv:UnspecifiedMatching MONDO:0001246 typhus skos:exactMatch DOID:11256 typhus semapv:UnspecifiedMatching MONDO:0001246 typhus skos:exactMatch EFO:0009117 semapv:UnspecifiedMatching MONDO:0001246 typhus skos:exactMatch ICD10CM:A75 Typhus fever semapv:UnspecifiedMatching MONDO:0001246 typhus skos:exactMatch MEDGEN:11976 semapv:UnspecifiedMatching MONDO:0001246 typhus skos:exactMatch Orphanet:102023 Typhus-group rickettsiosis semapv:UnspecifiedMatching MONDO:0001246 typhus skos:exactMatch SCTID:240613006 semapv:UnspecifiedMatching MONDO:0001246 typhus skos:exactMatch UMLS:C0041471 semapv:UnspecifiedMatching MONDO:0001246 typhus skos:exactMatch icd11.foundation:292650041 Typhus fever semapv:UnspecifiedMatching MONDO:0001247 social phobia skos:exactMatch DOID:11257 social phobia semapv:UnspecifiedMatching MONDO:0001247 social phobia skos:exactMatch EFO:1001917 semapv:UnspecifiedMatching MONDO:0001247 social phobia skos:exactMatch ICD10CM:F40.1 Social phobias semapv:UnspecifiedMatching MONDO:0001247 social phobia skos:exactMatch MEDGEN:19254 semapv:UnspecifiedMatching MONDO:0001247 social phobia skos:exactMatch NCIT:C34927 Social Anxiety Disorder semapv:UnspecifiedMatching MONDO:0001247 social phobia skos:exactMatch SCTID:25501002 semapv:UnspecifiedMatching MONDO:0001247 social phobia skos:exactMatch UMLS:C0031572 semapv:UnspecifiedMatching MONDO:0001247 social phobia skos:exactMatch icd11.foundation:2062286624 Social anxiety disorder semapv:UnspecifiedMatching MONDO:0001247 social phobia skos:exactMatch mesh:D000072861 semapv:UnspecifiedMatching MONDO:0001249 trachoma skos:exactMatch DOID:11265 trachoma semapv:UnspecifiedMatching MONDO:0001249 trachoma skos:exactMatch ICD10CM:A71 Trachoma semapv:UnspecifiedMatching MONDO:0001249 trachoma skos:exactMatch ICD10WHO:A71 Trachoma semapv:UnspecifiedMatching MONDO:0001249 trachoma skos:exactMatch MEDGEN:52801 semapv:UnspecifiedMatching MONDO:0001249 trachoma skos:exactMatch SCTID:2576002 semapv:UnspecifiedMatching MONDO:0001249 trachoma skos:exactMatch UMLS:C0040592 semapv:UnspecifiedMatching MONDO:0001249 trachoma skos:exactMatch icd11.foundation:372424530 Trachoma semapv:UnspecifiedMatching MONDO:0001249 trachoma skos:exactMatch mesh:D014141 semapv:UnspecifiedMatching MONDO:0001250 keratomalacia skos:exactMatch DOID:11267 keratomalacia semapv:UnspecifiedMatching MONDO:0001250 keratomalacia skos:exactMatch ICD10CM:H18.44 Keratomalacia semapv:UnspecifiedMatching MONDO:0001250 keratomalacia skos:exactMatch MEDGEN:57777 semapv:UnspecifiedMatching MONDO:0001250 keratomalacia skos:exactMatch SCTID:85149007 semapv:UnspecifiedMatching MONDO:0001250 keratomalacia skos:exactMatch UMLS:C0152455 semapv:UnspecifiedMatching MONDO:0001250 keratomalacia skos:exactMatch icd11.foundation:497316188 Keratomalacia semapv:UnspecifiedMatching MONDO:0001250 keratomalacia skos:exactMatch mesh:C536156 semapv:UnspecifiedMatching MONDO:0001251 chronic apical periodontitis skos:exactMatch DOID:11269 chronic apical periodontitis semapv:UnspecifiedMatching MONDO:0001251 chronic apical periodontitis skos:exactMatch ICD10CM:K04.5 Chronic apical periodontitis semapv:UnspecifiedMatching MONDO:0001251 chronic apical periodontitis skos:exactMatch MEDGEN:581135 semapv:UnspecifiedMatching MONDO:0001251 chronic apical periodontitis skos:exactMatch SCTID:718052004 semapv:UnspecifiedMatching MONDO:0001251 chronic apical periodontitis skos:exactMatch UMLS:C0392492 semapv:UnspecifiedMatching MONDO:0001251 chronic apical periodontitis skos:exactMatch icd11.foundation:1079140240 Chronic apical periodontitis semapv:UnspecifiedMatching MONDO:0001252 toxic multinodular goitre skos:exactMatch DOID:11277 Plummer's disease semapv:UnspecifiedMatching MONDO:0001252 toxic multinodular goitre skos:exactMatch EFO:0009191 semapv:UnspecifiedMatching MONDO:0001252 toxic multinodular goitre skos:exactMatch MEDGEN:137963 semapv:UnspecifiedMatching MONDO:0001252 toxic multinodular goitre skos:exactMatch NCIT:C35171 Toxic Nodular Goiter semapv:UnspecifiedMatching MONDO:0001252 toxic multinodular goitre skos:exactMatch SCTID:57777000 semapv:UnspecifiedMatching MONDO:0001252 toxic multinodular goitre skos:exactMatch UMLS:C0342127 semapv:UnspecifiedMatching MONDO:0001252 toxic multinodular goitre skos:exactMatch icd11.foundation:999910988 Thyrotoxicosis with toxic multinodular goitre semapv:UnspecifiedMatching MONDO:0001253 obsolete solar retinopathy skos:exactMatch DOID:11282 solar retinopathy semapv:UnspecifiedMatching MONDO:0001253 obsolete solar retinopathy skos:exactMatch SCTID:1135000 semapv:UnspecifiedMatching MONDO:0001254 obsolete peripheral scars of retina skos:exactMatch DOID:11283 peripheral scars of retina semapv:UnspecifiedMatching MONDO:0001255 ventilation pneumonitis skos:exactMatch DOID:11289 ventilation pneumonitis semapv:UnspecifiedMatching MONDO:0001255 ventilation pneumonitis skos:exactMatch MEDGEN:510127 semapv:UnspecifiedMatching MONDO:0001255 ventilation pneumonitis skos:exactMatch SCTID:195990006 semapv:UnspecifiedMatching MONDO:0001255 ventilation pneumonitis skos:exactMatch UMLS:C0155891 semapv:UnspecifiedMatching MONDO:0001255 ventilation pneumonitis skos:exactMatch icd11.foundation:1414909625 Air conditioner or humidifier lung semapv:UnspecifiedMatching MONDO:0001256 arteriovenous hemangioma/malformation skos:exactMatch DOID:11294 arteriovenous malformation semapv:UnspecifiedMatching MONDO:0001256 arteriovenous hemangioma/malformation skos:exactMatch MEDGEN:137780 semapv:UnspecifiedMatching MONDO:0001256 arteriovenous hemangioma/malformation skos:exactMatch NCIT:C2882 Arteriovenous Malformation semapv:UnspecifiedMatching MONDO:0001256 arteriovenous hemangioma/malformation skos:exactMatch SCTID:233982006 semapv:UnspecifiedMatching MONDO:0001256 arteriovenous hemangioma/malformation skos:exactMatch UMLS:C0334533 semapv:UnspecifiedMatching MONDO:0001256 arteriovenous hemangioma/malformation skos:exactMatch mesh:D001165 semapv:UnspecifiedMatching MONDO:0001257 retinal microaneurysm skos:exactMatch DOID:11295 retinal microaneurysm semapv:UnspecifiedMatching MONDO:0001257 retinal microaneurysm skos:exactMatch MEDGEN:472899 semapv:UnspecifiedMatching MONDO:0001257 retinal microaneurysm skos:exactMatch SCTID:34037000 semapv:UnspecifiedMatching MONDO:0001257 retinal microaneurysm skos:exactMatch UMLS:C0154834 semapv:UnspecifiedMatching MONDO:0001258 vertebral artery occlusion skos:exactMatch DOID:11299 vertebral artery occlusion semapv:UnspecifiedMatching MONDO:0001258 vertebral artery occlusion skos:exactMatch ICD10CM:I65.0 Occlusion and stenosis of vertebral artery semapv:UnspecifiedMatching MONDO:0001258 vertebral artery occlusion skos:exactMatch MEDGEN:539080 semapv:UnspecifiedMatching MONDO:0001258 vertebral artery occlusion skos:exactMatch SCTID:195182007 semapv:UnspecifiedMatching MONDO:0001258 vertebral artery occlusion skos:exactMatch UMLS:C0265104 semapv:UnspecifiedMatching MONDO:0001259 pituitary gland infarction skos:exactMatch DOID:1130 pituitary infarct semapv:UnspecifiedMatching MONDO:0001259 pituitary gland infarction skos:exactMatch MEDGEN:137969 semapv:UnspecifiedMatching MONDO:0001259 pituitary gland infarction skos:exactMatch NCIT:C27117 Pituitary Gland Infarction semapv:UnspecifiedMatching MONDO:0001259 pituitary gland infarction skos:exactMatch SCTID:95830009 semapv:UnspecifiedMatching MONDO:0001259 pituitary gland infarction skos:exactMatch UMLS:C0342405 semapv:UnspecifiedMatching MONDO:0001259 pituitary gland infarction skos:exactMatch icd11.foundation:765046957 Pituitary gland infarction semapv:UnspecifiedMatching MONDO:0001260 cercarial dermatitis skos:exactMatch DOID:11302 cercarial dermatitis semapv:UnspecifiedMatching MONDO:0001260 cercarial dermatitis skos:exactMatch ICD10CM:B65.3 Cercarial dermatitis semapv:UnspecifiedMatching MONDO:0001260 cercarial dermatitis skos:exactMatch MEDGEN:108186 semapv:UnspecifiedMatching MONDO:0001260 cercarial dermatitis skos:exactMatch NCIT:C128349 Cercarial Dermatitis semapv:UnspecifiedMatching MONDO:0001260 cercarial dermatitis skos:exactMatch SCTID:238534006 semapv:UnspecifiedMatching MONDO:0001260 cercarial dermatitis skos:exactMatch UMLS:C0546996 semapv:UnspecifiedMatching MONDO:0001260 cercarial dermatitis skos:exactMatch icd11.foundation:648519873 Cercarial dermatitis semapv:UnspecifiedMatching MONDO:0001261 Mobitz type II atrioventricular block skos:exactMatch DOID:11312 Mobitz type II atrioventricular block semapv:UnspecifiedMatching MONDO:0001261 Mobitz type II atrioventricular block skos:exactMatch MEDGEN:102340 semapv:UnspecifiedMatching MONDO:0001261 Mobitz type II atrioventricular block skos:exactMatch NCIT:C62018 AV Block Second Degree Mobitz Type II semapv:UnspecifiedMatching MONDO:0001261 Mobitz type II atrioventricular block skos:exactMatch SCTID:28189009 semapv:UnspecifiedMatching MONDO:0001261 Mobitz type II atrioventricular block skos:exactMatch UMLS:C0155700 semapv:UnspecifiedMatching MONDO:0001262 African histoplasmosis skos:exactMatch DOID:11315 African histoplasmosis semapv:UnspecifiedMatching MONDO:0001262 African histoplasmosis skos:exactMatch ICD10CM:B39.5 Histoplasmosis duboisii semapv:UnspecifiedMatching MONDO:0001262 African histoplasmosis skos:exactMatch MEDGEN:526120 semapv:UnspecifiedMatching MONDO:0001262 African histoplasmosis skos:exactMatch SCTID:78511005 semapv:UnspecifiedMatching MONDO:0001262 African histoplasmosis skos:exactMatch UMLS:C0220977 semapv:UnspecifiedMatching MONDO:0001262 African histoplasmosis skos:exactMatch icd11.foundation:997943937 Histoplasmosis due to Histoplasma duboisii semapv:UnspecifiedMatching MONDO:0001263 histoplasmosis retinitis skos:exactMatch DOID:11316 histoplasmosis retinitis semapv:UnspecifiedMatching MONDO:0001263 histoplasmosis retinitis skos:exactMatch MEDGEN:509240 semapv:UnspecifiedMatching MONDO:0001263 histoplasmosis retinitis skos:exactMatch SCTID:187058000 semapv:UnspecifiedMatching MONDO:0001263 histoplasmosis retinitis skos:exactMatch UMLS:C0153278 semapv:UnspecifiedMatching MONDO:0001265 schizophreniform disorder skos:exactMatch DOID:11328 schizophreniform disorder semapv:UnspecifiedMatching MONDO:0001265 schizophreniform disorder skos:exactMatch ICD10CM:F20.81 Schizophreniform disorder semapv:UnspecifiedMatching MONDO:0001265 schizophreniform disorder skos:exactMatch MEDGEN:11336 semapv:UnspecifiedMatching MONDO:0001265 schizophreniform disorder skos:exactMatch NCIT:C94376 Schizophreniform Disorder semapv:UnspecifiedMatching MONDO:0001265 schizophreniform disorder skos:exactMatch SCTID:88975006 semapv:UnspecifiedMatching MONDO:0001265 schizophreniform disorder skos:exactMatch UMLS:C0036358 semapv:UnspecifiedMatching MONDO:0001266 erysipelas skos:exactMatch DOID:11330 erysipelas semapv:UnspecifiedMatching MONDO:0001266 erysipelas skos:exactMatch EFO:1001462 semapv:UnspecifiedMatching MONDO:0001266 erysipelas skos:exactMatch ICD10CM:A46 Erysipelas semapv:UnspecifiedMatching MONDO:0001266 erysipelas skos:exactMatch ICD10WHO:A46 Erysipelas semapv:UnspecifiedMatching MONDO:0001266 erysipelas skos:exactMatch MEDGEN:41855 semapv:UnspecifiedMatching MONDO:0001266 erysipelas skos:exactMatch SCTID:44653001 semapv:UnspecifiedMatching MONDO:0001266 erysipelas skos:exactMatch UMLS:C0014733 semapv:UnspecifiedMatching MONDO:0001266 erysipelas skos:exactMatch icd11.foundation:1651247891 Erysipelas semapv:UnspecifiedMatching MONDO:0001266 erysipelas skos:exactMatch mesh:D004886 semapv:UnspecifiedMatching MONDO:0001268 gingival recession skos:exactMatch DOID:1134 gingival recession semapv:UnspecifiedMatching MONDO:0001268 gingival recession skos:exactMatch ICD10CM:K06.0 Gingival recession semapv:UnspecifiedMatching MONDO:0001268 gingival recession skos:exactMatch MEDGEN:6607 semapv:UnspecifiedMatching MONDO:0001268 gingival recession skos:exactMatch SCTID:59898000 semapv:UnspecifiedMatching MONDO:0001268 gingival recession skos:exactMatch UMLS:C0017572 semapv:UnspecifiedMatching MONDO:0001268 gingival recession skos:exactMatch icd11.foundation:1059404242 Gingival recession semapv:UnspecifiedMatching MONDO:0001268 gingival recession skos:exactMatch mesh:D005889 semapv:UnspecifiedMatching MONDO:0001269 scleral disorder skos:exactMatch DOID:11343 scleral disease semapv:UnspecifiedMatching MONDO:0001269 scleral disorder skos:exactMatch MEDGEN:11345 semapv:UnspecifiedMatching MONDO:0001269 scleral disorder skos:exactMatch NCIT:C79717 Sclera Disorder semapv:UnspecifiedMatching MONDO:0001269 scleral disorder skos:exactMatch SCTID:33064008 semapv:UnspecifiedMatching MONDO:0001269 scleral disorder skos:exactMatch UMLS:C0036412 semapv:UnspecifiedMatching MONDO:0001269 scleral disorder skos:exactMatch mesh:D015422 semapv:UnspecifiedMatching MONDO:0001270 stone in bladder diverticulum skos:exactMatch DOID:11354 stone in bladder diverticulum semapv:UnspecifiedMatching MONDO:0001270 stone in bladder diverticulum skos:exactMatch MEDGEN:510220 semapv:UnspecifiedMatching MONDO:0001270 stone in bladder diverticulum skos:exactMatch SCTID:18109005 semapv:UnspecifiedMatching MONDO:0001270 stone in bladder diverticulum skos:exactMatch UMLS:C0156265 semapv:UnspecifiedMatching MONDO:0001270 stone in bladder diverticulum skos:exactMatch icd11.foundation:422370427 Calculus in diverticulum of bladder semapv:UnspecifiedMatching MONDO:0001271 lens subluxation skos:exactMatch DOID:11364 lens subluxation semapv:UnspecifiedMatching MONDO:0001271 lens subluxation skos:exactMatch ICD10CM:H27.11 Subluxation of lens semapv:UnspecifiedMatching MONDO:0001271 lens subluxation skos:exactMatch MEDGEN:9718 semapv:UnspecifiedMatching MONDO:0001271 lens subluxation skos:exactMatch NCIT:C34772 Lens Subluxation semapv:UnspecifiedMatching MONDO:0001271 lens subluxation skos:exactMatch SCTID:65814009 semapv:UnspecifiedMatching MONDO:0001271 lens subluxation skos:exactMatch UMLS:C0023316 semapv:UnspecifiedMatching MONDO:0001271 lens subluxation skos:exactMatch icd11.foundation:254522648 Subluxation of lens semapv:UnspecifiedMatching MONDO:0001271 lens subluxation skos:exactMatch mesh:D007906 semapv:UnspecifiedMatching MONDO:0001272 functional diarrhea skos:exactMatch DOID:11371 functional diarrhea semapv:UnspecifiedMatching MONDO:0001272 functional diarrhea skos:exactMatch ICD10CM:K59.1 Functional diarrhea semapv:UnspecifiedMatching MONDO:0001272 functional diarrhea skos:exactMatch MEDGEN:510199 semapv:UnspecifiedMatching MONDO:0001272 functional diarrhea skos:exactMatch SCTID:47812002 semapv:UnspecifiedMatching MONDO:0001272 functional diarrhea skos:exactMatch UMLS:C0156173 semapv:UnspecifiedMatching MONDO:0001273 megacolon skos:exactMatch DOID:11372 megacolon semapv:UnspecifiedMatching MONDO:0001273 megacolon skos:exactMatch MEDGEN:6285 semapv:UnspecifiedMatching MONDO:0001273 megacolon skos:exactMatch NCIT:C34810 Megacolon semapv:UnspecifiedMatching MONDO:0001273 megacolon skos:exactMatch SCTID:33995003 semapv:UnspecifiedMatching MONDO:0001273 megacolon skos:exactMatch UMLS:C0025160 semapv:UnspecifiedMatching MONDO:0001273 megacolon skos:exactMatch icd11.foundation:1742998538 Megacolon semapv:UnspecifiedMatching MONDO:0001273 megacolon skos:exactMatch mesh:D008531 semapv:UnspecifiedMatching MONDO:0001274 anal spasm skos:exactMatch DOID:11374 anal spasm semapv:UnspecifiedMatching MONDO:0001274 anal spasm skos:exactMatch ICD10CM:K59.4 Anal spasm semapv:UnspecifiedMatching MONDO:0001274 anal spasm skos:exactMatch MEDGEN:508910 semapv:UnspecifiedMatching MONDO:0001274 anal spasm skos:exactMatch SCTID:17440005 semapv:UnspecifiedMatching MONDO:0001274 anal spasm skos:exactMatch UMLS:C0152167 semapv:UnspecifiedMatching MONDO:0001274 anal spasm skos:exactMatch icd11.foundation:647005938 Anal spasm semapv:UnspecifiedMatching MONDO:0001275 spinal meningioma skos:exactMatch DOID:1138 spinal meningioma semapv:UnspecifiedMatching MONDO:0001275 spinal meningioma skos:exactMatch MEDGEN:87576 semapv:UnspecifiedMatching MONDO:0001275 spinal meningioma skos:exactMatch NCIT:C6935 Spinal Cord Meningioma semapv:UnspecifiedMatching MONDO:0001275 spinal meningioma skos:exactMatch SCTID:189167009 semapv:UnspecifiedMatching MONDO:0001275 spinal meningioma skos:exactMatch UMLS:C0347515 semapv:UnspecifiedMatching MONDO:0001276 expressive language disorder skos:exactMatch DOID:11385 expressive language disorder semapv:UnspecifiedMatching MONDO:0001276 expressive language disorder skos:exactMatch ICD10CM:F80.1 Expressive language disorder semapv:UnspecifiedMatching MONDO:0001276 expressive language disorder skos:exactMatch MEDGEN:452300 semapv:UnspecifiedMatching MONDO:0001276 expressive language disorder skos:exactMatch NCIT:C92562 Expressive Language Disorder semapv:UnspecifiedMatching MONDO:0001276 expressive language disorder skos:exactMatch SCTID:229733002 semapv:UnspecifiedMatching MONDO:0001276 expressive language disorder skos:exactMatch UMLS:C0236826 semapv:UnspecifiedMatching MONDO:0001277 cerebral arteritis skos:exactMatch DOID:11390 cerebral arteritis semapv:UnspecifiedMatching MONDO:0001277 cerebral arteritis skos:exactMatch MEDGEN:507535 semapv:UnspecifiedMatching MONDO:0001277 cerebral arteritis skos:exactMatch SCTID:28366008 semapv:UnspecifiedMatching MONDO:0001277 cerebral arteritis skos:exactMatch UMLS:C0007773 semapv:UnspecifiedMatching MONDO:0001279 intraspinal meningioma skos:exactMatch DOID:1140 spinal canal and spinal cord meningioma semapv:UnspecifiedMatching MONDO:0001280 choroiditis skos:exactMatch DOID:11406 choroiditis semapv:UnspecifiedMatching MONDO:0001280 choroiditis skos:exactMatch MEDGEN:40282 semapv:UnspecifiedMatching MONDO:0001280 choroiditis skos:exactMatch NCIT:C35111 Posterior Uveitis semapv:UnspecifiedMatching MONDO:0001280 choroiditis skos:exactMatch Orphanet:280892 Posterior uveitis semapv:UnspecifiedMatching MONDO:0001280 choroiditis skos:exactMatch SCTID:16553002 semapv:UnspecifiedMatching MONDO:0001280 choroiditis skos:exactMatch UMLS:C0008526 semapv:UnspecifiedMatching MONDO:0001280 choroiditis skos:exactMatch icd11.foundation:1884626736 Posterior uveitis semapv:UnspecifiedMatching MONDO:0001280 choroiditis skos:exactMatch mesh:D002833 semapv:UnspecifiedMatching MONDO:0001281 alternating exotropia skos:exactMatch DOID:1142 alternating exotropia semapv:UnspecifiedMatching MONDO:0001281 alternating exotropia skos:exactMatch ICD10CM:H50.15 Alternating exotropia semapv:UnspecifiedMatching MONDO:0001281 alternating exotropia skos:exactMatch MEDGEN:101825 semapv:UnspecifiedMatching MONDO:0001281 alternating exotropia skos:exactMatch SCTID:37214009 semapv:UnspecifiedMatching MONDO:0001281 alternating exotropia skos:exactMatch UMLS:C0152207 semapv:UnspecifiedMatching MONDO:0001281 alternating exotropia skos:exactMatch icd11.foundation:1611093587 Alternating exotropia semapv:UnspecifiedMatching MONDO:0001282 fallopian tube endometriosis skos:exactMatch DOID:11424 fallopian tube endometriosis semapv:UnspecifiedMatching MONDO:0001282 fallopian tube endometriosis skos:exactMatch ICD10CM:N80.2 Endometriosis of fallopian tube semapv:UnspecifiedMatching MONDO:0001282 fallopian tube endometriosis skos:exactMatch MEDGEN:41788 semapv:UnspecifiedMatching MONDO:0001282 fallopian tube endometriosis skos:exactMatch NCIT:C26763 Fallopian Tube Endometriosis semapv:UnspecifiedMatching MONDO:0001282 fallopian tube endometriosis skos:exactMatch SCTID:22611009 semapv:UnspecifiedMatching MONDO:0001282 fallopian tube endometriosis skos:exactMatch UMLS:C0014177 semapv:UnspecifiedMatching MONDO:0001282 fallopian tube endometriosis skos:exactMatch icd11.foundation:1506672895 Endometriosis of fallopian tube semapv:UnspecifiedMatching MONDO:0001283 endosalpingiosis skos:exactMatch DOID:11427 endosalpingiosis semapv:UnspecifiedMatching MONDO:0001283 endosalpingiosis skos:exactMatch MEDGEN:78704 semapv:UnspecifiedMatching MONDO:0001283 endosalpingiosis skos:exactMatch NCIT:C40121 Peritoneal Endosalpingiosis semapv:UnspecifiedMatching MONDO:0001283 endosalpingiosis skos:exactMatch SCTID:55850004 semapv:UnspecifiedMatching MONDO:0001283 endosalpingiosis skos:exactMatch UMLS:C0269106 semapv:UnspecifiedMatching MONDO:0001284 endometriosis of intestine skos:exactMatch DOID:11428 endometriosis of intestine semapv:UnspecifiedMatching MONDO:0001284 endometriosis of intestine skos:exactMatch ICD10CM:N80.5 Endometriosis of intestine semapv:UnspecifiedMatching MONDO:0001284 endometriosis of intestine skos:exactMatch MEDGEN:510251 semapv:UnspecifiedMatching MONDO:0001284 endometriosis of intestine skos:exactMatch SCTID:5562006 semapv:UnspecifiedMatching MONDO:0001284 endometriosis of intestine skos:exactMatch UMLS:C0156347 semapv:UnspecifiedMatching MONDO:0001284 endometriosis of intestine skos:exactMatch icd11.foundation:706777963 Endometriosis of intestine semapv:UnspecifiedMatching MONDO:0001285 endometriosis of pelvic peritoneum skos:exactMatch DOID:11429 endometriosis of pelvic peritoneum semapv:UnspecifiedMatching MONDO:0001285 endometriosis of pelvic peritoneum skos:exactMatch ICD10CM:N80.3 Endometriosis of pelvic peritoneum semapv:UnspecifiedMatching MONDO:0001285 endometriosis of pelvic peritoneum skos:exactMatch MEDGEN:510249 semapv:UnspecifiedMatching MONDO:0001285 endometriosis of pelvic peritoneum skos:exactMatch SCTID:198251001 semapv:UnspecifiedMatching MONDO:0001285 endometriosis of pelvic peritoneum skos:exactMatch UMLS:C0156345 semapv:UnspecifiedMatching MONDO:0001285 endometriosis of pelvic peritoneum skos:exactMatch icd11.foundation:1015401835 Endometriosis of pelvic peritoneum semapv:UnspecifiedMatching MONDO:0001286 exotropia skos:exactMatch DOID:1143 exotropia semapv:UnspecifiedMatching MONDO:0001286 exotropia skos:exactMatch ICD10CM:H50.1 Exotropia semapv:UnspecifiedMatching MONDO:0001286 exotropia skos:exactMatch MEDGEN:4613 semapv:UnspecifiedMatching MONDO:0001286 exotropia skos:exactMatch NCIT:C34601 Divergent Strabismus semapv:UnspecifiedMatching MONDO:0001286 exotropia skos:exactMatch SCTID:399252000 semapv:UnspecifiedMatching MONDO:0001286 exotropia skos:exactMatch UMLS:C0015310 semapv:UnspecifiedMatching MONDO:0001286 exotropia skos:exactMatch icd11.foundation:2116859618 Exotropia semapv:UnspecifiedMatching MONDO:0001286 exotropia skos:exactMatch mesh:D005099 semapv:UnspecifiedMatching MONDO:0001287 endometriosis in cutaneous scar skos:exactMatch DOID:11430 endometriosis in scar of skin semapv:UnspecifiedMatching MONDO:0001287 endometriosis in cutaneous scar skos:exactMatch ICD10CM:N80.6 Endometriosis in cutaneous scar semapv:UnspecifiedMatching MONDO:0001287 endometriosis in cutaneous scar skos:exactMatch MEDGEN:510252 semapv:UnspecifiedMatching MONDO:0001287 endometriosis in cutaneous scar skos:exactMatch SCTID:53913001 semapv:UnspecifiedMatching MONDO:0001287 endometriosis in cutaneous scar skos:exactMatch UMLS:C0156348 semapv:UnspecifiedMatching MONDO:0001287 endometriosis in cutaneous scar skos:exactMatch icd11.foundation:1586348950 Endometriosis in cutaneous scar semapv:UnspecifiedMatching MONDO:0001288 endometriosis of rectovaginal septum and vagina skos:exactMatch DOID:11431 endometriosis of rectovaginal septum and vagina semapv:UnspecifiedMatching MONDO:0001288 endometriosis of rectovaginal septum and vagina skos:exactMatch ICD10CM:N80.4 Endometriosis of rectovaginal septum and vagina semapv:UnspecifiedMatching MONDO:0001288 endometriosis of rectovaginal septum and vagina skos:exactMatch MEDGEN:510250 semapv:UnspecifiedMatching MONDO:0001288 endometriosis of rectovaginal septum and vagina skos:exactMatch NCIT:C128064 Vaginal Endometriosis semapv:UnspecifiedMatching MONDO:0001288 endometriosis of rectovaginal septum and vagina skos:exactMatch SCTID:198253003 semapv:UnspecifiedMatching MONDO:0001288 endometriosis of rectovaginal septum and vagina skos:exactMatch UMLS:C0156346 semapv:UnspecifiedMatching MONDO:0001290 allergic cutaneous vasculitis skos:exactMatch DOID:11450 allergic cutaneous vasculitis semapv:UnspecifiedMatching MONDO:0001290 allergic cutaneous vasculitis skos:exactMatch MEDGEN:57718 semapv:UnspecifiedMatching MONDO:0001290 allergic cutaneous vasculitis skos:exactMatch NCIT:C35119 Allergic Cutaneous Angiitis semapv:UnspecifiedMatching MONDO:0001290 allergic cutaneous vasculitis skos:exactMatch UMLS:C0151436 semapv:UnspecifiedMatching MONDO:0001291 brain compression skos:exactMatch DOID:11457 brain compression semapv:UnspecifiedMatching MONDO:0001291 brain compression skos:exactMatch ICD10CM:G93.5 Compression of brain semapv:UnspecifiedMatching MONDO:0001291 brain compression skos:exactMatch MEDGEN:507585 semapv:UnspecifiedMatching MONDO:0001291 brain compression skos:exactMatch SCTID:46963008 semapv:UnspecifiedMatching MONDO:0001291 brain compression skos:exactMatch UMLS:C0009592 semapv:UnspecifiedMatching MONDO:0001292 autonomic nervous system disorder skos:exactMatch DOID:11465 autonomic nervous system disease semapv:UnspecifiedMatching MONDO:0001292 autonomic nervous system disorder skos:exactMatch EFO:0009532 semapv:UnspecifiedMatching MONDO:0001292 autonomic nervous system disorder skos:exactMatch MEDGEN:218837 semapv:UnspecifiedMatching MONDO:0001292 autonomic nervous system disorder skos:exactMatch SCTID:128123007 semapv:UnspecifiedMatching MONDO:0001292 autonomic nervous system disorder skos:exactMatch SCTID:15241006 semapv:UnspecifiedMatching MONDO:0001292 autonomic nervous system disorder skos:exactMatch UMLS:C1145628 semapv:UnspecifiedMatching MONDO:0001292 autonomic nervous system disorder skos:exactMatch icd11.foundation:1397803237 Disorders of autonomic nervous system semapv:UnspecifiedMatching MONDO:0001292 autonomic nervous system disorder skos:exactMatch mesh:D001342 semapv:UnspecifiedMatching MONDO:0001293 subglottis cancer skos:exactMatch DOID:11472 subglottis cancer semapv:UnspecifiedMatching MONDO:0001293 subglottis cancer skos:exactMatch ICD10CM:C32.2 Malignant neoplasm of subglottis semapv:UnspecifiedMatching MONDO:0001293 subglottis cancer skos:exactMatch MEDGEN:57562 semapv:UnspecifiedMatching MONDO:0001293 subglottis cancer skos:exactMatch NCIT:C3546 Malignant Subglottis Neoplasm semapv:UnspecifiedMatching MONDO:0001293 subglottis cancer skos:exactMatch SCTID:363430007 semapv:UnspecifiedMatching MONDO:0001293 subglottis cancer skos:exactMatch UMLS:C0153485 semapv:UnspecifiedMatching MONDO:0001294 Horner syndrome skos:exactMatch DOID:11486 Horner's syndrome semapv:UnspecifiedMatching MONDO:0001294 Horner syndrome skos:exactMatch ICD10CM:G90.2 Horner's syndrome semapv:UnspecifiedMatching MONDO:0001294 Horner syndrome skos:exactMatch MEDGEN:5616 semapv:UnspecifiedMatching MONDO:0001294 Horner syndrome skos:exactMatch NCIT:C28155 Horner Syndrome semapv:UnspecifiedMatching MONDO:0001294 Horner syndrome skos:exactMatch SCTID:192915005 semapv:UnspecifiedMatching MONDO:0001294 Horner syndrome skos:exactMatch UMLS:C0019937 semapv:UnspecifiedMatching MONDO:0001294 Horner syndrome skos:exactMatch icd11.foundation:178756462 Horner syndrome semapv:UnspecifiedMatching MONDO:0001294 Horner syndrome skos:exactMatch mesh:D006732 semapv:UnspecifiedMatching MONDO:0001295 idiopathic peripheral autonomic neuropathy skos:exactMatch DOID:11488 idiopathic peripheral autonomic neuropathy semapv:UnspecifiedMatching MONDO:0001295 idiopathic peripheral autonomic neuropathy skos:exactMatch ICD10CM:G90.0 Idiopathic peripheral autonomic neuropathy semapv:UnspecifiedMatching MONDO:0001295 idiopathic peripheral autonomic neuropathy skos:exactMatch MEDGEN:509630 semapv:UnspecifiedMatching MONDO:0001295 idiopathic peripheral autonomic neuropathy skos:exactMatch SCTID:86489003 semapv:UnspecifiedMatching MONDO:0001295 idiopathic peripheral autonomic neuropathy skos:exactMatch UMLS:C0154690 semapv:UnspecifiedMatching MONDO:0001295 idiopathic peripheral autonomic neuropathy skos:exactMatch icd11.foundation:1422269907 Idiopathic peripheral autonomic neuropathy semapv:UnspecifiedMatching MONDO:0001296 acquired night blindness skos:exactMatch DOID:11491 acquired night blindness semapv:UnspecifiedMatching MONDO:0001296 acquired night blindness skos:exactMatch ICD10CM:H53.62 Acquired night blindness semapv:UnspecifiedMatching MONDO:0001296 acquired night blindness skos:exactMatch MEDGEN:508926 semapv:UnspecifiedMatching MONDO:0001296 acquired night blindness skos:exactMatch SCTID:53808001 semapv:UnspecifiedMatching MONDO:0001296 acquired night blindness skos:exactMatch UMLS:C0152202 semapv:UnspecifiedMatching MONDO:0001296 acquired night blindness skos:exactMatch icd11.foundation:1609326234 Acquired night blindness semapv:UnspecifiedMatching MONDO:0001297 cardiac tamponade skos:exactMatch DOID:115 cardiac tamponade semapv:UnspecifiedMatching MONDO:0001297 cardiac tamponade skos:exactMatch EFO:1001285 semapv:UnspecifiedMatching MONDO:0001297 cardiac tamponade skos:exactMatch ICD10CM:I31.4 Cardiac tamponade semapv:UnspecifiedMatching MONDO:0001297 cardiac tamponade skos:exactMatch MEDGEN:40108 semapv:UnspecifiedMatching MONDO:0001297 cardiac tamponade skos:exactMatch NCIT:C50481 Cardiac Tamponade semapv:UnspecifiedMatching MONDO:0001297 cardiac tamponade skos:exactMatch SCTID:35304003 semapv:UnspecifiedMatching MONDO:0001297 cardiac tamponade skos:exactMatch UMLS:C0007177 semapv:UnspecifiedMatching MONDO:0001297 cardiac tamponade skos:exactMatch icd11.foundation:216782575 Cardiac tamponade semapv:UnspecifiedMatching MONDO:0001297 cardiac tamponade skos:exactMatch mesh:D002305 semapv:UnspecifiedMatching MONDO:0001298 congenital mitral valve insufficiency skos:exactMatch ICD10CM:Q23.3 Congenital mitral insufficiency semapv:UnspecifiedMatching MONDO:0001298 congenital mitral valve insufficiency skos:exactMatch MEDGEN:510600 semapv:UnspecifiedMatching MONDO:0001298 congenital mitral valve insufficiency skos:exactMatch NCIT:C197881 Congenital Mitral Insufficiency semapv:UnspecifiedMatching MONDO:0001298 congenital mitral valve insufficiency skos:exactMatch SCTID:29928006 semapv:UnspecifiedMatching MONDO:0001298 congenital mitral valve insufficiency skos:exactMatch UMLS:C0158619 semapv:UnspecifiedMatching MONDO:0001298 congenital mitral valve insufficiency skos:exactMatch icd11.foundation:403917903 Congenital mitral regurgitation semapv:UnspecifiedMatching MONDO:0001299 diabetic autonomic neuropathy skos:exactMatch DOID:11503 diabetic autonomic neuropathy semapv:UnspecifiedMatching MONDO:0001299 diabetic autonomic neuropathy skos:exactMatch MEDGEN:82887 semapv:UnspecifiedMatching MONDO:0001299 diabetic autonomic neuropathy skos:exactMatch NCIT:C27068 Diabetic Autonomic Neuropathy semapv:UnspecifiedMatching MONDO:0001299 diabetic autonomic neuropathy skos:exactMatch SCTID:50620007 semapv:UnspecifiedMatching MONDO:0001299 diabetic autonomic neuropathy skos:exactMatch UMLS:C0271686 semapv:UnspecifiedMatching MONDO:0001299 diabetic autonomic neuropathy skos:exactMatch icd11.foundation:1129679469 Autonomic neuropathy due to diabetes mellitus semapv:UnspecifiedMatching MONDO:0001300 autonomic neuropathy skos:exactMatch DOID:0060054 autonomic peripheral neuropathy semapv:UnspecifiedMatching MONDO:0001300 autonomic neuropathy skos:exactMatch DOID:11504 autonomic neuropathy semapv:UnspecifiedMatching MONDO:0001300 autonomic neuropathy skos:exactMatch MEDGEN:82621 semapv:UnspecifiedMatching MONDO:0001300 autonomic neuropathy skos:exactMatch NCIT:C27033 Autonomic Neuropathy semapv:UnspecifiedMatching MONDO:0001300 autonomic neuropathy skos:exactMatch SCTID:277879009 semapv:UnspecifiedMatching MONDO:0001300 autonomic neuropathy skos:exactMatch UMLS:C0259749 semapv:UnspecifiedMatching MONDO:0001301 rumination disorder skos:exactMatch DOID:11507 rumination disorder semapv:UnspecifiedMatching MONDO:0001301 rumination disorder skos:exactMatch MEDGEN:102311 semapv:UnspecifiedMatching MONDO:0001301 rumination disorder skos:exactMatch NCIT:C92567 Rumination Disorder semapv:UnspecifiedMatching MONDO:0001301 rumination disorder skos:exactMatch SCTID:192014006 semapv:UnspecifiedMatching MONDO:0001301 rumination disorder skos:exactMatch UMLS:C0154575 semapv:UnspecifiedMatching MONDO:0001301 rumination disorder skos:exactMatch icd11.foundation:879747857 Rumination disorder semapv:UnspecifiedMatching MONDO:0001301 rumination disorder skos:exactMatch mesh:D019959 semapv:UnspecifiedMatching MONDO:0001302 hypertensive heart disease skos:exactMatch DOID:11516 hypertensive heart disease semapv:UnspecifiedMatching MONDO:0001302 hypertensive heart disease skos:exactMatch ICD10CM:I11 Hypertensive heart disease semapv:UnspecifiedMatching MONDO:0001302 hypertensive heart disease skos:exactMatch ICD10WHO:I11 Hypertensive heart disease semapv:UnspecifiedMatching MONDO:0001302 hypertensive heart disease skos:exactMatch MEDGEN:508889 semapv:UnspecifiedMatching MONDO:0001302 hypertensive heart disease skos:exactMatch NCIT:C4907 Hypertensive Cardiomegaly semapv:UnspecifiedMatching MONDO:0001302 hypertensive heart disease skos:exactMatch SCTID:64715009 semapv:UnspecifiedMatching MONDO:0001302 hypertensive heart disease skos:exactMatch UMLS:C0152105 semapv:UnspecifiedMatching MONDO:0001302 hypertensive heart disease skos:exactMatch icd11.foundation:1210166201 Hypertensive heart disease semapv:UnspecifiedMatching MONDO:0001303 abnormal pupillary function skos:exactMatch DOID:11518 abnormal pupillary function semapv:UnspecifiedMatching MONDO:0001303 abnormal pupillary function skos:exactMatch MEDGEN:214629 semapv:UnspecifiedMatching MONDO:0001303 abnormal pupillary function skos:exactMatch SCTID:72124005 semapv:UnspecifiedMatching MONDO:0001303 abnormal pupillary function skos:exactMatch UMLS:C0917967 semapv:UnspecifiedMatching MONDO:0001303 abnormal pupillary function skos:exactMatch icd11.foundation:538839606 Anomalies of pupillary function semapv:UnspecifiedMatching MONDO:0001304 benign hypertensive renal disease skos:exactMatch DOID:11520 benign hypertensive renal disease semapv:UnspecifiedMatching MONDO:0001304 benign hypertensive renal disease skos:exactMatch MEDGEN:510035 semapv:UnspecifiedMatching MONDO:0001304 benign hypertensive renal disease skos:exactMatch SCTID:193003 semapv:UnspecifiedMatching MONDO:0001304 benign hypertensive renal disease skos:exactMatch UMLS:C0155596 semapv:UnspecifiedMatching MONDO:0001305 laryngostenosis skos:exactMatch DOID:11527 laryngostenosis semapv:UnspecifiedMatching MONDO:0001305 laryngostenosis skos:exactMatch ICD10CM:J38.6 Stenosis of larynx semapv:UnspecifiedMatching MONDO:0001305 laryngostenosis skos:exactMatch MEDGEN:7274 semapv:UnspecifiedMatching MONDO:0001305 laryngostenosis skos:exactMatch SCTID:75547007 semapv:UnspecifiedMatching MONDO:0001305 laryngostenosis skos:exactMatch UMLS:C0023075 semapv:UnspecifiedMatching MONDO:0001305 laryngostenosis skos:exactMatch icd11.foundation:803766116 Stenosis of larynx semapv:UnspecifiedMatching MONDO:0001305 laryngostenosis skos:exactMatch mesh:D007829 semapv:UnspecifiedMatching MONDO:0001306 obsolete recurrent corneal erosion skos:exactMatch DOID:11541 recurrent corneal erosion semapv:UnspecifiedMatching MONDO:0001306 obsolete recurrent corneal erosion skos:exactMatch SCTID:2055003 semapv:UnspecifiedMatching MONDO:0001307 corneal abscess skos:exactMatch DOID:11543 corneal abscess semapv:UnspecifiedMatching MONDO:0001307 corneal abscess skos:exactMatch ICD10CM:H16.31 Corneal abscess semapv:UnspecifiedMatching MONDO:0001307 corneal abscess skos:exactMatch MEDGEN:56351 semapv:UnspecifiedMatching MONDO:0001307 corneal abscess skos:exactMatch NCIT:C26969 Corneal Abscess semapv:UnspecifiedMatching MONDO:0001307 corneal abscess skos:exactMatch SCTID:64366002 semapv:UnspecifiedMatching MONDO:0001307 corneal abscess skos:exactMatch UMLS:C0155091 semapv:UnspecifiedMatching MONDO:0001307 corneal abscess skos:exactMatch icd11.foundation:485862779 Corneal abscess semapv:UnspecifiedMatching MONDO:0001308 corneal deposit skos:exactMatch DOID:11547 corneal deposit semapv:UnspecifiedMatching MONDO:0001308 corneal deposit skos:exactMatch ICD10CM:H18.0 Corneal pigmentations and deposits semapv:UnspecifiedMatching MONDO:0001308 corneal deposit skos:exactMatch MEDGEN:511537 semapv:UnspecifiedMatching MONDO:0001308 corneal deposit skos:exactMatch SCTID:74460005 semapv:UnspecifiedMatching MONDO:0001308 corneal deposit skos:exactMatch UMLS:C0162281 semapv:UnspecifiedMatching MONDO:0001308 corneal deposit skos:exactMatch icd11.foundation:1760427912 Corneal deposit semapv:UnspecifiedMatching MONDO:0001309 oculomotor nerve paralysis skos:exactMatch DOID:11550 oculomotor nerve paralysis semapv:UnspecifiedMatching MONDO:0001309 oculomotor nerve paralysis skos:exactMatch MEDGEN:14459 semapv:UnspecifiedMatching MONDO:0001309 oculomotor nerve paralysis skos:exactMatch NCIT:C27597 Oculomotor Nerve Paralysis semapv:UnspecifiedMatching MONDO:0001309 oculomotor nerve paralysis skos:exactMatch Orphanet:98685 Rare oculomotor nerve disorder semapv:UnspecifiedMatching MONDO:0001309 oculomotor nerve paralysis skos:exactMatch SCTID:388980004 semapv:UnspecifiedMatching MONDO:0001309 oculomotor nerve paralysis skos:exactMatch UMLS:C0028866 semapv:UnspecifiedMatching MONDO:0001310 Bowman's membrane folds or rupture skos:exactMatch DOID:11552 Bowman's membrane folds or rupture semapv:UnspecifiedMatching MONDO:0001310 Bowman's membrane folds or rupture skos:exactMatch MEDGEN:509796 semapv:UnspecifiedMatching MONDO:0001310 Bowman's membrane folds or rupture skos:exactMatch SCTID:45382000 semapv:UnspecifiedMatching MONDO:0001310 Bowman's membrane folds or rupture skos:exactMatch UMLS:C0155115 semapv:UnspecifiedMatching MONDO:0001312 acute serous otitis media skos:exactMatch DOID:11557 acute serous otitis media semapv:UnspecifiedMatching MONDO:0001312 acute serous otitis media skos:exactMatch ICD10CM:H65.0 Acute serous otitis media semapv:UnspecifiedMatching MONDO:0001312 acute serous otitis media skos:exactMatch MEDGEN:509955 semapv:UnspecifiedMatching MONDO:0001312 acute serous otitis media skos:exactMatch SCTID:194240006 semapv:UnspecifiedMatching MONDO:0001312 acute serous otitis media skos:exactMatch UMLS:C0155415 semapv:UnspecifiedMatching MONDO:0001313 acute allergic serous otitis media skos:exactMatch DOID:11558 acute allergic serous otitis media semapv:UnspecifiedMatching MONDO:0001313 acute allergic serous otitis media skos:exactMatch MEDGEN:509956 semapv:UnspecifiedMatching MONDO:0001313 acute allergic serous otitis media skos:exactMatch SCTID:59275002 semapv:UnspecifiedMatching MONDO:0001313 acute allergic serous otitis media skos:exactMatch UMLS:C0155418 semapv:UnspecifiedMatching MONDO:0001314 chondrocalcinosis skos:exactMatch DOID:1156 chondrocalcinosis semapv:UnspecifiedMatching MONDO:0001314 chondrocalcinosis skos:exactMatch MEDGEN:154303 semapv:UnspecifiedMatching MONDO:0001314 chondrocalcinosis skos:exactMatch NCIT:C34955 Pseudogout semapv:UnspecifiedMatching MONDO:0001314 chondrocalcinosis skos:exactMatch SCTID:239832006 semapv:UnspecifiedMatching MONDO:0001314 chondrocalcinosis skos:exactMatch UMLS:C0553730 semapv:UnspecifiedMatching MONDO:0001314 chondrocalcinosis skos:exactMatch icd11.foundation:2041797033 Chondrocalcinosis semapv:UnspecifiedMatching MONDO:0001314 chondrocalcinosis skos:exactMatch mesh:D002805 semapv:UnspecifiedMatching MONDO:0001315 neurocirculatory asthenia skos:exactMatch DOID:11569 neurocirculatory asthenia semapv:UnspecifiedMatching MONDO:0001315 neurocirculatory asthenia skos:exactMatch MEDGEN:283928 semapv:UnspecifiedMatching MONDO:0001315 neurocirculatory asthenia skos:exactMatch SCTID:191962000 semapv:UnspecifiedMatching MONDO:0001315 neurocirculatory asthenia skos:exactMatch UMLS:C1535893 semapv:UnspecifiedMatching MONDO:0001315 neurocirculatory asthenia skos:exactMatch mesh:D009449 semapv:UnspecifiedMatching MONDO:0001316 streptococcal meningitis skos:exactMatch DOID:11574 streptococcal meningitis semapv:UnspecifiedMatching MONDO:0001316 streptococcal meningitis skos:exactMatch ICD10CM:G00.2 Streptococcal meningitis semapv:UnspecifiedMatching MONDO:0001316 streptococcal meningitis skos:exactMatch MEDGEN:509616 semapv:UnspecifiedMatching MONDO:0001316 streptococcal meningitis skos:exactMatch SCTID:4510004 semapv:UnspecifiedMatching MONDO:0001316 streptococcal meningitis skos:exactMatch UMLS:C0154639 semapv:UnspecifiedMatching MONDO:0001316 streptococcal meningitis skos:exactMatch icd11.foundation:705971711 Meningitis due to Streptococcus semapv:UnspecifiedMatching MONDO:0001317 phlyctenulosis skos:exactMatch DOID:11581 phlyctenulosis semapv:UnspecifiedMatching MONDO:0001317 phlyctenulosis skos:exactMatch ICD10CM:H16.25 Phlyctenular keratoconjunctivitis semapv:UnspecifiedMatching MONDO:0001317 phlyctenulosis skos:exactMatch MEDGEN:509775 semapv:UnspecifiedMatching MONDO:0001317 phlyctenulosis skos:exactMatch SCTID:67895005 semapv:UnspecifiedMatching MONDO:0001317 phlyctenulosis skos:exactMatch UMLS:C0155080 semapv:UnspecifiedMatching MONDO:0001318 functional gastric disease skos:exactMatch DOID:1159 functional gastric disease semapv:UnspecifiedMatching MONDO:0001318 functional gastric disease skos:exactMatch MEDGEN:510176 semapv:UnspecifiedMatching MONDO:0001318 functional gastric disease skos:exactMatch SCTID:150541000119104 semapv:UnspecifiedMatching MONDO:0001318 functional gastric disease skos:exactMatch SCTID:386211005 semapv:UnspecifiedMatching MONDO:0001318 functional gastric disease skos:exactMatch UMLS:C0156084 semapv:UnspecifiedMatching MONDO:0001318 functional gastric disease skos:exactMatch icd11.foundation:2010042799 Stomach function disorder semapv:UnspecifiedMatching MONDO:0001319 bladder lateral wall cancer skos:exactMatch DOID:11593 bladder lateral wall cancer semapv:UnspecifiedMatching MONDO:0001319 bladder lateral wall cancer skos:exactMatch MEDGEN:105417 semapv:UnspecifiedMatching MONDO:0001319 bladder lateral wall cancer skos:exactMatch SCTID:188241004 semapv:UnspecifiedMatching MONDO:0001319 bladder lateral wall cancer skos:exactMatch UMLS:C0496828 semapv:UnspecifiedMatching MONDO:0001320 ring staphyloma skos:exactMatch DOID:11594 ring staphyloma semapv:UnspecifiedMatching MONDO:0001320 ring staphyloma skos:exactMatch ICD10CM:H15.85 Ring staphyloma semapv:UnspecifiedMatching MONDO:0001320 ring staphyloma skos:exactMatch MEDGEN:509937 semapv:UnspecifiedMatching MONDO:0001320 ring staphyloma skos:exactMatch SCTID:5299007 semapv:UnspecifiedMatching MONDO:0001320 ring staphyloma skos:exactMatch UMLS:C0155363 semapv:UnspecifiedMatching MONDO:0001320 ring staphyloma skos:exactMatch icd11.foundation:7248227 Ring staphyloma semapv:UnspecifiedMatching MONDO:0001321 obsolete scleral staphyloma skos:exactMatch DOID:11595 scleral staphyloma semapv:UnspecifiedMatching MONDO:0001321 obsolete scleral staphyloma skos:exactMatch SCTID:111534007 semapv:UnspecifiedMatching MONDO:0001322 pericardium cancer skos:exactMatch DOID:116 pericardium cancer semapv:UnspecifiedMatching MONDO:0001322 pericardium cancer skos:exactMatch MEDGEN:87561 semapv:UnspecifiedMatching MONDO:0001322 pericardium cancer skos:exactMatch NCIT:C4567 Malignant Pericardial Neoplasm semapv:UnspecifiedMatching MONDO:0001322 pericardium cancer skos:exactMatch UMLS:C0346609 semapv:UnspecifiedMatching MONDO:0001323 infant gynecomastia skos:exactMatch DOID:11603 infant gynecomastia semapv:UnspecifiedMatching MONDO:0001323 infant gynecomastia skos:exactMatch ICD10CM:P83.4 Breast engorgement of newborn semapv:UnspecifiedMatching MONDO:0001323 infant gynecomastia skos:exactMatch MEDGEN:258541 semapv:UnspecifiedMatching MONDO:0001323 infant gynecomastia skos:exactMatch SCTID:34831003 semapv:UnspecifiedMatching MONDO:0001323 infant gynecomastia skos:exactMatch UMLS:C1449721 semapv:UnspecifiedMatching MONDO:0001324 obsolete hyperandrogenism skos:exactMatch DOID:11613 hyperandrogenism semapv:UnspecifiedMatching MONDO:0001324 obsolete hyperandrogenism skos:exactMatch SCTID:237793004 semapv:UnspecifiedMatching MONDO:0001324 obsolete hyperandrogenism skos:exactMatch mesh:D017588 semapv:UnspecifiedMatching MONDO:0001325 penile cancer skos:exactMatch DOID:11615 penile cancer semapv:UnspecifiedMatching MONDO:0001325 penile cancer skos:exactMatch ICD10CM:C60 Malignant neoplasm of penis semapv:UnspecifiedMatching MONDO:0001325 penile cancer skos:exactMatch MEDGEN:102277 semapv:UnspecifiedMatching MONDO:0001325 penile cancer skos:exactMatch NCIT:C7547 Malignant Penile Neoplasm semapv:UnspecifiedMatching MONDO:0001325 penile cancer skos:exactMatch Orphanet:398043 Malignant tumor of penis semapv:UnspecifiedMatching MONDO:0001325 penile cancer skos:exactMatch SCTID:363516004 semapv:UnspecifiedMatching MONDO:0001325 penile cancer skos:exactMatch UMLS:C0153601 semapv:UnspecifiedMatching MONDO:0001325 penile cancer skos:exactMatch icd11.foundation:969101922 Malignant neoplasms of penis semapv:UnspecifiedMatching MONDO:0001326 dental pulp necrosis skos:exactMatch DOID:11623 dental pulp necrosis semapv:UnspecifiedMatching MONDO:0001326 dental pulp necrosis skos:exactMatch ICD10CM:K04.1 Necrosis of pulp semapv:UnspecifiedMatching MONDO:0001326 dental pulp necrosis skos:exactMatch MEDGEN:8306 semapv:UnspecifiedMatching MONDO:0001326 dental pulp necrosis skos:exactMatch SCTID:42711005 semapv:UnspecifiedMatching MONDO:0001326 dental pulp necrosis skos:exactMatch UMLS:C0011407 semapv:UnspecifiedMatching MONDO:0001326 dental pulp necrosis skos:exactMatch icd11.foundation:1192336635 Necrosis of pulp semapv:UnspecifiedMatching MONDO:0001326 dental pulp necrosis skos:exactMatch mesh:D003790 semapv:UnspecifiedMatching MONDO:0001327 pelvic muscle wasting skos:exactMatch DOID:11629 pelvic muscle wasting semapv:UnspecifiedMatching MONDO:0001327 pelvic muscle wasting skos:exactMatch ICD10CM:N81.84 Pelvic muscle wasting semapv:UnspecifiedMatching MONDO:0001327 pelvic muscle wasting skos:exactMatch MEDGEN:1843467 semapv:UnspecifiedMatching MONDO:0001327 pelvic muscle wasting skos:exactMatch UMLS:C1456255 semapv:UnspecifiedMatching MONDO:0001328 thyroid hormone resistance syndrome skos:exactMatch DOID:11633 thyroid hormone resistance syndrome semapv:UnspecifiedMatching MONDO:0001328 thyroid hormone resistance syndrome skos:exactMatch MEDGEN:424854 semapv:UnspecifiedMatching MONDO:0001328 thyroid hormone resistance syndrome skos:exactMatch SCTID:111567006 semapv:UnspecifiedMatching MONDO:0001328 thyroid hormone resistance syndrome skos:exactMatch UMLS:C2940786 semapv:UnspecifiedMatching MONDO:0001328 thyroid hormone resistance syndrome skos:exactMatch mesh:D018382 semapv:UnspecifiedMatching MONDO:0001329 accommodative spasm skos:exactMatch DOID:11637 accommodative spasm semapv:UnspecifiedMatching MONDO:0001329 accommodative spasm skos:exactMatch ICD10CM:H52.53 Spasm of accommodation semapv:UnspecifiedMatching MONDO:0001329 accommodative spasm skos:exactMatch MEDGEN:508923 semapv:UnspecifiedMatching MONDO:0001329 accommodative spasm skos:exactMatch SCTID:30069002 semapv:UnspecifiedMatching MONDO:0001329 accommodative spasm skos:exactMatch UMLS:C0152196 semapv:UnspecifiedMatching MONDO:0001329 accommodative spasm skos:exactMatch icd11.foundation:755865578 Spasm of accommodation semapv:UnspecifiedMatching MONDO:0001330 presbyopia skos:exactMatch DOID:11638 presbyopia semapv:UnspecifiedMatching MONDO:0001330 presbyopia skos:exactMatch ICD10CM:H52.4 Presbyopia semapv:UnspecifiedMatching MONDO:0001330 presbyopia skos:exactMatch MEDGEN:10912 semapv:UnspecifiedMatching MONDO:0001330 presbyopia skos:exactMatch SCTID:41256004 semapv:UnspecifiedMatching MONDO:0001330 presbyopia skos:exactMatch UMLS:C0033075 semapv:UnspecifiedMatching MONDO:0001330 presbyopia skos:exactMatch icd11.foundation:22794400 Presbyopia semapv:UnspecifiedMatching MONDO:0001330 presbyopia skos:exactMatch mesh:D011305 semapv:UnspecifiedMatching MONDO:0001331 conjunctival deposit skos:exactMatch DOID:11653 conjunctival deposit semapv:UnspecifiedMatching MONDO:0001331 conjunctival deposit skos:exactMatch MEDGEN:511536 semapv:UnspecifiedMatching MONDO:0001331 conjunctival deposit skos:exactMatch SCTID:62660000 semapv:UnspecifiedMatching MONDO:0001331 conjunctival deposit skos:exactMatch UMLS:C0162280 semapv:UnspecifiedMatching MONDO:0001332 palindromic rheumatism skos:exactMatch DOID:1166 palindromic rheumatism semapv:UnspecifiedMatching MONDO:0001332 palindromic rheumatism skos:exactMatch ICD10CM:M12.3 Palindromic rheumatism semapv:UnspecifiedMatching MONDO:0001332 palindromic rheumatism skos:exactMatch MEDGEN:39080 semapv:UnspecifiedMatching MONDO:0001332 palindromic rheumatism skos:exactMatch SCTID:50442003 semapv:UnspecifiedMatching MONDO:0001332 palindromic rheumatism skos:exactMatch UMLS:C0085574 semapv:UnspecifiedMatching MONDO:0001332 palindromic rheumatism skos:exactMatch icd11.foundation:494875651 Palindromic rheumatism semapv:UnspecifiedMatching MONDO:0001332 palindromic rheumatism skos:exactMatch mesh:C538103 semapv:UnspecifiedMatching MONDO:0001334 hypertrichosis of eyelid skos:exactMatch DOID:11669 hypertrichosis of eyelid semapv:UnspecifiedMatching MONDO:0001334 hypertrichosis of eyelid skos:exactMatch ICD10CM:H02.86 Hypertrichosis of eyelid semapv:UnspecifiedMatching MONDO:0001334 hypertrichosis of eyelid skos:exactMatch MEDGEN:509853 semapv:UnspecifiedMatching MONDO:0001334 hypertrichosis of eyelid skos:exactMatch SCTID:79830009 semapv:UnspecifiedMatching MONDO:0001334 hypertrichosis of eyelid skos:exactMatch UMLS:C0155213 semapv:UnspecifiedMatching MONDO:0001334 hypertrichosis of eyelid skos:exactMatch icd11.foundation:1623148241 Hypertrichosis of eyelid semapv:UnspecifiedMatching MONDO:0001335 hypotrichosis of eyelid skos:exactMatch DOID:11671 hypotrichosis of eyelid semapv:UnspecifiedMatching MONDO:0001335 hypotrichosis of eyelid skos:exactMatch MEDGEN:509854 semapv:UnspecifiedMatching MONDO:0001335 hypotrichosis of eyelid skos:exactMatch SCTID:70738004 semapv:UnspecifiedMatching MONDO:0001335 hypotrichosis of eyelid skos:exactMatch UMLS:C0155214 semapv:UnspecifiedMatching MONDO:0001336 familial hyperlipidemia skos:exactMatch DOID:1168 familial hyperlipidemia semapv:UnspecifiedMatching MONDO:0001336 familial hyperlipidemia skos:exactMatch MEDGEN:675194 semapv:UnspecifiedMatching MONDO:0001336 familial hyperlipidemia skos:exactMatch UMLS:C0700623 semapv:UnspecifiedMatching MONDO:0001337 inflamed seborrheic keratosis skos:exactMatch DOID:11685 inflamed seborrheic keratosis semapv:UnspecifiedMatching MONDO:0001337 inflamed seborrheic keratosis skos:exactMatch ICD10CM:L82.0 Inflamed seborrheic keratosis semapv:UnspecifiedMatching MONDO:0001337 inflamed seborrheic keratosis skos:exactMatch MEDGEN:580965 semapv:UnspecifiedMatching MONDO:0001337 inflamed seborrheic keratosis skos:exactMatch SCTID:442348004 semapv:UnspecifiedMatching MONDO:0001337 inflamed seborrheic keratosis skos:exactMatch UMLS:C0376117 semapv:UnspecifiedMatching MONDO:0001338 acute apical periodontitis skos:exactMatch DOID:11693 acute apical periodontitis semapv:UnspecifiedMatching MONDO:0001338 acute apical periodontitis skos:exactMatch ICD10CM:K04.4 Acute apical periodontitis of pulpal origin semapv:UnspecifiedMatching MONDO:0001338 acute apical periodontitis skos:exactMatch MEDGEN:901807 semapv:UnspecifiedMatching MONDO:0001338 acute apical periodontitis skos:exactMatch SCTID:718053009 semapv:UnspecifiedMatching MONDO:0001338 acute apical periodontitis skos:exactMatch UMLS:C4084770 semapv:UnspecifiedMatching MONDO:0001339 portal vein thrombosis skos:exactMatch DOID:11695 portal vein thrombosis semapv:UnspecifiedMatching MONDO:0001339 portal vein thrombosis skos:exactMatch ICD10CM:I81 Portal vein thrombosis semapv:UnspecifiedMatching MONDO:0001339 portal vein thrombosis skos:exactMatch ICD10WHO:I81 Portal vein thrombosis semapv:UnspecifiedMatching MONDO:0001339 portal vein thrombosis skos:exactMatch MEDGEN:56372 semapv:UnspecifiedMatching MONDO:0001339 portal vein thrombosis skos:exactMatch NCIT:C78565 Portal Vein Thrombosis semapv:UnspecifiedMatching MONDO:0001339 portal vein thrombosis skos:exactMatch SCTID:17920008 semapv:UnspecifiedMatching MONDO:0001339 portal vein thrombosis skos:exactMatch UMLS:C0155773 semapv:UnspecifiedMatching MONDO:0001339 portal vein thrombosis skos:exactMatch icd11.foundation:866276949 Portal vein thrombosis semapv:UnspecifiedMatching MONDO:0001340 heart cancer skos:exactMatch DOID:117 heart cancer semapv:UnspecifiedMatching MONDO:0001340 heart cancer skos:exactMatch ICD10CM:C38.0 Malignant neoplasm of heart semapv:UnspecifiedMatching MONDO:0001340 heart cancer skos:exactMatch MEDGEN:57787 semapv:UnspecifiedMatching MONDO:0001340 heart cancer skos:exactMatch NCIT:C3548 Malignant Cardiac Neoplasm semapv:UnspecifiedMatching MONDO:0001340 heart cancer skos:exactMatch UMLS:C0153500 semapv:UnspecifiedMatching MONDO:0001340 heart cancer skos:exactMatch mesh:D006338 semapv:UnspecifiedMatching MONDO:0001341 selective IgA deficiency disease skos:exactMatch DOID:0060025 immunoglobulin alpha deficiency semapv:UnspecifiedMatching MONDO:0001341 selective IgA deficiency disease skos:exactMatch DOID:11701 selective IgA deficiency disease semapv:UnspecifiedMatching MONDO:0001341 selective IgA deficiency disease skos:exactMatch EFO:1001929 semapv:UnspecifiedMatching MONDO:0001341 selective IgA deficiency disease skos:exactMatch MEDGEN:883982 semapv:UnspecifiedMatching MONDO:0001341 selective IgA deficiency disease skos:exactMatch NCIT:C26964 Selective IgA Immunodeficiency semapv:UnspecifiedMatching MONDO:0001341 selective IgA deficiency disease skos:exactMatch SCTID:29260007 semapv:UnspecifiedMatching MONDO:0001341 selective IgA deficiency disease skos:exactMatch UMLS:C4049006 semapv:UnspecifiedMatching MONDO:0001341 selective IgA deficiency disease skos:exactMatch mesh:D017098 semapv:UnspecifiedMatching MONDO:0001342 dysgammaglobulinemia skos:exactMatch DOID:11702 dysgammaglobulinemia semapv:UnspecifiedMatching MONDO:0001342 dysgammaglobulinemia skos:exactMatch MEDGEN:41679 semapv:UnspecifiedMatching MONDO:0001342 dysgammaglobulinemia skos:exactMatch SCTID:123782009 semapv:UnspecifiedMatching MONDO:0001342 dysgammaglobulinemia skos:exactMatch UMLS:C0013374 semapv:UnspecifiedMatching MONDO:0001342 dysgammaglobulinemia skos:exactMatch mesh:D004406 semapv:UnspecifiedMatching MONDO:0001343 impaired renal function disease skos:exactMatch ICD10CM:N25 Disorders resulting from impaired renal tubular function semapv:UnspecifiedMatching MONDO:0001343 impaired renal function disease skos:exactMatch MEDGEN:574572 semapv:UnspecifiedMatching MONDO:0001343 impaired renal function disease skos:exactMatch SCTID:197663003 semapv:UnspecifiedMatching MONDO:0001343 impaired renal function disease skos:exactMatch UMLS:C0341677 semapv:UnspecifiedMatching MONDO:0001345 antidepressant type abuse skos:exactMatch DOID:11718 antidepressant type abuse semapv:UnspecifiedMatching MONDO:0001345 antidepressant type abuse skos:exactMatch MEDGEN:572698 semapv:UnspecifiedMatching MONDO:0001345 antidepressant type abuse skos:exactMatch UMLS:C0338677 semapv:UnspecifiedMatching MONDO:0001347 facioscapulohumeral muscular dystrophy skos:exactMatch DOID:11727 facioscapulohumeral muscular dystrophy semapv:UnspecifiedMatching MONDO:0001347 facioscapulohumeral muscular dystrophy skos:exactMatch ICD10CM:G71.02 Facioscapulohumeral muscular dystrophy semapv:UnspecifiedMatching MONDO:0001347 facioscapulohumeral muscular dystrophy skos:exactMatch MEDGEN:65956 semapv:UnspecifiedMatching MONDO:0001347 facioscapulohumeral muscular dystrophy skos:exactMatch NCIT:C84704 Facioscapulohumeral Muscular Dystrophy semapv:UnspecifiedMatching MONDO:0001347 facioscapulohumeral muscular dystrophy skos:exactMatch OMIMPS:158900 Facioscapulohumeral muscular dystrophy semapv:UnspecifiedMatching MONDO:0001347 facioscapulohumeral muscular dystrophy skos:exactMatch Orphanet:269 Facioscapulohumeral dystrophy semapv:UnspecifiedMatching MONDO:0001347 facioscapulohumeral muscular dystrophy skos:exactMatch SCTID:399091004 semapv:UnspecifiedMatching MONDO:0001347 facioscapulohumeral muscular dystrophy skos:exactMatch UMLS:C0238288 semapv:UnspecifiedMatching MONDO:0001347 facioscapulohumeral muscular dystrophy skos:exactMatch icd11.foundation:621965073 Facioscapulohumeral muscular dystrophy semapv:UnspecifiedMatching MONDO:0001347 facioscapulohumeral muscular dystrophy skos:exactMatch mesh:D020391 semapv:UnspecifiedMatching MONDO:0001349 odontoclasia skos:exactMatch DOID:11736 odontoclasia semapv:UnspecifiedMatching MONDO:0001349 odontoclasia skos:exactMatch MEDGEN:574111 semapv:UnspecifiedMatching MONDO:0001349 odontoclasia skos:exactMatch SCTID:196305005 semapv:UnspecifiedMatching MONDO:0001349 odontoclasia skos:exactMatch UMLS:C0341004 semapv:UnspecifiedMatching MONDO:0001349 odontoclasia skos:exactMatch icd11.foundation:43527109 Odontoclasia semapv:UnspecifiedMatching MONDO:0001350 parametrium malignant neoplasm skos:exactMatch DOID:11746 parametrium malignant neoplasm semapv:UnspecifiedMatching MONDO:0001350 parametrium malignant neoplasm skos:exactMatch ICD10CM:C57.3 Malignant neoplasm of parametrium semapv:UnspecifiedMatching MONDO:0001350 parametrium malignant neoplasm skos:exactMatch MEDGEN:509332 semapv:UnspecifiedMatching MONDO:0001350 parametrium malignant neoplasm skos:exactMatch SCTID:448674007 semapv:UnspecifiedMatching MONDO:0001350 parametrium malignant neoplasm skos:exactMatch UMLS:C0153581 semapv:UnspecifiedMatching MONDO:0001351 uterine adnexa cancer skos:exactMatch DOID:11747 uterine adnexa cancer semapv:UnspecifiedMatching MONDO:0001351 uterine adnexa cancer skos:exactMatch MEDGEN:509333 semapv:UnspecifiedMatching MONDO:0001351 uterine adnexa cancer skos:exactMatch UMLS:C0153584 semapv:UnspecifiedMatching MONDO:0001352 round ligament malignant neoplasm skos:exactMatch DOID:11748 round ligament malignant neoplasm semapv:UnspecifiedMatching MONDO:0001352 round ligament malignant neoplasm skos:exactMatch ICD10CM:C57.2 Malignant neoplasm of round ligament semapv:UnspecifiedMatching MONDO:0001352 round ligament malignant neoplasm skos:exactMatch MEDGEN:577692 semapv:UnspecifiedMatching MONDO:0001352 round ligament malignant neoplasm skos:exactMatch SCTID:188204000 semapv:UnspecifiedMatching MONDO:0001352 round ligament malignant neoplasm skos:exactMatch UMLS:C0346867 semapv:UnspecifiedMatching MONDO:0001352 round ligament malignant neoplasm skos:exactMatch icd11.foundation:176621155 Malignant neoplasm of round ligament semapv:UnspecifiedMatching MONDO:0001353 Bordetella parapertussis infectious disease skos:exactMatch DOID:11750 Bordetella parapertussis whooping cough semapv:UnspecifiedMatching MONDO:0001353 Bordetella parapertussis infectious disease skos:exactMatch ICD10CM:A37.1 Whooping cough due to Bordetella parapertussis semapv:UnspecifiedMatching MONDO:0001353 Bordetella parapertussis infectious disease skos:exactMatch MEDGEN:546794 semapv:UnspecifiedMatching MONDO:0001353 Bordetella parapertussis infectious disease skos:exactMatch SCTID:77116006 semapv:UnspecifiedMatching MONDO:0001353 Bordetella parapertussis infectious disease skos:exactMatch UMLS:C0275742 semapv:UnspecifiedMatching MONDO:0001353 Bordetella parapertussis infectious disease skos:exactMatch icd11.foundation:704491122 Whooping cough due to Bordetella parapertussis semapv:UnspecifiedMatching MONDO:0001355 ocular siderosis skos:exactMatch DOID:11754 siderosis of eye semapv:UnspecifiedMatching MONDO:0001355 ocular siderosis skos:exactMatch ICD10CM:H44.32 Siderosis of eye semapv:UnspecifiedMatching MONDO:0001355 ocular siderosis skos:exactMatch MEDGEN:543098 semapv:UnspecifiedMatching MONDO:0001355 ocular siderosis skos:exactMatch SCTID:25277000 semapv:UnspecifiedMatching MONDO:0001355 ocular siderosis skos:exactMatch UMLS:C0271001 semapv:UnspecifiedMatching MONDO:0001356 iron deficiency anemia skos:exactMatch DOID:11758 iron deficiency anemia semapv:UnspecifiedMatching MONDO:0001356 iron deficiency anemia skos:exactMatch ICD10CM:D50 Iron deficiency anemia semapv:UnspecifiedMatching MONDO:0001356 iron deficiency anemia skos:exactMatch MEDGEN:57668 semapv:UnspecifiedMatching MONDO:0001356 iron deficiency anemia skos:exactMatch NCIT:C84484 Iron-Deficiency Anemia semapv:UnspecifiedMatching MONDO:0001356 iron deficiency anemia skos:exactMatch SCTID:87522002 semapv:UnspecifiedMatching MONDO:0001356 iron deficiency anemia skos:exactMatch UMLS:C0162316 semapv:UnspecifiedMatching MONDO:0001356 iron deficiency anemia skos:exactMatch mesh:D018798 semapv:UnspecifiedMatching MONDO:0001357 hypochromic anemia skos:exactMatch DOID:11759 hypochromic anemia semapv:UnspecifiedMatching MONDO:0001357 hypochromic anemia skos:exactMatch MEDGEN:8065 semapv:UnspecifiedMatching MONDO:0001357 hypochromic anemia skos:exactMatch NCIT:C34380 Hypochromic Anemia semapv:UnspecifiedMatching MONDO:0001357 hypochromic anemia skos:exactMatch SCTID:44452003 semapv:UnspecifiedMatching MONDO:0001357 hypochromic anemia skos:exactMatch UMLS:C0002884 semapv:UnspecifiedMatching MONDO:0001358 bronchial disorder skos:exactMatch DOID:1176 bronchial disease semapv:UnspecifiedMatching MONDO:0001358 bronchial disorder skos:exactMatch EFO:1002018 semapv:UnspecifiedMatching MONDO:0001358 bronchial disorder skos:exactMatch MEDGEN:14233 semapv:UnspecifiedMatching MONDO:0001358 bronchial disorder skos:exactMatch NCIT:C34439 Bronchospasm semapv:UnspecifiedMatching MONDO:0001358 bronchial disorder skos:exactMatch SCTID:41427001 semapv:UnspecifiedMatching MONDO:0001358 bronchial disorder skos:exactMatch UMLS:C0006261 semapv:UnspecifiedMatching MONDO:0001358 bronchial disorder skos:exactMatch mesh:D001982 semapv:UnspecifiedMatching MONDO:0001360 blind hypotensive eye skos:exactMatch DOID:11766 blind hypotensive eye semapv:UnspecifiedMatching MONDO:0001360 blind hypotensive eye skos:exactMatch MEDGEN:509659 semapv:UnspecifiedMatching MONDO:0001360 blind hypotensive eye skos:exactMatch SCTID:23360000 semapv:UnspecifiedMatching MONDO:0001360 blind hypotensive eye skos:exactMatch UMLS:C0154788 semapv:UnspecifiedMatching MONDO:0001361 spontaneous ocular nystagmus skos:exactMatch DOID:11771 spontaneous ocular nystagmus semapv:UnspecifiedMatching MONDO:0001361 spontaneous ocular nystagmus skos:exactMatch ICD10CM:H55.03 Visual deprivation nystagmus semapv:UnspecifiedMatching MONDO:0001361 spontaneous ocular nystagmus skos:exactMatch MEDGEN:75748 semapv:UnspecifiedMatching MONDO:0001361 spontaneous ocular nystagmus skos:exactMatch SCTID:45339001 semapv:UnspecifiedMatching MONDO:0001361 spontaneous ocular nystagmus skos:exactMatch UMLS:C0271384 semapv:UnspecifiedMatching MONDO:0001362 obsolete leukocoria skos:exactMatch DOID:11772 leukocoria semapv:UnspecifiedMatching MONDO:0001362 obsolete leukocoria skos:exactMatch SCTID:1361009 semapv:UnspecifiedMatching MONDO:0001363 blind hypertensive eye skos:exactMatch DOID:11776 absolute glaucoma semapv:UnspecifiedMatching MONDO:0001363 blind hypertensive eye skos:exactMatch MEDGEN:509660 semapv:UnspecifiedMatching MONDO:0001363 blind hypertensive eye skos:exactMatch SCTID:264008 semapv:UnspecifiedMatching MONDO:0001363 blind hypertensive eye skos:exactMatch UMLS:C0154789 semapv:UnspecifiedMatching MONDO:0001364 regular astigmatism skos:exactMatch DOID:11781 regular astigmatism semapv:UnspecifiedMatching MONDO:0001364 regular astigmatism skos:exactMatch ICD10CM:H52.22 Regular astigmatism semapv:UnspecifiedMatching MONDO:0001364 regular astigmatism skos:exactMatch MEDGEN:508921 semapv:UnspecifiedMatching MONDO:0001364 regular astigmatism skos:exactMatch SCTID:68905002 semapv:UnspecifiedMatching MONDO:0001364 regular astigmatism skos:exactMatch UMLS:C0152193 semapv:UnspecifiedMatching MONDO:0001364 regular astigmatism skos:exactMatch icd11.foundation:879600754 Regular astigmatism semapv:UnspecifiedMatching MONDO:0001365 necrosis of ear ossicle skos:exactMatch DOID:11783 necrosis of ear ossicle semapv:UnspecifiedMatching MONDO:0001366 splenic sequestration skos:exactMatch DOID:11786 splenic sequestration semapv:UnspecifiedMatching MONDO:0001366 splenic sequestration skos:exactMatch MEDGEN:1843463 semapv:UnspecifiedMatching MONDO:0001366 splenic sequestration skos:exactMatch UMLS:C1260402 semapv:UnspecifiedMatching MONDO:0001367 chronic congestive splenomegaly skos:exactMatch DOID:11787 chronic congestive splenomegaly semapv:UnspecifiedMatching MONDO:0001367 chronic congestive splenomegaly skos:exactMatch ICD10CM:D73.2 Chronic congestive splenomegaly semapv:UnspecifiedMatching MONDO:0001367 chronic congestive splenomegaly skos:exactMatch MEDGEN:584995 semapv:UnspecifiedMatching MONDO:0001367 chronic congestive splenomegaly skos:exactMatch SCTID:191382009 semapv:UnspecifiedMatching MONDO:0001367 chronic congestive splenomegaly skos:exactMatch UMLS:C0398661 semapv:UnspecifiedMatching MONDO:0001367 chronic congestive splenomegaly skos:exactMatch icd11.foundation:140794056 Chronic congestive splenomegaly semapv:UnspecifiedMatching MONDO:0001368 phthisical cornea skos:exactMatch DOID:11793 phthisical cornea semapv:UnspecifiedMatching MONDO:0001368 phthisical cornea skos:exactMatch MEDGEN:509789 semapv:UnspecifiedMatching MONDO:0001368 phthisical cornea skos:exactMatch SCTID:28143002 semapv:UnspecifiedMatching MONDO:0001368 phthisical cornea skos:exactMatch UMLS:C0155102 semapv:UnspecifiedMatching MONDO:0001369 chronic laryngitis skos:exactMatch DOID:11797 chronic laryngitis semapv:UnspecifiedMatching MONDO:0001369 chronic laryngitis skos:exactMatch ICD10CM:J37.0 Chronic laryngitis semapv:UnspecifiedMatching MONDO:0001369 chronic laryngitis skos:exactMatch MEDGEN:102342 semapv:UnspecifiedMatching MONDO:0001369 chronic laryngitis skos:exactMatch NCIT:C26975 Chronic Laryngitis semapv:UnspecifiedMatching MONDO:0001369 chronic laryngitis skos:exactMatch SCTID:29951006 semapv:UnspecifiedMatching MONDO:0001369 chronic laryngitis skos:exactMatch UMLS:C0155836 semapv:UnspecifiedMatching MONDO:0001369 chronic laryngitis skos:exactMatch icd11.foundation:2009723608 Chronic laryngitis semapv:UnspecifiedMatching MONDO:0001370 pericardial effusion skos:exactMatch DOID:118 pericardial effusion semapv:UnspecifiedMatching MONDO:0001370 pericardial effusion skos:exactMatch MEDGEN:10653 semapv:UnspecifiedMatching MONDO:0001370 pericardial effusion skos:exactMatch NCIT:C3319 Pericardial Effusion semapv:UnspecifiedMatching MONDO:0001370 pericardial effusion skos:exactMatch SCTID:373945007 semapv:UnspecifiedMatching MONDO:0001370 pericardial effusion skos:exactMatch UMLS:C0031039 semapv:UnspecifiedMatching MONDO:0001370 pericardial effusion skos:exactMatch icd11.foundation:2002014072 Pericardial effusion semapv:UnspecifiedMatching MONDO:0001370 pericardial effusion skos:exactMatch mesh:D010490 semapv:UnspecifiedMatching MONDO:0001371 protein-energy malnutrition skos:exactMatch DOID:11801 protein-energy malnutrition semapv:UnspecifiedMatching MONDO:0001371 protein-energy malnutrition skos:exactMatch EFO:0009563 semapv:UnspecifiedMatching MONDO:0001371 protein-energy malnutrition skos:exactMatch MEDGEN:19521 semapv:UnspecifiedMatching MONDO:0001371 protein-energy malnutrition skos:exactMatch NCIT:C34952 Protein Energy Malnutrition semapv:UnspecifiedMatching MONDO:0001371 protein-energy malnutrition skos:exactMatch SCTID:238107002 semapv:UnspecifiedMatching MONDO:0001371 protein-energy malnutrition skos:exactMatch UMLS:C0033677 semapv:UnspecifiedMatching MONDO:0001371 protein-energy malnutrition skos:exactMatch mesh:D011502 semapv:UnspecifiedMatching MONDO:0001372 bladder neck cancer skos:exactMatch DOID:11809 bladder neck cancer semapv:UnspecifiedMatching MONDO:0001372 bladder neck cancer skos:exactMatch MEDGEN:509341 semapv:UnspecifiedMatching MONDO:0001372 bladder neck cancer skos:exactMatch SCTID:188244007 semapv:UnspecifiedMatching MONDO:0001372 bladder neck cancer skos:exactMatch UMLS:C0153613 semapv:UnspecifiedMatching MONDO:0001372 bladder neck cancer skos:exactMatch icd11.foundation:1229451428 Malignant neoplasm of bladder neck semapv:UnspecifiedMatching MONDO:0001373 urinary bladder posterior wall cancer skos:exactMatch DOID:11811 urinary bladder posterior wall cancer semapv:UnspecifiedMatching MONDO:0001373 urinary bladder posterior wall cancer skos:exactMatch MEDGEN:509340 semapv:UnspecifiedMatching MONDO:0001373 urinary bladder posterior wall cancer skos:exactMatch SCTID:188243001 semapv:UnspecifiedMatching MONDO:0001373 urinary bladder posterior wall cancer skos:exactMatch UMLS:C0153612 semapv:UnspecifiedMatching MONDO:0001374 bladder sarcoma skos:exactMatch DOID:11812 bladder sarcoma semapv:UnspecifiedMatching MONDO:0001374 bladder sarcoma skos:exactMatch MEDGEN:87612 semapv:UnspecifiedMatching MONDO:0001374 bladder sarcoma skos:exactMatch NCIT:C4669 Bladder Sarcoma semapv:UnspecifiedMatching MONDO:0001374 bladder sarcoma skos:exactMatch SCTID:278046008 semapv:UnspecifiedMatching MONDO:0001374 bladder sarcoma skos:exactMatch UMLS:C0349666 semapv:UnspecifiedMatching MONDO:0001375 bladder trigone cancer skos:exactMatch DOID:11813 bladder trigone cancer semapv:UnspecifiedMatching MONDO:0001375 bladder trigone cancer skos:exactMatch MEDGEN:635606 semapv:UnspecifiedMatching MONDO:0001375 bladder trigone cancer skos:exactMatch SCTID:188239000 semapv:UnspecifiedMatching MONDO:0001375 bladder trigone cancer skos:exactMatch UMLS:C0496826 semapv:UnspecifiedMatching MONDO:0001376 urinary bladder anterior wall cancer skos:exactMatch DOID:11814 urinary bladder anterior wall cancer semapv:UnspecifiedMatching MONDO:0001376 urinary bladder anterior wall cancer skos:exactMatch MEDGEN:509339 semapv:UnspecifiedMatching MONDO:0001376 urinary bladder anterior wall cancer skos:exactMatch SCTID:188242006 semapv:UnspecifiedMatching MONDO:0001376 urinary bladder anterior wall cancer skos:exactMatch UMLS:C0153611 semapv:UnspecifiedMatching MONDO:0001377 vitreous syneresis skos:exactMatch DOID:11816 vitreous syneresis semapv:UnspecifiedMatching MONDO:0001377 vitreous syneresis skos:exactMatch MEDGEN:509938 semapv:UnspecifiedMatching MONDO:0001377 vitreous syneresis skos:exactMatch SCTID:60189009 semapv:UnspecifiedMatching MONDO:0001377 vitreous syneresis skos:exactMatch UMLS:C0155366 semapv:UnspecifiedMatching MONDO:0001378 urachus cancer skos:exactMatch DOID:11817 urachus cancer semapv:UnspecifiedMatching MONDO:0001378 urachus cancer skos:exactMatch ICD10CM:C67.7 Malignant neoplasm of urachus semapv:UnspecifiedMatching MONDO:0001378 urachus cancer skos:exactMatch MEDGEN:509342 semapv:UnspecifiedMatching MONDO:0001378 urachus cancer skos:exactMatch SCTID:363456000 semapv:UnspecifiedMatching MONDO:0001378 urachus cancer skos:exactMatch UMLS:C0153615 semapv:UnspecifiedMatching MONDO:0001378 urachus cancer skos:exactMatch icd11.foundation:1486974415 Malignant neoplasm of urachus semapv:UnspecifiedMatching MONDO:0001379 ureteric orifice cancer skos:exactMatch DOID:11818 ureteral orifice cancer semapv:UnspecifiedMatching MONDO:0001379 ureteric orifice cancer skos:exactMatch MEDGEN:102280 semapv:UnspecifiedMatching MONDO:0001379 ureteric orifice cancer skos:exactMatch SCTID:188245008 semapv:UnspecifiedMatching MONDO:0001379 ureteric orifice cancer skos:exactMatch UMLS:C0153614 semapv:UnspecifiedMatching MONDO:0001380 bladder dome cancer skos:exactMatch DOID:11820 bladder dome cancer semapv:UnspecifiedMatching MONDO:0001380 bladder dome cancer skos:exactMatch MEDGEN:141677 semapv:UnspecifiedMatching MONDO:0001380 bladder dome cancer skos:exactMatch SCTID:188240003 semapv:UnspecifiedMatching MONDO:0001380 bladder dome cancer skos:exactMatch UMLS:C0496827 semapv:UnspecifiedMatching MONDO:0001381 bladder lymphoma skos:exactMatch DOID:11821 bladder lymphoma semapv:UnspecifiedMatching MONDO:0001381 bladder lymphoma skos:exactMatch MEDGEN:231948 semapv:UnspecifiedMatching MONDO:0001381 bladder lymphoma skos:exactMatch NCIT:C6164 Bladder Lymphoma semapv:UnspecifiedMatching MONDO:0001381 bladder lymphoma skos:exactMatch UMLS:C1332561 semapv:UnspecifiedMatching MONDO:0001382 hepatorenal syndrome skos:exactMatch DOID:11823 hepatorenal syndrome semapv:UnspecifiedMatching MONDO:0001382 hepatorenal syndrome skos:exactMatch ICD10CM:K76.7 Hepatorenal syndrome semapv:UnspecifiedMatching MONDO:0001382 hepatorenal syndrome skos:exactMatch MEDGEN:9224 semapv:UnspecifiedMatching MONDO:0001382 hepatorenal syndrome skos:exactMatch NCIT:C113400 Hepatorenal Syndrome semapv:UnspecifiedMatching MONDO:0001382 hepatorenal syndrome skos:exactMatch SCTID:51292008 semapv:UnspecifiedMatching MONDO:0001382 hepatorenal syndrome skos:exactMatch UMLS:C0019212 semapv:UnspecifiedMatching MONDO:0001382 hepatorenal syndrome skos:exactMatch icd11.foundation:1015890899 Hepatorenal syndrome semapv:UnspecifiedMatching MONDO:0001382 hepatorenal syndrome skos:exactMatch mesh:D006530 semapv:UnspecifiedMatching MONDO:0001383 degenerative myopia skos:exactMatch DOID:11829 degenerative myopia semapv:UnspecifiedMatching MONDO:0001383 degenerative myopia skos:exactMatch ICD10CM:H44.2 Degenerative myopia semapv:UnspecifiedMatching MONDO:0001383 degenerative myopia skos:exactMatch MEDGEN:57597 semapv:UnspecifiedMatching MONDO:0001383 degenerative myopia skos:exactMatch SCTID:32022003 semapv:UnspecifiedMatching MONDO:0001383 degenerative myopia skos:exactMatch UMLS:C0154778 semapv:UnspecifiedMatching MONDO:0001383 degenerative myopia skos:exactMatch mesh:D047728 semapv:UnspecifiedMatching MONDO:0001384 myopia skos:exactMatch DOID:11830 myopia semapv:UnspecifiedMatching MONDO:0001384 myopia skos:exactMatch ICD10CM:H52.1 Myopia semapv:UnspecifiedMatching MONDO:0001384 myopia skos:exactMatch MEDGEN:44558 semapv:UnspecifiedMatching MONDO:0001384 myopia skos:exactMatch OMIMPS:160700 Myopia semapv:UnspecifiedMatching MONDO:0001384 myopia skos:exactMatch SCTID:57190000 semapv:UnspecifiedMatching MONDO:0001384 myopia skos:exactMatch UMLS:C0027092 semapv:UnspecifiedMatching MONDO:0001384 myopia skos:exactMatch icd11.foundation:1666440799 Myopia semapv:UnspecifiedMatching MONDO:0001384 myopia skos:exactMatch mesh:D009216 semapv:UnspecifiedMatching MONDO:0001385 cortical blindness skos:exactMatch DOID:11831 cortical blindness semapv:UnspecifiedMatching MONDO:0001385 cortical blindness skos:exactMatch ICD10CM:H47.61 Cortical blindness semapv:UnspecifiedMatching MONDO:0001385 cortical blindness skos:exactMatch MEDGEN:57834 semapv:UnspecifiedMatching MONDO:0001385 cortical blindness skos:exactMatch NCIT:C118707 Cortical Blindness semapv:UnspecifiedMatching MONDO:0001385 cortical blindness skos:exactMatch SCTID:68574006 semapv:UnspecifiedMatching MONDO:0001385 cortical blindness skos:exactMatch UMLS:C0155320 semapv:UnspecifiedMatching MONDO:0001385 cortical blindness skos:exactMatch mesh:D019575 semapv:UnspecifiedMatching MONDO:0001386 visual epilepsy skos:exactMatch DOID:11832 visual epilepsy semapv:UnspecifiedMatching MONDO:0001386 visual epilepsy skos:exactMatch MEDGEN:75723 semapv:UnspecifiedMatching MONDO:0001386 visual epilepsy skos:exactMatch NCIT:C3980 Visual Epilepsy semapv:UnspecifiedMatching MONDO:0001386 visual epilepsy skos:exactMatch SCTID:39194005 semapv:UnspecifiedMatching MONDO:0001386 visual epilepsy skos:exactMatch UMLS:C0270824 semapv:UnspecifiedMatching MONDO:0001386 visual epilepsy skos:exactMatch mesh:D012640 semapv:UnspecifiedMatching MONDO:0001387 penile sarcoma skos:exactMatch DOID:11838 penis sarcoma semapv:UnspecifiedMatching MONDO:0001387 penile sarcoma skos:exactMatch MEDGEN:65960 semapv:UnspecifiedMatching MONDO:0001387 penile sarcoma skos:exactMatch NCIT:C7730 Penile Sarcoma semapv:UnspecifiedMatching MONDO:0001387 penile sarcoma skos:exactMatch UMLS:C0238352 semapv:UnspecifiedMatching MONDO:0001388 glans penis cancer skos:exactMatch DOID:11839 glans penis cancer semapv:UnspecifiedMatching MONDO:0001388 glans penis cancer skos:exactMatch ICD10CM:C60.1 Malignant neoplasm of glans penis semapv:UnspecifiedMatching MONDO:0001388 glans penis cancer skos:exactMatch MEDGEN:509337 semapv:UnspecifiedMatching MONDO:0001388 glans penis cancer skos:exactMatch NCIT:C194357 Malignant Neoplasm of Glans Penis semapv:UnspecifiedMatching MONDO:0001388 glans penis cancer skos:exactMatch SCTID:363451005 semapv:UnspecifiedMatching MONDO:0001388 glans penis cancer skos:exactMatch UMLS:C0153599 semapv:UnspecifiedMatching MONDO:0001388 glans penis cancer skos:exactMatch icd11.foundation:1971143311 Malignant neoplasm of glans penis semapv:UnspecifiedMatching MONDO:0001390 transient refractive change skos:exactMatch DOID:11850 transient refractive change semapv:UnspecifiedMatching MONDO:0001390 transient refractive change skos:exactMatch MEDGEN:509757 semapv:UnspecifiedMatching MONDO:0001390 transient refractive change skos:exactMatch SCTID:81519008 semapv:UnspecifiedMatching MONDO:0001390 transient refractive change skos:exactMatch UMLS:C0155000 semapv:UnspecifiedMatching MONDO:0001390 transient refractive change skos:exactMatch icd11.foundation:416871389 Transient refractive change semapv:UnspecifiedMatching MONDO:0001391 indeterminate leprosy skos:exactMatch DOID:11851 indeterminate leprosy semapv:UnspecifiedMatching MONDO:0001391 indeterminate leprosy skos:exactMatch ICD10CM:A30.0 Indeterminate leprosy semapv:UnspecifiedMatching MONDO:0001391 indeterminate leprosy skos:exactMatch MEDGEN:507841 semapv:UnspecifiedMatching MONDO:0001391 indeterminate leprosy skos:exactMatch SCTID:14386001 semapv:UnspecifiedMatching MONDO:0001391 indeterminate leprosy skos:exactMatch UMLS:C0021192 semapv:UnspecifiedMatching MONDO:0001391 indeterminate leprosy skos:exactMatch icd11.foundation:2010059430 Indeterminate leprosy semapv:UnspecifiedMatching MONDO:0001392 monocular exotropia skos:exactMatch DOID:11853 monocular exotropia semapv:UnspecifiedMatching MONDO:0001392 monocular exotropia skos:exactMatch ICD10CM:H50.11 Monocular exotropia semapv:UnspecifiedMatching MONDO:0001392 monocular exotropia skos:exactMatch MEDGEN:57752 semapv:UnspecifiedMatching MONDO:0001392 monocular exotropia skos:exactMatch SCTID:5725006 semapv:UnspecifiedMatching MONDO:0001392 monocular exotropia skos:exactMatch UMLS:C0152206 semapv:UnspecifiedMatching MONDO:0001392 monocular exotropia skos:exactMatch icd11.foundation:1732547896 Monocular exotropia semapv:UnspecifiedMatching MONDO:0001393 peripheral focal chorioretinitis skos:exactMatch DOID:11864 peripheral focal chorioretinitis semapv:UnspecifiedMatching MONDO:0001393 peripheral focal chorioretinitis skos:exactMatch MEDGEN:573121 semapv:UnspecifiedMatching MONDO:0001393 peripheral focal chorioretinitis skos:exactMatch SCTID:56787009 semapv:UnspecifiedMatching MONDO:0001393 peripheral focal chorioretinitis skos:exactMatch UMLS:C0339394 semapv:UnspecifiedMatching MONDO:0001395 macular keratitis skos:exactMatch DOID:11871 macular keratitis semapv:UnspecifiedMatching MONDO:0001395 macular keratitis skos:exactMatch ICD10CM:H16.11 Macular keratitis semapv:UnspecifiedMatching MONDO:0001395 macular keratitis skos:exactMatch MEDGEN:509772 semapv:UnspecifiedMatching MONDO:0001395 macular keratitis skos:exactMatch SCTID:2853006 semapv:UnspecifiedMatching MONDO:0001395 macular keratitis skos:exactMatch UMLS:C0155076 semapv:UnspecifiedMatching MONDO:0001395 macular keratitis skos:exactMatch icd11.foundation:1283506871 Macular keratitis semapv:UnspecifiedMatching MONDO:0001396 abnormal threshold of rods skos:exactMatch DOID:11874 abnormal threshold of rods semapv:UnspecifiedMatching MONDO:0001396 abnormal threshold of rods skos:exactMatch ICD10CM:H53.61 Abnormal dark adaptation curve semapv:UnspecifiedMatching MONDO:0001396 abnormal threshold of rods skos:exactMatch MEDGEN:509764 semapv:UnspecifiedMatching MONDO:0001396 abnormal threshold of rods skos:exactMatch SCTID:50455002 semapv:UnspecifiedMatching MONDO:0001396 abnormal threshold of rods skos:exactMatch UMLS:C0155019 semapv:UnspecifiedMatching MONDO:0001397 mononeuropathy skos:exactMatch DOID:1188 mononeuropathy semapv:UnspecifiedMatching MONDO:0001397 mononeuropathy skos:exactMatch EFO:0009558 semapv:UnspecifiedMatching MONDO:0001397 mononeuropathy skos:exactMatch MEDGEN:99214 semapv:UnspecifiedMatching MONDO:0001397 mononeuropathy skos:exactMatch SCTID:128189008 semapv:UnspecifiedMatching MONDO:0001397 mononeuropathy skos:exactMatch UMLS:C0494491 semapv:UnspecifiedMatching MONDO:0001397 mononeuropathy skos:exactMatch icd11.foundation:1866592137 Mononeuropathy semapv:UnspecifiedMatching MONDO:0001397 mononeuropathy skos:exactMatch mesh:D020422 semapv:UnspecifiedMatching MONDO:0001398 ureter benign neoplasm skos:exactMatch DOID:11885 ureteral benign neoplasm semapv:UnspecifiedMatching MONDO:0001398 ureter benign neoplasm skos:exactMatch ICD10CM:D30.2 Benign neoplasm of ureter semapv:UnspecifiedMatching MONDO:0001398 ureter benign neoplasm skos:exactMatch MEDGEN:102303 semapv:UnspecifiedMatching MONDO:0001398 ureter benign neoplasm skos:exactMatch NCIT:C3617 Benign Ureter Neoplasm semapv:UnspecifiedMatching MONDO:0001398 ureter benign neoplasm skos:exactMatch SCTID:92464009 semapv:UnspecifiedMatching MONDO:0001398 ureter benign neoplasm skos:exactMatch UMLS:C0154016 semapv:UnspecifiedMatching MONDO:0001398 ureter benign neoplasm skos:exactMatch icd11.foundation:1233876028 Benign neoplasm of ureter semapv:UnspecifiedMatching MONDO:0001399 ureter leiomyoma skos:exactMatch DOID:11887 ureter leiomyoma semapv:UnspecifiedMatching MONDO:0001399 ureter leiomyoma skos:exactMatch MEDGEN:234457 semapv:UnspecifiedMatching MONDO:0001399 ureter leiomyoma skos:exactMatch NCIT:C6161 Ureter Leiomyoma semapv:UnspecifiedMatching MONDO:0001399 ureter leiomyoma skos:exactMatch UMLS:C1336875 semapv:UnspecifiedMatching MONDO:0001400 schwannoma of ureter skos:exactMatch DOID:11888 schwannoma of ureter semapv:UnspecifiedMatching MONDO:0001400 schwannoma of ureter skos:exactMatch MEDGEN:234459 semapv:UnspecifiedMatching MONDO:0001400 schwannoma of ureter skos:exactMatch NCIT:C6162 Ureter Schwannoma semapv:UnspecifiedMatching MONDO:0001400 schwannoma of ureter skos:exactMatch UMLS:C1336877 semapv:UnspecifiedMatching MONDO:0001401 female breast nipple and areola cancer skos:exactMatch DOID:11889 female breast nipple and areola cancer semapv:UnspecifiedMatching MONDO:0001401 female breast nipple and areola cancer skos:exactMatch MEDGEN:507933 semapv:UnspecifiedMatching MONDO:0001401 female breast nipple and areola cancer skos:exactMatch SCTID:188147009 semapv:UnspecifiedMatching MONDO:0001401 female breast nipple and areola cancer skos:exactMatch UMLS:C0024621 semapv:UnspecifiedMatching MONDO:0001402 vaginal cancer skos:exactMatch DOID:119 vaginal cancer semapv:UnspecifiedMatching MONDO:0001402 vaginal cancer skos:exactMatch ICD10CM:C52 Malignant neoplasm of vagina semapv:UnspecifiedMatching MONDO:0001402 vaginal cancer skos:exactMatch MEDGEN:12040 semapv:UnspecifiedMatching MONDO:0001402 vaginal cancer skos:exactMatch NCIT:C7410 Malignant Vaginal Neoplasm semapv:UnspecifiedMatching MONDO:0001402 vaginal cancer skos:exactMatch SCTID:363445000 semapv:UnspecifiedMatching MONDO:0001402 vaginal cancer skos:exactMatch UMLS:C0042237 semapv:UnspecifiedMatching MONDO:0001402 vaginal cancer skos:exactMatch icd11.foundation:798353632 Malignant neoplasms of vagina semapv:UnspecifiedMatching MONDO:0001402 vaginal cancer skos:exactMatch mesh:D014625 semapv:UnspecifiedMatching MONDO:0001403 labium majus cancer skos:exactMatch DOID:11905 labium majus cancer semapv:UnspecifiedMatching MONDO:0001403 labium majus cancer skos:exactMatch MEDGEN:96920 semapv:UnspecifiedMatching MONDO:0001403 labium majus cancer skos:exactMatch NCIT:C7638 Malignant Labia Majora Neoplasm semapv:UnspecifiedMatching MONDO:0001403 labium majus cancer skos:exactMatch SCTID:363446004 semapv:UnspecifiedMatching MONDO:0001403 labium majus cancer skos:exactMatch UMLS:C0496814 semapv:UnspecifiedMatching MONDO:0001404 ecthyma skos:exactMatch DOID:11907 ecthyma semapv:UnspecifiedMatching MONDO:0001404 ecthyma skos:exactMatch MEDGEN:8541 semapv:UnspecifiedMatching MONDO:0001404 ecthyma skos:exactMatch SCTID:85791004 semapv:UnspecifiedMatching MONDO:0001404 ecthyma skos:exactMatch UMLS:C0013568 semapv:UnspecifiedMatching MONDO:0001404 ecthyma skos:exactMatch icd11.foundation:337308923 Ecthyma semapv:UnspecifiedMatching MONDO:0001404 ecthyma skos:exactMatch mesh:D004473 semapv:UnspecifiedMatching MONDO:0001405 dermatophytosis of groin and perianal area skos:exactMatch DOID:11917 tinea cruris semapv:UnspecifiedMatching MONDO:0001405 dermatophytosis of groin and perianal area skos:exactMatch MEDGEN:3769 semapv:UnspecifiedMatching MONDO:0001405 dermatophytosis of groin and perianal area skos:exactMatch NCIT:C34535 Dermatophytosis of Groin and Perianal Area semapv:UnspecifiedMatching MONDO:0001405 dermatophytosis of groin and perianal area skos:exactMatch SCTID:399029005 semapv:UnspecifiedMatching MONDO:0001405 dermatophytosis of groin and perianal area skos:exactMatch UMLS:C0011638 semapv:UnspecifiedMatching MONDO:0001406 peripheral nervous system neoplasm skos:exactMatch DOID:1192 peripheral nervous system neoplasm semapv:UnspecifiedMatching MONDO:0001406 peripheral nervous system neoplasm skos:exactMatch EFO:0002431 semapv:UnspecifiedMatching MONDO:0001406 peripheral nervous system neoplasm skos:exactMatch MEDGEN:45817 semapv:UnspecifiedMatching MONDO:0001406 peripheral nervous system neoplasm skos:exactMatch NCIT:C3321 Peripheral Nervous System Neoplasm semapv:UnspecifiedMatching MONDO:0001406 peripheral nervous system neoplasm skos:exactMatch SCTID:126980002 semapv:UnspecifiedMatching MONDO:0001406 peripheral nervous system neoplasm skos:exactMatch UMLS:C0031118 semapv:UnspecifiedMatching MONDO:0001406 peripheral nervous system neoplasm skos:exactMatch mesh:D010524 semapv:UnspecifiedMatching MONDO:0001407 tracheal cancer skos:exactMatch DOID:11920 tracheal cancer semapv:UnspecifiedMatching MONDO:0001407 tracheal cancer skos:exactMatch ICD10CM:C33 Malignant neoplasm of trachea semapv:UnspecifiedMatching MONDO:0001407 tracheal cancer skos:exactMatch MEDGEN:102274 semapv:UnspecifiedMatching MONDO:0001407 tracheal cancer skos:exactMatch NCIT:C9346 Malignant Tracheal Neoplasm semapv:UnspecifiedMatching MONDO:0001407 tracheal cancer skos:exactMatch SCTID:363432004 semapv:UnspecifiedMatching MONDO:0001407 tracheal cancer skos:exactMatch UMLS:C0153489 semapv:UnspecifiedMatching MONDO:0001407 tracheal cancer skos:exactMatch icd11.foundation:1630573405 Malignant neoplasms of trachea semapv:UnspecifiedMatching MONDO:0001408 ischemic neuropathy skos:exactMatch DOID:1195 ischemic neuropathy semapv:UnspecifiedMatching MONDO:0001408 ischemic neuropathy skos:exactMatch MEDGEN:116055 semapv:UnspecifiedMatching MONDO:0001408 ischemic neuropathy skos:exactMatch NCIT:C27025 Ischemic Neuropathy semapv:UnspecifiedMatching MONDO:0001408 ischemic neuropathy skos:exactMatch SCTID:129611009 semapv:UnspecifiedMatching MONDO:0001408 ischemic neuropathy skos:exactMatch UMLS:C0238309 semapv:UnspecifiedMatching MONDO:0001409 esophagitis skos:exactMatch DOID:11963 esophagitis semapv:UnspecifiedMatching MONDO:0001409 esophagitis skos:exactMatch ICD10CM:K20 Esophagitis semapv:UnspecifiedMatching MONDO:0001409 esophagitis skos:exactMatch MEDGEN:4549 semapv:UnspecifiedMatching MONDO:0001409 esophagitis skos:exactMatch NCIT:C9224 Esophagitis semapv:UnspecifiedMatching MONDO:0001409 esophagitis skos:exactMatch SCTID:16761005 semapv:UnspecifiedMatching MONDO:0001409 esophagitis skos:exactMatch UMLS:C0014868 semapv:UnspecifiedMatching MONDO:0001409 esophagitis skos:exactMatch icd11.foundation:1540965840 Oesophagitis semapv:UnspecifiedMatching MONDO:0001409 esophagitis skos:exactMatch mesh:D004941 semapv:UnspecifiedMatching MONDO:0001410 postmenopausal atrophic vaginitis skos:exactMatch DOID:11968 postmenopausal atrophic vaginitis semapv:UnspecifiedMatching MONDO:0001410 postmenopausal atrophic vaginitis skos:exactMatch ICD10CM:N95.2 Postmenopausal atrophic vaginitis semapv:UnspecifiedMatching MONDO:0001410 postmenopausal atrophic vaginitis skos:exactMatch MEDGEN:510282 semapv:UnspecifiedMatching MONDO:0001410 postmenopausal atrophic vaginitis skos:exactMatch SCTID:52441000 semapv:UnspecifiedMatching MONDO:0001410 postmenopausal atrophic vaginitis skos:exactMatch UMLS:C0156409 semapv:UnspecifiedMatching MONDO:0001410 postmenopausal atrophic vaginitis skos:exactMatch icd11.foundation:1876048433 Postmenopausal atrophic vaginitis semapv:UnspecifiedMatching MONDO:0001410 postmenopausal atrophic vaginitis skos:exactMatch mesh:D059268 semapv:UnspecifiedMatching MONDO:0001411 synostosis skos:exactMatch DOID:11971 synostosis semapv:UnspecifiedMatching MONDO:0001411 synostosis skos:exactMatch MEDGEN:11689 semapv:UnspecifiedMatching MONDO:0001411 synostosis skos:exactMatch UMLS:C0039093 semapv:UnspecifiedMatching MONDO:0001411 synostosis skos:exactMatch mesh:D013580 semapv:UnspecifiedMatching MONDO:0001412 conjunctival concretion skos:exactMatch DOID:11988 conjunctival concretion semapv:UnspecifiedMatching MONDO:0001412 conjunctival concretion skos:exactMatch MEDGEN:509822 semapv:UnspecifiedMatching MONDO:0001412 conjunctival concretion skos:exactMatch SCTID:13706005 semapv:UnspecifiedMatching MONDO:0001412 conjunctival concretion skos:exactMatch UMLS:C0155162 semapv:UnspecifiedMatching MONDO:0001412 conjunctival concretion skos:exactMatch icd11.foundation:1215003615 Conjunctival concretions semapv:UnspecifiedMatching MONDO:0001413 ulceroglandular tularemia skos:exactMatch DOID:11990 ulceroglandular tularemia semapv:UnspecifiedMatching MONDO:0001413 ulceroglandular tularemia skos:exactMatch ICD10CM:A21.0 Ulceroglandular tularemia semapv:UnspecifiedMatching MONDO:0001413 ulceroglandular tularemia skos:exactMatch MEDGEN:509087 semapv:UnspecifiedMatching MONDO:0001413 ulceroglandular tularemia skos:exactMatch SCTID:37722001 semapv:UnspecifiedMatching MONDO:0001413 ulceroglandular tularemia skos:exactMatch UMLS:C0152941 semapv:UnspecifiedMatching MONDO:0001414 osteopoikilosis skos:exactMatch DOID:11991 osteopoikilosis semapv:UnspecifiedMatching MONDO:0001414 osteopoikilosis skos:exactMatch MEDGEN:45251 semapv:UnspecifiedMatching MONDO:0001414 osteopoikilosis skos:exactMatch NCIT:C84985 Osteopoikilosis semapv:UnspecifiedMatching MONDO:0001414 osteopoikilosis skos:exactMatch SCTID:9147009 semapv:UnspecifiedMatching MONDO:0001414 osteopoikilosis skos:exactMatch UMLS:C0029455 semapv:UnspecifiedMatching MONDO:0001414 osteopoikilosis skos:exactMatch icd11.foundation:801926378 Osteopoikilosis semapv:UnspecifiedMatching MONDO:0001414 osteopoikilosis skos:exactMatch mesh:D010023 semapv:UnspecifiedMatching MONDO:0001415 atrophy of testis skos:exactMatch DOID:11994 atrophy of testis semapv:UnspecifiedMatching MONDO:0001415 atrophy of testis skos:exactMatch ICD10CM:N50.0 Atrophy of testis semapv:UnspecifiedMatching MONDO:0001415 atrophy of testis skos:exactMatch MEDGEN:57626 semapv:UnspecifiedMatching MONDO:0001415 atrophy of testis skos:exactMatch NCIT:C123259 Testicular Atrophy semapv:UnspecifiedMatching MONDO:0001415 atrophy of testis skos:exactMatch SCTID:17585008 semapv:UnspecifiedMatching MONDO:0001415 atrophy of testis skos:exactMatch UMLS:C0156312 semapv:UnspecifiedMatching MONDO:0001415 atrophy of testis skos:exactMatch icd11.foundation:1735709719 Atrophy of testis semapv:UnspecifiedMatching MONDO:0001416 female reproductive organ cancer skos:exactMatch DOID:120 female reproductive organ cancer semapv:UnspecifiedMatching MONDO:0001416 female reproductive organ cancer skos:exactMatch EFO:1001331 semapv:UnspecifiedMatching MONDO:0001416 female reproductive organ cancer skos:exactMatch ICD10CM:C51-C58 Malignant neoplasms of female genital organs (C51-C58) semapv:UnspecifiedMatching MONDO:0001416 female reproductive organ cancer skos:exactMatch MEDGEN:195944 semapv:UnspecifiedMatching MONDO:0001416 female reproductive organ cancer skos:exactMatch NCIT:C4913 Malignant Female Reproductive System Neoplasm semapv:UnspecifiedMatching MONDO:0001416 female reproductive organ cancer skos:exactMatch SCTID:126907002 semapv:UnspecifiedMatching MONDO:0001416 female reproductive organ cancer skos:exactMatch UMLS:C0699889 semapv:UnspecifiedMatching MONDO:0001417 tracheal lymphoma skos:exactMatch DOID:12001 tracheal lymphoma semapv:UnspecifiedMatching MONDO:0001417 tracheal lymphoma skos:exactMatch MEDGEN:277825 semapv:UnspecifiedMatching MONDO:0001417 tracheal lymphoma skos:exactMatch NCIT:C6248 Tracheal Lymphoma semapv:UnspecifiedMatching MONDO:0001417 tracheal lymphoma skos:exactMatch UMLS:C1336773 semapv:UnspecifiedMatching MONDO:0001418 trachea sarcoma skos:exactMatch DOID:12002 trachea sarcoma semapv:UnspecifiedMatching MONDO:0001418 trachea sarcoma skos:exactMatch MEDGEN:237016 semapv:UnspecifiedMatching MONDO:0001418 trachea sarcoma skos:exactMatch NCIT:C6050 Tracheal Sarcoma semapv:UnspecifiedMatching MONDO:0001418 trachea sarcoma skos:exactMatch UMLS:C1336774 semapv:UnspecifiedMatching MONDO:0001419 trachea squamous cell carcinoma skos:exactMatch DOID:12003 trachea squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0001419 trachea squamous cell carcinoma skos:exactMatch EFO:1000600 semapv:UnspecifiedMatching MONDO:0001419 trachea squamous cell carcinoma skos:exactMatch MEDGEN:91059 semapv:UnspecifiedMatching MONDO:0001419 trachea squamous cell carcinoma skos:exactMatch NCIT:C4448 Tracheal Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0001419 trachea squamous cell carcinoma skos:exactMatch SCTID:254620000 semapv:UnspecifiedMatching MONDO:0001419 trachea squamous cell carcinoma skos:exactMatch UMLS:C0345946 semapv:UnspecifiedMatching MONDO:0001419 trachea squamous cell carcinoma skos:exactMatch icd11.foundation:1439188070 Squamous cell carcinoma of trachea semapv:UnspecifiedMatching MONDO:0001420 trigeminal nerve neoplasm skos:exactMatch DOID:1201 trigeminal nerve neoplasm semapv:UnspecifiedMatching MONDO:0001420 trigeminal nerve neoplasm skos:exactMatch MEDGEN:226812 semapv:UnspecifiedMatching MONDO:0001420 trigeminal nerve neoplasm skos:exactMatch NCIT:C5122 Trigeminal Nerve Neoplasm semapv:UnspecifiedMatching MONDO:0001420 trigeminal nerve neoplasm skos:exactMatch SCTID:126971002 semapv:UnspecifiedMatching MONDO:0001420 trigeminal nerve neoplasm skos:exactMatch UMLS:C1263897 semapv:UnspecifiedMatching MONDO:0001421 frontal lobe neoplasm skos:exactMatch DOID:12016 frontal lobe neoplasm semapv:UnspecifiedMatching MONDO:0001421 frontal lobe neoplasm skos:exactMatch MEDGEN:224730 semapv:UnspecifiedMatching MONDO:0001421 frontal lobe neoplasm skos:exactMatch NCIT:C5572 Frontal Lobe Neoplasm semapv:UnspecifiedMatching MONDO:0001421 frontal lobe neoplasm skos:exactMatch SCTID:126954003 semapv:UnspecifiedMatching MONDO:0001421 frontal lobe neoplasm skos:exactMatch UMLS:C1263886 semapv:UnspecifiedMatching MONDO:0001422 primary aldosteronism skos:exactMatch DOID:12028 Conn's syndrome semapv:UnspecifiedMatching MONDO:0001422 primary aldosteronism skos:exactMatch ICD10CM:E26.0 Primary hyperaldosteronism semapv:UnspecifiedMatching MONDO:0001422 primary aldosteronism skos:exactMatch ICD10CM:E26.01 Conn's syndrome semapv:UnspecifiedMatching MONDO:0001422 primary aldosteronism skos:exactMatch MEDGEN:278002 semapv:UnspecifiedMatching MONDO:0001422 primary aldosteronism skos:exactMatch NCIT:C34510 Conn Syndrome semapv:UnspecifiedMatching MONDO:0001422 primary aldosteronism skos:exactMatch SCTID:190507007 semapv:UnspecifiedMatching MONDO:0001422 primary aldosteronism skos:exactMatch UMLS:C1384514 semapv:UnspecifiedMatching MONDO:0001422 primary aldosteronism skos:exactMatch icd11.foundation:197924221 Primary hyperaldosteronism semapv:UnspecifiedMatching MONDO:0001423 drug-induced mental disorder skos:exactMatch DOID:1203 drug-induced mental disorder semapv:UnspecifiedMatching MONDO:0001423 drug-induced mental disorder skos:exactMatch MEDGEN:1843491 semapv:UnspecifiedMatching MONDO:0001423 drug-induced mental disorder skos:exactMatch UMLS:C0154330 semapv:UnspecifiedMatching MONDO:0001424 obsolete sarcoid meningitis skos:exactMatch DOID:12055 sarcoid meningitis semapv:UnspecifiedMatching MONDO:0001424 obsolete sarcoid meningitis skos:exactMatch ICD10CM:D86.81 Sarcoid meningitis semapv:UnspecifiedMatching MONDO:0001424 obsolete sarcoid meningitis skos:exactMatch SCTID:192673008 semapv:UnspecifiedMatching MONDO:0001426 mediastinum neurofibroma skos:exactMatch DOID:12064 mediastinum neurofibroma semapv:UnspecifiedMatching MONDO:0001426 mediastinum neurofibroma skos:exactMatch MEDGEN:277354 semapv:UnspecifiedMatching MONDO:0001426 mediastinum neurofibroma skos:exactMatch NCIT:C6631 Mediastinal Neurofibroma semapv:UnspecifiedMatching MONDO:0001426 mediastinum neurofibroma skos:exactMatch UMLS:C1334674 semapv:UnspecifiedMatching MONDO:0001427 Dieulafoy lesion skos:exactMatch DOID:12070 Dieulafoy lesion semapv:UnspecifiedMatching MONDO:0001427 Dieulafoy lesion skos:exactMatch ICD10CM:K31.82 Dieulafoy lesion (hemorrhagic) of stomach and duodenum semapv:UnspecifiedMatching MONDO:0001427 Dieulafoy lesion skos:exactMatch MEDGEN:574250 semapv:UnspecifiedMatching MONDO:0001427 Dieulafoy lesion skos:exactMatch SCTID:109558001 semapv:UnspecifiedMatching MONDO:0001427 Dieulafoy lesion skos:exactMatch UMLS:C0341217 semapv:UnspecifiedMatching MONDO:0001428 pylorospasm skos:exactMatch DOID:12072 pylorospasm semapv:UnspecifiedMatching MONDO:0001428 pylorospasm skos:exactMatch MEDGEN:508908 semapv:UnspecifiedMatching MONDO:0001428 pylorospasm skos:exactMatch SCTID:335002 semapv:UnspecifiedMatching MONDO:0001428 pylorospasm skos:exactMatch UMLS:C0152163 semapv:UnspecifiedMatching MONDO:0001429 transient arthropathy skos:exactMatch DOID:12084 transient arthropathy semapv:UnspecifiedMatching MONDO:0001429 transient arthropathy skos:exactMatch MEDGEN:101813 semapv:UnspecifiedMatching MONDO:0001429 transient arthropathy skos:exactMatch NCIT:C35761 Transient Arthropathy semapv:UnspecifiedMatching MONDO:0001429 transient arthropathy skos:exactMatch SCTID:66191007 semapv:UnspecifiedMatching MONDO:0001429 transient arthropathy skos:exactMatch UMLS:C0152083 semapv:UnspecifiedMatching MONDO:0001429 transient arthropathy skos:exactMatch icd11.foundation:404860910 Transient arthropathy semapv:UnspecifiedMatching MONDO:0001430 deep corneal vascularisation skos:exactMatch DOID:12087 deep corneal vascularisation semapv:UnspecifiedMatching MONDO:0001430 deep corneal vascularisation skos:exactMatch ICD10CM:H16.44 Deep vascularization of cornea semapv:UnspecifiedMatching MONDO:0001430 deep corneal vascularisation skos:exactMatch MEDGEN:509784 semapv:UnspecifiedMatching MONDO:0001430 deep corneal vascularisation skos:exactMatch SCTID:2102007 semapv:UnspecifiedMatching MONDO:0001430 deep corneal vascularisation skos:exactMatch UMLS:C0155095 semapv:UnspecifiedMatching MONDO:0001430 deep corneal vascularisation skos:exactMatch icd11.foundation:47603082 Deep vascularization of cornea semapv:UnspecifiedMatching MONDO:0001431 toxic or nutritional optic neuropathy skos:exactMatch DOID:1209 nutritional optic neuropathy semapv:UnspecifiedMatching MONDO:0001431 toxic or nutritional optic neuropathy skos:exactMatch ICD10CM:H46.2 Nutritional optic neuropathy semapv:UnspecifiedMatching MONDO:0001431 toxic or nutritional optic neuropathy skos:exactMatch MEDGEN:509902 semapv:UnspecifiedMatching MONDO:0001431 toxic or nutritional optic neuropathy skos:exactMatch SCTID:82108004 semapv:UnspecifiedMatching MONDO:0001431 toxic or nutritional optic neuropathy skos:exactMatch UMLS:C0155302 semapv:UnspecifiedMatching MONDO:0001433 vaginal disorder skos:exactMatch DOID:121 vaginal disease semapv:UnspecifiedMatching MONDO:0001433 vaginal disorder skos:exactMatch MEDGEN:12042 semapv:UnspecifiedMatching MONDO:0001433 vaginal disorder skos:exactMatch NCIT:C26910 Vaginal Disorder semapv:UnspecifiedMatching MONDO:0001433 vaginal disorder skos:exactMatch SCTID:25658005 semapv:UnspecifiedMatching MONDO:0001433 vaginal disorder skos:exactMatch UMLS:C0042251 semapv:UnspecifiedMatching MONDO:0001433 vaginal disorder skos:exactMatch mesh:D014623 semapv:UnspecifiedMatching MONDO:0001434 inflammatory spondylopathy skos:exactMatch DOID:12105 inflammatory spondylopathy semapv:UnspecifiedMatching MONDO:0001434 inflammatory spondylopathy skos:exactMatch MEDGEN:215416 semapv:UnspecifiedMatching MONDO:0001434 inflammatory spondylopathy skos:exactMatch SCTID:202649003 semapv:UnspecifiedMatching MONDO:0001434 inflammatory spondylopathy skos:exactMatch UMLS:C0949690 semapv:UnspecifiedMatching MONDO:0001435 bullous retinoschisis skos:exactMatch DOID:12108 bullous retinoschisis semapv:UnspecifiedMatching MONDO:0001435 bullous retinoschisis skos:exactMatch MEDGEN:576202 semapv:UnspecifiedMatching MONDO:0001435 bullous retinoschisis skos:exactMatch SCTID:65545003 semapv:UnspecifiedMatching MONDO:0001435 bullous retinoschisis skos:exactMatch UMLS:C0344289 semapv:UnspecifiedMatching MONDO:0001436 hemosiderosis skos:exactMatch DOID:12119 hemosiderosis semapv:UnspecifiedMatching MONDO:0001436 hemosiderosis skos:exactMatch MEDGEN:42409 semapv:UnspecifiedMatching MONDO:0001436 hemosiderosis skos:exactMatch NCIT:C82892 Hemochromatosis semapv:UnspecifiedMatching MONDO:0001436 hemosiderosis skos:exactMatch SCTID:39011001 semapv:UnspecifiedMatching MONDO:0001436 hemosiderosis skos:exactMatch UMLS:C0019114 semapv:UnspecifiedMatching MONDO:0001436 hemosiderosis skos:exactMatch mesh:D006486 semapv:UnspecifiedMatching MONDO:0001437 pulmonary alveolar proteinosis skos:exactMatch DOID:12120 pulmonary alveolar proteinosis semapv:UnspecifiedMatching MONDO:0001437 pulmonary alveolar proteinosis skos:exactMatch MEDGEN:1763046 semapv:UnspecifiedMatching MONDO:0001437 pulmonary alveolar proteinosis skos:exactMatch NCIT:C85037 Pulmonary Alveolar Proteinosis semapv:UnspecifiedMatching MONDO:0001437 pulmonary alveolar proteinosis skos:exactMatch SCTID:10501004 semapv:UnspecifiedMatching MONDO:0001437 pulmonary alveolar proteinosis skos:exactMatch UMLS:C5400698 semapv:UnspecifiedMatching MONDO:0001437 pulmonary alveolar proteinosis skos:exactMatch icd11.foundation:1869739196 Pulmonary alveolar proteinosis semapv:UnspecifiedMatching MONDO:0001437 pulmonary alveolar proteinosis skos:exactMatch mesh:D011649 semapv:UnspecifiedMatching MONDO:0001438 postinflammatory pulmonary fibrosis skos:exactMatch DOID:12123 postinflammatory pulmonary fibrosis semapv:UnspecifiedMatching MONDO:0001438 postinflammatory pulmonary fibrosis skos:exactMatch MEDGEN:511625 semapv:UnspecifiedMatching MONDO:0001438 postinflammatory pulmonary fibrosis skos:exactMatch SCTID:266368002 semapv:UnspecifiedMatching MONDO:0001438 postinflammatory pulmonary fibrosis skos:exactMatch UMLS:C0175999 semapv:UnspecifiedMatching MONDO:0001439 episcleritis periodica fugax skos:exactMatch DOID:12124 episcleritis periodica fugax semapv:UnspecifiedMatching MONDO:0001439 episcleritis periodica fugax skos:exactMatch ICD10CM:H15.11 Episcleritis periodica fugax semapv:UnspecifiedMatching MONDO:0001439 episcleritis periodica fugax skos:exactMatch MEDGEN:509926 semapv:UnspecifiedMatching MONDO:0001439 episcleritis periodica fugax skos:exactMatch SCTID:31166000 semapv:UnspecifiedMatching MONDO:0001439 episcleritis periodica fugax skos:exactMatch UMLS:C0155351 semapv:UnspecifiedMatching MONDO:0001439 episcleritis periodica fugax skos:exactMatch icd11.foundation:2091821028 Episcleritis periodica fugax semapv:UnspecifiedMatching MONDO:0001440 neurotrophic keratoconjunctivitis skos:exactMatch DOID:12125 neurotrophic keratoconjunctivitis semapv:UnspecifiedMatching MONDO:0001440 neurotrophic keratoconjunctivitis skos:exactMatch ICD10CM:H16.23 Neurotrophic keratoconjunctivitis semapv:UnspecifiedMatching MONDO:0001440 neurotrophic keratoconjunctivitis skos:exactMatch MEDGEN:509777 semapv:UnspecifiedMatching MONDO:0001440 neurotrophic keratoconjunctivitis skos:exactMatch SCTID:77080005 semapv:UnspecifiedMatching MONDO:0001440 neurotrophic keratoconjunctivitis skos:exactMatch UMLS:C0155084 semapv:UnspecifiedMatching MONDO:0001441 pica disease skos:exactMatch DOID:12128 pica disease semapv:UnspecifiedMatching MONDO:0001441 pica disease skos:exactMatch MEDGEN:45917 semapv:UnspecifiedMatching MONDO:0001441 pica disease skos:exactMatch NCIT:C92566 Pica Eating Disorder semapv:UnspecifiedMatching MONDO:0001441 pica disease skos:exactMatch SCTID:14077003 semapv:UnspecifiedMatching MONDO:0001441 pica disease skos:exactMatch UMLS:C0031873 semapv:UnspecifiedMatching MONDO:0001441 pica disease skos:exactMatch icd11.foundation:833390860 Pica semapv:UnspecifiedMatching MONDO:0001441 pica disease skos:exactMatch mesh:D010842 semapv:UnspecifiedMatching MONDO:0001442 dysthymic disorder skos:exactMatch DOID:12139 dysthymic disorder semapv:UnspecifiedMatching MONDO:0001442 dysthymic disorder skos:exactMatch EFO:0008623 semapv:UnspecifiedMatching MONDO:0001442 dysthymic disorder skos:exactMatch ICD10CM:F34.1 Dysthymic disorder semapv:UnspecifiedMatching MONDO:0001442 dysthymic disorder skos:exactMatch MEDGEN:8517 semapv:UnspecifiedMatching MONDO:0001442 dysthymic disorder skos:exactMatch NCIT:C34562 Dysthymic Disorder semapv:UnspecifiedMatching MONDO:0001442 dysthymic disorder skos:exactMatch SCTID:78667006 semapv:UnspecifiedMatching MONDO:0001442 dysthymic disorder skos:exactMatch UMLS:C0013415 semapv:UnspecifiedMatching MONDO:0001442 dysthymic disorder skos:exactMatch icd11.foundation:810797047 Dysthymic disorder semapv:UnspecifiedMatching MONDO:0001442 dysthymic disorder skos:exactMatch mesh:D019263 semapv:UnspecifiedMatching MONDO:0001443 tympanosclerosis skos:exactMatch DOID:1214 tympanosclerosis semapv:UnspecifiedMatching MONDO:0001443 tympanosclerosis skos:exactMatch ICD10CM:H74.0 Tympanosclerosis semapv:UnspecifiedMatching MONDO:0001443 tympanosclerosis skos:exactMatch MEDGEN:473094 semapv:UnspecifiedMatching MONDO:0001443 tympanosclerosis skos:exactMatch SCTID:23606001 semapv:UnspecifiedMatching MONDO:0001443 tympanosclerosis skos:exactMatch UMLS:C0395887 semapv:UnspecifiedMatching MONDO:0001443 tympanosclerosis skos:exactMatch icd11.foundation:28175464 Tympanosclerosis semapv:UnspecifiedMatching MONDO:0001443 tympanosclerosis skos:exactMatch mesh:D063371 semapv:UnspecifiedMatching MONDO:0001444 Chagas disease skos:exactMatch DOID:12140 Chagas disease semapv:UnspecifiedMatching MONDO:0001444 Chagas disease skos:exactMatch ICD10CM:B57 Chagas' disease semapv:UnspecifiedMatching MONDO:0001444 Chagas disease skos:exactMatch ICD10WHO:B57 Chagas disease semapv:UnspecifiedMatching MONDO:0001444 Chagas disease skos:exactMatch MEDGEN:11935 semapv:UnspecifiedMatching MONDO:0001444 Chagas disease skos:exactMatch NCIT:C84629 Chagas Disease semapv:UnspecifiedMatching MONDO:0001444 Chagas disease skos:exactMatch Orphanet:3386 American trypanosomiasis semapv:UnspecifiedMatching MONDO:0001444 Chagas disease skos:exactMatch SCTID:77506005 semapv:UnspecifiedMatching MONDO:0001444 Chagas disease skos:exactMatch UMLS:C0041234 semapv:UnspecifiedMatching MONDO:0001444 Chagas disease skos:exactMatch icd11.foundation:1365585570 Chagas disease semapv:UnspecifiedMatching MONDO:0001444 Chagas disease skos:exactMatch mesh:D014355 semapv:UnspecifiedMatching MONDO:0001445 obsolete neurogenic bladder skos:exactMatch DOID:12143 neurogenic bladder semapv:UnspecifiedMatching MONDO:0001445 obsolete neurogenic bladder skos:exactMatch SCTID:398064005 semapv:UnspecifiedMatching MONDO:0001445 obsolete neurogenic bladder skos:exactMatch mesh:D001750 semapv:UnspecifiedMatching MONDO:0001446 low compliance bladder skos:exactMatch DOID:12144 low compliance bladder semapv:UnspecifiedMatching MONDO:0001446 low compliance bladder skos:exactMatch MEDGEN:635444 semapv:UnspecifiedMatching MONDO:0001446 low compliance bladder skos:exactMatch SCTID:9009001 semapv:UnspecifiedMatching MONDO:0001446 low compliance bladder skos:exactMatch UMLS:C0489967 semapv:UnspecifiedMatching MONDO:0001447 detrusor sphincter dyssynergia skos:exactMatch DOID:12145 detrusor sphincter dyssynergia semapv:UnspecifiedMatching MONDO:0001447 detrusor sphincter dyssynergia skos:exactMatch MEDGEN:574618 semapv:UnspecifiedMatching MONDO:0001447 detrusor sphincter dyssynergia skos:exactMatch SCTID:236655005 semapv:UnspecifiedMatching MONDO:0001447 detrusor sphincter dyssynergia skos:exactMatch UMLS:C0341747 semapv:UnspecifiedMatching MONDO:0001449 lymphocytic choriomeningitis skos:exactMatch DOID:12155 lymphocytic choriomeningitis semapv:UnspecifiedMatching MONDO:0001449 lymphocytic choriomeningitis skos:exactMatch ICD10CM:A87.2 Lymphocytic choriomeningitis semapv:UnspecifiedMatching MONDO:0001449 lymphocytic choriomeningitis skos:exactMatch MEDGEN:44220 semapv:UnspecifiedMatching MONDO:0001449 lymphocytic choriomeningitis skos:exactMatch UMLS:C0024266 semapv:UnspecifiedMatching MONDO:0001449 lymphocytic choriomeningitis skos:exactMatch icd11.foundation:307264938 Lymphocytic choriomeningitis semapv:UnspecifiedMatching MONDO:0001449 lymphocytic choriomeningitis skos:exactMatch mesh:D008216 semapv:UnspecifiedMatching MONDO:0001451 peripheral retinal degeneration skos:exactMatch DOID:12161 peripheral retinal degeneration semapv:UnspecifiedMatching MONDO:0001451 peripheral retinal degeneration skos:exactMatch ICD10CM:H35.4 Peripheral retinal degeneration semapv:UnspecifiedMatching MONDO:0001451 peripheral retinal degeneration skos:exactMatch MEDGEN:232938 semapv:UnspecifiedMatching MONDO:0001451 peripheral retinal degeneration skos:exactMatch NCIT:C34919 Peripheral Retinal Degeneration semapv:UnspecifiedMatching MONDO:0001451 peripheral retinal degeneration skos:exactMatch SCTID:405721006 semapv:UnspecifiedMatching MONDO:0001451 peripheral retinal degeneration skos:exactMatch UMLS:C1320640 semapv:UnspecifiedMatching MONDO:0001451 peripheral retinal degeneration skos:exactMatch icd11.foundation:1518234440 Peripheral retinal degeneration semapv:UnspecifiedMatching MONDO:0001452 pseudoretinitis pigmentosa skos:exactMatch DOID:12162 pseudoretinitis pigmentosa semapv:UnspecifiedMatching MONDO:0001452 pseudoretinitis pigmentosa skos:exactMatch MEDGEN:781175 semapv:UnspecifiedMatching MONDO:0001452 pseudoretinitis pigmentosa skos:exactMatch SCTID:193396007 semapv:UnspecifiedMatching MONDO:0001452 pseudoretinitis pigmentosa skos:exactMatch UMLS:C2053820 semapv:UnspecifiedMatching MONDO:0001453 senile reticular retinal degeneration skos:exactMatch DOID:12163 senile reticular retinal degeneration semapv:UnspecifiedMatching MONDO:0001453 senile reticular retinal degeneration skos:exactMatch MEDGEN:509687 semapv:UnspecifiedMatching MONDO:0001453 senile reticular retinal degeneration skos:exactMatch SCTID:54184008 semapv:UnspecifiedMatching MONDO:0001453 senile reticular retinal degeneration skos:exactMatch UMLS:C0154857 semapv:UnspecifiedMatching MONDO:0001453 senile reticular retinal degeneration skos:exactMatch icd11.foundation:1499569117 Senile reticular degeneration of retina semapv:UnspecifiedMatching MONDO:0001454 Blessig's cysts skos:exactMatch DOID:12164 Blessig's cysts semapv:UnspecifiedMatching MONDO:0001454 Blessig's cysts skos:exactMatch ICD10CM:H35.42 Microcystoid degeneration of retina semapv:UnspecifiedMatching MONDO:0001454 Blessig's cysts skos:exactMatch MEDGEN:509686 semapv:UnspecifiedMatching MONDO:0001454 Blessig's cysts skos:exactMatch SCTID:37075008 semapv:UnspecifiedMatching MONDO:0001454 Blessig's cysts skos:exactMatch UMLS:C0154855 semapv:UnspecifiedMatching MONDO:0001454 Blessig's cysts skos:exactMatch icd11.foundation:332813459 Microcystoid degeneration of retina semapv:UnspecifiedMatching MONDO:0001455 retinal lattice degeneration skos:exactMatch DOID:12165 retinal lattice degeneration semapv:UnspecifiedMatching MONDO:0001455 retinal lattice degeneration skos:exactMatch ICD10CM:H35.41 Lattice degeneration of retina semapv:UnspecifiedMatching MONDO:0001455 retinal lattice degeneration skos:exactMatch MEDGEN:102321 semapv:UnspecifiedMatching MONDO:0001455 retinal lattice degeneration skos:exactMatch SCTID:3577000 semapv:UnspecifiedMatching MONDO:0001455 retinal lattice degeneration skos:exactMatch UMLS:C0154856 semapv:UnspecifiedMatching MONDO:0001455 retinal lattice degeneration skos:exactMatch icd11.foundation:1736115308 Lattice degeneration of retina semapv:UnspecifiedMatching MONDO:0001456 cobblestone retinal degeneration skos:exactMatch DOID:12166 cobblestone retinal degeneration semapv:UnspecifiedMatching MONDO:0001456 cobblestone retinal degeneration skos:exactMatch ICD10CM:H35.43 Paving stone degeneration of retina semapv:UnspecifiedMatching MONDO:0001456 cobblestone retinal degeneration skos:exactMatch MEDGEN:509685 semapv:UnspecifiedMatching MONDO:0001456 cobblestone retinal degeneration skos:exactMatch SCTID:69134001 semapv:UnspecifiedMatching MONDO:0001456 cobblestone retinal degeneration skos:exactMatch UMLS:C0154854 semapv:UnspecifiedMatching MONDO:0001456 cobblestone retinal degeneration skos:exactMatch icd11.foundation:1990039815 Paving stone degeneration of retina semapv:UnspecifiedMatching MONDO:0001457 secondary vitreoretinal degeneration skos:exactMatch DOID:12167 secondary vitreoretinal degeneration semapv:UnspecifiedMatching MONDO:0001457 secondary vitreoretinal degeneration skos:exactMatch ICD10CM:H35.46 Secondary vitreoretinal degeneration semapv:UnspecifiedMatching MONDO:0001457 secondary vitreoretinal degeneration skos:exactMatch MEDGEN:509689 semapv:UnspecifiedMatching MONDO:0001457 secondary vitreoretinal degeneration skos:exactMatch SCTID:60676002 semapv:UnspecifiedMatching MONDO:0001457 secondary vitreoretinal degeneration skos:exactMatch UMLS:C0154859 semapv:UnspecifiedMatching MONDO:0001457 secondary vitreoretinal degeneration skos:exactMatch icd11.foundation:345348088 Secondary vitreoretinal degeneration semapv:UnspecifiedMatching MONDO:0001458 ulnar nerve lesion skos:exactMatch DOID:12168 ulnar nerve lesion semapv:UnspecifiedMatching MONDO:0001458 ulnar nerve lesion skos:exactMatch ICD10CM:G56.2 Lesion of ulnar nerve semapv:UnspecifiedMatching MONDO:0001458 ulnar nerve lesion skos:exactMatch MEDGEN:710723 semapv:UnspecifiedMatching MONDO:0001458 ulnar nerve lesion skos:exactMatch SCTID:367475009 semapv:UnspecifiedMatching MONDO:0001458 ulnar nerve lesion skos:exactMatch UMLS:C1288279 semapv:UnspecifiedMatching MONDO:0001458 ulnar nerve lesion skos:exactMatch icd11.foundation:1575441355 Lesion of ulnar nerve semapv:UnspecifiedMatching MONDO:0001459 radial neuropathy skos:exactMatch DOID:12171 radial neuropathy semapv:UnspecifiedMatching MONDO:0001459 radial neuropathy skos:exactMatch MEDGEN:148185 semapv:UnspecifiedMatching MONDO:0001459 radial neuropathy skos:exactMatch SCTID:16644004 semapv:UnspecifiedMatching MONDO:0001459 radial neuropathy skos:exactMatch UMLS:C0748226 semapv:UnspecifiedMatching MONDO:0001459 radial neuropathy skos:exactMatch mesh:D020425 semapv:UnspecifiedMatching MONDO:0001460 dyshormonogenic goiter skos:exactMatch DOID:12175 dyshormonogenic goiter semapv:UnspecifiedMatching MONDO:0001460 dyshormonogenic goiter skos:exactMatch MEDGEN:508873 semapv:UnspecifiedMatching MONDO:0001460 dyshormonogenic goiter skos:exactMatch SCTID:190304001 semapv:UnspecifiedMatching MONDO:0001460 dyshormonogenic goiter skos:exactMatch UMLS:C0152077 semapv:UnspecifiedMatching MONDO:0001461 tinea corporis skos:exactMatch DOID:12179 tinea corporis semapv:UnspecifiedMatching MONDO:0001461 tinea corporis skos:exactMatch ICD10CM:B35.4 Tinea corporis semapv:UnspecifiedMatching MONDO:0001461 tinea corporis skos:exactMatch MEDGEN:508197 semapv:UnspecifiedMatching MONDO:0001461 tinea corporis skos:exactMatch SCTID:84849002 semapv:UnspecifiedMatching MONDO:0001461 tinea corporis skos:exactMatch UMLS:C0040252 semapv:UnspecifiedMatching MONDO:0001461 tinea corporis skos:exactMatch icd11.foundation:87792802 Dermatophytosis of trunk or limbs semapv:UnspecifiedMatching MONDO:0001462 descending colon cancer skos:exactMatch DOID:12190 descending colon cancer semapv:UnspecifiedMatching MONDO:0001462 descending colon cancer skos:exactMatch ICD10CM:C18.6 Malignant neoplasm of descending colon semapv:UnspecifiedMatching MONDO:0001462 descending colon cancer skos:exactMatch MEDGEN:509291 semapv:UnspecifiedMatching MONDO:0001462 descending colon cancer skos:exactMatch SCTID:363409003 semapv:UnspecifiedMatching MONDO:0001462 descending colon cancer skos:exactMatch UMLS:C0153435 semapv:UnspecifiedMatching MONDO:0001463 splenic flexure cancer skos:exactMatch DOID:12191 splenic flexure cancer semapv:UnspecifiedMatching MONDO:0001463 splenic flexure cancer skos:exactMatch ICD10CM:C18.5 Malignant neoplasm of splenic flexure semapv:UnspecifiedMatching MONDO:0001463 splenic flexure cancer skos:exactMatch MEDGEN:509294 semapv:UnspecifiedMatching MONDO:0001463 splenic flexure cancer skos:exactMatch SCTID:363413005 semapv:UnspecifiedMatching MONDO:0001463 splenic flexure cancer skos:exactMatch UMLS:C0153440 semapv:UnspecifiedMatching MONDO:0001464 sigmoid colon cancer skos:exactMatch DOID:12192 sigmoid colon cancer semapv:UnspecifiedMatching MONDO:0001464 sigmoid colon cancer skos:exactMatch ICD10CM:C18.7 Malignant neoplasm of sigmoid colon semapv:UnspecifiedMatching MONDO:0001464 sigmoid colon cancer skos:exactMatch MEDGEN:509292 semapv:UnspecifiedMatching MONDO:0001464 sigmoid colon cancer skos:exactMatch SCTID:363410008 semapv:UnspecifiedMatching MONDO:0001464 sigmoid colon cancer skos:exactMatch UMLS:C0153436 semapv:UnspecifiedMatching MONDO:0001464 sigmoid colon cancer skos:exactMatch icd11.foundation:1717786596 Malignant neoplasm of sigmoid colon semapv:UnspecifiedMatching MONDO:0001465 superficial keratitis skos:exactMatch DOID:12196 superficial keratitis semapv:UnspecifiedMatching MONDO:0001465 superficial keratitis skos:exactMatch MEDGEN:509771 semapv:UnspecifiedMatching MONDO:0001465 superficial keratitis skos:exactMatch SCTID:27019000 semapv:UnspecifiedMatching MONDO:0001465 superficial keratitis skos:exactMatch UMLS:C0155074 semapv:UnspecifiedMatching MONDO:0001466 punctate epithelial keratoconjunctivitis skos:exactMatch DOID:12197 punctate epithelial keratoconjunctivitis semapv:UnspecifiedMatching MONDO:0001466 punctate epithelial keratoconjunctivitis skos:exactMatch MEDGEN:736733 semapv:UnspecifiedMatching MONDO:0001466 punctate epithelial keratoconjunctivitis skos:exactMatch SCTID:416069001 semapv:UnspecifiedMatching MONDO:0001466 punctate epithelial keratoconjunctivitis skos:exactMatch UMLS:C1562761 semapv:UnspecifiedMatching MONDO:0001467 obsolete specific bursitis often of occupational origin skos:exactMatch DOID:12223 obsolete specific bursitis often of occupational origin semapv:UnspecifiedMatching MONDO:0001467 obsolete specific bursitis often of occupational origin skos:exactMatch SCTID:42812006 semapv:UnspecifiedMatching MONDO:0001468 synovial plica syndrome skos:exactMatch DOID:12225 Plica syndrome semapv:UnspecifiedMatching MONDO:0001468 synovial plica syndrome skos:exactMatch ICD10CM:M67.5 Plica syndrome semapv:UnspecifiedMatching MONDO:0001468 synovial plica syndrome skos:exactMatch MEDGEN:640475 semapv:UnspecifiedMatching MONDO:0001468 synovial plica syndrome skos:exactMatch SCTID:240171001 semapv:UnspecifiedMatching MONDO:0001468 synovial plica syndrome skos:exactMatch UMLS:C0554601 semapv:UnspecifiedMatching MONDO:0001469 cascade stomach skos:exactMatch DOID:12234 cascade stomach semapv:UnspecifiedMatching MONDO:0001469 cascade stomach skos:exactMatch MEDGEN:540460 semapv:UnspecifiedMatching MONDO:0001469 cascade stomach skos:exactMatch SCTID:54051005 semapv:UnspecifiedMatching MONDO:0001469 cascade stomach skos:exactMatch UMLS:C0267183 semapv:UnspecifiedMatching MONDO:0001470 anal margin squamous cell carcinoma skos:exactMatch DOID:12239 anal margin squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0001470 anal margin squamous cell carcinoma skos:exactMatch ICD10CM:C44.520 Squamous cell carcinoma of anal skin semapv:UnspecifiedMatching MONDO:0001470 anal margin squamous cell carcinoma skos:exactMatch MEDGEN:278071 semapv:UnspecifiedMatching MONDO:0001470 anal margin squamous cell carcinoma skos:exactMatch NCIT:C6925 Anal Margin Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0001470 anal margin squamous cell carcinoma skos:exactMatch SCTID:255084004 semapv:UnspecifiedMatching MONDO:0001470 anal margin squamous cell carcinoma skos:exactMatch UMLS:C1412037 semapv:UnspecifiedMatching MONDO:0001471 histoplasmosis meningitis skos:exactMatch DOID:12246 histoplasmosis meningitis semapv:UnspecifiedMatching MONDO:0001471 histoplasmosis meningitis skos:exactMatch MEDGEN:509239 semapv:UnspecifiedMatching MONDO:0001471 histoplasmosis meningitis skos:exactMatch UMLS:C0153277 semapv:UnspecifiedMatching MONDO:0001472 testicular lymphoma skos:exactMatch DOID:12253 testicular lymphoma semapv:UnspecifiedMatching MONDO:0001472 testicular lymphoma skos:exactMatch MEDGEN:138110 semapv:UnspecifiedMatching MONDO:0001472 testicular lymphoma skos:exactMatch NCIT:C6810 Testicular Lymphoma semapv:UnspecifiedMatching MONDO:0001472 testicular lymphoma skos:exactMatch SCTID:277664004 semapv:UnspecifiedMatching MONDO:0001472 testicular lymphoma skos:exactMatch UMLS:C0349644 semapv:UnspecifiedMatching MONDO:0001473 medulloadrenal hyperfunction skos:exactMatch DOID:12257 medulloadrenal hyperfunction semapv:UnspecifiedMatching MONDO:0001473 medulloadrenal hyperfunction skos:exactMatch MEDGEN:509543 semapv:UnspecifiedMatching MONDO:0001473 medulloadrenal hyperfunction skos:exactMatch SCTID:111565003 semapv:UnspecifiedMatching MONDO:0001473 medulloadrenal hyperfunction skos:exactMatch UMLS:C0154206 semapv:UnspecifiedMatching MONDO:0001474 chronic salpingo-oophoritis skos:exactMatch DOID:12265 chronic salpingo-oophoritis semapv:UnspecifiedMatching MONDO:0001474 chronic salpingo-oophoritis skos:exactMatch MEDGEN:510244 semapv:UnspecifiedMatching MONDO:0001474 chronic salpingo-oophoritis skos:exactMatch SCTID:198142001 semapv:UnspecifiedMatching MONDO:0001474 chronic salpingo-oophoritis skos:exactMatch UMLS:C0156328 semapv:UnspecifiedMatching MONDO:0001475 neutropenia skos:exactMatch DOID:1227 neutropenia semapv:UnspecifiedMatching MONDO:0001475 neutropenia skos:exactMatch MEDGEN:163121 semapv:UnspecifiedMatching MONDO:0001475 neutropenia skos:exactMatch SCTID:303011007 semapv:UnspecifiedMatching MONDO:0001475 neutropenia skos:exactMatch UMLS:C0853697 semapv:UnspecifiedMatching MONDO:0001475 neutropenia skos:exactMatch icd11.foundation:926492960 Neutropenia semapv:UnspecifiedMatching MONDO:0001475 neutropenia skos:exactMatch mesh:D009503 semapv:UnspecifiedMatching MONDO:0001476 coloboma skos:exactMatch DOID:12270 coloboma semapv:UnspecifiedMatching MONDO:0001476 coloboma skos:exactMatch MEDGEN:1046 semapv:UnspecifiedMatching MONDO:0001476 coloboma skos:exactMatch NCIT:C98877 Coloboma of the Eye semapv:UnspecifiedMatching MONDO:0001476 coloboma skos:exactMatch SCTID:93390002 semapv:UnspecifiedMatching MONDO:0001476 coloboma skos:exactMatch UMLS:C0009363 semapv:UnspecifiedMatching MONDO:0001476 coloboma skos:exactMatch mesh:D003103 semapv:UnspecifiedMatching MONDO:0001478 anisometropia skos:exactMatch DOID:12273 anisometropia semapv:UnspecifiedMatching MONDO:0001478 anisometropia skos:exactMatch ICD10CM:H52.31 Anisometropia semapv:UnspecifiedMatching MONDO:0001478 anisometropia skos:exactMatch MEDGEN:8099 semapv:UnspecifiedMatching MONDO:0001478 anisometropia skos:exactMatch SCTID:3289004 semapv:UnspecifiedMatching MONDO:0001478 anisometropia skos:exactMatch UMLS:C0003081 semapv:UnspecifiedMatching MONDO:0001478 anisometropia skos:exactMatch icd11.foundation:386251928 Anisometropia semapv:UnspecifiedMatching MONDO:0001478 anisometropia skos:exactMatch mesh:D015858 semapv:UnspecifiedMatching MONDO:0001479 cutaneous diphtheria skos:exactMatch DOID:12275 cutaneous diphtheria semapv:UnspecifiedMatching MONDO:0001479 cutaneous diphtheria skos:exactMatch ICD10CM:A36.3 Cutaneous diphtheria semapv:UnspecifiedMatching MONDO:0001479 cutaneous diphtheria skos:exactMatch MEDGEN:41599 semapv:UnspecifiedMatching MONDO:0001479 cutaneous diphtheria skos:exactMatch NCIT:C34544 Cutaneous Diphtheria semapv:UnspecifiedMatching MONDO:0001479 cutaneous diphtheria skos:exactMatch SCTID:18901009 semapv:UnspecifiedMatching MONDO:0001479 cutaneous diphtheria skos:exactMatch UMLS:C0012555 semapv:UnspecifiedMatching MONDO:0001479 cutaneous diphtheria skos:exactMatch icd11.foundation:618920860 Cutaneous diphtheria semapv:UnspecifiedMatching MONDO:0001480 malignant tumor of undescended testis skos:exactMatch DOID:12276 malignant tumor of undescended testis semapv:UnspecifiedMatching MONDO:0001480 malignant tumor of undescended testis skos:exactMatch ICD10CM:C62.0 Malignant neoplasm of undescended testis semapv:UnspecifiedMatching MONDO:0001480 malignant tumor of undescended testis skos:exactMatch MEDGEN:509335 semapv:UnspecifiedMatching MONDO:0001480 malignant tumor of undescended testis skos:exactMatch SCTID:188219004 semapv:UnspecifiedMatching MONDO:0001480 malignant tumor of undescended testis skos:exactMatch UMLS:C0153595 semapv:UnspecifiedMatching MONDO:0001480 malignant tumor of undescended testis skos:exactMatch icd11.foundation:222947236 Malignant neoplasm of undescended testis semapv:UnspecifiedMatching MONDO:0001481 femoral vein thrombophlebitis skos:exactMatch DOID:12282 femoral vein thrombophlebitis semapv:UnspecifiedMatching MONDO:0001481 femoral vein thrombophlebitis skos:exactMatch ICD10CM:I80.1 Phlebitis and thrombophlebitis of femoral vein semapv:UnspecifiedMatching MONDO:0001481 femoral vein thrombophlebitis skos:exactMatch MEDGEN:539052 semapv:UnspecifiedMatching MONDO:0001481 femoral vein thrombophlebitis skos:exactMatch SCTID:1748006 semapv:UnspecifiedMatching MONDO:0001481 femoral vein thrombophlebitis skos:exactMatch UMLS:C0265066 semapv:UnspecifiedMatching MONDO:0001482 testicular leukemia skos:exactMatch DOID:12286 testicular leukemia semapv:UnspecifiedMatching MONDO:0001482 testicular leukemia skos:exactMatch MEDGEN:234941 semapv:UnspecifiedMatching MONDO:0001482 testicular leukemia skos:exactMatch NCIT:C9277 Testicular Leukemia semapv:UnspecifiedMatching MONDO:0001482 testicular leukemia skos:exactMatch UMLS:C1336711 semapv:UnspecifiedMatching MONDO:0001484 paranoid schizophrenia skos:exactMatch DOID:1229 paranoid schizophrenia semapv:UnspecifiedMatching MONDO:0001484 paranoid schizophrenia skos:exactMatch ICD10CM:F20.0 Paranoid schizophrenia semapv:UnspecifiedMatching MONDO:0001484 paranoid schizophrenia skos:exactMatch MEDGEN:20664 semapv:UnspecifiedMatching MONDO:0001484 paranoid schizophrenia skos:exactMatch NCIT:C35006 Paranoid Type Schizophrenia semapv:UnspecifiedMatching MONDO:0001484 paranoid schizophrenia skos:exactMatch SCTID:31658008 semapv:UnspecifiedMatching MONDO:0001484 paranoid schizophrenia skos:exactMatch UMLS:C0036349 semapv:UnspecifiedMatching MONDO:0001484 paranoid schizophrenia skos:exactMatch mesh:D012563 semapv:UnspecifiedMatching MONDO:0001485 atypical depressive disorder skos:exactMatch DOID:12294 atypical depressive disorder semapv:UnspecifiedMatching MONDO:0001485 atypical depressive disorder skos:exactMatch MEDGEN:509593 semapv:UnspecifiedMatching MONDO:0001485 atypical depressive disorder skos:exactMatch SCTID:191659001 semapv:UnspecifiedMatching MONDO:0001485 atypical depressive disorder skos:exactMatch UMLS:C0154437 semapv:UnspecifiedMatching MONDO:0001487 intrahepatic bile duct cancer skos:exactMatch DOID:12298 intrahepatic gall duct cancer semapv:UnspecifiedMatching MONDO:0001487 intrahepatic bile duct cancer skos:exactMatch MEDGEN:639748 semapv:UnspecifiedMatching MONDO:0001487 intrahepatic bile duct cancer skos:exactMatch SCTID:187777008 semapv:UnspecifiedMatching MONDO:0001487 intrahepatic bile duct cancer skos:exactMatch UMLS:C0546835 semapv:UnspecifiedMatching MONDO:0001487 intrahepatic bile duct cancer skos:exactMatch icd11.foundation:1938186540 Malignant neoplasm of intrahepatic bile ducts semapv:UnspecifiedMatching MONDO:0001488 anterior corneal pigmentation skos:exactMatch DOID:12307 anterior corneal pigmentation semapv:UnspecifiedMatching MONDO:0001488 anterior corneal pigmentation skos:exactMatch ICD10CM:H18.01 Anterior corneal pigmentations semapv:UnspecifiedMatching MONDO:0001488 anterior corneal pigmentation skos:exactMatch MEDGEN:509790 semapv:UnspecifiedMatching MONDO:0001488 anterior corneal pigmentation skos:exactMatch SCTID:18377001 semapv:UnspecifiedMatching MONDO:0001488 anterior corneal pigmentation skos:exactMatch UMLS:C0155104 semapv:UnspecifiedMatching MONDO:0001488 anterior corneal pigmentation skos:exactMatch icd11.foundation:70755968 Anterior corneal pigmentations semapv:UnspecifiedMatching MONDO:0001490 corneal granular dystrophy skos:exactMatch DOID:12318 granular corneal dystrophy semapv:UnspecifiedMatching MONDO:0001490 corneal granular dystrophy skos:exactMatch ICD10CM:H18.53 Granular corneal dystrophy semapv:UnspecifiedMatching MONDO:0001490 corneal granular dystrophy skos:exactMatch MEDGEN:42290 semapv:UnspecifiedMatching MONDO:0001490 corneal granular dystrophy skos:exactMatch NCIT:C34651 Granular Corneal Dystrophy semapv:UnspecifiedMatching MONDO:0001490 corneal granular dystrophy skos:exactMatch SCTID:45283008 semapv:UnspecifiedMatching MONDO:0001490 corneal granular dystrophy skos:exactMatch UMLS:C0018179 semapv:UnspecifiedMatching MONDO:0001490 corneal granular dystrophy skos:exactMatch icd11.foundation:965716695 Granular corneal dystrophy semapv:UnspecifiedMatching MONDO:0001491 cough variant asthma skos:exactMatch DOID:12323 cough variant asthma semapv:UnspecifiedMatching MONDO:0001491 cough variant asthma skos:exactMatch ICD10CM:J45.991 Cough variant asthma semapv:UnspecifiedMatching MONDO:0001491 cough variant asthma skos:exactMatch MEDGEN:675053 semapv:UnspecifiedMatching MONDO:0001491 cough variant asthma skos:exactMatch SCTID:409663006 semapv:UnspecifiedMatching MONDO:0001491 cough variant asthma skos:exactMatch UMLS:C0694548 semapv:UnspecifiedMatching MONDO:0001491 cough variant asthma skos:exactMatch icd11.foundation:1466639844 Cough variant asthma semapv:UnspecifiedMatching MONDO:0001492 kyphoscoliotic heart disease skos:exactMatch DOID:12325 kyphoscoliotic heart disease semapv:UnspecifiedMatching MONDO:0001492 kyphoscoliotic heart disease skos:exactMatch ICD10CM:I27.1 Kyphoscoliotic heart disease semapv:UnspecifiedMatching MONDO:0001492 kyphoscoliotic heart disease skos:exactMatch MEDGEN:508888 semapv:UnspecifiedMatching MONDO:0001492 kyphoscoliotic heart disease skos:exactMatch SCTID:45650007 semapv:UnspecifiedMatching MONDO:0001492 kyphoscoliotic heart disease skos:exactMatch UMLS:C0152102 semapv:UnspecifiedMatching MONDO:0001492 kyphoscoliotic heart disease skos:exactMatch icd11.foundation:1361660141 Kyphoscoliotic heart disease semapv:UnspecifiedMatching MONDO:0001493 chronic pulmonary heart disease skos:exactMatch DOID:12326 chronic pulmonary heart disease semapv:UnspecifiedMatching MONDO:0001493 chronic pulmonary heart disease skos:exactMatch MEDGEN:116042 semapv:UnspecifiedMatching MONDO:0001493 chronic pulmonary heart disease skos:exactMatch NCIT:C34478 Cor Pulmonale semapv:UnspecifiedMatching MONDO:0001493 chronic pulmonary heart disease skos:exactMatch SCTID:87837008 semapv:UnspecifiedMatching MONDO:0001493 chronic pulmonary heart disease skos:exactMatch UMLS:C0238074 semapv:UnspecifiedMatching MONDO:0001494 obsolete transvestism skos:exactMatch DOID:1233 transvestism semapv:UnspecifiedMatching MONDO:0001494 obsolete transvestism skos:exactMatch NCIT:C94359 Transvestic Fetishism semapv:UnspecifiedMatching MONDO:0001494 obsolete transvestism skos:exactMatch SCTID:472981000 semapv:UnspecifiedMatching MONDO:0001494 obsolete transvestism skos:exactMatch mesh:D014190 semapv:UnspecifiedMatching MONDO:0001495 hematocele of tunica vaginalis testis skos:exactMatch DOID:12332 hematocele of tunica vaginalis testis semapv:UnspecifiedMatching MONDO:0001495 hematocele of tunica vaginalis testis skos:exactMatch MEDGEN:42386 semapv:UnspecifiedMatching MONDO:0001495 hematocele of tunica vaginalis testis skos:exactMatch SCTID:66259004 semapv:UnspecifiedMatching MONDO:0001495 hematocele of tunica vaginalis testis skos:exactMatch UMLS:C0018931 semapv:UnspecifiedMatching MONDO:0001495 hematocele of tunica vaginalis testis skos:exactMatch mesh:D006398 semapv:UnspecifiedMatching MONDO:0001496 male genital organ stricture skos:exactMatch DOID:12333 male genital organ stricture semapv:UnspecifiedMatching MONDO:0001496 male genital organ stricture skos:exactMatch MEDGEN:510240 semapv:UnspecifiedMatching MONDO:0001496 male genital organ stricture skos:exactMatch SCTID:198064007 semapv:UnspecifiedMatching MONDO:0001496 male genital organ stricture skos:exactMatch UMLS:C0156316 semapv:UnspecifiedMatching MONDO:0001497 male genital organ vascular disease skos:exactMatch DOID:12335 male genital organ vascular disease semapv:UnspecifiedMatching MONDO:0001497 male genital organ vascular disease skos:exactMatch MEDGEN:508280 semapv:UnspecifiedMatching MONDO:0001497 male genital organ vascular disease skos:exactMatch SCTID:198057005 semapv:UnspecifiedMatching MONDO:0001497 male genital organ vascular disease skos:exactMatch UMLS:C0042374 semapv:UnspecifiedMatching MONDO:0001498 varicocele skos:exactMatch DOID:12337 varicocele semapv:UnspecifiedMatching MONDO:0001498 varicocele skos:exactMatch ICD10CM:I86.1 Scrotal varices semapv:UnspecifiedMatching MONDO:0001498 varicocele skos:exactMatch MEDGEN:22619 semapv:UnspecifiedMatching MONDO:0001498 varicocele skos:exactMatch SCTID:46871008 semapv:UnspecifiedMatching MONDO:0001498 varicocele skos:exactMatch UMLS:C0042341 semapv:UnspecifiedMatching MONDO:0001498 varicocele skos:exactMatch icd11.foundation:315302008 Scrotal varices semapv:UnspecifiedMatching MONDO:0001498 varicocele skos:exactMatch mesh:D014646 semapv:UnspecifiedMatching MONDO:0001499 retroperitoneal lymphoma skos:exactMatch DOID:12339 retroperitoneal lymphoma semapv:UnspecifiedMatching MONDO:0001499 retroperitoneal lymphoma skos:exactMatch MEDGEN:233407 semapv:UnspecifiedMatching MONDO:0001499 retroperitoneal lymphoma skos:exactMatch NCIT:C7353 Retroperitoneal Lymphoma semapv:UnspecifiedMatching MONDO:0001499 retroperitoneal lymphoma skos:exactMatch SCTID:422853008 semapv:UnspecifiedMatching MONDO:0001499 retroperitoneal lymphoma skos:exactMatch UMLS:C1335779 semapv:UnspecifiedMatching MONDO:0001500 obsolete gender identity disorder skos:exactMatch DOID:1234 gender incongruence semapv:UnspecifiedMatching MONDO:0001500 obsolete gender identity disorder skos:exactMatch EFO:0008587 semapv:UnspecifiedMatching MONDO:0001500 obsolete gender identity disorder skos:exactMatch NCIT:C94362 Gender Identity Disorder semapv:UnspecifiedMatching MONDO:0001500 obsolete gender identity disorder skos:exactMatch SCTID:87991007 semapv:UnspecifiedMatching MONDO:0001501 retroperitoneal sarcoma skos:exactMatch DOID:12341 retroperitoneal sarcoma semapv:UnspecifiedMatching MONDO:0001501 retroperitoneal sarcoma skos:exactMatch MEDGEN:107937 semapv:UnspecifiedMatching MONDO:0001501 retroperitoneal sarcoma skos:exactMatch NCIT:C4832 Retroperitoneal Sarcoma semapv:UnspecifiedMatching MONDO:0001501 retroperitoneal sarcoma skos:exactMatch SCTID:307219002 semapv:UnspecifiedMatching MONDO:0001501 retroperitoneal sarcoma skos:exactMatch UMLS:C0585129 semapv:UnspecifiedMatching MONDO:0001502 retroperitoneum carcinoma skos:exactMatch DOID:12342 retroperitoneum carcinoma semapv:UnspecifiedMatching MONDO:0001502 retroperitoneum carcinoma skos:exactMatch MEDGEN:215301 semapv:UnspecifiedMatching MONDO:0001502 retroperitoneum carcinoma skos:exactMatch NCIT:C7352 Retroperitoneal Carcinoma semapv:UnspecifiedMatching MONDO:0001502 retroperitoneum carcinoma skos:exactMatch UMLS:C0948749 semapv:UnspecifiedMatching MONDO:0001503 primary eye hypotony skos:exactMatch DOID:12349 primary eye hypotony semapv:UnspecifiedMatching MONDO:0001503 primary eye hypotony skos:exactMatch ICD10CM:H44.44 Primary hypotony of eye semapv:UnspecifiedMatching MONDO:0001503 primary eye hypotony skos:exactMatch MEDGEN:509656 semapv:UnspecifiedMatching MONDO:0001503 primary eye hypotony skos:exactMatch SCTID:2251002 semapv:UnspecifiedMatching MONDO:0001503 primary eye hypotony skos:exactMatch UMLS:C0154782 semapv:UnspecifiedMatching MONDO:0001504 fetishistic disorder skos:exactMatch DOID:1235 fetishism semapv:UnspecifiedMatching MONDO:0001504 fetishistic disorder skos:exactMatch ICD10CM:F65.0 Fetishism semapv:UnspecifiedMatching MONDO:0001504 fetishistic disorder skos:exactMatch MEDGEN:8827 semapv:UnspecifiedMatching MONDO:0001504 fetishistic disorder skos:exactMatch NCIT:C94353 Fetishism semapv:UnspecifiedMatching MONDO:0001504 fetishistic disorder skos:exactMatch SCTID:59174009 semapv:UnspecifiedMatching MONDO:0001504 fetishistic disorder skos:exactMatch UMLS:C0015957 semapv:UnspecifiedMatching MONDO:0001504 fetishistic disorder skos:exactMatch mesh:D005329 semapv:UnspecifiedMatching MONDO:0001505 alcoholic hepatitis skos:exactMatch DOID:12351 alcoholic hepatitis semapv:UnspecifiedMatching MONDO:0001505 alcoholic hepatitis skos:exactMatch EFO:1001345 semapv:UnspecifiedMatching MONDO:0001505 alcoholic hepatitis skos:exactMatch ICD10CM:K70.1 Alcoholic hepatitis semapv:UnspecifiedMatching MONDO:0001505 alcoholic hepatitis skos:exactMatch MEDGEN:42422 semapv:UnspecifiedMatching MONDO:0001505 alcoholic hepatitis skos:exactMatch NCIT:C34684 Alcoholic Hepatitis semapv:UnspecifiedMatching MONDO:0001505 alcoholic hepatitis skos:exactMatch SCTID:235875008 semapv:UnspecifiedMatching MONDO:0001505 alcoholic hepatitis skos:exactMatch UMLS:C0019187 semapv:UnspecifiedMatching MONDO:0001505 alcoholic hepatitis skos:exactMatch icd11.foundation:229221394 Alcoholic hepatitis semapv:UnspecifiedMatching MONDO:0001505 alcoholic hepatitis skos:exactMatch mesh:D006519 semapv:UnspecifiedMatching MONDO:0001506 prostatocystitis skos:exactMatch DOID:12355 prostatocystitis semapv:UnspecifiedMatching MONDO:0001506 prostatocystitis skos:exactMatch ICD10CM:N41.3 Prostatocystitis semapv:UnspecifiedMatching MONDO:0001506 prostatocystitis skos:exactMatch MEDGEN:510230 semapv:UnspecifiedMatching MONDO:0001506 prostatocystitis skos:exactMatch SCTID:67685000 semapv:UnspecifiedMatching MONDO:0001506 prostatocystitis skos:exactMatch UMLS:C0156291 semapv:UnspecifiedMatching MONDO:0001506 prostatocystitis skos:exactMatch icd11.foundation:523988824 Prostatocystitis semapv:UnspecifiedMatching MONDO:0001507 viral labyrinthitis skos:exactMatch DOID:12357 viral labyrinthitis semapv:UnspecifiedMatching MONDO:0001507 viral labyrinthitis skos:exactMatch ICD10CM:A88.1 Epidemic vertigo semapv:UnspecifiedMatching MONDO:0001507 viral labyrinthitis skos:exactMatch MEDGEN:509997 semapv:UnspecifiedMatching MONDO:0001507 viral labyrinthitis skos:exactMatch SCTID:409711008 semapv:UnspecifiedMatching MONDO:0001507 viral labyrinthitis skos:exactMatch UMLS:C0155508 semapv:UnspecifiedMatching MONDO:0001508 patulous eustachian tube skos:exactMatch DOID:12358 patulous eustachian tube semapv:UnspecifiedMatching MONDO:0001508 patulous eustachian tube skos:exactMatch ICD10CM:H69.0 Patulous Eustachian tube semapv:UnspecifiedMatching MONDO:0001508 patulous eustachian tube skos:exactMatch MEDGEN:509965 semapv:UnspecifiedMatching MONDO:0001508 patulous eustachian tube skos:exactMatch SCTID:30280005 semapv:UnspecifiedMatching MONDO:0001508 patulous eustachian tube skos:exactMatch UMLS:C0155434 semapv:UnspecifiedMatching MONDO:0001508 patulous eustachian tube skos:exactMatch icd11.foundation:1112306780 Patulous Eustachian tube semapv:UnspecifiedMatching MONDO:0001509 endocrine exophthalmos skos:exactMatch DOID:12359 endocrine exophthalmos semapv:UnspecifiedMatching MONDO:0001509 endocrine exophthalmos skos:exactMatch MEDGEN:509882 semapv:UnspecifiedMatching MONDO:0001509 endocrine exophthalmos skos:exactMatch SCTID:276177000 semapv:UnspecifiedMatching MONDO:0001509 endocrine exophthalmos skos:exactMatch UMLS:C0155264 semapv:UnspecifiedMatching MONDO:0001510 lateral displacement of eye skos:exactMatch DOID:12360 lateral displacement of eye semapv:UnspecifiedMatching MONDO:0001510 lateral displacement of eye skos:exactMatch MEDGEN:509888 semapv:UnspecifiedMatching MONDO:0001510 lateral displacement of eye skos:exactMatch SCTID:48747004 semapv:UnspecifiedMatching MONDO:0001510 lateral displacement of eye skos:exactMatch UMLS:C0155272 semapv:UnspecifiedMatching MONDO:0001511 thyrotoxic exophthalmos skos:exactMatch DOID:12362 thyrotoxic exophthalmos semapv:UnspecifiedMatching MONDO:0001511 thyrotoxic exophthalmos skos:exactMatch MEDGEN:509883 semapv:UnspecifiedMatching MONDO:0001511 thyrotoxic exophthalmos skos:exactMatch SCTID:19885005 semapv:UnspecifiedMatching MONDO:0001511 thyrotoxic exophthalmos skos:exactMatch UMLS:C0155265 semapv:UnspecifiedMatching MONDO:0001512 intermittent proptosis skos:exactMatch DOID:12363 intermittent proptosis semapv:UnspecifiedMatching MONDO:0001512 intermittent proptosis skos:exactMatch ICD10CM:H05.25 Intermittent exophthalmos semapv:UnspecifiedMatching MONDO:0001512 intermittent proptosis skos:exactMatch MEDGEN:509886 semapv:UnspecifiedMatching MONDO:0001512 intermittent proptosis skos:exactMatch SCTID:49774006 semapv:UnspecifiedMatching MONDO:0001512 intermittent proptosis skos:exactMatch UMLS:C0155270 semapv:UnspecifiedMatching MONDO:0001513 pulsating exophthalmos skos:exactMatch DOID:12364 pulsating exophthalmos semapv:UnspecifiedMatching MONDO:0001513 pulsating exophthalmos skos:exactMatch ICD10CM:H05.26 Pulsating exophthalmos semapv:UnspecifiedMatching MONDO:0001513 pulsating exophthalmos skos:exactMatch MEDGEN:509887 semapv:UnspecifiedMatching MONDO:0001513 pulsating exophthalmos skos:exactMatch SCTID:2284002 semapv:UnspecifiedMatching MONDO:0001513 pulsating exophthalmos skos:exactMatch UMLS:C0155271 semapv:UnspecifiedMatching MONDO:0001513 pulsating exophthalmos skos:exactMatch icd11.foundation:1825207679 Pulsating exophthalmos semapv:UnspecifiedMatching MONDO:0001514 prolapse of urethra skos:exactMatch DOID:12369 prolapse of urethra semapv:UnspecifiedMatching MONDO:0001514 prolapse of urethra skos:exactMatch ICD10CM:N81.0 Urethrocele semapv:UnspecifiedMatching MONDO:0001514 prolapse of urethra skos:exactMatch MEDGEN:451007 semapv:UnspecifiedMatching MONDO:0001514 prolapse of urethra skos:exactMatch SCTID:12068006 semapv:UnspecifiedMatching MONDO:0001514 prolapse of urethra skos:exactMatch UMLS:C0238502 semapv:UnspecifiedMatching MONDO:0001515 corneal degeneration skos:exactMatch DOID:1237 corneal degeneration semapv:UnspecifiedMatching MONDO:0001515 corneal degeneration skos:exactMatch ICD10CM:H18.4 Corneal degeneration semapv:UnspecifiedMatching MONDO:0001515 corneal degeneration skos:exactMatch MEDGEN:56352 semapv:UnspecifiedMatching MONDO:0001515 corneal degeneration skos:exactMatch SCTID:111521006 semapv:UnspecifiedMatching MONDO:0001515 corneal degeneration skos:exactMatch UMLS:C0155118 semapv:UnspecifiedMatching MONDO:0001515 corneal degeneration skos:exactMatch icd11.foundation:699504167 Corneal degeneration semapv:UnspecifiedMatching MONDO:0001516 spinal muscular atrophy skos:exactMatch DOID:12377 spinal muscular atrophy semapv:UnspecifiedMatching MONDO:0001516 spinal muscular atrophy skos:exactMatch EFO:0008525 semapv:UnspecifiedMatching MONDO:0001516 spinal muscular atrophy skos:exactMatch MEDGEN:7755 semapv:UnspecifiedMatching MONDO:0001516 spinal muscular atrophy skos:exactMatch NCIT:C85075 Spinal Muscular Atrophy semapv:UnspecifiedMatching MONDO:0001516 spinal muscular atrophy skos:exactMatch OMIMPS:253300 Spinal muscular atrophy semapv:UnspecifiedMatching MONDO:0001516 spinal muscular atrophy skos:exactMatch SCTID:5262007 semapv:UnspecifiedMatching MONDO:0001516 spinal muscular atrophy skos:exactMatch UMLS:C0026847 semapv:UnspecifiedMatching MONDO:0001516 spinal muscular atrophy skos:exactMatch icd11.foundation:71074342 Spinal muscular atrophy semapv:UnspecifiedMatching MONDO:0001516 spinal muscular atrophy skos:exactMatch mesh:D009134 semapv:UnspecifiedMatching MONDO:0001517 dysentery skos:exactMatch DOID:12384 dysentery semapv:UnspecifiedMatching MONDO:0001517 dysentery skos:exactMatch EFO:1001869 semapv:UnspecifiedMatching MONDO:0001517 dysentery skos:exactMatch MEDGEN:3934 semapv:UnspecifiedMatching MONDO:0001517 dysentery skos:exactMatch SCTID:111939009 semapv:UnspecifiedMatching MONDO:0001517 dysentery skos:exactMatch SCTID:19213003 semapv:UnspecifiedMatching MONDO:0001517 dysentery skos:exactMatch UMLS:C0013369 semapv:UnspecifiedMatching MONDO:0001517 dysentery skos:exactMatch mesh:D004403 semapv:UnspecifiedMatching MONDO:0001518 spastic entropion skos:exactMatch DOID:12395 spastic entropion semapv:UnspecifiedMatching MONDO:0001518 spastic entropion skos:exactMatch MEDGEN:509839 semapv:UnspecifiedMatching MONDO:0001518 spastic entropion skos:exactMatch SCTID:20828000 semapv:UnspecifiedMatching MONDO:0001518 spastic entropion skos:exactMatch UMLS:C0155190 semapv:UnspecifiedMatching MONDO:0001519 entropion skos:exactMatch DOID:12397 entropion semapv:UnspecifiedMatching MONDO:0001519 entropion skos:exactMatch MEDGEN:41813 semapv:UnspecifiedMatching MONDO:0001519 entropion skos:exactMatch SCTID:33168009 semapv:UnspecifiedMatching MONDO:0001519 entropion skos:exactMatch UMLS:C0014390 semapv:UnspecifiedMatching MONDO:0001519 entropion skos:exactMatch mesh:D004774 semapv:UnspecifiedMatching MONDO:0001520 kleptomania skos:exactMatch DOID:12400 kleptomania semapv:UnspecifiedMatching MONDO:0001520 kleptomania skos:exactMatch ICD10CM:F63.2 Kleptomania semapv:UnspecifiedMatching MONDO:0001520 kleptomania skos:exactMatch MEDGEN:5974 semapv:UnspecifiedMatching MONDO:0001520 kleptomania skos:exactMatch NCIT:C94333 Kleptomania semapv:UnspecifiedMatching MONDO:0001520 kleptomania skos:exactMatch SCTID:69361009 semapv:UnspecifiedMatching MONDO:0001520 kleptomania skos:exactMatch UMLS:C0022734 semapv:UnspecifiedMatching MONDO:0001520 kleptomania skos:exactMatch icd11.foundation:804604349 Kleptomania semapv:UnspecifiedMatching MONDO:0001521 intermittent explosive disorder skos:exactMatch DOID:12401 intermittent explosive disorder semapv:UnspecifiedMatching MONDO:0001521 intermittent explosive disorder skos:exactMatch ICD10CM:F63.81 Intermittent explosive disorder semapv:UnspecifiedMatching MONDO:0001521 intermittent explosive disorder skos:exactMatch MEDGEN:7116 semapv:UnspecifiedMatching MONDO:0001521 intermittent explosive disorder skos:exactMatch NCIT:C94332 Intermittent Explosive Disorder semapv:UnspecifiedMatching MONDO:0001521 intermittent explosive disorder skos:exactMatch SCTID:231527003 semapv:UnspecifiedMatching MONDO:0001521 intermittent explosive disorder skos:exactMatch UMLS:C0021776 semapv:UnspecifiedMatching MONDO:0001521 intermittent explosive disorder skos:exactMatch icd11.foundation:295017661 Intermittent explosive disorder semapv:UnspecifiedMatching MONDO:0001522 pyromania skos:exactMatch DOID:12402 pyromania semapv:UnspecifiedMatching MONDO:0001522 pyromania skos:exactMatch ICD10CM:F63.1 Pyromania semapv:UnspecifiedMatching MONDO:0001522 pyromania skos:exactMatch MEDGEN:42028 semapv:UnspecifiedMatching MONDO:0001522 pyromania skos:exactMatch NCIT:C94334 Pyromania semapv:UnspecifiedMatching MONDO:0001522 pyromania skos:exactMatch SCTID:600009 semapv:UnspecifiedMatching MONDO:0001522 pyromania skos:exactMatch UMLS:C0016142 semapv:UnspecifiedMatching MONDO:0001522 pyromania skos:exactMatch icd11.foundation:1532500290 Pyromania semapv:UnspecifiedMatching MONDO:0001522 pyromania skos:exactMatch mesh:D005391 semapv:UnspecifiedMatching MONDO:0001523 luxation of globe skos:exactMatch DOID:1241 luxation of globe semapv:UnspecifiedMatching MONDO:0001523 luxation of globe skos:exactMatch ICD10CM:H44.82 Luxation of globe semapv:UnspecifiedMatching MONDO:0001523 luxation of globe skos:exactMatch MEDGEN:509664 semapv:UnspecifiedMatching MONDO:0001523 luxation of globe skos:exactMatch SCTID:20842008 semapv:UnspecifiedMatching MONDO:0001523 luxation of globe skos:exactMatch UMLS:C0154806 semapv:UnspecifiedMatching MONDO:0001525 thyrocalcitonin secretion disease skos:exactMatch DOID:12424 thyrocalcitonin secretion disease semapv:UnspecifiedMatching MONDO:0001525 thyrocalcitonin secretion disease skos:exactMatch MEDGEN:675237 semapv:UnspecifiedMatching MONDO:0001525 thyrocalcitonin secretion disease skos:exactMatch SCTID:190303007 semapv:UnspecifiedMatching MONDO:0001525 thyrocalcitonin secretion disease skos:exactMatch UMLS:C0701822 semapv:UnspecifiedMatching MONDO:0001526 labia minora cancer skos:exactMatch DOID:1243 labia minora cancer semapv:UnspecifiedMatching MONDO:0001526 labia minora cancer skos:exactMatch ICD10CM:C51.1 Malignant neoplasm of labium minus semapv:UnspecifiedMatching MONDO:0001526 labia minora cancer skos:exactMatch MEDGEN:96921 semapv:UnspecifiedMatching MONDO:0001526 labia minora cancer skos:exactMatch NCIT:C7637 Malignant Labia Minora Neoplasm semapv:UnspecifiedMatching MONDO:0001526 labia minora cancer skos:exactMatch SCTID:363447008 semapv:UnspecifiedMatching MONDO:0001526 labia minora cancer skos:exactMatch UMLS:C0496815 semapv:UnspecifiedMatching MONDO:0001527 conjugate gaze palsy skos:exactMatch DOID:12445 conjugate gaze palsy semapv:UnspecifiedMatching MONDO:0001527 conjugate gaze palsy skos:exactMatch MEDGEN:675273 semapv:UnspecifiedMatching MONDO:0001527 conjugate gaze palsy skos:exactMatch SCTID:1534008 semapv:UnspecifiedMatching MONDO:0001527 conjugate gaze palsy skos:exactMatch UMLS:C0702143 semapv:UnspecifiedMatching MONDO:0001528 vulva cancer skos:exactMatch DOID:1245 vulva cancer semapv:UnspecifiedMatching MONDO:0001528 vulva cancer skos:exactMatch ICD10CM:C51 Malignant neoplasm of vulva semapv:UnspecifiedMatching MONDO:0001528 vulva cancer skos:exactMatch MEDGEN:91196 semapv:UnspecifiedMatching MONDO:0001528 vulva cancer skos:exactMatch NCIT:C7502 Malignant Vulvar Neoplasm semapv:UnspecifiedMatching MONDO:0001528 vulva cancer skos:exactMatch SCTID:363367000 semapv:UnspecifiedMatching MONDO:0001528 vulva cancer skos:exactMatch UMLS:C0375071 semapv:UnspecifiedMatching MONDO:0001528 vulva cancer skos:exactMatch icd11.foundation:1530443809 Malignant neoplasms of vulva semapv:UnspecifiedMatching MONDO:0001528 vulva cancer skos:exactMatch mesh:D014846 semapv:UnspecifiedMatching MONDO:0001529 pancytopenia skos:exactMatch DOID:12450 pancytopenia semapv:UnspecifiedMatching MONDO:0001529 pancytopenia skos:exactMatch ICD10CM:D61.81 Pancytopenia semapv:UnspecifiedMatching MONDO:0001529 pancytopenia skos:exactMatch MEDGEN:18281 semapv:UnspecifiedMatching MONDO:0001529 pancytopenia skos:exactMatch NCIT:C34889 Pancytopenia semapv:UnspecifiedMatching MONDO:0001529 pancytopenia skos:exactMatch SCTID:127034005 semapv:UnspecifiedMatching MONDO:0001529 pancytopenia skos:exactMatch UMLS:C0030312 semapv:UnspecifiedMatching MONDO:0001529 pancytopenia skos:exactMatch mesh:D010198 semapv:UnspecifiedMatching MONDO:0001530 secondary hyperparathyroidism of renal origin skos:exactMatch DOID:12465 secondary hyperparathyroidism of renal origin semapv:UnspecifiedMatching MONDO:0001530 secondary hyperparathyroidism of renal origin skos:exactMatch ICD10CM:N25.81 Secondary hyperparathyroidism of renal origin semapv:UnspecifiedMatching MONDO:0001530 secondary hyperparathyroidism of renal origin skos:exactMatch MEDGEN:543606 semapv:UnspecifiedMatching MONDO:0001530 secondary hyperparathyroidism of renal origin skos:exactMatch SCTID:19034001 semapv:UnspecifiedMatching MONDO:0001530 secondary hyperparathyroidism of renal origin skos:exactMatch UMLS:C0271847 semapv:UnspecifiedMatching MONDO:0001530 secondary hyperparathyroidism of renal origin skos:exactMatch icd11.foundation:610229783 Secondary hyperparathyroidism of renal origin semapv:UnspecifiedMatching MONDO:0001531 blood coagulation disease skos:exactMatch DOID:1247 blood coagulation disease semapv:UnspecifiedMatching MONDO:0001531 blood coagulation disease skos:exactMatch EFO:0009314 semapv:UnspecifiedMatching MONDO:0001531 blood coagulation disease skos:exactMatch MEDGEN:604 semapv:UnspecifiedMatching MONDO:0001531 blood coagulation disease skos:exactMatch NCIT:C2902 Coagulation Disorder semapv:UnspecifiedMatching MONDO:0001531 blood coagulation disease skos:exactMatch SCTID:64779008 semapv:UnspecifiedMatching MONDO:0001531 blood coagulation disease skos:exactMatch UMLS:C0005779 semapv:UnspecifiedMatching MONDO:0001531 blood coagulation disease skos:exactMatch mesh:D001778 semapv:UnspecifiedMatching MONDO:0001532 capillariasis skos:exactMatch DOID:12474 capillariasis semapv:UnspecifiedMatching MONDO:0001532 capillariasis skos:exactMatch MEDGEN:507518 semapv:UnspecifiedMatching MONDO:0001532 capillariasis skos:exactMatch SCTID:52979002 semapv:UnspecifiedMatching MONDO:0001532 capillariasis skos:exactMatch UMLS:C0006897 semapv:UnspecifiedMatching MONDO:0001532 capillariasis skos:exactMatch icd11.foundation:839653996 Capillariasis semapv:UnspecifiedMatching MONDO:0001533 pes anserinus tendinitis or bursitis skos:exactMatch DOID:12475 pes anserinus bursitis semapv:UnspecifiedMatching MONDO:0001533 pes anserinus tendinitis or bursitis skos:exactMatch MEDGEN:592819 semapv:UnspecifiedMatching MONDO:0001533 pes anserinus tendinitis or bursitis skos:exactMatch UMLS:C0410086 semapv:UnspecifiedMatching MONDO:0001534 ocular hyperemia skos:exactMatch DOID:1248 ocular hyperemia semapv:UnspecifiedMatching MONDO:0001534 ocular hyperemia skos:exactMatch MEDGEN:509827 semapv:UnspecifiedMatching MONDO:0001534 ocular hyperemia skos:exactMatch SCTID:359610006 semapv:UnspecifiedMatching MONDO:0001534 ocular hyperemia skos:exactMatch UMLS:C0155169 semapv:UnspecifiedMatching MONDO:0001535 vagus nerve disorder skos:exactMatch DOID:12491 Vagus nerve disease semapv:UnspecifiedMatching MONDO:0001535 vagus nerve disorder skos:exactMatch MEDGEN:101824 semapv:UnspecifiedMatching MONDO:0001535 vagus nerve disorder skos:exactMatch NCIT:C27591 Vagus Nerve Disorder semapv:UnspecifiedMatching MONDO:0001535 vagus nerve disorder skos:exactMatch SCTID:73765005 semapv:UnspecifiedMatching MONDO:0001535 vagus nerve disorder skos:exactMatch UMLS:C0152179 semapv:UnspecifiedMatching MONDO:0001535 vagus nerve disorder skos:exactMatch mesh:D020421 semapv:UnspecifiedMatching MONDO:0001536 vaginal leiomyoma skos:exactMatch DOID:125 vagina leiomyoma semapv:UnspecifiedMatching MONDO:0001536 vaginal leiomyoma skos:exactMatch MEDGEN:277859 semapv:UnspecifiedMatching MONDO:0001536 vaginal leiomyoma skos:exactMatch NCIT:C6373 Vaginal Leiomyoma semapv:UnspecifiedMatching MONDO:0001536 vaginal leiomyoma skos:exactMatch UMLS:C1336939 semapv:UnspecifiedMatching MONDO:0001537 tuberculous epididymitis skos:exactMatch DOID:1251 tuberculous epididymitis semapv:UnspecifiedMatching MONDO:0001537 tuberculous epididymitis skos:exactMatch MEDGEN:509077 semapv:UnspecifiedMatching MONDO:0001537 tuberculous epididymitis skos:exactMatch SCTID:83652003 semapv:UnspecifiedMatching MONDO:0001537 tuberculous epididymitis skos:exactMatch UMLS:C0152814 semapv:UnspecifiedMatching MONDO:0001537 tuberculous epididymitis skos:exactMatch icd11.foundation:1092166548 Tuberculous epididymitis semapv:UnspecifiedMatching MONDO:0001538 retinal ischemia skos:exactMatch DOID:12510 retinal ischemia semapv:UnspecifiedMatching MONDO:0001538 retinal ischemia skos:exactMatch ICD10CM:H35.82 Retinal ischemia semapv:UnspecifiedMatching MONDO:0001538 retinal ischemia skos:exactMatch MEDGEN:102372 semapv:UnspecifiedMatching MONDO:0001538 retinal ischemia skos:exactMatch SCTID:26468004 semapv:UnspecifiedMatching MONDO:0001538 retinal ischemia skos:exactMatch UMLS:C0162291 semapv:UnspecifiedMatching MONDO:0001539 retinal perforation skos:exactMatch DOID:12514 retinal perforation semapv:UnspecifiedMatching MONDO:0001539 retinal perforation skos:exactMatch MEDGEN:48435 semapv:UnspecifiedMatching MONDO:0001539 retinal perforation skos:exactMatch SCTID:232003005 semapv:UnspecifiedMatching MONDO:0001539 retinal perforation skos:exactMatch UMLS:C0035321 semapv:UnspecifiedMatching MONDO:0001539 retinal perforation skos:exactMatch mesh:D012167 semapv:UnspecifiedMatching MONDO:0001540 bagassosis skos:exactMatch DOID:12522 bagassosis semapv:UnspecifiedMatching MONDO:0001540 bagassosis skos:exactMatch ICD10CM:J67.1 Bagassosis semapv:UnspecifiedMatching MONDO:0001540 bagassosis skos:exactMatch MEDGEN:2539 semapv:UnspecifiedMatching MONDO:0001540 bagassosis skos:exactMatch NCIT:C34409 Bagassosis semapv:UnspecifiedMatching MONDO:0001540 bagassosis skos:exactMatch SCTID:67242002 semapv:UnspecifiedMatching MONDO:0001540 bagassosis skos:exactMatch UMLS:C0004681 semapv:UnspecifiedMatching MONDO:0001540 bagassosis skos:exactMatch icd11.foundation:1123061945 Bagassosis semapv:UnspecifiedMatching MONDO:0001541 plantar nerve lesion skos:exactMatch DOID:12524 plantar nerve lesion semapv:UnspecifiedMatching MONDO:0001541 plantar nerve lesion skos:exactMatch ICD10CM:G57.6 Lesion of plantar nerve semapv:UnspecifiedMatching MONDO:0001541 plantar nerve lesion skos:exactMatch MEDGEN:509644 semapv:UnspecifiedMatching MONDO:0001541 plantar nerve lesion skos:exactMatch SCTID:193148004 semapv:UnspecifiedMatching MONDO:0001541 plantar nerve lesion skos:exactMatch UMLS:C0154752 semapv:UnspecifiedMatching MONDO:0001542 common peroneal nerve lesion skos:exactMatch DOID:12527 common peroneal nerve lesion semapv:UnspecifiedMatching MONDO:0001542 common peroneal nerve lesion skos:exactMatch MEDGEN:543054 semapv:UnspecifiedMatching MONDO:0001542 common peroneal nerve lesion skos:exactMatch SCTID:399107008 semapv:UnspecifiedMatching MONDO:0001542 common peroneal nerve lesion skos:exactMatch UMLS:C0270909 semapv:UnspecifiedMatching MONDO:0001543 lesion of sciatic nerve skos:exactMatch DOID:12528 lesion of sciatic nerve semapv:UnspecifiedMatching MONDO:0001543 lesion of sciatic nerve skos:exactMatch ICD10CM:G57.0 Lesion of sciatic nerve semapv:UnspecifiedMatching MONDO:0001543 lesion of sciatic nerve skos:exactMatch MEDGEN:56346 semapv:UnspecifiedMatching MONDO:0001543 lesion of sciatic nerve skos:exactMatch SCTID:367137004 semapv:UnspecifiedMatching MONDO:0001543 lesion of sciatic nerve skos:exactMatch UMLS:C0154748 semapv:UnspecifiedMatching MONDO:0001543 lesion of sciatic nerve skos:exactMatch icd11.foundation:1358497313 Lesion of sciatic nerve semapv:UnspecifiedMatching MONDO:0001544 tibial nerve palsy skos:exactMatch DOID:12529 tibial nerve palsy semapv:UnspecifiedMatching MONDO:0001544 tibial nerve palsy skos:exactMatch MEDGEN:509643 semapv:UnspecifiedMatching MONDO:0001544 tibial nerve palsy skos:exactMatch SCTID:365258000 semapv:UnspecifiedMatching MONDO:0001544 tibial nerve palsy skos:exactMatch UMLS:C0154751 semapv:UnspecifiedMatching MONDO:0001546 hypermobility of coccyx skos:exactMatch DOID:12537 hypermobility of coccyx semapv:UnspecifiedMatching MONDO:0001546 hypermobility of coccyx skos:exactMatch MEDGEN:510502 semapv:UnspecifiedMatching MONDO:0001546 hypermobility of coccyx skos:exactMatch SCTID:202809009 semapv:UnspecifiedMatching MONDO:0001546 hypermobility of coccyx skos:exactMatch UMLS:C0158295 semapv:UnspecifiedMatching MONDO:0001546 hypermobility of coccyx skos:exactMatch icd11.foundation:588794167 Hypermobility of coccyx semapv:UnspecifiedMatching MONDO:0001547 atrophic nonflaccid tympanic membrane skos:exactMatch DOID:12546 atrophic nonflaccid tympanic membrane semapv:UnspecifiedMatching MONDO:0001547 atrophic nonflaccid tympanic membrane skos:exactMatch ICD10CM:H73.82 Atrophic nonflaccid tympanic membrane semapv:UnspecifiedMatching MONDO:0001547 atrophic nonflaccid tympanic membrane skos:exactMatch MEDGEN:509983 semapv:UnspecifiedMatching MONDO:0001547 atrophic nonflaccid tympanic membrane skos:exactMatch SCTID:72052003 semapv:UnspecifiedMatching MONDO:0001547 atrophic nonflaccid tympanic membrane skos:exactMatch UMLS:C0155471 semapv:UnspecifiedMatching MONDO:0001548 hepatic coma skos:exactMatch DOID:12550 hepatic coma semapv:UnspecifiedMatching MONDO:0001548 hepatic coma skos:exactMatch MEDGEN:6803 semapv:UnspecifiedMatching MONDO:0001548 hepatic coma skos:exactMatch SCTID:72836002 semapv:UnspecifiedMatching MONDO:0001548 hepatic coma skos:exactMatch UMLS:C0019147 semapv:UnspecifiedMatching MONDO:0001548 hepatic coma skos:exactMatch icd11.foundation:1021642894 Hepatic coma semapv:UnspecifiedMatching MONDO:0001549 hemolytic-uremic syndrome skos:exactMatch DOID:12554 hemolytic-uremic syndrome semapv:UnspecifiedMatching MONDO:0001549 hemolytic-uremic syndrome skos:exactMatch ICD10CM:D59.3 Hemolytic-uremic syndrome semapv:UnspecifiedMatching MONDO:0001549 hemolytic-uremic syndrome skos:exactMatch MEDGEN:42403 semapv:UnspecifiedMatching MONDO:0001549 hemolytic-uremic syndrome skos:exactMatch NCIT:C75545 Hemolytic Uremic Syndrome semapv:UnspecifiedMatching MONDO:0001549 hemolytic-uremic syndrome skos:exactMatch Orphanet:544458 Hemolytic uremic syndrome semapv:UnspecifiedMatching MONDO:0001549 hemolytic-uremic syndrome skos:exactMatch SCTID:111407006 semapv:UnspecifiedMatching MONDO:0001549 hemolytic-uremic syndrome skos:exactMatch UMLS:C0019061 semapv:UnspecifiedMatching MONDO:0001549 hemolytic-uremic syndrome skos:exactMatch mesh:D006463 semapv:UnspecifiedMatching MONDO:0001551 ulceration of vulva skos:exactMatch DOID:12566 ulceration of vulva semapv:UnspecifiedMatching MONDO:0001551 ulceration of vulva skos:exactMatch ICD10CM:N76.6 Ulceration of vulva semapv:UnspecifiedMatching MONDO:0001551 ulceration of vulva skos:exactMatch MEDGEN:510247 semapv:UnspecifiedMatching MONDO:0001551 ulceration of vulva skos:exactMatch SCTID:68640004 semapv:UnspecifiedMatching MONDO:0001551 ulceration of vulva skos:exactMatch UMLS:C0156339 semapv:UnspecifiedMatching MONDO:0001552 dyscalculia skos:exactMatch DOID:12568 dyscalculia semapv:UnspecifiedMatching MONDO:0001552 dyscalculia skos:exactMatch ICD10CM:F81.2 Mathematics disorder semapv:UnspecifiedMatching MONDO:0001552 dyscalculia skos:exactMatch MEDGEN:452779 semapv:UnspecifiedMatching MONDO:0001552 dyscalculia skos:exactMatch NCIT:C97165 Dyscalculia semapv:UnspecifiedMatching MONDO:0001552 dyscalculia skos:exactMatch SCTID:47916000 semapv:UnspecifiedMatching MONDO:0001552 dyscalculia skos:exactMatch UMLS:C0869474 semapv:UnspecifiedMatching MONDO:0001552 dyscalculia skos:exactMatch icd11.foundation:308101648 Dyscalculia semapv:UnspecifiedMatching MONDO:0001552 dyscalculia skos:exactMatch mesh:D060705 semapv:UnspecifiedMatching MONDO:0001553 phacolytic glaucoma skos:exactMatch DOID:12570 phacolytic glaucoma semapv:UnspecifiedMatching MONDO:0001553 phacolytic glaucoma skos:exactMatch MEDGEN:508901 semapv:UnspecifiedMatching MONDO:0001553 phacolytic glaucoma skos:exactMatch SCTID:32893002 semapv:UnspecifiedMatching MONDO:0001553 phacolytic glaucoma skos:exactMatch UMLS:C0152137 semapv:UnspecifiedMatching MONDO:0001553 phacolytic glaucoma skos:exactMatch icd11.foundation:1566213590 Phacolytic glaucoma semapv:UnspecifiedMatching MONDO:0001554 phacogenic glaucoma skos:exactMatch DOID:12571 phacogenic glaucoma semapv:UnspecifiedMatching MONDO:0001554 phacogenic glaucoma skos:exactMatch MEDGEN:543189 semapv:UnspecifiedMatching MONDO:0001554 phacogenic glaucoma skos:exactMatch SCTID:392300000 semapv:UnspecifiedMatching MONDO:0001554 phacogenic glaucoma skos:exactMatch UMLS:C0271142 semapv:UnspecifiedMatching MONDO:0001555 neonatal thyrotoxicosis skos:exactMatch DOID:12573 neonatal thyrotoxicosis semapv:UnspecifiedMatching MONDO:0001555 neonatal thyrotoxicosis skos:exactMatch MEDGEN:510684 semapv:UnspecifiedMatching MONDO:0001555 neonatal thyrotoxicosis skos:exactMatch NCIT:C114906 Neonatal Thyrotoxicosis semapv:UnspecifiedMatching MONDO:0001555 neonatal thyrotoxicosis skos:exactMatch SCTID:13795004 semapv:UnspecifiedMatching MONDO:0001555 neonatal thyrotoxicosis skos:exactMatch UMLS:C0158983 semapv:UnspecifiedMatching MONDO:0001556 urethral obstruction skos:exactMatch DOID:12577 urethral obstruction semapv:UnspecifiedMatching MONDO:0001556 urethral obstruction skos:exactMatch MEDGEN:12015 semapv:UnspecifiedMatching MONDO:0001556 urethral obstruction skos:exactMatch SCTID:95588004 semapv:UnspecifiedMatching MONDO:0001556 urethral obstruction skos:exactMatch UMLS:C0041972 semapv:UnspecifiedMatching MONDO:0001556 urethral obstruction skos:exactMatch mesh:D014524 semapv:UnspecifiedMatching MONDO:0001557 olecranon bursitis skos:exactMatch DOID:12581 olecranon bursitis semapv:UnspecifiedMatching MONDO:0001557 olecranon bursitis skos:exactMatch ICD10CM:M70.2 Olecranon bursitis semapv:UnspecifiedMatching MONDO:0001557 olecranon bursitis skos:exactMatch MEDGEN:538225 semapv:UnspecifiedMatching MONDO:0001557 olecranon bursitis skos:exactMatch SCTID:425940002 semapv:UnspecifiedMatching MONDO:0001557 olecranon bursitis skos:exactMatch UMLS:C0263962 semapv:UnspecifiedMatching MONDO:0001558 Potter sequence skos:exactMatch DOID:12594 Potter's syndrome semapv:UnspecifiedMatching MONDO:0001558 Potter sequence skos:exactMatch ICD10CM:Q60.6 Potter's syndrome semapv:UnspecifiedMatching MONDO:0001558 Potter sequence skos:exactMatch MEDGEN:472617 semapv:UnspecifiedMatching MONDO:0001558 Potter sequence skos:exactMatch NCIT:C40435 Potter Syndrome semapv:UnspecifiedMatching MONDO:0001558 Potter sequence skos:exactMatch SCTID:41962002 semapv:UnspecifiedMatching MONDO:0001558 Potter sequence skos:exactMatch UMLS:C0178426 semapv:UnspecifiedMatching MONDO:0001559 perineocele skos:exactMatch DOID:12637 perineocele semapv:UnspecifiedMatching MONDO:0001559 perineocele skos:exactMatch ICD10CM:N81.81 Perineocele semapv:UnspecifiedMatching MONDO:0001559 perineocele skos:exactMatch MEDGEN:1843478 semapv:UnspecifiedMatching MONDO:0001559 perineocele skos:exactMatch UMLS:C1456251 semapv:UnspecifiedMatching MONDO:0001560 hypertrophic pyloric stenosis skos:exactMatch DOID:12638 hypertrophic pyloric stenosis semapv:UnspecifiedMatching MONDO:0001560 hypertrophic pyloric stenosis skos:exactMatch EFO:0004707 semapv:UnspecifiedMatching MONDO:0001560 hypertrophic pyloric stenosis skos:exactMatch ICD10CM:Q40.0 Congenital hypertrophic pyloric stenosis semapv:UnspecifiedMatching MONDO:0001560 hypertrophic pyloric stenosis skos:exactMatch NCIT:C98952 Hypertrophic Pyloric Stenosis semapv:UnspecifiedMatching MONDO:0001560 hypertrophic pyloric stenosis skos:exactMatch SCTID:48644003 semapv:UnspecifiedMatching MONDO:0001560 hypertrophic pyloric stenosis skos:exactMatch mesh:D046248 semapv:UnspecifiedMatching MONDO:0001561 pyloric stenosis skos:exactMatch DOID:12639 pyloric stenosis semapv:UnspecifiedMatching MONDO:0001561 pyloric stenosis skos:exactMatch DOID:3122 gastric outlet obstruction semapv:UnspecifiedMatching MONDO:0001561 pyloric stenosis skos:exactMatch EFO:0009626 semapv:UnspecifiedMatching MONDO:0001561 pyloric stenosis skos:exactMatch MEDGEN:18780 semapv:UnspecifiedMatching MONDO:0001561 pyloric stenosis skos:exactMatch NCIT:C34966 Pyloric Stenosis semapv:UnspecifiedMatching MONDO:0001561 pyloric stenosis skos:exactMatch SCTID:367403001 semapv:UnspecifiedMatching MONDO:0001561 pyloric stenosis skos:exactMatch UMLS:C0034194 semapv:UnspecifiedMatching MONDO:0001561 pyloric stenosis skos:exactMatch mesh:D011707 semapv:UnspecifiedMatching MONDO:0001561 pyloric stenosis skos:exactMatch mesh:D017219 semapv:UnspecifiedMatching MONDO:0001562 displacement of cardia through esophageal hiatus skos:exactMatch DOID:12641 displacement of cardia through esophageal hiatus semapv:UnspecifiedMatching MONDO:0001562 displacement of cardia through esophageal hiatus skos:exactMatch ICD10CM:Q40.1 Congenital hiatus hernia semapv:UnspecifiedMatching MONDO:0001562 displacement of cardia through esophageal hiatus skos:exactMatch MEDGEN:510622 semapv:UnspecifiedMatching MONDO:0001562 displacement of cardia through esophageal hiatus skos:exactMatch SCTID:47028006 semapv:UnspecifiedMatching MONDO:0001562 displacement of cardia through esophageal hiatus skos:exactMatch UMLS:C0158674 semapv:UnspecifiedMatching MONDO:0001563 vestibulocochlear nerve disorder skos:exactMatch DOID:12657 vestibulocochlear nerve disease semapv:UnspecifiedMatching MONDO:0001563 vestibulocochlear nerve disorder skos:exactMatch MEDGEN:1724 semapv:UnspecifiedMatching MONDO:0001563 vestibulocochlear nerve disorder skos:exactMatch NCIT:C27207 Vestibulocochlear Nerve Disorder semapv:UnspecifiedMatching MONDO:0001563 vestibulocochlear nerve disorder skos:exactMatch SCTID:77949003 semapv:UnspecifiedMatching MONDO:0001563 vestibulocochlear nerve disorder skos:exactMatch UMLS:C0001163 semapv:UnspecifiedMatching MONDO:0001563 vestibulocochlear nerve disorder skos:exactMatch mesh:D000160 semapv:UnspecifiedMatching MONDO:0001564 binocular vision disease skos:exactMatch DOID:12667 binocular vision disease semapv:UnspecifiedMatching MONDO:0001564 binocular vision disease skos:exactMatch EFO:0009535 semapv:UnspecifiedMatching MONDO:0001564 binocular vision disease skos:exactMatch MEDGEN:571 semapv:UnspecifiedMatching MONDO:0001564 binocular vision disease skos:exactMatch NCIT:C34422 Binocular Vision Disorder semapv:UnspecifiedMatching MONDO:0001564 binocular vision disease skos:exactMatch SCTID:83275001 semapv:UnspecifiedMatching MONDO:0001564 binocular vision disease skos:exactMatch UMLS:C0005461 semapv:UnspecifiedMatching MONDO:0001565 abnormal retinal correspondence skos:exactMatch DOID:12668 abnormal retinal correspondence semapv:UnspecifiedMatching MONDO:0001565 abnormal retinal correspondence skos:exactMatch ICD10CM:H53.31 Abnormal retinal correspondence semapv:UnspecifiedMatching MONDO:0001565 abnormal retinal correspondence skos:exactMatch MEDGEN:509763 semapv:UnspecifiedMatching MONDO:0001565 abnormal retinal correspondence skos:exactMatch SCTID:79195003 semapv:UnspecifiedMatching MONDO:0001565 abnormal retinal correspondence skos:exactMatch UMLS:C0155010 semapv:UnspecifiedMatching MONDO:0001565 abnormal retinal correspondence skos:exactMatch icd11.foundation:119512999 Abnormal retinal correspondence semapv:UnspecifiedMatching MONDO:0001566 hypercalcemia disease skos:exactMatch DOID:12678 hypercalcemia semapv:UnspecifiedMatching MONDO:0001566 hypercalcemia disease skos:exactMatch ICD10CM:E83.52 Hypercalcemia semapv:UnspecifiedMatching MONDO:0001566 hypercalcemia disease skos:exactMatch MEDGEN:5686 semapv:UnspecifiedMatching MONDO:0001566 hypercalcemia disease skos:exactMatch NCIT:C3112 Hypercalcemia semapv:UnspecifiedMatching MONDO:0001566 hypercalcemia disease skos:exactMatch SCTID:66931009 semapv:UnspecifiedMatching MONDO:0001566 hypercalcemia disease skos:exactMatch UMLS:C0020437 semapv:UnspecifiedMatching MONDO:0001566 hypercalcemia disease skos:exactMatch mesh:D006934 semapv:UnspecifiedMatching MONDO:0001567 nephrocalcinosis skos:exactMatch DOID:12679 nephrocalcinosis semapv:UnspecifiedMatching MONDO:0001567 nephrocalcinosis skos:exactMatch MEDGEN:10222 semapv:UnspecifiedMatching MONDO:0001567 nephrocalcinosis skos:exactMatch NCIT:C84918 Nephrocalcinosis semapv:UnspecifiedMatching MONDO:0001567 nephrocalcinosis skos:exactMatch SCTID:48638002 semapv:UnspecifiedMatching MONDO:0001567 nephrocalcinosis skos:exactMatch UMLS:C0027709 semapv:UnspecifiedMatching MONDO:0001567 nephrocalcinosis skos:exactMatch icd11.foundation:1359282431 Nephrocalcinosis semapv:UnspecifiedMatching MONDO:0001567 nephrocalcinosis skos:exactMatch mesh:D009397 semapv:UnspecifiedMatching MONDO:0001568 mixed receptive-expressive language disorder skos:exactMatch DOID:12685 mixed receptive-expressive language disorder semapv:UnspecifiedMatching MONDO:0001568 mixed receptive-expressive language disorder skos:exactMatch ICD10CM:F80.2 Mixed receptive-expressive language disorder semapv:UnspecifiedMatching MONDO:0001568 mixed receptive-expressive language disorder skos:exactMatch MEDGEN:452301 semapv:UnspecifiedMatching MONDO:0001568 mixed receptive-expressive language disorder skos:exactMatch NCIT:C92563 Mixed Receptive-Expressive Language Disorder semapv:UnspecifiedMatching MONDO:0001568 mixed receptive-expressive language disorder skos:exactMatch SCTID:25766007 semapv:UnspecifiedMatching MONDO:0001568 mixed receptive-expressive language disorder skos:exactMatch UMLS:C0236827 semapv:UnspecifiedMatching MONDO:0001569 acoustic neuroma skos:exactMatch DOID:12689 acoustic neuroma semapv:UnspecifiedMatching MONDO:0001569 acoustic neuroma skos:exactMatch MEDGEN:45062 semapv:UnspecifiedMatching MONDO:0001569 acoustic neuroma skos:exactMatch NCIT:C3276 Vestibular Schwannoma semapv:UnspecifiedMatching MONDO:0001569 acoustic neuroma skos:exactMatch Orphanet:252175 Vestibular schwannoma semapv:UnspecifiedMatching MONDO:0001569 acoustic neuroma skos:exactMatch SCTID:126949007 semapv:UnspecifiedMatching MONDO:0001569 acoustic neuroma skos:exactMatch UMLS:C0027859 semapv:UnspecifiedMatching MONDO:0001569 acoustic neuroma skos:exactMatch icd11.foundation:480288993 Acoustic neuroma semapv:UnspecifiedMatching MONDO:0001569 acoustic neuroma skos:exactMatch mesh:D009464 semapv:UnspecifiedMatching MONDO:0001571 gynecomastia disorder skos:exactMatch DOID:12698 gynecomastia semapv:UnspecifiedMatching MONDO:0001571 gynecomastia disorder skos:exactMatch MEDGEN:6694 semapv:UnspecifiedMatching MONDO:0001571 gynecomastia disorder skos:exactMatch NCIT:C3073 Gynecomastia semapv:UnspecifiedMatching MONDO:0001571 gynecomastia disorder skos:exactMatch SCTID:4754008 semapv:UnspecifiedMatching MONDO:0001571 gynecomastia disorder skos:exactMatch UMLS:C0018418 semapv:UnspecifiedMatching MONDO:0001571 gynecomastia disorder skos:exactMatch mesh:D006177 semapv:UnspecifiedMatching MONDO:0001572 leiomyoma skos:exactMatch DOID:127 leiomyoma semapv:UnspecifiedMatching MONDO:0001572 leiomyoma skos:exactMatch MEDGEN:9710 semapv:UnspecifiedMatching MONDO:0001572 leiomyoma skos:exactMatch SCTID:146801000119103 semapv:UnspecifiedMatching MONDO:0001572 leiomyoma skos:exactMatch UMLS:C0023267 semapv:UnspecifiedMatching MONDO:0001572 leiomyoma skos:exactMatch mesh:D007889 semapv:UnspecifiedMatching MONDO:0001574 capillary disorder skos:exactMatch DOID:1271 capillary disease semapv:UnspecifiedMatching MONDO:0001574 capillary disorder skos:exactMatch MEDGEN:510074 semapv:UnspecifiedMatching MONDO:0001574 capillary disorder skos:exactMatch SCTID:58729003 semapv:UnspecifiedMatching MONDO:0001574 capillary disorder skos:exactMatch UMLS:C0155765 semapv:UnspecifiedMatching MONDO:0001575 chronic gonococcal salpingitis skos:exactMatch DOID:12718 chronic gonococcal salpingitis semapv:UnspecifiedMatching MONDO:0001575 chronic gonococcal salpingitis skos:exactMatch MEDGEN:509205 semapv:UnspecifiedMatching MONDO:0001575 chronic gonococcal salpingitis skos:exactMatch SCTID:53529004 semapv:UnspecifiedMatching MONDO:0001575 chronic gonococcal salpingitis skos:exactMatch UMLS:C0153208 semapv:UnspecifiedMatching MONDO:0001575 chronic gonococcal salpingitis skos:exactMatch icd11.foundation:1233448408 Chronic gonococcal salpingitis semapv:UnspecifiedMatching MONDO:0001576 telangiectasis skos:exactMatch DOID:1272 telangiectasis semapv:UnspecifiedMatching MONDO:0001576 telangiectasis skos:exactMatch MEDGEN:21088 semapv:UnspecifiedMatching MONDO:0001576 telangiectasis skos:exactMatch NCIT:C28194 Telangiectasia semapv:UnspecifiedMatching MONDO:0001576 telangiectasis skos:exactMatch SCTID:247479008 semapv:UnspecifiedMatching MONDO:0001576 telangiectasis skos:exactMatch UMLS:C0039446 semapv:UnspecifiedMatching MONDO:0001576 telangiectasis skos:exactMatch mesh:D013684 semapv:UnspecifiedMatching MONDO:0001577 respiratory syncytial virus infectious disease skos:exactMatch DOID:1273 respiratory syncytial virus infectious disease semapv:UnspecifiedMatching MONDO:0001577 respiratory syncytial virus infectious disease skos:exactMatch EFO:1001413 semapv:UnspecifiedMatching MONDO:0001577 respiratory syncytial virus infectious disease skos:exactMatch MEDGEN:48424 semapv:UnspecifiedMatching MONDO:0001577 respiratory syncytial virus infectious disease skos:exactMatch NCIT:C3354 Respiratory Syncytial Virus Infection semapv:UnspecifiedMatching MONDO:0001577 respiratory syncytial virus infectious disease skos:exactMatch SCTID:55735004 semapv:UnspecifiedMatching MONDO:0001577 respiratory syncytial virus infectious disease skos:exactMatch UMLS:C0035235 semapv:UnspecifiedMatching MONDO:0001577 respiratory syncytial virus infectious disease skos:exactMatch mesh:D018357 semapv:UnspecifiedMatching MONDO:0001578 obsolete hernia of ovary and fallopian tube skos:exactMatch DOID:12735 hernia of ovary and fallopian tube semapv:UnspecifiedMatching MONDO:0001579 corneal staphyloma skos:exactMatch DOID:12753 corneal staphyloma semapv:UnspecifiedMatching MONDO:0001579 corneal staphyloma skos:exactMatch ICD10CM:H18.72 Corneal staphyloma semapv:UnspecifiedMatching MONDO:0001579 corneal staphyloma skos:exactMatch MEDGEN:509034 semapv:UnspecifiedMatching MONDO:0001579 corneal staphyloma skos:exactMatch SCTID:52476003 semapv:UnspecifiedMatching MONDO:0001579 corneal staphyloma skos:exactMatch UMLS:C0152440 semapv:UnspecifiedMatching MONDO:0001579 corneal staphyloma skos:exactMatch icd11.foundation:212928655 Corneal staphyloma semapv:UnspecifiedMatching MONDO:0001580 lacrimal duct cancer skos:exactMatch DOID:12756 lacrimal duct cancer semapv:UnspecifiedMatching MONDO:0001580 lacrimal duct cancer skos:exactMatch MEDGEN:57795 semapv:UnspecifiedMatching MONDO:0001580 lacrimal duct cancer skos:exactMatch NCIT:C175319 Malignant Lacrimal Drainage System Neoplasm semapv:UnspecifiedMatching MONDO:0001580 lacrimal duct cancer skos:exactMatch NCIT:C3567 Malignant Nasolacrimal Duct Neoplasm semapv:UnspecifiedMatching MONDO:0001580 lacrimal duct cancer skos:exactMatch SCTID:188274004 semapv:UnspecifiedMatching MONDO:0001580 lacrimal duct cancer skos:exactMatch UMLS:C0153631 semapv:UnspecifiedMatching MONDO:0001582 cicatricial ectropion skos:exactMatch DOID:12782 cicatricial ectropion semapv:UnspecifiedMatching MONDO:0001582 cicatricial ectropion skos:exactMatch MEDGEN:102327 semapv:UnspecifiedMatching MONDO:0001582 cicatricial ectropion skos:exactMatch SCTID:28914006 semapv:UnspecifiedMatching MONDO:0001582 cicatricial ectropion skos:exactMatch UMLS:C0155196 semapv:UnspecifiedMatching MONDO:0001583 diabetic polyneuropathy skos:exactMatch DOID:12785 diabetic polyneuropathy semapv:UnspecifiedMatching MONDO:0001583 diabetic polyneuropathy skos:exactMatch MEDGEN:75763 semapv:UnspecifiedMatching MONDO:0001583 diabetic polyneuropathy skos:exactMatch SCTID:49455004 semapv:UnspecifiedMatching MONDO:0001583 diabetic polyneuropathy skos:exactMatch UMLS:C0271680 semapv:UnspecifiedMatching MONDO:0001583 diabetic polyneuropathy skos:exactMatch icd11.foundation:1837670870 Diabetic polyneuropathy semapv:UnspecifiedMatching MONDO:0001584 ocular motility disease skos:exactMatch DOID:1279 ocular motility disease semapv:UnspecifiedMatching MONDO:0001584 ocular motility disease skos:exactMatch EFO:1001990 semapv:UnspecifiedMatching MONDO:0001584 ocular motility disease skos:exactMatch MEDGEN:14457 semapv:UnspecifiedMatching MONDO:0001584 ocular motility disease skos:exactMatch SCTID:45030009 semapv:UnspecifiedMatching MONDO:0001584 ocular motility disease skos:exactMatch UMLS:C0028850 semapv:UnspecifiedMatching MONDO:0001585 hallucinogen abuse skos:exactMatch DOID:12797 hallucinogen abuse semapv:UnspecifiedMatching MONDO:0001585 hallucinogen abuse skos:exactMatch ICD10CM:F16.1 Hallucinogen abuse semapv:UnspecifiedMatching MONDO:0001585 hallucinogen abuse skos:exactMatch MEDGEN:507771 semapv:UnspecifiedMatching MONDO:0001585 hallucinogen abuse skos:exactMatch SCTID:74851005 semapv:UnspecifiedMatching MONDO:0001585 hallucinogen abuse skos:exactMatch UMLS:C0018526 semapv:UnspecifiedMatching MONDO:0001586 mucopolysaccharidosis type 1 skos:exactMatch DOID:12802 mucopolysaccharidosis I semapv:UnspecifiedMatching MONDO:0001586 mucopolysaccharidosis type 1 skos:exactMatch MEDGEN:44171 semapv:UnspecifiedMatching MONDO:0001586 mucopolysaccharidosis type 1 skos:exactMatch NCIT:C85053 Mucopolysaccharidosis Type I semapv:UnspecifiedMatching MONDO:0001586 mucopolysaccharidosis type 1 skos:exactMatch Orphanet:579 Mucopolysaccharidosis type 1 semapv:UnspecifiedMatching MONDO:0001586 mucopolysaccharidosis type 1 skos:exactMatch SCTID:75610003 semapv:UnspecifiedMatching MONDO:0001586 mucopolysaccharidosis type 1 skos:exactMatch UMLS:C0023786 semapv:UnspecifiedMatching MONDO:0001586 mucopolysaccharidosis type 1 skos:exactMatch icd11.foundation:1539226250 Mucopolysaccharidosis type 1 semapv:UnspecifiedMatching MONDO:0001588 chronic lacrimal gland enlargement skos:exactMatch DOID:12809 chronic lacrimal gland enlargement semapv:UnspecifiedMatching MONDO:0001588 chronic lacrimal gland enlargement skos:exactMatch ICD10CM:H04.03 Chronic enlargement of lacrimal gland semapv:UnspecifiedMatching MONDO:0001588 chronic lacrimal gland enlargement skos:exactMatch MEDGEN:721929 semapv:UnspecifiedMatching MONDO:0001588 chronic lacrimal gland enlargement skos:exactMatch SCTID:4839005 semapv:UnspecifiedMatching MONDO:0001588 chronic lacrimal gland enlargement skos:exactMatch UMLS:C1300133 semapv:UnspecifiedMatching MONDO:0001589 obsolete vaginal enterocele skos:exactMatch DOID:1283 enterocele semapv:UnspecifiedMatching MONDO:0001589 obsolete vaginal enterocele skos:exactMatch SCTID:398061002 semapv:UnspecifiedMatching MONDO:0001590 quadriplegia skos:exactMatch DOID:12835 quadriplegia semapv:UnspecifiedMatching MONDO:0001590 quadriplegia skos:exactMatch EFO:0009684 semapv:UnspecifiedMatching MONDO:0001590 quadriplegia skos:exactMatch ICD10CM:G82.5 Quadriplegia semapv:UnspecifiedMatching MONDO:0001590 quadriplegia skos:exactMatch MEDGEN:19617 semapv:UnspecifiedMatching MONDO:0001590 quadriplegia skos:exactMatch NCIT:C50721 Quadriplegia semapv:UnspecifiedMatching MONDO:0001590 quadriplegia skos:exactMatch SCTID:11538006 semapv:UnspecifiedMatching MONDO:0001590 quadriplegia skos:exactMatch UMLS:C0034372 semapv:UnspecifiedMatching MONDO:0001590 quadriplegia skos:exactMatch mesh:D011782 semapv:UnspecifiedMatching MONDO:0001591 senile entropion skos:exactMatch DOID:12836 senile entropion semapv:UnspecifiedMatching MONDO:0001591 senile entropion skos:exactMatch MEDGEN:509837 semapv:UnspecifiedMatching MONDO:0001591 senile entropion skos:exactMatch SCTID:55408009 semapv:UnspecifiedMatching MONDO:0001591 senile entropion skos:exactMatch UMLS:C0155188 semapv:UnspecifiedMatching MONDO:0001592 prolapse of female genital organ skos:exactMatch DOID:1284 prolapse of female genital organ semapv:UnspecifiedMatching MONDO:0001592 prolapse of female genital organ skos:exactMatch ICD10CM:N81 Female genital prolapse semapv:UnspecifiedMatching MONDO:0001592 prolapse of female genital organ skos:exactMatch MEDGEN:510253 semapv:UnspecifiedMatching MONDO:0001592 prolapse of female genital organ skos:exactMatch SCTID:73998008 semapv:UnspecifiedMatching MONDO:0001592 prolapse of female genital organ skos:exactMatch UMLS:C0156349 semapv:UnspecifiedMatching MONDO:0001593 rectal disorder skos:exactMatch DOID:1285 rectal disease semapv:UnspecifiedMatching MONDO:0001593 rectal disorder skos:exactMatch EFO:0009685 semapv:UnspecifiedMatching MONDO:0001593 rectal disorder skos:exactMatch MEDGEN:19701 semapv:UnspecifiedMatching MONDO:0001593 rectal disorder skos:exactMatch SCTID:5964004 semapv:UnspecifiedMatching MONDO:0001593 rectal disorder skos:exactMatch UMLS:C0034882 semapv:UnspecifiedMatching MONDO:0001593 rectal disorder skos:exactMatch mesh:D012002 semapv:UnspecifiedMatching MONDO:0001594 Achilles bursitis skos:exactMatch DOID:12857 retrocalcaneal bursitis semapv:UnspecifiedMatching MONDO:0001594 Achilles bursitis skos:exactMatch MEDGEN:508442 semapv:UnspecifiedMatching MONDO:0001594 Achilles bursitis skos:exactMatch UMLS:C0149846 semapv:UnspecifiedMatching MONDO:0001594 Achilles bursitis skos:exactMatch icd11.foundation:426746156 Achilles bursitis semapv:UnspecifiedMatching MONDO:0001595 choreatic disease skos:exactMatch DOID:12859 choreatic disease semapv:UnspecifiedMatching MONDO:0001595 choreatic disease skos:exactMatch EFO:0004152 semapv:UnspecifiedMatching MONDO:0001595 choreatic disease skos:exactMatch MEDGEN:3420 semapv:UnspecifiedMatching MONDO:0001595 choreatic disease skos:exactMatch NCIT:C84633 Chorea semapv:UnspecifiedMatching MONDO:0001595 choreatic disease skos:exactMatch Orphanet:1429 Benign hereditary chorea semapv:UnspecifiedMatching MONDO:0001595 choreatic disease skos:exactMatch SCTID:230298007 semapv:UnspecifiedMatching MONDO:0001595 choreatic disease skos:exactMatch SCTID:230306001 semapv:UnspecifiedMatching MONDO:0001595 choreatic disease skos:exactMatch UMLS:C0008489 semapv:UnspecifiedMatching MONDO:0001595 choreatic disease skos:exactMatch icd11.foundation:829618737 Benign hereditary chorea semapv:UnspecifiedMatching MONDO:0001595 choreatic disease skos:exactMatch mesh:D002819 semapv:UnspecifiedMatching MONDO:0001596 hypochondriasis skos:exactMatch DOID:12883 hypochondriasis semapv:UnspecifiedMatching MONDO:0001596 hypochondriasis skos:exactMatch ICD10CM:F45.21 Hypochondriasis semapv:UnspecifiedMatching MONDO:0001596 hypochondriasis skos:exactMatch MEDGEN:9382 semapv:UnspecifiedMatching MONDO:0001596 hypochondriasis skos:exactMatch SCTID:18193002 semapv:UnspecifiedMatching MONDO:0001596 hypochondriasis skos:exactMatch UMLS:C0020604 semapv:UnspecifiedMatching MONDO:0001596 hypochondriasis skos:exactMatch icd11.foundation:675329566 Hypochondriasis semapv:UnspecifiedMatching MONDO:0001596 hypochondriasis skos:exactMatch mesh:D006998 semapv:UnspecifiedMatching MONDO:0001597 submandibular gland disorder skos:exactMatch DOID:12897 submandibular gland disease semapv:UnspecifiedMatching MONDO:0001597 submandibular gland disorder skos:exactMatch MEDGEN:52535 semapv:UnspecifiedMatching MONDO:0001597 submandibular gland disorder skos:exactMatch UMLS:C0038557 semapv:UnspecifiedMatching MONDO:0001597 submandibular gland disorder skos:exactMatch mesh:D013364 semapv:UnspecifiedMatching MONDO:0001598 benign lymphoepithelial lesion of salivary gland skos:exactMatch DOID:12899 benign lymphoepithelial lesion of salivary gland semapv:UnspecifiedMatching MONDO:0001598 benign lymphoepithelial lesion of salivary gland skos:exactMatch MEDGEN:120595 semapv:UnspecifiedMatching MONDO:0001598 benign lymphoepithelial lesion of salivary gland skos:exactMatch NCIT:C3949 Benign Lymphoepithelial Lesion of the Salivary Gland semapv:UnspecifiedMatching MONDO:0001598 benign lymphoepithelial lesion of salivary gland skos:exactMatch SCTID:45517002 semapv:UnspecifiedMatching MONDO:0001598 benign lymphoepithelial lesion of salivary gland skos:exactMatch UMLS:C0266995 semapv:UnspecifiedMatching MONDO:0001598 benign lymphoepithelial lesion of salivary gland skos:exactMatch icd11.foundation:1330363110 Benign lymphoepithelial lesion of salivary gland semapv:UnspecifiedMatching MONDO:0001600 mucocele of salivary gland skos:exactMatch DOID:12904 mucocele of salivary gland semapv:UnspecifiedMatching MONDO:0001600 mucocele of salivary gland skos:exactMatch ICD10CM:K11.6 Mucocele of salivary gland semapv:UnspecifiedMatching MONDO:0001600 mucocele of salivary gland skos:exactMatch MEDGEN:10117 semapv:UnspecifiedMatching MONDO:0001600 mucocele of salivary gland skos:exactMatch SCTID:69825009 semapv:UnspecifiedMatching MONDO:0001600 mucocele of salivary gland skos:exactMatch UMLS:C0026686 semapv:UnspecifiedMatching MONDO:0001600 mucocele of salivary gland skos:exactMatch icd11.foundation:48444833 Mucocele of salivary gland semapv:UnspecifiedMatching MONDO:0001600 mucocele of salivary gland skos:exactMatch mesh:D011900 semapv:UnspecifiedMatching MONDO:0001601 Plasmodium ovale malaria skos:exactMatch DOID:12919 Plasmodium ovale malaria semapv:UnspecifiedMatching MONDO:0001601 Plasmodium ovale malaria skos:exactMatch ICD10CM:B53.0 Plasmodium ovale malaria semapv:UnspecifiedMatching MONDO:0001601 Plasmodium ovale malaria skos:exactMatch MEDGEN:508870 semapv:UnspecifiedMatching MONDO:0001601 Plasmodium ovale malaria skos:exactMatch SCTID:19341001 semapv:UnspecifiedMatching MONDO:0001601 Plasmodium ovale malaria skos:exactMatch UMLS:C0152072 semapv:UnspecifiedMatching MONDO:0001602 labia minora carcinoma skos:exactMatch DOID:1293 labia minora carcinoma semapv:UnspecifiedMatching MONDO:0001602 labia minora carcinoma skos:exactMatch MEDGEN:233605 semapv:UnspecifiedMatching MONDO:0001602 labia minora carcinoma skos:exactMatch NCIT:C9364 Labia Minora Carcinoma semapv:UnspecifiedMatching MONDO:0001602 labia minora carcinoma skos:exactMatch UMLS:C1334357 semapv:UnspecifiedMatching MONDO:0001603 paralytic lagophthalmos skos:exactMatch DOID:12958 paralytic lagophthalmos semapv:UnspecifiedMatching MONDO:0001603 paralytic lagophthalmos skos:exactMatch ICD10CM:H02.23 Paralytic lagophthalmos semapv:UnspecifiedMatching MONDO:0001603 paralytic lagophthalmos skos:exactMatch MEDGEN:509844 semapv:UnspecifiedMatching MONDO:0001603 paralytic lagophthalmos skos:exactMatch UMLS:C0155197 semapv:UnspecifiedMatching MONDO:0001603 paralytic lagophthalmos skos:exactMatch icd11.foundation:2122617367 Paralytic lagophthalmos semapv:UnspecifiedMatching MONDO:0001604 lagophthalmos skos:exactMatch DOID:12959 lagophthalmos semapv:UnspecifiedMatching MONDO:0001604 lagophthalmos skos:exactMatch ICD10CM:H02.2 Lagophthalmos semapv:UnspecifiedMatching MONDO:0001604 lagophthalmos skos:exactMatch MEDGEN:57517 semapv:UnspecifiedMatching MONDO:0001604 lagophthalmos skos:exactMatch SCTID:60735000 semapv:UnspecifiedMatching MONDO:0001604 lagophthalmos skos:exactMatch UMLS:C0152226 semapv:UnspecifiedMatching MONDO:0001604 lagophthalmos skos:exactMatch icd11.foundation:1200365909 Lagophthalmos semapv:UnspecifiedMatching MONDO:0001606 central nervous system leukemia skos:exactMatch DOID:12969 central nervous system leukemia semapv:UnspecifiedMatching MONDO:0001606 central nervous system leukemia skos:exactMatch MEDGEN:234102 semapv:UnspecifiedMatching MONDO:0001606 central nervous system leukemia skos:exactMatch NCIT:C5440 Central Nervous System Leukemia semapv:UnspecifiedMatching MONDO:0001606 central nervous system leukemia skos:exactMatch UMLS:C1332884 semapv:UnspecifiedMatching MONDO:0001607 intrapelvic lymph node leukemic reticuloendotheliosis skos:exactMatch DOID:12972 intrapelvic lymph node leukemic reticuloendotheliosis semapv:UnspecifiedMatching MONDO:0001607 intrapelvic lymph node leukemic reticuloendotheliosis skos:exactMatch MEDGEN:509467 semapv:UnspecifiedMatching MONDO:0001607 intrapelvic lymph node leukemic reticuloendotheliosis skos:exactMatch SCTID:93145002 semapv:UnspecifiedMatching MONDO:0001607 intrapelvic lymph node leukemic reticuloendotheliosis skos:exactMatch UMLS:C0153831 semapv:UnspecifiedMatching MONDO:0001608 vagus nerve neoplasm skos:exactMatch DOID:12984 vagus nerve neoplasm semapv:UnspecifiedMatching MONDO:0001608 vagus nerve neoplasm skos:exactMatch MEDGEN:224735 semapv:UnspecifiedMatching MONDO:0001608 vagus nerve neoplasm skos:exactMatch NCIT:C5831 Vagus Nerve Neoplasm semapv:UnspecifiedMatching MONDO:0001608 vagus nerve neoplasm skos:exactMatch SCTID:126976007 semapv:UnspecifiedMatching MONDO:0001608 vagus nerve neoplasm skos:exactMatch UMLS:C1263901 semapv:UnspecifiedMatching MONDO:0001609 agranulocytosis skos:exactMatch DOID:12987 agranulocytosis semapv:UnspecifiedMatching MONDO:0001609 agranulocytosis skos:exactMatch ICD10CM:D70 Neutropenia semapv:UnspecifiedMatching MONDO:0001609 agranulocytosis skos:exactMatch ICD10WHO:D70 Agranulocytosis semapv:UnspecifiedMatching MONDO:0001609 agranulocytosis skos:exactMatch MEDGEN:7932 semapv:UnspecifiedMatching MONDO:0001609 agranulocytosis skos:exactMatch NCIT:C2863 Granulocytopenia semapv:UnspecifiedMatching MONDO:0001609 agranulocytosis skos:exactMatch SCTID:417672002 semapv:UnspecifiedMatching MONDO:0001609 agranulocytosis skos:exactMatch UMLS:C0001824 semapv:UnspecifiedMatching MONDO:0001609 agranulocytosis skos:exactMatch icd11.foundation:1913706366 Agranulocytosis semapv:UnspecifiedMatching MONDO:0001609 agranulocytosis skos:exactMatch mesh:D000380 semapv:UnspecifiedMatching MONDO:0001610 acute dacryocystitis skos:exactMatch DOID:12996 acute dacryocystitis semapv:UnspecifiedMatching MONDO:0001610 acute dacryocystitis skos:exactMatch ICD10CM:H04.32 Acute dacryocystitis semapv:UnspecifiedMatching MONDO:0001610 acute dacryocystitis skos:exactMatch MEDGEN:509863 semapv:UnspecifiedMatching MONDO:0001610 acute dacryocystitis skos:exactMatch SCTID:25470000 semapv:UnspecifiedMatching MONDO:0001610 acute dacryocystitis skos:exactMatch UMLS:C0155237 semapv:UnspecifiedMatching MONDO:0001610 acute dacryocystitis skos:exactMatch icd11.foundation:743890238 Acute dacryocystitis semapv:UnspecifiedMatching MONDO:0001611 phlegmonous dacryocystitis skos:exactMatch DOID:12997 Phlegmonous dacryocystitis semapv:UnspecifiedMatching MONDO:0001611 phlegmonous dacryocystitis skos:exactMatch ICD10CM:H04.31 Phlegmonous dacryocystitis semapv:UnspecifiedMatching MONDO:0001611 phlegmonous dacryocystitis skos:exactMatch MEDGEN:509864 semapv:UnspecifiedMatching MONDO:0001611 phlegmonous dacryocystitis skos:exactMatch SCTID:64324003 semapv:UnspecifiedMatching MONDO:0001611 phlegmonous dacryocystitis skos:exactMatch UMLS:C0155238 semapv:UnspecifiedMatching MONDO:0001612 carotid stenosis skos:exactMatch DOID:13001 carotid stenosis semapv:UnspecifiedMatching MONDO:0001612 carotid stenosis skos:exactMatch MEDGEN:785 semapv:UnspecifiedMatching MONDO:0001612 carotid stenosis skos:exactMatch NCIT:C95804 Carotid Artery Stenosis semapv:UnspecifiedMatching MONDO:0001612 carotid stenosis skos:exactMatch SCTID:64586002 semapv:UnspecifiedMatching MONDO:0001612 carotid stenosis skos:exactMatch UMLS:C0007282 semapv:UnspecifiedMatching MONDO:0001612 carotid stenosis skos:exactMatch mesh:D016893 semapv:UnspecifiedMatching MONDO:0001613 vertebrobasilar insufficiency skos:exactMatch DOID:13003 vertebrobasilar insufficiency semapv:UnspecifiedMatching MONDO:0001613 vertebrobasilar insufficiency skos:exactMatch EFO:1001449 semapv:UnspecifiedMatching MONDO:0001613 vertebrobasilar insufficiency skos:exactMatch MEDGEN:12075 semapv:UnspecifiedMatching MONDO:0001613 vertebrobasilar insufficiency skos:exactMatch SCTID:195199008 semapv:UnspecifiedMatching MONDO:0001613 vertebrobasilar insufficiency skos:exactMatch UMLS:C0042568 semapv:UnspecifiedMatching MONDO:0001613 vertebrobasilar insufficiency skos:exactMatch icd11.foundation:1570524591 Vertebrobasilar artery syndrome semapv:UnspecifiedMatching MONDO:0001613 vertebrobasilar insufficiency skos:exactMatch mesh:D014715 semapv:UnspecifiedMatching MONDO:0001614 intra-abdominal lymph node mast cell malignancy skos:exactMatch DOID:13005 intra-abdominal lymph node mast cell malignancy semapv:UnspecifiedMatching MONDO:0001614 intra-abdominal lymph node mast cell malignancy skos:exactMatch MEDGEN:509471 semapv:UnspecifiedMatching MONDO:0001614 intra-abdominal lymph node mast cell malignancy skos:exactMatch SCTID:188664008 semapv:UnspecifiedMatching MONDO:0001614 intra-abdominal lymph node mast cell malignancy skos:exactMatch UMLS:C0153844 semapv:UnspecifiedMatching MONDO:0001615 epidemic keratoconjunctivitis skos:exactMatch DOID:13014 shipyard eye semapv:UnspecifiedMatching MONDO:0001615 epidemic keratoconjunctivitis skos:exactMatch ICD10CM:B30.0 Keratoconjunctivitis due to adenovirus semapv:UnspecifiedMatching MONDO:0001615 epidemic keratoconjunctivitis skos:exactMatch MEDGEN:4500 semapv:UnspecifiedMatching MONDO:0001615 epidemic keratoconjunctivitis skos:exactMatch NCIT:C34590 Epidemic Keratoconjunctivitis semapv:UnspecifiedMatching MONDO:0001615 epidemic keratoconjunctivitis skos:exactMatch SCTID:60548004 semapv:UnspecifiedMatching MONDO:0001615 epidemic keratoconjunctivitis skos:exactMatch UMLS:C0014493 semapv:UnspecifiedMatching MONDO:0001615 epidemic keratoconjunctivitis skos:exactMatch icd11.foundation:972253332 Epidemic keratoconjunctivitis semapv:UnspecifiedMatching MONDO:0001616 lobomycosis skos:exactMatch DOID:13026 lobomycosis semapv:UnspecifiedMatching MONDO:0001616 lobomycosis skos:exactMatch EFO:1001805 semapv:UnspecifiedMatching MONDO:0001616 lobomycosis skos:exactMatch ICD10CM:B48.0 Lobomycosis semapv:UnspecifiedMatching MONDO:0001616 lobomycosis skos:exactMatch MEDGEN:452127 semapv:UnspecifiedMatching MONDO:0001616 lobomycosis skos:exactMatch SCTID:47306003 semapv:UnspecifiedMatching MONDO:0001616 lobomycosis skos:exactMatch UMLS:C0152066 semapv:UnspecifiedMatching MONDO:0001616 lobomycosis skos:exactMatch icd11.foundation:566562143 Lobomycosis semapv:UnspecifiedMatching MONDO:0001616 lobomycosis skos:exactMatch mesh:D060368 semapv:UnspecifiedMatching MONDO:0001617 transient global amnesia skos:exactMatch DOID:13027 transient global amnesia semapv:UnspecifiedMatching MONDO:0001617 transient global amnesia skos:exactMatch ICD10CM:G45.4 Transient global amnesia semapv:UnspecifiedMatching MONDO:0001617 transient global amnesia skos:exactMatch MEDGEN:83275 semapv:UnspecifiedMatching MONDO:0001617 transient global amnesia skos:exactMatch NCIT:C85198 Transient Global Amnesia semapv:UnspecifiedMatching MONDO:0001617 transient global amnesia skos:exactMatch UMLS:C0338591 semapv:UnspecifiedMatching MONDO:0001617 transient global amnesia skos:exactMatch icd11.foundation:1524600518 Transient global amnesia semapv:UnspecifiedMatching MONDO:0001617 transient global amnesia skos:exactMatch mesh:D020236 semapv:UnspecifiedMatching MONDO:0001618 balanoposthitis skos:exactMatch DOID:13031 balanoposthitis semapv:UnspecifiedMatching MONDO:0001618 balanoposthitis skos:exactMatch ICD10CM:N47.6 Balanoposthitis semapv:UnspecifiedMatching MONDO:0001618 balanoposthitis skos:exactMatch MEDGEN:507475 semapv:UnspecifiedMatching MONDO:0001618 balanoposthitis skos:exactMatch SCTID:46090001 semapv:UnspecifiedMatching MONDO:0001618 balanoposthitis skos:exactMatch UMLS:C0004691 semapv:UnspecifiedMatching MONDO:0001618 balanoposthitis skos:exactMatch icd11.foundation:1742248014 Balanitis or balanoposthitis semapv:UnspecifiedMatching MONDO:0001620 louse-borne relapsing fever skos:exactMatch DOID:13035 louse-borne relapsing fever semapv:UnspecifiedMatching MONDO:0001620 louse-borne relapsing fever skos:exactMatch ICD10CM:A68.0 Louse-borne relapsing fever semapv:UnspecifiedMatching MONDO:0001620 louse-borne relapsing fever skos:exactMatch MEDGEN:508863 semapv:UnspecifiedMatching MONDO:0001620 louse-borne relapsing fever skos:exactMatch NCIT:C128426 Louse-Borne Relapsing Fever semapv:UnspecifiedMatching MONDO:0001620 louse-borne relapsing fever skos:exactMatch SCTID:14683004 semapv:UnspecifiedMatching MONDO:0001620 louse-borne relapsing fever skos:exactMatch UMLS:C0152061 semapv:UnspecifiedMatching MONDO:0001620 louse-borne relapsing fever skos:exactMatch icd11.foundation:1379934125 Louse-borne relapsing fever semapv:UnspecifiedMatching MONDO:0001621 tick-borne relapsing fever skos:exactMatch DOID:13036 tick-borne relapsing fever semapv:UnspecifiedMatching MONDO:0001621 tick-borne relapsing fever skos:exactMatch ICD10CM:A68.1 Tick-borne relapsing fever semapv:UnspecifiedMatching MONDO:0001621 tick-borne relapsing fever skos:exactMatch MEDGEN:20515 semapv:UnspecifiedMatching MONDO:0001621 tick-borne relapsing fever skos:exactMatch NCIT:C34976 Tick-Borne Relapsing Fever semapv:UnspecifiedMatching MONDO:0001621 tick-borne relapsing fever skos:exactMatch SCTID:10301003 semapv:UnspecifiedMatching MONDO:0001621 tick-borne relapsing fever skos:exactMatch UMLS:C0035022 semapv:UnspecifiedMatching MONDO:0001621 tick-borne relapsing fever skos:exactMatch icd11.foundation:923521593 Tick-borne relapsing fever semapv:UnspecifiedMatching MONDO:0001622 mechanical lagophthalmos skos:exactMatch DOID:13037 mechanical lagophthalmos semapv:UnspecifiedMatching MONDO:0001622 mechanical lagophthalmos skos:exactMatch ICD10CM:H02.22 Mechanical lagophthalmos semapv:UnspecifiedMatching MONDO:0001622 mechanical lagophthalmos skos:exactMatch MEDGEN:509845 semapv:UnspecifiedMatching MONDO:0001622 mechanical lagophthalmos skos:exactMatch SCTID:21783006 semapv:UnspecifiedMatching MONDO:0001622 mechanical lagophthalmos skos:exactMatch UMLS:C0155198 semapv:UnspecifiedMatching MONDO:0001622 mechanical lagophthalmos skos:exactMatch icd11.foundation:466575235 Mechanical lagophthalmos semapv:UnspecifiedMatching MONDO:0001623 cicatricial lagophthalmos skos:exactMatch DOID:13038 cicatricial lagophthalmos semapv:UnspecifiedMatching MONDO:0001623 cicatricial lagophthalmos skos:exactMatch ICD10CM:H02.21 Cicatricial lagophthalmos semapv:UnspecifiedMatching MONDO:0001623 cicatricial lagophthalmos skos:exactMatch MEDGEN:509846 semapv:UnspecifiedMatching MONDO:0001623 cicatricial lagophthalmos skos:exactMatch UMLS:C0155199 semapv:UnspecifiedMatching MONDO:0001623 cicatricial lagophthalmos skos:exactMatch icd11.foundation:1868697470 Cicatricial lagophthalmos semapv:UnspecifiedMatching MONDO:0001624 acute sphenoidal sinusitis skos:exactMatch DOID:13046 acute sphenoidal sinusitis semapv:UnspecifiedMatching MONDO:0001624 acute sphenoidal sinusitis skos:exactMatch ICD10CM:J01.3 Acute sphenoidal sinusitis semapv:UnspecifiedMatching MONDO:0001624 acute sphenoidal sinusitis skos:exactMatch MEDGEN:510089 semapv:UnspecifiedMatching MONDO:0001624 acute sphenoidal sinusitis skos:exactMatch SCTID:77919000 semapv:UnspecifiedMatching MONDO:0001624 acute sphenoidal sinusitis skos:exactMatch UMLS:C0155807 semapv:UnspecifiedMatching MONDO:0001624 acute sphenoidal sinusitis skos:exactMatch icd11.foundation:348880565 Acute sphenoidal sinusitis semapv:UnspecifiedMatching MONDO:0001625 corpus luteum cyst skos:exactMatch DOID:13050 corpus luteum cyst semapv:UnspecifiedMatching MONDO:0001625 corpus luteum cyst skos:exactMatch ICD10CM:N83.1 Corpus luteum cyst semapv:UnspecifiedMatching MONDO:0001625 corpus luteum cyst skos:exactMatch MEDGEN:1142 semapv:UnspecifiedMatching MONDO:0001625 corpus luteum cyst skos:exactMatch SCTID:386762009 semapv:UnspecifiedMatching MONDO:0001625 corpus luteum cyst skos:exactMatch UMLS:C0010093 semapv:UnspecifiedMatching MONDO:0001625 corpus luteum cyst skos:exactMatch icd11.foundation:753201214 Corpus luteum cyst semapv:UnspecifiedMatching MONDO:0001626 traumatic glaucoma skos:exactMatch DOID:13060 traumatic glaucoma semapv:UnspecifiedMatching MONDO:0001626 traumatic glaucoma skos:exactMatch MEDGEN:573251 semapv:UnspecifiedMatching MONDO:0001626 traumatic glaucoma skos:exactMatch SCTID:68241007 semapv:UnspecifiedMatching MONDO:0001626 traumatic glaucoma skos:exactMatch UMLS:C0339594 semapv:UnspecifiedMatching MONDO:0001627 dementia skos:exactMatch DOID:1307 dementia semapv:UnspecifiedMatching MONDO:0001627 dementia skos:exactMatch ICD10CM:F02 Dementia in other diseases classified elsewhere semapv:UnspecifiedMatching MONDO:0001627 dementia skos:exactMatch MEDGEN:99229 semapv:UnspecifiedMatching MONDO:0001627 dementia skos:exactMatch NCIT:C4786 Dementia semapv:UnspecifiedMatching MONDO:0001627 dementia skos:exactMatch SCTID:52448006 semapv:UnspecifiedMatching MONDO:0001627 dementia skos:exactMatch UMLS:C0497327 semapv:UnspecifiedMatching MONDO:0001627 dementia skos:exactMatch icd11.foundation:1468768235 Dementia due to diseases classified elsewhere semapv:UnspecifiedMatching MONDO:0001627 dementia skos:exactMatch icd11.foundation:546689346 Dementia semapv:UnspecifiedMatching MONDO:0001627 dementia skos:exactMatch mesh:D003704 semapv:UnspecifiedMatching MONDO:0001628 tinea unguium skos:exactMatch DOID:13074 tinea unguium semapv:UnspecifiedMatching MONDO:0001628 tinea unguium skos:exactMatch ICD10CM:B35.1 Tinea unguium semapv:UnspecifiedMatching MONDO:0001628 tinea unguium skos:exactMatch MEDGEN:11825 semapv:UnspecifiedMatching MONDO:0001628 tinea unguium skos:exactMatch NCIT:C112214 Onychomycosis semapv:UnspecifiedMatching MONDO:0001628 tinea unguium skos:exactMatch UMLS:C0040261 semapv:UnspecifiedMatching MONDO:0001628 tinea unguium skos:exactMatch mesh:D014009 semapv:UnspecifiedMatching MONDO:0001629 Jaccoud syndrome skos:exactMatch DOID:13080 Jaccoud's syndrome semapv:UnspecifiedMatching MONDO:0001629 Jaccoud syndrome skos:exactMatch MEDGEN:508877 semapv:UnspecifiedMatching MONDO:0001629 Jaccoud syndrome skos:exactMatch SCTID:84801008 semapv:UnspecifiedMatching MONDO:0001629 Jaccoud syndrome skos:exactMatch UMLS:C0152084 semapv:UnspecifiedMatching MONDO:0001630 branch retinal artery occlusion skos:exactMatch DOID:13094 branch retinal artery occlusion semapv:UnspecifiedMatching MONDO:0001630 branch retinal artery occlusion skos:exactMatch MEDGEN:14217 semapv:UnspecifiedMatching MONDO:0001630 branch retinal artery occlusion skos:exactMatch NCIT:C34436 Retinal Arterial Branch Occlusion semapv:UnspecifiedMatching MONDO:0001630 branch retinal artery occlusion skos:exactMatch SCTID:50821009 semapv:UnspecifiedMatching MONDO:0001630 branch retinal artery occlusion skos:exactMatch UMLS:C0006123 semapv:UnspecifiedMatching MONDO:0001631 vertebral artery insufficiency skos:exactMatch DOID:13095 vertebral artery insufficiency semapv:UnspecifiedMatching MONDO:0001631 vertebral artery insufficiency skos:exactMatch MEDGEN:22638 semapv:UnspecifiedMatching MONDO:0001631 vertebral artery insufficiency skos:exactMatch NCIT:C35123 Vertebral Artery Syndrome semapv:UnspecifiedMatching MONDO:0001631 vertebral artery insufficiency skos:exactMatch SCTID:34781003 semapv:UnspecifiedMatching MONDO:0001631 vertebral artery insufficiency skos:exactMatch UMLS:C0042560 semapv:UnspecifiedMatching MONDO:0001631 vertebral artery insufficiency skos:exactMatch icd11.foundation:1541569386 Vertebral artery syndrome semapv:UnspecifiedMatching MONDO:0001632 intracranial arteriosclerosis skos:exactMatch DOID:13097 intracranial arteriosclerosis semapv:UnspecifiedMatching MONDO:0001632 intracranial arteriosclerosis skos:exactMatch MEDGEN:3319 semapv:UnspecifiedMatching MONDO:0001632 intracranial arteriosclerosis skos:exactMatch UMLS:C0007771 semapv:UnspecifiedMatching MONDO:0001632 intracranial arteriosclerosis skos:exactMatch mesh:D002537 semapv:UnspecifiedMatching MONDO:0001633 central retinal artery occlusion skos:exactMatch DOID:13098 central retinal artery occlusion semapv:UnspecifiedMatching MONDO:0001633 central retinal artery occlusion skos:exactMatch ICD10CM:H34.1 Central retinal artery occlusion semapv:UnspecifiedMatching MONDO:0001633 central retinal artery occlusion skos:exactMatch MEDGEN:40177 semapv:UnspecifiedMatching MONDO:0001633 central retinal artery occlusion skos:exactMatch NCIT:C34456 Central Retinal Artery Occlusion semapv:UnspecifiedMatching MONDO:0001633 central retinal artery occlusion skos:exactMatch Orphanet:648684 Central retinal artery occlusion semapv:UnspecifiedMatching MONDO:0001633 central retinal artery occlusion skos:exactMatch SCTID:38742007 semapv:UnspecifiedMatching MONDO:0001633 central retinal artery occlusion skos:exactMatch UMLS:C0007688 semapv:UnspecifiedMatching MONDO:0001633 central retinal artery occlusion skos:exactMatch icd11.foundation:613330234 Central retinal artery occlusion semapv:UnspecifiedMatching MONDO:0001634 bladder leiomyoma skos:exactMatch DOID:13109 bladder leiomyoma semapv:UnspecifiedMatching MONDO:0001634 bladder leiomyoma skos:exactMatch MEDGEN:272371 semapv:UnspecifiedMatching MONDO:0001634 bladder leiomyoma skos:exactMatch NCIT:C6178 Bladder Leiomyoma semapv:UnspecifiedMatching MONDO:0001634 bladder leiomyoma skos:exactMatch UMLS:C1332560 semapv:UnspecifiedMatching MONDO:0001635 bladder squamous papilloma skos:exactMatch DOID:13110 bladder squamous papilloma semapv:UnspecifiedMatching MONDO:0001635 bladder squamous papilloma skos:exactMatch MEDGEN:267742 semapv:UnspecifiedMatching MONDO:0001635 bladder squamous papilloma skos:exactMatch NCIT:C39834 Bladder Squamous Papilloma semapv:UnspecifiedMatching MONDO:0001635 bladder squamous papilloma skos:exactMatch UMLS:C1511199 semapv:UnspecifiedMatching MONDO:0001636 mechanical entropion skos:exactMatch DOID:13112 mechanical entropion semapv:UnspecifiedMatching MONDO:0001636 mechanical entropion skos:exactMatch MEDGEN:509838 semapv:UnspecifiedMatching MONDO:0001636 mechanical entropion skos:exactMatch SCTID:38683003 semapv:UnspecifiedMatching MONDO:0001636 mechanical entropion skos:exactMatch UMLS:C0155189 semapv:UnspecifiedMatching MONDO:0001637 cicatricial entropion skos:exactMatch DOID:13113 cicatricial entropion semapv:UnspecifiedMatching MONDO:0001637 cicatricial entropion skos:exactMatch MEDGEN:509840 semapv:UnspecifiedMatching MONDO:0001637 cicatricial entropion skos:exactMatch SCTID:67383002 semapv:UnspecifiedMatching MONDO:0001637 cicatricial entropion skos:exactMatch UMLS:C0155191 semapv:UnspecifiedMatching MONDO:0001638 protein-deficiency anemia skos:exactMatch DOID:13120 protein-deficiency anemia semapv:UnspecifiedMatching MONDO:0001638 protein-deficiency anemia skos:exactMatch ICD10CM:D53.0 Protein deficiency anemia semapv:UnspecifiedMatching MONDO:0001638 protein-deficiency anemia skos:exactMatch MEDGEN:509568 semapv:UnspecifiedMatching MONDO:0001638 protein-deficiency anemia skos:exactMatch SCTID:191156009 semapv:UnspecifiedMatching MONDO:0001638 protein-deficiency anemia skos:exactMatch UMLS:C0154290 semapv:UnspecifiedMatching MONDO:0001639 deficiency anemia skos:exactMatch MEDGEN:508256 semapv:UnspecifiedMatching MONDO:0001639 deficiency anemia skos:exactMatch SCTID:267513007 semapv:UnspecifiedMatching MONDO:0001639 deficiency anemia skos:exactMatch UMLS:C0041782 semapv:UnspecifiedMatching MONDO:0001640 gonococcal spondylitis skos:exactMatch DOID:13127 gonococcal spondylitis semapv:UnspecifiedMatching MONDO:0001640 gonococcal spondylitis skos:exactMatch MEDGEN:509212 semapv:UnspecifiedMatching MONDO:0001640 gonococcal spondylitis skos:exactMatch SCTID:53664003 semapv:UnspecifiedMatching MONDO:0001640 gonococcal spondylitis skos:exactMatch UMLS:C0153219 semapv:UnspecifiedMatching MONDO:0001640 gonococcal spondylitis skos:exactMatch icd11.foundation:1439203351 Gonococcal spondylitis semapv:UnspecifiedMatching MONDO:0001641 severe pre-eclampsia skos:exactMatch DOID:13129 severe pre-eclampsia semapv:UnspecifiedMatching MONDO:0001641 severe pre-eclampsia skos:exactMatch ICD10CM:O14.1 Severe pre-eclampsia semapv:UnspecifiedMatching MONDO:0001641 severe pre-eclampsia skos:exactMatch MEDGEN:574734 semapv:UnspecifiedMatching MONDO:0001641 severe pre-eclampsia skos:exactMatch NCIT:C112843 Severe Preeclampsia semapv:UnspecifiedMatching MONDO:0001641 severe pre-eclampsia skos:exactMatch UMLS:C0341950 semapv:UnspecifiedMatching MONDO:0001641 severe pre-eclampsia skos:exactMatch icd11.foundation:479404771 Severe pre-eclampsia semapv:UnspecifiedMatching MONDO:0001642 hordeolum externum skos:exactMatch DOID:13134 hordeolum externum semapv:UnspecifiedMatching MONDO:0001642 hordeolum externum skos:exactMatch ICD10CM:H00.01 Hordeolum externum semapv:UnspecifiedMatching MONDO:0001642 hordeolum externum skos:exactMatch MEDGEN:5613 semapv:UnspecifiedMatching MONDO:0001642 hordeolum externum skos:exactMatch SCTID:1489008 semapv:UnspecifiedMatching MONDO:0001642 hordeolum externum skos:exactMatch UMLS:C0019919 semapv:UnspecifiedMatching MONDO:0001642 hordeolum externum skos:exactMatch icd11.foundation:522397394 Hordeolum externum semapv:UnspecifiedMatching MONDO:0001643 exophthalmic ophthalmoplegia skos:exactMatch DOID:13135 exophthalmic ophthalmoplegia semapv:UnspecifiedMatching MONDO:0001643 exophthalmic ophthalmoplegia skos:exactMatch MEDGEN:508900 semapv:UnspecifiedMatching MONDO:0001643 exophthalmic ophthalmoplegia skos:exactMatch SCTID:69763009 semapv:UnspecifiedMatching MONDO:0001643 exophthalmic ophthalmoplegia skos:exactMatch UMLS:C0152135 semapv:UnspecifiedMatching MONDO:0001644 acute proliferative glomerulonephritis skos:exactMatch DOID:13138 acute proliferative glomerulonephritis semapv:UnspecifiedMatching MONDO:0001644 acute proliferative glomerulonephritis skos:exactMatch MEDGEN:574582 semapv:UnspecifiedMatching MONDO:0001644 acute proliferative glomerulonephritis skos:exactMatch NCIT:C35443 Post-Streptococcal Glomerulonephritis semapv:UnspecifiedMatching MONDO:0001644 acute proliferative glomerulonephritis skos:exactMatch SCTID:197579006 semapv:UnspecifiedMatching MONDO:0001644 acute proliferative glomerulonephritis skos:exactMatch UMLS:C0341692 semapv:UnspecifiedMatching MONDO:0001645 crescentic glomerulonephritis skos:exactMatch DOID:13139 crescentic glomerulonephritis semapv:UnspecifiedMatching MONDO:0001645 crescentic glomerulonephritis skos:exactMatch MEDGEN:96040 semapv:UnspecifiedMatching MONDO:0001645 crescentic glomerulonephritis skos:exactMatch NCIT:C35444 Crescentic Glomerulonephritis semapv:UnspecifiedMatching MONDO:0001645 crescentic glomerulonephritis skos:exactMatch SCTID:236398000 semapv:UnspecifiedMatching MONDO:0001645 crescentic glomerulonephritis skos:exactMatch UMLS:C0403416 semapv:UnspecifiedMatching MONDO:0001646 benign secondary hypertension skos:exactMatch DOID:13143 benign secondary hypertension semapv:UnspecifiedMatching MONDO:0001646 benign secondary hypertension skos:exactMatch MEDGEN:57610 semapv:UnspecifiedMatching MONDO:0001646 benign secondary hypertension skos:exactMatch SCTID:194785008 semapv:UnspecifiedMatching MONDO:0001646 benign secondary hypertension skos:exactMatch UMLS:C0155620 semapv:UnspecifiedMatching MONDO:0001647 benign renovascular hypertension skos:exactMatch DOID:13145 benign renovascular hypertension semapv:UnspecifiedMatching MONDO:0001647 benign renovascular hypertension skos:exactMatch MEDGEN:1843496 semapv:UnspecifiedMatching MONDO:0001647 benign renovascular hypertension skos:exactMatch UMLS:C0155621 semapv:UnspecifiedMatching MONDO:0001647 benign renovascular hypertension skos:exactMatch icd11.foundation:1396824741 Benign renovascular hypertension semapv:UnspecifiedMatching MONDO:0001648 esophageal candidiasis skos:exactMatch DOID:13146 esophageal candidiasis semapv:UnspecifiedMatching MONDO:0001648 esophageal candidiasis skos:exactMatch ICD10CM:B37.81 Candidal esophagitis semapv:UnspecifiedMatching MONDO:0001648 esophageal candidiasis skos:exactMatch MEDGEN:66784 semapv:UnspecifiedMatching MONDO:0001648 esophageal candidiasis skos:exactMatch NCIT:C27027 Candida Esophagitis semapv:UnspecifiedMatching MONDO:0001648 esophageal candidiasis skos:exactMatch SCTID:20639004 semapv:UnspecifiedMatching MONDO:0001648 esophageal candidiasis skos:exactMatch UMLS:C0239295 semapv:UnspecifiedMatching MONDO:0001649 fungal esophagitis skos:exactMatch DOID:13147 fungal esophagitis semapv:UnspecifiedMatching MONDO:0001649 fungal esophagitis skos:exactMatch MEDGEN:90960 semapv:UnspecifiedMatching MONDO:0001649 fungal esophagitis skos:exactMatch NCIT:C27107 Fungal Esophagitis semapv:UnspecifiedMatching MONDO:0001649 fungal esophagitis skos:exactMatch SCTID:235602008 semapv:UnspecifiedMatching MONDO:0001649 fungal esophagitis skos:exactMatch UMLS:C0341109 semapv:UnspecifiedMatching MONDO:0001650 acute cystitis skos:exactMatch DOID:13148 acute cystitis semapv:UnspecifiedMatching MONDO:0001650 acute cystitis skos:exactMatch ICD10CM:N30.0 Acute cystitis semapv:UnspecifiedMatching MONDO:0001650 acute cystitis skos:exactMatch MEDGEN:57429 semapv:UnspecifiedMatching MONDO:0001650 acute cystitis skos:exactMatch NCIT:C26934 Acute Cystitis semapv:UnspecifiedMatching MONDO:0001650 acute cystitis skos:exactMatch SCTID:68226007 semapv:UnspecifiedMatching MONDO:0001650 acute cystitis skos:exactMatch UMLS:C0149523 semapv:UnspecifiedMatching MONDO:0001651 scrotum squamous cell carcinoma skos:exactMatch DOID:13159 scrotum squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0001651 scrotum squamous cell carcinoma skos:exactMatch MEDGEN:138101 semapv:UnspecifiedMatching MONDO:0001651 scrotum squamous cell carcinoma skos:exactMatch NCIT:C4643 Scrotal Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0001651 scrotum squamous cell carcinoma skos:exactMatch SCTID:276860003 semapv:UnspecifiedMatching MONDO:0001651 scrotum squamous cell carcinoma skos:exactMatch UMLS:C0349551 semapv:UnspecifiedMatching MONDO:0001652 scrotum melanoma skos:exactMatch DOID:13160 scrotum melanoma semapv:UnspecifiedMatching MONDO:0001652 scrotum melanoma skos:exactMatch MEDGEN:233100 semapv:UnspecifiedMatching MONDO:0001652 scrotum melanoma skos:exactMatch NCIT:C7361 Scrotal Melanoma semapv:UnspecifiedMatching MONDO:0001652 scrotum melanoma skos:exactMatch UMLS:C1331544 semapv:UnspecifiedMatching MONDO:0001653 prepuce cancer skos:exactMatch DOID:13168 prepuce cancer semapv:UnspecifiedMatching MONDO:0001653 prepuce cancer skos:exactMatch ICD10CM:C60.0 Malignant neoplasm of prepuce semapv:UnspecifiedMatching MONDO:0001653 prepuce cancer skos:exactMatch MEDGEN:509336 semapv:UnspecifiedMatching MONDO:0001653 prepuce cancer skos:exactMatch SCTID:363450006 semapv:UnspecifiedMatching MONDO:0001653 prepuce cancer skos:exactMatch UMLS:C0153598 semapv:UnspecifiedMatching MONDO:0001653 prepuce cancer skos:exactMatch icd11.foundation:272011035 Malignant neoplasm of prepuce semapv:UnspecifiedMatching MONDO:0001654 spermatic cord cancer skos:exactMatch DOID:13169 spermatic cord cancer semapv:UnspecifiedMatching MONDO:0001654 spermatic cord cancer skos:exactMatch ICD10CM:C63.1 Malignant neoplasm of spermatic cord semapv:UnspecifiedMatching MONDO:0001654 spermatic cord cancer skos:exactMatch MEDGEN:102278 semapv:UnspecifiedMatching MONDO:0001654 spermatic cord cancer skos:exactMatch NCIT:C3559 Malignant Spermatic Cord Neoplasm semapv:UnspecifiedMatching MONDO:0001654 spermatic cord cancer skos:exactMatch SCTID:363453008 semapv:UnspecifiedMatching MONDO:0001654 spermatic cord cancer skos:exactMatch UMLS:C0153603 semapv:UnspecifiedMatching MONDO:0001654 spermatic cord cancer skos:exactMatch icd11.foundation:464224926 Malignant neoplasms of spermatic cord semapv:UnspecifiedMatching MONDO:0001655 dissociated nystagmus skos:exactMatch DOID:13174 dissociated nystagmus semapv:UnspecifiedMatching MONDO:0001655 dissociated nystagmus skos:exactMatch ICD10CM:H55.04 Dissociated nystagmus semapv:UnspecifiedMatching MONDO:0001655 dissociated nystagmus skos:exactMatch MEDGEN:56362 semapv:UnspecifiedMatching MONDO:0001655 dissociated nystagmus skos:exactMatch SCTID:9520006 semapv:UnspecifiedMatching MONDO:0001655 dissociated nystagmus skos:exactMatch UMLS:C0155380 semapv:UnspecifiedMatching MONDO:0001655 dissociated nystagmus skos:exactMatch icd11.foundation:50035755 Dissociated nystagmus semapv:UnspecifiedMatching MONDO:0001656 megaesophagus skos:exactMatch DOID:13186 megaesophagus semapv:UnspecifiedMatching MONDO:0001656 megaesophagus skos:exactMatch MEDGEN:6286 semapv:UnspecifiedMatching MONDO:0001656 megaesophagus skos:exactMatch NCIT:C34811 Megaesophagus semapv:UnspecifiedMatching MONDO:0001656 megaesophagus skos:exactMatch SCTID:70667005 semapv:UnspecifiedMatching MONDO:0001656 megaesophagus skos:exactMatch UMLS:C0025164 semapv:UnspecifiedMatching MONDO:0001657 brain cancer skos:exactMatch DOID:1319 brain cancer semapv:UnspecifiedMatching MONDO:0001657 brain cancer skos:exactMatch ICD10CM:C71 Malignant neoplasm of brain semapv:UnspecifiedMatching MONDO:0001657 brain cancer skos:exactMatch MEDGEN:57796 semapv:UnspecifiedMatching MONDO:0001657 brain cancer skos:exactMatch NCIT:C3568 Malignant Brain Neoplasm semapv:UnspecifiedMatching MONDO:0001657 brain cancer skos:exactMatch SCTID:428061005 semapv:UnspecifiedMatching MONDO:0001657 brain cancer skos:exactMatch UMLS:C0153633 semapv:UnspecifiedMatching MONDO:0001657 brain cancer skos:exactMatch icd11.foundation:189650925 Malignant neoplasms of brain semapv:UnspecifiedMatching MONDO:0001657 brain cancer skos:exactMatch mesh:D001932 semapv:UnspecifiedMatching MONDO:0001658 nontoxic goiter skos:exactMatch DOID:13195 nontoxic goiter semapv:UnspecifiedMatching MONDO:0001658 nontoxic goiter skos:exactMatch MEDGEN:113172 semapv:UnspecifiedMatching MONDO:0001658 nontoxic goiter skos:exactMatch NCIT:C35271 Nontoxic Goiter semapv:UnspecifiedMatching MONDO:0001658 nontoxic goiter skos:exactMatch UMLS:C0221777 semapv:UnspecifiedMatching MONDO:0001660 proliferative diabetic retinopathy skos:exactMatch DOID:13207 proliferative diabetic retinopathy semapv:UnspecifiedMatching MONDO:0001660 proliferative diabetic retinopathy skos:exactMatch EFO:0009322 semapv:UnspecifiedMatching MONDO:0001660 proliferative diabetic retinopathy skos:exactMatch MEDGEN:56347 semapv:UnspecifiedMatching MONDO:0001660 proliferative diabetic retinopathy skos:exactMatch NCIT:C84457 Proliferative Diabetic Retinopathy semapv:UnspecifiedMatching MONDO:0001660 proliferative diabetic retinopathy skos:exactMatch SCTID:59276001 semapv:UnspecifiedMatching MONDO:0001660 proliferative diabetic retinopathy skos:exactMatch UMLS:C0154830 semapv:UnspecifiedMatching MONDO:0001660 proliferative diabetic retinopathy skos:exactMatch icd11.foundation:348602398 Proliferative diabetic retinopathy semapv:UnspecifiedMatching MONDO:0001661 background diabetic retinopathy skos:exactMatch DOID:13208 background diabetic retinopathy semapv:UnspecifiedMatching MONDO:0001661 background diabetic retinopathy skos:exactMatch MEDGEN:2531 semapv:UnspecifiedMatching MONDO:0001661 background diabetic retinopathy skos:exactMatch NCIT:C35668 Non-Proliferative Diabetic Retinopathy semapv:UnspecifiedMatching MONDO:0001661 background diabetic retinopathy skos:exactMatch SCTID:390834004 semapv:UnspecifiedMatching MONDO:0001661 background diabetic retinopathy skos:exactMatch UMLS:C0004606 semapv:UnspecifiedMatching MONDO:0001662 obsolete right bundle branch block skos:exactMatch DOID:13209 right bundle branch block semapv:UnspecifiedMatching MONDO:0001662 obsolete right bundle branch block skos:exactMatch SCTID:59118001 semapv:UnspecifiedMatching MONDO:0001663 hole retinal cyst skos:exactMatch DOID:13214 hole retinal cyst semapv:UnspecifiedMatching MONDO:0001663 hole retinal cyst skos:exactMatch MEDGEN:687835 semapv:UnspecifiedMatching MONDO:0001663 hole retinal cyst skos:exactMatch SCTID:1079004 semapv:UnspecifiedMatching MONDO:0001663 hole retinal cyst skos:exactMatch UMLS:C1261331 semapv:UnspecifiedMatching MONDO:0001664 submucous uterine fibroid skos:exactMatch DOID:13222 submucous uterine fibroid semapv:UnspecifiedMatching MONDO:0001664 submucous uterine fibroid skos:exactMatch ICD10CM:D25.0 Submucous leiomyoma of uterus semapv:UnspecifiedMatching MONDO:0001664 submucous uterine fibroid skos:exactMatch MEDGEN:509501 semapv:UnspecifiedMatching MONDO:0001664 submucous uterine fibroid skos:exactMatch SCTID:95279007 semapv:UnspecifiedMatching MONDO:0001664 submucous uterine fibroid skos:exactMatch UMLS:C0153993 semapv:UnspecifiedMatching MONDO:0001665 oculoglandular tularemia skos:exactMatch DOID:13226 oculoglandular tularemia semapv:UnspecifiedMatching MONDO:0001665 oculoglandular tularemia skos:exactMatch ICD10CM:A21.1 Oculoglandular tularemia semapv:UnspecifiedMatching MONDO:0001665 oculoglandular tularemia skos:exactMatch MEDGEN:509089 semapv:UnspecifiedMatching MONDO:0001665 oculoglandular tularemia skos:exactMatch SCTID:73363000 semapv:UnspecifiedMatching MONDO:0001665 oculoglandular tularemia skos:exactMatch UMLS:C0152944 semapv:UnspecifiedMatching MONDO:0001666 retinal dystrophies primarily involving Bruch's membrane skos:exactMatch DOID:13227 retinal dystrophies primarily involving Bruch's membrane semapv:UnspecifiedMatching MONDO:0001666 retinal dystrophies primarily involving Bruch's membrane skos:exactMatch MEDGEN:1720702 semapv:UnspecifiedMatching MONDO:0001666 retinal dystrophies primarily involving Bruch's membrane skos:exactMatch UMLS:C0154866 semapv:UnspecifiedMatching MONDO:0001667 streptobacillus infectious disease skos:exactMatch MEDGEN:923114 semapv:UnspecifiedMatching MONDO:0001667 streptobacillus infectious disease skos:exactMatch SCTID:721738002 semapv:UnspecifiedMatching MONDO:0001667 streptobacillus infectious disease skos:exactMatch UMLS:C0947939 semapv:UnspecifiedMatching MONDO:0001668 internal pathological resorption of tooth skos:exactMatch DOID:13239 internal pathological resorption semapv:UnspecifiedMatching MONDO:0001668 internal pathological resorption of tooth skos:exactMatch MEDGEN:540237 semapv:UnspecifiedMatching MONDO:0001668 internal pathological resorption of tooth skos:exactMatch SCTID:52994003 semapv:UnspecifiedMatching MONDO:0001668 internal pathological resorption of tooth skos:exactMatch UMLS:C0266880 semapv:UnspecifiedMatching MONDO:0001670 tooth resorption skos:exactMatch DOID:13240 tooth resorption semapv:UnspecifiedMatching MONDO:0001670 tooth resorption skos:exactMatch MEDGEN:21587 semapv:UnspecifiedMatching MONDO:0001670 tooth resorption skos:exactMatch SCTID:70931000 semapv:UnspecifiedMatching MONDO:0001670 tooth resorption skos:exactMatch UMLS:C0040451 semapv:UnspecifiedMatching MONDO:0001670 tooth resorption skos:exactMatch mesh:D014091 semapv:UnspecifiedMatching MONDO:0001671 mucocele of appendix skos:exactMatch DOID:13248 mucocele of appendix semapv:UnspecifiedMatching MONDO:0001671 mucocele of appendix skos:exactMatch MEDGEN:10116 semapv:UnspecifiedMatching MONDO:0001671 mucocele of appendix skos:exactMatch NCIT:C3241 Mucocele of the Appendix semapv:UnspecifiedMatching MONDO:0001671 mucocele of appendix skos:exactMatch SCTID:53773002 semapv:UnspecifiedMatching MONDO:0001671 mucocele of appendix skos:exactMatch UMLS:C0026684 semapv:UnspecifiedMatching MONDO:0001671 mucocele of appendix skos:exactMatch icd11.foundation:159513245 Mucocele of appendix semapv:UnspecifiedMatching MONDO:0001672 bronchus cancer skos:exactMatch DOID:1325 bronchus cancer semapv:UnspecifiedMatching MONDO:0001672 bronchus cancer skos:exactMatch MEDGEN:730206 semapv:UnspecifiedMatching MONDO:0001672 bronchus cancer skos:exactMatch NCIT:C156885 Malignant Bronchial Neoplasm semapv:UnspecifiedMatching MONDO:0001672 bronchus cancer skos:exactMatch SCTID:363493006 semapv:UnspecifiedMatching MONDO:0001672 bronchus cancer skos:exactMatch UMLS:C1322284 semapv:UnspecifiedMatching MONDO:0001672 bronchus cancer skos:exactMatch icd11.foundation:1501594633 Cancer of bronchus semapv:UnspecifiedMatching MONDO:0001673 diarrheal disease skos:exactMatch DOID:13250 diarrhea semapv:UnspecifiedMatching MONDO:0001673 diarrheal disease skos:exactMatch MEDGEN:713159 semapv:UnspecifiedMatching MONDO:0001673 diarrheal disease skos:exactMatch NCIT:C2987 Diarrhea semapv:UnspecifiedMatching MONDO:0001673 diarrheal disease skos:exactMatch SCTID:128333008 semapv:UnspecifiedMatching MONDO:0001673 diarrheal disease skos:exactMatch UMLS:C1290807 semapv:UnspecifiedMatching MONDO:0001673 diarrheal disease skos:exactMatch icd11.foundation:116759077 Diarrhoea semapv:UnspecifiedMatching MONDO:0001673 diarrheal disease skos:exactMatch mesh:D003967 semapv:UnspecifiedMatching MONDO:0001674 diverticulitis of colon skos:exactMatch DOID:13254 diverticulitis of colon semapv:UnspecifiedMatching MONDO:0001674 diverticulitis of colon skos:exactMatch MEDGEN:3877 semapv:UnspecifiedMatching MONDO:0001674 diverticulitis of colon skos:exactMatch SCTID:111359004 semapv:UnspecifiedMatching MONDO:0001674 diverticulitis of colon skos:exactMatch UMLS:C0012814 semapv:UnspecifiedMatching MONDO:0001674 diverticulitis of colon skos:exactMatch mesh:D004239 semapv:UnspecifiedMatching MONDO:0001676 erythropoietic protoporphyria skos:exactMatch DOID:13270 erythropoietic protoporphyria semapv:UnspecifiedMatching MONDO:0001676 erythropoietic protoporphyria skos:exactMatch MEDGEN:56455 semapv:UnspecifiedMatching MONDO:0001676 erythropoietic protoporphyria skos:exactMatch OMIMPS:177000 Protoporphyria, erythropoietic semapv:UnspecifiedMatching MONDO:0001676 erythropoietic protoporphyria skos:exactMatch Orphanet:659681 Erythropoietic porphyria semapv:UnspecifiedMatching MONDO:0001676 erythropoietic protoporphyria skos:exactMatch SCTID:51022005 semapv:UnspecifiedMatching MONDO:0001676 erythropoietic protoporphyria skos:exactMatch UMLS:C0162568 semapv:UnspecifiedMatching MONDO:0001676 erythropoietic protoporphyria skos:exactMatch icd11.foundation:1642941362 Erythropoietic protoporphyria semapv:UnspecifiedMatching MONDO:0001676 erythropoietic protoporphyria skos:exactMatch mesh:D046351 semapv:UnspecifiedMatching MONDO:0001678 intestinal tuberculosis skos:exactMatch DOID:13282 intestinal tuberculosis semapv:UnspecifiedMatching MONDO:0001678 intestinal tuberculosis skos:exactMatch ICD10CM:A18.32 Tuberculous enteritis semapv:UnspecifiedMatching MONDO:0001678 intestinal tuberculosis skos:exactMatch MEDGEN:546943 semapv:UnspecifiedMatching MONDO:0001678 intestinal tuberculosis skos:exactMatch SCTID:60136008 semapv:UnspecifiedMatching MONDO:0001678 intestinal tuberculosis skos:exactMatch UMLS:C0275911 semapv:UnspecifiedMatching MONDO:0001679 obsolete crater-like holes of optic disk skos:exactMatch DOID:13295 crater-like holes of optic disc semapv:UnspecifiedMatching MONDO:0001680 vaginal mullerian papilloma skos:exactMatch DOID:133 vaginal Mullerian papilloma semapv:UnspecifiedMatching MONDO:0001680 vaginal mullerian papilloma skos:exactMatch MEDGEN:276952 semapv:UnspecifiedMatching MONDO:0001680 vaginal mullerian papilloma skos:exactMatch NCIT:C40255 Vaginal Mullerian Papilloma semapv:UnspecifiedMatching MONDO:0001680 vaginal mullerian papilloma skos:exactMatch UMLS:C1519926 semapv:UnspecifiedMatching MONDO:0001681 diphtheritic cystitis skos:exactMatch DOID:13306 diphtheritic cystitis semapv:UnspecifiedMatching MONDO:0001681 diphtheritic cystitis skos:exactMatch ICD10CM:A36.85 Diphtheritic cystitis semapv:UnspecifiedMatching MONDO:0001681 diphtheritic cystitis skos:exactMatch MEDGEN:509093 semapv:UnspecifiedMatching MONDO:0001681 diphtheritic cystitis skos:exactMatch SCTID:48278001 semapv:UnspecifiedMatching MONDO:0001681 diphtheritic cystitis skos:exactMatch UMLS:C0152954 semapv:UnspecifiedMatching MONDO:0001681 diphtheritic cystitis skos:exactMatch icd11.foundation:943460530 Diphtheritic cystitis semapv:UnspecifiedMatching MONDO:0001682 diphtheritic peritonitis skos:exactMatch DOID:13310 diphtheritic peritonitis semapv:UnspecifiedMatching MONDO:0001682 diphtheritic peritonitis skos:exactMatch MEDGEN:509092 semapv:UnspecifiedMatching MONDO:0001682 diphtheritic peritonitis skos:exactMatch SCTID:13596001 semapv:UnspecifiedMatching MONDO:0001682 diphtheritic peritonitis skos:exactMatch UMLS:C0152953 semapv:UnspecifiedMatching MONDO:0001682 diphtheritic peritonitis skos:exactMatch icd11.foundation:114963194 Diphtheritic peritonitis semapv:UnspecifiedMatching MONDO:0001683 pancreatic mucinous ductal ectasia skos:exactMatch DOID:13313 pancreatic mucinous ductal ectasia semapv:UnspecifiedMatching MONDO:0001683 pancreatic mucinous ductal ectasia skos:exactMatch MEDGEN:233831 semapv:UnspecifiedMatching MONDO:0001683 pancreatic mucinous ductal ectasia skos:exactMatch NCIT:C5717 Pancreatic Mucinous Ductal Ectasia semapv:UnspecifiedMatching MONDO:0001683 pancreatic mucinous ductal ectasia skos:exactMatch UMLS:C1335310 semapv:UnspecifiedMatching MONDO:0001684 exocrine pancreatic insufficiency skos:exactMatch DOID:13316 exocrine pancreatic insufficiency semapv:UnspecifiedMatching MONDO:0001684 exocrine pancreatic insufficiency skos:exactMatch ICD10CM:K86.81 Exocrine pancreatic insufficiency semapv:UnspecifiedMatching MONDO:0001684 exocrine pancreatic insufficiency skos:exactMatch MEDGEN:75647 semapv:UnspecifiedMatching MONDO:0001684 exocrine pancreatic insufficiency skos:exactMatch NCIT:C84316 Pancreatic Insufficiency semapv:UnspecifiedMatching MONDO:0001684 exocrine pancreatic insufficiency skos:exactMatch SCTID:47367009 semapv:UnspecifiedMatching MONDO:0001684 exocrine pancreatic insufficiency skos:exactMatch UMLS:C0267963 semapv:UnspecifiedMatching MONDO:0001684 exocrine pancreatic insufficiency skos:exactMatch mesh:D010188 semapv:UnspecifiedMatching MONDO:0001685 chronic follicular conjunctivitis skos:exactMatch DOID:13326 chronic follicular conjunctivitis semapv:UnspecifiedMatching MONDO:0001685 chronic follicular conjunctivitis skos:exactMatch ICD10CM:H10.43 Chronic follicular conjunctivitis semapv:UnspecifiedMatching MONDO:0001685 chronic follicular conjunctivitis skos:exactMatch MEDGEN:509808 semapv:UnspecifiedMatching MONDO:0001685 chronic follicular conjunctivitis skos:exactMatch SCTID:39429002 semapv:UnspecifiedMatching MONDO:0001685 chronic follicular conjunctivitis skos:exactMatch UMLS:C0155147 semapv:UnspecifiedMatching MONDO:0001686 anatomical narrow angle borderline glaucoma skos:exactMatch DOID:13327 anatomical narrow angle borderline glaucoma semapv:UnspecifiedMatching MONDO:0001686 anatomical narrow angle borderline glaucoma skos:exactMatch MEDGEN:1843458 semapv:UnspecifiedMatching MONDO:0001686 anatomical narrow angle borderline glaucoma skos:exactMatch UMLS:C0154941 semapv:UnspecifiedMatching MONDO:0001687 diabetic cataract skos:exactMatch DOID:13328 diabetic cataract semapv:UnspecifiedMatching MONDO:0001687 diabetic cataract skos:exactMatch MEDGEN:507634 semapv:UnspecifiedMatching MONDO:0001687 diabetic cataract skos:exactMatch SCTID:43959009 semapv:UnspecifiedMatching MONDO:0001687 diabetic cataract skos:exactMatch UMLS:C0011876 semapv:UnspecifiedMatching MONDO:0001687 diabetic cataract skos:exactMatch icd11.foundation:340836242 Diabetic cataract semapv:UnspecifiedMatching MONDO:0001688 toxic optic neuropathy skos:exactMatch DOID:13329 toxic optic neuropathy semapv:UnspecifiedMatching MONDO:0001688 toxic optic neuropathy skos:exactMatch ICD10CM:H46.3 Toxic optic neuropathy semapv:UnspecifiedMatching MONDO:0001688 toxic optic neuropathy skos:exactMatch MEDGEN:509903 semapv:UnspecifiedMatching MONDO:0001688 toxic optic neuropathy skos:exactMatch SCTID:26125006 semapv:UnspecifiedMatching MONDO:0001688 toxic optic neuropathy skos:exactMatch UMLS:C0155303 semapv:UnspecifiedMatching MONDO:0001688 toxic optic neuropathy skos:exactMatch icd11.foundation:1481748859 Toxic optic neuropathy semapv:UnspecifiedMatching MONDO:0001688 toxic optic neuropathy skos:exactMatch mesh:D000081028 semapv:UnspecifiedMatching MONDO:0001689 hypertrophy of tongue papillae skos:exactMatch DOID:13333 hypertrophy of tongue papillae semapv:UnspecifiedMatching MONDO:0001689 hypertrophy of tongue papillae skos:exactMatch ICD10CM:K14.3 Hypertrophy of tongue papillae semapv:UnspecifiedMatching MONDO:0001689 hypertrophy of tongue papillae skos:exactMatch MEDGEN:581137 semapv:UnspecifiedMatching MONDO:0001689 hypertrophy of tongue papillae skos:exactMatch SCTID:6971002 semapv:UnspecifiedMatching MONDO:0001689 hypertrophy of tongue papillae skos:exactMatch UMLS:C0392494 semapv:UnspecifiedMatching MONDO:0001689 hypertrophy of tongue papillae skos:exactMatch icd11.foundation:1189946017 Hypertrophy of tongue papillae semapv:UnspecifiedMatching MONDO:0001690 parasitic conjunctivitis skos:exactMatch DOID:13341 parasitic conjunctivitis semapv:UnspecifiedMatching MONDO:0001690 parasitic conjunctivitis skos:exactMatch MEDGEN:509809 semapv:UnspecifiedMatching MONDO:0001690 parasitic conjunctivitis skos:exactMatch SCTID:13816006 semapv:UnspecifiedMatching MONDO:0001690 parasitic conjunctivitis skos:exactMatch UMLS:C0155148 semapv:UnspecifiedMatching MONDO:0001691 laryngeal cartilage cancer skos:exactMatch DOID:13348 laryngeal cartilage cancer semapv:UnspecifiedMatching MONDO:0001691 laryngeal cartilage cancer skos:exactMatch ICD10CM:C32.3 Malignant neoplasm of laryngeal cartilage semapv:UnspecifiedMatching MONDO:0001691 laryngeal cartilage cancer skos:exactMatch MEDGEN:509306 semapv:UnspecifiedMatching MONDO:0001691 laryngeal cartilage cancer skos:exactMatch SCTID:363431006 semapv:UnspecifiedMatching MONDO:0001691 laryngeal cartilage cancer skos:exactMatch UMLS:C0153486 semapv:UnspecifiedMatching MONDO:0001691 laryngeal cartilage cancer skos:exactMatch icd11.foundation:697702574 Malignant neoplasm of laryngeal cartilage semapv:UnspecifiedMatching MONDO:0001692 pedophilia skos:exactMatch DOID:13351 pedophilia semapv:UnspecifiedMatching MONDO:0001692 pedophilia skos:exactMatch ICD10CM:F65.4 Pedophilia semapv:UnspecifiedMatching MONDO:0001692 pedophilia skos:exactMatch MEDGEN:18340 semapv:UnspecifiedMatching MONDO:0001692 pedophilia skos:exactMatch NCIT:C94355 Pedophilia semapv:UnspecifiedMatching MONDO:0001692 pedophilia skos:exactMatch SCTID:84002002 semapv:UnspecifiedMatching MONDO:0001692 pedophilia skos:exactMatch UMLS:C0030764 semapv:UnspecifiedMatching MONDO:0001692 pedophilia skos:exactMatch icd11.foundation:517058174 Pedophilic disorder semapv:UnspecifiedMatching MONDO:0001692 pedophilia skos:exactMatch mesh:D010378 semapv:UnspecifiedMatching MONDO:0001693 obsolete ego-dystonic sexual orientation skos:exactMatch DOID:13352 ego-dystonic sexual orientation semapv:UnspecifiedMatching MONDO:0001694 diffuse interstitial keratitis skos:exactMatch DOID:13353 diffuse interstitial keratitis semapv:UnspecifiedMatching MONDO:0001694 diffuse interstitial keratitis skos:exactMatch ICD10CM:H16.32 Diffuse interstitial keratitis semapv:UnspecifiedMatching MONDO:0001694 diffuse interstitial keratitis skos:exactMatch MEDGEN:509780 semapv:UnspecifiedMatching MONDO:0001694 diffuse interstitial keratitis skos:exactMatch SCTID:17157001 semapv:UnspecifiedMatching MONDO:0001694 diffuse interstitial keratitis skos:exactMatch UMLS:C0155089 semapv:UnspecifiedMatching MONDO:0001694 diffuse interstitial keratitis skos:exactMatch icd11.foundation:1750662534 Diffuse interstitial keratitis semapv:UnspecifiedMatching MONDO:0001695 senile ectropion skos:exactMatch DOID:13356 senile ectropion semapv:UnspecifiedMatching MONDO:0001695 senile ectropion skos:exactMatch MEDGEN:509841 semapv:UnspecifiedMatching MONDO:0001695 senile ectropion skos:exactMatch SCTID:71659009 semapv:UnspecifiedMatching MONDO:0001695 senile ectropion skos:exactMatch UMLS:C0155193 semapv:UnspecifiedMatching MONDO:0001697 reading disorder skos:exactMatch DOID:13365 reading disorder semapv:UnspecifiedMatching MONDO:0001697 reading disorder skos:exactMatch SCTID:52824009 semapv:UnspecifiedMatching MONDO:0001698 tinea profunda skos:exactMatch DOID:13368 tinea profunda semapv:UnspecifiedMatching MONDO:0001698 tinea profunda skos:exactMatch SCTID:214600002 semapv:UnspecifiedMatching MONDO:0001699 tinea manuum skos:exactMatch DOID:13369 tinea manuum semapv:UnspecifiedMatching MONDO:0001699 tinea manuum skos:exactMatch ICD10CM:B35.2 Tinea manuum semapv:UnspecifiedMatching MONDO:0001699 tinea manuum skos:exactMatch MEDGEN:509222 semapv:UnspecifiedMatching MONDO:0001699 tinea manuum skos:exactMatch SCTID:48971001 semapv:UnspecifiedMatching MONDO:0001699 tinea manuum skos:exactMatch UMLS:C0153246 semapv:UnspecifiedMatching MONDO:0001699 tinea manuum skos:exactMatch icd11.foundation:329171616 Dermatophytosis of hand semapv:UnspecifiedMatching MONDO:0001700 megaloblastic anemia skos:exactMatch DOID:13382 megaloblastic anemia semapv:UnspecifiedMatching MONDO:0001700 megaloblastic anemia skos:exactMatch MEDGEN:1527 semapv:UnspecifiedMatching MONDO:0001700 megaloblastic anemia skos:exactMatch NCIT:C34382 Megaloblastic Anemia semapv:UnspecifiedMatching MONDO:0001700 megaloblastic anemia skos:exactMatch SCTID:53165003 semapv:UnspecifiedMatching MONDO:0001700 megaloblastic anemia skos:exactMatch UMLS:C0002888 semapv:UnspecifiedMatching MONDO:0001701 gastrointestinal anthrax skos:exactMatch DOID:13386 gastrointestinal anthrax semapv:UnspecifiedMatching MONDO:0001701 gastrointestinal anthrax skos:exactMatch ICD10CM:A22.2 Gastrointestinal anthrax semapv:UnspecifiedMatching MONDO:0001701 gastrointestinal anthrax skos:exactMatch MEDGEN:102256 semapv:UnspecifiedMatching MONDO:0001701 gastrointestinal anthrax skos:exactMatch SCTID:111798006 semapv:UnspecifiedMatching MONDO:0001701 gastrointestinal anthrax skos:exactMatch UMLS:C0152945 semapv:UnspecifiedMatching MONDO:0001701 gastrointestinal anthrax skos:exactMatch icd11.foundation:1800193089 Gastrointestinal anthrax semapv:UnspecifiedMatching MONDO:0001701 gastrointestinal anthrax skos:exactMatch mesh:C571911 semapv:UnspecifiedMatching MONDO:0001702 labia majora carcinoma skos:exactMatch DOID:13389 labia majora carcinoma semapv:UnspecifiedMatching MONDO:0001702 labia majora carcinoma skos:exactMatch MEDGEN:235247 semapv:UnspecifiedMatching MONDO:0001702 labia majora carcinoma skos:exactMatch NCIT:C9363 Labia Majora Carcinoma semapv:UnspecifiedMatching MONDO:0001702 labia majora carcinoma skos:exactMatch UMLS:C1334356 semapv:UnspecifiedMatching MONDO:0001703 color vision disorder skos:exactMatch DOID:13399 color blindness semapv:UnspecifiedMatching MONDO:0001703 color vision disorder skos:exactMatch ICD10CM:H53.5 Color vision deficiencies semapv:UnspecifiedMatching MONDO:0001703 color vision disorder skos:exactMatch MEDGEN:1826147 semapv:UnspecifiedMatching MONDO:0001703 color vision disorder skos:exactMatch NCIT:C3891 Color Blindness semapv:UnspecifiedMatching MONDO:0001703 color vision disorder skos:exactMatch Orphanet:98658 Color-vision disease semapv:UnspecifiedMatching MONDO:0001703 color vision disorder skos:exactMatch SCTID:193683001 semapv:UnspecifiedMatching MONDO:0001703 color vision disorder skos:exactMatch UMLS:C5681659 semapv:UnspecifiedMatching MONDO:0001704 vaginal glandular neoplasm skos:exactMatch DOID:134 vaginal glandular tumor semapv:UnspecifiedMatching MONDO:0001704 vaginal glandular neoplasm skos:exactMatch MEDGEN:275574 semapv:UnspecifiedMatching MONDO:0001704 vaginal glandular neoplasm skos:exactMatch NCIT:C40250 Vaginal Glandular Neoplasm semapv:UnspecifiedMatching MONDO:0001704 vaginal glandular neoplasm skos:exactMatch UMLS:C1519921 semapv:UnspecifiedMatching MONDO:0001705 pure red-cell aplasia skos:exactMatch DOID:1340 pure red-cell aplasia semapv:UnspecifiedMatching MONDO:0001705 pure red-cell aplasia skos:exactMatch MEDGEN:11154 semapv:UnspecifiedMatching MONDO:0001705 pure red-cell aplasia skos:exactMatch NCIT:C34974 Pure Red Cell Aplasia semapv:UnspecifiedMatching MONDO:0001705 pure red-cell aplasia skos:exactMatch SCTID:50715003 semapv:UnspecifiedMatching MONDO:0001705 pure red-cell aplasia skos:exactMatch UMLS:C0034902 semapv:UnspecifiedMatching MONDO:0001705 pure red-cell aplasia skos:exactMatch mesh:D012010 semapv:UnspecifiedMatching MONDO:0001706 cerebral sarcoidosis skos:exactMatch DOID:13403 neurosarcoidosis semapv:UnspecifiedMatching MONDO:0001706 cerebral sarcoidosis skos:exactMatch MEDGEN:140767 semapv:UnspecifiedMatching MONDO:0001706 cerebral sarcoidosis skos:exactMatch NCIT:C35441 Cerebral Sarcoidosis semapv:UnspecifiedMatching MONDO:0001706 cerebral sarcoidosis skos:exactMatch SCTID:111936002 semapv:UnspecifiedMatching MONDO:0001706 cerebral sarcoidosis skos:exactMatch UMLS:C0398676 semapv:UnspecifiedMatching MONDO:0001707 cardiac sarcoidosis skos:exactMatch DOID:13405 cardiac sarcoidosis semapv:UnspecifiedMatching MONDO:0001707 cardiac sarcoidosis skos:exactMatch MEDGEN:140260 semapv:UnspecifiedMatching MONDO:0001707 cardiac sarcoidosis skos:exactMatch NCIT:C35589 Cardiac Sarcoidosis semapv:UnspecifiedMatching MONDO:0001707 cardiac sarcoidosis skos:exactMatch SCTID:75403004 semapv:UnspecifiedMatching MONDO:0001707 cardiac sarcoidosis skos:exactMatch UMLS:C0392077 semapv:UnspecifiedMatching MONDO:0001708 pulmonary sarcoidosis skos:exactMatch DOID:13406 pulmonary sarcoidosis semapv:UnspecifiedMatching MONDO:0001708 pulmonary sarcoidosis skos:exactMatch ICD10CM:D86.0 Sarcoidosis of lung semapv:UnspecifiedMatching MONDO:0001708 pulmonary sarcoidosis skos:exactMatch MEDGEN:19873 semapv:UnspecifiedMatching MONDO:0001708 pulmonary sarcoidosis skos:exactMatch NCIT:C34997 Pulmonary Sarcoidosis semapv:UnspecifiedMatching MONDO:0001708 pulmonary sarcoidosis skos:exactMatch SCTID:24369008 semapv:UnspecifiedMatching MONDO:0001708 pulmonary sarcoidosis skos:exactMatch UMLS:C0036205 semapv:UnspecifiedMatching MONDO:0001708 pulmonary sarcoidosis skos:exactMatch mesh:D017565 semapv:UnspecifiedMatching MONDO:0001709 hypercalcemic sarcoidosis skos:exactMatch DOID:13407 hypercalcemic sarcoidosis semapv:UnspecifiedMatching MONDO:0001709 hypercalcemic sarcoidosis skos:exactMatch MEDGEN:272729 semapv:UnspecifiedMatching MONDO:0001709 hypercalcemic sarcoidosis skos:exactMatch NCIT:C35807 Hypercalcemic Sarcoidosis semapv:UnspecifiedMatching MONDO:0001709 hypercalcemic sarcoidosis skos:exactMatch UMLS:C1334067 semapv:UnspecifiedMatching MONDO:0001710 perforation of bile duct skos:exactMatch DOID:13409 perforation of bile duct semapv:UnspecifiedMatching MONDO:0001710 perforation of bile duct skos:exactMatch ICD10CM:K83.2 Perforation of bile duct semapv:UnspecifiedMatching MONDO:0001710 perforation of bile duct skos:exactMatch MEDGEN:56376 semapv:UnspecifiedMatching MONDO:0001710 perforation of bile duct skos:exactMatch SCTID:37439003 semapv:UnspecifiedMatching MONDO:0001710 perforation of bile duct skos:exactMatch UMLS:C0156218 semapv:UnspecifiedMatching MONDO:0001710 perforation of bile duct skos:exactMatch icd11.foundation:2011913010 Perforation of bile duct semapv:UnspecifiedMatching MONDO:0001711 hepatic encephalopathy skos:exactMatch DOID:13413 hepatic encephalopathy semapv:UnspecifiedMatching MONDO:0001711 hepatic encephalopathy skos:exactMatch MEDGEN:5513 semapv:UnspecifiedMatching MONDO:0001711 hepatic encephalopathy skos:exactMatch NCIT:C79596 Hepatic Encephalopathy semapv:UnspecifiedMatching MONDO:0001711 hepatic encephalopathy skos:exactMatch SCTID:13920009 semapv:UnspecifiedMatching MONDO:0001711 hepatic encephalopathy skos:exactMatch UMLS:C0019151 semapv:UnspecifiedMatching MONDO:0001711 hepatic encephalopathy skos:exactMatch icd11.foundation:1769383160 Hepatic encephalopathy semapv:UnspecifiedMatching MONDO:0001711 hepatic encephalopathy skos:exactMatch mesh:D006501 semapv:UnspecifiedMatching MONDO:0001712 alexia skos:exactMatch DOID:13417 alexia semapv:UnspecifiedMatching MONDO:0001712 alexia skos:exactMatch MEDGEN:1809 semapv:UnspecifiedMatching MONDO:0001712 alexia skos:exactMatch UMLS:C0002018 semapv:UnspecifiedMatching MONDO:0001712 alexia skos:exactMatch icd11.foundation:262295178 Alexia semapv:UnspecifiedMatching MONDO:0001712 alexia skos:exactMatch mesh:D004411 semapv:UnspecifiedMatching MONDO:0001713 inherited aplastic anemia skos:exactMatch DOID:1342 congenital hypoplastic anemia semapv:UnspecifiedMatching MONDO:0001713 inherited aplastic anemia skos:exactMatch ICD10CM:D61.0 Constitutional aplastic anemia semapv:UnspecifiedMatching MONDO:0001713 inherited aplastic anemia skos:exactMatch MEDGEN:1826154 semapv:UnspecifiedMatching MONDO:0001713 inherited aplastic anemia skos:exactMatch Orphanet:397692 Hereditary isolated aplastic anemia semapv:UnspecifiedMatching MONDO:0001713 inherited aplastic anemia skos:exactMatch Orphanet:68383 Rare constitutional aplastic anemia semapv:UnspecifiedMatching MONDO:0001713 inherited aplastic anemia skos:exactMatch SCTID:28975000 semapv:UnspecifiedMatching MONDO:0001713 inherited aplastic anemia skos:exactMatch UMLS:C5681331 semapv:UnspecifiedMatching MONDO:0001713 inherited aplastic anemia skos:exactMatch mesh:D029502 semapv:UnspecifiedMatching MONDO:0001714 bejel skos:exactMatch DOID:13431 bejel semapv:UnspecifiedMatching MONDO:0001714 bejel skos:exactMatch ICD10CM:A65 Nonvenereal syphilis semapv:UnspecifiedMatching MONDO:0001714 bejel skos:exactMatch MEDGEN:2569 semapv:UnspecifiedMatching MONDO:0001714 bejel skos:exactMatch UMLS:C0004945 semapv:UnspecifiedMatching MONDO:0001715 basilar artery occlusion skos:exactMatch DOID:13446 basilar artery occlusion semapv:UnspecifiedMatching MONDO:0001715 basilar artery occlusion skos:exactMatch MEDGEN:539076 semapv:UnspecifiedMatching MONDO:0001715 basilar artery occlusion skos:exactMatch SCTID:195180004 semapv:UnspecifiedMatching MONDO:0001715 basilar artery occlusion skos:exactMatch UMLS:C0265098 semapv:UnspecifiedMatching MONDO:0001716 corneal argyrosis skos:exactMatch DOID:13447 corneal argyrosis semapv:UnspecifiedMatching MONDO:0001716 corneal argyrosis skos:exactMatch ICD10CM:H18.02 Argentous corneal deposits semapv:UnspecifiedMatching MONDO:0001716 corneal argyrosis skos:exactMatch MEDGEN:509793 semapv:UnspecifiedMatching MONDO:0001716 corneal argyrosis skos:exactMatch SCTID:21328003 semapv:UnspecifiedMatching MONDO:0001716 corneal argyrosis skos:exactMatch UMLS:C0155108 semapv:UnspecifiedMatching MONDO:0001717 posterior corneal pigmentation skos:exactMatch DOID:13448 posterior corneal pigmentation semapv:UnspecifiedMatching MONDO:0001717 posterior corneal pigmentation skos:exactMatch ICD10CM:H18.05 Posterior corneal pigmentations semapv:UnspecifiedMatching MONDO:0001717 posterior corneal pigmentation skos:exactMatch MEDGEN:509792 semapv:UnspecifiedMatching MONDO:0001717 posterior corneal pigmentation skos:exactMatch SCTID:267639001 semapv:UnspecifiedMatching MONDO:0001717 posterior corneal pigmentation skos:exactMatch UMLS:C0155106 semapv:UnspecifiedMatching MONDO:0001718 scleritis skos:exactMatch DOID:13452 scleritis semapv:UnspecifiedMatching MONDO:0001718 scleritis skos:exactMatch ICD10CM:H15.0 Scleritis semapv:UnspecifiedMatching MONDO:0001718 scleritis skos:exactMatch MEDGEN:48585 semapv:UnspecifiedMatching MONDO:0001718 scleritis skos:exactMatch NCIT:C119046 Scleritis semapv:UnspecifiedMatching MONDO:0001718 scleritis skos:exactMatch SCTID:78370002 semapv:UnspecifiedMatching MONDO:0001718 scleritis skos:exactMatch UMLS:C0036416 semapv:UnspecifiedMatching MONDO:0001718 scleritis skos:exactMatch icd11.foundation:2097802831 Scleritis semapv:UnspecifiedMatching MONDO:0001718 scleritis skos:exactMatch mesh:D015423 semapv:UnspecifiedMatching MONDO:0001719 gonococcal bursitis skos:exactMatch DOID:13453 gonococcal bursitis semapv:UnspecifiedMatching MONDO:0001719 gonococcal bursitis skos:exactMatch MEDGEN:509211 semapv:UnspecifiedMatching MONDO:0001719 gonococcal bursitis skos:exactMatch SCTID:46699001 semapv:UnspecifiedMatching MONDO:0001719 gonococcal bursitis skos:exactMatch UMLS:C0153218 semapv:UnspecifiedMatching MONDO:0001719 gonococcal bursitis skos:exactMatch icd11.foundation:360081115 Gonococcal bursitis semapv:UnspecifiedMatching MONDO:0001720 gonococcal synovitis skos:exactMatch DOID:13454 gonococcal synovitis semapv:UnspecifiedMatching MONDO:0001720 gonococcal synovitis skos:exactMatch MEDGEN:546735 semapv:UnspecifiedMatching MONDO:0001720 gonococcal synovitis skos:exactMatch SCTID:266138002 semapv:UnspecifiedMatching MONDO:0001720 gonococcal synovitis skos:exactMatch UMLS:C0275662 semapv:UnspecifiedMatching MONDO:0001720 gonococcal synovitis skos:exactMatch icd11.foundation:491869700 Gonococcal synovitis semapv:UnspecifiedMatching MONDO:0001721 urethral intrinsic sphincter deficiency skos:exactMatch DOID:13461 urethral intrinsic sphincter deficiency semapv:UnspecifiedMatching MONDO:0001721 urethral intrinsic sphincter deficiency skos:exactMatch MEDGEN:843584 semapv:UnspecifiedMatching MONDO:0001721 urethral intrinsic sphincter deficiency skos:exactMatch UMLS:C0375381 semapv:UnspecifiedMatching MONDO:0001722 central pterygium skos:exactMatch DOID:13473 central pterygium semapv:UnspecifiedMatching MONDO:0001722 central pterygium skos:exactMatch MEDGEN:509816 semapv:UnspecifiedMatching MONDO:0001722 central pterygium skos:exactMatch SCTID:43300008 semapv:UnspecifiedMatching MONDO:0001722 central pterygium skos:exactMatch UMLS:C0155156 semapv:UnspecifiedMatching MONDO:0001723 progressive peripheral pterygium skos:exactMatch DOID:13474 progressive peripheral pterygium semapv:UnspecifiedMatching MONDO:0001723 progressive peripheral pterygium skos:exactMatch MEDGEN:509815 semapv:UnspecifiedMatching MONDO:0001723 progressive peripheral pterygium skos:exactMatch SCTID:193881001 semapv:UnspecifiedMatching MONDO:0001723 progressive peripheral pterygium skos:exactMatch UMLS:C0155155 semapv:UnspecifiedMatching MONDO:0001724 supraglottis cancer skos:exactMatch DOID:13476 supraglottis cancer semapv:UnspecifiedMatching MONDO:0001724 supraglottis cancer skos:exactMatch ICD10CM:C32.1 Malignant neoplasm of supraglottis semapv:UnspecifiedMatching MONDO:0001724 supraglottis cancer skos:exactMatch MEDGEN:57561 semapv:UnspecifiedMatching MONDO:0001724 supraglottis cancer skos:exactMatch NCIT:C3545 Malignant Supraglottis Neoplasm semapv:UnspecifiedMatching MONDO:0001724 supraglottis cancer skos:exactMatch SCTID:187842004 semapv:UnspecifiedMatching MONDO:0001724 supraglottis cancer skos:exactMatch UMLS:C0153484 semapv:UnspecifiedMatching MONDO:0001725 balanitis xerotica obliterans skos:exactMatch DOID:13477 balanitis xerotica obliterans semapv:UnspecifiedMatching MONDO:0001725 balanitis xerotica obliterans skos:exactMatch MEDGEN:57542 semapv:UnspecifiedMatching MONDO:0001725 balanitis xerotica obliterans skos:exactMatch NCIT:C3523 Balanitis Xerotica Obliterans semapv:UnspecifiedMatching MONDO:0001725 balanitis xerotica obliterans skos:exactMatch SCTID:198033005 semapv:UnspecifiedMatching MONDO:0001725 balanitis xerotica obliterans skos:exactMatch UMLS:C0152460 semapv:UnspecifiedMatching MONDO:0001725 balanitis xerotica obliterans skos:exactMatch mesh:D052798 semapv:UnspecifiedMatching MONDO:0001727 active cochleovestibular Meniere disease skos:exactMatch DOID:13490 active cochleovestibular Meniere's disease semapv:UnspecifiedMatching MONDO:0001727 active cochleovestibular Meniere disease skos:exactMatch MEDGEN:509989 semapv:UnspecifiedMatching MONDO:0001727 active cochleovestibular Meniere disease skos:exactMatch SCTID:194348002 semapv:UnspecifiedMatching MONDO:0001727 active cochleovestibular Meniere disease skos:exactMatch UMLS:C0155496 semapv:UnspecifiedMatching MONDO:0001728 active vestibular Meniere disease skos:exactMatch DOID:13491 active vestibular Meniere's disease semapv:UnspecifiedMatching MONDO:0001728 active vestibular Meniere disease skos:exactMatch MEDGEN:509991 semapv:UnspecifiedMatching MONDO:0001728 active vestibular Meniere disease skos:exactMatch SCTID:194350005 semapv:UnspecifiedMatching MONDO:0001728 active vestibular Meniere disease skos:exactMatch UMLS:C0155498 semapv:UnspecifiedMatching MONDO:0001729 active cochlear Meniere disease skos:exactMatch DOID:13492 active cochlear Meniere's disease semapv:UnspecifiedMatching MONDO:0001729 active cochlear Meniere disease skos:exactMatch MEDGEN:509990 semapv:UnspecifiedMatching MONDO:0001729 active cochlear Meniere disease skos:exactMatch SCTID:194349005 semapv:UnspecifiedMatching MONDO:0001729 active cochlear Meniere disease skos:exactMatch UMLS:C0155497 semapv:UnspecifiedMatching MONDO:0001730 urethral syndrome skos:exactMatch DOID:13498 urethral syndrome semapv:UnspecifiedMatching MONDO:0001730 urethral syndrome skos:exactMatch MEDGEN:510225 semapv:UnspecifiedMatching MONDO:0001730 urethral syndrome skos:exactMatch SCTID:31273004 semapv:UnspecifiedMatching MONDO:0001730 urethral syndrome skos:exactMatch UMLS:C0156279 semapv:UnspecifiedMatching MONDO:0001731 benign vaginal mixed epithelial and mesenchymal neoplasm skos:exactMatch DOID:135 benign vaginal carcinosarcoma semapv:UnspecifiedMatching MONDO:0001731 benign vaginal mixed epithelial and mesenchymal neoplasm skos:exactMatch MEDGEN:267349 semapv:UnspecifiedMatching MONDO:0001731 benign vaginal mixed epithelial and mesenchymal neoplasm skos:exactMatch NCIT:C40275 Benign Vaginal Mixed Epithelial and Mesenchymal Neoplasm semapv:UnspecifiedMatching MONDO:0001731 benign vaginal mixed epithelial and mesenchymal neoplasm skos:exactMatch UMLS:C1511106 semapv:UnspecifiedMatching MONDO:0001732 trigonitis skos:exactMatch DOID:13507 trigonitis semapv:UnspecifiedMatching MONDO:0001732 trigonitis skos:exactMatch ICD10CM:N30.3 Trigonitis semapv:UnspecifiedMatching MONDO:0001732 trigonitis skos:exactMatch MEDGEN:687797 semapv:UnspecifiedMatching MONDO:0001732 trigonitis skos:exactMatch NCIT:C123175 Trigonitis semapv:UnspecifiedMatching MONDO:0001732 trigonitis skos:exactMatch SCTID:74445007 semapv:UnspecifiedMatching MONDO:0001732 trigonitis skos:exactMatch UMLS:C1261278 semapv:UnspecifiedMatching MONDO:0001732 trigonitis skos:exactMatch icd11.foundation:1938116176 Trigonitis semapv:UnspecifiedMatching MONDO:0001733 occlusion of tributary of retinal vein skos:exactMatch DOID:13514 venous tributary occlusion of retina semapv:UnspecifiedMatching MONDO:0001734 tuberous sclerosis skos:exactMatch DOID:13515 tuberous sclerosis semapv:UnspecifiedMatching MONDO:0001734 tuberous sclerosis skos:exactMatch ICD10CM:Q85.1 Tuberous sclerosis semapv:UnspecifiedMatching MONDO:0001734 tuberous sclerosis skos:exactMatch MEDGEN:22518 semapv:UnspecifiedMatching MONDO:0001734 tuberous sclerosis skos:exactMatch NCIT:C3424 Tuberous Sclerosis semapv:UnspecifiedMatching MONDO:0001734 tuberous sclerosis skos:exactMatch OMIMPS:191100 Tuberous sclerosis semapv:UnspecifiedMatching MONDO:0001734 tuberous sclerosis skos:exactMatch Orphanet:805 Tuberous sclerosis complex semapv:UnspecifiedMatching MONDO:0001734 tuberous sclerosis skos:exactMatch SCTID:7199000 semapv:UnspecifiedMatching MONDO:0001734 tuberous sclerosis skos:exactMatch UMLS:C0041341 semapv:UnspecifiedMatching MONDO:0001734 tuberous sclerosis skos:exactMatch icd11.foundation:1903085809 Tuberous sclerosis semapv:UnspecifiedMatching MONDO:0001734 tuberous sclerosis skos:exactMatch mesh:D014402 semapv:UnspecifiedMatching MONDO:0001735 paranasal sinus disorder skos:exactMatch DOID:1352 paranasal sinus disease semapv:UnspecifiedMatching MONDO:0001735 paranasal sinus disorder skos:exactMatch EFO:0009481 semapv:UnspecifiedMatching MONDO:0001735 paranasal sinus disorder skos:exactMatch MEDGEN:14608 semapv:UnspecifiedMatching MONDO:0001735 paranasal sinus disorder skos:exactMatch NCIT:C26843 Paranasal Sinus Disorder semapv:UnspecifiedMatching MONDO:0001735 paranasal sinus disorder skos:exactMatch SCTID:7393007 semapv:UnspecifiedMatching MONDO:0001735 paranasal sinus disorder skos:exactMatch UMLS:C0030469 semapv:UnspecifiedMatching MONDO:0001735 paranasal sinus disorder skos:exactMatch mesh:D010254 semapv:UnspecifiedMatching MONDO:0001736 neonatal infective mastitis skos:exactMatch DOID:13520 neonatal infective mastitis semapv:UnspecifiedMatching MONDO:0001736 neonatal infective mastitis skos:exactMatch ICD10CM:P39.0 Neonatal infective mastitis semapv:UnspecifiedMatching MONDO:0001736 neonatal infective mastitis skos:exactMatch MEDGEN:510679 semapv:UnspecifiedMatching MONDO:0001736 neonatal infective mastitis skos:exactMatch SCTID:3468005 semapv:UnspecifiedMatching MONDO:0001736 neonatal infective mastitis skos:exactMatch UMLS:C0158948 semapv:UnspecifiedMatching MONDO:0001737 tetanus neonatorum skos:exactMatch DOID:13521 tetanus neonatorum semapv:UnspecifiedMatching MONDO:0001737 tetanus neonatorum skos:exactMatch ICD10CM:A33 Tetanus neonatorum semapv:UnspecifiedMatching MONDO:0001737 tetanus neonatorum skos:exactMatch ICD10WHO:A33 Tetanus neonatorum semapv:UnspecifiedMatching MONDO:0001737 tetanus neonatorum skos:exactMatch MEDGEN:575516 semapv:UnspecifiedMatching MONDO:0001737 tetanus neonatorum skos:exactMatch NCIT:C116814 Tetanus Neonatorum semapv:UnspecifiedMatching MONDO:0001737 tetanus neonatorum skos:exactMatch SCTID:43424001 semapv:UnspecifiedMatching MONDO:0001737 tetanus neonatorum skos:exactMatch UMLS:C0343312 semapv:UnspecifiedMatching MONDO:0001737 tetanus neonatorum skos:exactMatch icd11.foundation:2085616610 Tetanus neonatorum semapv:UnspecifiedMatching MONDO:0001739 purulent labyrinthitis skos:exactMatch DOID:13534 purulent labyrinthitis semapv:UnspecifiedMatching MONDO:0001739 purulent labyrinthitis skos:exactMatch MEDGEN:509995 semapv:UnspecifiedMatching MONDO:0001739 purulent labyrinthitis skos:exactMatch SCTID:24817009 semapv:UnspecifiedMatching MONDO:0001739 purulent labyrinthitis skos:exactMatch UMLS:C0155506 semapv:UnspecifiedMatching MONDO:0001739 purulent labyrinthitis skos:exactMatch icd11.foundation:479586656 Purulent labyrinthitis semapv:UnspecifiedMatching MONDO:0001740 cornea squamous cell carcinoma skos:exactMatch DOID:13538 cornea squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0001740 cornea squamous cell carcinoma skos:exactMatch MEDGEN:91102 semapv:UnspecifiedMatching MONDO:0001740 cornea squamous cell carcinoma skos:exactMatch NCIT:C4552 Corneal Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0001740 cornea squamous cell carcinoma skos:exactMatch SCTID:255008003 semapv:UnspecifiedMatching MONDO:0001740 cornea squamous cell carcinoma skos:exactMatch UMLS:C0346366 semapv:UnspecifiedMatching MONDO:0001741 hyperparathyroidism skos:exactMatch DOID:13543 hyperparathyroidism semapv:UnspecifiedMatching MONDO:0001741 hyperparathyroidism skos:exactMatch EFO:0008506 semapv:UnspecifiedMatching MONDO:0001741 hyperparathyroidism skos:exactMatch MEDGEN:6967 semapv:UnspecifiedMatching MONDO:0001741 hyperparathyroidism skos:exactMatch NCIT:C48259 Hyperparathyroidism semapv:UnspecifiedMatching MONDO:0001741 hyperparathyroidism skos:exactMatch SCTID:66999008 semapv:UnspecifiedMatching MONDO:0001741 hyperparathyroidism skos:exactMatch UMLS:C0020502 semapv:UnspecifiedMatching MONDO:0001741 hyperparathyroidism skos:exactMatch icd11.foundation:9633776 Hyperparathyroidism semapv:UnspecifiedMatching MONDO:0001741 hyperparathyroidism skos:exactMatch mesh:D006961 semapv:UnspecifiedMatching MONDO:0001742 interval angle-closure glaucoma skos:exactMatch DOID:13549 interval angle-closure glaucoma semapv:UnspecifiedMatching MONDO:0001742 interval angle-closure glaucoma skos:exactMatch ICD10CM:H40.23 Intermittent angle-closure glaucoma semapv:UnspecifiedMatching MONDO:0001742 interval angle-closure glaucoma skos:exactMatch MEDGEN:509734 semapv:UnspecifiedMatching MONDO:0001742 interval angle-closure glaucoma skos:exactMatch SCTID:65460003 semapv:UnspecifiedMatching MONDO:0001742 interval angle-closure glaucoma skos:exactMatch UMLS:C0154945 semapv:UnspecifiedMatching MONDO:0001743 paranasal sinus lymphoma skos:exactMatch DOID:1355 paranasal sinus lymphoma semapv:UnspecifiedMatching MONDO:0001743 paranasal sinus lymphoma skos:exactMatch MEDGEN:277498 semapv:UnspecifiedMatching MONDO:0001743 paranasal sinus lymphoma skos:exactMatch NCIT:C6068 Paranasal Sinus Lymphoma semapv:UnspecifiedMatching MONDO:0001743 paranasal sinus lymphoma skos:exactMatch UMLS:C1335339 semapv:UnspecifiedMatching MONDO:0001744 angle-closure glaucoma skos:exactMatch DOID:13550 angle-closure glaucoma semapv:UnspecifiedMatching MONDO:0001744 angle-closure glaucoma skos:exactMatch MEDGEN:6610 semapv:UnspecifiedMatching MONDO:0001744 angle-closure glaucoma skos:exactMatch SCTID:392291006 semapv:UnspecifiedMatching MONDO:0001744 angle-closure glaucoma skos:exactMatch UMLS:C0017605 semapv:UnspecifiedMatching MONDO:0001744 angle-closure glaucoma skos:exactMatch mesh:D015812 semapv:UnspecifiedMatching MONDO:0001745 subserous uterine fibroid skos:exactMatch DOID:13560 subserous uterine fibroid semapv:UnspecifiedMatching MONDO:0001745 subserous uterine fibroid skos:exactMatch MEDGEN:509503 semapv:UnspecifiedMatching MONDO:0001745 subserous uterine fibroid skos:exactMatch SCTID:95280005 semapv:UnspecifiedMatching MONDO:0001745 subserous uterine fibroid skos:exactMatch UMLS:C0153995 semapv:UnspecifiedMatching MONDO:0001746 optic disk drusen skos:exactMatch DOID:13561 optic disk drusen semapv:UnspecifiedMatching MONDO:0001746 optic disk drusen skos:exactMatch ICD10CM:H47.32 Drusen of optic disc semapv:UnspecifiedMatching MONDO:0001746 optic disk drusen skos:exactMatch MEDGEN:14495 semapv:UnspecifiedMatching MONDO:0001746 optic disk drusen skos:exactMatch SCTID:33629003 semapv:UnspecifiedMatching MONDO:0001746 optic disk drusen skos:exactMatch UMLS:C0029128 semapv:UnspecifiedMatching MONDO:0001746 optic disk drusen skos:exactMatch mesh:D015594 semapv:UnspecifiedMatching MONDO:0001747 tibial collateral ligament bursitis skos:exactMatch DOID:13566 tibial collateral ligament bursitis semapv:UnspecifiedMatching MONDO:0001747 tibial collateral ligament bursitis skos:exactMatch MEDGEN:510511 semapv:UnspecifiedMatching MONDO:0001747 tibial collateral ligament bursitis skos:exactMatch SCTID:44245003 semapv:UnspecifiedMatching MONDO:0001747 tibial collateral ligament bursitis skos:exactMatch UMLS:C0158315 semapv:UnspecifiedMatching MONDO:0001748 maxillary sinus carcinoma skos:exactMatch DOID:1357 maxillary sinus cancer semapv:UnspecifiedMatching MONDO:0001748 maxillary sinus carcinoma skos:exactMatch MEDGEN:196632 semapv:UnspecifiedMatching MONDO:0001748 maxillary sinus carcinoma skos:exactMatch NCIT:C3540 Malignant Maxillary Sinus Neoplasm semapv:UnspecifiedMatching MONDO:0001748 maxillary sinus carcinoma skos:exactMatch NCIT:C9332 Maxillary Sinus Carcinoma semapv:UnspecifiedMatching MONDO:0001748 maxillary sinus carcinoma skos:exactMatch SCTID:363425008 semapv:UnspecifiedMatching MONDO:0001748 maxillary sinus carcinoma skos:exactMatch UMLS:C0740487 semapv:UnspecifiedMatching MONDO:0001749 cortical senile cataract skos:exactMatch DOID:13574 cortical senile cataract semapv:UnspecifiedMatching MONDO:0001749 cortical senile cataract skos:exactMatch MEDGEN:509748 semapv:UnspecifiedMatching MONDO:0001749 cortical senile cataract skos:exactMatch SCTID:78875003 semapv:UnspecifiedMatching MONDO:0001749 cortical senile cataract skos:exactMatch UMLS:C0154980 semapv:UnspecifiedMatching MONDO:0001750 non-renal secondary hyperparathyroidism skos:exactMatch DOID:13575 non-renal secondary hyperparathyroidism semapv:UnspecifiedMatching MONDO:0001750 non-renal secondary hyperparathyroidism skos:exactMatch MEDGEN:845321 semapv:UnspecifiedMatching MONDO:0001750 non-renal secondary hyperparathyroidism skos:exactMatch UMLS:C3874997 semapv:UnspecifiedMatching MONDO:0001751 cholestasis skos:exactMatch DOID:13580 cholestasis semapv:UnspecifiedMatching MONDO:0001751 cholestasis skos:exactMatch MEDGEN:925 semapv:UnspecifiedMatching MONDO:0001751 cholestasis skos:exactMatch SCTID:30144000 semapv:UnspecifiedMatching MONDO:0001751 cholestasis skos:exactMatch UMLS:C0008370 semapv:UnspecifiedMatching MONDO:0001751 cholestasis skos:exactMatch mesh:D002779 semapv:UnspecifiedMatching MONDO:0001752 alveolar periostitis skos:exactMatch DOID:13585 alveolar periostitis semapv:UnspecifiedMatching MONDO:0001752 alveolar periostitis skos:exactMatch ICD10CM:M27.3 Alveolitis of jaws semapv:UnspecifiedMatching MONDO:0001752 alveolar periostitis skos:exactMatch MEDGEN:3923 semapv:UnspecifiedMatching MONDO:0001752 alveolar periostitis skos:exactMatch SCTID:61804006 semapv:UnspecifiedMatching MONDO:0001752 alveolar periostitis skos:exactMatch UMLS:C0013240 semapv:UnspecifiedMatching MONDO:0001752 alveolar periostitis skos:exactMatch mesh:D004368 semapv:UnspecifiedMatching MONDO:0001753 female infertility of uterine origin skos:exactMatch DOID:13589 female infertility of uterine origin semapv:UnspecifiedMatching MONDO:0001753 female infertility of uterine origin skos:exactMatch ICD10CM:N97.2 Female infertility of uterine origin semapv:UnspecifiedMatching MONDO:0001753 female infertility of uterine origin skos:exactMatch MEDGEN:510285 semapv:UnspecifiedMatching MONDO:0001753 female infertility of uterine origin skos:exactMatch SCTID:26899006 semapv:UnspecifiedMatching MONDO:0001753 female infertility of uterine origin skos:exactMatch UMLS:C0156416 semapv:UnspecifiedMatching MONDO:0001754 eclampsia skos:exactMatch DOID:13593 eclampsia semapv:UnspecifiedMatching MONDO:0001754 eclampsia skos:exactMatch ICD10CM:O15 Eclampsia semapv:UnspecifiedMatching MONDO:0001754 eclampsia skos:exactMatch ICD10WHO:O15 Eclampsia semapv:UnspecifiedMatching MONDO:0001754 eclampsia skos:exactMatch MEDGEN:4443 semapv:UnspecifiedMatching MONDO:0001754 eclampsia skos:exactMatch NCIT:C87167 Eclampsia semapv:UnspecifiedMatching MONDO:0001754 eclampsia skos:exactMatch SCTID:303063000 semapv:UnspecifiedMatching MONDO:0001754 eclampsia skos:exactMatch UMLS:C0013537 semapv:UnspecifiedMatching MONDO:0001754 eclampsia skos:exactMatch icd11.foundation:1759760659 Eclampsia semapv:UnspecifiedMatching MONDO:0001754 eclampsia skos:exactMatch mesh:D004461 semapv:UnspecifiedMatching MONDO:0001756 frontal sinus cancer skos:exactMatch DOID:1360 frontal sinus cancer semapv:UnspecifiedMatching MONDO:0001756 frontal sinus cancer skos:exactMatch ICD10CM:C31.2 Malignant neoplasm of frontal sinus semapv:UnspecifiedMatching MONDO:0001756 frontal sinus cancer skos:exactMatch MEDGEN:57786 semapv:UnspecifiedMatching MONDO:0001756 frontal sinus cancer skos:exactMatch NCIT:C3542 Malignant Frontal Sinus Neoplasm semapv:UnspecifiedMatching MONDO:0001756 frontal sinus cancer skos:exactMatch SCTID:363427000 semapv:UnspecifiedMatching MONDO:0001756 frontal sinus cancer skos:exactMatch UMLS:C0153478 semapv:UnspecifiedMatching MONDO:0001757 frontal sinus neoplasm skos:exactMatch DOID:1361 frontal sinus benign neoplasm semapv:UnspecifiedMatching MONDO:0001757 frontal sinus neoplasm skos:exactMatch MEDGEN:91051 semapv:UnspecifiedMatching MONDO:0001757 frontal sinus neoplasm skos:exactMatch NCIT:C4419 Frontal Sinus Neoplasm semapv:UnspecifiedMatching MONDO:0001757 frontal sinus neoplasm skos:exactMatch SCTID:126678005 semapv:UnspecifiedMatching MONDO:0001757 frontal sinus neoplasm skos:exactMatch UMLS:C0345672 semapv:UnspecifiedMatching MONDO:0001758 paranasal sinus sarcoma skos:exactMatch DOID:1362 paranasal sinus sarcoma semapv:UnspecifiedMatching MONDO:0001758 paranasal sinus sarcoma skos:exactMatch MEDGEN:233842 semapv:UnspecifiedMatching MONDO:0001758 paranasal sinus sarcoma skos:exactMatch NCIT:C6849 Paranasal Sinus Sarcoma semapv:UnspecifiedMatching MONDO:0001758 paranasal sinus sarcoma skos:exactMatch UMLS:C1335342 semapv:UnspecifiedMatching MONDO:0001760 photokeratitis skos:exactMatch DOID:13626 photokeratitis semapv:UnspecifiedMatching MONDO:0001760 photokeratitis skos:exactMatch ICD10CM:H16.13 Photokeratitis semapv:UnspecifiedMatching MONDO:0001760 photokeratitis skos:exactMatch MEDGEN:509774 semapv:UnspecifiedMatching MONDO:0001760 photokeratitis skos:exactMatch NCIT:C118750 Photokeratitis semapv:UnspecifiedMatching MONDO:0001760 photokeratitis skos:exactMatch SCTID:1714005 semapv:UnspecifiedMatching MONDO:0001760 photokeratitis skos:exactMatch UMLS:C0155078 semapv:UnspecifiedMatching MONDO:0001760 photokeratitis skos:exactMatch icd11.foundation:1566990302 Photokeratitis semapv:UnspecifiedMatching MONDO:0001761 favism skos:exactMatch DOID:13628 favism semapv:UnspecifiedMatching MONDO:0001761 favism skos:exactMatch MEDGEN:4667 semapv:UnspecifiedMatching MONDO:0001761 favism skos:exactMatch NCIT:C34607 Favism semapv:UnspecifiedMatching MONDO:0001761 favism skos:exactMatch SCTID:191172001 semapv:UnspecifiedMatching MONDO:0001761 favism skos:exactMatch UMLS:C0015702 semapv:UnspecifiedMatching MONDO:0001761 favism skos:exactMatch mesh:D005236 semapv:UnspecifiedMatching MONDO:0001762 dentine erosion skos:exactMatch DOID:13629 dentine erosion semapv:UnspecifiedMatching MONDO:0001762 dentine erosion skos:exactMatch MEDGEN:1843465 semapv:UnspecifiedMatching MONDO:0001762 dentine erosion skos:exactMatch UMLS:C1456162 semapv:UnspecifiedMatching MONDO:0001763 ethmoid sinus cancer skos:exactMatch DOID:1363 ethmoid sinus cancer semapv:UnspecifiedMatching MONDO:0001763 ethmoid sinus cancer skos:exactMatch ICD10CM:C31.1 Malignant neoplasm of ethmoidal sinus semapv:UnspecifiedMatching MONDO:0001763 ethmoid sinus cancer skos:exactMatch MEDGEN:102272 semapv:UnspecifiedMatching MONDO:0001763 ethmoid sinus cancer skos:exactMatch NCIT:C3541 Malignant Ethmoid Sinus Neoplasm semapv:UnspecifiedMatching MONDO:0001763 ethmoid sinus cancer skos:exactMatch SCTID:363426009 semapv:UnspecifiedMatching MONDO:0001763 ethmoid sinus cancer skos:exactMatch UMLS:C0153477 semapv:UnspecifiedMatching MONDO:0001764 ethmoidal sinus neoplasm skos:exactMatch DOID:1364 ethmoidal sinus benign neoplasm semapv:UnspecifiedMatching MONDO:0001764 ethmoidal sinus neoplasm skos:exactMatch MEDGEN:83386 semapv:UnspecifiedMatching MONDO:0001764 ethmoidal sinus neoplasm skos:exactMatch NCIT:C4416 Ethmoid Sinus Neoplasm semapv:UnspecifiedMatching MONDO:0001764 ethmoidal sinus neoplasm skos:exactMatch SCTID:126677000 semapv:UnspecifiedMatching MONDO:0001764 ethmoidal sinus neoplasm skos:exactMatch UMLS:C0345668 semapv:UnspecifiedMatching MONDO:0001765 polyneuropathy in collagen vascular disease skos:exactMatch DOID:13649 polyneuropathy in collagen vascular disease semapv:UnspecifiedMatching MONDO:0001765 polyneuropathy in collagen vascular disease skos:exactMatch MEDGEN:509648 semapv:UnspecifiedMatching MONDO:0001765 polyneuropathy in collagen vascular disease skos:exactMatch SCTID:193177003 semapv:UnspecifiedMatching MONDO:0001765 polyneuropathy in collagen vascular disease skos:exactMatch UMLS:C0154759 semapv:UnspecifiedMatching MONDO:0001766 eversion of lacrimal punctum skos:exactMatch DOID:13651 eversion of lacrimal punctum semapv:UnspecifiedMatching MONDO:0001766 eversion of lacrimal punctum skos:exactMatch ICD10CM:H04.52 Eversion of lacrimal punctum semapv:UnspecifiedMatching MONDO:0001766 eversion of lacrimal punctum skos:exactMatch MEDGEN:509868 semapv:UnspecifiedMatching MONDO:0001766 eversion of lacrimal punctum skos:exactMatch SCTID:28244003 semapv:UnspecifiedMatching MONDO:0001766 eversion of lacrimal punctum skos:exactMatch UMLS:C0155243 semapv:UnspecifiedMatching MONDO:0001766 eversion of lacrimal punctum skos:exactMatch icd11.foundation:129526571 Eversion of lacrimal punctum semapv:UnspecifiedMatching MONDO:0001767 stenosis of lacrimal punctum skos:exactMatch DOID:13653 stenosis of lacrimal punctum semapv:UnspecifiedMatching MONDO:0001767 stenosis of lacrimal punctum skos:exactMatch ICD10CM:H04.56 Stenosis of lacrimal punctum semapv:UnspecifiedMatching MONDO:0001767 stenosis of lacrimal punctum skos:exactMatch MEDGEN:509869 semapv:UnspecifiedMatching MONDO:0001767 stenosis of lacrimal punctum skos:exactMatch SCTID:74783009 semapv:UnspecifiedMatching MONDO:0001767 stenosis of lacrimal punctum skos:exactMatch UMLS:C0155244 semapv:UnspecifiedMatching MONDO:0001768 stenosis of lacrimal passage skos:exactMatch DOID:13654 stenosis of lacrimal passage semapv:UnspecifiedMatching MONDO:0001768 stenosis of lacrimal passage skos:exactMatch MEDGEN:509870 semapv:UnspecifiedMatching MONDO:0001768 stenosis of lacrimal passage skos:exactMatch SCTID:81345003 semapv:UnspecifiedMatching MONDO:0001768 stenosis of lacrimal passage skos:exactMatch UMLS:C0155245 semapv:UnspecifiedMatching MONDO:0001769 acquired tear duct stenosis skos:exactMatch DOID:13655 acquired tear duct stenosis semapv:UnspecifiedMatching MONDO:0001769 acquired tear duct stenosis skos:exactMatch ICD10CM:H04.55 Acquired stenosis of nasolacrimal duct semapv:UnspecifiedMatching MONDO:0001769 acquired tear duct stenosis skos:exactMatch MEDGEN:509872 semapv:UnspecifiedMatching MONDO:0001769 acquired tear duct stenosis skos:exactMatch SCTID:193995004 semapv:UnspecifiedMatching MONDO:0001769 acquired tear duct stenosis skos:exactMatch UMLS:C0155248 semapv:UnspecifiedMatching MONDO:0001770 gastrin secretion abnormality skos:exactMatch DOID:13656 gastrin secretion abnormality semapv:UnspecifiedMatching MONDO:0001770 gastrin secretion abnormality skos:exactMatch MEDGEN:507382 semapv:UnspecifiedMatching MONDO:0001770 gastrin secretion abnormality skos:exactMatch SCTID:47344007 semapv:UnspecifiedMatching MONDO:0001770 gastrin secretion abnormality skos:exactMatch UMLS:C0000774 semapv:UnspecifiedMatching MONDO:0001771 infective urethral stricture skos:exactMatch DOID:13658 infective urethral stricture semapv:UnspecifiedMatching MONDO:0001771 infective urethral stricture skos:exactMatch MEDGEN:588592 semapv:UnspecifiedMatching MONDO:0001771 infective urethral stricture skos:exactMatch SCTID:80375002 semapv:UnspecifiedMatching MONDO:0001771 infective urethral stricture skos:exactMatch UMLS:C0403696 semapv:UnspecifiedMatching MONDO:0001772 ulcer of anus and rectum skos:exactMatch DOID:13662 ulcer of anus and rectum semapv:UnspecifiedMatching MONDO:0001772 ulcer of anus and rectum skos:exactMatch ICD10CM:K62.6 Ulcer of anus and rectum semapv:UnspecifiedMatching MONDO:0001772 ulcer of anus and rectum skos:exactMatch MEDGEN:1843457 semapv:UnspecifiedMatching MONDO:0001772 ulcer of anus and rectum skos:exactMatch UMLS:C0400832 semapv:UnspecifiedMatching MONDO:0001773 post-vaccinal encephalitis skos:exactMatch DOID:13664 post-vaccinal encephalitis semapv:UnspecifiedMatching MONDO:0001773 post-vaccinal encephalitis skos:exactMatch MEDGEN:152946 semapv:UnspecifiedMatching MONDO:0001773 post-vaccinal encephalitis skos:exactMatch SCTID:31367003 semapv:UnspecifiedMatching MONDO:0001773 post-vaccinal encephalitis skos:exactMatch UMLS:C0751101 semapv:UnspecifiedMatching MONDO:0001774 posterior scleritis skos:exactMatch DOID:13676 posterior scleritis semapv:UnspecifiedMatching MONDO:0001774 posterior scleritis skos:exactMatch ICD10CM:H15.03 Posterior scleritis semapv:UnspecifiedMatching MONDO:0001774 posterior scleritis skos:exactMatch MEDGEN:509932 semapv:UnspecifiedMatching MONDO:0001774 posterior scleritis skos:exactMatch SCTID:267660007 semapv:UnspecifiedMatching MONDO:0001774 posterior scleritis skos:exactMatch UMLS:C0155357 semapv:UnspecifiedMatching MONDO:0001774 posterior scleritis skos:exactMatch icd11.foundation:982348440 Posterior scleritis semapv:UnspecifiedMatching MONDO:0001775 chronic duodenal ileus skos:exactMatch DOID:13687 chronic duodenal ileus semapv:UnspecifiedMatching MONDO:0001775 chronic duodenal ileus skos:exactMatch MEDGEN:510177 semapv:UnspecifiedMatching MONDO:0001775 chronic duodenal ileus skos:exactMatch SCTID:52232007 semapv:UnspecifiedMatching MONDO:0001775 chronic duodenal ileus skos:exactMatch UMLS:C0156087 semapv:UnspecifiedMatching MONDO:0001775 chronic duodenal ileus skos:exactMatch icd11.foundation:379824638 Chronic duodenal ileus semapv:UnspecifiedMatching MONDO:0001776 prostate calculus skos:exactMatch DOID:13689 prostate calculus semapv:UnspecifiedMatching MONDO:0001776 prostate calculus skos:exactMatch ICD10CM:N42.0 Calculus of prostate semapv:UnspecifiedMatching MONDO:0001776 prostate calculus skos:exactMatch MEDGEN:57431 semapv:UnspecifiedMatching MONDO:0001776 prostate calculus skos:exactMatch SCTID:85324003 semapv:UnspecifiedMatching MONDO:0001776 prostate calculus skos:exactMatch UMLS:C0149525 semapv:UnspecifiedMatching MONDO:0001777 acute gonococcal cystitis skos:exactMatch DOID:13690 acute gonococcal cystitis semapv:UnspecifiedMatching MONDO:0001777 acute gonococcal cystitis skos:exactMatch MEDGEN:509193 semapv:UnspecifiedMatching MONDO:0001777 acute gonococcal cystitis skos:exactMatch SCTID:24868007 semapv:UnspecifiedMatching MONDO:0001777 acute gonococcal cystitis skos:exactMatch UMLS:C0153191 semapv:UnspecifiedMatching MONDO:0001778 dermoid cyst of skin skos:exactMatch DOID:13691 dermoid cyst of skin semapv:UnspecifiedMatching MONDO:0001778 dermoid cyst of skin skos:exactMatch MEDGEN:91148 semapv:UnspecifiedMatching MONDO:0001778 dermoid cyst of skin skos:exactMatch NCIT:C4632 Skin Dermoid Cyst semapv:UnspecifiedMatching MONDO:0001778 dermoid cyst of skin skos:exactMatch SCTID:276729007 semapv:UnspecifiedMatching MONDO:0001778 dermoid cyst of skin skos:exactMatch UMLS:C0349502 semapv:UnspecifiedMatching MONDO:0001779 vaginal squamous papilloma skos:exactMatch DOID:137 vaginal squamous papilloma semapv:UnspecifiedMatching MONDO:0001779 vaginal squamous papilloma skos:exactMatch MEDGEN:234983 semapv:UnspecifiedMatching MONDO:0001779 vaginal squamous papilloma skos:exactMatch NCIT:C6374 Vaginal Squamous Papilloma semapv:UnspecifiedMatching MONDO:0001779 vaginal squamous papilloma skos:exactMatch UMLS:C1336943 semapv:UnspecifiedMatching MONDO:0001780 premature ejaculation skos:exactMatch DOID:13709 premature ejaculation semapv:UnspecifiedMatching MONDO:0001780 premature ejaculation skos:exactMatch ICD10CM:F52.4 Premature ejaculation semapv:UnspecifiedMatching MONDO:0001780 premature ejaculation skos:exactMatch MEDGEN:452112 semapv:UnspecifiedMatching MONDO:0001780 premature ejaculation skos:exactMatch NCIT:C94349 Premature Ejaculation semapv:UnspecifiedMatching MONDO:0001780 premature ejaculation skos:exactMatch UMLS:C0033038 semapv:UnspecifiedMatching MONDO:0001780 premature ejaculation skos:exactMatch mesh:D061686 semapv:UnspecifiedMatching MONDO:0001781 uterine corpus adenomatoid tumor skos:exactMatch DOID:1371 uterine corpus adenomatoid tumor semapv:UnspecifiedMatching MONDO:0001781 uterine corpus adenomatoid tumor skos:exactMatch MEDGEN:234464 semapv:UnspecifiedMatching MONDO:0001781 uterine corpus adenomatoid tumor skos:exactMatch NCIT:C27250 Uterine Corpus Adenomatoid Tumor semapv:UnspecifiedMatching MONDO:0001781 uterine corpus adenomatoid tumor skos:exactMatch UMLS:C1336902 semapv:UnspecifiedMatching MONDO:0001782 mature cataract skos:exactMatch DOID:13717 mature cataract semapv:UnspecifiedMatching MONDO:0001782 mature cataract skos:exactMatch MEDGEN:784053 semapv:UnspecifiedMatching MONDO:0001782 mature cataract skos:exactMatch SCTID:849000 semapv:UnspecifiedMatching MONDO:0001782 mature cataract skos:exactMatch UMLS:C3665439 semapv:UnspecifiedMatching MONDO:0001783 endometrial stromal nodule skos:exactMatch DOID:1373 endometrial stromal nodule semapv:UnspecifiedMatching MONDO:0001783 endometrial stromal nodule skos:exactMatch MEDGEN:924530 semapv:UnspecifiedMatching MONDO:0001783 endometrial stromal nodule skos:exactMatch NCIT:C4262 Endometrial Stromal Nodule semapv:UnspecifiedMatching MONDO:0001783 endometrial stromal nodule skos:exactMatch SCTID:721571001 semapv:UnspecifiedMatching MONDO:0001783 endometrial stromal nodule skos:exactMatch UMLS:C4284031 semapv:UnspecifiedMatching MONDO:0001784 malignant renovascular hypertension skos:exactMatch DOID:13730 malignant renovascular hypertension semapv:UnspecifiedMatching MONDO:0001784 malignant renovascular hypertension skos:exactMatch MEDGEN:538723 semapv:UnspecifiedMatching MONDO:0001784 malignant renovascular hypertension skos:exactMatch UMLS:C0264643 semapv:UnspecifiedMatching MONDO:0001784 malignant renovascular hypertension skos:exactMatch icd11.foundation:1402842599 Malignant renovascular hypertension semapv:UnspecifiedMatching MONDO:0001785 malignant secondary hypertension skos:exactMatch DOID:13731 malignant secondary hypertension semapv:UnspecifiedMatching MONDO:0001785 malignant secondary hypertension skos:exactMatch MEDGEN:510039 semapv:UnspecifiedMatching MONDO:0001785 malignant secondary hypertension skos:exactMatch SCTID:89242004 semapv:UnspecifiedMatching MONDO:0001785 malignant secondary hypertension skos:exactMatch UMLS:C0155617 semapv:UnspecifiedMatching MONDO:0001786 uterine inflammatory disease skos:exactMatch DOID:13736 uterine inflammatory disease semapv:UnspecifiedMatching MONDO:0001786 uterine inflammatory disease skos:exactMatch EFO:0009572 semapv:UnspecifiedMatching MONDO:0001786 uterine inflammatory disease skos:exactMatch MEDGEN:541692 semapv:UnspecifiedMatching MONDO:0001786 uterine inflammatory disease skos:exactMatch SCTID:28783002 semapv:UnspecifiedMatching MONDO:0001786 uterine inflammatory disease skos:exactMatch UMLS:C0269047 semapv:UnspecifiedMatching MONDO:0001787 hepatic infarction skos:exactMatch DOID:13738 hepatic infarction semapv:UnspecifiedMatching MONDO:0001787 hepatic infarction skos:exactMatch MEDGEN:508812 semapv:UnspecifiedMatching MONDO:0001787 hepatic infarction skos:exactMatch SCTID:17890003 semapv:UnspecifiedMatching MONDO:0001787 hepatic infarction skos:exactMatch UMLS:C0151731 semapv:UnspecifiedMatching MONDO:0001787 hepatic infarction skos:exactMatch icd11.foundation:1003389114 Infarction of liver semapv:UnspecifiedMatching MONDO:0001787 hepatic infarction skos:exactMatch mesh:D000081011 semapv:UnspecifiedMatching MONDO:0001788 nutmeg liver skos:exactMatch DOID:13739 nutmeg liver semapv:UnspecifiedMatching MONDO:0001788 nutmeg liver skos:exactMatch ICD10CM:K76.1 Chronic passive congestion of liver semapv:UnspecifiedMatching MONDO:0001788 nutmeg liver skos:exactMatch MEDGEN:510207 semapv:UnspecifiedMatching MONDO:0001788 nutmeg liver skos:exactMatch SCTID:34736002 semapv:UnspecifiedMatching MONDO:0001788 nutmeg liver skos:exactMatch UMLS:C0156195 semapv:UnspecifiedMatching MONDO:0001788 nutmeg liver skos:exactMatch icd11.foundation:707272147 Chronic passive congestion of liver semapv:UnspecifiedMatching MONDO:0001789 neurofibroma of spinal cord skos:exactMatch DOID:13742 neurofibroma of spinal cord semapv:UnspecifiedMatching MONDO:0001789 neurofibroma of spinal cord skos:exactMatch MEDGEN:234804 semapv:UnspecifiedMatching MONDO:0001789 neurofibroma of spinal cord skos:exactMatch NCIT:C5145 Spinal Cord Neurofibroma semapv:UnspecifiedMatching MONDO:0001789 neurofibroma of spinal cord skos:exactMatch UMLS:C1336047 semapv:UnspecifiedMatching MONDO:0001790 spinal cord lipoma skos:exactMatch DOID:13743 spinal cord lipoma semapv:UnspecifiedMatching MONDO:0001790 spinal cord lipoma skos:exactMatch MEDGEN:91131 semapv:UnspecifiedMatching MONDO:0001790 spinal cord lipoma skos:exactMatch NCIT:C4619 Spinal Cord Lipoma semapv:UnspecifiedMatching MONDO:0001790 spinal cord lipoma skos:exactMatch Orphanet:645276 Spinal cord lipoma semapv:UnspecifiedMatching MONDO:0001790 spinal cord lipoma skos:exactMatch SCTID:189017000 semapv:UnspecifiedMatching MONDO:0001790 spinal cord lipoma skos:exactMatch UMLS:C0347446 semapv:UnspecifiedMatching MONDO:0001791 neonatal urinary tract infectious disease skos:exactMatch DOID:1375 neonatal urinary tract infectious disease semapv:UnspecifiedMatching MONDO:0001791 neonatal urinary tract infectious disease skos:exactMatch MEDGEN:536451 semapv:UnspecifiedMatching MONDO:0001791 neonatal urinary tract infectious disease skos:exactMatch SCTID:12301009 semapv:UnspecifiedMatching MONDO:0001791 neonatal urinary tract infectious disease skos:exactMatch UMLS:C0235815 semapv:UnspecifiedMatching MONDO:0001792 epiphora due to insufficient drainage skos:exactMatch DOID:13756 epiphora due to insufficient drainage semapv:UnspecifiedMatching MONDO:0001792 epiphora due to insufficient drainage skos:exactMatch ICD10CM:H04.22 Epiphora due to insufficient drainage semapv:UnspecifiedMatching MONDO:0001792 epiphora due to insufficient drainage skos:exactMatch MEDGEN:509862 semapv:UnspecifiedMatching MONDO:0001792 epiphora due to insufficient drainage skos:exactMatch SCTID:85042000 semapv:UnspecifiedMatching MONDO:0001792 epiphora due to insufficient drainage skos:exactMatch UMLS:C0155234 semapv:UnspecifiedMatching MONDO:0001792 epiphora due to insufficient drainage skos:exactMatch icd11.foundation:2073269541 Epiphora due to insufficient drainage semapv:UnspecifiedMatching MONDO:0001793 excessive tearing skos:exactMatch DOID:13757 excessive tearing semapv:UnspecifiedMatching MONDO:0001793 excessive tearing skos:exactMatch ICD10CM:H04.2 Epiphora semapv:UnspecifiedMatching MONDO:0001793 excessive tearing skos:exactMatch MEDGEN:57518 semapv:UnspecifiedMatching MONDO:0001793 excessive tearing skos:exactMatch SCTID:193982009 semapv:UnspecifiedMatching MONDO:0001793 excessive tearing skos:exactMatch UMLS:C0152227 semapv:UnspecifiedMatching MONDO:0001794 Pthirus pubis infestation skos:exactMatch DOID:13760 Pthirus pubis infestation semapv:UnspecifiedMatching MONDO:0001794 Pthirus pubis infestation skos:exactMatch ICD10CM:B85.3 Phthiriasis semapv:UnspecifiedMatching MONDO:0001794 Pthirus pubis infestation skos:exactMatch MEDGEN:10616 semapv:UnspecifiedMatching MONDO:0001794 Pthirus pubis infestation skos:exactMatch NCIT:C35777 Pediculosis Pubis semapv:UnspecifiedMatching MONDO:0001794 Pthirus pubis infestation skos:exactMatch SCTID:71011005 semapv:UnspecifiedMatching MONDO:0001794 Pthirus pubis infestation skos:exactMatch UMLS:C0030759 semapv:UnspecifiedMatching MONDO:0001795 plantar wart skos:exactMatch DOID:13775 plantar wart semapv:UnspecifiedMatching MONDO:0001795 plantar wart skos:exactMatch EFO:1002023 semapv:UnspecifiedMatching MONDO:0001795 plantar wart skos:exactMatch ICD10CM:B07.0 Plantar wart semapv:UnspecifiedMatching MONDO:0001795 plantar wart skos:exactMatch MEDGEN:53003 semapv:UnspecifiedMatching MONDO:0001795 plantar wart skos:exactMatch NCIT:C26913 Verruca Plantaris semapv:UnspecifiedMatching MONDO:0001795 plantar wart skos:exactMatch SCTID:63440008 semapv:UnspecifiedMatching MONDO:0001795 plantar wart skos:exactMatch UMLS:C0042548 semapv:UnspecifiedMatching MONDO:0001797 chancroid skos:exactMatch DOID:13778 chancroid semapv:UnspecifiedMatching MONDO:0001797 chancroid skos:exactMatch ICD10CM:A57 Chancroid semapv:UnspecifiedMatching MONDO:0001797 chancroid skos:exactMatch ICD10WHO:A57 Chancroid semapv:UnspecifiedMatching MONDO:0001797 chancroid skos:exactMatch MEDGEN:872 semapv:UnspecifiedMatching MONDO:0001797 chancroid skos:exactMatch SCTID:266143009 semapv:UnspecifiedMatching MONDO:0001797 chancroid skos:exactMatch UMLS:C0007947 semapv:UnspecifiedMatching MONDO:0001797 chancroid skos:exactMatch icd11.foundation:1357024926 Chancroid semapv:UnspecifiedMatching MONDO:0001797 chancroid skos:exactMatch mesh:D002602 semapv:UnspecifiedMatching MONDO:0001798 hypermobility syndrome skos:exactMatch DOID:13781 hypermobility syndrome semapv:UnspecifiedMatching MONDO:0001798 hypermobility syndrome skos:exactMatch ICD10CM:M35.7 Hypermobility syndrome semapv:UnspecifiedMatching MONDO:0001798 hypermobility syndrome skos:exactMatch MEDGEN:508885 semapv:UnspecifiedMatching MONDO:0001798 hypermobility syndrome skos:exactMatch SCTID:85551004 semapv:UnspecifiedMatching MONDO:0001798 hypermobility syndrome skos:exactMatch UMLS:C0152093 semapv:UnspecifiedMatching MONDO:0001799 localized anterior staphyloma skos:exactMatch DOID:13787 localized anterior staphyloma semapv:UnspecifiedMatching MONDO:0001799 localized anterior staphyloma skos:exactMatch ICD10CM:H15.82 Localized anterior staphyloma semapv:UnspecifiedMatching MONDO:0001799 localized anterior staphyloma skos:exactMatch MEDGEN:509936 semapv:UnspecifiedMatching MONDO:0001799 localized anterior staphyloma skos:exactMatch SCTID:21946002 semapv:UnspecifiedMatching MONDO:0001799 localized anterior staphyloma skos:exactMatch UMLS:C0155362 semapv:UnspecifiedMatching MONDO:0001800 equatorial staphyloma skos:exactMatch DOID:13788 equatorial staphyloma semapv:UnspecifiedMatching MONDO:0001800 equatorial staphyloma skos:exactMatch ICD10CM:H15.81 Equatorial staphyloma semapv:UnspecifiedMatching MONDO:0001800 equatorial staphyloma skos:exactMatch MEDGEN:509935 semapv:UnspecifiedMatching MONDO:0001800 equatorial staphyloma skos:exactMatch SCTID:82146006 semapv:UnspecifiedMatching MONDO:0001800 equatorial staphyloma skos:exactMatch UMLS:C0155361 semapv:UnspecifiedMatching MONDO:0001800 equatorial staphyloma skos:exactMatch icd11.foundation:120412682 Equatorial staphyloma semapv:UnspecifiedMatching MONDO:0001801 staphyloma posticum skos:exactMatch DOID:13789 staphyloma posticum semapv:UnspecifiedMatching MONDO:0001801 staphyloma posticum skos:exactMatch ICD10CM:H15.83 Staphyloma posticum semapv:UnspecifiedMatching MONDO:0001801 staphyloma posticum skos:exactMatch MEDGEN:509934 semapv:UnspecifiedMatching MONDO:0001801 staphyloma posticum skos:exactMatch SCTID:87819007 semapv:UnspecifiedMatching MONDO:0001801 staphyloma posticum skos:exactMatch UMLS:C0155360 semapv:UnspecifiedMatching MONDO:0001801 staphyloma posticum skos:exactMatch icd11.foundation:382453603 Staphyloma posticum semapv:UnspecifiedMatching MONDO:0001802 acute tympanitis skos:exactMatch DOID:13790 acute tympanitis semapv:UnspecifiedMatching MONDO:0001802 acute tympanitis skos:exactMatch ICD10CM:H73.0 Acute myringitis semapv:UnspecifiedMatching MONDO:0001802 acute tympanitis skos:exactMatch MEDGEN:509976 semapv:UnspecifiedMatching MONDO:0001802 acute tympanitis skos:exactMatch SCTID:297009 semapv:UnspecifiedMatching MONDO:0001802 acute tympanitis skos:exactMatch UMLS:C0155460 semapv:UnspecifiedMatching MONDO:0001803 myringitis bullosa hemorrhagica skos:exactMatch DOID:13791 myringitis bullosa hemorrhagica semapv:UnspecifiedMatching MONDO:0001803 myringitis bullosa hemorrhagica skos:exactMatch ICD10CM:H73.01 Bullous myringitis semapv:UnspecifiedMatching MONDO:0001803 myringitis bullosa hemorrhagica skos:exactMatch MEDGEN:509977 semapv:UnspecifiedMatching MONDO:0001803 myringitis bullosa hemorrhagica skos:exactMatch SCTID:33528003 semapv:UnspecifiedMatching MONDO:0001803 myringitis bullosa hemorrhagica skos:exactMatch UMLS:C0155461 semapv:UnspecifiedMatching MONDO:0001804 anterior scleritis skos:exactMatch DOID:13794 anterior scleritis semapv:UnspecifiedMatching MONDO:0001804 anterior scleritis skos:exactMatch ICD10CM:H15.01 Anterior scleritis semapv:UnspecifiedMatching MONDO:0001804 anterior scleritis skos:exactMatch MEDGEN:509928 semapv:UnspecifiedMatching MONDO:0001804 anterior scleritis skos:exactMatch SCTID:63454000 semapv:UnspecifiedMatching MONDO:0001804 anterior scleritis skos:exactMatch UMLS:C0155353 semapv:UnspecifiedMatching MONDO:0001804 anterior scleritis skos:exactMatch icd11.foundation:728494077 Anterior scleritis semapv:UnspecifiedMatching MONDO:0001805 female breast central part cancer skos:exactMatch DOID:13799 female breast central part cancer semapv:UnspecifiedMatching MONDO:0001805 female breast central part cancer skos:exactMatch MEDGEN:509323 semapv:UnspecifiedMatching MONDO:0001805 female breast central part cancer skos:exactMatch SCTID:188151006 semapv:UnspecifiedMatching MONDO:0001805 female breast central part cancer skos:exactMatch UMLS:C0153549 semapv:UnspecifiedMatching MONDO:0001806 vaginal squamous tumor skos:exactMatch DOID:138 vaginal squamous tumor semapv:UnspecifiedMatching MONDO:0001806 vaginal squamous tumor skos:exactMatch MEDGEN:274381 semapv:UnspecifiedMatching MONDO:0001806 vaginal squamous tumor skos:exactMatch NCIT:C40242 Vaginal Squamous Neoplasm semapv:UnspecifiedMatching MONDO:0001806 vaginal squamous tumor skos:exactMatch UMLS:C1519931 semapv:UnspecifiedMatching MONDO:0001807 obsolete familial combined hyperlipidemia skos:exactMatch DOID:13809 familial combined hyperlipidemia semapv:UnspecifiedMatching MONDO:0001807 obsolete familial combined hyperlipidemia skos:exactMatch Orphanet:79211 OBSOLETE: Combined hyperlipidemia semapv:UnspecifiedMatching MONDO:0001807 obsolete familial combined hyperlipidemia skos:exactMatch SCTID:238040008 semapv:UnspecifiedMatching MONDO:0001807 obsolete familial combined hyperlipidemia skos:exactMatch mesh:D006950 semapv:UnspecifiedMatching MONDO:0001808 chronic subinvolution of uterus skos:exactMatch DOID:13811 chronic subinvolution of uterus semapv:UnspecifiedMatching MONDO:0001808 chronic subinvolution of uterus skos:exactMatch MEDGEN:510263 semapv:UnspecifiedMatching MONDO:0001808 chronic subinvolution of uterus skos:exactMatch SCTID:198315005 semapv:UnspecifiedMatching MONDO:0001808 chronic subinvolution of uterus skos:exactMatch UMLS:C0156370 semapv:UnspecifiedMatching MONDO:0001809 adhesions of uterus skos:exactMatch DOID:13812 adhesions of uterus semapv:UnspecifiedMatching MONDO:0001809 adhesions of uterus skos:exactMatch MEDGEN:537073 semapv:UnspecifiedMatching MONDO:0001809 adhesions of uterus skos:exactMatch SCTID:361115000 semapv:UnspecifiedMatching MONDO:0001809 adhesions of uterus skos:exactMatch UMLS:C0241593 semapv:UnspecifiedMatching MONDO:0001810 hypoglossal nerve disorder skos:exactMatch DOID:13814 hypoglossal nerve disease semapv:UnspecifiedMatching MONDO:0001810 hypoglossal nerve disorder skos:exactMatch MEDGEN:57513 semapv:UnspecifiedMatching MONDO:0001810 hypoglossal nerve disorder skos:exactMatch NCIT:C26954 Hypoglossal Nerve Disorder semapv:UnspecifiedMatching MONDO:0001810 hypoglossal nerve disorder skos:exactMatch SCTID:24777009 semapv:UnspecifiedMatching MONDO:0001810 hypoglossal nerve disorder skos:exactMatch UMLS:C0152181 semapv:UnspecifiedMatching MONDO:0001810 hypoglossal nerve disorder skos:exactMatch mesh:D020437 semapv:UnspecifiedMatching MONDO:0001811 tetanic cataract skos:exactMatch DOID:13822 tetanic cataract semapv:UnspecifiedMatching MONDO:0001811 tetanic cataract skos:exactMatch MEDGEN:52678 semapv:UnspecifiedMatching MONDO:0001811 tetanic cataract skos:exactMatch NCIT:C35068 Tetanic Cataract semapv:UnspecifiedMatching MONDO:0001811 tetanic cataract skos:exactMatch SCTID:68216000 semapv:UnspecifiedMatching MONDO:0001811 tetanic cataract skos:exactMatch UMLS:C0039613 semapv:UnspecifiedMatching MONDO:0001811 tetanic cataract skos:exactMatch icd11.foundation:2073255301 Tetanic cataract semapv:UnspecifiedMatching MONDO:0001812 parasitic eyelid infestation skos:exactMatch DOID:13823 parasitic eyelid infestation semapv:UnspecifiedMatching MONDO:0001812 parasitic eyelid infestation skos:exactMatch MEDGEN:509836 semapv:UnspecifiedMatching MONDO:0001812 parasitic eyelid infestation skos:exactMatch SCTID:193922006 semapv:UnspecifiedMatching MONDO:0001812 parasitic eyelid infestation skos:exactMatch UMLS:C0155183 semapv:UnspecifiedMatching MONDO:0001813 squamous blepharitis skos:exactMatch DOID:13825 squamous blepharitis semapv:UnspecifiedMatching MONDO:0001813 squamous blepharitis skos:exactMatch ICD10CM:H01.02 Squamous blepharitis semapv:UnspecifiedMatching MONDO:0001813 squamous blepharitis skos:exactMatch MEDGEN:509829 semapv:UnspecifiedMatching MONDO:0001813 squamous blepharitis skos:exactMatch SCTID:58912008 semapv:UnspecifiedMatching MONDO:0001813 squamous blepharitis skos:exactMatch UMLS:C0155174 semapv:UnspecifiedMatching MONDO:0001815 extrapyramidal and movement disease skos:exactMatch DOID:13839 extrapyramidal and movement disease semapv:UnspecifiedMatching MONDO:0001815 extrapyramidal and movement disease skos:exactMatch ICD10CM:G20-G26 Extrapyramidal and movement disorders (G20-G26) semapv:UnspecifiedMatching MONDO:0001815 extrapyramidal and movement disease skos:exactMatch MEDGEN:852565 semapv:UnspecifiedMatching MONDO:0001815 extrapyramidal and movement disease skos:exactMatch UMLS:C0477355 semapv:UnspecifiedMatching MONDO:0001816 scleroperikeratitis skos:exactMatch DOID:13861 scleroperikeratitis semapv:UnspecifiedMatching MONDO:0001816 scleroperikeratitis skos:exactMatch ICD10CM:H15.04 Scleritis with corneal involvement semapv:UnspecifiedMatching MONDO:0001816 scleroperikeratitis skos:exactMatch MEDGEN:509930 semapv:UnspecifiedMatching MONDO:0001816 scleroperikeratitis skos:exactMatch SCTID:42574005 semapv:UnspecifiedMatching MONDO:0001816 scleroperikeratitis skos:exactMatch UMLS:C0155355 semapv:UnspecifiedMatching MONDO:0001817 acute closed-angle glaucoma skos:exactMatch DOID:13862 acute closed-angle glaucoma semapv:UnspecifiedMatching MONDO:0001817 acute closed-angle glaucoma skos:exactMatch ICD10CM:H40.21 Acute angle-closure glaucoma semapv:UnspecifiedMatching MONDO:0001817 acute closed-angle glaucoma skos:exactMatch MEDGEN:509735 semapv:UnspecifiedMatching MONDO:0001817 acute closed-angle glaucoma skos:exactMatch SCTID:30041005 semapv:UnspecifiedMatching MONDO:0001817 acute closed-angle glaucoma skos:exactMatch UMLS:C0154946 semapv:UnspecifiedMatching MONDO:0001818 facial neuralgia skos:exactMatch DOID:13865 facial neuralgia semapv:UnspecifiedMatching MONDO:0001818 facial neuralgia skos:exactMatch EFO:0009380 semapv:UnspecifiedMatching MONDO:0001818 facial neuralgia skos:exactMatch MEDGEN:5099 semapv:UnspecifiedMatching MONDO:0001818 facial neuralgia skos:exactMatch SCTID:4151000119102 semapv:UnspecifiedMatching MONDO:0001818 facial neuralgia skos:exactMatch UMLS:C0015467 semapv:UnspecifiedMatching MONDO:0001818 facial neuralgia skos:exactMatch mesh:D005156 semapv:UnspecifiedMatching MONDO:0001819 multiple cranial nerve palsy skos:exactMatch DOID:13866 multiple cranial nerve palsy semapv:UnspecifiedMatching MONDO:0001819 multiple cranial nerve palsy skos:exactMatch MEDGEN:509636 semapv:UnspecifiedMatching MONDO:0001819 multiple cranial nerve palsy skos:exactMatch SCTID:78152008 semapv:UnspecifiedMatching MONDO:0001819 multiple cranial nerve palsy skos:exactMatch UMLS:C0154733 semapv:UnspecifiedMatching MONDO:0001820 focal labyrinthitis skos:exactMatch DOID:13867 focal labyrinthitis semapv:UnspecifiedMatching MONDO:0001820 focal labyrinthitis skos:exactMatch MEDGEN:509994 semapv:UnspecifiedMatching MONDO:0001820 focal labyrinthitis skos:exactMatch SCTID:61794006 semapv:UnspecifiedMatching MONDO:0001820 focal labyrinthitis skos:exactMatch UMLS:C0155505 semapv:UnspecifiedMatching MONDO:0001820 focal labyrinthitis skos:exactMatch icd11.foundation:1257091364 Focal labyrinthitis semapv:UnspecifiedMatching MONDO:0001821 hypoactive sexual desire disorder skos:exactMatch DOID:13868 hypoactive sexual desire disorder semapv:UnspecifiedMatching MONDO:0001821 hypoactive sexual desire disorder skos:exactMatch ICD10CM:F52.0 Hypoactive sexual desire disorder semapv:UnspecifiedMatching MONDO:0001821 hypoactive sexual desire disorder skos:exactMatch MEDGEN:43792 semapv:UnspecifiedMatching MONDO:0001821 hypoactive sexual desire disorder skos:exactMatch NCIT:C94337 Hypoactive Sexual Desire Disorder semapv:UnspecifiedMatching MONDO:0001821 hypoactive sexual desire disorder skos:exactMatch SCTID:270903007 semapv:UnspecifiedMatching MONDO:0001821 hypoactive sexual desire disorder skos:exactMatch UMLS:C0020594 semapv:UnspecifiedMatching MONDO:0001822 hypolipoproteinemia skos:exactMatch DOID:1387 hypolipoproteinemia semapv:UnspecifiedMatching MONDO:0001822 hypolipoproteinemia skos:exactMatch MEDGEN:6982 semapv:UnspecifiedMatching MONDO:0001822 hypolipoproteinemia skos:exactMatch SCTID:363140000 semapv:UnspecifiedMatching MONDO:0001822 hypolipoproteinemia skos:exactMatch UMLS:C0020623 semapv:UnspecifiedMatching MONDO:0001822 hypolipoproteinemia skos:exactMatch mesh:D007009 semapv:UnspecifiedMatching MONDO:0001823 sick sinus syndrome skos:exactMatch DOID:13884 sick sinus syndrome semapv:UnspecifiedMatching MONDO:0001823 sick sinus syndrome skos:exactMatch ICD10CM:I49.5 Sick sinus syndrome semapv:UnspecifiedMatching MONDO:0001823 sick sinus syndrome skos:exactMatch MEDGEN:20749 semapv:UnspecifiedMatching MONDO:0001823 sick sinus syndrome skos:exactMatch NCIT:C62244 Sick Sinus Syndrome semapv:UnspecifiedMatching MONDO:0001823 sick sinus syndrome skos:exactMatch SCTID:36083008 semapv:UnspecifiedMatching MONDO:0001823 sick sinus syndrome skos:exactMatch UMLS:C0037052 semapv:UnspecifiedMatching MONDO:0001823 sick sinus syndrome skos:exactMatch icd11.foundation:1682594333 Sick sinus syndrome semapv:UnspecifiedMatching MONDO:0001823 sick sinus syndrome skos:exactMatch mesh:D012804 semapv:UnspecifiedMatching MONDO:0001824 polyneuropathy skos:exactMatch DOID:1389 polyneuropathy semapv:UnspecifiedMatching MONDO:0001824 polyneuropathy skos:exactMatch EFO:0009562 semapv:UnspecifiedMatching MONDO:0001824 polyneuropathy skos:exactMatch MEDGEN:57502 semapv:UnspecifiedMatching MONDO:0001824 polyneuropathy skos:exactMatch NCIT:C26951 Polyneuropathy semapv:UnspecifiedMatching MONDO:0001824 polyneuropathy skos:exactMatch SCTID:42345000 semapv:UnspecifiedMatching MONDO:0001824 polyneuropathy skos:exactMatch UMLS:C0152025 semapv:UnspecifiedMatching MONDO:0001824 polyneuropathy skos:exactMatch icd11.foundation:58868923 Polyneuropathy semapv:UnspecifiedMatching MONDO:0001824 polyneuropathy skos:exactMatch mesh:D011115 semapv:UnspecifiedMatching MONDO:0001825 squamous papilloma skos:exactMatch DOID:139 squamous cell papilloma semapv:UnspecifiedMatching MONDO:0001825 squamous papilloma skos:exactMatch EFO:1001970 semapv:UnspecifiedMatching MONDO:0001825 squamous papilloma skos:exactMatch MEDGEN:61470 semapv:UnspecifiedMatching MONDO:0001825 squamous papilloma skos:exactMatch NCIT:C3712 Squamous Papilloma semapv:UnspecifiedMatching MONDO:0001825 squamous papilloma skos:exactMatch UMLS:C0205874 semapv:UnspecifiedMatching MONDO:0001827 white piedra skos:exactMatch DOID:13902 white piedra semapv:UnspecifiedMatching MONDO:0001827 white piedra skos:exactMatch ICD10CM:B36.2 White piedra semapv:UnspecifiedMatching MONDO:0001827 white piedra skos:exactMatch MEDGEN:452113 semapv:UnspecifiedMatching MONDO:0001827 white piedra skos:exactMatch SCTID:35586003 semapv:UnspecifiedMatching MONDO:0001827 white piedra skos:exactMatch UMLS:C0040249 semapv:UnspecifiedMatching MONDO:0001827 white piedra skos:exactMatch icd11.foundation:303653536 White piedra semapv:UnspecifiedMatching MONDO:0001828 acquired color blindness skos:exactMatch DOID:13912 acquired color blindness semapv:UnspecifiedMatching MONDO:0001828 acquired color blindness skos:exactMatch ICD10CM:H53.52 Acquired color vision deficiency semapv:UnspecifiedMatching MONDO:0001828 acquired color blindness skos:exactMatch MEDGEN:57828 semapv:UnspecifiedMatching MONDO:0001828 acquired color blindness skos:exactMatch NCIT:C118712 Acquired Color Blindness semapv:UnspecifiedMatching MONDO:0001828 acquired color blindness skos:exactMatch SCTID:71676008 semapv:UnspecifiedMatching MONDO:0001828 acquired color blindness skos:exactMatch UMLS:C0155018 semapv:UnspecifiedMatching MONDO:0001829 lumbosacral plexus lesion skos:exactMatch DOID:13913 lumbosacral plexus lesion semapv:UnspecifiedMatching MONDO:0001829 lumbosacral plexus lesion skos:exactMatch MEDGEN:509637 semapv:UnspecifiedMatching MONDO:0001829 lumbosacral plexus lesion skos:exactMatch SCTID:4062006 semapv:UnspecifiedMatching MONDO:0001829 lumbosacral plexus lesion skos:exactMatch UMLS:C0154735 semapv:UnspecifiedMatching MONDO:0001830 somatization disorder skos:exactMatch DOID:13918 somatization disorder semapv:UnspecifiedMatching MONDO:0001830 somatization disorder skos:exactMatch ICD10CM:F45.0 Somatization disorder semapv:UnspecifiedMatching MONDO:0001830 somatization disorder skos:exactMatch MEDGEN:99241 semapv:UnspecifiedMatching MONDO:0001830 somatization disorder skos:exactMatch SCTID:397923000 semapv:UnspecifiedMatching MONDO:0001830 somatization disorder skos:exactMatch UMLS:C0520482 semapv:UnspecifiedMatching MONDO:0001831 irregular astigmatism skos:exactMatch DOID:13919 irregular astigmatism semapv:UnspecifiedMatching MONDO:0001831 irregular astigmatism skos:exactMatch ICD10CM:H52.21 Irregular astigmatism semapv:UnspecifiedMatching MONDO:0001831 irregular astigmatism skos:exactMatch MEDGEN:508922 semapv:UnspecifiedMatching MONDO:0001831 irregular astigmatism skos:exactMatch SCTID:47099006 semapv:UnspecifiedMatching MONDO:0001831 irregular astigmatism skos:exactMatch UMLS:C0152194 semapv:UnspecifiedMatching MONDO:0001831 irregular astigmatism skos:exactMatch icd11.foundation:1086387343 Irregular astigmatism semapv:UnspecifiedMatching MONDO:0001832 bacterial esophagitis skos:exactMatch DOID:13921 bacterial esophagitis semapv:UnspecifiedMatching MONDO:0001832 bacterial esophagitis skos:exactMatch MEDGEN:83319 semapv:UnspecifiedMatching MONDO:0001832 bacterial esophagitis skos:exactMatch NCIT:C27106 Bacterial Esophagitis semapv:UnspecifiedMatching MONDO:0001832 bacterial esophagitis skos:exactMatch SCTID:235601001 semapv:UnspecifiedMatching MONDO:0001832 bacterial esophagitis skos:exactMatch UMLS:C0341108 semapv:UnspecifiedMatching MONDO:0001833 lacrimal duct obstruction skos:exactMatch DOID:13929 lacrimal duct obstruction semapv:UnspecifiedMatching MONDO:0001833 lacrimal duct obstruction skos:exactMatch MEDGEN:226915 semapv:UnspecifiedMatching MONDO:0001833 lacrimal duct obstruction skos:exactMatch SCTID:416920000 semapv:UnspecifiedMatching MONDO:0001833 lacrimal duct obstruction skos:exactMatch UMLS:C1281931 semapv:UnspecifiedMatching MONDO:0001833 lacrimal duct obstruction skos:exactMatch mesh:D007767 semapv:UnspecifiedMatching MONDO:0001834 visual pathway disorder skos:exactMatch DOID:1393 visual pathway disease semapv:UnspecifiedMatching MONDO:0001834 visual pathway disorder skos:exactMatch ICD10CM:H47.9 Unspecified disorder of visual pathways semapv:UnspecifiedMatching MONDO:0001834 visual pathway disorder skos:exactMatch MEDGEN:57831 semapv:UnspecifiedMatching MONDO:0001834 visual pathway disorder skos:exactMatch NCIT:C35342 Visual Pathway Disorder semapv:UnspecifiedMatching MONDO:0001834 visual pathway disorder skos:exactMatch SCTID:54767005 semapv:UnspecifiedMatching MONDO:0001834 visual pathway disorder skos:exactMatch SCTID:95776004 semapv:UnspecifiedMatching MONDO:0001834 visual pathway disorder skos:exactMatch UMLS:C0155287 semapv:UnspecifiedMatching MONDO:0001835 facial paralysis skos:exactMatch DOID:13934 facial paralysis semapv:UnspecifiedMatching MONDO:0001835 facial paralysis skos:exactMatch MEDGEN:5101 semapv:UnspecifiedMatching MONDO:0001835 facial paralysis skos:exactMatch SCTID:280816001 semapv:UnspecifiedMatching MONDO:0001835 facial paralysis skos:exactMatch UMLS:C0015469 semapv:UnspecifiedMatching MONDO:0001835 facial paralysis skos:exactMatch mesh:D005158 semapv:UnspecifiedMatching MONDO:0001836 amenorrhea skos:exactMatch DOID:13938 amenorrhea semapv:UnspecifiedMatching MONDO:0001836 amenorrhea skos:exactMatch MEDGEN:8016 semapv:UnspecifiedMatching MONDO:0001836 amenorrhea skos:exactMatch NCIT:C61443 Amenorrhea semapv:UnspecifiedMatching MONDO:0001836 amenorrhea skos:exactMatch UMLS:C0002453 semapv:UnspecifiedMatching MONDO:0001836 amenorrhea skos:exactMatch mesh:D000568 semapv:UnspecifiedMatching MONDO:0001837 acute gonococcal salpingitis skos:exactMatch DOID:13942 acute gonococcal salpingitis semapv:UnspecifiedMatching MONDO:0001837 acute gonococcal salpingitis skos:exactMatch MEDGEN:546728 semapv:UnspecifiedMatching MONDO:0001837 acute gonococcal salpingitis skos:exactMatch SCTID:45377007 semapv:UnspecifiedMatching MONDO:0001837 acute gonococcal salpingitis skos:exactMatch UMLS:C0275654 semapv:UnspecifiedMatching MONDO:0001837 acute gonococcal salpingitis skos:exactMatch icd11.foundation:48273613 Acute gonococcal salpingitis semapv:UnspecifiedMatching MONDO:0001838 acute gonococcal prostatitis skos:exactMatch DOID:13943 acute gonococcal prostatitis semapv:UnspecifiedMatching MONDO:0001838 acute gonococcal prostatitis skos:exactMatch MEDGEN:509194 semapv:UnspecifiedMatching MONDO:0001838 acute gonococcal prostatitis skos:exactMatch SCTID:111806005 semapv:UnspecifiedMatching MONDO:0001838 acute gonococcal prostatitis skos:exactMatch UMLS:C0153192 semapv:UnspecifiedMatching MONDO:0001838 acute gonococcal prostatitis skos:exactMatch icd11.foundation:1552826290 Acute gonococcal prostatitis semapv:UnspecifiedMatching MONDO:0001841 uterine corpus epithelioid leiomyoma skos:exactMatch DOID:13951 uterine corpus epithelioid leiomyoma semapv:UnspecifiedMatching MONDO:0001841 uterine corpus epithelioid leiomyoma skos:exactMatch MEDGEN:275554 semapv:UnspecifiedMatching MONDO:0001841 uterine corpus epithelioid leiomyoma skos:exactMatch NCIT:C40164 Uterine Corpus Epithelioid Leiomyoma semapv:UnspecifiedMatching MONDO:0001841 uterine corpus epithelioid leiomyoma skos:exactMatch UMLS:C1519850 semapv:UnspecifiedMatching MONDO:0001842 uterine corpus dissecting leiomyoma skos:exactMatch DOID:13953 uterine corpus dissecting leiomyoma semapv:UnspecifiedMatching MONDO:0001842 uterine corpus dissecting leiomyoma skos:exactMatch MEDGEN:275552 semapv:UnspecifiedMatching MONDO:0001842 uterine corpus dissecting leiomyoma skos:exactMatch NCIT:C40172 Uterine Corpus Dissecting Leiomyoma semapv:UnspecifiedMatching MONDO:0001842 uterine corpus dissecting leiomyoma skos:exactMatch UMLS:C1519847 semapv:UnspecifiedMatching MONDO:0001843 uterus interstitial leiomyoma skos:exactMatch DOID:13955 uterus interstitial leiomyoma semapv:UnspecifiedMatching MONDO:0001843 uterus interstitial leiomyoma skos:exactMatch ICD10CM:D25.1 Intramural leiomyoma of uterus semapv:UnspecifiedMatching MONDO:0001843 uterus interstitial leiomyoma skos:exactMatch MEDGEN:509502 semapv:UnspecifiedMatching MONDO:0001843 uterus interstitial leiomyoma skos:exactMatch SCTID:93616000 semapv:UnspecifiedMatching MONDO:0001843 uterus interstitial leiomyoma skos:exactMatch UMLS:C0153994 semapv:UnspecifiedMatching MONDO:0001844 uterine corpus myxoid leiomyoma skos:exactMatch DOID:13956 uterine corpus myxoid leiomyoma semapv:UnspecifiedMatching MONDO:0001844 uterine corpus myxoid leiomyoma skos:exactMatch MEDGEN:275558 semapv:UnspecifiedMatching MONDO:0001844 uterine corpus myxoid leiomyoma skos:exactMatch NCIT:C40166 Uterine Corpus Myxoid Leiomyoma semapv:UnspecifiedMatching MONDO:0001844 uterine corpus myxoid leiomyoma skos:exactMatch UMLS:C1519860 semapv:UnspecifiedMatching MONDO:0001845 uterine corpus lipoleiomyoma skos:exactMatch DOID:13957 uterine corpus lipoleiomyoma semapv:UnspecifiedMatching MONDO:0001845 uterine corpus lipoleiomyoma skos:exactMatch MEDGEN:311424 semapv:UnspecifiedMatching MONDO:0001845 uterine corpus lipoleiomyoma skos:exactMatch NCIT:C40168 Uterine Corpus Lipoleiomyoma semapv:UnspecifiedMatching MONDO:0001845 uterine corpus lipoleiomyoma skos:exactMatch UMLS:C1519856 semapv:UnspecifiedMatching MONDO:0001846 uterine corpus bizarre leiomyoma skos:exactMatch DOID:13958 uterine corpus bizarre leiomyoma semapv:UnspecifiedMatching MONDO:0001846 uterine corpus bizarre leiomyoma skos:exactMatch MEDGEN:275555 semapv:UnspecifiedMatching MONDO:0001846 uterine corpus bizarre leiomyoma skos:exactMatch NCIT:C40167 Uterine Corpus Bizarre Leiomyoma semapv:UnspecifiedMatching MONDO:0001846 uterine corpus bizarre leiomyoma skos:exactMatch UMLS:C1519853 semapv:UnspecifiedMatching MONDO:0001847 nuclear senile cataract skos:exactMatch DOID:13963 nuclear senile cataract semapv:UnspecifiedMatching MONDO:0001847 nuclear senile cataract skos:exactMatch MEDGEN:543204 semapv:UnspecifiedMatching MONDO:0001847 nuclear senile cataract skos:exactMatch SCTID:193589009 semapv:UnspecifiedMatching MONDO:0001847 nuclear senile cataract skos:exactMatch UMLS:C0271166 semapv:UnspecifiedMatching MONDO:0001848 Morgagni cataract skos:exactMatch DOID:13964 Morgagni cataract semapv:UnspecifiedMatching MONDO:0001848 Morgagni cataract skos:exactMatch MEDGEN:508950 semapv:UnspecifiedMatching MONDO:0001848 Morgagni cataract skos:exactMatch SCTID:264443002 semapv:UnspecifiedMatching MONDO:0001848 Morgagni cataract skos:exactMatch UMLS:C0152258 semapv:UnspecifiedMatching MONDO:0001849 chronic orbital inflammation skos:exactMatch DOID:1397 chronic orbital inflammation semapv:UnspecifiedMatching MONDO:0001849 chronic orbital inflammation skos:exactMatch MEDGEN:509880 semapv:UnspecifiedMatching MONDO:0001849 chronic orbital inflammation skos:exactMatch SCTID:44729001 semapv:UnspecifiedMatching MONDO:0001849 chronic orbital inflammation skos:exactMatch UMLS:C0155261 semapv:UnspecifiedMatching MONDO:0001850 female breast lower-outer quadrant cancer skos:exactMatch DOID:13972 female breast lower-outer quadrant cancer semapv:UnspecifiedMatching MONDO:0001850 female breast lower-outer quadrant cancer skos:exactMatch MEDGEN:509327 semapv:UnspecifiedMatching MONDO:0001850 female breast lower-outer quadrant cancer skos:exactMatch SCTID:188155002 semapv:UnspecifiedMatching MONDO:0001850 female breast lower-outer quadrant cancer skos:exactMatch UMLS:C0153553 semapv:UnspecifiedMatching MONDO:0001851 primary lacrimal atrophy skos:exactMatch DOID:1399 primary lacrimal atrophy semapv:UnspecifiedMatching MONDO:0001851 primary lacrimal atrophy skos:exactMatch MEDGEN:509859 semapv:UnspecifiedMatching MONDO:0001851 primary lacrimal atrophy skos:exactMatch SCTID:17093002 semapv:UnspecifiedMatching MONDO:0001851 primary lacrimal atrophy skos:exactMatch UMLS:C0155229 semapv:UnspecifiedMatching MONDO:0001852 small intestine lymphoma skos:exactMatch DOID:13996 small intestine lymphoma semapv:UnspecifiedMatching MONDO:0001852 small intestine lymphoma skos:exactMatch MEDGEN:82986 semapv:UnspecifiedMatching MONDO:0001852 small intestine lymphoma skos:exactMatch NCIT:C4007 Small Intestinal Lymphoma semapv:UnspecifiedMatching MONDO:0001852 small intestine lymphoma skos:exactMatch SCTID:449074003 semapv:UnspecifiedMatching MONDO:0001852 small intestine lymphoma skos:exactMatch UMLS:C0278805 semapv:UnspecifiedMatching MONDO:0001853 contact blepharoconjunctivitis skos:exactMatch DOID:13999 contact blepharoconjunctivitis semapv:UnspecifiedMatching MONDO:0001853 contact blepharoconjunctivitis skos:exactMatch ICD10CM:H10.53 Contact blepharoconjunctivitis semapv:UnspecifiedMatching MONDO:0001853 contact blepharoconjunctivitis skos:exactMatch MEDGEN:509811 semapv:UnspecifiedMatching MONDO:0001853 contact blepharoconjunctivitis skos:exactMatch SCTID:10813004 semapv:UnspecifiedMatching MONDO:0001853 contact blepharoconjunctivitis skos:exactMatch UMLS:C0155150 semapv:UnspecifiedMatching MONDO:0001853 contact blepharoconjunctivitis skos:exactMatch icd11.foundation:1096051270 Contact blepharoconjunctivitis semapv:UnspecifiedMatching MONDO:0001854 lacrimal apparatus disorder skos:exactMatch DOID:1400 lacrimal apparatus disease semapv:UnspecifiedMatching MONDO:0001854 lacrimal apparatus disorder skos:exactMatch EFO:0009455 semapv:UnspecifiedMatching MONDO:0001854 lacrimal apparatus disorder skos:exactMatch MEDGEN:5994 semapv:UnspecifiedMatching MONDO:0001854 lacrimal apparatus disorder skos:exactMatch NCIT:C26809 Lacrimal System Disorder semapv:UnspecifiedMatching MONDO:0001854 lacrimal apparatus disorder skos:exactMatch SCTID:31053003 semapv:UnspecifiedMatching MONDO:0001854 lacrimal apparatus disorder skos:exactMatch UMLS:C0022904 semapv:UnspecifiedMatching MONDO:0001854 lacrimal apparatus disorder skos:exactMatch mesh:D007766 semapv:UnspecifiedMatching MONDO:0001855 rubeosis iridis skos:exactMatch DOID:14000 rubeosis iridis semapv:UnspecifiedMatching MONDO:0001855 rubeosis iridis skos:exactMatch MEDGEN:488789 semapv:UnspecifiedMatching MONDO:0001855 rubeosis iridis skos:exactMatch SCTID:51995000 semapv:UnspecifiedMatching MONDO:0001855 rubeosis iridis skos:exactMatch UMLS:C0154916 semapv:UnspecifiedMatching MONDO:0001856 splenic artery aneurysm skos:exactMatch DOID:14006 splenic artery aneurysm semapv:UnspecifiedMatching MONDO:0001856 splenic artery aneurysm skos:exactMatch MEDGEN:510069 semapv:UnspecifiedMatching MONDO:0001856 splenic artery aneurysm skos:exactMatch SCTID:70405009 semapv:UnspecifiedMatching MONDO:0001856 splenic artery aneurysm skos:exactMatch UMLS:C0155747 semapv:UnspecifiedMatching MONDO:0001857 Brucella canis brucellosis skos:exactMatch DOID:14019 Brucella canis brucellosis semapv:UnspecifiedMatching MONDO:0001857 Brucella canis brucellosis skos:exactMatch MEDGEN:635501 semapv:UnspecifiedMatching MONDO:0001857 Brucella canis brucellosis skos:exactMatch SCTID:428174001 semapv:UnspecifiedMatching MONDO:0001857 Brucella canis brucellosis skos:exactMatch UMLS:C0494040 semapv:UnspecifiedMatching MONDO:0001858 Tietze syndrome skos:exactMatch DOID:14021 Tietze's syndrome semapv:UnspecifiedMatching MONDO:0001858 Tietze syndrome skos:exactMatch ICD10CM:M94.0 Chondrocostal junction syndrome [Tietze] semapv:UnspecifiedMatching MONDO:0001858 Tietze syndrome skos:exactMatch MEDGEN:52753 semapv:UnspecifiedMatching MONDO:0001858 Tietze syndrome skos:exactMatch NCIT:C168333 Musculoskeletal Chest Pain due to Costochondral Junction Syndrome semapv:UnspecifiedMatching MONDO:0001858 Tietze syndrome skos:exactMatch SCTID:30128009 semapv:UnspecifiedMatching MONDO:0001858 Tietze syndrome skos:exactMatch UMLS:C0040213 semapv:UnspecifiedMatching MONDO:0001858 Tietze syndrome skos:exactMatch mesh:D013991 semapv:UnspecifiedMatching MONDO:0001860 folic acid deficiency anemia skos:exactMatch DOID:14026 folic acid deficiency anemia semapv:UnspecifiedMatching MONDO:0001860 folic acid deficiency anemia skos:exactMatch ICD10CM:D52 Folate deficiency anemia semapv:UnspecifiedMatching MONDO:0001860 folic acid deficiency anemia skos:exactMatch MEDGEN:508764 semapv:UnspecifiedMatching MONDO:0001860 folic acid deficiency anemia skos:exactMatch SCTID:85649008 semapv:UnspecifiedMatching MONDO:0001860 folic acid deficiency anemia skos:exactMatch UMLS:C0151482 semapv:UnspecifiedMatching MONDO:0001861 malignant parietal pleura tumor skos:exactMatch DOID:14032 malignant parietal pleura tumor semapv:UnspecifiedMatching MONDO:0001861 malignant parietal pleura tumor skos:exactMatch MEDGEN:509310 semapv:UnspecifiedMatching MONDO:0001861 malignant parietal pleura tumor skos:exactMatch SCTID:93948004 semapv:UnspecifiedMatching MONDO:0001861 malignant parietal pleura tumor skos:exactMatch UMLS:C0153495 semapv:UnspecifiedMatching MONDO:0001862 malignant visceral pleura tumor skos:exactMatch DOID:14033 malignant visceral pleura tumor semapv:UnspecifiedMatching MONDO:0001862 malignant visceral pleura tumor skos:exactMatch MEDGEN:509311 semapv:UnspecifiedMatching MONDO:0001862 malignant visceral pleura tumor skos:exactMatch SCTID:94140004 semapv:UnspecifiedMatching MONDO:0001862 malignant visceral pleura tumor skos:exactMatch UMLS:C0153496 semapv:UnspecifiedMatching MONDO:0001863 aorta atresia skos:exactMatch DOID:14037 aorta atresia semapv:UnspecifiedMatching MONDO:0001863 aorta atresia skos:exactMatch ICD10CM:Q25.2 Atresia of aorta semapv:UnspecifiedMatching MONDO:0001863 aorta atresia skos:exactMatch MEDGEN:576689 semapv:UnspecifiedMatching MONDO:0001863 aorta atresia skos:exactMatch SCTID:204431007 semapv:UnspecifiedMatching MONDO:0001863 aorta atresia skos:exactMatch UMLS:C0345010 semapv:UnspecifiedMatching MONDO:0001864 residual stage angle-closure glaucoma skos:exactMatch DOID:1404 residual stage angle-closure glaucoma semapv:UnspecifiedMatching MONDO:0001864 residual stage angle-closure glaucoma skos:exactMatch ICD10CM:H40.24 Residual stage of angle-closure glaucoma semapv:UnspecifiedMatching MONDO:0001864 residual stage angle-closure glaucoma skos:exactMatch MEDGEN:509737 semapv:UnspecifiedMatching MONDO:0001864 residual stage angle-closure glaucoma skos:exactMatch SCTID:55129006 semapv:UnspecifiedMatching MONDO:0001864 residual stage angle-closure glaucoma skos:exactMatch UMLS:C0154948 semapv:UnspecifiedMatching MONDO:0001866 bipolar I disorder skos:exactMatch DOID:14042 bipolar I disorder semapv:UnspecifiedMatching MONDO:0001866 bipolar I disorder skos:exactMatch MEDGEN:678499 semapv:UnspecifiedMatching MONDO:0001866 bipolar I disorder skos:exactMatch SCTID:371596008 semapv:UnspecifiedMatching MONDO:0001866 bipolar I disorder skos:exactMatch UMLS:C0853193 semapv:UnspecifiedMatching MONDO:0001867 phaeohyphomycosis skos:exactMatch DOID:14049 phaeohyphomycosis semapv:UnspecifiedMatching MONDO:0001867 phaeohyphomycosis skos:exactMatch MEDGEN:452374 semapv:UnspecifiedMatching MONDO:0001867 phaeohyphomycosis skos:exactMatch SCTID:47158003 semapv:UnspecifiedMatching MONDO:0001867 phaeohyphomycosis skos:exactMatch UMLS:C0276721 semapv:UnspecifiedMatching MONDO:0001867 phaeohyphomycosis skos:exactMatch icd11.foundation:547567937 Phaeohyphomycosis semapv:UnspecifiedMatching MONDO:0001867 phaeohyphomycosis skos:exactMatch mesh:D060446 semapv:UnspecifiedMatching MONDO:0001868 primary angle-closure glaucoma skos:exactMatch DOID:1405 primary angle-closure glaucoma semapv:UnspecifiedMatching MONDO:0001868 primary angle-closure glaucoma skos:exactMatch EFO:1001506 semapv:UnspecifiedMatching MONDO:0001868 primary angle-closure glaucoma skos:exactMatch ICD10CM:H40.2 Primary angle-closure glaucoma semapv:UnspecifiedMatching MONDO:0001868 primary angle-closure glaucoma skos:exactMatch MEDGEN:42225 semapv:UnspecifiedMatching MONDO:0001868 primary angle-closure glaucoma skos:exactMatch SCTID:392288006 semapv:UnspecifiedMatching MONDO:0001868 primary angle-closure glaucoma skos:exactMatch UMLS:C0017606 semapv:UnspecifiedMatching MONDO:0001869 paraurethral gland cancer skos:exactMatch DOID:14059 paraurethral gland cancer semapv:UnspecifiedMatching MONDO:0001869 paraurethral gland cancer skos:exactMatch MEDGEN:509343 semapv:UnspecifiedMatching MONDO:0001869 paraurethral gland cancer skos:exactMatch SCTID:363460002 semapv:UnspecifiedMatching MONDO:0001869 paraurethral gland cancer skos:exactMatch UMLS:C0153621 semapv:UnspecifiedMatching MONDO:0001869 paraurethral gland cancer skos:exactMatch icd11.foundation:8446067 Malignant neoplasm of paraurethral gland semapv:UnspecifiedMatching MONDO:0001870 acute poststreptococcal glomerulonephritis skos:exactMatch DOID:14064 acute poststreptococcal glomerulonephritis semapv:UnspecifiedMatching MONDO:0001870 acute poststreptococcal glomerulonephritis skos:exactMatch MEDGEN:140785 semapv:UnspecifiedMatching MONDO:0001870 acute poststreptococcal glomerulonephritis skos:exactMatch SCTID:68544003 semapv:UnspecifiedMatching MONDO:0001870 acute poststreptococcal glomerulonephritis skos:exactMatch UMLS:C0403414 semapv:UnspecifiedMatching MONDO:0001871 acute diffuse glomerulonephritis skos:exactMatch DOID:14066 acute diffuse nephritis semapv:UnspecifiedMatching MONDO:0001871 acute diffuse glomerulonephritis skos:exactMatch MEDGEN:137959 semapv:UnspecifiedMatching MONDO:0001871 acute diffuse glomerulonephritis skos:exactMatch NCIT:C35587 Acute Diffuse Glomerulonephritis semapv:UnspecifiedMatching MONDO:0001871 acute diffuse glomerulonephritis skos:exactMatch SCTID:197585004 semapv:UnspecifiedMatching MONDO:0001871 acute diffuse glomerulonephritis skos:exactMatch UMLS:C0341689 semapv:UnspecifiedMatching MONDO:0001872 obsolete vestibular nystagmus skos:exactMatch DOID:14070 vestibular nystagmus semapv:UnspecifiedMatching MONDO:0001872 obsolete vestibular nystagmus skos:exactMatch SCTID:46888001 semapv:UnspecifiedMatching MONDO:0001873 geniculate ganglionitis skos:exactMatch DOID:14075 geniculate ganglionitis semapv:UnspecifiedMatching MONDO:0001873 geniculate ganglionitis skos:exactMatch ICD10CM:G51.1 Geniculate ganglionitis semapv:UnspecifiedMatching MONDO:0001873 geniculate ganglionitis skos:exactMatch MEDGEN:4879 semapv:UnspecifiedMatching MONDO:0001873 geniculate ganglionitis skos:exactMatch SCTID:72839009 semapv:UnspecifiedMatching MONDO:0001873 geniculate ganglionitis skos:exactMatch UMLS:C0017407 semapv:UnspecifiedMatching MONDO:0001873 geniculate ganglionitis skos:exactMatch icd11.foundation:305361524 Geniculate ganglionitis semapv:UnspecifiedMatching MONDO:0001874 toxic labyrinthitis skos:exactMatch DOID:14081 toxic labyrinthitis semapv:UnspecifiedMatching MONDO:0001874 toxic labyrinthitis skos:exactMatch MEDGEN:509996 semapv:UnspecifiedMatching MONDO:0001874 toxic labyrinthitis skos:exactMatch SCTID:3344003 semapv:UnspecifiedMatching MONDO:0001874 toxic labyrinthitis skos:exactMatch SCTID:9062008 semapv:UnspecifiedMatching MONDO:0001874 toxic labyrinthitis skos:exactMatch UMLS:C0155507 semapv:UnspecifiedMatching MONDO:0001875 epicondylitis skos:exactMatch DOID:14087 epicondylitis semapv:UnspecifiedMatching MONDO:0001875 epicondylitis skos:exactMatch EFO:1001887 semapv:UnspecifiedMatching MONDO:0001875 epicondylitis skos:exactMatch ICD10CM:M77.1 Lateral epicondylitis semapv:UnspecifiedMatching MONDO:0001875 epicondylitis skos:exactMatch MEDGEN:4090 semapv:UnspecifiedMatching MONDO:0001875 epicondylitis skos:exactMatch NCIT:C34589 Epicondylitis semapv:UnspecifiedMatching MONDO:0001875 epicondylitis skos:exactMatch SCTID:202855006 semapv:UnspecifiedMatching MONDO:0001875 epicondylitis skos:exactMatch UMLS:C0014488 semapv:UnspecifiedMatching MONDO:0001875 epicondylitis skos:exactMatch mesh:D013716 semapv:UnspecifiedMatching MONDO:0001876 renal artery atheroma skos:exactMatch DOID:14092 renal artery atheroma semapv:UnspecifiedMatching MONDO:0001876 renal artery atheroma skos:exactMatch ICD10CM:I70.1 Atherosclerosis of renal artery semapv:UnspecifiedMatching MONDO:0001876 renal artery atheroma skos:exactMatch MEDGEN:510062 semapv:UnspecifiedMatching MONDO:0001876 renal artery atheroma skos:exactMatch SCTID:45281005 semapv:UnspecifiedMatching MONDO:0001876 renal artery atheroma skos:exactMatch UMLS:C0155734 semapv:UnspecifiedMatching MONDO:0001876 renal artery atheroma skos:exactMatch icd11.foundation:975345242 Atherosclerosis of renal artery semapv:UnspecifiedMatching MONDO:0001877 infertility due to extratesticular cause skos:exactMatch DOID:14096 infertility due to extratesticular cause semapv:UnspecifiedMatching MONDO:0001877 infertility due to extratesticular cause skos:exactMatch MEDGEN:507846 semapv:UnspecifiedMatching MONDO:0001877 infertility due to extratesticular cause skos:exactMatch SCTID:84245004 semapv:UnspecifiedMatching MONDO:0001877 infertility due to extratesticular cause skos:exactMatch UMLS:C0021360 semapv:UnspecifiedMatching MONDO:0001878 acquired hypertrophic pyloric stenosis skos:exactMatch DOID:14099 acquired gastric outlet stenosis semapv:UnspecifiedMatching MONDO:0001878 acquired hypertrophic pyloric stenosis skos:exactMatch MEDGEN:675190 semapv:UnspecifiedMatching MONDO:0001878 acquired hypertrophic pyloric stenosis skos:exactMatch SCTID:266438007 semapv:UnspecifiedMatching MONDO:0001878 acquired hypertrophic pyloric stenosis skos:exactMatch UMLS:C0700588 semapv:UnspecifiedMatching MONDO:0001879 anus cancer skos:exactMatch DOID:14110 anus cancer semapv:UnspecifiedMatching MONDO:0001879 anus cancer skos:exactMatch MEDGEN:56303 semapv:UnspecifiedMatching MONDO:0001879 anus cancer skos:exactMatch NCIT:C7379 Malignant Anal Neoplasm semapv:UnspecifiedMatching MONDO:0001879 anus cancer skos:exactMatch UMLS:C0153446 semapv:UnspecifiedMatching MONDO:0001880 median rhomboid glossitis skos:exactMatch DOID:14111 median rhomboid glossitis semapv:UnspecifiedMatching MONDO:0001880 median rhomboid glossitis skos:exactMatch ICD10CM:K14.2 Median rhomboid glossitis semapv:UnspecifiedMatching MONDO:0001880 median rhomboid glossitis skos:exactMatch MEDGEN:510155 semapv:UnspecifiedMatching MONDO:0001880 median rhomboid glossitis skos:exactMatch SCTID:7522008 semapv:UnspecifiedMatching MONDO:0001880 median rhomboid glossitis skos:exactMatch UMLS:C0155963 semapv:UnspecifiedMatching MONDO:0001880 median rhomboid glossitis skos:exactMatch icd11.foundation:598142773 Median rhomboid glossitis semapv:UnspecifiedMatching MONDO:0001881 toxic shock syndrome skos:exactMatch DOID:14115 toxic shock syndrome semapv:UnspecifiedMatching MONDO:0001881 toxic shock syndrome skos:exactMatch ICD10CM:A48.3 Toxic shock syndrome semapv:UnspecifiedMatching MONDO:0001881 toxic shock syndrome skos:exactMatch MEDGEN:109414 semapv:UnspecifiedMatching MONDO:0001881 toxic shock syndrome skos:exactMatch NCIT:C35498 Toxic Shock Syndrome semapv:UnspecifiedMatching MONDO:0001881 toxic shock syndrome skos:exactMatch Orphanet:36234 Bacterial toxic-shock syndrome semapv:UnspecifiedMatching MONDO:0001881 toxic shock syndrome skos:exactMatch SCTID:18504008 semapv:UnspecifiedMatching MONDO:0001881 toxic shock syndrome skos:exactMatch UMLS:C0600327 semapv:UnspecifiedMatching MONDO:0001881 toxic shock syndrome skos:exactMatch icd11.foundation:114886962 Toxic shock syndrome semapv:UnspecifiedMatching MONDO:0001881 toxic shock syndrome skos:exactMatch mesh:D012772 semapv:UnspecifiedMatching MONDO:0001882 bacteriuria skos:exactMatch DOID:1412 bacteriuria semapv:UnspecifiedMatching MONDO:0001882 bacteriuria skos:exactMatch MEDGEN:491 semapv:UnspecifiedMatching MONDO:0001882 bacteriuria skos:exactMatch UMLS:C0004659 semapv:UnspecifiedMatching MONDO:0001882 bacteriuria skos:exactMatch icd11.foundation:626563645 Bacteriuria semapv:UnspecifiedMatching MONDO:0001882 bacteriuria skos:exactMatch mesh:D001437 semapv:UnspecifiedMatching MONDO:0001883 blue toe syndrome skos:exactMatch DOID:14121 blue toe syndrome semapv:UnspecifiedMatching MONDO:0001883 blue toe syndrome skos:exactMatch MEDGEN:66940 semapv:UnspecifiedMatching MONDO:0001883 blue toe syndrome skos:exactMatch UMLS:C0242645 semapv:UnspecifiedMatching MONDO:0001883 blue toe syndrome skos:exactMatch mesh:D018438 semapv:UnspecifiedMatching MONDO:0001884 abducens nerve neoplasm skos:exactMatch DOID:14125 abducens nerve neoplasm semapv:UnspecifiedMatching MONDO:0001884 abducens nerve neoplasm skos:exactMatch MEDGEN:224732 semapv:UnspecifiedMatching MONDO:0001884 abducens nerve neoplasm skos:exactMatch NCIT:C5826 Abducens Nerve Neoplasm semapv:UnspecifiedMatching MONDO:0001884 abducens nerve neoplasm skos:exactMatch SCTID:126972009 semapv:UnspecifiedMatching MONDO:0001884 abducens nerve neoplasm skos:exactMatch UMLS:C1263898 semapv:UnspecifiedMatching MONDO:0001885 lateral cystocele skos:exactMatch DOID:14130 lateral cystocele semapv:UnspecifiedMatching MONDO:0001885 lateral cystocele skos:exactMatch ICD10CM:N81.12 Cystocele, lateral semapv:UnspecifiedMatching MONDO:0001885 lateral cystocele skos:exactMatch MEDGEN:751516 semapv:UnspecifiedMatching MONDO:0001885 lateral cystocele skos:exactMatch SCTID:441891001 semapv:UnspecifiedMatching MONDO:0001885 lateral cystocele skos:exactMatch UMLS:C2711750 semapv:UnspecifiedMatching MONDO:0001886 midline cystocele skos:exactMatch DOID:14131 midline cystocele semapv:UnspecifiedMatching MONDO:0001886 midline cystocele skos:exactMatch ICD10CM:N81.11 Cystocele, midline semapv:UnspecifiedMatching MONDO:0001886 midline cystocele skos:exactMatch MEDGEN:733480 semapv:UnspecifiedMatching MONDO:0001886 midline cystocele skos:exactMatch SCTID:423633003 semapv:UnspecifiedMatching MONDO:0001886 midline cystocele skos:exactMatch UMLS:C1456248 semapv:UnspecifiedMatching MONDO:0001887 Allen-Masters syndrome skos:exactMatch DOID:14133 Masters-Allen syndrome semapv:UnspecifiedMatching MONDO:0001887 Allen-Masters syndrome skos:exactMatch MEDGEN:508875 semapv:UnspecifiedMatching MONDO:0001887 Allen-Masters syndrome skos:exactMatch SCTID:69186005 semapv:UnspecifiedMatching MONDO:0001887 Allen-Masters syndrome skos:exactMatch UMLS:C0152079 semapv:UnspecifiedMatching MONDO:0001888 anus lymphoma skos:exactMatch DOID:14139 anus lymphoma semapv:UnspecifiedMatching MONDO:0001888 anus lymphoma skos:exactMatch MEDGEN:272308 semapv:UnspecifiedMatching MONDO:0001888 anus lymphoma skos:exactMatch NCIT:C5601 Anal Lymphoma semapv:UnspecifiedMatching MONDO:0001888 anus lymphoma skos:exactMatch UMLS:C1332268 semapv:UnspecifiedMatching MONDO:0001889 ovarian dysfunction skos:exactMatch DOID:1414 ovarian dysfunction semapv:UnspecifiedMatching MONDO:0001889 ovarian dysfunction skos:exactMatch EFO:0009003 semapv:UnspecifiedMatching MONDO:0001889 ovarian dysfunction skos:exactMatch ICD10CM:E28 Ovarian dysfunction semapv:UnspecifiedMatching MONDO:0001889 ovarian dysfunction skos:exactMatch ICD10WHO:E28 Ovarian dysfunction semapv:UnspecifiedMatching MONDO:0001889 ovarian dysfunction skos:exactMatch MEDGEN:509544 semapv:UnspecifiedMatching MONDO:0001889 ovarian dysfunction skos:exactMatch NCIT:C113351 Ovarian Failure semapv:UnspecifiedMatching MONDO:0001889 ovarian dysfunction skos:exactMatch SCTID:37102008 semapv:UnspecifiedMatching MONDO:0001889 ovarian dysfunction skos:exactMatch UMLS:C0154208 semapv:UnspecifiedMatching MONDO:0001889 ovarian dysfunction skos:exactMatch icd11.foundation:1801368748 Ovarian dysfunction semapv:UnspecifiedMatching MONDO:0001890 pulp erosion skos:exactMatch DOID:14140 pulp erosion semapv:UnspecifiedMatching MONDO:0001890 pulp erosion skos:exactMatch MEDGEN:1843466 semapv:UnspecifiedMatching MONDO:0001890 pulp erosion skos:exactMatch UMLS:C1456163 semapv:UnspecifiedMatching MONDO:0001892 spinal cord lymphoma skos:exactMatch DOID:14150 spinal cord lymphoma semapv:UnspecifiedMatching MONDO:0001892 spinal cord lymphoma skos:exactMatch MEDGEN:236836 semapv:UnspecifiedMatching MONDO:0001892 spinal cord lymphoma skos:exactMatch NCIT:C5157 Spinal Cord Lymphoma semapv:UnspecifiedMatching MONDO:0001892 spinal cord lymphoma skos:exactMatch UMLS:C1336044 semapv:UnspecifiedMatching MONDO:0001893 spinal cord melanoma skos:exactMatch DOID:14151 spinal cord melanoma semapv:UnspecifiedMatching MONDO:0001893 spinal cord melanoma skos:exactMatch MEDGEN:236837 semapv:UnspecifiedMatching MONDO:0001893 spinal cord melanoma skos:exactMatch NCIT:C5158 Spinal Cord Melanoma semapv:UnspecifiedMatching MONDO:0001893 spinal cord melanoma skos:exactMatch UMLS:C1336045 semapv:UnspecifiedMatching MONDO:0001894 spinal cord sarcoma skos:exactMatch DOID:14152 spinal cord sarcoma semapv:UnspecifiedMatching MONDO:0001894 spinal cord sarcoma skos:exactMatch MEDGEN:233459 semapv:UnspecifiedMatching MONDO:0001894 spinal cord sarcoma skos:exactMatch NCIT:C5152 Spinal Cord Sarcoma semapv:UnspecifiedMatching MONDO:0001894 spinal cord sarcoma skos:exactMatch UMLS:C1336049 semapv:UnspecifiedMatching MONDO:0001895 acute retrobulbar neuritis skos:exactMatch DOID:14155 acute retrobulbar neuritis semapv:UnspecifiedMatching MONDO:0001895 acute retrobulbar neuritis skos:exactMatch MEDGEN:509901 semapv:UnspecifiedMatching MONDO:0001895 acute retrobulbar neuritis skos:exactMatch SCTID:51604006 semapv:UnspecifiedMatching MONDO:0001895 acute retrobulbar neuritis skos:exactMatch UMLS:C0155301 semapv:UnspecifiedMatching MONDO:0001896 obstructive hydrocephalus skos:exactMatch DOID:14159 obstructive hydrocephalus semapv:UnspecifiedMatching MONDO:0001896 obstructive hydrocephalus skos:exactMatch ICD10CM:G91.1 Obstructive hydrocephalus semapv:UnspecifiedMatching MONDO:0001896 obstructive hydrocephalus skos:exactMatch MEDGEN:108198 semapv:UnspecifiedMatching MONDO:0001896 obstructive hydrocephalus skos:exactMatch NCIT:C116347 Non-Communicating Hydrocephalus semapv:UnspecifiedMatching MONDO:0001896 obstructive hydrocephalus skos:exactMatch SCTID:230746009 semapv:UnspecifiedMatching MONDO:0001896 obstructive hydrocephalus skos:exactMatch UMLS:C0549423 semapv:UnspecifiedMatching MONDO:0001897 bilateral hyperactive labyrinth skos:exactMatch DOID:14165 bilateral hyperactive labyrinth semapv:UnspecifiedMatching MONDO:0001897 bilateral hyperactive labyrinth skos:exactMatch MEDGEN:510002 semapv:UnspecifiedMatching MONDO:0001897 bilateral hyperactive labyrinth skos:exactMatch SCTID:194373002 semapv:UnspecifiedMatching MONDO:0001897 bilateral hyperactive labyrinth skos:exactMatch UMLS:C0155516 semapv:UnspecifiedMatching MONDO:0001898 optic choroid disorder skos:exactMatch DOID:1417 choroid disease semapv:UnspecifiedMatching MONDO:0001898 optic choroid disorder skos:exactMatch MEDGEN:892839 semapv:UnspecifiedMatching MONDO:0001898 optic choroid disorder skos:exactMatch NCIT:C34468 Choroid Disorder semapv:UnspecifiedMatching MONDO:0001898 optic choroid disorder skos:exactMatch SCTID:128468007 semapv:UnspecifiedMatching MONDO:0001898 optic choroid disorder skos:exactMatch UMLS:C4025836 semapv:UnspecifiedMatching MONDO:0001898 optic choroid disorder skos:exactMatch mesh:D015862 semapv:UnspecifiedMatching MONDO:0001899 rheumatic congestive heart failure skos:exactMatch DOID:14172 rheumatic congestive heart failure semapv:UnspecifiedMatching MONDO:0001899 rheumatic congestive heart failure skos:exactMatch ICD10CM:I09.81 Rheumatic heart failure semapv:UnspecifiedMatching MONDO:0001899 rheumatic congestive heart failure skos:exactMatch MEDGEN:510028 semapv:UnspecifiedMatching MONDO:0001899 rheumatic congestive heart failure skos:exactMatch SCTID:82523003 semapv:UnspecifiedMatching MONDO:0001899 rheumatic congestive heart failure skos:exactMatch UMLS:C0155582 semapv:UnspecifiedMatching MONDO:0001901 selective IgG subclass deficiency skos:exactMatch DOID:14176 selective IgG deficiency disease semapv:UnspecifiedMatching MONDO:0001901 selective IgG subclass deficiency skos:exactMatch MEDGEN:56446 semapv:UnspecifiedMatching MONDO:0001901 selective IgG subclass deficiency skos:exactMatch NCIT:C27024 Selective Immunoglobulin G Subclass Deficiency semapv:UnspecifiedMatching MONDO:0001901 selective IgG subclass deficiency skos:exactMatch SCTID:190981001 semapv:UnspecifiedMatching MONDO:0001901 selective IgG subclass deficiency skos:exactMatch UMLS:C0162539 semapv:UnspecifiedMatching MONDO:0001901 selective IgG subclass deficiency skos:exactMatch mesh:D017099 semapv:UnspecifiedMatching MONDO:0001902 congenital agammaglobulinemia skos:exactMatch DOID:14177 congenital hypogammaglobulinemia semapv:UnspecifiedMatching MONDO:0001902 congenital agammaglobulinemia skos:exactMatch MEDGEN:1806025 semapv:UnspecifiedMatching MONDO:0001902 congenital agammaglobulinemia skos:exactMatch UMLS:C5574711 semapv:UnspecifiedMatching MONDO:0001903 calcific tendinitis skos:exactMatch DOID:14181 calcific tendinitis semapv:UnspecifiedMatching MONDO:0001903 calcific tendinitis skos:exactMatch ICD10CM:M65.2 Calcific tendinitis semapv:UnspecifiedMatching MONDO:0001903 calcific tendinitis skos:exactMatch MEDGEN:636635 semapv:UnspecifiedMatching MONDO:0001903 calcific tendinitis skos:exactMatch SCTID:95414005 semapv:UnspecifiedMatching MONDO:0001903 calcific tendinitis skos:exactMatch UMLS:C0521515 semapv:UnspecifiedMatching MONDO:0001903 calcific tendinitis skos:exactMatch icd11.foundation:856383808 Calcific tendinitis semapv:UnspecifiedMatching MONDO:0001904 polyneuropathy due to drug skos:exactMatch DOID:14184 polyneuropathy due to drug semapv:UnspecifiedMatching MONDO:0001904 polyneuropathy due to drug skos:exactMatch MEDGEN:509649 semapv:UnspecifiedMatching MONDO:0001904 polyneuropathy due to drug skos:exactMatch NCIT:C215367 Drug-Induced Polyneuropathy semapv:UnspecifiedMatching MONDO:0001904 polyneuropathy due to drug skos:exactMatch SCTID:7339009 semapv:UnspecifiedMatching MONDO:0001904 polyneuropathy due to drug skos:exactMatch UMLS:C0154762 semapv:UnspecifiedMatching MONDO:0001905 bicipital tenosynovitis skos:exactMatch DOID:14192 bicipital tenosynovitis semapv:UnspecifiedMatching MONDO:0001905 bicipital tenosynovitis skos:exactMatch MEDGEN:510505 semapv:UnspecifiedMatching MONDO:0001905 bicipital tenosynovitis skos:exactMatch SCTID:41137001 semapv:UnspecifiedMatching MONDO:0001905 bicipital tenosynovitis skos:exactMatch UMLS:C0158304 semapv:UnspecifiedMatching MONDO:0001905 bicipital tenosynovitis skos:exactMatch icd11.foundation:1292787411 Bicipital tenosynovitis semapv:UnspecifiedMatching MONDO:0001906 posterior dislocation of lens skos:exactMatch DOID:14199 posterior dislocation of lens semapv:UnspecifiedMatching MONDO:0001906 posterior dislocation of lens skos:exactMatch ICD10CM:H27.13 Posterior dislocation of lens semapv:UnspecifiedMatching MONDO:0001906 posterior dislocation of lens skos:exactMatch MEDGEN:509942 semapv:UnspecifiedMatching MONDO:0001906 posterior dislocation of lens skos:exactMatch SCTID:14169000 semapv:UnspecifiedMatching MONDO:0001906 posterior dislocation of lens skos:exactMatch UMLS:C0155373 semapv:UnspecifiedMatching MONDO:0001906 posterior dislocation of lens skos:exactMatch icd11.foundation:516761725 Posterior dislocation of lens semapv:UnspecifiedMatching MONDO:0001907 adult dermatomyositis skos:exactMatch DOID:14202 adult dermatomyositis semapv:UnspecifiedMatching MONDO:0001907 adult dermatomyositis skos:exactMatch MEDGEN:66356 semapv:UnspecifiedMatching MONDO:0001907 adult dermatomyositis skos:exactMatch NCIT:C27313 Adult Dermatomyositis semapv:UnspecifiedMatching MONDO:0001907 adult dermatomyositis skos:exactMatch SCTID:402425006 semapv:UnspecifiedMatching MONDO:0001907 adult dermatomyositis skos:exactMatch UMLS:C0221056 semapv:UnspecifiedMatching MONDO:0001907 adult dermatomyositis skos:exactMatch icd11.foundation:544509908 Adult dermatomyositis semapv:UnspecifiedMatching MONDO:0001909 renal tubular acidosis skos:exactMatch DOID:14219 renal tubular acidosis semapv:UnspecifiedMatching MONDO:0001909 renal tubular acidosis skos:exactMatch MEDGEN:90 semapv:UnspecifiedMatching MONDO:0001909 renal tubular acidosis skos:exactMatch SCTID:1776003 semapv:UnspecifiedMatching MONDO:0001909 renal tubular acidosis skos:exactMatch UMLS:C0001126 semapv:UnspecifiedMatching MONDO:0001909 renal tubular acidosis skos:exactMatch icd11.foundation:1272869150 Renal tubular acidosis semapv:UnspecifiedMatching MONDO:0001909 renal tubular acidosis skos:exactMatch mesh:D000141 semapv:UnspecifiedMatching MONDO:0001910 ochronosis disorder skos:exactMatch DOID:14223 ochronosis semapv:UnspecifiedMatching MONDO:0001910 ochronosis disorder skos:exactMatch MEDGEN:45177 semapv:UnspecifiedMatching MONDO:0001910 ochronosis disorder skos:exactMatch NCIT:C84938 Ochronosis semapv:UnspecifiedMatching MONDO:0001910 ochronosis disorder skos:exactMatch SCTID:410042009 semapv:UnspecifiedMatching MONDO:0001910 ochronosis disorder skos:exactMatch UMLS:C0028817 semapv:UnspecifiedMatching MONDO:0001910 ochronosis disorder skos:exactMatch mesh:D009794 semapv:UnspecifiedMatching MONDO:0001911 tracheal calcification skos:exactMatch DOID:14224 tracheal calcification semapv:UnspecifiedMatching MONDO:0001911 tracheal calcification skos:exactMatch MEDGEN:75539 semapv:UnspecifiedMatching MONDO:0001911 tracheal calcification skos:exactMatch SCTID:81089005 semapv:UnspecifiedMatching MONDO:0001911 tracheal calcification skos:exactMatch UMLS:C0264324 semapv:UnspecifiedMatching MONDO:0001912 acute frontal sinusitis skos:exactMatch DOID:14225 acute frontal sinusitis semapv:UnspecifiedMatching MONDO:0001912 acute frontal sinusitis skos:exactMatch ICD10CM:J01.1 Acute frontal sinusitis semapv:UnspecifiedMatching MONDO:0001912 acute frontal sinusitis skos:exactMatch MEDGEN:510087 semapv:UnspecifiedMatching MONDO:0001912 acute frontal sinusitis skos:exactMatch SCTID:91038008 semapv:UnspecifiedMatching MONDO:0001912 acute frontal sinusitis skos:exactMatch UMLS:C0155805 semapv:UnspecifiedMatching MONDO:0001912 acute frontal sinusitis skos:exactMatch icd11.foundation:86893536 Acute frontal sinusitis semapv:UnspecifiedMatching MONDO:0001913 oligospermia skos:exactMatch DOID:14228 oligospermia semapv:UnspecifiedMatching MONDO:0001913 oligospermia skos:exactMatch ICD10CM:N46.1 Oligospermia semapv:UnspecifiedMatching MONDO:0001913 oligospermia skos:exactMatch MEDGEN:18162 semapv:UnspecifiedMatching MONDO:0001913 oligospermia skos:exactMatch UMLS:C0028960 semapv:UnspecifiedMatching MONDO:0001913 oligospermia skos:exactMatch icd11.foundation:1497721709 Oligospermia semapv:UnspecifiedMatching MONDO:0001913 oligospermia skos:exactMatch mesh:D009845 semapv:UnspecifiedMatching MONDO:0001914 scleromalacia perforans skos:exactMatch DOID:14230 scleromalacia perforans semapv:UnspecifiedMatching MONDO:0001914 scleromalacia perforans skos:exactMatch ICD10CM:H15.05 Scleromalacia perforans semapv:UnspecifiedMatching MONDO:0001914 scleromalacia perforans skos:exactMatch MEDGEN:509929 semapv:UnspecifiedMatching MONDO:0001914 scleromalacia perforans skos:exactMatch SCTID:26664005 semapv:UnspecifiedMatching MONDO:0001914 scleromalacia perforans skos:exactMatch UMLS:C0155354 semapv:UnspecifiedMatching MONDO:0001914 scleromalacia perforans skos:exactMatch icd11.foundation:740830358 Scleromalacia perforans semapv:UnspecifiedMatching MONDO:0001915 orbital cyst skos:exactMatch DOID:14233 orbital cyst semapv:UnspecifiedMatching MONDO:0001915 orbital cyst skos:exactMatch MEDGEN:56359 semapv:UnspecifiedMatching MONDO:0001915 orbital cyst skos:exactMatch SCTID:31021007 semapv:UnspecifiedMatching MONDO:0001915 orbital cyst skos:exactMatch UMLS:C0155285 semapv:UnspecifiedMatching MONDO:0001915 orbital cyst skos:exactMatch icd11.foundation:1244231313 Orbital cyst semapv:UnspecifiedMatching MONDO:0001916 gastrointestinal tularemia skos:exactMatch DOID:14239 gastrointestinal tularemia semapv:UnspecifiedMatching MONDO:0001916 gastrointestinal tularemia skos:exactMatch ICD10CM:A21.3 Gastrointestinal tularemia semapv:UnspecifiedMatching MONDO:0001916 gastrointestinal tularemia skos:exactMatch MEDGEN:1684658 semapv:UnspecifiedMatching MONDO:0001916 gastrointestinal tularemia skos:exactMatch UMLS:C0494039 semapv:UnspecifiedMatching MONDO:0001917 chronic perichondritis of pinna skos:exactMatch DOID:14243 chronic perichondritis of pinna semapv:UnspecifiedMatching MONDO:0001917 chronic perichondritis of pinna skos:exactMatch MEDGEN:509947 semapv:UnspecifiedMatching MONDO:0001917 chronic perichondritis of pinna skos:exactMatch SCTID:45431004 semapv:UnspecifiedMatching MONDO:0001917 chronic perichondritis of pinna skos:exactMatch UMLS:C0155391 semapv:UnspecifiedMatching MONDO:0001918 epiphora due to excess lacrimation skos:exactMatch DOID:14244 epiphora due to excess lacrimation semapv:UnspecifiedMatching MONDO:0001918 epiphora due to excess lacrimation skos:exactMatch ICD10CM:H04.21 Epiphora due to excess lacrimation semapv:UnspecifiedMatching MONDO:0001918 epiphora due to excess lacrimation skos:exactMatch MEDGEN:509861 semapv:UnspecifiedMatching MONDO:0001918 epiphora due to excess lacrimation skos:exactMatch SCTID:31788005 semapv:UnspecifiedMatching MONDO:0001918 epiphora due to excess lacrimation skos:exactMatch UMLS:C0155233 semapv:UnspecifiedMatching MONDO:0001918 epiphora due to excess lacrimation skos:exactMatch icd11.foundation:255772124 Epiphora due to excess lacrimation semapv:UnspecifiedMatching MONDO:0001919 cystoid macular retinal degeneration skos:exactMatch DOID:14245 cystoid macular retinal degeneration semapv:UnspecifiedMatching MONDO:0001919 cystoid macular retinal degeneration skos:exactMatch MEDGEN:472900 semapv:UnspecifiedMatching MONDO:0001919 cystoid macular retinal degeneration skos:exactMatch SCTID:14046000 semapv:UnspecifiedMatching MONDO:0001919 cystoid macular retinal degeneration skos:exactMatch UMLS:C0154850 semapv:UnspecifiedMatching MONDO:0001920 chronic purulent otitis media skos:exactMatch DOID:14247 chronic purulent otitis media semapv:UnspecifiedMatching MONDO:0001920 chronic purulent otitis media skos:exactMatch MEDGEN:543356 semapv:UnspecifiedMatching MONDO:0001920 chronic purulent otitis media skos:exactMatch NCIT:C128386 Chronic Suppurative Otitis Media semapv:UnspecifiedMatching MONDO:0001920 chronic purulent otitis media skos:exactMatch SCTID:38394007 semapv:UnspecifiedMatching MONDO:0001920 chronic purulent otitis media skos:exactMatch UMLS:C0271454 semapv:UnspecifiedMatching MONDO:0001920 chronic purulent otitis media skos:exactMatch icd11.foundation:669695172 Chronic purulent otitis media semapv:UnspecifiedMatching MONDO:0001921 chronic atticoantral disease skos:exactMatch DOID:14248 chronic atticoantral disease semapv:UnspecifiedMatching MONDO:0001921 chronic atticoantral disease skos:exactMatch ICD10CM:H66.2 Chronic atticoantral suppurative otitis media semapv:UnspecifiedMatching MONDO:0001921 chronic atticoantral disease skos:exactMatch MEDGEN:509967 semapv:UnspecifiedMatching MONDO:0001921 chronic atticoantral disease skos:exactMatch SCTID:267759006 semapv:UnspecifiedMatching MONDO:0001921 chronic atticoantral disease skos:exactMatch UMLS:C0155441 semapv:UnspecifiedMatching MONDO:0001922 pyoureter skos:exactMatch DOID:1425 pyoureter semapv:UnspecifiedMatching MONDO:0001922 pyoureter skos:exactMatch MEDGEN:19600 semapv:UnspecifiedMatching MONDO:0001922 pyoureter skos:exactMatch NCIT:C35666 Ureter Abscess semapv:UnspecifiedMatching MONDO:0001922 pyoureter skos:exactMatch SCTID:85884009 semapv:UnspecifiedMatching MONDO:0001922 pyoureter skos:exactMatch UMLS:C0034223 semapv:UnspecifiedMatching MONDO:0001922 pyoureter skos:exactMatch icd11.foundation:692694709 Pyoureter semapv:UnspecifiedMatching MONDO:0001923 vitreoretinal dystrophy skos:exactMatch DOID:14251 vitreoretinal dystrophy semapv:UnspecifiedMatching MONDO:0001923 vitreoretinal dystrophy skos:exactMatch ICD10CM:H35.51 Vitreoretinal dystrophy semapv:UnspecifiedMatching MONDO:0001923 vitreoretinal dystrophy skos:exactMatch MEDGEN:509690 semapv:UnspecifiedMatching MONDO:0001923 vitreoretinal dystrophy skos:exactMatch SCTID:79556007 semapv:UnspecifiedMatching MONDO:0001923 vitreoretinal dystrophy skos:exactMatch UMLS:C0154863 semapv:UnspecifiedMatching MONDO:0001923 vitreoretinal dystrophy skos:exactMatch icd11.foundation:817777781 Vitreoretinal dystrophy semapv:UnspecifiedMatching MONDO:0001924 dystrophies primarily involving the retinal pigment epithelium skos:exactMatch DOID:14252 dystrophies primarily involving the retinal pigment epithelium semapv:UnspecifiedMatching MONDO:0001924 dystrophies primarily involving the retinal pigment epithelium skos:exactMatch ICD10CM:H35.54 Dystrophies primarily involving the retinal pigment epithelium semapv:UnspecifiedMatching MONDO:0001924 dystrophies primarily involving the retinal pigment epithelium skos:exactMatch MEDGEN:1843460 semapv:UnspecifiedMatching MONDO:0001924 dystrophies primarily involving the retinal pigment epithelium skos:exactMatch UMLS:C0154865 semapv:UnspecifiedMatching MONDO:0001924 dystrophies primarily involving the retinal pigment epithelium skos:exactMatch icd11.foundation:1387676300 Dystrophies primarily involving the retinal pigment epithelium semapv:UnspecifiedMatching MONDO:0001925 retinal dystrophy in systemic or cerebroretinal lipidoses skos:exactMatch DOID:14253 retinal dystrophy in systemic or cerebroretinal lipidoses semapv:UnspecifiedMatching MONDO:0001925 retinal dystrophy in systemic or cerebroretinal lipidoses skos:exactMatch MEDGEN:1843490 semapv:UnspecifiedMatching MONDO:0001925 retinal dystrophy in systemic or cerebroretinal lipidoses skos:exactMatch SCTID:15059000 semapv:UnspecifiedMatching MONDO:0001925 retinal dystrophy in systemic or cerebroretinal lipidoses skos:exactMatch SCTID:192788009 semapv:UnspecifiedMatching MONDO:0001925 retinal dystrophy in systemic or cerebroretinal lipidoses skos:exactMatch UMLS:C0154861 semapv:UnspecifiedMatching MONDO:0001926 ureteral disorder skos:exactMatch DOID:1426 ureteral disease semapv:UnspecifiedMatching MONDO:0001926 ureteral disorder skos:exactMatch MEDGEN:98018 semapv:UnspecifiedMatching MONDO:0001926 ureteral disorder skos:exactMatch NCIT:C27148 Ureter Disorder semapv:UnspecifiedMatching MONDO:0001926 ureteral disorder skos:exactMatch SCTID:128073008 semapv:UnspecifiedMatching MONDO:0001926 ureteral disorder skos:exactMatch UMLS:C0403608 semapv:UnspecifiedMatching MONDO:0001926 ureteral disorder skos:exactMatch mesh:D014515 semapv:UnspecifiedMatching MONDO:0001927 pulmonary valve insufficiency skos:exactMatch DOID:14265 pulmonary valve insufficiency semapv:UnspecifiedMatching MONDO:0001927 pulmonary valve insufficiency skos:exactMatch MEDGEN:11031 semapv:UnspecifiedMatching MONDO:0001927 pulmonary valve insufficiency skos:exactMatch NCIT:C50848 Pulmonary Valvular Regurgitation semapv:UnspecifiedMatching MONDO:0001927 pulmonary valve insufficiency skos:exactMatch SCTID:194995005 semapv:UnspecifiedMatching MONDO:0001927 pulmonary valve insufficiency skos:exactMatch UMLS:C0034088 semapv:UnspecifiedMatching MONDO:0001927 pulmonary valve insufficiency skos:exactMatch icd11.foundation:1093888988 Pulmonary valve insufficiency semapv:UnspecifiedMatching MONDO:0001927 pulmonary valve insufficiency skos:exactMatch mesh:D011665 semapv:UnspecifiedMatching MONDO:0001928 suppurative cholangitis skos:exactMatch DOID:14269 suppurative cholangitis semapv:UnspecifiedMatching MONDO:0001928 suppurative cholangitis skos:exactMatch MEDGEN:82766 semapv:UnspecifiedMatching MONDO:0001928 suppurative cholangitis skos:exactMatch NCIT:C35336 Suppurative Cholangitis semapv:UnspecifiedMatching MONDO:0001928 suppurative cholangitis skos:exactMatch SCTID:69850007 semapv:UnspecifiedMatching MONDO:0001928 suppurative cholangitis skos:exactMatch UMLS:C0267924 semapv:UnspecifiedMatching MONDO:0001928 suppurative cholangitis skos:exactMatch icd11.foundation:32799822 Suppurative cholangitis semapv:UnspecifiedMatching MONDO:0001929 ascending cholangitis skos:exactMatch DOID:14270 ascending cholangitis semapv:UnspecifiedMatching MONDO:0001929 ascending cholangitis skos:exactMatch MEDGEN:81387 semapv:UnspecifiedMatching MONDO:0001929 ascending cholangitis skos:exactMatch NCIT:C35372 Ascending Cholangitis semapv:UnspecifiedMatching MONDO:0001929 ascending cholangitis skos:exactMatch SCTID:26918003 semapv:UnspecifiedMatching MONDO:0001929 ascending cholangitis skos:exactMatch UMLS:C0311273 semapv:UnspecifiedMatching MONDO:0001930 acute cholangitis skos:exactMatch DOID:14271 acute cholangitis semapv:UnspecifiedMatching MONDO:0001930 acute cholangitis skos:exactMatch MEDGEN:82764 semapv:UnspecifiedMatching MONDO:0001930 acute cholangitis skos:exactMatch NCIT:C35334 Acute Cholangitis semapv:UnspecifiedMatching MONDO:0001930 acute cholangitis skos:exactMatch SCTID:6215006 semapv:UnspecifiedMatching MONDO:0001930 acute cholangitis skos:exactMatch UMLS:C0267917 semapv:UnspecifiedMatching MONDO:0001931 pericholangitis skos:exactMatch DOID:14272 pericholangitis semapv:UnspecifiedMatching MONDO:0001931 pericholangitis skos:exactMatch MEDGEN:18381 semapv:UnspecifiedMatching MONDO:0001931 pericholangitis skos:exactMatch NCIT:C34916 Pericholangitis semapv:UnspecifiedMatching MONDO:0001931 pericholangitis skos:exactMatch SCTID:111373008 semapv:UnspecifiedMatching MONDO:0001931 pericholangitis skos:exactMatch UMLS:C0031052 semapv:UnspecifiedMatching MONDO:0001932 obsolete atrophic vulva skos:exactMatch DOID:14275 atrophic vulva semapv:UnspecifiedMatching MONDO:0001932 obsolete atrophic vulva skos:exactMatch ICD10CM:N90.5 Atrophy of vulva semapv:UnspecifiedMatching MONDO:0001932 obsolete atrophic vulva skos:exactMatch SCTID:248861000 semapv:UnspecifiedMatching MONDO:0001933 endocrine pancreas disorder skos:exactMatch DOID:1428 endocrine pancreas disease semapv:UnspecifiedMatching MONDO:0001933 endocrine pancreas disorder skos:exactMatch MEDGEN:124407 semapv:UnspecifiedMatching MONDO:0001933 endocrine pancreas disorder skos:exactMatch NCIT:C27067 Endocrine Pancreas Disorder semapv:UnspecifiedMatching MONDO:0001933 endocrine pancreas disorder skos:exactMatch SCTID:17346000 semapv:UnspecifiedMatching MONDO:0001933 endocrine pancreas disorder skos:exactMatch UMLS:C0271633 semapv:UnspecifiedMatching MONDO:0001935 neurogenic arthropathy skos:exactMatch DOID:14286 neurogenic arthropathy semapv:UnspecifiedMatching MONDO:0001935 neurogenic arthropathy skos:exactMatch EFO:1001378 semapv:UnspecifiedMatching MONDO:0001935 neurogenic arthropathy skos:exactMatch ICD10CM:M14.6 Charcôt's joint semapv:UnspecifiedMatching MONDO:0001935 neurogenic arthropathy skos:exactMatch MEDGEN:13919 semapv:UnspecifiedMatching MONDO:0001935 neurogenic arthropathy skos:exactMatch SCTID:359554008 semapv:UnspecifiedMatching MONDO:0001935 neurogenic arthropathy skos:exactMatch UMLS:C0003892 semapv:UnspecifiedMatching MONDO:0001935 neurogenic arthropathy skos:exactMatch mesh:D001177 semapv:UnspecifiedMatching MONDO:0001936 brawny scleritis skos:exactMatch DOID:14287 brawny scleritis semapv:UnspecifiedMatching MONDO:0001936 brawny scleritis skos:exactMatch ICD10CM:H15.02 Brawny scleritis semapv:UnspecifiedMatching MONDO:0001936 brawny scleritis skos:exactMatch MEDGEN:509931 semapv:UnspecifiedMatching MONDO:0001936 brawny scleritis skos:exactMatch SCTID:91612009 semapv:UnspecifiedMatching MONDO:0001936 brawny scleritis skos:exactMatch UMLS:C0155356 semapv:UnspecifiedMatching MONDO:0001936 brawny scleritis skos:exactMatch icd11.foundation:1606860546 Brawny scleritis semapv:UnspecifiedMatching MONDO:0001938 vulvar dystrophy skos:exactMatch DOID:14292 vulvar dystrophy semapv:UnspecifiedMatching MONDO:0001938 vulvar dystrophy skos:exactMatch MEDGEN:3942 semapv:UnspecifiedMatching MONDO:0001938 vulvar dystrophy skos:exactMatch NCIT:C34565 Vulvar Dystrophy semapv:UnspecifiedMatching MONDO:0001938 vulvar dystrophy skos:exactMatch SCTID:51689003 semapv:UnspecifiedMatching MONDO:0001938 vulvar dystrophy skos:exactMatch UMLS:C0013426 semapv:UnspecifiedMatching MONDO:0001939 skin epithelioid hemangioma skos:exactMatch DOID:14308 skin epithelioid hemangioma semapv:UnspecifiedMatching MONDO:0001939 skin epithelioid hemangioma skos:exactMatch MEDGEN:297 semapv:UnspecifiedMatching MONDO:0001939 skin epithelioid hemangioma skos:exactMatch NCIT:C7393 Skin Epithelioid Hemangioma semapv:UnspecifiedMatching MONDO:0001939 skin epithelioid hemangioma skos:exactMatch SCTID:400131007 semapv:UnspecifiedMatching MONDO:0001939 skin epithelioid hemangioma skos:exactMatch UMLS:C0002989 semapv:UnspecifiedMatching MONDO:0001940 pleuropneumonia skos:exactMatch DOID:14319 pleuropneumonia semapv:UnspecifiedMatching MONDO:0001940 pleuropneumonia skos:exactMatch MEDGEN:18524 semapv:UnspecifiedMatching MONDO:0001940 pleuropneumonia skos:exactMatch SCTID:60485005 semapv:UnspecifiedMatching MONDO:0001940 pleuropneumonia skos:exactMatch UMLS:C0032241 semapv:UnspecifiedMatching MONDO:0001940 pleuropneumonia skos:exactMatch icd11.foundation:1272236893 Pleuropneumonia semapv:UnspecifiedMatching MONDO:0001940 pleuropneumonia skos:exactMatch mesh:D011001 semapv:UnspecifiedMatching MONDO:0001941 blindness (disorder) skos:exactMatch DOID:1432 blindness semapv:UnspecifiedMatching MONDO:0001941 blindness (disorder) skos:exactMatch ICD10CM:H54 Blindness and low vision semapv:UnspecifiedMatching MONDO:0001941 blindness (disorder) skos:exactMatch MEDGEN:99138 semapv:UnspecifiedMatching MONDO:0001941 blindness (disorder) skos:exactMatch NCIT:C97109 Blindness semapv:UnspecifiedMatching MONDO:0001941 blindness (disorder) skos:exactMatch SCTID:105597003 semapv:UnspecifiedMatching MONDO:0001941 blindness (disorder) skos:exactMatch UMLS:C0456909 semapv:UnspecifiedMatching MONDO:0001941 blindness (disorder) skos:exactMatch mesh:D001766 semapv:UnspecifiedMatching MONDO:0001942 generalized anxiety disorder skos:exactMatch DOID:14320 generalized anxiety disorder semapv:UnspecifiedMatching MONDO:0001942 generalized anxiety disorder skos:exactMatch EFO:1001892 semapv:UnspecifiedMatching MONDO:0001942 generalized anxiety disorder skos:exactMatch ICD10CM:F41.1 Generalized anxiety disorder semapv:UnspecifiedMatching MONDO:0001942 generalized anxiety disorder skos:exactMatch MEDGEN:452363 semapv:UnspecifiedMatching MONDO:0001942 generalized anxiety disorder skos:exactMatch NCIT:C92622 Generalized Anxiety Disorder semapv:UnspecifiedMatching MONDO:0001942 generalized anxiety disorder skos:exactMatch SCTID:21897009 semapv:UnspecifiedMatching MONDO:0001942 generalized anxiety disorder skos:exactMatch UMLS:C0270549 semapv:UnspecifiedMatching MONDO:0001943 Plasmodium malariae malaria skos:exactMatch DOID:14324 Plasmodium malariae malaria semapv:UnspecifiedMatching MONDO:0001943 Plasmodium malariae malaria skos:exactMatch ICD10CM:B52 Plasmodium malariae malaria semapv:UnspecifiedMatching MONDO:0001943 Plasmodium malariae malaria skos:exactMatch ICD10WHO:B52 Plasmodium malariae malaria semapv:UnspecifiedMatching MONDO:0001943 Plasmodium malariae malaria skos:exactMatch MEDGEN:44259 semapv:UnspecifiedMatching MONDO:0001943 Plasmodium malariae malaria skos:exactMatch NCIT:C34799 Quartan Malaria semapv:UnspecifiedMatching MONDO:0001943 Plasmodium malariae malaria skos:exactMatch SCTID:27618009 semapv:UnspecifiedMatching MONDO:0001943 Plasmodium malariae malaria skos:exactMatch UMLS:C0024536 semapv:UnspecifiedMatching MONDO:0001944 mixed malaria skos:exactMatch DOID:14325 mixed malaria semapv:UnspecifiedMatching MONDO:0001944 mixed malaria skos:exactMatch MEDGEN:509155 semapv:UnspecifiedMatching MONDO:0001944 mixed malaria skos:exactMatch SCTID:21070001 semapv:UnspecifiedMatching MONDO:0001944 mixed malaria skos:exactMatch UMLS:C0153121 semapv:UnspecifiedMatching MONDO:0001945 postencephalitic Parkinson disease skos:exactMatch DOID:14332 postencephalitic Parkinson disease semapv:UnspecifiedMatching MONDO:0001945 postencephalitic Parkinson disease skos:exactMatch EFO:1001402 semapv:UnspecifiedMatching MONDO:0001945 postencephalitic Parkinson disease skos:exactMatch ICD10CM:G21.3 Postencephalitic parkinsonism semapv:UnspecifiedMatching MONDO:0001945 postencephalitic Parkinson disease skos:exactMatch MEDGEN:10591 semapv:UnspecifiedMatching MONDO:0001945 postencephalitic Parkinson disease skos:exactMatch NCIT:C34898 Postencephalitic Parkinsonism semapv:UnspecifiedMatching MONDO:0001945 postencephalitic Parkinson disease skos:exactMatch Orphanet:97349 Postencephalitic parkinsonism semapv:UnspecifiedMatching MONDO:0001945 postencephalitic Parkinson disease skos:exactMatch SCTID:19972008 semapv:UnspecifiedMatching MONDO:0001945 postencephalitic Parkinson disease skos:exactMatch UMLS:C0030568 semapv:UnspecifiedMatching MONDO:0001945 postencephalitic Parkinson disease skos:exactMatch mesh:D010301 semapv:UnspecifiedMatching MONDO:0001946 obsolete hyperestrogenism skos:exactMatch DOID:14336 estrogen excess semapv:UnspecifiedMatching MONDO:0001946 obsolete hyperestrogenism skos:exactMatch ICD10CM:E28.0 Estrogen excess semapv:UnspecifiedMatching MONDO:0001946 obsolete hyperestrogenism skos:exactMatch ICD10WHO:E28.0 Ovarian dysfunction: Estrogen excess semapv:UnspecifiedMatching MONDO:0001946 obsolete hyperestrogenism skos:exactMatch SCTID:37295009 semapv:UnspecifiedMatching MONDO:0001947 suppurative thyroiditis skos:exactMatch DOID:14350 suppurative thyroiditis semapv:UnspecifiedMatching MONDO:0001947 suppurative thyroiditis skos:exactMatch EFO:1001431 semapv:UnspecifiedMatching MONDO:0001947 suppurative thyroiditis skos:exactMatch MEDGEN:21550 semapv:UnspecifiedMatching MONDO:0001947 suppurative thyroiditis skos:exactMatch NCIT:C129724 Acute Suppurative Thyroiditis semapv:UnspecifiedMatching MONDO:0001947 suppurative thyroiditis skos:exactMatch SCTID:25476006 semapv:UnspecifiedMatching MONDO:0001947 suppurative thyroiditis skos:exactMatch UMLS:C0040150 semapv:UnspecifiedMatching MONDO:0001947 suppurative thyroiditis skos:exactMatch mesh:D013969 semapv:UnspecifiedMatching MONDO:0001949 acute thyroiditis skos:exactMatch DOID:14353 acute thyroiditis semapv:UnspecifiedMatching MONDO:0001949 acute thyroiditis skos:exactMatch ICD10CM:E06.0 Acute thyroiditis semapv:UnspecifiedMatching MONDO:0001949 acute thyroiditis skos:exactMatch MEDGEN:507399 semapv:UnspecifiedMatching MONDO:0001949 acute thyroiditis skos:exactMatch SCTID:190293001 semapv:UnspecifiedMatching MONDO:0001949 acute thyroiditis skos:exactMatch UMLS:C0001360 semapv:UnspecifiedMatching MONDO:0001949 acute thyroiditis skos:exactMatch icd11.foundation:737694495 Acute thyroiditis semapv:UnspecifiedMatching MONDO:0001950 corneal ectasia skos:exactMatch DOID:1436 corneal ectasia semapv:UnspecifiedMatching MONDO:0001950 corneal ectasia skos:exactMatch ICD10CM:H18.71 Corneal ectasia semapv:UnspecifiedMatching MONDO:0001950 corneal ectasia skos:exactMatch MEDGEN:509803 semapv:UnspecifiedMatching MONDO:0001950 corneal ectasia skos:exactMatch SCTID:14748007 semapv:UnspecifiedMatching MONDO:0001950 corneal ectasia skos:exactMatch UMLS:C0155135 semapv:UnspecifiedMatching MONDO:0001950 corneal ectasia skos:exactMatch icd11.foundation:1703179358 Corneal ectasia semapv:UnspecifiedMatching MONDO:0001951 Norwegian scabies skos:exactMatch DOID:14374 norwegian scabies semapv:UnspecifiedMatching MONDO:0001951 Norwegian scabies skos:exactMatch MEDGEN:14409 semapv:UnspecifiedMatching MONDO:0001951 Norwegian scabies skos:exactMatch NCIT:C34855 Norwegian Scabies semapv:UnspecifiedMatching MONDO:0001951 Norwegian scabies skos:exactMatch SCTID:128870005 semapv:UnspecifiedMatching MONDO:0001951 Norwegian scabies skos:exactMatch UMLS:C0028425 semapv:UnspecifiedMatching MONDO:0001952 parietal lobe cancer skos:exactMatch DOID:14384 parietal lobe neoplasm semapv:UnspecifiedMatching MONDO:0001952 parietal lobe cancer skos:exactMatch ICD10CM:C71.3 Malignant neoplasm of parietal lobe semapv:UnspecifiedMatching MONDO:0001952 parietal lobe cancer skos:exactMatch MEDGEN:509348 semapv:UnspecifiedMatching MONDO:0001952 parietal lobe cancer skos:exactMatch SCTID:363469001 semapv:UnspecifiedMatching MONDO:0001952 parietal lobe cancer skos:exactMatch UMLS:C0153637 semapv:UnspecifiedMatching MONDO:0001952 parietal lobe cancer skos:exactMatch icd11.foundation:1752773718 Malignant neoplasm of parietal lobe of brain semapv:UnspecifiedMatching MONDO:0001953 pyuria skos:exactMatch DOID:1439 pyuria semapv:UnspecifiedMatching MONDO:0001953 pyuria skos:exactMatch MEDGEN:11078 semapv:UnspecifiedMatching MONDO:0001953 pyuria skos:exactMatch UMLS:C0034359 semapv:UnspecifiedMatching MONDO:0001953 pyuria skos:exactMatch icd11.foundation:2000630356 Pyuria semapv:UnspecifiedMatching MONDO:0001953 pyuria skos:exactMatch mesh:D011776 semapv:UnspecifiedMatching MONDO:0001954 thrombophlebitis migrans skos:exactMatch DOID:14392 thrombophlebitis migrans semapv:UnspecifiedMatching MONDO:0001954 thrombophlebitis migrans skos:exactMatch ICD10CM:I82.1 Thrombophlebitis migrans semapv:UnspecifiedMatching MONDO:0001954 thrombophlebitis migrans skos:exactMatch MEDGEN:508947 semapv:UnspecifiedMatching MONDO:0001954 thrombophlebitis migrans skos:exactMatch SCTID:31268005 semapv:UnspecifiedMatching MONDO:0001954 thrombophlebitis migrans skos:exactMatch UMLS:C0152250 semapv:UnspecifiedMatching MONDO:0001954 thrombophlebitis migrans skos:exactMatch icd11.foundation:674623750 Thrombophlebitis migrans semapv:UnspecifiedMatching MONDO:0001955 protozoal dysentery skos:exactMatch DOID:14397 protozoal dysentery semapv:UnspecifiedMatching MONDO:0001955 protozoal dysentery skos:exactMatch MEDGEN:1843396 semapv:UnspecifiedMatching MONDO:0001955 protozoal dysentery skos:exactMatch UMLS:C2142761 semapv:UnspecifiedMatching MONDO:0001956 capillary leak syndrome skos:exactMatch DOID:14400 capillary leak syndrome semapv:UnspecifiedMatching MONDO:0001956 capillary leak syndrome skos:exactMatch EFO:1001284 semapv:UnspecifiedMatching MONDO:0001956 capillary leak syndrome skos:exactMatch MEDGEN:137987 semapv:UnspecifiedMatching MONDO:0001956 capillary leak syndrome skos:exactMatch NCIT:C62578 Capillary Leak Syndrome semapv:UnspecifiedMatching MONDO:0001956 capillary leak syndrome skos:exactMatch Orphanet:188 Systemic capillary leak syndrome semapv:UnspecifiedMatching MONDO:0001956 capillary leak syndrome skos:exactMatch SCTID:87730004 semapv:UnspecifiedMatching MONDO:0001956 capillary leak syndrome skos:exactMatch UMLS:C0343084 semapv:UnspecifiedMatching MONDO:0001956 capillary leak syndrome skos:exactMatch mesh:D019559 semapv:UnspecifiedMatching MONDO:0001957 critical illness polyneuropathy skos:exactMatch DOID:14402 critical illness polyneuropathy semapv:UnspecifiedMatching MONDO:0001957 critical illness polyneuropathy skos:exactMatch ICD10CM:G62.81 Critical illness polyneuropathy semapv:UnspecifiedMatching MONDO:0001957 critical illness polyneuropathy skos:exactMatch MEDGEN:140748 semapv:UnspecifiedMatching MONDO:0001957 critical illness polyneuropathy skos:exactMatch SCTID:230594005 semapv:UnspecifiedMatching MONDO:0001957 critical illness polyneuropathy skos:exactMatch UMLS:C0393851 semapv:UnspecifiedMatching MONDO:0001959 labyrinthine bilateral reactive loss skos:exactMatch DOID:14413 labyrinthine bilateral reactive loss semapv:UnspecifiedMatching MONDO:0001959 labyrinthine bilateral reactive loss skos:exactMatch MEDGEN:510006 semapv:UnspecifiedMatching MONDO:0001959 labyrinthine bilateral reactive loss skos:exactMatch SCTID:194377001 semapv:UnspecifiedMatching MONDO:0001959 labyrinthine bilateral reactive loss skos:exactMatch UMLS:C0155520 semapv:UnspecifiedMatching MONDO:0001962 abnormality of glucagon secretion skos:exactMatch DOID:14427 abnormality of glucagon secretion semapv:UnspecifiedMatching MONDO:0001962 abnormality of glucagon secretion skos:exactMatch MEDGEN:509540 semapv:UnspecifiedMatching MONDO:0001962 abnormality of glucagon secretion skos:exactMatch SCTID:11178005 semapv:UnspecifiedMatching MONDO:0001962 abnormality of glucagon secretion skos:exactMatch UMLS:C0154191 semapv:UnspecifiedMatching MONDO:0001964 chronic tubotympanic suppurative otitis media skos:exactMatch DOID:14435 chronic tubotympanic suppurative otitis media semapv:UnspecifiedMatching MONDO:0001964 chronic tubotympanic suppurative otitis media skos:exactMatch ICD10CM:H66.1 Chronic tubotympanic suppurative otitis media semapv:UnspecifiedMatching MONDO:0001964 chronic tubotympanic suppurative otitis media skos:exactMatch MEDGEN:509966 semapv:UnspecifiedMatching MONDO:0001964 chronic tubotympanic suppurative otitis media skos:exactMatch SCTID:87665008 semapv:UnspecifiedMatching MONDO:0001964 chronic tubotympanic suppurative otitis media skos:exactMatch UMLS:C0155440 semapv:UnspecifiedMatching MONDO:0001964 chronic tubotympanic suppurative otitis media skos:exactMatch icd11.foundation:1770220148 Chronic tubotympanic suppurative otitis media semapv:UnspecifiedMatching MONDO:0001965 sclerosing keratitis skos:exactMatch DOID:14444 sclerosing keratitis semapv:UnspecifiedMatching MONDO:0001965 sclerosing keratitis skos:exactMatch ICD10CM:H16.33 Sclerosing keratitis semapv:UnspecifiedMatching MONDO:0001965 sclerosing keratitis skos:exactMatch MEDGEN:509781 semapv:UnspecifiedMatching MONDO:0001965 sclerosing keratitis skos:exactMatch SCTID:27886001 semapv:UnspecifiedMatching MONDO:0001965 sclerosing keratitis skos:exactMatch UMLS:C0155090 semapv:UnspecifiedMatching MONDO:0001965 sclerosing keratitis skos:exactMatch icd11.foundation:219361296 Sclerosing keratitis semapv:UnspecifiedMatching MONDO:0001966 chronic closed-angle glaucoma skos:exactMatch DOID:14445 chronic closed-angle glaucoma semapv:UnspecifiedMatching MONDO:0001966 chronic closed-angle glaucoma skos:exactMatch ICD10CM:H40.22 Chronic angle-closure glaucoma semapv:UnspecifiedMatching MONDO:0001966 chronic closed-angle glaucoma skos:exactMatch MEDGEN:509736 semapv:UnspecifiedMatching MONDO:0001966 chronic closed-angle glaucoma skos:exactMatch SCTID:33647009 semapv:UnspecifiedMatching MONDO:0001966 chronic closed-angle glaucoma skos:exactMatch UMLS:C0154947 semapv:UnspecifiedMatching MONDO:0001967 gonadal dysgenesis skos:exactMatch DOID:14447 gonadal dysgenesis semapv:UnspecifiedMatching MONDO:0001967 gonadal dysgenesis skos:exactMatch MEDGEN:9075 semapv:UnspecifiedMatching MONDO:0001967 gonadal dysgenesis skos:exactMatch NCIT:C61420 Gonadal Dysgenesis semapv:UnspecifiedMatching MONDO:0001967 gonadal dysgenesis skos:exactMatch SCTID:205681004 semapv:UnspecifiedMatching MONDO:0001967 gonadal dysgenesis skos:exactMatch UMLS:C0018051 semapv:UnspecifiedMatching MONDO:0001967 gonadal dysgenesis skos:exactMatch mesh:D006059 semapv:UnspecifiedMatching MONDO:0001969 mixed gonadal dysgenesis skos:exactMatch DOID:14449 mixed gonadal dysgenesis semapv:UnspecifiedMatching MONDO:0001969 mixed gonadal dysgenesis skos:exactMatch MEDGEN:6654 semapv:UnspecifiedMatching MONDO:0001969 mixed gonadal dysgenesis skos:exactMatch SCTID:83579008 semapv:UnspecifiedMatching MONDO:0001969 mixed gonadal dysgenesis skos:exactMatch UMLS:C0018055 semapv:UnspecifiedMatching MONDO:0001969 mixed gonadal dysgenesis skos:exactMatch mesh:D006060 semapv:UnspecifiedMatching MONDO:0001971 farmer's lung disease skos:exactMatch DOID:14453 farmer's lung semapv:UnspecifiedMatching MONDO:0001971 farmer's lung disease skos:exactMatch ICD10CM:J67.0 Farmer's lung semapv:UnspecifiedMatching MONDO:0001971 farmer's lung disease skos:exactMatch MEDGEN:8785 semapv:UnspecifiedMatching MONDO:0001971 farmer's lung disease skos:exactMatch NCIT:C34605 Farmer's Lung semapv:UnspecifiedMatching MONDO:0001971 farmer's lung disease skos:exactMatch SCTID:18690003 semapv:UnspecifiedMatching MONDO:0001971 farmer's lung disease skos:exactMatch UMLS:C0015634 semapv:UnspecifiedMatching MONDO:0001971 farmer's lung disease skos:exactMatch icd11.foundation:666590509 Farmer lung semapv:UnspecifiedMatching MONDO:0001972 Brucella melitensis brucellosis skos:exactMatch DOID:14456 Brucella melitensis brucellosis semapv:UnspecifiedMatching MONDO:0001972 Brucella melitensis brucellosis skos:exactMatch MEDGEN:549869 semapv:UnspecifiedMatching MONDO:0001972 Brucella melitensis brucellosis skos:exactMatch SCTID:427999003 semapv:UnspecifiedMatching MONDO:0001972 Brucella melitensis brucellosis skos:exactMatch UMLS:C0302362 semapv:UnspecifiedMatching MONDO:0001973 Brucella abortus brucellosis skos:exactMatch DOID:14457 Brucella abortus brucellosis semapv:UnspecifiedMatching MONDO:0001973 Brucella abortus brucellosis skos:exactMatch MEDGEN:81294 semapv:UnspecifiedMatching MONDO:0001973 Brucella abortus brucellosis skos:exactMatch SCTID:427795000 semapv:UnspecifiedMatching MONDO:0001973 Brucella abortus brucellosis skos:exactMatch UMLS:C0302363 semapv:UnspecifiedMatching MONDO:0001974 hemangioma of orbit skos:exactMatch DOID:14459 hemangioma of orbit semapv:UnspecifiedMatching MONDO:0001974 hemangioma of orbit skos:exactMatch MEDGEN:233268 semapv:UnspecifiedMatching MONDO:0001974 hemangioma of orbit skos:exactMatch NCIT:C6245 Orbital Hemangioma semapv:UnspecifiedMatching MONDO:0001974 hemangioma of orbit skos:exactMatch SCTID:121951000119101 semapv:UnspecifiedMatching MONDO:0001974 hemangioma of orbit skos:exactMatch UMLS:C1335128 semapv:UnspecifiedMatching MONDO:0001975 cavernous hemangioma of orbit skos:exactMatch DOID:14463 cavernous hemangioma of orbit semapv:UnspecifiedMatching MONDO:0001975 cavernous hemangioma of orbit skos:exactMatch MEDGEN:138059 semapv:UnspecifiedMatching MONDO:0001975 cavernous hemangioma of orbit skos:exactMatch NCIT:C4546 Orbital Cavernous Hemangioma semapv:UnspecifiedMatching MONDO:0001975 cavernous hemangioma of orbit skos:exactMatch SCTID:254998002 semapv:UnspecifiedMatching MONDO:0001975 cavernous hemangioma of orbit skos:exactMatch UMLS:C0346352 semapv:UnspecifiedMatching MONDO:0001976 chorea gravidarum skos:exactMatch DOID:14483 chorea gravidarum semapv:UnspecifiedMatching MONDO:0001976 chorea gravidarum skos:exactMatch MEDGEN:75545 semapv:UnspecifiedMatching MONDO:0001976 chorea gravidarum skos:exactMatch SCTID:25113000 semapv:UnspecifiedMatching MONDO:0001976 chorea gravidarum skos:exactMatch UMLS:C0264746 semapv:UnspecifiedMatching MONDO:0001976 chorea gravidarum skos:exactMatch icd11.foundation:113562578 Chorea gravidarum semapv:UnspecifiedMatching MONDO:0001976 chorea gravidarum skos:exactMatch mesh:D020150 semapv:UnspecifiedMatching MONDO:0001977 ureteral lymphoma skos:exactMatch DOID:14489 ureteral lymphoma semapv:UnspecifiedMatching MONDO:0001977 ureteral lymphoma skos:exactMatch MEDGEN:234458 semapv:UnspecifiedMatching MONDO:0001977 ureteral lymphoma skos:exactMatch NCIT:C6175 Ureter Lymphoma semapv:UnspecifiedMatching MONDO:0001977 ureteral lymphoma skos:exactMatch UMLS:C1336876 semapv:UnspecifiedMatching MONDO:0001978 regional ureteric cancer skos:exactMatch DOID:14491 regional ureteric cancer semapv:UnspecifiedMatching MONDO:0001978 regional ureteric cancer skos:exactMatch MEDGEN:167733 semapv:UnspecifiedMatching MONDO:0001978 regional ureteric cancer skos:exactMatch NCIT:C9356 Locally Advanced Ureter Carcinoma semapv:UnspecifiedMatching MONDO:0001978 regional ureteric cancer skos:exactMatch UMLS:C0854921 semapv:UnspecifiedMatching MONDO:0001979 dumping syndrome skos:exactMatch DOID:14495 dumping syndrome semapv:UnspecifiedMatching MONDO:0001979 dumping syndrome skos:exactMatch EFO:1001307 semapv:UnspecifiedMatching MONDO:0001979 dumping syndrome skos:exactMatch MEDGEN:8501 semapv:UnspecifiedMatching MONDO:0001979 dumping syndrome skos:exactMatch NCIT:C2994 Dumping Syndrome semapv:UnspecifiedMatching MONDO:0001979 dumping syndrome skos:exactMatch UMLS:C0013288 semapv:UnspecifiedMatching MONDO:0001979 dumping syndrome skos:exactMatch icd11.foundation:237191235 Dumping syndrome semapv:UnspecifiedMatching MONDO:0001979 dumping syndrome skos:exactMatch mesh:D004377 semapv:UnspecifiedMatching MONDO:0001982 Niemann-Pick disease skos:exactMatch DOID:14504 Niemann-Pick disease semapv:UnspecifiedMatching MONDO:0001982 Niemann-Pick disease skos:exactMatch EFO:1001380 semapv:UnspecifiedMatching MONDO:0001982 Niemann-Pick disease skos:exactMatch ICD10CM:E75.24 Niemann-Pick disease semapv:UnspecifiedMatching MONDO:0001982 Niemann-Pick disease skos:exactMatch MEDGEN:10348 semapv:UnspecifiedMatching MONDO:0001982 Niemann-Pick disease skos:exactMatch NCIT:C61269 Niemann-Pick Disease semapv:UnspecifiedMatching MONDO:0001982 Niemann-Pick disease skos:exactMatch SCTID:58459009 semapv:UnspecifiedMatching MONDO:0001982 Niemann-Pick disease skos:exactMatch UMLS:C0028064 semapv:UnspecifiedMatching MONDO:0001982 Niemann-Pick disease skos:exactMatch icd11.foundation:398872780 Niemann-Pick disease semapv:UnspecifiedMatching MONDO:0001982 Niemann-Pick disease skos:exactMatch mesh:D009542 semapv:UnspecifiedMatching MONDO:0001983 peripheral degeneration of cornea skos:exactMatch DOID:14507 peripheral degeneration of cornea semapv:UnspecifiedMatching MONDO:0001983 peripheral degeneration of cornea skos:exactMatch MEDGEN:509800 semapv:UnspecifiedMatching MONDO:0001983 peripheral degeneration of cornea skos:exactMatch SCTID:89182000 semapv:UnspecifiedMatching MONDO:0001983 peripheral degeneration of cornea skos:exactMatch UMLS:C0155123 semapv:UnspecifiedMatching MONDO:0001984 candidal paronychia skos:exactMatch DOID:14512 candidal paronychia semapv:UnspecifiedMatching MONDO:0001984 candidal paronychia skos:exactMatch MEDGEN:705794 semapv:UnspecifiedMatching MONDO:0001984 candidal paronychia skos:exactMatch SCTID:187014000 semapv:UnspecifiedMatching MONDO:0001984 candidal paronychia skos:exactMatch UMLS:C1282977 semapv:UnspecifiedMatching MONDO:0001985 partial arterial retinal occlusion skos:exactMatch DOID:14522 partial arterial retinal occlusion semapv:UnspecifiedMatching MONDO:0001985 partial arterial retinal occlusion skos:exactMatch MEDGEN:57599 semapv:UnspecifiedMatching MONDO:0001985 partial arterial retinal occlusion skos:exactMatch NCIT:C35192 Partial Retinal Arterial Occlusion semapv:UnspecifiedMatching MONDO:0001985 partial arterial retinal occlusion skos:exactMatch SCTID:776009 semapv:UnspecifiedMatching MONDO:0001985 partial arterial retinal occlusion skos:exactMatch UMLS:C0154839 semapv:UnspecifiedMatching MONDO:0001986 Argyll Robertson pupil skos:exactMatch DOID:14523 Argyll Robertson pupil semapv:UnspecifiedMatching MONDO:0001986 Argyll Robertson pupil skos:exactMatch ICD10CM:H57.01 Argyll Robertson pupil, atypical semapv:UnspecifiedMatching MONDO:0001986 Argyll Robertson pupil skos:exactMatch MEDGEN:536150 semapv:UnspecifiedMatching MONDO:0001986 Argyll Robertson pupil skos:exactMatch SCTID:21011008 semapv:UnspecifiedMatching MONDO:0001986 Argyll Robertson pupil skos:exactMatch UMLS:C0234668 semapv:UnspecifiedMatching MONDO:0001986 Argyll Robertson pupil skos:exactMatch icd11.foundation:1086796982 Argyll Robertson pupil semapv:UnspecifiedMatching MONDO:0001987 senile degeneration of brain skos:exactMatch DOID:14524 senile degeneration of brain semapv:UnspecifiedMatching MONDO:0001987 senile degeneration of brain skos:exactMatch MEDGEN:509626 semapv:UnspecifiedMatching MONDO:0001987 senile degeneration of brain skos:exactMatch SCTID:45864009 semapv:UnspecifiedMatching MONDO:0001987 senile degeneration of brain skos:exactMatch UMLS:C0154669 semapv:UnspecifiedMatching MONDO:0001988 external pathological resorption skos:exactMatch DOID:14529 external pathological resorption semapv:UnspecifiedMatching MONDO:0001988 external pathological resorption skos:exactMatch MEDGEN:540236 semapv:UnspecifiedMatching MONDO:0001988 external pathological resorption skos:exactMatch SCTID:41918006 semapv:UnspecifiedMatching MONDO:0001988 external pathological resorption skos:exactMatch UMLS:C0266878 semapv:UnspecifiedMatching MONDO:0001989 atrophic glossitis skos:exactMatch DOID:1453 atrophic glossitis semapv:UnspecifiedMatching MONDO:0001989 atrophic glossitis skos:exactMatch ICD10CM:K14.4 Atrophy of tongue papillae semapv:UnspecifiedMatching MONDO:0001989 atrophic glossitis skos:exactMatch MEDGEN:510156 semapv:UnspecifiedMatching MONDO:0001989 atrophic glossitis skos:exactMatch SCTID:9491003 semapv:UnspecifiedMatching MONDO:0001989 atrophic glossitis skos:exactMatch UMLS:C0155964 semapv:UnspecifiedMatching MONDO:0001990 malignant cardiac peripheral nerve sheath neoplasm skos:exactMatch DOID:14534 malignant cardiac peripheral nerve sheath neoplasm semapv:UnspecifiedMatching MONDO:0001990 malignant cardiac peripheral nerve sheath neoplasm skos:exactMatch MEDGEN:233146 semapv:UnspecifiedMatching MONDO:0001990 malignant cardiac peripheral nerve sheath neoplasm skos:exactMatch NCIT:C5367 Cardiac Malignant Peripheral Nerve Sheath Tumor semapv:UnspecifiedMatching MONDO:0001990 malignant cardiac peripheral nerve sheath neoplasm skos:exactMatch UMLS:C1334569 semapv:UnspecifiedMatching MONDO:0001991 malignant cardiac germ cell tumor skos:exactMatch DOID:14535 malignant cardiac germ cell tumor semapv:UnspecifiedMatching MONDO:0001991 malignant cardiac germ cell tumor skos:exactMatch MEDGEN:233143 semapv:UnspecifiedMatching MONDO:0001991 malignant cardiac germ cell tumor skos:exactMatch NCIT:C5371 Malignant Cardiac Germ Cell Tumor semapv:UnspecifiedMatching MONDO:0001991 malignant cardiac germ cell tumor skos:exactMatch UMLS:C1334566 semapv:UnspecifiedMatching MONDO:0001992 rete testis adenocarcinoma skos:exactMatch DOID:14544 rete testis adenocarcinoma semapv:UnspecifiedMatching MONDO:0001992 rete testis adenocarcinoma skos:exactMatch MEDGEN:209023 semapv:UnspecifiedMatching MONDO:0001992 rete testis adenocarcinoma skos:exactMatch NCIT:C8955 Rete Testis Adenocarcinoma semapv:UnspecifiedMatching MONDO:0001992 rete testis adenocarcinoma skos:exactMatch UMLS:C0863024 semapv:UnspecifiedMatching MONDO:0001993 seminal vesicle adenocarcinoma skos:exactMatch DOID:14545 seminal vesicle adenocarcinoma semapv:UnspecifiedMatching MONDO:0001993 seminal vesicle adenocarcinoma skos:exactMatch MEDGEN:311271 semapv:UnspecifiedMatching MONDO:0001993 seminal vesicle adenocarcinoma skos:exactMatch NCIT:C39906 Seminal Vesicle Adenocarcinoma semapv:UnspecifiedMatching MONDO:0001993 seminal vesicle adenocarcinoma skos:exactMatch UMLS:C1519233 semapv:UnspecifiedMatching MONDO:0001994 sphenoidal sinus cancer skos:exactMatch DOID:14546 sphenoidal sinus cancer semapv:UnspecifiedMatching MONDO:0001994 sphenoidal sinus cancer skos:exactMatch ICD10CM:C31.3 Malignant neoplasm of sphenoid sinus semapv:UnspecifiedMatching MONDO:0001994 sphenoidal sinus cancer skos:exactMatch MEDGEN:102273 semapv:UnspecifiedMatching MONDO:0001994 sphenoidal sinus cancer skos:exactMatch NCIT:C3543 Malignant Sphenoid Sinus Neoplasm semapv:UnspecifiedMatching MONDO:0001994 sphenoidal sinus cancer skos:exactMatch SCTID:363428005 semapv:UnspecifiedMatching MONDO:0001994 sphenoidal sinus cancer skos:exactMatch UMLS:C0153479 semapv:UnspecifiedMatching MONDO:0001995 sphenoid sinus squamous cell carcinoma skos:exactMatch DOID:14547 sphenoid sinus squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0001995 sphenoid sinus squamous cell carcinoma skos:exactMatch MEDGEN:234802 semapv:UnspecifiedMatching MONDO:0001995 sphenoid sinus squamous cell carcinoma skos:exactMatch NCIT:C6066 Sphenoid Sinus Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0001995 sphenoid sinus squamous cell carcinoma skos:exactMatch SCTID:707355002 semapv:UnspecifiedMatching MONDO:0001995 sphenoid sinus squamous cell carcinoma skos:exactMatch UMLS:C1336039 semapv:UnspecifiedMatching MONDO:0001996 steroid-induced glaucoma - borderline skos:exactMatch DOID:14548 steroid-induced glaucoma - borderline semapv:UnspecifiedMatching MONDO:0001996 steroid-induced glaucoma - borderline skos:exactMatch MEDGEN:573233 semapv:UnspecifiedMatching MONDO:0001996 steroid-induced glaucoma - borderline skos:exactMatch SCTID:302895007 semapv:UnspecifiedMatching MONDO:0001996 steroid-induced glaucoma - borderline skos:exactMatch UMLS:C0339572 semapv:UnspecifiedMatching MONDO:0001997 root resorption skos:exactMatch DOID:14550 root resorption semapv:UnspecifiedMatching MONDO:0001997 root resorption skos:exactMatch MEDGEN:11268 semapv:UnspecifiedMatching MONDO:0001997 root resorption skos:exactMatch UMLS:C0035851 semapv:UnspecifiedMatching MONDO:0001997 root resorption skos:exactMatch mesh:D012391 semapv:UnspecifiedMatching MONDO:0001998 Foster-Kennedy syndrome skos:exactMatch DOID:14555 Foster-Kennedy syndrome semapv:UnspecifiedMatching MONDO:0001998 Foster-Kennedy syndrome skos:exactMatch EFO:1001330 semapv:UnspecifiedMatching MONDO:0001998 Foster-Kennedy syndrome skos:exactMatch ICD10CM:H47.14 Foster-Kennedy syndrome semapv:UnspecifiedMatching MONDO:0001998 Foster-Kennedy syndrome skos:exactMatch MEDGEN:57505 semapv:UnspecifiedMatching MONDO:0001998 Foster-Kennedy syndrome skos:exactMatch SCTID:87764000 semapv:UnspecifiedMatching MONDO:0001998 Foster-Kennedy syndrome skos:exactMatch UMLS:C0152112 semapv:UnspecifiedMatching MONDO:0001998 Foster-Kennedy syndrome skos:exactMatch icd11.foundation:288363660 Foster-Kennedy syndrome semapv:UnspecifiedMatching MONDO:0001999 idiopathic pulmonary arterial hypertension skos:exactMatch DOID:14557 primary pulmonary hypertension semapv:UnspecifiedMatching MONDO:0001999 idiopathic pulmonary arterial hypertension skos:exactMatch ICD10CM:I27.0 Primary pulmonary hypertension semapv:UnspecifiedMatching MONDO:0001999 idiopathic pulmonary arterial hypertension skos:exactMatch MEDGEN:468368 semapv:UnspecifiedMatching MONDO:0001999 idiopathic pulmonary arterial hypertension skos:exactMatch Orphanet:275766 Idiopathic pulmonary arterial hypertension semapv:UnspecifiedMatching MONDO:0001999 idiopathic pulmonary arterial hypertension skos:exactMatch SCTID:697898008 semapv:UnspecifiedMatching MONDO:0001999 idiopathic pulmonary arterial hypertension skos:exactMatch UMLS:C3203102 semapv:UnspecifiedMatching MONDO:0001999 idiopathic pulmonary arterial hypertension skos:exactMatch icd11.foundation:265520344 Idiopathic pulmonary arterial hypertension semapv:UnspecifiedMatching MONDO:0002000 anaerobic meningitis skos:exactMatch DOID:14559 anaerobic meningitis semapv:UnspecifiedMatching MONDO:0002000 anaerobic meningitis skos:exactMatch MEDGEN:678523 semapv:UnspecifiedMatching MONDO:0002000 anaerobic meningitis skos:exactMatch SCTID:445059005 semapv:UnspecifiedMatching MONDO:0002000 anaerobic meningitis skos:exactMatch UMLS:C0854214 semapv:UnspecifiedMatching MONDO:0002002 postsurgical hypothyroidism skos:exactMatch DOID:1458 postsurgical hypothyroidism semapv:UnspecifiedMatching MONDO:0002002 postsurgical hypothyroidism skos:exactMatch MEDGEN:509534 semapv:UnspecifiedMatching MONDO:0002002 postsurgical hypothyroidism skos:exactMatch SCTID:27059002 semapv:UnspecifiedMatching MONDO:0002002 postsurgical hypothyroidism skos:exactMatch UMLS:C0154157 semapv:UnspecifiedMatching MONDO:0002004 atheroembolism of kidney skos:exactMatch DOID:1460 atheroembolism of kidney semapv:UnspecifiedMatching MONDO:0002004 atheroembolism of kidney skos:exactMatch ICD10CM:I75.81 Atheroembolism of kidney semapv:UnspecifiedMatching MONDO:0002004 atheroembolism of kidney skos:exactMatch MEDGEN:541484 semapv:UnspecifiedMatching MONDO:0002004 atheroembolism of kidney skos:exactMatch UMLS:C0268792 semapv:UnspecifiedMatching MONDO:0002006 serous labyrinthitis skos:exactMatch DOID:1467 serous labyrinthitis semapv:UnspecifiedMatching MONDO:0002006 serous labyrinthitis skos:exactMatch MEDGEN:509993 semapv:UnspecifiedMatching MONDO:0002006 serous labyrinthitis skos:exactMatch SCTID:41674001 semapv:UnspecifiedMatching MONDO:0002006 serous labyrinthitis skos:exactMatch UMLS:C0155504 semapv:UnspecifiedMatching MONDO:0002008 labyrinthitis skos:exactMatch DOID:1468 labyrinthitis semapv:UnspecifiedMatching MONDO:0002008 labyrinthitis skos:exactMatch DOID:3930 otitis interna semapv:UnspecifiedMatching MONDO:0002008 labyrinthitis skos:exactMatch EFO:0009604 semapv:UnspecifiedMatching MONDO:0002008 labyrinthitis skos:exactMatch ICD10CM:H83.0 Labyrinthitis semapv:UnspecifiedMatching MONDO:0002008 labyrinthitis skos:exactMatch MEDGEN:5991 semapv:UnspecifiedMatching MONDO:0002008 labyrinthitis skos:exactMatch NCIT:C128369 Labyrinthitis semapv:UnspecifiedMatching MONDO:0002008 labyrinthitis skos:exactMatch SCTID:23919004 semapv:UnspecifiedMatching MONDO:0002008 labyrinthitis skos:exactMatch UMLS:C0022893 semapv:UnspecifiedMatching MONDO:0002008 labyrinthitis skos:exactMatch icd11.foundation:901550793 Labyrinthitis semapv:UnspecifiedMatching MONDO:0002008 labyrinthitis skos:exactMatch mesh:D007762 semapv:UnspecifiedMatching MONDO:0002009 major depressive disorder skos:exactMatch DOID:1470 major depressive disorder semapv:UnspecifiedMatching MONDO:0002009 major depressive disorder skos:exactMatch EFO:0003761 semapv:UnspecifiedMatching MONDO:0002009 major depressive disorder skos:exactMatch MEDGEN:266123 semapv:UnspecifiedMatching MONDO:0002009 major depressive disorder skos:exactMatch NCIT:C35094 Unipolar Depression semapv:UnspecifiedMatching MONDO:0002009 major depressive disorder skos:exactMatch OMIM:608516 major depressive disorder semapv:UnspecifiedMatching MONDO:0002009 major depressive disorder skos:exactMatch SCTID:370143000 semapv:UnspecifiedMatching MONDO:0002009 major depressive disorder skos:exactMatch UMLS:C1269683 semapv:UnspecifiedMatching MONDO:0002009 major depressive disorder skos:exactMatch mesh:D003865 semapv:UnspecifiedMatching MONDO:0002010 FG syndrome skos:exactMatch DOID:14711 FG syndrome semapv:UnspecifiedMatching MONDO:0002010 FG syndrome skos:exactMatch EFO:0009297 semapv:UnspecifiedMatching MONDO:0002010 FG syndrome skos:exactMatch MEDGEN:113106 semapv:UnspecifiedMatching MONDO:0002010 FG syndrome skos:exactMatch OMIMPS:305450 FG syndrome semapv:UnspecifiedMatching MONDO:0002010 FG syndrome skos:exactMatch SCTID:49984004 semapv:UnspecifiedMatching MONDO:0002010 FG syndrome skos:exactMatch UMLS:C0220769 semapv:UnspecifiedMatching MONDO:0002010 FG syndrome skos:exactMatch icd11.foundation:156523187 FG syndrome semapv:UnspecifiedMatching MONDO:0002012 methylmalonic acidemia skos:exactMatch DOID:14749 methylmalonic acidemia semapv:UnspecifiedMatching MONDO:0002012 methylmalonic acidemia skos:exactMatch ICD10CM:E71.120 Methylmalonic acidemia semapv:UnspecifiedMatching MONDO:0002012 methylmalonic acidemia skos:exactMatch MEDGEN:120654 semapv:UnspecifiedMatching MONDO:0002012 methylmalonic acidemia skos:exactMatch NCIT:C98986 Methylmalonic Acidemia semapv:UnspecifiedMatching MONDO:0002012 methylmalonic acidemia skos:exactMatch OMIMPS:251000 Methylmalonic aciduria semapv:UnspecifiedMatching MONDO:0002012 methylmalonic acidemia skos:exactMatch SCTID:42393006 semapv:UnspecifiedMatching MONDO:0002012 methylmalonic acidemia skos:exactMatch UMLS:C0268583 semapv:UnspecifiedMatching MONDO:0002012 methylmalonic acidemia skos:exactMatch mesh:C537358 semapv:UnspecifiedMatching MONDO:0002013 lymphangioma skos:exactMatch DOID:1475 lymphangioma semapv:UnspecifiedMatching MONDO:0002013 lymphangioma skos:exactMatch MEDGEN:6153 semapv:UnspecifiedMatching MONDO:0002013 lymphangioma skos:exactMatch NCIT:C8965 Lymphangioma semapv:UnspecifiedMatching MONDO:0002013 lymphangioma skos:exactMatch Orphanet:2415 Rare lymphatic malformation semapv:UnspecifiedMatching MONDO:0002013 lymphangioma skos:exactMatch SCTID:254836000 semapv:UnspecifiedMatching MONDO:0002013 lymphangioma skos:exactMatch SCTID:400178008 semapv:UnspecifiedMatching MONDO:0002013 lymphangioma skos:exactMatch UMLS:C0024221 semapv:UnspecifiedMatching MONDO:0002013 lymphangioma skos:exactMatch mesh:D008202 semapv:UnspecifiedMatching MONDO:0002014 autosomal recessive Ehlers-Danlos syndrome, vascular type skos:exactMatch DOID:14759 autosomal recessive type IV Ehlers-Danlos syndrome semapv:UnspecifiedMatching MONDO:0002014 autosomal recessive Ehlers-Danlos syndrome, vascular type skos:exactMatch MEDGEN:541287 semapv:UnspecifiedMatching MONDO:0002014 autosomal recessive Ehlers-Danlos syndrome, vascular type skos:exactMatch SCTID:70610001 semapv:UnspecifiedMatching MONDO:0002014 autosomal recessive Ehlers-Danlos syndrome, vascular type skos:exactMatch UMLS:C0268340 semapv:UnspecifiedMatching MONDO:0002017 olivopontocerebellar atrophy skos:exactMatch DOID:14784 olivopontocerebellar atrophy semapv:UnspecifiedMatching MONDO:0002017 olivopontocerebellar atrophy skos:exactMatch MEDGEN:10435 semapv:UnspecifiedMatching MONDO:0002017 olivopontocerebellar atrophy skos:exactMatch NCIT:C84947 Olivopontocerebellar Atrophy semapv:UnspecifiedMatching MONDO:0002017 olivopontocerebellar atrophy skos:exactMatch SCTID:67761004 semapv:UnspecifiedMatching MONDO:0002017 olivopontocerebellar atrophy skos:exactMatch UMLS:C0028968 semapv:UnspecifiedMatching MONDO:0002017 olivopontocerebellar atrophy skos:exactMatch icd11.foundation:1467584080 Olivopontocerebellar atrophy semapv:UnspecifiedMatching MONDO:0002017 olivopontocerebellar atrophy skos:exactMatch mesh:D009849 semapv:UnspecifiedMatching MONDO:0002021 gingival disorder skos:exactMatch DOID:1483 gingival disease semapv:UnspecifiedMatching MONDO:0002021 gingival disorder skos:exactMatch EFO:0009670 semapv:UnspecifiedMatching MONDO:0002021 gingival disorder skos:exactMatch MEDGEN:42217 semapv:UnspecifiedMatching MONDO:0002021 gingival disorder skos:exactMatch NCIT:C173795 Gingival Disorder semapv:UnspecifiedMatching MONDO:0002021 gingival disorder skos:exactMatch SCTID:18718003 semapv:UnspecifiedMatching MONDO:0002021 gingival disorder skos:exactMatch UMLS:C0017563 semapv:UnspecifiedMatching MONDO:0002021 gingival disorder skos:exactMatch mesh:D005882 semapv:UnspecifiedMatching MONDO:0002022 disorder of orbital region skos:exactMatch ICD10CM:H00-H59 Diseases of the eye and adnexa (H00-H59) semapv:UnspecifiedMatching MONDO:0002022 disorder of orbital region skos:exactMatch MEDGEN:1863347 semapv:UnspecifiedMatching MONDO:0002022 disorder of orbital region skos:exactMatch SCTID:371409005 semapv:UnspecifiedMatching MONDO:0002022 disorder of orbital region skos:exactMatch UMLS:C5886742 semapv:UnspecifiedMatching MONDO:0002025 psychiatric disorder skos:exactMatch DOID:150 disease of mental health semapv:UnspecifiedMatching MONDO:0002025 psychiatric disorder skos:exactMatch NCIT:C2893 Psychiatric Disorder semapv:UnspecifiedMatching MONDO:0002025 psychiatric disorder skos:exactMatch mesh:D001523 semapv:UnspecifiedMatching MONDO:0002026 candidiasis skos:exactMatch DOID:1508 candidiasis semapv:UnspecifiedMatching MONDO:0002026 candidiasis skos:exactMatch ICD10CM:B37 Candidiasis semapv:UnspecifiedMatching MONDO:0002026 candidiasis skos:exactMatch ICD10WHO:B37 Candidiasis semapv:UnspecifiedMatching MONDO:0002026 candidiasis skos:exactMatch MEDGEN:14299 semapv:UnspecifiedMatching MONDO:0002026 candidiasis skos:exactMatch NCIT:C26711 Candidiasis semapv:UnspecifiedMatching MONDO:0002026 candidiasis skos:exactMatch SCTID:78048006 semapv:UnspecifiedMatching MONDO:0002026 candidiasis skos:exactMatch UMLS:C0006840 semapv:UnspecifiedMatching MONDO:0002026 candidiasis skos:exactMatch mesh:D002177 semapv:UnspecifiedMatching MONDO:0002027 avoidant personality disorder skos:exactMatch DOID:1509 avoidant personality disorder semapv:UnspecifiedMatching MONDO:0002027 avoidant personality disorder skos:exactMatch ICD10CM:F60.6 Avoidant personality disorder semapv:UnspecifiedMatching MONDO:0002027 avoidant personality disorder skos:exactMatch MEDGEN:13985 semapv:UnspecifiedMatching MONDO:0002027 avoidant personality disorder skos:exactMatch NCIT:C92636 Avoidant Personality Disorder semapv:UnspecifiedMatching MONDO:0002027 avoidant personality disorder skos:exactMatch SCTID:231528008 semapv:UnspecifiedMatching MONDO:0002027 avoidant personality disorder skos:exactMatch UMLS:C0004444 semapv:UnspecifiedMatching MONDO:0002027 avoidant personality disorder skos:exactMatch icd11.foundation:429615620 Avoidant personality disorder semapv:UnspecifiedMatching MONDO:0002028 personality disorder skos:exactMatch DOID:1510 personality disorder semapv:UnspecifiedMatching MONDO:0002028 personality disorder skos:exactMatch MEDGEN:45827 semapv:UnspecifiedMatching MONDO:0002028 personality disorder skos:exactMatch NCIT:C34922 Personality Disorder semapv:UnspecifiedMatching MONDO:0002028 personality disorder skos:exactMatch SCTID:33449004 semapv:UnspecifiedMatching MONDO:0002028 personality disorder skos:exactMatch UMLS:C0031212 semapv:UnspecifiedMatching MONDO:0002028 personality disorder skos:exactMatch icd11.foundation:941859884 Personality disorder semapv:UnspecifiedMatching MONDO:0002029 chronic gonorrhea of cervix skos:exactMatch DOID:1512 chronic gonorrhea of cervix semapv:UnspecifiedMatching MONDO:0002029 chronic gonorrhea of cervix skos:exactMatch MEDGEN:509203 semapv:UnspecifiedMatching MONDO:0002029 chronic gonorrhea of cervix skos:exactMatch SCTID:76802005 semapv:UnspecifiedMatching MONDO:0002029 chronic gonorrhea of cervix skos:exactMatch UMLS:C0153206 semapv:UnspecifiedMatching MONDO:0002030 chronic cervicitis skos:exactMatch DOID:1513 chronic cervicitis semapv:UnspecifiedMatching MONDO:0002030 chronic cervicitis skos:exactMatch MEDGEN:75711 semapv:UnspecifiedMatching MONDO:0002030 chronic cervicitis skos:exactMatch NCIT:C27057 Chronic Cervicitis semapv:UnspecifiedMatching MONDO:0002030 chronic cervicitis skos:exactMatch SCTID:56728002 semapv:UnspecifiedMatching MONDO:0002030 chronic cervicitis skos:exactMatch UMLS:C0269062 semapv:UnspecifiedMatching MONDO:0002030 chronic cervicitis skos:exactMatch icd11.foundation:1495469029 Chronic cervicitis semapv:UnspecifiedMatching MONDO:0002031 cecal disorder skos:exactMatch DOID:1518 cecal disease semapv:UnspecifiedMatching MONDO:0002031 cecal disorder skos:exactMatch MEDGEN:2921 semapv:UnspecifiedMatching MONDO:0002031 cecal disorder skos:exactMatch SCTID:128525008 semapv:UnspecifiedMatching MONDO:0002031 cecal disorder skos:exactMatch UMLS:C0007527 semapv:UnspecifiedMatching MONDO:0002031 cecal disorder skos:exactMatch mesh:D002429 semapv:UnspecifiedMatching MONDO:0002032 colon carcinoma skos:exactMatch DOID:1520 colon carcinoma semapv:UnspecifiedMatching MONDO:0002032 colon carcinoma skos:exactMatch EFO:1001950 semapv:UnspecifiedMatching MONDO:0002032 colon carcinoma skos:exactMatch MEDGEN:147065 semapv:UnspecifiedMatching MONDO:0002032 colon carcinoma skos:exactMatch NCIT:C4910 Colon Carcinoma semapv:UnspecifiedMatching MONDO:0002032 colon carcinoma skos:exactMatch SCTID:269533000 semapv:UnspecifiedMatching MONDO:0002032 colon carcinoma skos:exactMatch UMLS:C0699790 semapv:UnspecifiedMatching MONDO:0002032 colon carcinoma skos:exactMatch icd11.foundation:865099988 Colon carcinoma semapv:UnspecifiedMatching MONDO:0002033 cecum cancer skos:exactMatch DOID:1521 cecum cancer semapv:UnspecifiedMatching MONDO:0002033 cecum cancer skos:exactMatch ICD10CM:C18.0 Malignant neoplasm of cecum semapv:UnspecifiedMatching MONDO:0002033 cecum cancer skos:exactMatch MEDGEN:57557 semapv:UnspecifiedMatching MONDO:0002033 cecum cancer skos:exactMatch NCIT:C9329 Malignant Cecum Neoplasm semapv:UnspecifiedMatching MONDO:0002033 cecum cancer skos:exactMatch UMLS:C0153437 semapv:UnspecifiedMatching MONDO:0002033 cecum cancer skos:exactMatch icd11.foundation:361612400 Malignant neoplasm of caecum semapv:UnspecifiedMatching MONDO:0002034 cecum lymphoma skos:exactMatch DOID:1522 cecum lymphoma semapv:UnspecifiedMatching MONDO:0002034 cecum lymphoma skos:exactMatch MEDGEN:232035 semapv:UnspecifiedMatching MONDO:0002034 cecum lymphoma skos:exactMatch NCIT:C5515 Cecum Lymphoma semapv:UnspecifiedMatching MONDO:0002034 cecum lymphoma skos:exactMatch UMLS:C1332867 semapv:UnspecifiedMatching MONDO:0002035 colon lymphoma skos:exactMatch DOID:1523 colon lymphoma semapv:UnspecifiedMatching MONDO:0002035 colon lymphoma skos:exactMatch MEDGEN:101033 semapv:UnspecifiedMatching MONDO:0002035 colon lymphoma skos:exactMatch NCIT:C4793 Colon Lymphoma semapv:UnspecifiedMatching MONDO:0002035 colon lymphoma skos:exactMatch SCTID:133751000119102 semapv:UnspecifiedMatching MONDO:0002035 colon lymphoma skos:exactMatch UMLS:C0519037 semapv:UnspecifiedMatching MONDO:0002036 penile disorder skos:exactMatch DOID:1529 penile disease semapv:UnspecifiedMatching MONDO:0002036 penile disorder skos:exactMatch MEDGEN:10627 semapv:UnspecifiedMatching MONDO:0002036 penile disorder skos:exactMatch NCIT:C26846 Penile Disorder semapv:UnspecifiedMatching MONDO:0002036 penile disorder skos:exactMatch SCTID:33958003 semapv:UnspecifiedMatching MONDO:0002036 penile disorder skos:exactMatch UMLS:C0030846 semapv:UnspecifiedMatching MONDO:0002036 penile disorder skos:exactMatch mesh:D010409 semapv:UnspecifiedMatching MONDO:0002037 pleural disorder skos:exactMatch DOID:1532 pleural disease semapv:UnspecifiedMatching MONDO:0002037 pleural disorder skos:exactMatch MEDGEN:10804 semapv:UnspecifiedMatching MONDO:0002037 pleural disorder skos:exactMatch NCIT:C26859 Pleural Disorder semapv:UnspecifiedMatching MONDO:0002037 pleural disorder skos:exactMatch SCTID:88075009 semapv:UnspecifiedMatching MONDO:0002037 pleural disorder skos:exactMatch UMLS:C0032226 semapv:UnspecifiedMatching MONDO:0002037 pleural disorder skos:exactMatch mesh:D010995 semapv:UnspecifiedMatching MONDO:0002038 head and neck carcinoma skos:exactMatch DOID:1542 head and neck carcinoma semapv:UnspecifiedMatching MONDO:0002038 head and neck carcinoma skos:exactMatch MEDGEN:854345 semapv:UnspecifiedMatching MONDO:0002038 head and neck carcinoma skos:exactMatch NCIT:C35850 Head and Neck Carcinoma semapv:UnspecifiedMatching MONDO:0002038 head and neck carcinoma skos:exactMatch UMLS:C3887461 semapv:UnspecifiedMatching MONDO:0002039 cognitive disorder skos:exactMatch DOID:1561 cognitive disorder semapv:UnspecifiedMatching MONDO:0002039 cognitive disorder skos:exactMatch MEDGEN:40371 semapv:UnspecifiedMatching MONDO:0002039 cognitive disorder skos:exactMatch NCIT:C92196 Cognitive Disorder semapv:UnspecifiedMatching MONDO:0002039 cognitive disorder skos:exactMatch SCTID:443265004 semapv:UnspecifiedMatching MONDO:0002039 cognitive disorder skos:exactMatch UMLS:C0009241 semapv:UnspecifiedMatching MONDO:0002039 cognitive disorder skos:exactMatch mesh:D019965 semapv:UnspecifiedMatching MONDO:0002040 dermatomycosis skos:exactMatch DOID:1563 dermatomycosis semapv:UnspecifiedMatching MONDO:0002040 dermatomycosis skos:exactMatch MEDGEN:8330 semapv:UnspecifiedMatching MONDO:0002040 dermatomycosis skos:exactMatch UMLS:C0011630 semapv:UnspecifiedMatching MONDO:0002040 dermatomycosis skos:exactMatch mesh:D003881 semapv:UnspecifiedMatching MONDO:0002041 fungal infectious disease skos:exactMatch DOID:1564 fungal infectious disease semapv:UnspecifiedMatching MONDO:0002041 fungal infectious disease skos:exactMatch ICD10CM:B35-B49 Mycoses (B35-B49) semapv:UnspecifiedMatching MONDO:0002041 fungal infectious disease skos:exactMatch MEDGEN:6486 semapv:UnspecifiedMatching MONDO:0002041 fungal infectious disease skos:exactMatch NCIT:C3245 Fungal Infection semapv:UnspecifiedMatching MONDO:0002041 fungal infectious disease skos:exactMatch SCTID:3218000 semapv:UnspecifiedMatching MONDO:0002041 fungal infectious disease skos:exactMatch UMLS:C0026946 semapv:UnspecifiedMatching MONDO:0002041 fungal infectious disease skos:exactMatch mesh:D009181 semapv:UnspecifiedMatching MONDO:0002042 mechanical ectropion skos:exactMatch DOID:1569 mechanical ectropion semapv:UnspecifiedMatching MONDO:0002042 mechanical ectropion skos:exactMatch MEDGEN:509842 semapv:UnspecifiedMatching MONDO:0002042 mechanical ectropion skos:exactMatch SCTID:45020000 semapv:UnspecifiedMatching MONDO:0002042 mechanical ectropion skos:exactMatch UMLS:C0155194 semapv:UnspecifiedMatching MONDO:0002043 ectropion skos:exactMatch DOID:1570 ectropion semapv:UnspecifiedMatching MONDO:0002043 ectropion skos:exactMatch ICD10CM:H02.1 Ectropion of eyelid semapv:UnspecifiedMatching MONDO:0002043 ectropion skos:exactMatch MEDGEN:4448 semapv:UnspecifiedMatching MONDO:0002043 ectropion skos:exactMatch SCTID:62909004 semapv:UnspecifiedMatching MONDO:0002043 ectropion skos:exactMatch UMLS:C0013592 semapv:UnspecifiedMatching MONDO:0002043 ectropion skos:exactMatch mesh:D004483 semapv:UnspecifiedMatching MONDO:0002044 spastic ectropion skos:exactMatch DOID:1571 spastic ectropion semapv:UnspecifiedMatching MONDO:0002044 spastic ectropion skos:exactMatch MEDGEN:509843 semapv:UnspecifiedMatching MONDO:0002044 spastic ectropion skos:exactMatch SCTID:80846000 semapv:UnspecifiedMatching MONDO:0002044 spastic ectropion skos:exactMatch UMLS:C0155195 semapv:UnspecifiedMatching MONDO:0002045 communicating hydrocephalus skos:exactMatch DOID:1573 communicating hydrocephalus semapv:UnspecifiedMatching MONDO:0002045 communicating hydrocephalus skos:exactMatch ICD10CM:G91.0 Communicating hydrocephalus semapv:UnspecifiedMatching MONDO:0002045 communicating hydrocephalus skos:exactMatch MEDGEN:1058 semapv:UnspecifiedMatching MONDO:0002045 communicating hydrocephalus skos:exactMatch NCIT:C34501 Communicating Hydrocephalus semapv:UnspecifiedMatching MONDO:0002045 communicating hydrocephalus skos:exactMatch SCTID:271569006 semapv:UnspecifiedMatching MONDO:0002045 communicating hydrocephalus skos:exactMatch UMLS:C0009451 semapv:UnspecifiedMatching MONDO:0002045 communicating hydrocephalus skos:exactMatch icd11.foundation:186577228 Communicating hydrocephalus semapv:UnspecifiedMatching MONDO:0002046 alcohol abuse skos:exactMatch DOID:1574 alcohol use disorder semapv:UnspecifiedMatching MONDO:0002046 alcohol abuse skos:exactMatch ICD10CM:F10.1 Alcohol abuse semapv:UnspecifiedMatching MONDO:0002046 alcohol abuse skos:exactMatch MEDGEN:39339 semapv:UnspecifiedMatching MONDO:0002046 alcohol abuse skos:exactMatch SCTID:15167005 semapv:UnspecifiedMatching MONDO:0002046 alcohol abuse skos:exactMatch UMLS:C0085762 semapv:UnspecifiedMatching MONDO:0002046 alcohol abuse skos:exactMatch mesh:D000437 semapv:UnspecifiedMatching MONDO:0002047 pulmonary systemic sclerosis skos:exactMatch DOID:1578 pulmonary systemic sclerosis semapv:UnspecifiedMatching MONDO:0002047 pulmonary systemic sclerosis skos:exactMatch MEDGEN:573414 semapv:UnspecifiedMatching MONDO:0002047 pulmonary systemic sclerosis skos:exactMatch SCTID:196133001 semapv:UnspecifiedMatching MONDO:0002047 pulmonary systemic sclerosis skos:exactMatch UMLS:C0339904 semapv:UnspecifiedMatching MONDO:0002048 thrombocytopenia due to immune destruction skos:exactMatch DOID:1587 thrombocytopenia due to platelet alloimmunization semapv:UnspecifiedMatching MONDO:0002048 thrombocytopenia due to immune destruction skos:exactMatch MEDGEN:75778 semapv:UnspecifiedMatching MONDO:0002048 thrombocytopenia due to immune destruction skos:exactMatch NCIT:C3991 Thrombocytopenia Due to Immune Destruction semapv:UnspecifiedMatching MONDO:0002048 thrombocytopenia due to immune destruction skos:exactMatch UMLS:C0272286 semapv:UnspecifiedMatching MONDO:0002049 thrombocytopenia skos:exactMatch DOID:1588 thrombocytopenia semapv:UnspecifiedMatching MONDO:0002049 thrombocytopenia skos:exactMatch MEDGEN:52737 semapv:UnspecifiedMatching MONDO:0002049 thrombocytopenia skos:exactMatch NCIT:C3408 Thrombocytopenia semapv:UnspecifiedMatching MONDO:0002049 thrombocytopenia skos:exactMatch SCTID:302215000 semapv:UnspecifiedMatching MONDO:0002049 thrombocytopenia skos:exactMatch UMLS:C0040034 semapv:UnspecifiedMatching MONDO:0002049 thrombocytopenia skos:exactMatch icd11.foundation:683583694 Thrombocytopenia semapv:UnspecifiedMatching MONDO:0002049 thrombocytopenia skos:exactMatch mesh:D013921 semapv:UnspecifiedMatching MONDO:0002050 depressive disorder skos:exactMatch DOID:1596 depressive disorder semapv:UnspecifiedMatching MONDO:0002050 depressive disorder skos:exactMatch ICD10CM:F32 Depressive episode semapv:UnspecifiedMatching MONDO:0002050 depressive disorder skos:exactMatch MEDGEN:4229 semapv:UnspecifiedMatching MONDO:0002050 depressive disorder skos:exactMatch NCIT:C2982 Depression semapv:UnspecifiedMatching MONDO:0002050 depressive disorder skos:exactMatch SCTID:35489007 semapv:UnspecifiedMatching MONDO:0002050 depressive disorder skos:exactMatch UMLS:C0011581 semapv:UnspecifiedMatching MONDO:0002050 depressive disorder skos:exactMatch mesh:D003866 semapv:UnspecifiedMatching MONDO:0002051 integumentary system disorder skos:exactMatch DOID:16 integumentary system disease semapv:UnspecifiedMatching MONDO:0002051 integumentary system disorder skos:exactMatch EFO:0010285 semapv:UnspecifiedMatching MONDO:0002051 integumentary system disorder skos:exactMatch MEDGEN:712400 semapv:UnspecifiedMatching MONDO:0002051 integumentary system disorder skos:exactMatch SCTID:128598002 semapv:UnspecifiedMatching MONDO:0002051 integumentary system disorder skos:exactMatch UMLS:C1290011 semapv:UnspecifiedMatching MONDO:0002052 lymphadenitis skos:exactMatch DOID:1602 lymphadenitis semapv:UnspecifiedMatching MONDO:0002052 lymphadenitis skos:exactMatch MEDGEN:7410 semapv:UnspecifiedMatching MONDO:0002052 lymphadenitis skos:exactMatch NCIT:C26821 Lymphadenitis semapv:UnspecifiedMatching MONDO:0002052 lymphadenitis skos:exactMatch SCTID:41174002 semapv:UnspecifiedMatching MONDO:0002052 lymphadenitis skos:exactMatch UMLS:C0024205 semapv:UnspecifiedMatching MONDO:0002052 lymphadenitis skos:exactMatch icd11.foundation:1483611415 Lymphadenitis semapv:UnspecifiedMatching MONDO:0002052 lymphadenitis skos:exactMatch mesh:D008199 semapv:UnspecifiedMatching MONDO:0002053 obsolete hypoglycemic coma skos:exactMatch DOID:1607 hypoglycemic coma semapv:UnspecifiedMatching MONDO:0002053 obsolete hypoglycemic coma skos:exactMatch SCTID:267384006 semapv:UnspecifiedMatching MONDO:0002055 benign eccrine breast spiradenoma skos:exactMatch DOID:1616 benign eccrine breast spiradenoma semapv:UnspecifiedMatching MONDO:0002055 benign eccrine breast spiradenoma skos:exactMatch MEDGEN:231933 semapv:UnspecifiedMatching MONDO:0002055 benign eccrine breast spiradenoma skos:exactMatch NCIT:C5193 Breast Spiradenoma semapv:UnspecifiedMatching MONDO:0002055 benign eccrine breast spiradenoma skos:exactMatch UMLS:C1332492 semapv:UnspecifiedMatching MONDO:0002056 breast fibroadenoma skos:exactMatch DOID:1618 breast fibroadenoma semapv:UnspecifiedMatching MONDO:0002056 breast fibroadenoma skos:exactMatch MEDGEN:64231 semapv:UnspecifiedMatching MONDO:0002056 breast fibroadenoma skos:exactMatch NCIT:C3744 Breast Fibroadenoma semapv:UnspecifiedMatching MONDO:0002056 breast fibroadenoma skos:exactMatch SCTID:254847007 semapv:UnspecifiedMatching MONDO:0002056 breast fibroadenoma skos:exactMatch UMLS:C0178421 semapv:UnspecifiedMatching MONDO:0002056 breast fibroadenoma skos:exactMatch icd11.foundation:143326763 Fibroadenoma of breast semapv:UnspecifiedMatching MONDO:0002056 breast fibroadenoma skos:exactMatch mesh:D018226 semapv:UnspecifiedMatching MONDO:0002057 breast leiomyoma skos:exactMatch DOID:1623 breast leiomyoma semapv:UnspecifiedMatching MONDO:0002057 breast leiomyoma skos:exactMatch MEDGEN:267768 semapv:UnspecifiedMatching MONDO:0002057 breast leiomyoma skos:exactMatch NCIT:C40399 Breast Leiomyoma semapv:UnspecifiedMatching MONDO:0002057 breast leiomyoma skos:exactMatch UMLS:C1511317 semapv:UnspecifiedMatching MONDO:0002057 breast leiomyoma skos:exactMatch icd11.foundation:214325738 Leiomyoma of breast semapv:UnspecifiedMatching MONDO:0002058 breast adenoma skos:exactMatch DOID:1625 breast adenoma semapv:UnspecifiedMatching MONDO:0002058 breast adenoma skos:exactMatch MEDGEN:231286 semapv:UnspecifiedMatching MONDO:0002058 breast adenoma skos:exactMatch NCIT:C40382 Breast Adenoma semapv:UnspecifiedMatching MONDO:0002058 breast adenoma skos:exactMatch UMLS:C1328385 semapv:UnspecifiedMatching MONDO:0002060 intraductal papilloma skos:exactMatch DOID:1627 intraductal papilloma semapv:UnspecifiedMatching MONDO:0002060 intraductal papilloma skos:exactMatch MEDGEN:61667 semapv:UnspecifiedMatching MONDO:0002060 intraductal papilloma skos:exactMatch NCIT:C3785 Intraductal Papilloma semapv:UnspecifiedMatching MONDO:0002060 intraductal papilloma skos:exactMatch UMLS:C0206713 semapv:UnspecifiedMatching MONDO:0002060 intraductal papilloma skos:exactMatch icd11.foundation:288706574 semapv:UnspecifiedMatching MONDO:0002060 intraductal papilloma skos:exactMatch mesh:D018300 semapv:UnspecifiedMatching MONDO:0002061 intraductal papillary breast neoplasm skos:exactMatch DOID:1628 intraductal papillary breast neoplasm semapv:UnspecifiedMatching MONDO:0002061 intraductal papillary breast neoplasm skos:exactMatch MEDGEN:233572 semapv:UnspecifiedMatching MONDO:0002061 intraductal papillary breast neoplasm skos:exactMatch NCIT:C36090 Breast Intraductal Papillary Neoplasm semapv:UnspecifiedMatching MONDO:0002061 intraductal papillary breast neoplasm skos:exactMatch UMLS:C1334252 semapv:UnspecifiedMatching MONDO:0002062 breast myofibroblastoma skos:exactMatch DOID:1629 breast myofibroblastoma semapv:UnspecifiedMatching MONDO:0002062 breast myofibroblastoma skos:exactMatch MEDGEN:307311 semapv:UnspecifiedMatching MONDO:0002062 breast myofibroblastoma skos:exactMatch NCIT:C40397 Breast Myofibroblastoma semapv:UnspecifiedMatching MONDO:0002062 breast myofibroblastoma skos:exactMatch UMLS:C1511320 semapv:UnspecifiedMatching MONDO:0002063 obsolete breast papillomatosis skos:exactMatch DOID:1634 obsolete breast papillomatosis semapv:UnspecifiedMatching MONDO:0002063 obsolete breast papillomatosis skos:exactMatch NCIT:C6977 Breast Papillomatosis semapv:UnspecifiedMatching MONDO:0002064 breast angiomatosis skos:exactMatch DOID:1637 breast angiomatosis semapv:UnspecifiedMatching MONDO:0002064 breast angiomatosis skos:exactMatch MEDGEN:307304 semapv:UnspecifiedMatching MONDO:0002064 breast angiomatosis skos:exactMatch NCIT:C40381 Breast Angiomatosis semapv:UnspecifiedMatching MONDO:0002064 breast angiomatosis skos:exactMatch UMLS:C1511284 semapv:UnspecifiedMatching MONDO:0002065 benign breast adenomyoepithelioma skos:exactMatch DOID:1641 benign breast adenomyoepithelioma semapv:UnspecifiedMatching MONDO:0002065 benign breast adenomyoepithelioma skos:exactMatch MEDGEN:231421 semapv:UnspecifiedMatching MONDO:0002065 benign breast adenomyoepithelioma skos:exactMatch NCIT:C5144 Benign Breast Adenomyoepithelioma semapv:UnspecifiedMatching MONDO:0002065 benign breast adenomyoepithelioma skos:exactMatch UMLS:C1332477 semapv:UnspecifiedMatching MONDO:0002066 breast adenomyoepithelioma skos:exactMatch DOID:1642 breast adenomyoepithelioma semapv:UnspecifiedMatching MONDO:0002066 breast adenomyoepithelioma skos:exactMatch MEDGEN:267278 semapv:UnspecifiedMatching MONDO:0002066 breast adenomyoepithelioma skos:exactMatch NCIT:C6899 Breast Adenomyoepithelioma semapv:UnspecifiedMatching MONDO:0002066 breast adenomyoepithelioma skos:exactMatch UMLS:C1510795 semapv:UnspecifiedMatching MONDO:0002067 female breast upper-inner quadrant cancer skos:exactMatch DOID:1647 female breast upper-inner quadrant cancer semapv:UnspecifiedMatching MONDO:0002067 female breast upper-inner quadrant cancer skos:exactMatch ICD10CM:C50.2 Malignant neoplasm of upper-inner quadrant of breast semapv:UnspecifiedMatching MONDO:0002067 female breast upper-inner quadrant cancer skos:exactMatch MEDGEN:509324 semapv:UnspecifiedMatching MONDO:0002067 female breast upper-inner quadrant cancer skos:exactMatch SCTID:188152004 semapv:UnspecifiedMatching MONDO:0002067 female breast upper-inner quadrant cancer skos:exactMatch UMLS:C0153550 semapv:UnspecifiedMatching MONDO:0002068 female breast lower-inner quadrant cancer skos:exactMatch DOID:1649 female breast lower-inner quadrant cancer semapv:UnspecifiedMatching MONDO:0002068 female breast lower-inner quadrant cancer skos:exactMatch ICD10CM:C50.3 Malignant neoplasm of lower-inner quadrant of breast semapv:UnspecifiedMatching MONDO:0002068 female breast lower-inner quadrant cancer skos:exactMatch MEDGEN:509325 semapv:UnspecifiedMatching MONDO:0002068 female breast lower-inner quadrant cancer skos:exactMatch SCTID:188153009 semapv:UnspecifiedMatching MONDO:0002068 female breast lower-inner quadrant cancer skos:exactMatch UMLS:C0153551 semapv:UnspecifiedMatching MONDO:0002069 female breast axillary tail cancer skos:exactMatch DOID:1650 female breast axillary tail cancer semapv:UnspecifiedMatching MONDO:0002069 female breast axillary tail cancer skos:exactMatch ICD10CM:C50.6 Malignant neoplasm of axillary tail of breast semapv:UnspecifiedMatching MONDO:0002069 female breast axillary tail cancer skos:exactMatch MEDGEN:509328 semapv:UnspecifiedMatching MONDO:0002069 female breast axillary tail cancer skos:exactMatch SCTID:188156001 semapv:UnspecifiedMatching MONDO:0002069 female breast axillary tail cancer skos:exactMatch UMLS:C0153554 semapv:UnspecifiedMatching MONDO:0002070 ventricular septal defect skos:exactMatch DOID:1657 ventricular septal defect semapv:UnspecifiedMatching MONDO:0002070 ventricular septal defect skos:exactMatch ICD10CM:Q21.0 Ventricular septal defect semapv:UnspecifiedMatching MONDO:0002070 ventricular septal defect skos:exactMatch MEDGEN:42366 semapv:UnspecifiedMatching MONDO:0002070 ventricular septal defect skos:exactMatch NCIT:C84506 Ventricular Septal Defect semapv:UnspecifiedMatching MONDO:0002070 ventricular septal defect skos:exactMatch OMIMPS:614429 Ventricular septal defect semapv:UnspecifiedMatching MONDO:0002070 ventricular septal defect skos:exactMatch SCTID:30288003 semapv:UnspecifiedMatching MONDO:0002070 ventricular septal defect skos:exactMatch UMLS:C0018818 semapv:UnspecifiedMatching MONDO:0002070 ventricular septal defect skos:exactMatch icd11.foundation:668140715 Ventricular septal defect semapv:UnspecifiedMatching MONDO:0002070 ventricular septal defect skos:exactMatch mesh:D006345 semapv:UnspecifiedMatching MONDO:0002071 supratentorial cancer skos:exactMatch DOID:1659 supratentorial cancer semapv:UnspecifiedMatching MONDO:0002071 supratentorial cancer skos:exactMatch MEDGEN:155589 semapv:UnspecifiedMatching MONDO:0002071 supratentorial cancer skos:exactMatch NCIT:C4964 Malignant Supratentorial Neoplasm semapv:UnspecifiedMatching MONDO:0002071 supratentorial cancer skos:exactMatch UMLS:C0751589 semapv:UnspecifiedMatching MONDO:0002071 supratentorial cancer skos:exactMatch mesh:D015173 semapv:UnspecifiedMatching MONDO:0002072 melanotic neuroectodermal tumor skos:exactMatch DOID:166 melanotic neuroectodermal tumor semapv:UnspecifiedMatching MONDO:0002072 melanotic neuroectodermal tumor skos:exactMatch MEDGEN:60073 semapv:UnspecifiedMatching MONDO:0002072 melanotic neuroectodermal tumor skos:exactMatch NCIT:C3717 Melanotic Neuroectodermal Tumor semapv:UnspecifiedMatching MONDO:0002072 melanotic neuroectodermal tumor skos:exactMatch SCTID:404042005 semapv:UnspecifiedMatching MONDO:0002072 melanotic neuroectodermal tumor skos:exactMatch UMLS:C0206094 semapv:UnspecifiedMatching MONDO:0002072 melanotic neuroectodermal tumor skos:exactMatch mesh:D017600 semapv:UnspecifiedMatching MONDO:0002073 malignant pineal area germ cell neoplasm skos:exactMatch DOID:1660 malignant pineal area germ cell neoplasm semapv:UnspecifiedMatching MONDO:0002073 malignant pineal area germ cell neoplasm skos:exactMatch MEDGEN:233159 semapv:UnspecifiedMatching MONDO:0002073 malignant pineal area germ cell neoplasm skos:exactMatch NCIT:C6767 Malignant Pineal Region Germ Cell Tumor semapv:UnspecifiedMatching MONDO:0002073 malignant pineal area germ cell neoplasm skos:exactMatch SCTID:277508009 semapv:UnspecifiedMatching MONDO:0002073 malignant pineal area germ cell neoplasm skos:exactMatch UMLS:C1334612 semapv:UnspecifiedMatching MONDO:0002074 Behcet syndrome arthropathy skos:exactMatch DOID:1670 Behcet's syndrome arthropathy semapv:UnspecifiedMatching MONDO:0002074 Behcet syndrome arthropathy skos:exactMatch MEDGEN:102354 semapv:UnspecifiedMatching MONDO:0002074 Behcet syndrome arthropathy skos:exactMatch NCIT:C35225 Arthropathy in Behcet's Syndrome semapv:UnspecifiedMatching MONDO:0002074 Behcet syndrome arthropathy skos:exactMatch SCTID:62918002 semapv:UnspecifiedMatching MONDO:0002074 Behcet syndrome arthropathy skos:exactMatch UMLS:C0157770 semapv:UnspecifiedMatching MONDO:0002075 spontaneous tension pneumothorax skos:exactMatch DOID:1672 spontaneous tension pneumothorax semapv:UnspecifiedMatching MONDO:0002075 spontaneous tension pneumothorax skos:exactMatch ICD10CM:J93.0 Spontaneous tension pneumothorax semapv:UnspecifiedMatching MONDO:0002075 spontaneous tension pneumothorax skos:exactMatch MEDGEN:510132 semapv:UnspecifiedMatching MONDO:0002075 spontaneous tension pneumothorax skos:exactMatch SCTID:196102003 semapv:UnspecifiedMatching MONDO:0002075 spontaneous tension pneumothorax skos:exactMatch UMLS:C0155907 semapv:UnspecifiedMatching MONDO:0002075 spontaneous tension pneumothorax skos:exactMatch icd11.foundation:304972724 Spontaneous tension pneumothorax semapv:UnspecifiedMatching MONDO:0002076 pneumothorax skos:exactMatch DOID:1673 pneumothorax semapv:UnspecifiedMatching MONDO:0002076 pneumothorax skos:exactMatch ICD10WHO:J93 Pneumothorax semapv:UnspecifiedMatching MONDO:0002076 pneumothorax skos:exactMatch MEDGEN:19365 semapv:UnspecifiedMatching MONDO:0002076 pneumothorax skos:exactMatch NCIT:C38006 Pneumothorax semapv:UnspecifiedMatching MONDO:0002076 pneumothorax skos:exactMatch SCTID:36118008 semapv:UnspecifiedMatching MONDO:0002076 pneumothorax skos:exactMatch UMLS:C0032326 semapv:UnspecifiedMatching MONDO:0002076 pneumothorax skos:exactMatch icd11.foundation:1946559257 Pneumothorax semapv:UnspecifiedMatching MONDO:0002076 pneumothorax skos:exactMatch mesh:D011030 semapv:UnspecifiedMatching MONDO:0002077 low implantation of placenta skos:exactMatch DOID:1677 low implantation of placenta semapv:UnspecifiedMatching MONDO:0002077 low implantation of placenta skos:exactMatch MEDGEN:510322 semapv:UnspecifiedMatching MONDO:0002077 low implantation of placenta skos:exactMatch SCTID:7792000 semapv:UnspecifiedMatching MONDO:0002077 low implantation of placenta skos:exactMatch UMLS:C0156617 semapv:UnspecifiedMatching MONDO:0002078 heart septal defect skos:exactMatch DOID:1681 heart septal defect semapv:UnspecifiedMatching MONDO:0002078 heart septal defect skos:exactMatch MEDGEN:6752 semapv:UnspecifiedMatching MONDO:0002078 heart septal defect skos:exactMatch NCIT:C84482 Congenital Septal Defect semapv:UnspecifiedMatching MONDO:0002078 heart septal defect skos:exactMatch SCTID:253273004 semapv:UnspecifiedMatching MONDO:0002078 heart septal defect skos:exactMatch UMLS:C0018816 semapv:UnspecifiedMatching MONDO:0002078 heart septal defect skos:exactMatch mesh:D006343 semapv:UnspecifiedMatching MONDO:0002081 musculoskeletal system disorder skos:exactMatch DOID:17 musculoskeletal system disease semapv:UnspecifiedMatching MONDO:0002081 musculoskeletal system disorder skos:exactMatch EFO:0009676 semapv:UnspecifiedMatching MONDO:0002081 musculoskeletal system disorder skos:exactMatch MEDGEN:6471 semapv:UnspecifiedMatching MONDO:0002081 musculoskeletal system disorder skos:exactMatch NCIT:C107377 Musculoskeletal Disorder semapv:UnspecifiedMatching MONDO:0002081 musculoskeletal system disorder skos:exactMatch SCTID:928000 semapv:UnspecifiedMatching MONDO:0002081 musculoskeletal system disorder skos:exactMatch UMLS:C0026857 semapv:UnspecifiedMatching MONDO:0002081 musculoskeletal system disorder skos:exactMatch mesh:D009140 semapv:UnspecifiedMatching MONDO:0002082 endocrine gland neoplasm skos:exactMatch EFO:0003769 semapv:UnspecifiedMatching MONDO:0002082 endocrine gland neoplasm skos:exactMatch MEDGEN:4044 semapv:UnspecifiedMatching MONDO:0002082 endocrine gland neoplasm skos:exactMatch NCIT:C3010 Endocrine Neoplasm semapv:UnspecifiedMatching MONDO:0002082 endocrine gland neoplasm skos:exactMatch SCTID:387922007 semapv:UnspecifiedMatching MONDO:0002082 endocrine gland neoplasm skos:exactMatch UMLS:C0014132 semapv:UnspecifiedMatching MONDO:0002083 Richter transformation skos:exactMatch DOID:1703 Richter's syndrome semapv:UnspecifiedMatching MONDO:0002083 Richter transformation skos:exactMatch MEDGEN:91159 semapv:UnspecifiedMatching MONDO:0002083 Richter transformation skos:exactMatch NCIT:C35424 Richter Syndrome semapv:UnspecifiedMatching MONDO:0002083 Richter transformation skos:exactMatch SCTID:277550009 semapv:UnspecifiedMatching MONDO:0002083 Richter transformation skos:exactMatch UMLS:C0349631 semapv:UnspecifiedMatching MONDO:0002083 Richter transformation skos:exactMatch icd11.foundation:1736108343 Richter syndrome semapv:UnspecifiedMatching MONDO:0002085 benign shuddering attacks skos:exactMatch DOID:1713 benign shuddering attacks semapv:UnspecifiedMatching MONDO:0002085 benign shuddering attacks skos:exactMatch ICD10CM:G25.83 Benign shuddering attacks semapv:UnspecifiedMatching MONDO:0002085 benign shuddering attacks skos:exactMatch MEDGEN:580931 semapv:UnspecifiedMatching MONDO:0002085 benign shuddering attacks skos:exactMatch SCTID:446995005 semapv:UnspecifiedMatching MONDO:0002085 benign shuddering attacks skos:exactMatch UMLS:C0375200 semapv:UnspecifiedMatching MONDO:0002086 clear cell acanthoma skos:exactMatch DOID:172 clear cell acanthoma semapv:UnspecifiedMatching MONDO:0002086 clear cell acanthoma skos:exactMatch MEDGEN:83098 semapv:UnspecifiedMatching MONDO:0002086 clear cell acanthoma skos:exactMatch NCIT:C97041 Clear Cell Acanthoma semapv:UnspecifiedMatching MONDO:0002086 clear cell acanthoma skos:exactMatch SCTID:254670002 semapv:UnspecifiedMatching MONDO:0002086 clear cell acanthoma skos:exactMatch UMLS:C0333992 semapv:UnspecifiedMatching MONDO:0002086 clear cell acanthoma skos:exactMatch icd11.foundation:1582724858 Clear cell acanthoma semapv:UnspecifiedMatching MONDO:0002087 peritoneum cancer skos:exactMatch DOID:1725 peritoneum cancer semapv:UnspecifiedMatching MONDO:0002087 peritoneum cancer skos:exactMatch MEDGEN:102270 semapv:UnspecifiedMatching MONDO:0002087 peritoneum cancer skos:exactMatch NCIT:C3538 Malignant Peritoneal Neoplasm semapv:UnspecifiedMatching MONDO:0002087 peritoneum cancer skos:exactMatch SCTID:363492001 semapv:UnspecifiedMatching MONDO:0002087 peritoneum cancer skos:exactMatch UMLS:C0153467 semapv:UnspecifiedMatching MONDO:0002087 peritoneum cancer skos:exactMatch icd11.foundation:315445782 Malignant neoplasms of peritoneum semapv:UnspecifiedMatching MONDO:0002088 partial retinal vein occlusion skos:exactMatch DOID:1726 partial of retinal vein occlusion semapv:UnspecifiedMatching MONDO:0002088 partial retinal vein occlusion skos:exactMatch MEDGEN:78753 semapv:UnspecifiedMatching MONDO:0002088 partial retinal vein occlusion skos:exactMatch NCIT:C35341 Partial Retinal Vein Occlusion semapv:UnspecifiedMatching MONDO:0002088 partial retinal vein occlusion skos:exactMatch SCTID:65593009 semapv:UnspecifiedMatching MONDO:0002088 partial retinal vein occlusion skos:exactMatch UMLS:C0271080 semapv:UnspecifiedMatching MONDO:0002089 retinal vascular occlusion skos:exactMatch DOID:1729 retinal vascular occlusion semapv:UnspecifiedMatching MONDO:0002089 retinal vascular occlusion skos:exactMatch ICD10CM:H34 Retinal vascular occlusions semapv:UnspecifiedMatching MONDO:0002089 retinal vascular occlusion skos:exactMatch MEDGEN:19762 semapv:UnspecifiedMatching MONDO:0002089 retinal vascular occlusion skos:exactMatch NCIT:C34980 Retinal Vascular Occlusion semapv:UnspecifiedMatching MONDO:0002089 retinal vascular occlusion skos:exactMatch SCTID:73757007 semapv:UnspecifiedMatching MONDO:0002089 retinal vascular occlusion skos:exactMatch UMLS:C0035326 semapv:UnspecifiedMatching MONDO:0002090 eccrine sweat gland neoplasm skos:exactMatch DOID:173 eccrine sweat gland neoplasm semapv:UnspecifiedMatching MONDO:0002090 eccrine sweat gland neoplasm skos:exactMatch MEDGEN:234213 semapv:UnspecifiedMatching MONDO:0002090 eccrine sweat gland neoplasm skos:exactMatch NCIT:C6796 Eccrine Neoplasm semapv:UnspecifiedMatching MONDO:0002090 eccrine sweat gland neoplasm skos:exactMatch UMLS:C1333371 semapv:UnspecifiedMatching MONDO:0002092 small intestine leiomyoma skos:exactMatch DOID:1738 small intestine leiomyoma semapv:UnspecifiedMatching MONDO:0002092 small intestine leiomyoma skos:exactMatch MEDGEN:68660 semapv:UnspecifiedMatching MONDO:0002092 small intestine leiomyoma skos:exactMatch NCIT:C7725 Small Intestinal Leiomyoma semapv:UnspecifiedMatching MONDO:0002092 small intestine leiomyoma skos:exactMatch SCTID:424279009 semapv:UnspecifiedMatching MONDO:0002092 small intestine leiomyoma skos:exactMatch UMLS:C0238197 semapv:UnspecifiedMatching MONDO:0002092 small intestine leiomyoma skos:exactMatch icd11.foundation:400263642 Leiomyoma of small intestine semapv:UnspecifiedMatching MONDO:0002093 acanthoma skos:exactMatch DOID:174 acanthoma semapv:UnspecifiedMatching MONDO:0002093 acanthoma skos:exactMatch MEDGEN:208851 semapv:UnspecifiedMatching MONDO:0002093 acanthoma skos:exactMatch NCIT:C7419 Acanthoma semapv:UnspecifiedMatching MONDO:0002093 acanthoma skos:exactMatch UMLS:C0846967 semapv:UnspecifiedMatching MONDO:0002093 acanthoma skos:exactMatch mesh:D049309 semapv:UnspecifiedMatching MONDO:0002095 vascular cancer skos:exactMatch DOID:175 vascular cancer semapv:UnspecifiedMatching MONDO:0002095 vascular cancer skos:exactMatch MEDGEN:264315 semapv:UnspecifiedMatching MONDO:0002095 vascular cancer skos:exactMatch NCIT:C8538 Malignant Blood Vessel Neoplasm semapv:UnspecifiedMatching MONDO:0002095 vascular cancer skos:exactMatch Orphanet:673466 Malignant vascular tumor semapv:UnspecifiedMatching MONDO:0002095 vascular cancer skos:exactMatch UMLS:C1458139 semapv:UnspecifiedMatching MONDO:0002095 vascular cancer skos:exactMatch mesh:D009383 semapv:UnspecifiedMatching MONDO:0002096 malignant conjunctival melanoma skos:exactMatch DOID:1751 malignant conjunctival melanoma semapv:UnspecifiedMatching MONDO:0002096 malignant conjunctival melanoma skos:exactMatch EFO:1000204 semapv:UnspecifiedMatching MONDO:0002096 malignant conjunctival melanoma skos:exactMatch MEDGEN:138060 semapv:UnspecifiedMatching MONDO:0002096 malignant conjunctival melanoma skos:exactMatch NCIT:C4550 Conjunctival Melanoma semapv:UnspecifiedMatching MONDO:0002096 malignant conjunctival melanoma skos:exactMatch Orphanet:617910 Conjunctival malignant melanoma semapv:UnspecifiedMatching MONDO:0002096 malignant conjunctival melanoma skos:exactMatch SCTID:255004001 semapv:UnspecifiedMatching MONDO:0002096 malignant conjunctival melanoma skos:exactMatch UMLS:C0346360 semapv:UnspecifiedMatching MONDO:0002098 facial nerve disorder skos:exactMatch DOID:1756 facial nerve disease semapv:UnspecifiedMatching MONDO:0002098 facial nerve disorder skos:exactMatch EFO:1002051 semapv:UnspecifiedMatching MONDO:0002098 facial nerve disorder skos:exactMatch ICD10CM:G51 Facial nerve disorders semapv:UnspecifiedMatching MONDO:0002098 facial nerve disorder skos:exactMatch MEDGEN:41946 semapv:UnspecifiedMatching MONDO:0002098 facial nerve disorder skos:exactMatch NCIT:C27594 Facial Nerve Disorder semapv:UnspecifiedMatching MONDO:0002098 facial nerve disorder skos:exactMatch SCTID:422426003 semapv:UnspecifiedMatching MONDO:0002098 facial nerve disorder skos:exactMatch UMLS:C0015464 semapv:UnspecifiedMatching MONDO:0002098 facial nerve disorder skos:exactMatch mesh:D005155 semapv:UnspecifiedMatching MONDO:0002099 Histoplasma capsulatum infectious disease skos:exactMatch DOID:1759 American histoplasmosis semapv:UnspecifiedMatching MONDO:0002099 Histoplasma capsulatum infectious disease skos:exactMatch SCTID:76255006 semapv:UnspecifiedMatching MONDO:0002100 cardiovascular cancer skos:exactMatch DOID:176 cardiovascular cancer semapv:UnspecifiedMatching MONDO:0002100 cardiovascular cancer skos:exactMatch MEDGEN:858066 semapv:UnspecifiedMatching MONDO:0002100 cardiovascular cancer skos:exactMatch NCIT:C114940 Malignant Cardiovascular Neoplasm semapv:UnspecifiedMatching MONDO:0002100 cardiovascular cancer skos:exactMatch UMLS:C3898472 semapv:UnspecifiedMatching MONDO:0002101 facial nerve neoplasm skos:exactMatch DOID:1760 facial nerve neoplasm semapv:UnspecifiedMatching MONDO:0002101 facial nerve neoplasm skos:exactMatch MEDGEN:224733 semapv:UnspecifiedMatching MONDO:0002101 facial nerve neoplasm skos:exactMatch NCIT:C5827 Facial Nerve Neoplasm semapv:UnspecifiedMatching MONDO:0002101 facial nerve neoplasm skos:exactMatch SCTID:126973004 semapv:UnspecifiedMatching MONDO:0002101 facial nerve neoplasm skos:exactMatch UMLS:C1263899 semapv:UnspecifiedMatching MONDO:0002102 cheilitis skos:exactMatch DOID:1762 cheilitis semapv:UnspecifiedMatching MONDO:0002102 cheilitis skos:exactMatch MEDGEN:3349 semapv:UnspecifiedMatching MONDO:0002102 cheilitis skos:exactMatch NCIT:C79545 Cheilitis semapv:UnspecifiedMatching MONDO:0002102 cheilitis skos:exactMatch SCTID:7847004 semapv:UnspecifiedMatching MONDO:0002102 cheilitis skos:exactMatch UMLS:C0007971 semapv:UnspecifiedMatching MONDO:0002102 cheilitis skos:exactMatch icd11.foundation:482914030 Cheilitis semapv:UnspecifiedMatching MONDO:0002102 cheilitis skos:exactMatch mesh:D002613 semapv:UnspecifiedMatching MONDO:0002103 factitious disorder skos:exactMatch DOID:1766 factitious disorder semapv:UnspecifiedMatching MONDO:0002103 factitious disorder skos:exactMatch MEDGEN:4632 semapv:UnspecifiedMatching MONDO:0002103 factitious disorder skos:exactMatch NCIT:C92198 Factitious Disorder semapv:UnspecifiedMatching MONDO:0002103 factitious disorder skos:exactMatch SCTID:50705009 semapv:UnspecifiedMatching MONDO:0002103 factitious disorder skos:exactMatch UMLS:C0015480 semapv:UnspecifiedMatching MONDO:0002103 factitious disorder skos:exactMatch mesh:D009110 semapv:UnspecifiedMatching MONDO:0002104 conversion disorder skos:exactMatch DOID:1768 conversion disorder semapv:UnspecifiedMatching MONDO:0002104 conversion disorder skos:exactMatch MEDGEN:3230 semapv:UnspecifiedMatching MONDO:0002104 conversion disorder skos:exactMatch UMLS:C0009946 semapv:UnspecifiedMatching MONDO:0002104 conversion disorder skos:exactMatch mesh:D003291 semapv:UnspecifiedMatching MONDO:0002105 toxic megacolon skos:exactMatch DOID:1770 toxic megacolon semapv:UnspecifiedMatching MONDO:0002105 toxic megacolon skos:exactMatch ICD10CM:K59.31 Toxic megacolon semapv:UnspecifiedMatching MONDO:0002105 toxic megacolon skos:exactMatch MEDGEN:9940 semapv:UnspecifiedMatching MONDO:0002105 toxic megacolon skos:exactMatch SCTID:28536002 semapv:UnspecifiedMatching MONDO:0002105 toxic megacolon skos:exactMatch UMLS:C0025162 semapv:UnspecifiedMatching MONDO:0002105 toxic megacolon skos:exactMatch icd11.foundation:1497870078 Toxic megacolon semapv:UnspecifiedMatching MONDO:0002105 toxic megacolon skos:exactMatch mesh:D008532 semapv:UnspecifiedMatching MONDO:0002106 labyrinthine unilateral reactive loss skos:exactMatch DOID:1776 labyrinthine unilateral reactive loss semapv:UnspecifiedMatching MONDO:0002106 labyrinthine unilateral reactive loss skos:exactMatch MEDGEN:510005 semapv:UnspecifiedMatching MONDO:0002106 labyrinthine unilateral reactive loss skos:exactMatch UMLS:C0155519 semapv:UnspecifiedMatching MONDO:0002107 unilateral hyperactive labyrinth skos:exactMatch DOID:1777 unilateral hyperactive labyrinth semapv:UnspecifiedMatching MONDO:0002107 unilateral hyperactive labyrinth skos:exactMatch MEDGEN:510001 semapv:UnspecifiedMatching MONDO:0002107 unilateral hyperactive labyrinth skos:exactMatch UMLS:C0155515 semapv:UnspecifiedMatching MONDO:0002108 thyroid cancer skos:exactMatch DOID:1781 thyroid cancer semapv:UnspecifiedMatching MONDO:0002108 thyroid cancer skos:exactMatch ICD10CM:C73 Malignant neoplasm of thyroid gland semapv:UnspecifiedMatching MONDO:0002108 thyroid cancer skos:exactMatch MEDGEN:2869 semapv:UnspecifiedMatching MONDO:0002108 thyroid cancer skos:exactMatch NCIT:C7510 Malignant Thyroid Gland Neoplasm semapv:UnspecifiedMatching MONDO:0002108 thyroid cancer skos:exactMatch SCTID:363478007 semapv:UnspecifiedMatching MONDO:0002108 thyroid cancer skos:exactMatch UMLS:C0007115 semapv:UnspecifiedMatching MONDO:0002108 thyroid cancer skos:exactMatch icd11.foundation:447433352 Malignant neoplasms of thyroid gland semapv:UnspecifiedMatching MONDO:0002109 pituitary cancer skos:exactMatch DOID:1785 pituitary cancer semapv:UnspecifiedMatching MONDO:0002109 pituitary cancer skos:exactMatch EFO:0005578 semapv:UnspecifiedMatching MONDO:0002109 pituitary cancer skos:exactMatch ICD10CM:C75.1 Malignant neoplasm of pituitary gland semapv:UnspecifiedMatching MONDO:0002109 pituitary cancer skos:exactMatch MEDGEN:96922 semapv:UnspecifiedMatching MONDO:0002109 pituitary cancer skos:exactMatch NCIT:C4769 Malignant Pituitary Gland Neoplasm semapv:UnspecifiedMatching MONDO:0002109 pituitary cancer skos:exactMatch SCTID:363482009 semapv:UnspecifiedMatching MONDO:0002109 pituitary cancer skos:exactMatch UMLS:C0496842 semapv:UnspecifiedMatching MONDO:0002109 pituitary cancer skos:exactMatch icd11.foundation:1130461249 Malignant neoplasm of pituitary gland semapv:UnspecifiedMatching MONDO:0002110 adrenal rest tumor skos:exactMatch DOID:1786 adrenal rest tumor semapv:UnspecifiedMatching MONDO:0002110 adrenal rest tumor skos:exactMatch MEDGEN:7902 semapv:UnspecifiedMatching MONDO:0002110 adrenal rest tumor skos:exactMatch NCIT:C2860 Adrenal Rest Tumor semapv:UnspecifiedMatching MONDO:0002110 adrenal rest tumor skos:exactMatch UMLS:C0001630 semapv:UnspecifiedMatching MONDO:0002110 adrenal rest tumor skos:exactMatch mesh:D000314 semapv:UnspecifiedMatching MONDO:0002112 benign peritoneal mesothelioma skos:exactMatch DOID:1789 benign peritoneal mesothelioma semapv:UnspecifiedMatching MONDO:0002112 benign peritoneal mesothelioma skos:exactMatch MEDGEN:87540 semapv:UnspecifiedMatching MONDO:0002112 benign peritoneal mesothelioma skos:exactMatch NCIT:C7354 Peritoneal Adenomatoid Tumor semapv:UnspecifiedMatching MONDO:0002112 benign peritoneal mesothelioma skos:exactMatch UMLS:C0346113 semapv:UnspecifiedMatching MONDO:0002113 peritoneal carcinoma skos:exactMatch DOID:1791 peritoneal carcinoma semapv:UnspecifiedMatching MONDO:0002113 peritoneal carcinoma skos:exactMatch MEDGEN:756216 semapv:UnspecifiedMatching MONDO:0002113 peritoneal carcinoma skos:exactMatch SCTID:447781009 semapv:UnspecifiedMatching MONDO:0002113 peritoneal carcinoma skos:exactMatch UMLS:C3163804 semapv:UnspecifiedMatching MONDO:0002114 pancreas lymphoma skos:exactMatch DOID:1792 pancreas lymphoma semapv:UnspecifiedMatching MONDO:0002114 pancreas lymphoma skos:exactMatch MEDGEN:233304 semapv:UnspecifiedMatching MONDO:0002114 pancreas lymphoma skos:exactMatch NCIT:C5714 Pancreatic Lymphoma semapv:UnspecifiedMatching MONDO:0002114 pancreas lymphoma skos:exactMatch UMLS:C1335307 semapv:UnspecifiedMatching MONDO:0002116 malignant exocrine pancreas neoplasm skos:exactMatch DOID:1795 malignant exocrine pancreas neoplasm semapv:UnspecifiedMatching MONDO:0002116 malignant exocrine pancreas neoplasm skos:exactMatch MEDGEN:91108 semapv:UnspecifiedMatching MONDO:0002116 malignant exocrine pancreas neoplasm skos:exactMatch NCIT:C7430 Malignant Exocrine Pancreas Neoplasm semapv:UnspecifiedMatching MONDO:0002116 malignant exocrine pancreas neoplasm skos:exactMatch SCTID:255088001 semapv:UnspecifiedMatching MONDO:0002116 malignant exocrine pancreas neoplasm skos:exactMatch UMLS:C0346648 semapv:UnspecifiedMatching MONDO:0002117 pancreas sarcoma skos:exactMatch DOID:1796 pancreas sarcoma semapv:UnspecifiedMatching MONDO:0002117 pancreas sarcoma skos:exactMatch MEDGEN:202112 semapv:UnspecifiedMatching MONDO:0002117 pancreas sarcoma skos:exactMatch NCIT:C5715 Pancreatic Sarcoma semapv:UnspecifiedMatching MONDO:0002117 pancreas sarcoma skos:exactMatch UMLS:C1096346 semapv:UnspecifiedMatching MONDO:0002118 urinary system disorder skos:exactMatch DOID:18 urinary system disease semapv:UnspecifiedMatching MONDO:0002118 urinary system disorder skos:exactMatch EFO:0009690 semapv:UnspecifiedMatching MONDO:0002118 urinary system disorder skos:exactMatch MEDGEN:21791 semapv:UnspecifiedMatching MONDO:0002118 urinary system disorder skos:exactMatch NCIT:C3430 Urinary System Disorder semapv:UnspecifiedMatching MONDO:0002118 urinary system disorder skos:exactMatch SCTID:128606002 semapv:UnspecifiedMatching MONDO:0002118 urinary system disorder skos:exactMatch UMLS:C0042075 semapv:UnspecifiedMatching MONDO:0002118 urinary system disorder skos:exactMatch mesh:D014570 semapv:UnspecifiedMatching MONDO:0002119 ossifying fibroma skos:exactMatch DOID:180 ossifying fibroma semapv:UnspecifiedMatching MONDO:0002119 ossifying fibroma skos:exactMatch MEDGEN:104906 semapv:UnspecifiedMatching MONDO:0002119 ossifying fibroma skos:exactMatch NCIT:C173820 Ossifying Fibroma semapv:UnspecifiedMatching MONDO:0002119 ossifying fibroma skos:exactMatch NCIT:C8422 Cemento-Ossifying Fibroma semapv:UnspecifiedMatching MONDO:0002119 ossifying fibroma skos:exactMatch UMLS:C0206640 semapv:UnspecifiedMatching MONDO:0002119 ossifying fibroma skos:exactMatch mesh:D018214 semapv:UnspecifiedMatching MONDO:0002120 neuroendocrine carcinoma skos:exactMatch DOID:1800 neuroendocrine carcinoma semapv:UnspecifiedMatching MONDO:0002120 neuroendocrine carcinoma skos:exactMatch MEDGEN:104919 semapv:UnspecifiedMatching MONDO:0002120 neuroendocrine carcinoma skos:exactMatch NCIT:C3773 Neuroendocrine Carcinoma semapv:UnspecifiedMatching MONDO:0002120 neuroendocrine carcinoma skos:exactMatch SCTID:253000007 semapv:UnspecifiedMatching MONDO:0002120 neuroendocrine carcinoma skos:exactMatch UMLS:C0206695 semapv:UnspecifiedMatching MONDO:0002120 neuroendocrine carcinoma skos:exactMatch mesh:D018278 semapv:UnspecifiedMatching MONDO:0002121 mononeuritis simplex skos:exactMatch DOID:1802 mononeuritis semapv:UnspecifiedMatching MONDO:0002121 mononeuritis simplex skos:exactMatch MEDGEN:65914 semapv:UnspecifiedMatching MONDO:0002121 mononeuritis simplex skos:exactMatch SCTID:32595002 semapv:UnspecifiedMatching MONDO:0002121 mononeuritis simplex skos:exactMatch UMLS:C0235880 semapv:UnspecifiedMatching MONDO:0002122 neuritis skos:exactMatch DOID:1803 neuritis semapv:UnspecifiedMatching MONDO:0002122 neuritis skos:exactMatch MEDGEN:14344 semapv:UnspecifiedMatching MONDO:0002122 neuritis skos:exactMatch NCIT:C116381 Neuritis semapv:UnspecifiedMatching MONDO:0002122 neuritis skos:exactMatch SCTID:128192007 semapv:UnspecifiedMatching MONDO:0002122 neuritis skos:exactMatch UMLS:C0027813 semapv:UnspecifiedMatching MONDO:0002122 neuritis skos:exactMatch mesh:D009443 semapv:UnspecifiedMatching MONDO:0002123 calcinosis skos:exactMatch DOID:182 calcinosis semapv:UnspecifiedMatching MONDO:0002123 calcinosis skos:exactMatch MEDGEN:709 semapv:UnspecifiedMatching MONDO:0002123 calcinosis skos:exactMatch NCIT:C3672 Calcification semapv:UnspecifiedMatching MONDO:0002123 calcinosis skos:exactMatch SCTID:6595006 semapv:UnspecifiedMatching MONDO:0002123 calcinosis skos:exactMatch UMLS:C0006663 semapv:UnspecifiedMatching MONDO:0002123 calcinosis skos:exactMatch icd11.foundation:1374802956 Calcinosis semapv:UnspecifiedMatching MONDO:0002123 calcinosis skos:exactMatch mesh:D002114 semapv:UnspecifiedMatching MONDO:0002124 secondary lacrimal atrophy skos:exactMatch DOID:1822 secondary lacrimal atrophy semapv:UnspecifiedMatching MONDO:0002124 secondary lacrimal atrophy skos:exactMatch MEDGEN:572969 semapv:UnspecifiedMatching MONDO:0002124 secondary lacrimal atrophy skos:exactMatch SCTID:75068001 semapv:UnspecifiedMatching MONDO:0002124 secondary lacrimal atrophy skos:exactMatch UMLS:C0339121 semapv:UnspecifiedMatching MONDO:0002125 obsolete status epilepticus skos:exactMatch DOID:1824 status epilepticus semapv:UnspecifiedMatching MONDO:0002125 obsolete status epilepticus skos:exactMatch EFO:0008526 semapv:UnspecifiedMatching MONDO:0002125 obsolete status epilepticus skos:exactMatch NCIT:C85079 Status Epilepticus semapv:UnspecifiedMatching MONDO:0002125 obsolete status epilepticus skos:exactMatch SCTID:230456007 semapv:UnspecifiedMatching MONDO:0002125 obsolete status epilepticus skos:exactMatch icd11.foundation:906174792 Status epilepticus semapv:UnspecifiedMatching MONDO:0002125 obsolete status epilepticus skos:exactMatch mesh:D013226 semapv:UnspecifiedMatching MONDO:0002127 urethral stricture skos:exactMatch DOID:1829 urethral stricture semapv:UnspecifiedMatching MONDO:0002127 urethral stricture skos:exactMatch ICD10CM:N35 Urethral stricture semapv:UnspecifiedMatching MONDO:0002127 urethral stricture skos:exactMatch ICD10WHO:N35 Urethral stricture semapv:UnspecifiedMatching MONDO:0002127 urethral stricture skos:exactMatch MEDGEN:1641821 semapv:UnspecifiedMatching MONDO:0002127 urethral stricture skos:exactMatch NCIT:C79821 Urethral Stricture semapv:UnspecifiedMatching MONDO:0002127 urethral stricture skos:exactMatch SCTID:76618002 semapv:UnspecifiedMatching MONDO:0002127 urethral stricture skos:exactMatch UMLS:C4551691 semapv:UnspecifiedMatching MONDO:0002127 urethral stricture skos:exactMatch icd11.foundation:611219038 Urethral stricture semapv:UnspecifiedMatching MONDO:0002127 urethral stricture skos:exactMatch mesh:D014525 semapv:UnspecifiedMatching MONDO:0002128 mononeuritis multiplex skos:exactMatch DOID:1835 mononeuritis multiplex semapv:UnspecifiedMatching MONDO:0002128 mononeuritis multiplex skos:exactMatch ICD10CM:G58.7 Mononeuritis multiplex semapv:UnspecifiedMatching MONDO:0002128 mononeuritis multiplex skos:exactMatch MEDGEN:101790 semapv:UnspecifiedMatching MONDO:0002128 mononeuritis multiplex skos:exactMatch NCIT:C70938 Mononeuritis Multiplex semapv:UnspecifiedMatching MONDO:0002128 mononeuritis multiplex skos:exactMatch SCTID:30292005 semapv:UnspecifiedMatching MONDO:0002128 mononeuritis multiplex skos:exactMatch UMLS:C0151295 semapv:UnspecifiedMatching MONDO:0002128 mononeuritis multiplex skos:exactMatch icd11.foundation:1838368265 Mononeuritis multiplex semapv:UnspecifiedMatching MONDO:0002129 bone cancer skos:exactMatch DOID:184 bone cancer semapv:UnspecifiedMatching MONDO:0002129 bone cancer skos:exactMatch EFO:1000350 semapv:UnspecifiedMatching MONDO:0002129 bone cancer skos:exactMatch MEDGEN:79002 semapv:UnspecifiedMatching MONDO:0002129 bone cancer skos:exactMatch NCIT:C4016 Malignant Bone Neoplasm semapv:UnspecifiedMatching MONDO:0002129 bone cancer skos:exactMatch SCTID:428281000 semapv:UnspecifiedMatching MONDO:0002129 bone cancer skos:exactMatch UMLS:C0279530 semapv:UnspecifiedMatching MONDO:0002129 bone cancer skos:exactMatch mesh:D001859 semapv:UnspecifiedMatching MONDO:0002130 upper limb mononeuronitis skos:exactMatch DOID:1844 mononeuritis of upper limb semapv:UnspecifiedMatching MONDO:0002131 jaw cancer skos:exactMatch DOID:1862 jaw cancer semapv:UnspecifiedMatching MONDO:0002131 jaw cancer skos:exactMatch MEDGEN:155838 semapv:UnspecifiedMatching MONDO:0002131 jaw cancer skos:exactMatch UMLS:C0751255 semapv:UnspecifiedMatching MONDO:0002131 jaw cancer skos:exactMatch icd11.foundation:1535116870 Primary malignant neoplasm of jaw semapv:UnspecifiedMatching MONDO:0002131 jaw cancer skos:exactMatch mesh:D007573 semapv:UnspecifiedMatching MONDO:0002132 skull cancer skos:exactMatch DOID:1863 skull cancer semapv:UnspecifiedMatching MONDO:0002132 skull cancer skos:exactMatch MEDGEN:1662558 semapv:UnspecifiedMatching MONDO:0002132 skull cancer skos:exactMatch NCIT:C155790 Malignant Skull Neoplasm semapv:UnspecifiedMatching MONDO:0002132 skull cancer skos:exactMatch UMLS:C2062986 semapv:UnspecifiedMatching MONDO:0002133 chronic rheumatic pericarditis skos:exactMatch DOID:1869 chronic rheumatic pericarditis semapv:UnspecifiedMatching MONDO:0002133 chronic rheumatic pericarditis skos:exactMatch ICD10CM:I09.2 Chronic rheumatic pericarditis semapv:UnspecifiedMatching MONDO:0002133 chronic rheumatic pericarditis skos:exactMatch MEDGEN:510021 semapv:UnspecifiedMatching MONDO:0002133 chronic rheumatic pericarditis skos:exactMatch SCTID:78069008 semapv:UnspecifiedMatching MONDO:0002133 chronic rheumatic pericarditis skos:exactMatch UMLS:C0155561 semapv:UnspecifiedMatching MONDO:0002133 chronic rheumatic pericarditis skos:exactMatch icd11.foundation:1473004877 Chronic rheumatic pericarditis semapv:UnspecifiedMatching MONDO:0002134 physiological sexual disorder skos:exactMatch DOID:1876 sexual dysfunction semapv:UnspecifiedMatching MONDO:0002134 physiological sexual disorder skos:exactMatch MEDGEN:66756 semapv:UnspecifiedMatching MONDO:0002134 physiological sexual disorder skos:exactMatch UMLS:C0237873 semapv:UnspecifiedMatching MONDO:0002134 physiological sexual disorder skos:exactMatch mesh:D012735 semapv:UnspecifiedMatching MONDO:0002135 optic nerve disorder skos:exactMatch DOID:1891 optic nerve disease semapv:UnspecifiedMatching MONDO:0002135 optic nerve disorder skos:exactMatch MEDGEN:854546 semapv:UnspecifiedMatching MONDO:0002135 optic nerve disorder skos:exactMatch NCIT:C79698 Optic Nerve Disorder semapv:UnspecifiedMatching MONDO:0002135 optic nerve disorder skos:exactMatch SCTID:77157004 semapv:UnspecifiedMatching MONDO:0002135 optic nerve disorder skos:exactMatch UMLS:C3887709 semapv:UnspecifiedMatching MONDO:0002135 optic nerve disorder skos:exactMatch mesh:D009901 semapv:UnspecifiedMatching MONDO:0002136 eczematous dermatitis of eyelid skos:exactMatch DOID:1893 eczematous dermatitis of eyelid semapv:UnspecifiedMatching MONDO:0002136 eczematous dermatitis of eyelid skos:exactMatch ICD10CM:H01.13 Eczematous dermatitis of eyelid semapv:UnspecifiedMatching MONDO:0002136 eczematous dermatitis of eyelid skos:exactMatch MEDGEN:509832 semapv:UnspecifiedMatching MONDO:0002136 eczematous dermatitis of eyelid skos:exactMatch SCTID:36259009 semapv:UnspecifiedMatching MONDO:0002136 eczematous dermatitis of eyelid skos:exactMatch UMLS:C0155177 semapv:UnspecifiedMatching MONDO:0002137 noninfectious dermatoses of eyelid skos:exactMatch DOID:1894 noninfectious dermatoses of eyelid semapv:UnspecifiedMatching MONDO:0002137 noninfectious dermatoses of eyelid skos:exactMatch ICD10CM:H01.1 Noninfectious dermatoses of eyelid semapv:UnspecifiedMatching MONDO:0002137 noninfectious dermatoses of eyelid skos:exactMatch MEDGEN:509831 semapv:UnspecifiedMatching MONDO:0002137 noninfectious dermatoses of eyelid skos:exactMatch SCTID:111524003 semapv:UnspecifiedMatching MONDO:0002137 noninfectious dermatoses of eyelid skos:exactMatch UMLS:C0155176 semapv:UnspecifiedMatching MONDO:0002137 noninfectious dermatoses of eyelid skos:exactMatch icd11.foundation:849793428 Noninfectious dermatoses of eyelid semapv:UnspecifiedMatching MONDO:0002138 allergic contact dermatitis of eyelid skos:exactMatch DOID:1895 allergic contact dermatitis of eyelid semapv:UnspecifiedMatching MONDO:0002138 allergic contact dermatitis of eyelid skos:exactMatch MEDGEN:509833 semapv:UnspecifiedMatching MONDO:0002138 allergic contact dermatitis of eyelid skos:exactMatch SCTID:402249007 semapv:UnspecifiedMatching MONDO:0002138 allergic contact dermatitis of eyelid skos:exactMatch UMLS:C0155178 semapv:UnspecifiedMatching MONDO:0002139 sigmoid disease skos:exactMatch DOID:1897 sigmoid disease semapv:UnspecifiedMatching MONDO:0002139 sigmoid disease skos:exactMatch MEDGEN:20752 semapv:UnspecifiedMatching MONDO:0002139 sigmoid disease skos:exactMatch UMLS:C0037072 semapv:UnspecifiedMatching MONDO:0002139 sigmoid disease skos:exactMatch mesh:D012810 semapv:UnspecifiedMatching MONDO:0002140 vagina sarcoma skos:exactMatch DOID:1901 vagina sarcoma semapv:UnspecifiedMatching MONDO:0002140 vagina sarcoma skos:exactMatch MEDGEN:65971 semapv:UnspecifiedMatching MONDO:0002140 vagina sarcoma skos:exactMatch NCIT:C7737 Vaginal Sarcoma semapv:UnspecifiedMatching MONDO:0002140 vagina sarcoma skos:exactMatch UMLS:C0238519 semapv:UnspecifiedMatching MONDO:0002141 cutaneous undifferentiated pleomorphic sarcoma skos:exactMatch DOID:1906 malignant skin fibrous histiocytoma semapv:UnspecifiedMatching MONDO:0002141 cutaneous undifferentiated pleomorphic sarcoma skos:exactMatch MEDGEN:224813 semapv:UnspecifiedMatching MONDO:0002141 cutaneous undifferentiated pleomorphic sarcoma skos:exactMatch NCIT:C5576 Pleomorphic Dermal Sarcoma semapv:UnspecifiedMatching MONDO:0002141 cutaneous undifferentiated pleomorphic sarcoma skos:exactMatch SCTID:404014008 semapv:UnspecifiedMatching MONDO:0002141 cutaneous undifferentiated pleomorphic sarcoma skos:exactMatch UMLS:C1275254 semapv:UnspecifiedMatching MONDO:0002141 cutaneous undifferentiated pleomorphic sarcoma skos:exactMatch icd11.foundation:361875781 Undifferentiated pleomorphic sarcoma of skin semapv:UnspecifiedMatching MONDO:0002142 undifferentiated pleomorphic sarcoma skos:exactMatch DOID:1907 malignant fibrous histiocytoma semapv:UnspecifiedMatching MONDO:0002142 undifferentiated pleomorphic sarcoma skos:exactMatch EFO:1001972 semapv:UnspecifiedMatching MONDO:0002142 undifferentiated pleomorphic sarcoma skos:exactMatch MEDGEN:87248 semapv:UnspecifiedMatching MONDO:0002142 undifferentiated pleomorphic sarcoma skos:exactMatch NCIT:C114541 Adult Undifferentiated Pleomorphic Sarcoma semapv:UnspecifiedMatching MONDO:0002142 undifferentiated pleomorphic sarcoma skos:exactMatch NCIT:C4247 Undifferentiated Pleomorphic Sarcoma semapv:UnspecifiedMatching MONDO:0002142 undifferentiated pleomorphic sarcoma skos:exactMatch Orphanet:2023 Undifferentiated pleomorphic sarcoma semapv:UnspecifiedMatching MONDO:0002142 undifferentiated pleomorphic sarcoma skos:exactMatch SCTID:443439001 semapv:UnspecifiedMatching MONDO:0002142 undifferentiated pleomorphic sarcoma skos:exactMatch UMLS:C0334463 semapv:UnspecifiedMatching MONDO:0002142 undifferentiated pleomorphic sarcoma skos:exactMatch mesh:D051677 semapv:UnspecifiedMatching MONDO:0002143 vaginal yolk sac tumor skos:exactMatch DOID:1910 vaginal yolk sac tumor semapv:UnspecifiedMatching MONDO:0002143 vaginal yolk sac tumor skos:exactMatch MEDGEN:234985 semapv:UnspecifiedMatching MONDO:0002143 vaginal yolk sac tumor skos:exactMatch NCIT:C6379 Vaginal Yolk Sac Tumor semapv:UnspecifiedMatching MONDO:0002143 vaginal yolk sac tumor skos:exactMatch UMLS:C1336945 semapv:UnspecifiedMatching MONDO:0002144 obsolete hyperuricemia skos:exactMatch DOID:1920 hyperuricemia semapv:UnspecifiedMatching MONDO:0002144 obsolete hyperuricemia skos:exactMatch SCTID:35885006 semapv:UnspecifiedMatching MONDO:0002144 obsolete hyperuricemia skos:exactMatch mesh:D033461 semapv:UnspecifiedMatching MONDO:0002145 disorder of sexual differentiation skos:exactMatch DOID:1923 disorder of sexual development semapv:UnspecifiedMatching MONDO:0002145 disorder of sexual differentiation skos:exactMatch MEDGEN:415936 semapv:UnspecifiedMatching MONDO:0002145 disorder of sexual differentiation skos:exactMatch NCIT:C103186 Sexual Differentiation Disorder semapv:UnspecifiedMatching MONDO:0002145 disorder of sexual differentiation skos:exactMatch Orphanet:90771 Difference of sex development semapv:UnspecifiedMatching MONDO:0002145 disorder of sexual differentiation skos:exactMatch SCTID:39179006 semapv:UnspecifiedMatching MONDO:0002145 disorder of sexual differentiation skos:exactMatch UMLS:C2930619 semapv:UnspecifiedMatching MONDO:0002145 disorder of sexual differentiation skos:exactMatch mesh:D012734 semapv:UnspecifiedMatching MONDO:0002146 hypogonadism skos:exactMatch DOID:1924 hypogonadism semapv:UnspecifiedMatching MONDO:0002146 hypogonadism skos:exactMatch MEDGEN:5711 semapv:UnspecifiedMatching MONDO:0002146 hypogonadism skos:exactMatch NCIT:C9227 Hypogonadism semapv:UnspecifiedMatching MONDO:0002146 hypogonadism skos:exactMatch SCTID:48130008 semapv:UnspecifiedMatching MONDO:0002146 hypogonadism skos:exactMatch UMLS:C0020619 semapv:UnspecifiedMatching MONDO:0002146 hypogonadism skos:exactMatch mesh:D007006 semapv:UnspecifiedMatching MONDO:0002149 reproductive system cancer skos:exactMatch DOID:193 reproductive organ cancer semapv:UnspecifiedMatching MONDO:0002149 reproductive system cancer skos:exactMatch MEDGEN:233668 semapv:UnspecifiedMatching MONDO:0002149 reproductive system cancer skos:exactMatch NCIT:C36076 Malignant Reproductive System Neoplasm semapv:UnspecifiedMatching MONDO:0002149 reproductive system cancer skos:exactMatch UMLS:C1334618 semapv:UnspecifiedMatching MONDO:0002150 hypothalamic disorder skos:exactMatch DOID:1931 hypothalamic disease semapv:UnspecifiedMatching MONDO:0002150 hypothalamic disorder skos:exactMatch MEDGEN:6988 semapv:UnspecifiedMatching MONDO:0002150 hypothalamic disorder skos:exactMatch SCTID:399100005 semapv:UnspecifiedMatching MONDO:0002150 hypothalamic disorder skos:exactMatch UMLS:C0020655 semapv:UnspecifiedMatching MONDO:0002150 hypothalamic disorder skos:exactMatch mesh:D007027 semapv:UnspecifiedMatching MONDO:0002152 intermittent squint skos:exactMatch DOID:1942 intermittent squint semapv:UnspecifiedMatching MONDO:0002152 intermittent squint skos:exactMatch ICD10CM:H50.3 Intermittent heterotropia semapv:UnspecifiedMatching MONDO:0002152 intermittent squint skos:exactMatch MEDGEN:508928 semapv:UnspecifiedMatching MONDO:0002152 intermittent squint skos:exactMatch SCTID:74025007 semapv:UnspecifiedMatching MONDO:0002152 intermittent squint skos:exactMatch UMLS:C0152210 semapv:UnspecifiedMatching MONDO:0002153 telogen effluvium skos:exactMatch DOID:1943 telogen effluvium semapv:UnspecifiedMatching MONDO:0002153 telogen effluvium skos:exactMatch ICD10CM:L65.0 Telogen effluvium semapv:UnspecifiedMatching MONDO:0002153 telogen effluvium skos:exactMatch MEDGEN:537938 semapv:UnspecifiedMatching MONDO:0002153 telogen effluvium skos:exactMatch NCIT:C112200 Telogen Effluvium semapv:UnspecifiedMatching MONDO:0002153 telogen effluvium skos:exactMatch SCTID:39479004 semapv:UnspecifiedMatching MONDO:0002153 telogen effluvium skos:exactMatch UMLS:C0263518 semapv:UnspecifiedMatching MONDO:0002153 telogen effluvium skos:exactMatch icd11.foundation:1188535025 Telogen effluvium semapv:UnspecifiedMatching MONDO:0002154 trichomoniasis skos:exactMatch DOID:1947 trichomoniasis semapv:UnspecifiedMatching MONDO:0002154 trichomoniasis skos:exactMatch ICD10CM:A59 Trichomoniasis semapv:UnspecifiedMatching MONDO:0002154 trichomoniasis skos:exactMatch ICD10WHO:A59 Trichomoniasis semapv:UnspecifiedMatching MONDO:0002154 trichomoniasis skos:exactMatch MEDGEN:52838 semapv:UnspecifiedMatching MONDO:0002154 trichomoniasis skos:exactMatch NCIT:C35720 Trichomonas Infection semapv:UnspecifiedMatching MONDO:0002154 trichomoniasis skos:exactMatch SCTID:56335008 semapv:UnspecifiedMatching MONDO:0002154 trichomoniasis skos:exactMatch UMLS:C0040921 semapv:UnspecifiedMatching MONDO:0002154 trichomoniasis skos:exactMatch icd11.foundation:1220564554 Trichomoniasis semapv:UnspecifiedMatching MONDO:0002154 trichomoniasis skos:exactMatch mesh:D014245 semapv:UnspecifiedMatching MONDO:0002155 cholecystitis skos:exactMatch DOID:1949 cholecystitis semapv:UnspecifiedMatching MONDO:0002155 cholecystitis skos:exactMatch ICD10CM:K81 Cholecystitis semapv:UnspecifiedMatching MONDO:0002155 cholecystitis skos:exactMatch ICD10WHO:K81 Cholecystitis semapv:UnspecifiedMatching MONDO:0002155 cholecystitis skos:exactMatch MEDGEN:920 semapv:UnspecifiedMatching MONDO:0002155 cholecystitis skos:exactMatch NCIT:C34465 Cholecystitis semapv:UnspecifiedMatching MONDO:0002155 cholecystitis skos:exactMatch SCTID:20824003 semapv:UnspecifiedMatching MONDO:0002155 cholecystitis skos:exactMatch UMLS:C0008325 semapv:UnspecifiedMatching MONDO:0002155 cholecystitis skos:exactMatch icd11.foundation:786251500 Cholecystitis semapv:UnspecifiedMatching MONDO:0002155 cholecystitis skos:exactMatch mesh:D002764 semapv:UnspecifiedMatching MONDO:0002156 fallopian tube disorder skos:exactMatch DOID:1962 fallopian tube disease semapv:UnspecifiedMatching MONDO:0002156 fallopian tube disorder skos:exactMatch EFO:0009548 semapv:UnspecifiedMatching MONDO:0002156 fallopian tube disorder skos:exactMatch MEDGEN:8774 semapv:UnspecifiedMatching MONDO:0002156 fallopian tube disorder skos:exactMatch NCIT:C26771 Fallopian Tube Disorder semapv:UnspecifiedMatching MONDO:0002156 fallopian tube disorder skos:exactMatch SCTID:128134005 semapv:UnspecifiedMatching MONDO:0002156 fallopian tube disorder skos:exactMatch UMLS:C0015556 semapv:UnspecifiedMatching MONDO:0002156 fallopian tube disorder skos:exactMatch mesh:D005184 semapv:UnspecifiedMatching MONDO:0002158 fallopian tube cancer skos:exactMatch DOID:1964 fallopian tube cancer semapv:UnspecifiedMatching MONDO:0002158 fallopian tube cancer skos:exactMatch ICD10CM:C57.0 Malignant neoplasm of fallopian tube semapv:UnspecifiedMatching MONDO:0002158 fallopian tube cancer skos:exactMatch MEDGEN:102276 semapv:UnspecifiedMatching MONDO:0002158 fallopian tube cancer skos:exactMatch NCIT:C7480 Malignant Fallopian Tube Neoplasm semapv:UnspecifiedMatching MONDO:0002158 fallopian tube cancer skos:exactMatch Orphanet:180242 Malignant tumor of fallopian tubes semapv:UnspecifiedMatching MONDO:0002158 fallopian tube cancer skos:exactMatch SCTID:363444001 semapv:UnspecifiedMatching MONDO:0002158 fallopian tube cancer skos:exactMatch UMLS:C0153579 semapv:UnspecifiedMatching MONDO:0002158 fallopian tube cancer skos:exactMatch icd11.foundation:459381514 Malignant neoplasms of fallopian tube semapv:UnspecifiedMatching MONDO:0002159 fallopian tube leiomyosarcoma skos:exactMatch DOID:1965 fallopian tube leiomyosarcoma semapv:UnspecifiedMatching MONDO:0002159 fallopian tube leiomyosarcoma skos:exactMatch MEDGEN:274488 semapv:UnspecifiedMatching MONDO:0002159 fallopian tube leiomyosarcoma skos:exactMatch NCIT:C40128 Fallopian Tube Leiomyosarcoma semapv:UnspecifiedMatching MONDO:0002159 fallopian tube leiomyosarcoma skos:exactMatch UMLS:C1517116 semapv:UnspecifiedMatching MONDO:0002162 fallopian tube adenosarcoma skos:exactMatch DOID:1973 fallopian tube adenosarcoma semapv:UnspecifiedMatching MONDO:0002162 fallopian tube adenosarcoma skos:exactMatch MEDGEN:275872 semapv:UnspecifiedMatching MONDO:0002162 fallopian tube adenosarcoma skos:exactMatch NCIT:C40125 Fallopian Tube Adenosarcoma semapv:UnspecifiedMatching MONDO:0002162 fallopian tube adenosarcoma skos:exactMatch UMLS:C1517121 semapv:UnspecifiedMatching MONDO:0002163 thymus lipoma skos:exactMatch DOID:1975 thymus lipoma semapv:UnspecifiedMatching MONDO:0002163 thymus lipoma skos:exactMatch MEDGEN:234427 semapv:UnspecifiedMatching MONDO:0002163 thymus lipoma skos:exactMatch NCIT:C6452 Thymolipoma semapv:UnspecifiedMatching MONDO:0002163 thymus lipoma skos:exactMatch UMLS:C1336744 semapv:UnspecifiedMatching MONDO:0002164 focal chorioretinitis skos:exactMatch DOID:1979 focal chorioretinitis semapv:UnspecifiedMatching MONDO:0002164 focal chorioretinitis skos:exactMatch ICD10CM:H30.0 Focal chorioretinal inflammation semapv:UnspecifiedMatching MONDO:0002164 focal chorioretinitis skos:exactMatch MEDGEN:509691 semapv:UnspecifiedMatching MONDO:0002164 focal chorioretinitis skos:exactMatch SCTID:15847003 semapv:UnspecifiedMatching MONDO:0002164 focal chorioretinitis skos:exactMatch UMLS:C0154870 semapv:UnspecifiedMatching MONDO:0002165 rectal neoplasm skos:exactMatch DOID:1984 rectal benign neoplasm semapv:UnspecifiedMatching MONDO:0002165 rectal neoplasm skos:exactMatch MEDGEN:11148 semapv:UnspecifiedMatching MONDO:0002165 rectal neoplasm skos:exactMatch NCIT:C3350 Rectal Neoplasm semapv:UnspecifiedMatching MONDO:0002165 rectal neoplasm skos:exactMatch SCTID:126847008 semapv:UnspecifiedMatching MONDO:0002165 rectal neoplasm skos:exactMatch UMLS:C0034885 semapv:UnspecifiedMatching MONDO:0002165 rectal neoplasm skos:exactMatch mesh:D012004 semapv:UnspecifiedMatching MONDO:0002166 rectum lymphoma skos:exactMatch DOID:1988 rectum lymphoma semapv:UnspecifiedMatching MONDO:0002166 rectum lymphoma skos:exactMatch MEDGEN:233393 semapv:UnspecifiedMatching MONDO:0002166 rectum lymphoma skos:exactMatch NCIT:C5553 Rectal Lymphoma semapv:UnspecifiedMatching MONDO:0002166 rectum lymphoma skos:exactMatch UMLS:C1335685 semapv:UnspecifiedMatching MONDO:0002167 rectum malignant melanoma skos:exactMatch DOID:1992 rectum malignant melanoma semapv:UnspecifiedMatching MONDO:0002167 rectum malignant melanoma skos:exactMatch MEDGEN:87605 semapv:UnspecifiedMatching MONDO:0002167 rectum malignant melanoma skos:exactMatch NCIT:C4640 Rectal Melanoma semapv:UnspecifiedMatching MONDO:0002167 rectum malignant melanoma skos:exactMatch SCTID:276822007 semapv:UnspecifiedMatching MONDO:0002167 rectum malignant melanoma skos:exactMatch UMLS:C0349539 semapv:UnspecifiedMatching MONDO:0002168 rectum sarcoma skos:exactMatch DOID:1995 rectum sarcoma semapv:UnspecifiedMatching MONDO:0002168 rectum sarcoma skos:exactMatch MEDGEN:277577 semapv:UnspecifiedMatching MONDO:0002168 rectum sarcoma skos:exactMatch NCIT:C5548 Rectal Sarcoma semapv:UnspecifiedMatching MONDO:0002168 rectum sarcoma skos:exactMatch UMLS:C1335688 semapv:UnspecifiedMatching MONDO:0002169 rectum adenocarcinoma skos:exactMatch DOID:1996 rectum adenocarcinoma semapv:UnspecifiedMatching MONDO:0002169 rectum adenocarcinoma skos:exactMatch EFO:0005631 semapv:UnspecifiedMatching MONDO:0002169 rectum adenocarcinoma skos:exactMatch MEDGEN:56214 semapv:UnspecifiedMatching MONDO:0002169 rectum adenocarcinoma skos:exactMatch NCIT:C9383 Rectal Adenocarcinoma semapv:UnspecifiedMatching MONDO:0002169 rectum adenocarcinoma skos:exactMatch SCTID:254582000 semapv:UnspecifiedMatching MONDO:0002169 rectum adenocarcinoma skos:exactMatch UMLS:C0149978 semapv:UnspecifiedMatching MONDO:0002169 rectum adenocarcinoma skos:exactMatch icd11.foundation:1316028436 Adenocarcinomas of rectum semapv:UnspecifiedMatching MONDO:0002170 chronic eustachian salpingitis skos:exactMatch DOID:1999 chronic eustachian salpingitis semapv:UnspecifiedMatching MONDO:0002170 chronic eustachian salpingitis skos:exactMatch ICD10CM:H68.02 Chronic Eustachian salpingitis semapv:UnspecifiedMatching MONDO:0002170 chronic eustachian salpingitis skos:exactMatch MEDGEN:509962 semapv:UnspecifiedMatching MONDO:0002170 chronic eustachian salpingitis skos:exactMatch SCTID:194269002 semapv:UnspecifiedMatching MONDO:0002170 chronic eustachian salpingitis skos:exactMatch UMLS:C0155430 semapv:UnspecifiedMatching MONDO:0002171 giant cell tumor skos:exactMatch DOID:200 benign giant cell tumor semapv:UnspecifiedMatching MONDO:0002171 giant cell tumor skos:exactMatch MEDGEN:6598 semapv:UnspecifiedMatching MONDO:0002171 giant cell tumor skos:exactMatch NCIT:C3055 Giant Cell Tumor semapv:UnspecifiedMatching MONDO:0002171 giant cell tumor skos:exactMatch SCTID:443790001 semapv:UnspecifiedMatching MONDO:0002171 giant cell tumor skos:exactMatch UMLS:C0017525 semapv:UnspecifiedMatching MONDO:0002171 giant cell tumor skos:exactMatch mesh:D005870 semapv:UnspecifiedMatching MONDO:0002172 otosalpingitis skos:exactMatch DOID:2000 otosalpingitis semapv:UnspecifiedMatching MONDO:0002172 otosalpingitis skos:exactMatch ICD10CM:H68.0 Eustachian salpingitis semapv:UnspecifiedMatching MONDO:0002172 otosalpingitis skos:exactMatch MEDGEN:509960 semapv:UnspecifiedMatching MONDO:0002172 otosalpingitis skos:exactMatch SCTID:270491006 semapv:UnspecifiedMatching MONDO:0002172 otosalpingitis skos:exactMatch UMLS:C0155428 semapv:UnspecifiedMatching MONDO:0002173 neuroma skos:exactMatch DOID:2001 neuroma semapv:UnspecifiedMatching MONDO:0002173 neuroma skos:exactMatch EFO:0009619 semapv:UnspecifiedMatching MONDO:0002173 neuroma skos:exactMatch MEDGEN:14352 semapv:UnspecifiedMatching MONDO:0002173 neuroma skos:exactMatch NCIT:C3275 Neuroma semapv:UnspecifiedMatching MONDO:0002173 neuroma skos:exactMatch SCTID:443892003 semapv:UnspecifiedMatching MONDO:0002173 neuroma skos:exactMatch UMLS:C0027858 semapv:UnspecifiedMatching MONDO:0002173 neuroma skos:exactMatch mesh:D009463 semapv:UnspecifiedMatching MONDO:0002174 preretinal fibrosis skos:exactMatch DOID:2006 preretinal fibrosis semapv:UnspecifiedMatching MONDO:0002174 preretinal fibrosis skos:exactMatch MEDGEN:87388 semapv:UnspecifiedMatching MONDO:0002174 preretinal fibrosis skos:exactMatch SCTID:367649002 semapv:UnspecifiedMatching MONDO:0002174 preretinal fibrosis skos:exactMatch UMLS:C0339543 semapv:UnspecifiedMatching MONDO:0002174 preretinal fibrosis skos:exactMatch mesh:D019773 semapv:UnspecifiedMatching MONDO:0002175 degeneration of macula and posterior pole skos:exactMatch DOID:2007 degeneration of macula and posterior pole semapv:UnspecifiedMatching MONDO:0002175 degeneration of macula and posterior pole skos:exactMatch ICD10CM:H35.3 Degeneration of macula and posterior pole semapv:UnspecifiedMatching MONDO:0002175 degeneration of macula and posterior pole skos:exactMatch MEDGEN:573150 semapv:UnspecifiedMatching MONDO:0002175 degeneration of macula and posterior pole skos:exactMatch SCTID:267611002 semapv:UnspecifiedMatching MONDO:0002175 degeneration of macula and posterior pole skos:exactMatch UMLS:C0339436 semapv:UnspecifiedMatching MONDO:0002176 obsolete connective tissue cancer skos:exactMatch DOID:201 connective tissue cancer semapv:UnspecifiedMatching MONDO:0002177 hyperinsulinism skos:exactMatch DOID:2018 hyperinsulinism semapv:UnspecifiedMatching MONDO:0002177 hyperinsulinism skos:exactMatch MEDGEN:43779 semapv:UnspecifiedMatching MONDO:0002177 hyperinsulinism skos:exactMatch SCTID:83469008 semapv:UnspecifiedMatching MONDO:0002177 hyperinsulinism skos:exactMatch UMLS:C0020459 semapv:UnspecifiedMatching MONDO:0002177 hyperinsulinism skos:exactMatch icd11.foundation:224022886 Hyperinsulinaemia semapv:UnspecifiedMatching MONDO:0002177 hyperinsulinism skos:exactMatch mesh:D006946 semapv:UnspecifiedMatching MONDO:0002178 placenta cancer skos:exactMatch DOID:2021 placenta cancer semapv:UnspecifiedMatching MONDO:0002178 placenta cancer skos:exactMatch ICD10CM:C58 Malignant neoplasm of placenta semapv:UnspecifiedMatching MONDO:0002178 placenta cancer skos:exactMatch MEDGEN:56310 semapv:UnspecifiedMatching MONDO:0002178 placenta cancer skos:exactMatch NCIT:C3555 Malignant Placental Neoplasm semapv:UnspecifiedMatching MONDO:0002178 placenta cancer skos:exactMatch SCTID:126920004 semapv:UnspecifiedMatching MONDO:0002178 placenta cancer skos:exactMatch UMLS:C0153572 semapv:UnspecifiedMatching MONDO:0002178 placenta cancer skos:exactMatch icd11.foundation:821359459 Malignant neoplasms of placenta semapv:UnspecifiedMatching MONDO:0002181 exostosis skos:exactMatch DOID:203 exostosis semapv:UnspecifiedMatching MONDO:0002181 exostosis skos:exactMatch MEDGEN:257035 semapv:UnspecifiedMatching MONDO:0002181 exostosis skos:exactMatch NCIT:C3029 Exostosis semapv:UnspecifiedMatching MONDO:0002181 exostosis skos:exactMatch SCTID:235231000119100 semapv:UnspecifiedMatching MONDO:0002181 exostosis skos:exactMatch SCTID:416189003 semapv:UnspecifiedMatching MONDO:0002181 exostosis skos:exactMatch UMLS:C1442903 semapv:UnspecifiedMatching MONDO:0002182 communication disorder skos:exactMatch DOID:2033 communication disorder semapv:UnspecifiedMatching MONDO:0002182 communication disorder skos:exactMatch MEDGEN:3549 semapv:UnspecifiedMatching MONDO:0002182 communication disorder skos:exactMatch NCIT:C2958 Communication Disorder semapv:UnspecifiedMatching MONDO:0002182 communication disorder skos:exactMatch SCTID:278919001 semapv:UnspecifiedMatching MONDO:0002182 communication disorder skos:exactMatch UMLS:C0009460 semapv:UnspecifiedMatching MONDO:0002182 communication disorder skos:exactMatch mesh:D003147 semapv:UnspecifiedMatching MONDO:0002183 enthesopathy skos:exactMatch DOID:204 enthesopathy semapv:UnspecifiedMatching MONDO:0002183 enthesopathy skos:exactMatch EFO:0009666 semapv:UnspecifiedMatching MONDO:0002183 enthesopathy skos:exactMatch MEDGEN:66909 semapv:UnspecifiedMatching MONDO:0002183 enthesopathy skos:exactMatch SCTID:23680005 semapv:UnspecifiedMatching MONDO:0002183 enthesopathy skos:exactMatch UMLS:C0242490 semapv:UnspecifiedMatching MONDO:0002183 enthesopathy skos:exactMatch mesh:D000070676 semapv:UnspecifiedMatching MONDO:0002184 drug-induced hepatitis skos:exactMatch DOID:2044 drug-induced hepatitis semapv:UnspecifiedMatching MONDO:0002184 drug-induced hepatitis skos:exactMatch MEDGEN:226802 semapv:UnspecifiedMatching MONDO:0002184 drug-induced hepatitis skos:exactMatch SCTID:235889003 semapv:UnspecifiedMatching MONDO:0002184 drug-induced hepatitis skos:exactMatch UMLS:C1262760 semapv:UnspecifiedMatching MONDO:0002185 hyperostosis skos:exactMatch DOID:205 hyperostosis semapv:UnspecifiedMatching MONDO:0002185 hyperostosis skos:exactMatch ICD10CM:M89.3 Hypertrophy of bone semapv:UnspecifiedMatching MONDO:0002185 hyperostosis skos:exactMatch MEDGEN:9366 semapv:UnspecifiedMatching MONDO:0002185 hyperostosis skos:exactMatch NCIT:C34712 Hyperostosis semapv:UnspecifiedMatching MONDO:0002185 hyperostosis skos:exactMatch SCTID:203514008 semapv:UnspecifiedMatching MONDO:0002185 hyperostosis skos:exactMatch UMLS:C0020492 semapv:UnspecifiedMatching MONDO:0002185 hyperostosis skos:exactMatch mesh:D015576 semapv:UnspecifiedMatching MONDO:0002186 acute maxillary sinusitis skos:exactMatch DOID:2050 acute maxillary sinusitis semapv:UnspecifiedMatching MONDO:0002186 acute maxillary sinusitis skos:exactMatch ICD10CM:J01.0 Acute maxillary sinusitis semapv:UnspecifiedMatching MONDO:0002186 acute maxillary sinusitis skos:exactMatch MEDGEN:510086 semapv:UnspecifiedMatching MONDO:0002186 acute maxillary sinusitis skos:exactMatch SCTID:68272006 semapv:UnspecifiedMatching MONDO:0002186 acute maxillary sinusitis skos:exactMatch UMLS:C0155804 semapv:UnspecifiedMatching MONDO:0002186 acute maxillary sinusitis skos:exactMatch icd11.foundation:1617309258 Acute maxillary sinusitis semapv:UnspecifiedMatching MONDO:0002187 vulvar disease skos:exactMatch DOID:2059 vulvar disease semapv:UnspecifiedMatching MONDO:0002187 vulvar disease skos:exactMatch MEDGEN:53055 semapv:UnspecifiedMatching MONDO:0002187 vulvar disease skos:exactMatch NCIT:C27631 Vulvar Disorder semapv:UnspecifiedMatching MONDO:0002187 vulvar disease skos:exactMatch SCTID:5089007 semapv:UnspecifiedMatching MONDO:0002187 vulvar disease skos:exactMatch UMLS:C0042994 semapv:UnspecifiedMatching MONDO:0002187 vulvar disease skos:exactMatch mesh:D014845 semapv:UnspecifiedMatching MONDO:0002188 vulvar nodular hidradenoma skos:exactMatch DOID:2060 vulvar nodular hidradenoma semapv:UnspecifiedMatching MONDO:0002188 vulvar nodular hidradenoma skos:exactMatch MEDGEN:276994 semapv:UnspecifiedMatching MONDO:0002188 vulvar nodular hidradenoma skos:exactMatch NCIT:C40312 Vulvar Nodular Hidradenoma semapv:UnspecifiedMatching MONDO:0002188 vulvar nodular hidradenoma skos:exactMatch UMLS:C1520091 semapv:UnspecifiedMatching MONDO:0002189 nodular hidradenoma skos:exactMatch DOID:2061 nodular hidradenoma semapv:UnspecifiedMatching MONDO:0002189 nodular hidradenoma skos:exactMatch MEDGEN:1374260 semapv:UnspecifiedMatching MONDO:0002189 nodular hidradenoma skos:exactMatch NCIT:C7568 Nodular Hidradenoma semapv:UnspecifiedMatching MONDO:0002189 nodular hidradenoma skos:exactMatch SCTID:253020008 semapv:UnspecifiedMatching MONDO:0002189 nodular hidradenoma skos:exactMatch UMLS:C4505470 semapv:UnspecifiedMatching MONDO:0002190 vulvar syringoma skos:exactMatch DOID:2064 vulvar syringoma semapv:UnspecifiedMatching MONDO:0002190 vulvar syringoma skos:exactMatch MEDGEN:311490 semapv:UnspecifiedMatching MONDO:0002190 vulvar syringoma skos:exactMatch NCIT:C40311 Vulvar Syringoma semapv:UnspecifiedMatching MONDO:0002190 vulvar syringoma skos:exactMatch UMLS:C1520099 semapv:UnspecifiedMatching MONDO:0002191 syringoma skos:exactMatch DOID:2065 syringoma semapv:UnspecifiedMatching MONDO:0002191 syringoma skos:exactMatch MEDGEN:60205 semapv:UnspecifiedMatching MONDO:0002191 syringoma skos:exactMatch NCIT:C3761 Syringoma semapv:UnspecifiedMatching MONDO:0002191 syringoma skos:exactMatch SCTID:302828001 semapv:UnspecifiedMatching MONDO:0002191 syringoma skos:exactMatch UMLS:C0206673 semapv:UnspecifiedMatching MONDO:0002191 syringoma skos:exactMatch icd11.foundation:1091480008 Syringoma semapv:UnspecifiedMatching MONDO:0002191 syringoma skos:exactMatch mesh:D018252 semapv:UnspecifiedMatching MONDO:0002192 vulvar angiokeratoma skos:exactMatch DOID:2066 vulvar angiokeratoma semapv:UnspecifiedMatching MONDO:0002192 vulvar angiokeratoma skos:exactMatch MEDGEN:266144 semapv:UnspecifiedMatching MONDO:0002192 vulvar angiokeratoma skos:exactMatch NCIT:C8596 Vulvar Angiokeratoma semapv:UnspecifiedMatching MONDO:0002192 vulvar angiokeratoma skos:exactMatch SCTID:402841001 semapv:UnspecifiedMatching MONDO:0002192 vulvar angiokeratoma skos:exactMatch UMLS:C1274281 semapv:UnspecifiedMatching MONDO:0002193 Bartholin gland benign neoplasm skos:exactMatch DOID:2068 Bartholin's gland benign neoplasm semapv:UnspecifiedMatching MONDO:0002193 Bartholin gland benign neoplasm skos:exactMatch MEDGEN:83868 semapv:UnspecifiedMatching MONDO:0002193 Bartholin gland benign neoplasm skos:exactMatch SCTID:189130001 semapv:UnspecifiedMatching MONDO:0002193 Bartholin gland benign neoplasm skos:exactMatch UMLS:C0347500 semapv:UnspecifiedMatching MONDO:0002194 vestibular papilloma skos:exactMatch DOID:2071 vulvar squamous papilloma semapv:UnspecifiedMatching MONDO:0002194 vestibular papilloma skos:exactMatch MEDGEN:277874 semapv:UnspecifiedMatching MONDO:0002194 vestibular papilloma skos:exactMatch NCIT:C6376 Vulvar Squamous Papilloma semapv:UnspecifiedMatching MONDO:0002194 vestibular papilloma skos:exactMatch UMLS:C1336982 semapv:UnspecifiedMatching MONDO:0002195 vulvar squamous neoplasm skos:exactMatch DOID:2072 vulvar squamous tumor semapv:UnspecifiedMatching MONDO:0002195 vulvar squamous neoplasm skos:exactMatch MEDGEN:276998 semapv:UnspecifiedMatching MONDO:0002195 vulvar squamous neoplasm skos:exactMatch NCIT:C40283 Vulvar Squamous Neoplasm semapv:UnspecifiedMatching MONDO:0002195 vulvar squamous neoplasm skos:exactMatch UMLS:C1520097 semapv:UnspecifiedMatching MONDO:0002196 perinatal intestinal perforation skos:exactMatch DOID:2073 perinatal intestinal perforation semapv:UnspecifiedMatching MONDO:0002196 perinatal intestinal perforation skos:exactMatch ICD10CM:P78.0 Perinatal intestinal perforation semapv:UnspecifiedMatching MONDO:0002196 perinatal intestinal perforation skos:exactMatch MEDGEN:510691 semapv:UnspecifiedMatching MONDO:0002196 perinatal intestinal perforation skos:exactMatch SCTID:65390006 semapv:UnspecifiedMatching MONDO:0002196 perinatal intestinal perforation skos:exactMatch UMLS:C0159006 semapv:UnspecifiedMatching MONDO:0002197 minor vestibular glands adenoma skos:exactMatch DOID:2075 minor vestibular glands adenoma semapv:UnspecifiedMatching MONDO:0002197 minor vestibular glands adenoma skos:exactMatch MEDGEN:267644 semapv:UnspecifiedMatching MONDO:0002197 minor vestibular glands adenoma skos:exactMatch NCIT:C40301 Adenoma of Minor Vestibular Glands semapv:UnspecifiedMatching MONDO:0002197 minor vestibular glands adenoma skos:exactMatch UMLS:C1510791 semapv:UnspecifiedMatching MONDO:0002198 vulvar glandular neoplasm skos:exactMatch DOID:2076 vulvar glandular tumor semapv:UnspecifiedMatching MONDO:0002198 vulvar glandular neoplasm skos:exactMatch MEDGEN:276991 semapv:UnspecifiedMatching MONDO:0002198 vulvar glandular neoplasm skos:exactMatch NCIT:C40292 Vulvar Glandular Neoplasm semapv:UnspecifiedMatching MONDO:0002198 vulvar glandular neoplasm skos:exactMatch UMLS:C1520082 semapv:UnspecifiedMatching MONDO:0002199 benign mixed tumor of the vulva skos:exactMatch DOID:2078 chondroid syringoma of the vulva semapv:UnspecifiedMatching MONDO:0002199 benign mixed tumor of the vulva skos:exactMatch MEDGEN:267714 semapv:UnspecifiedMatching MONDO:0002199 benign mixed tumor of the vulva skos:exactMatch NCIT:C40302 Benign Mixed Tumor of the Vulva semapv:UnspecifiedMatching MONDO:0002199 benign mixed tumor of the vulva skos:exactMatch UMLS:C1511091 semapv:UnspecifiedMatching MONDO:0002200 eccrine mixed tumor of skin skos:exactMatch DOID:2079 eccrine mixed tumor of skin semapv:UnspecifiedMatching MONDO:0002200 eccrine mixed tumor of skin skos:exactMatch EFO:1000385 semapv:UnspecifiedMatching MONDO:0002200 eccrine mixed tumor of skin skos:exactMatch MEDGEN:91074 semapv:UnspecifiedMatching MONDO:0002200 eccrine mixed tumor of skin skos:exactMatch NCIT:C4474 Skin Mixed Tumor semapv:UnspecifiedMatching MONDO:0002200 eccrine mixed tumor of skin skos:exactMatch SCTID:254720009 semapv:UnspecifiedMatching MONDO:0002200 eccrine mixed tumor of skin skos:exactMatch UMLS:C0346026 semapv:UnspecifiedMatching MONDO:0002201 vulvar trichoepithelioma skos:exactMatch DOID:2080 vulvar trichoepithelioma semapv:UnspecifiedMatching MONDO:0002201 vulvar trichoepithelioma skos:exactMatch MEDGEN:274418 semapv:UnspecifiedMatching MONDO:0002201 vulvar trichoepithelioma skos:exactMatch NCIT:C40314 Vulvar Trichoblastoma semapv:UnspecifiedMatching MONDO:0002201 vulvar trichoepithelioma skos:exactMatch UMLS:C1520100 semapv:UnspecifiedMatching MONDO:0002202 outlet dysfunction constipation skos:exactMatch ICD10CM:K59.02 Outlet dysfunction constipation semapv:UnspecifiedMatching MONDO:0002202 outlet dysfunction constipation skos:exactMatch MEDGEN:1843499 semapv:UnspecifiedMatching MONDO:0002202 outlet dysfunction constipation skos:exactMatch UMLS:C0949134 semapv:UnspecifiedMatching MONDO:0002203 constipation disorder skos:exactMatch ICD10CM:K59.0 Constipation semapv:UnspecifiedMatching MONDO:0002203 constipation disorder skos:exactMatch MEDGEN:1101 semapv:UnspecifiedMatching MONDO:0002203 constipation disorder skos:exactMatch NCIT:C37930 Constipation semapv:UnspecifiedMatching MONDO:0002203 constipation disorder skos:exactMatch SCTID:14760008 semapv:UnspecifiedMatching MONDO:0002203 constipation disorder skos:exactMatch UMLS:C0009806 semapv:UnspecifiedMatching MONDO:0002203 constipation disorder skos:exactMatch icd11.foundation:502284069 Constipation semapv:UnspecifiedMatching MONDO:0002203 constipation disorder skos:exactMatch mesh:D003248 semapv:UnspecifiedMatching MONDO:0002204 transient arthritis skos:exactMatch DOID:2092 transient arthritis semapv:UnspecifiedMatching MONDO:0002204 transient arthritis skos:exactMatch MEDGEN:854445 semapv:UnspecifiedMatching MONDO:0002204 transient arthritis skos:exactMatch SCTID:6011000119108 semapv:UnspecifiedMatching MONDO:0002204 transient arthritis skos:exactMatch UMLS:C3887596 semapv:UnspecifiedMatching MONDO:0002204 transient arthritis skos:exactMatch icd11.foundation:846745561 Transient arthritis semapv:UnspecifiedMatching MONDO:0002205 vulvar melanoma skos:exactMatch DOID:2093 vulvar melanoma semapv:UnspecifiedMatching MONDO:0002205 vulvar melanoma skos:exactMatch MEDGEN:66040 semapv:UnspecifiedMatching MONDO:0002205 vulvar melanoma skos:exactMatch NCIT:C40329 Vulvar Melanoma semapv:UnspecifiedMatching MONDO:0002205 vulvar melanoma skos:exactMatch SCTID:254896002 semapv:UnspecifiedMatching MONDO:0002205 vulvar melanoma skos:exactMatch UMLS:C0241989 semapv:UnspecifiedMatching MONDO:0002206 sweat gland cancer skos:exactMatch DOID:2095 sweat gland cancer semapv:UnspecifiedMatching MONDO:0002206 sweat gland cancer skos:exactMatch MEDGEN:231171 semapv:UnspecifiedMatching MONDO:0002206 sweat gland cancer skos:exactMatch NCIT:C4810 Malignant Sweat Gland Neoplasm semapv:UnspecifiedMatching MONDO:0002206 sweat gland cancer skos:exactMatch UMLS:C1321904 semapv:UnspecifiedMatching MONDO:0002207 vulval Paget disease skos:exactMatch DOID:2097 vulval Paget's disease semapv:UnspecifiedMatching MONDO:0002207 vulval Paget disease skos:exactMatch MEDGEN:266154 semapv:UnspecifiedMatching MONDO:0002207 vulval Paget disease skos:exactMatch NCIT:C4027 Vulvar Paget Disease semapv:UnspecifiedMatching MONDO:0002207 vulval Paget disease skos:exactMatch SCTID:254898001 semapv:UnspecifiedMatching MONDO:0002207 vulval Paget disease skos:exactMatch UMLS:C1275217 semapv:UnspecifiedMatching MONDO:0002209 heel spur skos:exactMatch DOID:210 heel spur semapv:UnspecifiedMatching MONDO:0002209 heel spur skos:exactMatch ICD10CM:M77.3 Calcaneal spur semapv:UnspecifiedMatching MONDO:0002209 heel spur skos:exactMatch MEDGEN:57853 semapv:UnspecifiedMatching MONDO:0002209 heel spur skos:exactMatch SCTID:55260003 semapv:UnspecifiedMatching MONDO:0002209 heel spur skos:exactMatch UMLS:C0158322 semapv:UnspecifiedMatching MONDO:0002209 heel spur skos:exactMatch mesh:D036982 semapv:UnspecifiedMatching MONDO:0002211 B cell deficiency skos:exactMatch DOID:2115 B cell deficiency semapv:UnspecifiedMatching MONDO:0002211 B cell deficiency skos:exactMatch MEDGEN:340780 semapv:UnspecifiedMatching MONDO:0002211 B cell deficiency skos:exactMatch NCIT:C4799 Deficiency of Humoral Immunity semapv:UnspecifiedMatching MONDO:0002211 B cell deficiency skos:exactMatch UMLS:C1855067 semapv:UnspecifiedMatching MONDO:0002212 pneumonic tularemia skos:exactMatch DOID:2122 pneumonic tularemia semapv:UnspecifiedMatching MONDO:0002212 pneumonic tularemia skos:exactMatch ICD10CM:A21.2 Pulmonary tularemia semapv:UnspecifiedMatching MONDO:0002212 pneumonic tularemia skos:exactMatch MEDGEN:573437 semapv:UnspecifiedMatching MONDO:0002212 pneumonic tularemia skos:exactMatch SCTID:45556008 semapv:UnspecifiedMatching MONDO:0002212 pneumonic tularemia skos:exactMatch UMLS:C0339946 semapv:UnspecifiedMatching MONDO:0002214 brain germinoma skos:exactMatch DOID:2127 brain germinoma semapv:UnspecifiedMatching MONDO:0002214 brain germinoma skos:exactMatch MEDGEN:231457 semapv:UnspecifiedMatching MONDO:0002214 brain germinoma skos:exactMatch NCIT:C6284 Brain Germinoma semapv:UnspecifiedMatching MONDO:0002214 brain germinoma skos:exactMatch UMLS:C1332606 semapv:UnspecifiedMatching MONDO:0002216 brain sarcoma skos:exactMatch DOID:2132 brain sarcoma semapv:UnspecifiedMatching MONDO:0002216 brain sarcoma skos:exactMatch MEDGEN:272381 semapv:UnspecifiedMatching MONDO:0002216 brain sarcoma skos:exactMatch NCIT:C5154 Brain Sarcoma semapv:UnspecifiedMatching MONDO:0002216 brain sarcoma skos:exactMatch UMLS:C1332607 semapv:UnspecifiedMatching MONDO:0002217 central nervous system sarcoma skos:exactMatch DOID:2133 central nervous system sarcoma semapv:UnspecifiedMatching MONDO:0002217 central nervous system sarcoma skos:exactMatch MEDGEN:272444 semapv:UnspecifiedMatching MONDO:0002217 central nervous system sarcoma skos:exactMatch NCIT:C5153 Central Nervous System Sarcoma semapv:UnspecifiedMatching MONDO:0002217 central nervous system sarcoma skos:exactMatch UMLS:C1332892 semapv:UnspecifiedMatching MONDO:0002218 temporal lobe cancer skos:exactMatch DOID:2135 temporal lobe neoplasm semapv:UnspecifiedMatching MONDO:0002218 temporal lobe cancer skos:exactMatch ICD10CM:C71.2 Malignant neoplasm of temporal lobe semapv:UnspecifiedMatching MONDO:0002218 temporal lobe cancer skos:exactMatch MEDGEN:509347 semapv:UnspecifiedMatching MONDO:0002218 temporal lobe cancer skos:exactMatch SCTID:363468009 semapv:UnspecifiedMatching MONDO:0002218 temporal lobe cancer skos:exactMatch UMLS:C0153636 semapv:UnspecifiedMatching MONDO:0002218 temporal lobe cancer skos:exactMatch icd11.foundation:221444544 Malignant neoplasm of temporal lobe of brain semapv:UnspecifiedMatching MONDO:0002219 paraurethral gland neoplasm skos:exactMatch DOID:2139 paraurethral gland neoplasm semapv:UnspecifiedMatching MONDO:0002219 paraurethral gland neoplasm skos:exactMatch MEDGEN:574628 semapv:UnspecifiedMatching MONDO:0002219 paraurethral gland neoplasm skos:exactMatch SCTID:126884005 semapv:UnspecifiedMatching MONDO:0002219 paraurethral gland neoplasm skos:exactMatch UMLS:C0341766 semapv:UnspecifiedMatching MONDO:0002220 tooth hard tissue disease skos:exactMatch DOID:214 teeth hard tissue disease semapv:UnspecifiedMatching MONDO:0002220 tooth hard tissue disease skos:exactMatch ICD10CM:K03 Other diseases of hard tissues of teeth semapv:UnspecifiedMatching MONDO:0002220 tooth hard tissue disease skos:exactMatch MEDGEN:510140 semapv:UnspecifiedMatching MONDO:0002220 tooth hard tissue disease skos:exactMatch SCTID:46557008 semapv:UnspecifiedMatching MONDO:0002220 tooth hard tissue disease skos:exactMatch UMLS:C0155926 semapv:UnspecifiedMatching MONDO:0002221 urethral urothelial papilloma skos:exactMatch DOID:2140 urethral urothelial papilloma semapv:UnspecifiedMatching MONDO:0002221 urethral urothelial papilloma skos:exactMatch MEDGEN:275549 semapv:UnspecifiedMatching MONDO:0002221 urethral urothelial papilloma skos:exactMatch NCIT:C5061 Urethral Urothelial Papilloma semapv:UnspecifiedMatching MONDO:0002221 urethral urothelial papilloma skos:exactMatch UMLS:C1519826 semapv:UnspecifiedMatching MONDO:0002222 urethra leiomyoma skos:exactMatch DOID:2142 urethra leiomyoma semapv:UnspecifiedMatching MONDO:0002222 urethra leiomyoma skos:exactMatch MEDGEN:237035 semapv:UnspecifiedMatching MONDO:0002222 urethra leiomyoma skos:exactMatch NCIT:C6171 Urethral Leiomyoma semapv:UnspecifiedMatching MONDO:0002222 urethra leiomyoma skos:exactMatch UMLS:C1336888 semapv:UnspecifiedMatching MONDO:0002223 ovarian malignant mesothelioma skos:exactMatch DOID:2143 ovarian malignant mesothelioma semapv:UnspecifiedMatching MONDO:0002223 ovarian malignant mesothelioma skos:exactMatch MEDGEN:274089 semapv:UnspecifiedMatching MONDO:0002223 ovarian malignant mesothelioma skos:exactMatch NCIT:C40444 Ovarian Malignant Mesothelioma semapv:UnspecifiedMatching MONDO:0002223 ovarian malignant mesothelioma skos:exactMatch UMLS:C1518721 semapv:UnspecifiedMatching MONDO:0002224 malignant ovarian cyst skos:exactMatch DOID:2145 malignant ovarian cyst semapv:UnspecifiedMatching MONDO:0002224 malignant ovarian cyst skos:exactMatch MEDGEN:116000 semapv:UnspecifiedMatching MONDO:0002224 malignant ovarian cyst skos:exactMatch NCIT:C3843 Malignant Ovarian Cyst semapv:UnspecifiedMatching MONDO:0002224 malignant ovarian cyst skos:exactMatch UMLS:C0235770 semapv:UnspecifiedMatching MONDO:0002225 ovarian sarcoma skos:exactMatch DOID:2146 ovary sarcoma semapv:UnspecifiedMatching MONDO:0002225 ovarian sarcoma skos:exactMatch MEDGEN:128881 semapv:UnspecifiedMatching MONDO:0002225 ovarian sarcoma skos:exactMatch NCIT:C8267 Ovarian Sarcoma semapv:UnspecifiedMatching MONDO:0002225 ovarian sarcoma skos:exactMatch SCTID:423627007 semapv:UnspecifiedMatching MONDO:0002225 ovarian sarcoma skos:exactMatch UMLS:C0280746 semapv:UnspecifiedMatching MONDO:0002226 tuberculous oophoritis skos:exactMatch DOID:2148 tuberculous oophoritis semapv:UnspecifiedMatching MONDO:0002226 tuberculous oophoritis skos:exactMatch MEDGEN:546959 semapv:UnspecifiedMatching MONDO:0002226 tuberculous oophoritis skos:exactMatch SCTID:84194006 semapv:UnspecifiedMatching MONDO:0002226 tuberculous oophoritis skos:exactMatch UMLS:C0275932 semapv:UnspecifiedMatching MONDO:0002226 tuberculous oophoritis skos:exactMatch icd11.foundation:1634640694 Tuberculous oophoritis semapv:UnspecifiedMatching MONDO:0002227 ovarian lymphoma skos:exactMatch DOID:2150 ovarian lymphoma semapv:UnspecifiedMatching MONDO:0002227 ovarian lymphoma skos:exactMatch MEDGEN:276669 semapv:UnspecifiedMatching MONDO:0002227 ovarian lymphoma skos:exactMatch NCIT:C40021 Ovarian Lymphoma semapv:UnspecifiedMatching MONDO:0002227 ovarian lymphoma skos:exactMatch UMLS:C1518720 semapv:UnspecifiedMatching MONDO:0002229 ovarian epithelial tumor skos:exactMatch DOID:2152 ovary epithelial cancer semapv:UnspecifiedMatching MONDO:0002229 ovarian epithelial tumor skos:exactMatch MEDGEN:90969 semapv:UnspecifiedMatching MONDO:0002229 ovarian epithelial tumor skos:exactMatch NCIT:C4381 Ovarian Epithelial Tumor semapv:UnspecifiedMatching MONDO:0002229 ovarian epithelial tumor skos:exactMatch SCTID:237057005 semapv:UnspecifiedMatching MONDO:0002229 ovarian epithelial tumor skos:exactMatch UMLS:C0341823 semapv:UnspecifiedMatching MONDO:0002230 ovarian Wilms tumor skos:exactMatch DOID:2153 ovarian Wilms' cancer semapv:UnspecifiedMatching MONDO:0002230 ovarian Wilms tumor skos:exactMatch MEDGEN:275296 semapv:UnspecifiedMatching MONDO:0002230 ovarian Wilms tumor skos:exactMatch NCIT:C40443 Ovarian Wilms Tumor semapv:UnspecifiedMatching MONDO:0002230 ovarian Wilms tumor skos:exactMatch UMLS:C1518746 semapv:UnspecifiedMatching MONDO:0002232 nasal cavity disorder skos:exactMatch DOID:2163 nasal cavity disease semapv:UnspecifiedMatching MONDO:0002232 nasal cavity disorder skos:exactMatch MEDGEN:137929 semapv:UnspecifiedMatching MONDO:0002232 nasal cavity disorder skos:exactMatch NCIT:C27102 Nasal Cavity Disorder semapv:UnspecifiedMatching MONDO:0002232 nasal cavity disorder skos:exactMatch SCTID:232340005 semapv:UnspecifiedMatching MONDO:0002232 nasal cavity disorder skos:exactMatch UMLS:C0339820 semapv:UnspecifiedMatching MONDO:0002233 enamel caries skos:exactMatch DOID:217 enamel caries semapv:UnspecifiedMatching MONDO:0002233 enamel caries skos:exactMatch MEDGEN:540214 semapv:UnspecifiedMatching MONDO:0002233 enamel caries skos:exactMatch SCTID:80353004 semapv:UnspecifiedMatching MONDO:0002233 enamel caries skos:exactMatch UMLS:C0266853 semapv:UnspecifiedMatching MONDO:0002234 vaginitis skos:exactMatch DOID:2170 vaginitis semapv:UnspecifiedMatching MONDO:0002234 vaginitis skos:exactMatch MEDGEN:21815 semapv:UnspecifiedMatching MONDO:0002234 vaginitis skos:exactMatch NCIT:C26911 Vaginitis semapv:UnspecifiedMatching MONDO:0002234 vaginitis skos:exactMatch SCTID:30800001 semapv:UnspecifiedMatching MONDO:0002234 vaginitis skos:exactMatch UMLS:C0042267 semapv:UnspecifiedMatching MONDO:0002234 vaginitis skos:exactMatch icd11.foundation:290861382 Vaginitis semapv:UnspecifiedMatching MONDO:0002234 vaginitis skos:exactMatch mesh:D014627 semapv:UnspecifiedMatching MONDO:0002235 eyelid neoplasm skos:exactMatch DOID:2173 eyelid benign neoplasm semapv:UnspecifiedMatching MONDO:0002235 eyelid neoplasm skos:exactMatch EFO:1000934 semapv:UnspecifiedMatching MONDO:0002235 eyelid neoplasm skos:exactMatch MEDGEN:41939 semapv:UnspecifiedMatching MONDO:0002235 eyelid neoplasm skos:exactMatch NCIT:C3031 Eyelid Neoplasm semapv:UnspecifiedMatching MONDO:0002235 eyelid neoplasm skos:exactMatch SCTID:278697001 semapv:UnspecifiedMatching MONDO:0002235 eyelid neoplasm skos:exactMatch UMLS:C0015424 semapv:UnspecifiedMatching MONDO:0002235 eyelid neoplasm skos:exactMatch mesh:D005142 semapv:UnspecifiedMatching MONDO:0002236 ocular cancer skos:exactMatch DOID:2174 ocular cancer semapv:UnspecifiedMatching MONDO:0002236 ocular cancer skos:exactMatch MEDGEN:105418 semapv:UnspecifiedMatching MONDO:0002236 ocular cancer skos:exactMatch NCIT:C4767 Malignant Eye Neoplasm semapv:UnspecifiedMatching MONDO:0002236 ocular cancer skos:exactMatch SCTID:371486001 semapv:UnspecifiedMatching MONDO:0002236 ocular cancer skos:exactMatch UMLS:C0496836 semapv:UnspecifiedMatching MONDO:0002236 ocular cancer skos:exactMatch mesh:D005134 semapv:UnspecifiedMatching MONDO:0002237 carbuncle skos:exactMatch DOID:2176 carbuncle semapv:UnspecifiedMatching MONDO:0002237 carbuncle skos:exactMatch MEDGEN:2866 semapv:UnspecifiedMatching MONDO:0002237 carbuncle skos:exactMatch SCTID:416893007 semapv:UnspecifiedMatching MONDO:0002237 carbuncle skos:exactMatch UMLS:C0007078 semapv:UnspecifiedMatching MONDO:0002237 carbuncle skos:exactMatch icd11.foundation:1456834066 Carbuncle semapv:UnspecifiedMatching MONDO:0002237 carbuncle skos:exactMatch mesh:D002270 semapv:UnspecifiedMatching MONDO:0002238 ascending colon cancer skos:exactMatch DOID:218 ascending colon cancer semapv:UnspecifiedMatching MONDO:0002238 ascending colon cancer skos:exactMatch ICD10CM:C18.2 Malignant neoplasm of ascending colon semapv:UnspecifiedMatching MONDO:0002238 ascending colon cancer skos:exactMatch MEDGEN:509293 semapv:UnspecifiedMatching MONDO:0002238 ascending colon cancer skos:exactMatch SCTID:363412000 semapv:UnspecifiedMatching MONDO:0002238 ascending colon cancer skos:exactMatch UMLS:C0153439 semapv:UnspecifiedMatching MONDO:0002238 ascending colon cancer skos:exactMatch icd11.foundation:74144027 Malignant neoplasm of ascending colon semapv:UnspecifiedMatching MONDO:0002239 post-surgical hypoinsulinemia skos:exactMatch DOID:2181 post-surgical hypoinsulinemia semapv:UnspecifiedMatching MONDO:0002239 post-surgical hypoinsulinemia skos:exactMatch MEDGEN:509539 semapv:UnspecifiedMatching MONDO:0002239 post-surgical hypoinsulinemia skos:exactMatch SCTID:190437000 semapv:UnspecifiedMatching MONDO:0002239 post-surgical hypoinsulinemia skos:exactMatch UMLS:C0154190 semapv:UnspecifiedMatching MONDO:0002240 acute perichondritis of pinna skos:exactMatch DOID:221 acute perichondritis of pinna semapv:UnspecifiedMatching MONDO:0002240 acute perichondritis of pinna skos:exactMatch MEDGEN:509946 semapv:UnspecifiedMatching MONDO:0002240 acute perichondritis of pinna skos:exactMatch SCTID:45855004 semapv:UnspecifiedMatching MONDO:0002240 acute perichondritis of pinna skos:exactMatch UMLS:C0155390 semapv:UnspecifiedMatching MONDO:0002241 factor XIII deficiency skos:exactMatch MEDGEN:1385982 semapv:UnspecifiedMatching MONDO:0002241 factor XIII deficiency skos:exactMatch UMLS:C4316906 semapv:UnspecifiedMatching MONDO:0002241 factor XIII deficiency skos:exactMatch mesh:D005177 semapv:UnspecifiedMatching MONDO:0002242 coagulation protein disease skos:exactMatch MEDGEN:108723 semapv:UnspecifiedMatching MONDO:0002242 coagulation protein disease skos:exactMatch NCIT:C27215 Coagulation Factor Deficiency semapv:UnspecifiedMatching MONDO:0002242 coagulation protein disease skos:exactMatch SCTID:86075001 semapv:UnspecifiedMatching MONDO:0002242 coagulation protein disease skos:exactMatch UMLS:C0600503 semapv:UnspecifiedMatching MONDO:0002242 coagulation protein disease skos:exactMatch mesh:D020147 semapv:UnspecifiedMatching MONDO:0002243 hemorrhagic disease skos:exactMatch DOID:2213 hemorrhagic disease semapv:UnspecifiedMatching MONDO:0002243 hemorrhagic disease skos:exactMatch MEDGEN:6799 semapv:UnspecifiedMatching MONDO:0002243 hemorrhagic disease skos:exactMatch NCIT:C115221 Bleeding Diathesis semapv:UnspecifiedMatching MONDO:0002243 hemorrhagic disease skos:exactMatch UMLS:C0019087 semapv:UnspecifiedMatching MONDO:0002243 hemorrhagic disease skos:exactMatch mesh:D006474 semapv:UnspecifiedMatching MONDO:0002244 factor VII deficiency skos:exactMatch MEDGEN:8769 semapv:UnspecifiedMatching MONDO:0002244 factor VII deficiency skos:exactMatch SCTID:37193007 semapv:UnspecifiedMatching MONDO:0002244 factor VII deficiency skos:exactMatch UMLS:C0015503 semapv:UnspecifiedMatching MONDO:0002244 factor VII deficiency skos:exactMatch mesh:D005168 semapv:UnspecifiedMatching MONDO:0002245 blood platelet disease skos:exactMatch MEDGEN:57492 semapv:UnspecifiedMatching MONDO:0002245 blood platelet disease skos:exactMatch NCIT:C131634 Platelet Disorder semapv:UnspecifiedMatching MONDO:0002245 blood platelet disease skos:exactMatch SCTID:22716005 semapv:UnspecifiedMatching MONDO:0002245 blood platelet disease skos:exactMatch UMLS:C0151854 semapv:UnspecifiedMatching MONDO:0002245 blood platelet disease skos:exactMatch mesh:D001791 semapv:UnspecifiedMatching MONDO:0002246 perichondritis of auricle skos:exactMatch DOID:222 perichondritis of auricle semapv:UnspecifiedMatching MONDO:0002246 perichondritis of auricle skos:exactMatch MEDGEN:509945 semapv:UnspecifiedMatching MONDO:0002246 perichondritis of auricle skos:exactMatch SCTID:34129005 semapv:UnspecifiedMatching MONDO:0002246 perichondritis of auricle skos:exactMatch UMLS:C0155389 semapv:UnspecifiedMatching MONDO:0002247 factor X deficiency skos:exactMatch MEDGEN:4635 semapv:UnspecifiedMatching MONDO:0002247 factor X deficiency skos:exactMatch NCIT:C131632 Factor X Deficiency semapv:UnspecifiedMatching MONDO:0002247 factor X deficiency skos:exactMatch SCTID:76642003 semapv:UnspecifiedMatching MONDO:0002247 factor X deficiency skos:exactMatch UMLS:C0015519 semapv:UnspecifiedMatching MONDO:0002247 factor X deficiency skos:exactMatch mesh:D005171 semapv:UnspecifiedMatching MONDO:0002249 thrombocytosis disease skos:exactMatch DOID:2228 thrombocytosis semapv:UnspecifiedMatching MONDO:0002249 thrombocytosis disease skos:exactMatch MEDGEN:163397 semapv:UnspecifiedMatching MONDO:0002249 thrombocytosis disease skos:exactMatch NCIT:C35530 Thrombocytosis semapv:UnspecifiedMatching MONDO:0002249 thrombocytosis disease skos:exactMatch SCTID:6631009 semapv:UnspecifiedMatching MONDO:0002249 thrombocytosis disease skos:exactMatch UMLS:C0836924 semapv:UnspecifiedMatching MONDO:0002249 thrombocytosis disease skos:exactMatch mesh:D013922 semapv:UnspecifiedMatching MONDO:0002250 basilar artery insufficiency skos:exactMatch DOID:223 basilar artery insufficiency semapv:UnspecifiedMatching MONDO:0002250 basilar artery insufficiency skos:exactMatch MEDGEN:14039 semapv:UnspecifiedMatching MONDO:0002250 basilar artery insufficiency skos:exactMatch NCIT:C34413 Basilar Artery Syndrome semapv:UnspecifiedMatching MONDO:0002250 basilar artery insufficiency skos:exactMatch SCTID:64009001 semapv:UnspecifiedMatching MONDO:0002250 basilar artery insufficiency skos:exactMatch UMLS:C0004812 semapv:UnspecifiedMatching MONDO:0002250 basilar artery insufficiency skos:exactMatch icd11.foundation:440367679 Basilar artery syndrome semapv:UnspecifiedMatching MONDO:0002251 hepatitis skos:exactMatch DOID:2237 hepatitis semapv:UnspecifiedMatching MONDO:0002251 hepatitis skos:exactMatch MEDGEN:5515 semapv:UnspecifiedMatching MONDO:0002251 hepatitis skos:exactMatch NCIT:C3095 Hepatitis semapv:UnspecifiedMatching MONDO:0002251 hepatitis skos:exactMatch SCTID:197268000 semapv:UnspecifiedMatching MONDO:0002251 hepatitis skos:exactMatch UMLS:C0019158 semapv:UnspecifiedMatching MONDO:0002251 hepatitis skos:exactMatch mesh:D006505 semapv:UnspecifiedMatching MONDO:0002252 granulomatous hepatitis skos:exactMatch DOID:2239 granulomatous hepatitis semapv:UnspecifiedMatching MONDO:0002252 granulomatous hepatitis skos:exactMatch MEDGEN:115987 semapv:UnspecifiedMatching MONDO:0002252 granulomatous hepatitis skos:exactMatch NCIT:C27015 Granulomatous Hepatitis semapv:UnspecifiedMatching MONDO:0002252 granulomatous hepatitis skos:exactMatch SCTID:86514004 semapv:UnspecifiedMatching MONDO:0002252 granulomatous hepatitis skos:exactMatch UMLS:C0235369 semapv:UnspecifiedMatching MONDO:0002253 spondylosis skos:exactMatch DOID:2247 spondylosis semapv:UnspecifiedMatching MONDO:0002253 spondylosis skos:exactMatch ICD10CM:M47 Spondylosis semapv:UnspecifiedMatching MONDO:0002253 spondylosis skos:exactMatch ICD10WHO:M47 Spondylosis semapv:UnspecifiedMatching MONDO:0002253 spondylosis skos:exactMatch MEDGEN:21295 semapv:UnspecifiedMatching MONDO:0002253 spondylosis skos:exactMatch SCTID:48210000 semapv:UnspecifiedMatching MONDO:0002253 spondylosis skos:exactMatch UMLS:C0038019 semapv:UnspecifiedMatching MONDO:0002253 spondylosis skos:exactMatch mesh:D055009 semapv:UnspecifiedMatching MONDO:0002254 syndromic disease skos:exactMatch DOID:225 syndrome semapv:UnspecifiedMatching MONDO:0002254 syndromic disease skos:exactMatch MEDGEN:11688 semapv:UnspecifiedMatching MONDO:0002254 syndromic disease skos:exactMatch NCIT:C28193 Syndrome semapv:UnspecifiedMatching MONDO:0002254 syndromic disease skos:exactMatch UMLS:C0039082 semapv:UnspecifiedMatching MONDO:0002254 syndromic disease skos:exactMatch mesh:D013577 semapv:UnspecifiedMatching MONDO:0002255 hypertrophic elongation of cervix skos:exactMatch DOID:2251 hypertrophic elongation of cervix semapv:UnspecifiedMatching MONDO:0002255 hypertrophic elongation of cervix skos:exactMatch MEDGEN:507825 semapv:UnspecifiedMatching MONDO:0002255 hypertrophic elongation of cervix skos:exactMatch SCTID:198353000 semapv:UnspecifiedMatching MONDO:0002255 hypertrophic elongation of cervix skos:exactMatch UMLS:C0020561 semapv:UnspecifiedMatching MONDO:0002256 cervix disorder skos:exactMatch DOID:2253 cervix disease semapv:UnspecifiedMatching MONDO:0002256 cervix disorder skos:exactMatch MEDGEN:2970 semapv:UnspecifiedMatching MONDO:0002256 cervix disorder skos:exactMatch NCIT:C40241 Cervical Disorder semapv:UnspecifiedMatching MONDO:0002256 cervix disorder skos:exactMatch SCTID:63339007 semapv:UnspecifiedMatching MONDO:0002256 cervix disorder skos:exactMatch UMLS:C0007867 semapv:UnspecifiedMatching MONDO:0002256 cervix disorder skos:exactMatch mesh:D002577 semapv:UnspecifiedMatching MONDO:0002257 ankylosis skos:exactMatch DOID:227 ankylosis semapv:UnspecifiedMatching MONDO:0002257 ankylosis skos:exactMatch MEDGEN:8101 semapv:UnspecifiedMatching MONDO:0002257 ankylosis skos:exactMatch SCTID:111227009 semapv:UnspecifiedMatching MONDO:0002257 ankylosis skos:exactMatch UMLS:C0003090 semapv:UnspecifiedMatching MONDO:0002257 ankylosis skos:exactMatch mesh:D000844 semapv:UnspecifiedMatching MONDO:0002258 pharyngitis skos:exactMatch DOID:2275 pharyngitis semapv:UnspecifiedMatching MONDO:0002258 pharyngitis skos:exactMatch MEDGEN:45846 semapv:UnspecifiedMatching MONDO:0002258 pharyngitis skos:exactMatch NCIT:C26851 Pharyngitis semapv:UnspecifiedMatching MONDO:0002258 pharyngitis skos:exactMatch SCTID:405737000 semapv:UnspecifiedMatching MONDO:0002258 pharyngitis skos:exactMatch UMLS:C0031350 semapv:UnspecifiedMatching MONDO:0002258 pharyngitis skos:exactMatch mesh:D010612 semapv:UnspecifiedMatching MONDO:0002259 gonadal disorder skos:exactMatch DOID:2277 gonadal disease semapv:UnspecifiedMatching MONDO:0002259 gonadal disorder skos:exactMatch MEDGEN:9074 semapv:UnspecifiedMatching MONDO:0002259 gonadal disorder skos:exactMatch NCIT:C26786 Gonadal Disorder semapv:UnspecifiedMatching MONDO:0002259 gonadal disorder skos:exactMatch UMLS:C0018050 semapv:UnspecifiedMatching MONDO:0002259 gonadal disorder skos:exactMatch mesh:D006058 semapv:UnspecifiedMatching MONDO:0002260 hidradenitis skos:exactMatch DOID:2282 hidradenitis semapv:UnspecifiedMatching MONDO:0002260 hidradenitis skos:exactMatch MEDGEN:43115 semapv:UnspecifiedMatching MONDO:0002260 hidradenitis skos:exactMatch NCIT:C32132 Apocrine Sweat Gland semapv:UnspecifiedMatching MONDO:0002260 hidradenitis skos:exactMatch SCTID:69741000 semapv:UnspecifiedMatching MONDO:0002260 hidradenitis skos:exactMatch UMLS:C0085160 semapv:UnspecifiedMatching MONDO:0002260 hidradenitis skos:exactMatch mesh:D016575 semapv:UnspecifiedMatching MONDO:0002261 keratopathy skos:exactMatch DOID:2283 keratopathy semapv:UnspecifiedMatching MONDO:0002261 keratopathy skos:exactMatch MEDGEN:68615 semapv:UnspecifiedMatching MONDO:0002261 keratopathy skos:exactMatch NCIT:C27012 Keratopathy semapv:UnspecifiedMatching MONDO:0002261 keratopathy skos:exactMatch UMLS:C0235270 semapv:UnspecifiedMatching MONDO:0002262 capillary lymphangioma skos:exactMatch DOID:2286 capillary lymphangioma semapv:UnspecifiedMatching MONDO:0002262 capillary lymphangioma skos:exactMatch MEDGEN:569678 semapv:UnspecifiedMatching MONDO:0002262 capillary lymphangioma skos:exactMatch SCTID:445492005 semapv:UnspecifiedMatching MONDO:0002262 capillary lymphangioma skos:exactMatch UMLS:C0334543 semapv:UnspecifiedMatching MONDO:0002263 female reproductive system disorder skos:exactMatch DOID:229 female reproductive system disease semapv:UnspecifiedMatching MONDO:0002263 female reproductive system disorder skos:exactMatch EFO:0009549 semapv:UnspecifiedMatching MONDO:0002263 female reproductive system disorder skos:exactMatch MEDGEN:65928 semapv:UnspecifiedMatching MONDO:0002263 female reproductive system disorder skos:exactMatch NCIT:C27020 Female Reproductive System Disorder semapv:UnspecifiedMatching MONDO:0002263 female reproductive system disorder skos:exactMatch SCTID:310789003 semapv:UnspecifiedMatching MONDO:0002263 female reproductive system disorder skos:exactMatch UMLS:C0236100 semapv:UnspecifiedMatching MONDO:0002263 female reproductive system disorder skos:exactMatch mesh:D005831 semapv:UnspecifiedMatching MONDO:0002264 obsolete atrophy of prostate skos:exactMatch DOID:2301 atrophy of prostate semapv:UnspecifiedMatching MONDO:0002264 obsolete atrophy of prostate skos:exactMatch ICD10WHO:N42.2 Atrophy of prostate semapv:UnspecifiedMatching MONDO:0002264 obsolete atrophy of prostate skos:exactMatch SCTID:29524003 semapv:UnspecifiedMatching MONDO:0002265 stereotypic movement disorder skos:exactMatch DOID:2303 stereotypic movement disorder semapv:UnspecifiedMatching MONDO:0002265 stereotypic movement disorder skos:exactMatch MEDGEN:21320 semapv:UnspecifiedMatching MONDO:0002265 stereotypic movement disorder skos:exactMatch SCTID:5507002 semapv:UnspecifiedMatching MONDO:0002265 stereotypic movement disorder skos:exactMatch UMLS:C0038273 semapv:UnspecifiedMatching MONDO:0002265 stereotypic movement disorder skos:exactMatch mesh:D019956 semapv:UnspecifiedMatching MONDO:0002266 malt worker's lung skos:exactMatch DOID:2314 malt worker's lung semapv:UnspecifiedMatching MONDO:0002266 malt worker's lung skos:exactMatch MEDGEN:510125 semapv:UnspecifiedMatching MONDO:0002266 malt worker's lung skos:exactMatch SCTID:25897000 semapv:UnspecifiedMatching MONDO:0002266 malt worker's lung skos:exactMatch UMLS:C0155888 semapv:UnspecifiedMatching MONDO:0002267 obstructive lung disease skos:exactMatch DOID:2320 obstructive lung disease semapv:UnspecifiedMatching MONDO:0002267 obstructive lung disease skos:exactMatch MEDGEN:1387 semapv:UnspecifiedMatching MONDO:0002267 obstructive lung disease skos:exactMatch UMLS:C0001883 semapv:UnspecifiedMatching MONDO:0002267 obstructive lung disease skos:exactMatch mesh:D008173 semapv:UnspecifiedMatching MONDO:0002268 dyspepsia skos:exactMatch EFO:0008533 semapv:UnspecifiedMatching MONDO:0002268 dyspepsia skos:exactMatch ICD10CM:K30 Functional dyspepsia semapv:UnspecifiedMatching MONDO:0002268 dyspepsia skos:exactMatch MEDGEN:41681 semapv:UnspecifiedMatching MONDO:0002268 dyspepsia skos:exactMatch NCIT:C26756 Dyspepsia semapv:UnspecifiedMatching MONDO:0002268 dyspepsia skos:exactMatch UMLS:C0013395 semapv:UnspecifiedMatching MONDO:0002268 dyspepsia skos:exactMatch icd11.foundation:869622187 Dyspepsia semapv:UnspecifiedMatching MONDO:0002268 dyspepsia skos:exactMatch mesh:D004415 semapv:UnspecifiedMatching MONDO:0002269 gastroenteritis skos:exactMatch DOID:2326 gastroenteritis semapv:UnspecifiedMatching MONDO:0002269 gastroenteritis skos:exactMatch EFO:1001463 semapv:UnspecifiedMatching MONDO:0002269 gastroenteritis skos:exactMatch MEDGEN:8967 semapv:UnspecifiedMatching MONDO:0002269 gastroenteritis skos:exactMatch NCIT:C34632 Gastroenteritis semapv:UnspecifiedMatching MONDO:0002269 gastroenteritis skos:exactMatch SCTID:25374005 semapv:UnspecifiedMatching MONDO:0002269 gastroenteritis skos:exactMatch UMLS:C0017160 semapv:UnspecifiedMatching MONDO:0002269 gastroenteritis skos:exactMatch mesh:D005759 semapv:UnspecifiedMatching MONDO:0002270 viral gastritis skos:exactMatch DOID:2327 viral gastritis semapv:UnspecifiedMatching MONDO:0002270 viral gastritis skos:exactMatch MEDGEN:107873 semapv:UnspecifiedMatching MONDO:0002270 viral gastritis skos:exactMatch NCIT:C27184 Viral Gastritis semapv:UnspecifiedMatching MONDO:0002270 viral gastritis skos:exactMatch SCTID:285344007 semapv:UnspecifiedMatching MONDO:0002270 viral gastritis skos:exactMatch UMLS:C0563238 semapv:UnspecifiedMatching MONDO:0002271 colon adenocarcinoma skos:exactMatch DOID:234 colon adenocarcinoma semapv:UnspecifiedMatching MONDO:0002271 colon adenocarcinoma skos:exactMatch EFO:1001949 semapv:UnspecifiedMatching MONDO:0002271 colon adenocarcinoma skos:exactMatch MEDGEN:137834 semapv:UnspecifiedMatching MONDO:0002271 colon adenocarcinoma skos:exactMatch NCIT:C4349 Colon Adenocarcinoma semapv:UnspecifiedMatching MONDO:0002271 colon adenocarcinoma skos:exactMatch UMLS:C0338106 semapv:UnspecifiedMatching MONDO:0002271 colon adenocarcinoma skos:exactMatch icd11.foundation:773139368 Adenocarcinoma of colon semapv:UnspecifiedMatching MONDO:0002272 polyclonal hypergammaglobulinemia skos:exactMatch DOID:2344 polyclonal hypergammaglobulinemia semapv:UnspecifiedMatching MONDO:0002272 polyclonal hypergammaglobulinemia skos:exactMatch ICD10CM:D89.0 Polyclonal hypergammaglobulinemia semapv:UnspecifiedMatching MONDO:0002272 polyclonal hypergammaglobulinemia skos:exactMatch MEDGEN:56337 semapv:UnspecifiedMatching MONDO:0002272 polyclonal hypergammaglobulinemia skos:exactMatch NCIT:C35885 Polyclonal Hypergammaglobulinemia semapv:UnspecifiedMatching MONDO:0002272 polyclonal hypergammaglobulinemia skos:exactMatch SCTID:190808009 semapv:UnspecifiedMatching MONDO:0002272 polyclonal hypergammaglobulinemia skos:exactMatch UMLS:C0154254 semapv:UnspecifiedMatching MONDO:0002273 plasma protein metabolism disease skos:exactMatch DOID:2345 plasma protein metabolism disease semapv:UnspecifiedMatching MONDO:0002273 plasma protein metabolism disease skos:exactMatch MEDGEN:840208 semapv:UnspecifiedMatching MONDO:0002273 plasma protein metabolism disease skos:exactMatch UMLS:C3875058 semapv:UnspecifiedMatching MONDO:0002274 monoclonal paraproteinemia disease skos:exactMatch DOID:2346 monoclonal paraproteinemia semapv:UnspecifiedMatching MONDO:0002274 monoclonal paraproteinemia disease skos:exactMatch MEDGEN:10088 semapv:UnspecifiedMatching MONDO:0002274 monoclonal paraproteinemia disease skos:exactMatch SCTID:267440005 semapv:UnspecifiedMatching MONDO:0002274 monoclonal paraproteinemia disease skos:exactMatch UMLS:C0026471 semapv:UnspecifiedMatching MONDO:0002275 generalized atherosclerosis skos:exactMatch DOID:2347 generalized atherosclerosis semapv:UnspecifiedMatching MONDO:0002275 generalized atherosclerosis skos:exactMatch ICD10CM:I70.91 Generalized atherosclerosis semapv:UnspecifiedMatching MONDO:0002275 generalized atherosclerosis skos:exactMatch MEDGEN:4866 semapv:UnspecifiedMatching MONDO:0002275 generalized atherosclerosis skos:exactMatch NCIT:C35767 Generalized Atherosclerosis semapv:UnspecifiedMatching MONDO:0002275 generalized atherosclerosis skos:exactMatch SCTID:39823006 semapv:UnspecifiedMatching MONDO:0002275 generalized atherosclerosis skos:exactMatch UMLS:C0017327 semapv:UnspecifiedMatching MONDO:0002277 arteriosclerosis disorder skos:exactMatch DOID:2348 arteriosclerotic cardiovascular disease semapv:UnspecifiedMatching MONDO:0002277 arteriosclerosis disorder skos:exactMatch DOID:2349 arteriosclerosis semapv:UnspecifiedMatching MONDO:0002277 arteriosclerosis disorder skos:exactMatch MEDGEN:2076 semapv:UnspecifiedMatching MONDO:0002277 arteriosclerosis disorder skos:exactMatch NCIT:C34398 Arteriosclerosis semapv:UnspecifiedMatching MONDO:0002277 arteriosclerosis disorder skos:exactMatch NCIT:C34403 Arteriosclerotic Cardiovascular Disease semapv:UnspecifiedMatching MONDO:0002277 arteriosclerosis disorder skos:exactMatch SCTID:72092001 semapv:UnspecifiedMatching MONDO:0002277 arteriosclerosis disorder skos:exactMatch UMLS:C0003850 semapv:UnspecifiedMatching MONDO:0002277 arteriosclerosis disorder skos:exactMatch mesh:D001161 semapv:UnspecifiedMatching MONDO:0002278 benign colon neoplasm skos:exactMatch DOID:235 colonic benign neoplasm semapv:UnspecifiedMatching MONDO:0002278 benign colon neoplasm skos:exactMatch MEDGEN:525 semapv:UnspecifiedMatching MONDO:0002278 benign colon neoplasm skos:exactMatch NCIT:C2894 Benign Colon Neoplasm semapv:UnspecifiedMatching MONDO:0002278 benign colon neoplasm skos:exactMatch SCTID:92065004 semapv:UnspecifiedMatching MONDO:0002278 benign colon neoplasm skos:exactMatch UMLS:C0004991 semapv:UnspecifiedMatching MONDO:0002278 benign colon neoplasm skos:exactMatch icd11.foundation:1870086213 Benign neoplasm of colon semapv:UnspecifiedMatching MONDO:0002279 iron metabolism disease skos:exactMatch DOID:2351 iron metabolism disease semapv:UnspecifiedMatching MONDO:0002279 iron metabolism disease skos:exactMatch ICD10CM:E83.1 Disorders of iron metabolism semapv:UnspecifiedMatching MONDO:0002279 iron metabolism disease skos:exactMatch MEDGEN:8438 semapv:UnspecifiedMatching MONDO:0002279 iron metabolism disease skos:exactMatch SCTID:30913008 semapv:UnspecifiedMatching MONDO:0002279 iron metabolism disease skos:exactMatch UMLS:C0012715 semapv:UnspecifiedMatching MONDO:0002279 iron metabolism disease skos:exactMatch mesh:D019189 semapv:UnspecifiedMatching MONDO:0002280 anemia skos:exactMatch DOID:2355 anemia semapv:UnspecifiedMatching MONDO:0002280 anemia skos:exactMatch MEDGEN:1526 semapv:UnspecifiedMatching MONDO:0002280 anemia skos:exactMatch NCIT:C2869 Anemia semapv:UnspecifiedMatching MONDO:0002280 anemia skos:exactMatch SCTID:271737000 semapv:UnspecifiedMatching MONDO:0002280 anemia skos:exactMatch UMLS:C0002871 semapv:UnspecifiedMatching MONDO:0002280 anemia skos:exactMatch mesh:D000740 semapv:UnspecifiedMatching MONDO:0002281 macrocytic anemia skos:exactMatch DOID:2361 macrocytic anemia semapv:UnspecifiedMatching MONDO:0002281 macrocytic anemia skos:exactMatch MEDGEN:1920 semapv:UnspecifiedMatching MONDO:0002281 macrocytic anemia skos:exactMatch NCIT:C34381 Macrocytic Anemia semapv:UnspecifiedMatching MONDO:0002281 macrocytic anemia skos:exactMatch SCTID:83414005 semapv:UnspecifiedMatching MONDO:0002281 macrocytic anemia skos:exactMatch UMLS:C0002886 semapv:UnspecifiedMatching MONDO:0002281 macrocytic anemia skos:exactMatch mesh:D000748 semapv:UnspecifiedMatching MONDO:0002282 West Nile fever skos:exactMatch DOID:2366 West Nile fever semapv:UnspecifiedMatching MONDO:0002282 West Nile fever skos:exactMatch ICD10CM:A92.3 West Nile virus infection semapv:UnspecifiedMatching MONDO:0002282 West Nile fever skos:exactMatch MEDGEN:22705 semapv:UnspecifiedMatching MONDO:0002282 West Nile fever skos:exactMatch SCTID:417093003 semapv:UnspecifiedMatching MONDO:0002282 West Nile fever skos:exactMatch UMLS:C0043124 semapv:UnspecifiedMatching MONDO:0002282 West Nile fever skos:exactMatch mesh:D014901 semapv:UnspecifiedMatching MONDO:0002283 neuroaxonal dystrophy skos:exactMatch DOID:2367 neuroaxonal dystrophy semapv:UnspecifiedMatching MONDO:0002283 neuroaxonal dystrophy skos:exactMatch MEDGEN:90924 semapv:UnspecifiedMatching MONDO:0002283 neuroaxonal dystrophy skos:exactMatch NCIT:C161542 Neuroaxonal Dystrophy semapv:UnspecifiedMatching MONDO:0002283 neuroaxonal dystrophy skos:exactMatch SCTID:230365004 semapv:UnspecifiedMatching MONDO:0002283 neuroaxonal dystrophy skos:exactMatch UMLS:C0338473 semapv:UnspecifiedMatching MONDO:0002283 neuroaxonal dystrophy skos:exactMatch mesh:D019150 semapv:UnspecifiedMatching MONDO:0002285 pupil disorder skos:exactMatch DOID:238 pupil disease semapv:UnspecifiedMatching MONDO:0002285 pupil disorder skos:exactMatch MEDGEN:11038 semapv:UnspecifiedMatching MONDO:0002285 pupil disorder skos:exactMatch SCTID:68633000 semapv:UnspecifiedMatching MONDO:0002285 pupil disorder skos:exactMatch UMLS:C0034124 semapv:UnspecifiedMatching MONDO:0002286 renal artery disease skos:exactMatch DOID:2388 renal artery disease semapv:UnspecifiedMatching MONDO:0002286 renal artery disease skos:exactMatch MEDGEN:768693 semapv:UnspecifiedMatching MONDO:0002286 renal artery disease skos:exactMatch NCIT:C101254 Renal Artery Disease semapv:UnspecifiedMatching MONDO:0002286 renal artery disease skos:exactMatch SCTID:16934004 semapv:UnspecifiedMatching MONDO:0002286 renal artery disease skos:exactMatch UMLS:C3640053 semapv:UnspecifiedMatching MONDO:0002287 glandular cystitis skos:exactMatch DOID:2392 glandular cystitis semapv:UnspecifiedMatching MONDO:0002287 glandular cystitis skos:exactMatch MEDGEN:82830 semapv:UnspecifiedMatching MONDO:0002287 glandular cystitis skos:exactMatch NCIT:C39860 Cystitis Glandularis semapv:UnspecifiedMatching MONDO:0002287 glandular cystitis skos:exactMatch SCTID:72815004 semapv:UnspecifiedMatching MONDO:0002287 glandular cystitis skos:exactMatch UMLS:C0268837 semapv:UnspecifiedMatching MONDO:0002289 iris disorder skos:exactMatch DOID:240 iris disease semapv:UnspecifiedMatching MONDO:0002289 iris disorder skos:exactMatch MEDGEN:9556 semapv:UnspecifiedMatching MONDO:0002289 iris disorder skos:exactMatch NCIT:C34737 Iris Disorder semapv:UnspecifiedMatching MONDO:0002289 iris disorder skos:exactMatch SCTID:85478004 semapv:UnspecifiedMatching MONDO:0002289 iris disorder skos:exactMatch UMLS:C0022078 semapv:UnspecifiedMatching MONDO:0002289 iris disorder skos:exactMatch mesh:D007499 semapv:UnspecifiedMatching MONDO:0002290 clitoris cancer skos:exactMatch DOID:2401 clitoris cancer semapv:UnspecifiedMatching MONDO:0002290 clitoris cancer skos:exactMatch ICD10CM:C51.2 Malignant neoplasm of clitoris semapv:UnspecifiedMatching MONDO:0002290 clitoris cancer skos:exactMatch MEDGEN:56312 semapv:UnspecifiedMatching MONDO:0002290 clitoris cancer skos:exactMatch NCIT:C3557 Malignant Clitoral Neoplasm semapv:UnspecifiedMatching MONDO:0002290 clitoris cancer skos:exactMatch SCTID:371979001 semapv:UnspecifiedMatching MONDO:0002290 clitoris cancer skos:exactMatch UMLS:C0153589 semapv:UnspecifiedMatching MONDO:0002291 cutaneous granular cell tumor skos:exactMatch DOID:2410 skin granular cell tumor semapv:UnspecifiedMatching MONDO:0002291 cutaneous granular cell tumor skos:exactMatch MEDGEN:138035 semapv:UnspecifiedMatching MONDO:0002291 cutaneous granular cell tumor skos:exactMatch NCIT:C5617 Skin Granular Cell Tumor semapv:UnspecifiedMatching MONDO:0002291 cutaneous granular cell tumor skos:exactMatch SCTID:254763007 semapv:UnspecifiedMatching MONDO:0002291 cutaneous granular cell tumor skos:exactMatch UMLS:C0346060 semapv:UnspecifiedMatching MONDO:0002293 cutaneous ganglioneuroma skos:exactMatch DOID:2425 cutaneous ganglioneuroma semapv:UnspecifiedMatching MONDO:0002293 cutaneous ganglioneuroma skos:exactMatch MEDGEN:91077 semapv:UnspecifiedMatching MONDO:0002293 cutaneous ganglioneuroma skos:exactMatch NCIT:C4481 Skin Ganglioneuroma semapv:UnspecifiedMatching MONDO:0002293 cutaneous ganglioneuroma skos:exactMatch SCTID:254766004 semapv:UnspecifiedMatching MONDO:0002293 cutaneous ganglioneuroma skos:exactMatch UMLS:C0346063 semapv:UnspecifiedMatching MONDO:0002295 skin glomus tumor skos:exactMatch DOID:2430 skin glomus tumor semapv:UnspecifiedMatching MONDO:0002295 skin glomus tumor skos:exactMatch MEDGEN:87537 semapv:UnspecifiedMatching MONDO:0002295 skin glomus tumor skos:exactMatch NCIT:C4491 Skin Glomus Tumor semapv:UnspecifiedMatching MONDO:0002295 skin glomus tumor skos:exactMatch SCTID:254795008 semapv:UnspecifiedMatching MONDO:0002295 skin glomus tumor skos:exactMatch UMLS:C0346083 semapv:UnspecifiedMatching MONDO:0002297 epidermal appendage tumor skos:exactMatch DOID:2433 epidermal appendage tumor semapv:UnspecifiedMatching MONDO:0002297 epidermal appendage tumor skos:exactMatch MEDGEN:87527 semapv:UnspecifiedMatching MONDO:0002297 epidermal appendage tumor skos:exactMatch NCIT:C4463 Skin Adnexal Neoplasm semapv:UnspecifiedMatching MONDO:0002297 epidermal appendage tumor skos:exactMatch SCTID:126489007 semapv:UnspecifiedMatching MONDO:0002297 epidermal appendage tumor skos:exactMatch UMLS:C0345988 semapv:UnspecifiedMatching MONDO:0002298 cutaneous glomangioma skos:exactMatch DOID:2435 skin glomangioma semapv:UnspecifiedMatching MONDO:0002298 cutaneous glomangioma skos:exactMatch MEDGEN:266155 semapv:UnspecifiedMatching MONDO:0002298 cutaneous glomangioma skos:exactMatch NCIT:C6750 Skin Glomuvenous Malformation semapv:UnspecifiedMatching MONDO:0002298 cutaneous glomangioma skos:exactMatch SCTID:403970001 semapv:UnspecifiedMatching MONDO:0002298 cutaneous glomangioma skos:exactMatch UMLS:C1275226 semapv:UnspecifiedMatching MONDO:0002298 cutaneous glomangioma skos:exactMatch icd11.foundation:1486488869 Glomangioma of skin semapv:UnspecifiedMatching MONDO:0002299 glomangioma skos:exactMatch DOID:2436 glomangioma semapv:UnspecifiedMatching MONDO:0002299 glomangioma skos:exactMatch MEDGEN:87239 semapv:UnspecifiedMatching MONDO:0002299 glomangioma skos:exactMatch NCIT:C4222 Glomuvenous Malformation semapv:UnspecifiedMatching MONDO:0002299 glomangioma skos:exactMatch UMLS:C0334421 semapv:UnspecifiedMatching MONDO:0002300 dermis tumor skos:exactMatch DOID:2438 dermis tumor semapv:UnspecifiedMatching MONDO:0002300 dermis tumor skos:exactMatch MEDGEN:91075 semapv:UnspecifiedMatching MONDO:0002300 dermis tumor skos:exactMatch NCIT:C4475 Dermal Neoplasm semapv:UnspecifiedMatching MONDO:0002300 dermis tumor skos:exactMatch UMLS:C0346041 semapv:UnspecifiedMatching MONDO:0002301 frontal sinus squamous cell carcinoma skos:exactMatch DOID:2441 frontal sinus squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0002301 frontal sinus squamous cell carcinoma skos:exactMatch MEDGEN:272639 semapv:UnspecifiedMatching MONDO:0002301 frontal sinus squamous cell carcinoma skos:exactMatch NCIT:C6067 Frontal Sinus Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0002301 frontal sinus squamous cell carcinoma skos:exactMatch SCTID:707356001 semapv:UnspecifiedMatching MONDO:0002301 frontal sinus squamous cell carcinoma skos:exactMatch UMLS:C1333646 semapv:UnspecifiedMatching MONDO:0002303 central retinal vein occlusion skos:exactMatch DOID:2450 central retinal vein occlusion semapv:UnspecifiedMatching MONDO:0002303 central retinal vein occlusion skos:exactMatch ICD10CM:H34.81 Central retinal vein occlusion semapv:UnspecifiedMatching MONDO:0002303 central retinal vein occlusion skos:exactMatch MEDGEN:509679 semapv:UnspecifiedMatching MONDO:0002303 central retinal vein occlusion skos:exactMatch NCIT:C118859 Central Retinal Vein Occlusion semapv:UnspecifiedMatching MONDO:0002303 central retinal vein occlusion skos:exactMatch Orphanet:411527 Central retinal vein occlusion semapv:UnspecifiedMatching MONDO:0002303 central retinal vein occlusion skos:exactMatch SCTID:68478007 semapv:UnspecifiedMatching MONDO:0002303 central retinal vein occlusion skos:exactMatch UMLS:C0154841 semapv:UnspecifiedMatching MONDO:0002303 central retinal vein occlusion skos:exactMatch icd11.foundation:1146548497 Central retinal vein occlusion semapv:UnspecifiedMatching MONDO:0002304 protein S deficiency skos:exactMatch DOID:2451 protein S deficiency semapv:UnspecifiedMatching MONDO:0002304 protein S deficiency skos:exactMatch MEDGEN:69229 semapv:UnspecifiedMatching MONDO:0002304 protein S deficiency skos:exactMatch NCIT:C99026 Protein S Deficiency Disease semapv:UnspecifiedMatching MONDO:0002304 protein S deficiency skos:exactMatch SCTID:1563006 semapv:UnspecifiedMatching MONDO:0002304 protein S deficiency skos:exactMatch UMLS:C0242666 semapv:UnspecifiedMatching MONDO:0002304 protein S deficiency skos:exactMatch mesh:D018455 semapv:UnspecifiedMatching MONDO:0002305 thrombophilia skos:exactMatch DOID:2452 thrombophilia semapv:UnspecifiedMatching MONDO:0002305 thrombophilia skos:exactMatch EFO:0009315 semapv:UnspecifiedMatching MONDO:0002305 thrombophilia skos:exactMatch MEDGEN:98306 semapv:UnspecifiedMatching MONDO:0002305 thrombophilia skos:exactMatch NCIT:C84479 Thrombophilia semapv:UnspecifiedMatching MONDO:0002305 thrombophilia skos:exactMatch SCTID:234467004 semapv:UnspecifiedMatching MONDO:0002305 thrombophilia skos:exactMatch UMLS:C0398623 semapv:UnspecifiedMatching MONDO:0002305 thrombophilia skos:exactMatch icd11.foundation:1733531851 Thrombophilia semapv:UnspecifiedMatching MONDO:0002305 thrombophilia skos:exactMatch mesh:D019851 semapv:UnspecifiedMatching MONDO:0002306 angular blepharoconjunctivitis skos:exactMatch DOID:2455 angular blepharoconjunctivitis semapv:UnspecifiedMatching MONDO:0002306 angular blepharoconjunctivitis skos:exactMatch ICD10CM:H10.52 Angular blepharoconjunctivitis semapv:UnspecifiedMatching MONDO:0002306 angular blepharoconjunctivitis skos:exactMatch MEDGEN:509810 semapv:UnspecifiedMatching MONDO:0002306 angular blepharoconjunctivitis skos:exactMatch SCTID:69397000 semapv:UnspecifiedMatching MONDO:0002306 angular blepharoconjunctivitis skos:exactMatch UMLS:C0155149 semapv:UnspecifiedMatching MONDO:0002306 angular blepharoconjunctivitis skos:exactMatch icd11.foundation:602571061 Angular blepharoconjunctivitis semapv:UnspecifiedMatching MONDO:0002307 blepharoconjunctivitis skos:exactMatch DOID:2456 blepharoconjunctivitis semapv:UnspecifiedMatching MONDO:0002307 blepharoconjunctivitis skos:exactMatch ICD10CM:H10.5 Blepharoconjunctivitis semapv:UnspecifiedMatching MONDO:0002307 blepharoconjunctivitis skos:exactMatch MEDGEN:2669 semapv:UnspecifiedMatching MONDO:0002307 blepharoconjunctivitis skos:exactMatch NCIT:C34430 Blepharoconjunctivitis semapv:UnspecifiedMatching MONDO:0002307 blepharoconjunctivitis skos:exactMatch SCTID:68659002 semapv:UnspecifiedMatching MONDO:0002307 blepharoconjunctivitis skos:exactMatch UMLS:C0005743 semapv:UnspecifiedMatching MONDO:0002307 blepharoconjunctivitis skos:exactMatch icd11.foundation:956823887 Blepharoconjunctivitis semapv:UnspecifiedMatching MONDO:0002308 giant papillary conjunctivitis skos:exactMatch DOID:2457 giant papillary conjunctivitis semapv:UnspecifiedMatching MONDO:0002308 giant papillary conjunctivitis skos:exactMatch MEDGEN:3210 semapv:UnspecifiedMatching MONDO:0002308 giant papillary conjunctivitis skos:exactMatch NCIT:C34507 Giant Papillary Conjunctivitis semapv:UnspecifiedMatching MONDO:0002308 giant papillary conjunctivitis skos:exactMatch SCTID:231857004 semapv:UnspecifiedMatching MONDO:0002308 giant papillary conjunctivitis skos:exactMatch UMLS:C0009769 semapv:UnspecifiedMatching MONDO:0002308 giant papillary conjunctivitis skos:exactMatch icd11.foundation:8559059 Giant papillary conjunctivitis semapv:UnspecifiedMatching MONDO:0002309 papillary conjunctivitis skos:exactMatch DOID:2458 papillary conjunctivitis semapv:UnspecifiedMatching MONDO:0002309 papillary conjunctivitis skos:exactMatch MEDGEN:167698 semapv:UnspecifiedMatching MONDO:0002309 papillary conjunctivitis skos:exactMatch NCIT:C35616 Papillary Conjunctivitis semapv:UnspecifiedMatching MONDO:0002309 papillary conjunctivitis skos:exactMatch SCTID:416878008 semapv:UnspecifiedMatching MONDO:0002309 papillary conjunctivitis skos:exactMatch UMLS:C0854165 semapv:UnspecifiedMatching MONDO:0002309 papillary conjunctivitis skos:exactMatch icd11.foundation:392841027 Papillary conjunctivitis semapv:UnspecifiedMatching MONDO:0002310 anterior dislocation of lens skos:exactMatch DOID:2460 anterior dislocation of lens semapv:UnspecifiedMatching MONDO:0002310 anterior dislocation of lens skos:exactMatch ICD10CM:H27.12 Anterior dislocation of lens semapv:UnspecifiedMatching MONDO:0002310 anterior dislocation of lens skos:exactMatch MEDGEN:509941 semapv:UnspecifiedMatching MONDO:0002310 anterior dislocation of lens skos:exactMatch SCTID:37283009 semapv:UnspecifiedMatching MONDO:0002310 anterior dislocation of lens skos:exactMatch UMLS:C0155372 semapv:UnspecifiedMatching MONDO:0002310 anterior dislocation of lens skos:exactMatch icd11.foundation:2072438249 Anterior dislocation of lens semapv:UnspecifiedMatching MONDO:0002311 retinal vascular disorder skos:exactMatch DOID:2462 retinal vascular disease semapv:UnspecifiedMatching MONDO:0002311 retinal vascular disorder skos:exactMatch MEDGEN:57824 semapv:UnspecifiedMatching MONDO:0002311 retinal vascular disorder skos:exactMatch NCIT:C35170 Retinal Vascular Disorder semapv:UnspecifiedMatching MONDO:0002311 retinal vascular disorder skos:exactMatch SCTID:57534004 semapv:UnspecifiedMatching MONDO:0002311 retinal vascular disorder skos:exactMatch UMLS:C0154833 semapv:UnspecifiedMatching MONDO:0002312 opportunistic mycosis skos:exactMatch DOID:2473 opportunistic mycosis semapv:UnspecifiedMatching MONDO:0002312 opportunistic mycosis skos:exactMatch MEDGEN:508004 semapv:UnspecifiedMatching MONDO:0002312 opportunistic mycosis skos:exactMatch SCTID:78999002 semapv:UnspecifiedMatching MONDO:0002312 opportunistic mycosis skos:exactMatch UMLS:C0029119 semapv:UnspecifiedMatching MONDO:0002313 vernal conjunctivitis skos:exactMatch DOID:2474 vernal conjunctivitis semapv:UnspecifiedMatching MONDO:0002313 vernal conjunctivitis skos:exactMatch ICD10CM:H10.44 Vernal conjunctivitis semapv:UnspecifiedMatching MONDO:0002313 vernal conjunctivitis skos:exactMatch MEDGEN:3211 semapv:UnspecifiedMatching MONDO:0002313 vernal conjunctivitis skos:exactMatch NCIT:C34508 Vernal Conjunctivitis semapv:UnspecifiedMatching MONDO:0002313 vernal conjunctivitis skos:exactMatch SCTID:318316003 semapv:UnspecifiedMatching MONDO:0002313 vernal conjunctivitis skos:exactMatch UMLS:C0009773 semapv:UnspecifiedMatching MONDO:0002313 vernal conjunctivitis skos:exactMatch icd11.foundation:1653249836 Vernal conjunctivitis semapv:UnspecifiedMatching MONDO:0002314 chronic conjunctivitis skos:exactMatch DOID:2475 chronic conjunctivitis semapv:UnspecifiedMatching MONDO:0002314 chronic conjunctivitis skos:exactMatch ICD10CM:H10.4 Chronic conjunctivitis semapv:UnspecifiedMatching MONDO:0002314 chronic conjunctivitis skos:exactMatch MEDGEN:102326 semapv:UnspecifiedMatching MONDO:0002314 chronic conjunctivitis skos:exactMatch NCIT:C35197 Chronic Conjunctivitis semapv:UnspecifiedMatching MONDO:0002314 chronic conjunctivitis skos:exactMatch SCTID:73762008 semapv:UnspecifiedMatching MONDO:0002314 chronic conjunctivitis skos:exactMatch UMLS:C0155145 semapv:UnspecifiedMatching MONDO:0002314 chronic conjunctivitis skos:exactMatch icd11.foundation:1548498139 Chronic conjunctivitis semapv:UnspecifiedMatching MONDO:0002316 motor peripheral neuropathy skos:exactMatch DOID:2477 motor peripheral neuropathy semapv:UnspecifiedMatching MONDO:0002316 motor peripheral neuropathy skos:exactMatch MEDGEN:82885 semapv:UnspecifiedMatching MONDO:0002316 motor peripheral neuropathy skos:exactMatch NCIT:C3500 Peripheral Motor Neuropathy semapv:UnspecifiedMatching MONDO:0002316 motor peripheral neuropathy skos:exactMatch SCTID:95663000 semapv:UnspecifiedMatching MONDO:0002316 motor peripheral neuropathy skos:exactMatch UMLS:C0271683 semapv:UnspecifiedMatching MONDO:0002317 central nervous system origin vertigo skos:exactMatch DOID:2479 central nervous system origin vertigo semapv:UnspecifiedMatching MONDO:0002317 central nervous system origin vertigo skos:exactMatch MEDGEN:56365 semapv:UnspecifiedMatching MONDO:0002317 central nervous system origin vertigo skos:exactMatch SCTID:38403006 semapv:UnspecifiedMatching MONDO:0002317 central nervous system origin vertigo skos:exactMatch UMLS:C0155503 semapv:UnspecifiedMatching MONDO:0002318 trachea leiomyoma skos:exactMatch DOID:248 trachea leiomyoma semapv:UnspecifiedMatching MONDO:0002318 trachea leiomyoma skos:exactMatch MEDGEN:237015 semapv:UnspecifiedMatching MONDO:0002318 trachea leiomyoma skos:exactMatch NCIT:C6049 Tracheal Leiomyoma semapv:UnspecifiedMatching MONDO:0002318 trachea leiomyoma skos:exactMatch SCTID:126703006 semapv:UnspecifiedMatching MONDO:0002318 trachea leiomyoma skos:exactMatch UMLS:C1336772 semapv:UnspecifiedMatching MONDO:0002319 phosphorus metabolism disease skos:exactMatch DOID:2485 phosphorus metabolism disease semapv:UnspecifiedMatching MONDO:0002319 phosphorus metabolism disease skos:exactMatch ICD10CM:E83.3 Disorders of phosphorus metabolism and phosphatases semapv:UnspecifiedMatching MONDO:0002319 phosphorus metabolism disease skos:exactMatch MEDGEN:19276 semapv:UnspecifiedMatching MONDO:0002319 phosphorus metabolism disease skos:exactMatch NCIT:C97095 Phosphorus Metabolic Disorder semapv:UnspecifiedMatching MONDO:0002319 phosphorus metabolism disease skos:exactMatch SCTID:87049008 semapv:UnspecifiedMatching MONDO:0002319 phosphorus metabolism disease skos:exactMatch UMLS:C0031707 semapv:UnspecifiedMatching MONDO:0002319 phosphorus metabolism disease skos:exactMatch mesh:D010760 semapv:UnspecifiedMatching MONDO:0002320 congenital nervous system disorder skos:exactMatch DOID:2490 congenital nervous system abnormality semapv:UnspecifiedMatching MONDO:0002320 congenital nervous system disorder skos:exactMatch MEDGEN:105425 semapv:UnspecifiedMatching MONDO:0002320 congenital nervous system disorder skos:exactMatch NCIT:C97172 Congenital Nervous System Disorder semapv:UnspecifiedMatching MONDO:0002320 congenital nervous system disorder skos:exactMatch UMLS:C0497552 semapv:UnspecifiedMatching MONDO:0002321 sensory peripheral neuropathy skos:exactMatch DOID:2491 sensory peripheral neuropathy semapv:UnspecifiedMatching MONDO:0002321 sensory peripheral neuropathy skos:exactMatch MEDGEN:101791 semapv:UnspecifiedMatching MONDO:0002321 sensory peripheral neuropathy skos:exactMatch NCIT:C3501 Peripheral Sensory Neuropathy semapv:UnspecifiedMatching MONDO:0002321 sensory peripheral neuropathy skos:exactMatch SCTID:95662005 semapv:UnspecifiedMatching MONDO:0002321 sensory peripheral neuropathy skos:exactMatch UMLS:C0151313 semapv:UnspecifiedMatching MONDO:0002322 angiodysplasia skos:exactMatch DOID:2494 angiodysplasia semapv:UnspecifiedMatching MONDO:0002322 angiodysplasia skos:exactMatch MEDGEN:88403 semapv:UnspecifiedMatching MONDO:0002322 angiodysplasia skos:exactMatch SCTID:90858003 semapv:UnspecifiedMatching MONDO:0002322 angiodysplasia skos:exactMatch UMLS:C0085411 semapv:UnspecifiedMatching MONDO:0002322 angiodysplasia skos:exactMatch mesh:D016888 semapv:UnspecifiedMatching MONDO:0002323 cherry hemangioma skos:exactMatch DOID:2495 senile angioma semapv:UnspecifiedMatching MONDO:0002323 cherry hemangioma skos:exactMatch MEDGEN:87470 semapv:UnspecifiedMatching MONDO:0002323 cherry hemangioma skos:exactMatch NCIT:C4390 Cherry Hemangioma semapv:UnspecifiedMatching MONDO:0002323 cherry hemangioma skos:exactMatch SCTID:5050001 semapv:UnspecifiedMatching MONDO:0002323 cherry hemangioma skos:exactMatch UMLS:C0343082 semapv:UnspecifiedMatching MONDO:0002323 cherry hemangioma skos:exactMatch icd11.foundation:160204218 Cherry angioma semapv:UnspecifiedMatching MONDO:0002324 obsolete enamel erosion skos:exactMatch DOID:2497 enamel erosion semapv:UnspecifiedMatching MONDO:0002325 tooth erosion, non-bacterial skos:exactMatch DOID:2498 tooth erosion semapv:UnspecifiedMatching MONDO:0002325 tooth erosion, non-bacterial skos:exactMatch MEDGEN:21584 semapv:UnspecifiedMatching MONDO:0002325 tooth erosion, non-bacterial skos:exactMatch SCTID:82212003 semapv:UnspecifiedMatching MONDO:0002325 tooth erosion, non-bacterial skos:exactMatch UMLS:C0040436 semapv:UnspecifiedMatching MONDO:0002325 tooth erosion, non-bacterial skos:exactMatch mesh:D014077 semapv:UnspecifiedMatching MONDO:0002326 alcohol-induced mental disorder skos:exactMatch DOID:251 alcohol-induced mental disorder semapv:UnspecifiedMatching MONDO:0002326 alcohol-induced mental disorder skos:exactMatch MEDGEN:1705315 semapv:UnspecifiedMatching MONDO:0002326 alcohol-induced mental disorder skos:exactMatch UMLS:C5200920 semapv:UnspecifiedMatching MONDO:0002327 intracranial cavernous angioma skos:exactMatch DOID:2516 intracranial cavernous angioma semapv:UnspecifiedMatching MONDO:0002327 intracranial cavernous angioma skos:exactMatch MEDGEN:232659 semapv:UnspecifiedMatching MONDO:0002327 intracranial cavernous angioma skos:exactMatch NCIT:C5432 Intracranial Cavernous Hemangioma semapv:UnspecifiedMatching MONDO:0002327 intracranial cavernous angioma skos:exactMatch SCTID:445513004 semapv:UnspecifiedMatching MONDO:0002327 intracranial cavernous angioma skos:exactMatch UMLS:C1334237 semapv:UnspecifiedMatching MONDO:0002328 intracranial hemangioma skos:exactMatch DOID:2517 intracranial structure hemangioma semapv:UnspecifiedMatching MONDO:0002328 intracranial hemangioma skos:exactMatch ICD10CM:D18.02 Hemangioma of intracranial structures semapv:UnspecifiedMatching MONDO:0002328 intracranial hemangioma skos:exactMatch MEDGEN:57582 semapv:UnspecifiedMatching MONDO:0002328 intracranial hemangioma skos:exactMatch NCIT:C3633 Intracranial Hemangioma semapv:UnspecifiedMatching MONDO:0002328 intracranial hemangioma skos:exactMatch SCTID:93468003 semapv:UnspecifiedMatching MONDO:0002328 intracranial hemangioma skos:exactMatch UMLS:C0154050 semapv:UnspecifiedMatching MONDO:0002329 testicular disorder skos:exactMatch DOID:2519 testicular disease semapv:UnspecifiedMatching MONDO:0002329 testicular disorder skos:exactMatch EFO:0009601 semapv:UnspecifiedMatching MONDO:0002329 testicular disorder skos:exactMatch MEDGEN:11743 semapv:UnspecifiedMatching MONDO:0002329 testicular disorder skos:exactMatch NCIT:C26890 Testicular Disorder semapv:UnspecifiedMatching MONDO:0002329 testicular disorder skos:exactMatch SCTID:64910008 semapv:UnspecifiedMatching MONDO:0002329 testicular disorder skos:exactMatch UMLS:C0039584 semapv:UnspecifiedMatching MONDO:0002329 testicular disorder skos:exactMatch mesh:D013733 semapv:UnspecifiedMatching MONDO:0002330 alcoholic psychosis skos:exactMatch DOID:252 alcoholic psychosis semapv:UnspecifiedMatching MONDO:0002330 alcoholic psychosis skos:exactMatch EFO:1001260 semapv:UnspecifiedMatching MONDO:0002330 alcoholic psychosis skos:exactMatch MEDGEN:11009 semapv:UnspecifiedMatching MONDO:0002330 alcoholic psychosis skos:exactMatch SCTID:42344001 semapv:UnspecifiedMatching MONDO:0002330 alcoholic psychosis skos:exactMatch UMLS:C0033936 semapv:UnspecifiedMatching MONDO:0002330 alcoholic psychosis skos:exactMatch mesh:D011604 semapv:UnspecifiedMatching MONDO:0002331 nephrosis skos:exactMatch DOID:2527 nephrosis semapv:UnspecifiedMatching MONDO:0002331 nephrosis skos:exactMatch MEDGEN:10223 semapv:UnspecifiedMatching MONDO:0002331 nephrosis skos:exactMatch UMLS:C0027720 semapv:UnspecifiedMatching MONDO:0002331 nephrosis skos:exactMatch mesh:D009401 semapv:UnspecifiedMatching MONDO:0002332 splenic disorder skos:exactMatch DOID:2529 splenic disease semapv:UnspecifiedMatching MONDO:0002332 splenic disorder skos:exactMatch EFO:0009002 semapv:UnspecifiedMatching MONDO:0002332 splenic disorder skos:exactMatch ICD10CM:D73 Diseases of spleen semapv:UnspecifiedMatching MONDO:0002332 splenic disorder skos:exactMatch MEDGEN:21291 semapv:UnspecifiedMatching MONDO:0002332 splenic disorder skos:exactMatch NCIT:C35823 Splenic Disorder semapv:UnspecifiedMatching MONDO:0002332 splenic disorder skos:exactMatch SCTID:51244008 semapv:UnspecifiedMatching MONDO:0002332 splenic disorder skos:exactMatch UMLS:C0037997 semapv:UnspecifiedMatching MONDO:0002332 splenic disorder skos:exactMatch mesh:D013158 semapv:UnspecifiedMatching MONDO:0002333 splenic abscess skos:exactMatch DOID:2530 splenic abscess semapv:UnspecifiedMatching MONDO:0002333 splenic abscess skos:exactMatch ICD10CM:D73.3 Abscess of spleen semapv:UnspecifiedMatching MONDO:0002333 splenic abscess skos:exactMatch MEDGEN:124428 semapv:UnspecifiedMatching MONDO:0002333 splenic abscess skos:exactMatch NCIT:C35347 Splenic Abscess semapv:UnspecifiedMatching MONDO:0002333 splenic abscess skos:exactMatch SCTID:82053000 semapv:UnspecifiedMatching MONDO:0002333 splenic abscess skos:exactMatch UMLS:C0272412 semapv:UnspecifiedMatching MONDO:0002334 hematopoietic and lymphoid system neoplasm skos:exactMatch DOID:2531 hematologic cancer semapv:UnspecifiedMatching MONDO:0002334 hematopoietic and lymphoid system neoplasm skos:exactMatch MEDGEN:268180 semapv:UnspecifiedMatching MONDO:0002334 hematopoietic and lymphoid system neoplasm skos:exactMatch NCIT:C35813 Hematopoietic and Lymphatic System Neoplasm semapv:UnspecifiedMatching MONDO:0002334 hematopoietic and lymphoid system neoplasm skos:exactMatch SCTID:129154003 semapv:UnspecifiedMatching MONDO:0002334 hematopoietic and lymphoid system neoplasm skos:exactMatch UMLS:C1512393 semapv:UnspecifiedMatching MONDO:0002334 hematopoietic and lymphoid system neoplasm skos:exactMatch mesh:D019337 semapv:UnspecifiedMatching MONDO:0002336 obsolete inflammatory and toxic neuropathy skos:exactMatch DOID:2537 inflammatory and toxic neuropathy semapv:UnspecifiedMatching MONDO:0002336 obsolete inflammatory and toxic neuropathy skos:exactMatch SCTID:267601009 semapv:UnspecifiedMatching MONDO:0002337 intra-abdominal hemangioma skos:exactMatch DOID:254 hemangioma of intra-abdominal structure semapv:UnspecifiedMatching MONDO:0002337 intra-abdominal hemangioma skos:exactMatch ICD10CM:D18.03 Hemangioma of intra-abdominal structures semapv:UnspecifiedMatching MONDO:0002337 intra-abdominal hemangioma skos:exactMatch MEDGEN:57583 semapv:UnspecifiedMatching MONDO:0002337 intra-abdominal hemangioma skos:exactMatch NCIT:C3635 Intra-Abdominal Hemangioma semapv:UnspecifiedMatching MONDO:0002337 intra-abdominal hemangioma skos:exactMatch SCTID:189197001 semapv:UnspecifiedMatching MONDO:0002337 intra-abdominal hemangioma skos:exactMatch UMLS:C0154052 semapv:UnspecifiedMatching MONDO:0002338 extratemporal epilepsy skos:exactMatch DOID:2544 extratemporal epilepsy semapv:UnspecifiedMatching MONDO:0002338 extratemporal epilepsy skos:exactMatch MEDGEN:78737 semapv:UnspecifiedMatching MONDO:0002338 extratemporal epilepsy skos:exactMatch NCIT:C7760 Extratemporal Epilepsy semapv:UnspecifiedMatching MONDO:0002338 extratemporal epilepsy skos:exactMatch SCTID:111498005 semapv:UnspecifiedMatching MONDO:0002338 extratemporal epilepsy skos:exactMatch UMLS:C0270849 semapv:UnspecifiedMatching MONDO:0002340 tactile epilepsy skos:exactMatch DOID:2550 tactile epilepsy semapv:UnspecifiedMatching MONDO:0002340 tactile epilepsy skos:exactMatch MEDGEN:97960 semapv:UnspecifiedMatching MONDO:0002340 tactile epilepsy skos:exactMatch NCIT:C4687 Tactile Epilepsy semapv:UnspecifiedMatching MONDO:0002340 tactile epilepsy skos:exactMatch SCTID:230449001 semapv:UnspecifiedMatching MONDO:0002340 tactile epilepsy skos:exactMatch UMLS:C0393724 semapv:UnspecifiedMatching MONDO:0002341 granulomatous angiitis skos:exactMatch DOID:2555 granulomatous angiitis semapv:UnspecifiedMatching MONDO:0002341 granulomatous angiitis skos:exactMatch MEDGEN:9088 semapv:UnspecifiedMatching MONDO:0002341 granulomatous angiitis skos:exactMatch NCIT:C34653 Granulomatous Arteritis semapv:UnspecifiedMatching MONDO:0002341 granulomatous angiitis skos:exactMatch UMLS:C0018202 semapv:UnspecifiedMatching MONDO:0002342 chondromalacia skos:exactMatch DOID:2557 chondromalacia semapv:UnspecifiedMatching MONDO:0002342 chondromalacia skos:exactMatch ICD10CM:M94.2 Chondromalacia semapv:UnspecifiedMatching MONDO:0002342 chondromalacia skos:exactMatch MEDGEN:39328 semapv:UnspecifiedMatching MONDO:0002342 chondromalacia skos:exactMatch SCTID:63198006 semapv:UnspecifiedMatching MONDO:0002342 chondromalacia skos:exactMatch UMLS:C0085700 semapv:UnspecifiedMatching MONDO:0002342 chondromalacia skos:exactMatch icd11.foundation:547071520 Chondromalacia semapv:UnspecifiedMatching MONDO:0002343 splenic hemangioma skos:exactMatch DOID:256 hemangioma of spleen semapv:UnspecifiedMatching MONDO:0002343 splenic hemangioma skos:exactMatch MEDGEN:151930 semapv:UnspecifiedMatching MONDO:0002343 splenic hemangioma skos:exactMatch NCIT:C8541 Splenic Hemangioma semapv:UnspecifiedMatching MONDO:0002343 splenic hemangioma skos:exactMatch SCTID:93472004 semapv:UnspecifiedMatching MONDO:0002343 splenic hemangioma skos:exactMatch UMLS:C0685201 semapv:UnspecifiedMatching MONDO:0002345 cervicitis skos:exactMatch DOID:2568 cervicitis semapv:UnspecifiedMatching MONDO:0002345 cervicitis skos:exactMatch ICD10CM:N72 Inflammatory disease of cervix uteri semapv:UnspecifiedMatching MONDO:0002345 cervicitis skos:exactMatch MEDGEN:3338 semapv:UnspecifiedMatching MONDO:0002345 cervicitis skos:exactMatch NCIT:C26716 Cervicitis semapv:UnspecifiedMatching MONDO:0002345 cervicitis skos:exactMatch SCTID:37610005 semapv:UnspecifiedMatching MONDO:0002345 cervicitis skos:exactMatch UMLS:C0007860 semapv:UnspecifiedMatching MONDO:0002345 cervicitis skos:exactMatch icd11.foundation:1433247301 Cervicitis semapv:UnspecifiedMatching MONDO:0002345 cervicitis skos:exactMatch mesh:D002575 semapv:UnspecifiedMatching MONDO:0002347 barbiturate dependence skos:exactMatch DOID:2575 barbiturate dependence semapv:UnspecifiedMatching MONDO:0002347 barbiturate dependence skos:exactMatch MEDGEN:572756 semapv:UnspecifiedMatching MONDO:0002347 barbiturate dependence skos:exactMatch SCTID:231472009 semapv:UnspecifiedMatching MONDO:0002347 barbiturate dependence skos:exactMatch UMLS:C0338767 semapv:UnspecifiedMatching MONDO:0002350 familial nephrotic syndrome skos:exactMatch DOID:2590 familial nephrotic syndrome semapv:UnspecifiedMatching MONDO:0002350 familial nephrotic syndrome skos:exactMatch MEDGEN:502251 semapv:UnspecifiedMatching MONDO:0002350 familial nephrotic syndrome skos:exactMatch NCIT:C35337 Congenital Nephrotic Syndrome semapv:UnspecifiedMatching MONDO:0002350 familial nephrotic syndrome skos:exactMatch OMIMPS:256300 Nephrotic syndrome semapv:UnspecifiedMatching MONDO:0002350 familial nephrotic syndrome skos:exactMatch SCTID:48796009 semapv:UnspecifiedMatching MONDO:0002350 familial nephrotic syndrome skos:exactMatch UMLS:C3501848 semapv:UnspecifiedMatching MONDO:0002350 familial nephrotic syndrome skos:exactMatch icd11.foundation:1524476844 Familial nephrotic syndrome semapv:UnspecifiedMatching MONDO:0002351 glottis cancer skos:exactMatch DOID:2595 glottis cancer semapv:UnspecifiedMatching MONDO:0002351 glottis cancer skos:exactMatch ICD10CM:C32.0 Malignant neoplasm of glottis semapv:UnspecifiedMatching MONDO:0002351 glottis cancer skos:exactMatch MEDGEN:57560 semapv:UnspecifiedMatching MONDO:0002351 glottis cancer skos:exactMatch NCIT:C3544 Malignant Glottis Neoplasm semapv:UnspecifiedMatching MONDO:0002351 glottis cancer skos:exactMatch SCTID:187841006 semapv:UnspecifiedMatching MONDO:0002351 glottis cancer skos:exactMatch UMLS:C0153483 semapv:UnspecifiedMatching MONDO:0002351 glottis cancer skos:exactMatch icd11.foundation:1564166225 Malignant neoplasms of glottis of larynx semapv:UnspecifiedMatching MONDO:0002352 larynx cancer skos:exactMatch DOID:2596 larynx cancer semapv:UnspecifiedMatching MONDO:0002352 larynx cancer skos:exactMatch EFO:1000354 semapv:UnspecifiedMatching MONDO:0002352 larynx cancer skos:exactMatch ICD10CM:C32 Malignant neoplasm of larynx semapv:UnspecifiedMatching MONDO:0002352 larynx cancer skos:exactMatch MEDGEN:2868 semapv:UnspecifiedMatching MONDO:0002352 larynx cancer skos:exactMatch NCIT:C7484 Malignant Laryngeal Neoplasm semapv:UnspecifiedMatching MONDO:0002352 larynx cancer skos:exactMatch SCTID:363429002 semapv:UnspecifiedMatching MONDO:0002352 larynx cancer skos:exactMatch UMLS:C0007107 semapv:UnspecifiedMatching MONDO:0002352 larynx cancer skos:exactMatch icd11.foundation:75194057 Malignant neoplasms of larynx semapv:UnspecifiedMatching MONDO:0002353 glottis neoplasm skos:exactMatch DOID:2597 glottis neoplasm semapv:UnspecifiedMatching MONDO:0002353 glottis neoplasm skos:exactMatch MEDGEN:138026 semapv:UnspecifiedMatching MONDO:0002353 glottis neoplasm skos:exactMatch NCIT:C4425 Glottis Neoplasm semapv:UnspecifiedMatching MONDO:0002353 glottis neoplasm skos:exactMatch SCTID:126693009 semapv:UnspecifiedMatching MONDO:0002353 glottis neoplasm skos:exactMatch UMLS:C0345713 semapv:UnspecifiedMatching MONDO:0002354 benign laryngeal neoplasm skos:exactMatch DOID:2598 laryngeal benign neoplasm semapv:UnspecifiedMatching MONDO:0002354 benign laryngeal neoplasm skos:exactMatch ICD10CM:D14.1 Benign neoplasm of larynx semapv:UnspecifiedMatching MONDO:0002354 benign laryngeal neoplasm skos:exactMatch MEDGEN:56325 semapv:UnspecifiedMatching MONDO:0002354 benign laryngeal neoplasm skos:exactMatch NCIT:C3601 Benign Laryngeal Neoplasm semapv:UnspecifiedMatching MONDO:0002354 benign laryngeal neoplasm skos:exactMatch SCTID:92175003 semapv:UnspecifiedMatching MONDO:0002354 benign laryngeal neoplasm skos:exactMatch UMLS:C0153952 semapv:UnspecifiedMatching MONDO:0002354 benign laryngeal neoplasm skos:exactMatch icd11.foundation:669823967 Benign neoplasm of larynx semapv:UnspecifiedMatching MONDO:0002355 glottis carcinoma skos:exactMatch DOID:2599 glottis carcinoma semapv:UnspecifiedMatching MONDO:0002355 glottis carcinoma skos:exactMatch MEDGEN:152820 semapv:UnspecifiedMatching MONDO:0002355 glottis carcinoma skos:exactMatch NCIT:C4923 Glottis Carcinoma semapv:UnspecifiedMatching MONDO:0002355 glottis carcinoma skos:exactMatch SCTID:372103002 semapv:UnspecifiedMatching MONDO:0002355 glottis carcinoma skos:exactMatch UMLS:C0740083 semapv:UnspecifiedMatching MONDO:0002356 pancreas disorder skos:exactMatch DOID:26 pancreas disease semapv:UnspecifiedMatching MONDO:0002356 pancreas disorder skos:exactMatch EFO:0009605 semapv:UnspecifiedMatching MONDO:0002356 pancreas disorder skos:exactMatch ICD10CM:K86.9 Disease of pancreas, unspecified semapv:UnspecifiedMatching MONDO:0002356 pancreas disorder skos:exactMatch MEDGEN:14583 semapv:UnspecifiedMatching MONDO:0002356 pancreas disorder skos:exactMatch NCIT:C26842 Pancreatic Disorder semapv:UnspecifiedMatching MONDO:0002356 pancreas disorder skos:exactMatch SCTID:3855007 semapv:UnspecifiedMatching MONDO:0002356 pancreas disorder skos:exactMatch UMLS:C0030286 semapv:UnspecifiedMatching MONDO:0002356 pancreas disorder skos:exactMatch icd11.foundation:1726554290 Diseases of pancreas semapv:UnspecifiedMatching MONDO:0002356 pancreas disorder skos:exactMatch mesh:D010182 semapv:UnspecifiedMatching MONDO:0002357 hepatic flexure cancer skos:exactMatch DOID:260 hepatic flexure cancer semapv:UnspecifiedMatching MONDO:0002357 hepatic flexure cancer skos:exactMatch ICD10CM:C18.3 Malignant neoplasm of hepatic flexure semapv:UnspecifiedMatching MONDO:0002357 hepatic flexure cancer skos:exactMatch MEDGEN:509289 semapv:UnspecifiedMatching MONDO:0002357 hepatic flexure cancer skos:exactMatch SCTID:363407001 semapv:UnspecifiedMatching MONDO:0002357 hepatic flexure cancer skos:exactMatch UMLS:C0153433 semapv:UnspecifiedMatching MONDO:0002357 hepatic flexure cancer skos:exactMatch icd11.foundation:1629525135 Malignant neoplasm of hepatic flexure semapv:UnspecifiedMatching MONDO:0002358 laryngeal carcinoma skos:exactMatch DOID:2600 laryngeal carcinoma semapv:UnspecifiedMatching MONDO:0002358 laryngeal carcinoma skos:exactMatch MEDGEN:108889 semapv:UnspecifiedMatching MONDO:0002358 laryngeal carcinoma skos:exactMatch NCIT:C4855 Laryngeal Carcinoma semapv:UnspecifiedMatching MONDO:0002358 laryngeal carcinoma skos:exactMatch SCTID:276975007 semapv:UnspecifiedMatching MONDO:0002358 laryngeal carcinoma skos:exactMatch UMLS:C0595989 semapv:UnspecifiedMatching MONDO:0002359 periosteal chondroma skos:exactMatch DOID:2601 juxtacortical chondroma semapv:UnspecifiedMatching MONDO:0002359 periosteal chondroma skos:exactMatch MEDGEN:87260 semapv:UnspecifiedMatching MONDO:0002359 periosteal chondroma skos:exactMatch NCIT:C4302 Periosteal Chondroma semapv:UnspecifiedMatching MONDO:0002359 periosteal chondroma skos:exactMatch UMLS:C0334548 semapv:UnspecifiedMatching MONDO:0002360 chondroma skos:exactMatch DOID:2602 chondroma semapv:UnspecifiedMatching MONDO:0002360 chondroma skos:exactMatch MEDGEN:181701 semapv:UnspecifiedMatching MONDO:0002360 chondroma skos:exactMatch NCIT:C53459 Chondroma semapv:UnspecifiedMatching MONDO:0002360 chondroma skos:exactMatch UMLS:C0936248 semapv:UnspecifiedMatching MONDO:0002360 chondroma skos:exactMatch mesh:D002812 semapv:UnspecifiedMatching MONDO:0002361 transverse colon cancer skos:exactMatch DOID:261 transverse colon cancer semapv:UnspecifiedMatching MONDO:0002361 transverse colon cancer skos:exactMatch ICD10CM:C18.4 Malignant neoplasm of transverse colon semapv:UnspecifiedMatching MONDO:0002361 transverse colon cancer skos:exactMatch MEDGEN:509290 semapv:UnspecifiedMatching MONDO:0002361 transverse colon cancer skos:exactMatch SCTID:363408006 semapv:UnspecifiedMatching MONDO:0002361 transverse colon cancer skos:exactMatch UMLS:C0153434 semapv:UnspecifiedMatching MONDO:0002361 transverse colon cancer skos:exactMatch icd11.foundation:315492123 Malignant neoplasm of transverse colon semapv:UnspecifiedMatching MONDO:0002362 serous surface papilloma skos:exactMatch DOID:2614 serous surface papilloma semapv:UnspecifiedMatching MONDO:0002362 serous surface papilloma skos:exactMatch MEDGEN:90770 semapv:UnspecifiedMatching MONDO:0002362 serous surface papilloma skos:exactMatch NCIT:C4181 Serous Surface Papilloma semapv:UnspecifiedMatching MONDO:0002362 serous surface papilloma skos:exactMatch UMLS:C0334360 semapv:UnspecifiedMatching MONDO:0002363 papilloma skos:exactMatch DOID:2615 papilloma semapv:UnspecifiedMatching MONDO:0002363 papilloma skos:exactMatch MEDGEN:10566 semapv:UnspecifiedMatching MONDO:0002363 papilloma skos:exactMatch NCIT:C7440 Papilloma semapv:UnspecifiedMatching MONDO:0002363 papilloma skos:exactMatch SCTID:711329002 semapv:UnspecifiedMatching MONDO:0002363 papilloma skos:exactMatch UMLS:C0030354 semapv:UnspecifiedMatching MONDO:0002363 papilloma skos:exactMatch mesh:D010212 semapv:UnspecifiedMatching MONDO:0002365 kidney hemangiopericytoma skos:exactMatch DOID:262 kidney hemangiopericytoma semapv:UnspecifiedMatching MONDO:0002365 kidney hemangiopericytoma skos:exactMatch MEDGEN:1847044 semapv:UnspecifiedMatching MONDO:0002365 kidney hemangiopericytoma skos:exactMatch NCIT:C4527 Kidney Hemangiopericytoma semapv:UnspecifiedMatching MONDO:0002365 kidney hemangiopericytoma skos:exactMatch SCTID:254923001 semapv:UnspecifiedMatching MONDO:0002365 kidney hemangiopericytoma skos:exactMatch UMLS:C5848097 semapv:UnspecifiedMatching MONDO:0002366 autonomic nervous system neoplasm skos:exactMatch DOID:2621 autonomic nervous system neoplasm semapv:UnspecifiedMatching MONDO:0002366 autonomic nervous system neoplasm skos:exactMatch MEDGEN:231389 semapv:UnspecifiedMatching MONDO:0002366 autonomic nervous system neoplasm skos:exactMatch NCIT:C5112 Autonomic Nervous System Neoplasm semapv:UnspecifiedMatching MONDO:0002366 autonomic nervous system neoplasm skos:exactMatch UMLS:C1332356 semapv:UnspecifiedMatching MONDO:0002367 kidney cancer skos:exactMatch DOID:263 kidney cancer semapv:UnspecifiedMatching MONDO:0002367 kidney cancer skos:exactMatch MEDGEN:149263 semapv:UnspecifiedMatching MONDO:0002367 kidney cancer skos:exactMatch NCIT:C7548 Malignant Kidney Neoplasm semapv:UnspecifiedMatching MONDO:0002367 kidney cancer skos:exactMatch SCTID:363518003 semapv:UnspecifiedMatching MONDO:0002367 kidney cancer skos:exactMatch UMLS:C0740457 semapv:UnspecifiedMatching MONDO:0002367 kidney cancer skos:exactMatch mesh:D007680 semapv:UnspecifiedMatching MONDO:0002368 papillary serous cystadenocarcinoma skos:exactMatch DOID:2632 papillary serous adenocarcinoma semapv:UnspecifiedMatching MONDO:0002368 papillary serous cystadenocarcinoma skos:exactMatch MEDGEN:825029 semapv:UnspecifiedMatching MONDO:0002368 papillary serous cystadenocarcinoma skos:exactMatch NCIT:C8377 Papillary Serous Cystadenocarcinoma semapv:UnspecifiedMatching MONDO:0002368 papillary serous cystadenocarcinoma skos:exactMatch SCTID:716649003 semapv:UnspecifiedMatching MONDO:0002368 papillary serous cystadenocarcinoma skos:exactMatch UMLS:C3839184 semapv:UnspecifiedMatching MONDO:0002369 cystadenoma skos:exactMatch DOID:2634 cystadenoma semapv:UnspecifiedMatching MONDO:0002369 cystadenoma skos:exactMatch MEDGEN:8221 semapv:UnspecifiedMatching MONDO:0002369 cystadenoma skos:exactMatch NCIT:C2972 Cystadenoma semapv:UnspecifiedMatching MONDO:0002369 cystadenoma skos:exactMatch UMLS:C0010633 semapv:UnspecifiedMatching MONDO:0002369 cystadenoma skos:exactMatch mesh:D003537 semapv:UnspecifiedMatching MONDO:0002370 ovarian Brenner tumor skos:exactMatch DOID:2636 ovarian Brenner tumor semapv:UnspecifiedMatching MONDO:0002370 ovarian Brenner tumor skos:exactMatch MEDGEN:1716777 semapv:UnspecifiedMatching MONDO:0002370 ovarian Brenner tumor skos:exactMatch NCIT:C3872 Ovarian Brenner Tumor semapv:UnspecifiedMatching MONDO:0002370 ovarian Brenner tumor skos:exactMatch SCTID:254859006 semapv:UnspecifiedMatching MONDO:0002370 ovarian Brenner tumor skos:exactMatch UMLS:C5234884 semapv:UnspecifiedMatching MONDO:0002371 breast pericanalicular fibroadenoma skos:exactMatch DOID:2639 breast pericanalicular fibroadenoma semapv:UnspecifiedMatching MONDO:0002371 breast pericanalicular fibroadenoma skos:exactMatch MEDGEN:90794 semapv:UnspecifiedMatching MONDO:0002371 breast pericanalicular fibroadenoma skos:exactMatch NCIT:C4272 Breast Pericanalicular Fibroadenoma semapv:UnspecifiedMatching MONDO:0002371 breast pericanalicular fibroadenoma skos:exactMatch UMLS:C0334497 semapv:UnspecifiedMatching MONDO:0002371 breast pericanalicular fibroadenoma skos:exactMatch icd11.foundation:687161475 Pericanalicular fibroadenoma of breast semapv:UnspecifiedMatching MONDO:0002372 ovarian monodermal and highly specialized teratoma skos:exactMatch DOID:2641 ovarian germ cell monodermal and highly specialized teratoma semapv:UnspecifiedMatching MONDO:0002372 ovarian monodermal and highly specialized teratoma skos:exactMatch MEDGEN:83601 semapv:UnspecifiedMatching MONDO:0002372 ovarian monodermal and highly specialized teratoma skos:exactMatch NCIT:C8113 Ovarian Monodermal and Highly Specialized Teratoma semapv:UnspecifiedMatching MONDO:0002372 ovarian monodermal and highly specialized teratoma skos:exactMatch UMLS:C0280134 semapv:UnspecifiedMatching MONDO:0002373 benign mesothelioma skos:exactMatch DOID:2645 benign mesothelioma semapv:UnspecifiedMatching MONDO:0002373 benign mesothelioma skos:exactMatch MEDGEN:578420 semapv:UnspecifiedMatching MONDO:0002373 benign mesothelioma skos:exactMatch SCTID:254825007 semapv:UnspecifiedMatching MONDO:0002373 benign mesothelioma skos:exactMatch UMLS:C0348424 semapv:UnspecifiedMatching MONDO:0002375 sebaceous adenoma skos:exactMatch DOID:2648 sebaceous adenoma semapv:UnspecifiedMatching MONDO:0002375 sebaceous adenoma skos:exactMatch MEDGEN:237152 semapv:UnspecifiedMatching MONDO:0002375 sebaceous adenoma skos:exactMatch NCIT:C4174 Sebaceous Adenoma semapv:UnspecifiedMatching MONDO:0002375 sebaceous adenoma skos:exactMatch UMLS:C1368816 semapv:UnspecifiedMatching MONDO:0002376 spleen angiosarcoma skos:exactMatch DOID:265 spleen angiosarcoma semapv:UnspecifiedMatching MONDO:0002376 spleen angiosarcoma skos:exactMatch MEDGEN:83426 semapv:UnspecifiedMatching MONDO:0002376 spleen angiosarcoma skos:exactMatch NCIT:C4564 Splenic Angiosarcoma semapv:UnspecifiedMatching MONDO:0002376 spleen angiosarcoma skos:exactMatch SCTID:187821001 semapv:UnspecifiedMatching MONDO:0002376 spleen angiosarcoma skos:exactMatch UMLS:C0346424 semapv:UnspecifiedMatching MONDO:0002377 breast intracanalicular fibroadenoma skos:exactMatch DOID:2656 breast intracanalicular fibroadenoma semapv:UnspecifiedMatching MONDO:0002377 breast intracanalicular fibroadenoma skos:exactMatch MEDGEN:137772 semapv:UnspecifiedMatching MONDO:0002377 breast intracanalicular fibroadenoma skos:exactMatch NCIT:C4271 Breast Intracanalicular Fibroadenoma semapv:UnspecifiedMatching MONDO:0002377 breast intracanalicular fibroadenoma skos:exactMatch UMLS:C0334496 semapv:UnspecifiedMatching MONDO:0002378 dermoid cyst skos:exactMatch DOID:2658 dermoid cyst semapv:UnspecifiedMatching MONDO:0002378 dermoid cyst skos:exactMatch MEDGEN:41504 semapv:UnspecifiedMatching MONDO:0002378 dermoid cyst skos:exactMatch NCIT:C9011 Dermoid Cyst semapv:UnspecifiedMatching MONDO:0002378 dermoid cyst skos:exactMatch SCTID:441459009 semapv:UnspecifiedMatching MONDO:0002378 dermoid cyst skos:exactMatch UMLS:C0011649 semapv:UnspecifiedMatching MONDO:0002378 dermoid cyst skos:exactMatch icd11.foundation:1622534741 Dermoid cyst semapv:UnspecifiedMatching MONDO:0002378 dermoid cyst skos:exactMatch mesh:D003884 semapv:UnspecifiedMatching MONDO:0002379 cystic teratoma skos:exactMatch DOID:2660 cystic teratoma semapv:UnspecifiedMatching MONDO:0002379 cystic teratoma skos:exactMatch MEDGEN:234578 semapv:UnspecifiedMatching MONDO:0002379 cystic teratoma skos:exactMatch NCIT:C9014 Cystic Teratoma semapv:UnspecifiedMatching MONDO:0002379 cystic teratoma skos:exactMatch UMLS:C1368903 semapv:UnspecifiedMatching MONDO:0002379 cystic teratoma skos:exactMatch icd11.foundation:882254343 Cystic teratoma semapv:UnspecifiedMatching MONDO:0002380 myoepithelial tumor skos:exactMatch DOID:2661 myoepithelioma semapv:UnspecifiedMatching MONDO:0002380 myoepithelial tumor skos:exactMatch MEDGEN:10235 semapv:UnspecifiedMatching MONDO:0002380 myoepithelial tumor skos:exactMatch NCIT:C40392 Myoepithelial Tumor semapv:UnspecifiedMatching MONDO:0002380 myoepithelial tumor skos:exactMatch UMLS:C0027070 semapv:UnspecifiedMatching MONDO:0002380 myoepithelial tumor skos:exactMatch mesh:D009208 semapv:UnspecifiedMatching MONDO:0002381 sweat gland neoplasm skos:exactMatch DOID:2664 sweat gland benign neoplasm semapv:UnspecifiedMatching MONDO:0002381 sweat gland neoplasm skos:exactMatch EFO:1001204 semapv:UnspecifiedMatching MONDO:0002381 sweat gland neoplasm skos:exactMatch MEDGEN:21039 semapv:UnspecifiedMatching MONDO:0002381 sweat gland neoplasm skos:exactMatch NCIT:C3398 Sweat Gland Neoplasm semapv:UnspecifiedMatching MONDO:0002381 sweat gland neoplasm skos:exactMatch SCTID:126490003 semapv:UnspecifiedMatching MONDO:0002381 sweat gland neoplasm skos:exactMatch UMLS:C0038987 semapv:UnspecifiedMatching MONDO:0002381 sweat gland neoplasm skos:exactMatch mesh:D013544 semapv:UnspecifiedMatching MONDO:0002382 benign mesenchymoma skos:exactMatch MEDGEN:87251 semapv:UnspecifiedMatching MONDO:0002382 benign mesenchymoma skos:exactMatch NCIT:C4267 Benign Mesenchymoma semapv:UnspecifiedMatching MONDO:0002382 benign mesenchymoma skos:exactMatch UMLS:C0334491 semapv:UnspecifiedMatching MONDO:0002383 Pacinian tumor skos:exactMatch DOID:2669 Pacinian tumor semapv:UnspecifiedMatching MONDO:0002383 Pacinian tumor skos:exactMatch MEDGEN:87273 semapv:UnspecifiedMatching MONDO:0002383 Pacinian tumor skos:exactMatch NCIT:C4328 Pacinian Neurofibroma semapv:UnspecifiedMatching MONDO:0002383 Pacinian tumor skos:exactMatch SCTID:404033003 semapv:UnspecifiedMatching MONDO:0002383 Pacinian tumor skos:exactMatch UMLS:C0334599 semapv:UnspecifiedMatching MONDO:0002385 benign cystic nephroma skos:exactMatch DOID:2673 adult cystic nephroma semapv:UnspecifiedMatching MONDO:0002385 benign cystic nephroma skos:exactMatch MEDGEN:220422 semapv:UnspecifiedMatching MONDO:0002385 benign cystic nephroma skos:exactMatch NCIT:C7504 Adult Cystic Nephroma semapv:UnspecifiedMatching MONDO:0002385 benign cystic nephroma skos:exactMatch UMLS:C1266138 semapv:UnspecifiedMatching MONDO:0002386 mixed epithelial stromal tumor of the kidney skos:exactMatch MEDGEN:220870 semapv:UnspecifiedMatching MONDO:0002386 mixed epithelial stromal tumor of the kidney skos:exactMatch NCIT:C37263 Kidney Mixed Epithelial and Stromal Tumor semapv:UnspecifiedMatching MONDO:0002386 mixed epithelial stromal tumor of the kidney skos:exactMatch UMLS:C1272677 semapv:UnspecifiedMatching MONDO:0002387 liver angiosarcoma skos:exactMatch DOID:268 liver angiosarcoma semapv:UnspecifiedMatching MONDO:0002387 liver angiosarcoma skos:exactMatch ICD10CM:C22.3 Angiosarcoma of liver semapv:UnspecifiedMatching MONDO:0002387 liver angiosarcoma skos:exactMatch MEDGEN:138027 semapv:UnspecifiedMatching MONDO:0002387 liver angiosarcoma skos:exactMatch NCIT:C4438 Liver Angiosarcoma semapv:UnspecifiedMatching MONDO:0002387 liver angiosarcoma skos:exactMatch SCTID:109844006 semapv:UnspecifiedMatching MONDO:0002387 liver angiosarcoma skos:exactMatch UMLS:C0345907 semapv:UnspecifiedMatching MONDO:0002387 liver angiosarcoma skos:exactMatch icd11.foundation:965491615 Angiosarcoma of liver semapv:UnspecifiedMatching MONDO:0002388 intracystic papillary adenoma skos:exactMatch DOID:2682 intracystic papillary adenoma semapv:UnspecifiedMatching MONDO:0002388 intracystic papillary adenoma skos:exactMatch MEDGEN:87229 semapv:UnspecifiedMatching MONDO:0002388 intracystic papillary adenoma skos:exactMatch UMLS:C0334374 semapv:UnspecifiedMatching MONDO:0002395 renal adenoma skos:exactMatch DOID:2697 renal adenoma semapv:UnspecifiedMatching MONDO:0002395 renal adenoma skos:exactMatch MEDGEN:137794 semapv:UnspecifiedMatching MONDO:0002395 renal adenoma skos:exactMatch NCIT:C8383 Kidney Adenoma semapv:UnspecifiedMatching MONDO:0002395 renal adenoma skos:exactMatch UMLS:C0334684 semapv:UnspecifiedMatching MONDO:0002396 nephrogenic adenofibroma skos:exactMatch DOID:2698 nephrogenic adenofibroma semapv:UnspecifiedMatching MONDO:0002396 nephrogenic adenofibroma skos:exactMatch MEDGEN:220424 semapv:UnspecifiedMatching MONDO:0002396 nephrogenic adenofibroma skos:exactMatch NCIT:C39812 Metanephric Adenofibroma semapv:UnspecifiedMatching MONDO:0002396 nephrogenic adenofibroma skos:exactMatch UMLS:C1266141 semapv:UnspecifiedMatching MONDO:0002397 liver sarcoma skos:exactMatch DOID:270 liver sarcoma semapv:UnspecifiedMatching MONDO:0002397 liver sarcoma skos:exactMatch MEDGEN:87522 semapv:UnspecifiedMatching MONDO:0002397 liver sarcoma skos:exactMatch NCIT:C4437 Liver Sarcoma semapv:UnspecifiedMatching MONDO:0002397 liver sarcoma skos:exactMatch SCTID:254601002 semapv:UnspecifiedMatching MONDO:0002397 liver sarcoma skos:exactMatch UMLS:C0345906 semapv:UnspecifiedMatching MONDO:0002398 mucinous adenofibroma skos:exactMatch DOID:2700 mucinous adenofibroma semapv:UnspecifiedMatching MONDO:0002398 mucinous adenofibroma skos:exactMatch MEDGEN:83158 semapv:UnspecifiedMatching MONDO:0002398 mucinous adenofibroma skos:exactMatch NCIT:C8978 Mucinous Adenofibroma semapv:UnspecifiedMatching MONDO:0002398 mucinous adenofibroma skos:exactMatch UMLS:C0334499 semapv:UnspecifiedMatching MONDO:0002399 tenosynovial giant cell tumor, localized type skos:exactMatch DOID:2701 nodular tenosynovitis semapv:UnspecifiedMatching MONDO:0002399 tenosynovial giant cell tumor, localized type skos:exactMatch MEDGEN:154413 semapv:UnspecifiedMatching MONDO:0002399 tenosynovial giant cell tumor, localized type skos:exactMatch NCIT:C6532 Tenosynovial Giant Cell Tumor, Localized Type semapv:UnspecifiedMatching MONDO:0002399 tenosynovial giant cell tumor, localized type skos:exactMatch SCTID:95413004 semapv:UnspecifiedMatching MONDO:0002399 tenosynovial giant cell tumor, localized type skos:exactMatch UMLS:C0588125 semapv:UnspecifiedMatching MONDO:0002400 synovitis skos:exactMatch DOID:2703 synovitis semapv:UnspecifiedMatching MONDO:0002400 synovitis skos:exactMatch EFO:0008997 semapv:UnspecifiedMatching MONDO:0002400 synovitis skos:exactMatch MEDGEN:21051 semapv:UnspecifiedMatching MONDO:0002400 synovitis skos:exactMatch NCIT:C50766 Synovitis semapv:UnspecifiedMatching MONDO:0002400 synovitis skos:exactMatch SCTID:416209007 semapv:UnspecifiedMatching MONDO:0002400 synovitis skos:exactMatch UMLS:C0039103 semapv:UnspecifiedMatching MONDO:0002400 synovitis skos:exactMatch mesh:D013585 semapv:UnspecifiedMatching MONDO:0002401 malignant tenosynovial giant cell tumor skos:exactMatch DOID:2704 malignant giant cell tumor of the tendon sheath semapv:UnspecifiedMatching MONDO:0002401 malignant tenosynovial giant cell tumor skos:exactMatch MEDGEN:226849 semapv:UnspecifiedMatching MONDO:0002401 malignant tenosynovial giant cell tumor skos:exactMatch NCIT:C6535 Malignant Tenosynovial Giant Cell Tumor semapv:UnspecifiedMatching MONDO:0002401 malignant tenosynovial giant cell tumor skos:exactMatch UMLS:C1266168 semapv:UnspecifiedMatching MONDO:0002402 malignant giant cell tumor skos:exactMatch DOID:2705 malignant giant cell tumor semapv:UnspecifiedMatching MONDO:0002402 malignant giant cell tumor skos:exactMatch MEDGEN:90745 semapv:UnspecifiedMatching MONDO:0002402 malignant giant cell tumor skos:exactMatch NCIT:C4090 Malignant Giant Cell Neoplasm semapv:UnspecifiedMatching MONDO:0002402 malignant giant cell tumor skos:exactMatch UMLS:C0334229 semapv:UnspecifiedMatching MONDO:0002403 synovium cancer skos:exactMatch DOID:2706 synovium cancer semapv:UnspecifiedMatching MONDO:0002403 synovium cancer skos:exactMatch MEDGEN:277340 semapv:UnspecifiedMatching MONDO:0002403 synovium cancer skos:exactMatch NCIT:C6531 Malignant Synovial Neoplasm semapv:UnspecifiedMatching MONDO:0002403 synovium cancer skos:exactMatch UMLS:C1334624 semapv:UnspecifiedMatching MONDO:0002404 liver hemangioma skos:exactMatch DOID:271 hemangioma of liver semapv:UnspecifiedMatching MONDO:0002404 liver hemangioma skos:exactMatch MEDGEN:66765 semapv:UnspecifiedMatching MONDO:0002404 liver hemangioma skos:exactMatch NCIT:C3869 Liver Hemangioma semapv:UnspecifiedMatching MONDO:0002404 liver hemangioma skos:exactMatch SCTID:93469006 semapv:UnspecifiedMatching MONDO:0002404 liver hemangioma skos:exactMatch UMLS:C0238246 semapv:UnspecifiedMatching MONDO:0002405 hepatic vascular disorder skos:exactMatch DOID:272 hepatic vascular disease semapv:UnspecifiedMatching MONDO:0002405 hepatic vascular disorder skos:exactMatch MEDGEN:140779 semapv:UnspecifiedMatching MONDO:0002405 hepatic vascular disorder skos:exactMatch NCIT:C35442 Liver Vascular Disorder semapv:UnspecifiedMatching MONDO:0002405 hepatic vascular disorder skos:exactMatch SCTID:235878005 semapv:UnspecifiedMatching MONDO:0002405 hepatic vascular disorder skos:exactMatch UMLS:C0400923 semapv:UnspecifiedMatching MONDO:0002406 dermatitis skos:exactMatch DOID:2723 dermatitis semapv:UnspecifiedMatching MONDO:0002406 dermatitis skos:exactMatch MEDGEN:849741 semapv:UnspecifiedMatching MONDO:0002406 dermatitis skos:exactMatch NCIT:C2983 Dermatitis semapv:UnspecifiedMatching MONDO:0002406 dermatitis skos:exactMatch SCTID:43116000 semapv:UnspecifiedMatching MONDO:0002406 dermatitis skos:exactMatch UMLS:C3875321 semapv:UnspecifiedMatching MONDO:0002406 dermatitis skos:exactMatch mesh:D003872 semapv:UnspecifiedMatching MONDO:0002407 capillary hemangioma skos:exactMatch DOID:2725 capillary hemangioma semapv:UnspecifiedMatching MONDO:0002407 capillary hemangioma skos:exactMatch MEDGEN:64643 semapv:UnspecifiedMatching MONDO:0002407 capillary hemangioma skos:exactMatch NCIT:C7457 Capillary Hemangioma semapv:UnspecifiedMatching MONDO:0002407 capillary hemangioma skos:exactMatch SCTID:56975005 semapv:UnspecifiedMatching MONDO:0002407 capillary hemangioma skos:exactMatch UMLS:C0206733 semapv:UnspecifiedMatching MONDO:0002407 capillary hemangioma skos:exactMatch mesh:D018324 semapv:UnspecifiedMatching MONDO:0002408 hereditary hyperbilirubinemia skos:exactMatch DOID:2741 bilirubin metabolic disorder semapv:UnspecifiedMatching MONDO:0002408 hereditary hyperbilirubinemia skos:exactMatch MEDGEN:6963 semapv:UnspecifiedMatching MONDO:0002408 hereditary hyperbilirubinemia skos:exactMatch NCIT:C84761 Hereditary Hyperbilirubinemia semapv:UnspecifiedMatching MONDO:0002408 hereditary hyperbilirubinemia skos:exactMatch OMIMPS:237450 Hyperbilirubinemia semapv:UnspecifiedMatching MONDO:0002408 hereditary hyperbilirubinemia skos:exactMatch UMLS:C0020435 semapv:UnspecifiedMatching MONDO:0002408 hereditary hyperbilirubinemia skos:exactMatch mesh:D006933 semapv:UnspecifiedMatching MONDO:0002409 auditory system disorder skos:exactMatch DOID:2742 auditory system disease semapv:UnspecifiedMatching MONDO:0002409 auditory system disorder skos:exactMatch EFO:1001455 semapv:UnspecifiedMatching MONDO:0002409 auditory system disorder skos:exactMatch ICD10CM:H60-H95 Diseases of the ear and mastoid process (H60-H95) semapv:UnspecifiedMatching MONDO:0002409 auditory system disorder skos:exactMatch MEDGEN:1846617 semapv:UnspecifiedMatching MONDO:0002409 auditory system disorder skos:exactMatch SCTID:362966006 semapv:UnspecifiedMatching MONDO:0002409 auditory system disorder skos:exactMatch UMLS:C5848260 semapv:UnspecifiedMatching MONDO:0002410 pyeloureteritis cystica skos:exactMatch DOID:2743 pyeloureteritis cystica semapv:UnspecifiedMatching MONDO:0002410 pyeloureteritis cystica skos:exactMatch ICD10CM:N28.85 Pyeloureteritis cystica semapv:UnspecifiedMatching MONDO:0002410 pyeloureteritis cystica skos:exactMatch MEDGEN:510216 semapv:UnspecifiedMatching MONDO:0002410 pyeloureteritis cystica skos:exactMatch SCTID:37779008 semapv:UnspecifiedMatching MONDO:0002410 pyeloureteritis cystica skos:exactMatch UMLS:C0156254 semapv:UnspecifiedMatching MONDO:0002411 narcissistic personality disorder skos:exactMatch DOID:2745 narcissistic personality disorder semapv:UnspecifiedMatching MONDO:0002411 narcissistic personality disorder skos:exactMatch ICD10CM:F60.81 Narcissistic personality disorder semapv:UnspecifiedMatching MONDO:0002411 narcissistic personality disorder skos:exactMatch MEDGEN:10262 semapv:UnspecifiedMatching MONDO:0002411 narcissistic personality disorder skos:exactMatch NCIT:C92635 Narcissistic Personality Disorder semapv:UnspecifiedMatching MONDO:0002411 narcissistic personality disorder skos:exactMatch SCTID:80711002 semapv:UnspecifiedMatching MONDO:0002411 narcissistic personality disorder skos:exactMatch UMLS:C0027402 semapv:UnspecifiedMatching MONDO:0002411 narcissistic personality disorder skos:exactMatch icd11.foundation:641223668 Narcissistic personality disorder semapv:UnspecifiedMatching MONDO:0002412 disorder of glycogen metabolism skos:exactMatch DOID:0050728 glycogen metabolism disorder semapv:UnspecifiedMatching MONDO:0002412 disorder of glycogen metabolism skos:exactMatch DOID:2747 glycogen storage disease semapv:UnspecifiedMatching MONDO:0002412 disorder of glycogen metabolism skos:exactMatch ICD10CM:E74.0 Glycogen storage disease semapv:UnspecifiedMatching MONDO:0002412 disorder of glycogen metabolism skos:exactMatch MEDGEN:6639 semapv:UnspecifiedMatching MONDO:0002412 disorder of glycogen metabolism skos:exactMatch NCIT:C61272 Glycogen Storage Disease semapv:UnspecifiedMatching MONDO:0002412 disorder of glycogen metabolism skos:exactMatch OMIMPS:232200 Glycogen storage disease semapv:UnspecifiedMatching MONDO:0002412 disorder of glycogen metabolism skos:exactMatch Orphanet:79201 Glycogen storage disease semapv:UnspecifiedMatching MONDO:0002412 disorder of glycogen metabolism skos:exactMatch SCTID:29633007 semapv:UnspecifiedMatching MONDO:0002412 disorder of glycogen metabolism skos:exactMatch UMLS:C0017919 semapv:UnspecifiedMatching MONDO:0002412 disorder of glycogen metabolism skos:exactMatch icd11.foundation:1187107383 Glycogen storage disease semapv:UnspecifiedMatching MONDO:0002412 disorder of glycogen metabolism skos:exactMatch mesh:D006008 semapv:UnspecifiedMatching MONDO:0002413 glycogen storage disease I skos:exactMatch DOID:0081329 glycogen storage disease I semapv:UnspecifiedMatching MONDO:0002413 glycogen storage disease I skos:exactMatch ICD10CM:E74.01 von Gierke disease semapv:UnspecifiedMatching MONDO:0002413 glycogen storage disease I skos:exactMatch MEDGEN:6640 semapv:UnspecifiedMatching MONDO:0002413 glycogen storage disease I skos:exactMatch NCIT:C84733 Glycogen Storage Disease Type I semapv:UnspecifiedMatching MONDO:0002413 glycogen storage disease I skos:exactMatch Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency semapv:UnspecifiedMatching MONDO:0002413 glycogen storage disease I skos:exactMatch SCTID:7265005 semapv:UnspecifiedMatching MONDO:0002413 glycogen storage disease I skos:exactMatch UMLS:C0017920 semapv:UnspecifiedMatching MONDO:0002413 glycogen storage disease I skos:exactMatch mesh:D005953 semapv:UnspecifiedMatching MONDO:0002414 gastric hemangioma skos:exactMatch DOID:275 gastric hemangioma semapv:UnspecifiedMatching MONDO:0002414 gastric hemangioma skos:exactMatch MEDGEN:234297 semapv:UnspecifiedMatching MONDO:0002414 gastric hemangioma skos:exactMatch NCIT:C5481 Gastric Hemangioma semapv:UnspecifiedMatching MONDO:0002414 gastric hemangioma skos:exactMatch UMLS:C1333770 semapv:UnspecifiedMatching MONDO:0002415 bone carcinoma skos:exactMatch DOID:2762 bone carcinoma semapv:UnspecifiedMatching MONDO:0002416 ethmoid sinus squamous cell carcinoma skos:exactMatch DOID:2763 ethmoid sinus squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0002416 ethmoid sinus squamous cell carcinoma skos:exactMatch MEDGEN:272596 semapv:UnspecifiedMatching MONDO:0002416 ethmoid sinus squamous cell carcinoma skos:exactMatch NCIT:C6065 Ethmoid Sinus Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0002416 ethmoid sinus squamous cell carcinoma skos:exactMatch SCTID:707359008 semapv:UnspecifiedMatching MONDO:0002416 ethmoid sinus squamous cell carcinoma skos:exactMatch UMLS:C1333477 semapv:UnspecifiedMatching MONDO:0002418 ethmoid sinus adenocarcinoma skos:exactMatch DOID:2766 ethmoid sinus adenocarcinoma semapv:UnspecifiedMatching MONDO:0002418 ethmoid sinus adenocarcinoma skos:exactMatch MEDGEN:272595 semapv:UnspecifiedMatching MONDO:0002418 ethmoid sinus adenocarcinoma skos:exactMatch NCIT:C6237 Ethmoid Sinus Adenocarcinoma semapv:UnspecifiedMatching MONDO:0002418 ethmoid sinus adenocarcinoma skos:exactMatch UMLS:C1333472 semapv:UnspecifiedMatching MONDO:0002419 transient tic disorder skos:exactMatch DOID:2768 transient tic disorder semapv:UnspecifiedMatching MONDO:0002419 transient tic disorder skos:exactMatch ICD10CM:F95.0 Transient tic disorder semapv:UnspecifiedMatching MONDO:0002419 transient tic disorder skos:exactMatch MEDGEN:52814 semapv:UnspecifiedMatching MONDO:0002419 transient tic disorder skos:exactMatch NCIT:C116767 Transient Tic Disorder semapv:UnspecifiedMatching MONDO:0002419 transient tic disorder skos:exactMatch SCTID:56573006 semapv:UnspecifiedMatching MONDO:0002419 transient tic disorder skos:exactMatch UMLS:C0040702 semapv:UnspecifiedMatching MONDO:0002420 tic disorder skos:exactMatch DOID:2769 tic disorder semapv:UnspecifiedMatching MONDO:0002420 tic disorder skos:exactMatch ICD10CM:F95 Tic disorder semapv:UnspecifiedMatching MONDO:0002420 tic disorder skos:exactMatch MEDGEN:853666 semapv:UnspecifiedMatching MONDO:0002420 tic disorder skos:exactMatch SCTID:568005 semapv:UnspecifiedMatching MONDO:0002420 tic disorder skos:exactMatch UMLS:C2169806 semapv:UnspecifiedMatching MONDO:0002420 tic disorder skos:exactMatch mesh:D013981 semapv:UnspecifiedMatching MONDO:0002422 adamantinoma skos:exactMatch DOID:2775 long bone adamantinoma semapv:UnspecifiedMatching MONDO:0002422 adamantinoma skos:exactMatch DOID:2776 adamantinoma semapv:UnspecifiedMatching MONDO:0002422 adamantinoma skos:exactMatch MEDGEN:83163 semapv:UnspecifiedMatching MONDO:0002422 adamantinoma skos:exactMatch NCIT:C7644 Adamantinoma semapv:UnspecifiedMatching MONDO:0002422 adamantinoma skos:exactMatch OMIM:102660 adamantinoma of long bones semapv:UnspecifiedMatching MONDO:0002422 adamantinoma skos:exactMatch Orphanet:55881 Adamantinoma semapv:UnspecifiedMatching MONDO:0002422 adamantinoma skos:exactMatch SCTID:307609003 semapv:UnspecifiedMatching MONDO:0002422 adamantinoma skos:exactMatch UMLS:C0334556 semapv:UnspecifiedMatching MONDO:0002422 adamantinoma skos:exactMatch icd11.foundation:2013322169 Adamantinoma semapv:UnspecifiedMatching MONDO:0002422 adamantinoma skos:exactMatch mesh:C562741 semapv:UnspecifiedMatching MONDO:0002422 adamantinoma skos:exactMatch mesh:D050398 semapv:UnspecifiedMatching MONDO:0002423 rectosigmoid junction neoplasm skos:exactMatch DOID:2780 rectosigmoid junction neoplasm semapv:UnspecifiedMatching MONDO:0002423 rectosigmoid junction neoplasm skos:exactMatch MEDGEN:87517 semapv:UnspecifiedMatching MONDO:0002423 rectosigmoid junction neoplasm skos:exactMatch NCIT:C4877 Rectosigmoid Neoplasm semapv:UnspecifiedMatching MONDO:0002423 rectosigmoid junction neoplasm skos:exactMatch SCTID:126848003 semapv:UnspecifiedMatching MONDO:0002423 rectosigmoid junction neoplasm skos:exactMatch UMLS:C0345873 semapv:UnspecifiedMatching MONDO:0002424 rectosigmoid carcinoma skos:exactMatch DOID:2781 rectosigmoid cancer semapv:UnspecifiedMatching MONDO:0002424 rectosigmoid carcinoma skos:exactMatch MEDGEN:232963 semapv:UnspecifiedMatching MONDO:0002424 rectosigmoid carcinoma skos:exactMatch NCIT:C7421 Rectosigmoid Carcinoma semapv:UnspecifiedMatching MONDO:0002424 rectosigmoid carcinoma skos:exactMatch UMLS:C1327709 semapv:UnspecifiedMatching MONDO:0002424 rectosigmoid carcinoma skos:exactMatch icd11.foundation:1415734886 Carcinoma of rectosigmoid junction semapv:UnspecifiedMatching MONDO:0002425 rectosigmoid junction cancer skos:exactMatch DOID:2782 rectosigmoid junction cancer semapv:UnspecifiedMatching MONDO:0002425 rectosigmoid junction cancer skos:exactMatch ICD10CM:C19 Malignant neoplasm of rectosigmoid junction semapv:UnspecifiedMatching MONDO:0002425 rectosigmoid junction cancer skos:exactMatch MEDGEN:57558 semapv:UnspecifiedMatching MONDO:0002425 rectosigmoid junction cancer skos:exactMatch NCIT:C7420 Malignant Rectosigmoid Neoplasm semapv:UnspecifiedMatching MONDO:0002425 rectosigmoid junction cancer skos:exactMatch SCTID:363414004 semapv:UnspecifiedMatching MONDO:0002425 rectosigmoid junction cancer skos:exactMatch UMLS:C0153443 semapv:UnspecifiedMatching MONDO:0002425 rectosigmoid junction cancer skos:exactMatch icd11.foundation:774170412 Malignant neoplasms of rectosigmoid junction semapv:UnspecifiedMatching MONDO:0002426 lung sarcoma skos:exactMatch DOID:2784 lung sarcoma semapv:UnspecifiedMatching MONDO:0002426 lung sarcoma skos:exactMatch MEDGEN:109336 semapv:UnspecifiedMatching MONDO:0002426 lung sarcoma skos:exactMatch NCIT:C4860 Lung Sarcoma semapv:UnspecifiedMatching MONDO:0002426 lung sarcoma skos:exactMatch UMLS:C0598790 semapv:UnspecifiedMatching MONDO:0002427 cerebellar disorder skos:exactMatch DOID:2786 cerebellar disease semapv:UnspecifiedMatching MONDO:0002427 cerebellar disorder skos:exactMatch MEDGEN:40186 semapv:UnspecifiedMatching MONDO:0002427 cerebellar disorder skos:exactMatch SCTID:223176004 semapv:UnspecifiedMatching MONDO:0002427 cerebellar disorder skos:exactMatch UMLS:C0007760 semapv:UnspecifiedMatching MONDO:0002427 cerebellar disorder skos:exactMatch mesh:D002526 semapv:UnspecifiedMatching MONDO:0002428 protozoa infectious disease skos:exactMatch DOID:2789 parasitic protozoa infectious disease semapv:UnspecifiedMatching MONDO:0002428 protozoa infectious disease skos:exactMatch ICD10CM:B50-B64 Protozoal diseases (B50-B64) semapv:UnspecifiedMatching MONDO:0002428 protozoa infectious disease skos:exactMatch NCIT:C34953 Protozoal Infection semapv:UnspecifiedMatching MONDO:0002428 protozoa infectious disease skos:exactMatch mesh:D011528 semapv:UnspecifiedMatching MONDO:0002429 idiopathic interstitial pneumonia skos:exactMatch DOID:2797 idiopathic interstitial pneumonia semapv:UnspecifiedMatching MONDO:0002429 idiopathic interstitial pneumonia skos:exactMatch ICD10CM:J84.11 Idiopathic interstitial pneumonia semapv:UnspecifiedMatching MONDO:0002429 idiopathic interstitial pneumonia skos:exactMatch MEDGEN:389939 semapv:UnspecifiedMatching MONDO:0002429 idiopathic interstitial pneumonia skos:exactMatch NCIT:C35714 Idiopathic Interstitial Pneumonia semapv:UnspecifiedMatching MONDO:0002429 idiopathic interstitial pneumonia skos:exactMatch Orphanet:98300 Idiopathic interstitial pneumonia semapv:UnspecifiedMatching MONDO:0002429 idiopathic interstitial pneumonia skos:exactMatch SCTID:700249006 semapv:UnspecifiedMatching MONDO:0002429 idiopathic interstitial pneumonia skos:exactMatch UMLS:C2350236 semapv:UnspecifiedMatching MONDO:0002429 idiopathic interstitial pneumonia skos:exactMatch mesh:D054988 semapv:UnspecifiedMatching MONDO:0002432 malignant neoplasm of acoustic nerve skos:exactMatch DOID:2814 malignant neoplasm of acoustic nerve semapv:UnspecifiedMatching MONDO:0002432 malignant neoplasm of acoustic nerve skos:exactMatch ICD10CM:C72.4 Malignant neoplasm of acoustic nerve semapv:UnspecifiedMatching MONDO:0002432 malignant neoplasm of acoustic nerve skos:exactMatch MEDGEN:83418 semapv:UnspecifiedMatching MONDO:0002432 malignant neoplasm of acoustic nerve skos:exactMatch NCIT:C4539 Malignant Vestibulocochlear Nerve Neoplasm semapv:UnspecifiedMatching MONDO:0002432 malignant neoplasm of acoustic nerve skos:exactMatch SCTID:254980001 semapv:UnspecifiedMatching MONDO:0002432 malignant neoplasm of acoustic nerve skos:exactMatch UMLS:C0346331 semapv:UnspecifiedMatching MONDO:0002433 malignant cranial nerve neoplasm skos:exactMatch DOID:2815 cranial nerve malignant neoplasm semapv:UnspecifiedMatching MONDO:0002433 malignant cranial nerve neoplasm skos:exactMatch MEDGEN:57567 semapv:UnspecifiedMatching MONDO:0002433 malignant cranial nerve neoplasm skos:exactMatch NCIT:C3571 Malignant Cranial Nerve Neoplasm semapv:UnspecifiedMatching MONDO:0002433 malignant cranial nerve neoplasm skos:exactMatch SCTID:188307009 semapv:UnspecifiedMatching MONDO:0002433 malignant cranial nerve neoplasm skos:exactMatch UMLS:C0153644 semapv:UnspecifiedMatching MONDO:0002434 oculomotor nerve cancer skos:exactMatch DOID:2816 malignant oculomotor nerve tumor semapv:UnspecifiedMatching MONDO:0002434 oculomotor nerve cancer skos:exactMatch MEDGEN:195786 semapv:UnspecifiedMatching MONDO:0002434 oculomotor nerve cancer skos:exactMatch NCIT:C6995 Malignant Oculomotor Nerve Neoplasm semapv:UnspecifiedMatching MONDO:0002434 oculomotor nerve cancer skos:exactMatch SCTID:93929003 semapv:UnspecifiedMatching MONDO:0002434 oculomotor nerve cancer skos:exactMatch UMLS:C0686417 semapv:UnspecifiedMatching MONDO:0002434 oculomotor nerve cancer skos:exactMatch icd11.foundation:317144943 Primary malignant neoplasm of oculomotor nerve semapv:UnspecifiedMatching MONDO:0002435 oculomotor nerve neoplasm skos:exactMatch DOID:2817 cranial nerve III tumor semapv:UnspecifiedMatching MONDO:0002435 oculomotor nerve neoplasm skos:exactMatch MEDGEN:220391 semapv:UnspecifiedMatching MONDO:0002435 oculomotor nerve neoplasm skos:exactMatch NCIT:C6994 Oculomotor Nerve Neoplasm semapv:UnspecifiedMatching MONDO:0002435 oculomotor nerve neoplasm skos:exactMatch SCTID:126969002 semapv:UnspecifiedMatching MONDO:0002435 oculomotor nerve neoplasm skos:exactMatch UMLS:C1263895 semapv:UnspecifiedMatching MONDO:0002436 nasal disorder skos:exactMatch DOID:2825 nose disease semapv:UnspecifiedMatching MONDO:0002436 nasal disorder skos:exactMatch MEDGEN:10385 semapv:UnspecifiedMatching MONDO:0002436 nasal disorder skos:exactMatch SCTID:89488007 semapv:UnspecifiedMatching MONDO:0002436 nasal disorder skos:exactMatch UMLS:C0028432 semapv:UnspecifiedMatching MONDO:0002436 nasal disorder skos:exactMatch mesh:D009668 semapv:UnspecifiedMatching MONDO:0002437 dehydration polycythemia skos:exactMatch DOID:2833 dehydration polycythemia semapv:UnspecifiedMatching MONDO:0002437 dehydration polycythemia skos:exactMatch MEDGEN:163544 semapv:UnspecifiedMatching MONDO:0002437 dehydration polycythemia skos:exactMatch NCIT:C27310 Dehydration Polycythemia semapv:UnspecifiedMatching MONDO:0002437 dehydration polycythemia skos:exactMatch UMLS:C0856815 semapv:UnspecifiedMatching MONDO:0002438 acquired polycythemia skos:exactMatch DOID:2834 acquired polycythemia semapv:UnspecifiedMatching MONDO:0002440 erythropoietin polycythemia skos:exactMatch DOID:2839 erythropoietin polycythemia semapv:UnspecifiedMatching MONDO:0002440 erythropoietin polycythemia skos:exactMatch MEDGEN:98214 semapv:UnspecifiedMatching MONDO:0002440 erythropoietin polycythemia skos:exactMatch NCIT:C35434 Polycythaemia due to Excess Erythropoetin Production semapv:UnspecifiedMatching MONDO:0002440 erythropoietin polycythemia skos:exactMatch SCTID:367328005 semapv:UnspecifiedMatching MONDO:0002440 erythropoietin polycythemia skos:exactMatch UMLS:C0391869 semapv:UnspecifiedMatching MONDO:0002441 Jervell and Lange-Nielsen syndrome skos:exactMatch DOID:2842 Jervell-Lange Nielsen syndrome semapv:UnspecifiedMatching MONDO:0002441 Jervell and Lange-Nielsen syndrome skos:exactMatch MEDGEN:5929 semapv:UnspecifiedMatching MONDO:0002441 Jervell and Lange-Nielsen syndrome skos:exactMatch NCIT:C84793 Jervell and Lange Nielsen Syndrome semapv:UnspecifiedMatching MONDO:0002441 Jervell and Lange-Nielsen syndrome skos:exactMatch OMIMPS:220400 Jervell and Lange-Nielsen syndrome semapv:UnspecifiedMatching MONDO:0002441 Jervell and Lange-Nielsen syndrome skos:exactMatch Orphanet:90647 Jervell and Lange-Nielsen syndrome semapv:UnspecifiedMatching MONDO:0002441 Jervell and Lange-Nielsen syndrome skos:exactMatch SCTID:373905003 semapv:UnspecifiedMatching MONDO:0002441 Jervell and Lange-Nielsen syndrome skos:exactMatch UMLS:C0022387 semapv:UnspecifiedMatching MONDO:0002441 Jervell and Lange-Nielsen syndrome skos:exactMatch mesh:D029593 semapv:UnspecifiedMatching MONDO:0002442 long QT syndrome skos:exactMatch DOID:2843 long QT syndrome semapv:UnspecifiedMatching MONDO:0002442 long QT syndrome skos:exactMatch ICD10CM:I45.81 Long QT syndrome semapv:UnspecifiedMatching MONDO:0002442 long QT syndrome skos:exactMatch MEDGEN:44193 semapv:UnspecifiedMatching MONDO:0002442 long QT syndrome skos:exactMatch NCIT:C34786 Long QT Syndrome semapv:UnspecifiedMatching MONDO:0002442 long QT syndrome skos:exactMatch UMLS:C0023976 semapv:UnspecifiedMatching MONDO:0002442 long QT syndrome skos:exactMatch mesh:D008133 semapv:UnspecifiedMatching MONDO:0002443 bruxism skos:exactMatch DOID:2846 bruxism semapv:UnspecifiedMatching MONDO:0002443 bruxism skos:exactMatch ICD10CM:G47.63 Sleep related bruxism semapv:UnspecifiedMatching MONDO:0002443 bruxism skos:exactMatch MEDGEN:676 semapv:UnspecifiedMatching MONDO:0002443 bruxism skos:exactMatch UMLS:C0006325 semapv:UnspecifiedMatching MONDO:0002443 bruxism skos:exactMatch icd11.foundation:1046319083 Bruxism semapv:UnspecifiedMatching MONDO:0002443 bruxism skos:exactMatch mesh:D002012 semapv:UnspecifiedMatching MONDO:0002444 melancholia skos:exactMatch EFO:1002014 semapv:UnspecifiedMatching MONDO:0002444 melancholia skos:exactMatch MEDGEN:6288 semapv:UnspecifiedMatching MONDO:0002444 melancholia skos:exactMatch NCIT:C34812 Melancholic Depression semapv:UnspecifiedMatching MONDO:0002444 melancholia skos:exactMatch UMLS:C0025193 semapv:UnspecifiedMatching MONDO:0002447 endometrial carcinoma skos:exactMatch DOID:2871 endometrial carcinoma semapv:UnspecifiedMatching MONDO:0002447 endometrial carcinoma skos:exactMatch EFO:1001512 semapv:UnspecifiedMatching MONDO:0002447 endometrial carcinoma skos:exactMatch MEDGEN:96903 semapv:UnspecifiedMatching MONDO:0002447 endometrial carcinoma skos:exactMatch NCIT:C7558 Endometrial Carcinoma semapv:UnspecifiedMatching MONDO:0002447 endometrial carcinoma skos:exactMatch SCTID:254878006 semapv:UnspecifiedMatching MONDO:0002447 endometrial carcinoma skos:exactMatch UMLS:C0476089 semapv:UnspecifiedMatching MONDO:0002447 endometrial carcinoma skos:exactMatch icd11.foundation:1123821211 Endometrial carcinoma semapv:UnspecifiedMatching MONDO:0002448 laryngeal sarcoma skos:exactMatch DOID:2877 larynx sarcoma semapv:UnspecifiedMatching MONDO:0002448 laryngeal sarcoma skos:exactMatch MEDGEN:233610 semapv:UnspecifiedMatching MONDO:0002448 laryngeal sarcoma skos:exactMatch NCIT:C6020 Laryngeal Sarcoma semapv:UnspecifiedMatching MONDO:0002448 laryngeal sarcoma skos:exactMatch UMLS:C1334377 semapv:UnspecifiedMatching MONDO:0002449 nodular degeneration of cornea skos:exactMatch DOID:2879 nodular degeneration of cornea semapv:UnspecifiedMatching MONDO:0002449 nodular degeneration of cornea skos:exactMatch MEDGEN:509799 semapv:UnspecifiedMatching MONDO:0002449 nodular degeneration of cornea skos:exactMatch SCTID:72620002 semapv:UnspecifiedMatching MONDO:0002449 nodular degeneration of cornea skos:exactMatch UMLS:C0155122 semapv:UnspecifiedMatching MONDO:0002450 prostatic adenoma skos:exactMatch DOID:2883 prostatic adenoma semapv:UnspecifiedMatching MONDO:0002450 prostatic adenoma skos:exactMatch MEDGEN:105447 semapv:UnspecifiedMatching MONDO:0002450 prostatic adenoma skos:exactMatch SCTID:21173002 semapv:UnspecifiedMatching MONDO:0002450 prostatic adenoma skos:exactMatch UMLS:C0520477 semapv:UnspecifiedMatching MONDO:0002451 benign prostate phyllodes tumor skos:exactMatch DOID:2885 benign prostate phyllodes tumor semapv:UnspecifiedMatching MONDO:0002451 benign prostate phyllodes tumor skos:exactMatch MEDGEN:272364 semapv:UnspecifiedMatching MONDO:0002451 benign prostate phyllodes tumor skos:exactMatch NCIT:C5532 Benign Prostate Phyllodes Tumor semapv:UnspecifiedMatching MONDO:0002451 benign prostate phyllodes tumor skos:exactMatch UMLS:C1332535 semapv:UnspecifiedMatching MONDO:0002452 prostate leiomyoma skos:exactMatch DOID:2887 prostate leiomyoma semapv:UnspecifiedMatching MONDO:0002452 prostate leiomyoma skos:exactMatch MEDGEN:233875 semapv:UnspecifiedMatching MONDO:0002452 prostate leiomyoma skos:exactMatch NCIT:C5544 Prostate Leiomyoma semapv:UnspecifiedMatching MONDO:0002452 prostate leiomyoma skos:exactMatch UMLS:C1335510 semapv:UnspecifiedMatching MONDO:0002453 retrocochlear disease skos:exactMatch DOID:2889 retrocochlear disease semapv:UnspecifiedMatching MONDO:0002453 retrocochlear disease skos:exactMatch MEDGEN:11216 semapv:UnspecifiedMatching MONDO:0002453 retrocochlear disease skos:exactMatch UMLS:C0035352 semapv:UnspecifiedMatching MONDO:0002453 retrocochlear disease skos:exactMatch mesh:D012181 semapv:UnspecifiedMatching MONDO:0002455 exocervical carcinoma skos:exactMatch DOID:2892 exocervical carcinoma semapv:UnspecifiedMatching MONDO:0002455 exocervical carcinoma skos:exactMatch MEDGEN:226967 semapv:UnspecifiedMatching MONDO:0002455 exocervical carcinoma skos:exactMatch NCIT:C7453 Exocervical Carcinoma semapv:UnspecifiedMatching MONDO:0002455 exocervical carcinoma skos:exactMatch SCTID:372100004 semapv:UnspecifiedMatching MONDO:0002455 exocervical carcinoma skos:exactMatch UMLS:C1299238 semapv:UnspecifiedMatching MONDO:0002457 Treacher-Collins syndrome skos:exactMatch DOID:2908 Treacher Collins syndrome semapv:UnspecifiedMatching MONDO:0002457 Treacher-Collins syndrome skos:exactMatch MEDGEN:66078 semapv:UnspecifiedMatching MONDO:0002457 Treacher-Collins syndrome skos:exactMatch NCIT:C75018 Treacher Collins Syndrome semapv:UnspecifiedMatching MONDO:0002457 Treacher-Collins syndrome skos:exactMatch OMIMPS:154500 Treacher Collins syndrome semapv:UnspecifiedMatching MONDO:0002457 Treacher-Collins syndrome skos:exactMatch Orphanet:861 Treacher-Collins syndrome semapv:UnspecifiedMatching MONDO:0002457 Treacher-Collins syndrome skos:exactMatch SCTID:62767009 semapv:UnspecifiedMatching MONDO:0002457 Treacher-Collins syndrome skos:exactMatch UMLS:C0242387 semapv:UnspecifiedMatching MONDO:0002457 Treacher-Collins syndrome skos:exactMatch icd11.foundation:969026676 Treacher-Collins syndrome semapv:UnspecifiedMatching MONDO:0002459 type IV hypersensitivity disease skos:exactMatch DOID:2916 hypersensitivity reaction type IV disease semapv:UnspecifiedMatching MONDO:0002459 type IV hypersensitivity disease skos:exactMatch MEDGEN:9371 semapv:UnspecifiedMatching MONDO:0002459 type IV hypersensitivity disease skos:exactMatch NCIT:C3115 Type IV Hypersensitivity semapv:UnspecifiedMatching MONDO:0002459 type IV hypersensitivity disease skos:exactMatch UMLS:C0020522 semapv:UnspecifiedMatching MONDO:0002460 lacrimal system cancer skos:exactMatch DOID:292 lacrimal system cancer semapv:UnspecifiedMatching MONDO:0002460 lacrimal system cancer skos:exactMatch MEDGEN:272790 semapv:UnspecifiedMatching MONDO:0002460 lacrimal system cancer skos:exactMatch NCIT:C5102 Lacrimal System Neoplasm semapv:UnspecifiedMatching MONDO:0002460 lacrimal system cancer skos:exactMatch SCTID:416510003 semapv:UnspecifiedMatching MONDO:0002460 lacrimal system cancer skos:exactMatch UMLS:C1334361 semapv:UnspecifiedMatching MONDO:0002460 lacrimal system cancer skos:exactMatch icd11.foundation:456911769 Malignant neoplasm of lacrimal apparatus semapv:UnspecifiedMatching MONDO:0002461 membranoproliferative glomerulonephritis skos:exactMatch DOID:2920 membranoproliferative glomerulonephritis semapv:UnspecifiedMatching MONDO:0002461 membranoproliferative glomerulonephritis skos:exactMatch MEDGEN:9033 semapv:UnspecifiedMatching MONDO:0002461 membranoproliferative glomerulonephritis skos:exactMatch NCIT:C34644 Membranoproliferative Glomerulonephritis semapv:UnspecifiedMatching MONDO:0002461 membranoproliferative glomerulonephritis skos:exactMatch SCTID:80321008 semapv:UnspecifiedMatching MONDO:0002461 membranoproliferative glomerulonephritis skos:exactMatch UMLS:C0017662 semapv:UnspecifiedMatching MONDO:0002461 membranoproliferative glomerulonephritis skos:exactMatch mesh:D015432 semapv:UnspecifiedMatching MONDO:0002462 glomerulonephritis skos:exactMatch DOID:2921 glomerulonephritis semapv:UnspecifiedMatching MONDO:0002462 glomerulonephritis skos:exactMatch MEDGEN:6616 semapv:UnspecifiedMatching MONDO:0002462 glomerulonephritis skos:exactMatch NCIT:C26784 Glomerulonephritis semapv:UnspecifiedMatching MONDO:0002462 glomerulonephritis skos:exactMatch SCTID:36171008 semapv:UnspecifiedMatching MONDO:0002462 glomerulonephritis skos:exactMatch UMLS:C0017658 semapv:UnspecifiedMatching MONDO:0002462 glomerulonephritis skos:exactMatch mesh:D005921 semapv:UnspecifiedMatching MONDO:0002463 lacrimal gland carcinoma skos:exactMatch DOID:293 lacrimal gland carcinoma semapv:UnspecifiedMatching MONDO:0002463 lacrimal gland carcinoma skos:exactMatch MEDGEN:233606 semapv:UnspecifiedMatching MONDO:0002463 lacrimal gland carcinoma skos:exactMatch NCIT:C6129 Lacrimal Gland Carcinoma semapv:UnspecifiedMatching MONDO:0002463 lacrimal gland carcinoma skos:exactMatch UMLS:C1334358 semapv:UnspecifiedMatching MONDO:0002464 lacrimal gland cancer skos:exactMatch DOID:294 lacrimal gland cancer semapv:UnspecifiedMatching MONDO:0002464 lacrimal gland cancer skos:exactMatch MEDGEN:56315 semapv:UnspecifiedMatching MONDO:0002464 lacrimal gland cancer skos:exactMatch NCIT:C3563 Malignant Lacrimal Gland Neoplasm semapv:UnspecifiedMatching MONDO:0002464 lacrimal gland cancer skos:exactMatch SCTID:127004000 semapv:UnspecifiedMatching MONDO:0002464 lacrimal gland cancer skos:exactMatch UMLS:C0153627 semapv:UnspecifiedMatching MONDO:0002465 bronchiolitis skos:exactMatch DOID:2942 bronchiolitis semapv:UnspecifiedMatching MONDO:0002465 bronchiolitis skos:exactMatch MEDGEN:14235 semapv:UnspecifiedMatching MONDO:0002465 bronchiolitis skos:exactMatch NCIT:C39658 Bronchiolitis semapv:UnspecifiedMatching MONDO:0002465 bronchiolitis skos:exactMatch SCTID:4120002 semapv:UnspecifiedMatching MONDO:0002465 bronchiolitis skos:exactMatch UMLS:C0006271 semapv:UnspecifiedMatching MONDO:0002465 bronchiolitis skos:exactMatch mesh:D001988 semapv:UnspecifiedMatching MONDO:0002466 eye carcinoma skos:exactMatch DOID:295 eye carcinoma semapv:UnspecifiedMatching MONDO:0002466 eye carcinoma skos:exactMatch MEDGEN:208855 semapv:UnspecifiedMatching MONDO:0002466 eye carcinoma skos:exactMatch NCIT:C6079 Eye Carcinoma semapv:UnspecifiedMatching MONDO:0002466 eye carcinoma skos:exactMatch UMLS:C0848866 semapv:UnspecifiedMatching MONDO:0002467 inner ear disorder skos:exactMatch DOID:2952 inner ear disease semapv:UnspecifiedMatching MONDO:0002467 inner ear disorder skos:exactMatch EFO:0009672 semapv:UnspecifiedMatching MONDO:0002467 inner ear disorder skos:exactMatch ICD10CM:H80-H83 Diseases of inner ear (H80-H83) semapv:UnspecifiedMatching MONDO:0002467 inner ear disorder skos:exactMatch MEDGEN:141671 semapv:UnspecifiedMatching MONDO:0002467 inner ear disorder skos:exactMatch NCIT:C27166 Inner Ear Disorder semapv:UnspecifiedMatching MONDO:0002467 inner ear disorder skos:exactMatch SCTID:232297009 semapv:UnspecifiedMatching MONDO:0002467 inner ear disorder skos:exactMatch UMLS:C0494559 semapv:UnspecifiedMatching MONDO:0002467 inner ear disorder skos:exactMatch mesh:D007759 semapv:UnspecifiedMatching MONDO:0002468 hyperimmunoglobulin syndrome skos:exactMatch DOID:2959 hyperimmunoglobulin syndrome semapv:UnspecifiedMatching MONDO:0002468 hyperimmunoglobulin syndrome skos:exactMatch MEDGEN:272730 semapv:UnspecifiedMatching MONDO:0002468 hyperimmunoglobulin syndrome skos:exactMatch NCIT:C27579 Hyperimmunoglobulin Syndrome semapv:UnspecifiedMatching MONDO:0002468 hyperimmunoglobulin syndrome skos:exactMatch UMLS:C1334069 semapv:UnspecifiedMatching MONDO:0002469 lacrimal gland carcinoma ex pleomorphic adenoma skos:exactMatch DOID:296 mixed lacrimal gland cancer semapv:UnspecifiedMatching MONDO:0002469 lacrimal gland carcinoma ex pleomorphic adenoma skos:exactMatch MEDGEN:138058 semapv:UnspecifiedMatching MONDO:0002469 lacrimal gland carcinoma ex pleomorphic adenoma skos:exactMatch NCIT:C6804 Lacrimal Gland Carcinoma ex Pleomorphic Adenoma semapv:UnspecifiedMatching MONDO:0002469 lacrimal gland carcinoma ex pleomorphic adenoma skos:exactMatch SCTID:254989000 semapv:UnspecifiedMatching MONDO:0002469 lacrimal gland carcinoma ex pleomorphic adenoma skos:exactMatch UMLS:C0346342 semapv:UnspecifiedMatching MONDO:0002470 photosensitive trichothiodystrophy skos:exactMatch DOID:2960 photosensitive trichothiodystrophy semapv:UnspecifiedMatching MONDO:0002470 photosensitive trichothiodystrophy skos:exactMatch MEDGEN:336339 semapv:UnspecifiedMatching MONDO:0002470 photosensitive trichothiodystrophy skos:exactMatch UMLS:C1848412 semapv:UnspecifiedMatching MONDO:0002471 bursitis skos:exactMatch DOID:2965 bursitis semapv:UnspecifiedMatching MONDO:0002471 bursitis skos:exactMatch MEDGEN:691 semapv:UnspecifiedMatching MONDO:0002471 bursitis skos:exactMatch NCIT:C94407 Bursitis semapv:UnspecifiedMatching MONDO:0002471 bursitis skos:exactMatch SCTID:84017003 semapv:UnspecifiedMatching MONDO:0002471 bursitis skos:exactMatch UMLS:C0006444 semapv:UnspecifiedMatching MONDO:0002471 bursitis skos:exactMatch icd11.foundation:1984620329 Bursitis semapv:UnspecifiedMatching MONDO:0002471 bursitis skos:exactMatch mesh:D002062 semapv:UnspecifiedMatching MONDO:0002472 carcinoma ex pleomorphic adenoma skos:exactMatch MEDGEN:87486 semapv:UnspecifiedMatching MONDO:0002472 carcinoma ex pleomorphic adenoma skos:exactMatch NCIT:C4397 Carcinoma ex Pleomorphic Adenoma semapv:UnspecifiedMatching MONDO:0002472 carcinoma ex pleomorphic adenoma skos:exactMatch UMLS:C0344460 semapv:UnspecifiedMatching MONDO:0002473 cystic kidney disease skos:exactMatch DOID:2975 cystic kidney disease semapv:UnspecifiedMatching MONDO:0002473 cystic kidney disease skos:exactMatch EFO:0008615 semapv:UnspecifiedMatching MONDO:0002473 cystic kidney disease skos:exactMatch ICD10CM:Q61 Cystic kidney disease semapv:UnspecifiedMatching MONDO:0002473 cystic kidney disease skos:exactMatch ICD10WHO:Q61 Cystic kidney disease semapv:UnspecifiedMatching MONDO:0002473 cystic kidney disease skos:exactMatch MEDGEN:854361 semapv:UnspecifiedMatching MONDO:0002473 cystic kidney disease skos:exactMatch NCIT:C34750 Cystic Kidney Disease semapv:UnspecifiedMatching MONDO:0002473 cystic kidney disease skos:exactMatch SCTID:722223000 semapv:UnspecifiedMatching MONDO:0002473 cystic kidney disease skos:exactMatch UMLS:C3887499 semapv:UnspecifiedMatching MONDO:0002473 cystic kidney disease skos:exactMatch mesh:D052177 semapv:UnspecifiedMatching MONDO:0002474 primary hyperoxaluria skos:exactMatch DOID:2977 primary hyperoxaluria semapv:UnspecifiedMatching MONDO:0002474 primary hyperoxaluria skos:exactMatch ICD10CM:E72.53 Primary hyperoxaluria semapv:UnspecifiedMatching MONDO:0002474 primary hyperoxaluria skos:exactMatch MEDGEN:5697 semapv:UnspecifiedMatching MONDO:0002474 primary hyperoxaluria skos:exactMatch NCIT:C123158 Primary Hyperoxaluria semapv:UnspecifiedMatching MONDO:0002474 primary hyperoxaluria skos:exactMatch OMIMPS:259900 Hyperoxaluria, primary semapv:UnspecifiedMatching MONDO:0002474 primary hyperoxaluria skos:exactMatch Orphanet:416 Primary hyperoxaluria semapv:UnspecifiedMatching MONDO:0002474 primary hyperoxaluria skos:exactMatch SCTID:17901006 semapv:UnspecifiedMatching MONDO:0002474 primary hyperoxaluria skos:exactMatch UMLS:C0020501 semapv:UnspecifiedMatching MONDO:0002474 primary hyperoxaluria skos:exactMatch mesh:D006960 semapv:UnspecifiedMatching MONDO:0002475 lacrimal gland adenocarcinoma skos:exactMatch DOID:298 lacrimal gland adenocarcinoma semapv:UnspecifiedMatching MONDO:0002475 lacrimal gland adenocarcinoma skos:exactMatch MEDGEN:87556 semapv:UnspecifiedMatching MONDO:0002475 lacrimal gland adenocarcinoma skos:exactMatch NCIT:C4541 Lacrimal Gland Adenocarcinoma semapv:UnspecifiedMatching MONDO:0002475 lacrimal gland adenocarcinoma skos:exactMatch SCTID:254988008 semapv:UnspecifiedMatching MONDO:0002475 lacrimal gland adenocarcinoma skos:exactMatch UMLS:C0346341 semapv:UnspecifiedMatching MONDO:0002476 anuria skos:exactMatch DOID:2983 anuria semapv:UnspecifiedMatching MONDO:0002476 anuria skos:exactMatch EFO:0009530 semapv:UnspecifiedMatching MONDO:0002476 anuria skos:exactMatch MEDGEN:358 semapv:UnspecifiedMatching MONDO:0002476 anuria skos:exactMatch UMLS:C0003460 semapv:UnspecifiedMatching MONDO:0002476 anuria skos:exactMatch icd11.foundation:248693056 Anuria semapv:UnspecifiedMatching MONDO:0002476 anuria skos:exactMatch mesh:D001002 semapv:UnspecifiedMatching MONDO:0002477 prostate neuroendocrine neoplasm skos:exactMatch DOID:2992 prostate neuroendocrine neoplasm semapv:UnspecifiedMatching MONDO:0002477 prostate neuroendocrine neoplasm skos:exactMatch MEDGEN:277537 semapv:UnspecifiedMatching MONDO:0002477 prostate neuroendocrine neoplasm skos:exactMatch NCIT:C5545 Prostate Neuroendocrine Neoplasm semapv:UnspecifiedMatching MONDO:0002477 prostate neuroendocrine neoplasm skos:exactMatch UMLS:C1335515 semapv:UnspecifiedMatching MONDO:0002478 mixed germ cell-sex cord-stromal tumor skos:exactMatch DOID:2996 mixed germ cell-sex cord neoplasm semapv:UnspecifiedMatching MONDO:0002478 mixed germ cell-sex cord-stromal tumor skos:exactMatch MEDGEN:232941 semapv:UnspecifiedMatching MONDO:0002478 mixed germ cell-sex cord-stromal tumor skos:exactMatch NCIT:C5241 Mixed Germ Cell-Sex Cord-Stromal Tumor semapv:UnspecifiedMatching MONDO:0002478 mixed germ cell-sex cord-stromal tumor skos:exactMatch UMLS:C1321220 semapv:UnspecifiedMatching MONDO:0002479 Sertoli-Leydig cell tumor skos:exactMatch DOID:2997 Sertoli-Leydig cell tumor semapv:UnspecifiedMatching MONDO:0002479 Sertoli-Leydig cell tumor skos:exactMatch MEDGEN:61669 semapv:UnspecifiedMatching MONDO:0002479 Sertoli-Leydig cell tumor skos:exactMatch UMLS:C0206723 semapv:UnspecifiedMatching MONDO:0002479 Sertoli-Leydig cell tumor skos:exactMatch mesh:D018310 semapv:UnspecifiedMatching MONDO:0002480 endometrioid tumor skos:exactMatch DOID:3001 female reproductive endometrioid cancer semapv:UnspecifiedMatching MONDO:0002480 endometrioid tumor skos:exactMatch MEDGEN:105374 semapv:UnspecifiedMatching MONDO:0002480 endometrioid tumor skos:exactMatch NCIT:C7113 Endometrioid Tumor semapv:UnspecifiedMatching MONDO:0002480 endometrioid tumor skos:exactMatch UMLS:C0474809 semapv:UnspecifiedMatching MONDO:0002481 ovarian neuroendocrine neoplasm skos:exactMatch DOID:3002 ovary neuroendocrine neoplasm semapv:UnspecifiedMatching MONDO:0002481 ovarian neuroendocrine neoplasm skos:exactMatch MEDGEN:277459 semapv:UnspecifiedMatching MONDO:0002481 ovarian neuroendocrine neoplasm skos:exactMatch NCIT:C5237 Ovarian Neuroendocrine Neoplasm semapv:UnspecifiedMatching MONDO:0002481 ovarian neuroendocrine neoplasm skos:exactMatch UMLS:C1335172 semapv:UnspecifiedMatching MONDO:0002482 nipple neoplasm skos:exactMatch DOID:3003 nipple benign neoplasm semapv:UnspecifiedMatching MONDO:0002482 nipple neoplasm skos:exactMatch MEDGEN:205111 semapv:UnspecifiedMatching MONDO:0002482 nipple neoplasm skos:exactMatch NCIT:C5212 Nipple Neoplasm semapv:UnspecifiedMatching MONDO:0002482 nipple neoplasm skos:exactMatch UMLS:C1112166 semapv:UnspecifiedMatching MONDO:0002483 breast myoepithelial tumor skos:exactMatch DOID:3004 breast myoepithelial neoplasm semapv:UnspecifiedMatching MONDO:0002483 breast myoepithelial tumor skos:exactMatch MEDGEN:267411 semapv:UnspecifiedMatching MONDO:0002483 breast myoepithelial tumor skos:exactMatch NCIT:C40389 Breast Myoepithelial Tumor semapv:UnspecifiedMatching MONDO:0002483 breast myoepithelial tumor skos:exactMatch UMLS:C1511319 semapv:UnspecifiedMatching MONDO:0002485 breast neuroendocrine neoplasm skos:exactMatch DOID:3009 breast neuroendocrine neoplasm semapv:UnspecifiedMatching MONDO:0002485 breast neuroendocrine neoplasm skos:exactMatch MEDGEN:231969 semapv:UnspecifiedMatching MONDO:0002485 breast neuroendocrine neoplasm skos:exactMatch NCIT:C5169 Breast Neuroendocrine Neoplasm semapv:UnspecifiedMatching MONDO:0002485 breast neuroendocrine neoplasm skos:exactMatch UMLS:C1332635 semapv:UnspecifiedMatching MONDO:0002486 lobular neoplasia skos:exactMatch DOID:3010 lobular neoplasia semapv:UnspecifiedMatching MONDO:0002486 lobular neoplasia skos:exactMatch MEDGEN:167824 semapv:UnspecifiedMatching MONDO:0002486 lobular neoplasia skos:exactMatch NCIT:C27939 Breast Lobular Neoplasia semapv:UnspecifiedMatching MONDO:0002486 lobular neoplasia skos:exactMatch UMLS:C0861352 semapv:UnspecifiedMatching MONDO:0002487 breast granular cell tumor skos:exactMatch DOID:3011 breast granular cell tumor semapv:UnspecifiedMatching MONDO:0002487 breast granular cell tumor skos:exactMatch MEDGEN:307309 semapv:UnspecifiedMatching MONDO:0002487 breast granular cell tumor skos:exactMatch NCIT:C40400 Breast Granular Cell Tumor semapv:UnspecifiedMatching MONDO:0002487 breast granular cell tumor skos:exactMatch UMLS:C1511312 semapv:UnspecifiedMatching MONDO:0002488 intraductal breast neoplasm skos:exactMatch DOID:3013 intraductal breast benign neoplasm semapv:UnspecifiedMatching MONDO:0002488 intraductal breast neoplasm skos:exactMatch MEDGEN:184927 semapv:UnspecifiedMatching MONDO:0002488 intraductal breast neoplasm skos:exactMatch NCIT:C36083 Breast Intraductal Neoplasm semapv:UnspecifiedMatching MONDO:0002488 intraductal breast neoplasm skos:exactMatch UMLS:C0948967 semapv:UnspecifiedMatching MONDO:0002489 malignant breast phyllodes tumor skos:exactMatch DOID:3016 breast malignant phyllodes tumor semapv:UnspecifiedMatching MONDO:0002489 malignant breast phyllodes tumor skos:exactMatch EFO:0008545 semapv:UnspecifiedMatching MONDO:0002489 malignant breast phyllodes tumor skos:exactMatch MEDGEN:87543 semapv:UnspecifiedMatching MONDO:0002489 malignant breast phyllodes tumor skos:exactMatch NCIT:C4504 Malignant Breast Phyllodes Tumor semapv:UnspecifiedMatching MONDO:0002489 malignant breast phyllodes tumor skos:exactMatch SCTID:254844000 semapv:UnspecifiedMatching MONDO:0002489 malignant breast phyllodes tumor skos:exactMatch UMLS:C0346154 semapv:UnspecifiedMatching MONDO:0002489 malignant breast phyllodes tumor skos:exactMatch icd11.foundation:147026376 Malignant phyllodes tumour of breast semapv:UnspecifiedMatching MONDO:0002490 breast sarcoma skos:exactMatch DOID:3017 breast sarcoma semapv:UnspecifiedMatching MONDO:0002490 breast sarcoma skos:exactMatch MEDGEN:87613 semapv:UnspecifiedMatching MONDO:0002490 breast sarcoma skos:exactMatch NCIT:C4670 Breast Sarcoma semapv:UnspecifiedMatching MONDO:0002490 breast sarcoma skos:exactMatch SCTID:278050001 semapv:UnspecifiedMatching MONDO:0002490 breast sarcoma skos:exactMatch UMLS:C0349667 semapv:UnspecifiedMatching MONDO:0002491 substance abuse skos:exactMatch DOID:302 substance abuse semapv:UnspecifiedMatching MONDO:0002491 substance abuse skos:exactMatch MEDGEN:152849 semapv:UnspecifiedMatching MONDO:0002491 substance abuse skos:exactMatch SCTID:66214007 semapv:UnspecifiedMatching MONDO:0002491 substance abuse skos:exactMatch UMLS:C0740858 semapv:UnspecifiedMatching MONDO:0002492 acute kidney injury skos:exactMatch DOID:3021 acute kidney failure semapv:UnspecifiedMatching MONDO:0002492 acute kidney injury skos:exactMatch ICD10CM:N17 Acute kidney failure semapv:UnspecifiedMatching MONDO:0002492 acute kidney injury skos:exactMatch MEDGEN:388570 semapv:UnspecifiedMatching MONDO:0002492 acute kidney injury skos:exactMatch NCIT:C26808 Acute Renal Failure semapv:UnspecifiedMatching MONDO:0002492 acute kidney injury skos:exactMatch UMLS:C2609414 semapv:UnspecifiedMatching MONDO:0002492 acute kidney injury skos:exactMatch icd11.foundation:476391827 Acute kidney failure semapv:UnspecifiedMatching MONDO:0002492 acute kidney injury skos:exactMatch mesh:D058186 semapv:UnspecifiedMatching MONDO:0002493 prostatic acinar adenocarcinoma skos:exactMatch DOID:3024 prostatic acinar adenocarcinoma semapv:UnspecifiedMatching MONDO:0002493 prostatic acinar adenocarcinoma skos:exactMatch MEDGEN:231350 semapv:UnspecifiedMatching MONDO:0002493 prostatic acinar adenocarcinoma skos:exactMatch NCIT:C5596 Prostate Acinar Adenocarcinoma semapv:UnspecifiedMatching MONDO:0002493 prostatic acinar adenocarcinoma skos:exactMatch UMLS:C1332139 semapv:UnspecifiedMatching MONDO:0002494 substance-related disorder skos:exactMatch DOID:303 substance-related disorder semapv:UnspecifiedMatching MONDO:0002494 substance-related disorder skos:exactMatch ICD10CM:F10-F19 Mental and behavioral disorders due to psychoactive substance use (F10-F19) semapv:UnspecifiedMatching MONDO:0002494 substance-related disorder skos:exactMatch MEDGEN:66746 semapv:UnspecifiedMatching MONDO:0002494 substance-related disorder skos:exactMatch NCIT:C92203 Substance-Related Disorder semapv:UnspecifiedMatching MONDO:0002494 substance-related disorder skos:exactMatch UMLS:C0236969 semapv:UnspecifiedMatching MONDO:0002494 substance-related disorder skos:exactMatch mesh:D019966 semapv:UnspecifiedMatching MONDO:0002495 colon signet ring cell adenocarcinoma skos:exactMatch DOID:3033 colon signet ring adenocarcinoma semapv:UnspecifiedMatching MONDO:0002495 colon signet ring cell adenocarcinoma skos:exactMatch MEDGEN:313039 semapv:UnspecifiedMatching MONDO:0002495 colon signet ring cell adenocarcinoma skos:exactMatch NCIT:C7967 Colon Signet Ring Cell Adenocarcinoma semapv:UnspecifiedMatching MONDO:0002495 colon signet ring cell adenocarcinoma skos:exactMatch UMLS:C1707436 semapv:UnspecifiedMatching MONDO:0002496 submucosal invasive colon adenocarcinoma skos:exactMatch DOID:3038 submucosal invasive colon adenocarcinoma semapv:UnspecifiedMatching MONDO:0002496 submucosal invasive colon adenocarcinoma skos:exactMatch MEDGEN:271523 semapv:UnspecifiedMatching MONDO:0002496 submucosal invasive colon adenocarcinoma skos:exactMatch NCIT:C38760 Submucosal Invasive Colon Adenocarcinoma semapv:UnspecifiedMatching MONDO:0002496 submucosal invasive colon adenocarcinoma skos:exactMatch UMLS:C1515024 semapv:UnspecifiedMatching MONDO:0002501 brain glioblastoma skos:exactMatch DOID:3073 brain glioblastoma multiforme semapv:UnspecifiedMatching MONDO:0002501 brain glioblastoma skos:exactMatch EFO:0006545 semapv:UnspecifiedMatching MONDO:0002501 brain glioblastoma skos:exactMatch MEDGEN:138100 semapv:UnspecifiedMatching MONDO:0002501 brain glioblastoma skos:exactMatch NCIT:C4642 Brain Glioblastoma semapv:UnspecifiedMatching MONDO:0002501 brain glioblastoma skos:exactMatch SCTID:276828006 semapv:UnspecifiedMatching MONDO:0002501 brain glioblastoma skos:exactMatch UMLS:C0349543 semapv:UnspecifiedMatching MONDO:0002503 adult astrocytic tumor skos:exactMatch DOID:3076 adult astrocytic tumor semapv:UnspecifiedMatching MONDO:0002503 adult astrocytic tumor skos:exactMatch MEDGEN:272290 semapv:UnspecifiedMatching MONDO:0002503 adult astrocytic tumor skos:exactMatch NCIT:C7049 Adult Astrocytic Tumor semapv:UnspecifiedMatching MONDO:0002503 adult astrocytic tumor skos:exactMatch UMLS:C1332183 semapv:UnspecifiedMatching MONDO:0002505 childhood astrocytic tumor skos:exactMatch DOID:3079 childhood astrocytic tumor semapv:UnspecifiedMatching MONDO:0002505 childhood astrocytic tumor skos:exactMatch MEDGEN:272112 semapv:UnspecifiedMatching MONDO:0002505 childhood astrocytic tumor skos:exactMatch NCIT:C9022 Childhood Astrocytic Tumor semapv:UnspecifiedMatching MONDO:0002505 childhood astrocytic tumor skos:exactMatch UMLS:C1321865 semapv:UnspecifiedMatching MONDO:0002507 gingival overgrowth skos:exactMatch DOID:3086 gingival overgrowth semapv:UnspecifiedMatching MONDO:0002507 gingival overgrowth skos:exactMatch ICD10CM:K06.1 Gingival enlargement semapv:UnspecifiedMatching MONDO:0002507 gingival overgrowth skos:exactMatch MEDGEN:87712 semapv:UnspecifiedMatching MONDO:0002507 gingival overgrowth skos:exactMatch SCTID:54711002 semapv:UnspecifiedMatching MONDO:0002507 gingival overgrowth skos:exactMatch UMLS:C0376480 semapv:UnspecifiedMatching MONDO:0002507 gingival overgrowth skos:exactMatch mesh:D019214 semapv:UnspecifiedMatching MONDO:0002508 gingivitis skos:exactMatch DOID:3087 gingivitis semapv:UnspecifiedMatching MONDO:0002508 gingivitis skos:exactMatch MEDGEN:4895 semapv:UnspecifiedMatching MONDO:0002508 gingivitis skos:exactMatch NCIT:C34636 Gingivitis semapv:UnspecifiedMatching MONDO:0002508 gingivitis skos:exactMatch SCTID:66383009 semapv:UnspecifiedMatching MONDO:0002508 gingivitis skos:exactMatch UMLS:C0017574 semapv:UnspecifiedMatching MONDO:0002508 gingivitis skos:exactMatch mesh:D005891 semapv:UnspecifiedMatching MONDO:0002509 non-specific granulomatous orchitis skos:exactMatch DOID:3089 granulomatous orchitis semapv:UnspecifiedMatching MONDO:0002509 non-specific granulomatous orchitis skos:exactMatch MEDGEN:98504 semapv:UnspecifiedMatching MONDO:0002509 non-specific granulomatous orchitis skos:exactMatch NCIT:C27162 Non-Specific Granulomatous Orchitis semapv:UnspecifiedMatching MONDO:0002509 non-specific granulomatous orchitis skos:exactMatch SCTID:50390006 semapv:UnspecifiedMatching MONDO:0002509 non-specific granulomatous orchitis skos:exactMatch UMLS:C0436545 semapv:UnspecifiedMatching MONDO:0002510 obsolete germ cell and embryonal cancer skos:exactMatch DOID:3095 germ cell and embryonal cancer semapv:UnspecifiedMatching MONDO:0002510 obsolete germ cell and embryonal cancer skos:exactMatch mesh:D009373 semapv:UnspecifiedMatching MONDO:0002511 stenosis of lacrimal sac skos:exactMatch DOID:3096 stenosis of lacrimal sac semapv:UnspecifiedMatching MONDO:0002511 stenosis of lacrimal sac skos:exactMatch ICD10CM:H04.57 Stenosis of lacrimal sac semapv:UnspecifiedMatching MONDO:0002511 stenosis of lacrimal sac skos:exactMatch MEDGEN:509871 semapv:UnspecifiedMatching MONDO:0002511 stenosis of lacrimal sac skos:exactMatch SCTID:11772001 semapv:UnspecifiedMatching MONDO:0002511 stenosis of lacrimal sac skos:exactMatch UMLS:C0155246 semapv:UnspecifiedMatching MONDO:0002512 papillary adenocarcinoma skos:exactMatch DOID:3112 papillary adenocarcinoma semapv:UnspecifiedMatching MONDO:0002512 papillary adenocarcinoma skos:exactMatch MEDGEN:123 semapv:UnspecifiedMatching MONDO:0002512 papillary adenocarcinoma skos:exactMatch NCIT:C2853 Papillary Adenocarcinoma semapv:UnspecifiedMatching MONDO:0002512 papillary adenocarcinoma skos:exactMatch UMLS:C0001420 semapv:UnspecifiedMatching MONDO:0002512 papillary adenocarcinoma skos:exactMatch mesh:D000231 semapv:UnspecifiedMatching MONDO:0002513 kidney benign neoplasm skos:exactMatch DOID:3116 kidney benign neoplasm semapv:UnspecifiedMatching MONDO:0002513 kidney benign neoplasm skos:exactMatch ICD10CM:D30.0 Benign neoplasm of kidney semapv:UnspecifiedMatching MONDO:0002513 kidney benign neoplasm skos:exactMatch MEDGEN:96926 semapv:UnspecifiedMatching MONDO:0002513 kidney benign neoplasm skos:exactMatch NCIT:C4778 Benign Kidney Neoplasm semapv:UnspecifiedMatching MONDO:0002513 kidney benign neoplasm skos:exactMatch SCTID:92165001 semapv:UnspecifiedMatching MONDO:0002513 kidney benign neoplasm skos:exactMatch UMLS:C0496892 semapv:UnspecifiedMatching MONDO:0002514 hepatobiliary neoplasm skos:exactMatch DOID:0080355 hepatobiliary system cancer semapv:UnspecifiedMatching MONDO:0002514 hepatobiliary neoplasm skos:exactMatch EFO:0008550 semapv:UnspecifiedMatching MONDO:0002514 hepatobiliary neoplasm skos:exactMatch MEDGEN:208891 semapv:UnspecifiedMatching MONDO:0002514 hepatobiliary neoplasm skos:exactMatch NCIT:C8614 Hepatobiliary Neoplasm semapv:UnspecifiedMatching MONDO:0002514 hepatobiliary neoplasm skos:exactMatch UMLS:C0854196 semapv:UnspecifiedMatching MONDO:0002515 hepatobiliary disorder skos:exactMatch DOID:3118 hepatobiliary disease semapv:UnspecifiedMatching MONDO:0002515 hepatobiliary disorder skos:exactMatch EFO:0010284 semapv:UnspecifiedMatching MONDO:0002515 hepatobiliary disorder skos:exactMatch MEDGEN:82758 semapv:UnspecifiedMatching MONDO:0002515 hepatobiliary disorder skos:exactMatch NCIT:C3959 Hepatobiliary Disorder semapv:UnspecifiedMatching MONDO:0002515 hepatobiliary disorder skos:exactMatch UMLS:C0267792 semapv:UnspecifiedMatching MONDO:0002516 digestive system cancer skos:exactMatch DOID:3119 gastrointestinal system cancer semapv:UnspecifiedMatching MONDO:0002516 digestive system cancer skos:exactMatch ICD10CM:C15-C26 Malignant neoplasms of digestive organs (C15-C26) semapv:UnspecifiedMatching MONDO:0002516 digestive system cancer skos:exactMatch MEDGEN:148231 semapv:UnspecifiedMatching MONDO:0002516 digestive system cancer skos:exactMatch NCIT:C4890 Malignant Digestive System Neoplasm semapv:UnspecifiedMatching MONDO:0002516 digestive system cancer skos:exactMatch UMLS:C0751075 semapv:UnspecifiedMatching MONDO:0002517 tenosynovitis of foot and ankle skos:exactMatch DOID:312 tenosynovitis of foot and ankle semapv:UnspecifiedMatching MONDO:0002517 tenosynovitis of foot and ankle skos:exactMatch MEDGEN:1843483 semapv:UnspecifiedMatching MONDO:0002517 tenosynovitis of foot and ankle skos:exactMatch UMLS:C0158331 semapv:UnspecifiedMatching MONDO:0002518 gallbladder papillary neoplasm skos:exactMatch DOID:3120 gallbladder papillomatosis semapv:UnspecifiedMatching MONDO:0002518 gallbladder papillary neoplasm skos:exactMatch MEDGEN:234293 semapv:UnspecifiedMatching MONDO:0002518 gallbladder papillary neoplasm skos:exactMatch NCIT:C7130 Gallbladder Intracholecystic Papillary Neoplasm semapv:UnspecifiedMatching MONDO:0002518 gallbladder papillary neoplasm skos:exactMatch UMLS:C1333754 semapv:UnspecifiedMatching MONDO:0002519 anus disorder skos:exactMatch DOID:3128 anus disease semapv:UnspecifiedMatching MONDO:0002519 anus disorder skos:exactMatch EFO:0009660 semapv:UnspecifiedMatching MONDO:0002519 anus disorder skos:exactMatch MEDGEN:359 semapv:UnspecifiedMatching MONDO:0002519 anus disorder skos:exactMatch NCIT:C26695 Anal Disorder semapv:UnspecifiedMatching MONDO:0002519 anus disorder skos:exactMatch SCTID:32110003 semapv:UnspecifiedMatching MONDO:0002519 anus disorder skos:exactMatch UMLS:C0003462 semapv:UnspecifiedMatching MONDO:0002519 anus disorder skos:exactMatch mesh:D001004 semapv:UnspecifiedMatching MONDO:0002520 hepatic porphyria skos:exactMatch DOID:3133 acute porphyria semapv:UnspecifiedMatching MONDO:0002520 hepatic porphyria skos:exactMatch MEDGEN:58119 semapv:UnspecifiedMatching MONDO:0002520 hepatic porphyria skos:exactMatch Orphanet:659694 Hepatic porphyria semapv:UnspecifiedMatching MONDO:0002520 hepatic porphyria skos:exactMatch SCTID:55056006 semapv:UnspecifiedMatching MONDO:0002520 hepatic porphyria skos:exactMatch UMLS:C0162533 semapv:UnspecifiedMatching MONDO:0002520 hepatic porphyria skos:exactMatch mesh:D017094 semapv:UnspecifiedMatching MONDO:0002522 tenosynovial giant cell tumor skos:exactMatch DOID:314 tenosynovial giant cell tumor semapv:UnspecifiedMatching MONDO:0002522 tenosynovial giant cell tumor skos:exactMatch EFO:1000562 semapv:UnspecifiedMatching MONDO:0002522 tenosynovial giant cell tumor skos:exactMatch MEDGEN:232927 semapv:UnspecifiedMatching MONDO:0002522 tenosynovial giant cell tumor skos:exactMatch NCIT:C3402 Tenosynovial Giant Cell Tumor semapv:UnspecifiedMatching MONDO:0002522 tenosynovial giant cell tumor skos:exactMatch SCTID:310605004 semapv:UnspecifiedMatching MONDO:0002522 tenosynovial giant cell tumor skos:exactMatch UMLS:C1318543 semapv:UnspecifiedMatching MONDO:0002523 cutaneous mucinosis skos:exactMatch DOID:3141 mucinoses semapv:UnspecifiedMatching MONDO:0002523 cutaneous mucinosis skos:exactMatch MEDGEN:56520 semapv:UnspecifiedMatching MONDO:0002523 cutaneous mucinosis skos:exactMatch SCTID:402721001 semapv:UnspecifiedMatching MONDO:0002523 cutaneous mucinosis skos:exactMatch UMLS:C0162855 semapv:UnspecifiedMatching MONDO:0002523 cutaneous mucinosis skos:exactMatch icd11.foundation:2018255084 Cutaneous mucinosis semapv:UnspecifiedMatching MONDO:0002523 cutaneous mucinosis skos:exactMatch mesh:D017520 semapv:UnspecifiedMatching MONDO:0002525 inherited lipid metabolism disorder skos:exactMatch DOID:3146 lipid metabolism disorder semapv:UnspecifiedMatching MONDO:0002525 inherited lipid metabolism disorder skos:exactMatch MEDGEN:57587 semapv:UnspecifiedMatching MONDO:0002525 inherited lipid metabolism disorder skos:exactMatch NCIT:C97092 Lipid Metabolism Disorder semapv:UnspecifiedMatching MONDO:0002525 inherited lipid metabolism disorder skos:exactMatch Orphanet:309005 Disorder of lipid metabolism semapv:UnspecifiedMatching MONDO:0002525 inherited lipid metabolism disorder skos:exactMatch SCTID:267431006 semapv:UnspecifiedMatching MONDO:0002525 inherited lipid metabolism disorder skos:exactMatch SCTID:402788005 semapv:UnspecifiedMatching MONDO:0002525 inherited lipid metabolism disorder skos:exactMatch UMLS:C0154251 semapv:UnspecifiedMatching MONDO:0002526 dermal unilateral segmental cavernous angioma skos:exactMatch DOID:3148 dermal unilateral segmental cavernous angioma semapv:UnspecifiedMatching MONDO:0002526 dermal unilateral segmental cavernous angioma skos:exactMatch MEDGEN:634347 semapv:UnspecifiedMatching MONDO:0002526 dermal unilateral segmental cavernous angioma skos:exactMatch UMLS:C0474966 semapv:UnspecifiedMatching MONDO:0002527 keratoacanthoma skos:exactMatch DOID:3149 keratoacanthoma semapv:UnspecifiedMatching MONDO:0002527 keratoacanthoma skos:exactMatch MEDGEN:5954 semapv:UnspecifiedMatching MONDO:0002527 keratoacanthoma skos:exactMatch NCIT:C3146 Skin Keratoacanthoma semapv:UnspecifiedMatching MONDO:0002527 keratoacanthoma skos:exactMatch SCTID:254662007 semapv:UnspecifiedMatching MONDO:0002527 keratoacanthoma skos:exactMatch UMLS:C0022572 semapv:UnspecifiedMatching MONDO:0002527 keratoacanthoma skos:exactMatch icd11.foundation:516478127 Keratoacanthoma semapv:UnspecifiedMatching MONDO:0002527 keratoacanthoma skos:exactMatch mesh:D007636 semapv:UnspecifiedMatching MONDO:0002528 synovium neoplasm skos:exactMatch DOID:315 synovium neoplasm semapv:UnspecifiedMatching MONDO:0002528 synovium neoplasm skos:exactMatch MEDGEN:99197 semapv:UnspecifiedMatching MONDO:0002528 synovium neoplasm skos:exactMatch NCIT:C8964 Synovial Neoplasm semapv:UnspecifiedMatching MONDO:0002528 synovium neoplasm skos:exactMatch UMLS:C0476203 semapv:UnspecifiedMatching MONDO:0002529 skin squamous cell carcinoma skos:exactMatch DOID:3151 skin squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0002529 skin squamous cell carcinoma skos:exactMatch MEDGEN:107512 semapv:UnspecifiedMatching MONDO:0002529 skin squamous cell carcinoma skos:exactMatch NCIT:C4819 Skin Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0002529 skin squamous cell carcinoma skos:exactMatch SCTID:254651007 semapv:UnspecifiedMatching MONDO:0002529 skin squamous cell carcinoma skos:exactMatch UMLS:C0553723 semapv:UnspecifiedMatching MONDO:0002529 skin squamous cell carcinoma skos:exactMatch icd11.foundation:1448983042 Squamous cell carcinoma of skin semapv:UnspecifiedMatching MONDO:0002531 skin neoplasm skos:exactMatch DOID:3165 skin benign neoplasm semapv:UnspecifiedMatching MONDO:0002531 skin neoplasm skos:exactMatch EFO:0004198 semapv:UnspecifiedMatching MONDO:0002531 skin neoplasm skos:exactMatch MEDGEN:19993 semapv:UnspecifiedMatching MONDO:0002531 skin neoplasm skos:exactMatch NCIT:C3372 Skin Neoplasm semapv:UnspecifiedMatching MONDO:0002531 skin neoplasm skos:exactMatch SCTID:126488004 semapv:UnspecifiedMatching MONDO:0002531 skin neoplasm skos:exactMatch UMLS:C0037286 semapv:UnspecifiedMatching MONDO:0002531 skin neoplasm skos:exactMatch mesh:D012878 semapv:UnspecifiedMatching MONDO:0002532 squamous cell neoplasm skos:exactMatch DOID:3168 squamous cell neoplasm semapv:UnspecifiedMatching MONDO:0002532 squamous cell neoplasm skos:exactMatch MEDGEN:60219 semapv:UnspecifiedMatching MONDO:0002532 squamous cell neoplasm skos:exactMatch NCIT:C3792 Squamous Cell Neoplasm semapv:UnspecifiedMatching MONDO:0002532 squamous cell neoplasm skos:exactMatch UMLS:C0206720 semapv:UnspecifiedMatching MONDO:0002532 squamous cell neoplasm skos:exactMatch mesh:D018307 semapv:UnspecifiedMatching MONDO:0002533 papillary adenoma skos:exactMatch DOID:3172 papillary adenoma semapv:UnspecifiedMatching MONDO:0002533 papillary adenoma skos:exactMatch MEDGEN:59999 semapv:UnspecifiedMatching MONDO:0002533 papillary adenoma skos:exactMatch NCIT:C79951 Papillary Adenoma semapv:UnspecifiedMatching MONDO:0002533 papillary adenoma skos:exactMatch UMLS:C0205650 semapv:UnspecifiedMatching MONDO:0002534 fallopian tube papilloma skos:exactMatch DOID:3173 fallopian tube serous papilloma semapv:UnspecifiedMatching MONDO:0002534 fallopian tube papilloma skos:exactMatch MEDGEN:275874 semapv:UnspecifiedMatching MONDO:0002534 fallopian tube papilloma skos:exactMatch NCIT:C40112 Fallopian Tube Serous Papilloma semapv:UnspecifiedMatching MONDO:0002534 fallopian tube papilloma skos:exactMatch UMLS:C1517123 semapv:UnspecifiedMatching MONDO:0002535 verrucous papilloma skos:exactMatch DOID:3177 verrucous papilloma semapv:UnspecifiedMatching MONDO:0002535 verrucous papilloma skos:exactMatch MEDGEN:83114 semapv:UnspecifiedMatching MONDO:0002535 verrucous papilloma skos:exactMatch NCIT:C4101 Verrucous Papilloma semapv:UnspecifiedMatching MONDO:0002535 verrucous papilloma skos:exactMatch UMLS:C0334243 semapv:UnspecifiedMatching MONDO:0002536 skin papilloma skos:exactMatch DOID:3178 skin papilloma semapv:UnspecifiedMatching MONDO:0002536 skin papilloma skos:exactMatch MEDGEN:91127 semapv:UnspecifiedMatching MONDO:0002536 skin papilloma skos:exactMatch NCIT:C4614 Skin Papilloma semapv:UnspecifiedMatching MONDO:0002536 skin papilloma skos:exactMatch SCTID:255184001 semapv:UnspecifiedMatching MONDO:0002536 skin papilloma skos:exactMatch UMLS:C0347390 semapv:UnspecifiedMatching MONDO:0002537 inverted papilloma skos:exactMatch DOID:3179 inverted papilloma semapv:UnspecifiedMatching MONDO:0002537 inverted papilloma skos:exactMatch MEDGEN:61668 semapv:UnspecifiedMatching MONDO:0002537 inverted papilloma skos:exactMatch NCIT:C3793 Inverted Papilloma semapv:UnspecifiedMatching MONDO:0002537 inverted papilloma skos:exactMatch SCTID:104081000119103 semapv:UnspecifiedMatching MONDO:0002537 inverted papilloma skos:exactMatch UMLS:C0206721 semapv:UnspecifiedMatching MONDO:0002537 inverted papilloma skos:exactMatch mesh:D018308 semapv:UnspecifiedMatching MONDO:0002540 childhood oligodendroglioma skos:exactMatch DOID:3183 childhood oligodendroglioma semapv:UnspecifiedMatching MONDO:0002540 childhood oligodendroglioma skos:exactMatch MEDGEN:76116 semapv:UnspecifiedMatching MONDO:0002540 childhood oligodendroglioma skos:exactMatch NCIT:C4045 Childhood Oligodendroglioma semapv:UnspecifiedMatching MONDO:0002540 childhood oligodendroglioma skos:exactMatch UMLS:C0280475 semapv:UnspecifiedMatching MONDO:0002541 spinal cord oligodendroglioma skos:exactMatch DOID:3184 spinal cord oligodendroglioma semapv:UnspecifiedMatching MONDO:0002541 spinal cord oligodendroglioma skos:exactMatch MEDGEN:138055 semapv:UnspecifiedMatching MONDO:0002541 spinal cord oligodendroglioma skos:exactMatch NCIT:C4535 Spinal Cord Oligodendroglioma semapv:UnspecifiedMatching MONDO:0002541 spinal cord oligodendroglioma skos:exactMatch SCTID:254950006 semapv:UnspecifiedMatching MONDO:0002541 spinal cord oligodendroglioma skos:exactMatch UMLS:C0346295 semapv:UnspecifiedMatching MONDO:0002542 spinal cord glioma skos:exactMatch DOID:3185 spinal cord glioma semapv:UnspecifiedMatching MONDO:0002542 spinal cord glioma skos:exactMatch MEDGEN:423646 semapv:UnspecifiedMatching MONDO:0002542 spinal cord glioma skos:exactMatch NCIT:C4534 Spinal Cord Glioma semapv:UnspecifiedMatching MONDO:0002542 spinal cord glioma skos:exactMatch SCTID:254946004 semapv:UnspecifiedMatching MONDO:0002542 spinal cord glioma skos:exactMatch UMLS:C2937245 semapv:UnspecifiedMatching MONDO:0002543 adult oligodendroglioma skos:exactMatch DOID:3186 adult oligodendroglioma semapv:UnspecifiedMatching MONDO:0002543 adult oligodendroglioma skos:exactMatch MEDGEN:75924 semapv:UnspecifiedMatching MONDO:0002543 adult oligodendroglioma skos:exactMatch NCIT:C4014 Adult Oligodendroglioma semapv:UnspecifiedMatching MONDO:0002543 adult oligodendroglioma skos:exactMatch UMLS:C0279070 semapv:UnspecifiedMatching MONDO:0002544 brain oligodendroglioma skos:exactMatch DOID:3187 brain oligodendroglioma semapv:UnspecifiedMatching MONDO:0002544 brain oligodendroglioma skos:exactMatch MEDGEN:91095 semapv:UnspecifiedMatching MONDO:0002544 brain oligodendroglioma skos:exactMatch NCIT:C9377 Brain Oligodendroglioma semapv:UnspecifiedMatching MONDO:0002544 brain oligodendroglioma skos:exactMatch SCTID:254940005 semapv:UnspecifiedMatching MONDO:0002544 brain oligodendroglioma skos:exactMatch UMLS:C0346286 semapv:UnspecifiedMatching MONDO:0002545 spinal cord disorder skos:exactMatch DOID:319 spinal cord disease semapv:UnspecifiedMatching MONDO:0002545 spinal cord disorder skos:exactMatch EFO:0009488 semapv:UnspecifiedMatching MONDO:0002545 spinal cord disorder skos:exactMatch MEDGEN:11550 semapv:UnspecifiedMatching MONDO:0002545 spinal cord disorder skos:exactMatch NCIT:C97110 Spinal Cord Disorder semapv:UnspecifiedMatching MONDO:0002545 spinal cord disorder skos:exactMatch SCTID:48522003 semapv:UnspecifiedMatching MONDO:0002545 spinal cord disorder skos:exactMatch UMLS:C0037928 semapv:UnspecifiedMatching MONDO:0002545 spinal cord disorder skos:exactMatch mesh:D013118 semapv:UnspecifiedMatching MONDO:0002546 schwannoma skos:exactMatch DOID:3192 neurilemmoma semapv:UnspecifiedMatching MONDO:0002546 schwannoma skos:exactMatch DOID:955 obsolete benign neurilemmoma semapv:UnspecifiedMatching MONDO:0002546 schwannoma skos:exactMatch EFO:0000693 semapv:UnspecifiedMatching MONDO:0002546 schwannoma skos:exactMatch MEDGEN:45053 semapv:UnspecifiedMatching MONDO:0002546 schwannoma skos:exactMatch NCIT:C3269 Schwannoma semapv:UnspecifiedMatching MONDO:0002546 schwannoma skos:exactMatch Orphanet:252164 Benign schwannoma semapv:UnspecifiedMatching MONDO:0002546 schwannoma skos:exactMatch SCTID:404022001 semapv:UnspecifiedMatching MONDO:0002546 schwannoma skos:exactMatch UMLS:C0027809 semapv:UnspecifiedMatching MONDO:0002546 schwannoma skos:exactMatch icd11.foundation:378766741 Benign schwannoma semapv:UnspecifiedMatching MONDO:0002547 nerve sheath neoplasm skos:exactMatch DOID:3193 peripheral nerve sheath neoplasm semapv:UnspecifiedMatching MONDO:0002547 nerve sheath neoplasm skos:exactMatch MEDGEN:64639 semapv:UnspecifiedMatching MONDO:0002547 nerve sheath neoplasm skos:exactMatch NCIT:C4972 Nerve Sheath Neoplasm semapv:UnspecifiedMatching MONDO:0002547 nerve sheath neoplasm skos:exactMatch UMLS:C0206727 semapv:UnspecifiedMatching MONDO:0002547 nerve sheath neoplasm skos:exactMatch mesh:D018317 semapv:UnspecifiedMatching MONDO:0002548 cellular schwannoma skos:exactMatch DOID:3196 cellular schwannoma semapv:UnspecifiedMatching MONDO:0002548 cellular schwannoma skos:exactMatch MEDGEN:98124 semapv:UnspecifiedMatching MONDO:0002548 cellular schwannoma skos:exactMatch NCIT:C4724 Cellular Schwannoma semapv:UnspecifiedMatching MONDO:0002548 cellular schwannoma skos:exactMatch SCTID:404026003 semapv:UnspecifiedMatching MONDO:0002548 cellular schwannoma skos:exactMatch UMLS:C0431124 semapv:UnspecifiedMatching MONDO:0002549 schwannoma of twelfth cranial nerve skos:exactMatch DOID:3197 schwannoma of twelfth cranial nerve semapv:UnspecifiedMatching MONDO:0002549 schwannoma of twelfth cranial nerve skos:exactMatch MEDGEN:235581 semapv:UnspecifiedMatching MONDO:0002549 schwannoma of twelfth cranial nerve skos:exactMatch NCIT:C5434 Hypoglossal Nerve Schwannoma semapv:UnspecifiedMatching MONDO:0002549 schwannoma of twelfth cranial nerve skos:exactMatch UMLS:C1335928 semapv:UnspecifiedMatching MONDO:0002550 hypoglossal nerve neoplasm skos:exactMatch DOID:3198 hypoglossal nerve neoplasm semapv:UnspecifiedMatching MONDO:0002550 hypoglossal nerve neoplasm skos:exactMatch MEDGEN:220392 semapv:UnspecifiedMatching MONDO:0002550 hypoglossal nerve neoplasm skos:exactMatch NCIT:C5830 Hypoglossal Nerve Neoplasm semapv:UnspecifiedMatching MONDO:0002550 hypoglossal nerve neoplasm skos:exactMatch SCTID:126978008 semapv:UnspecifiedMatching MONDO:0002550 hypoglossal nerve neoplasm skos:exactMatch UMLS:C1263903 semapv:UnspecifiedMatching MONDO:0002551 c-P angle neurinoma skos:exactMatch DOID:3199 C-P angle neurinoma semapv:UnspecifiedMatching MONDO:0002551 c-P angle neurinoma skos:exactMatch MEDGEN:232046 semapv:UnspecifiedMatching MONDO:0002551 c-P angle neurinoma skos:exactMatch NCIT:C5413 Cerebellopontine Angle Schwannoma semapv:UnspecifiedMatching MONDO:0002551 c-P angle neurinoma skos:exactMatch UMLS:C1332905 semapv:UnspecifiedMatching MONDO:0002552 vascular myelopathy skos:exactMatch DOID:320 vascular myelopathy semapv:UnspecifiedMatching MONDO:0002552 vascular myelopathy skos:exactMatch ICD10CM:G95.1 Vascular myelopathies semapv:UnspecifiedMatching MONDO:0002552 vascular myelopathy skos:exactMatch MEDGEN:509629 semapv:UnspecifiedMatching MONDO:0002552 vascular myelopathy skos:exactMatch SCTID:29774004 semapv:UnspecifiedMatching MONDO:0002552 vascular myelopathy skos:exactMatch UMLS:C0154685 semapv:UnspecifiedMatching MONDO:0002553 cerebellopontine angle tumor skos:exactMatch DOID:3200 cerebellopontine angle tumor semapv:UnspecifiedMatching MONDO:0002553 cerebellopontine angle tumor skos:exactMatch MEDGEN:99181 semapv:UnspecifiedMatching MONDO:0002553 cerebellopontine angle tumor skos:exactMatch NCIT:C5414 Cerebellopontine Angle Neoplasm semapv:UnspecifiedMatching MONDO:0002553 cerebellopontine angle tumor skos:exactMatch SCTID:126947009 semapv:UnspecifiedMatching MONDO:0002553 cerebellopontine angle tumor skos:exactMatch UMLS:C0474740 semapv:UnspecifiedMatching MONDO:0002554 sympathetic neurilemmoma skos:exactMatch DOID:3201 sympathetic neurilemmoma semapv:UnspecifiedMatching MONDO:0002554 sympathetic neurilemmoma skos:exactMatch MEDGEN:236964 semapv:UnspecifiedMatching MONDO:0002554 sympathetic neurilemmoma skos:exactMatch NCIT:C5421 Sympathetic Schwannoma semapv:UnspecifiedMatching MONDO:0002554 sympathetic neurilemmoma skos:exactMatch UMLS:C1336543 semapv:UnspecifiedMatching MONDO:0002555 trigeminal schwannoma skos:exactMatch DOID:3202 neurilemmoma of the fifth cranial nerve semapv:UnspecifiedMatching MONDO:0002555 trigeminal schwannoma skos:exactMatch MEDGEN:83890 semapv:UnspecifiedMatching MONDO:0002555 trigeminal schwannoma skos:exactMatch NCIT:C4655 Trigeminal Schwannoma semapv:UnspecifiedMatching MONDO:0002555 trigeminal schwannoma skos:exactMatch SCTID:277185000 semapv:UnspecifiedMatching MONDO:0002555 trigeminal schwannoma skos:exactMatch UMLS:C0349582 semapv:UnspecifiedMatching MONDO:0002556 microcystic/reticular schwannoma skos:exactMatch MEDGEN:882329 semapv:UnspecifiedMatching MONDO:0002556 microcystic/reticular schwannoma skos:exactMatch NCIT:C5321 Microcystic/Reticular Schwannoma semapv:UnspecifiedMatching MONDO:0002556 microcystic/reticular schwannoma skos:exactMatch UMLS:C4054526 semapv:UnspecifiedMatching MONDO:0002558 melanotic neurilemmoma skos:exactMatch DOID:3205 melanotic neurilemmoma semapv:UnspecifiedMatching MONDO:0002558 melanotic neurilemmoma skos:exactMatch MEDGEN:266292 semapv:UnspecifiedMatching MONDO:0002558 melanotic neurilemmoma skos:exactMatch NCIT:C6970 Melanotic Schwannoma semapv:UnspecifiedMatching MONDO:0002558 melanotic neurilemmoma skos:exactMatch SCTID:404024000 semapv:UnspecifiedMatching MONDO:0002558 melanotic neurilemmoma skos:exactMatch UMLS:C1306247 semapv:UnspecifiedMatching MONDO:0002559 plexiform schwannoma skos:exactMatch DOID:3206 plexiform schwannoma semapv:UnspecifiedMatching MONDO:0002559 plexiform schwannoma skos:exactMatch MEDGEN:277972 semapv:UnspecifiedMatching MONDO:0002559 plexiform schwannoma skos:exactMatch NCIT:C6969 Plexiform Schwannoma semapv:UnspecifiedMatching MONDO:0002559 plexiform schwannoma skos:exactMatch SCTID:404025004 semapv:UnspecifiedMatching MONDO:0002559 plexiform schwannoma skos:exactMatch UMLS:C1370659 semapv:UnspecifiedMatching MONDO:0002561 lysosomal storage disease skos:exactMatch DOID:3211 lysosomal storage disease semapv:UnspecifiedMatching MONDO:0002561 lysosomal storage disease skos:exactMatch MEDGEN:43098 semapv:UnspecifiedMatching MONDO:0002561 lysosomal storage disease skos:exactMatch NCIT:C61250 Lysosomal Storage Disease semapv:UnspecifiedMatching MONDO:0002561 lysosomal storage disease skos:exactMatch Orphanet:68366 Lysosomal disease semapv:UnspecifiedMatching MONDO:0002561 lysosomal storage disease skos:exactMatch SCTID:23585005 semapv:UnspecifiedMatching MONDO:0002561 lysosomal storage disease skos:exactMatch SCTID:28821000119102 semapv:UnspecifiedMatching MONDO:0002561 lysosomal storage disease skos:exactMatch UMLS:C0085078 semapv:UnspecifiedMatching MONDO:0002561 lysosomal storage disease skos:exactMatch icd11.foundation:656131403 Lysosomal diseases semapv:UnspecifiedMatching MONDO:0002561 lysosomal storage disease skos:exactMatch mesh:D016464 semapv:UnspecifiedMatching MONDO:0002562 demyelinating disease skos:exactMatch DOID:3213 demyelinating disease semapv:UnspecifiedMatching MONDO:0002562 demyelinating disease skos:exactMatch MEDGEN:4189 semapv:UnspecifiedMatching MONDO:0002562 demyelinating disease skos:exactMatch NCIT:C34527 Demyelinating Disorder semapv:UnspecifiedMatching MONDO:0002562 demyelinating disease skos:exactMatch UMLS:C0011303 semapv:UnspecifiedMatching MONDO:0002562 demyelinating disease skos:exactMatch mesh:D003711 semapv:UnspecifiedMatching MONDO:0002563 jejunal somatostatinoma skos:exactMatch DOID:3216 jejunal somatostatinoma semapv:UnspecifiedMatching MONDO:0002563 jejunal somatostatinoma skos:exactMatch MEDGEN:233585 semapv:UnspecifiedMatching MONDO:0002563 jejunal somatostatinoma skos:exactMatch NCIT:C5787 Jejunal Somatostatin-Producing Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO:0002563 jejunal somatostatinoma skos:exactMatch UMLS:C1334297 semapv:UnspecifiedMatching MONDO:0002564 jejunal neoplasm skos:exactMatch DOID:3218 jejunal neoplasm semapv:UnspecifiedMatching MONDO:0002564 jejunal neoplasm skos:exactMatch MEDGEN:7187 semapv:UnspecifiedMatching MONDO:0002564 jejunal neoplasm skos:exactMatch NCIT:C8401 Jejunal Neoplasm semapv:UnspecifiedMatching MONDO:0002564 jejunal neoplasm skos:exactMatch SCTID:126834003 semapv:UnspecifiedMatching MONDO:0002564 jejunal neoplasm skos:exactMatch UMLS:C0022374 semapv:UnspecifiedMatching MONDO:0002564 jejunal neoplasm skos:exactMatch mesh:D007580 semapv:UnspecifiedMatching MONDO:0002565 myelitis skos:exactMatch DOID:322 myelitis semapv:UnspecifiedMatching MONDO:0002565 myelitis skos:exactMatch EFO:1001472 semapv:UnspecifiedMatching MONDO:0002565 myelitis skos:exactMatch MEDGEN:10230 semapv:UnspecifiedMatching MONDO:0002565 myelitis skos:exactMatch NCIT:C26832 Myelitis semapv:UnspecifiedMatching MONDO:0002565 myelitis skos:exactMatch SCTID:41370002 semapv:UnspecifiedMatching MONDO:0002565 myelitis skos:exactMatch UMLS:C0026975 semapv:UnspecifiedMatching MONDO:0002565 myelitis skos:exactMatch icd11.foundation:1993728609 Myelitis semapv:UnspecifiedMatching MONDO:0002565 myelitis skos:exactMatch mesh:D009187 semapv:UnspecifiedMatching MONDO:0002567 tracheal disorder skos:exactMatch DOID:3225 tracheal disease semapv:UnspecifiedMatching MONDO:0002567 tracheal disorder skos:exactMatch MEDGEN:892789 semapv:UnspecifiedMatching MONDO:0002567 tracheal disorder skos:exactMatch NCIT:C35079 Tracheal Disorder semapv:UnspecifiedMatching MONDO:0002567 tracheal disorder skos:exactMatch SCTID:47125007 semapv:UnspecifiedMatching MONDO:0002567 tracheal disorder skos:exactMatch UMLS:C4025678 semapv:UnspecifiedMatching MONDO:0002567 tracheal disorder skos:exactMatch mesh:D014133 semapv:UnspecifiedMatching MONDO:0002568 tracheal stenosis skos:exactMatch DOID:3227 tracheal stenosis semapv:UnspecifiedMatching MONDO:0002568 tracheal stenosis skos:exactMatch MEDGEN:21227 semapv:UnspecifiedMatching MONDO:0002568 tracheal stenosis skos:exactMatch NCIT:C78646 Tracheal Stenosis semapv:UnspecifiedMatching MONDO:0002568 tracheal stenosis skos:exactMatch SCTID:11296007 semapv:UnspecifiedMatching MONDO:0002568 tracheal stenosis skos:exactMatch UMLS:C0040583 semapv:UnspecifiedMatching MONDO:0002568 tracheal stenosis skos:exactMatch mesh:D014135 semapv:UnspecifiedMatching MONDO:0002569 gastric dilatation skos:exactMatch DOID:3229 gastric dilatation semapv:UnspecifiedMatching MONDO:0002569 gastric dilatation skos:exactMatch MEDGEN:11602 semapv:UnspecifiedMatching MONDO:0002569 gastric dilatation skos:exactMatch UMLS:C0038353 semapv:UnspecifiedMatching MONDO:0002569 gastric dilatation skos:exactMatch mesh:D013271 semapv:UnspecifiedMatching MONDO:0002570 high pressure neurological syndrome skos:exactMatch DOID:3230 high pressure neurological syndrome semapv:UnspecifiedMatching MONDO:0002570 high pressure neurological syndrome skos:exactMatch MEDGEN:5553 semapv:UnspecifiedMatching MONDO:0002570 high pressure neurological syndrome skos:exactMatch UMLS:C0019537 semapv:UnspecifiedMatching MONDO:0002570 high pressure neurological syndrome skos:exactMatch mesh:D006610 semapv:UnspecifiedMatching MONDO:0002571 primary central nervous system lymphoma skos:exactMatch DOID:3234 central nervous system lymphoma semapv:UnspecifiedMatching MONDO:0002571 primary central nervous system lymphoma skos:exactMatch EFO:1000157 semapv:UnspecifiedMatching MONDO:0002571 primary central nervous system lymphoma skos:exactMatch MEDGEN:79187 semapv:UnspecifiedMatching MONDO:0002571 primary central nervous system lymphoma skos:exactMatch NCIT:C9301 Primary Central Nervous System Lymphoma semapv:UnspecifiedMatching MONDO:0002571 primary central nervous system lymphoma skos:exactMatch Orphanet:46135 Primary central nervous system lymphoma semapv:UnspecifiedMatching MONDO:0002571 primary central nervous system lymphoma skos:exactMatch SCTID:307649006 semapv:UnspecifiedMatching MONDO:0002571 primary central nervous system lymphoma skos:exactMatch UMLS:C0280803 semapv:UnspecifiedMatching MONDO:0002571 primary central nervous system lymphoma skos:exactMatch icd11.foundation:1133193893 Primary central nervous system lymphoma semapv:UnspecifiedMatching MONDO:0002572 aspiration pneumonitis skos:exactMatch DOID:3240 aspiration pneumonitis semapv:UnspecifiedMatching MONDO:0002572 aspiration pneumonitis skos:exactMatch EFO:1001399 semapv:UnspecifiedMatching MONDO:0002572 aspiration pneumonitis skos:exactMatch MEDGEN:740734 semapv:UnspecifiedMatching MONDO:0002572 aspiration pneumonitis skos:exactMatch NCIT:C34932 Aspiration Pneumonitis semapv:UnspecifiedMatching MONDO:0002572 aspiration pneumonitis skos:exactMatch SCTID:155597006 semapv:UnspecifiedMatching MONDO:0002572 aspiration pneumonitis skos:exactMatch UMLS:C1761609 semapv:UnspecifiedMatching MONDO:0002574 prostate embryonal rhabdomyosarcoma skos:exactMatch DOID:3251 prostate embryonal rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0002574 prostate embryonal rhabdomyosarcoma skos:exactMatch MEDGEN:233873 semapv:UnspecifiedMatching MONDO:0002574 prostate embryonal rhabdomyosarcoma skos:exactMatch NCIT:C5525 Prostate Embryonal Rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0002574 prostate embryonal rhabdomyosarcoma skos:exactMatch UMLS:C1335508 semapv:UnspecifiedMatching MONDO:0002576 embryonal extrahepatic bile duct rhabdomyosarcoma skos:exactMatch DOID:3253 embryonal extrahepatic bile duct rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0002576 embryonal extrahepatic bile duct rhabdomyosarcoma skos:exactMatch MEDGEN:234244 semapv:UnspecifiedMatching MONDO:0002576 embryonal extrahepatic bile duct rhabdomyosarcoma skos:exactMatch NCIT:C5847 Extrahepatic Bile Duct Embryonal Rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0002576 embryonal extrahepatic bile duct rhabdomyosarcoma skos:exactMatch UMLS:C1333505 semapv:UnspecifiedMatching MONDO:0002577 extrahepatic bile duct rhabdomyosarcoma skos:exactMatch DOID:3254 bile duct rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0002577 extrahepatic bile duct rhabdomyosarcoma skos:exactMatch MEDGEN:473530 semapv:UnspecifiedMatching MONDO:0002577 extrahepatic bile duct rhabdomyosarcoma skos:exactMatch NCIT:C5860 Extrahepatic Bile Duct Rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0002577 extrahepatic bile duct rhabdomyosarcoma skos:exactMatch UMLS:C2064434 semapv:UnspecifiedMatching MONDO:0002578 botryoid rhabdomyosarcoma skos:exactMatch DOID:3255 botryoid rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0002578 botryoid rhabdomyosarcoma skos:exactMatch MEDGEN:727079 semapv:UnspecifiedMatching MONDO:0002578 botryoid rhabdomyosarcoma skos:exactMatch NCIT:C9150 Botryoid-Type Embryonal Rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0002578 botryoid rhabdomyosarcoma skos:exactMatch SCTID:404052009 semapv:UnspecifiedMatching MONDO:0002578 botryoid rhabdomyosarcoma skos:exactMatch UMLS:C1306574 semapv:UnspecifiedMatching MONDO:0002579 orbit embryonal rhabdomyosarcoma skos:exactMatch DOID:3258 orbit embryonal rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0002579 orbit embryonal rhabdomyosarcoma skos:exactMatch MEDGEN:233267 semapv:UnspecifiedMatching MONDO:0002579 orbit embryonal rhabdomyosarcoma skos:exactMatch NCIT:C6246 Orbital Embryonal Rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0002579 orbit embryonal rhabdomyosarcoma skos:exactMatch UMLS:C1335127 semapv:UnspecifiedMatching MONDO:0002580 orbit rhabdomyosarcoma skos:exactMatch DOID:3259 orbit rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0002580 orbit rhabdomyosarcoma skos:exactMatch MEDGEN:83419 semapv:UnspecifiedMatching MONDO:0002580 orbit rhabdomyosarcoma skos:exactMatch NCIT:C4543 Orbital Rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0002580 orbit rhabdomyosarcoma skos:exactMatch SCTID:254994000 semapv:UnspecifiedMatching MONDO:0002580 orbit rhabdomyosarcoma skos:exactMatch UMLS:C0346347 semapv:UnspecifiedMatching MONDO:0002580 orbit rhabdomyosarcoma skos:exactMatch mesh:C537605 semapv:UnspecifiedMatching MONDO:0002581 spindle cell rhabdomyosarcoma skos:exactMatch DOID:3260 spindle cell rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0002581 spindle cell rhabdomyosarcoma skos:exactMatch MEDGEN:224766 semapv:UnspecifiedMatching MONDO:0002581 spindle cell rhabdomyosarcoma skos:exactMatch NCIT:C6519 Spindle Cell Rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0002581 spindle cell rhabdomyosarcoma skos:exactMatch SCTID:404055006 semapv:UnspecifiedMatching MONDO:0002581 spindle cell rhabdomyosarcoma skos:exactMatch UMLS:C1266134 semapv:UnspecifiedMatching MONDO:0002582 subacute leukemia skos:exactMatch DOID:3264 subacute leukemia semapv:UnspecifiedMatching MONDO:0002582 subacute leukemia skos:exactMatch MEDGEN:509481 semapv:UnspecifiedMatching MONDO:0002582 subacute leukemia skos:exactMatch SCTID:302855005 semapv:UnspecifiedMatching MONDO:0002582 subacute leukemia skos:exactMatch UMLS:C0153924 semapv:UnspecifiedMatching MONDO:0002583 mucinous ovarian cystadenoma skos:exactMatch DOID:3267 mucinous ovarian cystadenoma semapv:UnspecifiedMatching MONDO:0002583 mucinous ovarian cystadenoma skos:exactMatch MEDGEN:91088 semapv:UnspecifiedMatching MONDO:0002583 mucinous ovarian cystadenoma skos:exactMatch NCIT:C4512 Ovarian Mucinous Cystadenoma semapv:UnspecifiedMatching MONDO:0002583 mucinous ovarian cystadenoma skos:exactMatch SCTID:119422004 semapv:UnspecifiedMatching MONDO:0002583 mucinous ovarian cystadenoma skos:exactMatch UMLS:C0346172 semapv:UnspecifiedMatching MONDO:0002585 breast fibrocystic change, proliferative type skos:exactMatch DOID:3274 proliferative type fibrocystic change of breast semapv:UnspecifiedMatching MONDO:0002585 breast fibrocystic change, proliferative type skos:exactMatch MEDGEN:231967 semapv:UnspecifiedMatching MONDO:0002585 breast fibrocystic change, proliferative type skos:exactMatch NCIT:C6940 Breast Fibrocystic Change, Proliferative Type semapv:UnspecifiedMatching MONDO:0002585 breast fibrocystic change, proliferative type skos:exactMatch UMLS:C1332629 semapv:UnspecifiedMatching MONDO:0002586 thymus cancer skos:exactMatch DOID:3277 thymus cancer semapv:UnspecifiedMatching MONDO:0002586 thymus cancer skos:exactMatch ICD10CM:C37 Malignant neoplasm of thymus semapv:UnspecifiedMatching MONDO:0002586 thymus cancer skos:exactMatch MEDGEN:155883 semapv:UnspecifiedMatching MONDO:0002586 thymus cancer skos:exactMatch NCIT:C4962 Malignant Thymus Neoplasm semapv:UnspecifiedMatching MONDO:0002586 thymus cancer skos:exactMatch SCTID:363434003 semapv:UnspecifiedMatching MONDO:0002586 thymus cancer skos:exactMatch UMLS:C0751552 semapv:UnspecifiedMatching MONDO:0002586 thymus cancer skos:exactMatch icd11.foundation:1718833206 Malignant neoplasms of thymus semapv:UnspecifiedMatching MONDO:0002587 encapsulated thymoma skos:exactMatch DOID:3278 encapsulated thymoma semapv:UnspecifiedMatching MONDO:0002587 encapsulated thymoma skos:exactMatch MEDGEN:232452 semapv:UnspecifiedMatching MONDO:0002587 encapsulated thymoma skos:exactMatch NCIT:C7386 Encapsulated Thymoma semapv:UnspecifiedMatching MONDO:0002587 encapsulated thymoma skos:exactMatch UMLS:C1333383 semapv:UnspecifiedMatching MONDO:0002588 thymoma type A skos:exactMatch DOID:3279 spindle cell thymoma semapv:UnspecifiedMatching MONDO:0002588 thymoma type A skos:exactMatch MEDGEN:266099 semapv:UnspecifiedMatching MONDO:0002588 thymoma type A skos:exactMatch NCIT:C6454 Thymoma Type A semapv:UnspecifiedMatching MONDO:0002588 thymoma type A skos:exactMatch Orphanet:263310 Thymoma type A semapv:UnspecifiedMatching MONDO:0002588 thymoma type A skos:exactMatch UMLS:C1266091 semapv:UnspecifiedMatching MONDO:0002590 combined thymoma skos:exactMatch DOID:3281 combined thymoma semapv:UnspecifiedMatching MONDO:0002590 combined thymoma skos:exactMatch MEDGEN:317530 semapv:UnspecifiedMatching MONDO:0002590 combined thymoma skos:exactMatch NCIT:C45722 Combined Thymus Epithelial Neoplasm semapv:UnspecifiedMatching MONDO:0002590 combined thymoma skos:exactMatch UMLS:C1707449 semapv:UnspecifiedMatching MONDO:0002592 invasive malignant thymoma skos:exactMatch DOID:3283 invasive malignant thymoma semapv:UnspecifiedMatching MONDO:0002592 invasive malignant thymoma skos:exactMatch MEDGEN:78892 semapv:UnspecifiedMatching MONDO:0002592 invasive malignant thymoma skos:exactMatch NCIT:C7904 Invasive Malignant Thymoma semapv:UnspecifiedMatching MONDO:0002592 invasive malignant thymoma skos:exactMatch UMLS:C0278846 semapv:UnspecifiedMatching MONDO:0002594 monkeypox skos:exactMatch DOID:3292 mpox semapv:UnspecifiedMatching MONDO:0002594 monkeypox skos:exactMatch ICD10CM:B04 Monkeypox semapv:UnspecifiedMatching MONDO:0002594 monkeypox skos:exactMatch ICD10WHO:B04 Monkeypox semapv:UnspecifiedMatching MONDO:0002594 monkeypox skos:exactMatch MEDGEN:124442 semapv:UnspecifiedMatching MONDO:0002594 monkeypox skos:exactMatch NCIT:C128421 Monkeypox semapv:UnspecifiedMatching MONDO:0002594 monkeypox skos:exactMatch SCTID:359814004 semapv:UnspecifiedMatching MONDO:0002594 monkeypox skos:exactMatch UMLS:C0276180 semapv:UnspecifiedMatching MONDO:0002594 monkeypox skos:exactMatch mesh:D045908 semapv:UnspecifiedMatching MONDO:0002595 vaccinia skos:exactMatch DOID:3298 vaccinia semapv:UnspecifiedMatching MONDO:0002595 vaccinia skos:exactMatch MEDGEN:52964 semapv:UnspecifiedMatching MONDO:0002595 vaccinia skos:exactMatch SCTID:111852003 semapv:UnspecifiedMatching MONDO:0002595 vaccinia skos:exactMatch UMLS:C0042214 semapv:UnspecifiedMatching MONDO:0002595 vaccinia skos:exactMatch icd11.foundation:1275065853 Vaccinia semapv:UnspecifiedMatching MONDO:0002595 vaccinia skos:exactMatch mesh:D014615 semapv:UnspecifiedMatching MONDO:0002597 notochordal tumor skos:exactMatch DOID:3303 notochordal cancer semapv:UnspecifiedMatching MONDO:0002597 notochordal tumor skos:exactMatch MEDGEN:233252 semapv:UnspecifiedMatching MONDO:0002597 notochordal tumor skos:exactMatch NCIT:C7063 Notochordal Tumor semapv:UnspecifiedMatching MONDO:0002597 notochordal tumor skos:exactMatch UMLS:C1335069 semapv:UnspecifiedMatching MONDO:0002598 germinoma skos:exactMatch DOID:3304 germinoma semapv:UnspecifiedMatching MONDO:0002598 germinoma skos:exactMatch MEDGEN:64626 semapv:UnspecifiedMatching MONDO:0002598 germinoma skos:exactMatch UMLS:C0206660 semapv:UnspecifiedMatching MONDO:0002598 germinoma skos:exactMatch mesh:D018237 semapv:UnspecifiedMatching MONDO:0002599 teratocarcinoma skos:exactMatch DOID:3305 teratocarcinoma semapv:UnspecifiedMatching MONDO:0002599 teratocarcinoma skos:exactMatch MEDGEN:104913 semapv:UnspecifiedMatching MONDO:0002599 teratocarcinoma skos:exactMatch NCIT:C3756 Mixed Embryonal Carcinoma and Teratoma semapv:UnspecifiedMatching MONDO:0002599 teratocarcinoma skos:exactMatch UMLS:C0206664 semapv:UnspecifiedMatching MONDO:0002599 teratocarcinoma skos:exactMatch mesh:D018243 semapv:UnspecifiedMatching MONDO:0002601 teratoma skos:exactMatch DOID:3307 teratoma semapv:UnspecifiedMatching MONDO:0002601 teratoma skos:exactMatch MEDGEN:21097 semapv:UnspecifiedMatching MONDO:0002601 teratoma skos:exactMatch NCIT:C3403 Teratoma semapv:UnspecifiedMatching MONDO:0002601 teratoma skos:exactMatch SCTID:36591000119102 semapv:UnspecifiedMatching MONDO:0002601 teratoma skos:exactMatch UMLS:C0039538 semapv:UnspecifiedMatching MONDO:0002601 teratoma skos:exactMatch mesh:D013724 semapv:UnspecifiedMatching MONDO:0002602 central nervous system disorder skos:exactMatch DOID:331 central nervous system disease semapv:UnspecifiedMatching MONDO:0002602 central nervous system disorder skos:exactMatch EFO:0009386 semapv:UnspecifiedMatching MONDO:0002602 central nervous system disorder skos:exactMatch MEDGEN:892343 semapv:UnspecifiedMatching MONDO:0002602 central nervous system disorder skos:exactMatch NCIT:C2934 Central Nervous System Disorder semapv:UnspecifiedMatching MONDO:0002602 central nervous system disorder skos:exactMatch SCTID:23853001 semapv:UnspecifiedMatching MONDO:0002602 central nervous system disorder skos:exactMatch UMLS:C4021765 semapv:UnspecifiedMatching MONDO:0002602 central nervous system disorder skos:exactMatch mesh:D002493 semapv:UnspecifiedMatching MONDO:0002603 angiomyolipoma skos:exactMatch DOID:3314 angiomyolipoma semapv:UnspecifiedMatching MONDO:0002603 angiomyolipoma skos:exactMatch MEDGEN:64622 semapv:UnspecifiedMatching MONDO:0002603 angiomyolipoma skos:exactMatch NCIT:C3734 Angiomyolipoma semapv:UnspecifiedMatching MONDO:0002603 angiomyolipoma skos:exactMatch UMLS:C0206633 semapv:UnspecifiedMatching MONDO:0002603 angiomyolipoma skos:exactMatch mesh:D018207 semapv:UnspecifiedMatching MONDO:0002604 pericytic neoplasm skos:exactMatch DOID:3316 perivascular tumor semapv:UnspecifiedMatching MONDO:0002604 pericytic neoplasm skos:exactMatch MEDGEN:235473 semapv:UnspecifiedMatching MONDO:0002604 pericytic neoplasm skos:exactMatch NCIT:C6528 Pericytic Neoplasm semapv:UnspecifiedMatching MONDO:0002604 pericytic neoplasm skos:exactMatch UMLS:C1335392 semapv:UnspecifiedMatching MONDO:0002605 hepatic angiomyolipoma skos:exactMatch DOID:3317 hepatic angiomyolipoma semapv:UnspecifiedMatching MONDO:0002605 hepatic angiomyolipoma skos:exactMatch MEDGEN:272705 semapv:UnspecifiedMatching MONDO:0002605 hepatic angiomyolipoma skos:exactMatch NCIT:C27485 Liver Angiomyolipoma semapv:UnspecifiedMatching MONDO:0002605 hepatic angiomyolipoma skos:exactMatch UMLS:C1333962 semapv:UnspecifiedMatching MONDO:0002606 epithelioid type angiomyolipoma skos:exactMatch DOID:3318 epithelioid type angiomyolipoma semapv:UnspecifiedMatching MONDO:0002606 epithelioid type angiomyolipoma skos:exactMatch MEDGEN:1386340 semapv:UnspecifiedMatching MONDO:0002606 epithelioid type angiomyolipoma skos:exactMatch NCIT:C38151 Epithelioid Angiomyolipoma semapv:UnspecifiedMatching MONDO:0002606 epithelioid type angiomyolipoma skos:exactMatch UMLS:C4518194 semapv:UnspecifiedMatching MONDO:0002610 purpura skos:exactMatch DOID:3326 purpura semapv:UnspecifiedMatching MONDO:0002610 purpura skos:exactMatch MEDGEN:19584 semapv:UnspecifiedMatching MONDO:0002610 purpura skos:exactMatch SCTID:387778001 semapv:UnspecifiedMatching MONDO:0002610 purpura skos:exactMatch UMLS:C0034150 semapv:UnspecifiedMatching MONDO:0002610 purpura skos:exactMatch mesh:D011693 semapv:UnspecifiedMatching MONDO:0002612 frontal lobe epilepsy skos:exactMatch DOID:3331 frontal lobe epilepsy semapv:UnspecifiedMatching MONDO:0002612 frontal lobe epilepsy skos:exactMatch MEDGEN:39074 semapv:UnspecifiedMatching MONDO:0002612 frontal lobe epilepsy skos:exactMatch SCTID:230394006 semapv:UnspecifiedMatching MONDO:0002612 frontal lobe epilepsy skos:exactMatch UMLS:C0085541 semapv:UnspecifiedMatching MONDO:0002612 frontal lobe epilepsy skos:exactMatch mesh:D017034 semapv:UnspecifiedMatching MONDO:0002613 histrionic personality disorder skos:exactMatch DOID:334 histrionic personality disorder semapv:UnspecifiedMatching MONDO:0002613 histrionic personality disorder skos:exactMatch ICD10CM:F60.4 Histrionic personality disorder semapv:UnspecifiedMatching MONDO:0002613 histrionic personality disorder skos:exactMatch MEDGEN:9276 semapv:UnspecifiedMatching MONDO:0002613 histrionic personality disorder skos:exactMatch NCIT:C92634 Histrionic Personality Disorder semapv:UnspecifiedMatching MONDO:0002613 histrionic personality disorder skos:exactMatch SCTID:55341008 semapv:UnspecifiedMatching MONDO:0002613 histrionic personality disorder skos:exactMatch UMLS:C0019681 semapv:UnspecifiedMatching MONDO:0002613 histrionic personality disorder skos:exactMatch icd11.foundation:953661315 Histrionic personality disorder semapv:UnspecifiedMatching MONDO:0002613 histrionic personality disorder skos:exactMatch mesh:D006677 semapv:UnspecifiedMatching MONDO:0002614 bone inflammation disease skos:exactMatch DOID:3342 bone inflammation disease semapv:UnspecifiedMatching MONDO:0002614 bone inflammation disease skos:exactMatch MEDGEN:10492 semapv:UnspecifiedMatching MONDO:0002614 bone inflammation disease skos:exactMatch SCTID:274144001 semapv:UnspecifiedMatching MONDO:0002614 bone inflammation disease skos:exactMatch UMLS:C0029400 semapv:UnspecifiedMatching MONDO:0002614 bone inflammation disease skos:exactMatch mesh:D010000 semapv:UnspecifiedMatching MONDO:0002615 xanthomatosis skos:exactMatch DOID:3345 xanthomatosis semapv:UnspecifiedMatching MONDO:0002615 xanthomatosis skos:exactMatch MEDGEN:21939 semapv:UnspecifiedMatching MONDO:0002615 xanthomatosis skos:exactMatch SCTID:63103006 semapv:UnspecifiedMatching MONDO:0002615 xanthomatosis skos:exactMatch UMLS:C0043325 semapv:UnspecifiedMatching MONDO:0002615 xanthomatosis skos:exactMatch mesh:D014973 semapv:UnspecifiedMatching MONDO:0002616 mesenchymal cell neoplasm skos:exactMatch DOID:3350 mesenchymal cell neoplasm semapv:UnspecifiedMatching MONDO:0002616 mesenchymal cell neoplasm skos:exactMatch MEDGEN:277359 semapv:UnspecifiedMatching MONDO:0002616 mesenchymal cell neoplasm skos:exactMatch NCIT:C7059 Mesenchymal Cell Neoplasm semapv:UnspecifiedMatching MONDO:0002616 mesenchymal cell neoplasm skos:exactMatch UMLS:C1334699 semapv:UnspecifiedMatching MONDO:0002617 bone angiosarcoma skos:exactMatch DOID:3351 bone angioendothelial sarcoma semapv:UnspecifiedMatching MONDO:0002617 bone angiosarcoma skos:exactMatch MEDGEN:231448 semapv:UnspecifiedMatching MONDO:0002617 bone angiosarcoma skos:exactMatch NCIT:C6479 Bone Angiosarcoma semapv:UnspecifiedMatching MONDO:0002617 bone angiosarcoma skos:exactMatch UMLS:C1332574 semapv:UnspecifiedMatching MONDO:0002618 undifferentiated high grade pleomorphic sarcoma of bone skos:exactMatch DOID:3352 malignant fibrous histiocytoma of bone semapv:UnspecifiedMatching MONDO:0002618 undifferentiated high grade pleomorphic sarcoma of bone skos:exactMatch MEDGEN:149264 semapv:UnspecifiedMatching MONDO:0002618 undifferentiated high grade pleomorphic sarcoma of bone skos:exactMatch NCIT:C8563 Undifferentiated High Grade Pleomorphic Sarcoma of Bone semapv:UnspecifiedMatching MONDO:0002618 undifferentiated high grade pleomorphic sarcoma of bone skos:exactMatch UMLS:C0740479 semapv:UnspecifiedMatching MONDO:0002619 bone fibrosarcoma skos:exactMatch DOID:3354 fibrosarcoma of bone semapv:UnspecifiedMatching MONDO:0002619 bone fibrosarcoma skos:exactMatch MEDGEN:404782 semapv:UnspecifiedMatching MONDO:0002619 bone fibrosarcoma skos:exactMatch NCIT:C6604 Bone Fibrosarcoma semapv:UnspecifiedMatching MONDO:0002619 bone fibrosarcoma skos:exactMatch UMLS:C2733623 semapv:UnspecifiedMatching MONDO:0002620 localized osteosarcoma skos:exactMatch DOID:3356 localized osteosarcoma semapv:UnspecifiedMatching MONDO:0002620 localized osteosarcoma skos:exactMatch MEDGEN:124467 semapv:UnspecifiedMatching MONDO:0002620 localized osteosarcoma skos:exactMatch NCIT:C7780 Localized Osteosarcoma semapv:UnspecifiedMatching MONDO:0002620 localized osteosarcoma skos:exactMatch UMLS:C0278511 semapv:UnspecifiedMatching MONDO:0002621 extraosseous osteosarcoma skos:exactMatch DOID:3357 extraosseous osteosarcoma semapv:UnspecifiedMatching MONDO:0002621 extraosseous osteosarcoma skos:exactMatch MEDGEN:163186 semapv:UnspecifiedMatching MONDO:0002621 extraosseous osteosarcoma skos:exactMatch NCIT:C8810 Extraskeletal Osteosarcoma semapv:UnspecifiedMatching MONDO:0002621 extraosseous osteosarcoma skos:exactMatch SCTID:404077005 semapv:UnspecifiedMatching MONDO:0002621 extraosseous osteosarcoma skos:exactMatch UMLS:C0855052 semapv:UnspecifiedMatching MONDO:0002622 multifocal osteogenic sarcoma skos:exactMatch DOID:3360 multifocal osteogenic sarcoma semapv:UnspecifiedMatching MONDO:0002622 multifocal osteogenic sarcoma skos:exactMatch MEDGEN:233199 semapv:UnspecifiedMatching MONDO:0002622 multifocal osteogenic sarcoma skos:exactMatch NCIT:C6470 Multifocal Osteosarcoma semapv:UnspecifiedMatching MONDO:0002622 multifocal osteogenic sarcoma skos:exactMatch UMLS:C1334820 semapv:UnspecifiedMatching MONDO:0002623 pediatric osteosarcoma skos:exactMatch DOID:3361 childhood osteosarcoma semapv:UnspecifiedMatching MONDO:0002623 pediatric osteosarcoma skos:exactMatch MEDGEN:272464 semapv:UnspecifiedMatching MONDO:0002623 pediatric osteosarcoma skos:exactMatch NCIT:C6585 Childhood Osteosarcoma semapv:UnspecifiedMatching MONDO:0002623 pediatric osteosarcoma skos:exactMatch UMLS:C1332986 semapv:UnspecifiedMatching MONDO:0002624 bone leiomyosarcoma skos:exactMatch DOID:3367 bone leiomyosarcoma semapv:UnspecifiedMatching MONDO:0002624 bone leiomyosarcoma skos:exactMatch MEDGEN:234043 semapv:UnspecifiedMatching MONDO:0002624 bone leiomyosarcoma skos:exactMatch NCIT:C7154 Bone Leiomyosarcoma semapv:UnspecifiedMatching MONDO:0002624 bone leiomyosarcoma skos:exactMatch UMLS:C1332579 semapv:UnspecifiedMatching MONDO:0002625 Ewing sarcoma of bone skos:exactMatch DOID:3368 Ewing sarcoma of bone semapv:UnspecifiedMatching MONDO:0002625 Ewing sarcoma of bone skos:exactMatch MEDGEN:108438 semapv:UnspecifiedMatching MONDO:0002625 Ewing sarcoma of bone skos:exactMatch NCIT:C4835 Ewing Sarcoma of Bone semapv:UnspecifiedMatching MONDO:0002625 Ewing sarcoma of bone skos:exactMatch SCTID:307608006 semapv:UnspecifiedMatching MONDO:0002625 Ewing sarcoma of bone skos:exactMatch UMLS:C0585474 semapv:UnspecifiedMatching MONDO:0002626 spinal accessory nerve neoplasm skos:exactMatch DOID:337 spinal accessory nerve neoplasm semapv:UnspecifiedMatching MONDO:0002626 spinal accessory nerve neoplasm skos:exactMatch MEDGEN:266074 semapv:UnspecifiedMatching MONDO:0002626 spinal accessory nerve neoplasm skos:exactMatch NCIT:C5829 Accessory Nerve Neoplasm semapv:UnspecifiedMatching MONDO:0002626 spinal accessory nerve neoplasm skos:exactMatch SCTID:126977003 semapv:UnspecifiedMatching MONDO:0002626 spinal accessory nerve neoplasm skos:exactMatch UMLS:C1263902 semapv:UnspecifiedMatching MONDO:0002627 chondroblastic osteosarcoma skos:exactMatch DOID:3372 chondroblastic osteosarcoma semapv:UnspecifiedMatching MONDO:0002627 chondroblastic osteosarcoma skos:exactMatch MEDGEN:79013 semapv:UnspecifiedMatching MONDO:0002627 chondroblastic osteosarcoma skos:exactMatch NCIT:C4021 Chondroblastic Osteosarcoma semapv:UnspecifiedMatching MONDO:0002627 chondroblastic osteosarcoma skos:exactMatch UMLS:C0279603 semapv:UnspecifiedMatching MONDO:0002628 peripheral osteosarcoma skos:exactMatch DOID:3374 peripheral osteosarcoma semapv:UnspecifiedMatching MONDO:0002628 peripheral osteosarcoma skos:exactMatch MEDGEN:272379 semapv:UnspecifiedMatching MONDO:0002628 peripheral osteosarcoma skos:exactMatch NCIT:C7134 Bone Surface (Peripheral) Osteosarcoma semapv:UnspecifiedMatching MONDO:0002628 peripheral osteosarcoma skos:exactMatch UMLS:C1332591 semapv:UnspecifiedMatching MONDO:0002629 bone osteosarcoma skos:exactMatch DOID:3376 bone osteosarcoma semapv:UnspecifiedMatching MONDO:0002629 bone osteosarcoma skos:exactMatch MEDGEN:108437 semapv:UnspecifiedMatching MONDO:0002629 bone osteosarcoma skos:exactMatch NCIT:C53707 Bone Osteosarcoma semapv:UnspecifiedMatching MONDO:0002629 bone osteosarcoma skos:exactMatch OMIM:259500 osteogenic sarcoma semapv:UnspecifiedMatching MONDO:0002629 bone osteosarcoma skos:exactMatch Orphanet:668 Osteosarcoma semapv:UnspecifiedMatching MONDO:0002629 bone osteosarcoma skos:exactMatch SCTID:307576001 semapv:UnspecifiedMatching MONDO:0002629 bone osteosarcoma skos:exactMatch UMLS:C0585442 semapv:UnspecifiedMatching MONDO:0002630 small cell osteogenic sarcoma skos:exactMatch DOID:3377 small cell osteogenic sarcoma semapv:UnspecifiedMatching MONDO:0002630 small cell osteogenic sarcoma skos:exactMatch MEDGEN:83532 semapv:UnspecifiedMatching MONDO:0002630 small cell osteogenic sarcoma skos:exactMatch NCIT:C4023 Small Cell Osteosarcoma semapv:UnspecifiedMatching MONDO:0002630 small cell osteogenic sarcoma skos:exactMatch UMLS:C0279622 semapv:UnspecifiedMatching MONDO:0002631 conventional osteosarcoma skos:exactMatch DOID:7602 conventional osteosarcoma semapv:UnspecifiedMatching MONDO:0002631 conventional osteosarcoma skos:exactMatch MEDGEN:1843980 semapv:UnspecifiedMatching MONDO:0002631 conventional osteosarcoma skos:exactMatch NCIT:C35870 Conventional Osteosarcoma semapv:UnspecifiedMatching MONDO:0002631 conventional osteosarcoma skos:exactMatch UMLS:C5848244 semapv:UnspecifiedMatching MONDO:0002632 metachronous osteosarcoma of the bone skos:exactMatch DOID:3379 metachronous osteosarcoma of the bone semapv:UnspecifiedMatching MONDO:0002632 metachronous osteosarcoma of the bone skos:exactMatch MEDGEN:233695 semapv:UnspecifiedMatching MONDO:0002632 metachronous osteosarcoma of the bone skos:exactMatch NCIT:C38157 Metachronous Osteosarcoma semapv:UnspecifiedMatching MONDO:0002632 metachronous osteosarcoma of the bone skos:exactMatch UMLS:C1334704 semapv:UnspecifiedMatching MONDO:0002633 cranial nerve neoplasm skos:exactMatch MEDGEN:3263 semapv:UnspecifiedMatching MONDO:0002633 cranial nerve neoplasm skos:exactMatch NCIT:C2963 Cranial Nerve Neoplasm semapv:UnspecifiedMatching MONDO:0002633 cranial nerve neoplasm skos:exactMatch SCTID:126966009 semapv:UnspecifiedMatching MONDO:0002633 cranial nerve neoplasm skos:exactMatch UMLS:C0010267 semapv:UnspecifiedMatching MONDO:0002633 cranial nerve neoplasm skos:exactMatch mesh:D003390 semapv:UnspecifiedMatching MONDO:0002634 liposarcoma of bone skos:exactMatch DOID:3381 liposarcoma of bone semapv:UnspecifiedMatching MONDO:0002634 liposarcoma of bone skos:exactMatch MEDGEN:231450 semapv:UnspecifiedMatching MONDO:0002634 liposarcoma of bone skos:exactMatch NCIT:C7598 Bone Liposarcoma semapv:UnspecifiedMatching MONDO:0002634 liposarcoma of bone skos:exactMatch UMLS:C1332581 semapv:UnspecifiedMatching MONDO:0002635 periodontal disorder skos:exactMatch DOID:3388 periodontal disease semapv:UnspecifiedMatching MONDO:0002635 periodontal disorder skos:exactMatch MEDGEN:10658 semapv:UnspecifiedMatching MONDO:0002635 periodontal disorder skos:exactMatch NCIT:C63743 Periodontal Disorder semapv:UnspecifiedMatching MONDO:0002635 periodontal disorder skos:exactMatch SCTID:2556008 semapv:UnspecifiedMatching MONDO:0002635 periodontal disorder skos:exactMatch UMLS:C0031090 semapv:UnspecifiedMatching MONDO:0002635 periodontal disorder skos:exactMatch mesh:D010510 semapv:UnspecifiedMatching MONDO:0002636 accessory nerve disorder skos:exactMatch DOID:339 accessory nerve disease semapv:UnspecifiedMatching MONDO:0002636 accessory nerve disorder skos:exactMatch MEDGEN:57512 semapv:UnspecifiedMatching MONDO:0002636 accessory nerve disorder skos:exactMatch NCIT:C26953 Accessory Nerve Disorder semapv:UnspecifiedMatching MONDO:0002636 accessory nerve disorder skos:exactMatch SCTID:84759007 semapv:UnspecifiedMatching MONDO:0002636 accessory nerve disorder skos:exactMatch UMLS:C0152180 semapv:UnspecifiedMatching MONDO:0002636 accessory nerve disorder skos:exactMatch mesh:D020436 semapv:UnspecifiedMatching MONDO:0002637 histiocytosis skos:exactMatch DOID:3405 histiocytosis semapv:UnspecifiedMatching MONDO:0002637 histiocytosis skos:exactMatch MEDGEN:6845 semapv:UnspecifiedMatching MONDO:0002637 histiocytosis skos:exactMatch NCIT:C3106 Histiocytosis semapv:UnspecifiedMatching MONDO:0002637 histiocytosis skos:exactMatch UMLS:C0019618 semapv:UnspecifiedMatching MONDO:0002637 histiocytosis skos:exactMatch mesh:D015614 semapv:UnspecifiedMatching MONDO:0002638 glossopharyngeal nerve neoplasm skos:exactMatch DOID:3417 glossopharyngeal nerve neoplasm semapv:UnspecifiedMatching MONDO:0002638 glossopharyngeal nerve neoplasm skos:exactMatch MEDGEN:224734 semapv:UnspecifiedMatching MONDO:0002638 glossopharyngeal nerve neoplasm skos:exactMatch NCIT:C5828 Glossopharyngeal Nerve Neoplasm semapv:UnspecifiedMatching MONDO:0002638 glossopharyngeal nerve neoplasm skos:exactMatch SCTID:126975006 semapv:UnspecifiedMatching MONDO:0002638 glossopharyngeal nerve neoplasm skos:exactMatch UMLS:C1263900 semapv:UnspecifiedMatching MONDO:0002639 glossopharyngeal nerve disorder skos:exactMatch DOID:3418 glossopharyngeal nerve disease semapv:UnspecifiedMatching MONDO:0002639 glossopharyngeal nerve disorder skos:exactMatch MEDGEN:199771 semapv:UnspecifiedMatching MONDO:0002639 glossopharyngeal nerve disorder skos:exactMatch NCIT:C27211 Glossopharyngeal Nerve Disorder semapv:UnspecifiedMatching MONDO:0002639 glossopharyngeal nerve disorder skos:exactMatch SCTID:80962007 semapv:UnspecifiedMatching MONDO:0002639 glossopharyngeal nerve disorder skos:exactMatch UMLS:C0751941 semapv:UnspecifiedMatching MONDO:0002640 optic nerve neoplasm skos:exactMatch DOID:3419 optic nerve neoplasm semapv:UnspecifiedMatching MONDO:0002640 optic nerve neoplasm skos:exactMatch EFO:1001073 semapv:UnspecifiedMatching MONDO:0002640 optic nerve neoplasm skos:exactMatch MEDGEN:101181 semapv:UnspecifiedMatching MONDO:0002640 optic nerve neoplasm skos:exactMatch NCIT:C4801 Optic Nerve Neoplasm semapv:UnspecifiedMatching MONDO:0002640 optic nerve neoplasm skos:exactMatch SCTID:395505000 semapv:UnspecifiedMatching MONDO:0002640 optic nerve neoplasm skos:exactMatch UMLS:C0524802 semapv:UnspecifiedMatching MONDO:0002640 optic nerve neoplasm skos:exactMatch mesh:D019574 semapv:UnspecifiedMatching MONDO:0002641 subclavian artery aneurysm skos:exactMatch DOID:342 subclavian artery aneurysm semapv:UnspecifiedMatching MONDO:0002641 subclavian artery aneurysm skos:exactMatch MEDGEN:510068 semapv:UnspecifiedMatching MONDO:0002641 subclavian artery aneurysm skos:exactMatch SCTID:40136003 semapv:UnspecifiedMatching MONDO:0002641 subclavian artery aneurysm skos:exactMatch UMLS:C0155746 semapv:UnspecifiedMatching MONDO:0002642 trochlear nerve neoplasm skos:exactMatch DOID:3421 trochlear nerve neoplasm semapv:UnspecifiedMatching MONDO:0002642 trochlear nerve neoplasm skos:exactMatch MEDGEN:226811 semapv:UnspecifiedMatching MONDO:0002642 trochlear nerve neoplasm skos:exactMatch NCIT:C5825 Trochlear Nerve Neoplasm semapv:UnspecifiedMatching MONDO:0002642 trochlear nerve neoplasm skos:exactMatch SCTID:126970001 semapv:UnspecifiedMatching MONDO:0002642 trochlear nerve neoplasm skos:exactMatch UMLS:C1263896 semapv:UnspecifiedMatching MONDO:0002643 vestibular disorder skos:exactMatch DOID:3426 vestibular disease semapv:UnspecifiedMatching MONDO:0002643 vestibular disorder skos:exactMatch EFO:0009691 semapv:UnspecifiedMatching MONDO:0002643 vestibular disorder skos:exactMatch MEDGEN:12079 semapv:UnspecifiedMatching MONDO:0002643 vestibular disorder skos:exactMatch UMLS:C0042594 semapv:UnspecifiedMatching MONDO:0002643 vestibular disorder skos:exactMatch mesh:D015837 semapv:UnspecifiedMatching MONDO:0002644 idiopathic granulomatous myositis skos:exactMatch DOID:3428 granulomatous myositis semapv:UnspecifiedMatching MONDO:0002644 idiopathic granulomatous myositis skos:exactMatch MEDGEN:235204 semapv:UnspecifiedMatching MONDO:0002644 idiopathic granulomatous myositis skos:exactMatch NCIT:C27575 Idiopathic Granulomatous Myositis semapv:UnspecifiedMatching MONDO:0002644 idiopathic granulomatous myositis skos:exactMatch UMLS:C1334150 semapv:UnspecifiedMatching MONDO:0002645 cerebritis skos:exactMatch DOID:3431 cerebritis semapv:UnspecifiedMatching MONDO:0002645 cerebritis skos:exactMatch MEDGEN:149273 semapv:UnspecifiedMatching MONDO:0002645 cerebritis skos:exactMatch NCIT:C27199 Cerebritis semapv:UnspecifiedMatching MONDO:0002645 cerebritis skos:exactMatch UMLS:C0742115 semapv:UnspecifiedMatching MONDO:0002646 viral laryngitis skos:exactMatch DOID:3436 viral laryngitis semapv:UnspecifiedMatching MONDO:0002646 viral laryngitis skos:exactMatch MEDGEN:167276 semapv:UnspecifiedMatching MONDO:0002646 viral laryngitis skos:exactMatch NCIT:C27305 Viral Laryngitis semapv:UnspecifiedMatching MONDO:0002646 viral laryngitis skos:exactMatch SCTID:441551009 semapv:UnspecifiedMatching MONDO:0002646 viral laryngitis skos:exactMatch UMLS:C0853195 semapv:UnspecifiedMatching MONDO:0002647 laryngitis skos:exactMatch DOID:3437 laryngitis semapv:UnspecifiedMatching MONDO:0002647 laryngitis skos:exactMatch MEDGEN:7273 semapv:UnspecifiedMatching MONDO:0002647 laryngitis skos:exactMatch NCIT:C26811 Laryngitis semapv:UnspecifiedMatching MONDO:0002647 laryngitis skos:exactMatch SCTID:45913009 semapv:UnspecifiedMatching MONDO:0002647 laryngitis skos:exactMatch UMLS:C0023067 semapv:UnspecifiedMatching MONDO:0002647 laryngitis skos:exactMatch mesh:D007827 semapv:UnspecifiedMatching MONDO:0002648 mammary Paget disease skos:exactMatch DOID:3443 mammary Paget's disease semapv:UnspecifiedMatching MONDO:0002648 mammary Paget disease skos:exactMatch MEDGEN:18263 semapv:UnspecifiedMatching MONDO:0002648 mammary Paget disease skos:exactMatch NCIT:C47857 Breast Paget Disease semapv:UnspecifiedMatching MONDO:0002648 mammary Paget disease skos:exactMatch UMLS:C0030185 semapv:UnspecifiedMatching MONDO:0002648 mammary Paget disease skos:exactMatch mesh:D010144 semapv:UnspecifiedMatching MONDO:0002649 scrotum Paget disease skos:exactMatch DOID:3444 scrotum Paget's disease semapv:UnspecifiedMatching MONDO:0002649 scrotum Paget disease skos:exactMatch MEDGEN:65959 semapv:UnspecifiedMatching MONDO:0002649 scrotum Paget disease skos:exactMatch NCIT:C7728 Scrotal Paget Disease semapv:UnspecifiedMatching MONDO:0002649 scrotum Paget disease skos:exactMatch UMLS:C0238330 semapv:UnspecifiedMatching MONDO:0002650 scrotal carcinoma skos:exactMatch DOID:3445 scrotal carcinoma semapv:UnspecifiedMatching MONDO:0002650 scrotal carcinoma skos:exactMatch MEDGEN:235088 semapv:UnspecifiedMatching MONDO:0002650 scrotal carcinoma skos:exactMatch NCIT:C6389 Scrotal Carcinoma semapv:UnspecifiedMatching MONDO:0002650 scrotal carcinoma skos:exactMatch UMLS:C1370468 semapv:UnspecifiedMatching MONDO:0002651 anal Paget disease skos:exactMatch DOID:3446 anal Paget's disease semapv:UnspecifiedMatching MONDO:0002651 anal Paget disease skos:exactMatch MEDGEN:233981 semapv:UnspecifiedMatching MONDO:0002651 anal Paget disease skos:exactMatch NCIT:C5598 Anal Paget Disease semapv:UnspecifiedMatching MONDO:0002651 anal Paget disease skos:exactMatch UMLS:C1332274 semapv:UnspecifiedMatching MONDO:0002652 anus adenocarcinoma skos:exactMatch DOID:3447 anus adenocarcinoma semapv:UnspecifiedMatching MONDO:0002652 anus adenocarcinoma skos:exactMatch MEDGEN:233976 semapv:UnspecifiedMatching MONDO:0002652 anus adenocarcinoma skos:exactMatch NCIT:C5600 Anal Adenocarcinoma semapv:UnspecifiedMatching MONDO:0002652 anus adenocarcinoma skos:exactMatch SCTID:423607006 semapv:UnspecifiedMatching MONDO:0002652 anus adenocarcinoma skos:exactMatch UMLS:C1332257 semapv:UnspecifiedMatching MONDO:0002653 Paget disease of the penis skos:exactMatch DOID:3448 penis Paget's disease semapv:UnspecifiedMatching MONDO:0002653 Paget disease of the penis skos:exactMatch MEDGEN:66374 semapv:UnspecifiedMatching MONDO:0002653 Paget disease of the penis skos:exactMatch NCIT:C27817 Penile Paget Disease semapv:UnspecifiedMatching MONDO:0002653 Paget disease of the penis skos:exactMatch Orphanet:398053 Adenocarcinoma of the penis semapv:UnspecifiedMatching MONDO:0002653 Paget disease of the penis skos:exactMatch SCTID:398768004 semapv:UnspecifiedMatching MONDO:0002653 Paget disease of the penis skos:exactMatch UMLS:C0221286 semapv:UnspecifiedMatching MONDO:0002654 uterine disorder skos:exactMatch DOID:345 uterine disease semapv:UnspecifiedMatching MONDO:0002654 uterine disorder skos:exactMatch MEDGEN:22590 semapv:UnspecifiedMatching MONDO:0002654 uterine disorder skos:exactMatch NCIT:C26907 Uterine Disorder semapv:UnspecifiedMatching MONDO:0002654 uterine disorder skos:exactMatch SCTID:12337004 semapv:UnspecifiedMatching MONDO:0002654 uterine disorder skos:exactMatch UMLS:C0042131 semapv:UnspecifiedMatching MONDO:0002654 uterine disorder skos:exactMatch mesh:D014591 semapv:UnspecifiedMatching MONDO:0002655 cutaneous Paget disease skos:exactMatch DOID:3450 cutaneous Paget's disease semapv:UnspecifiedMatching MONDO:0002656 skin carcinoma skos:exactMatch DOID:3451 skin carcinoma semapv:UnspecifiedMatching MONDO:0002656 skin carcinoma skos:exactMatch EFO:0009259 semapv:UnspecifiedMatching MONDO:0002656 skin carcinoma skos:exactMatch MEDGEN:195945 semapv:UnspecifiedMatching MONDO:0002656 skin carcinoma skos:exactMatch NCIT:C4914 Skin Carcinoma semapv:UnspecifiedMatching MONDO:0002656 skin carcinoma skos:exactMatch UMLS:C0699893 semapv:UnspecifiedMatching MONDO:0002657 breast disorder skos:exactMatch DOID:3463 breast disease semapv:UnspecifiedMatching MONDO:0002657 breast disorder skos:exactMatch EFO:0009483 semapv:UnspecifiedMatching MONDO:0002657 breast disorder skos:exactMatch ICD10CM:N60-N65 Disorders of breast (N60-N65) semapv:UnspecifiedMatching MONDO:0002657 breast disorder skos:exactMatch MEDGEN:652 semapv:UnspecifiedMatching MONDO:0002657 breast disorder skos:exactMatch NCIT:C26709 Breast Disorder semapv:UnspecifiedMatching MONDO:0002657 breast disorder skos:exactMatch SCTID:79604008 semapv:UnspecifiedMatching MONDO:0002657 breast disorder skos:exactMatch UMLS:C0006145 semapv:UnspecifiedMatching MONDO:0002657 breast disorder skos:exactMatch mesh:D001941 semapv:UnspecifiedMatching MONDO:0002658 iris cancer skos:exactMatch DOID:3478 iris cancer semapv:UnspecifiedMatching MONDO:0002658 iris cancer skos:exactMatch MEDGEN:91103 semapv:UnspecifiedMatching MONDO:0002658 iris cancer skos:exactMatch NCIT:C4554 Malignant Iris Neoplasm semapv:UnspecifiedMatching MONDO:0002658 iris cancer skos:exactMatch SCTID:188264002 semapv:UnspecifiedMatching MONDO:0002658 iris cancer skos:exactMatch UMLS:C0346372 semapv:UnspecifiedMatching MONDO:0002658 iris cancer skos:exactMatch icd11.foundation:982190055 Malignant neoplasm of iris semapv:UnspecifiedMatching MONDO:0002659 uveal cancer skos:exactMatch DOID:3479 uveal cancer semapv:UnspecifiedMatching MONDO:0002659 uveal cancer skos:exactMatch EFO:1001230 semapv:UnspecifiedMatching MONDO:0002659 uveal cancer skos:exactMatch MEDGEN:1772018 semapv:UnspecifiedMatching MONDO:0002659 uveal cancer skos:exactMatch NCIT:C6105 Malignant Uveal Neoplasm semapv:UnspecifiedMatching MONDO:0002659 uveal cancer skos:exactMatch UMLS:C3665670 semapv:UnspecifiedMatching MONDO:0002659 uveal cancer skos:exactMatch icd11.foundation:232747171 Malignant neoplasm of uvea semapv:UnspecifiedMatching MONDO:0002660 blepharochalasis skos:exactMatch DOID:348 blepharochalasis semapv:UnspecifiedMatching MONDO:0002660 blepharochalasis skos:exactMatch ICD10CM:H02.3 Blepharochalasis semapv:UnspecifiedMatching MONDO:0002660 blepharochalasis skos:exactMatch MEDGEN:14154 semapv:UnspecifiedMatching MONDO:0002660 blepharochalasis skos:exactMatch SCTID:47704002 semapv:UnspecifiedMatching MONDO:0002660 blepharochalasis skos:exactMatch UMLS:C0005742 semapv:UnspecifiedMatching MONDO:0002660 blepharochalasis skos:exactMatch icd11.foundation:583527617 Blepharochalasis semapv:UnspecifiedMatching MONDO:0002661 uveal disorder skos:exactMatch DOID:3480 uveal disease semapv:UnspecifiedMatching MONDO:0002661 uveal disorder skos:exactMatch MEDGEN:21804 semapv:UnspecifiedMatching MONDO:0002661 uveal disorder skos:exactMatch NCIT:C26908 Uveal Disorder semapv:UnspecifiedMatching MONDO:0002661 uveal disorder skos:exactMatch SCTID:95678007 semapv:UnspecifiedMatching MONDO:0002661 uveal disorder skos:exactMatch UMLS:C0042161 semapv:UnspecifiedMatching MONDO:0002661 uveal disorder skos:exactMatch mesh:D014603 semapv:UnspecifiedMatching MONDO:0002664 extrahepatic bile duct signet ring cell carcinoma skos:exactMatch DOID:3494 bile duct signet ring cell carcinoma semapv:UnspecifiedMatching MONDO:0002664 extrahepatic bile duct signet ring cell carcinoma skos:exactMatch MEDGEN:163667 semapv:UnspecifiedMatching MONDO:0002664 extrahepatic bile duct signet ring cell carcinoma skos:exactMatch NCIT:C5776 Extrahepatic Bile Duct Signet Ring Cell Adenocarcinoma semapv:UnspecifiedMatching MONDO:0002664 extrahepatic bile duct signet ring cell carcinoma skos:exactMatch UMLS:C0861859 semapv:UnspecifiedMatching MONDO:0002665 extrahepatic bile duct adenocarcinoma skos:exactMatch DOID:3495 extrahepatic bile duct adenocarcinoma semapv:UnspecifiedMatching MONDO:0002665 extrahepatic bile duct adenocarcinoma skos:exactMatch MEDGEN:124642 semapv:UnspecifiedMatching MONDO:0002665 extrahepatic bile duct adenocarcinoma skos:exactMatch NCIT:C7975 Extrahepatic Bile Duct Adenocarcinoma semapv:UnspecifiedMatching MONDO:0002665 extrahepatic bile duct adenocarcinoma skos:exactMatch UMLS:C0279659 semapv:UnspecifiedMatching MONDO:0002666 pancreatic signet ring cell adenocarcinoma skos:exactMatch DOID:3497 pancreatic signet ring cell adenocarcinoma semapv:UnspecifiedMatching MONDO:0002666 pancreatic signet ring cell adenocarcinoma skos:exactMatch MEDGEN:233834 semapv:UnspecifiedMatching MONDO:0002666 pancreatic signet ring cell adenocarcinoma skos:exactMatch NCIT:C5720 Pancreatic Signet Ring Cell Adenocarcinoma semapv:UnspecifiedMatching MONDO:0002666 pancreatic signet ring cell adenocarcinoma skos:exactMatch UMLS:C1335317 semapv:UnspecifiedMatching MONDO:0002667 gallbladder signet ring cell adenocarcinoma skos:exactMatch DOID:3499 gallbladder signet ring cell adenocarcinoma semapv:UnspecifiedMatching MONDO:0002667 gallbladder signet ring cell adenocarcinoma skos:exactMatch MEDGEN:232228 semapv:UnspecifiedMatching MONDO:0002667 gallbladder signet ring cell adenocarcinoma skos:exactMatch NCIT:C5745 Gallbladder Signet Ring Cell Adenocarcinoma semapv:UnspecifiedMatching MONDO:0002667 gallbladder signet ring cell adenocarcinoma skos:exactMatch UMLS:C1333758 semapv:UnspecifiedMatching MONDO:0002669 ampullary signet ring cell adenocarcinoma skos:exactMatch DOID:3501 ampullary signet ring cell adenocarcinoma semapv:UnspecifiedMatching MONDO:0002669 ampullary signet ring cell adenocarcinoma skos:exactMatch MEDGEN:231057 semapv:UnspecifiedMatching MONDO:0002669 ampullary signet ring cell adenocarcinoma skos:exactMatch NCIT:C6656 Ampulla of Vater Signet Ring Cell Adenocarcinoma semapv:UnspecifiedMatching MONDO:0002669 ampullary signet ring cell adenocarcinoma skos:exactMatch UMLS:C1332249 semapv:UnspecifiedMatching MONDO:0002670 ampulla of vater adenocarcinoma skos:exactMatch DOID:3502 ampulla of Vater adenocarcinoma semapv:UnspecifiedMatching MONDO:0002670 ampulla of vater adenocarcinoma skos:exactMatch EFO:0008490 semapv:UnspecifiedMatching MONDO:0002670 ampulla of vater adenocarcinoma skos:exactMatch MEDGEN:231054 semapv:UnspecifiedMatching MONDO:0002670 ampulla of vater adenocarcinoma skos:exactMatch NCIT:C6650 Ampulla of Vater Adenocarcinoma semapv:UnspecifiedMatching MONDO:0002670 ampulla of vater adenocarcinoma skos:exactMatch UMLS:C1332243 semapv:UnspecifiedMatching MONDO:0002670 ampulla of vater adenocarcinoma skos:exactMatch icd11.foundation:1601321941 Adenocarcinoma of ampulla of Vater semapv:UnspecifiedMatching MONDO:0002671 signet ring cell breast carcinoma skos:exactMatch DOID:3503 breast signet ring cell adenocarcinoma semapv:UnspecifiedMatching MONDO:0002671 signet ring cell breast carcinoma skos:exactMatch MEDGEN:236816 semapv:UnspecifiedMatching MONDO:0002671 signet ring cell breast carcinoma skos:exactMatch NCIT:C5175 Breast Signet Ring Cell Adenocarcinoma semapv:UnspecifiedMatching MONDO:0002671 signet ring cell breast carcinoma skos:exactMatch UMLS:C1335964 semapv:UnspecifiedMatching MONDO:0002672 acinar prostate adenocarcinoma, signet ring variant skos:exactMatch DOID:3504 prostate signet ring cell adenocarcinoma semapv:UnspecifiedMatching MONDO:0002672 acinar prostate adenocarcinoma, signet ring variant skos:exactMatch MEDGEN:1835069 semapv:UnspecifiedMatching MONDO:0002672 acinar prostate adenocarcinoma, signet ring variant skos:exactMatch NCIT:C5535 Prostate Acinar Signet Ring Cell-Like Adenocarcinoma semapv:UnspecifiedMatching MONDO:0002672 acinar prostate adenocarcinoma, signet ring variant skos:exactMatch UMLS:C5787291 semapv:UnspecifiedMatching MONDO:0002674 stricture or kinking of ureter skos:exactMatch DOID:3508 stricture or kinking of ureter semapv:UnspecifiedMatching MONDO:0002674 stricture or kinking of ureter skos:exactMatch MEDGEN:574605 semapv:UnspecifiedMatching MONDO:0002674 stricture or kinking of ureter skos:exactMatch UMLS:C0341728 semapv:UnspecifiedMatching MONDO:0002675 neurofibrosarcoma skos:exactMatch DOID:3512 neurofibrosarcoma semapv:UnspecifiedMatching MONDO:0002675 neurofibrosarcoma skos:exactMatch MEDGEN:104927 semapv:UnspecifiedMatching MONDO:0002675 neurofibrosarcoma skos:exactMatch UMLS:C0206729 semapv:UnspecifiedMatching MONDO:0002675 neurofibrosarcoma skos:exactMatch mesh:D018319 semapv:UnspecifiedMatching MONDO:0002676 adult fibrosarcoma skos:exactMatch DOID:3516 adult fibrosarcoma semapv:UnspecifiedMatching MONDO:0002676 adult fibrosarcoma skos:exactMatch MEDGEN:75840 semapv:UnspecifiedMatching MONDO:0002676 adult fibrosarcoma skos:exactMatch NCIT:C7809 Adult Fibrosarcoma semapv:UnspecifiedMatching MONDO:0002676 adult fibrosarcoma skos:exactMatch UMLS:C0278595 semapv:UnspecifiedMatching MONDO:0002677 conventional fibrosarcoma skos:exactMatch DOID:3517 conventional fibrosarcoma semapv:UnspecifiedMatching MONDO:0002677 conventional fibrosarcoma skos:exactMatch MEDGEN:232393 semapv:UnspecifiedMatching MONDO:0002677 conventional fibrosarcoma skos:exactMatch NCIT:C9429 Conventional Fibrosarcoma semapv:UnspecifiedMatching MONDO:0002677 conventional fibrosarcoma skos:exactMatch UMLS:C1333156 semapv:UnspecifiedMatching MONDO:0002678 pediatric fibrosarcoma skos:exactMatch DOID:3520 childhood fibrosarcoma semapv:UnspecifiedMatching MONDO:0002678 pediatric fibrosarcoma skos:exactMatch MEDGEN:124685 semapv:UnspecifiedMatching MONDO:0002678 pediatric fibrosarcoma skos:exactMatch NCIT:C8088 Childhood Fibrosarcoma semapv:UnspecifiedMatching MONDO:0002678 pediatric fibrosarcoma skos:exactMatch UMLS:C0279981 semapv:UnspecifiedMatching MONDO:0002679 cerebral infarction skos:exactMatch DOID:3526 cerebral infarction semapv:UnspecifiedMatching MONDO:0002679 cerebral infarction skos:exactMatch ICD10CM:I63 Cerebral infarction semapv:UnspecifiedMatching MONDO:0002679 cerebral infarction skos:exactMatch ICD10CM:I63.9 Cerebral infarction, unspecified semapv:UnspecifiedMatching MONDO:0002679 cerebral infarction skos:exactMatch ICD10WHO:I63 Cerebral infarction semapv:UnspecifiedMatching MONDO:0002679 cerebral infarction skos:exactMatch MEDGEN:3321 semapv:UnspecifiedMatching MONDO:0002679 cerebral infarction skos:exactMatch NCIT:C50486 Cerebral Infarction semapv:UnspecifiedMatching MONDO:0002679 cerebral infarction skos:exactMatch SCTID:432504007 semapv:UnspecifiedMatching MONDO:0002679 cerebral infarction skos:exactMatch UMLS:C0007785 semapv:UnspecifiedMatching MONDO:0002679 cerebral infarction skos:exactMatch icd11.foundation:1614716959 Cerebral ischaemic stroke of unknown cause semapv:UnspecifiedMatching MONDO:0002679 cerebral infarction skos:exactMatch icd11.foundation:636274910 Cerebral ischaemic stroke semapv:UnspecifiedMatching MONDO:0002679 cerebral infarction skos:exactMatch mesh:D002544 semapv:UnspecifiedMatching MONDO:0002680 chronic wasting disease skos:exactMatch DOID:3530 chronic wasting disease semapv:UnspecifiedMatching MONDO:0002680 chronic wasting disease skos:exactMatch mesh:D034081 semapv:UnspecifiedMatching MONDO:0002681 choroid plexus cancer skos:exactMatch DOID:3540 choroid plexus cancer semapv:UnspecifiedMatching MONDO:0002681 choroid plexus cancer skos:exactMatch EFO:0007206 semapv:UnspecifiedMatching MONDO:0002681 choroid plexus cancer skos:exactMatch MEDGEN:138053 semapv:UnspecifiedMatching MONDO:0002681 choroid plexus cancer skos:exactMatch NCIT:C4533 Malignant Choroid Plexus Neoplasm semapv:UnspecifiedMatching MONDO:0002681 choroid plexus cancer skos:exactMatch UMLS:C0346289 semapv:UnspecifiedMatching MONDO:0002682 cerebral ventricle cancer skos:exactMatch DOID:3541 cerebral ventricle cancer semapv:UnspecifiedMatching MONDO:0002682 cerebral ventricle cancer skos:exactMatch MEDGEN:3325 semapv:UnspecifiedMatching MONDO:0002682 cerebral ventricle cancer skos:exactMatch NCIT:C2937 Intraventricular Brain Neoplasm semapv:UnspecifiedMatching MONDO:0002682 cerebral ventricle cancer skos:exactMatch SCTID:126958000 semapv:UnspecifiedMatching MONDO:0002682 cerebral ventricle cancer skos:exactMatch UMLS:C0007798 semapv:UnspecifiedMatching MONDO:0002682 cerebral ventricle cancer skos:exactMatch icd11.foundation:940756217 Malignant neoplasm of cerebral ventricle semapv:UnspecifiedMatching MONDO:0002682 cerebral ventricle cancer skos:exactMatch mesh:D002551 semapv:UnspecifiedMatching MONDO:0002683 adult choroid plexus neoplasm skos:exactMatch DOID:3542 adult choroid plexus cancer semapv:UnspecifiedMatching MONDO:0002683 adult choroid plexus neoplasm skos:exactMatch MEDGEN:163268 semapv:UnspecifiedMatching MONDO:0002683 adult choroid plexus neoplasm skos:exactMatch NCIT:C8568 Adult Choroid Plexus Neoplasm semapv:UnspecifiedMatching MONDO:0002683 adult choroid plexus neoplasm skos:exactMatch UMLS:C0796430 semapv:UnspecifiedMatching MONDO:0002684 atypical choroid plexus papilloma skos:exactMatch DOID:3544 atypical choroid plexus papilloma semapv:UnspecifiedMatching MONDO:0002684 atypical choroid plexus papilloma skos:exactMatch MEDGEN:220431 semapv:UnspecifiedMatching MONDO:0002684 atypical choroid plexus papilloma skos:exactMatch NCIT:C53686 Atypical Choroid Plexus Papilloma semapv:UnspecifiedMatching MONDO:0002684 atypical choroid plexus papilloma skos:exactMatch Orphanet:251902 Atypical papilloma of choroid plexus semapv:UnspecifiedMatching MONDO:0002684 atypical choroid plexus papilloma skos:exactMatch UMLS:C1266176 semapv:UnspecifiedMatching MONDO:0002684 atypical choroid plexus papilloma skos:exactMatch icd11.foundation:1640044333 Atypical choroid plexus papilloma semapv:UnspecifiedMatching MONDO:0002685 childhood choroid plexus carcinoma skos:exactMatch DOID:3545 childhood choroid plexus cancer semapv:UnspecifiedMatching MONDO:0002685 childhood choroid plexus carcinoma skos:exactMatch MEDGEN:901899 semapv:UnspecifiedMatching MONDO:0002685 childhood choroid plexus carcinoma skos:exactMatch NCIT:C124292 Childhood Choroid Plexus Carcinoma semapv:UnspecifiedMatching MONDO:0002685 childhood choroid plexus carcinoma skos:exactMatch UMLS:C1510426 semapv:UnspecifiedMatching MONDO:0002687 superior mesenteric artery syndrome skos:exactMatch DOID:3557 superior mesenteric artery syndrome semapv:UnspecifiedMatching MONDO:0002687 superior mesenteric artery syndrome skos:exactMatch MEDGEN:21404 semapv:UnspecifiedMatching MONDO:0002687 superior mesenteric artery syndrome skos:exactMatch NCIT:C85175 Superior Mesenteric Artery Syndrome semapv:UnspecifiedMatching MONDO:0002687 superior mesenteric artery syndrome skos:exactMatch Orphanet:622099 Superior mesenteric artery syndrome semapv:UnspecifiedMatching MONDO:0002687 superior mesenteric artery syndrome skos:exactMatch SCTID:197006009 semapv:UnspecifiedMatching MONDO:0002687 superior mesenteric artery syndrome skos:exactMatch UMLS:C0038828 semapv:UnspecifiedMatching MONDO:0002687 superior mesenteric artery syndrome skos:exactMatch mesh:D013478 semapv:UnspecifiedMatching MONDO:0002688 duodenal obstruction skos:exactMatch DOID:3558 duodenal obstruction semapv:UnspecifiedMatching MONDO:0002688 duodenal obstruction skos:exactMatch MEDGEN:4417 semapv:UnspecifiedMatching MONDO:0002688 duodenal obstruction skos:exactMatch SCTID:95532008 semapv:UnspecifiedMatching MONDO:0002688 duodenal obstruction skos:exactMatch UMLS:C0013292 semapv:UnspecifiedMatching MONDO:0002688 duodenal obstruction skos:exactMatch icd11.foundation:1450844990 Obstruction of duodenum semapv:UnspecifiedMatching MONDO:0002688 duodenal obstruction skos:exactMatch mesh:D004380 semapv:UnspecifiedMatching MONDO:0002691 liver cancer skos:exactMatch DOID:3571 liver cancer semapv:UnspecifiedMatching MONDO:0002691 liver cancer skos:exactMatch MEDGEN:87520 semapv:UnspecifiedMatching MONDO:0002691 liver cancer skos:exactMatch NCIT:C34803 Primary Malignant Liver Neoplasm semapv:UnspecifiedMatching MONDO:0002691 liver cancer skos:exactMatch SCTID:93870000 semapv:UnspecifiedMatching MONDO:0002691 liver cancer skos:exactMatch UMLS:C0345904 semapv:UnspecifiedMatching MONDO:0002691 liver cancer skos:exactMatch icd11.foundation:1605020868 Malignant neoplasm of liver semapv:UnspecifiedMatching MONDO:0002692 intracranial sinus thrombosis skos:exactMatch DOID:3572 intracranial sinus thrombosis semapv:UnspecifiedMatching MONDO:0002692 intracranial sinus thrombosis skos:exactMatch MEDGEN:20771 semapv:UnspecifiedMatching MONDO:0002692 intracranial sinus thrombosis skos:exactMatch UMLS:C0037198 semapv:UnspecifiedMatching MONDO:0002692 intracranial sinus thrombosis skos:exactMatch mesh:D012851 semapv:UnspecifiedMatching MONDO:0002693 lateral sinus thrombosis skos:exactMatch DOID:3574 lateral sinus thrombosis semapv:UnspecifiedMatching MONDO:0002693 lateral sinus thrombosis skos:exactMatch MEDGEN:124359 semapv:UnspecifiedMatching MONDO:0002693 lateral sinus thrombosis skos:exactMatch SCTID:192761004 semapv:UnspecifiedMatching MONDO:0002693 lateral sinus thrombosis skos:exactMatch UMLS:C0270639 semapv:UnspecifiedMatching MONDO:0002693 lateral sinus thrombosis skos:exactMatch mesh:D020227 semapv:UnspecifiedMatching MONDO:0002694 cavernous sinus thrombosis skos:exactMatch DOID:3575 cavernous sinus thrombosis semapv:UnspecifiedMatching MONDO:0002694 cavernous sinus thrombosis skos:exactMatch MEDGEN:65970 semapv:UnspecifiedMatching MONDO:0002694 cavernous sinus thrombosis skos:exactMatch SCTID:89980009 semapv:UnspecifiedMatching MONDO:0002694 cavernous sinus thrombosis skos:exactMatch UMLS:C0238454 semapv:UnspecifiedMatching MONDO:0002694 cavernous sinus thrombosis skos:exactMatch mesh:D020226 semapv:UnspecifiedMatching MONDO:0002695 sagittal sinus thrombosis skos:exactMatch DOID:3576 sagittal sinus thrombosis semapv:UnspecifiedMatching MONDO:0002695 sagittal sinus thrombosis skos:exactMatch MEDGEN:90927 semapv:UnspecifiedMatching MONDO:0002695 sagittal sinus thrombosis skos:exactMatch SCTID:192760003 semapv:UnspecifiedMatching MONDO:0002695 sagittal sinus thrombosis skos:exactMatch UMLS:C0338575 semapv:UnspecifiedMatching MONDO:0002695 sagittal sinus thrombosis skos:exactMatch mesh:D020225 semapv:UnspecifiedMatching MONDO:0002696 Sertoli cell tumor skos:exactMatch DOID:3577 Sertoli cell tumor semapv:UnspecifiedMatching MONDO:0002696 Sertoli cell tumor skos:exactMatch MEDGEN:11387 semapv:UnspecifiedMatching MONDO:0002696 Sertoli cell tumor skos:exactMatch NCIT:C39976 Sertoli Cell Tumor semapv:UnspecifiedMatching MONDO:0002696 Sertoli cell tumor skos:exactMatch UMLS:C0036769 semapv:UnspecifiedMatching MONDO:0002696 Sertoli cell tumor skos:exactMatch mesh:D012707 semapv:UnspecifiedMatching MONDO:0002697 ovarian gonadoblastoma skos:exactMatch DOID:3578 ovarian gonadoblastoma semapv:UnspecifiedMatching MONDO:0002697 ovarian gonadoblastoma skos:exactMatch MEDGEN:309510 semapv:UnspecifiedMatching MONDO:0002697 ovarian gonadoblastoma skos:exactMatch NCIT:C39985 Ovarian Gonadoblastoma semapv:UnspecifiedMatching MONDO:0002697 ovarian gonadoblastoma skos:exactMatch OMIM:424500 gonadoblastoma semapv:UnspecifiedMatching MONDO:0002697 ovarian gonadoblastoma skos:exactMatch Orphanet:206484 Gonadoblastoma semapv:UnspecifiedMatching MONDO:0002697 ovarian gonadoblastoma skos:exactMatch SCTID:716594002 semapv:UnspecifiedMatching MONDO:0002697 ovarian gonadoblastoma skos:exactMatch UMLS:C1518716 semapv:UnspecifiedMatching MONDO:0002697 ovarian gonadoblastoma skos:exactMatch icd11.foundation:1564602847 Ovarian gonadoblastoma semapv:UnspecifiedMatching MONDO:0002698 testicular gonadoblastoma skos:exactMatch DOID:3579 testicular gonadoblastoma semapv:UnspecifiedMatching MONDO:0002698 testicular gonadoblastoma skos:exactMatch MEDGEN:272839 semapv:UnspecifiedMatching MONDO:0002698 testicular gonadoblastoma skos:exactMatch NCIT:C39911 Testicular Gonadoblastoma semapv:UnspecifiedMatching MONDO:0002698 testicular gonadoblastoma skos:exactMatch UMLS:C1515283 semapv:UnspecifiedMatching MONDO:0002701 ovarian mucinous cystadenocarcinoma skos:exactMatch DOID:3604 ovarian mucinous cystadenocarcinoma semapv:UnspecifiedMatching MONDO:0002701 ovarian mucinous cystadenocarcinoma skos:exactMatch EFO:1001963 semapv:UnspecifiedMatching MONDO:0002701 ovarian mucinous cystadenocarcinoma skos:exactMatch MEDGEN:76011 semapv:UnspecifiedMatching MONDO:0002701 ovarian mucinous cystadenocarcinoma skos:exactMatch NCIT:C4026 Ovarian Mucinous Cystadenocarcinoma semapv:UnspecifiedMatching MONDO:0002701 ovarian mucinous cystadenocarcinoma skos:exactMatch SCTID:254851009 semapv:UnspecifiedMatching MONDO:0002701 ovarian mucinous cystadenocarcinoma skos:exactMatch UMLS:C0279665 semapv:UnspecifiedMatching MONDO:0002702 ovarian cystadenocarcinoma skos:exactMatch DOID:3605 ovarian cystadenocarcinoma semapv:UnspecifiedMatching MONDO:0002702 ovarian cystadenocarcinoma skos:exactMatch EFO:1001962 semapv:UnspecifiedMatching MONDO:0002702 ovarian cystadenocarcinoma skos:exactMatch MEDGEN:242756 semapv:UnspecifiedMatching MONDO:0002702 ovarian cystadenocarcinoma skos:exactMatch NCIT:C5228 Ovarian Cystadenocarcinoma semapv:UnspecifiedMatching MONDO:0002702 ovarian cystadenocarcinoma skos:exactMatch SCTID:314191009 semapv:UnspecifiedMatching MONDO:0002702 ovarian cystadenocarcinoma skos:exactMatch UMLS:C1096638 semapv:UnspecifiedMatching MONDO:0002703 appendix mucinous cystadenocarcinoma skos:exactMatch DOID:3607 appendix mucinous cystadenocarcinoma semapv:UnspecifiedMatching MONDO:0002703 appendix mucinous cystadenocarcinoma skos:exactMatch MEDGEN:204256 semapv:UnspecifiedMatching MONDO:0002703 appendix mucinous cystadenocarcinoma skos:exactMatch NCIT:C5511 Appendix Mucinous Cystadenocarcinoma semapv:UnspecifiedMatching MONDO:0002703 appendix mucinous cystadenocarcinoma skos:exactMatch UMLS:C1096639 semapv:UnspecifiedMatching MONDO:0002705 breast mucinous cystadenocarcinoma skos:exactMatch DOID:3609 breast mucinous cystadenocarcinoma semapv:UnspecifiedMatching MONDO:0002705 breast mucinous cystadenocarcinoma skos:exactMatch MEDGEN:267769 semapv:UnspecifiedMatching MONDO:0002705 breast mucinous cystadenocarcinoma skos:exactMatch NCIT:C40354 Breast Mucinous Cystadenocarcinoma semapv:UnspecifiedMatching MONDO:0002705 breast mucinous cystadenocarcinoma skos:exactMatch UMLS:C1511318 semapv:UnspecifiedMatching MONDO:0002706 cervix endometriosis skos:exactMatch DOID:361 cervix endometriosis semapv:UnspecifiedMatching MONDO:0002706 cervix endometriosis skos:exactMatch MEDGEN:78705 semapv:UnspecifiedMatching MONDO:0002706 cervix endometriosis skos:exactMatch NCIT:C27623 Cervical Endometriosis semapv:UnspecifiedMatching MONDO:0002706 cervix endometriosis skos:exactMatch SCTID:61640006 semapv:UnspecifiedMatching MONDO:0002706 cervix endometriosis skos:exactMatch UMLS:C0269107 semapv:UnspecifiedMatching MONDO:0002707 breast mucinous carcinoma skos:exactMatch DOID:3610 breast mucinous carcinoma semapv:UnspecifiedMatching MONDO:0002707 breast mucinous carcinoma skos:exactMatch MEDGEN:235337 semapv:UnspecifiedMatching MONDO:0002707 breast mucinous carcinoma skos:exactMatch NCIT:C9131 Breast Mucinous Carcinoma semapv:UnspecifiedMatching MONDO:0002707 breast mucinous carcinoma skos:exactMatch SCTID:444712000 semapv:UnspecifiedMatching MONDO:0002707 breast mucinous carcinoma skos:exactMatch UMLS:C1334807 semapv:UnspecifiedMatching MONDO:0002708 retinitis skos:exactMatch DOID:3612 retinitis semapv:UnspecifiedMatching MONDO:0002708 retinitis skos:exactMatch MEDGEN:19765 semapv:UnspecifiedMatching MONDO:0002708 retinitis skos:exactMatch NCIT:C115993 Retinitis semapv:UnspecifiedMatching MONDO:0002708 retinitis skos:exactMatch SCTID:399463004 semapv:UnspecifiedMatching MONDO:0002708 retinitis skos:exactMatch UMLS:C0035333 semapv:UnspecifiedMatching MONDO:0002708 retinitis skos:exactMatch mesh:D012173 semapv:UnspecifiedMatching MONDO:0002710 infiltrating angiolipoma skos:exactMatch DOID:3615 infiltrating angiolipoma semapv:UnspecifiedMatching MONDO:0002710 infiltrating angiolipoma skos:exactMatch MEDGEN:227009 semapv:UnspecifiedMatching MONDO:0002710 infiltrating angiolipoma skos:exactMatch NCIT:C7449 Infiltrating Angiolipoma semapv:UnspecifiedMatching MONDO:0002710 infiltrating angiolipoma skos:exactMatch UMLS:C1305256 semapv:UnspecifiedMatching MONDO:0002712 epidural spinal canal angiolipoma skos:exactMatch DOID:3617 epidural spinal canal angiolipoma semapv:UnspecifiedMatching MONDO:0002712 epidural spinal canal angiolipoma skos:exactMatch MEDGEN:232461 semapv:UnspecifiedMatching MONDO:0002712 epidural spinal canal angiolipoma skos:exactMatch NCIT:C5424 Epidural Spinal Angiolipoma semapv:UnspecifiedMatching MONDO:0002712 epidural spinal canal angiolipoma skos:exactMatch UMLS:C1333416 semapv:UnspecifiedMatching MONDO:0002713 epidural spinal canal neoplasm skos:exactMatch DOID:3618 epidural spinal canal neoplasm semapv:UnspecifiedMatching MONDO:0002713 epidural spinal canal neoplasm skos:exactMatch MEDGEN:4504 semapv:UnspecifiedMatching MONDO:0002713 epidural spinal canal neoplasm skos:exactMatch NCIT:C3019 Epidural Spinal Neoplasm semapv:UnspecifiedMatching MONDO:0002713 epidural spinal canal neoplasm skos:exactMatch UMLS:C0014536 semapv:UnspecifiedMatching MONDO:0002713 epidural spinal canal neoplasm skos:exactMatch mesh:D015174 semapv:UnspecifiedMatching MONDO:0002714 central nervous system cancer skos:exactMatch DOID:3620 central nervous system cancer semapv:UnspecifiedMatching MONDO:0002714 central nervous system cancer skos:exactMatch EFO:0000326 semapv:UnspecifiedMatching MONDO:0002714 central nervous system cancer skos:exactMatch MEDGEN:87593 semapv:UnspecifiedMatching MONDO:0002714 central nervous system cancer skos:exactMatch NCIT:C4627 Malignant Central Nervous System Neoplasm semapv:UnspecifiedMatching MONDO:0002714 central nervous system cancer skos:exactMatch SCTID:126951006 semapv:UnspecifiedMatching MONDO:0002714 central nervous system cancer skos:exactMatch UMLS:C0348374 semapv:UnspecifiedMatching MONDO:0002714 central nervous system cancer skos:exactMatch mesh:D016543 semapv:UnspecifiedMatching MONDO:0002715 uterine cancer skos:exactMatch DOID:363 uterine cancer semapv:UnspecifiedMatching MONDO:0002715 uterine cancer skos:exactMatch MEDGEN:57791 semapv:UnspecifiedMatching MONDO:0002715 uterine cancer skos:exactMatch NCIT:C3552 Malignant Uterine Neoplasm semapv:UnspecifiedMatching MONDO:0002715 uterine cancer skos:exactMatch SCTID:371973000 semapv:UnspecifiedMatching MONDO:0002715 uterine cancer skos:exactMatch UMLS:C0153567 semapv:UnspecifiedMatching MONDO:0002715 uterine cancer skos:exactMatch icd11.foundation:1551596364 Malignant neoplasms of uterus, part not specified semapv:UnspecifiedMatching MONDO:0002715 uterine cancer skos:exactMatch mesh:D014594 semapv:UnspecifiedMatching MONDO:0002716 childhood spinal cord tumor skos:exactMatch DOID:3637 childhood spinal cord tumor semapv:UnspecifiedMatching MONDO:0002716 childhood spinal cord tumor skos:exactMatch MEDGEN:209512 semapv:UnspecifiedMatching MONDO:0002716 childhood spinal cord tumor skos:exactMatch NCIT:C9234 Childhood Spinal Cord Neoplasm semapv:UnspecifiedMatching MONDO:0002716 childhood spinal cord tumor skos:exactMatch UMLS:C1134515 semapv:UnspecifiedMatching MONDO:0002717 spinal cord intramedullary teratoma skos:exactMatch DOID:3639 spinal cord intramedullary teratoma semapv:UnspecifiedMatching MONDO:0002717 spinal cord intramedullary teratoma skos:exactMatch MEDGEN:233575 semapv:UnspecifiedMatching MONDO:0002717 spinal cord intramedullary teratoma skos:exactMatch NCIT:C5428 Intramedullary Spinal Cord Teratoma semapv:UnspecifiedMatching MONDO:0002717 spinal cord intramedullary teratoma skos:exactMatch UMLS:C1334259 semapv:UnspecifiedMatching MONDO:0002718 central nervous system teratoma skos:exactMatch DOID:3640 central nervous system teratoma semapv:UnspecifiedMatching MONDO:0002718 central nervous system teratoma skos:exactMatch MEDGEN:234105 semapv:UnspecifiedMatching MONDO:0002718 central nervous system teratoma skos:exactMatch NCIT:C5441 Central Nervous System Teratoma semapv:UnspecifiedMatching MONDO:0002718 central nervous system teratoma skos:exactMatch Orphanet:252018 Teratoma of the central nervous system semapv:UnspecifiedMatching MONDO:0002718 central nervous system teratoma skos:exactMatch UMLS:C1332895 semapv:UnspecifiedMatching MONDO:0002719 conus medullaris neoplasm skos:exactMatch DOID:3641 conus medullaris neoplasm semapv:UnspecifiedMatching MONDO:0002719 conus medullaris neoplasm skos:exactMatch MEDGEN:232392 semapv:UnspecifiedMatching MONDO:0002719 conus medullaris neoplasm skos:exactMatch NCIT:C5443 Conus Medullaris Neoplasm semapv:UnspecifiedMatching MONDO:0002719 conus medullaris neoplasm skos:exactMatch UMLS:C1333153 semapv:UnspecifiedMatching MONDO:0002720 sella turcica neoplasm skos:exactMatch DOID:3643 sella turcica neoplasm semapv:UnspecifiedMatching MONDO:0002720 sella turcica neoplasm skos:exactMatch MEDGEN:148188 semapv:UnspecifiedMatching MONDO:0002720 sella turcica neoplasm skos:exactMatch NCIT:C4944 Sellar Region Neoplasm semapv:UnspecifiedMatching MONDO:0002720 sella turcica neoplasm skos:exactMatch UMLS:C0748616 semapv:UnspecifiedMatching MONDO:0002721 necrosis of pituitary skos:exactMatch DOID:3646 necrosis of pituitary semapv:UnspecifiedMatching MONDO:0002721 necrosis of pituitary skos:exactMatch MEDGEN:124404 semapv:UnspecifiedMatching MONDO:0002721 necrosis of pituitary skos:exactMatch NCIT:C27066 Pituitary Gland Necrosis semapv:UnspecifiedMatching MONDO:0002721 necrosis of pituitary skos:exactMatch SCTID:59572000 semapv:UnspecifiedMatching MONDO:0002721 necrosis of pituitary skos:exactMatch UMLS:C0271558 semapv:UnspecifiedMatching MONDO:0002722 olfactory nerve neoplasm skos:exactMatch DOID:8256 olfactory neural tumor semapv:UnspecifiedMatching MONDO:0002722 olfactory nerve neoplasm skos:exactMatch MEDGEN:87551 semapv:UnspecifiedMatching MONDO:0002722 olfactory nerve neoplasm skos:exactMatch NCIT:C5121 Olfactory Nerve Neoplasm semapv:UnspecifiedMatching MONDO:0002722 olfactory nerve neoplasm skos:exactMatch SCTID:126967000 semapv:UnspecifiedMatching MONDO:0002722 olfactory nerve neoplasm skos:exactMatch UMLS:C0346319 semapv:UnspecifiedMatching MONDO:0002724 mast cell neoplasm skos:exactMatch DOID:3664 mast cell neoplasm semapv:UnspecifiedMatching MONDO:0002724 mast cell neoplasm skos:exactMatch EFO:0009000 semapv:UnspecifiedMatching MONDO:0002724 mast cell neoplasm skos:exactMatch MEDGEN:83178 semapv:UnspecifiedMatching MONDO:0002724 mast cell neoplasm skos:exactMatch NCIT:C9295 Mast Cell Neoplasm semapv:UnspecifiedMatching MONDO:0002724 mast cell neoplasm skos:exactMatch SCTID:414653009 semapv:UnspecifiedMatching MONDO:0002724 mast cell neoplasm skos:exactMatch UMLS:C0334664 semapv:UnspecifiedMatching MONDO:0002726 cutaneous solitary mastocytoma skos:exactMatch DOID:3666 solitary mastocytoma of the skin semapv:UnspecifiedMatching MONDO:0002726 cutaneous solitary mastocytoma skos:exactMatch NCIT:C7138 Solitary Mastocytoma of the Skin semapv:UnspecifiedMatching MONDO:0002726 cutaneous solitary mastocytoma skos:exactMatch mesh:D054705 semapv:UnspecifiedMatching MONDO:0002727 olfactory nerve disorder skos:exactMatch DOID:367 olfactory nerve disease semapv:UnspecifiedMatching MONDO:0002727 olfactory nerve disorder skos:exactMatch MEDGEN:155962 semapv:UnspecifiedMatching MONDO:0002727 olfactory nerve disorder skos:exactMatch NCIT:C27210 Olfactory Nerve Disorder semapv:UnspecifiedMatching MONDO:0002727 olfactory nerve disorder skos:exactMatch SCTID:68982002 semapv:UnspecifiedMatching MONDO:0002727 olfactory nerve disorder skos:exactMatch UMLS:C0751937 semapv:UnspecifiedMatching MONDO:0002727 olfactory nerve disorder skos:exactMatch mesh:D020431 semapv:UnspecifiedMatching MONDO:0002728 rhabdoid tumor skos:exactMatch DOID:3672 rhabdoid cancer semapv:UnspecifiedMatching MONDO:0002728 rhabdoid tumor skos:exactMatch EFO:0005701 semapv:UnspecifiedMatching MONDO:0002728 rhabdoid tumor skos:exactMatch MEDGEN:64646 semapv:UnspecifiedMatching MONDO:0002728 rhabdoid tumor skos:exactMatch NCIT:C3808 Rhabdoid Tumor semapv:UnspecifiedMatching MONDO:0002728 rhabdoid tumor skos:exactMatch Orphanet:69077 Rhabdoid tumor semapv:UnspecifiedMatching MONDO:0002728 rhabdoid tumor skos:exactMatch UMLS:C0206743 semapv:UnspecifiedMatching MONDO:0002728 rhabdoid tumor skos:exactMatch mesh:D018335 semapv:UnspecifiedMatching MONDO:0002729 rhabdoid tumor of the kidney skos:exactMatch DOID:3674 kidney rhabdoid cancer semapv:UnspecifiedMatching MONDO:0002729 rhabdoid tumor of the kidney skos:exactMatch EFO:1000512 semapv:UnspecifiedMatching MONDO:0002729 rhabdoid tumor of the kidney skos:exactMatch MEDGEN:208930 semapv:UnspecifiedMatching MONDO:0002729 rhabdoid tumor of the kidney skos:exactMatch NCIT:C8715 Rhabdoid Tumor of the Kidney semapv:UnspecifiedMatching MONDO:0002729 rhabdoid tumor of the kidney skos:exactMatch UMLS:C0854917 semapv:UnspecifiedMatching MONDO:0002730 childhood kidney neoplasm skos:exactMatch DOID:3675 childhood kidney cancer semapv:UnspecifiedMatching MONDO:0002730 childhood kidney neoplasm skos:exactMatch MEDGEN:232356 semapv:UnspecifiedMatching MONDO:0002730 childhood kidney neoplasm skos:exactMatch NCIT:C6563 Childhood Kidney Neoplasm semapv:UnspecifiedMatching MONDO:0002730 childhood kidney neoplasm skos:exactMatch UMLS:C1333003 semapv:UnspecifiedMatching MONDO:0002731 cerebral hemisphere cancer skos:exactMatch DOID:368 cerebrum cancer semapv:UnspecifiedMatching MONDO:0002731 cerebral hemisphere cancer skos:exactMatch MEDGEN:91109 semapv:UnspecifiedMatching MONDO:0002731 cerebral hemisphere cancer skos:exactMatch NCIT:C4577 Malignant Cerebral Neoplasm semapv:UnspecifiedMatching MONDO:0002731 cerebral hemisphere cancer skos:exactMatch SCTID:429033009 semapv:UnspecifiedMatching MONDO:0002731 cerebral hemisphere cancer skos:exactMatch UMLS:C0346903 semapv:UnspecifiedMatching MONDO:0002732 lung benign neoplasm skos:exactMatch DOID:3683 lung benign neoplasm semapv:UnspecifiedMatching MONDO:0002732 lung benign neoplasm skos:exactMatch MEDGEN:83393 semapv:UnspecifiedMatching MONDO:0002732 lung benign neoplasm skos:exactMatch NCIT:C4454 Benign Lung Neoplasm semapv:UnspecifiedMatching MONDO:0002732 lung benign neoplasm skos:exactMatch UMLS:C0345963 semapv:UnspecifiedMatching MONDO:0002734 anal mucinous adenocarcinoma skos:exactMatch DOID:3691 anal colloid adenocarcinoma semapv:UnspecifiedMatching MONDO:0002734 anal mucinous adenocarcinoma skos:exactMatch MEDGEN:233980 semapv:UnspecifiedMatching MONDO:0002734 anal mucinous adenocarcinoma skos:exactMatch NCIT:C5606 Anal Mucinous Adenocarcinoma semapv:UnspecifiedMatching MONDO:0002734 anal mucinous adenocarcinoma skos:exactMatch UMLS:C1332272 semapv:UnspecifiedMatching MONDO:0002735 anal canal adenocarcinoma skos:exactMatch DOID:3692 anal canal adenocarcinoma semapv:UnspecifiedMatching MONDO:0002735 anal canal adenocarcinoma skos:exactMatch MEDGEN:233977 semapv:UnspecifiedMatching MONDO:0002735 anal canal adenocarcinoma skos:exactMatch NCIT:C7471 Anal Canal Adenocarcinoma semapv:UnspecifiedMatching MONDO:0002735 anal canal adenocarcinoma skos:exactMatch Orphanet:424016 Adenocarcinoma of the anal canal semapv:UnspecifiedMatching MONDO:0002735 anal canal adenocarcinoma skos:exactMatch SCTID:764845008 semapv:UnspecifiedMatching MONDO:0002735 anal canal adenocarcinoma skos:exactMatch UMLS:C1332259 semapv:UnspecifiedMatching MONDO:0002735 anal canal adenocarcinoma skos:exactMatch icd11.foundation:168138050 Adenocarcinoma of anus or anal canal semapv:UnspecifiedMatching MONDO:0002736 ampulla of vater mucinous adenocarcinoma skos:exactMatch DOID:3693 ampulla of Vater mucinous adenocarcinoma semapv:UnspecifiedMatching MONDO:0002736 ampulla of vater mucinous adenocarcinoma skos:exactMatch MEDGEN:233973 semapv:UnspecifiedMatching MONDO:0002736 ampulla of vater mucinous adenocarcinoma skos:exactMatch NCIT:C27416 Ampulla of Vater Mucinous Adenocarcinoma semapv:UnspecifiedMatching MONDO:0002736 ampulla of vater mucinous adenocarcinoma skos:exactMatch UMLS:C1332248 semapv:UnspecifiedMatching MONDO:0002737 acute sanguinous otitis media skos:exactMatch DOID:3696 acute sanguinous otitis media semapv:UnspecifiedMatching MONDO:0002737 acute sanguinous otitis media skos:exactMatch MEDGEN:583100 semapv:UnspecifiedMatching MONDO:0002737 acute sanguinous otitis media skos:exactMatch SCTID:77478005 semapv:UnspecifiedMatching MONDO:0002737 acute sanguinous otitis media skos:exactMatch UMLS:C0395865 semapv:UnspecifiedMatching MONDO:0002738 acute transudative otitis media skos:exactMatch DOID:3697 acute transudative otitis media semapv:UnspecifiedMatching MONDO:0002738 acute transudative otitis media skos:exactMatch MEDGEN:543339 semapv:UnspecifiedMatching MONDO:0002738 acute transudative otitis media skos:exactMatch SCTID:359609001 semapv:UnspecifiedMatching MONDO:0002738 acute transudative otitis media skos:exactMatch UMLS:C0271432 semapv:UnspecifiedMatching MONDO:0002739 extrahepatic bile duct mucinous adenocarcinoma skos:exactMatch DOID:3698 bile duct mucinous adenocarcinoma semapv:UnspecifiedMatching MONDO:0002739 extrahepatic bile duct mucinous adenocarcinoma skos:exactMatch MEDGEN:167830 semapv:UnspecifiedMatching MONDO:0002739 extrahepatic bile duct mucinous adenocarcinoma skos:exactMatch NCIT:C5846 Extrahepatic Bile Duct Mucinous Adenocarcinoma semapv:UnspecifiedMatching MONDO:0002739 extrahepatic bile duct mucinous adenocarcinoma skos:exactMatch UMLS:C0861856 semapv:UnspecifiedMatching MONDO:0002740 uterine ligament mucinous adenocarcinoma skos:exactMatch DOID:3699 uterine ligament mucinous adenocarcinoma semapv:UnspecifiedMatching MONDO:0002740 uterine ligament mucinous adenocarcinoma skos:exactMatch NCIT:C40137 Broad Ligament Mucinous Adenocarcinoma semapv:UnspecifiedMatching MONDO:0002741 uterine ligament adenocarcinoma skos:exactMatch DOID:3700 uterine ligament adenocarcinoma semapv:UnspecifiedMatching MONDO:0002741 uterine ligament adenocarcinoma skos:exactMatch MEDGEN:311429 semapv:UnspecifiedMatching MONDO:0002741 uterine ligament adenocarcinoma skos:exactMatch NCIT:C40135 Broad Ligament Adenocarcinoma semapv:UnspecifiedMatching MONDO:0002741 uterine ligament adenocarcinoma skos:exactMatch UMLS:C1519866 semapv:UnspecifiedMatching MONDO:0002742 cervical mucinous adenocarcinoma skos:exactMatch DOID:3701 cervical mucinous adenocarcinoma semapv:UnspecifiedMatching MONDO:0002742 cervical mucinous adenocarcinoma skos:exactMatch MEDGEN:232048 semapv:UnspecifiedMatching MONDO:0002742 cervical mucinous adenocarcinoma skos:exactMatch NCIT:C36095 Cervical Mucinous Adenocarcinoma semapv:UnspecifiedMatching MONDO:0002742 cervical mucinous adenocarcinoma skos:exactMatch UMLS:C1332919 semapv:UnspecifiedMatching MONDO:0002744 fallopian tube mucinous adenocarcinoma skos:exactMatch DOID:3704 fallopian tube mucinous adenocarcinoma semapv:UnspecifiedMatching MONDO:0002744 fallopian tube mucinous adenocarcinoma skos:exactMatch MEDGEN:274489 semapv:UnspecifiedMatching MONDO:0002744 fallopian tube mucinous adenocarcinoma skos:exactMatch NCIT:C40103 Fallopian Tube Mucinous Adenocarcinoma semapv:UnspecifiedMatching MONDO:0002744 fallopian tube mucinous adenocarcinoma skos:exactMatch UMLS:C1517119 semapv:UnspecifiedMatching MONDO:0002745 fallopian tube mucinous tumor skos:exactMatch DOID:3705 fallopian tube mucinous tumor semapv:UnspecifiedMatching MONDO:0002745 fallopian tube mucinous tumor skos:exactMatch MEDGEN:275871 semapv:UnspecifiedMatching MONDO:0002745 fallopian tube mucinous tumor skos:exactMatch NCIT:C40109 Fallopian Tube Mucinous Neoplasm semapv:UnspecifiedMatching MONDO:0002745 fallopian tube mucinous tumor skos:exactMatch UMLS:C1517120 semapv:UnspecifiedMatching MONDO:0002746 fallopian tube adenocarcinoma skos:exactMatch DOID:3706 fallopian tube adenocarcinoma semapv:UnspecifiedMatching MONDO:0002746 fallopian tube adenocarcinoma skos:exactMatch MEDGEN:232183 semapv:UnspecifiedMatching MONDO:0002746 fallopian tube adenocarcinoma skos:exactMatch NCIT:C6265 Fallopian Tube Adenocarcinoma semapv:UnspecifiedMatching MONDO:0002746 fallopian tube adenocarcinoma skos:exactMatch UMLS:C1333590 semapv:UnspecifiedMatching MONDO:0002747 endometrial mucinous adenocarcinoma skos:exactMatch DOID:3707 endometrial mucinous adenocarcinoma semapv:UnspecifiedMatching MONDO:0002747 endometrial mucinous adenocarcinoma skos:exactMatch EFO:1000236 semapv:UnspecifiedMatching MONDO:0002747 endometrial mucinous adenocarcinoma skos:exactMatch MEDGEN:276939 semapv:UnspecifiedMatching MONDO:0002747 endometrial mucinous adenocarcinoma skos:exactMatch NCIT:C40144 Endometrial Mucinous Adenocarcinoma semapv:UnspecifiedMatching MONDO:0002747 endometrial mucinous adenocarcinoma skos:exactMatch UMLS:C1519859 semapv:UnspecifiedMatching MONDO:0002747 endometrial mucinous adenocarcinoma skos:exactMatch icd11.foundation:395055399 Endometrial mucinous adenocarcinoma semapv:UnspecifiedMatching MONDO:0002748 rectum mucinous adenocarcinoma skos:exactMatch DOID:3709 rectum mucinous adenocarcinoma semapv:UnspecifiedMatching MONDO:0002748 rectum mucinous adenocarcinoma skos:exactMatch MEDGEN:83537 semapv:UnspecifiedMatching MONDO:0002748 rectum mucinous adenocarcinoma skos:exactMatch NCIT:C7973 Rectal Mucinous Adenocarcinoma semapv:UnspecifiedMatching MONDO:0002748 rectum mucinous adenocarcinoma skos:exactMatch UMLS:C0279652 semapv:UnspecifiedMatching MONDO:0002749 extracranial neuroblastoma skos:exactMatch DOID:371 extracranial neuroblastoma semapv:UnspecifiedMatching MONDO:0002750 bladder colloid adenocarcinoma skos:exactMatch DOID:3710 bladder colloid adenocarcinoma semapv:UnspecifiedMatching MONDO:0002750 bladder colloid adenocarcinoma skos:exactMatch MEDGEN:267373 semapv:UnspecifiedMatching MONDO:0002750 bladder colloid adenocarcinoma skos:exactMatch NCIT:C39837 Bladder Mucinous Adenocarcinoma semapv:UnspecifiedMatching MONDO:0002750 bladder colloid adenocarcinoma skos:exactMatch UMLS:C1511193 semapv:UnspecifiedMatching MONDO:0002751 bladder adenocarcinoma skos:exactMatch DOID:3711 bladder adenocarcinoma semapv:UnspecifiedMatching MONDO:0002751 bladder adenocarcinoma skos:exactMatch EFO:1000125 semapv:UnspecifiedMatching MONDO:0002751 bladder adenocarcinoma skos:exactMatch MEDGEN:76014 semapv:UnspecifiedMatching MONDO:0002751 bladder adenocarcinoma skos:exactMatch NCIT:C4032 Bladder Adenocarcinoma semapv:UnspecifiedMatching MONDO:0002751 bladder adenocarcinoma skos:exactMatch SCTID:255110003 semapv:UnspecifiedMatching MONDO:0002751 bladder adenocarcinoma skos:exactMatch UMLS:C0279682 semapv:UnspecifiedMatching MONDO:0002752 ovarian adenocarcinoma skos:exactMatch DOID:3713 ovary adenocarcinoma semapv:UnspecifiedMatching MONDO:0002752 ovarian adenocarcinoma skos:exactMatch EFO:0006460 semapv:UnspecifiedMatching MONDO:0002752 ovarian adenocarcinoma skos:exactMatch MEDGEN:181757 semapv:UnspecifiedMatching MONDO:0002752 ovarian adenocarcinoma skos:exactMatch NCIT:C7700 Ovarian Adenocarcinoma semapv:UnspecifiedMatching MONDO:0002752 ovarian adenocarcinoma skos:exactMatch Orphanet:213504 Adenocarcinoma of ovary semapv:UnspecifiedMatching MONDO:0002752 ovarian adenocarcinoma skos:exactMatch UMLS:C0948216 semapv:UnspecifiedMatching MONDO:0002754 extramedullary plasmacytoma skos:exactMatch DOID:3720 extramedullary plasmacytoma semapv:UnspecifiedMatching MONDO:0002754 extramedullary plasmacytoma skos:exactMatch ICD10CM:C90.2 Extramedullary plasmacytoma semapv:UnspecifiedMatching MONDO:0002754 extramedullary plasmacytoma skos:exactMatch MEDGEN:75843 semapv:UnspecifiedMatching MONDO:0002754 extramedullary plasmacytoma skos:exactMatch NCIT:C4002 Extraosseous Plasmacytoma semapv:UnspecifiedMatching MONDO:0002754 extramedullary plasmacytoma skos:exactMatch SCTID:188718006 semapv:UnspecifiedMatching MONDO:0002754 extramedullary plasmacytoma skos:exactMatch UMLS:C0278619 semapv:UnspecifiedMatching MONDO:0002754 extramedullary plasmacytoma skos:exactMatch icd11.foundation:246947217 Extramedullary plasmacytoma semapv:UnspecifiedMatching MONDO:0002755 solitary osseous plasmacytoma skos:exactMatch DOID:3722 solitary osseous plasmacytoma semapv:UnspecifiedMatching MONDO:0002755 solitary osseous plasmacytoma skos:exactMatch MEDGEN:75777 semapv:UnspecifiedMatching MONDO:0002755 solitary osseous plasmacytoma skos:exactMatch NCIT:C7812 Solitary Plasmacytoma of Bone semapv:UnspecifiedMatching MONDO:0002755 solitary osseous plasmacytoma skos:exactMatch SCTID:426336007 semapv:UnspecifiedMatching MONDO:0002755 solitary osseous plasmacytoma skos:exactMatch UMLS:C0272256 semapv:UnspecifiedMatching MONDO:0002756 solitary plasmacytoma of chest wall skos:exactMatch DOID:3723 solitary plasmacytoma of chest wall semapv:UnspecifiedMatching MONDO:0002756 solitary plasmacytoma of chest wall skos:exactMatch MEDGEN:232340 semapv:UnspecifiedMatching MONDO:0002756 solitary plasmacytoma of chest wall skos:exactMatch NCIT:C6711 Chest Wall Solitary Plasmacytoma semapv:UnspecifiedMatching MONDO:0002756 solitary plasmacytoma of chest wall skos:exactMatch UMLS:C1332936 semapv:UnspecifiedMatching MONDO:0002757 acute allergic sanguinous otitis media skos:exactMatch DOID:3728 acute allergic sanguinous otitis media semapv:UnspecifiedMatching MONDO:0002757 acute allergic sanguinous otitis media skos:exactMatch MEDGEN:509958 semapv:UnspecifiedMatching MONDO:0002757 acute allergic sanguinous otitis media skos:exactMatch SCTID:17866004 semapv:UnspecifiedMatching MONDO:0002757 acute allergic sanguinous otitis media skos:exactMatch UMLS:C0155420 semapv:UnspecifiedMatching MONDO:0002758 vulva verrucous carcinoma skos:exactMatch DOID:3740 vulva verrucous carcinoma semapv:UnspecifiedMatching MONDO:0002758 vulva verrucous carcinoma skos:exactMatch MEDGEN:234482 semapv:UnspecifiedMatching MONDO:0002758 vulva verrucous carcinoma skos:exactMatch NCIT:C6383 Vulvar Verrucous Carcinoma semapv:UnspecifiedMatching MONDO:0002758 vulva verrucous carcinoma skos:exactMatch UMLS:C1336983 semapv:UnspecifiedMatching MONDO:0002759 bladder verrucous carcinoma skos:exactMatch DOID:3741 bladder verrucous squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0002759 bladder verrucous carcinoma skos:exactMatch MEDGEN:267376 semapv:UnspecifiedMatching MONDO:0002759 bladder verrucous carcinoma skos:exactMatch NCIT:C39832 Bladder Verrucous Carcinoma semapv:UnspecifiedMatching MONDO:0002759 bladder verrucous carcinoma skos:exactMatch UMLS:C1511208 semapv:UnspecifiedMatching MONDO:0002760 bladder squamous cell carcinoma skos:exactMatch DOID:3742 bladder squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0002760 bladder squamous cell carcinoma skos:exactMatch EFO:1000130 semapv:UnspecifiedMatching MONDO:0002760 bladder squamous cell carcinoma skos:exactMatch MEDGEN:124645 semapv:UnspecifiedMatching MONDO:0002760 bladder squamous cell carcinoma skos:exactMatch NCIT:C4031 Bladder Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0002760 bladder squamous cell carcinoma skos:exactMatch SCTID:255111004 semapv:UnspecifiedMatching MONDO:0002760 bladder squamous cell carcinoma skos:exactMatch UMLS:C0279681 semapv:UnspecifiedMatching MONDO:0002761 cervical verrucous carcinoma skos:exactMatch DOID:3743 cervical verrucous carcinoma semapv:UnspecifiedMatching MONDO:0002761 cervical verrucous carcinoma skos:exactMatch MEDGEN:275713 semapv:UnspecifiedMatching MONDO:0002761 cervical verrucous carcinoma skos:exactMatch NCIT:C40190 Cervical Verrucous Carcinoma semapv:UnspecifiedMatching MONDO:0002761 cervical verrucous carcinoma skos:exactMatch UMLS:C1516435 semapv:UnspecifiedMatching MONDO:0002762 esophagus verrucous carcinoma skos:exactMatch DOID:3747 esophagus verrucous carcinoma semapv:UnspecifiedMatching MONDO:0002762 esophagus verrucous carcinoma skos:exactMatch MEDGEN:272594 semapv:UnspecifiedMatching MONDO:0002762 esophagus verrucous carcinoma skos:exactMatch NCIT:C27420 Esophageal Verrucous Carcinoma semapv:UnspecifiedMatching MONDO:0002762 esophagus verrucous carcinoma skos:exactMatch UMLS:C1333470 semapv:UnspecifiedMatching MONDO:0002763 urethral verrucous carcinoma skos:exactMatch DOID:3749 urethral verrucous carcinoma semapv:UnspecifiedMatching MONDO:0002763 urethral verrucous carcinoma skos:exactMatch MEDGEN:274359 semapv:UnspecifiedMatching MONDO:0002763 urethral verrucous carcinoma skos:exactMatch NCIT:C39874 Urethral Verrucous Carcinoma semapv:UnspecifiedMatching MONDO:0002763 urethral verrucous carcinoma skos:exactMatch UMLS:C1519827 semapv:UnspecifiedMatching MONDO:0002764 urethra squamous cell carcinoma skos:exactMatch DOID:3750 urethra squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0002764 urethra squamous cell carcinoma skos:exactMatch MEDGEN:234975 semapv:UnspecifiedMatching MONDO:0002764 urethra squamous cell carcinoma skos:exactMatch NCIT:C6165 Urethral Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0002764 urethra squamous cell carcinoma skos:exactMatch UMLS:C1336890 semapv:UnspecifiedMatching MONDO:0002765 plantar verrucous skin carcinoma skos:exactMatch DOID:3751 plantar verrucous skin carcinoma semapv:UnspecifiedMatching MONDO:0002765 plantar verrucous skin carcinoma skos:exactMatch MEDGEN:578859 semapv:UnspecifiedMatching MONDO:0002765 plantar verrucous skin carcinoma skos:exactMatch NCIT:C6811 Plantar Verrucous Carcinoma semapv:UnspecifiedMatching MONDO:0002765 plantar verrucous skin carcinoma skos:exactMatch UMLS:C0349657 semapv:UnspecifiedMatching MONDO:0002766 larynx verrucous carcinoma skos:exactMatch DOID:3752 larynx verrucous carcinoma semapv:UnspecifiedMatching MONDO:0002766 larynx verrucous carcinoma skos:exactMatch MEDGEN:76097 semapv:UnspecifiedMatching MONDO:0002766 larynx verrucous carcinoma skos:exactMatch NCIT:C8188 Laryngeal Verrucous Carcinoma semapv:UnspecifiedMatching MONDO:0002766 larynx verrucous carcinoma skos:exactMatch SCTID:707427000 semapv:UnspecifiedMatching MONDO:0002766 larynx verrucous carcinoma skos:exactMatch UMLS:C0280328 semapv:UnspecifiedMatching MONDO:0002768 true hermaphroditism skos:exactMatch DOID:3763 hermaphroditism semapv:UnspecifiedMatching MONDO:0002768 true hermaphroditism skos:exactMatch MEDGEN:78595 semapv:UnspecifiedMatching MONDO:0002768 true hermaphroditism skos:exactMatch NCIT:C85207 True Hermaphroditism semapv:UnspecifiedMatching MONDO:0002768 true hermaphroditism skos:exactMatch SCTID:237821001 semapv:UnspecifiedMatching MONDO:0002768 true hermaphroditism skos:exactMatch UMLS:C0266361 semapv:UnspecifiedMatching MONDO:0002769 leukorrhea skos:exactMatch DOID:3766 leukorrhea semapv:UnspecifiedMatching MONDO:0002769 leukorrhea skos:exactMatch MEDGEN:44134 semapv:UnspecifiedMatching MONDO:0002769 leukorrhea skos:exactMatch UMLS:C0023533 semapv:UnspecifiedMatching MONDO:0002769 leukorrhea skos:exactMatch mesh:D007973 semapv:UnspecifiedMatching MONDO:0002770 vaginal discharge skos:exactMatch DOID:3767 vaginal discharge semapv:UnspecifiedMatching MONDO:0002770 vaginal discharge skos:exactMatch MEDGEN:65302 semapv:UnspecifiedMatching MONDO:0002770 vaginal discharge skos:exactMatch NCIT:C50795 Abnormal Vaginal Discharge semapv:UnspecifiedMatching MONDO:0002770 vaginal discharge skos:exactMatch UMLS:C0227791 semapv:UnspecifiedMatching MONDO:0002770 vaginal discharge skos:exactMatch icd11.foundation:2123556104 Vaginal discharge semapv:UnspecifiedMatching MONDO:0002770 vaginal discharge skos:exactMatch mesh:D019522 semapv:UnspecifiedMatching MONDO:0002771 pulmonary fibrosis skos:exactMatch DOID:3770 pulmonary fibrosis semapv:UnspecifiedMatching MONDO:0002771 pulmonary fibrosis skos:exactMatch EFO:0009448 semapv:UnspecifiedMatching MONDO:0002771 pulmonary fibrosis skos:exactMatch MEDGEN:11028 semapv:UnspecifiedMatching MONDO:0002771 pulmonary fibrosis skos:exactMatch NCIT:C26869 Pulmonary Fibrosis semapv:UnspecifiedMatching MONDO:0002771 pulmonary fibrosis skos:exactMatch SCTID:51615001 semapv:UnspecifiedMatching MONDO:0002771 pulmonary fibrosis skos:exactMatch UMLS:C0034069 semapv:UnspecifiedMatching MONDO:0002771 pulmonary fibrosis skos:exactMatch mesh:D011658 semapv:UnspecifiedMatching MONDO:0002772 intraventricular meningioma skos:exactMatch DOID:3772 intraventricular meningioma semapv:UnspecifiedMatching MONDO:0002772 intraventricular meningioma skos:exactMatch MEDGEN:232669 semapv:UnspecifiedMatching MONDO:0002772 intraventricular meningioma skos:exactMatch NCIT:C5273 Intraventricular Meningioma semapv:UnspecifiedMatching MONDO:0002772 intraventricular meningioma skos:exactMatch UMLS:C1334271 semapv:UnspecifiedMatching MONDO:0002775 anovulation skos:exactMatch DOID:3781 anovulation semapv:UnspecifiedMatching MONDO:0002775 anovulation skos:exactMatch MEDGEN:1951 semapv:UnspecifiedMatching MONDO:0002775 anovulation skos:exactMatch UMLS:C0003128 semapv:UnspecifiedMatching MONDO:0002775 anovulation skos:exactMatch icd11.foundation:563648258 Anovulation semapv:UnspecifiedMatching MONDO:0002775 anovulation skos:exactMatch mesh:D000858 semapv:UnspecifiedMatching MONDO:0002776 external ear disorder skos:exactMatch DOID:379 external ear disease semapv:UnspecifiedMatching MONDO:0002776 external ear disorder skos:exactMatch EFO:0009668 semapv:UnspecifiedMatching MONDO:0002776 external ear disorder skos:exactMatch ICD10CM:H60-H62 Diseases of external ear (H60-H62) semapv:UnspecifiedMatching MONDO:0002776 external ear disorder skos:exactMatch MEDGEN:57606 semapv:UnspecifiedMatching MONDO:0002776 external ear disorder skos:exactMatch NCIT:C26972 External Ear Disorder semapv:UnspecifiedMatching MONDO:0002776 external ear disorder skos:exactMatch SCTID:49130001 semapv:UnspecifiedMatching MONDO:0002776 external ear disorder skos:exactMatch UMLS:C0155388 semapv:UnspecifiedMatching MONDO:0002778 epidural spinal canal meningioma skos:exactMatch DOID:3809 epidural spinal canal meningioma semapv:UnspecifiedMatching MONDO:0002778 epidural spinal canal meningioma skos:exactMatch MEDGEN:232462 semapv:UnspecifiedMatching MONDO:0002778 epidural spinal canal meningioma skos:exactMatch NCIT:C5310 Epidural Spinal Cord Meningioma semapv:UnspecifiedMatching MONDO:0002778 epidural spinal canal meningioma skos:exactMatch UMLS:C1333417 semapv:UnspecifiedMatching MONDO:0002779 central nervous system chondroma skos:exactMatch DOID:3813 central nervous system chondroma semapv:UnspecifiedMatching MONDO:0002779 central nervous system chondroma skos:exactMatch MEDGEN:272474 semapv:UnspecifiedMatching MONDO:0002779 central nervous system chondroma skos:exactMatch NCIT:C7001 Central Nervous System Chondroma semapv:UnspecifiedMatching MONDO:0002779 central nervous system chondroma skos:exactMatch UMLS:C1333019 semapv:UnspecifiedMatching MONDO:0002781 glossopharyngeal nerve paralysis skos:exactMatch DOID:3816 glossopharyngeal nerve paralysis semapv:UnspecifiedMatching MONDO:0002781 glossopharyngeal nerve paralysis skos:exactMatch MEDGEN:1696475 semapv:UnspecifiedMatching MONDO:0002781 glossopharyngeal nerve paralysis skos:exactMatch NCIT:C27335 Glossopharyngeal Nerve Paralysis semapv:UnspecifiedMatching MONDO:0002781 glossopharyngeal nerve paralysis skos:exactMatch UMLS:C5231192 semapv:UnspecifiedMatching MONDO:0002782 cranial nerve palsy skos:exactMatch DOID:3817 cranial nerve palsy semapv:UnspecifiedMatching MONDO:0002782 cranial nerve palsy skos:exactMatch EFO:0009489 semapv:UnspecifiedMatching MONDO:0002782 cranial nerve palsy skos:exactMatch MEDGEN:57717 semapv:UnspecifiedMatching MONDO:0002782 cranial nerve palsy skos:exactMatch NCIT:C26941 Cranial Nerve Paralysis semapv:UnspecifiedMatching MONDO:0002782 cranial nerve palsy skos:exactMatch UMLS:C0151311 semapv:UnspecifiedMatching MONDO:0002783 Shwartzman phenomenon skos:exactMatch DOID:3825 Shwartzman phenomenon semapv:UnspecifiedMatching MONDO:0002783 Shwartzman phenomenon skos:exactMatch MEDGEN:48656 semapv:UnspecifiedMatching MONDO:0002783 Shwartzman phenomenon skos:exactMatch UMLS:C0037018 semapv:UnspecifiedMatching MONDO:0002783 Shwartzman phenomenon skos:exactMatch mesh:D012790 semapv:UnspecifiedMatching MONDO:0002785 skull base neoplasm skos:exactMatch DOID:3842 skull base cancer semapv:UnspecifiedMatching MONDO:0002785 skull base neoplasm skos:exactMatch MEDGEN:138208 semapv:UnspecifiedMatching MONDO:0002785 skull base neoplasm skos:exactMatch NCIT:C4676 Skull Base Neoplasm semapv:UnspecifiedMatching MONDO:0002785 skull base neoplasm skos:exactMatch UMLS:C0376527 semapv:UnspecifiedMatching MONDO:0002785 skull base neoplasm skos:exactMatch mesh:D019292 semapv:UnspecifiedMatching MONDO:0002786 diencephalic cancer skos:exactMatch DOID:3843 diencephalic neoplasm semapv:UnspecifiedMatching MONDO:0002786 diencephalic cancer skos:exactMatch MEDGEN:233659 semapv:UnspecifiedMatching MONDO:0002786 diencephalic cancer skos:exactMatch NCIT:C5126 Malignant Diencephalic Neoplasm semapv:UnspecifiedMatching MONDO:0002786 diencephalic cancer skos:exactMatch UMLS:C1334576 semapv:UnspecifiedMatching MONDO:0002787 adamantinous craniopharyngioma skos:exactMatch DOID:3846 adamantinous craniopharyngioma semapv:UnspecifiedMatching MONDO:0002787 adamantinous craniopharyngioma skos:exactMatch MEDGEN:98126 semapv:UnspecifiedMatching MONDO:0002787 adamantinous craniopharyngioma skos:exactMatch NCIT:C4726 Adamantinomatous Craniopharyngioma semapv:UnspecifiedMatching MONDO:0002787 adamantinous craniopharyngioma skos:exactMatch UMLS:C0431129 semapv:UnspecifiedMatching MONDO:0002788 papillary craniopharyngioma skos:exactMatch DOID:3847 papillary craniopharyngioma semapv:UnspecifiedMatching MONDO:0002788 papillary craniopharyngioma skos:exactMatch MEDGEN:98125 semapv:UnspecifiedMatching MONDO:0002788 papillary craniopharyngioma skos:exactMatch NCIT:C4725 Papillary Craniopharyngioma semapv:UnspecifiedMatching MONDO:0002788 papillary craniopharyngioma skos:exactMatch UMLS:C0431128 semapv:UnspecifiedMatching MONDO:0002789 hemangiopericytic tumor skos:exactMatch DOID:3850 hemangiopericytic tumor semapv:UnspecifiedMatching MONDO:0002789 hemangiopericytic tumor skos:exactMatch MEDGEN:99196 semapv:UnspecifiedMatching MONDO:0002789 hemangiopericytic tumor skos:exactMatch NCIT:C7076 Hemangiopericytic Neoplasm semapv:UnspecifiedMatching MONDO:0002789 hemangiopericytic tumor skos:exactMatch UMLS:C0476144 semapv:UnspecifiedMatching MONDO:0002790 seminal vesicle tumor skos:exactMatch DOID:3855 seminal vesicle tumor semapv:UnspecifiedMatching MONDO:0002790 seminal vesicle tumor skos:exactMatch MEDGEN:90967 semapv:UnspecifiedMatching MONDO:0002790 seminal vesicle tumor skos:exactMatch NCIT:C39908 Seminal Vesicle Neoplasm semapv:UnspecifiedMatching MONDO:0002790 seminal vesicle tumor skos:exactMatch SCTID:236740006 semapv:UnspecifiedMatching MONDO:0002790 seminal vesicle tumor skos:exactMatch UMLS:C0341767 semapv:UnspecifiedMatching MONDO:0002791 large cell medulloblastoma skos:exactMatch DOID:3857 large cell medulloblastoma semapv:UnspecifiedMatching MONDO:0002791 large cell medulloblastoma skos:exactMatch EFO:0008508 semapv:UnspecifiedMatching MONDO:0002791 large cell medulloblastoma skos:exactMatch MEDGEN:226852 semapv:UnspecifiedMatching MONDO:0002791 large cell medulloblastoma skos:exactMatch NCIT:C6904 Large Cell Medulloblastoma semapv:UnspecifiedMatching MONDO:0002791 large cell medulloblastoma skos:exactMatch UMLS:C1266180 semapv:UnspecifiedMatching MONDO:0002792 cerebellar vermis medulloblastoma skos:exactMatch DOID:3860 cerebellar vermis medulloblastoma semapv:UnspecifiedMatching MONDO:0002792 cerebellar vermis medulloblastoma skos:exactMatch MEDGEN:232044 semapv:UnspecifiedMatching MONDO:0002792 cerebellar vermis medulloblastoma skos:exactMatch NCIT:C5401 Cerebellar Vermis Medulloblastoma semapv:UnspecifiedMatching MONDO:0002792 cerebellar vermis medulloblastoma skos:exactMatch UMLS:C1332903 semapv:UnspecifiedMatching MONDO:0002794 adult medulloblastoma skos:exactMatch DOID:3864 adult medulloblastoma semapv:UnspecifiedMatching MONDO:0002794 adult medulloblastoma skos:exactMatch MEDGEN:78898 semapv:UnspecifiedMatching MONDO:0002794 adult medulloblastoma skos:exactMatch NCIT:C4011 Adult Medulloblastoma semapv:UnspecifiedMatching MONDO:0002794 adult medulloblastoma skos:exactMatch UMLS:C0278876 semapv:UnspecifiedMatching MONDO:0002795 adult central nervous system primitive neuroectodermal neoplasm skos:exactMatch DOID:3865 adult central nervous system embryonal tumor semapv:UnspecifiedMatching MONDO:0002795 adult central nervous system primitive neuroectodermal neoplasm skos:exactMatch MEDGEN:231039 semapv:UnspecifiedMatching MONDO:0002795 adult central nervous system primitive neuroectodermal neoplasm skos:exactMatch NCIT:C5411 Adult Central Nervous System Embryonal Tumor, Not Otherwise Specified semapv:UnspecifiedMatching MONDO:0002795 adult central nervous system primitive neuroectodermal neoplasm skos:exactMatch UMLS:C1332196 semapv:UnspecifiedMatching MONDO:0002796 melanotic medulloblastoma skos:exactMatch DOID:3868 melanotic medulloblastoma semapv:UnspecifiedMatching MONDO:0002796 melanotic medulloblastoma skos:exactMatch MEDGEN:224818 semapv:UnspecifiedMatching MONDO:0002796 melanotic medulloblastoma skos:exactMatch NCIT:C9497 Melanocytic Medulloblastoma semapv:UnspecifiedMatching MONDO:0002796 melanotic medulloblastoma skos:exactMatch UMLS:C1275668 semapv:UnspecifiedMatching MONDO:0002797 childhood medulloblastoma skos:exactMatch DOID:3869 childhood medulloblastoma semapv:UnspecifiedMatching MONDO:0002797 childhood medulloblastoma skos:exactMatch MEDGEN:75829 semapv:UnspecifiedMatching MONDO:0002797 childhood medulloblastoma skos:exactMatch NCIT:C3997 Childhood Medulloblastoma semapv:UnspecifiedMatching MONDO:0002797 childhood medulloblastoma skos:exactMatch UMLS:C0278510 semapv:UnspecifiedMatching MONDO:0002798 childhood central nervous system primitive neuroectodermal neoplasm skos:exactMatch DOID:3870 childhood central nervous system embryonal tumor semapv:UnspecifiedMatching MONDO:0002798 childhood central nervous system primitive neuroectodermal neoplasm skos:exactMatch MEDGEN:232347 semapv:UnspecifiedMatching MONDO:0002798 childhood central nervous system primitive neuroectodermal neoplasm skos:exactMatch NCIT:C5961 Childhood Central Nervous System Embryonal Tumor, Not Otherwise Specified semapv:UnspecifiedMatching MONDO:0002798 childhood central nervous system primitive neuroectodermal neoplasm skos:exactMatch UMLS:C1332957 semapv:UnspecifiedMatching MONDO:0002800 thrombophlebitis skos:exactMatch DOID:3875 thrombophlebitis semapv:UnspecifiedMatching MONDO:0002800 thrombophlebitis skos:exactMatch ICD10CM:I80.0 Phlebitis and thrombophlebitis of superficial vessels of lower extremities semapv:UnspecifiedMatching MONDO:0002800 thrombophlebitis skos:exactMatch MEDGEN:11799 semapv:UnspecifiedMatching MONDO:0002800 thrombophlebitis skos:exactMatch NCIT:C3410 Thrombophlebitis semapv:UnspecifiedMatching MONDO:0002800 thrombophlebitis skos:exactMatch SCTID:40283005 semapv:UnspecifiedMatching MONDO:0002800 thrombophlebitis skos:exactMatch UMLS:C0040046 semapv:UnspecifiedMatching MONDO:0002800 thrombophlebitis skos:exactMatch mesh:D013924 semapv:UnspecifiedMatching MONDO:0002801 colonic pseudo-obstruction skos:exactMatch DOID:3876 colonic pseudo-obstruction semapv:UnspecifiedMatching MONDO:0002801 colonic pseudo-obstruction skos:exactMatch MEDGEN:3167 semapv:UnspecifiedMatching MONDO:0002801 colonic pseudo-obstruction skos:exactMatch SCTID:35065006 semapv:UnspecifiedMatching MONDO:0002801 colonic pseudo-obstruction skos:exactMatch UMLS:C0009377 semapv:UnspecifiedMatching MONDO:0002801 colonic pseudo-obstruction skos:exactMatch mesh:D003112 semapv:UnspecifiedMatching MONDO:0002802 functional colonic disease skos:exactMatch DOID:3877 functional colonic disease semapv:UnspecifiedMatching MONDO:0002802 functional colonic disease skos:exactMatch MEDGEN:40395 semapv:UnspecifiedMatching MONDO:0002802 functional colonic disease skos:exactMatch UMLS:C0009374 semapv:UnspecifiedMatching MONDO:0002802 functional colonic disease skos:exactMatch mesh:D003109 semapv:UnspecifiedMatching MONDO:0002803 intestinal pseudo-obstruction skos:exactMatch MEDGEN:5864 semapv:UnspecifiedMatching MONDO:0002803 intestinal pseudo-obstruction skos:exactMatch NCIT:C34733 Intestinal Pseudo-Obstruction semapv:UnspecifiedMatching MONDO:0002803 intestinal pseudo-obstruction skos:exactMatch SCTID:235825006 semapv:UnspecifiedMatching MONDO:0002803 intestinal pseudo-obstruction skos:exactMatch UMLS:C0021847 semapv:UnspecifiedMatching MONDO:0002803 intestinal pseudo-obstruction skos:exactMatch mesh:D007418 semapv:UnspecifiedMatching MONDO:0002804 apocrine adenoma skos:exactMatch DOID:3895 apocrine adenoma semapv:UnspecifiedMatching MONDO:0002804 apocrine adenoma skos:exactMatch MEDGEN:90767 semapv:UnspecifiedMatching MONDO:0002804 apocrine adenoma skos:exactMatch NCIT:C4168 Apocrine Adenoma semapv:UnspecifiedMatching MONDO:0002804 apocrine adenoma skos:exactMatch SCTID:307596009 semapv:UnspecifiedMatching MONDO:0002804 apocrine adenoma skos:exactMatch UMLS:C0334345 semapv:UnspecifiedMatching MONDO:0002805 hidradenoma skos:exactMatch DOID:3896 hidradenoma semapv:UnspecifiedMatching MONDO:0002805 hidradenoma skos:exactMatch MEDGEN:1851798 semapv:UnspecifiedMatching MONDO:0002805 hidradenoma skos:exactMatch NCIT:C7563 Hidradenoma semapv:UnspecifiedMatching MONDO:0002805 hidradenoma skos:exactMatch UMLS:C5848251 semapv:UnspecifiedMatching MONDO:0002806 bronchogenic carcinoma skos:exactMatch DOID:3904 bronchus carcinoma semapv:UnspecifiedMatching MONDO:0002806 bronchogenic carcinoma skos:exactMatch EFO:1001942 semapv:UnspecifiedMatching MONDO:0002806 bronchogenic carcinoma skos:exactMatch MEDGEN:2872 semapv:UnspecifiedMatching MONDO:0002806 bronchogenic carcinoma skos:exactMatch NCIT:C35875 Bronchogenic Carcinoma semapv:UnspecifiedMatching MONDO:0002806 bronchogenic carcinoma skos:exactMatch SCTID:254622008 semapv:UnspecifiedMatching MONDO:0002806 bronchogenic carcinoma skos:exactMatch UMLS:C0007121 semapv:UnspecifiedMatching MONDO:0002806 bronchogenic carcinoma skos:exactMatch mesh:D002283 semapv:UnspecifiedMatching MONDO:0002807 bronchial neoplasm skos:exactMatch DOID:3906 bronchial benign neoplasm semapv:UnspecifiedMatching MONDO:0002807 bronchial neoplasm skos:exactMatch EFO:1000849 semapv:UnspecifiedMatching MONDO:0002807 bronchial neoplasm skos:exactMatch MEDGEN:2735 semapv:UnspecifiedMatching MONDO:0002807 bronchial neoplasm skos:exactMatch SCTID:126705004 semapv:UnspecifiedMatching MONDO:0002807 bronchial neoplasm skos:exactMatch UMLS:C0006264 semapv:UnspecifiedMatching MONDO:0002807 bronchial neoplasm skos:exactMatch mesh:D001984 semapv:UnspecifiedMatching MONDO:0002808 pancreatic serous cystadenoma skos:exactMatch DOID:3917 pancreatic serous cystadenoma semapv:UnspecifiedMatching MONDO:0002808 pancreatic serous cystadenoma skos:exactMatch MEDGEN:233833 semapv:UnspecifiedMatching MONDO:0002808 pancreatic serous cystadenoma skos:exactMatch NCIT:C5712 Pancreatic Serous Cystadenoma semapv:UnspecifiedMatching MONDO:0002808 pancreatic serous cystadenoma skos:exactMatch UMLS:C1335316 semapv:UnspecifiedMatching MONDO:0002808 pancreatic serous cystadenoma skos:exactMatch icd11.foundation:1362470566 Serous cystadenoma of pancreas semapv:UnspecifiedMatching MONDO:0002809 pancreatic cystadenoma skos:exactMatch DOID:3918 pancreatic cystadenoma semapv:UnspecifiedMatching MONDO:0002809 pancreatic cystadenoma skos:exactMatch MEDGEN:90963 semapv:UnspecifiedMatching MONDO:0002809 pancreatic cystadenoma skos:exactMatch SCTID:235967003 semapv:UnspecifiedMatching MONDO:0002809 pancreatic cystadenoma skos:exactMatch UMLS:C0341486 semapv:UnspecifiedMatching MONDO:0002810 pancreatic serous cystic neoplasm skos:exactMatch DOID:3919 pancreatic serous cystic neoplasm semapv:UnspecifiedMatching MONDO:0002810 pancreatic serous cystic neoplasm skos:exactMatch MEDGEN:274122 semapv:UnspecifiedMatching MONDO:0002810 pancreatic serous cystic neoplasm skos:exactMatch NCIT:C41248 Pancreatic Serous Neoplasm semapv:UnspecifiedMatching MONDO:0002810 pancreatic serous cystic neoplasm skos:exactMatch UMLS:C1518875 semapv:UnspecifiedMatching MONDO:0002811 main bronchus cancer skos:exactMatch DOID:3924 main bronchus cancer semapv:UnspecifiedMatching MONDO:0002811 main bronchus cancer skos:exactMatch ICD10CM:C34.0 Malignant neoplasm of main bronchus semapv:UnspecifiedMatching MONDO:0002811 main bronchus cancer skos:exactMatch MEDGEN:509307 semapv:UnspecifiedMatching MONDO:0002811 main bronchus cancer skos:exactMatch SCTID:372065009 semapv:UnspecifiedMatching MONDO:0002811 main bronchus cancer skos:exactMatch UMLS:C0153490 semapv:UnspecifiedMatching MONDO:0002812 infectious otitis interna skos:exactMatch MEDGEN:217000 semapv:UnspecifiedMatching MONDO:0002812 infectious otitis interna skos:exactMatch UMLS:C1168225 semapv:UnspecifiedMatching MONDO:0002813 lipomatous cancer skos:exactMatch SCTID:254828009 semapv:UnspecifiedMatching MONDO:0002814 adrenal carcinoma skos:exactMatch DOID:3950 adrenal carcinoma semapv:UnspecifiedMatching MONDO:0002814 adrenal carcinoma skos:exactMatch mesh:D018268 semapv:UnspecifiedMatching MONDO:0002815 acute myocarditis skos:exactMatch DOID:3951 acute myocarditis semapv:UnspecifiedMatching MONDO:0002815 acute myocarditis skos:exactMatch ICD10WHO:I40 Acute myocarditis semapv:UnspecifiedMatching MONDO:0002815 acute myocarditis skos:exactMatch MEDGEN:102339 semapv:UnspecifiedMatching MONDO:0002815 acute myocarditis skos:exactMatch NCIT:C35206 Acute Myocarditis semapv:UnspecifiedMatching MONDO:0002815 acute myocarditis skos:exactMatch SCTID:46701001 semapv:UnspecifiedMatching MONDO:0002815 acute myocarditis skos:exactMatch UMLS:C0155686 semapv:UnspecifiedMatching MONDO:0002816 adrenal cortex disorder skos:exactMatch DOID:3952 adrenal cortex disease semapv:UnspecifiedMatching MONDO:0002816 adrenal cortex disorder skos:exactMatch MEDGEN:154 semapv:UnspecifiedMatching MONDO:0002816 adrenal cortex disorder skos:exactMatch SCTID:129636003 semapv:UnspecifiedMatching MONDO:0002816 adrenal cortex disorder skos:exactMatch UMLS:C0001614 semapv:UnspecifiedMatching MONDO:0002816 adrenal cortex disorder skos:exactMatch mesh:D000303 semapv:UnspecifiedMatching MONDO:0002817 adrenal gland cancer skos:exactMatch DOID:3953 adrenal gland cancer semapv:UnspecifiedMatching MONDO:0002817 adrenal gland cancer skos:exactMatch ICD10CM:C74 Malignant neoplasm of adrenal gland semapv:UnspecifiedMatching MONDO:0002817 adrenal gland cancer skos:exactMatch MEDGEN:152909 semapv:UnspecifiedMatching MONDO:0002817 adrenal gland cancer skos:exactMatch NCIT:C9338 Malignant Adrenal Gland Neoplasm semapv:UnspecifiedMatching MONDO:0002817 adrenal gland cancer skos:exactMatch SCTID:127021009 semapv:UnspecifiedMatching MONDO:0002817 adrenal gland cancer skos:exactMatch UMLS:C0750887 semapv:UnspecifiedMatching MONDO:0002817 adrenal gland cancer skos:exactMatch icd11.foundation:1766185236 Malignant neoplasms of adrenal gland semapv:UnspecifiedMatching MONDO:0002817 adrenal gland cancer skos:exactMatch mesh:D000310 semapv:UnspecifiedMatching MONDO:0002821 trabecular follicular adenocarcinoma skos:exactMatch DOID:3964 trabecular follicular adenocarcinoma semapv:UnspecifiedMatching MONDO:0002821 trabecular follicular adenocarcinoma skos:exactMatch MEDGEN:569646 semapv:UnspecifiedMatching MONDO:0002821 trabecular follicular adenocarcinoma skos:exactMatch UMLS:C0334327 semapv:UnspecifiedMatching MONDO:0002822 trabecular adenocarcinoma skos:exactMatch DOID:3965 Merkel cell carcinoma semapv:UnspecifiedMatching MONDO:0002822 trabecular adenocarcinoma skos:exactMatch MEDGEN:86214 semapv:UnspecifiedMatching MONDO:0002822 trabecular adenocarcinoma skos:exactMatch NCIT:C4068 Trabecular Adenocarcinoma semapv:UnspecifiedMatching MONDO:0002822 trabecular adenocarcinoma skos:exactMatch UMLS:C0302182 semapv:UnspecifiedMatching MONDO:0002824 extrinsic cardiomyopathy skos:exactMatch DOID:3978 extrinsic cardiomyopathy semapv:UnspecifiedMatching MONDO:0002824 extrinsic cardiomyopathy skos:exactMatch MEDGEN:739084 semapv:UnspecifiedMatching MONDO:0002824 extrinsic cardiomyopathy skos:exactMatch SCTID:195029002 semapv:UnspecifiedMatching MONDO:0002824 extrinsic cardiomyopathy skos:exactMatch UMLS:C1689817 semapv:UnspecifiedMatching MONDO:0002828 Bartholin gland transitional cell carcinoma skos:exactMatch DOID:3998 Bartholin's gland transitional cell carcinoma semapv:UnspecifiedMatching MONDO:0002828 Bartholin gland transitional cell carcinoma skos:exactMatch MEDGEN:267340 semapv:UnspecifiedMatching MONDO:0002828 Bartholin gland transitional cell carcinoma skos:exactMatch NCIT:C40297 Bartholin Gland Transitional Cell Carcinoma semapv:UnspecifiedMatching MONDO:0002828 Bartholin gland transitional cell carcinoma skos:exactMatch UMLS:C1511053 semapv:UnspecifiedMatching MONDO:0002829 bartholin gland carcinoma skos:exactMatch DOID:3999 Bartholin's gland carcinoma semapv:UnspecifiedMatching MONDO:0002829 bartholin gland carcinoma skos:exactMatch DOID:60003 Bartholin's gland cancer semapv:UnspecifiedMatching MONDO:0002829 bartholin gland carcinoma skos:exactMatch EFO:1000103 semapv:UnspecifiedMatching MONDO:0002829 bartholin gland carcinoma skos:exactMatch MEDGEN:83888 semapv:UnspecifiedMatching MONDO:0002829 bartholin gland carcinoma skos:exactMatch NCIT:C9055 Bartholin Gland Carcinoma semapv:UnspecifiedMatching MONDO:0002829 bartholin gland carcinoma skos:exactMatch SCTID:276876007 semapv:UnspecifiedMatching MONDO:0002829 bartholin gland carcinoma skos:exactMatch UMLS:C0349561 semapv:UnspecifiedMatching MONDO:0002831 non-keratinizing sinonasal squamous cell carcinoma skos:exactMatch DOID:4003 Schneiderian carcinoma semapv:UnspecifiedMatching MONDO:0002831 non-keratinizing sinonasal squamous cell carcinoma skos:exactMatch MEDGEN:83119 semapv:UnspecifiedMatching MONDO:0002831 non-keratinizing sinonasal squamous cell carcinoma skos:exactMatch NCIT:C54287 Sinonasal Non-Keratinizing Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0002831 non-keratinizing sinonasal squamous cell carcinoma skos:exactMatch UMLS:C0334270 semapv:UnspecifiedMatching MONDO:0002832 endometrial transitional cell carcinoma skos:exactMatch DOID:4005 endometrial transitional cell carcinoma semapv:UnspecifiedMatching MONDO:0002832 endometrial transitional cell carcinoma skos:exactMatch MEDGEN:273232 semapv:UnspecifiedMatching MONDO:0002832 endometrial transitional cell carcinoma skos:exactMatch NCIT:C40154 Endometrial Transitional Cell Carcinoma semapv:UnspecifiedMatching MONDO:0002832 endometrial transitional cell carcinoma skos:exactMatch UMLS:C1516864 semapv:UnspecifiedMatching MONDO:0002833 fallopian tube transitional cell carcinoma skos:exactMatch DOID:4008 fallopian tube transitional cell carcinoma semapv:UnspecifiedMatching MONDO:0002833 fallopian tube transitional cell carcinoma skos:exactMatch MEDGEN:274492 semapv:UnspecifiedMatching MONDO:0002833 fallopian tube transitional cell carcinoma skos:exactMatch NCIT:C40104 Fallopian Tube Transitional Cell Carcinoma semapv:UnspecifiedMatching MONDO:0002833 fallopian tube transitional cell carcinoma skos:exactMatch UMLS:C1517128 semapv:UnspecifiedMatching MONDO:0002834 primary prostate urothelial carcinoma skos:exactMatch DOID:4011 prostate transitional cell carcinoma semapv:UnspecifiedMatching MONDO:0002834 primary prostate urothelial carcinoma skos:exactMatch MEDGEN:271382 semapv:UnspecifiedMatching MONDO:0002834 primary prostate urothelial carcinoma skos:exactMatch NCIT:C39898 Primary Prostate Urothelial Carcinoma semapv:UnspecifiedMatching MONDO:0002834 primary prostate urothelial carcinoma skos:exactMatch UMLS:C1514430 semapv:UnspecifiedMatching MONDO:0002836 urethra transitional cell carcinoma skos:exactMatch DOID:4013 urethra transitional cell carcinoma semapv:UnspecifiedMatching MONDO:0002836 urethra transitional cell carcinoma skos:exactMatch MEDGEN:167840 semapv:UnspecifiedMatching MONDO:0002836 urethra transitional cell carcinoma skos:exactMatch NCIT:C6166 Urethral Urothelial Carcinoma semapv:UnspecifiedMatching MONDO:0002836 urethra transitional cell carcinoma skos:exactMatch UMLS:C0863015 semapv:UnspecifiedMatching MONDO:0002837 sarcomatoid transitional cell carcinoma skos:exactMatch DOID:4014 sarcomatoid transitional cell carcinoma semapv:UnspecifiedMatching MONDO:0002837 sarcomatoid transitional cell carcinoma skos:exactMatch MEDGEN:83120 semapv:UnspecifiedMatching MONDO:0002837 sarcomatoid transitional cell carcinoma skos:exactMatch NCIT:C4120 Sarcomatoid Transitional Cell Carcinoma semapv:UnspecifiedMatching MONDO:0002837 sarcomatoid transitional cell carcinoma skos:exactMatch UMLS:C0334271 semapv:UnspecifiedMatching MONDO:0002840 eosinophilic gastritis skos:exactMatch DOID:4030 eosinophilic gastritis semapv:UnspecifiedMatching MONDO:0002840 eosinophilic gastritis skos:exactMatch MEDGEN:120598 semapv:UnspecifiedMatching MONDO:0002840 eosinophilic gastritis skos:exactMatch NCIT:C27052 Eosinophilic Gastritis semapv:UnspecifiedMatching MONDO:0002840 eosinophilic gastritis skos:exactMatch SCTID:66329006 semapv:UnspecifiedMatching MONDO:0002840 eosinophilic gastritis skos:exactMatch UMLS:C0267154 semapv:UnspecifiedMatching MONDO:0002840 eosinophilic gastritis skos:exactMatch icd11.foundation:1944772274 Eosinophilic gastritis semapv:UnspecifiedMatching MONDO:0002842 bacterial gastritis skos:exactMatch DOID:4033 bacterial gastritis semapv:UnspecifiedMatching MONDO:0002842 bacterial gastritis skos:exactMatch MEDGEN:182680 semapv:UnspecifiedMatching MONDO:0002842 bacterial gastritis skos:exactMatch NCIT:C27340 Bacterial Gastritis semapv:UnspecifiedMatching MONDO:0002842 bacterial gastritis skos:exactMatch SCTID:723096000 semapv:UnspecifiedMatching MONDO:0002842 bacterial gastritis skos:exactMatch UMLS:C0948039 semapv:UnspecifiedMatching MONDO:0002843 fungal gastritis skos:exactMatch DOID:4034 fungal gastritis semapv:UnspecifiedMatching MONDO:0002843 fungal gastritis skos:exactMatch MEDGEN:181761 semapv:UnspecifiedMatching MONDO:0002843 fungal gastritis skos:exactMatch NCIT:C27342 Fungal Gastritis semapv:UnspecifiedMatching MONDO:0002843 fungal gastritis skos:exactMatch SCTID:723097009 semapv:UnspecifiedMatching MONDO:0002843 fungal gastritis skos:exactMatch UMLS:C0948638 semapv:UnspecifiedMatching MONDO:0002844 lymphocytic gastritis skos:exactMatch DOID:4035 lymphocytic gastritis semapv:UnspecifiedMatching MONDO:0002844 lymphocytic gastritis skos:exactMatch MEDGEN:266188 semapv:UnspecifiedMatching MONDO:0002844 lymphocytic gastritis skos:exactMatch NCIT:C27051 Lymphocytic Gastritis semapv:UnspecifiedMatching MONDO:0002844 lymphocytic gastritis skos:exactMatch SCTID:360375007 semapv:UnspecifiedMatching MONDO:0002844 lymphocytic gastritis skos:exactMatch UMLS:C1283271 semapv:UnspecifiedMatching MONDO:0002844 lymphocytic gastritis skos:exactMatch icd11.foundation:2052188597 Lymphocytic gastritis semapv:UnspecifiedMatching MONDO:0002845 necrotizing gastritis skos:exactMatch DOID:4037 necrotizing gastritis semapv:UnspecifiedMatching MONDO:0002845 necrotizing gastritis skos:exactMatch MEDGEN:209092 semapv:UnspecifiedMatching MONDO:0002845 necrotizing gastritis skos:exactMatch NCIT:C27329 Necrotizing Gastritis semapv:UnspecifiedMatching MONDO:0002845 necrotizing gastritis skos:exactMatch UMLS:C0877152 semapv:UnspecifiedMatching MONDO:0002846 granulomatous gastritis skos:exactMatch DOID:4038 granulomatous gastritis semapv:UnspecifiedMatching MONDO:0002846 granulomatous gastritis skos:exactMatch MEDGEN:207272 semapv:UnspecifiedMatching MONDO:0002846 granulomatous gastritis skos:exactMatch NCIT:C27348 Granulomatous Gastritis semapv:UnspecifiedMatching MONDO:0002846 granulomatous gastritis skos:exactMatch UMLS:C1112577 semapv:UnspecifiedMatching MONDO:0002847 skeletal muscle cancer skos:exactMatch DOID:4043 skeletal muscle cancer semapv:UnspecifiedMatching MONDO:0002847 skeletal muscle cancer skos:exactMatch MEDGEN:233669 semapv:UnspecifiedMatching MONDO:0002847 skeletal muscle cancer skos:exactMatch NCIT:C6516 Malignant Skeletal Muscle Neoplasm semapv:UnspecifiedMatching MONDO:0002847 skeletal muscle cancer skos:exactMatch UMLS:C1334619 semapv:UnspecifiedMatching MONDO:0002848 skeletal muscle neoplasm skos:exactMatch DOID:4044 skeletal muscle neoplasm semapv:UnspecifiedMatching MONDO:0002848 skeletal muscle neoplasm skos:exactMatch MEDGEN:236817 semapv:UnspecifiedMatching MONDO:0002848 skeletal muscle neoplasm skos:exactMatch NCIT:C6514 Skeletal Muscle Neoplasm semapv:UnspecifiedMatching MONDO:0002848 skeletal muscle neoplasm skos:exactMatch SCTID:699955004 semapv:UnspecifiedMatching MONDO:0002848 skeletal muscle neoplasm skos:exactMatch UMLS:C1335971 semapv:UnspecifiedMatching MONDO:0002849 liver rhabdomyosarcoma skos:exactMatch DOID:4047 liver rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0002849 liver rhabdomyosarcoma skos:exactMatch MEDGEN:232598 semapv:UnspecifiedMatching MONDO:0002849 liver rhabdomyosarcoma skos:exactMatch NCIT:C5834 Liver Rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0002849 liver rhabdomyosarcoma skos:exactMatch UMLS:C1333975 semapv:UnspecifiedMatching MONDO:0002850 central nervous system rhabdomyosarcoma skos:exactMatch DOID:4048 central nervous system rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0002850 central nervous system rhabdomyosarcoma skos:exactMatch MEDGEN:232043 semapv:UnspecifiedMatching MONDO:0002850 central nervous system rhabdomyosarcoma skos:exactMatch NCIT:C5464 Central Nervous System Rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0002850 central nervous system rhabdomyosarcoma skos:exactMatch UMLS:C1332891 semapv:UnspecifiedMatching MONDO:0002851 mediastinum rhabdomyosarcoma skos:exactMatch DOID:4049 mediastinum rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0002851 mediastinum rhabdomyosarcoma skos:exactMatch MEDGEN:233686 semapv:UnspecifiedMatching MONDO:0002851 mediastinum rhabdomyosarcoma skos:exactMatch NCIT:C6617 Mediastinal Rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0002851 mediastinum rhabdomyosarcoma skos:exactMatch UMLS:C1334677 semapv:UnspecifiedMatching MONDO:0002852 mediastinum sarcoma skos:exactMatch DOID:4050 mediastinum sarcoma semapv:UnspecifiedMatching MONDO:0002852 mediastinum sarcoma skos:exactMatch MEDGEN:233687 semapv:UnspecifiedMatching MONDO:0002852 mediastinum sarcoma skos:exactMatch NCIT:C6606 Mediastinal Sarcoma semapv:UnspecifiedMatching MONDO:0002852 mediastinum sarcoma skos:exactMatch UMLS:C1334678 semapv:UnspecifiedMatching MONDO:0002853 rectum rhabdomyosarcoma skos:exactMatch DOID:4053 rectum rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0002853 rectum rhabdomyosarcoma skos:exactMatch MEDGEN:235532 semapv:UnspecifiedMatching MONDO:0002853 rectum rhabdomyosarcoma skos:exactMatch NCIT:C5627 Rectal Rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0002853 rectum rhabdomyosarcoma skos:exactMatch UMLS:C1335687 semapv:UnspecifiedMatching MONDO:0002854 prostate sarcoma skos:exactMatch DOID:4054 prostate sarcoma semapv:UnspecifiedMatching MONDO:0002854 prostate sarcoma skos:exactMatch MEDGEN:116060 semapv:UnspecifiedMatching MONDO:0002854 prostate sarcoma skos:exactMatch NCIT:C7731 Prostate Sarcoma semapv:UnspecifiedMatching MONDO:0002854 prostate sarcoma skos:exactMatch UMLS:C0238393 semapv:UnspecifiedMatching MONDO:0002855 ectomesenchymoma skos:exactMatch DOID:4055 ectomesenchymoma semapv:UnspecifiedMatching MONDO:0002855 ectomesenchymoma skos:exactMatch MEDGEN:98123 semapv:UnspecifiedMatching MONDO:0002855 ectomesenchymoma skos:exactMatch NCIT:C4716 Ectomesenchymoma semapv:UnspecifiedMatching MONDO:0002855 ectomesenchymoma skos:exactMatch UMLS:C0431111 semapv:UnspecifiedMatching MONDO:0002856 gallbladder rhabdomyosarcoma skos:exactMatch DOID:4057 gallbladder rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0002856 gallbladder rhabdomyosarcoma skos:exactMatch MEDGEN:234294 semapv:UnspecifiedMatching MONDO:0002856 gallbladder rhabdomyosarcoma skos:exactMatch NCIT:C5839 Gallbladder Rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0002856 gallbladder rhabdomyosarcoma skos:exactMatch UMLS:C1333756 semapv:UnspecifiedMatching MONDO:0002857 gallbladder sarcoma skos:exactMatch DOID:4058 gallbladder sarcoma semapv:UnspecifiedMatching MONDO:0002857 gallbladder sarcoma skos:exactMatch MEDGEN:232227 semapv:UnspecifiedMatching MONDO:0002857 gallbladder sarcoma skos:exactMatch NCIT:C5736 Gallbladder Sarcoma semapv:UnspecifiedMatching MONDO:0002857 gallbladder sarcoma skos:exactMatch UMLS:C1333757 semapv:UnspecifiedMatching MONDO:0002858 ovary rhabdomyosarcoma skos:exactMatch DOID:4059 ovary rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0002858 ovary rhabdomyosarcoma skos:exactMatch MEDGEN:233277 semapv:UnspecifiedMatching MONDO:0002858 ovary rhabdomyosarcoma skos:exactMatch NCIT:C5236 Ovarian Rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0002858 ovary rhabdomyosarcoma skos:exactMatch UMLS:C1335176 semapv:UnspecifiedMatching MONDO:0002859 breast rhabdomyosarcoma skos:exactMatch DOID:4060 breast rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0002859 breast rhabdomyosarcoma skos:exactMatch MEDGEN:231970 semapv:UnspecifiedMatching MONDO:0002859 breast rhabdomyosarcoma skos:exactMatch NCIT:C5190 Breast Rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0002859 breast rhabdomyosarcoma skos:exactMatch UMLS:C1332637 semapv:UnspecifiedMatching MONDO:0002860 testis rhabdomyosarcoma skos:exactMatch DOID:4061 testis rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0002860 testis rhabdomyosarcoma skos:exactMatch MEDGEN:234942 semapv:UnspecifiedMatching MONDO:0002860 testis rhabdomyosarcoma skos:exactMatch NCIT:C6378 Testicular Rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0002860 testis rhabdomyosarcoma skos:exactMatch UMLS:C1336726 semapv:UnspecifiedMatching MONDO:0002861 testis sarcoma skos:exactMatch DOID:4062 testis sarcoma semapv:UnspecifiedMatching MONDO:0002861 testis sarcoma skos:exactMatch MEDGEN:234943 semapv:UnspecifiedMatching MONDO:0002861 testis sarcoma skos:exactMatch NCIT:C6359 Testicular Sarcoma semapv:UnspecifiedMatching MONDO:0002861 testis sarcoma skos:exactMatch UMLS:C1336727 semapv:UnspecifiedMatching MONDO:0002862 bile duct sarcoma skos:exactMatch DOID:4064 bile duct sarcoma semapv:UnspecifiedMatching MONDO:0002863 rhabdomyosarcoma with mixed embryonal and alveolar features skos:exactMatch DOID:4065 mixed type rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0002863 rhabdomyosarcoma with mixed embryonal and alveolar features skos:exactMatch MEDGEN:313444 semapv:UnspecifiedMatching MONDO:0002863 rhabdomyosarcoma with mixed embryonal and alveolar features skos:exactMatch NCIT:C4259 Rhabdomyosarcoma with Mixed Embryonal and Alveolar Features semapv:UnspecifiedMatching MONDO:0002863 rhabdomyosarcoma with mixed embryonal and alveolar features skos:exactMatch UMLS:C1709053 semapv:UnspecifiedMatching MONDO:0002864 anus rhabdomyosarcoma skos:exactMatch DOID:4066 anus rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0002864 anus rhabdomyosarcoma skos:exactMatch MEDGEN:231065 semapv:UnspecifiedMatching MONDO:0002864 anus rhabdomyosarcoma skos:exactMatch NCIT:C5610 Anal Rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0002864 anus rhabdomyosarcoma skos:exactMatch UMLS:C1332276 semapv:UnspecifiedMatching MONDO:0002865 anus sarcoma skos:exactMatch DOID:4067 anus sarcoma semapv:UnspecifiedMatching MONDO:0002865 anus sarcoma skos:exactMatch MEDGEN:233982 semapv:UnspecifiedMatching MONDO:0002865 anus sarcoma skos:exactMatch NCIT:C5611 Anal Sarcoma semapv:UnspecifiedMatching MONDO:0002865 anus sarcoma skos:exactMatch UMLS:C1332277 semapv:UnspecifiedMatching MONDO:0002866 duodenal disorder skos:exactMatch DOID:4072 duodenum disease semapv:UnspecifiedMatching MONDO:0002866 duodenal disorder skos:exactMatch MEDGEN:8502 semapv:UnspecifiedMatching MONDO:0002866 duodenal disorder skos:exactMatch SCTID:52182008 semapv:UnspecifiedMatching MONDO:0002866 duodenal disorder skos:exactMatch UMLS:C0013289 semapv:UnspecifiedMatching MONDO:0002866 duodenal disorder skos:exactMatch icd11.foundation:1195691020 Diseases of duodenum semapv:UnspecifiedMatching MONDO:0002866 duodenal disorder skos:exactMatch mesh:D004378 semapv:UnspecifiedMatching MONDO:0002867 pancreatic cystadenocarcinoma skos:exactMatch DOID:4073 pancreatic cystadenocarcinoma semapv:UnspecifiedMatching MONDO:0002867 pancreatic cystadenocarcinoma skos:exactMatch MEDGEN:66767 semapv:UnspecifiedMatching MONDO:0002867 pancreatic cystadenocarcinoma skos:exactMatch NCIT:C3874 Pancreatic Cystadenocarcinoma semapv:UnspecifiedMatching MONDO:0002867 pancreatic cystadenocarcinoma skos:exactMatch SCTID:235966007 semapv:UnspecifiedMatching MONDO:0002867 pancreatic cystadenocarcinoma skos:exactMatch UMLS:C0238337 semapv:UnspecifiedMatching MONDO:0002868 bile duct mucinous cystic neoplasm with an associated invasive carcinoma skos:exactMatch DOID:4075 bile duct cystadenocarcinoma semapv:UnspecifiedMatching MONDO:0002868 bile duct mucinous cystic neoplasm with an associated invasive carcinoma skos:exactMatch MEDGEN:137737 semapv:UnspecifiedMatching MONDO:0002868 bile duct mucinous cystic neoplasm with an associated invasive carcinoma skos:exactMatch NCIT:C4130 Bile Duct Mucinous Cystic Neoplasm with an Associated Invasive Carcinoma semapv:UnspecifiedMatching MONDO:0002868 bile duct mucinous cystic neoplasm with an associated invasive carcinoma skos:exactMatch UMLS:C0334286 semapv:UnspecifiedMatching MONDO:0002869 heart valve disorder skos:exactMatch DOID:4079 heart valve disease semapv:UnspecifiedMatching MONDO:0002869 heart valve disorder skos:exactMatch EFO:0009551 semapv:UnspecifiedMatching MONDO:0002869 heart valve disorder skos:exactMatch MEDGEN:5463 semapv:UnspecifiedMatching MONDO:0002869 heart valve disorder skos:exactMatch NCIT:C45525 Valvular Heart Disorder semapv:UnspecifiedMatching MONDO:0002869 heart valve disorder skos:exactMatch SCTID:368009 semapv:UnspecifiedMatching MONDO:0002869 heart valve disorder skos:exactMatch UMLS:C0018824 semapv:UnspecifiedMatching MONDO:0002869 heart valve disorder skos:exactMatch icd11.foundation:1121431779 Heart valve diseases semapv:UnspecifiedMatching MONDO:0002869 heart valve disorder skos:exactMatch mesh:D006349 semapv:UnspecifiedMatching MONDO:0002870 tricuspid valve insufficiency skos:exactMatch DOID:4080 tricuspid valve insufficiency semapv:UnspecifiedMatching MONDO:0002870 tricuspid valve insufficiency skos:exactMatch MEDGEN:11911 semapv:UnspecifiedMatching MONDO:0002870 tricuspid valve insufficiency skos:exactMatch NCIT:C50842 Tricuspid Valve Insufficiency semapv:UnspecifiedMatching MONDO:0002870 tricuspid valve insufficiency skos:exactMatch SCTID:111287006 semapv:UnspecifiedMatching MONDO:0002870 tricuspid valve insufficiency skos:exactMatch UMLS:C0040961 semapv:UnspecifiedMatching MONDO:0002870 tricuspid valve insufficiency skos:exactMatch icd11.foundation:770887951 Tricuspid valve insufficiency semapv:UnspecifiedMatching MONDO:0002870 tricuspid valve insufficiency skos:exactMatch mesh:D014262 semapv:UnspecifiedMatching MONDO:0002871 testicular trophoblastic tumor skos:exactMatch DOID:4084 testicular trophoblastic tumor semapv:UnspecifiedMatching MONDO:0002871 testicular trophoblastic tumor skos:exactMatch MEDGEN:272844 semapv:UnspecifiedMatching MONDO:0002871 testicular trophoblastic tumor skos:exactMatch NCIT:C39934 Testicular Trophoblastic Tumor semapv:UnspecifiedMatching MONDO:0002871 testicular trophoblastic tumor skos:exactMatch UMLS:C1515301 semapv:UnspecifiedMatching MONDO:0002872 trophoblastic neoplasm skos:exactMatch DOID:4085 trophoblastic neoplasm semapv:UnspecifiedMatching MONDO:0002872 trophoblastic neoplasm skos:exactMatch MEDGEN:21708 semapv:UnspecifiedMatching MONDO:0002872 trophoblastic neoplasm skos:exactMatch NCIT:C3422 Trophoblastic Tumor semapv:UnspecifiedMatching MONDO:0002872 trophoblastic neoplasm skos:exactMatch UMLS:C0041182 semapv:UnspecifiedMatching MONDO:0002872 trophoblastic neoplasm skos:exactMatch mesh:D014328 semapv:UnspecifiedMatching MONDO:0002874 testicular pure germ cell tumor skos:exactMatch DOID:4087 testicular pure germ cell tumor semapv:UnspecifiedMatching MONDO:0002874 testicular pure germ cell tumor skos:exactMatch MEDGEN:308089 semapv:UnspecifiedMatching MONDO:0002874 testicular pure germ cell tumor skos:exactMatch NCIT:C39915 Testicular Pure Germ Cell Tumor semapv:UnspecifiedMatching MONDO:0002874 testicular pure germ cell tumor skos:exactMatch UMLS:C1514608 semapv:UnspecifiedMatching MONDO:0002875 parasitic ectoparasitic infectious disease skos:exactMatch DOID:4110 parasitic ectoparasitic infectious disease semapv:UnspecifiedMatching MONDO:0002875 parasitic ectoparasitic infectious disease skos:exactMatch ICD10CM:B85-B89 Pediculosis, acariasis and other infestations (B85-B89) semapv:UnspecifiedMatching MONDO:0002875 parasitic ectoparasitic infectious disease skos:exactMatch MEDGEN:3964 semapv:UnspecifiedMatching MONDO:0002875 parasitic ectoparasitic infectious disease skos:exactMatch UMLS:C0013578 semapv:UnspecifiedMatching MONDO:0002875 parasitic ectoparasitic infectious disease skos:exactMatch mesh:D004478 semapv:UnspecifiedMatching MONDO:0002876 cervical adenosarcoma skos:exactMatch DOID:4111 cervical adenosarcoma semapv:UnspecifiedMatching MONDO:0002876 cervical adenosarcoma skos:exactMatch MEDGEN:308948 semapv:UnspecifiedMatching MONDO:0002876 cervical adenosarcoma skos:exactMatch NCIT:C40229 Cervical Adenosarcoma semapv:UnspecifiedMatching MONDO:0002876 cervical adenosarcoma skos:exactMatch Orphanet:213792 Adenosarcoma of the cervix uteri semapv:UnspecifiedMatching MONDO:0002876 cervical adenosarcoma skos:exactMatch SCTID:764847000 semapv:UnspecifiedMatching MONDO:0002876 cervical adenosarcoma skos:exactMatch UMLS:C1516426 semapv:UnspecifiedMatching MONDO:0002877 cervical carcinosarcoma skos:exactMatch DOID:4112 cervical carcinosarcoma semapv:UnspecifiedMatching MONDO:0002877 cervical carcinosarcoma skos:exactMatch MEDGEN:232338 semapv:UnspecifiedMatching MONDO:0002877 cervical carcinosarcoma skos:exactMatch NCIT:C36097 Cervical Carcinosarcoma semapv:UnspecifiedMatching MONDO:0002877 cervical carcinosarcoma skos:exactMatch Orphanet:213787 Carcinosarcoma of the cervix uteri semapv:UnspecifiedMatching MONDO:0002877 cervical carcinosarcoma skos:exactMatch SCTID:764951002 semapv:UnspecifiedMatching MONDO:0002877 cervical carcinosarcoma skos:exactMatch UMLS:C1332917 semapv:UnspecifiedMatching MONDO:0002878 uterine corpus adenosarcoma skos:exactMatch DOID:4113 uterine corpus adenosarcoma semapv:UnspecifiedMatching MONDO:0002878 uterine corpus adenosarcoma skos:exactMatch MEDGEN:237042 semapv:UnspecifiedMatching MONDO:0002878 uterine corpus adenosarcoma skos:exactMatch NCIT:C6336 Uterine Corpus Adenosarcoma semapv:UnspecifiedMatching MONDO:0002878 uterine corpus adenosarcoma skos:exactMatch Orphanet:213600 Adenosarcoma of the corpus uteri semapv:UnspecifiedMatching MONDO:0002878 uterine corpus adenosarcoma skos:exactMatch UMLS:C1336917 semapv:UnspecifiedMatching MONDO:0002878 uterine corpus adenosarcoma skos:exactMatch mesh:C538232 semapv:UnspecifiedMatching MONDO:0002879 uterine body mixed cancer skos:exactMatch DOID:4114 uterine body mixed cancer semapv:UnspecifiedMatching MONDO:0002879 uterine body mixed cancer skos:exactMatch MEDGEN:233163 semapv:UnspecifiedMatching MONDO:0002879 uterine body mixed cancer skos:exactMatch NCIT:C6311 Malignant Uterine Corpus Mixed Epithelial and Mesenchymal Neoplasm semapv:UnspecifiedMatching MONDO:0002879 uterine body mixed cancer skos:exactMatch UMLS:C1334628 semapv:UnspecifiedMatching MONDO:0002880 ovarian adenosarcoma skos:exactMatch DOID:4115 ovarian mesodermal adenosarcoma semapv:UnspecifiedMatching MONDO:0002880 ovarian adenosarcoma skos:exactMatch MEDGEN:277458 semapv:UnspecifiedMatching MONDO:0002880 ovarian adenosarcoma skos:exactMatch NCIT:C7317 Ovarian Adenosarcoma semapv:UnspecifiedMatching MONDO:0002880 ovarian adenosarcoma skos:exactMatch UMLS:C1335169 semapv:UnspecifiedMatching MONDO:0002881 vaginal adenosarcoma skos:exactMatch DOID:4117 vaginal adenosarcoma semapv:UnspecifiedMatching MONDO:0002881 vaginal adenosarcoma skos:exactMatch MEDGEN:274378 semapv:UnspecifiedMatching MONDO:0002881 vaginal adenosarcoma skos:exactMatch NCIT:C40277 Vaginal Adenosarcoma semapv:UnspecifiedMatching MONDO:0002881 vaginal adenosarcoma skos:exactMatch UMLS:C1519914 semapv:UnspecifiedMatching MONDO:0002882 colon neuroendocrine neoplasm skos:exactMatch DOID:4118 colon neuroendocrine neoplasm semapv:UnspecifiedMatching MONDO:0002882 colon neuroendocrine neoplasm skos:exactMatch MEDGEN:234162 semapv:UnspecifiedMatching MONDO:0002882 colon neuroendocrine neoplasm skos:exactMatch NCIT:C5697 Colon Neuroendocrine Neoplasm semapv:UnspecifiedMatching MONDO:0002882 colon neuroendocrine neoplasm skos:exactMatch Orphanet:100080 Neuroendocrine tumor of the colon semapv:UnspecifiedMatching MONDO:0002882 colon neuroendocrine neoplasm skos:exactMatch UMLS:C1333097 semapv:UnspecifiedMatching MONDO:0002882 colon neuroendocrine neoplasm skos:exactMatch icd11.foundation:144503516 Neuroendocrine neoplasm of colon semapv:UnspecifiedMatching MONDO:0002883 intestinal neuroendocrine neoplasm skos:exactMatch DOID:4119 intestinal neuroendocrine benign tumor semapv:UnspecifiedMatching MONDO:0002883 intestinal neuroendocrine neoplasm skos:exactMatch MEDGEN:233567 semapv:UnspecifiedMatching MONDO:0002883 intestinal neuroendocrine neoplasm skos:exactMatch NCIT:C5695 Intestinal Neuroendocrine Neoplasm semapv:UnspecifiedMatching MONDO:0002883 intestinal neuroendocrine neoplasm skos:exactMatch UMLS:C1334231 semapv:UnspecifiedMatching MONDO:0002884 nail disorder skos:exactMatch DOID:4123 nail disease semapv:UnspecifiedMatching MONDO:0002884 nail disorder skos:exactMatch MEDGEN:10171 semapv:UnspecifiedMatching MONDO:0002884 nail disorder skos:exactMatch SCTID:17790008 semapv:UnspecifiedMatching MONDO:0002884 nail disorder skos:exactMatch UMLS:C0027339 semapv:UnspecifiedMatching MONDO:0002884 nail disorder skos:exactMatch mesh:D009260 semapv:UnspecifiedMatching MONDO:0002885 erythrasma skos:exactMatch DOID:4131 erythrasma semapv:UnspecifiedMatching MONDO:0002885 erythrasma skos:exactMatch ICD10CM:L08.1 Erythrasma semapv:UnspecifiedMatching MONDO:0002885 erythrasma skos:exactMatch MEDGEN:4529 semapv:UnspecifiedMatching MONDO:0002885 erythrasma skos:exactMatch SCTID:264207005 semapv:UnspecifiedMatching MONDO:0002885 erythrasma skos:exactMatch UMLS:C0014752 semapv:UnspecifiedMatching MONDO:0002885 erythrasma skos:exactMatch icd11.foundation:272312002 Erythrasma semapv:UnspecifiedMatching MONDO:0002885 erythrasma skos:exactMatch mesh:D004894 semapv:UnspecifiedMatching MONDO:0002886 common bile duct disorder skos:exactMatch DOID:4137 common bile duct disease semapv:UnspecifiedMatching MONDO:0002886 common bile duct disorder skos:exactMatch MEDGEN:3545 semapv:UnspecifiedMatching MONDO:0002886 common bile duct disorder skos:exactMatch UMLS:C0009440 semapv:UnspecifiedMatching MONDO:0002886 common bile duct disorder skos:exactMatch mesh:D003137 semapv:UnspecifiedMatching MONDO:0002887 bile duct disorder skos:exactMatch DOID:4138 bile duct disease semapv:UnspecifiedMatching MONDO:0002887 bile duct disorder skos:exactMatch MEDGEN:2240 semapv:UnspecifiedMatching MONDO:0002887 bile duct disorder skos:exactMatch NCIT:C96716 Bile Duct Disorder semapv:UnspecifiedMatching MONDO:0002887 bile duct disorder skos:exactMatch SCTID:118926004 semapv:UnspecifiedMatching MONDO:0002887 bile duct disorder skos:exactMatch UMLS:C0005395 semapv:UnspecifiedMatching MONDO:0002887 bile duct disorder skos:exactMatch mesh:D001649 semapv:UnspecifiedMatching MONDO:0002888 intraorbital meningioma skos:exactMatch DOID:4141 intraorbital meningioma semapv:UnspecifiedMatching MONDO:0002888 intraorbital meningioma skos:exactMatch MEDGEN:272773 semapv:UnspecifiedMatching MONDO:0002888 intraorbital meningioma skos:exactMatch NCIT:C6778 Orbital Meningioma semapv:UnspecifiedMatching MONDO:0002888 intraorbital meningioma skos:exactMatch UMLS:C1334261 semapv:UnspecifiedMatching MONDO:0002889 orbital cancer skos:exactMatch DOID:4143 orbital cancer semapv:UnspecifiedMatching MONDO:0002889 orbital cancer skos:exactMatch EFO:0007408 semapv:UnspecifiedMatching MONDO:0002889 orbital cancer skos:exactMatch ICD10CM:C69.6 Malignant neoplasm of orbit semapv:UnspecifiedMatching MONDO:0002889 orbital cancer skos:exactMatch MEDGEN:56314 semapv:UnspecifiedMatching MONDO:0002889 orbital cancer skos:exactMatch NCIT:C3562 Malignant Orbital Neoplasm semapv:UnspecifiedMatching MONDO:0002889 orbital cancer skos:exactMatch SCTID:127003006 semapv:UnspecifiedMatching MONDO:0002889 orbital cancer skos:exactMatch UMLS:C0153626 semapv:UnspecifiedMatching MONDO:0002889 orbital cancer skos:exactMatch icd11.foundation:1872149350 Malignant neoplasm of orbit semapv:UnspecifiedMatching MONDO:0002891 obsolete gastrointestinal neuroendocrine benign tumor skos:exactMatch DOID:4148 gastrointestinal neuroendocrine benign tumor semapv:UnspecifiedMatching MONDO:0002892 skull base chordoma skos:exactMatch DOID:4151 skull base chordoma semapv:UnspecifiedMatching MONDO:0002892 skull base chordoma skos:exactMatch MEDGEN:233448 semapv:UnspecifiedMatching MONDO:0002892 skull base chordoma skos:exactMatch NCIT:C5453 Skull Base Chordoma semapv:UnspecifiedMatching MONDO:0002892 skull base chordoma skos:exactMatch UMLS:C1335975 semapv:UnspecifiedMatching MONDO:0002894 spinal chordoma skos:exactMatch DOID:4153 spinal chordoma semapv:UnspecifiedMatching MONDO:0002894 spinal chordoma skos:exactMatch EFO:1000543 semapv:UnspecifiedMatching MONDO:0002894 spinal chordoma skos:exactMatch MEDGEN:347800 semapv:UnspecifiedMatching MONDO:0002894 spinal chordoma skos:exactMatch NCIT:C5156 Spinal Chordoma semapv:UnspecifiedMatching MONDO:0002894 spinal chordoma skos:exactMatch UMLS:C1859101 semapv:UnspecifiedMatching MONDO:0002896 primary syphilis skos:exactMatch DOID:4156 primary syphilis semapv:UnspecifiedMatching MONDO:0002896 primary syphilis skos:exactMatch MEDGEN:419772 semapv:UnspecifiedMatching MONDO:0002896 primary syphilis skos:exactMatch NCIT:C128412 Primary Syphilis semapv:UnspecifiedMatching MONDO:0002896 primary syphilis skos:exactMatch SCTID:186846005 semapv:UnspecifiedMatching MONDO:0002896 primary syphilis skos:exactMatch UMLS:C2931317 semapv:UnspecifiedMatching MONDO:0002896 primary syphilis skos:exactMatch mesh:C536772 semapv:UnspecifiedMatching MONDO:0002897 secondary syphilis skos:exactMatch DOID:4157 secondary syphilis semapv:UnspecifiedMatching MONDO:0002897 secondary syphilis skos:exactMatch MEDGEN:101776 semapv:UnspecifiedMatching MONDO:0002897 secondary syphilis skos:exactMatch NCIT:C128413 Secondary Syphilis semapv:UnspecifiedMatching MONDO:0002897 secondary syphilis skos:exactMatch SCTID:240557004 semapv:UnspecifiedMatching MONDO:0002897 secondary syphilis skos:exactMatch UMLS:C0149985 semapv:UnspecifiedMatching MONDO:0002897 secondary syphilis skos:exactMatch mesh:C536773 semapv:UnspecifiedMatching MONDO:0002898 skin cancer skos:exactMatch DOID:4159 skin cancer semapv:UnspecifiedMatching MONDO:0002898 skin cancer skos:exactMatch ICD10CM:C43-C44 Melanoma and other malignant neoplasms of skin (C43-C44) semapv:UnspecifiedMatching MONDO:0002898 skin cancer skos:exactMatch MEDGEN:40101 semapv:UnspecifiedMatching MONDO:0002898 skin cancer skos:exactMatch NCIT:C2920 Malignant Skin Neoplasm semapv:UnspecifiedMatching MONDO:0002898 skin cancer skos:exactMatch SCTID:372130007 semapv:UnspecifiedMatching MONDO:0002898 skin cancer skos:exactMatch UMLS:C0007114 semapv:UnspecifiedMatching MONDO:0002898 skin cancer skos:exactMatch icd11.foundation:1706880799 Malignant neoplasms of skin semapv:UnspecifiedMatching MONDO:0002899 differentiating neuroblastoma skos:exactMatch DOID:4160 differentiating neuroblastoma semapv:UnspecifiedMatching MONDO:0002899 differentiating neuroblastoma skos:exactMatch MEDGEN:268734 semapv:UnspecifiedMatching MONDO:0002899 differentiating neuroblastoma skos:exactMatch NCIT:C42048 Differentiating Neuroblastoma semapv:UnspecifiedMatching MONDO:0002899 differentiating neuroblastoma skos:exactMatch UMLS:C1511934 semapv:UnspecifiedMatching MONDO:0002900 cerebral neuroblastoma skos:exactMatch DOID:0080905 central nervous system neuroblastoma semapv:UnspecifiedMatching MONDO:0002900 cerebral neuroblastoma skos:exactMatch DOID:4164 cerebral neuroblastoma semapv:UnspecifiedMatching MONDO:0002900 cerebral neuroblastoma skos:exactMatch MEDGEN:107851 semapv:UnspecifiedMatching MONDO:0002900 cerebral neuroblastoma skos:exactMatch SCTID:281560004 semapv:UnspecifiedMatching MONDO:0002900 cerebral neuroblastoma skos:exactMatch UMLS:C0559458 semapv:UnspecifiedMatching MONDO:0002901 blood group incompatibility skos:exactMatch DOID:4176 blood group incompatibility semapv:UnspecifiedMatching MONDO:0002901 blood group incompatibility skos:exactMatch MEDGEN:609 semapv:UnspecifiedMatching MONDO:0002901 blood group incompatibility skos:exactMatch UMLS:C0005806 semapv:UnspecifiedMatching MONDO:0002903 articulation disorder skos:exactMatch DOID:4186 articulation disorder semapv:UnspecifiedMatching MONDO:0002903 articulation disorder skos:exactMatch MEDGEN:2081 semapv:UnspecifiedMatching MONDO:0002903 articulation disorder skos:exactMatch NCIT:C92564 Phonological Disorder semapv:UnspecifiedMatching MONDO:0002903 articulation disorder skos:exactMatch SCTID:386701004 semapv:UnspecifiedMatching MONDO:0002903 articulation disorder skos:exactMatch UMLS:C0003910 semapv:UnspecifiedMatching MONDO:0002903 articulation disorder skos:exactMatch mesh:D001184 semapv:UnspecifiedMatching MONDO:0002904 echolalia skos:exactMatch DOID:4188 echolalia semapv:UnspecifiedMatching MONDO:0002904 echolalia skos:exactMatch MEDGEN:8532 semapv:UnspecifiedMatching MONDO:0002904 echolalia skos:exactMatch UMLS:C0013528 semapv:UnspecifiedMatching MONDO:0002904 echolalia skos:exactMatch icd11.foundation:928818606 Echolalia semapv:UnspecifiedMatching MONDO:0002904 echolalia skos:exactMatch mesh:D004454 semapv:UnspecifiedMatching MONDO:0002905 mutism skos:exactMatch DOID:4189 mutism semapv:UnspecifiedMatching MONDO:0002905 mutism skos:exactMatch MEDGEN:6476 semapv:UnspecifiedMatching MONDO:0002905 mutism skos:exactMatch UMLS:C0026884 semapv:UnspecifiedMatching MONDO:0002905 mutism skos:exactMatch icd11.foundation:1275861519 Mutism semapv:UnspecifiedMatching MONDO:0002905 mutism skos:exactMatch mesh:D009155 semapv:UnspecifiedMatching MONDO:0002907 intracranial thrombosis skos:exactMatch DOID:4193 intracranial thrombosis semapv:UnspecifiedMatching MONDO:0002907 intracranial thrombosis skos:exactMatch MEDGEN:199820 semapv:UnspecifiedMatching MONDO:0002907 intracranial thrombosis skos:exactMatch SCTID:71444005 semapv:UnspecifiedMatching MONDO:0002907 intracranial thrombosis skos:exactMatch UMLS:C0752143 semapv:UnspecifiedMatching MONDO:0002907 intracranial thrombosis skos:exactMatch mesh:D020767 semapv:UnspecifiedMatching MONDO:0002908 glucose metabolism disease skos:exactMatch DOID:4194 glucose metabolism disease semapv:UnspecifiedMatching MONDO:0002908 glucose metabolism disease skos:exactMatch EFO:0009406 semapv:UnspecifiedMatching MONDO:0002908 glucose metabolism disease skos:exactMatch MEDGEN:226229 semapv:UnspecifiedMatching MONDO:0002908 glucose metabolism disease skos:exactMatch NCIT:C53655 Glucose Metabolism Disorder semapv:UnspecifiedMatching MONDO:0002908 glucose metabolism disease skos:exactMatch SCTID:126877002 semapv:UnspecifiedMatching MONDO:0002908 glucose metabolism disease skos:exactMatch UMLS:C1257958 semapv:UnspecifiedMatching MONDO:0002908 glucose metabolism disease skos:exactMatch mesh:D044882 semapv:UnspecifiedMatching MONDO:0002909 hyperglycemia skos:exactMatch DOID:4195 hyperglycemia semapv:UnspecifiedMatching MONDO:0002909 hyperglycemia skos:exactMatch MEDGEN:5689 semapv:UnspecifiedMatching MONDO:0002909 hyperglycemia skos:exactMatch SCTID:80394007 semapv:UnspecifiedMatching MONDO:0002909 hyperglycemia skos:exactMatch UMLS:C0020456 semapv:UnspecifiedMatching MONDO:0002909 hyperglycemia skos:exactMatch mesh:D006943 semapv:UnspecifiedMatching MONDO:0002910 peroneal neuropathy skos:exactMatch DOID:4201 peroneal neuropathy semapv:UnspecifiedMatching MONDO:0002910 peroneal neuropathy skos:exactMatch MEDGEN:148182 semapv:UnspecifiedMatching MONDO:0002910 peroneal neuropathy skos:exactMatch NCIT:C27596 Peroneal Neuropathy semapv:UnspecifiedMatching MONDO:0002910 peroneal neuropathy skos:exactMatch UMLS:C0747533 semapv:UnspecifiedMatching MONDO:0002910 peroneal neuropathy skos:exactMatch mesh:D020427 semapv:UnspecifiedMatching MONDO:0002911 brain stem glioma skos:exactMatch DOID:4202 brain stem glioma semapv:UnspecifiedMatching MONDO:0002911 brain stem glioma skos:exactMatch EFO:1000142 semapv:UnspecifiedMatching MONDO:0002911 brain stem glioma skos:exactMatch MEDGEN:195650 semapv:UnspecifiedMatching MONDO:0002911 brain stem glioma skos:exactMatch NCIT:C8501 Brain Stem Glioma semapv:UnspecifiedMatching MONDO:0002911 brain stem glioma skos:exactMatch SCTID:444545003 semapv:UnspecifiedMatching MONDO:0002911 brain stem glioma skos:exactMatch UMLS:C0677865 semapv:UnspecifiedMatching MONDO:0002912 brainstem cancer skos:exactMatch DOID:4203 brain stem cancer semapv:UnspecifiedMatching MONDO:0002912 brainstem cancer skos:exactMatch ICD10CM:C71.7 Malignant neoplasm of brain stem semapv:UnspecifiedMatching MONDO:0002912 brainstem cancer skos:exactMatch MEDGEN:57566 semapv:UnspecifiedMatching MONDO:0002912 brainstem cancer skos:exactMatch NCIT:C3570 Malignant Brain Stem Neoplasm semapv:UnspecifiedMatching MONDO:0002912 brainstem cancer skos:exactMatch SCTID:363473003 semapv:UnspecifiedMatching MONDO:0002912 brainstem cancer skos:exactMatch UMLS:C0153641 semapv:UnspecifiedMatching MONDO:0002912 brainstem cancer skos:exactMatch icd11.foundation:1866135359 Malignant neoplasm of brain stem semapv:UnspecifiedMatching MONDO:0002912 brainstem cancer skos:exactMatch mesh:D020295 semapv:UnspecifiedMatching MONDO:0002913 cerebellar neoplasm skos:exactMatch DOID:4205 cerebellum cancer semapv:UnspecifiedMatching MONDO:0002913 cerebellar neoplasm skos:exactMatch MEDGEN:40187 semapv:UnspecifiedMatching MONDO:0002913 cerebellar neoplasm skos:exactMatch NCIT:C2935 Cerebellar Neoplasm semapv:UnspecifiedMatching MONDO:0002913 cerebellar neoplasm skos:exactMatch SCTID:126960003 semapv:UnspecifiedMatching MONDO:0002913 cerebellar neoplasm skos:exactMatch UMLS:C0007762 semapv:UnspecifiedMatching MONDO:0002913 cerebellar neoplasm skos:exactMatch mesh:D002528 semapv:UnspecifiedMatching MONDO:0002914 childhood brain stem neoplasm skos:exactMatch DOID:4206 childhood brain stem neoplasm semapv:UnspecifiedMatching MONDO:0002914 childhood brain stem neoplasm skos:exactMatch MEDGEN:272459 semapv:UnspecifiedMatching MONDO:0002914 childhood brain stem neoplasm skos:exactMatch NCIT:C5969 Childhood Brain Stem Neoplasm semapv:UnspecifiedMatching MONDO:0002914 childhood brain stem neoplasm skos:exactMatch UMLS:C1332951 semapv:UnspecifiedMatching MONDO:0002915 childhood infratentorial neoplasm skos:exactMatch DOID:4207 childhood infratentorial neoplasm semapv:UnspecifiedMatching MONDO:0002915 childhood infratentorial neoplasm skos:exactMatch MEDGEN:232349 semapv:UnspecifiedMatching MONDO:0002915 childhood infratentorial neoplasm skos:exactMatch NCIT:C5802 Childhood Infratentorial Neoplasm semapv:UnspecifiedMatching MONDO:0002915 childhood infratentorial neoplasm skos:exactMatch UMLS:C1332973 semapv:UnspecifiedMatching MONDO:0002916 brainstem intraparenchymal clear cell meningioma skos:exactMatch DOID:4209 brainstem intraparenchymal clear cell meningioma semapv:UnspecifiedMatching MONDO:0002916 brainstem intraparenchymal clear cell meningioma skos:exactMatch MEDGEN:231959 semapv:UnspecifiedMatching MONDO:0002916 brainstem intraparenchymal clear cell meningioma skos:exactMatch NCIT:C5295 Brain Stem Intraparenchymal Clear Cell Meningioma semapv:UnspecifiedMatching MONDO:0002916 brainstem intraparenchymal clear cell meningioma skos:exactMatch UMLS:C1332612 semapv:UnspecifiedMatching MONDO:0002917 disorder of pilosebaceous unit skos:exactMatch DOID:421 hair disease semapv:UnspecifiedMatching MONDO:0002917 disorder of pilosebaceous unit skos:exactMatch MEDGEN:640417 semapv:UnspecifiedMatching MONDO:0002917 disorder of pilosebaceous unit skos:exactMatch NCIT:C34656 Hair Disorder semapv:UnspecifiedMatching MONDO:0002917 disorder of pilosebaceous unit skos:exactMatch SCTID:201128002 semapv:UnspecifiedMatching MONDO:0002917 disorder of pilosebaceous unit skos:exactMatch UMLS:C0554472 semapv:UnspecifiedMatching MONDO:0002917 disorder of pilosebaceous unit skos:exactMatch mesh:D006201 semapv:UnspecifiedMatching MONDO:0002918 clear cell meningioma skos:exactMatch DOID:4210 clear cell meningioma semapv:UnspecifiedMatching MONDO:0002918 clear cell meningioma skos:exactMatch MEDGEN:98459 semapv:UnspecifiedMatching MONDO:0002918 clear cell meningioma skos:exactMatch NCIT:C4722 Clear Cell Meningioma semapv:UnspecifiedMatching MONDO:0002918 clear cell meningioma skos:exactMatch UMLS:C0431121 semapv:UnspecifiedMatching MONDO:0002919 posterior cranial fossa meningioma skos:exactMatch DOID:4211 posterior fossa meningioma semapv:UnspecifiedMatching MONDO:0002919 posterior cranial fossa meningioma skos:exactMatch MEDGEN:290609 semapv:UnspecifiedMatching MONDO:0002919 posterior cranial fossa meningioma skos:exactMatch NCIT:C6775 Posterior Fossa Meningioma semapv:UnspecifiedMatching MONDO:0002919 posterior cranial fossa meningioma skos:exactMatch UMLS:C1565950 semapv:UnspecifiedMatching MONDO:0002920 malignant ovarian Brenner tumor skos:exactMatch DOID:4217 malignant ovarian Brenner tumor semapv:UnspecifiedMatching MONDO:0002920 malignant ovarian Brenner tumor skos:exactMatch MEDGEN:90793 semapv:UnspecifiedMatching MONDO:0002920 malignant ovarian Brenner tumor skos:exactMatch NCIT:C4270 Malignant Ovarian Brenner Tumor semapv:UnspecifiedMatching MONDO:0002920 malignant ovarian Brenner tumor skos:exactMatch UMLS:C0334495 semapv:UnspecifiedMatching MONDO:0002921 congenital structural myopathy skos:exactMatch DOID:422 congenital structural myopathy semapv:UnspecifiedMatching MONDO:0002921 congenital structural myopathy skos:exactMatch MEDGEN:156050 semapv:UnspecifiedMatching MONDO:0002921 congenital structural myopathy skos:exactMatch NCIT:C84648 Congenital Structural Myopathy semapv:UnspecifiedMatching MONDO:0002921 congenital structural myopathy skos:exactMatch UMLS:C0752282 semapv:UnspecifiedMatching MONDO:0002921 congenital structural myopathy skos:exactMatch mesh:D020914 semapv:UnspecifiedMatching MONDO:0002922 pyoderma skos:exactMatch DOID:4223 pyoderma semapv:UnspecifiedMatching MONDO:0002922 pyoderma skos:exactMatch ICD10CM:L08.0 Pyoderma semapv:UnspecifiedMatching MONDO:0002922 pyoderma skos:exactMatch MEDGEN:18783 semapv:UnspecifiedMatching MONDO:0002922 pyoderma skos:exactMatch SCTID:70759006 semapv:UnspecifiedMatching MONDO:0002922 pyoderma skos:exactMatch UMLS:C0034212 semapv:UnspecifiedMatching MONDO:0002922 pyoderma skos:exactMatch icd11.foundation:1991248382 Pyoderma semapv:UnspecifiedMatching MONDO:0002922 pyoderma skos:exactMatch mesh:D011711 semapv:UnspecifiedMatching MONDO:0002923 uterine corpus endometrial stromal sarcoma skos:exactMatch DOID:4227 uterine corpus endometrial stromal sarcoma semapv:UnspecifiedMatching MONDO:0002923 uterine corpus endometrial stromal sarcoma skos:exactMatch MEDGEN:275553 semapv:UnspecifiedMatching MONDO:0002923 uterine corpus endometrial stromal sarcoma skos:exactMatch NCIT:C40219 Uterine Corpus Endometrial Stromal Sarcoma semapv:UnspecifiedMatching MONDO:0002923 uterine corpus endometrial stromal sarcoma skos:exactMatch UMLS:C1519849 semapv:UnspecifiedMatching MONDO:0002924 smooth muscle cancer skos:exactMatch DOID:4230 smooth muscle cancer semapv:UnspecifiedMatching MONDO:0002926 clear cell sarcoma skos:exactMatch DOID:4233 clear cell sarcoma semapv:UnspecifiedMatching MONDO:0002926 clear cell sarcoma skos:exactMatch EFO:0008498 semapv:UnspecifiedMatching MONDO:0002926 clear cell sarcoma skos:exactMatch MEDGEN:104909 semapv:UnspecifiedMatching MONDO:0002926 clear cell sarcoma skos:exactMatch NCIT:C3745 Clear Cell Sarcoma of Soft Tissue semapv:UnspecifiedMatching MONDO:0002926 clear cell sarcoma skos:exactMatch SCTID:402561003 semapv:UnspecifiedMatching MONDO:0002926 clear cell sarcoma skos:exactMatch UMLS:C0206651 semapv:UnspecifiedMatching MONDO:0002926 clear cell sarcoma skos:exactMatch mesh:D018227 semapv:UnspecifiedMatching MONDO:0002927 spindle cell sarcoma skos:exactMatch DOID:4235 spindle cell sarcoma semapv:UnspecifiedMatching MONDO:0002927 spindle cell sarcoma skos:exactMatch MEDGEN:64477 semapv:UnspecifiedMatching MONDO:0002927 spindle cell sarcoma skos:exactMatch NCIT:C27005 Spindle Cell Sarcoma semapv:UnspecifiedMatching MONDO:0002927 spindle cell sarcoma skos:exactMatch UMLS:C0205945 semapv:UnspecifiedMatching MONDO:0002928 carcinosarcoma skos:exactMatch DOID:4236 carcinosarcoma semapv:UnspecifiedMatching MONDO:0002928 carcinosarcoma skos:exactMatch MEDGEN:2876 semapv:UnspecifiedMatching MONDO:0002928 carcinosarcoma skos:exactMatch NCIT:C34448 Carcinosarcoma semapv:UnspecifiedMatching MONDO:0002928 carcinosarcoma skos:exactMatch UMLS:C0007140 semapv:UnspecifiedMatching MONDO:0002928 carcinosarcoma skos:exactMatch mesh:D002296 semapv:UnspecifiedMatching MONDO:0002929 pulmonary immaturity skos:exactMatch DOID:424 pulmonary immaturity semapv:UnspecifiedMatching MONDO:0002929 pulmonary immaturity skos:exactMatch ICD10CM:P28.0 Primary atelectasis of newborn semapv:UnspecifiedMatching MONDO:0002929 pulmonary immaturity skos:exactMatch MEDGEN:542574 semapv:UnspecifiedMatching MONDO:0002929 pulmonary immaturity skos:exactMatch SCTID:42908004 semapv:UnspecifiedMatching MONDO:0002929 pulmonary immaturity skos:exactMatch UMLS:C0270163 semapv:UnspecifiedMatching MONDO:0002930 kidney sarcoma skos:exactMatch DOID:4242 kidney sarcoma semapv:UnspecifiedMatching MONDO:0002930 kidney sarcoma skos:exactMatch MEDGEN:87548 semapv:UnspecifiedMatching MONDO:0002930 kidney sarcoma skos:exactMatch NCIT:C4525 Kidney Sarcoma semapv:UnspecifiedMatching MONDO:0002930 kidney sarcoma skos:exactMatch SCTID:254918001 semapv:UnspecifiedMatching MONDO:0002930 kidney sarcoma skos:exactMatch UMLS:C0346251 semapv:UnspecifiedMatching MONDO:0002931 conjunctivochalasis skos:exactMatch DOID:4250 conjunctivochalasis semapv:UnspecifiedMatching MONDO:0002931 conjunctivochalasis skos:exactMatch ICD10CM:H11.82 Conjunctivochalasis semapv:UnspecifiedMatching MONDO:0002931 conjunctivochalasis skos:exactMatch MEDGEN:678824 semapv:UnspecifiedMatching MONDO:0002931 conjunctivochalasis skos:exactMatch SCTID:408663001 semapv:UnspecifiedMatching MONDO:0002931 conjunctivochalasis skos:exactMatch UMLS:C0878693 semapv:UnspecifiedMatching MONDO:0002931 conjunctivochalasis skos:exactMatch icd11.foundation:870876723 Conjunctivochalasis semapv:UnspecifiedMatching MONDO:0002933 osteosclerosis skos:exactMatch DOID:4254 osteosclerosis semapv:UnspecifiedMatching MONDO:0002933 osteosclerosis skos:exactMatch MEDGEN:10502 semapv:UnspecifiedMatching MONDO:0002933 osteosclerosis skos:exactMatch NCIT:C41236 Osteosclerosis semapv:UnspecifiedMatching MONDO:0002933 osteosclerosis skos:exactMatch SCTID:49347007 semapv:UnspecifiedMatching MONDO:0002933 osteosclerosis skos:exactMatch UMLS:C0029464 semapv:UnspecifiedMatching MONDO:0002933 osteosclerosis skos:exactMatch icd11.foundation:2061303143 Osteosclerosis semapv:UnspecifiedMatching MONDO:0002933 osteosclerosis skos:exactMatch mesh:D010026 semapv:UnspecifiedMatching MONDO:0002934 intravascular angioleiomyoma skos:exactMatch DOID:4266 intravascular angioleiomyoma semapv:UnspecifiedMatching MONDO:0002934 intravascular angioleiomyoma skos:exactMatch MEDGEN:233577 semapv:UnspecifiedMatching MONDO:0002934 intravascular angioleiomyoma skos:exactMatch NCIT:C5355 Intravascular Angioleiomyoma semapv:UnspecifiedMatching MONDO:0002934 intravascular angioleiomyoma skos:exactMatch UMLS:C1334267 semapv:UnspecifiedMatching MONDO:0002935 penis basal cell carcinoma skos:exactMatch DOID:4277 penis basal cell carcinoma semapv:UnspecifiedMatching MONDO:0002935 penis basal cell carcinoma skos:exactMatch MEDGEN:275349 semapv:UnspecifiedMatching MONDO:0002935 penis basal cell carcinoma skos:exactMatch NCIT:C39961 Penile Basal Cell Carcinoma semapv:UnspecifiedMatching MONDO:0002935 penis basal cell carcinoma skos:exactMatch UMLS:C1518949 semapv:UnspecifiedMatching MONDO:0002936 scrotum basal cell carcinoma skos:exactMatch DOID:4278 scrotum basal cell carcinoma semapv:UnspecifiedMatching MONDO:0002936 scrotum basal cell carcinoma skos:exactMatch MEDGEN:233437 semapv:UnspecifiedMatching MONDO:0002936 scrotum basal cell carcinoma skos:exactMatch NCIT:C6386 Scrotal Basal Cell Carcinoma semapv:UnspecifiedMatching MONDO:0002936 scrotum basal cell carcinoma skos:exactMatch UMLS:C1335934 semapv:UnspecifiedMatching MONDO:0002937 nodular basal cell carcinoma skos:exactMatch DOID:4280 nodular basal cell carcinoma semapv:UnspecifiedMatching MONDO:0002937 nodular basal cell carcinoma skos:exactMatch MEDGEN:908229 semapv:UnspecifiedMatching MONDO:0002937 nodular basal cell carcinoma skos:exactMatch NCIT:C5568 Skin Nodulo-Ulcerative Basal Cell Carcinoma semapv:UnspecifiedMatching MONDO:0002937 nodular basal cell carcinoma skos:exactMatch SCTID:403910009 semapv:UnspecifiedMatching MONDO:0002937 nodular basal cell carcinoma skos:exactMatch UMLS:C4083056 semapv:UnspecifiedMatching MONDO:0002938 metatypical basal cell carcinoma skos:exactMatch DOID:4281 metatypical basal cell carcinoma semapv:UnspecifiedMatching MONDO:0002938 metatypical basal cell carcinoma skos:exactMatch SCTID:254702000 semapv:UnspecifiedMatching MONDO:0002939 skin pigmented basal cell carcinoma skos:exactMatch DOID:4282 pigmented basal cell carcinoma semapv:UnspecifiedMatching MONDO:0002939 skin pigmented basal cell carcinoma skos:exactMatch MEDGEN:237149 semapv:UnspecifiedMatching MONDO:0002939 skin pigmented basal cell carcinoma skos:exactMatch NCIT:C9359 Skin Pigmented Basal Cell Carcinoma semapv:UnspecifiedMatching MONDO:0002939 skin pigmented basal cell carcinoma skos:exactMatch SCTID:403909004 semapv:UnspecifiedMatching MONDO:0002939 skin pigmented basal cell carcinoma skos:exactMatch UMLS:C1368275 semapv:UnspecifiedMatching MONDO:0002940 anal margin basal cell carcinoma skos:exactMatch DOID:4283 anal margin basal cell carcinoma semapv:UnspecifiedMatching MONDO:0002940 anal margin basal cell carcinoma skos:exactMatch ICD10CM:C44.510 Basal cell carcinoma of anal skin semapv:UnspecifiedMatching MONDO:0002940 anal margin basal cell carcinoma skos:exactMatch MEDGEN:231371 semapv:UnspecifiedMatching MONDO:0002940 anal margin basal cell carcinoma skos:exactMatch NCIT:C7473 Anal Margin Basal Cell Carcinoma semapv:UnspecifiedMatching MONDO:0002940 anal margin basal cell carcinoma skos:exactMatch UMLS:C1332269 semapv:UnspecifiedMatching MONDO:0002941 anal margin carcinoma skos:exactMatch DOID:4284 anal margin carcinoma semapv:UnspecifiedMatching MONDO:0002941 anal margin carcinoma skos:exactMatch MEDGEN:87604 semapv:UnspecifiedMatching MONDO:0002941 anal margin carcinoma skos:exactMatch NCIT:C7472 Anal Margin Carcinoma semapv:UnspecifiedMatching MONDO:0002941 anal margin carcinoma skos:exactMatch UMLS:C0349534 semapv:UnspecifiedMatching MONDO:0002942 sebaceous basal cell carcinoma skos:exactMatch DOID:4286 skin nasal cell carcinoma with sebaceous differentiation semapv:UnspecifiedMatching MONDO:0002942 sebaceous basal cell carcinoma skos:exactMatch MEDGEN:83180 semapv:UnspecifiedMatching MONDO:0002942 sebaceous basal cell carcinoma skos:exactMatch NCIT:C4346 Skin Basal Cell Carcinoma with Sebaceous Differentiation semapv:UnspecifiedMatching MONDO:0002942 sebaceous basal cell carcinoma skos:exactMatch UMLS:C0334683 semapv:UnspecifiedMatching MONDO:0002943 external ear basal cell carcinoma skos:exactMatch DOID:4287 external ear basal cell carcinoma semapv:UnspecifiedMatching MONDO:0002943 external ear basal cell carcinoma skos:exactMatch MEDGEN:234239 semapv:UnspecifiedMatching MONDO:0002943 external ear basal cell carcinoma skos:exactMatch NCIT:C6082 External Ear Basal Cell Carcinoma semapv:UnspecifiedMatching MONDO:0002943 external ear basal cell carcinoma skos:exactMatch UMLS:C1333491 semapv:UnspecifiedMatching MONDO:0002944 external ear carcinoma skos:exactMatch DOID:4288 external ear carcinoma semapv:UnspecifiedMatching MONDO:0002944 external ear carcinoma skos:exactMatch MEDGEN:272600 semapv:UnspecifiedMatching MONDO:0002944 external ear carcinoma skos:exactMatch NCIT:C6081 External Ear Carcinoma semapv:UnspecifiedMatching MONDO:0002944 external ear carcinoma skos:exactMatch UMLS:C1333492 semapv:UnspecifiedMatching MONDO:0002945 micronodular basal cell carcinoma skos:exactMatch DOID:4289 micronodular basal cell carcinoma semapv:UnspecifiedMatching MONDO:0002945 micronodular basal cell carcinoma skos:exactMatch MEDGEN:234567 semapv:UnspecifiedMatching MONDO:0002945 micronodular basal cell carcinoma skos:exactMatch NCIT:C27541 Skin Micronodular Basal Cell Carcinoma semapv:UnspecifiedMatching MONDO:0002945 micronodular basal cell carcinoma skos:exactMatch SCTID:402529002 semapv:UnspecifiedMatching MONDO:0002945 micronodular basal cell carcinoma skos:exactMatch UMLS:C1367861 semapv:UnspecifiedMatching MONDO:0002946 gynatresia skos:exactMatch DOID:429 gynatresia semapv:UnspecifiedMatching MONDO:0002946 gynatresia skos:exactMatch MEDGEN:42316 semapv:UnspecifiedMatching MONDO:0002946 gynatresia skos:exactMatch NCIT:C84743 Gynatresia semapv:UnspecifiedMatching MONDO:0002946 gynatresia skos:exactMatch UMLS:C0018414 semapv:UnspecifiedMatching MONDO:0002946 gynatresia skos:exactMatch mesh:D006175 semapv:UnspecifiedMatching MONDO:0002947 adamantinoid basal cell epithelioma skos:exactMatch DOID:4290 adamantinoid basal cell epithelioma semapv:UnspecifiedMatching MONDO:0002947 adamantinoid basal cell epithelioma skos:exactMatch MEDGEN:227004 semapv:UnspecifiedMatching MONDO:0002947 adamantinoid basal cell epithelioma skos:exactMatch NCIT:C7585 Skin Adamantinoid Basal Cell Carcinoma semapv:UnspecifiedMatching MONDO:0002947 adamantinoid basal cell epithelioma skos:exactMatch SCTID:402524007 semapv:UnspecifiedMatching MONDO:0002947 adamantinoid basal cell epithelioma skos:exactMatch UMLS:C1304295 semapv:UnspecifiedMatching MONDO:0002948 skin fibroepithelial basal cell carcinoma skos:exactMatch DOID:4291 fibroepithelial basal cell carcinoma semapv:UnspecifiedMatching MONDO:0002948 skin fibroepithelial basal cell carcinoma skos:exactMatch MEDGEN:87529 semapv:UnspecifiedMatching MONDO:0002948 skin fibroepithelial basal cell carcinoma skos:exactMatch NCIT:C4109 Skin Fibroepithelial Basal Cell Carcinoma semapv:UnspecifiedMatching MONDO:0002948 skin fibroepithelial basal cell carcinoma skos:exactMatch SCTID:254703005 semapv:UnspecifiedMatching MONDO:0002948 skin fibroepithelial basal cell carcinoma skos:exactMatch UMLS:C0346013 semapv:UnspecifiedMatching MONDO:0002949 morpheaform basal cell carcinoma skos:exactMatch DOID:4292 morpheaform basal cell carcinoma semapv:UnspecifiedMatching MONDO:0002949 morpheaform basal cell carcinoma skos:exactMatch MEDGEN:107825 semapv:UnspecifiedMatching MONDO:0002949 morpheaform basal cell carcinoma skos:exactMatch NCIT:C27182 Skin Sclerosing/Morphoeic Basal Cell Carcinoma semapv:UnspecifiedMatching MONDO:0002949 morpheaform basal cell carcinoma skos:exactMatch SCTID:403913006 semapv:UnspecifiedMatching MONDO:0002949 morpheaform basal cell carcinoma skos:exactMatch UMLS:C0555191 semapv:UnspecifiedMatching MONDO:0002950 skin clear cell basal cell carcinoma skos:exactMatch DOID:4293 clear cell basal cell carcinoma semapv:UnspecifiedMatching MONDO:0002950 skin clear cell basal cell carcinoma skos:exactMatch MEDGEN:275752 semapv:UnspecifiedMatching MONDO:0002950 skin clear cell basal cell carcinoma skos:exactMatch NCIT:C27536 Skin Clear Cell Basal Cell Carcinoma semapv:UnspecifiedMatching MONDO:0002950 skin clear cell basal cell carcinoma skos:exactMatch UMLS:C1516599 semapv:UnspecifiedMatching MONDO:0002951 skin adenoid basal cell carcinoma skos:exactMatch DOID:4294 adenoid basal cell carcinoma semapv:UnspecifiedMatching MONDO:0002951 skin adenoid basal cell carcinoma skos:exactMatch MEDGEN:266272 semapv:UnspecifiedMatching MONDO:0002951 skin adenoid basal cell carcinoma skos:exactMatch NCIT:C27535 Skin Adenoid Basal Cell Carcinoma semapv:UnspecifiedMatching MONDO:0002951 skin adenoid basal cell carcinoma skos:exactMatch SCTID:402525008 semapv:UnspecifiedMatching MONDO:0002951 skin adenoid basal cell carcinoma skos:exactMatch UMLS:C1304296 semapv:UnspecifiedMatching MONDO:0002952 follicular basal cell carcinoma skos:exactMatch DOID:4295 follicular basal cell carcinoma semapv:UnspecifiedMatching MONDO:0002952 follicular basal cell carcinoma skos:exactMatch MEDGEN:363001 semapv:UnspecifiedMatching MONDO:0002952 follicular basal cell carcinoma skos:exactMatch NCIT:C27538 Skin Follicular Basal Cell Carcinoma semapv:UnspecifiedMatching MONDO:0002952 follicular basal cell carcinoma skos:exactMatch SCTID:402526009 semapv:UnspecifiedMatching MONDO:0002952 follicular basal cell carcinoma skos:exactMatch UMLS:C1883723 semapv:UnspecifiedMatching MONDO:0002953 skin infiltrative basal cell carcinoma skos:exactMatch DOID:4299 infiltrative basal cell carcinoma semapv:UnspecifiedMatching MONDO:0002953 skin infiltrative basal cell carcinoma skos:exactMatch MEDGEN:87201 semapv:UnspecifiedMatching MONDO:0002953 skin infiltrative basal cell carcinoma skos:exactMatch NCIT:C27539 Skin Infiltrating Basal Cell Carcinoma semapv:UnspecifiedMatching MONDO:0002953 skin infiltrative basal cell carcinoma skos:exactMatch UMLS:C0334257 semapv:UnspecifiedMatching MONDO:0002954 superficial multifocal basal cell carcinoma skos:exactMatch DOID:4300 superficial basal cell carcinoma semapv:UnspecifiedMatching MONDO:0002954 superficial multifocal basal cell carcinoma skos:exactMatch MEDGEN:87200 semapv:UnspecifiedMatching MONDO:0002954 superficial multifocal basal cell carcinoma skos:exactMatch NCIT:C4108 Superficial Multifocal Basal Cell Carcinoma semapv:UnspecifiedMatching MONDO:0002954 superficial multifocal basal cell carcinoma skos:exactMatch SCTID:403914000 semapv:UnspecifiedMatching MONDO:0002954 superficial multifocal basal cell carcinoma skos:exactMatch UMLS:C0334256 semapv:UnspecifiedMatching MONDO:0002955 vulva basal cell carcinoma skos:exactMatch DOID:4301 vulva basal cell carcinoma semapv:UnspecifiedMatching MONDO:0002955 vulva basal cell carcinoma skos:exactMatch MEDGEN:234481 semapv:UnspecifiedMatching MONDO:0002955 vulva basal cell carcinoma skos:exactMatch NCIT:C6381 Vulvar Basal Cell Carcinoma semapv:UnspecifiedMatching MONDO:0002955 vulva basal cell carcinoma skos:exactMatch Orphanet:494451 Vulvar basal cell carcinoma semapv:UnspecifiedMatching MONDO:0002955 vulva basal cell carcinoma skos:exactMatch SCTID:717731002 semapv:UnspecifiedMatching MONDO:0002955 vulva basal cell carcinoma skos:exactMatch UMLS:C1336977 semapv:UnspecifiedMatching MONDO:0002955 vulva basal cell carcinoma skos:exactMatch icd11.foundation:247568702 Basal cell carcinoma of vulva semapv:UnspecifiedMatching MONDO:0002956 skin cystic basal cell carcinoma skos:exactMatch DOID:4302 cystic basal cell carcinoma semapv:UnspecifiedMatching MONDO:0002956 skin cystic basal cell carcinoma skos:exactMatch MEDGEN:224810 semapv:UnspecifiedMatching MONDO:0002956 skin cystic basal cell carcinoma skos:exactMatch NCIT:C27537 Skin Cystic Basal Cell Carcinoma semapv:UnspecifiedMatching MONDO:0002956 skin cystic basal cell carcinoma skos:exactMatch SCTID:403912001 semapv:UnspecifiedMatching MONDO:0002956 skin cystic basal cell carcinoma skos:exactMatch UMLS:C1275193 semapv:UnspecifiedMatching MONDO:0002957 sarcomatoid basal cell carcinoma skos:exactMatch DOID:4303 sarcomatoid basal cell carcinoma semapv:UnspecifiedMatching MONDO:0002957 sarcomatoid basal cell carcinoma skos:exactMatch MEDGEN:275402 semapv:UnspecifiedMatching MONDO:0002957 sarcomatoid basal cell carcinoma skos:exactMatch NCIT:C38111 Skin Basal Cell Carcinoma with Sarcomatoid Differentiation semapv:UnspecifiedMatching MONDO:0002957 sarcomatoid basal cell carcinoma skos:exactMatch UMLS:C1519182 semapv:UnspecifiedMatching MONDO:0002958 signet ring basal cell carcinoma skos:exactMatch DOID:4304 signet ring basal cell carcinoma semapv:UnspecifiedMatching MONDO:0002958 signet ring basal cell carcinoma skos:exactMatch MEDGEN:276814 semapv:UnspecifiedMatching MONDO:0002958 signet ring basal cell carcinoma skos:exactMatch NCIT:C38110 Skin Signet Ring Cell Basal Cell Carcinoma semapv:UnspecifiedMatching MONDO:0002958 signet ring basal cell carcinoma skos:exactMatch UMLS:C1519320 semapv:UnspecifiedMatching MONDO:0002959 radiculopathy skos:exactMatch DOID:4306 radiculopathy semapv:UnspecifiedMatching MONDO:0002959 radiculopathy skos:exactMatch ICD10CM:M54.1 Radiculopathy semapv:UnspecifiedMatching MONDO:0002959 radiculopathy skos:exactMatch MEDGEN:147133 semapv:UnspecifiedMatching MONDO:0002959 radiculopathy skos:exactMatch SCTID:72274001 semapv:UnspecifiedMatching MONDO:0002959 radiculopathy skos:exactMatch UMLS:C0700594 semapv:UnspecifiedMatching MONDO:0002959 radiculopathy skos:exactMatch icd11.foundation:1802542189 Radiculopathy semapv:UnspecifiedMatching MONDO:0002959 radiculopathy skos:exactMatch mesh:D011843 semapv:UnspecifiedMatching MONDO:0002960 polyradiculopathy skos:exactMatch DOID:4307 polyradiculopathy semapv:UnspecifiedMatching MONDO:0002960 polyradiculopathy skos:exactMatch MEDGEN:46011 semapv:UnspecifiedMatching MONDO:0002960 polyradiculopathy skos:exactMatch NCIT:C34934 Polyradiculopathy semapv:UnspecifiedMatching MONDO:0002960 polyradiculopathy skos:exactMatch SCTID:75572007 semapv:UnspecifiedMatching MONDO:0002960 polyradiculopathy skos:exactMatch UMLS:C0032586 semapv:UnspecifiedMatching MONDO:0002960 polyradiculopathy skos:exactMatch mesh:D011128 semapv:UnspecifiedMatching MONDO:0002961 large cell acanthoma skos:exactMatch DOID:4321 large cell acanthoma semapv:UnspecifiedMatching MONDO:0002961 large cell acanthoma skos:exactMatch MEDGEN:235249 semapv:UnspecifiedMatching MONDO:0002961 large cell acanthoma skos:exactMatch NCIT:C27518 Large Cell Acanthoma semapv:UnspecifiedMatching MONDO:0002961 large cell acanthoma skos:exactMatch UMLS:C1334362 semapv:UnspecifiedMatching MONDO:0002962 epidermolytic acanthoma skos:exactMatch DOID:4323 epidermolytic acanthoma semapv:UnspecifiedMatching MONDO:0002962 epidermolytic acanthoma skos:exactMatch MEDGEN:272577 semapv:UnspecifiedMatching MONDO:0002962 epidermolytic acanthoma skos:exactMatch NCIT:C27516 Epidermolytic Acanthoma semapv:UnspecifiedMatching MONDO:0002962 epidermolytic acanthoma skos:exactMatch UMLS:C1333414 semapv:UnspecifiedMatching MONDO:0002963 acantholytic acanthoma skos:exactMatch DOID:4324 acantholytic acanthoma semapv:UnspecifiedMatching MONDO:0002963 acantholytic acanthoma skos:exactMatch MEDGEN:220970 semapv:UnspecifiedMatching MONDO:0002963 acantholytic acanthoma skos:exactMatch NCIT:C27517 Acantholytic Acanthoma semapv:UnspecifiedMatching MONDO:0002963 acantholytic acanthoma skos:exactMatch UMLS:C1301270 semapv:UnspecifiedMatching MONDO:0002965 parovarian cyst skos:exactMatch DOID:4333 parovarian cyst semapv:UnspecifiedMatching MONDO:0002965 parovarian cyst skos:exactMatch MEDGEN:14622 semapv:UnspecifiedMatching MONDO:0002965 parovarian cyst skos:exactMatch SCTID:64233004 semapv:UnspecifiedMatching MONDO:0002965 parovarian cyst skos:exactMatch UMLS:C0030584 semapv:UnspecifiedMatching MONDO:0002965 parovarian cyst skos:exactMatch mesh:D010310 semapv:UnspecifiedMatching MONDO:0002966 splenic manifestation of prolymphocytic leukemia skos:exactMatch DOID:4334 splenic manifestation of prolymphocytic leukemia semapv:UnspecifiedMatching MONDO:0002966 splenic manifestation of prolymphocytic leukemia skos:exactMatch MEDGEN:277663 semapv:UnspecifiedMatching MONDO:0002966 splenic manifestation of prolymphocytic leukemia skos:exactMatch NCIT:C7297 Splenic Manifestation of Prolymphocytic Leukemia semapv:UnspecifiedMatching MONDO:0002966 splenic manifestation of prolymphocytic leukemia skos:exactMatch UMLS:C1336066 semapv:UnspecifiedMatching MONDO:0002967 dermatophytosis of scalp or beard skos:exactMatch DOID:4337 tinea capitis semapv:UnspecifiedMatching MONDO:0002967 dermatophytosis of scalp or beard skos:exactMatch ICD10CM:B35.0 Tinea barbae and tinea capitis semapv:UnspecifiedMatching MONDO:0002967 dermatophytosis of scalp or beard skos:exactMatch MEDGEN:4237 semapv:UnspecifiedMatching MONDO:0002967 dermatophytosis of scalp or beard skos:exactMatch NCIT:C34536 Dermatophytosis of Scalp and Beard semapv:UnspecifiedMatching MONDO:0002967 dermatophytosis of scalp or beard skos:exactMatch SCTID:266148000 semapv:UnspecifiedMatching MONDO:0002967 dermatophytosis of scalp or beard skos:exactMatch UMLS:C0011640 semapv:UnspecifiedMatching MONDO:0002968 lymphocele skos:exactMatch DOID:4347 lymphocele semapv:UnspecifiedMatching MONDO:0002968 lymphocele skos:exactMatch MEDGEN:7414 semapv:UnspecifiedMatching MONDO:0002968 lymphocele skos:exactMatch SCTID:234110002 semapv:UnspecifiedMatching MONDO:0002968 lymphocele skos:exactMatch UMLS:C0024248 semapv:UnspecifiedMatching MONDO:0002968 lymphocele skos:exactMatch icd11.foundation:1806199285 Lymphocele semapv:UnspecifiedMatching MONDO:0002968 lymphocele skos:exactMatch mesh:D008210 semapv:UnspecifiedMatching MONDO:0002969 ciliary body cancer skos:exactMatch DOID:4352 ciliary body cancer semapv:UnspecifiedMatching MONDO:0002969 ciliary body cancer skos:exactMatch ICD10CM:C69.4 Malignant neoplasm of ciliary body semapv:UnspecifiedMatching MONDO:0002969 ciliary body cancer skos:exactMatch MEDGEN:99219 semapv:UnspecifiedMatching MONDO:0002969 ciliary body cancer skos:exactMatch NCIT:C4766 Malignant Ciliary Body Neoplasm semapv:UnspecifiedMatching MONDO:0002969 ciliary body cancer skos:exactMatch SCTID:188263008 semapv:UnspecifiedMatching MONDO:0002969 ciliary body cancer skos:exactMatch UMLS:C0496833 semapv:UnspecifiedMatching MONDO:0002969 ciliary body cancer skos:exactMatch icd11.foundation:2121278989 Malignant neoplasm of ciliary body semapv:UnspecifiedMatching MONDO:0002970 ciliary body disorder skos:exactMatch DOID:4353 ciliary body disease semapv:UnspecifiedMatching MONDO:0002970 ciliary body disorder skos:exactMatch MEDGEN:124384 semapv:UnspecifiedMatching MONDO:0002970 ciliary body disorder skos:exactMatch NCIT:C35775 Ciliary Body Disorder semapv:UnspecifiedMatching MONDO:0002970 ciliary body disorder skos:exactMatch SCTID:68575007 semapv:UnspecifiedMatching MONDO:0002970 ciliary body disorder skos:exactMatch UMLS:C0271100 semapv:UnspecifiedMatching MONDO:0002971 amelanotic melanoma skos:exactMatch DOID:4359 amelanotic melanoma semapv:UnspecifiedMatching MONDO:0002971 amelanotic melanoma skos:exactMatch EFO:1001937 semapv:UnspecifiedMatching MONDO:0002971 amelanotic melanoma skos:exactMatch MEDGEN:64644 semapv:UnspecifiedMatching MONDO:0002971 amelanotic melanoma skos:exactMatch NCIT:C3802 Amelanotic Melanoma semapv:UnspecifiedMatching MONDO:0002971 amelanotic melanoma skos:exactMatch UMLS:C0206735 semapv:UnspecifiedMatching MONDO:0002971 amelanotic melanoma skos:exactMatch mesh:D018328 semapv:UnspecifiedMatching MONDO:0002972 posterior mediastinum cancer skos:exactMatch DOID:436 posterior mediastinum cancer semapv:UnspecifiedMatching MONDO:0002972 posterior mediastinum cancer skos:exactMatch ICD10CM:C38.2 Malignant neoplasm of posterior mediastinum semapv:UnspecifiedMatching MONDO:0002972 posterior mediastinum cancer skos:exactMatch MEDGEN:509314 semapv:UnspecifiedMatching MONDO:0002972 posterior mediastinum cancer skos:exactMatch SCTID:448670003 semapv:UnspecifiedMatching MONDO:0002972 posterior mediastinum cancer skos:exactMatch UMLS:C0153502 semapv:UnspecifiedMatching MONDO:0002973 epithelioid cell melanoma skos:exactMatch DOID:4360 epithelioid cell melanoma semapv:UnspecifiedMatching MONDO:0002973 epithelioid cell melanoma skos:exactMatch MEDGEN:137763 semapv:UnspecifiedMatching MONDO:0002973 epithelioid cell melanoma skos:exactMatch NCIT:C4236 Epithelioid Cell Melanoma semapv:UnspecifiedMatching MONDO:0002973 epithelioid cell melanoma skos:exactMatch UMLS:C0334443 semapv:UnspecifiedMatching MONDO:0002974 cervical cancer skos:exactMatch DOID:4362 cervical cancer semapv:UnspecifiedMatching MONDO:0002974 cervical cancer skos:exactMatch ICD10CM:C53 Malignant neoplasm of cervix uteri semapv:UnspecifiedMatching MONDO:0002974 cervical cancer skos:exactMatch MEDGEN:890252 semapv:UnspecifiedMatching MONDO:0002974 cervical cancer skos:exactMatch NCIT:C9311 Malignant Cervical Neoplasm semapv:UnspecifiedMatching MONDO:0002974 cervical cancer skos:exactMatch OMIM:603956 cervical cancer semapv:UnspecifiedMatching MONDO:0002974 cervical cancer skos:exactMatch SCTID:363354003 semapv:UnspecifiedMatching MONDO:0002974 cervical cancer skos:exactMatch UMLS:C4048328 semapv:UnspecifiedMatching MONDO:0002974 cervical cancer skos:exactMatch icd11.foundation:1256072522 Malignant neoplasms of cervix uteri semapv:UnspecifiedMatching MONDO:0002975 malignant breast melanoma skos:exactMatch DOID:4364 malignant breast melanoma semapv:UnspecifiedMatching MONDO:0002975 malignant breast melanoma skos:exactMatch MEDGEN:138069 semapv:UnspecifiedMatching MONDO:0002975 malignant breast melanoma skos:exactMatch NCIT:C8410 Breast Melanoma semapv:UnspecifiedMatching MONDO:0002975 malignant breast melanoma skos:exactMatch SCTID:188050009 semapv:UnspecifiedMatching MONDO:0002975 malignant breast melanoma skos:exactMatch UMLS:C0346787 semapv:UnspecifiedMatching MONDO:0002976 stomach diverticulosis skos:exactMatch DOID:4370 stomach diverticulosis semapv:UnspecifiedMatching MONDO:0002976 stomach diverticulosis skos:exactMatch MEDGEN:218855 semapv:UnspecifiedMatching MONDO:0002976 stomach diverticulosis skos:exactMatch UMLS:C1148546 semapv:UnspecifiedMatching MONDO:0002976 stomach diverticulosis skos:exactMatch icd11.foundation:953342599 Gastric diverticulosis semapv:UnspecifiedMatching MONDO:0002976 stomach diverticulosis skos:exactMatch mesh:D045724 semapv:UnspecifiedMatching MONDO:0002977 autoimmune disorder of the nervous system skos:exactMatch DOID:438 autoimmune disease of the nervous system semapv:UnspecifiedMatching MONDO:0002977 autoimmune disorder of the nervous system skos:exactMatch MEDGEN:155946 semapv:UnspecifiedMatching MONDO:0002977 autoimmune disorder of the nervous system skos:exactMatch NCIT:C99383 Autoimmune Nervous System Disorder semapv:UnspecifiedMatching MONDO:0002977 autoimmune disorder of the nervous system skos:exactMatch UMLS:C0751871 semapv:UnspecifiedMatching MONDO:0002977 autoimmune disorder of the nervous system skos:exactMatch mesh:D020274 semapv:UnspecifiedMatching MONDO:0002978 orbit alveolar rhabdomyosarcoma skos:exactMatch DOID:4384 orbit alveolar rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0002978 orbit alveolar rhabdomyosarcoma skos:exactMatch MEDGEN:235408 semapv:UnspecifiedMatching MONDO:0002978 orbit alveolar rhabdomyosarcoma skos:exactMatch NCIT:C6247 Orbital Alveolar Rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0002978 orbit alveolar rhabdomyosarcoma skos:exactMatch UMLS:C1335126 semapv:UnspecifiedMatching MONDO:0002979 papillary squamous carcinoma skos:exactMatch DOID:4385 papillary squamous carcinoma semapv:UnspecifiedMatching MONDO:0002979 papillary squamous carcinoma skos:exactMatch MEDGEN:83115 semapv:UnspecifiedMatching MONDO:0002979 papillary squamous carcinoma skos:exactMatch NCIT:C4102 Papillary Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0002979 papillary squamous carcinoma skos:exactMatch UMLS:C0334244 semapv:UnspecifiedMatching MONDO:0002981 peripheral primitive neuroectodermal tumor of bone skos:exactMatch DOID:4388 bone peripheral neuroepithelioma semapv:UnspecifiedMatching MONDO:0002981 peripheral primitive neuroectodermal tumor of bone skos:exactMatch MEDGEN:163179 semapv:UnspecifiedMatching MONDO:0002981 peripheral primitive neuroectodermal tumor of bone skos:exactMatch NCIT:C8776 Peripheral Primitive Neuroectodermal Tumor of Bone semapv:UnspecifiedMatching MONDO:0002981 peripheral primitive neuroectodermal tumor of bone skos:exactMatch UMLS:C0855009 semapv:UnspecifiedMatching MONDO:0002982 peripheral primitive neuroectodermal tumor of soft tissues skos:exactMatch DOID:4389 soft tissue peripheral neuroepithelioma semapv:UnspecifiedMatching MONDO:0002982 peripheral primitive neuroectodermal tumor of soft tissues skos:exactMatch MEDGEN:205115 semapv:UnspecifiedMatching MONDO:0002982 peripheral primitive neuroectodermal tumor of soft tissues skos:exactMatch NCIT:C27471 Peripheral Primitive Neuroectodermal Tumor of Soft Tissues semapv:UnspecifiedMatching MONDO:0002982 peripheral primitive neuroectodermal tumor of soft tissues skos:exactMatch UMLS:C1112437 semapv:UnspecifiedMatching MONDO:0002984 reticulohistiocytic granuloma skos:exactMatch DOID:4394 reticulohistiocytic granuloma semapv:UnspecifiedMatching MONDO:0002984 reticulohistiocytic granuloma skos:exactMatch MEDGEN:48431 semapv:UnspecifiedMatching MONDO:0002984 reticulohistiocytic granuloma skos:exactMatch NCIT:C3356 Solitary Reticulohistiocytoma semapv:UnspecifiedMatching MONDO:0002984 reticulohistiocytic granuloma skos:exactMatch SCTID:404162004 semapv:UnspecifiedMatching MONDO:0002984 reticulohistiocytic granuloma skos:exactMatch UMLS:C0035290 semapv:UnspecifiedMatching MONDO:0002987 spongiotic dermatitis skos:exactMatch DOID:4406 spongiotic dermatitis semapv:UnspecifiedMatching MONDO:0002987 spongiotic dermatitis skos:exactMatch MEDGEN:120468 semapv:UnspecifiedMatching MONDO:0002987 spongiotic dermatitis skos:exactMatch NCIT:C27037 Spongiotic Dermatitis semapv:UnspecifiedMatching MONDO:0002987 spongiotic dermatitis skos:exactMatch SCTID:23615008 semapv:UnspecifiedMatching MONDO:0002987 spongiotic dermatitis skos:exactMatch UMLS:C0262984 semapv:UnspecifiedMatching MONDO:0002988 cervix melanoma skos:exactMatch DOID:4413 cervix melanoma semapv:UnspecifiedMatching MONDO:0002988 cervix melanoma skos:exactMatch MEDGEN:163764 semapv:UnspecifiedMatching MONDO:0002988 cervix melanoma skos:exactMatch NCIT:C40239 Cervical Melanoma semapv:UnspecifiedMatching MONDO:0002988 cervix melanoma skos:exactMatch UMLS:C0877611 semapv:UnspecifiedMatching MONDO:0002989 benign fibrous histiocytoma skos:exactMatch DOID:4415 fibrous histiocytoma semapv:UnspecifiedMatching MONDO:0002989 benign fibrous histiocytoma skos:exactMatch MEDGEN:60199 semapv:UnspecifiedMatching MONDO:0002989 benign fibrous histiocytoma skos:exactMatch NCIT:C3739 Fibrous Histiocytoma semapv:UnspecifiedMatching MONDO:0002989 benign fibrous histiocytoma skos:exactMatch UMLS:C0206644 semapv:UnspecifiedMatching MONDO:0002989 benign fibrous histiocytoma skos:exactMatch icd11.foundation:476723055 Benign fibrohistiocytic tumour semapv:UnspecifiedMatching MONDO:0002989 benign fibrous histiocytoma skos:exactMatch mesh:D018219 semapv:UnspecifiedMatching MONDO:0002990 benign deep fibrous histiocytoma skos:exactMatch DOID:4419 benign deep fibrous histiocytoma semapv:UnspecifiedMatching MONDO:0002990 benign deep fibrous histiocytoma skos:exactMatch MEDGEN:690110 semapv:UnspecifiedMatching MONDO:0002990 benign deep fibrous histiocytoma skos:exactMatch NCIT:C6492 Deep Fibrous Histiocytoma semapv:UnspecifiedMatching MONDO:0002990 benign deep fibrous histiocytoma skos:exactMatch UMLS:C1266125 semapv:UnspecifiedMatching MONDO:0002991 adenocarcinofibroma skos:exactMatch DOID:4422 malignant adenofibroma semapv:UnspecifiedMatching MONDO:0002991 adenocarcinofibroma skos:exactMatch MEDGEN:266966 semapv:UnspecifiedMatching MONDO:0002991 adenocarcinofibroma skos:exactMatch NCIT:C40035 Adenocarcinofibroma semapv:UnspecifiedMatching MONDO:0002991 adenocarcinofibroma skos:exactMatch UMLS:C1510778 semapv:UnspecifiedMatching MONDO:0002993 pancreatic somatostatinoma skos:exactMatch DOID:4432 pancreatic somatostatinoma semapv:UnspecifiedMatching MONDO:0002993 pancreatic somatostatinoma skos:exactMatch MEDGEN:235079 semapv:UnspecifiedMatching MONDO:0002993 pancreatic somatostatinoma skos:exactMatch NCIT:C95595 Pancreatic Somatostatinoma semapv:UnspecifiedMatching MONDO:0002993 pancreatic somatostatinoma skos:exactMatch UMLS:C1368041 semapv:UnspecifiedMatching MONDO:0002994 pancreatic delta cell neuroendocrine tumor skos:exactMatch DOID:4433 pancreatic delta cell neoplasm semapv:UnspecifiedMatching MONDO:0002994 pancreatic delta cell neuroendocrine tumor skos:exactMatch MEDGEN:233303 semapv:UnspecifiedMatching MONDO:0002994 pancreatic delta cell neuroendocrine tumor skos:exactMatch NCIT:C28396 Pancreatic Delta Cell Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO:0002994 pancreatic delta cell neuroendocrine tumor skos:exactMatch UMLS:C1335301 semapv:UnspecifiedMatching MONDO:0002995 small intestine neuroendocrine tumor, well differentiated, low or intermediate grade skos:exactMatch MEDGEN:474161 semapv:UnspecifiedMatching MONDO:0002995 small intestine neuroendocrine tumor, well differentiated, low or intermediate grade skos:exactMatch NCIT:C96061 Small Intestinal Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO:0002995 small intestine neuroendocrine tumor, well differentiated, low or intermediate grade skos:exactMatch UMLS:C3272528 semapv:UnspecifiedMatching MONDO:0002996 cavernous sinus meningioma skos:exactMatch DOID:4435 cavernous sinus meningioma semapv:UnspecifiedMatching MONDO:0002996 cavernous sinus meningioma skos:exactMatch MEDGEN:232034 semapv:UnspecifiedMatching MONDO:0002996 cavernous sinus meningioma skos:exactMatch NCIT:C5268 Cavernous Sinus Meningioma semapv:UnspecifiedMatching MONDO:0002996 cavernous sinus meningioma skos:exactMatch UMLS:C1332865 semapv:UnspecifiedMatching MONDO:0002997 anterior cranial fossa meningioma skos:exactMatch DOID:4436 anterior cranial fossa meningioma semapv:UnspecifiedMatching MONDO:0002997 anterior cranial fossa meningioma skos:exactMatch MEDGEN:272315 semapv:UnspecifiedMatching MONDO:0002997 anterior cranial fossa meningioma skos:exactMatch NCIT:C5286 Anterior Cranial Fossa Meningioma semapv:UnspecifiedMatching MONDO:0002997 anterior cranial fossa meningioma skos:exactMatch UMLS:C1332301 semapv:UnspecifiedMatching MONDO:0002998 skull base meningioma skos:exactMatch DOID:4437 skull base meningioma semapv:UnspecifiedMatching MONDO:0002998 skull base meningioma skos:exactMatch MEDGEN:233449 semapv:UnspecifiedMatching MONDO:0002998 skull base meningioma skos:exactMatch NCIT:C5272 Skull Base Meningioma semapv:UnspecifiedMatching MONDO:0002998 skull base meningioma skos:exactMatch UMLS:C1335976 semapv:UnspecifiedMatching MONDO:0002999 central nervous system germinoma skos:exactMatch DOID:4438 central nervous system germinoma semapv:UnspecifiedMatching MONDO:0002999 central nervous system germinoma skos:exactMatch MEDGEN:232242 semapv:UnspecifiedMatching MONDO:0002999 central nervous system germinoma skos:exactMatch NCIT:C7009 Central Nervous System Germinoma semapv:UnspecifiedMatching MONDO:0002999 central nervous system germinoma skos:exactMatch UMLS:C1333813 semapv:UnspecifiedMatching MONDO:0003000 central nervous system germ cell tumor skos:exactMatch DOID:4439 central nervous system germ cell tumor semapv:UnspecifiedMatching MONDO:0003000 central nervous system germ cell tumor skos:exactMatch MEDGEN:232040 semapv:UnspecifiedMatching MONDO:0003000 central nervous system germ cell tumor skos:exactMatch NCIT:C5461 Central Nervous System Germ Cell Tumor semapv:UnspecifiedMatching MONDO:0003000 central nervous system germ cell tumor skos:exactMatch UMLS:C1332880 semapv:UnspecifiedMatching MONDO:0003001 seminoma skos:exactMatch DOID:4440 seminoma semapv:UnspecifiedMatching MONDO:0003001 seminoma skos:exactMatch MEDGEN:11371 semapv:UnspecifiedMatching MONDO:0003001 seminoma skos:exactMatch NCIT:C9309 Seminoma semapv:UnspecifiedMatching MONDO:0003001 seminoma skos:exactMatch SCTID:443675005 semapv:UnspecifiedMatching MONDO:0003001 seminoma skos:exactMatch UMLS:C0036631 semapv:UnspecifiedMatching MONDO:0003001 seminoma skos:exactMatch mesh:D018239 semapv:UnspecifiedMatching MONDO:0003002 dysgerminoma skos:exactMatch DOID:4441 dysgerminoma semapv:UnspecifiedMatching MONDO:0003002 dysgerminoma skos:exactMatch MEDGEN:41680 semapv:UnspecifiedMatching MONDO:0003002 dysgerminoma skos:exactMatch UMLS:C0013377 semapv:UnspecifiedMatching MONDO:0003002 dysgerminoma skos:exactMatch icd11.foundation:817547820 semapv:UnspecifiedMatching MONDO:0003002 dysgerminoma skos:exactMatch mesh:D004407 semapv:UnspecifiedMatching MONDO:0003003 cervical alveolar soft part sarcoma skos:exactMatch DOID:4442 cervical alveolar soft part sarcoma semapv:UnspecifiedMatching MONDO:0003003 cervical alveolar soft part sarcoma skos:exactMatch MEDGEN:273905 semapv:UnspecifiedMatching MONDO:0003003 cervical alveolar soft part sarcoma skos:exactMatch NCIT:C40225 Cervical Alveolar Soft Part Sarcoma semapv:UnspecifiedMatching MONDO:0003003 cervical alveolar soft part sarcoma skos:exactMatch UMLS:C1516408 semapv:UnspecifiedMatching MONDO:0003004 macular degeneration skos:exactMatch DOID:4448 macular degeneration semapv:UnspecifiedMatching MONDO:0003004 macular degeneration skos:exactMatch EFO:0009606 semapv:UnspecifiedMatching MONDO:0003004 macular degeneration skos:exactMatch MEDGEN:7434 semapv:UnspecifiedMatching MONDO:0003004 macular degeneration skos:exactMatch NCIT:C123330 Macular Degeneration semapv:UnspecifiedMatching MONDO:0003004 macular degeneration skos:exactMatch SCTID:422338006 semapv:UnspecifiedMatching MONDO:0003004 macular degeneration skos:exactMatch UMLS:C0024437 semapv:UnspecifiedMatching MONDO:0003004 macular degeneration skos:exactMatch mesh:D008268 semapv:UnspecifiedMatching MONDO:0003005 macular retinal edema skos:exactMatch DOID:4449 macular retinal edema semapv:UnspecifiedMatching MONDO:0003005 macular retinal edema skos:exactMatch MEDGEN:75732 semapv:UnspecifiedMatching MONDO:0003005 macular retinal edema skos:exactMatch NCIT:C35468 Macular Edema semapv:UnspecifiedMatching MONDO:0003005 macular retinal edema skos:exactMatch SCTID:37231002 semapv:UnspecifiedMatching MONDO:0003005 macular retinal edema skos:exactMatch UMLS:C0271051 semapv:UnspecifiedMatching MONDO:0003007 childhood kidney cell carcinoma skos:exactMatch DOID:4454 childhood kidney cell carcinoma semapv:UnspecifiedMatching MONDO:0003007 childhood kidney cell carcinoma skos:exactMatch MEDGEN:232070 semapv:UnspecifiedMatching MONDO:0003007 childhood kidney cell carcinoma skos:exactMatch NCIT:C6568 Childhood Renal Cell Carcinoma semapv:UnspecifiedMatching MONDO:0003007 childhood kidney cell carcinoma skos:exactMatch UMLS:C1333001 semapv:UnspecifiedMatching MONDO:0003008 hereditary renal cell carcinoma skos:exactMatch DOID:4455 hereditary renal cell carcinoma semapv:UnspecifiedMatching MONDO:0003008 hereditary renal cell carcinoma skos:exactMatch MEDGEN:392857 semapv:UnspecifiedMatching MONDO:0003008 hereditary renal cell carcinoma skos:exactMatch NCIT:C39789 Hereditary Renal Cell Carcinoma semapv:UnspecifiedMatching MONDO:0003008 hereditary renal cell carcinoma skos:exactMatch SCTID:717736007 semapv:UnspecifiedMatching MONDO:0003008 hereditary renal cell carcinoma skos:exactMatch UMLS:C2608055 semapv:UnspecifiedMatching MONDO:0003008 hereditary renal cell carcinoma skos:exactMatch mesh:C536851 semapv:UnspecifiedMatching MONDO:0003009 hyperaldosteronism skos:exactMatch DOID:446 primary hyperaldosteronism semapv:UnspecifiedMatching MONDO:0003009 hyperaldosteronism skos:exactMatch EFO:0009452 semapv:UnspecifiedMatching MONDO:0003009 hyperaldosteronism skos:exactMatch ICD10CM:E26 Hyperaldosteronism semapv:UnspecifiedMatching MONDO:0003009 hyperaldosteronism skos:exactMatch ICD10WHO:E26 Hyperaldosteronism semapv:UnspecifiedMatching MONDO:0003009 hyperaldosteronism skos:exactMatch MEDGEN:6960 semapv:UnspecifiedMatching MONDO:0003009 hyperaldosteronism skos:exactMatch SCTID:88213004 semapv:UnspecifiedMatching MONDO:0003009 hyperaldosteronism skos:exactMatch UMLS:C0020428 semapv:UnspecifiedMatching MONDO:0003009 hyperaldosteronism skos:exactMatch icd11.foundation:1937534076 Hyperaldosteronism semapv:UnspecifiedMatching MONDO:0003009 hyperaldosteronism skos:exactMatch mesh:D006929 semapv:UnspecifiedMatching MONDO:0003010 multilocular clear cell renal cell carcinoma skos:exactMatch DOID:4463 multilocular clear cell renal cell carcinoma semapv:UnspecifiedMatching MONDO:0003010 multilocular clear cell renal cell carcinoma skos:exactMatch MEDGEN:87547 semapv:UnspecifiedMatching MONDO:0003010 multilocular clear cell renal cell carcinoma skos:exactMatch NCIT:C4524 Multilocular Cystic Renal Neoplasm of Low Malignant Potential semapv:UnspecifiedMatching MONDO:0003010 multilocular clear cell renal cell carcinoma skos:exactMatch Orphanet:319287 Multilocular cystic renal neoplasm of low malignant potential semapv:UnspecifiedMatching MONDO:0003010 multilocular clear cell renal cell carcinoma skos:exactMatch SCTID:254916002 semapv:UnspecifiedMatching MONDO:0003010 multilocular clear cell renal cell carcinoma skos:exactMatch UMLS:C0346249 semapv:UnspecifiedMatching MONDO:0003011 mucinous tubular and spindle renal cell carcinoma skos:exactMatch DOID:4472 mucinous tubular and spindle renal cell carcinoma semapv:UnspecifiedMatching MONDO:0003011 mucinous tubular and spindle renal cell carcinoma skos:exactMatch MEDGEN:1640204 semapv:UnspecifiedMatching MONDO:0003011 mucinous tubular and spindle renal cell carcinoma skos:exactMatch NCIT:C39807 Mucinous Tubular and Spindle Cell Carcinoma of the Kidney semapv:UnspecifiedMatching MONDO:0003011 mucinous tubular and spindle renal cell carcinoma skos:exactMatch Orphanet:319322 Mucinous tubular and spindle cell renal carcinoma semapv:UnspecifiedMatching MONDO:0003011 mucinous tubular and spindle renal cell carcinoma skos:exactMatch SCTID:764990003 semapv:UnspecifiedMatching MONDO:0003011 mucinous tubular and spindle renal cell carcinoma skos:exactMatch UMLS:C4707257 semapv:UnspecifiedMatching MONDO:0003012 sarcomatoid renal cell carcinoma skos:exactMatch DOID:4473 sarcomatoid renal cell carcinoma semapv:UnspecifiedMatching MONDO:0003012 sarcomatoid renal cell carcinoma skos:exactMatch MEDGEN:220411 semapv:UnspecifiedMatching MONDO:0003012 sarcomatoid renal cell carcinoma skos:exactMatch NCIT:C27893 Sarcomatoid Renal Cell Carcinoma semapv:UnspecifiedMatching MONDO:0003012 sarcomatoid renal cell carcinoma skos:exactMatch UMLS:C1266043 semapv:UnspecifiedMatching MONDO:0003014 rhinitis skos:exactMatch DOID:4483 rhinitis semapv:UnspecifiedMatching MONDO:0003014 rhinitis skos:exactMatch EFO:0008521 semapv:UnspecifiedMatching MONDO:0003014 rhinitis skos:exactMatch ICD10CM:J30 Vasomotor and allergic rhinitis semapv:UnspecifiedMatching MONDO:0003014 rhinitis skos:exactMatch MEDGEN:19782 semapv:UnspecifiedMatching MONDO:0003014 rhinitis skos:exactMatch NCIT:C34986 Rhinitis semapv:UnspecifiedMatching MONDO:0003014 rhinitis skos:exactMatch SCTID:70076002 semapv:UnspecifiedMatching MONDO:0003014 rhinitis skos:exactMatch UMLS:C0035455 semapv:UnspecifiedMatching MONDO:0003014 rhinitis skos:exactMatch mesh:D012220 semapv:UnspecifiedMatching MONDO:0003017 malignant peritoneal solitary fibrous tumor skos:exactMatch DOID:4490 malignant peritoneal solitary fibrous tumor semapv:UnspecifiedMatching MONDO:0003019 potassium deficiency disease skos:exactMatch DOID:4500 hypokalemia semapv:UnspecifiedMatching MONDO:0003019 potassium deficiency disease skos:exactMatch ICD10CM:E87.6 Hypokalemia semapv:UnspecifiedMatching MONDO:0003019 potassium deficiency disease skos:exactMatch MEDGEN:271346 semapv:UnspecifiedMatching MONDO:0003019 potassium deficiency disease skos:exactMatch NCIT:C34939 Potassium Deficiency Disorder semapv:UnspecifiedMatching MONDO:0003019 potassium deficiency disease skos:exactMatch SCTID:43339004 semapv:UnspecifiedMatching MONDO:0003019 potassium deficiency disease skos:exactMatch UMLS:C1514284 semapv:UnspecifiedMatching MONDO:0003019 potassium deficiency disease skos:exactMatch mesh:D007008 semapv:UnspecifiedMatching MONDO:0003021 central nervous system angiosarcoma skos:exactMatch DOID:4504 central nervous system angiosarcoma semapv:UnspecifiedMatching MONDO:0003021 central nervous system angiosarcoma skos:exactMatch MEDGEN:272441 semapv:UnspecifiedMatching MONDO:0003021 central nervous system angiosarcoma skos:exactMatch NCIT:C5450 Central Nervous System Angiosarcoma semapv:UnspecifiedMatching MONDO:0003021 central nervous system angiosarcoma skos:exactMatch UMLS:C1332875 semapv:UnspecifiedMatching MONDO:0003022 pediatric angiosarcoma skos:exactMatch DOID:4505 childhood angiosarcoma semapv:UnspecifiedMatching MONDO:0003022 pediatric angiosarcoma skos:exactMatch MEDGEN:124687 semapv:UnspecifiedMatching MONDO:0003022 pediatric angiosarcoma skos:exactMatch NCIT:C9174 Childhood Angiosarcoma semapv:UnspecifiedMatching MONDO:0003022 pediatric angiosarcoma skos:exactMatch UMLS:C0279988 semapv:UnspecifiedMatching MONDO:0003023 aorta angiosarcoma skos:exactMatch DOID:4510 aorta angiosarcoma semapv:UnspecifiedMatching MONDO:0003023 aorta angiosarcoma skos:exactMatch MEDGEN:231071 semapv:UnspecifiedMatching MONDO:0003023 aorta angiosarcoma skos:exactMatch NCIT:C5376 Aortic Angiosarcoma semapv:UnspecifiedMatching MONDO:0003023 aorta angiosarcoma skos:exactMatch UMLS:C1332312 semapv:UnspecifiedMatching MONDO:0003024 breast angiosarcoma skos:exactMatch DOID:4511 breast angiosarcoma semapv:UnspecifiedMatching MONDO:0003024 breast angiosarcoma skos:exactMatch MEDGEN:272382 semapv:UnspecifiedMatching MONDO:0003024 breast angiosarcoma skos:exactMatch NCIT:C5184 Breast Angiosarcoma semapv:UnspecifiedMatching MONDO:0003024 breast angiosarcoma skos:exactMatch UMLS:C1332614 semapv:UnspecifiedMatching MONDO:0003024 breast angiosarcoma skos:exactMatch icd11.foundation:2050477809 Angiosarcoma of breast semapv:UnspecifiedMatching MONDO:0003024 breast angiosarcoma skos:exactMatch mesh:C536368 semapv:UnspecifiedMatching MONDO:0003025 conventional angiosarcoma skos:exactMatch DOID:4512 conventional angiosarcoma semapv:UnspecifiedMatching MONDO:0003025 conventional angiosarcoma skos:exactMatch MEDGEN:234174 semapv:UnspecifiedMatching MONDO:0003025 conventional angiosarcoma skos:exactMatch NCIT:C9426 Conventional Angiosarcoma semapv:UnspecifiedMatching MONDO:0003025 conventional angiosarcoma skos:exactMatch UMLS:C1333155 semapv:UnspecifiedMatching MONDO:0003026 gallbladder angiosarcoma skos:exactMatch DOID:4513 gallbladder angiosarcoma semapv:UnspecifiedMatching MONDO:0003026 gallbladder angiosarcoma skos:exactMatch MEDGEN:232222 semapv:UnspecifiedMatching MONDO:0003026 gallbladder angiosarcoma skos:exactMatch NCIT:C5840 Gallbladder Angiosarcoma semapv:UnspecifiedMatching MONDO:0003026 gallbladder angiosarcoma skos:exactMatch UMLS:C1333742 semapv:UnspecifiedMatching MONDO:0003027 thyroid gland angiosarcoma skos:exactMatch DOID:4514 thyroid angiosarcoma semapv:UnspecifiedMatching MONDO:0003027 thyroid gland angiosarcoma skos:exactMatch MEDGEN:277819 semapv:UnspecifiedMatching MONDO:0003027 thyroid gland angiosarcoma skos:exactMatch NCIT:C6043 Thyroid Gland Angiosarcoma semapv:UnspecifiedMatching MONDO:0003027 thyroid gland angiosarcoma skos:exactMatch UMLS:C1336748 semapv:UnspecifiedMatching MONDO:0003028 thyroid sarcoma skos:exactMatch DOID:4515 thyroid sarcoma semapv:UnspecifiedMatching MONDO:0003028 thyroid sarcoma skos:exactMatch MEDGEN:234950 semapv:UnspecifiedMatching MONDO:0003028 thyroid sarcoma skos:exactMatch NCIT:C6041 Thyroid Gland Sarcoma semapv:UnspecifiedMatching MONDO:0003028 thyroid sarcoma skos:exactMatch UMLS:C1336756 semapv:UnspecifiedMatching MONDO:0003029 skin angiosarcoma skos:exactMatch DOID:4517 skin angiosarcoma semapv:UnspecifiedMatching MONDO:0003029 skin angiosarcoma skos:exactMatch MEDGEN:87535 semapv:UnspecifiedMatching MONDO:0003029 skin angiosarcoma skos:exactMatch NCIT:C4489 Skin Angiosarcoma semapv:UnspecifiedMatching MONDO:0003029 skin angiosarcoma skos:exactMatch SCTID:254794007 semapv:UnspecifiedMatching MONDO:0003029 skin angiosarcoma skos:exactMatch UMLS:C0346081 semapv:UnspecifiedMatching MONDO:0003030 endometrioid stromal sarcoma of the cervix skos:exactMatch DOID:4520 cervical endometrial stromal sarcoma semapv:UnspecifiedMatching MONDO:0003030 endometrioid stromal sarcoma of the cervix skos:exactMatch MEDGEN:770966 semapv:UnspecifiedMatching MONDO:0003030 endometrioid stromal sarcoma of the cervix skos:exactMatch NCIT:C40220 Endometrioid Stromal Sarcoma of the Cervix semapv:UnspecifiedMatching MONDO:0003030 endometrioid stromal sarcoma of the cervix skos:exactMatch UMLS:C3642326 semapv:UnspecifiedMatching MONDO:0003031 endometrioid stromal and related neoplasms of the cervix skos:exactMatch DOID:4521 cervix endometrial stromal tumor semapv:UnspecifiedMatching MONDO:0003031 endometrioid stromal and related neoplasms of the cervix skos:exactMatch MEDGEN:927118 semapv:UnspecifiedMatching MONDO:0003031 endometrioid stromal and related neoplasms of the cervix skos:exactMatch NCIT:C40218 Cervical Endometrioid Stromal and Related Neoplasms semapv:UnspecifiedMatching MONDO:0003031 endometrioid stromal and related neoplasms of the cervix skos:exactMatch UMLS:C4289586 semapv:UnspecifiedMatching MONDO:0003032 superior vena cava angiosarcoma skos:exactMatch DOID:4522 superior vena cava angiosarcoma semapv:UnspecifiedMatching MONDO:0003032 superior vena cava angiosarcoma skos:exactMatch MEDGEN:234373 semapv:UnspecifiedMatching MONDO:0003032 superior vena cava angiosarcoma skos:exactMatch NCIT:C5378 Superior Vena Cava Angiosarcoma semapv:UnspecifiedMatching MONDO:0003032 superior vena cava angiosarcoma skos:exactMatch UMLS:C1336530 semapv:UnspecifiedMatching MONDO:0003033 prostate angiosarcoma skos:exactMatch DOID:4524 prostate angiosarcoma semapv:UnspecifiedMatching MONDO:0003033 prostate angiosarcoma skos:exactMatch MEDGEN:235498 semapv:UnspecifiedMatching MONDO:0003033 prostate angiosarcoma skos:exactMatch NCIT:C5528 Prostate Angiosarcoma semapv:UnspecifiedMatching MONDO:0003033 prostate angiosarcoma skos:exactMatch UMLS:C1335504 semapv:UnspecifiedMatching MONDO:0003034 mediastinum angiosarcoma skos:exactMatch DOID:4525 mediastinum angiosarcoma semapv:UnspecifiedMatching MONDO:0003034 mediastinum angiosarcoma skos:exactMatch MEDGEN:233676 semapv:UnspecifiedMatching MONDO:0003034 mediastinum angiosarcoma skos:exactMatch NCIT:C6613 Mediastinal Angiosarcoma semapv:UnspecifiedMatching MONDO:0003034 mediastinum angiosarcoma skos:exactMatch UMLS:C1334649 semapv:UnspecifiedMatching MONDO:0003035 ovarian angiosarcoma skos:exactMatch DOID:4527 ovarian angiosarcoma semapv:UnspecifiedMatching MONDO:0003035 ovarian angiosarcoma skos:exactMatch MEDGEN:233805 semapv:UnspecifiedMatching MONDO:0003035 ovarian angiosarcoma skos:exactMatch NCIT:C5232 Ovarian Angiosarcoma semapv:UnspecifiedMatching MONDO:0003035 ovarian angiosarcoma skos:exactMatch UMLS:C1335152 semapv:UnspecifiedMatching MONDO:0003036 mucoepidermoid carcinoma skos:exactMatch DOID:4531 mucoepidermoid carcinoma semapv:UnspecifiedMatching MONDO:0003036 mucoepidermoid carcinoma skos:exactMatch MEDGEN:61662 semapv:UnspecifiedMatching MONDO:0003036 mucoepidermoid carcinoma skos:exactMatch NCIT:C3772 Mucoepidermoid Carcinoma semapv:UnspecifiedMatching MONDO:0003036 mucoepidermoid carcinoma skos:exactMatch UMLS:C0206694 semapv:UnspecifiedMatching MONDO:0003036 mucoepidermoid carcinoma skos:exactMatch icd11.foundation:287052516 semapv:UnspecifiedMatching MONDO:0003036 mucoepidermoid carcinoma skos:exactMatch mesh:D018277 semapv:UnspecifiedMatching MONDO:0003036 mucoepidermoid carcinoma skos:exactMatch mesh:D018298 semapv:UnspecifiedMatching MONDO:0003037 hypotrichosis skos:exactMatch DOID:4535 hypotrichosis semapv:UnspecifiedMatching MONDO:0003037 hypotrichosis skos:exactMatch MEDGEN:6993 semapv:UnspecifiedMatching MONDO:0003037 hypotrichosis skos:exactMatch NCIT:C34720 Hypotrichosis semapv:UnspecifiedMatching MONDO:0003037 hypotrichosis skos:exactMatch OMIMPS:605389 Hypotrichosis semapv:UnspecifiedMatching MONDO:0003037 hypotrichosis skos:exactMatch SCTID:53602002 semapv:UnspecifiedMatching MONDO:0003037 hypotrichosis skos:exactMatch UMLS:C0020678 semapv:UnspecifiedMatching MONDO:0003037 hypotrichosis skos:exactMatch mesh:D007039 semapv:UnspecifiedMatching MONDO:0003038 dysgraphia skos:exactMatch DOID:4540 dysgraphia semapv:UnspecifiedMatching MONDO:0003038 dysgraphia skos:exactMatch MEDGEN:115942 semapv:UnspecifiedMatching MONDO:0003038 dysgraphia skos:exactMatch NCIT:C182452 Dysgraphia semapv:UnspecifiedMatching MONDO:0003038 dysgraphia skos:exactMatch UMLS:C0234144 semapv:UnspecifiedMatching MONDO:0003039 nominal aphasia skos:exactMatch DOID:4541 nominal aphasia semapv:UnspecifiedMatching MONDO:0003039 nominal aphasia skos:exactMatch MEDGEN:312 semapv:UnspecifiedMatching MONDO:0003039 nominal aphasia skos:exactMatch UMLS:C0003113 semapv:UnspecifiedMatching MONDO:0003039 nominal aphasia skos:exactMatch mesh:D000849 semapv:UnspecifiedMatching MONDO:0003040 retrograde amnesia skos:exactMatch DOID:4543 retrograde amnesia semapv:UnspecifiedMatching MONDO:0003040 retrograde amnesia skos:exactMatch ICD10CM:R41.2 Retrograde amnesia semapv:UnspecifiedMatching MONDO:0003040 retrograde amnesia skos:exactMatch MEDGEN:264 semapv:UnspecifiedMatching MONDO:0003040 retrograde amnesia skos:exactMatch UMLS:C0002624 semapv:UnspecifiedMatching MONDO:0003040 retrograde amnesia skos:exactMatch icd11.foundation:1405777748 Retrograde amnesia semapv:UnspecifiedMatching MONDO:0003040 retrograde amnesia skos:exactMatch mesh:D000648 semapv:UnspecifiedMatching MONDO:0003041 pediatric mesenchymal chondrosarcoma skos:exactMatch DOID:4546 childhood mesenchymal chondrosarcoma semapv:UnspecifiedMatching MONDO:0003041 pediatric mesenchymal chondrosarcoma skos:exactMatch MEDGEN:232063 semapv:UnspecifiedMatching MONDO:0003041 pediatric mesenchymal chondrosarcoma skos:exactMatch NCIT:C27374 Childhood Mesenchymal Chondrosarcoma semapv:UnspecifiedMatching MONDO:0003041 pediatric mesenchymal chondrosarcoma skos:exactMatch UMLS:C1332982 semapv:UnspecifiedMatching MONDO:0003042 adult mesenchymal chondrosarcoma skos:exactMatch DOID:4547 adult mesenchymal chondrosarcoma semapv:UnspecifiedMatching MONDO:0003042 adult mesenchymal chondrosarcoma skos:exactMatch MEDGEN:272296 semapv:UnspecifiedMatching MONDO:0003042 adult mesenchymal chondrosarcoma skos:exactMatch NCIT:C27375 Adult Mesenchymal Chondrosarcoma semapv:UnspecifiedMatching MONDO:0003042 adult mesenchymal chondrosarcoma skos:exactMatch UMLS:C1332207 semapv:UnspecifiedMatching MONDO:0003043 obsolete extraskeletal mesenchymal chondrosarcoma skos:exactMatch DOID:4548 extraskeletal mesenchymal chondrosarcoma semapv:UnspecifiedMatching MONDO:0003043 obsolete extraskeletal mesenchymal chondrosarcoma skos:exactMatch NCIT:C27481 Mesenchymal Extraskeletal Chondrosarcoma semapv:UnspecifiedMatching MONDO:0003043 obsolete extraskeletal mesenchymal chondrosarcoma skos:exactMatch SCTID:404080006 semapv:UnspecifiedMatching MONDO:0003044 obsolete extraosseous chondrosarcoma skos:exactMatch DOID:4549 extraskeletal myxoid chondrosarcoma semapv:UnspecifiedMatching MONDO:0003045 anal gland neoplasm skos:exactMatch DOID:4550 anal gland neoplasm semapv:UnspecifiedMatching MONDO:0003045 anal gland neoplasm skos:exactMatch MEDGEN:1897 semapv:UnspecifiedMatching MONDO:0003045 anal gland neoplasm skos:exactMatch UMLS:C0002757 semapv:UnspecifiedMatching MONDO:0003045 anal gland neoplasm skos:exactMatch mesh:D000694 semapv:UnspecifiedMatching MONDO:0003046 anus neoplasm skos:exactMatch DOID:4551 anus benign neoplasm semapv:UnspecifiedMatching MONDO:0003046 anus neoplasm skos:exactMatch EFO:0003835 semapv:UnspecifiedMatching MONDO:0003046 anus neoplasm skos:exactMatch MEDGEN:360 semapv:UnspecifiedMatching MONDO:0003046 anus neoplasm skos:exactMatch NCIT:C2877 Anal Neoplasm semapv:UnspecifiedMatching MONDO:0003046 anus neoplasm skos:exactMatch SCTID:126849006 semapv:UnspecifiedMatching MONDO:0003046 anus neoplasm skos:exactMatch UMLS:C0003463 semapv:UnspecifiedMatching MONDO:0003046 anus neoplasm skos:exactMatch mesh:D001005 semapv:UnspecifiedMatching MONDO:0003047 thymic large cell neuroendocrine carcinoma skos:exactMatch DOID:4553 thymus large cell carcinoma semapv:UnspecifiedMatching MONDO:0003047 thymic large cell neuroendocrine carcinoma skos:exactMatch MEDGEN:235250 semapv:UnspecifiedMatching MONDO:0003047 thymic large cell neuroendocrine carcinoma skos:exactMatch NCIT:C6461 Thymus Large Cell Neuroendocrine Carcinoma semapv:UnspecifiedMatching MONDO:0003047 thymic large cell neuroendocrine carcinoma skos:exactMatch UMLS:C1334364 semapv:UnspecifiedMatching MONDO:0003049 ovarian large-cell neuroendocrine carcinoma skos:exactMatch DOID:4555 ovarian large-cell neuroendocrine carcinoma semapv:UnspecifiedMatching MONDO:0003049 ovarian large-cell neuroendocrine carcinoma skos:exactMatch MEDGEN:233809 semapv:UnspecifiedMatching MONDO:0003049 ovarian large-cell neuroendocrine carcinoma skos:exactMatch NCIT:C5238 Ovarian Large Cell Neuroendocrine Carcinoma semapv:UnspecifiedMatching MONDO:0003049 ovarian large-cell neuroendocrine carcinoma skos:exactMatch UMLS:C1335174 semapv:UnspecifiedMatching MONDO:0003050 lung large cell carcinoma skos:exactMatch DOID:4556 lung large cell carcinoma semapv:UnspecifiedMatching MONDO:0003050 lung large cell carcinoma skos:exactMatch EFO:0003050 semapv:UnspecifiedMatching MONDO:0003050 lung large cell carcinoma skos:exactMatch MEDGEN:91060 semapv:UnspecifiedMatching MONDO:0003050 lung large cell carcinoma skos:exactMatch NCIT:C4450 Lung Large Cell Carcinoma semapv:UnspecifiedMatching MONDO:0003050 lung large cell carcinoma skos:exactMatch SCTID:254629004 semapv:UnspecifiedMatching MONDO:0003050 lung large cell carcinoma skos:exactMatch UMLS:C0345958 semapv:UnspecifiedMatching MONDO:0003051 non specific chronic endometritis skos:exactMatch DOID:4560 non specific chronic endometritis semapv:UnspecifiedMatching MONDO:0003051 non specific chronic endometritis skos:exactMatch MEDGEN:235394 semapv:UnspecifiedMatching MONDO:0003051 non specific chronic endometritis skos:exactMatch NCIT:C27625 Non Specific Chronic Endometritis semapv:UnspecifiedMatching MONDO:0003051 non specific chronic endometritis skos:exactMatch UMLS:C1335061 semapv:UnspecifiedMatching MONDO:0003052 granulomatous endometritis skos:exactMatch DOID:4561 granulomatous endometritis semapv:UnspecifiedMatching MONDO:0003052 granulomatous endometritis skos:exactMatch MEDGEN:234322 semapv:UnspecifiedMatching MONDO:0003052 granulomatous endometritis skos:exactMatch NCIT:C27626 Granulomatous Endometritis semapv:UnspecifiedMatching MONDO:0003052 granulomatous endometritis skos:exactMatch UMLS:C1333876 semapv:UnspecifiedMatching MONDO:0003053 choroid plexus meningioma skos:exactMatch DOID:4584 choroid plexus meningioma semapv:UnspecifiedMatching MONDO:0003053 choroid plexus meningioma skos:exactMatch MEDGEN:98458 semapv:UnspecifiedMatching MONDO:0003053 choroid plexus meningioma skos:exactMatch NCIT:C4719 Choroid Plexus Meningioma semapv:UnspecifiedMatching MONDO:0003053 choroid plexus meningioma skos:exactMatch UMLS:C0431118 semapv:UnspecifiedMatching MONDO:0003054 benign meningioma skos:exactMatch DOID:4587 benign meningioma semapv:UnspecifiedMatching MONDO:0003054 benign meningioma skos:exactMatch MEDGEN:129095 semapv:UnspecifiedMatching MONDO:0003054 benign meningioma skos:exactMatch SCTID:724171006 semapv:UnspecifiedMatching MONDO:0003054 benign meningioma skos:exactMatch UMLS:C0281784 semapv:UnspecifiedMatching MONDO:0003055 secretory meningioma skos:exactMatch DOID:4588 secretory meningioma semapv:UnspecifiedMatching MONDO:0003055 secretory meningioma skos:exactMatch MEDGEN:277998 semapv:UnspecifiedMatching MONDO:0003055 secretory meningioma skos:exactMatch NCIT:C4718 Secretory Meningioma semapv:UnspecifiedMatching MONDO:0003055 secretory meningioma skos:exactMatch UMLS:C1384406 semapv:UnspecifiedMatching MONDO:0003056 lymphoplasmacyte-rich meningioma skos:exactMatch DOID:4591 lymphoplasmacyte-rich meningioma semapv:UnspecifiedMatching MONDO:0003056 lymphoplasmacyte-rich meningioma skos:exactMatch MEDGEN:140907 semapv:UnspecifiedMatching MONDO:0003056 lymphoplasmacyte-rich meningioma skos:exactMatch NCIT:C4720 Lymphoplasmacyte-Rich Meningioma semapv:UnspecifiedMatching MONDO:0003056 lymphoplasmacyte-rich meningioma skos:exactMatch UMLS:C0431119 semapv:UnspecifiedMatching MONDO:0003057 pediatric meningioma skos:exactMatch DOID:4593 childhood meningioma semapv:UnspecifiedMatching MONDO:0003057 pediatric meningioma skos:exactMatch MEDGEN:79156 semapv:UnspecifiedMatching MONDO:0003057 pediatric meningioma skos:exactMatch NCIT:C8264 Childhood Meningioma semapv:UnspecifiedMatching MONDO:0003057 pediatric meningioma skos:exactMatch UMLS:C0280656 semapv:UnspecifiedMatching MONDO:0003058 microcystic meningioma skos:exactMatch DOID:4594 microcystic meningioma semapv:UnspecifiedMatching MONDO:0003058 microcystic meningioma skos:exactMatch MEDGEN:234616 semapv:UnspecifiedMatching MONDO:0003058 microcystic meningioma skos:exactMatch NCIT:C4721 Microcystic Meningioma semapv:UnspecifiedMatching MONDO:0003058 microcystic meningioma skos:exactMatch UMLS:C1384408 semapv:UnspecifiedMatching MONDO:0003059 bile duct cancer skos:exactMatch DOID:4606 bile duct cancer semapv:UnspecifiedMatching MONDO:0003060 biliary tract cancer skos:exactMatch DOID:4607 biliary tract cancer semapv:UnspecifiedMatching MONDO:0003060 biliary tract cancer skos:exactMatch MEDGEN:155474 semapv:UnspecifiedMatching MONDO:0003060 biliary tract cancer skos:exactMatch UMLS:C0750952 semapv:UnspecifiedMatching MONDO:0003061 benign muscle neoplasm skos:exactMatch DOID:2691 myoma semapv:UnspecifiedMatching MONDO:0003061 benign muscle neoplasm skos:exactMatch DOID:461 muscle benign neoplasm semapv:UnspecifiedMatching MONDO:0003061 benign muscle neoplasm skos:exactMatch MEDGEN:10236 semapv:UnspecifiedMatching MONDO:0003061 benign muscle neoplasm skos:exactMatch NCIT:C4882 Myoma semapv:UnspecifiedMatching MONDO:0003061 benign muscle neoplasm skos:exactMatch UMLS:C0027086 semapv:UnspecifiedMatching MONDO:0003061 benign muscle neoplasm skos:exactMatch mesh:D009214 semapv:UnspecifiedMatching MONDO:0003062 intestinal benign neoplasm skos:exactMatch MEDGEN:91124 semapv:UnspecifiedMatching MONDO:0003062 intestinal benign neoplasm skos:exactMatch NCIT:C4609 Benign Intestinal Neoplasm semapv:UnspecifiedMatching MONDO:0003062 intestinal benign neoplasm skos:exactMatch SCTID:92151003 semapv:UnspecifiedMatching MONDO:0003062 intestinal benign neoplasm skos:exactMatch UMLS:C0347269 semapv:UnspecifiedMatching MONDO:0003064 inverted transitional cell papilloma skos:exactMatch DOID:4630 inverted transitional papilloma semapv:UnspecifiedMatching MONDO:0003064 inverted transitional cell papilloma skos:exactMatch MEDGEN:1790412 semapv:UnspecifiedMatching MONDO:0003064 inverted transitional cell papilloma skos:exactMatch UMLS:C5551359 semapv:UnspecifiedMatching MONDO:0003065 nasal cavity inverting papilloma skos:exactMatch DOID:4633 nasal cavity inverting papilloma semapv:UnspecifiedMatching MONDO:0003065 nasal cavity inverting papilloma skos:exactMatch MEDGEN:79106 semapv:UnspecifiedMatching MONDO:0003065 nasal cavity inverting papilloma skos:exactMatch NCIT:C8194 Nasal Cavity Inverted Papilloma semapv:UnspecifiedMatching MONDO:0003065 nasal cavity inverting papilloma skos:exactMatch UMLS:C0280336 semapv:UnspecifiedMatching MONDO:0003066 submandibular adenitis skos:exactMatch DOID:4636 submandibular adenitis semapv:UnspecifiedMatching MONDO:0003066 submandibular adenitis skos:exactMatch MEDGEN:66723 semapv:UnspecifiedMatching MONDO:0003066 submandibular adenitis skos:exactMatch NCIT:C27016 Submandibular Lymphadenitis semapv:UnspecifiedMatching MONDO:0003066 submandibular adenitis skos:exactMatch SCTID:15170009 semapv:UnspecifiedMatching MONDO:0003066 submandibular adenitis skos:exactMatch UMLS:C0235591 semapv:UnspecifiedMatching MONDO:0003067 cervical lymphadenitis skos:exactMatch DOID:4637 cervical adenitis semapv:UnspecifiedMatching MONDO:0003067 cervical lymphadenitis skos:exactMatch MEDGEN:101763 semapv:UnspecifiedMatching MONDO:0003067 cervical lymphadenitis skos:exactMatch NCIT:C26937 Cervical Lymphadenitis semapv:UnspecifiedMatching MONDO:0003067 cervical lymphadenitis skos:exactMatch SCTID:3502005 semapv:UnspecifiedMatching MONDO:0003067 cervical lymphadenitis skos:exactMatch UMLS:C0149642 semapv:UnspecifiedMatching MONDO:0003068 postauricular lymphadenitis skos:exactMatch DOID:4638 postauricular lymphadenitis semapv:UnspecifiedMatching MONDO:0003068 postauricular lymphadenitis skos:exactMatch MEDGEN:183076 semapv:UnspecifiedMatching MONDO:0003068 postauricular lymphadenitis skos:exactMatch NCIT:C27332 Postauricular Lymphadenitis semapv:UnspecifiedMatching MONDO:0003068 postauricular lymphadenitis skos:exactMatch UMLS:C0919638 semapv:UnspecifiedMatching MONDO:0003069 suppurative lymphadenitis skos:exactMatch DOID:4639 suppurative lymphadenitis semapv:UnspecifiedMatching MONDO:0003069 suppurative lymphadenitis skos:exactMatch MEDGEN:140258 semapv:UnspecifiedMatching MONDO:0003069 suppurative lymphadenitis skos:exactMatch NCIT:C27135 Suppurative Lymphadenitis semapv:UnspecifiedMatching MONDO:0003069 suppurative lymphadenitis skos:exactMatch SCTID:48573006 semapv:UnspecifiedMatching MONDO:0003069 suppurative lymphadenitis skos:exactMatch UMLS:C0392051 semapv:UnspecifiedMatching MONDO:0003069 suppurative lymphadenitis skos:exactMatch icd11.foundation:1183198544 Suppurative lymphadenitis semapv:UnspecifiedMatching MONDO:0003070 axillary lymphadenitis skos:exactMatch DOID:4640 axillary adenitis semapv:UnspecifiedMatching MONDO:0003070 axillary lymphadenitis skos:exactMatch MEDGEN:182522 semapv:UnspecifiedMatching MONDO:0003070 axillary lymphadenitis skos:exactMatch NCIT:C27333 Axillary Lymphadenitis semapv:UnspecifiedMatching MONDO:0003070 axillary lymphadenitis skos:exactMatch UMLS:C0919797 semapv:UnspecifiedMatching MONDO:0003072 retinal cancer skos:exactMatch DOID:4645 retinal cancer semapv:UnspecifiedMatching MONDO:0003072 retinal cancer skos:exactMatch EFO:0005716 semapv:UnspecifiedMatching MONDO:0003072 retinal cancer skos:exactMatch ICD10CM:C69.2 Malignant neoplasm of retina semapv:UnspecifiedMatching MONDO:0003072 retinal cancer skos:exactMatch MEDGEN:6192 semapv:UnspecifiedMatching MONDO:0003072 retinal cancer skos:exactMatch NCIT:C3216 Malignant Retinal Neoplasm semapv:UnspecifiedMatching MONDO:0003072 retinal cancer skos:exactMatch SCTID:363465007 semapv:UnspecifiedMatching MONDO:0003072 retinal cancer skos:exactMatch UMLS:C0024622 semapv:UnspecifiedMatching MONDO:0003072 retinal cancer skos:exactMatch icd11.foundation:1758820365 Malignant neoplasm of retina semapv:UnspecifiedMatching MONDO:0003072 retinal cancer skos:exactMatch mesh:D019572 semapv:UnspecifiedMatching MONDO:0003073 trilateral retinoblastoma skos:exactMatch DOID:4647 trilateral retinoblastoma semapv:UnspecifiedMatching MONDO:0003073 trilateral retinoblastoma skos:exactMatch MEDGEN:392856 semapv:UnspecifiedMatching MONDO:0003073 trilateral retinoblastoma skos:exactMatch NCIT:C7019 Trilateral Retinoblastoma semapv:UnspecifiedMatching MONDO:0003073 trilateral retinoblastoma skos:exactMatch UMLS:C2608045 semapv:UnspecifiedMatching MONDO:0003075 bilateral retinoblastoma skos:exactMatch DOID:4650 bilateral retinoblastoma semapv:UnspecifiedMatching MONDO:0003075 bilateral retinoblastoma skos:exactMatch MEDGEN:163163 semapv:UnspecifiedMatching MONDO:0003075 bilateral retinoblastoma skos:exactMatch NCIT:C8713 Bilateral Retinoblastoma semapv:UnspecifiedMatching MONDO:0003075 bilateral retinoblastoma skos:exactMatch UMLS:C0854914 semapv:UnspecifiedMatching MONDO:0003076 unilateral retinoblastoma skos:exactMatch DOID:4651 unilateral retinoblastoma semapv:UnspecifiedMatching MONDO:0003076 unilateral retinoblastoma skos:exactMatch MEDGEN:208929 semapv:UnspecifiedMatching MONDO:0003076 unilateral retinoblastoma skos:exactMatch NCIT:C8714 Unilateral Retinoblastoma semapv:UnspecifiedMatching MONDO:0003076 unilateral retinoblastoma skos:exactMatch UMLS:C0854915 semapv:UnspecifiedMatching MONDO:0003077 intraocular retinoblastoma skos:exactMatch DOID:4653 intraocular retinoblastoma semapv:UnspecifiedMatching MONDO:0003077 intraocular retinoblastoma skos:exactMatch MEDGEN:78874 semapv:UnspecifiedMatching MONDO:0003077 intraocular retinoblastoma skos:exactMatch NCIT:C7846 Intraocular Retinoblastoma semapv:UnspecifiedMatching MONDO:0003077 intraocular retinoblastoma skos:exactMatch UMLS:C0278717 semapv:UnspecifiedMatching MONDO:0003078 extraocular retinoblastoma skos:exactMatch DOID:4656 extraocular retinoblastoma semapv:UnspecifiedMatching MONDO:0003078 extraocular retinoblastoma skos:exactMatch MEDGEN:75861 semapv:UnspecifiedMatching MONDO:0003078 extraocular retinoblastoma skos:exactMatch NCIT:C7848 Extraocular Retinoblastoma semapv:UnspecifiedMatching MONDO:0003078 extraocular retinoblastoma skos:exactMatch UMLS:C0278719 semapv:UnspecifiedMatching MONDO:0003079 mastocytoma skos:exactMatch MEDGEN:6237 semapv:UnspecifiedMatching MONDO:0003079 mastocytoma skos:exactMatch NCIT:C9303 Mastocytoma semapv:UnspecifiedMatching MONDO:0003079 mastocytoma skos:exactMatch SCTID:404171008 semapv:UnspecifiedMatching MONDO:0003079 mastocytoma skos:exactMatch UMLS:C0024897 semapv:UnspecifiedMatching MONDO:0003079 mastocytoma skos:exactMatch mesh:D034801 semapv:UnspecifiedMatching MONDO:0003081 thalamic disorder skos:exactMatch DOID:4662 thalamic disease semapv:UnspecifiedMatching MONDO:0003081 thalamic disorder skos:exactMatch MEDGEN:52693 semapv:UnspecifiedMatching MONDO:0003081 thalamic disorder skos:exactMatch NCIT:C85186 Thalamic Disease semapv:UnspecifiedMatching MONDO:0003081 thalamic disorder skos:exactMatch UMLS:C0039726 semapv:UnspecifiedMatching MONDO:0003081 thalamic disorder skos:exactMatch mesh:D013786 semapv:UnspecifiedMatching MONDO:0003082 filamentary keratitis skos:exactMatch DOID:4664 filamentary keratitis semapv:UnspecifiedMatching MONDO:0003082 filamentary keratitis skos:exactMatch ICD10CM:H16.12 Filamentary keratitis semapv:UnspecifiedMatching MONDO:0003082 filamentary keratitis skos:exactMatch MEDGEN:509773 semapv:UnspecifiedMatching MONDO:0003082 filamentary keratitis skos:exactMatch SCTID:51286002 semapv:UnspecifiedMatching MONDO:0003082 filamentary keratitis skos:exactMatch UMLS:C0155077 semapv:UnspecifiedMatching MONDO:0003082 filamentary keratitis skos:exactMatch icd11.foundation:942510664 Filamentary keratitis semapv:UnspecifiedMatching MONDO:0003083 venous hemangioma skos:exactMatch DOID:467 venous hemangioma semapv:UnspecifiedMatching MONDO:0003083 venous hemangioma skos:exactMatch MEDGEN:90801 semapv:UnspecifiedMatching MONDO:0003083 venous hemangioma skos:exactMatch NCIT:C4296 Venous Hemangioma semapv:UnspecifiedMatching MONDO:0003083 venous hemangioma skos:exactMatch SCTID:403968005 semapv:UnspecifiedMatching MONDO:0003083 venous hemangioma skos:exactMatch UMLS:C0334532 semapv:UnspecifiedMatching MONDO:0003084 uremic neuropathy skos:exactMatch DOID:4675 uremic neuropathy semapv:UnspecifiedMatching MONDO:0003084 uremic neuropathy skos:exactMatch MEDGEN:75707 semapv:UnspecifiedMatching MONDO:0003084 uremic neuropathy skos:exactMatch NCIT:C27055 Uremic Neuropathy semapv:UnspecifiedMatching MONDO:0003084 uremic neuropathy skos:exactMatch SCTID:11659006 semapv:UnspecifiedMatching MONDO:0003084 uremic neuropathy skos:exactMatch UMLS:C0268708 semapv:UnspecifiedMatching MONDO:0003085 keratitis skos:exactMatch DOID:4677 keratitis semapv:UnspecifiedMatching MONDO:0003085 keratitis skos:exactMatch EFO:0009449 semapv:UnspecifiedMatching MONDO:0003085 keratitis skos:exactMatch ICD10CM:H16 Keratitis semapv:UnspecifiedMatching MONDO:0003085 keratitis skos:exactMatch ICD10WHO:H16 Keratitis semapv:UnspecifiedMatching MONDO:0003085 keratitis skos:exactMatch MEDGEN:44013 semapv:UnspecifiedMatching MONDO:0003085 keratitis skos:exactMatch NCIT:C26805 Keratitis semapv:UnspecifiedMatching MONDO:0003085 keratitis skos:exactMatch SCTID:5888003 semapv:UnspecifiedMatching MONDO:0003085 keratitis skos:exactMatch UMLS:C0022568 semapv:UnspecifiedMatching MONDO:0003085 keratitis skos:exactMatch mesh:D007634 semapv:UnspecifiedMatching MONDO:0003086 thymic mucoepidermoid carcinoma skos:exactMatch DOID:4678 thymus mucoepidermoid carcinoma semapv:UnspecifiedMatching MONDO:0003086 thymic mucoepidermoid carcinoma skos:exactMatch MEDGEN:277383 semapv:UnspecifiedMatching MONDO:0003086 thymic mucoepidermoid carcinoma skos:exactMatch NCIT:C6457 Thymus Mucoepidermoid Carcinoma semapv:UnspecifiedMatching MONDO:0003086 thymic mucoepidermoid carcinoma skos:exactMatch UMLS:C1334814 semapv:UnspecifiedMatching MONDO:0003087 mucoepidermoid breast carcinoma skos:exactMatch DOID:4679 breast mucoepidermoid carcinoma semapv:UnspecifiedMatching MONDO:0003087 mucoepidermoid breast carcinoma skos:exactMatch MEDGEN:233721 semapv:UnspecifiedMatching MONDO:0003087 mucoepidermoid breast carcinoma skos:exactMatch NCIT:C5166 Breast Mucoepidermoid Carcinoma semapv:UnspecifiedMatching MONDO:0003087 mucoepidermoid breast carcinoma skos:exactMatch UMLS:C1334813 semapv:UnspecifiedMatching MONDO:0003088 intramuscular hemangioma skos:exactMatch DOID:468 intramuscular hemangioma semapv:UnspecifiedMatching MONDO:0003088 intramuscular hemangioma skos:exactMatch MEDGEN:61450 semapv:UnspecifiedMatching MONDO:0003088 intramuscular hemangioma skos:exactMatch NCIT:C3699 Intramuscular Hemangioma semapv:UnspecifiedMatching MONDO:0003088 intramuscular hemangioma skos:exactMatch UMLS:C0205789 semapv:UnspecifiedMatching MONDO:0003089 extrahepatic bile duct mucoepidermoid carcinoma skos:exactMatch DOID:4681 bile duct mucoepidermoid carcinoma semapv:UnspecifiedMatching MONDO:0003089 extrahepatic bile duct mucoepidermoid carcinoma skos:exactMatch MEDGEN:272368 semapv:UnspecifiedMatching MONDO:0003089 extrahepatic bile duct mucoepidermoid carcinoma skos:exactMatch NCIT:C5862 Extrahepatic Bile Duct Mucoepidermoid Carcinoma semapv:UnspecifiedMatching MONDO:0003089 extrahepatic bile duct mucoepidermoid carcinoma skos:exactMatch UMLS:C1332552 semapv:UnspecifiedMatching MONDO:0003090 extrahepatic bile duct carcinoma skos:exactMatch DOID:4682 extrahepatic bile duct carcinoma semapv:UnspecifiedMatching MONDO:0003090 extrahepatic bile duct carcinoma skos:exactMatch MEDGEN:116036 semapv:UnspecifiedMatching MONDO:0003090 extrahepatic bile duct carcinoma skos:exactMatch NCIT:C3860 Extrahepatic Bile Duct Carcinoma semapv:UnspecifiedMatching MONDO:0003090 extrahepatic bile duct carcinoma skos:exactMatch SCTID:372101000 semapv:UnspecifiedMatching MONDO:0003090 extrahepatic bile duct carcinoma skos:exactMatch UMLS:C0238019 semapv:UnspecifiedMatching MONDO:0003091 cutaneous mucoepidermoid carcinoma skos:exactMatch DOID:4683 cutaneous mucoepidermoid carcinoma semapv:UnspecifiedMatching MONDO:0003091 cutaneous mucoepidermoid carcinoma skos:exactMatch MEDGEN:91072 semapv:UnspecifiedMatching MONDO:0003091 cutaneous mucoepidermoid carcinoma skos:exactMatch NCIT:C4472 Skin Mucoepidermoid Carcinoma semapv:UnspecifiedMatching MONDO:0003091 cutaneous mucoepidermoid carcinoma skos:exactMatch SCTID:254713002 semapv:UnspecifiedMatching MONDO:0003091 cutaneous mucoepidermoid carcinoma skos:exactMatch UMLS:C0346019 semapv:UnspecifiedMatching MONDO:0003092 lacrimal gland mucoepidermoid carcinoma skos:exactMatch DOID:4685 lacrimal gland mucoepidermoid carcinoma semapv:UnspecifiedMatching MONDO:0003092 lacrimal gland mucoepidermoid carcinoma skos:exactMatch MEDGEN:235248 semapv:UnspecifiedMatching MONDO:0003092 lacrimal gland mucoepidermoid carcinoma skos:exactMatch NCIT:C6091 Lacrimal Gland Mucoepidermoid Carcinoma semapv:UnspecifiedMatching MONDO:0003092 lacrimal gland mucoepidermoid carcinoma skos:exactMatch UMLS:C1334359 semapv:UnspecifiedMatching MONDO:0003093 mucoepidermoid esophageal carcinoma skos:exactMatch DOID:4686 mucoepidermoid esophageal carcinoma semapv:UnspecifiedMatching MONDO:0003093 mucoepidermoid esophageal carcinoma skos:exactMatch MEDGEN:234232 semapv:UnspecifiedMatching MONDO:0003093 mucoepidermoid esophageal carcinoma skos:exactMatch NCIT:C5343 Esophageal Mucoepidermoid Carcinoma semapv:UnspecifiedMatching MONDO:0003093 mucoepidermoid esophageal carcinoma skos:exactMatch UMLS:C1333461 semapv:UnspecifiedMatching MONDO:0003095 laryngeal mucoepidermoid carcinoma skos:exactMatch DOID:4688 laryngeal mucoepidermoid carcinoma semapv:UnspecifiedMatching MONDO:0003095 laryngeal mucoepidermoid carcinoma skos:exactMatch MEDGEN:272792 semapv:UnspecifiedMatching MONDO:0003095 laryngeal mucoepidermoid carcinoma skos:exactMatch NCIT:C9463 Laryngeal Mucoepidermoid Carcinoma semapv:UnspecifiedMatching MONDO:0003095 laryngeal mucoepidermoid carcinoma skos:exactMatch UMLS:C1334373 semapv:UnspecifiedMatching MONDO:0003096 deep hemangioma skos:exactMatch DOID:469 deep angioma semapv:UnspecifiedMatching MONDO:0003096 deep hemangioma skos:exactMatch MEDGEN:232421 semapv:UnspecifiedMatching MONDO:0003096 deep hemangioma skos:exactMatch NCIT:C6555 Deep Hemangioma semapv:UnspecifiedMatching MONDO:0003096 deep hemangioma skos:exactMatch UMLS:C1333265 semapv:UnspecifiedMatching MONDO:0003097 childhood mediastinal neurogenic neoplasm skos:exactMatch DOID:4690 childhood mediastinal neurogenic tumor semapv:UnspecifiedMatching MONDO:0003097 childhood mediastinal neurogenic neoplasm skos:exactMatch MEDGEN:234134 semapv:UnspecifiedMatching MONDO:0003097 childhood mediastinal neurogenic neoplasm skos:exactMatch NCIT:C5429 Childhood Mediastinal Neurogenic Neoplasm semapv:UnspecifiedMatching MONDO:0003097 childhood mediastinal neurogenic neoplasm skos:exactMatch UMLS:C1332981 semapv:UnspecifiedMatching MONDO:0003098 mediastinal neural neoplasm skos:exactMatch DOID:4691 malignant mediastinal neurogenic neoplasm semapv:UnspecifiedMatching MONDO:0003098 mediastinal neural neoplasm skos:exactMatch MEDGEN:277353 semapv:UnspecifiedMatching MONDO:0003098 mediastinal neural neoplasm skos:exactMatch NCIT:C6624 Mediastinal Neurogenic Neoplasm semapv:UnspecifiedMatching MONDO:0003098 mediastinal neural neoplasm skos:exactMatch UMLS:C1334672 semapv:UnspecifiedMatching MONDO:0003100 nerve plexus neoplasm skos:exactMatch DOID:4693 nerve plexus neoplasm semapv:UnspecifiedMatching MONDO:0003100 nerve plexus neoplasm skos:exactMatch MEDGEN:235366 semapv:UnspecifiedMatching MONDO:0003100 nerve plexus neoplasm skos:exactMatch NCIT:C5822 Nerve Plexus Neoplasm semapv:UnspecifiedMatching MONDO:0003100 nerve plexus neoplasm skos:exactMatch UMLS:C1334945 semapv:UnspecifiedMatching MONDO:0003103 nerve root neoplasm skos:exactMatch DOID:4698 nerve root neoplasm semapv:UnspecifiedMatching MONDO:0003103 nerve root neoplasm skos:exactMatch MEDGEN:233753 semapv:UnspecifiedMatching MONDO:0003103 nerve root neoplasm skos:exactMatch NCIT:C5119 Nerve Root Neoplasm semapv:UnspecifiedMatching MONDO:0003103 nerve root neoplasm skos:exactMatch UMLS:C1334946 semapv:UnspecifiedMatching MONDO:0003104 epicardium cancer skos:exactMatch DOID:4699 epicardium cancer semapv:UnspecifiedMatching MONDO:0003104 epicardium cancer skos:exactMatch MEDGEN:388560 semapv:UnspecifiedMatching MONDO:0003104 epicardium cancer skos:exactMatch NCIT:C4568 Malignant Epicardial Neoplasm semapv:UnspecifiedMatching MONDO:0003104 epicardium cancer skos:exactMatch UMLS:C2607932 semapv:UnspecifiedMatching MONDO:0003105 prostate disorder skos:exactMatch DOID:47 prostate disease semapv:UnspecifiedMatching MONDO:0003105 prostate disorder skos:exactMatch EFO:0009602 semapv:UnspecifiedMatching MONDO:0003105 prostate disorder skos:exactMatch MEDGEN:10964 semapv:UnspecifiedMatching MONDO:0003105 prostate disorder skos:exactMatch NCIT:C26865 Prostate Disorder semapv:UnspecifiedMatching MONDO:0003105 prostate disorder skos:exactMatch SCTID:30281009 semapv:UnspecifiedMatching MONDO:0003105 prostate disorder skos:exactMatch UMLS:C0033575 semapv:UnspecifiedMatching MONDO:0003105 prostate disorder skos:exactMatch mesh:D011469 semapv:UnspecifiedMatching MONDO:0003107 infratentorial cancer skos:exactMatch DOID:4706 infratentorial cancer semapv:UnspecifiedMatching MONDO:0003107 infratentorial cancer skos:exactMatch MEDGEN:199689 semapv:UnspecifiedMatching MONDO:0003107 infratentorial cancer skos:exactMatch NCIT:C4966 Malignant Infratentorial Neoplasm semapv:UnspecifiedMatching MONDO:0003107 infratentorial cancer skos:exactMatch UMLS:C0751593 semapv:UnspecifiedMatching MONDO:0003107 infratentorial cancer skos:exactMatch mesh:D015192 semapv:UnspecifiedMatching MONDO:0003108 cervicomedullary junction neoplasm skos:exactMatch DOID:4707 cervicomedullary junction neoplasm semapv:UnspecifiedMatching MONDO:0003108 cervicomedullary junction neoplasm skos:exactMatch MEDGEN:272453 semapv:UnspecifiedMatching MONDO:0003108 cervicomedullary junction neoplasm skos:exactMatch NCIT:C5423 Cervicomedullary Junction Neoplasm semapv:UnspecifiedMatching MONDO:0003108 cervicomedullary junction neoplasm skos:exactMatch UMLS:C1332923 semapv:UnspecifiedMatching MONDO:0003109 foramen magnum meningioma skos:exactMatch DOID:4708 foramen magnum meningioma semapv:UnspecifiedMatching MONDO:0003109 foramen magnum meningioma skos:exactMatch MEDGEN:232512 semapv:UnspecifiedMatching MONDO:0003109 foramen magnum meningioma skos:exactMatch NCIT:C5280 Foramen Magnum Meningioma semapv:UnspecifiedMatching MONDO:0003109 foramen magnum meningioma skos:exactMatch UMLS:C1333630 semapv:UnspecifiedMatching MONDO:0003110 skin hemangioma skos:exactMatch DOID:471 skin hemangioma semapv:UnspecifiedMatching MONDO:0003110 skin hemangioma skos:exactMatch MEDGEN:151951 semapv:UnspecifiedMatching MONDO:0003110 skin hemangioma skos:exactMatch NCIT:C4905 Skin Hemangioma semapv:UnspecifiedMatching MONDO:0003110 skin hemangioma skos:exactMatch SCTID:93471006 semapv:UnspecifiedMatching MONDO:0003110 skin hemangioma skos:exactMatch UMLS:C0687140 semapv:UnspecifiedMatching MONDO:0003111 gastric neuroendocrine neoplasm skos:exactMatch DOID:4715 gastric neuroendocrine neoplasm semapv:UnspecifiedMatching MONDO:0003111 gastric neuroendocrine neoplasm skos:exactMatch MEDGEN:232548 semapv:UnspecifiedMatching MONDO:0003111 gastric neuroendocrine neoplasm skos:exactMatch NCIT:C5696 Gastric Neuroendocrine Neoplasm semapv:UnspecifiedMatching MONDO:0003111 gastric neuroendocrine neoplasm skos:exactMatch Orphanet:100075 Neuroendocrine tumor of stomach semapv:UnspecifiedMatching MONDO:0003111 gastric neuroendocrine neoplasm skos:exactMatch SCTID:721194008 semapv:UnspecifiedMatching MONDO:0003111 gastric neuroendocrine neoplasm skos:exactMatch UMLS:C1333783 semapv:UnspecifiedMatching MONDO:0003112 malignant gastric germ cell tumor skos:exactMatch DOID:4716 malignant gastric germ cell tumor semapv:UnspecifiedMatching MONDO:0003112 malignant gastric germ cell tumor skos:exactMatch MEDGEN:233663 semapv:UnspecifiedMatching MONDO:0003112 malignant gastric germ cell tumor skos:exactMatch NCIT:C5486 Malignant Gastric Germ Cell Tumor semapv:UnspecifiedMatching MONDO:0003112 malignant gastric germ cell tumor skos:exactMatch UMLS:C1334584 semapv:UnspecifiedMatching MONDO:0003113 extragonadal germ cell cancer skos:exactMatch DOID:4717 extragonadal germ cell cancer semapv:UnspecifiedMatching MONDO:0003113 extragonadal germ cell cancer skos:exactMatch MEDGEN:235292 semapv:UnspecifiedMatching MONDO:0003113 extragonadal germ cell cancer skos:exactMatch NCIT:C8881 Malignant Extragonadal Germ Cell Tumor semapv:UnspecifiedMatching MONDO:0003113 extragonadal germ cell cancer skos:exactMatch UMLS:C1334581 semapv:UnspecifiedMatching MONDO:0003115 subglottic hemangioma skos:exactMatch DOID:472 subglottic angioma semapv:UnspecifiedMatching MONDO:0003115 subglottic hemangioma skos:exactMatch MEDGEN:234907 semapv:UnspecifiedMatching MONDO:0003115 subglottic hemangioma skos:exactMatch NCIT:C6026 Subglottic Hemangioma semapv:UnspecifiedMatching MONDO:0003115 subglottic hemangioma skos:exactMatch UMLS:C1336518 semapv:UnspecifiedMatching MONDO:0003117 somatoform disorder skos:exactMatch DOID:4737 somatoform disorder semapv:UnspecifiedMatching MONDO:0003117 somatoform disorder skos:exactMatch EFO:0009687 semapv:UnspecifiedMatching MONDO:0003117 somatoform disorder skos:exactMatch MEDGEN:20835 semapv:UnspecifiedMatching MONDO:0003117 somatoform disorder skos:exactMatch NCIT:C34956 Somatoform Disorder semapv:UnspecifiedMatching MONDO:0003117 somatoform disorder skos:exactMatch SCTID:31297008 semapv:UnspecifiedMatching MONDO:0003117 somatoform disorder skos:exactMatch UMLS:C0037650 semapv:UnspecifiedMatching MONDO:0003117 somatoform disorder skos:exactMatch mesh:D013001 semapv:UnspecifiedMatching MONDO:0003118 testicular Brenner tumor skos:exactMatch DOID:4739 testicular Brenner tumor semapv:UnspecifiedMatching MONDO:0003118 testicular Brenner tumor skos:exactMatch MEDGEN:273631 semapv:UnspecifiedMatching MONDO:0003118 testicular Brenner tumor skos:exactMatch NCIT:C39953 Paratesticular Brenner Tumor semapv:UnspecifiedMatching MONDO:0003118 testicular Brenner tumor skos:exactMatch UMLS:C1515281 semapv:UnspecifiedMatching MONDO:0003120 mixed testicular germ cell cancer skos:exactMatch DOID:4743 mixed testicular germ cell tumor semapv:UnspecifiedMatching MONDO:0003120 mixed testicular germ cell cancer skos:exactMatch MEDGEN:237005 semapv:UnspecifiedMatching MONDO:0003120 mixed testicular germ cell cancer skos:exactMatch NCIT:C6347 Testicular Mixed Germ Cell Tumor semapv:UnspecifiedMatching MONDO:0003120 mixed testicular germ cell cancer skos:exactMatch UMLS:C1336720 semapv:UnspecifiedMatching MONDO:0003121 middle cranial fossa meningioma skos:exactMatch DOID:4749 middle cranial fossa meningioma semapv:UnspecifiedMatching MONDO:0003121 middle cranial fossa meningioma skos:exactMatch MEDGEN:277369 semapv:UnspecifiedMatching MONDO:0003121 middle cranial fossa meningioma skos:exactMatch NCIT:C5586 Middle Cranial Fossa Meningioma semapv:UnspecifiedMatching MONDO:0003121 middle cranial fossa meningioma skos:exactMatch UMLS:C1334757 semapv:UnspecifiedMatching MONDO:0003122 striatonigral degeneration skos:exactMatch DOID:4751 striatonigral degeneration semapv:UnspecifiedMatching MONDO:0003122 striatonigral degeneration skos:exactMatch ICD10CM:G23.2 Striatonigral degeneration semapv:UnspecifiedMatching MONDO:0003122 striatonigral degeneration skos:exactMatch MEDGEN:124366 semapv:UnspecifiedMatching MONDO:0003122 striatonigral degeneration skos:exactMatch NCIT:C125695 Striatonigral Degeneration semapv:UnspecifiedMatching MONDO:0003122 striatonigral degeneration skos:exactMatch OMIMPS:271930 Striatonigral degeneration semapv:UnspecifiedMatching MONDO:0003122 striatonigral degeneration skos:exactMatch SCTID:29618004 semapv:UnspecifiedMatching MONDO:0003122 striatonigral degeneration skos:exactMatch UMLS:C0270733 semapv:UnspecifiedMatching MONDO:0003122 striatonigral degeneration skos:exactMatch icd11.foundation:195535779 Striatonigral degeneration semapv:UnspecifiedMatching MONDO:0003122 striatonigral degeneration skos:exactMatch mesh:D020955 semapv:UnspecifiedMatching MONDO:0003124 testicular Leydig cell tumor skos:exactMatch DOID:4756 testicular Leydig cell tumor semapv:UnspecifiedMatching MONDO:0003124 testicular Leydig cell tumor skos:exactMatch MEDGEN:163584 semapv:UnspecifiedMatching MONDO:0003124 testicular Leydig cell tumor skos:exactMatch NCIT:C6356 Testicular Leydig Cell Tumor semapv:UnspecifiedMatching MONDO:0003124 testicular Leydig cell tumor skos:exactMatch SCTID:67871000119105 semapv:UnspecifiedMatching MONDO:0003124 testicular Leydig cell tumor skos:exactMatch UMLS:C0863027 semapv:UnspecifiedMatching MONDO:0003125 testicular sex cord-stromal neoplasm skos:exactMatch DOID:4757 testicular sex cord-stromal neoplasm semapv:UnspecifiedMatching MONDO:0003125 testicular sex cord-stromal neoplasm skos:exactMatch MEDGEN:825921 semapv:UnspecifiedMatching MONDO:0003125 testicular sex cord-stromal neoplasm skos:exactMatch NCIT:C6358 Testicular Sex Cord-Stromal Tumor semapv:UnspecifiedMatching MONDO:0003125 testicular sex cord-stromal neoplasm skos:exactMatch Orphanet:363489 Sex cord-stromal tumor of testis semapv:UnspecifiedMatching MONDO:0003125 testicular sex cord-stromal neoplasm skos:exactMatch SCTID:702406000 semapv:UnspecifiedMatching MONDO:0003125 testicular sex cord-stromal neoplasm skos:exactMatch UMLS:C3840076 semapv:UnspecifiedMatching MONDO:0003126 breast hemangioma skos:exactMatch DOID:476 breast hemangioma semapv:UnspecifiedMatching MONDO:0003126 breast hemangioma skos:exactMatch MEDGEN:163122 semapv:UnspecifiedMatching MONDO:0003126 breast hemangioma skos:exactMatch NCIT:C5353 Breast Hemangioma semapv:UnspecifiedMatching MONDO:0003126 breast hemangioma skos:exactMatch UMLS:C0853715 semapv:UnspecifiedMatching MONDO:0003128 classic pulmonary blastoma skos:exactMatch DOID:4767 classic pulmonary blastoma semapv:UnspecifiedMatching MONDO:0003128 classic pulmonary blastoma skos:exactMatch MEDGEN:231445 semapv:UnspecifiedMatching MONDO:0003128 classic pulmonary blastoma skos:exactMatch NCIT:C36054 Biphasic Pulmonary Blastoma semapv:UnspecifiedMatching MONDO:0003128 classic pulmonary blastoma skos:exactMatch UMLS:C1332556 semapv:UnspecifiedMatching MONDO:0003129 epithelial predominant pulmonary blastoma skos:exactMatch DOID:4768 epithelial predominant pulmonary blastoma semapv:UnspecifiedMatching MONDO:0003129 epithelial predominant pulmonary blastoma skos:exactMatch MEDGEN:234222 semapv:UnspecifiedMatching MONDO:0003129 epithelial predominant pulmonary blastoma skos:exactMatch NCIT:C36053 Epithelial Predominant Pulmonary Blastoma semapv:UnspecifiedMatching MONDO:0003129 epithelial predominant pulmonary blastoma skos:exactMatch UMLS:C1333420 semapv:UnspecifiedMatching MONDO:0003130 mesoblastic nephroma skos:exactMatch EFO:0007365 semapv:UnspecifiedMatching MONDO:0003130 mesoblastic nephroma skos:exactMatch MEDGEN:64620 semapv:UnspecifiedMatching MONDO:0003130 mesoblastic nephroma skos:exactMatch SCTID:307604008 semapv:UnspecifiedMatching MONDO:0003130 mesoblastic nephroma skos:exactMatch UMLS:C0206628 semapv:UnspecifiedMatching MONDO:0003130 mesoblastic nephroma skos:exactMatch mesh:D018201 semapv:UnspecifiedMatching MONDO:0003133 exudative glomerulonephritis skos:exactMatch DOID:4777 exudative glomerulonephritis semapv:UnspecifiedMatching MONDO:0003133 exudative glomerulonephritis skos:exactMatch MEDGEN:154269 semapv:UnspecifiedMatching MONDO:0003133 exudative glomerulonephritis skos:exactMatch NCIT:C35706 Exudative Glomerulonephritis semapv:UnspecifiedMatching MONDO:0003133 exudative glomerulonephritis skos:exactMatch UMLS:C0546345 semapv:UnspecifiedMatching MONDO:0003134 proliferative glomerulonephritis skos:exactMatch DOID:4778 proliferative glomerulonephritis semapv:UnspecifiedMatching MONDO:0003134 proliferative glomerulonephritis skos:exactMatch MEDGEN:68617 semapv:UnspecifiedMatching MONDO:0003134 proliferative glomerulonephritis skos:exactMatch NCIT:C35281 Proliferative Glomerulonephritis semapv:UnspecifiedMatching MONDO:0003134 proliferative glomerulonephritis skos:exactMatch SCTID:441815006 semapv:UnspecifiedMatching MONDO:0003134 proliferative glomerulonephritis skos:exactMatch UMLS:C0235618 semapv:UnspecifiedMatching MONDO:0003135 focal embolic glomerulonephritis skos:exactMatch DOID:4779 focal embolic glomerulonephritis semapv:UnspecifiedMatching MONDO:0003135 focal embolic glomerulonephritis skos:exactMatch MEDGEN:65950 semapv:UnspecifiedMatching MONDO:0003135 focal embolic glomerulonephritis skos:exactMatch NCIT:C35707 Focal Embolic Glomerulonephritis semapv:UnspecifiedMatching MONDO:0003135 focal embolic glomerulonephritis skos:exactMatch UMLS:C0238143 semapv:UnspecifiedMatching MONDO:0003136 anti-basement membrane glomerulonephritis skos:exactMatch DOID:4780 anti-basement membrane glomerulonephritis semapv:UnspecifiedMatching MONDO:0003136 anti-basement membrane glomerulonephritis skos:exactMatch MEDGEN:231383 semapv:UnspecifiedMatching MONDO:0003136 anti-basement membrane glomerulonephritis skos:exactMatch NCIT:C35798 Anti-Basement Membrane Glomerulonephritis semapv:UnspecifiedMatching MONDO:0003136 anti-basement membrane glomerulonephritis skos:exactMatch UMLS:C1332309 semapv:UnspecifiedMatching MONDO:0003137 diffuse glomerulonephritis skos:exactMatch DOID:4781 diffuse glomerulonephritis semapv:UnspecifiedMatching MONDO:0003137 diffuse glomerulonephritis skos:exactMatch MEDGEN:163563 semapv:UnspecifiedMatching MONDO:0003137 diffuse glomerulonephritis skos:exactMatch NCIT:C35799 Diffuse Glomerulonephritis semapv:UnspecifiedMatching MONDO:0003137 diffuse glomerulonephritis skos:exactMatch UMLS:C0859036 semapv:UnspecifiedMatching MONDO:0003138 subacute glomerulonephritis skos:exactMatch DOID:4782 subacute glomerulonephritis semapv:UnspecifiedMatching MONDO:0003138 subacute glomerulonephritis skos:exactMatch MEDGEN:266070 semapv:UnspecifiedMatching MONDO:0003138 subacute glomerulonephritis skos:exactMatch NCIT:C35801 Subacute Glomerulonephritis semapv:UnspecifiedMatching MONDO:0003138 subacute glomerulonephritis skos:exactMatch SCTID:123609007 semapv:UnspecifiedMatching MONDO:0003138 subacute glomerulonephritis skos:exactMatch UMLS:C1263744 semapv:UnspecifiedMatching MONDO:0003139 mesangial proliferative glomerulonephritis skos:exactMatch DOID:4783 mesangial proliferative glomerulonephritis semapv:UnspecifiedMatching MONDO:0003139 mesangial proliferative glomerulonephritis skos:exactMatch MEDGEN:66364 semapv:UnspecifiedMatching MONDO:0003139 mesangial proliferative glomerulonephritis skos:exactMatch NCIT:C35445 Mesangial Proliferative Glomerulonephritis semapv:UnspecifiedMatching MONDO:0003139 mesangial proliferative glomerulonephritis skos:exactMatch SCTID:35546006 semapv:UnspecifiedMatching MONDO:0003139 mesangial proliferative glomerulonephritis skos:exactMatch UMLS:C0221238 semapv:UnspecifiedMatching MONDO:0003140 immune-complex glomerulonephritis skos:exactMatch DOID:4784 immune-complex glomerulonephritis semapv:UnspecifiedMatching MONDO:0003140 immune-complex glomerulonephritis skos:exactMatch MEDGEN:148168 semapv:UnspecifiedMatching MONDO:0003140 immune-complex glomerulonephritis skos:exactMatch NCIT:C35800 Immune Complex Glomerulonephritis semapv:UnspecifiedMatching MONDO:0003140 immune-complex glomerulonephritis skos:exactMatch SCTID:123752003 semapv:UnspecifiedMatching MONDO:0003140 immune-complex glomerulonephritis skos:exactMatch UMLS:C0744421 semapv:UnspecifiedMatching MONDO:0003141 cerebellopontine angle embryonal tumor skos:exactMatch DOID:4787 cerebellopontine angle primitive neuroectodermal tumor semapv:UnspecifiedMatching MONDO:0003141 cerebellopontine angle embryonal tumor skos:exactMatch MEDGEN:232045 semapv:UnspecifiedMatching MONDO:0003141 cerebellopontine angle embryonal tumor skos:exactMatch NCIT:C5436 Cerebellopontine Angle Embryonal Tumor, Not Otherwise Specified semapv:UnspecifiedMatching MONDO:0003141 cerebellopontine angle embryonal tumor skos:exactMatch UMLS:C1332904 semapv:UnspecifiedMatching MONDO:0003142 intracranial primitive neuroectodermal tumor skos:exactMatch DOID:4788 intracranial primitive neuroectodermal tumor semapv:UnspecifiedMatching MONDO:0003142 intracranial primitive neuroectodermal tumor skos:exactMatch MEDGEN:577349 semapv:UnspecifiedMatching MONDO:0003142 intracranial primitive neuroectodermal tumor skos:exactMatch NCIT:C5817 Brain Embryonal Tumor, Not Otherwise Specified semapv:UnspecifiedMatching MONDO:0003142 intracranial primitive neuroectodermal tumor skos:exactMatch UMLS:C0346292 semapv:UnspecifiedMatching MONDO:0003143 angiokeratoma skos:exactMatch DOID:479 angiokeratoma semapv:UnspecifiedMatching MONDO:0003143 angiokeratoma skos:exactMatch MEDGEN:1542 semapv:UnspecifiedMatching MONDO:0003143 angiokeratoma skos:exactMatch NCIT:C4488 Angiokeratoma semapv:UnspecifiedMatching MONDO:0003143 angiokeratoma skos:exactMatch SCTID:254788004 semapv:UnspecifiedMatching MONDO:0003143 angiokeratoma skos:exactMatch UMLS:C0002985 semapv:UnspecifiedMatching MONDO:0003143 angiokeratoma skos:exactMatch icd11.foundation:533651286 Angiokeratoma semapv:UnspecifiedMatching MONDO:0003143 angiokeratoma skos:exactMatch mesh:D000794 semapv:UnspecifiedMatching MONDO:0003144 medulloepithelioma skos:exactMatch DOID:4790 medulloepithelioma semapv:UnspecifiedMatching MONDO:0003144 medulloepithelioma skos:exactMatch MEDGEN:1702218 semapv:UnspecifiedMatching MONDO:0003144 medulloepithelioma skos:exactMatch NCIT:C4327 Central Nervous System Medulloepithelioma semapv:UnspecifiedMatching MONDO:0003144 medulloepithelioma skos:exactMatch SCTID:715903004 semapv:UnspecifiedMatching MONDO:0003144 medulloepithelioma skos:exactMatch UMLS:C5231013 semapv:UnspecifiedMatching MONDO:0003144 medulloepithelioma skos:exactMatch icd11.foundation:1078680756 Medulloepithelioma semapv:UnspecifiedMatching MONDO:0003145 supratentorial primitive neuroectodermal tumor skos:exactMatch DOID:4791 supratentorial primitive neuroectodermal tumor semapv:UnspecifiedMatching MONDO:0003145 supratentorial primitive neuroectodermal tumor skos:exactMatch MEDGEN:234914 semapv:UnspecifiedMatching MONDO:0003145 supratentorial primitive neuroectodermal tumor skos:exactMatch NCIT:C6968 Supratentorial Embryonal Tumor, Not Otherwise Specified semapv:UnspecifiedMatching MONDO:0003145 supratentorial primitive neuroectodermal tumor skos:exactMatch SCTID:699318007 semapv:UnspecifiedMatching MONDO:0003145 supratentorial primitive neuroectodermal tumor skos:exactMatch UMLS:C1336538 semapv:UnspecifiedMatching MONDO:0003147 space motion sickness skos:exactMatch DOID:4796 space motion sickness semapv:UnspecifiedMatching MONDO:0003147 space motion sickness skos:exactMatch MEDGEN:116642 semapv:UnspecifiedMatching MONDO:0003147 space motion sickness skos:exactMatch UMLS:C0242700 semapv:UnspecifiedMatching MONDO:0003147 space motion sickness skos:exactMatch mesh:D018489 semapv:UnspecifiedMatching MONDO:0003150 male reproductive system disorder skos:exactMatch DOID:48 male reproductive system disease semapv:UnspecifiedMatching MONDO:0003150 male reproductive system disorder skos:exactMatch EFO:0009555 semapv:UnspecifiedMatching MONDO:0003150 male reproductive system disorder skos:exactMatch ICD10CM:N40-N53 Diseases of male genital organs (N40-N53) semapv:UnspecifiedMatching MONDO:0003150 male reproductive system disorder skos:exactMatch ICD10WHO:N40-N51 Diseases of male genital organs semapv:UnspecifiedMatching MONDO:0003150 male reproductive system disorder skos:exactMatch MEDGEN:66734 semapv:UnspecifiedMatching MONDO:0003150 male reproductive system disorder skos:exactMatch NCIT:C27019 Male Reproductive System Disorder semapv:UnspecifiedMatching MONDO:0003150 male reproductive system disorder skos:exactMatch SCTID:363194005 semapv:UnspecifiedMatching MONDO:0003150 male reproductive system disorder skos:exactMatch UMLS:C0236099 semapv:UnspecifiedMatching MONDO:0003150 male reproductive system disorder skos:exactMatch mesh:D005832 semapv:UnspecifiedMatching MONDO:0003152 adult brainstem gliosarcoma skos:exactMatch DOID:4812 adult brainstem gliosarcoma semapv:UnspecifiedMatching MONDO:0003152 adult brainstem gliosarcoma skos:exactMatch MEDGEN:277992 semapv:UnspecifiedMatching MONDO:0003152 adult brainstem gliosarcoma skos:exactMatch NCIT:C9370 Adult Brain Stem Gliosarcoma semapv:UnspecifiedMatching MONDO:0003152 adult brainstem gliosarcoma skos:exactMatch UMLS:C1377914 semapv:UnspecifiedMatching MONDO:0003153 adult brainstem glioma skos:exactMatch DOID:4813 adult brain stem glioma semapv:UnspecifiedMatching MONDO:0003153 adult brainstem glioma skos:exactMatch MEDGEN:124526 semapv:UnspecifiedMatching MONDO:0003153 adult brainstem glioma skos:exactMatch NCIT:C9091 Adult Brain Stem Glioma semapv:UnspecifiedMatching MONDO:0003153 adult brainstem glioma skos:exactMatch UMLS:C0278873 semapv:UnspecifiedMatching MONDO:0003154 hemangioma of peripheral nerve skos:exactMatch DOID:482 hemangioma of peripheral nerve semapv:UnspecifiedMatching MONDO:0003154 hemangioma of peripheral nerve skos:exactMatch MEDGEN:232595 semapv:UnspecifiedMatching MONDO:0003154 hemangioma of peripheral nerve skos:exactMatch NCIT:C27507 Peripheral Nerve Hemangioma semapv:UnspecifiedMatching MONDO:0003154 hemangioma of peripheral nerve skos:exactMatch UMLS:C1333956 semapv:UnspecifiedMatching MONDO:0003155 cavernous hemangioma skos:exactMatch DOID:483 cavernous hemangioma semapv:UnspecifiedMatching MONDO:0003155 cavernous hemangioma skos:exactMatch EFO:1000151 semapv:UnspecifiedMatching MONDO:0003155 cavernous hemangioma skos:exactMatch MEDGEN:9184 semapv:UnspecifiedMatching MONDO:0003155 cavernous hemangioma skos:exactMatch NCIT:C3086 Cavernous Hemangioma semapv:UnspecifiedMatching MONDO:0003155 cavernous hemangioma skos:exactMatch SCTID:416824008 semapv:UnspecifiedMatching MONDO:0003155 cavernous hemangioma skos:exactMatch UMLS:C0018920 semapv:UnspecifiedMatching MONDO:0003155 cavernous hemangioma skos:exactMatch mesh:D006392 semapv:UnspecifiedMatching MONDO:0003157 disappearing bone disease skos:exactMatch DOID:4837 Gorham's disease semapv:UnspecifiedMatching MONDO:0003157 disappearing bone disease skos:exactMatch MEDGEN:45247 semapv:UnspecifiedMatching MONDO:0003157 disappearing bone disease skos:exactMatch SCTID:240161003 semapv:UnspecifiedMatching MONDO:0003157 disappearing bone disease skos:exactMatch UMLS:C0029436 semapv:UnspecifiedMatching MONDO:0003158 malignant myoepithelioma skos:exactMatch DOID:4838 myoepithelial carcinoma semapv:UnspecifiedMatching MONDO:0003158 malignant myoepithelioma skos:exactMatch MEDGEN:90822 semapv:UnspecifiedMatching MONDO:0003158 malignant myoepithelioma skos:exactMatch NCIT:C7596 Malignant Myoepithelioma semapv:UnspecifiedMatching MONDO:0003158 malignant myoepithelioma skos:exactMatch UMLS:C0334699 semapv:UnspecifiedMatching MONDO:0003159 vascular hemostatic disease skos:exactMatch DOID:484 vascular hemostatic disease semapv:UnspecifiedMatching MONDO:0003159 vascular hemostatic disease skos:exactMatch MEDGEN:154721 semapv:UnspecifiedMatching MONDO:0003159 vascular hemostatic disease skos:exactMatch SCTID:21112004 semapv:UnspecifiedMatching MONDO:0003159 vascular hemostatic disease skos:exactMatch UMLS:C0600502 semapv:UnspecifiedMatching MONDO:0003159 vascular hemostatic disease skos:exactMatch mesh:D020141 semapv:UnspecifiedMatching MONDO:0003163 cauda equina intradural extramedullary astrocytoma skos:exactMatch DOID:4846 cauda equina intradural extramedullary astrocytoma semapv:UnspecifiedMatching MONDO:0003163 cauda equina intradural extramedullary astrocytoma skos:exactMatch MEDGEN:235225 semapv:UnspecifiedMatching MONDO:0003163 cauda equina intradural extramedullary astrocytoma skos:exactMatch NCIT:C5408 Cauda Equina Astrocytoma semapv:UnspecifiedMatching MONDO:0003163 cauda equina intradural extramedullary astrocytoma skos:exactMatch UMLS:C1334254 semapv:UnspecifiedMatching MONDO:0003164 cauda equina neoplasm skos:exactMatch DOID:4847 cauda equina neoplasm semapv:UnspecifiedMatching MONDO:0003164 cauda equina neoplasm skos:exactMatch MEDGEN:220390 semapv:UnspecifiedMatching MONDO:0003164 cauda equina neoplasm skos:exactMatch NCIT:C5479 Cauda Equina Neoplasm semapv:UnspecifiedMatching MONDO:0003164 cauda equina neoplasm skos:exactMatch SCTID:126963001 semapv:UnspecifiedMatching MONDO:0003164 cauda equina neoplasm skos:exactMatch UMLS:C1263892 semapv:UnspecifiedMatching MONDO:0003165 cerebellar astrocytoma skos:exactMatch DOID:4848 cerebellar astrocytoma semapv:UnspecifiedMatching MONDO:0003165 cerebellar astrocytoma skos:exactMatch MEDGEN:196631 semapv:UnspecifiedMatching MONDO:0003165 cerebellar astrocytoma skos:exactMatch NCIT:C9475 Cerebellar Astrocytoma semapv:UnspecifiedMatching MONDO:0003165 cerebellar astrocytoma skos:exactMatch UMLS:C0740480 semapv:UnspecifiedMatching MONDO:0003168 cerebellar pilocytic astrocytoma skos:exactMatch DOID:4853 pilocytic astrocytoma of cerebellum semapv:UnspecifiedMatching MONDO:0003168 cerebellar pilocytic astrocytoma skos:exactMatch MEDGEN:91158 semapv:UnspecifiedMatching MONDO:0003168 cerebellar pilocytic astrocytoma skos:exactMatch NCIT:C6809 Cerebellar Pilocytic Astrocytoma semapv:UnspecifiedMatching MONDO:0003168 cerebellar pilocytic astrocytoma skos:exactMatch SCTID:277507004 semapv:UnspecifiedMatching MONDO:0003168 cerebellar pilocytic astrocytoma skos:exactMatch UMLS:C0349620 semapv:UnspecifiedMatching MONDO:0003169 diencephalic astrocytomas skos:exactMatch DOID:4855 diencephalic astrocytoma semapv:UnspecifiedMatching MONDO:0003169 diencephalic astrocytomas skos:exactMatch MEDGEN:272542 semapv:UnspecifiedMatching MONDO:0003169 diencephalic astrocytomas skos:exactMatch NCIT:C5128 Diencephalic Astrocytoma semapv:UnspecifiedMatching MONDO:0003169 diencephalic astrocytomas skos:exactMatch UMLS:C1333284 semapv:UnspecifiedMatching MONDO:0003170 gliofibroma skos:exactMatch DOID:4856 gliofibroma semapv:UnspecifiedMatching MONDO:0003170 gliofibroma skos:exactMatch MEDGEN:226850 semapv:UnspecifiedMatching MONDO:0003170 gliofibroma skos:exactMatch NCIT:C5419 Gliofibroma semapv:UnspecifiedMatching MONDO:0003170 gliofibroma skos:exactMatch UMLS:C1266178 semapv:UnspecifiedMatching MONDO:0003171 pineal gland astrocytoma skos:exactMatch DOID:4858 pineal gland astrocytoma semapv:UnspecifiedMatching MONDO:0003171 pineal gland astrocytoma skos:exactMatch MEDGEN:83711 semapv:UnspecifiedMatching MONDO:0003171 pineal gland astrocytoma skos:exactMatch NCIT:C8274 Pineal Gland Astrocytoma semapv:UnspecifiedMatching MONDO:0003171 pineal gland astrocytoma skos:exactMatch UMLS:C0280795 semapv:UnspecifiedMatching MONDO:0003172 glomeruloid hemangioma skos:exactMatch DOID:486 glomeruloid hemangioma semapv:UnspecifiedMatching MONDO:0003172 glomeruloid hemangioma skos:exactMatch MEDGEN:224917 semapv:UnspecifiedMatching MONDO:0003172 glomeruloid hemangioma skos:exactMatch NCIT:C27505 Glomeruloid Hemangioma semapv:UnspecifiedMatching MONDO:0003172 glomeruloid hemangioma skos:exactMatch SCTID:403976007 semapv:UnspecifiedMatching MONDO:0003172 glomeruloid hemangioma skos:exactMatch UMLS:C1304511 semapv:UnspecifiedMatching MONDO:0003173 brain stem astrocytic neoplasm skos:exactMatch DOID:4860 brain stem astrocytic neoplasm semapv:UnspecifiedMatching MONDO:0003173 brain stem astrocytic neoplasm skos:exactMatch MEDGEN:231458 semapv:UnspecifiedMatching MONDO:0003173 brain stem astrocytic neoplasm skos:exactMatch NCIT:C7445 Brain Stem Astrocytoma semapv:UnspecifiedMatching MONDO:0003173 brain stem astrocytic neoplasm skos:exactMatch SCTID:107581000119103 semapv:UnspecifiedMatching MONDO:0003173 brain stem astrocytic neoplasm skos:exactMatch UMLS:C1332608 semapv:UnspecifiedMatching MONDO:0003174 spinal cord astrocytoma skos:exactMatch DOID:4863 spinal cord astrocytoma semapv:UnspecifiedMatching MONDO:0003174 spinal cord astrocytoma skos:exactMatch EFO:1000544 semapv:UnspecifiedMatching MONDO:0003174 spinal cord astrocytoma skos:exactMatch MEDGEN:91152 semapv:UnspecifiedMatching MONDO:0003174 spinal cord astrocytoma skos:exactMatch NCIT:C4641 Spinal Cord Astrocytoma semapv:UnspecifiedMatching MONDO:0003174 spinal cord astrocytoma skos:exactMatch SCTID:254948003 semapv:UnspecifiedMatching MONDO:0003174 spinal cord astrocytoma skos:exactMatch UMLS:C0349540 semapv:UnspecifiedMatching MONDO:0003175 salivary gland adenoid cystic carcinoma skos:exactMatch DOID:4866 salivary gland adenoid cystic carcinoma semapv:UnspecifiedMatching MONDO:0003175 salivary gland adenoid cystic carcinoma skos:exactMatch MEDGEN:79034 semapv:UnspecifiedMatching MONDO:0003175 salivary gland adenoid cystic carcinoma skos:exactMatch NCIT:C8026 Salivary Gland Adenoid Cystic Carcinoma semapv:UnspecifiedMatching MONDO:0003175 salivary gland adenoid cystic carcinoma skos:exactMatch SCTID:422833009 semapv:UnspecifiedMatching MONDO:0003175 salivary gland adenoid cystic carcinoma skos:exactMatch UMLS:C0279751 semapv:UnspecifiedMatching MONDO:0003177 prostate adenoid cystic carcinoma skos:exactMatch DOID:4868 prostate adenoid cystic carcinoma semapv:UnspecifiedMatching MONDO:0003177 prostate adenoid cystic carcinoma skos:exactMatch MEDGEN:233352 semapv:UnspecifiedMatching MONDO:0003177 prostate adenoid cystic carcinoma skos:exactMatch NCIT:C5539 Prostate Adenoid Cystic Carcinoma semapv:UnspecifiedMatching MONDO:0003177 prostate adenoid cystic carcinoma skos:exactMatch UMLS:C1335502 semapv:UnspecifiedMatching MONDO:0003180 cutaneous adenocystic carcinoma skos:exactMatch DOID:4871 cutaneous adenocystic carcinoma semapv:UnspecifiedMatching MONDO:0003180 cutaneous adenocystic carcinoma skos:exactMatch MEDGEN:91071 semapv:UnspecifiedMatching MONDO:0003180 cutaneous adenocystic carcinoma skos:exactMatch NCIT:C4471 Skin Adenoid Cystic Carcinoma semapv:UnspecifiedMatching MONDO:0003180 cutaneous adenocystic carcinoma skos:exactMatch SCTID:254711000 semapv:UnspecifiedMatching MONDO:0003180 cutaneous adenocystic carcinoma skos:exactMatch UMLS:C0346017 semapv:UnspecifiedMatching MONDO:0003181 lung adenoid cystic carcinoma skos:exactMatch DOID:4872 lung adenoid cystic carcinoma semapv:UnspecifiedMatching MONDO:0003181 lung adenoid cystic carcinoma skos:exactMatch MEDGEN:232709 semapv:UnspecifiedMatching MONDO:0003181 lung adenoid cystic carcinoma skos:exactMatch NCIT:C5666 Lung Adenoid Cystic Carcinoma semapv:UnspecifiedMatching MONDO:0003181 lung adenoid cystic carcinoma skos:exactMatch SCTID:707466008 semapv:UnspecifiedMatching MONDO:0003181 lung adenoid cystic carcinoma skos:exactMatch UMLS:C1334439 semapv:UnspecifiedMatching MONDO:0003182 anterior horn disorder skos:exactMatch DOID:4873 anterior horn cell disease semapv:UnspecifiedMatching MONDO:0003182 anterior horn disorder skos:exactMatch MEDGEN:102314 semapv:UnspecifiedMatching MONDO:0003182 anterior horn disorder skos:exactMatch UMLS:C0154681 semapv:UnspecifiedMatching MONDO:0003184 trachea carcinoma skos:exactMatch DOID:4876 trachea carcinoma semapv:UnspecifiedMatching MONDO:0003184 trachea carcinoma skos:exactMatch EFO:1000599 semapv:UnspecifiedMatching MONDO:0003184 trachea carcinoma skos:exactMatch MEDGEN:315650 semapv:UnspecifiedMatching MONDO:0003184 trachea carcinoma skos:exactMatch NCIT:C9347 Tracheal Carcinoma semapv:UnspecifiedMatching MONDO:0003184 trachea carcinoma skos:exactMatch UMLS:C1744708 semapv:UnspecifiedMatching MONDO:0003185 adenoid cystic breast carcinoma skos:exactMatch DOID:4877 breast adenoid cystic carcinoma semapv:UnspecifiedMatching MONDO:0003185 adenoid cystic breast carcinoma skos:exactMatch EFO:1000071 semapv:UnspecifiedMatching MONDO:0003185 adenoid cystic breast carcinoma skos:exactMatch MEDGEN:231031 semapv:UnspecifiedMatching MONDO:0003185 adenoid cystic breast carcinoma skos:exactMatch NCIT:C5130 Breast Adenoid Cystic Carcinoma semapv:UnspecifiedMatching MONDO:0003185 adenoid cystic breast carcinoma skos:exactMatch UMLS:C1332167 semapv:UnspecifiedMatching MONDO:0003186 esophageal adenoid cystic carcinoma skos:exactMatch DOID:4878 esophageal adenoid cystic carcinoma semapv:UnspecifiedMatching MONDO:0003186 esophageal adenoid cystic carcinoma skos:exactMatch MEDGEN:232468 semapv:UnspecifiedMatching MONDO:0003186 esophageal adenoid cystic carcinoma skos:exactMatch NCIT:C5342 Esophageal Adenoid Cystic Carcinoma semapv:UnspecifiedMatching MONDO:0003186 esophageal adenoid cystic carcinoma skos:exactMatch UMLS:C1333441 semapv:UnspecifiedMatching MONDO:0003187 Bartholin gland adenoid cystic carcinoma skos:exactMatch DOID:4879 Bartholin's gland adenoid cystic carcinoma semapv:UnspecifiedMatching MONDO:0003187 Bartholin gland adenoid cystic carcinoma skos:exactMatch MEDGEN:307247 semapv:UnspecifiedMatching MONDO:0003187 Bartholin gland adenoid cystic carcinoma skos:exactMatch NCIT:C40295 Bartholin Gland Adenoid Cystic Carcinoma semapv:UnspecifiedMatching MONDO:0003187 Bartholin gland adenoid cystic carcinoma skos:exactMatch UMLS:C1511047 semapv:UnspecifiedMatching MONDO:0003189 middle ear adenocarcinoma skos:exactMatch DOID:4892 middle ear adenocarcinoma semapv:UnspecifiedMatching MONDO:0003189 middle ear adenocarcinoma skos:exactMatch MEDGEN:235326 semapv:UnspecifiedMatching MONDO:0003189 middle ear adenocarcinoma skos:exactMatch NCIT:C6848 Middle Ear Adenocarcinoma semapv:UnspecifiedMatching MONDO:0003189 middle ear adenocarcinoma skos:exactMatch UMLS:C1334758 semapv:UnspecifiedMatching MONDO:0003190 middle ear carcinoma skos:exactMatch DOID:4893 middle ear carcinoma semapv:UnspecifiedMatching MONDO:0003190 middle ear carcinoma skos:exactMatch MEDGEN:233189 semapv:UnspecifiedMatching MONDO:0003190 middle ear carcinoma skos:exactMatch NCIT:C6089 Middle Ear Carcinoma semapv:UnspecifiedMatching MONDO:0003190 middle ear carcinoma skos:exactMatch UMLS:C1334760 semapv:UnspecifiedMatching MONDO:0003191 rete ovarii adenocarcinoma skos:exactMatch DOID:4894 rete ovarii adenocarcinoma semapv:UnspecifiedMatching MONDO:0003191 rete ovarii adenocarcinoma skos:exactMatch MEDGEN:826068 semapv:UnspecifiedMatching MONDO:0003191 rete ovarii adenocarcinoma skos:exactMatch NCIT:C40017 Rete Ovarii Adenocarcinoma semapv:UnspecifiedMatching MONDO:0003191 rete ovarii adenocarcinoma skos:exactMatch UMLS:C3840223 semapv:UnspecifiedMatching MONDO:0003192 rete ovarii neoplasm skos:exactMatch DOID:4895 rete ovarii benign neoplasm semapv:UnspecifiedMatching MONDO:0003192 rete ovarii neoplasm skos:exactMatch MEDGEN:271118 semapv:UnspecifiedMatching MONDO:0003192 rete ovarii neoplasm skos:exactMatch NCIT:C40016 Rete Ovarii Neoplasm semapv:UnspecifiedMatching MONDO:0003192 rete ovarii neoplasm skos:exactMatch UMLS:C1514909 semapv:UnspecifiedMatching MONDO:0003193 bile duct adenocarcinoma skos:exactMatch DOID:4896 bile duct adenocarcinoma semapv:UnspecifiedMatching MONDO:0003193 bile duct adenocarcinoma skos:exactMatch MEDGEN:234585 semapv:UnspecifiedMatching MONDO:0003193 bile duct adenocarcinoma skos:exactMatch NCIT:C27813 Bile Duct Adenocarcinoma semapv:UnspecifiedMatching MONDO:0003193 bile duct adenocarcinoma skos:exactMatch UMLS:C1370800 semapv:UnspecifiedMatching MONDO:0003194 hemangioma of lung skos:exactMatch DOID:490 hemangioma of lung semapv:UnspecifiedMatching MONDO:0003194 hemangioma of lung skos:exactMatch MEDGEN:1843480 semapv:UnspecifiedMatching MONDO:0003194 hemangioma of lung skos:exactMatch UMLS:C0241983 semapv:UnspecifiedMatching MONDO:0003195 peritoneal serous adenocarcinoma skos:exactMatch DOID:4901 peritoneal serous adenocarcinoma semapv:UnspecifiedMatching MONDO:0003196 appendix carcinoma skos:exactMatch DOID:4902 appendix carcinoma semapv:UnspecifiedMatching MONDO:0003196 appendix carcinoma skos:exactMatch MEDGEN:196398 semapv:UnspecifiedMatching MONDO:0003196 appendix carcinoma skos:exactMatch NCIT:C9330 Appendix Carcinoma semapv:UnspecifiedMatching MONDO:0003196 appendix carcinoma skos:exactMatch SCTID:448992002 semapv:UnspecifiedMatching MONDO:0003196 appendix carcinoma skos:exactMatch UMLS:C0728951 semapv:UnspecifiedMatching MONDO:0003197 granular cell carcinoma skos:exactMatch DOID:4903 granular cell carcinoma semapv:UnspecifiedMatching MONDO:0003197 granular cell carcinoma skos:exactMatch MEDGEN:104695 semapv:UnspecifiedMatching MONDO:0003197 granular cell carcinoma skos:exactMatch NCIT:C3681 Granular Cell Carcinoma semapv:UnspecifiedMatching MONDO:0003197 granular cell carcinoma skos:exactMatch UMLS:C0205644 semapv:UnspecifiedMatching MONDO:0003198 small intestine adenocarcinoma skos:exactMatch DOID:4906 small intestine adenocarcinoma semapv:UnspecifiedMatching MONDO:0003198 small intestine adenocarcinoma skos:exactMatch EFO:1000532 semapv:UnspecifiedMatching MONDO:0003198 small intestine adenocarcinoma skos:exactMatch MEDGEN:82984 semapv:UnspecifiedMatching MONDO:0003198 small intestine adenocarcinoma skos:exactMatch NCIT:C7888 Small Intestinal Adenocarcinoma semapv:UnspecifiedMatching MONDO:0003198 small intestine adenocarcinoma skos:exactMatch Orphanet:104075 Adenocarcinoma of the small intestine semapv:UnspecifiedMatching MONDO:0003198 small intestine adenocarcinoma skos:exactMatch SCTID:424440001 semapv:UnspecifiedMatching MONDO:0003198 small intestine adenocarcinoma skos:exactMatch UMLS:C0278803 semapv:UnspecifiedMatching MONDO:0003198 small intestine adenocarcinoma skos:exactMatch icd11.foundation:1369513329 Adenocarcinoma of small intestine, site unspecified semapv:UnspecifiedMatching MONDO:0003199 anal carcinoma skos:exactMatch DOID:4908 anal carcinoma semapv:UnspecifiedMatching MONDO:0003199 anal carcinoma skos:exactMatch MEDGEN:76006 semapv:UnspecifiedMatching MONDO:0003199 anal carcinoma skos:exactMatch NCIT:C9291 Anal Carcinoma semapv:UnspecifiedMatching MONDO:0003199 anal carcinoma skos:exactMatch SCTID:448315008 semapv:UnspecifiedMatching MONDO:0003199 anal carcinoma skos:exactMatch UMLS:C0279637 semapv:UnspecifiedMatching MONDO:0003200 urethra adenocarcinoma skos:exactMatch DOID:4910 urethra adenocarcinoma semapv:UnspecifiedMatching MONDO:0003200 urethra adenocarcinoma skos:exactMatch MEDGEN:234461 semapv:UnspecifiedMatching MONDO:0003200 urethra adenocarcinoma skos:exactMatch NCIT:C6167 Urethral Adenocarcinoma semapv:UnspecifiedMatching MONDO:0003200 urethra adenocarcinoma skos:exactMatch UMLS:C1336885 semapv:UnspecifiedMatching MONDO:0003202 pituitary gland basophilic carcinoma skos:exactMatch DOID:4915 basophilic adenocarcinoma semapv:UnspecifiedMatching MONDO:0003202 pituitary gland basophilic carcinoma skos:exactMatch MEDGEN:352901 semapv:UnspecifiedMatching MONDO:0003202 pituitary gland basophilic carcinoma skos:exactMatch UMLS:C1704778 semapv:UnspecifiedMatching MONDO:0003204 villous adenocarcinoma skos:exactMatch DOID:4917 villous adenocarcinoma semapv:UnspecifiedMatching MONDO:0003204 villous adenocarcinoma skos:exactMatch MEDGEN:137741 semapv:UnspecifiedMatching MONDO:0003204 villous adenocarcinoma skos:exactMatch NCIT:C4142 Villous Adenocarcinoma semapv:UnspecifiedMatching MONDO:0003204 villous adenocarcinoma skos:exactMatch UMLS:C0334306 semapv:UnspecifiedMatching MONDO:0003205 renal pelvis adenocarcinoma skos:exactMatch DOID:4918 renal pelvis adenocarcinoma semapv:UnspecifiedMatching MONDO:0003205 renal pelvis adenocarcinoma skos:exactMatch MEDGEN:277590 semapv:UnspecifiedMatching MONDO:0003205 renal pelvis adenocarcinoma skos:exactMatch NCIT:C6143 Renal Pelvis Adenocarcinoma semapv:UnspecifiedMatching MONDO:0003205 renal pelvis adenocarcinoma skos:exactMatch UMLS:C1335748 semapv:UnspecifiedMatching MONDO:0003206 acquired hemangioma skos:exactMatch DOID:492 acquired hemangioma semapv:UnspecifiedMatching MONDO:0003206 acquired hemangioma skos:exactMatch MEDGEN:208988 semapv:UnspecifiedMatching MONDO:0003206 acquired hemangioma skos:exactMatch NCIT:C27018 Acquired Hemangioma semapv:UnspecifiedMatching MONDO:0003206 acquired hemangioma skos:exactMatch UMLS:C0856897 semapv:UnspecifiedMatching MONDO:0003208 breast secretory carcinoma skos:exactMatch DOID:4922 breast secretory carcinoma semapv:UnspecifiedMatching MONDO:0003208 breast secretory carcinoma skos:exactMatch MEDGEN:87226 semapv:UnspecifiedMatching MONDO:0003208 breast secretory carcinoma skos:exactMatch NCIT:C4189 Breast Secretory Carcinoma semapv:UnspecifiedMatching MONDO:0003208 breast secretory carcinoma skos:exactMatch UMLS:C0334371 semapv:UnspecifiedMatching MONDO:0003208 breast secretory carcinoma skos:exactMatch mesh:C537535 semapv:UnspecifiedMatching MONDO:0003209 thymus gland adenocarcinoma skos:exactMatch DOID:4923 thymus adenocarcinoma semapv:UnspecifiedMatching MONDO:0003209 thymus gland adenocarcinoma skos:exactMatch MEDGEN:234426 semapv:UnspecifiedMatching MONDO:0003209 thymus gland adenocarcinoma skos:exactMatch NCIT:C6459 Thymus Adenocarcinoma semapv:UnspecifiedMatching MONDO:0003209 thymus gland adenocarcinoma skos:exactMatch UMLS:C1336743 semapv:UnspecifiedMatching MONDO:0003210 intrahepatic cholangiocarcinoma skos:exactMatch DOID:4928 intrahepatic cholangiocarcinoma semapv:UnspecifiedMatching MONDO:0003210 intrahepatic cholangiocarcinoma skos:exactMatch EFO:1001961 semapv:UnspecifiedMatching MONDO:0003210 intrahepatic cholangiocarcinoma skos:exactMatch ICD10CM:C22.1 Intrahepatic bile duct carcinoma semapv:UnspecifiedMatching MONDO:0003210 intrahepatic cholangiocarcinoma skos:exactMatch MEDGEN:87521 semapv:UnspecifiedMatching MONDO:0003210 intrahepatic cholangiocarcinoma skos:exactMatch NCIT:C35417 Intrahepatic Cholangiocarcinoma semapv:UnspecifiedMatching MONDO:0003210 intrahepatic cholangiocarcinoma skos:exactMatch SCTID:109842005 semapv:UnspecifiedMatching MONDO:0003210 intrahepatic cholangiocarcinoma skos:exactMatch UMLS:C0345905 semapv:UnspecifiedMatching MONDO:0003210 intrahepatic cholangiocarcinoma skos:exactMatch icd11.foundation:1253728223 Intrahepatic cholangiocarcinoma semapv:UnspecifiedMatching MONDO:0003210 intrahepatic cholangiocarcinoma skos:exactMatch icd11.foundation:387909164 Intrahepatic bile duct carcinoma semapv:UnspecifiedMatching MONDO:0003211 nasal cavity adenocarcinoma skos:exactMatch DOID:4930 nasal cavity adenocarcinoma semapv:UnspecifiedMatching MONDO:0003211 nasal cavity adenocarcinoma skos:exactMatch MEDGEN:233746 semapv:UnspecifiedMatching MONDO:0003211 nasal cavity adenocarcinoma skos:exactMatch NCIT:C6015 Nasal Cavity Adenocarcinoma semapv:UnspecifiedMatching MONDO:0003211 nasal cavity adenocarcinoma skos:exactMatch UMLS:C1334920 semapv:UnspecifiedMatching MONDO:0003212 nasal cavity carcinoma skos:exactMatch DOID:4931 nasal cavity carcinoma semapv:UnspecifiedMatching MONDO:0003212 nasal cavity carcinoma skos:exactMatch MEDGEN:235119 semapv:UnspecifiedMatching MONDO:0003212 nasal cavity carcinoma skos:exactMatch NCIT:C9336 Nasal Cavity Carcinoma semapv:UnspecifiedMatching MONDO:0003212 nasal cavity carcinoma skos:exactMatch SCTID:448990005 semapv:UnspecifiedMatching MONDO:0003212 nasal cavity carcinoma skos:exactMatch UMLS:C1377785 semapv:UnspecifiedMatching MONDO:0003214 apocrine adenocarcinoma skos:exactMatch DOID:4933 apocrine carcinoma semapv:UnspecifiedMatching MONDO:0003214 apocrine adenocarcinoma skos:exactMatch MEDGEN:569650 semapv:UnspecifiedMatching MONDO:0003214 apocrine adenocarcinoma skos:exactMatch NCIT:C4169 Apocrine Carcinoma semapv:UnspecifiedMatching MONDO:0003214 apocrine adenocarcinoma skos:exactMatch UMLS:C0334346 semapv:UnspecifiedMatching MONDO:0003215 apocrine sweat gland cancer skos:exactMatch DOID:4934 apocrine sweat gland cancer semapv:UnspecifiedMatching MONDO:0003215 apocrine sweat gland cancer skos:exactMatch MEDGEN:277327 semapv:UnspecifiedMatching MONDO:0003215 apocrine sweat gland cancer skos:exactMatch NCIT:C6800 Malignant Apocrine Neoplasm semapv:UnspecifiedMatching MONDO:0003215 apocrine sweat gland cancer skos:exactMatch UMLS:C1334561 semapv:UnspecifiedMatching MONDO:0003216 ureter adenocarcinoma skos:exactMatch DOID:4938 ureter adenocarcinoma semapv:UnspecifiedMatching MONDO:0003216 ureter adenocarcinoma skos:exactMatch MEDGEN:234456 semapv:UnspecifiedMatching MONDO:0003216 ureter adenocarcinoma skos:exactMatch NCIT:C6155 Ureter Adenocarcinoma semapv:UnspecifiedMatching MONDO:0003216 ureter adenocarcinoma skos:exactMatch UMLS:C1336873 semapv:UnspecifiedMatching MONDO:0003218 adenocarcinoma in situ skos:exactMatch DOID:4943 adenocarcinoma in situ semapv:UnspecifiedMatching MONDO:0003218 adenocarcinoma in situ skos:exactMatch MEDGEN:87203 semapv:UnspecifiedMatching MONDO:0003218 adenocarcinoma in situ skos:exactMatch NCIT:C4123 Adenocarcinoma In Situ semapv:UnspecifiedMatching MONDO:0003218 adenocarcinoma in situ skos:exactMatch UMLS:C0334276 semapv:UnspecifiedMatching MONDO:0003218 adenocarcinoma in situ skos:exactMatch mesh:D065311 semapv:UnspecifiedMatching MONDO:0003219 gastroesophageal junction adenocarcinoma skos:exactMatch DOID:4944 gastroesophageal junction adenocarcinoma semapv:UnspecifiedMatching MONDO:0003219 gastroesophageal junction adenocarcinoma skos:exactMatch MEDGEN:231030 semapv:UnspecifiedMatching MONDO:0003219 gastroesophageal junction adenocarcinoma skos:exactMatch NCIT:C9296 Gastroesophageal Junction Adenocarcinoma semapv:UnspecifiedMatching MONDO:0003219 gastroesophageal junction adenocarcinoma skos:exactMatch UMLS:C1332166 semapv:UnspecifiedMatching MONDO:0003220 gallbladder carcinoma skos:exactMatch DOID:4948 gallbladder carcinoma semapv:UnspecifiedMatching MONDO:0003220 gallbladder carcinoma skos:exactMatch EFO:1001956 semapv:UnspecifiedMatching MONDO:0003220 gallbladder carcinoma skos:exactMatch MEDGEN:116001 semapv:UnspecifiedMatching MONDO:0003220 gallbladder carcinoma skos:exactMatch NCIT:C3844 Gallbladder Carcinoma semapv:UnspecifiedMatching MONDO:0003220 gallbladder carcinoma skos:exactMatch SCTID:372140005 semapv:UnspecifiedMatching MONDO:0003220 gallbladder carcinoma skos:exactMatch UMLS:C0235782 semapv:UnspecifiedMatching MONDO:0003222 central nervous system melanocytic neoplasm skos:exactMatch DOID:4955 central nervous system melanocytic neoplasm semapv:UnspecifiedMatching MONDO:0003222 central nervous system melanocytic neoplasm skos:exactMatch MEDGEN:1809168 semapv:UnspecifiedMatching MONDO:0003222 central nervous system melanocytic neoplasm skos:exactMatch SCTID:277523004 semapv:UnspecifiedMatching MONDO:0003222 central nervous system melanocytic neoplasm skos:exactMatch UMLS:C5670969 semapv:UnspecifiedMatching MONDO:0003223 meninges hemangiopericytoma skos:exactMatch DOID:4957 meninges hemangiopericytoma semapv:UnspecifiedMatching MONDO:0003223 meninges hemangiopericytoma skos:exactMatch MEDGEN:83894 semapv:UnspecifiedMatching MONDO:0003223 meninges hemangiopericytoma skos:exactMatch NCIT:C4660 Meningeal Solitary Fibrous Tumor semapv:UnspecifiedMatching MONDO:0003223 meninges hemangiopericytoma skos:exactMatch SCTID:277522009 semapv:UnspecifiedMatching MONDO:0003223 meninges hemangiopericytoma skos:exactMatch UMLS:C0349622 semapv:UnspecifiedMatching MONDO:0003225 bone marrow disorder skos:exactMatch DOID:4961 bone marrow disease semapv:UnspecifiedMatching MONDO:0003225 bone marrow disorder skos:exactMatch MEDGEN:892905 semapv:UnspecifiedMatching MONDO:0003225 bone marrow disorder skos:exactMatch NCIT:C34433 Bone Marrow Disorder semapv:UnspecifiedMatching MONDO:0003225 bone marrow disorder skos:exactMatch SCTID:127035006 semapv:UnspecifiedMatching MONDO:0003225 bone marrow disorder skos:exactMatch UMLS:C4021634 semapv:UnspecifiedMatching MONDO:0003225 bone marrow disorder skos:exactMatch mesh:D001855 semapv:UnspecifiedMatching MONDO:0003227 prosopagnosia skos:exactMatch DOID:4970 prosopagnosia semapv:UnspecifiedMatching MONDO:0003227 prosopagnosia skos:exactMatch MEDGEN:65884 semapv:UnspecifiedMatching MONDO:0003227 prosopagnosia skos:exactMatch NCIT:C85031 Prosopagnosia semapv:UnspecifiedMatching MONDO:0003227 prosopagnosia skos:exactMatch UMLS:C0234512 semapv:UnspecifiedMatching MONDO:0003227 prosopagnosia skos:exactMatch icd11.foundation:858616900 Prosopagnosia semapv:UnspecifiedMatching MONDO:0003227 prosopagnosia skos:exactMatch mesh:D020238 semapv:UnspecifiedMatching MONDO:0003231 acute nonparalytic poliomyelitis skos:exactMatch DOID:4986 nonparalytic poliomyelitis semapv:UnspecifiedMatching MONDO:0003231 acute nonparalytic poliomyelitis skos:exactMatch ICD10CM:A80.4 Acute nonparalytic poliomyelitis semapv:UnspecifiedMatching MONDO:0003231 acute nonparalytic poliomyelitis skos:exactMatch MEDGEN:509107 semapv:UnspecifiedMatching MONDO:0003231 acute nonparalytic poliomyelitis skos:exactMatch SCTID:14535005 semapv:UnspecifiedMatching MONDO:0003231 acute nonparalytic poliomyelitis skos:exactMatch UMLS:C0152998 semapv:UnspecifiedMatching MONDO:0003231 acute nonparalytic poliomyelitis skos:exactMatch icd11.foundation:1066160874 Acute nonparalytic poliomyelitis semapv:UnspecifiedMatching MONDO:0003232 alcoholic pancreatitis skos:exactMatch DOID:4988 alcoholic pancreatitis semapv:UnspecifiedMatching MONDO:0003232 alcoholic pancreatitis skos:exactMatch EFO:1002013 semapv:UnspecifiedMatching MONDO:0003232 alcoholic pancreatitis skos:exactMatch MEDGEN:84027 semapv:UnspecifiedMatching MONDO:0003232 alcoholic pancreatitis skos:exactMatch SCTID:445507008 semapv:UnspecifiedMatching MONDO:0003232 alcoholic pancreatitis skos:exactMatch UMLS:C0376670 semapv:UnspecifiedMatching MONDO:0003232 alcoholic pancreatitis skos:exactMatch mesh:D019512 semapv:UnspecifiedMatching MONDO:0003233 essential tremor skos:exactMatch DOID:4990 essential tremor semapv:UnspecifiedMatching MONDO:0003233 essential tremor skos:exactMatch EFO:0003108 semapv:UnspecifiedMatching MONDO:0003233 essential tremor skos:exactMatch ICD10CM:G25.0 Essential tremor semapv:UnspecifiedMatching MONDO:0003233 essential tremor skos:exactMatch MEDGEN:78725 semapv:UnspecifiedMatching MONDO:0003233 essential tremor skos:exactMatch OMIMPS:190300 Tremor, hereditary essential semapv:UnspecifiedMatching MONDO:0003233 essential tremor skos:exactMatch SCTID:609558009 semapv:UnspecifiedMatching MONDO:0003233 essential tremor skos:exactMatch UMLS:C0270736 semapv:UnspecifiedMatching MONDO:0003233 essential tremor skos:exactMatch mesh:D020329 semapv:UnspecifiedMatching MONDO:0003234 optic nerve astrocytoma skos:exactMatch DOID:4991 optic nerve astrocytoma semapv:UnspecifiedMatching MONDO:0003234 optic nerve astrocytoma skos:exactMatch MEDGEN:235405 semapv:UnspecifiedMatching MONDO:0003234 optic nerve astrocytoma skos:exactMatch NCIT:C6769 Optic Nerve Astrocytoma semapv:UnspecifiedMatching MONDO:0003234 optic nerve astrocytoma skos:exactMatch UMLS:C1335114 semapv:UnspecifiedMatching MONDO:0003235 optic nerve glioma skos:exactMatch DOID:4992 optic nerve glioma semapv:UnspecifiedMatching MONDO:0003235 optic nerve glioma skos:exactMatch EFO:0009254 semapv:UnspecifiedMatching MONDO:0003235 optic nerve glioma skos:exactMatch MEDGEN:138056 semapv:UnspecifiedMatching MONDO:0003235 optic nerve glioma skos:exactMatch NCIT:C4537 Optic Nerve Glioma semapv:UnspecifiedMatching MONDO:0003235 optic nerve glioma skos:exactMatch SCTID:254976006 semapv:UnspecifiedMatching MONDO:0003235 optic nerve glioma skos:exactMatch UMLS:C0346326 semapv:UnspecifiedMatching MONDO:0003235 optic nerve glioma skos:exactMatch mesh:D020339 semapv:UnspecifiedMatching MONDO:0003236 atypical polypoid adenomyoma skos:exactMatch DOID:4993 atypical polypoid adenomyoma semapv:UnspecifiedMatching MONDO:0003236 atypical polypoid adenomyoma skos:exactMatch MEDGEN:266248 semapv:UnspecifiedMatching MONDO:0003236 atypical polypoid adenomyoma skos:exactMatch NCIT:C6895 Atypical Polypoid Adenomyoma semapv:UnspecifiedMatching MONDO:0003236 atypical polypoid adenomyoma skos:exactMatch UMLS:C1300347 semapv:UnspecifiedMatching MONDO:0003237 adenomyoma of uterine corpus skos:exactMatch DOID:4994 adenomyoma of uterine corpus semapv:UnspecifiedMatching MONDO:0003237 adenomyoma of uterine corpus skos:exactMatch MEDGEN:234465 semapv:UnspecifiedMatching MONDO:0003237 adenomyoma of uterine corpus skos:exactMatch NCIT:C6338 Uterine Corpus Adenomyoma semapv:UnspecifiedMatching MONDO:0003237 adenomyoma of uterine corpus skos:exactMatch UMLS:C1336903 semapv:UnspecifiedMatching MONDO:0003238 cervical adenomyoma skos:exactMatch DOID:4995 cervical adenomyoma semapv:UnspecifiedMatching MONDO:0003238 cervical adenomyoma skos:exactMatch MEDGEN:275705 semapv:UnspecifiedMatching MONDO:0003238 cervical adenomyoma skos:exactMatch NCIT:C40231 Cervical Adenomyoma semapv:UnspecifiedMatching MONDO:0003238 cervical adenomyoma skos:exactMatch UMLS:C1516404 semapv:UnspecifiedMatching MONDO:0003240 thyroid gland disorder skos:exactMatch DOID:50 thyroid gland disease semapv:UnspecifiedMatching MONDO:0003240 thyroid gland disorder skos:exactMatch EFO:1000627 semapv:UnspecifiedMatching MONDO:0003240 thyroid gland disorder skos:exactMatch ICD10CM:E00-E07 Disorders of thyroid gland (E00-E07) semapv:UnspecifiedMatching MONDO:0003240 thyroid gland disorder skos:exactMatch MEDGEN:1378579 semapv:UnspecifiedMatching MONDO:0003240 thyroid gland disorder skos:exactMatch NCIT:C26893 Thyroid Gland Disorder semapv:UnspecifiedMatching MONDO:0003240 thyroid gland disorder skos:exactMatch SCTID:14304000 semapv:UnspecifiedMatching MONDO:0003240 thyroid gland disorder skos:exactMatch UMLS:C4317107 semapv:UnspecifiedMatching MONDO:0003240 thyroid gland disorder skos:exactMatch mesh:D013959 semapv:UnspecifiedMatching MONDO:0003241 central nervous system hemangioma skos:exactMatch DOID:501 central nervous system hemangioma semapv:UnspecifiedMatching MONDO:0003241 central nervous system hemangioma skos:exactMatch MEDGEN:272703 semapv:UnspecifiedMatching MONDO:0003241 central nervous system hemangioma skos:exactMatch NCIT:C7004 Central Nervous System Hemangioma semapv:UnspecifiedMatching MONDO:0003241 central nervous system hemangioma skos:exactMatch UMLS:C1333957 semapv:UnspecifiedMatching MONDO:0003243 hepatocellular clear cell carcinoma skos:exactMatch DOID:5016 hepatocellular clear cell carcinoma semapv:UnspecifiedMatching MONDO:0003243 hepatocellular clear cell carcinoma skos:exactMatch MEDGEN:690059 semapv:UnspecifiedMatching MONDO:0003243 hepatocellular clear cell carcinoma skos:exactMatch NCIT:C5754 Hepatocellular Clear Cell Carcinoma semapv:UnspecifiedMatching MONDO:0003243 hepatocellular clear cell carcinoma skos:exactMatch UMLS:C1266020 semapv:UnspecifiedMatching MONDO:0003244 central nervous system mesenchymal non-meningothelial tumor skos:exactMatch DOID:502 central nervous system mesenchymal non-meningothelial tumor semapv:UnspecifiedMatching MONDO:0003244 central nervous system mesenchymal non-meningothelial tumor skos:exactMatch MEDGEN:234104 semapv:UnspecifiedMatching MONDO:0003244 central nervous system mesenchymal non-meningothelial tumor skos:exactMatch NCIT:C5449 Central Nervous System Mesenchymal, Non-Meningothelial Neoplasm semapv:UnspecifiedMatching MONDO:0003244 central nervous system mesenchymal non-meningothelial tumor skos:exactMatch UMLS:C1332893 semapv:UnspecifiedMatching MONDO:0003245 aflatoxin-related hepatocellular carcinoma skos:exactMatch DOID:5022 aflatoxins-related hepatocellular carcinoma semapv:UnspecifiedMatching MONDO:0003245 aflatoxin-related hepatocellular carcinoma skos:exactMatch MEDGEN:231047 semapv:UnspecifiedMatching MONDO:0003245 aflatoxin-related hepatocellular carcinoma skos:exactMatch NCIT:C27922 Aflatoxins-Related Hepatocellular Carcinoma semapv:UnspecifiedMatching MONDO:0003245 aflatoxin-related hepatocellular carcinoma skos:exactMatch UMLS:C1332222 semapv:UnspecifiedMatching MONDO:0003246 sclerosing hepatic carcinoma skos:exactMatch DOID:5026 sclerosing hepatic carcinoma semapv:UnspecifiedMatching MONDO:0003246 sclerosing hepatic carcinoma skos:exactMatch MEDGEN:266088 semapv:UnspecifiedMatching MONDO:0003246 sclerosing hepatic carcinoma skos:exactMatch NCIT:C27388 Hepatocellular Scirrhous Carcinoma semapv:UnspecifiedMatching MONDO:0003246 sclerosing hepatic carcinoma skos:exactMatch UMLS:C1266018 semapv:UnspecifiedMatching MONDO:0003248 adult pineal parenchymal tumor skos:exactMatch DOID:5031 adult pineal parenchymal tumor semapv:UnspecifiedMatching MONDO:0003248 adult pineal parenchymal tumor skos:exactMatch MEDGEN:83710 semapv:UnspecifiedMatching MONDO:0003248 adult pineal parenchymal tumor skos:exactMatch NCIT:C8273 Adult Pineal Parenchymal Cell Neoplasm semapv:UnspecifiedMatching MONDO:0003248 adult pineal parenchymal tumor skos:exactMatch UMLS:C0280794 semapv:UnspecifiedMatching MONDO:0003249 pineal gland cancer skos:exactMatch DOID:5032 pineal gland cancer semapv:UnspecifiedMatching MONDO:0003249 pineal gland cancer skos:exactMatch ICD10CM:C75.3 Malignant neoplasm of pineal gland semapv:UnspecifiedMatching MONDO:0003249 pineal gland cancer skos:exactMatch MEDGEN:102284 semapv:UnspecifiedMatching MONDO:0003249 pineal gland cancer skos:exactMatch NCIT:C3573 Malignant Pineal Region Neoplasm semapv:UnspecifiedMatching MONDO:0003249 pineal gland cancer skos:exactMatch SCTID:363483004 semapv:UnspecifiedMatching MONDO:0003249 pineal gland cancer skos:exactMatch UMLS:C0153655 semapv:UnspecifiedMatching MONDO:0003250 benign granular cell tumor skos:exactMatch DOID:5039 myoblastoma semapv:UnspecifiedMatching MONDO:0003250 benign granular cell tumor skos:exactMatch MEDGEN:44550 semapv:UnspecifiedMatching MONDO:0003250 benign granular cell tumor skos:exactMatch NCIT:C3252 Benign Granular Cell Tumor semapv:UnspecifiedMatching MONDO:0003250 benign granular cell tumor skos:exactMatch UMLS:C0027043 semapv:UnspecifiedMatching MONDO:0003251 esophageal granular cell tumor skos:exactMatch DOID:5040 malignant granular cell esophageal tumor semapv:UnspecifiedMatching MONDO:0003251 esophageal granular cell tumor skos:exactMatch MEDGEN:234228 semapv:UnspecifiedMatching MONDO:0003251 esophageal granular cell tumor skos:exactMatch NCIT:C5700 Esophageal Granular Cell Tumor semapv:UnspecifiedMatching MONDO:0003251 esophageal granular cell tumor skos:exactMatch UMLS:C1333448 semapv:UnspecifiedMatching MONDO:0003251 esophageal granular cell tumor skos:exactMatch icd11.foundation:1070074406 Granular cell tumour of oesophagus semapv:UnspecifiedMatching MONDO:0003252 granular cell cancer skos:exactMatch DOID:5042 malignant granular cell myoblastoma semapv:UnspecifiedMatching MONDO:0003252 granular cell cancer skos:exactMatch MEDGEN:87276 semapv:UnspecifiedMatching MONDO:0003252 granular cell cancer skos:exactMatch NCIT:C4336 Malignant Granular Cell Tumor semapv:UnspecifiedMatching MONDO:0003252 granular cell cancer skos:exactMatch SCTID:404041003 semapv:UnspecifiedMatching MONDO:0003252 granular cell cancer skos:exactMatch UMLS:C0334618 semapv:UnspecifiedMatching MONDO:0003253 vulvar granular cell tumor skos:exactMatch DOID:5043 vulvar granular cell tumor semapv:UnspecifiedMatching MONDO:0003253 vulvar granular cell tumor skos:exactMatch MEDGEN:276992 semapv:UnspecifiedMatching MONDO:0003253 vulvar granular cell tumor skos:exactMatch NCIT:C40328 Vulvar Granular Cell Tumor semapv:UnspecifiedMatching MONDO:0003253 vulvar granular cell tumor skos:exactMatch UMLS:C1520083 semapv:UnspecifiedMatching MONDO:0003254 cardiac granular cell neoplasm skos:exactMatch DOID:5044 cardiac granular cell neoplasm semapv:UnspecifiedMatching MONDO:0003254 cardiac granular cell neoplasm skos:exactMatch MEDGEN:232023 semapv:UnspecifiedMatching MONDO:0003254 cardiac granular cell neoplasm skos:exactMatch NCIT:C5360 Cardiac Granular Cell Tumor semapv:UnspecifiedMatching MONDO:0003254 cardiac granular cell neoplasm skos:exactMatch UMLS:C1332845 semapv:UnspecifiedMatching MONDO:0003255 mediastinal granular cell myoblastoma skos:exactMatch DOID:5046 mediastinal granular cell myoblastoma semapv:UnspecifiedMatching MONDO:0003255 mediastinal granular cell myoblastoma skos:exactMatch MEDGEN:235309 semapv:UnspecifiedMatching MONDO:0003255 mediastinal granular cell myoblastoma skos:exactMatch NCIT:C6601 Mediastinal Granular Cell Tumor semapv:UnspecifiedMatching MONDO:0003255 mediastinal granular cell myoblastoma skos:exactMatch UMLS:C1334656 semapv:UnspecifiedMatching MONDO:0003256 neurohypophysis granular cell tumor skos:exactMatch DOID:5047 granular cell tumor of the sellar region semapv:UnspecifiedMatching MONDO:0003256 neurohypophysis granular cell tumor skos:exactMatch EFO:1000285 semapv:UnspecifiedMatching MONDO:0003256 neurohypophysis granular cell tumor skos:exactMatch MEDGEN:232255 semapv:UnspecifiedMatching MONDO:0003256 neurohypophysis granular cell tumor skos:exactMatch NCIT:C7017 Granular Cell Tumor of the Sellar Region semapv:UnspecifiedMatching MONDO:0003256 neurohypophysis granular cell tumor skos:exactMatch SCTID:699331002 semapv:UnspecifiedMatching MONDO:0003256 neurohypophysis granular cell tumor skos:exactMatch UMLS:C1333873 semapv:UnspecifiedMatching MONDO:0003257 posterior pituitary gland neoplasm skos:exactMatch DOID:5048 posterior pituitary gland neoplasm semapv:UnspecifiedMatching MONDO:0003257 posterior pituitary gland neoplasm skos:exactMatch MEDGEN:235368 semapv:UnspecifiedMatching MONDO:0003257 posterior pituitary gland neoplasm skos:exactMatch NCIT:C7157 Posterior Pituitary Gland Neoplasm semapv:UnspecifiedMatching MONDO:0003257 posterior pituitary gland neoplasm skos:exactMatch UMLS:C1334957 semapv:UnspecifiedMatching MONDO:0003258 hobnail hemangioma skos:exactMatch DOID:505 hobnail hemangioma semapv:UnspecifiedMatching MONDO:0003258 hobnail hemangioma skos:exactMatch MEDGEN:91080 semapv:UnspecifiedMatching MONDO:0003258 hobnail hemangioma skos:exactMatch NCIT:C27506 Hobnail Hemangioma semapv:UnspecifiedMatching MONDO:0003258 hobnail hemangioma skos:exactMatch Orphanet:675362 Hobnail hemangioma semapv:UnspecifiedMatching MONDO:0003258 hobnail hemangioma skos:exactMatch SCTID:254790003 semapv:UnspecifiedMatching MONDO:0003258 hobnail hemangioma skos:exactMatch UMLS:C0346076 semapv:UnspecifiedMatching MONDO:0003260 adult cerebellar neoplasm skos:exactMatch DOID:5056 adult cerebellar neoplasm semapv:UnspecifiedMatching MONDO:0003260 adult cerebellar neoplasm skos:exactMatch MEDGEN:272293 semapv:UnspecifiedMatching MONDO:0003260 adult cerebellar neoplasm skos:exactMatch NCIT:C5968 Adult Cerebellar Neoplasm semapv:UnspecifiedMatching MONDO:0003260 adult cerebellar neoplasm skos:exactMatch UMLS:C1332197 semapv:UnspecifiedMatching MONDO:0003261 papillary meningioma of the cerebellum skos:exactMatch DOID:5057 papillary meningioma of the cerebellum semapv:UnspecifiedMatching MONDO:0003261 papillary meningioma of the cerebellum skos:exactMatch MEDGEN:234109 semapv:UnspecifiedMatching MONDO:0003261 papillary meningioma of the cerebellum skos:exactMatch NCIT:C5270 Cerebellar Papillary Meningioma semapv:UnspecifiedMatching MONDO:0003261 papillary meningioma of the cerebellum skos:exactMatch UMLS:C1332902 semapv:UnspecifiedMatching MONDO:0003262 rhabdoid meningioma skos:exactMatch DOID:5058 rhabdoid meningioma semapv:UnspecifiedMatching MONDO:0003262 rhabdoid meningioma skos:exactMatch MEDGEN:120445 semapv:UnspecifiedMatching MONDO:0003262 rhabdoid meningioma skos:exactMatch NCIT:C6909 Rhabdoid Meningioma semapv:UnspecifiedMatching MONDO:0003262 rhabdoid meningioma skos:exactMatch UMLS:C0259786 semapv:UnspecifiedMatching MONDO:0003263 childhood cerebellar neoplasm skos:exactMatch DOID:5059 childhood cerebellar neoplasm semapv:UnspecifiedMatching MONDO:0003263 childhood cerebellar neoplasm skos:exactMatch MEDGEN:234124 semapv:UnspecifiedMatching MONDO:0003263 childhood cerebellar neoplasm skos:exactMatch NCIT:C5970 Childhood Cerebellar Neoplasm semapv:UnspecifiedMatching MONDO:0003263 childhood cerebellar neoplasm skos:exactMatch UMLS:C1332959 semapv:UnspecifiedMatching MONDO:0003264 basosquamous carcinoma skos:exactMatch DOID:5063 basosquamous carcinoma semapv:UnspecifiedMatching MONDO:0003264 basosquamous carcinoma skos:exactMatch EFO:1000529 semapv:UnspecifiedMatching MONDO:0003264 basosquamous carcinoma skos:exactMatch MEDGEN:2841 semapv:UnspecifiedMatching MONDO:0003264 basosquamous carcinoma skos:exactMatch NCIT:C2922 Skin Basosquamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0003264 basosquamous carcinoma skos:exactMatch UMLS:C0007118 semapv:UnspecifiedMatching MONDO:0003264 basosquamous carcinoma skos:exactMatch mesh:D002281 semapv:UnspecifiedMatching MONDO:0003265 adjustment disorder skos:exactMatch DOID:507 adjustment disorder semapv:UnspecifiedMatching MONDO:0003265 adjustment disorder skos:exactMatch MEDGEN:1338 semapv:UnspecifiedMatching MONDO:0003265 adjustment disorder skos:exactMatch NCIT:C92191 Adjustment Disorder semapv:UnspecifiedMatching MONDO:0003265 adjustment disorder skos:exactMatch SCTID:17226007 semapv:UnspecifiedMatching MONDO:0003265 adjustment disorder skos:exactMatch UMLS:C0001546 semapv:UnspecifiedMatching MONDO:0003265 adjustment disorder skos:exactMatch icd11.foundation:264310751 Adjustment disorder semapv:UnspecifiedMatching MONDO:0003265 adjustment disorder skos:exactMatch mesh:D000275 semapv:UnspecifiedMatching MONDO:0003266 ependymal tumor skos:exactMatch EFO:1000027 semapv:UnspecifiedMatching MONDO:0003266 ependymal tumor skos:exactMatch MEDGEN:232459 semapv:UnspecifiedMatching MONDO:0003266 ependymal tumor skos:exactMatch NCIT:C6770 Ependymal Tumor semapv:UnspecifiedMatching MONDO:0003266 ependymal tumor skos:exactMatch Orphanet:301 Ependymal tumor semapv:UnspecifiedMatching MONDO:0003266 ependymal tumor skos:exactMatch UMLS:C1333407 semapv:UnspecifiedMatching MONDO:0003268 mixed glioma skos:exactMatch DOID:5076 mixed glioma semapv:UnspecifiedMatching MONDO:0003268 mixed glioma skos:exactMatch MEDGEN:75477 semapv:UnspecifiedMatching MONDO:0003268 mixed glioma skos:exactMatch NCIT:C3903 Mixed Glioma semapv:UnspecifiedMatching MONDO:0003268 mixed glioma skos:exactMatch SCTID:443937008 semapv:UnspecifiedMatching MONDO:0003268 mixed glioma skos:exactMatch UMLS:C0259783 semapv:UnspecifiedMatching MONDO:0003271 iodine hypothyroidism skos:exactMatch DOID:5083 iodine hypothyroidism semapv:UnspecifiedMatching MONDO:0003271 iodine hypothyroidism skos:exactMatch MEDGEN:509535 semapv:UnspecifiedMatching MONDO:0003271 iodine hypothyroidism skos:exactMatch SCTID:190279008 semapv:UnspecifiedMatching MONDO:0003271 iodine hypothyroidism skos:exactMatch UMLS:C0154159 semapv:UnspecifiedMatching MONDO:0003272 mixed epithelial stromal tumor skos:exactMatch DOID:5088 mixed epithelial stromal tumour semapv:UnspecifiedMatching MONDO:0003273 sternum cancer skos:exactMatch DOID:5090 sternum cancer semapv:UnspecifiedMatching MONDO:0003273 sternum cancer skos:exactMatch MEDGEN:277996 semapv:UnspecifiedMatching MONDO:0003273 sternum cancer skos:exactMatch NCIT:C8408 Malignant Sternal Neoplasm semapv:UnspecifiedMatching MONDO:0003273 sternum cancer skos:exactMatch UMLS:C1382025 semapv:UnspecifiedMatching MONDO:0003274 thoracic cancer skos:exactMatch DOID:5093 thoracic cancer semapv:UnspecifiedMatching MONDO:0003274 thoracic cancer skos:exactMatch ICD10CM:C76.1 Malignant neoplasm of thorax semapv:UnspecifiedMatching MONDO:0003274 thoracic cancer skos:exactMatch MEDGEN:56320 semapv:UnspecifiedMatching MONDO:0003274 thoracic cancer skos:exactMatch NCIT:C3576 Malignant Thoracic Neoplasm semapv:UnspecifiedMatching MONDO:0003274 thoracic cancer skos:exactMatch SCTID:188361007 semapv:UnspecifiedMatching MONDO:0003274 thoracic cancer skos:exactMatch UMLS:C0153661 semapv:UnspecifiedMatching MONDO:0003275 middle ear cancer skos:exactMatch DOID:5099 middle ear cancer semapv:UnspecifiedMatching MONDO:0003275 middle ear cancer skos:exactMatch ICD10CM:C30.1 Malignant neoplasm of middle ear semapv:UnspecifiedMatching MONDO:0003275 middle ear cancer skos:exactMatch MEDGEN:99218 semapv:UnspecifiedMatching MONDO:0003275 middle ear cancer skos:exactMatch NCIT:C4765 Malignant Middle Ear Neoplasm semapv:UnspecifiedMatching MONDO:0003275 middle ear cancer skos:exactMatch SCTID:363359008 semapv:UnspecifiedMatching MONDO:0003275 middle ear cancer skos:exactMatch UMLS:C0496788 semapv:UnspecifiedMatching MONDO:0003276 middle ear disorder skos:exactMatch DOID:5100 middle ear disease semapv:UnspecifiedMatching MONDO:0003276 middle ear disorder skos:exactMatch ICD10CM:H65-H75 Diseases of middle ear and mastoid (H65-H75) semapv:UnspecifiedMatching MONDO:0003276 middle ear disorder skos:exactMatch MEDGEN:124401 semapv:UnspecifiedMatching MONDO:0003276 middle ear disorder skos:exactMatch NCIT:C27065 Middle Ear Disorder semapv:UnspecifiedMatching MONDO:0003276 middle ear disorder skos:exactMatch SCTID:68996008 semapv:UnspecifiedMatching MONDO:0003276 middle ear disorder skos:exactMatch UMLS:C0271428 semapv:UnspecifiedMatching MONDO:0003277 malignant ear neoplasm skos:exactMatch DOID:5101 ear cancer semapv:UnspecifiedMatching MONDO:0003277 malignant ear neoplasm skos:exactMatch MEDGEN:418247 semapv:UnspecifiedMatching MONDO:0003277 malignant ear neoplasm skos:exactMatch NCIT:C9337 Malignant Ear Neoplasm semapv:UnspecifiedMatching MONDO:0003277 malignant ear neoplasm skos:exactMatch SCTID:443648003 semapv:UnspecifiedMatching MONDO:0003277 malignant ear neoplasm skos:exactMatch UMLS:C2350059 semapv:UnspecifiedMatching MONDO:0003277 malignant ear neoplasm skos:exactMatch mesh:D004428 semapv:UnspecifiedMatching MONDO:0003278 inner ear cancer skos:exactMatch DOID:5102 inner ear cancer semapv:UnspecifiedMatching MONDO:0003279 testicular infarct skos:exactMatch DOID:5104 testicular infarct semapv:UnspecifiedMatching MONDO:0003279 testicular infarct skos:exactMatch MEDGEN:95919 semapv:UnspecifiedMatching MONDO:0003279 testicular infarct skos:exactMatch NCIT:C27617 Testicular Infarction semapv:UnspecifiedMatching MONDO:0003279 testicular infarct skos:exactMatch SCTID:33793000 semapv:UnspecifiedMatching MONDO:0003279 testicular infarct skos:exactMatch UMLS:C0392041 semapv:UnspecifiedMatching MONDO:0003280 swayback skos:exactMatch DOID:5112 copper deficiency myelopathy semapv:UnspecifiedMatching MONDO:0003280 swayback skos:exactMatch SCTID:61960001 semapv:UnspecifiedMatching MONDO:0003280 swayback skos:exactMatch mesh:D013540 semapv:UnspecifiedMatching MONDO:0003281 ovarian cystic teratoma skos:exactMatch DOID:5118 ovarian cystic teratoma semapv:UnspecifiedMatching MONDO:0003281 ovarian cystic teratoma skos:exactMatch MEDGEN:235415 semapv:UnspecifiedMatching MONDO:0003281 ovarian cystic teratoma skos:exactMatch NCIT:C7283 Ovarian Cystic Teratoma semapv:UnspecifiedMatching MONDO:0003281 ovarian cystic teratoma skos:exactMatch UMLS:C1335155 semapv:UnspecifiedMatching MONDO:0003282 ovarian cyst skos:exactMatch DOID:5119 ovarian cyst semapv:UnspecifiedMatching MONDO:0003282 ovarian cyst skos:exactMatch MEDGEN:14540 semapv:UnspecifiedMatching MONDO:0003282 ovarian cyst skos:exactMatch SCTID:79883001 semapv:UnspecifiedMatching MONDO:0003282 ovarian cyst skos:exactMatch UMLS:C0029927 semapv:UnspecifiedMatching MONDO:0003282 ovarian cyst skos:exactMatch mesh:D010048 semapv:UnspecifiedMatching MONDO:0003283 epididymal neoplasm skos:exactMatch DOID:512 epididymal neoplasm semapv:UnspecifiedMatching MONDO:0003283 epididymal neoplasm skos:exactMatch MEDGEN:138047 semapv:UnspecifiedMatching MONDO:0003283 epididymal neoplasm skos:exactMatch NCIT:C39958 Epididymal Neoplasm semapv:UnspecifiedMatching MONDO:0003283 epididymal neoplasm skos:exactMatch SCTID:126902008 semapv:UnspecifiedMatching MONDO:0003283 epididymal neoplasm skos:exactMatch UMLS:C0346239 semapv:UnspecifiedMatching MONDO:0003284 mediastinum leiomyoma skos:exactMatch DOID:5123 mediastinum leiomyoma semapv:UnspecifiedMatching MONDO:0003284 mediastinum leiomyoma skos:exactMatch MEDGEN:277350 semapv:UnspecifiedMatching MONDO:0003284 mediastinum leiomyoma skos:exactMatch NCIT:C6598 Mediastinal Leiomyoma semapv:UnspecifiedMatching MONDO:0003284 mediastinum leiomyoma skos:exactMatch UMLS:C1334659 semapv:UnspecifiedMatching MONDO:0003285 fallopian tube leiomyoma skos:exactMatch DOID:5124 fallopian tube leiomyoma semapv:UnspecifiedMatching MONDO:0003285 fallopian tube leiomyoma skos:exactMatch MEDGEN:309126 semapv:UnspecifiedMatching MONDO:0003285 fallopian tube leiomyoma skos:exactMatch NCIT:C40127 Fallopian Tube Leiomyoma semapv:UnspecifiedMatching MONDO:0003285 fallopian tube leiomyoma skos:exactMatch UMLS:C1517115 semapv:UnspecifiedMatching MONDO:0003286 extrahepatic bile duct leiomyoma skos:exactMatch DOID:5125 extrahepatic bile duct leiomyoma semapv:UnspecifiedMatching MONDO:0003286 extrahepatic bile duct leiomyoma skos:exactMatch MEDGEN:232169 semapv:UnspecifiedMatching MONDO:0003286 extrahepatic bile duct leiomyoma skos:exactMatch NCIT:C5855 Extrahepatic Bile Duct Leiomyoma semapv:UnspecifiedMatching MONDO:0003286 extrahepatic bile duct leiomyoma skos:exactMatch UMLS:C1333507 semapv:UnspecifiedMatching MONDO:0003287 central nervous system leiomyoma skos:exactMatch DOID:5126 central nervous system leiomyoma semapv:UnspecifiedMatching MONDO:0003287 central nervous system leiomyoma skos:exactMatch MEDGEN:232695 semapv:UnspecifiedMatching MONDO:0003287 central nervous system leiomyoma skos:exactMatch NCIT:C6998 Central Nervous System Leiomyoma semapv:UnspecifiedMatching MONDO:0003287 central nervous system leiomyoma skos:exactMatch UMLS:C1334382 semapv:UnspecifiedMatching MONDO:0003288 bizarre leiomyoma skos:exactMatch DOID:5127 bizarre leiomyoma semapv:UnspecifiedMatching MONDO:0003288 bizarre leiomyoma skos:exactMatch MEDGEN:90789 semapv:UnspecifiedMatching MONDO:0003288 bizarre leiomyoma skos:exactMatch NCIT:C4257 Bizarre Leiomyoma semapv:UnspecifiedMatching MONDO:0003288 bizarre leiomyoma skos:exactMatch UMLS:C0334478 semapv:UnspecifiedMatching MONDO:0003289 deep leiomyoma skos:exactMatch DOID:5128 deep leiomyoma semapv:UnspecifiedMatching MONDO:0003289 deep leiomyoma skos:exactMatch MEDGEN:234195 semapv:UnspecifiedMatching MONDO:0003289 deep leiomyoma skos:exactMatch NCIT:C6512 Deep Leiomyoma semapv:UnspecifiedMatching MONDO:0003289 deep leiomyoma skos:exactMatch UMLS:C1333266 semapv:UnspecifiedMatching MONDO:0003290 simple partial epilepsy skos:exactMatch DOID:5129 simple partial epilepsy semapv:UnspecifiedMatching MONDO:0003291 leiomyoma cutis skos:exactMatch DOID:5132 leiomyoma cutis semapv:UnspecifiedMatching MONDO:0003291 leiomyoma cutis skos:exactMatch MEDGEN:87533 semapv:UnspecifiedMatching MONDO:0003291 leiomyoma cutis skos:exactMatch NCIT:C4482 Skin Leiomyoma semapv:UnspecifiedMatching MONDO:0003291 leiomyoma cutis skos:exactMatch SCTID:254767008 semapv:UnspecifiedMatching MONDO:0003291 leiomyoma cutis skos:exactMatch UMLS:C0346064 semapv:UnspecifiedMatching MONDO:0003292 anus leiomyoma skos:exactMatch DOID:5134 anus leiomyoma semapv:UnspecifiedMatching MONDO:0003292 anus leiomyoma skos:exactMatch MEDGEN:231369 semapv:UnspecifiedMatching MONDO:0003292 anus leiomyoma skos:exactMatch NCIT:C5608 Anal Leiomyoma semapv:UnspecifiedMatching MONDO:0003292 anus leiomyoma skos:exactMatch UMLS:C1332266 semapv:UnspecifiedMatching MONDO:0003293 lung leiomyoma skos:exactMatch DOID:5136 lung leiomyoma semapv:UnspecifiedMatching MONDO:0003293 lung leiomyoma skos:exactMatch MEDGEN:232710 semapv:UnspecifiedMatching MONDO:0003293 lung leiomyoma skos:exactMatch NCIT:C5660 Lung Leiomyoma semapv:UnspecifiedMatching MONDO:0003293 lung leiomyoma skos:exactMatch SCTID:707374005 semapv:UnspecifiedMatching MONDO:0003293 lung leiomyoma skos:exactMatch UMLS:C1334447 semapv:UnspecifiedMatching MONDO:0003294 pericardium leiomyoma skos:exactMatch DOID:5137 pericardium leiomyoma semapv:UnspecifiedMatching MONDO:0003294 pericardium leiomyoma skos:exactMatch MEDGEN:233321 semapv:UnspecifiedMatching MONDO:0003294 pericardium leiomyoma skos:exactMatch NCIT:C6743 Pericardial Leiomyoma semapv:UnspecifiedMatching MONDO:0003294 pericardium leiomyoma skos:exactMatch UMLS:C1335380 semapv:UnspecifiedMatching MONDO:0003295 leiomyomatosis skos:exactMatch DOID:5138 leiomyomatosis semapv:UnspecifiedMatching MONDO:0003295 leiomyomatosis skos:exactMatch MEDGEN:60203 semapv:UnspecifiedMatching MONDO:0003295 leiomyomatosis skos:exactMatch NCIT:C3748 Leiomyomatosis semapv:UnspecifiedMatching MONDO:0003295 leiomyomatosis skos:exactMatch UMLS:C0206654 semapv:UnspecifiedMatching MONDO:0003295 leiomyomatosis skos:exactMatch mesh:D018231 semapv:UnspecifiedMatching MONDO:0003296 cellular leiomyoma skos:exactMatch DOID:5139 cellular leiomyoma semapv:UnspecifiedMatching MONDO:0003296 cellular leiomyoma skos:exactMatch MEDGEN:83155 semapv:UnspecifiedMatching MONDO:0003296 cellular leiomyoma skos:exactMatch NCIT:C4256 Cellular Leiomyoma semapv:UnspecifiedMatching MONDO:0003296 cellular leiomyoma skos:exactMatch UMLS:C0334477 semapv:UnspecifiedMatching MONDO:0003297 gallbladder leiomyoma skos:exactMatch DOID:5140 gallbladder leiomyoma semapv:UnspecifiedMatching MONDO:0003297 gallbladder leiomyoma skos:exactMatch MEDGEN:234290 semapv:UnspecifiedMatching MONDO:0003297 gallbladder leiomyoma skos:exactMatch NCIT:C5747 Gallbladder Leiomyoma semapv:UnspecifiedMatching MONDO:0003297 gallbladder leiomyoma skos:exactMatch UMLS:C1333745 semapv:UnspecifiedMatching MONDO:0003298 vulvar leiomyoma skos:exactMatch DOID:5142 vulvar leiomyoma semapv:UnspecifiedMatching MONDO:0003298 vulvar leiomyoma skos:exactMatch MEDGEN:274417 semapv:UnspecifiedMatching MONDO:0003298 vulvar leiomyoma skos:exactMatch NCIT:C40326 Vulvar Leiomyoma semapv:UnspecifiedMatching MONDO:0003298 vulvar leiomyoma skos:exactMatch UMLS:C1520087 semapv:UnspecifiedMatching MONDO:0003299 colorectal leiomyoma skos:exactMatch DOID:5143 large bowel leiomyoma semapv:UnspecifiedMatching MONDO:0003299 colorectal leiomyoma skos:exactMatch MEDGEN:272497 semapv:UnspecifiedMatching MONDO:0003299 colorectal leiomyoma skos:exactMatch NCIT:C5677 Colorectal Leiomyoma semapv:UnspecifiedMatching MONDO:0003299 colorectal leiomyoma skos:exactMatch UMLS:C1333113 semapv:UnspecifiedMatching MONDO:0003300 appendix leiomyoma skos:exactMatch DOID:5146 appendix leiomyoma semapv:UnspecifiedMatching MONDO:0003300 appendix leiomyoma skos:exactMatch MEDGEN:231077 semapv:UnspecifiedMatching MONDO:0003300 appendix leiomyoma skos:exactMatch NCIT:C5514 Appendix Leiomyoma semapv:UnspecifiedMatching MONDO:0003300 appendix leiomyoma skos:exactMatch UMLS:C1332327 semapv:UnspecifiedMatching MONDO:0003300 appendix leiomyoma skos:exactMatch icd11.foundation:1952682533 Leiomyoma of appendix semapv:UnspecifiedMatching MONDO:0003301 dartoic leiomyoma skos:exactMatch DOID:5147 dartoic leiomyoma semapv:UnspecifiedMatching MONDO:0003301 dartoic leiomyoma skos:exactMatch MEDGEN:91078 semapv:UnspecifiedMatching MONDO:0003301 dartoic leiomyoma skos:exactMatch NCIT:C4483 Dartoic Leiomyoma semapv:UnspecifiedMatching MONDO:0003301 dartoic leiomyoma skos:exactMatch SCTID:254770007 semapv:UnspecifiedMatching MONDO:0003301 dartoic leiomyoma skos:exactMatch UMLS:C0346066 semapv:UnspecifiedMatching MONDO:0003302 epithelioid neurofibroma skos:exactMatch DOID:5149 epithelioid neurofibroma semapv:UnspecifiedMatching MONDO:0003302 epithelioid neurofibroma skos:exactMatch MEDGEN:226902 semapv:UnspecifiedMatching MONDO:0003302 epithelioid neurofibroma skos:exactMatch NCIT:C6558 Epithelioid Neurofibroma semapv:UnspecifiedMatching MONDO:0003302 epithelioid neurofibroma skos:exactMatch SCTID:404032008 semapv:UnspecifiedMatching MONDO:0003302 epithelioid neurofibroma skos:exactMatch UMLS:C1275264 semapv:UnspecifiedMatching MONDO:0003303 neurofibroma of gallbladder skos:exactMatch DOID:5150 neurofibroma of gallbladder semapv:UnspecifiedMatching MONDO:0003303 neurofibroma of gallbladder skos:exactMatch MEDGEN:232540 semapv:UnspecifiedMatching MONDO:0003303 neurofibroma of gallbladder skos:exactMatch NCIT:C5746 Gallbladder Neurofibroma semapv:UnspecifiedMatching MONDO:0003303 neurofibroma of gallbladder skos:exactMatch UMLS:C1333751 semapv:UnspecifiedMatching MONDO:0003304 plexiform neurofibroma skos:exactMatch DOID:5151 plexiform neurofibroma semapv:UnspecifiedMatching MONDO:0003304 plexiform neurofibroma skos:exactMatch MEDGEN:64640 semapv:UnspecifiedMatching MONDO:0003304 plexiform neurofibroma skos:exactMatch NCIT:C3797 Plexiform Neurofibroma semapv:UnspecifiedMatching MONDO:0003304 plexiform neurofibroma skos:exactMatch SCTID:403818001 semapv:UnspecifiedMatching MONDO:0003304 plexiform neurofibroma skos:exactMatch UMLS:C0206728 semapv:UnspecifiedMatching MONDO:0003304 plexiform neurofibroma skos:exactMatch mesh:D018318 semapv:UnspecifiedMatching MONDO:0003305 cellular neurofibroma skos:exactMatch DOID:5152 cellular neurofibroma semapv:UnspecifiedMatching MONDO:0003305 cellular neurofibroma skos:exactMatch MEDGEN:275699 semapv:UnspecifiedMatching MONDO:0003305 cellular neurofibroma skos:exactMatch NCIT:C41427 Cellular Neurofibroma semapv:UnspecifiedMatching MONDO:0003305 cellular neurofibroma skos:exactMatch UMLS:C1516371 semapv:UnspecifiedMatching MONDO:0003306 atypical neurofibroma skos:exactMatch DOID:5153 atypical neurofibroma semapv:UnspecifiedMatching MONDO:0003306 atypical neurofibroma skos:exactMatch MEDGEN:267320 semapv:UnspecifiedMatching MONDO:0003306 atypical neurofibroma skos:exactMatch NCIT:C41426 Neurofibroma with Atypia semapv:UnspecifiedMatching MONDO:0003306 atypical neurofibroma skos:exactMatch UMLS:C1510961 semapv:UnspecifiedMatching MONDO:0003307 multiple mucosal neuroma skos:exactMatch DOID:5155 multiple mucosal neuroma semapv:UnspecifiedMatching MONDO:0003307 multiple mucosal neuroma skos:exactMatch MEDGEN:233722 semapv:UnspecifiedMatching MONDO:0003307 multiple mucosal neuroma skos:exactMatch NCIT:C6559 Mucosal Neuroma semapv:UnspecifiedMatching MONDO:0003307 multiple mucosal neuroma skos:exactMatch UMLS:C1334828 semapv:UnspecifiedMatching MONDO:0003308 pleural mesothelioma skos:exactMatch DOID:5157 benign pleural mesothelioma semapv:UnspecifiedMatching MONDO:0003308 pleural mesothelioma skos:exactMatch EFO:1000485 semapv:UnspecifiedMatching MONDO:0003308 pleural mesothelioma skos:exactMatch ICD10CM:C45.0 Mesothelioma of pleura semapv:UnspecifiedMatching MONDO:0003308 pleural mesothelioma skos:exactMatch MEDGEN:237179 semapv:UnspecifiedMatching MONDO:0003308 pleural mesothelioma skos:exactMatch NCIT:C9351 Pleural Mesothelial Neoplasm semapv:UnspecifiedMatching MONDO:0003308 pleural mesothelioma skos:exactMatch SCTID:109372009 semapv:UnspecifiedMatching MONDO:0003308 pleural mesothelioma skos:exactMatch UMLS:C1377913 semapv:UnspecifiedMatching MONDO:0003310 Monckeberg arteriosclerosis skos:exactMatch DOID:5161 Monckeberg arteriosclerosis semapv:UnspecifiedMatching MONDO:0003310 Monckeberg arteriosclerosis skos:exactMatch MEDGEN:165784 semapv:UnspecifiedMatching MONDO:0003310 Monckeberg arteriosclerosis skos:exactMatch NCIT:C35770 Monckeberg Arteriosclerosis semapv:UnspecifiedMatching MONDO:0003310 Monckeberg arteriosclerosis skos:exactMatch UMLS:C0887866 semapv:UnspecifiedMatching MONDO:0003311 endometrial stromal tumor skos:exactMatch DOID:5166 endometrial stromal tumor semapv:UnspecifiedMatching MONDO:0003311 endometrial stromal tumor skos:exactMatch EFO:1000920 semapv:UnspecifiedMatching MONDO:0003311 endometrial stromal tumor skos:exactMatch MEDGEN:87280 semapv:UnspecifiedMatching MONDO:0003311 endometrial stromal tumor skos:exactMatch SCTID:446887007 semapv:UnspecifiedMatching MONDO:0003311 endometrial stromal tumor skos:exactMatch UMLS:C0334695 semapv:UnspecifiedMatching MONDO:0003311 endometrial stromal tumor skos:exactMatch mesh:D036821 semapv:UnspecifiedMatching MONDO:0003312 ovarian endometrioid stromal and related neoplasms skos:exactMatch DOID:5169 ovarian endometrioid stromal sarcoma semapv:UnspecifiedMatching MONDO:0003312 ovarian endometrioid stromal and related neoplasms skos:exactMatch MEDGEN:926076 semapv:UnspecifiedMatching MONDO:0003312 ovarian endometrioid stromal and related neoplasms skos:exactMatch NCIT:C40065 Ovarian Endometrioid Stromal and Related Neoplasms semapv:UnspecifiedMatching MONDO:0003312 ovarian endometrioid stromal and related neoplasms skos:exactMatch UMLS:C4288544 semapv:UnspecifiedMatching MONDO:0003313 endometrioid stromal sarcoma of the vagina skos:exactMatch DOID:5170 vaginal endometrial stromal sarcoma semapv:UnspecifiedMatching MONDO:0003313 endometrioid stromal sarcoma of the vagina skos:exactMatch MEDGEN:770969 semapv:UnspecifiedMatching MONDO:0003313 endometrioid stromal sarcoma of the vagina skos:exactMatch NCIT:C40270 Endometrioid Stromal Sarcoma of the Vagina semapv:UnspecifiedMatching MONDO:0003313 endometrioid stromal sarcoma of the vagina skos:exactMatch UMLS:C3642329 semapv:UnspecifiedMatching MONDO:0003314 endometrioid stromal and related neoplasms of the vagina skos:exactMatch DOID:5171 vaginal endometrial stromal tumor semapv:UnspecifiedMatching MONDO:0003314 endometrioid stromal and related neoplasms of the vagina skos:exactMatch MEDGEN:927117 semapv:UnspecifiedMatching MONDO:0003314 endometrioid stromal and related neoplasms of the vagina skos:exactMatch NCIT:C40269 Vaginal Endometrioid Stromal and Related Neoplasms semapv:UnspecifiedMatching MONDO:0003314 endometrioid stromal and related neoplasms of the vagina skos:exactMatch UMLS:C4289585 semapv:UnspecifiedMatching MONDO:0003315 endometrium carcinoma in situ skos:exactMatch DOID:5172 endometrium carcinoma in situ semapv:UnspecifiedMatching MONDO:0003315 endometrium carcinoma in situ skos:exactMatch ICD10CM:D07.0 Carcinoma in situ of endometrium semapv:UnspecifiedMatching MONDO:0003315 endometrium carcinoma in situ skos:exactMatch MEDGEN:87545 semapv:UnspecifiedMatching MONDO:0003315 endometrium carcinoma in situ skos:exactMatch SCTID:92582009 semapv:UnspecifiedMatching MONDO:0003315 endometrium carcinoma in situ skos:exactMatch UMLS:C0346191 semapv:UnspecifiedMatching MONDO:0003316 nonanaplastic kidney Wilms tumor skos:exactMatch MEDGEN:277434 semapv:UnspecifiedMatching MONDO:0003316 nonanaplastic kidney Wilms tumor skos:exactMatch NCIT:C6951 Nonanaplastic Kidney Wilms Tumor semapv:UnspecifiedMatching MONDO:0003316 nonanaplastic kidney Wilms tumor skos:exactMatch UMLS:C1335062 semapv:UnspecifiedMatching MONDO:0003317 metachronous kidney Wilms' tumor skos:exactMatch DOID:5178 metachronous kidney Wilms' tumor semapv:UnspecifiedMatching MONDO:0003317 metachronous kidney Wilms' tumor skos:exactMatch MEDGEN:233696 semapv:UnspecifiedMatching MONDO:0003317 metachronous kidney Wilms' tumor skos:exactMatch NCIT:C38158 Metachronous Kidney Wilms Tumor semapv:UnspecifiedMatching MONDO:0003317 metachronous kidney Wilms' tumor skos:exactMatch UMLS:C1334705 semapv:UnspecifiedMatching MONDO:0003318 mixed cell type kidney Wilms' tumor skos:exactMatch DOID:5179 mixed cell type kidney Wilms' tumor semapv:UnspecifiedMatching MONDO:0003318 mixed cell type kidney Wilms' tumor skos:exactMatch MEDGEN:76001 semapv:UnspecifiedMatching MONDO:0003318 mixed cell type kidney Wilms' tumor skos:exactMatch NCIT:C9149 Mixed Cell Type Kidney Wilms Tumor semapv:UnspecifiedMatching MONDO:0003318 mixed cell type kidney Wilms' tumor skos:exactMatch UMLS:C0279611 semapv:UnspecifiedMatching MONDO:0003319 scrotum neoplasm skos:exactMatch DOID:518 scrotum neoplasm semapv:UnspecifiedMatching MONDO:0003319 scrotum neoplasm skos:exactMatch MEDGEN:83328 semapv:UnspecifiedMatching MONDO:0003319 scrotum neoplasm skos:exactMatch NCIT:C4380 Scrotal Neoplasm semapv:UnspecifiedMatching MONDO:0003319 scrotum neoplasm skos:exactMatch SCTID:126905005 semapv:UnspecifiedMatching MONDO:0003319 scrotum neoplasm skos:exactMatch UMLS:C0341790 semapv:UnspecifiedMatching MONDO:0003320 blastema predominant kidney Wilms tumor skos:exactMatch DOID:5182 blastema predominant kidney Wilms' tumor semapv:UnspecifiedMatching MONDO:0003320 blastema predominant kidney Wilms tumor skos:exactMatch MEDGEN:83528 semapv:UnspecifiedMatching MONDO:0003320 blastema predominant kidney Wilms tumor skos:exactMatch NCIT:C9147 Blastema Predominant Kidney Wilms Tumor semapv:UnspecifiedMatching MONDO:0003320 blastema predominant kidney Wilms tumor skos:exactMatch UMLS:C0279609 semapv:UnspecifiedMatching MONDO:0003321 hereditary Wilms tumor skos:exactMatch DOID:5183 hereditary Wilms' tumor semapv:UnspecifiedMatching MONDO:0003321 hereditary Wilms tumor skos:exactMatch MEDGEN:146190 semapv:UnspecifiedMatching MONDO:0003321 hereditary Wilms tumor skos:exactMatch NCIT:C8496 Hereditary Kidney Wilms Tumor semapv:UnspecifiedMatching MONDO:0003321 hereditary Wilms tumor skos:exactMatch OMIMPS:194070 Wilms tumor semapv:UnspecifiedMatching MONDO:0003321 hereditary Wilms tumor skos:exactMatch UMLS:C0677779 semapv:UnspecifiedMatching MONDO:0003322 epithelial predominant Wilms' tumor skos:exactMatch DOID:5189 epithelial predominant Wilms' tumor semapv:UnspecifiedMatching MONDO:0003322 epithelial predominant Wilms' tumor skos:exactMatch MEDGEN:76000 semapv:UnspecifiedMatching MONDO:0003322 epithelial predominant Wilms' tumor skos:exactMatch NCIT:C9146 Epithelial Predominant Kidney Wilms Tumor semapv:UnspecifiedMatching MONDO:0003322 epithelial predominant Wilms' tumor skos:exactMatch UMLS:C0279608 semapv:UnspecifiedMatching MONDO:0003325 nodular ganglioneuroblastoma skos:exactMatch DOID:5193 nodular ganglioneuroblastoma semapv:UnspecifiedMatching MONDO:0003325 nodular ganglioneuroblastoma skos:exactMatch MEDGEN:309203 semapv:UnspecifiedMatching MONDO:0003325 nodular ganglioneuroblastoma skos:exactMatch NCIT:C42058 Ganglioneuroblastoma, Nodular semapv:UnspecifiedMatching MONDO:0003325 nodular ganglioneuroblastoma skos:exactMatch UMLS:C1517445 semapv:UnspecifiedMatching MONDO:0003326 intermixed schwannian stroma-rich ganglioneuroblastoma skos:exactMatch DOID:5194 intermixed schwannian stroma-rich ganglioneuroblastoma semapv:UnspecifiedMatching MONDO:0003326 intermixed schwannian stroma-rich ganglioneuroblastoma skos:exactMatch MEDGEN:274565 semapv:UnspecifiedMatching MONDO:0003326 intermixed schwannian stroma-rich ganglioneuroblastoma skos:exactMatch NCIT:C42057 Ganglioneuroblastoma, Intermixed semapv:UnspecifiedMatching MONDO:0003326 intermixed schwannian stroma-rich ganglioneuroblastoma skos:exactMatch UMLS:C1517444 semapv:UnspecifiedMatching MONDO:0003327 peripheral ganglioneuroblastoma skos:exactMatch DOID:5195 peripheral nervous system ganglioneuroblastoma semapv:UnspecifiedMatching MONDO:0003327 peripheral ganglioneuroblastoma skos:exactMatch MEDGEN:233850 semapv:UnspecifiedMatching MONDO:0003327 peripheral ganglioneuroblastoma skos:exactMatch NCIT:C6594 Peripheral Ganglioneuroblastoma semapv:UnspecifiedMatching MONDO:0003327 peripheral ganglioneuroblastoma skos:exactMatch UMLS:C1335387 semapv:UnspecifiedMatching MONDO:0003328 fallopian tube adenomatoid tumor skos:exactMatch DOID:5196 fallopian tube adenomatoid tumor semapv:UnspecifiedMatching MONDO:0003328 fallopian tube adenomatoid tumor skos:exactMatch MEDGEN:273291 semapv:UnspecifiedMatching MONDO:0003328 fallopian tube adenomatoid tumor skos:exactMatch NCIT:C40129 Fallopian Tube Adenomatoid Tumor semapv:UnspecifiedMatching MONDO:0003328 fallopian tube adenomatoid tumor skos:exactMatch UMLS:C1517110 semapv:UnspecifiedMatching MONDO:0003329 ureteral obstruction skos:exactMatch DOID:5199 ureteral obstruction semapv:UnspecifiedMatching MONDO:0003329 ureteral obstruction skos:exactMatch MEDGEN:12012 semapv:UnspecifiedMatching MONDO:0003329 ureteral obstruction skos:exactMatch SCTID:20018005 semapv:UnspecifiedMatching MONDO:0003329 ureteral obstruction skos:exactMatch UMLS:C0041956 semapv:UnspecifiedMatching MONDO:0003329 ureteral obstruction skos:exactMatch mesh:D014517 semapv:UnspecifiedMatching MONDO:0003330 urinary tract obstruction skos:exactMatch DOID:5200 urinary tract obstruction semapv:UnspecifiedMatching MONDO:0003330 urinary tract obstruction skos:exactMatch EFO:0009571 semapv:UnspecifiedMatching MONDO:0003330 urinary tract obstruction skos:exactMatch MEDGEN:64247 semapv:UnspecifiedMatching MONDO:0003330 urinary tract obstruction skos:exactMatch NCIT:C3675 Obstructive Uropathy semapv:UnspecifiedMatching MONDO:0003330 urinary tract obstruction skos:exactMatch SCTID:7163005 semapv:UnspecifiedMatching MONDO:0003330 urinary tract obstruction skos:exactMatch UMLS:C0178879 semapv:UnspecifiedMatching MONDO:0003331 ovarian monodermal teratoma skos:exactMatch DOID:5207 monodermal teratoma semapv:UnspecifiedMatching MONDO:0003331 ovarian monodermal teratoma skos:exactMatch MEDGEN:266265 semapv:UnspecifiedMatching MONDO:0003331 ovarian monodermal teratoma skos:exactMatch NCIT:C7286 Ovarian Monodermal Teratoma semapv:UnspecifiedMatching MONDO:0003331 ovarian monodermal teratoma skos:exactMatch UMLS:C1302569 semapv:UnspecifiedMatching MONDO:0003332 malignant struma ovarii skos:exactMatch DOID:5208 malignant struma ovarii semapv:UnspecifiedMatching MONDO:0003332 malignant struma ovarii skos:exactMatch MEDGEN:137777 semapv:UnspecifiedMatching MONDO:0003332 malignant struma ovarii skos:exactMatch NCIT:C4291 Thyroid Carcinoma Arising in Struma Ovarii semapv:UnspecifiedMatching MONDO:0003332 malignant struma ovarii skos:exactMatch UMLS:C0334525 semapv:UnspecifiedMatching MONDO:0003333 benign struma ovarii skos:exactMatch DOID:5209 obsolete benign struma ovarii semapv:UnspecifiedMatching MONDO:0003334 demyelinating polyneuropathy skos:exactMatch DOID:5214 demyelinating polyneuropathy semapv:UnspecifiedMatching MONDO:0003334 demyelinating polyneuropathy skos:exactMatch MEDGEN:82859 semapv:UnspecifiedMatching MONDO:0003334 demyelinating polyneuropathy skos:exactMatch NCIT:C27062 Demyelinating Polyneuropathy semapv:UnspecifiedMatching MONDO:0003334 demyelinating polyneuropathy skos:exactMatch SCTID:23414001 semapv:UnspecifiedMatching MONDO:0003334 demyelinating polyneuropathy skos:exactMatch UMLS:C0270922 semapv:UnspecifiedMatching MONDO:0003335 chronic polyneuropathy skos:exactMatch DOID:5221 chronic polyneuropathy semapv:UnspecifiedMatching MONDO:0003335 chronic polyneuropathy skos:exactMatch MEDGEN:223911 semapv:UnspecifiedMatching MONDO:0003335 chronic polyneuropathy skos:exactMatch NCIT:C36071 Chronic Polyneuropathy semapv:UnspecifiedMatching MONDO:0003335 chronic polyneuropathy skos:exactMatch UMLS:C1167650 semapv:UnspecifiedMatching MONDO:0003336 acute necrotizing encephalitis skos:exactMatch DOID:5222 acute necrotizing encephalitis semapv:UnspecifiedMatching MONDO:0003336 acute necrotizing encephalitis skos:exactMatch MEDGEN:83264 semapv:UnspecifiedMatching MONDO:0003336 acute necrotizing encephalitis skos:exactMatch NCIT:C35383 Acute Necrotizing Encephalitis semapv:UnspecifiedMatching MONDO:0003336 acute necrotizing encephalitis skos:exactMatch SCTID:111897007 semapv:UnspecifiedMatching MONDO:0003336 acute necrotizing encephalitis skos:exactMatch UMLS:C0338418 semapv:UnspecifiedMatching MONDO:0003337 acute hemorrhagic encephalitis skos:exactMatch DOID:5224 acute hemorrhagic encephalitis semapv:UnspecifiedMatching MONDO:0003337 acute hemorrhagic encephalitis skos:exactMatch MEDGEN:231027 semapv:UnspecifiedMatching MONDO:0003337 acute hemorrhagic encephalitis skos:exactMatch NCIT:C35796 Acute Hemorrhagic Encephalitis semapv:UnspecifiedMatching MONDO:0003337 acute hemorrhagic encephalitis skos:exactMatch UMLS:C1332149 semapv:UnspecifiedMatching MONDO:0003340 malignant glomus tumor skos:exactMatch DOID:5233 glomangiosarcoma semapv:UnspecifiedMatching MONDO:0003340 malignant glomus tumor skos:exactMatch MEDGEN:226840 semapv:UnspecifiedMatching MONDO:0003340 malignant glomus tumor skos:exactMatch NCIT:C4221 Malignant Glomus Tumor semapv:UnspecifiedMatching MONDO:0003340 malignant glomus tumor skos:exactMatch UMLS:C1266111 semapv:UnspecifiedMatching MONDO:0003341 subungual glomus tumor skos:exactMatch DOID:5236 subungual glomus tumor semapv:UnspecifiedMatching MONDO:0003341 subungual glomus tumor skos:exactMatch MEDGEN:266273 semapv:UnspecifiedMatching MONDO:0003341 subungual glomus tumor skos:exactMatch NCIT:C36079 Subungual Glomus Tumor semapv:UnspecifiedMatching MONDO:0003341 subungual glomus tumor skos:exactMatch SCTID:403973004 semapv:UnspecifiedMatching MONDO:0003341 subungual glomus tumor skos:exactMatch UMLS:C1304510 semapv:UnspecifiedMatching MONDO:0003342 benign perivascular tumor skos:exactMatch DOID:5238 benign perivascular tumor semapv:UnspecifiedMatching MONDO:0003342 benign perivascular tumor skos:exactMatch MEDGEN:231437 semapv:UnspecifiedMatching MONDO:0003342 benign perivascular tumor skos:exactMatch NCIT:C6529 Benign Pericytic Neoplasm semapv:UnspecifiedMatching MONDO:0003342 benign perivascular tumor skos:exactMatch UMLS:C1332532 semapv:UnspecifiedMatching MONDO:0003343 retinal hemangioblastoma skos:exactMatch DOID:5240 retinal hemangioblastoma semapv:UnspecifiedMatching MONDO:0003343 retinal hemangioblastoma skos:exactMatch MEDGEN:152677 semapv:UnspecifiedMatching MONDO:0003343 retinal hemangioblastoma skos:exactMatch NCIT:C39783 Retinal Hemangioblastoma semapv:UnspecifiedMatching MONDO:0003343 retinal hemangioblastoma skos:exactMatch UMLS:C0730303 semapv:UnspecifiedMatching MONDO:0003345 hilar cholangiocarcinoma skos:exactMatch DOID:4927 Klatskin's tumor semapv:UnspecifiedMatching MONDO:0003345 hilar cholangiocarcinoma skos:exactMatch EFO:1001959 semapv:UnspecifiedMatching MONDO:0003345 hilar cholangiocarcinoma skos:exactMatch MEDGEN:878855 semapv:UnspecifiedMatching MONDO:0003345 hilar cholangiocarcinoma skos:exactMatch NCIT:C36077 Hilar Cholangiocarcinoma semapv:UnspecifiedMatching MONDO:0003345 hilar cholangiocarcinoma skos:exactMatch Orphanet:99978 Perihilar cholangiocarcinoma semapv:UnspecifiedMatching MONDO:0003345 hilar cholangiocarcinoma skos:exactMatch SCTID:253017000 semapv:UnspecifiedMatching MONDO:0003345 hilar cholangiocarcinoma skos:exactMatch UMLS:C4045991 semapv:UnspecifiedMatching MONDO:0003345 hilar cholangiocarcinoma skos:exactMatch icd11.foundation:1571104786 Hilar cholangiocarcinoma semapv:UnspecifiedMatching MONDO:0003345 hilar cholangiocarcinoma skos:exactMatch mesh:D018285 semapv:UnspecifiedMatching MONDO:0003346 central nervous system vasculitis skos:exactMatch DOID:525 central nervous system vasculitis semapv:UnspecifiedMatching MONDO:0003346 central nervous system vasculitis skos:exactMatch MEDGEN:148408 semapv:UnspecifiedMatching MONDO:0003346 central nervous system vasculitis skos:exactMatch NCIT:C84622 Central Nervous System Vasculitis semapv:UnspecifiedMatching MONDO:0003346 central nervous system vasculitis skos:exactMatch UMLS:C0751878 semapv:UnspecifiedMatching MONDO:0003346 central nervous system vasculitis skos:exactMatch mesh:D020293 semapv:UnspecifiedMatching MONDO:0003347 inflammatory leiomyosarcoma skos:exactMatch DOID:5251 inflammatory leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003347 inflammatory leiomyosarcoma skos:exactMatch MEDGEN:233554 semapv:UnspecifiedMatching MONDO:0003347 inflammatory leiomyosarcoma skos:exactMatch NCIT:C27495 Inflammatory Leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003347 inflammatory leiomyosarcoma skos:exactMatch UMLS:C1334179 semapv:UnspecifiedMatching MONDO:0003348 conventional leiomyosarcoma skos:exactMatch DOID:5253 conventional leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003348 conventional leiomyosarcoma skos:exactMatch MEDGEN:232394 semapv:UnspecifiedMatching MONDO:0003348 conventional leiomyosarcoma skos:exactMatch NCIT:C9428 Conventional Leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003348 conventional leiomyosarcoma skos:exactMatch UMLS:C1333157 semapv:UnspecifiedMatching MONDO:0003349 central nervous system leiomyosarcoma skos:exactMatch DOID:5254 central nervous system leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003349 central nervous system leiomyosarcoma skos:exactMatch MEDGEN:235254 semapv:UnspecifiedMatching MONDO:0003349 central nervous system leiomyosarcoma skos:exactMatch NCIT:C6999 Central Nervous System Leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003349 central nervous system leiomyosarcoma skos:exactMatch UMLS:C1334385 semapv:UnspecifiedMatching MONDO:0003350 granular cell leiomyosarcoma skos:exactMatch DOID:5258 granular cell leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003350 granular cell leiomyosarcoma skos:exactMatch MEDGEN:234321 semapv:UnspecifiedMatching MONDO:0003350 granular cell leiomyosarcoma skos:exactMatch NCIT:C27494 Granular Cell Leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003350 granular cell leiomyosarcoma skos:exactMatch UMLS:C1333871 semapv:UnspecifiedMatching MONDO:0003351 colon leiomyosarcoma skos:exactMatch DOID:5259 colon leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003351 colon leiomyosarcoma skos:exactMatch MEDGEN:232380 semapv:UnspecifiedMatching MONDO:0003351 colon leiomyosarcoma skos:exactMatch NCIT:C5494 Colon Leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003351 colon leiomyosarcoma skos:exactMatch UMLS:C1333093 semapv:UnspecifiedMatching MONDO:0003351 colon leiomyosarcoma skos:exactMatch icd11.foundation:1612353121 Leiomyosarcoma of colon semapv:UnspecifiedMatching MONDO:0003352 colon sarcoma skos:exactMatch DOID:5260 colon sarcoma semapv:UnspecifiedMatching MONDO:0003352 colon sarcoma skos:exactMatch MEDGEN:272493 semapv:UnspecifiedMatching MONDO:0003352 colon sarcoma skos:exactMatch NCIT:C5495 Colon Sarcoma semapv:UnspecifiedMatching MONDO:0003352 colon sarcoma skos:exactMatch UMLS:C1333098 semapv:UnspecifiedMatching MONDO:0003353 heart leiomyosarcoma skos:exactMatch DOID:5261 heart leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003353 heart leiomyosarcoma skos:exactMatch MEDGEN:234095 semapv:UnspecifiedMatching MONDO:0003353 heart leiomyosarcoma skos:exactMatch NCIT:C5364 Cardiac Leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003353 heart leiomyosarcoma skos:exactMatch UMLS:C1332848 semapv:UnspecifiedMatching MONDO:0003354 heart sarcoma skos:exactMatch DOID:5262 heart sarcoma semapv:UnspecifiedMatching MONDO:0003354 heart sarcoma skos:exactMatch MEDGEN:68657 semapv:UnspecifiedMatching MONDO:0003354 heart sarcoma skos:exactMatch NCIT:C7723 Cardiac Sarcoma semapv:UnspecifiedMatching MONDO:0003354 heart sarcoma skos:exactMatch UMLS:C0238152 semapv:UnspecifiedMatching MONDO:0003355 ovary leiomyosarcoma skos:exactMatch DOID:5263 ovary leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003355 ovary leiomyosarcoma skos:exactMatch EFO:0006718 semapv:UnspecifiedMatching MONDO:0003355 ovary leiomyosarcoma skos:exactMatch MEDGEN:233275 semapv:UnspecifiedMatching MONDO:0003355 ovary leiomyosarcoma skos:exactMatch NCIT:C5234 Ovarian Leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003355 ovary leiomyosarcoma skos:exactMatch UMLS:C1335163 semapv:UnspecifiedMatching MONDO:0003356 epithelioid leiomyosarcoma skos:exactMatch DOID:5264 epithelioid leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003356 epithelioid leiomyosarcoma skos:exactMatch MEDGEN:61454 semapv:UnspecifiedMatching MONDO:0003356 epithelioid leiomyosarcoma skos:exactMatch NCIT:C3700 Epithelioid Leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003356 epithelioid leiomyosarcoma skos:exactMatch UMLS:C0205815 semapv:UnspecifiedMatching MONDO:0003357 lung leiomyosarcoma skos:exactMatch DOID:5265 lung leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003357 lung leiomyosarcoma skos:exactMatch MEDGEN:232711 semapv:UnspecifiedMatching MONDO:0003357 lung leiomyosarcoma skos:exactMatch NCIT:C5667 Lung Leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003357 lung leiomyosarcoma skos:exactMatch UMLS:C1334448 semapv:UnspecifiedMatching MONDO:0003358 anus leiomyosarcoma skos:exactMatch DOID:5267 anus leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003358 anus leiomyosarcoma skos:exactMatch MEDGEN:231370 semapv:UnspecifiedMatching MONDO:0003358 anus leiomyosarcoma skos:exactMatch NCIT:C5599 Anal Leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003358 anus leiomyosarcoma skos:exactMatch UMLS:C1332267 semapv:UnspecifiedMatching MONDO:0003359 myxoid leiomyosarcoma skos:exactMatch DOID:5268 myxoid leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003359 myxoid leiomyosarcoma skos:exactMatch MEDGEN:104725 semapv:UnspecifiedMatching MONDO:0003359 myxoid leiomyosarcoma skos:exactMatch NCIT:C3701 Myxoid Leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003359 myxoid leiomyosarcoma skos:exactMatch UMLS:C0205816 semapv:UnspecifiedMatching MONDO:0003360 small intestine leiomyosarcoma skos:exactMatch DOID:5271 small intestine leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003360 small intestine leiomyosarcoma skos:exactMatch MEDGEN:183086 semapv:UnspecifiedMatching MONDO:0003360 small intestine leiomyosarcoma skos:exactMatch NCIT:C7085 Small Intestinal Leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003360 small intestine leiomyosarcoma skos:exactMatch Orphanet:104076 Leiomyosarcoma of small intestine semapv:UnspecifiedMatching MONDO:0003360 small intestine leiomyosarcoma skos:exactMatch SCTID:716651004 semapv:UnspecifiedMatching MONDO:0003360 small intestine leiomyosarcoma skos:exactMatch UMLS:C0920305 semapv:UnspecifiedMatching MONDO:0003360 small intestine leiomyosarcoma skos:exactMatch icd11.foundation:389419378 Small intestinal leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003361 small intestinal sarcoma skos:exactMatch DOID:5272 small intestinal sarcoma semapv:UnspecifiedMatching MONDO:0003361 small intestinal sarcoma skos:exactMatch MEDGEN:233455 semapv:UnspecifiedMatching MONDO:0003361 small intestinal sarcoma skos:exactMatch NCIT:C5335 Small Intestinal Sarcoma semapv:UnspecifiedMatching MONDO:0003361 small intestinal sarcoma skos:exactMatch UMLS:C1336007 semapv:UnspecifiedMatching MONDO:0003362 cutaneous leiomyosarcoma skos:exactMatch DOID:5273 cutaneous leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003362 cutaneous leiomyosarcoma skos:exactMatch MEDGEN:87534 semapv:UnspecifiedMatching MONDO:0003362 cutaneous leiomyosarcoma skos:exactMatch NCIT:C4484 Atypical Intradermal Smooth Muscle Neoplasm semapv:UnspecifiedMatching MONDO:0003362 cutaneous leiomyosarcoma skos:exactMatch SCTID:254771006 semapv:UnspecifiedMatching MONDO:0003362 cutaneous leiomyosarcoma skos:exactMatch UMLS:C0346067 semapv:UnspecifiedMatching MONDO:0003362 cutaneous leiomyosarcoma skos:exactMatch icd11.foundation:1653448241 Cutaneous leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003363 malignant dermis tumor skos:exactMatch DOID:5274 malignant dermis tumor semapv:UnspecifiedMatching MONDO:0003363 malignant dermis tumor skos:exactMatch MEDGEN:87564 semapv:UnspecifiedMatching MONDO:0003363 malignant dermis tumor skos:exactMatch NCIT:C4574 Malignant Dermal Neoplasm semapv:UnspecifiedMatching MONDO:0003363 malignant dermis tumor skos:exactMatch SCTID:255096006 semapv:UnspecifiedMatching MONDO:0003363 malignant dermis tumor skos:exactMatch UMLS:C0346811 semapv:UnspecifiedMatching MONDO:0003364 gallbladder leiomyosarcoma skos:exactMatch DOID:5275 gallbladder leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003364 gallbladder leiomyosarcoma skos:exactMatch MEDGEN:234291 semapv:UnspecifiedMatching MONDO:0003364 gallbladder leiomyosarcoma skos:exactMatch NCIT:C5841 Gallbladder Leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003364 gallbladder leiomyosarcoma skos:exactMatch UMLS:C1333746 semapv:UnspecifiedMatching MONDO:0003365 esophagus leiomyosarcoma skos:exactMatch DOID:5276 esophagus leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003365 esophagus leiomyosarcoma skos:exactMatch MEDGEN:272589 semapv:UnspecifiedMatching MONDO:0003365 esophagus leiomyosarcoma skos:exactMatch NCIT:C5334 Esophageal Leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003365 esophagus leiomyosarcoma skos:exactMatch UMLS:C1333454 semapv:UnspecifiedMatching MONDO:0003365 esophagus leiomyosarcoma skos:exactMatch icd11.foundation:1419925892 Leiomyosarcoma of oesophagus semapv:UnspecifiedMatching MONDO:0003366 hydrarthrosis skos:exactMatch DOID:528 hydrarthrosis semapv:UnspecifiedMatching MONDO:0003366 hydrarthrosis skos:exactMatch MEDGEN:222181 semapv:UnspecifiedMatching MONDO:0003366 hydrarthrosis skos:exactMatch SCTID:387637008 semapv:UnspecifiedMatching MONDO:0003366 hydrarthrosis skos:exactMatch UMLS:C1253936 semapv:UnspecifiedMatching MONDO:0003366 hydrarthrosis skos:exactMatch mesh:D006833 semapv:UnspecifiedMatching MONDO:0003367 gastric leiomyosarcoma skos:exactMatch DOID:5280 gastric leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003367 gastric leiomyosarcoma skos:exactMatch MEDGEN:196652 semapv:UnspecifiedMatching MONDO:0003367 gastric leiomyosarcoma skos:exactMatch NCIT:C27200 Gastric Leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003367 gastric leiomyosarcoma skos:exactMatch SCTID:447785000 semapv:UnspecifiedMatching MONDO:0003367 gastric leiomyosarcoma skos:exactMatch UMLS:C0744295 semapv:UnspecifiedMatching MONDO:0003367 gastric leiomyosarcoma skos:exactMatch icd11.foundation:399434138 Leiomyosarcoma of stomach semapv:UnspecifiedMatching MONDO:0003368 prostate leiomyosarcoma skos:exactMatch DOID:5282 prostate leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003368 prostate leiomyosarcoma skos:exactMatch MEDGEN:233876 semapv:UnspecifiedMatching MONDO:0003368 prostate leiomyosarcoma skos:exactMatch NCIT:C5526 Prostate Leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003368 prostate leiomyosarcoma skos:exactMatch UMLS:C1335511 semapv:UnspecifiedMatching MONDO:0003369 vagina leiomyosarcoma skos:exactMatch DOID:5283 vagina leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003369 vagina leiomyosarcoma skos:exactMatch MEDGEN:277860 semapv:UnspecifiedMatching MONDO:0003369 vagina leiomyosarcoma skos:exactMatch NCIT:C6326 Vaginal Leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003369 vagina leiomyosarcoma skos:exactMatch UMLS:C1336940 semapv:UnspecifiedMatching MONDO:0003370 retroperitoneal leiomyosarcoma skos:exactMatch DOID:5284 retroperitoneal leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003370 retroperitoneal leiomyosarcoma skos:exactMatch MEDGEN:412162 semapv:UnspecifiedMatching MONDO:0003370 retroperitoneal leiomyosarcoma skos:exactMatch NCIT:C27904 Retroperitoneal Leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003370 retroperitoneal leiomyosarcoma skos:exactMatch UMLS:C2187547 semapv:UnspecifiedMatching MONDO:0003371 breast leiomyosarcoma skos:exactMatch DOID:5285 breast leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003371 breast leiomyosarcoma skos:exactMatch MEDGEN:234050 semapv:UnspecifiedMatching MONDO:0003371 breast leiomyosarcoma skos:exactMatch NCIT:C5186 Breast Leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003371 breast leiomyosarcoma skos:exactMatch UMLS:C1332631 semapv:UnspecifiedMatching MONDO:0003372 vulvar leiomyosarcoma skos:exactMatch DOID:5286 vulvar leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003372 vulvar leiomyosarcoma skos:exactMatch EFO:1001975 semapv:UnspecifiedMatching MONDO:0003372 vulvar leiomyosarcoma skos:exactMatch MEDGEN:378348 semapv:UnspecifiedMatching MONDO:0003372 vulvar leiomyosarcoma skos:exactMatch NCIT:C40318 Vulvar Leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003372 vulvar leiomyosarcoma skos:exactMatch UMLS:C2168304 semapv:UnspecifiedMatching MONDO:0003373 kidney leiomyosarcoma skos:exactMatch DOID:5287 kidney leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003373 kidney leiomyosarcoma skos:exactMatch MEDGEN:235545 semapv:UnspecifiedMatching MONDO:0003373 kidney leiomyosarcoma skos:exactMatch NCIT:C6183 Kidney Leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003373 kidney leiomyosarcoma skos:exactMatch UMLS:C1335743 semapv:UnspecifiedMatching MONDO:0003374 laryngeal leiomyosarcoma skos:exactMatch DOID:5288 larynx leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003374 laryngeal leiomyosarcoma skos:exactMatch MEDGEN:272791 semapv:UnspecifiedMatching MONDO:0003374 laryngeal leiomyosarcoma skos:exactMatch NCIT:C6022 Laryngeal Leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003374 laryngeal leiomyosarcoma skos:exactMatch UMLS:C1334371 semapv:UnspecifiedMatching MONDO:0003376 mediastinum leiomyosarcoma skos:exactMatch DOID:5292 mediastinum leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003376 mediastinum leiomyosarcoma skos:exactMatch MEDGEN:235310 semapv:UnspecifiedMatching MONDO:0003376 mediastinum leiomyosarcoma skos:exactMatch NCIT:C6619 Mediastinal Leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003376 mediastinum leiomyosarcoma skos:exactMatch UMLS:C1334660 semapv:UnspecifiedMatching MONDO:0003377 extrahepatic bile duct leiomyosarcoma skos:exactMatch DOID:5293 extrahepatic bile duct leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003377 extrahepatic bile duct leiomyosarcoma skos:exactMatch MEDGEN:232481 semapv:UnspecifiedMatching MONDO:0003377 extrahepatic bile duct leiomyosarcoma skos:exactMatch NCIT:C5848 Extrahepatic Bile Duct Leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003377 extrahepatic bile duct leiomyosarcoma skos:exactMatch UMLS:C1333508 semapv:UnspecifiedMatching MONDO:0003378 liver leiomyosarcoma skos:exactMatch DOID:5296 liver leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003378 liver leiomyosarcoma skos:exactMatch MEDGEN:272707 semapv:UnspecifiedMatching MONDO:0003378 liver leiomyosarcoma skos:exactMatch NCIT:C5756 Liver Leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003378 liver leiomyosarcoma skos:exactMatch UMLS:C1333969 semapv:UnspecifiedMatching MONDO:0003379 rectum leiomyosarcoma skos:exactMatch DOID:5297 rectum leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003379 rectum leiomyosarcoma skos:exactMatch MEDGEN:233391 semapv:UnspecifiedMatching MONDO:0003379 rectum leiomyosarcoma skos:exactMatch NCIT:C5549 Rectal Leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003379 rectum leiomyosarcoma skos:exactMatch UMLS:C1335683 semapv:UnspecifiedMatching MONDO:0003379 rectum leiomyosarcoma skos:exactMatch icd11.foundation:905391296 Leiomyosarcoma of rectum semapv:UnspecifiedMatching MONDO:0003381 pituitary gland disorder skos:exactMatch DOID:53 pituitary gland disease semapv:UnspecifiedMatching MONDO:0003381 pituitary gland disorder skos:exactMatch EFO:0009607 semapv:UnspecifiedMatching MONDO:0003381 pituitary gland disorder skos:exactMatch MEDGEN:45934 semapv:UnspecifiedMatching MONDO:0003381 pituitary gland disorder skos:exactMatch NCIT:C26854 Pituitary Gland Disorder semapv:UnspecifiedMatching MONDO:0003381 pituitary gland disorder skos:exactMatch SCTID:399244003 semapv:UnspecifiedMatching MONDO:0003381 pituitary gland disorder skos:exactMatch UMLS:C0032002 semapv:UnspecifiedMatching MONDO:0003381 pituitary gland disorder skos:exactMatch mesh:D010900 semapv:UnspecifiedMatching MONDO:0003382 eyelid disorder skos:exactMatch DOID:530 eyelid disease semapv:UnspecifiedMatching MONDO:0003382 eyelid disorder skos:exactMatch EFO:0009547 semapv:UnspecifiedMatching MONDO:0003382 eyelid disorder skos:exactMatch ICD10CM:H00 Hordeolum and chalazion semapv:UnspecifiedMatching MONDO:0003382 eyelid disorder skos:exactMatch MEDGEN:41938 semapv:UnspecifiedMatching MONDO:0003382 eyelid disorder skos:exactMatch NCIT:C26768 Eyelid Disorder semapv:UnspecifiedMatching MONDO:0003382 eyelid disorder skos:exactMatch SCTID:60113004 semapv:UnspecifiedMatching MONDO:0003382 eyelid disorder skos:exactMatch UMLS:C0015423 semapv:UnspecifiedMatching MONDO:0003382 eyelid disorder skos:exactMatch mesh:D005141 semapv:UnspecifiedMatching MONDO:0003383 fallopian tube clear cell adenocarcinoma skos:exactMatch DOID:5301 fallopian tube clear cell adenocarcinoma semapv:UnspecifiedMatching MONDO:0003383 fallopian tube clear cell adenocarcinoma skos:exactMatch MEDGEN:232184 semapv:UnspecifiedMatching MONDO:0003383 fallopian tube clear cell adenocarcinoma skos:exactMatch NCIT:C6280 Fallopian Tube Clear Cell Adenocarcinoma semapv:UnspecifiedMatching MONDO:0003383 fallopian tube clear cell adenocarcinoma skos:exactMatch UMLS:C1333591 semapv:UnspecifiedMatching MONDO:0003384 uterine ligament clear cell adenocarcinoma skos:exactMatch DOID:5302 uterine ligament clear cell adenocarcinoma semapv:UnspecifiedMatching MONDO:0003384 uterine ligament clear cell adenocarcinoma skos:exactMatch NCIT:C40139 Broad Ligament Clear Cell Adenocarcinoma semapv:UnspecifiedMatching MONDO:0003386 bladder clear cell adenocarcinoma skos:exactMatch DOID:5306 bladder clear cell adenocarcinoma semapv:UnspecifiedMatching MONDO:0003386 bladder clear cell adenocarcinoma skos:exactMatch MEDGEN:272370 semapv:UnspecifiedMatching MONDO:0003386 bladder clear cell adenocarcinoma skos:exactMatch NCIT:C6179 Bladder Clear Cell Adenocarcinoma semapv:UnspecifiedMatching MONDO:0003386 bladder clear cell adenocarcinoma skos:exactMatch UMLS:C1332557 semapv:UnspecifiedMatching MONDO:0003387 urethra clear cell adenocarcinoma skos:exactMatch DOID:5307 urethra clear cell adenocarcinoma semapv:UnspecifiedMatching MONDO:0003387 urethra clear cell adenocarcinoma skos:exactMatch MEDGEN:277846 semapv:UnspecifiedMatching MONDO:0003387 urethra clear cell adenocarcinoma skos:exactMatch NCIT:C6172 Urethral Clear Cell Adenocarcinoma semapv:UnspecifiedMatching MONDO:0003387 urethra clear cell adenocarcinoma skos:exactMatch UMLS:C1336886 semapv:UnspecifiedMatching MONDO:0003388 ampulla of vater clear cell adenocarcinoma skos:exactMatch DOID:5308 ampulla of Vater clear cell adenocarcinoma semapv:UnspecifiedMatching MONDO:0003388 ampulla of vater clear cell adenocarcinoma skos:exactMatch MEDGEN:233972 semapv:UnspecifiedMatching MONDO:0003388 ampulla of vater clear cell adenocarcinoma skos:exactMatch NCIT:C27414 Ampulla of Vater Clear Cell Adenocarcinoma semapv:UnspecifiedMatching MONDO:0003388 ampulla of vater clear cell adenocarcinoma skos:exactMatch UMLS:C1332246 semapv:UnspecifiedMatching MONDO:0003389 epithelial-myoepithelial carcinoma skos:exactMatch DOID:5309 epithelial-myoepithelial carcinoma semapv:UnspecifiedMatching MONDO:0003389 epithelial-myoepithelial carcinoma skos:exactMatch MEDGEN:90776 semapv:UnspecifiedMatching MONDO:0003389 epithelial-myoepithelial carcinoma skos:exactMatch NCIT:C4199 Epithelial-Myoepithelial Carcinoma semapv:UnspecifiedMatching MONDO:0003389 epithelial-myoepithelial carcinoma skos:exactMatch UMLS:C0334392 semapv:UnspecifiedMatching MONDO:0003390 glycogen-rich clear cell breast carcinoma skos:exactMatch DOID:5310 glycogen-rich clear cell breast carcinoma semapv:UnspecifiedMatching MONDO:0003390 glycogen-rich clear cell breast carcinoma skos:exactMatch MEDGEN:1785052 semapv:UnspecifiedMatching MONDO:0003390 glycogen-rich clear cell breast carcinoma skos:exactMatch NCIT:C40368 Glycogen-Rich, Clear Cell Breast Carcinoma semapv:UnspecifiedMatching MONDO:0003390 glycogen-rich clear cell breast carcinoma skos:exactMatch UMLS:C2012261 semapv:UnspecifiedMatching MONDO:0003391 vulvar alveolar soft part sarcoma skos:exactMatch DOID:5313 vulvar alveolar soft part sarcoma semapv:UnspecifiedMatching MONDO:0003391 vulvar alveolar soft part sarcoma skos:exactMatch MEDGEN:276988 semapv:UnspecifiedMatching MONDO:0003391 vulvar alveolar soft part sarcoma skos:exactMatch NCIT:C40320 Vulvar Alveolar Soft Part Sarcoma semapv:UnspecifiedMatching MONDO:0003391 vulvar alveolar soft part sarcoma skos:exactMatch UMLS:C1520069 semapv:UnspecifiedMatching MONDO:0003392 fallopian tube germ cell tumor skos:exactMatch DOID:5324 fallopian tube germ cell cancer semapv:UnspecifiedMatching MONDO:0003392 fallopian tube germ cell tumor skos:exactMatch MEDGEN:274487 semapv:UnspecifiedMatching MONDO:0003392 fallopian tube germ cell tumor skos:exactMatch NCIT:C40130 Fallopian Tube Germ Cell Tumor semapv:UnspecifiedMatching MONDO:0003392 fallopian tube germ cell tumor skos:exactMatch UMLS:C1517114 semapv:UnspecifiedMatching MONDO:0003393 thymus gland disorder skos:exactMatch DOID:533 thymus gland disease semapv:UnspecifiedMatching MONDO:0003393 thymus gland disorder skos:exactMatch MEDGEN:57585 semapv:UnspecifiedMatching MONDO:0003393 thymus gland disorder skos:exactMatch NCIT:C26962 Thymus Disorder semapv:UnspecifiedMatching MONDO:0003393 thymus gland disorder skos:exactMatch SCTID:20673009 semapv:UnspecifiedMatching MONDO:0003393 thymus gland disorder skos:exactMatch UMLS:C0154199 semapv:UnspecifiedMatching MONDO:0003394 dental pulp disorder skos:exactMatch DOID:5330 dental pulp disease semapv:UnspecifiedMatching MONDO:0003394 dental pulp disorder skos:exactMatch EFO:0009540 semapv:UnspecifiedMatching MONDO:0003394 dental pulp disorder skos:exactMatch MEDGEN:8305 semapv:UnspecifiedMatching MONDO:0003394 dental pulp disorder skos:exactMatch NCIT:C34530 Dental Pulp Disorder semapv:UnspecifiedMatching MONDO:0003394 dental pulp disorder skos:exactMatch SCTID:57203004 semapv:UnspecifiedMatching MONDO:0003394 dental pulp disorder skos:exactMatch UMLS:C0011405 semapv:UnspecifiedMatching MONDO:0003394 dental pulp disorder skos:exactMatch mesh:D003788 semapv:UnspecifiedMatching MONDO:0003395 testicular granulosa cell tumor skos:exactMatch DOID:5331 testicular granulosa cell tumor semapv:UnspecifiedMatching MONDO:0003395 testicular granulosa cell tumor skos:exactMatch MEDGEN:237001 semapv:UnspecifiedMatching MONDO:0003395 testicular granulosa cell tumor skos:exactMatch NCIT:C6357 Testicular Granulosa Cell Tumor semapv:UnspecifiedMatching MONDO:0003395 testicular granulosa cell tumor skos:exactMatch UMLS:C1336709 semapv:UnspecifiedMatching MONDO:0003396 epulis skos:exactMatch DOID:5337 epulis semapv:UnspecifiedMatching MONDO:0003396 epulis skos:exactMatch MEDGEN:82751 semapv:UnspecifiedMatching MONDO:0003396 epulis skos:exactMatch NCIT:C3948 Gingival Polyp semapv:UnspecifiedMatching MONDO:0003396 epulis skos:exactMatch SCTID:45676007 semapv:UnspecifiedMatching MONDO:0003396 epulis skos:exactMatch UMLS:C0266919 semapv:UnspecifiedMatching MONDO:0003396 epulis skos:exactMatch icd11.foundation:1849228776 Epulis semapv:UnspecifiedMatching MONDO:0003397 gingival hypertrophy skos:exactMatch DOID:5338 gingival hypertrophy semapv:UnspecifiedMatching MONDO:0003397 gingival hypertrophy skos:exactMatch MEDGEN:6603 semapv:UnspecifiedMatching MONDO:0003397 gingival hypertrophy skos:exactMatch UMLS:C0017567 semapv:UnspecifiedMatching MONDO:0003397 gingival hypertrophy skos:exactMatch mesh:D005886 semapv:UnspecifiedMatching MONDO:0003398 anterograde amnesia skos:exactMatch DOID:5340 anterograde amnesia semapv:UnspecifiedMatching MONDO:0003398 anterograde amnesia skos:exactMatch ICD10CM:R41.1 Anterograde amnesia semapv:UnspecifiedMatching MONDO:0003398 anterograde amnesia skos:exactMatch MEDGEN:115938 semapv:UnspecifiedMatching MONDO:0003398 anterograde amnesia skos:exactMatch UMLS:C0233795 semapv:UnspecifiedMatching MONDO:0003398 anterograde amnesia skos:exactMatch icd11.foundation:661071789 Anterograde amnesia semapv:UnspecifiedMatching MONDO:0003398 anterograde amnesia skos:exactMatch mesh:D020324 semapv:UnspecifiedMatching MONDO:0003399 pineal region yolk sac tumor skos:exactMatch DOID:5341 pineal region yolk sac tumor semapv:UnspecifiedMatching MONDO:0003399 pineal region yolk sac tumor skos:exactMatch MEDGEN:277518 semapv:UnspecifiedMatching MONDO:0003399 pineal region yolk sac tumor skos:exactMatch NCIT:C6752 Pineal Region Yolk Sac Tumor semapv:UnspecifiedMatching MONDO:0003399 pineal region yolk sac tumor skos:exactMatch UMLS:C1335420 semapv:UnspecifiedMatching MONDO:0003400 childhood endodermal sinus tumor skos:exactMatch DOID:5342 childhood endodermal sinus tumor semapv:UnspecifiedMatching MONDO:0003400 childhood endodermal sinus tumor skos:exactMatch MEDGEN:234139 semapv:UnspecifiedMatching MONDO:0003400 childhood endodermal sinus tumor skos:exactMatch NCIT:C27364 Childhood Yolk Sac Tumor semapv:UnspecifiedMatching MONDO:0003400 childhood endodermal sinus tumor skos:exactMatch UMLS:C1333016 semapv:UnspecifiedMatching MONDO:0003401 central nervous system endodermal sinus tumor skos:exactMatch DOID:5343 central nervous system endodermal sinus tumor semapv:UnspecifiedMatching MONDO:0003401 central nervous system endodermal sinus tumor skos:exactMatch MEDGEN:234604 semapv:UnspecifiedMatching MONDO:0003401 central nervous system endodermal sinus tumor skos:exactMatch NCIT:C6209 Childhood Central Nervous System Yolk Sac Tumor semapv:UnspecifiedMatching MONDO:0003401 central nervous system endodermal sinus tumor skos:exactMatch UMLS:C1377613 semapv:UnspecifiedMatching MONDO:0003402 testicular yolk sac tumor skos:exactMatch DOID:5344 testicular yolk sac tumor semapv:UnspecifiedMatching MONDO:0003402 testicular yolk sac tumor skos:exactMatch EFO:1000574 semapv:UnspecifiedMatching MONDO:0003402 testicular yolk sac tumor skos:exactMatch MEDGEN:79028 semapv:UnspecifiedMatching MONDO:0003402 testicular yolk sac tumor skos:exactMatch NCIT:C8000 Testicular Yolk Sac Tumor semapv:UnspecifiedMatching MONDO:0003402 testicular yolk sac tumor skos:exactMatch UMLS:C0279708 semapv:UnspecifiedMatching MONDO:0003403 testicular non-seminomatous germ cell cancer skos:exactMatch DOID:5345 testicular non-seminomatous germ cell cancer semapv:UnspecifiedMatching MONDO:0003403 testicular non-seminomatous germ cell cancer skos:exactMatch MEDGEN:233162 semapv:UnspecifiedMatching MONDO:0003403 testicular non-seminomatous germ cell cancer skos:exactMatch NCIT:C5027 Malignant Testicular Non-Seminomatous Germ Cell Tumor semapv:UnspecifiedMatching MONDO:0003403 testicular non-seminomatous germ cell cancer skos:exactMatch UMLS:C1334625 semapv:UnspecifiedMatching MONDO:0003404 adult yolk sac tumor skos:exactMatch DOID:5348 adult endodermal sinus tumor semapv:UnspecifiedMatching MONDO:0003404 adult yolk sac tumor skos:exactMatch MEDGEN:231046 semapv:UnspecifiedMatching MONDO:0003404 adult yolk sac tumor skos:exactMatch NCIT:C27241 Adult Yolk Sac Tumor semapv:UnspecifiedMatching MONDO:0003404 adult yolk sac tumor skos:exactMatch UMLS:C1332221 semapv:UnspecifiedMatching MONDO:0003405 adult central nervous system germ cell tumor skos:exactMatch DOID:5349 central nervous system adult germ cell tumor semapv:UnspecifiedMatching MONDO:0003405 adult central nervous system germ cell tumor skos:exactMatch MEDGEN:128893 semapv:UnspecifiedMatching MONDO:0003405 adult central nervous system germ cell tumor skos:exactMatch NCIT:C6285 Adult Central Nervous System Germ Cell Tumor semapv:UnspecifiedMatching MONDO:0003405 adult central nervous system germ cell tumor skos:exactMatch UMLS:C0280796 semapv:UnspecifiedMatching MONDO:0003406 sleep-wake disorder skos:exactMatch DOID:535 sleep disorder semapv:UnspecifiedMatching MONDO:0003406 sleep-wake disorder skos:exactMatch ICD10CM:G47 Sleep disorders semapv:UnspecifiedMatching MONDO:0003406 sleep-wake disorder skos:exactMatch MEDGEN:875755 semapv:UnspecifiedMatching MONDO:0003406 sleep-wake disorder skos:exactMatch SCTID:39898005 semapv:UnspecifiedMatching MONDO:0003406 sleep-wake disorder skos:exactMatch UMLS:C4042891 semapv:UnspecifiedMatching MONDO:0003406 sleep-wake disorder skos:exactMatch mesh:D012893 semapv:UnspecifiedMatching MONDO:0003408 ovarian primitive germ cell tumor skos:exactMatch DOID:5351 ovarian primitive germ cell tumor semapv:UnspecifiedMatching MONDO:0003408 ovarian primitive germ cell tumor skos:exactMatch MEDGEN:275291 semapv:UnspecifiedMatching MONDO:0003408 ovarian primitive germ cell tumor skos:exactMatch NCIT:C39986 Ovarian Primitive Germ Cell Tumor semapv:UnspecifiedMatching MONDO:0003408 ovarian primitive germ cell tumor skos:exactMatch UMLS:C1518727 semapv:UnspecifiedMatching MONDO:0003409 colonic disorder skos:exactMatch DOID:5353 colonic disease semapv:UnspecifiedMatching MONDO:0003409 colonic disorder skos:exactMatch MEDGEN:1049 semapv:UnspecifiedMatching MONDO:0003409 colonic disorder skos:exactMatch SCTID:128524007 semapv:UnspecifiedMatching MONDO:0003409 colonic disorder skos:exactMatch UMLS:C0009373 semapv:UnspecifiedMatching MONDO:0003409 colonic disorder skos:exactMatch mesh:D003108 semapv:UnspecifiedMatching MONDO:0003410 Wolffian duct adenocarcinoma skos:exactMatch DOID:5368 Wolffian duct adenocarcinoma semapv:UnspecifiedMatching MONDO:0003410 Wolffian duct adenocarcinoma skos:exactMatch MEDGEN:273908 semapv:UnspecifiedMatching MONDO:0003410 Wolffian duct adenocarcinoma skos:exactMatch NCIT:C40254 Cervical Mesonephric Adenocarcinoma semapv:UnspecifiedMatching MONDO:0003410 Wolffian duct adenocarcinoma skos:exactMatch UMLS:C1516419 semapv:UnspecifiedMatching MONDO:0003411 breast hemangiopericytoma skos:exactMatch DOID:5370 breast hemangiopericytoma semapv:UnspecifiedMatching MONDO:0003411 breast hemangiopericytoma skos:exactMatch MEDGEN:267766 semapv:UnspecifiedMatching MONDO:0003411 breast hemangiopericytoma skos:exactMatch NCIT:C40396 Breast Hemangiopericytoma semapv:UnspecifiedMatching MONDO:0003411 breast hemangiopericytoma skos:exactMatch UMLS:C1511313 semapv:UnspecifiedMatching MONDO:0003412 retroperitoneal hemangiopericytoma skos:exactMatch DOID:5373 retroperitoneal hemangiopericytoma semapv:UnspecifiedMatching MONDO:0003412 retroperitoneal hemangiopericytoma skos:exactMatch MEDGEN:277597 semapv:UnspecifiedMatching MONDO:0003412 retroperitoneal hemangiopericytoma skos:exactMatch NCIT:C5386 Retroperitoneal Hemangiopericytoma semapv:UnspecifiedMatching MONDO:0003412 retroperitoneal hemangiopericytoma skos:exactMatch UMLS:C1335777 semapv:UnspecifiedMatching MONDO:0003413 hair follicle neoplasm skos:exactMatch DOID:5375 hair follicle neoplasm semapv:UnspecifiedMatching MONDO:0003413 hair follicle neoplasm skos:exactMatch MEDGEN:167814 semapv:UnspecifiedMatching MONDO:0003413 hair follicle neoplasm skos:exactMatch NCIT:C7367 Hair Follicle Neoplasm semapv:UnspecifiedMatching MONDO:0003413 hair follicle neoplasm skos:exactMatch UMLS:C0859920 semapv:UnspecifiedMatching MONDO:0003414 skin pilomatrix carcinoma skos:exactMatch DOID:5376 skin pilomatrix carcinoma semapv:UnspecifiedMatching MONDO:0003414 skin pilomatrix carcinoma skos:exactMatch MEDGEN:108439 semapv:UnspecifiedMatching MONDO:0003414 skin pilomatrix carcinoma skos:exactMatch NCIT:C4114 Pilomatrical Carcinoma semapv:UnspecifiedMatching MONDO:0003414 skin pilomatrix carcinoma skos:exactMatch Orphanet:499182 Pilomatrix carcinoma semapv:UnspecifiedMatching MONDO:0003414 skin pilomatrix carcinoma skos:exactMatch SCTID:307610008 semapv:UnspecifiedMatching MONDO:0003414 skin pilomatrix carcinoma skos:exactMatch UMLS:C0585475 semapv:UnspecifiedMatching MONDO:0003417 internuclear ophthalmoplegia skos:exactMatch DOID:538 internuclear ophthalmoplegia semapv:UnspecifiedMatching MONDO:0003417 internuclear ophthalmoplegia skos:exactMatch ICD10CM:H51.2 Internuclear ophthalmoplegia semapv:UnspecifiedMatching MONDO:0003417 internuclear ophthalmoplegia skos:exactMatch MEDGEN:101820 semapv:UnspecifiedMatching MONDO:0003417 internuclear ophthalmoplegia skos:exactMatch SCTID:49823009 semapv:UnspecifiedMatching MONDO:0003417 internuclear ophthalmoplegia skos:exactMatch UMLS:C0152134 semapv:UnspecifiedMatching MONDO:0003417 internuclear ophthalmoplegia skos:exactMatch icd11.foundation:377040542 Internuclear ophthalmoplegia semapv:UnspecifiedMatching MONDO:0003419 Bartholin gland adenoma skos:exactMatch DOID:5382 Bartholin's gland adenoma semapv:UnspecifiedMatching MONDO:0003419 Bartholin gland adenoma skos:exactMatch MEDGEN:267025 semapv:UnspecifiedMatching MONDO:0003419 Bartholin gland adenoma skos:exactMatch NCIT:C40299 Bartholin Gland Adenoma semapv:UnspecifiedMatching MONDO:0003419 Bartholin gland adenoma skos:exactMatch UMLS:C1511048 semapv:UnspecifiedMatching MONDO:0003420 bile duct cystadenoma skos:exactMatch DOID:5384 bile duct cystadenoma semapv:UnspecifiedMatching MONDO:0003420 bile duct cystadenoma skos:exactMatch MEDGEN:90756 semapv:UnspecifiedMatching MONDO:0003420 bile duct cystadenoma skos:exactMatch NCIT:C4129 Bile Duct Mucinous Cystic Neoplasm semapv:UnspecifiedMatching MONDO:0003420 bile duct cystadenoma skos:exactMatch UMLS:C0334285 semapv:UnspecifiedMatching MONDO:0003421 mixed cell adenoma skos:exactMatch DOID:5385 mixed cell adenoma semapv:UnspecifiedMatching MONDO:0003421 mixed cell adenoma skos:exactMatch MEDGEN:83131 semapv:UnspecifiedMatching MONDO:0003421 mixed cell adenoma skos:exactMatch NCIT:C4157 Mixed Cell Adenoma semapv:UnspecifiedMatching MONDO:0003421 mixed cell adenoma skos:exactMatch UMLS:C0334323 semapv:UnspecifiedMatching MONDO:0003422 lung adenoma skos:exactMatch DOID:5386 lung adenoma semapv:UnspecifiedMatching MONDO:0003422 lung adenoma skos:exactMatch MEDGEN:83394 semapv:UnspecifiedMatching MONDO:0003422 lung adenoma skos:exactMatch NCIT:C4455 Lung Adenoma semapv:UnspecifiedMatching MONDO:0003422 lung adenoma skos:exactMatch SCTID:254642004 semapv:UnspecifiedMatching MONDO:0003422 lung adenoma skos:exactMatch UMLS:C0345964 semapv:UnspecifiedMatching MONDO:0003423 middle ear adenoma skos:exactMatch DOID:5387 middle ear adenoma semapv:UnspecifiedMatching MONDO:0003423 middle ear adenoma skos:exactMatch NCIT:C6834 Middle Ear Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO:0003423 middle ear adenoma skos:exactMatch SCTID:734078009 semapv:UnspecifiedMatching MONDO:0003424 oncocytic adenoma skos:exactMatch DOID:5389 oxyphilic adenoma semapv:UnspecifiedMatching MONDO:0003424 oncocytic adenoma skos:exactMatch EFO:1001079 semapv:UnspecifiedMatching MONDO:0003424 oncocytic adenoma skos:exactMatch MEDGEN:307150 semapv:UnspecifiedMatching MONDO:0003424 oncocytic adenoma skos:exactMatch NCIT:C3759 Oncocytic Adenoma semapv:UnspecifiedMatching MONDO:0003424 oncocytic adenoma skos:exactMatch UMLS:C1510502 semapv:UnspecifiedMatching MONDO:0003425 ophthalmoplegia skos:exactMatch DOID:539 ophthalmoplegia semapv:UnspecifiedMatching MONDO:0003425 ophthalmoplegia skos:exactMatch MEDGEN:45205 semapv:UnspecifiedMatching MONDO:0003425 ophthalmoplegia skos:exactMatch SCTID:78097002 semapv:UnspecifiedMatching MONDO:0003425 ophthalmoplegia skos:exactMatch UMLS:C0029089 semapv:UnspecifiedMatching MONDO:0003425 ophthalmoplegia skos:exactMatch icd11.foundation:1848588735 Ophthalmoplegia semapv:UnspecifiedMatching MONDO:0003425 ophthalmoplegia skos:exactMatch mesh:D009886 semapv:UnspecifiedMatching MONDO:0003426 clear cell adenoma skos:exactMatch DOID:5390 clear cell adenoma semapv:UnspecifiedMatching MONDO:0003426 clear cell adenoma skos:exactMatch MEDGEN:90761 semapv:UnspecifiedMatching MONDO:0003426 clear cell adenoma skos:exactMatch NCIT:C4151 Clear Cell Adenoma semapv:UnspecifiedMatching MONDO:0003426 clear cell adenoma skos:exactMatch UMLS:C0334315 semapv:UnspecifiedMatching MONDO:0003427 bronchus adenoma skos:exactMatch DOID:5391 bronchus adenoma semapv:UnspecifiedMatching MONDO:0003427 bronchus adenoma skos:exactMatch MEDGEN:56206 semapv:UnspecifiedMatching MONDO:0003427 bronchus adenoma skos:exactMatch NCIT:C3494 Lung Papillary Adenoma semapv:UnspecifiedMatching MONDO:0003427 bronchus adenoma skos:exactMatch UMLS:C0149845 semapv:UnspecifiedMatching MONDO:0003428 brain hemangioma skos:exactMatch DOID:5393 brain angioma semapv:UnspecifiedMatching MONDO:0003428 brain hemangioma skos:exactMatch MEDGEN:116075 semapv:UnspecifiedMatching MONDO:0003428 brain hemangioma skos:exactMatch NCIT:C7739 Brain Hemangioma semapv:UnspecifiedMatching MONDO:0003428 brain hemangioma skos:exactMatch UMLS:C0238814 semapv:UnspecifiedMatching MONDO:0003429 functioning pituitary gland adenoma skos:exactMatch DOID:5395 functioning pituitary adenoma semapv:UnspecifiedMatching MONDO:0003429 functioning pituitary gland adenoma skos:exactMatch MEDGEN:163135 semapv:UnspecifiedMatching MONDO:0003429 functioning pituitary gland adenoma skos:exactMatch NCIT:C8388 Functioning Pituitary Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO:0003429 functioning pituitary gland adenoma skos:exactMatch Orphanet:314753 Functioning pituitary adenoma semapv:UnspecifiedMatching MONDO:0003429 functioning pituitary gland adenoma skos:exactMatch UMLS:C0854486 semapv:UnspecifiedMatching MONDO:0003430 prolactin producing pituitary tumor skos:exactMatch DOID:5396 prolactin producing pituitary tumor semapv:UnspecifiedMatching MONDO:0003430 prolactin producing pituitary tumor skos:exactMatch MEDGEN:82998 semapv:UnspecifiedMatching MONDO:0003430 prolactin producing pituitary tumor skos:exactMatch UMLS:C0278863 semapv:UnspecifiedMatching MONDO:0003431 lipoadenoma skos:exactMatch DOID:5398 lipoadenoma semapv:UnspecifiedMatching MONDO:0003431 lipoadenoma skos:exactMatch MEDGEN:83133 semapv:UnspecifiedMatching MONDO:0003431 lipoadenoma skos:exactMatch NCIT:C4159 Lipoadenoma semapv:UnspecifiedMatching MONDO:0003431 lipoadenoma skos:exactMatch UMLS:C0334325 semapv:UnspecifiedMatching MONDO:0003432 strabismus skos:exactMatch DOID:540 strabismus semapv:UnspecifiedMatching MONDO:0003432 strabismus skos:exactMatch MEDGEN:21337 semapv:UnspecifiedMatching MONDO:0003432 strabismus skos:exactMatch NCIT:C35040 Strabismus semapv:UnspecifiedMatching MONDO:0003432 strabismus skos:exactMatch SCTID:22066006 semapv:UnspecifiedMatching MONDO:0003432 strabismus skos:exactMatch UMLS:C0038379 semapv:UnspecifiedMatching MONDO:0003432 strabismus skos:exactMatch mesh:D013285 semapv:UnspecifiedMatching MONDO:0003433 water-clear cell adenoma skos:exactMatch DOID:5401 water-clear cell adenoma semapv:UnspecifiedMatching MONDO:0003433 water-clear cell adenoma skos:exactMatch MEDGEN:83129 semapv:UnspecifiedMatching MONDO:0003433 water-clear cell adenoma skos:exactMatch NCIT:C4155 Parathyroid Gland Water-Clear Cell Adenoma semapv:UnspecifiedMatching MONDO:0003433 water-clear cell adenoma skos:exactMatch UMLS:C0334321 semapv:UnspecifiedMatching MONDO:0003434 vaginal adenoma skos:exactMatch DOID:5402 vaginal adenoma semapv:UnspecifiedMatching MONDO:0003434 vaginal adenoma skos:exactMatch MEDGEN:274377 semapv:UnspecifiedMatching MONDO:0003434 vaginal adenoma skos:exactMatch NCIT:C40256 Vaginal Adenoma semapv:UnspecifiedMatching MONDO:0003434 vaginal adenoma skos:exactMatch UMLS:C1519913 semapv:UnspecifiedMatching MONDO:0003435 microcystic adenoma skos:exactMatch DOID:5403 microcystic adenoma semapv:UnspecifiedMatching MONDO:0003435 microcystic adenoma skos:exactMatch MEDGEN:64420 semapv:UnspecifiedMatching MONDO:0003435 microcystic adenoma skos:exactMatch NCIT:C3685 Microcystic Adenoma semapv:UnspecifiedMatching MONDO:0003435 microcystic adenoma skos:exactMatch UMLS:C0205648 semapv:UnspecifiedMatching MONDO:0003437 occult small cell lung carcinoma skos:exactMatch DOID:5414 lung occult small cell carcinoma semapv:UnspecifiedMatching MONDO:0003437 occult small cell lung carcinoma skos:exactMatch MEDGEN:233791 semapv:UnspecifiedMatching MONDO:0003437 occult small cell lung carcinoma skos:exactMatch NCIT:C6683 Occult Lung Small Cell Carcinoma semapv:UnspecifiedMatching MONDO:0003437 occult small cell lung carcinoma skos:exactMatch UMLS:C1335099 semapv:UnspecifiedMatching MONDO:0003438 combined small cell lung carcinoma skos:exactMatch DOID:5421 lung combined type small cell carcinoma semapv:UnspecifiedMatching MONDO:0003438 combined small cell lung carcinoma skos:exactMatch MEDGEN:234167 semapv:UnspecifiedMatching MONDO:0003438 combined small cell lung carcinoma skos:exactMatch NCIT:C9137 Combined Lung Small Cell Carcinoma semapv:UnspecifiedMatching MONDO:0003438 combined small cell lung carcinoma skos:exactMatch UMLS:C1333125 semapv:UnspecifiedMatching MONDO:0003438 combined small cell lung carcinoma skos:exactMatch icd11.foundation:392248394 Combined small cell lung carcinoma semapv:UnspecifiedMatching MONDO:0003439 urinary bladder villous adenoma skos:exactMatch DOID:5427 urinary bladder villous adenoma semapv:UnspecifiedMatching MONDO:0003439 urinary bladder villous adenoma skos:exactMatch MEDGEN:234977 semapv:UnspecifiedMatching MONDO:0003439 urinary bladder villous adenoma skos:exactMatch NCIT:C7414 Bladder Villous Adenoma semapv:UnspecifiedMatching MONDO:0003439 urinary bladder villous adenoma skos:exactMatch UMLS:C1336893 semapv:UnspecifiedMatching MONDO:0003441 dystonic disorder skos:exactMatch DOID:543 dystonia semapv:UnspecifiedMatching MONDO:0003441 dystonic disorder skos:exactMatch ICD10CM:G24 Dystonia semapv:UnspecifiedMatching MONDO:0003441 dystonic disorder skos:exactMatch MEDGEN:3940 semapv:UnspecifiedMatching MONDO:0003441 dystonic disorder skos:exactMatch NCIT:C34563 Dystonia semapv:UnspecifiedMatching MONDO:0003441 dystonic disorder skos:exactMatch SCTID:15802004 semapv:UnspecifiedMatching MONDO:0003441 dystonic disorder skos:exactMatch UMLS:C0013421 semapv:UnspecifiedMatching MONDO:0003441 dystonic disorder skos:exactMatch mesh:D020821 semapv:UnspecifiedMatching MONDO:0003442 bladder papillary urothelial neoplasm skos:exactMatch DOID:5432 bladder papillary transitional cell neoplasm semapv:UnspecifiedMatching MONDO:0003442 bladder papillary urothelial neoplasm skos:exactMatch MEDGEN:267741 semapv:UnspecifiedMatching MONDO:0003442 bladder papillary urothelial neoplasm skos:exactMatch NCIT:C39857 Bladder Papillary Urothelial Neoplasm semapv:UnspecifiedMatching MONDO:0003442 bladder papillary urothelial neoplasm skos:exactMatch UMLS:C1511197 semapv:UnspecifiedMatching MONDO:0003443 papillary urothelial neoplasm skos:exactMatch DOID:5433 urinary tract papillary transitional cell benign neoplasm semapv:UnspecifiedMatching MONDO:0003443 papillary urothelial neoplasm skos:exactMatch MEDGEN:233837 semapv:UnspecifiedMatching MONDO:0003443 papillary urothelial neoplasm skos:exactMatch NCIT:C27883 Papillary Urothelial Neoplasm semapv:UnspecifiedMatching MONDO:0003443 papillary urothelial neoplasm skos:exactMatch UMLS:C1335329 semapv:UnspecifiedMatching MONDO:0003444 intrahepatic bile duct adenoma skos:exactMatch DOID:5437 intrahepatic bile duct adenoma semapv:UnspecifiedMatching MONDO:0003444 intrahepatic bile duct adenoma skos:exactMatch MEDGEN:272250 semapv:UnspecifiedMatching MONDO:0003444 intrahepatic bile duct adenoma skos:exactMatch NCIT:C7126 Intrahepatic Bile Duct Adenoma semapv:UnspecifiedMatching MONDO:0003444 intrahepatic bile duct adenoma skos:exactMatch UMLS:C1331535 semapv:UnspecifiedMatching MONDO:0003445 extrahepatic bile duct adenoma skos:exactMatch DOID:5438 extrahepatic bile duct adenoma semapv:UnspecifiedMatching MONDO:0003445 extrahepatic bile duct adenoma skos:exactMatch MEDGEN:233098 semapv:UnspecifiedMatching MONDO:0003445 extrahepatic bile duct adenoma skos:exactMatch NCIT:C5857 Extrahepatic Bile Duct Adenoma semapv:UnspecifiedMatching MONDO:0003445 extrahepatic bile duct adenoma skos:exactMatch UMLS:C1331534 semapv:UnspecifiedMatching MONDO:0003445 extrahepatic bile duct adenoma skos:exactMatch icd11.foundation:1322471141 Adenoma of extrahepatic bile duct semapv:UnspecifiedMatching MONDO:0003446 papillary hidradenoma skos:exactMatch DOID:5439 papillary hidradenoma semapv:UnspecifiedMatching MONDO:0003446 papillary hidradenoma skos:exactMatch MEDGEN:87221 semapv:UnspecifiedMatching MONDO:0003446 papillary hidradenoma skos:exactMatch NCIT:C4171 Hidradenoma Papilliferum semapv:UnspecifiedMatching MONDO:0003446 papillary hidradenoma skos:exactMatch SCTID:307597000 semapv:UnspecifiedMatching MONDO:0003446 papillary hidradenoma skos:exactMatch UMLS:C0334348 semapv:UnspecifiedMatching MONDO:0003447 clear cell hidradenoma skos:exactMatch DOID:5443 clear cell hidradenoma semapv:UnspecifiedMatching MONDO:0003447 clear cell hidradenoma skos:exactMatch MEDGEN:234584 semapv:UnspecifiedMatching MONDO:0003447 clear cell hidradenoma skos:exactMatch NCIT:C7567 Clear Cell Hidradenoma semapv:UnspecifiedMatching MONDO:0003447 clear cell hidradenoma skos:exactMatch UMLS:C1370701 semapv:UnspecifiedMatching MONDO:0003448 benign spiradenoma skos:exactMatch DOID:5444 spiradenoma semapv:UnspecifiedMatching MONDO:0003448 benign spiradenoma skos:exactMatch MEDGEN:90768 semapv:UnspecifiedMatching MONDO:0003448 benign spiradenoma skos:exactMatch NCIT:C4170 Spiradenoma semapv:UnspecifiedMatching MONDO:0003448 benign spiradenoma skos:exactMatch SCTID:403938001 semapv:UnspecifiedMatching MONDO:0003448 benign spiradenoma skos:exactMatch UMLS:C0334347 semapv:UnspecifiedMatching MONDO:0003450 eccrine papillary adenoma skos:exactMatch DOID:5446 eccrine papillary adenoma semapv:UnspecifiedMatching MONDO:0003450 eccrine papillary adenoma skos:exactMatch MEDGEN:137747 semapv:UnspecifiedMatching MONDO:0003450 eccrine papillary adenoma skos:exactMatch SCTID:253021007 semapv:UnspecifiedMatching MONDO:0003450 eccrine papillary adenoma skos:exactMatch UMLS:C0334350 semapv:UnspecifiedMatching MONDO:0003452 cochlear disorder skos:exactMatch DOID:5463 cochlear disease semapv:UnspecifiedMatching MONDO:0003452 cochlear disorder skos:exactMatch MEDGEN:1023 semapv:UnspecifiedMatching MONDO:0003452 cochlear disorder skos:exactMatch UMLS:C0009197 semapv:UnspecifiedMatching MONDO:0003452 cochlear disorder skos:exactMatch mesh:D015834 semapv:UnspecifiedMatching MONDO:0003453 conjunctival intraepithelial neoplasm skos:exactMatch DOID:5465 conjunctival intraepithelial neoplasm semapv:UnspecifiedMatching MONDO:0003453 conjunctival intraepithelial neoplasm skos:exactMatch MEDGEN:234172 semapv:UnspecifiedMatching MONDO:0003453 conjunctival intraepithelial neoplasm skos:exactMatch NCIT:C6120 Conjunctival Squamous Intraepithelial Neoplasia semapv:UnspecifiedMatching MONDO:0003453 conjunctival intraepithelial neoplasm skos:exactMatch SCTID:418134006 semapv:UnspecifiedMatching MONDO:0003453 conjunctival intraepithelial neoplasm skos:exactMatch UMLS:C1333148 semapv:UnspecifiedMatching MONDO:0003454 conjunctival cancer skos:exactMatch DOID:5467 conjunctival cancer semapv:UnspecifiedMatching MONDO:0003454 conjunctival cancer skos:exactMatch ICD10CM:C69.0 Malignant neoplasm of conjunctiva semapv:UnspecifiedMatching MONDO:0003454 conjunctival cancer skos:exactMatch MEDGEN:56316 semapv:UnspecifiedMatching MONDO:0003454 conjunctival cancer skos:exactMatch NCIT:C3564 Malignant Conjunctival Neoplasm semapv:UnspecifiedMatching MONDO:0003454 conjunctival cancer skos:exactMatch SCTID:363463000 semapv:UnspecifiedMatching MONDO:0003454 conjunctival cancer skos:exactMatch UMLS:C0153628 semapv:UnspecifiedMatching MONDO:0003454 conjunctival cancer skos:exactMatch icd11.foundation:2033444200 Malignant neoplasm of conjunctiva semapv:UnspecifiedMatching MONDO:0003455 bile duct papillary neoplasm skos:exactMatch DOID:5468 biliary papillomatosis semapv:UnspecifiedMatching MONDO:0003455 bile duct papillary neoplasm skos:exactMatch MEDGEN:360303 semapv:UnspecifiedMatching MONDO:0003455 bile duct papillary neoplasm skos:exactMatch NCIT:C6881 Bile Duct Intraductal Papillary Neoplasm semapv:UnspecifiedMatching MONDO:0003455 bile duct papillary neoplasm skos:exactMatch UMLS:C1879344 semapv:UnspecifiedMatching MONDO:0003456 obsolete bile duct mucinous cystic neoplasm skos:exactMatch DOID:5469 biliary tract intraductal papillary mucinous neoplasm semapv:UnspecifiedMatching MONDO:0003458 uterine corpus adenofibroma skos:exactMatch DOID:5475 uterine corpus adenofibroma semapv:UnspecifiedMatching MONDO:0003458 uterine corpus adenofibroma skos:exactMatch MEDGEN:277849 semapv:UnspecifiedMatching MONDO:0003458 uterine corpus adenofibroma skos:exactMatch NCIT:C6337 Uterine Corpus Adenofibroma semapv:UnspecifiedMatching MONDO:0003458 uterine corpus adenofibroma skos:exactMatch UMLS:C1336901 semapv:UnspecifiedMatching MONDO:0003459 cervical adenofibroma skos:exactMatch DOID:5476 cervical adenofibroma semapv:UnspecifiedMatching MONDO:0003459 cervical adenofibroma skos:exactMatch MEDGEN:308942 semapv:UnspecifiedMatching MONDO:0003459 cervical adenofibroma skos:exactMatch NCIT:C40230 Cervical Adenofibroma semapv:UnspecifiedMatching MONDO:0003459 cervical adenofibroma skos:exactMatch UMLS:C1516402 semapv:UnspecifiedMatching MONDO:0003460 clear cell adenofibroma skos:exactMatch DOID:5477 clear cell adenofibroma semapv:UnspecifiedMatching MONDO:0003460 clear cell adenofibroma skos:exactMatch MEDGEN:90762 semapv:UnspecifiedMatching MONDO:0003460 clear cell adenofibroma skos:exactMatch NCIT:C8987 Clear Cell Adenofibroma semapv:UnspecifiedMatching MONDO:0003460 clear cell adenofibroma skos:exactMatch UMLS:C0334317 semapv:UnspecifiedMatching MONDO:0003461 fallopian tube serous adenofibroma skos:exactMatch DOID:5478 fallopian tube adenofibroma semapv:UnspecifiedMatching MONDO:0003461 fallopian tube serous adenofibroma skos:exactMatch MEDGEN:309125 semapv:UnspecifiedMatching MONDO:0003461 fallopian tube serous adenofibroma skos:exactMatch NCIT:C40113 Fallopian Tube Serous Adenofibroma semapv:UnspecifiedMatching MONDO:0003461 fallopian tube serous adenofibroma skos:exactMatch UMLS:C1517109 semapv:UnspecifiedMatching MONDO:0003462 papillary adenofibroma skos:exactMatch DOID:5479 papillary adenofibroma semapv:UnspecifiedMatching MONDO:0003462 papillary adenofibroma skos:exactMatch MEDGEN:237177 semapv:UnspecifiedMatching MONDO:0003462 papillary adenofibroma skos:exactMatch NCIT:C8986 Papillary Adenofibroma semapv:UnspecifiedMatching MONDO:0003462 papillary adenofibroma skos:exactMatch UMLS:C1377850 semapv:UnspecifiedMatching MONDO:0003463 ovarian endometrioid adenofibroma skos:exactMatch DOID:5480 ovarian endometrioid adenofibroma semapv:UnspecifiedMatching MONDO:0003463 ovarian endometrioid adenofibroma skos:exactMatch MEDGEN:389179 semapv:UnspecifiedMatching MONDO:0003463 ovarian endometrioid adenofibroma skos:exactMatch NCIT:C27287 Ovarian Endometrioid Adenofibroma semapv:UnspecifiedMatching MONDO:0003463 ovarian endometrioid adenofibroma skos:exactMatch UMLS:C2212024 semapv:UnspecifiedMatching MONDO:0003464 cystadenofibroma skos:exactMatch DOID:5482 cystadenofibroma semapv:UnspecifiedMatching MONDO:0003464 cystadenofibroma skos:exactMatch NCIT:C8985 Cystadenofibroma semapv:UnspecifiedMatching MONDO:0003464 cystadenofibroma skos:exactMatch mesh:D062625 semapv:UnspecifiedMatching MONDO:0003465 fibrous synovial sarcoma skos:exactMatch DOID:5484 fibrous synovial sarcoma semapv:UnspecifiedMatching MONDO:0003465 fibrous synovial sarcoma skos:exactMatch MEDGEN:234267 semapv:UnspecifiedMatching MONDO:0003465 fibrous synovial sarcoma skos:exactMatch UMLS:C1333616 semapv:UnspecifiedMatching MONDO:0003466 spindle cell synovial sarcoma skos:exactMatch DOID:5487 spindle cell synovial sarcoma semapv:UnspecifiedMatching MONDO:0003466 spindle cell synovial sarcoma skos:exactMatch MEDGEN:90795 semapv:UnspecifiedMatching MONDO:0003466 spindle cell synovial sarcoma skos:exactMatch NCIT:C4277 Spindle Cell Synovial Sarcoma semapv:UnspecifiedMatching MONDO:0003466 spindle cell synovial sarcoma skos:exactMatch UMLS:C0334505 semapv:UnspecifiedMatching MONDO:0003467 mediastinum synovial sarcoma skos:exactMatch DOID:5488 mediastinum synovial sarcoma semapv:UnspecifiedMatching MONDO:0003467 mediastinum synovial sarcoma skos:exactMatch MEDGEN:233174 semapv:UnspecifiedMatching MONDO:0003467 mediastinum synovial sarcoma skos:exactMatch NCIT:C6618 Mediastinal Synovial Sarcoma semapv:UnspecifiedMatching MONDO:0003467 mediastinum synovial sarcoma skos:exactMatch UMLS:C1334681 semapv:UnspecifiedMatching MONDO:0003468 biphasic synovial sarcoma skos:exactMatch DOID:5492 biphasic synovial sarcoma semapv:UnspecifiedMatching MONDO:0003468 biphasic synovial sarcoma skos:exactMatch MEDGEN:137773 semapv:UnspecifiedMatching MONDO:0003468 biphasic synovial sarcoma skos:exactMatch NCIT:C4279 Biphasic Synovial Sarcoma semapv:UnspecifiedMatching MONDO:0003468 biphasic synovial sarcoma skos:exactMatch UMLS:C0334507 semapv:UnspecifiedMatching MONDO:0003469 epithelioid cell synovial sarcoma skos:exactMatch DOID:5494 epithelioid cell synovial sarcoma semapv:UnspecifiedMatching MONDO:0003469 epithelioid cell synovial sarcoma skos:exactMatch MEDGEN:90796 semapv:UnspecifiedMatching MONDO:0003469 epithelioid cell synovial sarcoma skos:exactMatch NCIT:C4278 Epithelial Synovial Sarcoma semapv:UnspecifiedMatching MONDO:0003469 epithelioid cell synovial sarcoma skos:exactMatch UMLS:C0334506 semapv:UnspecifiedMatching MONDO:0003470 cellular ependymoma skos:exactMatch DOID:5500 cellular ependymoma semapv:UnspecifiedMatching MONDO:0003470 cellular ependymoma skos:exactMatch MEDGEN:235137 semapv:UnspecifiedMatching MONDO:0003470 cellular ependymoma skos:exactMatch NCIT:C4713 Cellular Ependymoma semapv:UnspecifiedMatching MONDO:0003470 cellular ependymoma skos:exactMatch UMLS:C1384403 semapv:UnspecifiedMatching MONDO:0003471 Pediculus humanus capitis infestation skos:exactMatch DOID:5501 Pediculus humanus capitis infestation semapv:UnspecifiedMatching MONDO:0003471 Pediculus humanus capitis infestation skos:exactMatch MEDGEN:508022 semapv:UnspecifiedMatching MONDO:0003471 Pediculus humanus capitis infestation skos:exactMatch SCTID:81000006 semapv:UnspecifiedMatching MONDO:0003471 Pediculus humanus capitis infestation skos:exactMatch UMLS:C0030757 semapv:UnspecifiedMatching MONDO:0003472 lice infestation skos:exactMatch DOID:5502 lice infestation semapv:UnspecifiedMatching MONDO:0003472 lice infestation skos:exactMatch ICD10CM:B85.2 Pediculosis, unspecified semapv:UnspecifiedMatching MONDO:0003472 lice infestation skos:exactMatch MEDGEN:18339 semapv:UnspecifiedMatching MONDO:0003472 lice infestation skos:exactMatch NCIT:C128401 Pediculosis semapv:UnspecifiedMatching MONDO:0003472 lice infestation skos:exactMatch UMLS:C0030756 semapv:UnspecifiedMatching MONDO:0003472 lice infestation skos:exactMatch mesh:D010373 semapv:UnspecifiedMatching MONDO:0003473 spinal cord ependymoma skos:exactMatch DOID:5503 spinal cord ependymoma semapv:UnspecifiedMatching MONDO:0003473 spinal cord ependymoma skos:exactMatch MEDGEN:65968 semapv:UnspecifiedMatching MONDO:0003473 spinal cord ependymoma skos:exactMatch NCIT:C3875 Spinal Cord Ependymoma semapv:UnspecifiedMatching MONDO:0003473 spinal cord ependymoma skos:exactMatch SCTID:254949006 semapv:UnspecifiedMatching MONDO:0003473 spinal cord ependymoma skos:exactMatch UMLS:C0238432 semapv:UnspecifiedMatching MONDO:0003474 tanycytic ependymoma skos:exactMatch DOID:5504 tanycytic ependymoma semapv:UnspecifiedMatching MONDO:0003474 tanycytic ependymoma skos:exactMatch MEDGEN:237159 semapv:UnspecifiedMatching MONDO:0003474 tanycytic ependymoma skos:exactMatch NCIT:C6903 Tanycytic Ependymoma semapv:UnspecifiedMatching MONDO:0003474 tanycytic ependymoma skos:exactMatch UMLS:C1370500 semapv:UnspecifiedMatching MONDO:0003475 papillary ependymoma skos:exactMatch DOID:5505 papillary ependymoma semapv:UnspecifiedMatching MONDO:0003475 papillary ependymoma skos:exactMatch MEDGEN:90810 semapv:UnspecifiedMatching MONDO:0003475 papillary ependymoma skos:exactMatch NCIT:C4319 Papillary Ependymoma semapv:UnspecifiedMatching MONDO:0003475 papillary ependymoma skos:exactMatch UMLS:C0334578 semapv:UnspecifiedMatching MONDO:0003476 clear cell ependymoma skos:exactMatch DOID:5507 clear cell ependymoma semapv:UnspecifiedMatching MONDO:0003476 clear cell ependymoma skos:exactMatch MEDGEN:1852795 semapv:UnspecifiedMatching MONDO:0003476 clear cell ependymoma skos:exactMatch NCIT:C4714 Clear Cell Ependymoma semapv:UnspecifiedMatching MONDO:0003476 clear cell ependymoma skos:exactMatch UMLS:C5848299 semapv:UnspecifiedMatching MONDO:0003477 brain stem ependymoma skos:exactMatch DOID:5508 brain stem ependymoma semapv:UnspecifiedMatching MONDO:0003477 brain stem ependymoma skos:exactMatch MEDGEN:231459 semapv:UnspecifiedMatching MONDO:0003477 brain stem ependymoma skos:exactMatch NCIT:C5098 Brain Stem Ependymoma semapv:UnspecifiedMatching MONDO:0003477 brain stem ependymoma skos:exactMatch UMLS:C1332609 semapv:UnspecifiedMatching MONDO:0003478 childhood ependymoma skos:exactMatch DOID:5509 childhood ependymoma semapv:UnspecifiedMatching MONDO:0003478 childhood ependymoma skos:exactMatch MEDGEN:343609 semapv:UnspecifiedMatching MONDO:0003478 childhood ependymoma skos:exactMatch NCIT:C8578 Childhood Ependymoma semapv:UnspecifiedMatching MONDO:0003478 childhood ependymoma skos:exactMatch UMLS:C1851584 semapv:UnspecifiedMatching MONDO:0003478 childhood ependymoma skos:exactMatch mesh:C531673 semapv:UnspecifiedMatching MONDO:0003479 toxic pneumonitis skos:exactMatch DOID:551 toxic pneumonitis semapv:UnspecifiedMatching MONDO:0003479 toxic pneumonitis skos:exactMatch MEDGEN:811389 semapv:UnspecifiedMatching MONDO:0003479 toxic pneumonitis skos:exactMatch SCTID:233733000 semapv:UnspecifiedMatching MONDO:0003479 toxic pneumonitis skos:exactMatch UMLS:C3714582 semapv:UnspecifiedMatching MONDO:0003480 pineal region dysgerminoma skos:exactMatch DOID:5510 pineal dysgerminoma semapv:UnspecifiedMatching MONDO:0003480 pineal region dysgerminoma skos:exactMatch MEDGEN:233328 semapv:UnspecifiedMatching MONDO:0003480 pineal region dysgerminoma skos:exactMatch NCIT:C7169 Pineal Region Dysgerminoma semapv:UnspecifiedMatching MONDO:0003480 pineal region dysgerminoma skos:exactMatch UMLS:C1335415 semapv:UnspecifiedMatching MONDO:0003481 dysgerminoma of ovary skos:exactMatch DOID:5511 dysgerminoma of ovary semapv:UnspecifiedMatching MONDO:0003481 dysgerminoma of ovary skos:exactMatch EFO:1000414 semapv:UnspecifiedMatching MONDO:0003481 dysgerminoma of ovary skos:exactMatch MEDGEN:83414 semapv:UnspecifiedMatching MONDO:0003481 dysgerminoma of ovary skos:exactMatch NCIT:C8106 Ovarian Dysgerminoma semapv:UnspecifiedMatching MONDO:0003481 dysgerminoma of ovary skos:exactMatch SCTID:254874008 semapv:UnspecifiedMatching MONDO:0003481 dysgerminoma of ovary skos:exactMatch UMLS:C0346185 semapv:UnspecifiedMatching MONDO:0003481 dysgerminoma of ovary skos:exactMatch icd11.foundation:208782658 Dysgerminoma of ovary semapv:UnspecifiedMatching MONDO:0003482 Pediculus humanus corporis infestation skos:exactMatch DOID:5513 Pediculus humanus corporis infestation semapv:UnspecifiedMatching MONDO:0003482 Pediculus humanus corporis infestation skos:exactMatch MEDGEN:508023 semapv:UnspecifiedMatching MONDO:0003482 Pediculus humanus corporis infestation skos:exactMatch SCTID:25188002 semapv:UnspecifiedMatching MONDO:0003482 Pediculus humanus corporis infestation skos:exactMatch UMLS:C0030758 semapv:UnspecifiedMatching MONDO:0003486 basaloid squamous cell carcinoma skos:exactMatch DOID:5522 basaloid squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0003486 basaloid squamous cell carcinoma skos:exactMatch EFO:1001940 semapv:UnspecifiedMatching MONDO:0003486 basaloid squamous cell carcinoma skos:exactMatch MEDGEN:266085 semapv:UnspecifiedMatching MONDO:0003486 basaloid squamous cell carcinoma skos:exactMatch NCIT:C54244 Basaloid Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0003486 basaloid squamous cell carcinoma skos:exactMatch UMLS:C1266005 semapv:UnspecifiedMatching MONDO:0003486 basaloid squamous cell carcinoma skos:exactMatch icd11.foundation:1738201981 semapv:UnspecifiedMatching MONDO:0003487 pseudoglandular squamous cell carcinoma skos:exactMatch DOID:5524 adenoid squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0003487 pseudoglandular squamous cell carcinoma skos:exactMatch MEDGEN:1731648 semapv:UnspecifiedMatching MONDO:0003487 pseudoglandular squamous cell carcinoma skos:exactMatch NCIT:C4106 Acantholytic Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0003487 pseudoglandular squamous cell carcinoma skos:exactMatch SCTID:403901001 semapv:UnspecifiedMatching MONDO:0003487 pseudoglandular squamous cell carcinoma skos:exactMatch UMLS:C5400033 semapv:UnspecifiedMatching MONDO:0003490 ampulla of vater squamous cell carcinoma skos:exactMatch DOID:5527 ampulla of Vater squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0003490 ampulla of vater squamous cell carcinoma skos:exactMatch MEDGEN:272304 semapv:UnspecifiedMatching MONDO:0003490 ampulla of vater squamous cell carcinoma skos:exactMatch NCIT:C27417 Ampulla of Vater Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0003490 ampulla of vater squamous cell carcinoma skos:exactMatch UMLS:C1332251 semapv:UnspecifiedMatching MONDO:0003492 lacrimal gland squamous cell carcinoma skos:exactMatch DOID:5529 lacrimal gland squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0003492 lacrimal gland squamous cell carcinoma skos:exactMatch MEDGEN:233607 semapv:UnspecifiedMatching MONDO:0003492 lacrimal gland squamous cell carcinoma skos:exactMatch NCIT:C6092 Lacrimal Drainage System Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0003492 lacrimal gland squamous cell carcinoma skos:exactMatch UMLS:C1334360 semapv:UnspecifiedMatching MONDO:0003493 thymus squamous cell carcinoma skos:exactMatch DOID:5530 thymus squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0003493 thymus squamous cell carcinoma skos:exactMatch EFO:1000579 semapv:UnspecifiedMatching MONDO:0003493 thymus squamous cell carcinoma skos:exactMatch MEDGEN:234814 semapv:UnspecifiedMatching MONDO:0003493 thymus squamous cell carcinoma skos:exactMatch NCIT:C6455 Thymus Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0003493 thymus squamous cell carcinoma skos:exactMatch UMLS:C1336082 semapv:UnspecifiedMatching MONDO:0003494 ovarian squamous cell carcinoma skos:exactMatch DOID:5531 ovarian squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0003494 ovarian squamous cell carcinoma skos:exactMatch EFO:1000432 semapv:UnspecifiedMatching MONDO:0003494 ovarian squamous cell carcinoma skos:exactMatch MEDGEN:384474 semapv:UnspecifiedMatching MONDO:0003494 ovarian squamous cell carcinoma skos:exactMatch NCIT:C40093 Ovarian Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0003494 ovarian squamous cell carcinoma skos:exactMatch UMLS:C2019443 semapv:UnspecifiedMatching MONDO:0003497 renal pelvis squamous cell carcinoma skos:exactMatch DOID:5534 renal pelvis squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0003497 renal pelvis squamous cell carcinoma skos:exactMatch MEDGEN:66769 semapv:UnspecifiedMatching MONDO:0003497 renal pelvis squamous cell carcinoma skos:exactMatch NCIT:C7732 Renal Pelvis Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0003497 renal pelvis squamous cell carcinoma skos:exactMatch UMLS:C0238409 semapv:UnspecifiedMatching MONDO:0003499 sarcomatoid squamous cell skin carcinoma skos:exactMatch DOID:5536 sarcomatoid squamous cell skin carcinoma semapv:UnspecifiedMatching MONDO:0003499 sarcomatoid squamous cell skin carcinoma skos:exactMatch MEDGEN:87611 semapv:UnspecifiedMatching MONDO:0003499 sarcomatoid squamous cell skin carcinoma skos:exactMatch NCIT:C4666 Skin Spindle Cell Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0003499 sarcomatoid squamous cell skin carcinoma skos:exactMatch SCTID:254653005 semapv:UnspecifiedMatching MONDO:0003499 sarcomatoid squamous cell skin carcinoma skos:exactMatch UMLS:C0349656 semapv:UnspecifiedMatching MONDO:0003500 squamous cell bile duct carcinoma skos:exactMatch DOID:5537 squamous cell bile duct carcinoma semapv:UnspecifiedMatching MONDO:0003500 squamous cell bile duct carcinoma skos:exactMatch MEDGEN:209017 semapv:UnspecifiedMatching MONDO:0003500 squamous cell bile duct carcinoma skos:exactMatch UMLS:C0861861 semapv:UnspecifiedMatching MONDO:0003501 external ear squamous cell carcinoma skos:exactMatch DOID:5538 external ear squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0003501 external ear squamous cell carcinoma skos:exactMatch MEDGEN:232478 semapv:UnspecifiedMatching MONDO:0003501 external ear squamous cell carcinoma skos:exactMatch NCIT:C6083 External Ear Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0003501 external ear squamous cell carcinoma skos:exactMatch UMLS:C1333494 semapv:UnspecifiedMatching MONDO:0003502 ureter squamous cell carcinoma skos:exactMatch DOID:5539 ureter squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0003502 ureter squamous cell carcinoma skos:exactMatch MEDGEN:237032 semapv:UnspecifiedMatching MONDO:0003502 ureter squamous cell carcinoma skos:exactMatch NCIT:C6154 Ureter Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0003502 ureter squamous cell carcinoma skos:exactMatch UMLS:C1336879 semapv:UnspecifiedMatching MONDO:0003503 fallopian tube squamous cell carcinoma skos:exactMatch DOID:5540 fallopian tube squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0003503 fallopian tube squamous cell carcinoma skos:exactMatch MEDGEN:234262 semapv:UnspecifiedMatching MONDO:0003503 fallopian tube squamous cell carcinoma skos:exactMatch NCIT:C6282 Fallopian Tube Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0003503 fallopian tube squamous cell carcinoma skos:exactMatch UMLS:C1333596 semapv:UnspecifiedMatching MONDO:0003504 anal canal neuroendocrine neoplasm skos:exactMatch DOID:5545 anal neuroendocrine tumor semapv:UnspecifiedMatching MONDO:0003504 anal canal neuroendocrine neoplasm skos:exactMatch MEDGEN:231063 semapv:UnspecifiedMatching MONDO:0003504 anal canal neuroendocrine neoplasm skos:exactMatch NCIT:C5603 Anal Canal Neuroendocrine Neoplasm semapv:UnspecifiedMatching MONDO:0003504 anal canal neuroendocrine neoplasm skos:exactMatch SCTID:717917007 semapv:UnspecifiedMatching MONDO:0003504 anal canal neuroendocrine neoplasm skos:exactMatch UMLS:C1332273 semapv:UnspecifiedMatching MONDO:0003505 femoral cancer skos:exactMatch DOID:5546 femoral cancer semapv:UnspecifiedMatching MONDO:0003505 femoral cancer skos:exactMatch MEDGEN:1843484 semapv:UnspecifiedMatching MONDO:0003505 femoral cancer skos:exactMatch UMLS:C2362822 semapv:UnspecifiedMatching MONDO:0003505 femoral cancer skos:exactMatch mesh:D005266 semapv:UnspecifiedMatching MONDO:0003506 pulmonary artery choriocarcinoma skos:exactMatch DOID:5547 pulmonary artery choriocarcinoma semapv:UnspecifiedMatching MONDO:0003506 pulmonary artery choriocarcinoma skos:exactMatch MEDGEN:233371 semapv:UnspecifiedMatching MONDO:0003506 pulmonary artery choriocarcinoma skos:exactMatch NCIT:C5381 Pulmonary Artery Choriocarcinoma semapv:UnspecifiedMatching MONDO:0003506 pulmonary artery choriocarcinoma skos:exactMatch UMLS:C1335571 semapv:UnspecifiedMatching MONDO:0003507 choriocarcinoma of ovary skos:exactMatch DOID:5550 choriocarcinoma of ovary semapv:UnspecifiedMatching MONDO:0003507 choriocarcinoma of ovary skos:exactMatch EFO:1000413 semapv:UnspecifiedMatching MONDO:0003507 choriocarcinoma of ovary skos:exactMatch MEDGEN:91089 semapv:UnspecifiedMatching MONDO:0003507 choriocarcinoma of ovary skos:exactMatch NCIT:C4515 Ovarian Choriocarcinoma semapv:UnspecifiedMatching MONDO:0003507 choriocarcinoma of ovary skos:exactMatch SCTID:254870004 semapv:UnspecifiedMatching MONDO:0003507 choriocarcinoma of ovary skos:exactMatch UMLS:C0346181 semapv:UnspecifiedMatching MONDO:0003508 choriocarcinoma of testis skos:exactMatch DOID:5551 choriocarcinoma of the testis semapv:UnspecifiedMatching MONDO:0003508 choriocarcinoma of testis skos:exactMatch EFO:1000564 semapv:UnspecifiedMatching MONDO:0003508 choriocarcinoma of testis skos:exactMatch MEDGEN:65969 semapv:UnspecifiedMatching MONDO:0003508 choriocarcinoma of testis skos:exactMatch NCIT:C7733 Testicular Choriocarcinoma semapv:UnspecifiedMatching MONDO:0003508 choriocarcinoma of testis skos:exactMatch UMLS:C0238449 semapv:UnspecifiedMatching MONDO:0003508 choriocarcinoma of testis skos:exactMatch icd11.foundation:1972827817 Choriocarcinoma of testis semapv:UnspecifiedMatching MONDO:0003509 pineal region choriocarcinoma skos:exactMatch DOID:5553 pineal region choriocarcinoma semapv:UnspecifiedMatching MONDO:0003509 pineal region choriocarcinoma skos:exactMatch MEDGEN:233327 semapv:UnspecifiedMatching MONDO:0003509 pineal region choriocarcinoma skos:exactMatch NCIT:C6759 Pineal Region Choriocarcinoma semapv:UnspecifiedMatching MONDO:0003509 pineal region choriocarcinoma skos:exactMatch UMLS:C1335414 semapv:UnspecifiedMatching MONDO:0003510 malignant testicular germ cell tumor skos:exactMatch DOID:5556 testicular malignant germ cell cancer semapv:UnspecifiedMatching MONDO:0003510 malignant testicular germ cell tumor skos:exactMatch MEDGEN:163616 semapv:UnspecifiedMatching MONDO:0003510 malignant testicular germ cell tumor skos:exactMatch NCIT:C9063 Malignant Testicular Germ Cell Tumor semapv:UnspecifiedMatching MONDO:0003510 malignant testicular germ cell tumor skos:exactMatch SCTID:713646001 semapv:UnspecifiedMatching MONDO:0003510 malignant testicular germ cell tumor skos:exactMatch UMLS:C0855197 semapv:UnspecifiedMatching MONDO:0003512 mediastinal mesenchymal tumor skos:exactMatch DOID:5560 mediastinal mesenchymal tumor semapv:UnspecifiedMatching MONDO:0003512 mediastinal mesenchymal tumor skos:exactMatch MEDGEN:233171 semapv:UnspecifiedMatching MONDO:0003512 mediastinal mesenchymal tumor skos:exactMatch NCIT:C6637 Mediastinal Soft Tissue Neoplasm semapv:UnspecifiedMatching MONDO:0003512 mediastinal mesenchymal tumor skos:exactMatch UMLS:C1334669 semapv:UnspecifiedMatching MONDO:0003513 gastric teratoma skos:exactMatch DOID:5561 gastric teratoma semapv:UnspecifiedMatching MONDO:0003513 gastric teratoma skos:exactMatch MEDGEN:272665 semapv:UnspecifiedMatching MONDO:0003513 gastric teratoma skos:exactMatch NCIT:C5259 Gastric Teratoma semapv:UnspecifiedMatching MONDO:0003513 gastric teratoma skos:exactMatch UMLS:C1333790 semapv:UnspecifiedMatching MONDO:0003514 malignant teratoma skos:exactMatch DOID:5563 malignant teratoma semapv:UnspecifiedMatching MONDO:0003514 malignant teratoma skos:exactMatch MEDGEN:1652407 semapv:UnspecifiedMatching MONDO:0003514 malignant teratoma skos:exactMatch NCIT:C4287 Malignant Teratoma semapv:UnspecifiedMatching MONDO:0003514 malignant teratoma skos:exactMatch UMLS:C4722083 semapv:UnspecifiedMatching MONDO:0003515 fallopian tube teratoma skos:exactMatch DOID:5564 fallopian tube teratoma semapv:UnspecifiedMatching MONDO:0003515 fallopian tube teratoma skos:exactMatch MEDGEN:309129 semapv:UnspecifiedMatching MONDO:0003515 fallopian tube teratoma skos:exactMatch NCIT:C40131 Fallopian Tube Teratoma semapv:UnspecifiedMatching MONDO:0003515 fallopian tube teratoma skos:exactMatch UMLS:C1517127 semapv:UnspecifiedMatching MONDO:0003516 adult teratoma skos:exactMatch DOID:5565 adult teratoma semapv:UnspecifiedMatching MONDO:0003516 adult teratoma skos:exactMatch MEDGEN:277966 semapv:UnspecifiedMatching MONDO:0003516 adult teratoma skos:exactMatch NCIT:C9013 Adult Teratoma semapv:UnspecifiedMatching MONDO:0003516 adult teratoma skos:exactMatch UMLS:C1368898 semapv:UnspecifiedMatching MONDO:0003517 mature teratoma skos:exactMatch DOID:5566 mature teratoma semapv:UnspecifiedMatching MONDO:0003517 mature teratoma skos:exactMatch MEDGEN:277967 semapv:UnspecifiedMatching MONDO:0003517 mature teratoma skos:exactMatch NCIT:C9015 Mature Teratoma semapv:UnspecifiedMatching MONDO:0003517 mature teratoma skos:exactMatch SCTID:254875009 semapv:UnspecifiedMatching MONDO:0003517 mature teratoma skos:exactMatch UMLS:C1368910 semapv:UnspecifiedMatching MONDO:0003518 mediastinum teratoma skos:exactMatch DOID:5568 mediastinum teratoma semapv:UnspecifiedMatching MONDO:0003518 mediastinum teratoma skos:exactMatch MEDGEN:233175 semapv:UnspecifiedMatching MONDO:0003518 mediastinum teratoma skos:exactMatch NCIT:C6438 Mediastinal Teratoma semapv:UnspecifiedMatching MONDO:0003518 mediastinum teratoma skos:exactMatch UMLS:C1334682 semapv:UnspecifiedMatching MONDO:0003519 malignant syringoma skos:exactMatch DOID:5569 malignant syringoma semapv:UnspecifiedMatching MONDO:0003519 malignant syringoma skos:exactMatch MEDGEN:83399 semapv:UnspecifiedMatching MONDO:0003519 malignant syringoma skos:exactMatch NCIT:C7581 Microcystic Adnexal Carcinoma semapv:UnspecifiedMatching MONDO:0003519 malignant syringoma skos:exactMatch SCTID:254712007 semapv:UnspecifiedMatching MONDO:0003519 malignant syringoma skos:exactMatch UMLS:C0346027 semapv:UnspecifiedMatching MONDO:0003522 male orgasm disorder skos:exactMatch DOID:5576 inhibited male orgasm semapv:UnspecifiedMatching MONDO:0003522 male orgasm disorder skos:exactMatch ICD10CM:F52.32 Male orgasmic disorder semapv:UnspecifiedMatching MONDO:0003522 male orgasm disorder skos:exactMatch MEDGEN:19560 semapv:UnspecifiedMatching MONDO:0003522 male orgasm disorder skos:exactMatch NCIT:C34959 Male Orgasmic Disorder semapv:UnspecifiedMatching MONDO:0003522 male orgasm disorder skos:exactMatch SCTID:81903006 semapv:UnspecifiedMatching MONDO:0003522 male orgasm disorder skos:exactMatch UMLS:C0033949 semapv:UnspecifiedMatching MONDO:0003523 gastrin-producing neuroendocrine tumor skos:exactMatch DOID:5577 gastrinoma semapv:UnspecifiedMatching MONDO:0003523 gastrin-producing neuroendocrine tumor skos:exactMatch MEDGEN:6551 semapv:UnspecifiedMatching MONDO:0003523 gastrin-producing neuroendocrine tumor skos:exactMatch NCIT:C3050 Gastrin-Producing Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO:0003523 gastrin-producing neuroendocrine tumor skos:exactMatch UMLS:C0017150 semapv:UnspecifiedMatching MONDO:0003523 gastrin-producing neuroendocrine tumor skos:exactMatch icd11.foundation:1333125891 Gastrinoma semapv:UnspecifiedMatching MONDO:0003524 gastric gastrin-producing neuroendocrine tumor skos:exactMatch DOID:5579 gastric gastrinoma semapv:UnspecifiedMatching MONDO:0003524 gastric gastrin-producing neuroendocrine tumor skos:exactMatch MEDGEN:232230 semapv:UnspecifiedMatching MONDO:0003524 gastric gastrin-producing neuroendocrine tumor skos:exactMatch NCIT:C27444 Gastric Gastrin-Producing Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO:0003524 gastric gastrin-producing neuroendocrine tumor skos:exactMatch UMLS:C1333767 semapv:UnspecifiedMatching MONDO:0003525 pancreatic gastrin-producing neuroendocrine tumor skos:exactMatch DOID:5580 pancreatic gastrinoma semapv:UnspecifiedMatching MONDO:0003525 pancreatic gastrin-producing neuroendocrine tumor skos:exactMatch MEDGEN:235080 semapv:UnspecifiedMatching MONDO:0003525 pancreatic gastrin-producing neuroendocrine tumor skos:exactMatch NCIT:C9069 Pancreatic Gastrin-Producing Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO:0003525 pancreatic gastrin-producing neuroendocrine tumor skos:exactMatch UMLS:C1368066 semapv:UnspecifiedMatching MONDO:0003525 pancreatic gastrin-producing neuroendocrine tumor skos:exactMatch mesh:D015408 semapv:UnspecifiedMatching MONDO:0003528 Volkmann contracture skos:exactMatch DOID:5587 Volkmann contracture semapv:UnspecifiedMatching MONDO:0003528 Volkmann contracture skos:exactMatch MEDGEN:22684 semapv:UnspecifiedMatching MONDO:0003528 Volkmann contracture skos:exactMatch NCIT:C35130 Volkmann's Ischemic Contracture semapv:UnspecifiedMatching MONDO:0003528 Volkmann contracture skos:exactMatch SCTID:111247001 semapv:UnspecifiedMatching MONDO:0003528 Volkmann contracture skos:exactMatch UMLS:C0042951 semapv:UnspecifiedMatching MONDO:0003528 Volkmann contracture skos:exactMatch icd11.foundation:366740140 Volkmann contracture semapv:UnspecifiedMatching MONDO:0003528 Volkmann contracture skos:exactMatch mesh:D054061 semapv:UnspecifiedMatching MONDO:0003529 acute pyelonephritis skos:exactMatch DOID:559 acute pyelonephritis semapv:UnspecifiedMatching MONDO:0003529 acute pyelonephritis skos:exactMatch ICD10CM:N10 Acute pyelonephritis semapv:UnspecifiedMatching MONDO:0003529 acute pyelonephritis skos:exactMatch MEDGEN:636072 semapv:UnspecifiedMatching MONDO:0003529 acute pyelonephritis skos:exactMatch NCIT:C123215 Acute Pyelonephritis semapv:UnspecifiedMatching MONDO:0003529 acute pyelonephritis skos:exactMatch SCTID:36689008 semapv:UnspecifiedMatching MONDO:0003529 acute pyelonephritis skos:exactMatch UMLS:C0520575 semapv:UnspecifiedMatching MONDO:0003529 acute pyelonephritis skos:exactMatch icd11.foundation:441183088 Acute pyelonephritis semapv:UnspecifiedMatching MONDO:0003531 papillary eccrine carcinoma skos:exactMatch DOID:5591 eccrine papillary adenocarcinoma semapv:UnspecifiedMatching MONDO:0003531 papillary eccrine carcinoma skos:exactMatch SCTID:254709009 semapv:UnspecifiedMatching MONDO:0003532 breast papillary carcinoma skos:exactMatch DOID:5592 breast papillary carcinoma semapv:UnspecifiedMatching MONDO:0003532 breast papillary carcinoma skos:exactMatch MEDGEN:818226 semapv:UnspecifiedMatching MONDO:0003532 breast papillary carcinoma skos:exactMatch NCIT:C9134 Breast Papillary Carcinoma semapv:UnspecifiedMatching MONDO:0003532 breast papillary carcinoma skos:exactMatch UMLS:C3812899 semapv:UnspecifiedMatching MONDO:0003534 papillary thymic adenocarcinoma skos:exactMatch DOID:5595 papillary thymic adenocarcinoma semapv:UnspecifiedMatching MONDO:0003534 papillary thymic adenocarcinoma skos:exactMatch MEDGEN:233836 semapv:UnspecifiedMatching MONDO:0003534 papillary thymic adenocarcinoma skos:exactMatch NCIT:C27937 Thymus Low Grade Papillary Adenocarcinoma semapv:UnspecifiedMatching MONDO:0003534 papillary thymic adenocarcinoma skos:exactMatch UMLS:C1335327 semapv:UnspecifiedMatching MONDO:0003535 fallopian tube papillary adenocarcinoma skos:exactMatch DOID:5597 fallopian tube papillary adenocarcinoma semapv:UnspecifiedMatching MONDO:0003535 fallopian tube papillary adenocarcinoma skos:exactMatch MEDGEN:234261 semapv:UnspecifiedMatching MONDO:0003535 fallopian tube papillary adenocarcinoma skos:exactMatch NCIT:C6267 Fallopian Tube Papillary Adenocarcinoma semapv:UnspecifiedMatching MONDO:0003535 fallopian tube papillary adenocarcinoma skos:exactMatch UMLS:C1333595 semapv:UnspecifiedMatching MONDO:0003537 T lymphoblastic leukemia/lymphoma skos:exactMatch MEDGEN:224897 semapv:UnspecifiedMatching MONDO:0003537 T lymphoblastic leukemia/lymphoma skos:exactMatch NCIT:C8694 T Lymphoblastic Leukemia/Lymphoma semapv:UnspecifiedMatching MONDO:0003537 T lymphoblastic leukemia/lymphoma skos:exactMatch UMLS:C1301359 semapv:UnspecifiedMatching MONDO:0003538 precursor lymphoblastic lymphoma/leukemia skos:exactMatch MEDGEN:235492 semapv:UnspecifiedMatching MONDO:0003538 precursor lymphoblastic lymphoma/leukemia skos:exactMatch NCIT:C7055 Precursor Lymphoid Neoplasm semapv:UnspecifiedMatching MONDO:0003538 precursor lymphoblastic lymphoma/leukemia skos:exactMatch UMLS:C1335469 semapv:UnspecifiedMatching MONDO:0003539 T-cell adult acute lymphocytic leukemia skos:exactMatch DOID:5602 T-cell adult acute lymphocytic leukemia semapv:UnspecifiedMatching MONDO:0003539 T-cell adult acute lymphocytic leukemia skos:exactMatch EFO:1001936 semapv:UnspecifiedMatching MONDO:0003539 T-cell adult acute lymphocytic leukemia skos:exactMatch MEDGEN:79009 semapv:UnspecifiedMatching MONDO:0003539 T-cell adult acute lymphocytic leukemia skos:exactMatch NCIT:C9142 Adult T Acute Lymphoblastic Leukemia semapv:UnspecifiedMatching MONDO:0003539 T-cell adult acute lymphocytic leukemia skos:exactMatch UMLS:C0279592 semapv:UnspecifiedMatching MONDO:0003541 adult acute lymphoblastic leukemia skos:exactMatch DOID:5604 adult acute lymphocytic leukemia semapv:UnspecifiedMatching MONDO:0003541 adult acute lymphoblastic leukemia skos:exactMatch MEDGEN:199693 semapv:UnspecifiedMatching MONDO:0003541 adult acute lymphoblastic leukemia skos:exactMatch NCIT:C4967 Adult Acute Lymphoblastic Leukemia semapv:UnspecifiedMatching MONDO:0003541 adult acute lymphoblastic leukemia skos:exactMatch UMLS:C0751606 semapv:UnspecifiedMatching MONDO:0003542 dental pulp calcification skos:exactMatch DOID:5608 dental pulp calcification semapv:UnspecifiedMatching MONDO:0003542 dental pulp calcification skos:exactMatch MEDGEN:41471 semapv:UnspecifiedMatching MONDO:0003542 dental pulp calcification skos:exactMatch SCTID:57602001 semapv:UnspecifiedMatching MONDO:0003542 dental pulp calcification skos:exactMatch UMLS:C0011401 semapv:UnspecifiedMatching MONDO:0003542 dental pulp calcification skos:exactMatch icd11.foundation:1672640309 Dental pulp calcification semapv:UnspecifiedMatching MONDO:0003542 dental pulp calcification skos:exactMatch mesh:D003784 semapv:UnspecifiedMatching MONDO:0003543 trigeminal nerve disorder skos:exactMatch DOID:561 trigeminal nerve disease semapv:UnspecifiedMatching MONDO:0003543 trigeminal nerve disorder skos:exactMatch EFO:0009569 semapv:UnspecifiedMatching MONDO:0003543 trigeminal nerve disorder skos:exactMatch MEDGEN:101823 semapv:UnspecifiedMatching MONDO:0003543 trigeminal nerve disorder skos:exactMatch NCIT:C26952 Trigeminal Nerve Disorder semapv:UnspecifiedMatching MONDO:0003543 trigeminal nerve disorder skos:exactMatch SCTID:64309007 semapv:UnspecifiedMatching MONDO:0003543 trigeminal nerve disorder skos:exactMatch UMLS:C0152177 semapv:UnspecifiedMatching MONDO:0003543 trigeminal nerve disorder skos:exactMatch mesh:D020433 semapv:UnspecifiedMatching MONDO:0003544 spinal cord cancer skos:exactMatch DOID:5612 spinal cancer semapv:UnspecifiedMatching MONDO:0003544 spinal cord cancer skos:exactMatch ICD10CM:C72.0 Malignant neoplasm of spinal cord semapv:UnspecifiedMatching MONDO:0003544 spinal cord cancer skos:exactMatch MEDGEN:56317 semapv:UnspecifiedMatching MONDO:0003544 spinal cord cancer skos:exactMatch NCIT:C3572 Malignant Spinal Cord Neoplasm semapv:UnspecifiedMatching MONDO:0003544 spinal cord cancer skos:exactMatch SCTID:363475005 semapv:UnspecifiedMatching MONDO:0003544 spinal cord cancer skos:exactMatch UMLS:C0153646 semapv:UnspecifiedMatching MONDO:0003544 spinal cord cancer skos:exactMatch icd11.foundation:492029077 Malignant neoplasm of spinal cord semapv:UnspecifiedMatching MONDO:0003545 intradural extramedullary spinal canal neoplasm skos:exactMatch DOID:5615 spinal canal intradural extramedullary neoplasm semapv:UnspecifiedMatching MONDO:0003545 intradural extramedullary spinal canal neoplasm skos:exactMatch MEDGEN:272771 semapv:UnspecifiedMatching MONDO:0003545 intradural extramedullary spinal canal neoplasm skos:exactMatch NCIT:C5135 Intradural Extramedullary Spinal Neoplasm semapv:UnspecifiedMatching MONDO:0003545 intradural extramedullary spinal canal neoplasm skos:exactMatch UMLS:C1334255 semapv:UnspecifiedMatching MONDO:0003546 third cranial nerve disorder skos:exactMatch DOID:562 third cranial nerve disease semapv:UnspecifiedMatching MONDO:0003546 third cranial nerve disorder skos:exactMatch MEDGEN:78766 semapv:UnspecifiedMatching MONDO:0003546 third cranial nerve disorder skos:exactMatch NCIT:C27598 Oculomotor Nerve Disorder semapv:UnspecifiedMatching MONDO:0003546 third cranial nerve disorder skos:exactMatch SCTID:60750009 semapv:UnspecifiedMatching MONDO:0003546 third cranial nerve disorder skos:exactMatch UMLS:C0271353 semapv:UnspecifiedMatching MONDO:0003546 third cranial nerve disorder skos:exactMatch mesh:D015840 semapv:UnspecifiedMatching MONDO:0003548 adenosquamous breast carcinoma skos:exactMatch DOID:5623 adenosquamous breast carcinoma semapv:UnspecifiedMatching MONDO:0003548 adenosquamous breast carcinoma skos:exactMatch MEDGEN:267645 semapv:UnspecifiedMatching MONDO:0003548 adenosquamous breast carcinoma skos:exactMatch NCIT:C40361 Breast Adenosquamous Carcinoma semapv:UnspecifiedMatching MONDO:0003548 adenosquamous breast carcinoma skos:exactMatch UMLS:C1510796 semapv:UnspecifiedMatching MONDO:0003549 adenosquamous bile duct carcinoma skos:exactMatch DOID:5624 adenosquamous bile duct carcinoma semapv:UnspecifiedMatching MONDO:0003549 adenosquamous bile duct carcinoma skos:exactMatch MEDGEN:163666 semapv:UnspecifiedMatching MONDO:0003549 adenosquamous bile duct carcinoma skos:exactMatch UMLS:C0861854 semapv:UnspecifiedMatching MONDO:0003550 esophageal adenosquamous carcinoma skos:exactMatch DOID:5625 esophageal adenosquamous carcinoma semapv:UnspecifiedMatching MONDO:0003550 esophageal adenosquamous carcinoma skos:exactMatch MEDGEN:389165 semapv:UnspecifiedMatching MONDO:0003550 esophageal adenosquamous carcinoma skos:exactMatch NCIT:C27421 Esophageal Adenosquamous Carcinoma semapv:UnspecifiedMatching MONDO:0003550 esophageal adenosquamous carcinoma skos:exactMatch UMLS:C2063886 semapv:UnspecifiedMatching MONDO:0003551 thymic adenosquamous carcinoma skos:exactMatch DOID:5626 thymus adenosquamous carcinoma semapv:UnspecifiedMatching MONDO:0003551 thymic adenosquamous carcinoma skos:exactMatch MEDGEN:272286 semapv:UnspecifiedMatching MONDO:0003551 thymic adenosquamous carcinoma skos:exactMatch NCIT:C6458 Thymus Adenosquamous Carcinoma semapv:UnspecifiedMatching MONDO:0003551 thymic adenosquamous carcinoma skos:exactMatch UMLS:C1332171 semapv:UnspecifiedMatching MONDO:0003553 ampulla of vater adenosquamous carcinoma skos:exactMatch DOID:5628 ampulla of Vater adenosquamous carcinoma semapv:UnspecifiedMatching MONDO:0003553 ampulla of vater adenosquamous carcinoma skos:exactMatch MEDGEN:231056 semapv:UnspecifiedMatching MONDO:0003553 ampulla of vater adenosquamous carcinoma skos:exactMatch NCIT:C27418 Ampulla of Vater Adenosquamous Carcinoma semapv:UnspecifiedMatching MONDO:0003553 ampulla of vater adenosquamous carcinoma skos:exactMatch UMLS:C1332245 semapv:UnspecifiedMatching MONDO:0003554 adenosquamous colon carcinoma skos:exactMatch DOID:5629 adenosquamous colon carcinoma semapv:UnspecifiedMatching MONDO:0003554 adenosquamous colon carcinoma skos:exactMatch MEDGEN:232083 semapv:UnspecifiedMatching MONDO:0003554 adenosquamous colon carcinoma skos:exactMatch NCIT:C5491 Colon Adenosquamous Carcinoma semapv:UnspecifiedMatching MONDO:0003554 adenosquamous colon carcinoma skos:exactMatch UMLS:C1333082 semapv:UnspecifiedMatching MONDO:0003555 Bartholin gland adenosquamous carcinoma skos:exactMatch DOID:5630 Bartholin's gland adenosquamous carcinoma semapv:UnspecifiedMatching MONDO:0003555 Bartholin gland adenosquamous carcinoma skos:exactMatch MEDGEN:267339 semapv:UnspecifiedMatching MONDO:0003555 Bartholin gland adenosquamous carcinoma skos:exactMatch NCIT:C40296 Bartholin Gland Adenosquamous Carcinoma semapv:UnspecifiedMatching MONDO:0003555 Bartholin gland adenosquamous carcinoma skos:exactMatch UMLS:C1511050 semapv:UnspecifiedMatching MONDO:0003556 endometrial adenosquamous carcinoma skos:exactMatch DOID:5631 endometrial adenosquamous carcinoma semapv:UnspecifiedMatching MONDO:0003556 endometrial adenosquamous carcinoma skos:exactMatch EFO:1001952 semapv:UnspecifiedMatching MONDO:0003556 endometrial adenosquamous carcinoma skos:exactMatch MEDGEN:856563 semapv:UnspecifiedMatching MONDO:0003556 endometrial adenosquamous carcinoma skos:exactMatch NCIT:C114656 Endometrial Adenosquamous Carcinoma semapv:UnspecifiedMatching MONDO:0003556 endometrial adenosquamous carcinoma skos:exactMatch UMLS:C3896969 semapv:UnspecifiedMatching MONDO:0003557 optic nerve sheath meningioma skos:exactMatch DOID:5632 optic nerve sheath meningioma semapv:UnspecifiedMatching MONDO:0003557 optic nerve sheath meningioma skos:exactMatch MEDGEN:138057 semapv:UnspecifiedMatching MONDO:0003557 optic nerve sheath meningioma skos:exactMatch NCIT:C4538 Optic Nerve Sheath Meningioma semapv:UnspecifiedMatching MONDO:0003557 optic nerve sheath meningioma skos:exactMatch SCTID:254978007 semapv:UnspecifiedMatching MONDO:0003557 optic nerve sheath meningioma skos:exactMatch UMLS:C0346328 semapv:UnspecifiedMatching MONDO:0003558 adenosquamous prostate carcinoma skos:exactMatch DOID:5634 adenosquamous prostate carcinoma semapv:UnspecifiedMatching MONDO:0003558 adenosquamous prostate carcinoma skos:exactMatch MEDGEN:233353 semapv:UnspecifiedMatching MONDO:0003558 adenosquamous prostate carcinoma skos:exactMatch NCIT:C5538 Prostate Adenosquamous Carcinoma semapv:UnspecifiedMatching MONDO:0003558 adenosquamous prostate carcinoma skos:exactMatch UMLS:C1335503 semapv:UnspecifiedMatching MONDO:0003561 malignant giant cell tumor of soft parts skos:exactMatch DOID:5638 malignant giant cell tumor of soft parts semapv:UnspecifiedMatching MONDO:0003561 malignant giant cell tumor of soft parts skos:exactMatch MEDGEN:90807 semapv:UnspecifiedMatching MONDO:0003561 malignant giant cell tumor of soft parts skos:exactMatch NCIT:C8380 Undifferentiated Pleomorphic Sarcoma with Osteoclast-Like Giant Cells semapv:UnspecifiedMatching MONDO:0003561 malignant giant cell tumor of soft parts skos:exactMatch UMLS:C0334554 semapv:UnspecifiedMatching MONDO:0003562 rete testis neoplasm skos:exactMatch DOID:5639 rete testis neoplasm semapv:UnspecifiedMatching MONDO:0003562 rete testis neoplasm skos:exactMatch MEDGEN:308162 semapv:UnspecifiedMatching MONDO:0003562 rete testis neoplasm skos:exactMatch NCIT:C39955 Rete Testis Neoplasm semapv:UnspecifiedMatching MONDO:0003562 rete testis neoplasm skos:exactMatch UMLS:C1514912 semapv:UnspecifiedMatching MONDO:0003563 diffuse pulmonary fibrosis skos:exactMatch DOID:5641 diffuse pulmonary fibrosis semapv:UnspecifiedMatching MONDO:0003563 diffuse pulmonary fibrosis skos:exactMatch MEDGEN:167847 semapv:UnspecifiedMatching MONDO:0003563 diffuse pulmonary fibrosis skos:exactMatch NCIT:C27216 Diffuse Pulmonary Fibrosis semapv:UnspecifiedMatching MONDO:0003563 diffuse pulmonary fibrosis skos:exactMatch UMLS:C0865849 semapv:UnspecifiedMatching MONDO:0003564 localized pulmonary fibrosis skos:exactMatch DOID:5642 localized pulmonary fibrosis semapv:UnspecifiedMatching MONDO:0003564 localized pulmonary fibrosis skos:exactMatch MEDGEN:137936 semapv:UnspecifiedMatching MONDO:0003564 localized pulmonary fibrosis skos:exactMatch NCIT:C27103 Localized Pulmonary Fibrosis semapv:UnspecifiedMatching MONDO:0003564 localized pulmonary fibrosis skos:exactMatch SCTID:233726000 semapv:UnspecifiedMatching MONDO:0003564 localized pulmonary fibrosis skos:exactMatch UMLS:C0340127 semapv:UnspecifiedMatching MONDO:0003565 urethral villous adenoma skos:exactMatch DOID:5643 urethral villous adenoma semapv:UnspecifiedMatching MONDO:0003565 urethral villous adenoma skos:exactMatch MEDGEN:274360 semapv:UnspecifiedMatching MONDO:0003565 urethral villous adenoma skos:exactMatch NCIT:C39872 Urethral Villous Adenoma semapv:UnspecifiedMatching MONDO:0003565 urethral villous adenoma skos:exactMatch UMLS:C1519828 semapv:UnspecifiedMatching MONDO:0003567 bilateral hypoactive labyrinth skos:exactMatch DOID:565 bilateral hypoactive labyrinth semapv:UnspecifiedMatching MONDO:0003567 bilateral hypoactive labyrinth skos:exactMatch MEDGEN:510004 semapv:UnspecifiedMatching MONDO:0003567 bilateral hypoactive labyrinth skos:exactMatch SCTID:194375009 semapv:UnspecifiedMatching MONDO:0003567 bilateral hypoactive labyrinth skos:exactMatch UMLS:C0155518 semapv:UnspecifiedMatching MONDO:0003568 disorder of optic chiasm skos:exactMatch DOID:5655 chiasmal syndrome semapv:UnspecifiedMatching MONDO:0003568 disorder of optic chiasm skos:exactMatch ICD10CM:H47.4 Disorders of optic chiasm semapv:UnspecifiedMatching MONDO:0003568 disorder of optic chiasm skos:exactMatch MEDGEN:509905 semapv:UnspecifiedMatching MONDO:0003568 disorder of optic chiasm skos:exactMatch SCTID:70476006 semapv:UnspecifiedMatching MONDO:0003568 disorder of optic chiasm skos:exactMatch UMLS:C0155307 semapv:UnspecifiedMatching MONDO:0003568 disorder of optic chiasm skos:exactMatch icd11.foundation:927459952 Disorder of optic chiasm semapv:UnspecifiedMatching MONDO:0003569 cranial nerve neuropathy skos:exactMatch DOID:5656 cranial nerve disease semapv:UnspecifiedMatching MONDO:0003569 cranial nerve neuropathy skos:exactMatch MEDGEN:1160 semapv:UnspecifiedMatching MONDO:0003569 cranial nerve neuropathy skos:exactMatch NCIT:C26733 Cranial Nerve Disorder semapv:UnspecifiedMatching MONDO:0003569 cranial nerve neuropathy skos:exactMatch SCTID:73013002 semapv:UnspecifiedMatching MONDO:0003569 cranial nerve neuropathy skos:exactMatch UMLS:C0010266 semapv:UnspecifiedMatching MONDO:0003569 cranial nerve neuropathy skos:exactMatch mesh:D003389 semapv:UnspecifiedMatching MONDO:0003570 lipid-rich carcinoma skos:exactMatch DOID:5658 lipid-rich carcinoma semapv:UnspecifiedMatching MONDO:0003570 lipid-rich carcinoma skos:exactMatch MEDGEN:137742 semapv:UnspecifiedMatching MONDO:0003570 lipid-rich carcinoma skos:exactMatch NCIT:C4152 Lipid-Rich Carcinoma semapv:UnspecifiedMatching MONDO:0003570 lipid-rich carcinoma skos:exactMatch UMLS:C0334318 semapv:UnspecifiedMatching MONDO:0003571 obsolete labyrinthine dysfunction skos:exactMatch DOID:566 labyrinthine dysfunction semapv:UnspecifiedMatching MONDO:0003571 obsolete labyrinthine dysfunction skos:exactMatch ICD10CM:H83.2 Labyrinthine dysfunction semapv:UnspecifiedMatching MONDO:0003571 obsolete labyrinthine dysfunction skos:exactMatch SCTID:5239005 semapv:UnspecifiedMatching MONDO:0003572 nasopharyngeal type undifferentiated carcinoma skos:exactMatch DOID:5660 lymphoepithelioma-like carcinoma semapv:UnspecifiedMatching MONDO:0003572 nasopharyngeal type undifferentiated carcinoma skos:exactMatch MEDGEN:87199 semapv:UnspecifiedMatching MONDO:0003572 nasopharyngeal type undifferentiated carcinoma skos:exactMatch NCIT:C4107 Lymphoepithelial Carcinoma semapv:UnspecifiedMatching MONDO:0003572 nasopharyngeal type undifferentiated carcinoma skos:exactMatch UMLS:C0334254 semapv:UnspecifiedMatching MONDO:0003573 pleomorphic carcinoma skos:exactMatch DOID:5662 pleomorphic carcinoma semapv:UnspecifiedMatching MONDO:0003573 pleomorphic carcinoma skos:exactMatch MEDGEN:87198 semapv:UnspecifiedMatching MONDO:0003573 pleomorphic carcinoma skos:exactMatch NCIT:C4094 Pleomorphic Carcinoma semapv:UnspecifiedMatching MONDO:0003573 pleomorphic carcinoma skos:exactMatch UMLS:C0334233 semapv:UnspecifiedMatching MONDO:0003573 pleomorphic carcinoma skos:exactMatch icd11.foundation:1381572140 semapv:UnspecifiedMatching MONDO:0003574 external ear cancer skos:exactMatch DOID:5665 external ear cancer semapv:UnspecifiedMatching MONDO:0003574 external ear cancer skos:exactMatch MEDGEN:91157 semapv:UnspecifiedMatching MONDO:0003574 external ear cancer skos:exactMatch NCIT:C4653 Malignant External Ear Neoplasm semapv:UnspecifiedMatching MONDO:0003574 external ear cancer skos:exactMatch SCTID:277156006 semapv:UnspecifiedMatching MONDO:0003574 external ear cancer skos:exactMatch UMLS:C0349576 semapv:UnspecifiedMatching MONDO:0003575 comedocarcinoma skos:exactMatch DOID:5670 comedo carcinoma semapv:UnspecifiedMatching MONDO:0003575 comedocarcinoma skos:exactMatch MEDGEN:90773 semapv:UnspecifiedMatching MONDO:0003575 comedocarcinoma skos:exactMatch NCIT:C4188 Comedo-Type Adenocarcinoma semapv:UnspecifiedMatching MONDO:0003575 comedocarcinoma skos:exactMatch UMLS:C0334370 semapv:UnspecifiedMatching MONDO:0003578 extragonadal nonseminomatous germ cell tumor skos:exactMatch DOID:5677 malignant extragonadal nonseminomatous germ cell tumor semapv:UnspecifiedMatching MONDO:0003578 extragonadal nonseminomatous germ cell tumor skos:exactMatch MEDGEN:233662 semapv:UnspecifiedMatching MONDO:0003578 extragonadal nonseminomatous germ cell tumor skos:exactMatch NCIT:C8885 Malignant Extragonadal Nongerminomatous Germ Cell Tumor semapv:UnspecifiedMatching MONDO:0003578 extragonadal nonseminomatous germ cell tumor skos:exactMatch UMLS:C1334582 semapv:UnspecifiedMatching MONDO:0003579 retinal nerve fiber layer disorder skos:exactMatch DOID:5678 nerve fibre bundle defect semapv:UnspecifiedMatching MONDO:0003579 retinal nerve fiber layer disorder skos:exactMatch MEDGEN:784046 semapv:UnspecifiedMatching MONDO:0003579 retinal nerve fiber layer disorder skos:exactMatch SCTID:193428001 semapv:UnspecifiedMatching MONDO:0003579 retinal nerve fiber layer disorder skos:exactMatch UMLS:C3665426 semapv:UnspecifiedMatching MONDO:0003581 ovarian embryonal carcinoma skos:exactMatch DOID:5681 ovarian embryonal carcinoma semapv:UnspecifiedMatching MONDO:0003581 ovarian embryonal carcinoma skos:exactMatch EFO:1000415 semapv:UnspecifiedMatching MONDO:0003581 ovarian embryonal carcinoma skos:exactMatch MEDGEN:91090 semapv:UnspecifiedMatching MONDO:0003581 ovarian embryonal carcinoma skos:exactMatch NCIT:C8108 Ovarian Embryonal Carcinoma semapv:UnspecifiedMatching MONDO:0003581 ovarian embryonal carcinoma skos:exactMatch SCTID:254872007 semapv:UnspecifiedMatching MONDO:0003581 ovarian embryonal carcinoma skos:exactMatch UMLS:C0346183 semapv:UnspecifiedMatching MONDO:0003582 hereditary breast ovarian cancer syndrome skos:exactMatch DOID:5683 hereditary breast ovarian cancer syndrome semapv:UnspecifiedMatching MONDO:0003582 hereditary breast ovarian cancer syndrome skos:exactMatch MEDGEN:151793 semapv:UnspecifiedMatching MONDO:0003582 hereditary breast ovarian cancer syndrome skos:exactMatch NCIT:C8493 BRCA1/2-Associated Hereditary Breast and Ovarian Cancer Syndrome semapv:UnspecifiedMatching MONDO:0003582 hereditary breast ovarian cancer syndrome skos:exactMatch Orphanet:145 Hereditary breast and/or ovarian cancer syndrome semapv:UnspecifiedMatching MONDO:0003582 hereditary breast ovarian cancer syndrome skos:exactMatch SCTID:718220008 semapv:UnspecifiedMatching MONDO:0003582 hereditary breast ovarian cancer syndrome skos:exactMatch UMLS:C0677776 semapv:UnspecifiedMatching MONDO:0003582 hereditary breast ovarian cancer syndrome skos:exactMatch icd11.foundation:1258896144 Hereditary breast and ovarian cancer syndrome semapv:UnspecifiedMatching MONDO:0003582 hereditary breast ovarian cancer syndrome skos:exactMatch mesh:D061325 semapv:UnspecifiedMatching MONDO:0003584 visual cortex disorder skos:exactMatch DOID:5691 visual cortex disease semapv:UnspecifiedMatching MONDO:0003584 visual cortex disorder skos:exactMatch ICD10CM:H47.6 Disorders of visual cortex semapv:UnspecifiedMatching MONDO:0003584 visual cortex disorder skos:exactMatch MEDGEN:66699 semapv:UnspecifiedMatching MONDO:0003584 visual cortex disorder skos:exactMatch NCIT:C35275 Visual Cortex Disorder semapv:UnspecifiedMatching MONDO:0003584 visual cortex disorder skos:exactMatch Orphanet:447788 Cerebral visual impairment semapv:UnspecifiedMatching MONDO:0003584 visual cortex disorder skos:exactMatch SCTID:128329001 semapv:UnspecifiedMatching MONDO:0003584 visual cortex disorder skos:exactMatch UMLS:C0234398 semapv:UnspecifiedMatching MONDO:0003585 adult liposarcoma skos:exactMatch DOID:5693 adult liposarcoma semapv:UnspecifiedMatching MONDO:0003585 adult liposarcoma skos:exactMatch MEDGEN:75842 semapv:UnspecifiedMatching MONDO:0003585 adult liposarcoma skos:exactMatch NCIT:C7811 Adult Liposarcoma semapv:UnspecifiedMatching MONDO:0003585 adult liposarcoma skos:exactMatch UMLS:C0278608 semapv:UnspecifiedMatching MONDO:0003586 esophagus liposarcoma skos:exactMatch DOID:5694 esophagus liposarcoma semapv:UnspecifiedMatching MONDO:0003586 esophagus liposarcoma skos:exactMatch MEDGEN:232163 semapv:UnspecifiedMatching MONDO:0003586 esophagus liposarcoma skos:exactMatch NCIT:C5705 Esophageal Liposarcoma semapv:UnspecifiedMatching MONDO:0003586 esophagus liposarcoma skos:exactMatch UMLS:C1333456 semapv:UnspecifiedMatching MONDO:0003587 pediatric liposarcoma skos:exactMatch DOID:5695 childhood liposarcoma semapv:UnspecifiedMatching MONDO:0003587 pediatric liposarcoma skos:exactMatch MEDGEN:83580 semapv:UnspecifiedMatching MONDO:0003587 pediatric liposarcoma skos:exactMatch NCIT:C8091 Childhood Liposarcoma semapv:UnspecifiedMatching MONDO:0003587 pediatric liposarcoma skos:exactMatch UMLS:C0279984 semapv:UnspecifiedMatching MONDO:0003588 larynx liposarcoma skos:exactMatch DOID:5696 larynx liposarcoma semapv:UnspecifiedMatching MONDO:0003588 larynx liposarcoma skos:exactMatch MEDGEN:235252 semapv:UnspecifiedMatching MONDO:0003588 larynx liposarcoma skos:exactMatch NCIT:C6021 Laryngeal Liposarcoma semapv:UnspecifiedMatching MONDO:0003588 larynx liposarcoma skos:exactMatch UMLS:C1334372 semapv:UnspecifiedMatching MONDO:0003589 liposarcoma of the ovary skos:exactMatch DOID:5697 liposarcoma of the ovary semapv:UnspecifiedMatching MONDO:0003589 liposarcoma of the ovary skos:exactMatch MEDGEN:233808 semapv:UnspecifiedMatching MONDO:0003589 liposarcoma of the ovary skos:exactMatch NCIT:C6419 Ovarian Liposarcoma semapv:UnspecifiedMatching MONDO:0003589 liposarcoma of the ovary skos:exactMatch UMLS:C1335165 semapv:UnspecifiedMatching MONDO:0003590 fibroblastic liposarcoma skos:exactMatch DOID:5698 fibroblastic liposarcoma semapv:UnspecifiedMatching MONDO:0003590 fibroblastic liposarcoma skos:exactMatch MEDGEN:266103 semapv:UnspecifiedMatching MONDO:0003590 fibroblastic liposarcoma skos:exactMatch NCIT:C6509 Fibroblastic Liposarcoma semapv:UnspecifiedMatching MONDO:0003590 fibroblastic liposarcoma skos:exactMatch UMLS:C1266130 semapv:UnspecifiedMatching MONDO:0003591 kidney liposarcoma skos:exactMatch DOID:5699 kidney liposarcoma semapv:UnspecifiedMatching MONDO:0003591 kidney liposarcoma skos:exactMatch MEDGEN:235546 semapv:UnspecifiedMatching MONDO:0003591 kidney liposarcoma skos:exactMatch NCIT:C6185 Kidney Liposarcoma semapv:UnspecifiedMatching MONDO:0003591 kidney liposarcoma skos:exactMatch UMLS:C1335745 semapv:UnspecifiedMatching MONDO:0003592 gastric liposarcoma skos:exactMatch DOID:5700 gastric liposarcoma semapv:UnspecifiedMatching MONDO:0003592 gastric liposarcoma skos:exactMatch MEDGEN:272663 semapv:UnspecifiedMatching MONDO:0003592 gastric liposarcoma skos:exactMatch NCIT:C5488 Gastric Liposarcoma semapv:UnspecifiedMatching MONDO:0003592 gastric liposarcoma skos:exactMatch UMLS:C1333778 semapv:UnspecifiedMatching MONDO:0003593 breast liposarcoma skos:exactMatch DOID:5701 breast liposarcoma semapv:UnspecifiedMatching MONDO:0003593 breast liposarcoma skos:exactMatch MEDGEN:231968 semapv:UnspecifiedMatching MONDO:0003593 breast liposarcoma skos:exactMatch NCIT:C5187 Breast Liposarcoma semapv:UnspecifiedMatching MONDO:0003593 breast liposarcoma skos:exactMatch UMLS:C1332632 semapv:UnspecifiedMatching MONDO:0003594 mixed liposarcoma skos:exactMatch DOID:5703 mixed liposarcoma semapv:UnspecifiedMatching MONDO:0003594 mixed liposarcoma skos:exactMatch MEDGEN:87249 semapv:UnspecifiedMatching MONDO:0003594 mixed liposarcoma skos:exactMatch NCIT:C4253 Mixed Liposarcoma semapv:UnspecifiedMatching MONDO:0003594 mixed liposarcoma skos:exactMatch UMLS:C0334472 semapv:UnspecifiedMatching MONDO:0003595 sclerosing liposarcoma skos:exactMatch DOID:5704 sclerosing liposarcoma semapv:UnspecifiedMatching MONDO:0003595 sclerosing liposarcoma skos:exactMatch MEDGEN:137767 semapv:UnspecifiedMatching MONDO:0003595 sclerosing liposarcoma skos:exactMatch NCIT:C6507 Sclerosing Atypical Lipomatous Tumor/Well Differentiated Liposarcoma semapv:UnspecifiedMatching MONDO:0003595 sclerosing liposarcoma skos:exactMatch SCTID:404068003 semapv:UnspecifiedMatching MONDO:0003595 sclerosing liposarcoma skos:exactMatch UMLS:C0334469 semapv:UnspecifiedMatching MONDO:0003596 spindle cell liposarcoma skos:exactMatch DOID:5705 spindle cell liposarcoma semapv:UnspecifiedMatching MONDO:0003596 spindle cell liposarcoma skos:exactMatch MEDGEN:266156 semapv:UnspecifiedMatching MONDO:0003596 spindle cell liposarcoma skos:exactMatch NCIT:C27489 Atypical Spindle Cell/Pleomorphic Lipomatous Tumor semapv:UnspecifiedMatching MONDO:0003596 spindle cell liposarcoma skos:exactMatch SCTID:404073009 semapv:UnspecifiedMatching MONDO:0003596 spindle cell liposarcoma skos:exactMatch UMLS:C1275275 semapv:UnspecifiedMatching MONDO:0003598 median nerve neuropathy skos:exactMatch DOID:571 median neuropathy semapv:UnspecifiedMatching MONDO:0003598 median nerve neuropathy skos:exactMatch MEDGEN:199766 semapv:UnspecifiedMatching MONDO:0003598 median nerve neuropathy skos:exactMatch SCTID:397828008 semapv:UnspecifiedMatching MONDO:0003598 median nerve neuropathy skos:exactMatch UMLS:C0751922 semapv:UnspecifiedMatching MONDO:0003598 median nerve neuropathy skos:exactMatch mesh:D020423 semapv:UnspecifiedMatching MONDO:0003599 vulvar liposarcoma skos:exactMatch DOID:5711 vulvar liposarcoma semapv:UnspecifiedMatching MONDO:0003599 vulvar liposarcoma skos:exactMatch MEDGEN:412161 semapv:UnspecifiedMatching MONDO:0003599 vulvar liposarcoma skos:exactMatch NCIT:C40321 Vulvar Liposarcoma semapv:UnspecifiedMatching MONDO:0003599 vulvar liposarcoma skos:exactMatch UMLS:C2184082 semapv:UnspecifiedMatching MONDO:0003600 cutaneous liposarcoma skos:exactMatch DOID:5712 cutaneous liposarcoma semapv:UnspecifiedMatching MONDO:0003600 cutaneous liposarcoma skos:exactMatch MEDGEN:232398 semapv:UnspecifiedMatching MONDO:0003600 cutaneous liposarcoma skos:exactMatch NCIT:C5615 Skin Liposarcoma semapv:UnspecifiedMatching MONDO:0003600 cutaneous liposarcoma skos:exactMatch UMLS:C1333175 semapv:UnspecifiedMatching MONDO:0003601 mediastinum liposarcoma skos:exactMatch DOID:5713 mediastinum liposarcoma semapv:UnspecifiedMatching MONDO:0003601 mediastinum liposarcoma skos:exactMatch MEDGEN:233683 semapv:UnspecifiedMatching MONDO:0003601 mediastinum liposarcoma skos:exactMatch NCIT:C6614 Mediastinal Liposarcoma semapv:UnspecifiedMatching MONDO:0003601 mediastinum liposarcoma skos:exactMatch UMLS:C1334663 semapv:UnspecifiedMatching MONDO:0003602 intracranial liposarcoma skos:exactMatch DOID:5714 intracranial liposarcoma semapv:UnspecifiedMatching MONDO:0003602 intracranial liposarcoma skos:exactMatch MEDGEN:232663 semapv:UnspecifiedMatching MONDO:0003602 intracranial liposarcoma skos:exactMatch NCIT:C6973 Brain Liposarcoma semapv:UnspecifiedMatching MONDO:0003602 intracranial liposarcoma skos:exactMatch UMLS:C1334242 semapv:UnspecifiedMatching MONDO:0003603 non-functioning pituitary gland neoplasm skos:exactMatch MEDGEN:756062 semapv:UnspecifiedMatching MONDO:0003603 non-functioning pituitary gland neoplasm skos:exactMatch SCTID:448563005 semapv:UnspecifiedMatching MONDO:0003603 non-functioning pituitary gland neoplasm skos:exactMatch UMLS:C3163649 semapv:UnspecifiedMatching MONDO:0003604 functioning pituitary gland neoplasm skos:exactMatch DOID:5716 hormone producing pituitary cancer semapv:UnspecifiedMatching MONDO:0003604 functioning pituitary gland neoplasm skos:exactMatch MEDGEN:163414 semapv:UnspecifiedMatching MONDO:0003604 functioning pituitary gland neoplasm skos:exactMatch SCTID:448148000 semapv:UnspecifiedMatching MONDO:0003604 functioning pituitary gland neoplasm skos:exactMatch UMLS:C0851693 semapv:UnspecifiedMatching MONDO:0003606 adrenal medulla cancer skos:exactMatch DOID:5719 adrenal medulla cancer semapv:UnspecifiedMatching MONDO:0003606 adrenal medulla cancer skos:exactMatch MEDGEN:87485 semapv:UnspecifiedMatching MONDO:0003606 adrenal medulla cancer skos:exactMatch NCIT:C4396 Malignant Adrenal Medulla Neoplasm semapv:UnspecifiedMatching MONDO:0003606 adrenal medulla cancer skos:exactMatch SCTID:371965009 semapv:UnspecifiedMatching MONDO:0003606 adrenal medulla cancer skos:exactMatch UMLS:C0344456 semapv:UnspecifiedMatching MONDO:0003606 adrenal medulla cancer skos:exactMatch icd11.foundation:1603907778 Malignant neoplasm of medulla of adrenal gland semapv:UnspecifiedMatching MONDO:0003607 neuritis of upper limb skos:exactMatch DOID:572 mononeuritis of upper limb and mononeuritis multiplex semapv:UnspecifiedMatching MONDO:0003607 neuritis of upper limb skos:exactMatch MEDGEN:509640 semapv:UnspecifiedMatching MONDO:0003607 neuritis of upper limb skos:exactMatch UMLS:C0154741 semapv:UnspecifiedMatching MONDO:0003608 optic atrophy skos:exactMatch DOID:5723 optic atrophy semapv:UnspecifiedMatching MONDO:0003608 optic atrophy skos:exactMatch ICD10CM:H47.2 Optic atrophy semapv:UnspecifiedMatching MONDO:0003608 optic atrophy skos:exactMatch MEDGEN:18180 semapv:UnspecifiedMatching MONDO:0003608 optic atrophy skos:exactMatch NCIT:C34863 Optic Atrophy semapv:UnspecifiedMatching MONDO:0003608 optic atrophy skos:exactMatch SCTID:76976005 semapv:UnspecifiedMatching MONDO:0003608 optic atrophy skos:exactMatch UMLS:C0029124 semapv:UnspecifiedMatching MONDO:0003608 optic atrophy skos:exactMatch icd11.foundation:568505454 Optic atrophy semapv:UnspecifiedMatching MONDO:0003608 optic atrophy skos:exactMatch mesh:D009896 semapv:UnspecifiedMatching MONDO:0003609 seminal vesicle cystadenoma skos:exactMatch DOID:5724 seminal vesicle cystadenoma semapv:UnspecifiedMatching MONDO:0003609 seminal vesicle cystadenoma skos:exactMatch MEDGEN:274209 semapv:UnspecifiedMatching MONDO:0003609 seminal vesicle cystadenoma skos:exactMatch NCIT:C39907 Seminal Vesicle Cystadenoma semapv:UnspecifiedMatching MONDO:0003609 seminal vesicle cystadenoma skos:exactMatch UMLS:C1519234 semapv:UnspecifiedMatching MONDO:0003610 rete ovarii cystadenoma skos:exactMatch DOID:5725 rete ovarii cystadenoma semapv:UnspecifiedMatching MONDO:0003610 rete ovarii cystadenoma skos:exactMatch MEDGEN:308160 semapv:UnspecifiedMatching MONDO:0003610 rete ovarii cystadenoma skos:exactMatch NCIT:C40019 Rete Ovarii Cystadenoma semapv:UnspecifiedMatching MONDO:0003610 rete ovarii cystadenoma skos:exactMatch UMLS:C1514907 semapv:UnspecifiedMatching MONDO:0003611 uterine ligament papillary cystadenoma associated with von Hippel-Lindau disease skos:exactMatch DOID:5726 uterine ligament papillary cystadenoma associated with von Hippel-Lindau disease semapv:UnspecifiedMatching MONDO:0003611 uterine ligament papillary cystadenoma associated with von Hippel-Lindau disease skos:exactMatch MEDGEN:770964 semapv:UnspecifiedMatching MONDO:0003611 uterine ligament papillary cystadenoma associated with von Hippel-Lindau disease skos:exactMatch NCIT:C40142 Von Hippel Lindau Syndrome-Associated Uterine Ligament Papillary Cystadenoma semapv:UnspecifiedMatching MONDO:0003611 uterine ligament papillary cystadenoma associated with von Hippel-Lindau disease skos:exactMatch UMLS:C3642324 semapv:UnspecifiedMatching MONDO:0003612 uterine ligament cancer skos:exactMatch DOID:5727 uterine ligament cancer semapv:UnspecifiedMatching MONDO:0003612 uterine ligament cancer skos:exactMatch MEDGEN:923070 semapv:UnspecifiedMatching MONDO:0003612 uterine ligament cancer skos:exactMatch NCIT:C126498 Malignant Uterine Ligament Neoplasm semapv:UnspecifiedMatching MONDO:0003612 uterine ligament cancer skos:exactMatch UMLS:C0864950 semapv:UnspecifiedMatching MONDO:0003614 intravenous leiomyomatosis skos:exactMatch DOID:5729 intravenous leiomyomatosis semapv:UnspecifiedMatching MONDO:0003614 intravenous leiomyomatosis skos:exactMatch MEDGEN:83417 semapv:UnspecifiedMatching MONDO:0003614 intravenous leiomyomatosis skos:exactMatch NCIT:C4518 Intravenous Leiomyomatosis semapv:UnspecifiedMatching MONDO:0003614 intravenous leiomyomatosis skos:exactMatch SCTID:254883003 semapv:UnspecifiedMatching MONDO:0003614 intravenous leiomyomatosis skos:exactMatch UMLS:C0346200 semapv:UnspecifiedMatching MONDO:0003615 nerve compression syndrome skos:exactMatch DOID:573 nerve compression syndrome semapv:UnspecifiedMatching MONDO:0003615 nerve compression syndrome skos:exactMatch EFO:0009487 semapv:UnspecifiedMatching MONDO:0003615 nerve compression syndrome skos:exactMatch MEDGEN:266933 semapv:UnspecifiedMatching MONDO:0003615 nerve compression syndrome skos:exactMatch NCIT:C27221 Entrapment Neuropathy semapv:UnspecifiedMatching MONDO:0003615 nerve compression syndrome skos:exactMatch SCTID:45781009 semapv:UnspecifiedMatching MONDO:0003615 nerve compression syndrome skos:exactMatch UMLS:C1510429 semapv:UnspecifiedMatching MONDO:0003615 nerve compression syndrome skos:exactMatch mesh:D009408 semapv:UnspecifiedMatching MONDO:0003616 salpingitis isthmica nodosa skos:exactMatch DOID:5730 salpingitis isthmica nodosa semapv:UnspecifiedMatching MONDO:0003616 salpingitis isthmica nodosa skos:exactMatch MEDGEN:82840 semapv:UnspecifiedMatching MONDO:0003616 salpingitis isthmica nodosa skos:exactMatch NCIT:C40119 Salpingitis Isthmica Nodosa semapv:UnspecifiedMatching MONDO:0003616 salpingitis isthmica nodosa skos:exactMatch SCTID:36742000 semapv:UnspecifiedMatching MONDO:0003616 salpingitis isthmica nodosa skos:exactMatch UMLS:C0269043 semapv:UnspecifiedMatching MONDO:0003616 salpingitis isthmica nodosa skos:exactMatch icd11.foundation:1586025352 Salpingitis isthmica nodosa semapv:UnspecifiedMatching MONDO:0003617 chronic salpingitis skos:exactMatch DOID:5731 chronic salpingitis semapv:UnspecifiedMatching MONDO:0003617 chronic salpingitis skos:exactMatch ICD10CM:N70.11 Chronic salpingitis semapv:UnspecifiedMatching MONDO:0003617 chronic salpingitis skos:exactMatch MEDGEN:82839 semapv:UnspecifiedMatching MONDO:0003617 chronic salpingitis skos:exactMatch NCIT:C40118 Chronic Salpingitis semapv:UnspecifiedMatching MONDO:0003617 chronic salpingitis skos:exactMatch SCTID:55551005 semapv:UnspecifiedMatching MONDO:0003617 chronic salpingitis skos:exactMatch UMLS:C0269041 semapv:UnspecifiedMatching MONDO:0003617 chronic salpingitis skos:exactMatch icd11.foundation:1932766800 Chronic salpingitis semapv:UnspecifiedMatching MONDO:0003618 pyosalpinx skos:exactMatch DOID:5732 pyosalpinx semapv:UnspecifiedMatching MONDO:0003618 pyosalpinx skos:exactMatch MEDGEN:18785 semapv:UnspecifiedMatching MONDO:0003618 pyosalpinx skos:exactMatch NCIT:C34968 Pyosalpinx semapv:UnspecifiedMatching MONDO:0003618 pyosalpinx skos:exactMatch SCTID:397810006 semapv:UnspecifiedMatching MONDO:0003618 pyosalpinx skos:exactMatch UMLS:C0034220 semapv:UnspecifiedMatching MONDO:0003619 salpingitis skos:exactMatch DOID:5733 salpingitis semapv:UnspecifiedMatching MONDO:0003619 salpingitis skos:exactMatch MEDGEN:20646 semapv:UnspecifiedMatching MONDO:0003619 salpingitis skos:exactMatch NCIT:C26880 Salpingitis semapv:UnspecifiedMatching MONDO:0003619 salpingitis skos:exactMatch SCTID:88157006 semapv:UnspecifiedMatching MONDO:0003619 salpingitis skos:exactMatch UMLS:C0036130 semapv:UnspecifiedMatching MONDO:0003619 salpingitis skos:exactMatch mesh:D012488 semapv:UnspecifiedMatching MONDO:0003620 peripheral nervous system disorder skos:exactMatch DOID:574 peripheral nervous system disease semapv:UnspecifiedMatching MONDO:0003620 peripheral nervous system disorder skos:exactMatch EFO:0009387 semapv:UnspecifiedMatching MONDO:0003620 peripheral nervous system disorder skos:exactMatch MEDGEN:892389 semapv:UnspecifiedMatching MONDO:0003620 peripheral nervous system disorder skos:exactMatch NCIT:C27580 Peripheral Nervous System Disorder semapv:UnspecifiedMatching MONDO:0003620 peripheral nervous system disorder skos:exactMatch SCTID:42658009 semapv:UnspecifiedMatching MONDO:0003620 peripheral nervous system disorder skos:exactMatch UMLS:C4025831 semapv:UnspecifiedMatching MONDO:0003620 peripheral nervous system disorder skos:exactMatch mesh:D010523 semapv:UnspecifiedMatching MONDO:0003621 small intestinal vasoactive intestinal peptide producing tumor skos:exactMatch DOID:5740 small intestinal vasoactive intestinal peptide producing tumor semapv:UnspecifiedMatching MONDO:0003621 small intestinal vasoactive intestinal peptide producing tumor skos:exactMatch MEDGEN:277655 semapv:UnspecifiedMatching MONDO:0003621 small intestinal vasoactive intestinal peptide producing tumor skos:exactMatch NCIT:C27455 Small Intestinal VIP-Producing Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO:0003621 small intestinal vasoactive intestinal peptide producing tumor skos:exactMatch UMLS:C1336009 semapv:UnspecifiedMatching MONDO:0003622 pancreatic vasoactive intestinal peptide producing tumor skos:exactMatch DOID:5741 pancreatic vasoactive intestinal peptide producing tumor semapv:UnspecifiedMatching MONDO:0003622 pancreatic vasoactive intestinal peptide producing tumor skos:exactMatch MEDGEN:453212 semapv:UnspecifiedMatching MONDO:0003622 pancreatic vasoactive intestinal peptide producing tumor skos:exactMatch NCIT:C27454 Pancreatic VIP-Producing Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO:0003622 pancreatic vasoactive intestinal peptide producing tumor skos:exactMatch UMLS:C2033037 semapv:UnspecifiedMatching MONDO:0003624 acinic cell breast carcinoma skos:exactMatch DOID:5743 acinic cell breast carcinoma semapv:UnspecifiedMatching MONDO:0003624 acinic cell breast carcinoma skos:exactMatch MEDGEN:272988 semapv:UnspecifiedMatching MONDO:0003624 acinic cell breast carcinoma skos:exactMatch NCIT:C40367 Breast Acinic Cell Carcinoma semapv:UnspecifiedMatching MONDO:0003624 acinic cell breast carcinoma skos:exactMatch UMLS:C1515868 semapv:UnspecifiedMatching MONDO:0003626 uterine ligament serous adenocarcinoma skos:exactMatch DOID:5747 uterine ligament serous adenocarcinoma semapv:UnspecifiedMatching MONDO:0003626 uterine ligament serous adenocarcinoma skos:exactMatch MEDGEN:275561 semapv:UnspecifiedMatching MONDO:0003626 uterine ligament serous adenocarcinoma skos:exactMatch NCIT:C40136 Uterine Ligament Serous Adenocarcinoma semapv:UnspecifiedMatching MONDO:0003626 uterine ligament serous adenocarcinoma skos:exactMatch UMLS:C1519872 semapv:UnspecifiedMatching MONDO:0003627 rheumatic pulmonary valve disease skos:exactMatch DOID:5748 rheumatic pulmonary valve disease semapv:UnspecifiedMatching MONDO:0003627 rheumatic pulmonary valve disease skos:exactMatch MEDGEN:510027 semapv:UnspecifiedMatching MONDO:0003627 rheumatic pulmonary valve disease skos:exactMatch SCTID:18687009 semapv:UnspecifiedMatching MONDO:0003627 rheumatic pulmonary valve disease skos:exactMatch UMLS:C0155579 semapv:UnspecifiedMatching MONDO:0003628 pulmonary valve disorder skos:exactMatch DOID:5749 pulmonary valve disease semapv:UnspecifiedMatching MONDO:0003628 pulmonary valve disorder skos:exactMatch EFO:0009564 semapv:UnspecifiedMatching MONDO:0003628 pulmonary valve disorder skos:exactMatch MEDGEN:18767 semapv:UnspecifiedMatching MONDO:0003628 pulmonary valve disorder skos:exactMatch NCIT:C78579 Pulmonary Valve Disorder semapv:UnspecifiedMatching MONDO:0003628 pulmonary valve disorder skos:exactMatch SCTID:76267008 semapv:UnspecifiedMatching MONDO:0003628 pulmonary valve disorder skos:exactMatch UMLS:C0034087 semapv:UnspecifiedMatching MONDO:0003628 pulmonary valve disorder skos:exactMatch icd11.foundation:1146446025 Pulmonary valve disease semapv:UnspecifiedMatching MONDO:0003630 pancreatic serous cystadenocarcinoma skos:exactMatch DOID:5751 pancreatic serous cystadenocarcinoma semapv:UnspecifiedMatching MONDO:0003630 pancreatic serous cystadenocarcinoma skos:exactMatch MEDGEN:233832 semapv:UnspecifiedMatching MONDO:0003630 pancreatic serous cystadenocarcinoma skos:exactMatch NCIT:C5724 Pancreatic Serous Cystadenocarcinoma semapv:UnspecifiedMatching MONDO:0003630 pancreatic serous cystadenocarcinoma skos:exactMatch Orphanet:424073 Serous cystadenocarcinoma of pancreas semapv:UnspecifiedMatching MONDO:0003630 pancreatic serous cystadenocarcinoma skos:exactMatch UMLS:C1335315 semapv:UnspecifiedMatching MONDO:0003630 pancreatic serous cystadenocarcinoma skos:exactMatch icd11.foundation:1624575808 Serous cystadenocarcinoma of pancreas semapv:UnspecifiedMatching MONDO:0003631 cervical serous adenocarcinoma skos:exactMatch DOID:5752 cervical serous adenocarcinoma semapv:UnspecifiedMatching MONDO:0003631 cervical serous adenocarcinoma skos:exactMatch MEDGEN:308950 semapv:UnspecifiedMatching MONDO:0003631 cervical serous adenocarcinoma skos:exactMatch NCIT:C40201 Cervical Serous Adenocarcinoma semapv:UnspecifiedMatching MONDO:0003631 cervical serous adenocarcinoma skos:exactMatch UMLS:C1516431 semapv:UnspecifiedMatching MONDO:0003632 endocervicitis skos:exactMatch DOID:5757 endocervicitis semapv:UnspecifiedMatching MONDO:0003632 endocervicitis skos:exactMatch MEDGEN:4942 semapv:UnspecifiedMatching MONDO:0003632 endocervicitis skos:exactMatch NCIT:C26762 Endocervicitis semapv:UnspecifiedMatching MONDO:0003632 endocervicitis skos:exactMatch SCTID:31354001 semapv:UnspecifiedMatching MONDO:0003632 endocervicitis skos:exactMatch UMLS:C0014127 semapv:UnspecifiedMatching MONDO:0003632 endocervicitis skos:exactMatch icd11.foundation:803236221 Endocervicitis semapv:UnspecifiedMatching MONDO:0003633 malignant mesenchymoma skos:exactMatch DOID:5758 malignant mesenchymoma semapv:UnspecifiedMatching MONDO:0003633 malignant mesenchymoma skos:exactMatch MEDGEN:87252 semapv:UnspecifiedMatching MONDO:0003633 malignant mesenchymoma skos:exactMatch NCIT:C4268 Malignant Mesenchymoma semapv:UnspecifiedMatching MONDO:0003633 malignant mesenchymoma skos:exactMatch UMLS:C0334492 semapv:UnspecifiedMatching MONDO:0003634 proteinuria skos:exactMatch DOID:576 proteinuria semapv:UnspecifiedMatching MONDO:0003634 proteinuria skos:exactMatch ICD10CM:R80 Proteinuria semapv:UnspecifiedMatching MONDO:0003634 proteinuria skos:exactMatch MEDGEN:10976 semapv:UnspecifiedMatching MONDO:0003634 proteinuria skos:exactMatch UMLS:C0033687 semapv:UnspecifiedMatching MONDO:0003634 proteinuria skos:exactMatch icd11.foundation:930895737 Proteinuria semapv:UnspecifiedMatching MONDO:0003634 proteinuria skos:exactMatch mesh:D011507 semapv:UnspecifiedMatching MONDO:0003635 sebaceous breast carcinoma skos:exactMatch DOID:5760 sebaceous breast carcinoma semapv:UnspecifiedMatching MONDO:0003635 sebaceous breast carcinoma skos:exactMatch MEDGEN:276789 semapv:UnspecifiedMatching MONDO:0003635 sebaceous breast carcinoma skos:exactMatch NCIT:C40369 Breast Sebaceous Carcinoma semapv:UnspecifiedMatching MONDO:0003635 sebaceous breast carcinoma skos:exactMatch UMLS:C1519207 semapv:UnspecifiedMatching MONDO:0003636 vulvar sebaceous carcinoma skos:exactMatch DOID:5761 vulvar sebaceous carcinoma semapv:UnspecifiedMatching MONDO:0003636 vulvar sebaceous carcinoma skos:exactMatch MEDGEN:276996 semapv:UnspecifiedMatching MONDO:0003636 vulvar sebaceous carcinoma skos:exactMatch NCIT:C40309 Vulvar Sebaceous Carcinoma semapv:UnspecifiedMatching MONDO:0003636 vulvar sebaceous carcinoma skos:exactMatch UMLS:C1520094 semapv:UnspecifiedMatching MONDO:0003637 clear cell-sugar-tumor of the lung skos:exactMatch DOID:5763 lung clear cell-sugar-tumor semapv:UnspecifiedMatching MONDO:0003637 clear cell-sugar-tumor of the lung skos:exactMatch MEDGEN:232370 semapv:UnspecifiedMatching MONDO:0003637 clear cell-sugar-tumor of the lung skos:exactMatch NCIT:C38152 Lung Clear Cell Tumor semapv:UnspecifiedMatching MONDO:0003637 clear cell-sugar-tumor of the lung skos:exactMatch UMLS:C1333065 semapv:UnspecifiedMatching MONDO:0003638 lung meningioma skos:exactMatch DOID:5764 lung meningioma semapv:UnspecifiedMatching MONDO:0003638 lung meningioma skos:exactMatch MEDGEN:232712 semapv:UnspecifiedMatching MONDO:0003638 lung meningioma skos:exactMatch NCIT:C5668 Lung Meningioma semapv:UnspecifiedMatching MONDO:0003638 lung meningioma skos:exactMatch UMLS:C1334450 semapv:UnspecifiedMatching MONDO:0003639 lung hilum neoplasm skos:exactMatch DOID:5767 hilar lung neoplasm semapv:UnspecifiedMatching MONDO:0003639 lung hilum neoplasm skos:exactMatch MEDGEN:224849 semapv:UnspecifiedMatching MONDO:0003639 lung hilum neoplasm skos:exactMatch NCIT:C5671 Lung Hilum Neoplasm semapv:UnspecifiedMatching MONDO:0003639 lung hilum neoplasm skos:exactMatch SCTID:126707007 semapv:UnspecifiedMatching MONDO:0003639 lung hilum neoplasm skos:exactMatch UMLS:C1290358 semapv:UnspecifiedMatching MONDO:0003640 verruciform xanthoma of skin skos:exactMatch DOID:5769 verruciform xanthoma of skin semapv:UnspecifiedMatching MONDO:0003640 verruciform xanthoma of skin skos:exactMatch MEDGEN:91076 semapv:UnspecifiedMatching MONDO:0003640 verruciform xanthoma of skin skos:exactMatch NCIT:C4478 Cutaneous Verruciform Xanthoma semapv:UnspecifiedMatching MONDO:0003640 verruciform xanthoma of skin skos:exactMatch SCTID:254756007 semapv:UnspecifiedMatching MONDO:0003640 verruciform xanthoma of skin skos:exactMatch UMLS:C0346054 semapv:UnspecifiedMatching MONDO:0003641 central nervous system hematopoietic neoplasm skos:exactMatch DOID:5772 central nervous system hematologic cancer semapv:UnspecifiedMatching MONDO:0003641 central nervous system hematopoietic neoplasm skos:exactMatch MEDGEN:234101 semapv:UnspecifiedMatching MONDO:0003641 central nervous system hematopoietic neoplasm skos:exactMatch NCIT:C5503 Central Nervous System Hematopoietic and Lymphoid Cell Neoplasm semapv:UnspecifiedMatching MONDO:0003641 central nervous system hematopoietic neoplasm skos:exactMatch UMLS:C1332882 semapv:UnspecifiedMatching MONDO:0003643 giant hemangioma skos:exactMatch DOID:5774 giant hemangioma semapv:UnspecifiedMatching MONDO:0003643 giant hemangioma skos:exactMatch MEDGEN:272670 semapv:UnspecifiedMatching MONDO:0003643 giant hemangioma skos:exactMatch NCIT:C27777 Giant Hemangioma semapv:UnspecifiedMatching MONDO:0003643 giant hemangioma skos:exactMatch UMLS:C1333817 semapv:UnspecifiedMatching MONDO:0003644 cavernous hemangioma of colon skos:exactMatch DOID:5775 cavernous hemangioma of colon semapv:UnspecifiedMatching MONDO:0003644 cavernous hemangioma of colon skos:exactMatch MEDGEN:232084 semapv:UnspecifiedMatching MONDO:0003644 cavernous hemangioma of colon skos:exactMatch NCIT:C5395 Colon Cavernous Hemangioma semapv:UnspecifiedMatching MONDO:0003644 cavernous hemangioma of colon skos:exactMatch UMLS:C1333086 semapv:UnspecifiedMatching MONDO:0003645 cavernous hemangioma of face skos:exactMatch DOID:5776 cavernous hemangioma of face semapv:UnspecifiedMatching MONDO:0003645 cavernous hemangioma of face skos:exactMatch EFO:1000152 semapv:UnspecifiedMatching MONDO:0003645 cavernous hemangioma of face skos:exactMatch MEDGEN:234097 semapv:UnspecifiedMatching MONDO:0003645 cavernous hemangioma of face skos:exactMatch NCIT:C7053 Cavernous Hemangioma of the Face semapv:UnspecifiedMatching MONDO:0003645 cavernous hemangioma of face skos:exactMatch UMLS:C1332863 semapv:UnspecifiedMatching MONDO:0003646 rectum neuroendocrine neoplasm skos:exactMatch DOID:5777 rectum neuroendocrine neoplasm semapv:UnspecifiedMatching MONDO:0003646 rectum neuroendocrine neoplasm skos:exactMatch MEDGEN:277576 semapv:UnspecifiedMatching MONDO:0003646 rectum neuroendocrine neoplasm skos:exactMatch NCIT:C5698 Rectal Neuroendocrine Neoplasm semapv:UnspecifiedMatching MONDO:0003646 rectum neuroendocrine neoplasm skos:exactMatch UMLS:C1335686 semapv:UnspecifiedMatching MONDO:0003646 rectum neuroendocrine neoplasm skos:exactMatch icd11.foundation:1619951900 Rectal neuroendocrine neoplasm semapv:UnspecifiedMatching MONDO:0003647 atrophic flaccid tympanic membrane skos:exactMatch DOID:5781 atrophic flaccid tympanic membrane semapv:UnspecifiedMatching MONDO:0003647 atrophic flaccid tympanic membrane skos:exactMatch ICD10CM:H73.81 Atrophic flaccid tympanic membrane semapv:UnspecifiedMatching MONDO:0003647 atrophic flaccid tympanic membrane skos:exactMatch MEDGEN:509982 semapv:UnspecifiedMatching MONDO:0003647 atrophic flaccid tympanic membrane skos:exactMatch SCTID:38645004 semapv:UnspecifiedMatching MONDO:0003647 atrophic flaccid tympanic membrane skos:exactMatch UMLS:C0155470 semapv:UnspecifiedMatching MONDO:0003648 tympanic membrane disorder skos:exactMatch DOID:5782 tympanic membrane disease semapv:UnspecifiedMatching MONDO:0003648 tympanic membrane disorder skos:exactMatch EFO:0009570 semapv:UnspecifiedMatching MONDO:0003648 tympanic membrane disorder skos:exactMatch MEDGEN:508258 semapv:UnspecifiedMatching MONDO:0003648 tympanic membrane disorder skos:exactMatch SCTID:21426000 semapv:UnspecifiedMatching MONDO:0003648 tympanic membrane disorder skos:exactMatch UMLS:C0041825 semapv:UnspecifiedMatching MONDO:0003649 esophageal neuroendocrine tumor skos:exactMatch DOID:5784 esophageal neuroendocrine tumor semapv:UnspecifiedMatching MONDO:0003649 esophageal neuroendocrine tumor skos:exactMatch MEDGEN:459486 semapv:UnspecifiedMatching MONDO:0003649 esophageal neuroendocrine tumor skos:exactMatch NCIT:C95616 Esophageal Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO:0003649 esophageal neuroendocrine tumor skos:exactMatch Orphanet:506136 Neuroendocrine neoplasm of esophagus semapv:UnspecifiedMatching MONDO:0003649 esophageal neuroendocrine tumor skos:exactMatch UMLS:C2987260 semapv:UnspecifiedMatching MONDO:0003649 esophageal neuroendocrine tumor skos:exactMatch icd11.foundation:1167478749 Neuroendocrine tumour of oesophagus semapv:UnspecifiedMatching MONDO:0003649 esophageal neuroendocrine tumor skos:exactMatch icd11.foundation:890879256 Neuroendocrine neoplasm of oesophagus semapv:UnspecifiedMatching MONDO:0003650 mixed hepatoblastoma skos:exactMatch DOID:5789 mixed hepatoblastoma semapv:UnspecifiedMatching MONDO:0003650 mixed hepatoblastoma skos:exactMatch MEDGEN:233194 semapv:UnspecifiedMatching MONDO:0003650 mixed hepatoblastoma skos:exactMatch NCIT:C7097 Mixed Epithelial and Mesenchymal Hepatoblastoma semapv:UnspecifiedMatching MONDO:0003650 mixed hepatoblastoma skos:exactMatch UMLS:C1334784 semapv:UnspecifiedMatching MONDO:0003651 macrotrabecular hepatoblastoma skos:exactMatch DOID:5798 macrotrabecular hepatoblastoma semapv:UnspecifiedMatching MONDO:0003651 macrotrabecular hepatoblastoma skos:exactMatch MEDGEN:233654 semapv:UnspecifiedMatching MONDO:0003651 macrotrabecular hepatoblastoma skos:exactMatch NCIT:C7095 Macrotrabecular Hepatoblastoma semapv:UnspecifiedMatching MONDO:0003651 macrotrabecular hepatoblastoma skos:exactMatch UMLS:C1334543 semapv:UnspecifiedMatching MONDO:0003652 acute urate nephropathy skos:exactMatch DOID:580 uric acid nephrolithiasis semapv:UnspecifiedMatching MONDO:0003652 acute urate nephropathy skos:exactMatch MEDGEN:574593 semapv:UnspecifiedMatching MONDO:0003652 acute urate nephropathy skos:exactMatch NCIT:C123037 Uric Acid Nephrolithiasis semapv:UnspecifiedMatching MONDO:0003652 acute urate nephropathy skos:exactMatch SCTID:236496000 semapv:UnspecifiedMatching MONDO:0003652 acute urate nephropathy skos:exactMatch UMLS:C0341712 semapv:UnspecifiedMatching MONDO:0003652 acute urate nephropathy skos:exactMatch icd11.foundation:1011901523 Acute urate nephropathy semapv:UnspecifiedMatching MONDO:0003653 stork bite skos:exactMatch DOID:5806 stork bite semapv:UnspecifiedMatching MONDO:0003653 stork bite skos:exactMatch MEDGEN:870384 semapv:UnspecifiedMatching MONDO:0003653 stork bite skos:exactMatch SCTID:254211001 semapv:UnspecifiedMatching MONDO:0003653 stork bite skos:exactMatch UMLS:C4024829 semapv:UnspecifiedMatching MONDO:0003653 stork bite skos:exactMatch icd11.foundation:400551861 Salmon patch semapv:UnspecifiedMatching MONDO:0003654 childhood parosteal osteosarcoma skos:exactMatch DOID:5809 childhood parosteal osteogenic sarcoma semapv:UnspecifiedMatching MONDO:0003654 childhood parosteal osteosarcoma skos:exactMatch MEDGEN:272467 semapv:UnspecifiedMatching MONDO:0003654 childhood parosteal osteosarcoma skos:exactMatch NCIT:C6589 Childhood Parosteal Osteosarcoma semapv:UnspecifiedMatching MONDO:0003654 childhood parosteal osteosarcoma skos:exactMatch UMLS:C1332994 semapv:UnspecifiedMatching MONDO:0003655 cerebral lymphoma skos:exactMatch DOID:5815 cerebral lymphoma semapv:UnspecifiedMatching MONDO:0003655 cerebral lymphoma skos:exactMatch MEDGEN:116109 semapv:UnspecifiedMatching MONDO:0003655 cerebral lymphoma skos:exactMatch NCIT:C7611 Cerebral Lymphoma semapv:UnspecifiedMatching MONDO:0003655 cerebral lymphoma skos:exactMatch SCTID:276836002 semapv:UnspecifiedMatching MONDO:0003655 cerebral lymphoma skos:exactMatch UMLS:C0240803 semapv:UnspecifiedMatching MONDO:0003656 hemoglobinuria skos:exactMatch DOID:582 hemoglobinuria semapv:UnspecifiedMatching MONDO:0003656 hemoglobinuria skos:exactMatch ICD10CM:R82.3 Hemoglobinuria semapv:UnspecifiedMatching MONDO:0003656 hemoglobinuria skos:exactMatch MEDGEN:6792 semapv:UnspecifiedMatching MONDO:0003656 hemoglobinuria skos:exactMatch UMLS:C0019048 semapv:UnspecifiedMatching MONDO:0003656 hemoglobinuria skos:exactMatch mesh:D006456 semapv:UnspecifiedMatching MONDO:0003658 B-cell lymphoma, unclassifiable, with features intermediate between diffuse large b-cell lymphoma and classical Hodgkin lymphoma skos:exactMatch DOID:5822 gray zone lymphoma semapv:UnspecifiedMatching MONDO:0003658 B-cell lymphoma, unclassifiable, with features intermediate between diffuse large b-cell lymphoma and classical Hodgkin lymphoma skos:exactMatch MEDGEN:234323 semapv:UnspecifiedMatching MONDO:0003658 B-cell lymphoma, unclassifiable, with features intermediate between diffuse large b-cell lymphoma and classical Hodgkin lymphoma skos:exactMatch NCIT:C37869 Gray-Zone Lymphoma semapv:UnspecifiedMatching MONDO:0003658 B-cell lymphoma, unclassifiable, with features intermediate between diffuse large b-cell lymphoma and classical Hodgkin lymphoma skos:exactMatch UMLS:C1333878 semapv:UnspecifiedMatching MONDO:0003659 pediatric lymphoma skos:exactMatch DOID:5823 childhood lymphoma semapv:UnspecifiedMatching MONDO:0003659 pediatric lymphoma skos:exactMatch MEDGEN:232062 semapv:UnspecifiedMatching MONDO:0003659 pediatric lymphoma skos:exactMatch NCIT:C5165 Childhood Lymphoma semapv:UnspecifiedMatching MONDO:0003659 pediatric lymphoma skos:exactMatch UMLS:C1332979 semapv:UnspecifiedMatching MONDO:0003660 adult lymphoma skos:exactMatch DOID:5825 adult lymphoma semapv:UnspecifiedMatching MONDO:0003660 adult lymphoma skos:exactMatch MEDGEN:233965 semapv:UnspecifiedMatching MONDO:0003660 adult lymphoma skos:exactMatch NCIT:C7587 Adult Lymphoma semapv:UnspecifiedMatching MONDO:0003660 adult lymphoma skos:exactMatch UMLS:C1332206 semapv:UnspecifiedMatching MONDO:0003661 breast lymphoma skos:exactMatch DOID:5826 breast lymphoma semapv:UnspecifiedMatching MONDO:0003661 breast lymphoma skos:exactMatch MEDGEN:309939 semapv:UnspecifiedMatching MONDO:0003661 breast lymphoma skos:exactMatch NCIT:C4671 Breast Lymphoma semapv:UnspecifiedMatching MONDO:0003661 breast lymphoma skos:exactMatch SCTID:278052009 semapv:UnspecifiedMatching MONDO:0003661 breast lymphoma skos:exactMatch UMLS:C1704251 semapv:UnspecifiedMatching MONDO:0003663 uterine ligament endometrioid adenocarcinoma skos:exactMatch DOID:5829 uterine ligament endometrioid adenocarcinoma semapv:UnspecifiedMatching MONDO:0003663 uterine ligament endometrioid adenocarcinoma skos:exactMatch NCIT:C40138 Broad Ligament Endometrioid Adenocarcinoma semapv:UnspecifiedMatching MONDO:0003664 hemolytic anemia skos:exactMatch DOID:583 hemolytic anemia semapv:UnspecifiedMatching MONDO:0003664 hemolytic anemia skos:exactMatch ICD10CM:D55-D59 Hemolytic anemias (D55-D59) semapv:UnspecifiedMatching MONDO:0003664 hemolytic anemia skos:exactMatch MEDGEN:1916 semapv:UnspecifiedMatching MONDO:0003664 hemolytic anemia skos:exactMatch NCIT:C34376 Hemolytic Anemia semapv:UnspecifiedMatching MONDO:0003664 hemolytic anemia skos:exactMatch SCTID:61261009 semapv:UnspecifiedMatching MONDO:0003664 hemolytic anemia skos:exactMatch UMLS:C0002878 semapv:UnspecifiedMatching MONDO:0003664 hemolytic anemia skos:exactMatch mesh:D000743 semapv:UnspecifiedMatching MONDO:0003665 cervical endometrioid adenocarcinoma skos:exactMatch DOID:5830 cervical endometrioid adenocarcinoma semapv:UnspecifiedMatching MONDO:0003665 cervical endometrioid adenocarcinoma skos:exactMatch EFO:1000164 semapv:UnspecifiedMatching MONDO:0003665 cervical endometrioid adenocarcinoma skos:exactMatch MEDGEN:272450 semapv:UnspecifiedMatching MONDO:0003665 cervical endometrioid adenocarcinoma skos:exactMatch NCIT:C6343 Cervical Endometrioid Adenocarcinoma semapv:UnspecifiedMatching MONDO:0003665 cervical endometrioid adenocarcinoma skos:exactMatch UMLS:C1332913 semapv:UnspecifiedMatching MONDO:0003666 fallopian tube endometrioid adenocarcinoma skos:exactMatch DOID:5831 fallopian tube endometrioid adenocarcinoma semapv:UnspecifiedMatching MONDO:0003666 fallopian tube endometrioid adenocarcinoma skos:exactMatch MEDGEN:232185 semapv:UnspecifiedMatching MONDO:0003666 fallopian tube endometrioid adenocarcinoma skos:exactMatch NCIT:C6279 Fallopian Tube Endometrioid Adenocarcinoma semapv:UnspecifiedMatching MONDO:0003666 fallopian tube endometrioid adenocarcinoma skos:exactMatch UMLS:C1333592 semapv:UnspecifiedMatching MONDO:0003668 extragonadal seminoma skos:exactMatch DOID:5838 extragonadal seminoma semapv:UnspecifiedMatching MONDO:0003668 extragonadal seminoma skos:exactMatch MEDGEN:234243 semapv:UnspecifiedMatching MONDO:0003668 extragonadal seminoma skos:exactMatch NCIT:C7327 Extragonadal Seminoma semapv:UnspecifiedMatching MONDO:0003668 extragonadal seminoma skos:exactMatch UMLS:C1333502 semapv:UnspecifiedMatching MONDO:0003669 testicular seminoma skos:exactMatch DOID:5842 testis seminoma semapv:UnspecifiedMatching MONDO:0003669 testicular seminoma skos:exactMatch EFO:0003101 semapv:UnspecifiedMatching MONDO:0003669 testicular seminoma skos:exactMatch MEDGEN:1790467 semapv:UnspecifiedMatching MONDO:0003669 testicular seminoma skos:exactMatch NCIT:C7328 Testicular Seminoma semapv:UnspecifiedMatching MONDO:0003669 testicular seminoma skos:exactMatch Orphanet:842 Testicular seminomatous germ cell tumor semapv:UnspecifiedMatching MONDO:0003669 testicular seminoma skos:exactMatch SCTID:255107005 semapv:UnspecifiedMatching MONDO:0003669 testicular seminoma skos:exactMatch UMLS:C5551428 semapv:UnspecifiedMatching MONDO:0003670 posteroinferior myocardial infarction skos:exactMatch DOID:5843 posteroinferior myocardial infarction semapv:UnspecifiedMatching MONDO:0003670 posteroinferior myocardial infarction skos:exactMatch MEDGEN:216044 semapv:UnspecifiedMatching MONDO:0003670 posteroinferior myocardial infarction skos:exactMatch UMLS:C1142433 semapv:UnspecifiedMatching MONDO:0003671 septal myocardial infarction skos:exactMatch DOID:5846 septal myocardial infarction semapv:UnspecifiedMatching MONDO:0003671 septal myocardial infarction skos:exactMatch MEDGEN:148176 semapv:UnspecifiedMatching MONDO:0003671 septal myocardial infarction skos:exactMatch UMLS:C0746727 semapv:UnspecifiedMatching MONDO:0003672 posterior myocardial infarction skos:exactMatch DOID:5847 posterior myocardial infarction semapv:UnspecifiedMatching MONDO:0003672 posterior myocardial infarction skos:exactMatch MEDGEN:90949 semapv:UnspecifiedMatching MONDO:0003672 posterior myocardial infarction skos:exactMatch SCTID:194802003 semapv:UnspecifiedMatching MONDO:0003672 posterior myocardial infarction skos:exactMatch UMLS:C0340319 semapv:UnspecifiedMatching MONDO:0003673 apical myocardial infarction skos:exactMatch DOID:5848 apical myocardial infarction semapv:UnspecifiedMatching MONDO:0003673 apical myocardial infarction skos:exactMatch MEDGEN:770959 semapv:UnspecifiedMatching MONDO:0003673 apical myocardial infarction skos:exactMatch UMLS:C3642319 semapv:UnspecifiedMatching MONDO:0003674 subendocardial myocardial infarction skos:exactMatch DOID:5849 subendocardial myocardial infarction semapv:UnspecifiedMatching MONDO:0003674 subendocardial myocardial infarction skos:exactMatch MEDGEN:75500 semapv:UnspecifiedMatching MONDO:0003674 subendocardial myocardial infarction skos:exactMatch UMLS:C0262568 semapv:UnspecifiedMatching MONDO:0003675 posterolateral myocardial infarction skos:exactMatch DOID:5851 posterolateral myocardial infarction semapv:UnspecifiedMatching MONDO:0003675 posterolateral myocardial infarction skos:exactMatch MEDGEN:207274 semapv:UnspecifiedMatching MONDO:0003675 posterolateral myocardial infarction skos:exactMatch UMLS:C1112662 semapv:UnspecifiedMatching MONDO:0003676 inferolateral myocardial infarct skos:exactMatch DOID:5852 inferolateral myocardial infarct semapv:UnspecifiedMatching MONDO:0003676 inferolateral myocardial infarct skos:exactMatch MEDGEN:760761 semapv:UnspecifiedMatching MONDO:0003676 inferolateral myocardial infarct skos:exactMatch UMLS:C3537017 semapv:UnspecifiedMatching MONDO:0003677 lateral myocardial infarction skos:exactMatch DOID:5853 lateral myocardial infarction semapv:UnspecifiedMatching MONDO:0003677 lateral myocardial infarction skos:exactMatch MEDGEN:83306 semapv:UnspecifiedMatching MONDO:0003677 lateral myocardial infarction skos:exactMatch UMLS:C0340312 semapv:UnspecifiedMatching MONDO:0003678 silent myocardial infarction skos:exactMatch DOID:5854 silent myocardial infarction semapv:UnspecifiedMatching MONDO:0003678 silent myocardial infarction skos:exactMatch MEDGEN:83307 semapv:UnspecifiedMatching MONDO:0003678 silent myocardial infarction skos:exactMatch NCIT:C35400 Silent Myocardial Infarction semapv:UnspecifiedMatching MONDO:0003678 silent myocardial infarction skos:exactMatch SCTID:233843008 semapv:UnspecifiedMatching MONDO:0003678 silent myocardial infarction skos:exactMatch UMLS:C0340324 semapv:UnspecifiedMatching MONDO:0003679 anteroseptal myocardial infarction skos:exactMatch DOID:5855 anteroseptal myocardial infarction semapv:UnspecifiedMatching MONDO:0003679 anteroseptal myocardial infarction skos:exactMatch MEDGEN:78087 semapv:UnspecifiedMatching MONDO:0003679 anteroseptal myocardial infarction skos:exactMatch UMLS:C0262565 semapv:UnspecifiedMatching MONDO:0003680 periosteal chondrosarcoma skos:exactMatch DOID:5859 periosteal chondrosarcoma semapv:UnspecifiedMatching MONDO:0003680 periosteal chondrosarcoma skos:exactMatch DOID:5866 juxtacortical chondrosarcoma semapv:UnspecifiedMatching MONDO:0003680 periosteal chondrosarcoma skos:exactMatch MEDGEN:90806 semapv:UnspecifiedMatching MONDO:0003680 periosteal chondrosarcoma skos:exactMatch NCIT:C7357 Periosteal Chondrosarcoma semapv:UnspecifiedMatching MONDO:0003680 periosteal chondrosarcoma skos:exactMatch UMLS:C0334549 semapv:UnspecifiedMatching MONDO:0003681 myxoid chondrosarcoma skos:exactMatch DOID:5861 myxoid chondrosarcoma semapv:UnspecifiedMatching MONDO:0003681 myxoid chondrosarcoma skos:exactMatch MEDGEN:87262 semapv:UnspecifiedMatching MONDO:0003681 myxoid chondrosarcoma skos:exactMatch UMLS:C0334551 semapv:UnspecifiedMatching MONDO:0003682 localized chondrosarcoma skos:exactMatch DOID:5862 localized chondrosarcoma semapv:UnspecifiedMatching MONDO:0003682 localized chondrosarcoma skos:exactMatch MEDGEN:163180 semapv:UnspecifiedMatching MONDO:0003682 localized chondrosarcoma skos:exactMatch NCIT:C8778 Localized Chondrosarcoma semapv:UnspecifiedMatching MONDO:0003682 localized chondrosarcoma skos:exactMatch UMLS:C0855011 semapv:UnspecifiedMatching MONDO:0003684 clear cell chondrosarcoma skos:exactMatch DOID:5867 clear cell chondrosarcoma semapv:UnspecifiedMatching MONDO:0003684 clear cell chondrosarcoma skos:exactMatch MEDGEN:226848 semapv:UnspecifiedMatching MONDO:0003684 clear cell chondrosarcoma skos:exactMatch NCIT:C6475 Clear Cell Chondrosarcoma semapv:UnspecifiedMatching MONDO:0003684 clear cell chondrosarcoma skos:exactMatch UMLS:C1266167 semapv:UnspecifiedMatching MONDO:0003685 retroperitoneal germ cell neoplasm skos:exactMatch DOID:5874 retroperitoneal germ cell neoplasm semapv:UnspecifiedMatching MONDO:0003685 retroperitoneal germ cell neoplasm skos:exactMatch MEDGEN:233406 semapv:UnspecifiedMatching MONDO:0003685 retroperitoneal germ cell neoplasm skos:exactMatch NCIT:C6447 Retroperitoneal Germ Cell Tumor semapv:UnspecifiedMatching MONDO:0003685 retroperitoneal germ cell neoplasm skos:exactMatch UMLS:C1335776 semapv:UnspecifiedMatching MONDO:0003686 apocrine sweat gland neoplasm skos:exactMatch DOID:5876 apocrine sweat gland neoplasm semapv:UnspecifiedMatching MONDO:0003686 apocrine sweat gland neoplasm skos:exactMatch MEDGEN:272320 semapv:UnspecifiedMatching MONDO:0003686 apocrine sweat gland neoplasm skos:exactMatch NCIT:C6798 Apocrine Neoplasm semapv:UnspecifiedMatching MONDO:0003686 apocrine sweat gland neoplasm skos:exactMatch UMLS:C1332318 semapv:UnspecifiedMatching MONDO:0003687 endocardium cancer skos:exactMatch DOID:5877 endocardium cancer semapv:UnspecifiedMatching MONDO:0003687 endocardium cancer skos:exactMatch MEDGEN:91107 semapv:UnspecifiedMatching MONDO:0003687 endocardium cancer skos:exactMatch NCIT:C4570 Malignant Endocardial Neoplasm semapv:UnspecifiedMatching MONDO:0003687 endocardium cancer skos:exactMatch SCTID:363436001 semapv:UnspecifiedMatching MONDO:0003687 endocardium cancer skos:exactMatch UMLS:C0346612 semapv:UnspecifiedMatching MONDO:0003688 well differentiated papillary mesothelioma skos:exactMatch DOID:5884 benign intermediate mesothelioma semapv:UnspecifiedMatching MONDO:0003688 well differentiated papillary mesothelioma skos:exactMatch MEDGEN:234487 semapv:UnspecifiedMatching MONDO:0003688 well differentiated papillary mesothelioma skos:exactMatch NCIT:C7635 Well Differentiated Papillary Mesothelial Tumor semapv:UnspecifiedMatching MONDO:0003688 well differentiated papillary mesothelioma skos:exactMatch UMLS:C1337012 semapv:UnspecifiedMatching MONDO:0003689 familial hemolytic anemia skos:exactMatch DOID:589 congenital hemolytic anemia semapv:UnspecifiedMatching MONDO:0003689 familial hemolytic anemia skos:exactMatch MEDGEN:1919 semapv:UnspecifiedMatching MONDO:0003689 familial hemolytic anemia skos:exactMatch NCIT:C34379 Hereditary Hemolytic Anemia semapv:UnspecifiedMatching MONDO:0003689 familial hemolytic anemia skos:exactMatch SCTID:42601008 semapv:UnspecifiedMatching MONDO:0003689 familial hemolytic anemia skos:exactMatch UMLS:C0002881 semapv:UnspecifiedMatching MONDO:0003689 familial hemolytic anemia skos:exactMatch mesh:D000745 semapv:UnspecifiedMatching MONDO:0003690 adult anaplastic ependymoma skos:exactMatch DOID:5890 malignant adult ependymoma semapv:UnspecifiedMatching MONDO:0003690 adult anaplastic ependymoma skos:exactMatch MEDGEN:83709 semapv:UnspecifiedMatching MONDO:0003690 adult anaplastic ependymoma skos:exactMatch NCIT:C8269 Adult Anaplastic Ependymoma semapv:UnspecifiedMatching MONDO:0003690 adult anaplastic ependymoma skos:exactMatch UMLS:C0280787 semapv:UnspecifiedMatching MONDO:0003691 childhood malignant mesenchymoma skos:exactMatch DOID:5893 childhood malignant mesenchymoma semapv:UnspecifiedMatching MONDO:0003691 childhood malignant mesenchymoma skos:exactMatch MEDGEN:124688 semapv:UnspecifiedMatching MONDO:0003691 childhood malignant mesenchymoma skos:exactMatch NCIT:C8097 Childhood Malignant Mesenchymoma semapv:UnspecifiedMatching MONDO:0003691 childhood malignant mesenchymoma skos:exactMatch UMLS:C0279991 semapv:UnspecifiedMatching MONDO:0003692 adult malignant mesenchymoma skos:exactMatch DOID:5894 adult malignant mesenchymoma semapv:UnspecifiedMatching MONDO:0003692 adult malignant mesenchymoma skos:exactMatch MEDGEN:83523 semapv:UnspecifiedMatching MONDO:0003692 adult malignant mesenchymoma skos:exactMatch NCIT:C7947 Adult Malignant Mesenchymoma semapv:UnspecifiedMatching MONDO:0003692 adult malignant mesenchymoma skos:exactMatch UMLS:C0279548 semapv:UnspecifiedMatching MONDO:0003693 clear cell cystadenofibroma skos:exactMatch DOID:5895 clear cell cystadenofibroma semapv:UnspecifiedMatching MONDO:0003693 clear cell cystadenofibroma skos:exactMatch MEDGEN:235121 semapv:UnspecifiedMatching MONDO:0003693 clear cell cystadenofibroma skos:exactMatch NCIT:C8988 Clear Cell Cystadenofibroma semapv:UnspecifiedMatching MONDO:0003693 clear cell cystadenofibroma skos:exactMatch UMLS:C1377853 semapv:UnspecifiedMatching MONDO:0003694 ovarian clear cell cystadenofibroma skos:exactMatch DOID:5896 ovarian clear cell cystadenofibroma semapv:UnspecifiedMatching MONDO:0003694 ovarian clear cell cystadenofibroma skos:exactMatch MEDGEN:275283 semapv:UnspecifiedMatching MONDO:0003694 ovarian clear cell cystadenofibroma skos:exactMatch NCIT:C40086 Ovarian Clear Cell Cystadenofibroma semapv:UnspecifiedMatching MONDO:0003694 ovarian clear cell cystadenofibroma skos:exactMatch UMLS:C1518695 semapv:UnspecifiedMatching MONDO:0003695 ovarian clear cell adenofibroma skos:exactMatch DOID:5897 ovarian clear cell adenofibroma semapv:UnspecifiedMatching MONDO:0003695 ovarian clear cell adenofibroma skos:exactMatch MEDGEN:309502 semapv:UnspecifiedMatching MONDO:0003695 ovarian clear cell adenofibroma skos:exactMatch NCIT:C40085 Ovarian Clear Cell Adenofibroma semapv:UnspecifiedMatching MONDO:0003695 ovarian clear cell adenofibroma skos:exactMatch UMLS:C1518694 semapv:UnspecifiedMatching MONDO:0003697 non-invasive verrucous carcinoma of the penis skos:exactMatch DOID:5907 penis non-invasive verrucous carcinoma semapv:UnspecifiedMatching MONDO:0003697 non-invasive verrucous carcinoma of the penis skos:exactMatch MEDGEN:233765 semapv:UnspecifiedMatching MONDO:0003697 non-invasive verrucous carcinoma of the penis skos:exactMatch UMLS:C1334984 semapv:UnspecifiedMatching MONDO:0003698 penis verrucous carcinoma skos:exactMatch DOID:5908 penis verrucous carcinoma semapv:UnspecifiedMatching MONDO:0003698 penis verrucous carcinoma skos:exactMatch MEDGEN:234477 semapv:UnspecifiedMatching MONDO:0003698 penis verrucous carcinoma skos:exactMatch NCIT:C6982 Penile Verrucous Carcinoma semapv:UnspecifiedMatching MONDO:0003698 penis verrucous carcinoma skos:exactMatch UMLS:C1336955 semapv:UnspecifiedMatching MONDO:0003699 phobic disorder skos:exactMatch DOID:591 phobic disorder semapv:UnspecifiedMatching MONDO:0003699 phobic disorder skos:exactMatch EFO:1001908 semapv:UnspecifiedMatching MONDO:0003699 phobic disorder skos:exactMatch MEDGEN:83881 semapv:UnspecifiedMatching MONDO:0003699 phobic disorder skos:exactMatch NCIT:C35420 Phobia semapv:UnspecifiedMatching MONDO:0003699 phobic disorder skos:exactMatch SCTID:386810004 semapv:UnspecifiedMatching MONDO:0003699 phobic disorder skos:exactMatch UMLS:C0349231 semapv:UnspecifiedMatching MONDO:0003699 phobic disorder skos:exactMatch mesh:D010698 semapv:UnspecifiedMatching MONDO:0003700 brachial plexus neoplasm skos:exactMatch DOID:5913 brachial plexus neoplasm semapv:UnspecifiedMatching MONDO:0003700 brachial plexus neoplasm skos:exactMatch MEDGEN:272380 semapv:UnspecifiedMatching MONDO:0003700 brachial plexus neoplasm skos:exactMatch NCIT:C5823 Brachial Plexus Neoplasm semapv:UnspecifiedMatching MONDO:0003700 brachial plexus neoplasm skos:exactMatch UMLS:C1332602 semapv:UnspecifiedMatching MONDO:0003701 thyroid gland diffuse sclerosing papillary carcinoma skos:exactMatch DOID:5914 diffuse sclerosing papillary thyroid carcinoma semapv:UnspecifiedMatching MONDO:0003701 thyroid gland diffuse sclerosing papillary carcinoma skos:exactMatch MEDGEN:87218 semapv:UnspecifiedMatching MONDO:0003701 thyroid gland diffuse sclerosing papillary carcinoma skos:exactMatch NCIT:C7427 Diffuse Sclerosing Variant Thyroid Gland Papillary Carcinoma semapv:UnspecifiedMatching MONDO:0003701 thyroid gland diffuse sclerosing papillary carcinoma skos:exactMatch UMLS:C0334330 semapv:UnspecifiedMatching MONDO:0003702 uterus intravascular leiomyomatosis skos:exactMatch DOID:5915 uterus intravascular leiomyomatosis semapv:UnspecifiedMatching MONDO:0003702 uterus intravascular leiomyomatosis skos:exactMatch NCIT:C5356 Uterine Corpus Intravenous Leiomyomatosis semapv:UnspecifiedMatching MONDO:0003704 uterine corpus diffuse leiomyomatosis skos:exactMatch DOID:5916 uterine corpus leiomyomatosis semapv:UnspecifiedMatching MONDO:0003704 uterine corpus diffuse leiomyomatosis skos:exactMatch DOID:5917 uterine corpus diffuse leiomyomatosis semapv:UnspecifiedMatching MONDO:0003704 uterine corpus diffuse leiomyomatosis skos:exactMatch MEDGEN:275556 semapv:UnspecifiedMatching MONDO:0003704 uterine corpus diffuse leiomyomatosis skos:exactMatch NCIT:C40170 Uterine Corpus Diffuse Leiomyomatosis semapv:UnspecifiedMatching MONDO:0003704 uterine corpus diffuse leiomyomatosis skos:exactMatch UMLS:C1519855 semapv:UnspecifiedMatching MONDO:0003705 adult brainstem mixed glioma skos:exactMatch DOID:5921 adult brainstem mixed glioma semapv:UnspecifiedMatching MONDO:0003705 adult brainstem mixed glioma skos:exactMatch MEDGEN:237180 semapv:UnspecifiedMatching MONDO:0003705 adult brainstem mixed glioma skos:exactMatch NCIT:C9371 Adult Brain Stem Mixed Glioma semapv:UnspecifiedMatching MONDO:0003705 adult brainstem mixed glioma skos:exactMatch UMLS:C1377915 semapv:UnspecifiedMatching MONDO:0003706 adult brainstem astrocytoma skos:exactMatch DOID:5922 adult brainstem astrocytoma semapv:UnspecifiedMatching MONDO:0003706 adult brainstem astrocytoma skos:exactMatch MEDGEN:233962 semapv:UnspecifiedMatching MONDO:0003706 adult brainstem astrocytoma skos:exactMatch NCIT:C6954 Adult Brain Stem Astrocytoma semapv:UnspecifiedMatching MONDO:0003706 adult brainstem astrocytoma skos:exactMatch UMLS:C1332191 semapv:UnspecifiedMatching MONDO:0003707 distal biliary tract carcinoma skos:exactMatch DOID:5923 distal biliary tract carcinoma semapv:UnspecifiedMatching MONDO:0003707 distal biliary tract carcinoma skos:exactMatch MEDGEN:232133 semapv:UnspecifiedMatching MONDO:0003707 distal biliary tract carcinoma skos:exactMatch NCIT:C7109 Distal Bile Duct Carcinoma semapv:UnspecifiedMatching MONDO:0003707 distal biliary tract carcinoma skos:exactMatch UMLS:C1333308 semapv:UnspecifiedMatching MONDO:0003708 extrahepatic bile duct small cell adenocarcinoma skos:exactMatch DOID:5926 extrahepatic bile duct small cell adenocarcinoma semapv:UnspecifiedMatching MONDO:0003708 extrahepatic bile duct small cell adenocarcinoma skos:exactMatch MEDGEN:277648 semapv:UnspecifiedMatching MONDO:0003708 extrahepatic bile duct small cell adenocarcinoma skos:exactMatch NCIT:C5845 Extrahepatic Bile Duct Small Cell Neuroendocrine Carcinoma semapv:UnspecifiedMatching MONDO:0003708 extrahepatic bile duct small cell adenocarcinoma skos:exactMatch UMLS:C1335979 semapv:UnspecifiedMatching MONDO:0003709 agoraphobia skos:exactMatch DOID:593 agoraphobia semapv:UnspecifiedMatching MONDO:0003709 agoraphobia skos:exactMatch EFO:1001872 semapv:UnspecifiedMatching MONDO:0003709 agoraphobia skos:exactMatch ICD10CM:F40.0 Agoraphobia semapv:UnspecifiedMatching MONDO:0003709 agoraphobia skos:exactMatch MEDGEN:175 semapv:UnspecifiedMatching MONDO:0003709 agoraphobia skos:exactMatch NCIT:C34362 Agoraphobia semapv:UnspecifiedMatching MONDO:0003709 agoraphobia skos:exactMatch SCTID:70691001 semapv:UnspecifiedMatching MONDO:0003709 agoraphobia skos:exactMatch UMLS:C0001818 semapv:UnspecifiedMatching MONDO:0003709 agoraphobia skos:exactMatch icd11.foundation:530592394 Agoraphobia semapv:UnspecifiedMatching MONDO:0003709 agoraphobia skos:exactMatch mesh:D000379 semapv:UnspecifiedMatching MONDO:0003710 ovarian mixed germ cell neoplasm skos:exactMatch DOID:5936 ovarian mixed germ cell neoplasm semapv:UnspecifiedMatching MONDO:0003710 ovarian mixed germ cell neoplasm skos:exactMatch MEDGEN:83602 semapv:UnspecifiedMatching MONDO:0003710 ovarian mixed germ cell neoplasm skos:exactMatch NCIT:C8114 Ovarian Mixed Germ Cell Tumor semapv:UnspecifiedMatching MONDO:0003710 ovarian mixed germ cell neoplasm skos:exactMatch UMLS:C0280135 semapv:UnspecifiedMatching MONDO:0003712 angiokeratoma of mibelli skos:exactMatch DOID:5948 angiokeratoma of mibelli semapv:UnspecifiedMatching MONDO:0003712 angiokeratoma of mibelli skos:exactMatch MEDGEN:78100 semapv:UnspecifiedMatching MONDO:0003712 angiokeratoma of mibelli skos:exactMatch NCIT:C3927 Angiokeratoma of Mibelli semapv:UnspecifiedMatching MONDO:0003712 angiokeratoma of mibelli skos:exactMatch SCTID:62727008 semapv:UnspecifiedMatching MONDO:0003712 angiokeratoma of mibelli skos:exactMatch UMLS:C0263640 semapv:UnspecifiedMatching MONDO:0003712 angiokeratoma of mibelli skos:exactMatch icd11.foundation:989688835 Angiokeratoma of Mibelli semapv:UnspecifiedMatching MONDO:0003713 angiokeratoma circumscriptum skos:exactMatch DOID:5949 angiokeratoma circumscriptum semapv:UnspecifiedMatching MONDO:0003713 angiokeratoma circumscriptum skos:exactMatch MEDGEN:120485 semapv:UnspecifiedMatching MONDO:0003713 angiokeratoma circumscriptum skos:exactMatch NCIT:C7751 Angiokeratoma Circumscriptum semapv:UnspecifiedMatching MONDO:0003713 angiokeratoma circumscriptum skos:exactMatch SCTID:21848000 semapv:UnspecifiedMatching MONDO:0003713 angiokeratoma circumscriptum skos:exactMatch UMLS:C0263638 semapv:UnspecifiedMatching MONDO:0003713 angiokeratoma circumscriptum skos:exactMatch icd11.foundation:225334653 Angiokeratoma circumscriptum semapv:UnspecifiedMatching MONDO:0003714 bladder urachal squamous cell carcinoma skos:exactMatch DOID:5957 bladder urachal squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0003714 bladder urachal squamous cell carcinoma skos:exactMatch MEDGEN:307289 semapv:UnspecifiedMatching MONDO:0003714 bladder urachal squamous cell carcinoma skos:exactMatch NCIT:C39845 Urachal Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0003714 bladder urachal squamous cell carcinoma skos:exactMatch UMLS:C1511206 semapv:UnspecifiedMatching MONDO:0003715 bladder urachal carcinoma skos:exactMatch DOID:5958 bladder urachal carcinoma semapv:UnspecifiedMatching MONDO:0003715 bladder urachal carcinoma skos:exactMatch MEDGEN:419015 semapv:UnspecifiedMatching MONDO:0003715 bladder urachal carcinoma skos:exactMatch NCIT:C39842 Urachal Carcinoma semapv:UnspecifiedMatching MONDO:0003715 bladder urachal carcinoma skos:exactMatch Orphanet:695020 Urachal carcinoma semapv:UnspecifiedMatching MONDO:0003715 bladder urachal carcinoma skos:exactMatch UMLS:C2931202 semapv:UnspecifiedMatching MONDO:0003715 bladder urachal carcinoma skos:exactMatch mesh:C536475 semapv:UnspecifiedMatching MONDO:0003716 renal pelvis papillary urothelial carcinoma skos:exactMatch DOID:5973 kidney pelvis papillary carcinoma semapv:UnspecifiedMatching MONDO:0003716 renal pelvis papillary urothelial carcinoma skos:exactMatch MEDGEN:237178 semapv:UnspecifiedMatching MONDO:0003716 renal pelvis papillary urothelial carcinoma skos:exactMatch NCIT:C6148 Renal Pelvis Papillary Urothelial Carcinoma semapv:UnspecifiedMatching MONDO:0003716 renal pelvis papillary urothelial carcinoma skos:exactMatch UMLS:C1377909 semapv:UnspecifiedMatching MONDO:0003717 renal pelvis papillary tumor skos:exactMatch DOID:5975 renal pelvis papillary tumor semapv:UnspecifiedMatching MONDO:0003717 renal pelvis papillary tumor skos:exactMatch MEDGEN:163120 semapv:UnspecifiedMatching MONDO:0003717 renal pelvis papillary tumor skos:exactMatch NCIT:C8603 Renal Pelvis Papillary Urothelial Neoplasm semapv:UnspecifiedMatching MONDO:0003717 renal pelvis papillary tumor skos:exactMatch UMLS:C0853688 semapv:UnspecifiedMatching MONDO:0003718 occlusion precerebral artery skos:exactMatch DOID:5976 occlusion precerebral artery semapv:UnspecifiedMatching MONDO:0003718 occlusion precerebral artery skos:exactMatch EFO:0009677 semapv:UnspecifiedMatching MONDO:0003718 occlusion precerebral artery skos:exactMatch MEDGEN:539069 semapv:UnspecifiedMatching MONDO:0003718 occlusion precerebral artery skos:exactMatch SCTID:28790007 semapv:UnspecifiedMatching MONDO:0003718 occlusion precerebral artery skos:exactMatch UMLS:C0265090 semapv:UnspecifiedMatching MONDO:0003719 renal pelvis neoplasm skos:exactMatch DOID:5977 renal pelvis benign neoplasm semapv:UnspecifiedMatching MONDO:0003719 renal pelvis neoplasm skos:exactMatch MEDGEN:138049 semapv:UnspecifiedMatching MONDO:0003719 renal pelvis neoplasm skos:exactMatch NCIT:C8404 Renal Pelvis Neoplasm semapv:UnspecifiedMatching MONDO:0003719 renal pelvis neoplasm skos:exactMatch SCTID:126881002 semapv:UnspecifiedMatching MONDO:0003719 renal pelvis neoplasm skos:exactMatch UMLS:C0346260 semapv:UnspecifiedMatching MONDO:0003720 kidney fibrosarcoma skos:exactMatch DOID:5982 kidney fibrosarcoma semapv:UnspecifiedMatching MONDO:0003720 kidney fibrosarcoma skos:exactMatch MEDGEN:116050 semapv:UnspecifiedMatching MONDO:0003720 kidney fibrosarcoma skos:exactMatch NCIT:C7726 Kidney Fibrosarcoma semapv:UnspecifiedMatching MONDO:0003720 kidney fibrosarcoma skos:exactMatch UMLS:C0238208 semapv:UnspecifiedMatching MONDO:0003721 kidney osteogenic sarcoma skos:exactMatch DOID:5983 kidney osteogenic sarcoma semapv:UnspecifiedMatching MONDO:0003721 kidney osteogenic sarcoma skos:exactMatch MEDGEN:235547 semapv:UnspecifiedMatching MONDO:0003721 kidney osteogenic sarcoma skos:exactMatch NCIT:C6181 Kidney Extraskeletal Osteosarcoma semapv:UnspecifiedMatching MONDO:0003721 kidney osteogenic sarcoma skos:exactMatch UMLS:C1335747 semapv:UnspecifiedMatching MONDO:0003722 internal auditory canal meningioma skos:exactMatch DOID:5990 internal auditory canal meningioma semapv:UnspecifiedMatching MONDO:0003722 internal auditory canal meningioma skos:exactMatch MEDGEN:235221 semapv:UnspecifiedMatching MONDO:0003722 internal auditory canal meningioma skos:exactMatch NCIT:C5307 Internal Auditory Canal Meningioma semapv:UnspecifiedMatching MONDO:0003722 internal auditory canal meningioma skos:exactMatch UMLS:C1334227 semapv:UnspecifiedMatching MONDO:0003723 obsolete blunt duct adenosis of breast skos:exactMatch DOID:5996 obsolete blunt duct adenosis of breast semapv:UnspecifiedMatching MONDO:0003723 obsolete blunt duct adenosis of breast skos:exactMatch NCIT:C6941 Breast Blunt Duct Adenosis semapv:UnspecifiedMatching MONDO:0003724 non-proliferative fibrocystic change of the breast skos:exactMatch DOID:5997 non-proliferative fibrocystic change of the breast semapv:UnspecifiedMatching MONDO:0003724 non-proliferative fibrocystic change of the breast skos:exactMatch MEDGEN:231966 semapv:UnspecifiedMatching MONDO:0003724 non-proliferative fibrocystic change of the breast skos:exactMatch NCIT:C6943 Breast Fibrocystic Change, Non-Proliferative Type semapv:UnspecifiedMatching MONDO:0003724 non-proliferative fibrocystic change of the breast skos:exactMatch UMLS:C1332628 semapv:UnspecifiedMatching MONDO:0003725 breast adenosis skos:exactMatch DOID:5998 microglandular adenosis semapv:UnspecifiedMatching MONDO:0003725 breast adenosis skos:exactMatch EFO:0006891 semapv:UnspecifiedMatching MONDO:0003725 breast adenosis skos:exactMatch MEDGEN:39336 semapv:UnspecifiedMatching MONDO:0003725 breast adenosis skos:exactMatch NCIT:C3484 Breast Adenosis semapv:UnspecifiedMatching MONDO:0003725 breast adenosis skos:exactMatch UMLS:C0085750 semapv:UnspecifiedMatching MONDO:0003726 apocrine adenosis of breast skos:exactMatch DOID:5999 apocrine adenosis of breast semapv:UnspecifiedMatching MONDO:0003726 apocrine adenosis of breast skos:exactMatch MEDGEN:231072 semapv:UnspecifiedMatching MONDO:0003726 apocrine adenosis of breast skos:exactMatch NCIT:C5198 Breast Apocrine Adenosis semapv:UnspecifiedMatching MONDO:0003726 apocrine adenosis of breast skos:exactMatch UMLS:C1332314 semapv:UnspecifiedMatching MONDO:0003727 animal phobia skos:exactMatch DOID:600 animal phobia semapv:UnspecifiedMatching MONDO:0003727 animal phobia skos:exactMatch EFO:1001876 semapv:UnspecifiedMatching MONDO:0003727 animal phobia skos:exactMatch MEDGEN:65440 semapv:UnspecifiedMatching MONDO:0003727 animal phobia skos:exactMatch NCIT:C35273 Animal Phobia semapv:UnspecifiedMatching MONDO:0003727 animal phobia skos:exactMatch UMLS:C0233711 semapv:UnspecifiedMatching MONDO:0003728 breast fibrosarcoma skos:exactMatch DOID:6001 breast fibrosarcoma semapv:UnspecifiedMatching MONDO:0003728 breast fibrosarcoma skos:exactMatch MEDGEN:272385 semapv:UnspecifiedMatching MONDO:0003728 breast fibrosarcoma skos:exactMatch NCIT:C5185 Breast Fibrosarcoma semapv:UnspecifiedMatching MONDO:0003728 breast fibrosarcoma skos:exactMatch UMLS:C1332630 semapv:UnspecifiedMatching MONDO:0003729 aleukemic leukemia cutis skos:exactMatch DOID:6003 aleukemic leukemia cutis semapv:UnspecifiedMatching MONDO:0003729 aleukemic leukemia cutis skos:exactMatch MEDGEN:168394 semapv:UnspecifiedMatching MONDO:0003729 aleukemic leukemia cutis skos:exactMatch NCIT:C4983 Aleukemic Leukemia Cutis semapv:UnspecifiedMatching MONDO:0003729 aleukemic leukemia cutis skos:exactMatch UMLS:C0887846 semapv:UnspecifiedMatching MONDO:0003730 aleukemic leukemia skos:exactMatch DOID:12965 subleukemic leukemia semapv:UnspecifiedMatching MONDO:0003730 aleukemic leukemia skos:exactMatch DOID:6004 aleukemic leukemia semapv:UnspecifiedMatching MONDO:0003730 aleukemic leukemia skos:exactMatch MEDGEN:164094 semapv:UnspecifiedMatching MONDO:0003730 aleukemic leukemia skos:exactMatch NCIT:C4982 Aleukemic Leukemia semapv:UnspecifiedMatching MONDO:0003730 aleukemic leukemia skos:exactMatch SCTID:302856006 semapv:UnspecifiedMatching MONDO:0003730 aleukemic leukemia skos:exactMatch UMLS:C0877858 semapv:UnspecifiedMatching MONDO:0003731 adult central nervous system teratoma skos:exactMatch DOID:6015 adult central nervous system teratoma semapv:UnspecifiedMatching MONDO:0003731 adult central nervous system teratoma skos:exactMatch MEDGEN:234583 semapv:UnspecifiedMatching MONDO:0003731 adult central nervous system teratoma skos:exactMatch NCIT:C5794 Adult Central Nervous System Teratoma semapv:UnspecifiedMatching MONDO:0003731 adult central nervous system teratoma skos:exactMatch UMLS:C1370506 semapv:UnspecifiedMatching MONDO:0003732 adult central nervous system mature teratoma skos:exactMatch DOID:6016 adult central nervous system mature teratoma semapv:UnspecifiedMatching MONDO:0003732 adult central nervous system mature teratoma skos:exactMatch MEDGEN:231037 semapv:UnspecifiedMatching MONDO:0003732 adult central nervous system mature teratoma skos:exactMatch NCIT:C27400 Adult Central Nervous System Mature Teratoma semapv:UnspecifiedMatching MONDO:0003732 adult central nervous system mature teratoma skos:exactMatch UMLS:C1332194 semapv:UnspecifiedMatching MONDO:0003733 central nervous system mature teratoma skos:exactMatch DOID:6017 central nervous system mature teratoma semapv:UnspecifiedMatching MONDO:0003733 central nervous system mature teratoma skos:exactMatch MEDGEN:234103 semapv:UnspecifiedMatching MONDO:0003733 central nervous system mature teratoma skos:exactMatch NCIT:C7013 Central Nervous System Mature Teratoma semapv:UnspecifiedMatching MONDO:0003733 central nervous system mature teratoma skos:exactMatch UMLS:C1332886 semapv:UnspecifiedMatching MONDO:0003734 adult central nervous system immature teratoma skos:exactMatch DOID:6018 adult central nervous system immature teratoma semapv:UnspecifiedMatching MONDO:0003734 adult central nervous system immature teratoma skos:exactMatch MEDGEN:231036 semapv:UnspecifiedMatching MONDO:0003734 adult central nervous system immature teratoma skos:exactMatch NCIT:C27401 Adult Central Nervous System Immature Teratoma semapv:UnspecifiedMatching MONDO:0003734 adult central nervous system immature teratoma skos:exactMatch UMLS:C1332193 semapv:UnspecifiedMatching MONDO:0003735 central nervous system immature teratoma skos:exactMatch DOID:6019 central nervous system immature teratoma semapv:UnspecifiedMatching MONDO:0003735 central nervous system immature teratoma skos:exactMatch MEDGEN:272442 semapv:UnspecifiedMatching MONDO:0003735 central nervous system immature teratoma skos:exactMatch NCIT:C7014 Central Nervous System Immature Teratoma semapv:UnspecifiedMatching MONDO:0003735 central nervous system immature teratoma skos:exactMatch UMLS:C1332883 semapv:UnspecifiedMatching MONDO:0003736 cancerophobia skos:exactMatch DOID:602 cancerophobia semapv:UnspecifiedMatching MONDO:0003736 cancerophobia skos:exactMatch MEDGEN:115929 semapv:UnspecifiedMatching MONDO:0003736 cancerophobia skos:exactMatch NCIT:C35492 Cancerphobia semapv:UnspecifiedMatching MONDO:0003736 cancerophobia skos:exactMatch UMLS:C0233705 semapv:UnspecifiedMatching MONDO:0003737 malignant testicular Leydig cell tumor skos:exactMatch MEDGEN:271769 semapv:UnspecifiedMatching MONDO:0003737 malignant testicular Leydig cell tumor skos:exactMatch NCIT:C39942 Malignant Testicular Leydig Cell Tumor semapv:UnspecifiedMatching MONDO:0003737 malignant testicular Leydig cell tumor skos:exactMatch UMLS:C1515288 semapv:UnspecifiedMatching MONDO:0003738 selective IgE deficiency disease skos:exactMatch DOID:6024 selective IgE deficiency disease semapv:UnspecifiedMatching MONDO:0003738 selective IgE deficiency disease skos:exactMatch MEDGEN:96020 semapv:UnspecifiedMatching MONDO:0003738 selective IgE deficiency disease skos:exactMatch NCIT:C27143 Selective IgE Immunodeficiency semapv:UnspecifiedMatching MONDO:0003738 selective IgE deficiency disease skos:exactMatch SCTID:234540007 semapv:UnspecifiedMatching MONDO:0003738 selective IgE deficiency disease skos:exactMatch UMLS:C0398694 semapv:UnspecifiedMatching MONDO:0003739 selective immunoglobulin deficiency disease skos:exactMatch DOID:6025 selective immunoglobulin deficiency disease semapv:UnspecifiedMatching MONDO:0003739 selective immunoglobulin deficiency disease skos:exactMatch MEDGEN:235584 semapv:UnspecifiedMatching MONDO:0003739 selective immunoglobulin deficiency disease skos:exactMatch NCIT:C27870 Selective Immunoglobulin Isotype Deficiency semapv:UnspecifiedMatching MONDO:0003739 selective immunoglobulin deficiency disease skos:exactMatch UMLS:C1335942 semapv:UnspecifiedMatching MONDO:0003740 AIDS phobia skos:exactMatch DOID:603 AIDS phobia semapv:UnspecifiedMatching MONDO:0003740 AIDS phobia skos:exactMatch MEDGEN:167692 semapv:UnspecifiedMatching MONDO:0003740 AIDS phobia skos:exactMatch NCIT:C35614 AIDS Phobia semapv:UnspecifiedMatching MONDO:0003740 AIDS phobia skos:exactMatch UMLS:C0853870 semapv:UnspecifiedMatching MONDO:0003741 juvenile type testicular granulosa cell tumor skos:exactMatch DOID:6032 juvenile type testicular granulosa cell tumor semapv:UnspecifiedMatching MONDO:0003741 juvenile type testicular granulosa cell tumor skos:exactMatch MEDGEN:308257 semapv:UnspecifiedMatching MONDO:0003741 juvenile type testicular granulosa cell tumor skos:exactMatch NCIT:C39947 Juvenile Testicular Granulosa Cell Tumor semapv:UnspecifiedMatching MONDO:0003741 juvenile type testicular granulosa cell tumor skos:exactMatch UMLS:C1515285 semapv:UnspecifiedMatching MONDO:0003742 heart fibrosarcoma skos:exactMatch DOID:6033 heart fibrosarcoma semapv:UnspecifiedMatching MONDO:0003742 heart fibrosarcoma skos:exactMatch MEDGEN:232022 semapv:UnspecifiedMatching MONDO:0003742 heart fibrosarcoma skos:exactMatch NCIT:C5361 Cardiac Fibrosarcoma semapv:UnspecifiedMatching MONDO:0003742 heart fibrosarcoma skos:exactMatch UMLS:C1332844 semapv:UnspecifiedMatching MONDO:0003743 heart malignant hemangiopericytoma skos:exactMatch DOID:6034 heart malignant hemangiopericytoma semapv:UnspecifiedMatching MONDO:0003743 heart malignant hemangiopericytoma skos:exactMatch MEDGEN:233144 semapv:UnspecifiedMatching MONDO:0003743 heart malignant hemangiopericytoma skos:exactMatch NCIT:C5365 Malignant Cardiac Hemangiopericytoma semapv:UnspecifiedMatching MONDO:0003743 heart malignant hemangiopericytoma skos:exactMatch UMLS:C1334567 semapv:UnspecifiedMatching MONDO:0003744 spindle cell intraocular melanoma skos:exactMatch DOID:6037 spindle cell intraocular melanoma semapv:UnspecifiedMatching MONDO:0003744 spindle cell intraocular melanoma skos:exactMatch MEDGEN:76015 semapv:UnspecifiedMatching MONDO:0003744 spindle cell intraocular melanoma skos:exactMatch NCIT:C7986 Uveal Spindle Cell Melanoma semapv:UnspecifiedMatching MONDO:0003744 spindle cell intraocular melanoma skos:exactMatch UMLS:C0279687 semapv:UnspecifiedMatching MONDO:0003745 choroid spindle cell melanoma skos:exactMatch DOID:6041 choroid spindle cell melanoma semapv:UnspecifiedMatching MONDO:0003745 choroid spindle cell melanoma skos:exactMatch MEDGEN:272477 semapv:UnspecifiedMatching MONDO:0003745 choroid spindle cell melanoma skos:exactMatch NCIT:C6099 Choroid Spindle Cell Melanoma semapv:UnspecifiedMatching MONDO:0003745 choroid spindle cell melanoma skos:exactMatch UMLS:C1333027 semapv:UnspecifiedMatching MONDO:0003746 ciliary body spindle cell melanoma skos:exactMatch DOID:6043 ciliary body spindle cell melanoma semapv:UnspecifiedMatching MONDO:0003746 ciliary body spindle cell melanoma skos:exactMatch MEDGEN:232367 semapv:UnspecifiedMatching MONDO:0003746 ciliary body spindle cell melanoma skos:exactMatch NCIT:C6117 Ciliary Body Spindle Cell Melanoma semapv:UnspecifiedMatching MONDO:0003746 ciliary body spindle cell melanoma skos:exactMatch UMLS:C1333052 semapv:UnspecifiedMatching MONDO:0003747 telangiectatic glomangioma skos:exactMatch DOID:6048 telangiectatic glomangioma semapv:UnspecifiedMatching MONDO:0003747 telangiectatic glomangioma skos:exactMatch MEDGEN:236998 semapv:UnspecifiedMatching MONDO:0003747 telangiectatic glomangioma skos:exactMatch NCIT:C5345 Plaque-Like Telangiectatic Glomuvenous Malformation semapv:UnspecifiedMatching MONDO:0003747 telangiectatic glomangioma skos:exactMatch UMLS:C1336699 semapv:UnspecifiedMatching MONDO:0003748 flying phobia skos:exactMatch DOID:605 flying phobia semapv:UnspecifiedMatching MONDO:0003748 flying phobia skos:exactMatch EFO:1001889 semapv:UnspecifiedMatching MONDO:0003748 flying phobia skos:exactMatch MEDGEN:83369 semapv:UnspecifiedMatching MONDO:0003748 flying phobia skos:exactMatch NCIT:C35413 Flying Phobia semapv:UnspecifiedMatching MONDO:0003748 flying phobia skos:exactMatch UMLS:C0344318 semapv:UnspecifiedMatching MONDO:0003749 esophageal disorder skos:exactMatch DOID:6050 esophageal disease semapv:UnspecifiedMatching MONDO:0003749 esophageal disorder skos:exactMatch EFO:0009544 semapv:UnspecifiedMatching MONDO:0003749 esophageal disorder skos:exactMatch MEDGEN:8693 semapv:UnspecifiedMatching MONDO:0003749 esophageal disorder skos:exactMatch NCIT:C3027 Esophageal Disorder semapv:UnspecifiedMatching MONDO:0003749 esophageal disorder skos:exactMatch SCTID:30811009 semapv:UnspecifiedMatching MONDO:0003749 esophageal disorder skos:exactMatch SCTID:37657006 semapv:UnspecifiedMatching MONDO:0003749 esophageal disorder skos:exactMatch UMLS:C0014852 semapv:UnspecifiedMatching MONDO:0003749 esophageal disorder skos:exactMatch icd11.foundation:1594312948 Diseases of oesophagus semapv:UnspecifiedMatching MONDO:0003749 esophageal disorder skos:exactMatch mesh:D004935 semapv:UnspecifiedMatching MONDO:0003750 childhood central nervous system germ cell tumor skos:exactMatch DOID:6052 central nervous system childhood germ cell tumor semapv:UnspecifiedMatching MONDO:0003750 childhood central nervous system germ cell tumor skos:exactMatch MEDGEN:124505 semapv:UnspecifiedMatching MONDO:0003750 childhood central nervous system germ cell tumor skos:exactMatch NCIT:C6205 Childhood Central Nervous System Germ Cell Tumor semapv:UnspecifiedMatching MONDO:0003750 childhood central nervous system germ cell tumor skos:exactMatch UMLS:C0278754 semapv:UnspecifiedMatching MONDO:0003751 childhood germ cell tumor skos:exactMatch DOID:6053 childhood germ cell cancer semapv:UnspecifiedMatching MONDO:0003751 childhood germ cell tumor skos:exactMatch MEDGEN:75907 semapv:UnspecifiedMatching MONDO:0003751 childhood germ cell tumor skos:exactMatch NCIT:C7928 Childhood Germ Cell Tumor semapv:UnspecifiedMatching MONDO:0003751 childhood germ cell tumor skos:exactMatch UMLS:C0279014 semapv:UnspecifiedMatching MONDO:0003752 frontal sinus Schneiderian papilloma skos:exactMatch DOID:6054 frontal sinus Schneiderian papilloma semapv:UnspecifiedMatching MONDO:0003752 frontal sinus Schneiderian papilloma skos:exactMatch MEDGEN:234273 semapv:UnspecifiedMatching MONDO:0003752 frontal sinus Schneiderian papilloma skos:exactMatch NCIT:C6837 Frontal Sinus Papilloma semapv:UnspecifiedMatching MONDO:0003752 frontal sinus Schneiderian papilloma skos:exactMatch UMLS:C1333645 semapv:UnspecifiedMatching MONDO:0003753 nasal vestibule squamous papilloma skos:exactMatch DOID:6059 nasal vestibule papilloma semapv:UnspecifiedMatching MONDO:0003753 nasal vestibule squamous papilloma skos:exactMatch MEDGEN:90945 semapv:UnspecifiedMatching MONDO:0003753 nasal vestibule squamous papilloma skos:exactMatch NCIT:C4369 Nasal Vestibule Squamous Papilloma semapv:UnspecifiedMatching MONDO:0003753 nasal vestibule squamous papilloma skos:exactMatch SCTID:232364006 semapv:UnspecifiedMatching MONDO:0003753 nasal vestibule squamous papilloma skos:exactMatch UMLS:C0339826 semapv:UnspecifiedMatching MONDO:0003754 Brown-Sequard syndrome skos:exactMatch DOID:606 Brown-Sequard syndrome semapv:UnspecifiedMatching MONDO:0003754 Brown-Sequard syndrome skos:exactMatch EFO:1001279 semapv:UnspecifiedMatching MONDO:0003754 Brown-Sequard syndrome skos:exactMatch ICD10CM:G83.81 Brown-Séquard syndrome semapv:UnspecifiedMatching MONDO:0003754 Brown-Sequard syndrome skos:exactMatch MEDGEN:69225 semapv:UnspecifiedMatching MONDO:0003754 Brown-Sequard syndrome skos:exactMatch NCIT:C84601 Brown-Sequard Syndrome semapv:UnspecifiedMatching MONDO:0003754 Brown-Sequard syndrome skos:exactMatch SCTID:27982003 semapv:UnspecifiedMatching MONDO:0003754 Brown-Sequard syndrome skos:exactMatch UMLS:C0242644 semapv:UnspecifiedMatching MONDO:0003754 Brown-Sequard syndrome skos:exactMatch mesh:D018437 semapv:UnspecifiedMatching MONDO:0003755 urinary tract non-invasive transitional cell neoplasm skos:exactMatch DOID:6065 urinary tract non-invasive transitional cell neoplasm semapv:UnspecifiedMatching MONDO:0003755 urinary tract non-invasive transitional cell neoplasm skos:exactMatch MEDGEN:273592 semapv:UnspecifiedMatching MONDO:0003755 urinary tract non-invasive transitional cell neoplasm skos:exactMatch NCIT:C39854 Non-Invasive Urothelial Neoplasm semapv:UnspecifiedMatching MONDO:0003755 urinary tract non-invasive transitional cell neoplasm skos:exactMatch UMLS:C1518361 semapv:UnspecifiedMatching MONDO:0003756 ovarian mucinous neoplasm skos:exactMatch DOID:6067 ovarian mucinous neoplasm semapv:UnspecifiedMatching MONDO:0003756 ovarian mucinous neoplasm skos:exactMatch MEDGEN:235419 semapv:UnspecifiedMatching MONDO:0003756 ovarian mucinous neoplasm skos:exactMatch NCIT:C5242 Ovarian Mucinous Tumor semapv:UnspecifiedMatching MONDO:0003756 ovarian mucinous neoplasm skos:exactMatch UMLS:C1335168 semapv:UnspecifiedMatching MONDO:0003757 paraplegia skos:exactMatch DOID:607 paraplegia semapv:UnspecifiedMatching MONDO:0003757 paraplegia skos:exactMatch EFO:0009679 semapv:UnspecifiedMatching MONDO:0003757 paraplegia skos:exactMatch ICD10CM:G82.2 Paraplegia semapv:UnspecifiedMatching MONDO:0003757 paraplegia skos:exactMatch MEDGEN:45323 semapv:UnspecifiedMatching MONDO:0003757 paraplegia skos:exactMatch NCIT:C50687 Paraplegia semapv:UnspecifiedMatching MONDO:0003757 paraplegia skos:exactMatch SCTID:60389000 semapv:UnspecifiedMatching MONDO:0003757 paraplegia skos:exactMatch UMLS:C0030486 semapv:UnspecifiedMatching MONDO:0003757 paraplegia skos:exactMatch icd11.foundation:1212533558 Paraplegia semapv:UnspecifiedMatching MONDO:0003757 paraplegia skos:exactMatch mesh:D010264 semapv:UnspecifiedMatching MONDO:0003758 childhood testicular germ cell tumor skos:exactMatch DOID:6082 childhood testicular germ cell tumor semapv:UnspecifiedMatching MONDO:0003758 childhood testicular germ cell tumor skos:exactMatch MEDGEN:208758 semapv:UnspecifiedMatching MONDO:0003758 childhood testicular germ cell tumor skos:exactMatch NCIT:C6552 Childhood Testicular Germ Cell Tumor semapv:UnspecifiedMatching MONDO:0003758 childhood testicular germ cell tumor skos:exactMatch UMLS:C0796663 semapv:UnspecifiedMatching MONDO:0003759 childhood ovarian yolk sac tumor skos:exactMatch DOID:6083 childhood ovarian endodermal sinus tumor semapv:UnspecifiedMatching MONDO:0003759 childhood ovarian yolk sac tumor skos:exactMatch MEDGEN:234136 semapv:UnspecifiedMatching MONDO:0003759 childhood ovarian yolk sac tumor skos:exactMatch NCIT:C6551 Childhood Ovarian Yolk Sac Tumor semapv:UnspecifiedMatching MONDO:0003759 childhood ovarian yolk sac tumor skos:exactMatch UMLS:C1332993 semapv:UnspecifiedMatching MONDO:0003760 pediatric ovarian germ cell tumor skos:exactMatch DOID:6084 childhood ovarian germ cell tumor semapv:UnspecifiedMatching MONDO:0003760 pediatric ovarian germ cell tumor skos:exactMatch MEDGEN:162990 semapv:UnspecifiedMatching MONDO:0003760 pediatric ovarian germ cell tumor skos:exactMatch NCIT:C8588 Childhood Ovarian Germ Cell Tumor semapv:UnspecifiedMatching MONDO:0003760 pediatric ovarian germ cell tumor skos:exactMatch UMLS:C0796664 semapv:UnspecifiedMatching MONDO:0003761 leptomeningeal melanoma skos:exactMatch DOID:6085 meningeal melanoma semapv:UnspecifiedMatching MONDO:0003761 leptomeningeal melanoma skos:exactMatch NCIT:C5317 Meningeal Melanoma semapv:UnspecifiedMatching MONDO:0003761 leptomeningeal melanoma skos:exactMatch SCTID:277530005 semapv:UnspecifiedMatching MONDO:0003762 malignant leptomeningeal tumor skos:exactMatch DOID:6086 malignant leptomeningeal neoplasm semapv:UnspecifiedMatching MONDO:0003762 malignant leptomeningeal tumor skos:exactMatch MEDGEN:233153 semapv:UnspecifiedMatching MONDO:0003762 malignant leptomeningeal tumor skos:exactMatch NCIT:C8506 Malignant Leptomeningeal Neoplasm semapv:UnspecifiedMatching MONDO:0003762 malignant leptomeningeal tumor skos:exactMatch UMLS:C1334596 semapv:UnspecifiedMatching MONDO:0003763 acute stress disorder skos:exactMatch DOID:6088 acute stress disorder semapv:UnspecifiedMatching MONDO:0003763 acute stress disorder skos:exactMatch EFO:0005223 semapv:UnspecifiedMatching MONDO:0003763 acute stress disorder skos:exactMatch ICD10CM:F43.0 Acute stress reaction semapv:UnspecifiedMatching MONDO:0003763 acute stress disorder skos:exactMatch MEDGEN:116022 semapv:UnspecifiedMatching MONDO:0003763 acute stress disorder skos:exactMatch NCIT:C92621 Acute Stress Disorder semapv:UnspecifiedMatching MONDO:0003763 acute stress disorder skos:exactMatch SCTID:67195008 semapv:UnspecifiedMatching MONDO:0003763 acute stress disorder skos:exactMatch UMLS:C0236816 semapv:UnspecifiedMatching MONDO:0003763 acute stress disorder skos:exactMatch mesh:D000068099 semapv:UnspecifiedMatching MONDO:0003764 pediatric leptomeningeal melanoma skos:exactMatch DOID:6089 childhood leptomeningeal melanoma semapv:UnspecifiedMatching MONDO:0003764 pediatric leptomeningeal melanoma skos:exactMatch MEDGEN:232061 semapv:UnspecifiedMatching MONDO:0003764 pediatric leptomeningeal melanoma skos:exactMatch NCIT:C5318 Childhood Meningeal Melanoma semapv:UnspecifiedMatching MONDO:0003764 pediatric leptomeningeal melanoma skos:exactMatch UMLS:C1332976 semapv:UnspecifiedMatching MONDO:0003765 adult leptomeningeal melanoma skos:exactMatch DOID:6090 adult leptomeningeal melanoma semapv:UnspecifiedMatching MONDO:0003765 adult leptomeningeal melanoma skos:exactMatch MEDGEN:231042 semapv:UnspecifiedMatching MONDO:0003765 adult leptomeningeal melanoma skos:exactMatch NCIT:C5319 Adult Meningeal Melanoma semapv:UnspecifiedMatching MONDO:0003765 adult leptomeningeal melanoma skos:exactMatch UMLS:C1332204 semapv:UnspecifiedMatching MONDO:0003766 thalamic cancer skos:exactMatch DOID:6098 thalamic neoplasm semapv:UnspecifiedMatching MONDO:0003766 thalamic cancer skos:exactMatch MEDGEN:83429 semapv:UnspecifiedMatching MONDO:0003766 thalamic cancer skos:exactMatch NCIT:C4576 Malignant Thalamic Neoplasm semapv:UnspecifiedMatching MONDO:0003766 thalamic cancer skos:exactMatch SCTID:188287005 semapv:UnspecifiedMatching MONDO:0003766 thalamic cancer skos:exactMatch UMLS:C0346902 semapv:UnspecifiedMatching MONDO:0003766 thalamic cancer skos:exactMatch icd11.foundation:610018988 Thalamic cancer semapv:UnspecifiedMatching MONDO:0003767 mitral valve disorder skos:exactMatch DOID:61 mitral valve disease semapv:UnspecifiedMatching MONDO:0003767 mitral valve disorder skos:exactMatch EFO:0009557 semapv:UnspecifiedMatching MONDO:0003767 mitral valve disorder skos:exactMatch MEDGEN:7669 semapv:UnspecifiedMatching MONDO:0003767 mitral valve disorder skos:exactMatch NCIT:C78446 Mitral Valve Disorder semapv:UnspecifiedMatching MONDO:0003767 mitral valve disorder skos:exactMatch SCTID:11851006 semapv:UnspecifiedMatching MONDO:0003767 mitral valve disorder skos:exactMatch UMLS:C0026265 semapv:UnspecifiedMatching MONDO:0003767 mitral valve disorder skos:exactMatch icd11.foundation:1997348476 Mitral valve disease semapv:UnspecifiedMatching MONDO:0003768 signet ring cell variant cervical mucinous adenocarcinoma skos:exactMatch DOID:6101 signet ring cell variant cervical mucinous adenocarcinoma semapv:UnspecifiedMatching MONDO:0003768 signet ring cell variant cervical mucinous adenocarcinoma skos:exactMatch MEDGEN:273126 semapv:UnspecifiedMatching MONDO:0003768 signet ring cell variant cervical mucinous adenocarcinoma skos:exactMatch NCIT:C40205 Cervical Mucinous Adenocarcinoma, Signet Ring Cell-Type semapv:UnspecifiedMatching MONDO:0003768 signet ring cell variant cervical mucinous adenocarcinoma skos:exactMatch UMLS:C1516424 semapv:UnspecifiedMatching MONDO:0003769 herpetic gastritis skos:exactMatch DOID:6102 herpetic gastritis semapv:UnspecifiedMatching MONDO:0003769 herpetic gastritis skos:exactMatch MEDGEN:272714 semapv:UnspecifiedMatching MONDO:0003769 herpetic gastritis skos:exactMatch NCIT:C27341 Herpetic Gastritis semapv:UnspecifiedMatching MONDO:0003769 herpetic gastritis skos:exactMatch UMLS:C1333996 semapv:UnspecifiedMatching MONDO:0003770 thoracic spinal canal and spinal cord meningioma skos:exactMatch DOID:6103 thoracic spinal canal and spinal cord meningioma semapv:UnspecifiedMatching MONDO:0003770 thoracic spinal canal and spinal cord meningioma skos:exactMatch MEDGEN:234424 semapv:UnspecifiedMatching MONDO:0003770 thoracic spinal canal and spinal cord meningioma skos:exactMatch NCIT:C5297 Thoracic Spinal Cord Meningioma semapv:UnspecifiedMatching MONDO:0003770 thoracic spinal canal and spinal cord meningioma skos:exactMatch UMLS:C1336738 semapv:UnspecifiedMatching MONDO:0003771 jugular foramen meningioma skos:exactMatch DOID:6110 jugular foramen meningioma semapv:UnspecifiedMatching MONDO:0003771 jugular foramen meningioma skos:exactMatch MEDGEN:233586 semapv:UnspecifiedMatching MONDO:0003771 jugular foramen meningioma skos:exactMatch NCIT:C5293 Jugular Foramen Meningioma semapv:UnspecifiedMatching MONDO:0003771 jugular foramen meningioma skos:exactMatch UMLS:C1334298 semapv:UnspecifiedMatching MONDO:0003772 cerebral meningioma skos:exactMatch DOID:6112 cerebral meningioma semapv:UnspecifiedMatching MONDO:0003772 cerebral meningioma skos:exactMatch MEDGEN:154239 semapv:UnspecifiedMatching MONDO:0003772 cerebral meningioma skos:exactMatch NCIT:C4807 Cerebral Meningioma semapv:UnspecifiedMatching MONDO:0003772 cerebral meningioma skos:exactMatch SCTID:189164002 semapv:UnspecifiedMatching MONDO:0003772 cerebral meningioma skos:exactMatch UMLS:C0542564 semapv:UnspecifiedMatching MONDO:0003773 intracerebral cystic meningioma skos:exactMatch DOID:6113 intracerebral cystic meningioma semapv:UnspecifiedMatching MONDO:0003773 intracerebral cystic meningioma skos:exactMatch MEDGEN:272767 semapv:UnspecifiedMatching MONDO:0003773 intracerebral cystic meningioma skos:exactMatch NCIT:C5269 Intracerebral Cystic Meningioma semapv:UnspecifiedMatching MONDO:0003773 intracerebral cystic meningioma skos:exactMatch UMLS:C1334236 semapv:UnspecifiedMatching MONDO:0003774 cerebral convexity meningioma skos:exactMatch DOID:6114 cerebral convexity meningioma semapv:UnspecifiedMatching MONDO:0003774 cerebral convexity meningioma skos:exactMatch MEDGEN:155844 semapv:UnspecifiedMatching MONDO:0003774 cerebral convexity meningioma skos:exactMatch NCIT:C4959 Cerebral Convexity Meningioma semapv:UnspecifiedMatching MONDO:0003774 cerebral convexity meningioma skos:exactMatch UMLS:C0751303 semapv:UnspecifiedMatching MONDO:0003775 lateral ventricle meningioma skos:exactMatch DOID:6115 lateral ventricle meningioma semapv:UnspecifiedMatching MONDO:0003775 lateral ventricle meningioma skos:exactMatch MEDGEN:232693 semapv:UnspecifiedMatching MONDO:0003775 lateral ventricle meningioma skos:exactMatch NCIT:C5302 Lateral Ventricle Meningioma semapv:UnspecifiedMatching MONDO:0003775 lateral ventricle meningioma skos:exactMatch UMLS:C1334380 semapv:UnspecifiedMatching MONDO:0003776 renal pelvis inverted papilloma skos:exactMatch DOID:6118 renal pelvis inverted papilloma semapv:UnspecifiedMatching MONDO:0003776 renal pelvis inverted papilloma skos:exactMatch MEDGEN:277591 semapv:UnspecifiedMatching MONDO:0003776 renal pelvis inverted papilloma skos:exactMatch NCIT:C6187 Renal Pelvis Inverted Papilloma semapv:UnspecifiedMatching MONDO:0003776 renal pelvis inverted papilloma skos:exactMatch UMLS:C1335751 semapv:UnspecifiedMatching MONDO:0003777 renal pelvis urothelial papilloma skos:exactMatch DOID:6119 renal pelvis urothelial papilloma semapv:UnspecifiedMatching MONDO:0003777 renal pelvis urothelial papilloma skos:exactMatch MEDGEN:271479 semapv:UnspecifiedMatching MONDO:0003777 renal pelvis urothelial papilloma skos:exactMatch NCIT:C4528 Renal Pelvis Urothelial Papilloma semapv:UnspecifiedMatching MONDO:0003777 renal pelvis urothelial papilloma skos:exactMatch UMLS:C1514844 semapv:UnspecifiedMatching MONDO:0003778 inborn error of immunity skos:exactMatch DOID:612 primary immunodeficiency disease semapv:UnspecifiedMatching MONDO:0003778 inborn error of immunity skos:exactMatch MEDGEN:585013 semapv:UnspecifiedMatching MONDO:0003778 inborn error of immunity skos:exactMatch Orphanet:101997 Primary immunodeficiency semapv:UnspecifiedMatching MONDO:0003778 inborn error of immunity skos:exactMatch SCTID:58606001 semapv:UnspecifiedMatching MONDO:0003778 inborn error of immunity skos:exactMatch UMLS:C0398686 semapv:UnspecifiedMatching MONDO:0003778 inborn error of immunity skos:exactMatch mesh:D007153 semapv:UnspecifiedMatching MONDO:0003780 T-cell immunodeficiency skos:exactMatch MEDGEN:226894 semapv:UnspecifiedMatching MONDO:0003780 T-cell immunodeficiency skos:exactMatch NCIT:C27145 T-Cell Immunodeficiency semapv:UnspecifiedMatching MONDO:0003780 T-cell immunodeficiency skos:exactMatch SCTID:402792003 semapv:UnspecifiedMatching MONDO:0003780 T-cell immunodeficiency skos:exactMatch UMLS:C1274233 semapv:UnspecifiedMatching MONDO:0003781 bronchitis skos:exactMatch DOID:6132 bronchitis semapv:UnspecifiedMatching MONDO:0003781 bronchitis skos:exactMatch EFO:0009661 semapv:UnspecifiedMatching MONDO:0003781 bronchitis skos:exactMatch MEDGEN:2736 semapv:UnspecifiedMatching MONDO:0003781 bronchitis skos:exactMatch NCIT:C2911 Bronchitis semapv:UnspecifiedMatching MONDO:0003781 bronchitis skos:exactMatch SCTID:32398004 semapv:UnspecifiedMatching MONDO:0003781 bronchitis skos:exactMatch UMLS:C0006277 semapv:UnspecifiedMatching MONDO:0003781 bronchitis skos:exactMatch icd11.foundation:11753425 Bronchitis semapv:UnspecifiedMatching MONDO:0003781 bronchitis skos:exactMatch mesh:D001991 semapv:UnspecifiedMatching MONDO:0003782 uterine corpus epithelioid leiomyosarcoma skos:exactMatch DOID:6139 uterine corpus epithelioid leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003782 uterine corpus epithelioid leiomyosarcoma skos:exactMatch MEDGEN:274363 semapv:UnspecifiedMatching MONDO:0003782 uterine corpus epithelioid leiomyosarcoma skos:exactMatch NCIT:C40174 Uterine Corpus Epithelioid Leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003782 uterine corpus epithelioid leiomyosarcoma skos:exactMatch UMLS:C1519851 semapv:UnspecifiedMatching MONDO:0003783 lymphopenia skos:exactMatch DOID:614 lymphopenia semapv:UnspecifiedMatching MONDO:0003783 lymphopenia skos:exactMatch ICD10CM:D72.810 Lymphocytopenia semapv:UnspecifiedMatching MONDO:0003783 lymphopenia skos:exactMatch MEDGEN:7418 semapv:UnspecifiedMatching MONDO:0003783 lymphopenia skos:exactMatch SCTID:48813009 semapv:UnspecifiedMatching MONDO:0003783 lymphopenia skos:exactMatch UMLS:C0024312 semapv:UnspecifiedMatching MONDO:0003783 lymphopenia skos:exactMatch icd11.foundation:298296736 Lymphopenia semapv:UnspecifiedMatching MONDO:0003783 lymphopenia skos:exactMatch mesh:D008231 semapv:UnspecifiedMatching MONDO:0003784 nasal cavity carcinoma in situ skos:exactMatch DOID:6148 nasal cavity carcinoma in situ semapv:UnspecifiedMatching MONDO:0003784 nasal cavity carcinoma in situ skos:exactMatch MEDGEN:138077 semapv:UnspecifiedMatching MONDO:0003784 nasal cavity carcinoma in situ skos:exactMatch NCIT:C4589 Stage 0 Nasal Cavity Cancer AJCC v6, v7, and v8 semapv:UnspecifiedMatching MONDO:0003784 nasal cavity carcinoma in situ skos:exactMatch SCTID:92663007 semapv:UnspecifiedMatching MONDO:0003784 nasal cavity carcinoma in situ skos:exactMatch UMLS:C0347095 semapv:UnspecifiedMatching MONDO:0003785 leukopenia skos:exactMatch DOID:615 leukopenia semapv:UnspecifiedMatching MONDO:0003785 leukopenia skos:exactMatch MEDGEN:6073 semapv:UnspecifiedMatching MONDO:0003785 leukopenia skos:exactMatch NCIT:C26816 Leukopenia semapv:UnspecifiedMatching MONDO:0003785 leukopenia skos:exactMatch SCTID:84828003 semapv:UnspecifiedMatching MONDO:0003785 leukopenia skos:exactMatch UMLS:C0023530 semapv:UnspecifiedMatching MONDO:0003785 leukopenia skos:exactMatch mesh:D007970 semapv:UnspecifiedMatching MONDO:0003786 childhood testicular choriocarcinoma skos:exactMatch DOID:6160 childhood choriocarcinoma of the testis semapv:UnspecifiedMatching MONDO:0003786 childhood testicular choriocarcinoma skos:exactMatch MEDGEN:272469 semapv:UnspecifiedMatching MONDO:0003786 childhood testicular choriocarcinoma skos:exactMatch NCIT:C6544 Childhood Testicular Choriocarcinoma semapv:UnspecifiedMatching MONDO:0003786 childhood testicular choriocarcinoma skos:exactMatch UMLS:C1333006 semapv:UnspecifiedMatching MONDO:0003787 childhood testicular mixed germ cell cancer skos:exactMatch DOID:6161 childhood testicular mixed germ cell tumor semapv:UnspecifiedMatching MONDO:0003787 childhood testicular mixed germ cell cancer skos:exactMatch MEDGEN:272471 semapv:UnspecifiedMatching MONDO:0003787 childhood testicular mixed germ cell cancer skos:exactMatch NCIT:C6542 Childhood Testicular Mixed Germ Cell Tumor semapv:UnspecifiedMatching MONDO:0003787 childhood testicular mixed germ cell cancer skos:exactMatch UMLS:C1333009 semapv:UnspecifiedMatching MONDO:0003788 childhood embryonal testis carcinoma skos:exactMatch DOID:6162 childhood embryonal testis carcinoma semapv:UnspecifiedMatching MONDO:0003788 childhood embryonal testis carcinoma skos:exactMatch MEDGEN:272470 semapv:UnspecifiedMatching MONDO:0003788 childhood embryonal testis carcinoma skos:exactMatch NCIT:C6545 Childhood Testicular Embryonal Carcinoma semapv:UnspecifiedMatching MONDO:0003788 childhood embryonal testis carcinoma skos:exactMatch UMLS:C1333007 semapv:UnspecifiedMatching MONDO:0003789 hereditary papillary renal cell carcinoma skos:exactMatch DOID:6163 familial renal papillary carcinoma semapv:UnspecifiedMatching MONDO:0003789 hereditary papillary renal cell carcinoma skos:exactMatch MEDGEN:163907 semapv:UnspecifiedMatching MONDO:0003789 hereditary papillary renal cell carcinoma skos:exactMatch NCIT:C9222 Hereditary Papillary Renal Cell Carcinoma semapv:UnspecifiedMatching MONDO:0003789 hereditary papillary renal cell carcinoma skos:exactMatch OMIM:605074 renal cell carcinoma, papillary, 1 semapv:UnspecifiedMatching MONDO:0003789 hereditary papillary renal cell carcinoma skos:exactMatch Orphanet:47044 Hereditary papillary renal cell carcinoma semapv:UnspecifiedMatching MONDO:0003789 hereditary papillary renal cell carcinoma skos:exactMatch SCTID:715561008 semapv:UnspecifiedMatching MONDO:0003789 hereditary papillary renal cell carcinoma skos:exactMatch UMLS:C0879257 semapv:UnspecifiedMatching MONDO:0003790 prostatic urethra urothelial carcinoma skos:exactMatch DOID:6166 prostatic urethra urothelial carcinoma semapv:UnspecifiedMatching MONDO:0003790 prostatic urethra urothelial carcinoma skos:exactMatch MEDGEN:271406 semapv:UnspecifiedMatching MONDO:0003790 prostatic urethra urothelial carcinoma skos:exactMatch NCIT:C39900 Prostatic Urethra Urothelial Carcinoma semapv:UnspecifiedMatching MONDO:0003790 prostatic urethra urothelial carcinoma skos:exactMatch UMLS:C1514522 semapv:UnspecifiedMatching MONDO:0003791 prostatic urethral cancer skos:exactMatch DOID:6167 prostatic urethral cancer semapv:UnspecifiedMatching MONDO:0003791 prostatic urethral cancer skos:exactMatch MEDGEN:308065 semapv:UnspecifiedMatching MONDO:0003791 prostatic urethral cancer skos:exactMatch NCIT:C39870 Prostatic Urethral Malignant Neoplasm semapv:UnspecifiedMatching MONDO:0003791 prostatic urethral cancer skos:exactMatch UMLS:C1514523 semapv:UnspecifiedMatching MONDO:0003792 ovarian carcinosarcoma skos:exactMatch DOID:6170 ovarian carcinosarcoma semapv:UnspecifiedMatching MONDO:0003792 ovarian carcinosarcoma skos:exactMatch EFO:1000412 semapv:UnspecifiedMatching MONDO:0003792 ovarian carcinosarcoma skos:exactMatch MEDGEN:140705 semapv:UnspecifiedMatching MONDO:0003792 ovarian carcinosarcoma skos:exactMatch NCIT:C9192 Ovarian Carcinosarcoma semapv:UnspecifiedMatching MONDO:0003792 ovarian carcinosarcoma skos:exactMatch Orphanet:213512 Malignant mixed Müllerian tumor of the ovary semapv:UnspecifiedMatching MONDO:0003792 ovarian carcinosarcoma skos:exactMatch SCTID:702368000 semapv:UnspecifiedMatching MONDO:0003792 ovarian carcinosarcoma skos:exactMatch UMLS:C0392998 semapv:UnspecifiedMatching MONDO:0003795 ovarian small cell carcinoma skos:exactMatch DOID:6179 ovarian small cell carcinoma semapv:UnspecifiedMatching MONDO:0003795 ovarian small cell carcinoma skos:exactMatch EFO:1000431 semapv:UnspecifiedMatching MONDO:0003795 ovarian small cell carcinoma skos:exactMatch MEDGEN:389177 semapv:UnspecifiedMatching MONDO:0003795 ovarian small cell carcinoma skos:exactMatch NCIT:C27390 Ovarian Small Cell Carcinoma semapv:UnspecifiedMatching MONDO:0003795 ovarian small cell carcinoma skos:exactMatch Orphanet:370396 Small cell carcinoma of the ovary semapv:UnspecifiedMatching MONDO:0003795 ovarian small cell carcinoma skos:exactMatch UMLS:C2212006 semapv:UnspecifiedMatching MONDO:0003796 rectum Kaposi sarcoma skos:exactMatch DOID:6190 rectum Kaposi's sarcoma semapv:UnspecifiedMatching MONDO:0003796 rectum Kaposi sarcoma skos:exactMatch MEDGEN:277575 semapv:UnspecifiedMatching MONDO:0003796 rectum Kaposi sarcoma skos:exactMatch NCIT:C5550 Rectal Kaposi Sarcoma semapv:UnspecifiedMatching MONDO:0003796 rectum Kaposi sarcoma skos:exactMatch UMLS:C1335681 semapv:UnspecifiedMatching MONDO:0003799 conjunctivitis skos:exactMatch DOID:6195 conjunctivitis semapv:UnspecifiedMatching MONDO:0003799 conjunctivitis skos:exactMatch EFO:0009450 semapv:UnspecifiedMatching MONDO:0003799 conjunctivitis skos:exactMatch ICD10CM:H10 Conjunctivitis semapv:UnspecifiedMatching MONDO:0003799 conjunctivitis skos:exactMatch ICD10WHO:H10 Conjunctivitis semapv:UnspecifiedMatching MONDO:0003799 conjunctivitis skos:exactMatch MEDGEN:1093 semapv:UnspecifiedMatching MONDO:0003799 conjunctivitis skos:exactMatch NCIT:C34504 Conjunctivitis semapv:UnspecifiedMatching MONDO:0003799 conjunctivitis skos:exactMatch SCTID:9826008 semapv:UnspecifiedMatching MONDO:0003799 conjunctivitis skos:exactMatch UMLS:C0009763 semapv:UnspecifiedMatching MONDO:0003799 conjunctivitis skos:exactMatch icd11.foundation:831696556 Conjunctivitis semapv:UnspecifiedMatching MONDO:0003799 conjunctivitis skos:exactMatch mesh:D003231 semapv:UnspecifiedMatching MONDO:0003800 conventional malignant hemangiopericytoma skos:exactMatch DOID:6197 conventional malignant hemangiopericytoma semapv:UnspecifiedMatching MONDO:0003800 conventional malignant hemangiopericytoma skos:exactMatch MEDGEN:232395 semapv:UnspecifiedMatching MONDO:0003800 conventional malignant hemangiopericytoma skos:exactMatch NCIT:C9425 Conventional Malignant Hemangiopericytoma semapv:UnspecifiedMatching MONDO:0003800 conventional malignant hemangiopericytoma skos:exactMatch UMLS:C1333158 semapv:UnspecifiedMatching MONDO:0003801 corneal intraepithelial neoplasm skos:exactMatch DOID:6198 corneal intraepithelial neoplasm semapv:UnspecifiedMatching MONDO:0003801 corneal intraepithelial neoplasm skos:exactMatch MEDGEN:232396 semapv:UnspecifiedMatching MONDO:0003801 corneal intraepithelial neoplasm skos:exactMatch NCIT:C6093 Corneal Squamous Intraepithelial Neoplasia semapv:UnspecifiedMatching MONDO:0003801 corneal intraepithelial neoplasm skos:exactMatch SCTID:420835009 semapv:UnspecifiedMatching MONDO:0003801 corneal intraepithelial neoplasm skos:exactMatch UMLS:C1333159 semapv:UnspecifiedMatching MONDO:0003802 cornea cancer skos:exactMatch DOID:6199 cornea cancer semapv:UnspecifiedMatching MONDO:0003802 cornea cancer skos:exactMatch ICD10CM:C69.1 Malignant neoplasm of cornea semapv:UnspecifiedMatching MONDO:0003802 cornea cancer skos:exactMatch MEDGEN:102282 semapv:UnspecifiedMatching MONDO:0003802 cornea cancer skos:exactMatch NCIT:C3565 Malignant Corneal Neoplasm semapv:UnspecifiedMatching MONDO:0003802 cornea cancer skos:exactMatch SCTID:363464006 semapv:UnspecifiedMatching MONDO:0003802 cornea cancer skos:exactMatch UMLS:C0153629 semapv:UnspecifiedMatching MONDO:0003802 cornea cancer skos:exactMatch icd11.foundation:477636850 Malignant neoplasm of cornea semapv:UnspecifiedMatching MONDO:0003803 aortic valve disorder skos:exactMatch DOID:62 aortic valve disease semapv:UnspecifiedMatching MONDO:0003803 aortic valve disorder skos:exactMatch EFO:0009531 semapv:UnspecifiedMatching MONDO:0003803 aortic valve disorder skos:exactMatch MEDGEN:226776 semapv:UnspecifiedMatching MONDO:0003803 aortic valve disorder skos:exactMatch NCIT:C78650 Aortic Valve Disorder semapv:UnspecifiedMatching MONDO:0003803 aortic valve disorder skos:exactMatch UMLS:C1260873 semapv:UnspecifiedMatching MONDO:0003803 aortic valve disorder skos:exactMatch icd11.foundation:1609206873 Aortic valve disease semapv:UnspecifiedMatching MONDO:0003804 obsolete blood protein disease skos:exactMatch DOID:620 blood protein disease semapv:UnspecifiedMatching MONDO:0003804 obsolete blood protein disease skos:exactMatch mesh:D001796 semapv:UnspecifiedMatching MONDO:0003805 malignant pericardial mesothelioma skos:exactMatch DOID:6201 pericardial mesothelioma semapv:UnspecifiedMatching MONDO:0003805 malignant pericardial mesothelioma skos:exactMatch MEDGEN:233322 semapv:UnspecifiedMatching MONDO:0003805 malignant pericardial mesothelioma skos:exactMatch NCIT:C7631 Pericardial Malignant Mesothelioma semapv:UnspecifiedMatching MONDO:0003805 malignant pericardial mesothelioma skos:exactMatch Orphanet:685004 Primary pericardial mesothelioma semapv:UnspecifiedMatching MONDO:0003805 malignant pericardial mesothelioma skos:exactMatch SCTID:109383000 semapv:UnspecifiedMatching MONDO:0003805 malignant pericardial mesothelioma skos:exactMatch UMLS:C1335381 semapv:UnspecifiedMatching MONDO:0003806 thyroid hyalinizing trabecular adenoma skos:exactMatch DOID:6203 thyroid hyalinizing trabecular adenoma semapv:UnspecifiedMatching MONDO:0003806 thyroid hyalinizing trabecular adenoma skos:exactMatch MEDGEN:277820 semapv:UnspecifiedMatching MONDO:0003806 thyroid hyalinizing trabecular adenoma skos:exactMatch NCIT:C6846 Thyroid Gland Hyalinizing Trabecular Tumor semapv:UnspecifiedMatching MONDO:0003806 thyroid hyalinizing trabecular adenoma skos:exactMatch UMLS:C1336751 semapv:UnspecifiedMatching MONDO:0003808 mediastinal extraskeletal osteosarcoma skos:exactMatch DOID:6208 mediastinal osteogenic sarcoma semapv:UnspecifiedMatching MONDO:0003808 mediastinal extraskeletal osteosarcoma skos:exactMatch MEDGEN:235314 semapv:UnspecifiedMatching MONDO:0003808 mediastinal extraskeletal osteosarcoma skos:exactMatch NCIT:C6615 Mediastinal Extraskeletal Osteosarcoma semapv:UnspecifiedMatching MONDO:0003808 mediastinal extraskeletal osteosarcoma skos:exactMatch UMLS:C1334675 semapv:UnspecifiedMatching MONDO:0003809 malignant mediastinum hemangiopericytoma skos:exactMatch DOID:6209 malignant mediastinum hemangiopericytoma semapv:UnspecifiedMatching MONDO:0003809 malignant mediastinum hemangiopericytoma skos:exactMatch MEDGEN:235298 semapv:UnspecifiedMatching MONDO:0003809 malignant mediastinum hemangiopericytoma skos:exactMatch NCIT:C6608 Malignant Mediastinal Hemangiopericytoma semapv:UnspecifiedMatching MONDO:0003809 malignant mediastinum hemangiopericytoma skos:exactMatch UMLS:C1334598 semapv:UnspecifiedMatching MONDO:0003810 bladder diffuse clear cell adenocarcinoma skos:exactMatch DOID:6210 bladder diffuse clear cell adenocarcinoma semapv:UnspecifiedMatching MONDO:0003810 bladder diffuse clear cell adenocarcinoma skos:exactMatch MEDGEN:267058 semapv:UnspecifiedMatching MONDO:0003810 bladder diffuse clear cell adenocarcinoma skos:exactMatch NCIT:C39849 Bladder Diffuse Clear Cell Adenocarcinoma semapv:UnspecifiedMatching MONDO:0003810 bladder diffuse clear cell adenocarcinoma skos:exactMatch UMLS:C1511187 semapv:UnspecifiedMatching MONDO:0003811 ovarian seromucinous tumor skos:exactMatch DOID:6211 mixed epithelial tumor of ovary semapv:UnspecifiedMatching MONDO:0003811 ovarian seromucinous tumor skos:exactMatch MEDGEN:83409 semapv:UnspecifiedMatching MONDO:0003811 ovarian seromucinous tumor skos:exactMatch NCIT:C4508 Ovarian Seromucinous Tumor semapv:UnspecifiedMatching MONDO:0003811 ovarian seromucinous tumor skos:exactMatch SCTID:254855000 semapv:UnspecifiedMatching MONDO:0003811 ovarian seromucinous tumor skos:exactMatch UMLS:C0346166 semapv:UnspecifiedMatching MONDO:0003812 ovarian endometrial cancer skos:exactMatch DOID:6212 ovarian endometrial cancer semapv:UnspecifiedMatching MONDO:0003812 ovarian endometrial cancer skos:exactMatch MEDGEN:276545 semapv:UnspecifiedMatching MONDO:0003812 ovarian endometrial cancer skos:exactMatch NCIT:C40051 Malignant Ovarian Endometrioid Tumor semapv:UnspecifiedMatching MONDO:0003812 ovarian endometrial cancer skos:exactMatch UMLS:C1518231 semapv:UnspecifiedMatching MONDO:0003813 ovarian papillary tumor skos:exactMatch DOID:6214 ovarian papillary neoplasm semapv:UnspecifiedMatching MONDO:0003813 ovarian papillary tumor skos:exactMatch MEDGEN:99195 semapv:UnspecifiedMatching MONDO:0003813 ovarian papillary tumor skos:exactMatch NCIT:C8430 Ovarian Papillary Tumor semapv:UnspecifiedMatching MONDO:0003813 ovarian papillary tumor skos:exactMatch UMLS:C0476121 semapv:UnspecifiedMatching MONDO:0003816 articular cartilage disorder skos:exactMatch DOID:6227 articular cartilage disease semapv:UnspecifiedMatching MONDO:0003816 articular cartilage disorder skos:exactMatch MEDGEN:510440 semapv:UnspecifiedMatching MONDO:0003816 articular cartilage disorder skos:exactMatch SCTID:53417006 semapv:UnspecifiedMatching MONDO:0003816 articular cartilage disorder skos:exactMatch UMLS:C0158073 semapv:UnspecifiedMatching MONDO:0003818 childhood mature teratoma of the ovary skos:exactMatch DOID:6229 childhood mature teratoma of the ovary semapv:UnspecifiedMatching MONDO:0003818 childhood mature teratoma of the ovary skos:exactMatch MEDGEN:232354 semapv:UnspecifiedMatching MONDO:0003818 childhood mature teratoma of the ovary skos:exactMatch NCIT:C6548 Childhood Ovarian Mature Teratoma semapv:UnspecifiedMatching MONDO:0003818 childhood mature teratoma of the ovary skos:exactMatch UMLS:C1332991 semapv:UnspecifiedMatching MONDO:0003819 childhood teratoma of the ovary skos:exactMatch DOID:6230 childhood teratoma of the ovary semapv:UnspecifiedMatching MONDO:0003819 childhood teratoma of the ovary skos:exactMatch MEDGEN:272466 semapv:UnspecifiedMatching MONDO:0003819 childhood teratoma of the ovary skos:exactMatch NCIT:C6554 Childhood Ovarian Teratoma semapv:UnspecifiedMatching MONDO:0003819 childhood teratoma of the ovary skos:exactMatch UMLS:C1332992 semapv:UnspecifiedMatching MONDO:0003820 mature ovarian teratoma skos:exactMatch DOID:6231 mature teratoma of the ovary semapv:UnspecifiedMatching MONDO:0003820 mature ovarian teratoma skos:exactMatch MEDGEN:233672 semapv:UnspecifiedMatching MONDO:0003820 mature ovarian teratoma skos:exactMatch NCIT:C8112 Mature Ovarian Teratoma semapv:UnspecifiedMatching MONDO:0003820 mature ovarian teratoma skos:exactMatch UMLS:C1334637 semapv:UnspecifiedMatching MONDO:0003821 ovarian biphasic or triphasic teratoma skos:exactMatch DOID:6232 ovarian biphasic or triphasic teratoma semapv:UnspecifiedMatching MONDO:0003821 ovarian biphasic or triphasic teratoma skos:exactMatch MEDGEN:274086 semapv:UnspecifiedMatching MONDO:0003821 ovarian biphasic or triphasic teratoma skos:exactMatch NCIT:C39992 Ovarian Biphasic or Triphasic Teratoma semapv:UnspecifiedMatching MONDO:0003821 ovarian biphasic or triphasic teratoma skos:exactMatch UMLS:C1518691 semapv:UnspecifiedMatching MONDO:0003822 non-invasive bladder papillary urothelial neoplasm skos:exactMatch DOID:6239 non-invasive bladder papillary urothelial neoplasm semapv:UnspecifiedMatching MONDO:0003822 non-invasive bladder papillary urothelial neoplasm skos:exactMatch MEDGEN:309424 semapv:UnspecifiedMatching MONDO:0003822 non-invasive bladder papillary urothelial neoplasm skos:exactMatch NCIT:C39831 Non-Invasive Bladder Papillary Urothelial Neoplasm semapv:UnspecifiedMatching MONDO:0003822 non-invasive bladder papillary urothelial neoplasm skos:exactMatch UMLS:C1518358 semapv:UnspecifiedMatching MONDO:0003824 hereditary kidney oncocytoma skos:exactMatch DOID:6244 familial renal oncocytoma semapv:UnspecifiedMatching MONDO:0003824 hereditary kidney oncocytoma skos:exactMatch MEDGEN:209307 semapv:UnspecifiedMatching MONDO:0003824 hereditary kidney oncocytoma skos:exactMatch NCIT:C8960 Hereditary Kidney Oncocytoma semapv:UnspecifiedMatching MONDO:0003824 hereditary kidney oncocytoma skos:exactMatch UMLS:C0879606 semapv:UnspecifiedMatching MONDO:0003825 kidney oncocytoma skos:exactMatch DOID:6245 renal oncocytoma semapv:UnspecifiedMatching MONDO:0003825 kidney oncocytoma skos:exactMatch MEDGEN:91094 semapv:UnspecifiedMatching MONDO:0003825 kidney oncocytoma skos:exactMatch NCIT:C4526 Kidney Oncocytoma semapv:UnspecifiedMatching MONDO:0003825 kidney oncocytoma skos:exactMatch SCTID:254922006 semapv:UnspecifiedMatching MONDO:0003825 kidney oncocytoma skos:exactMatch UMLS:C0346255 semapv:UnspecifiedMatching MONDO:0003825 kidney oncocytoma skos:exactMatch mesh:C537750 semapv:UnspecifiedMatching MONDO:0003826 mediastinum seminoma skos:exactMatch DOID:6249 mediastinum seminoma semapv:UnspecifiedMatching MONDO:0003826 mediastinum seminoma skos:exactMatch MEDGEN:277355 semapv:UnspecifiedMatching MONDO:0003826 mediastinum seminoma skos:exactMatch NCIT:C6812 Mediastinal Seminoma semapv:UnspecifiedMatching MONDO:0003826 mediastinum seminoma skos:exactMatch UMLS:C1334680 semapv:UnspecifiedMatching MONDO:0003827 transient hypogammaglobulinemia skos:exactMatch DOID:625 transient hypogammaglobulinemia semapv:UnspecifiedMatching MONDO:0003827 transient hypogammaglobulinemia skos:exactMatch MEDGEN:167815 semapv:UnspecifiedMatching MONDO:0003827 transient hypogammaglobulinemia skos:exactMatch NCIT:C27319 Transient Hypogammaglobulinemia semapv:UnspecifiedMatching MONDO:0003827 transient hypogammaglobulinemia skos:exactMatch UMLS:C0859960 semapv:UnspecifiedMatching MONDO:0003828 growth hormone-producing pituitary gland carcinoma skos:exactMatch DOID:6256 malignant growth hormone secreting neoplasm of pituitary semapv:UnspecifiedMatching MONDO:0003828 growth hormone-producing pituitary gland carcinoma skos:exactMatch MEDGEN:277331 semapv:UnspecifiedMatching MONDO:0003828 growth hormone-producing pituitary gland carcinoma skos:exactMatch NCIT:C5963 Metastatic Somatotroph Pituitary Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO:0003828 growth hormone-producing pituitary gland carcinoma skos:exactMatch UMLS:C1334587 semapv:UnspecifiedMatching MONDO:0003829 chromophil adenoma of the kidney skos:exactMatch DOID:6257 chromophil adenoma of the kidney semapv:UnspecifiedMatching MONDO:0003829 chromophil adenoma of the kidney skos:exactMatch MEDGEN:309551 semapv:UnspecifiedMatching MONDO:0003829 chromophil adenoma of the kidney skos:exactMatch NCIT:C3687 Renal Papillary Adenoma semapv:UnspecifiedMatching MONDO:0003829 chromophil adenoma of the kidney skos:exactMatch UMLS:C1518879 semapv:UnspecifiedMatching MONDO:0003830 type 1 papillary adenoma of the kidney skos:exactMatch DOID:6258 type 1 papillary adenoma of the kidney semapv:UnspecifiedMatching MONDO:0003830 type 1 papillary adenoma of the kidney skos:exactMatch MEDGEN:276906 semapv:UnspecifiedMatching MONDO:0003830 type 1 papillary adenoma of the kidney skos:exactMatch NCIT:C39809 Type 1 Renal Papillary Adenoma semapv:UnspecifiedMatching MONDO:0003830 type 1 papillary adenoma of the kidney skos:exactMatch UMLS:C1519706 semapv:UnspecifiedMatching MONDO:0003831 type 2 papillary adenoma of the kidney skos:exactMatch DOID:6259 type 2 papillary adenoma of the kidney semapv:UnspecifiedMatching MONDO:0003831 type 2 papillary adenoma of the kidney skos:exactMatch MEDGEN:311387 semapv:UnspecifiedMatching MONDO:0003831 type 2 papillary adenoma of the kidney skos:exactMatch NCIT:C39810 Type 2 Renal Papillary Adenoma semapv:UnspecifiedMatching MONDO:0003831 type 2 papillary adenoma of the kidney skos:exactMatch UMLS:C1519710 semapv:UnspecifiedMatching MONDO:0003832 complement deficiency skos:exactMatch DOID:626 complement deficiency semapv:UnspecifiedMatching MONDO:0003832 complement deficiency skos:exactMatch MEDGEN:82898 semapv:UnspecifiedMatching MONDO:0003832 complement deficiency skos:exactMatch NCIT:C4691 Complement Deficiency semapv:UnspecifiedMatching MONDO:0003832 complement deficiency skos:exactMatch Orphanet:459345 Immunodeficiency due to a complement cascade component deficiency semapv:UnspecifiedMatching MONDO:0003832 complement deficiency skos:exactMatch SCTID:24743004 semapv:UnspecifiedMatching MONDO:0003832 complement deficiency skos:exactMatch UMLS:C0272242 semapv:UnspecifiedMatching MONDO:0003834 gastric cardia carcinoma skos:exactMatch DOID:6270 gastric cardia carcinoma semapv:UnspecifiedMatching MONDO:0003834 gastric cardia carcinoma skos:exactMatch EFO:1001252 semapv:UnspecifiedMatching MONDO:0003834 gastric cardia carcinoma skos:exactMatch MEDGEN:234295 semapv:UnspecifiedMatching MONDO:0003834 gastric cardia carcinoma skos:exactMatch NCIT:C6794 Gastric Cardia Carcinoma semapv:UnspecifiedMatching MONDO:0003834 gastric cardia carcinoma skos:exactMatch UMLS:C1333763 semapv:UnspecifiedMatching MONDO:0003835 gastric cardia adenocarcinoma skos:exactMatch DOID:6271 gastric cardia adenocarcinoma semapv:UnspecifiedMatching MONDO:0003835 gastric cardia adenocarcinoma skos:exactMatch MEDGEN:232543 semapv:UnspecifiedMatching MONDO:0003835 gastric cardia adenocarcinoma skos:exactMatch NCIT:C5247 Gastric Cardia Adenocarcinoma semapv:UnspecifiedMatching MONDO:0003835 gastric cardia adenocarcinoma skos:exactMatch UMLS:C1333762 semapv:UnspecifiedMatching MONDO:0003835 gastric cardia adenocarcinoma skos:exactMatch icd11.foundation:323129890 Adenocarcinoma of cardia of stomach semapv:UnspecifiedMatching MONDO:0003836 malignant thyroid stimulating hormone producing neoplasm of pituitary gland skos:exactMatch DOID:6274 malignant thyroid stimulating hormone producing neoplasm of pituitary gland semapv:UnspecifiedMatching MONDO:0003836 malignant thyroid stimulating hormone producing neoplasm of pituitary gland skos:exactMatch MEDGEN:277341 semapv:UnspecifiedMatching MONDO:0003836 malignant thyroid stimulating hormone producing neoplasm of pituitary gland skos:exactMatch NCIT:C5965 Metastatic Thyrotroph Pituitary Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO:0003836 malignant thyroid stimulating hormone producing neoplasm of pituitary gland skos:exactMatch UMLS:C1334627 semapv:UnspecifiedMatching MONDO:0003837 TSH producing pituitary tumor skos:exactMatch DOID:6275 TSH producing pituitary tumor semapv:UnspecifiedMatching MONDO:0003837 TSH producing pituitary tumor skos:exactMatch MEDGEN:391700 semapv:UnspecifiedMatching MONDO:0003837 TSH producing pituitary tumor skos:exactMatch NCIT:C7915 Thyrotroph Pituitary Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO:0003837 TSH producing pituitary tumor skos:exactMatch SCTID:254959007 semapv:UnspecifiedMatching MONDO:0003837 TSH producing pituitary tumor skos:exactMatch UMLS:C2362538 semapv:UnspecifiedMatching MONDO:0003839 ovarian mucinous adenocarcinofibroma skos:exactMatch DOID:6278 ovarian mucinous malignant adenofibroma semapv:UnspecifiedMatching MONDO:0003839 ovarian mucinous adenocarcinofibroma skos:exactMatch MEDGEN:384497 semapv:UnspecifiedMatching MONDO:0003839 ovarian mucinous adenocarcinofibroma skos:exactMatch NCIT:C40034 Ovarian Mucinous Adenocarcinofibroma semapv:UnspecifiedMatching MONDO:0003839 ovarian mucinous adenocarcinofibroma skos:exactMatch UMLS:C2212014 semapv:UnspecifiedMatching MONDO:0003840 epicardium lipoma skos:exactMatch DOID:6284 epicardium lipoma semapv:UnspecifiedMatching MONDO:0003840 epicardium lipoma skos:exactMatch MEDGEN:234221 semapv:UnspecifiedMatching MONDO:0003840 epicardium lipoma skos:exactMatch NCIT:C6742 Epicardial Lipoma semapv:UnspecifiedMatching MONDO:0003840 epicardium lipoma skos:exactMatch UMLS:C1333411 semapv:UnspecifiedMatching MONDO:0003841 heart lipoma skos:exactMatch DOID:6285 heart lipoma semapv:UnspecifiedMatching MONDO:0003841 heart lipoma skos:exactMatch MEDGEN:272436 semapv:UnspecifiedMatching MONDO:0003841 heart lipoma skos:exactMatch NCIT:C6741 Cardiac Lipoma semapv:UnspecifiedMatching MONDO:0003841 heart lipoma skos:exactMatch UMLS:C1332849 semapv:UnspecifiedMatching MONDO:0003842 childhood cerebellar astrocytic neoplasm skos:exactMatch DOID:6286 childhood cerebellar astrocytic neoplasm semapv:UnspecifiedMatching MONDO:0003842 childhood cerebellar astrocytic neoplasm skos:exactMatch MEDGEN:124480 semapv:UnspecifiedMatching MONDO:0003842 childhood cerebellar astrocytic neoplasm skos:exactMatch NCIT:C6286 Childhood Cerebellar Astrocytoma semapv:UnspecifiedMatching MONDO:0003842 childhood cerebellar astrocytic neoplasm skos:exactMatch UMLS:C0278594 semapv:UnspecifiedMatching MONDO:0003843 cerebral hemisphere lipoma skos:exactMatch DOID:6291 cerebral hemisphere lipoma semapv:UnspecifiedMatching MONDO:0003843 cerebral hemisphere lipoma skos:exactMatch MEDGEN:234111 semapv:UnspecifiedMatching MONDO:0003843 cerebral hemisphere lipoma skos:exactMatch NCIT:C6220 Cerebral Hemisphere Lipoma semapv:UnspecifiedMatching MONDO:0003843 cerebral hemisphere lipoma skos:exactMatch UMLS:C1332907 semapv:UnspecifiedMatching MONDO:0003844 central nervous system lipoma skos:exactMatch DOID:6293 central nervous system lipoma semapv:UnspecifiedMatching MONDO:0003844 central nervous system lipoma skos:exactMatch MEDGEN:272443 semapv:UnspecifiedMatching MONDO:0003844 central nervous system lipoma skos:exactMatch NCIT:C5451 Central Nervous System Lipoma semapv:UnspecifiedMatching MONDO:0003844 central nervous system lipoma skos:exactMatch UMLS:C1332885 semapv:UnspecifiedMatching MONDO:0003845 corpus callosum lipoma skos:exactMatch DOID:6294 corpus callosum lipoma semapv:UnspecifiedMatching MONDO:0003845 corpus callosum lipoma skos:exactMatch MEDGEN:272510 semapv:UnspecifiedMatching MONDO:0003845 corpus callosum lipoma skos:exactMatch NCIT:C5438 Corpus Callosum Lipoma semapv:UnspecifiedMatching MONDO:0003845 corpus callosum lipoma skos:exactMatch UMLS:C1333160 semapv:UnspecifiedMatching MONDO:0003846 viral esophagitis skos:exactMatch DOID:6297 viral esophagitis semapv:UnspecifiedMatching MONDO:0003846 viral esophagitis skos:exactMatch MEDGEN:87414 semapv:UnspecifiedMatching MONDO:0003846 viral esophagitis skos:exactMatch NCIT:C27108 Viral Esophagitis semapv:UnspecifiedMatching MONDO:0003846 viral esophagitis skos:exactMatch SCTID:235603003 semapv:UnspecifiedMatching MONDO:0003846 viral esophagitis skos:exactMatch UMLS:C0341110 semapv:UnspecifiedMatching MONDO:0003847 hereditary disease skos:exactMatch DOID:630 genetic disease semapv:UnspecifiedMatching MONDO:0003847 hereditary disease skos:exactMatch EFO:0000508 semapv:UnspecifiedMatching MONDO:0003847 hereditary disease skos:exactMatch MEDGEN:5527 semapv:UnspecifiedMatching MONDO:0003847 hereditary disease skos:exactMatch NCIT:C3101 Genetic Disorder semapv:UnspecifiedMatching MONDO:0003847 hereditary disease skos:exactMatch SCTID:32895009 semapv:UnspecifiedMatching MONDO:0003847 hereditary disease skos:exactMatch UMLS:C0019247 semapv:UnspecifiedMatching MONDO:0003847 hereditary disease skos:exactMatch mesh:D030342 semapv:UnspecifiedMatching MONDO:0003848 ectopic thymus skos:exactMatch DOID:6307 ectopic thymus semapv:UnspecifiedMatching MONDO:0003848 ectopic thymus skos:exactMatch MEDGEN:232148 semapv:UnspecifiedMatching MONDO:0003848 ectopic thymus skos:exactMatch NCIT:C27804 Ectopic Thymus semapv:UnspecifiedMatching MONDO:0003848 ectopic thymus skos:exactMatch UMLS:C1333375 semapv:UnspecifiedMatching MONDO:0003849 clivus chordoma skos:exactMatch DOID:6312 clivus chordoma semapv:UnspecifiedMatching MONDO:0003849 clivus chordoma skos:exactMatch MEDGEN:232372 semapv:UnspecifiedMatching MONDO:0003849 clivus chordoma skos:exactMatch NCIT:C5412 Clivus Chordoma semapv:UnspecifiedMatching MONDO:0003849 clivus chordoma skos:exactMatch SCTID:446939001 semapv:UnspecifiedMatching MONDO:0003849 clivus chordoma skos:exactMatch UMLS:C1333071 semapv:UnspecifiedMatching MONDO:0003850 clivus chondroid chordoma skos:exactMatch DOID:6313 clivus chondroid chordoma semapv:UnspecifiedMatching MONDO:0003850 clivus chondroid chordoma skos:exactMatch MEDGEN:232373 semapv:UnspecifiedMatching MONDO:0003850 clivus chondroid chordoma skos:exactMatch NCIT:C5426 Clivus Chondroid Chordoma semapv:UnspecifiedMatching MONDO:0003850 clivus chondroid chordoma skos:exactMatch UMLS:C1333072 semapv:UnspecifiedMatching MONDO:0003851 ovarian fetiform teratoma skos:exactMatch DOID:6314 ovarian fetiform teratoma semapv:UnspecifiedMatching MONDO:0003851 ovarian fetiform teratoma skos:exactMatch MEDGEN:276666 semapv:UnspecifiedMatching MONDO:0003851 ovarian fetiform teratoma skos:exactMatch NCIT:C39996 Ovarian Fetiform Teratoma semapv:UnspecifiedMatching MONDO:0003851 ovarian fetiform teratoma skos:exactMatch UMLS:C1518715 semapv:UnspecifiedMatching MONDO:0003852 ovarian solid teratoma skos:exactMatch DOID:6315 ovarian solid teratoma semapv:UnspecifiedMatching MONDO:0003852 ovarian solid teratoma skos:exactMatch MEDGEN:233810 semapv:UnspecifiedMatching MONDO:0003852 ovarian solid teratoma skos:exactMatch NCIT:C7285 Ovarian Solid Teratoma semapv:UnspecifiedMatching MONDO:0003852 ovarian solid teratoma skos:exactMatch UMLS:C1335181 semapv:UnspecifiedMatching MONDO:0003853 Bartholin gland adenocarcinoma skos:exactMatch DOID:6316 Bartholin's gland adenocarcinoma semapv:UnspecifiedMatching MONDO:0003853 Bartholin gland adenocarcinoma skos:exactMatch MEDGEN:116035 semapv:UnspecifiedMatching MONDO:0003853 Bartholin gland adenocarcinoma skos:exactMatch NCIT:C7719 Bartholin Gland Adenocarcinoma semapv:UnspecifiedMatching MONDO:0003853 Bartholin gland adenocarcinoma skos:exactMatch UMLS:C0238016 semapv:UnspecifiedMatching MONDO:0003856 adult malignant hemangiopericytoma skos:exactMatch DOID:6332 adult malignant hemangiopericytoma semapv:UnspecifiedMatching MONDO:0003856 adult malignant hemangiopericytoma skos:exactMatch MEDGEN:83522 semapv:UnspecifiedMatching MONDO:0003856 adult malignant hemangiopericytoma skos:exactMatch NCIT:C7946 Malignant Adult Hemangiopericytoma semapv:UnspecifiedMatching MONDO:0003856 adult malignant hemangiopericytoma skos:exactMatch UMLS:C0279547 semapv:UnspecifiedMatching MONDO:0003857 adult intracranial malignant hemangiopericytoma skos:exactMatch DOID:6333 adult intracranial malignant hemangiopericytoma semapv:UnspecifiedMatching MONDO:0003857 adult intracranial malignant hemangiopericytoma skos:exactMatch MEDGEN:235288 semapv:UnspecifiedMatching MONDO:0003857 adult intracranial malignant hemangiopericytoma skos:exactMatch NCIT:C9183 Adult Central Nervous System Solitary Fibrous Tumor, Grade 3 semapv:UnspecifiedMatching MONDO:0003857 adult intracranial malignant hemangiopericytoma skos:exactMatch UMLS:C1334558 semapv:UnspecifiedMatching MONDO:0003858 anterior optic tract meningioma skos:exactMatch DOID:6334 anterior optic tract meningioma semapv:UnspecifiedMatching MONDO:0003858 anterior optic tract meningioma skos:exactMatch MEDGEN:231382 semapv:UnspecifiedMatching MONDO:0003858 anterior optic tract meningioma skos:exactMatch NCIT:C7538 Anterior Visual Pathway Meningioma semapv:UnspecifiedMatching MONDO:0003858 anterior optic tract meningioma skos:exactMatch UMLS:C1332308 semapv:UnspecifiedMatching MONDO:0003859 bilateral meningioma of optic nerve skos:exactMatch DOID:6335 bilateral meningioma of optic nerve semapv:UnspecifiedMatching MONDO:0003859 bilateral meningioma of optic nerve skos:exactMatch MEDGEN:231442 semapv:UnspecifiedMatching MONDO:0003859 bilateral meningioma of optic nerve skos:exactMatch NCIT:C5304 Bilateral Optic Nerve Sheath Meningioma semapv:UnspecifiedMatching MONDO:0003859 bilateral meningioma of optic nerve skos:exactMatch UMLS:C1332551 semapv:UnspecifiedMatching MONDO:0003860 cerebellopontine angle meningioma skos:exactMatch DOID:6337 cerebellopontine angle meningioma semapv:UnspecifiedMatching MONDO:0003860 cerebellopontine angle meningioma skos:exactMatch MEDGEN:220388 semapv:UnspecifiedMatching MONDO:0003860 cerebellopontine angle meningioma skos:exactMatch NCIT:C5300 Cerebellopontine Angle Meningioma semapv:UnspecifiedMatching MONDO:0003860 cerebellopontine angle meningioma skos:exactMatch SCTID:126948004 semapv:UnspecifiedMatching MONDO:0003860 cerebellopontine angle meningioma skos:exactMatch UMLS:C1263882 semapv:UnspecifiedMatching MONDO:0003861 vulvar eccrine adenocarcinoma skos:exactMatch DOID:6339 vulvar eccrine adenocarcinoma semapv:UnspecifiedMatching MONDO:0003861 vulvar eccrine adenocarcinoma skos:exactMatch MEDGEN:384495 semapv:UnspecifiedMatching MONDO:0003861 vulvar eccrine adenocarcinoma skos:exactMatch NCIT:C40305 Vulvar Eccrine Carcinoma semapv:UnspecifiedMatching MONDO:0003861 vulvar eccrine adenocarcinoma skos:exactMatch UMLS:C2202743 semapv:UnspecifiedMatching MONDO:0003862 melanotic psammomatous malignant peripheral nerve sheath tumor skos:exactMatch DOID:6344 melanotic psammomatous malignant peripheral nerve sheath tumor semapv:UnspecifiedMatching MONDO:0003862 melanotic psammomatous malignant peripheral nerve sheath tumor skos:exactMatch MEDGEN:730167 semapv:UnspecifiedMatching MONDO:0003862 melanotic psammomatous malignant peripheral nerve sheath tumor skos:exactMatch NCIT:C6910 Malignant Melanotic Psammomatous Peripheral Nerve Sheath Tumor semapv:UnspecifiedMatching MONDO:0003862 melanotic psammomatous malignant peripheral nerve sheath tumor skos:exactMatch UMLS:C1321709 semapv:UnspecifiedMatching MONDO:0003863 malignant melanocytic neoplasm of the peripheral nerve sheath skos:exactMatch DOID:6345 malignant melanocytic neoplasm of the peripheral nerve sheath semapv:UnspecifiedMatching MONDO:0003863 malignant melanocytic neoplasm of the peripheral nerve sheath skos:exactMatch MEDGEN:99184 semapv:UnspecifiedMatching MONDO:0003863 malignant melanocytic neoplasm of the peripheral nerve sheath skos:exactMatch NCIT:C4748 Malignant Melanotic Peripheral Nerve Sheath Tumor semapv:UnspecifiedMatching MONDO:0003863 malignant melanocytic neoplasm of the peripheral nerve sheath skos:exactMatch SCTID:404039004 semapv:UnspecifiedMatching MONDO:0003863 malignant melanocytic neoplasm of the peripheral nerve sheath skos:exactMatch UMLS:C0474847 semapv:UnspecifiedMatching MONDO:0003864 chronic lymphocytic leukemia/small lymphocytic lymphoma skos:exactMatch DOID:6354 chronic lymphocytic leukemia/small lymphocytic lymphoma semapv:UnspecifiedMatching MONDO:0003864 chronic lymphocytic leukemia/small lymphocytic lymphoma skos:exactMatch MEDGEN:224906 semapv:UnspecifiedMatching MONDO:0003864 chronic lymphocytic leukemia/small lymphocytic lymphoma skos:exactMatch NCIT:C27911 Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma semapv:UnspecifiedMatching MONDO:0003864 chronic lymphocytic leukemia/small lymphocytic lymphoma skos:exactMatch UMLS:C1302547 semapv:UnspecifiedMatching MONDO:0003865 acral lentiginous melanoma skos:exactMatch DOID:6367 acral lentiginous melanoma semapv:UnspecifiedMatching MONDO:0003865 acral lentiginous melanoma skos:exactMatch MEDGEN:87530 semapv:UnspecifiedMatching MONDO:0003865 acral lentiginous melanoma skos:exactMatch NCIT:C4022 Acral Lentiginous Melanoma semapv:UnspecifiedMatching MONDO:0003865 acral lentiginous melanoma skos:exactMatch SCTID:254732008 semapv:UnspecifiedMatching MONDO:0003865 acral lentiginous melanoma skos:exactMatch UMLS:C0346037 semapv:UnspecifiedMatching MONDO:0003866 liver extraskeletal osteosarcoma skos:exactMatch DOID:6370 hepatic osteogenic sarcoma semapv:UnspecifiedMatching MONDO:0003866 liver extraskeletal osteosarcoma skos:exactMatch MEDGEN:232597 semapv:UnspecifiedMatching MONDO:0003866 liver extraskeletal osteosarcoma skos:exactMatch NCIT:C5833 Liver Extraskeletal Osteosarcoma semapv:UnspecifiedMatching MONDO:0003866 liver extraskeletal osteosarcoma skos:exactMatch UMLS:C1333974 semapv:UnspecifiedMatching MONDO:0003867 diffuse meningeal melanocytosis skos:exactMatch DOID:6379 diffuse meningeal melanocytosis semapv:UnspecifiedMatching MONDO:0003867 diffuse meningeal melanocytosis skos:exactMatch MEDGEN:226841 semapv:UnspecifiedMatching MONDO:0003867 diffuse meningeal melanocytosis skos:exactMatch NCIT:C6890 Meningeal Melanocytosis semapv:UnspecifiedMatching MONDO:0003867 diffuse meningeal melanocytosis skos:exactMatch UMLS:C1266112 semapv:UnspecifiedMatching MONDO:0003868 anterior foramen magnum meningioma skos:exactMatch DOID:6381 anterior foramen magnum meningioma semapv:UnspecifiedMatching MONDO:0003868 anterior foramen magnum meningioma skos:exactMatch MEDGEN:233988 semapv:UnspecifiedMatching MONDO:0003868 anterior foramen magnum meningioma skos:exactMatch NCIT:C5281 Anterior Foramen Magnum Meningioma semapv:UnspecifiedMatching MONDO:0003868 anterior foramen magnum meningioma skos:exactMatch UMLS:C1332302 semapv:UnspecifiedMatching MONDO:0003869 childhood brain stem glioma skos:exactMatch DOID:6383 childhood brain stem glioma semapv:UnspecifiedMatching MONDO:0003869 childhood brain stem glioma skos:exactMatch MEDGEN:124481 semapv:UnspecifiedMatching MONDO:0003869 childhood brain stem glioma skos:exactMatch NCIT:C9042 Childhood Brain Stem Glioma semapv:UnspecifiedMatching MONDO:0003869 childhood brain stem glioma skos:exactMatch UMLS:C0278600 semapv:UnspecifiedMatching MONDO:0003870 childhood brainstem astrocytoma skos:exactMatch DOID:6386 childhood brainstem astrocytoma semapv:UnspecifiedMatching MONDO:0003870 childhood brainstem astrocytoma skos:exactMatch MEDGEN:234123 semapv:UnspecifiedMatching MONDO:0003870 childhood brainstem astrocytoma skos:exactMatch NCIT:C6216 Childhood Brain Stem Astrocytoma semapv:UnspecifiedMatching MONDO:0003870 childhood brainstem astrocytoma skos:exactMatch UMLS:C1332950 semapv:UnspecifiedMatching MONDO:0003872 ovarian papillary cystadenoma skos:exactMatch DOID:6405 ovarian papillary cystadenoma semapv:UnspecifiedMatching MONDO:0003872 ovarian papillary cystadenoma skos:exactMatch MEDGEN:233276 semapv:UnspecifiedMatching MONDO:0003872 ovarian papillary cystadenoma skos:exactMatch NCIT:C7278 Ovarian Papillary Cystadenoma semapv:UnspecifiedMatching MONDO:0003872 ovarian papillary cystadenoma skos:exactMatch UMLS:C1335175 semapv:UnspecifiedMatching MONDO:0003873 ovarian surface papilloma skos:exactMatch DOID:6407 ovarian surface papilloma semapv:UnspecifiedMatching MONDO:0003873 ovarian surface papilloma skos:exactMatch MEDGEN:235423 semapv:UnspecifiedMatching MONDO:0003873 ovarian surface papilloma skos:exactMatch NCIT:C7279 Ovarian Surface Papilloma semapv:UnspecifiedMatching MONDO:0003873 ovarian surface papilloma skos:exactMatch UMLS:C1335183 semapv:UnspecifiedMatching MONDO:0003874 ovarian serous surface papillary adenocarcinoma skos:exactMatch DOID:6408 ovary papillary carcinoma semapv:UnspecifiedMatching MONDO:0003874 ovarian serous surface papillary adenocarcinoma skos:exactMatch MEDGEN:233279 semapv:UnspecifiedMatching MONDO:0003874 ovarian serous surface papillary adenocarcinoma skos:exactMatch UMLS:C1335178 semapv:UnspecifiedMatching MONDO:0003875 childhood central nervous system mature teratoma skos:exactMatch DOID:6423 childhood central nervous system mature teratoma semapv:UnspecifiedMatching MONDO:0003875 childhood central nervous system mature teratoma skos:exactMatch MEDGEN:232345 semapv:UnspecifiedMatching MONDO:0003875 childhood central nervous system mature teratoma skos:exactMatch NCIT:C27404 Childhood Central Nervous System Mature Teratoma semapv:UnspecifiedMatching MONDO:0003875 childhood central nervous system mature teratoma skos:exactMatch UMLS:C1332955 semapv:UnspecifiedMatching MONDO:0003876 eyelid carcinoma skos:exactMatch DOID:6425 eyelid carcinoma semapv:UnspecifiedMatching MONDO:0003876 eyelid carcinoma skos:exactMatch MEDGEN:182526 semapv:UnspecifiedMatching MONDO:0003876 eyelid carcinoma skos:exactMatch NCIT:C6078 Eyelid Carcinoma semapv:UnspecifiedMatching MONDO:0003876 eyelid carcinoma skos:exactMatch UMLS:C0920196 semapv:UnspecifiedMatching MONDO:0003878 malignant choroid melanoma skos:exactMatch DOID:6438 malignant choroid melanoma semapv:UnspecifiedMatching MONDO:0003878 malignant choroid melanoma skos:exactMatch MEDGEN:138064 semapv:UnspecifiedMatching MONDO:0003878 malignant choroid melanoma skos:exactMatch NCIT:C4561 Choroid Melanoma semapv:UnspecifiedMatching MONDO:0003878 malignant choroid melanoma skos:exactMatch SCTID:255021005 semapv:UnspecifiedMatching MONDO:0003878 malignant choroid melanoma skos:exactMatch UMLS:C0346388 semapv:UnspecifiedMatching MONDO:0003879 ovarian endometrioid adenocarcinofibroma skos:exactMatch DOID:6445 ovarian endometrioid malignant adenofibroma semapv:UnspecifiedMatching MONDO:0003879 ovarian endometrioid adenocarcinofibroma skos:exactMatch MEDGEN:276664 semapv:UnspecifiedMatching MONDO:0003879 ovarian endometrioid adenocarcinofibroma skos:exactMatch NCIT:C40060 Ovarian Endometrioid Adenocarcinofibroma semapv:UnspecifiedMatching MONDO:0003879 ovarian endometrioid adenocarcinofibroma skos:exactMatch UMLS:C1518711 semapv:UnspecifiedMatching MONDO:0003880 ceruminous carcinoma skos:exactMatch DOID:6446 ceruminous adenocarcinoma semapv:UnspecifiedMatching MONDO:0003880 ceruminous carcinoma skos:exactMatch MEDGEN:83135 semapv:UnspecifiedMatching MONDO:0003880 ceruminous carcinoma skos:exactMatch NCIT:C4176 Ceruminous Adenocarcinoma semapv:UnspecifiedMatching MONDO:0003880 ceruminous carcinoma skos:exactMatch UMLS:C0334353 semapv:UnspecifiedMatching MONDO:0003881 vulvar apocrine adenocarcinoma skos:exactMatch DOID:6448 vulvar apocrine adenocarcinoma semapv:UnspecifiedMatching MONDO:0003881 vulvar apocrine adenocarcinoma skos:exactMatch MEDGEN:384494 semapv:UnspecifiedMatching MONDO:0003881 vulvar apocrine adenocarcinoma skos:exactMatch NCIT:C40308 Vulvar Apocrine Adenocarcinoma semapv:UnspecifiedMatching MONDO:0003881 vulvar apocrine adenocarcinoma skos:exactMatch UMLS:C2202741 semapv:UnspecifiedMatching MONDO:0003882 central nervous system fibrosarcoma skos:exactMatch DOID:6451 central nervous system fibrosarcoma semapv:UnspecifiedMatching MONDO:0003882 central nervous system fibrosarcoma skos:exactMatch MEDGEN:232039 semapv:UnspecifiedMatching MONDO:0003882 central nervous system fibrosarcoma skos:exactMatch NCIT:C5465 Central Nervous System Fibrosarcoma semapv:UnspecifiedMatching MONDO:0003882 central nervous system fibrosarcoma skos:exactMatch UMLS:C1332879 semapv:UnspecifiedMatching MONDO:0003884 lipoma of the rectum skos:exactMatch DOID:6459 rectal lipoma semapv:UnspecifiedMatching MONDO:0003884 lipoma of the rectum skos:exactMatch MEDGEN:233392 semapv:UnspecifiedMatching MONDO:0003884 lipoma of the rectum skos:exactMatch NCIT:C5551 Rectal Lipoma semapv:UnspecifiedMatching MONDO:0003884 lipoma of the rectum skos:exactMatch UMLS:C1335684 semapv:UnspecifiedMatching MONDO:0003885 colorectal lipoma skos:exactMatch DOID:6460 large intestine lipoma semapv:UnspecifiedMatching MONDO:0003885 colorectal lipoma skos:exactMatch MEDGEN:232382 semapv:UnspecifiedMatching MONDO:0003885 colorectal lipoma skos:exactMatch NCIT:C5678 Colorectal Lipoma semapv:UnspecifiedMatching MONDO:0003885 colorectal lipoma skos:exactMatch UMLS:C1333114 semapv:UnspecifiedMatching MONDO:0003886 mucinous cystadenofibroma skos:exactMatch DOID:6468 mucinous cystadenofibroma semapv:UnspecifiedMatching MONDO:0003886 mucinous cystadenofibroma skos:exactMatch MEDGEN:234608 semapv:UnspecifiedMatching MONDO:0003886 mucinous cystadenofibroma skos:exactMatch NCIT:C8979 Mucinous Cystadenofibroma semapv:UnspecifiedMatching MONDO:0003886 mucinous cystadenofibroma skos:exactMatch UMLS:C1377844 semapv:UnspecifiedMatching MONDO:0003887 ovarian mucinous adenofibroma skos:exactMatch DOID:6469 ovarian mucinous adenofibroma semapv:UnspecifiedMatching MONDO:0003887 ovarian mucinous adenofibroma skos:exactMatch MEDGEN:309511 semapv:UnspecifiedMatching MONDO:0003887 ovarian mucinous adenofibroma skos:exactMatch NCIT:C40040 Ovarian Mucinous Adenofibroma semapv:UnspecifiedMatching MONDO:0003887 ovarian mucinous adenofibroma skos:exactMatch UMLS:C1518723 semapv:UnspecifiedMatching MONDO:0003888 childhood testicular mixed embryonal carcinoma and teratoma skos:exactMatch DOID:6474 childhood teratocarcinoma of the testis semapv:UnspecifiedMatching MONDO:0003888 childhood testicular mixed embryonal carcinoma and teratoma skos:exactMatch MEDGEN:234137 semapv:UnspecifiedMatching MONDO:0003888 childhood testicular mixed embryonal carcinoma and teratoma skos:exactMatch NCIT:C6539 Childhood Testicular Mixed Embryonal Carcinoma and Teratoma semapv:UnspecifiedMatching MONDO:0003888 childhood testicular mixed embryonal carcinoma and teratoma skos:exactMatch UMLS:C1333008 semapv:UnspecifiedMatching MONDO:0003889 infiltrating bladder urothelial carcinoma, clear cell variant skos:exactMatch DOID:6476 clear cell variant infiltrating bladder urothelial carcinoma semapv:UnspecifiedMatching MONDO:0003889 infiltrating bladder urothelial carcinoma, clear cell variant skos:exactMatch MEDGEN:268572 semapv:UnspecifiedMatching MONDO:0003889 infiltrating bladder urothelial carcinoma, clear cell variant skos:exactMatch NCIT:C39827 Invasive Bladder Clear Cell (Glycogen-Rich) Urothelial Carcinoma semapv:UnspecifiedMatching MONDO:0003889 infiltrating bladder urothelial carcinoma, clear cell variant skos:exactMatch UMLS:C1512737 semapv:UnspecifiedMatching MONDO:0003890 infiltrating bladder urothelial carcinoma skos:exactMatch DOID:6477 invasive bladder transitional cell carcinoma semapv:UnspecifiedMatching MONDO:0003890 infiltrating bladder urothelial carcinoma skos:exactMatch MEDGEN:233582 semapv:UnspecifiedMatching MONDO:0003890 infiltrating bladder urothelial carcinoma skos:exactMatch NCIT:C27885 Invasive Bladder Urothelial Carcinoma semapv:UnspecifiedMatching MONDO:0003890 infiltrating bladder urothelial carcinoma skos:exactMatch UMLS:C1334281 semapv:UnspecifiedMatching MONDO:0003891 bladder signet ring cell adenocarcinoma skos:exactMatch DOID:6481 bladder signet ring cell adenocarcinoma semapv:UnspecifiedMatching MONDO:0003891 bladder signet ring cell adenocarcinoma skos:exactMatch MEDGEN:231949 semapv:UnspecifiedMatching MONDO:0003891 bladder signet ring cell adenocarcinoma skos:exactMatch NCIT:C6163 Bladder Signet Ring Cell Adenocarcinoma semapv:UnspecifiedMatching MONDO:0003891 bladder signet ring cell adenocarcinoma skos:exactMatch UMLS:C1332563 semapv:UnspecifiedMatching MONDO:0003892 acinar lung adenocarcinoma skos:exactMatch DOID:6482 lung acinar adenocarcinoma semapv:UnspecifiedMatching MONDO:0003892 acinar lung adenocarcinoma skos:exactMatch MEDGEN:233130 semapv:UnspecifiedMatching MONDO:0003892 acinar lung adenocarcinoma skos:exactMatch NCIT:C5649 Lung Acinar Adenocarcinoma semapv:UnspecifiedMatching MONDO:0003892 acinar lung adenocarcinoma skos:exactMatch UMLS:C1332137 semapv:UnspecifiedMatching MONDO:0003893 rete testis adenoma skos:exactMatch DOID:6483 rete testis adenoma semapv:UnspecifiedMatching MONDO:0003893 rete testis adenoma skos:exactMatch MEDGEN:308161 semapv:UnspecifiedMatching MONDO:0003893 rete testis adenoma skos:exactMatch NCIT:C39956 Rete Testis Adenoma semapv:UnspecifiedMatching MONDO:0003893 rete testis adenoma skos:exactMatch UMLS:C1514910 semapv:UnspecifiedMatching MONDO:0003894 mediastinal melanocytic neurilemmoma skos:exactMatch DOID:6484 mediastinal melanocytic neurilemmoma semapv:UnspecifiedMatching MONDO:0003894 mediastinal melanocytic neurilemmoma skos:exactMatch MEDGEN:277352 semapv:UnspecifiedMatching MONDO:0003894 mediastinal melanocytic neurilemmoma skos:exactMatch NCIT:C6635 Mediastinal Melanotic Schwannoma semapv:UnspecifiedMatching MONDO:0003894 mediastinal melanocytic neurilemmoma skos:exactMatch UMLS:C1334668 semapv:UnspecifiedMatching MONDO:0003895 periosteal osteogenic sarcoma skos:exactMatch DOID:6489 periosteal osteogenic sarcoma semapv:UnspecifiedMatching MONDO:0003895 periosteal osteogenic sarcoma skos:exactMatch MEDGEN:234607 semapv:UnspecifiedMatching MONDO:0003895 periosteal osteogenic sarcoma skos:exactMatch NCIT:C8970 Periosteal Osteosarcoma semapv:UnspecifiedMatching MONDO:0003895 periosteal osteogenic sarcoma skos:exactMatch UMLS:C1377843 semapv:UnspecifiedMatching MONDO:0003896 breast capillary hemangioma skos:exactMatch DOID:6491 breast capillary hemangioma semapv:UnspecifiedMatching MONDO:0003896 breast capillary hemangioma skos:exactMatch MEDGEN:231963 semapv:UnspecifiedMatching MONDO:0003896 breast capillary hemangioma skos:exactMatch NCIT:C5210 Breast Capillary Hemangioma semapv:UnspecifiedMatching MONDO:0003896 breast capillary hemangioma skos:exactMatch UMLS:C1332619 semapv:UnspecifiedMatching MONDO:0003897 breast epithelioid hemangioma skos:exactMatch DOID:6492 breast epithelioid hemangioma semapv:UnspecifiedMatching MONDO:0003897 breast epithelioid hemangioma skos:exactMatch MEDGEN:231965 semapv:UnspecifiedMatching MONDO:0003897 breast epithelioid hemangioma skos:exactMatch NCIT:C5211 Breast Epithelioid Hemangioma semapv:UnspecifiedMatching MONDO:0003897 breast epithelioid hemangioma skos:exactMatch UMLS:C1332627 semapv:UnspecifiedMatching MONDO:0003898 pediatric myxoid chondrosarcoma skos:exactMatch DOID:6494 childhood myxoid chondrosarcoma semapv:UnspecifiedMatching MONDO:0003898 pediatric myxoid chondrosarcoma skos:exactMatch MEDGEN:232065 semapv:UnspecifiedMatching MONDO:0003898 pediatric myxoid chondrosarcoma skos:exactMatch NCIT:C27377 Childhood Extraskeletal Myxoid Chondrosarcoma semapv:UnspecifiedMatching MONDO:0003898 pediatric myxoid chondrosarcoma skos:exactMatch UMLS:C1332984 semapv:UnspecifiedMatching MONDO:0003899 adult myxoid chondrosarcoma skos:exactMatch MEDGEN:312875 semapv:UnspecifiedMatching MONDO:0003899 adult myxoid chondrosarcoma skos:exactMatch UMLS:C1706731 semapv:UnspecifiedMatching MONDO:0003900 connective tissue disorder skos:exactMatch DOID:65 connective tissue disease semapv:UnspecifiedMatching MONDO:0003900 connective tissue disorder skos:exactMatch EFO:1001986 semapv:UnspecifiedMatching MONDO:0003900 connective tissue disorder skos:exactMatch MEDGEN:1098 semapv:UnspecifiedMatching MONDO:0003900 connective tissue disorder skos:exactMatch NCIT:C26729 Connective Tissue Disorder semapv:UnspecifiedMatching MONDO:0003900 connective tissue disorder skos:exactMatch SCTID:105969002 semapv:UnspecifiedMatching MONDO:0003900 connective tissue disorder skos:exactMatch UMLS:C0009782 semapv:UnspecifiedMatching MONDO:0003900 connective tissue disorder skos:exactMatch mesh:D003240 semapv:UnspecifiedMatching MONDO:0003901 cerebellar hemangioblastoma skos:exactMatch DOID:6500 cerebellar angioblastoma semapv:UnspecifiedMatching MONDO:0003901 cerebellar hemangioblastoma skos:exactMatch MEDGEN:234108 semapv:UnspecifiedMatching MONDO:0003901 cerebellar hemangioblastoma skos:exactMatch NCIT:C5146 Cerebellar Hemangioblastoma semapv:UnspecifiedMatching MONDO:0003901 cerebellar hemangioblastoma skos:exactMatch UMLS:C1332900 semapv:UnspecifiedMatching MONDO:0003902 brain stem hemangioblastoma skos:exactMatch DOID:6501 brain stem angioblastoma semapv:UnspecifiedMatching MONDO:0003902 brain stem hemangioblastoma skos:exactMatch MEDGEN:231461 semapv:UnspecifiedMatching MONDO:0003902 brain stem hemangioblastoma skos:exactMatch NCIT:C5147 Brain Stem Hemangioblastoma semapv:UnspecifiedMatching MONDO:0003902 brain stem hemangioblastoma skos:exactMatch UMLS:C1332611 semapv:UnspecifiedMatching MONDO:0003903 benign vaginal mixed tumor skos:exactMatch DOID:6505 vaginal spindle cell epithelioma semapv:UnspecifiedMatching MONDO:0003903 benign vaginal mixed tumor skos:exactMatch MEDGEN:267350 semapv:UnspecifiedMatching MONDO:0003903 benign vaginal mixed tumor skos:exactMatch NCIT:C40280 Benign Vaginal Mixed Tumor semapv:UnspecifiedMatching MONDO:0003903 benign vaginal mixed tumor skos:exactMatch UMLS:C1511107 semapv:UnspecifiedMatching MONDO:0003904 lung occult squamous cell carcinoma skos:exactMatch DOID:6510 lung occult squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0003904 lung occult squamous cell carcinoma skos:exactMatch MEDGEN:235400 semapv:UnspecifiedMatching MONDO:0003904 lung occult squamous cell carcinoma skos:exactMatch NCIT:C6686 Occult Lung Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0003904 lung occult squamous cell carcinoma skos:exactMatch UMLS:C1335100 semapv:UnspecifiedMatching MONDO:0003905 ovarian yolk sac tumor, glandular pattern skos:exactMatch DOID:6511 glandular pattern ovarian yolk sac tumor semapv:UnspecifiedMatching MONDO:0003905 ovarian yolk sac tumor, glandular pattern skos:exactMatch MEDGEN:309520 semapv:UnspecifiedMatching MONDO:0003905 ovarian yolk sac tumor, glandular pattern skos:exactMatch NCIT:C39988 Ovarian Yolk Sac Tumor, Glandular Pattern semapv:UnspecifiedMatching MONDO:0003905 ovarian yolk sac tumor, glandular pattern skos:exactMatch UMLS:C1518747 semapv:UnspecifiedMatching MONDO:0003906 ovarian yolk sac tumor, hepatoid pattern skos:exactMatch DOID:6512 hepatoid pattern ovarian yolk sac tumor semapv:UnspecifiedMatching MONDO:0003906 ovarian yolk sac tumor, hepatoid pattern skos:exactMatch MEDGEN:276676 semapv:UnspecifiedMatching MONDO:0003906 ovarian yolk sac tumor, hepatoid pattern skos:exactMatch NCIT:C39989 Ovarian Yolk Sac Tumor, Hepatoid Pattern semapv:UnspecifiedMatching MONDO:0003906 ovarian yolk sac tumor, hepatoid pattern skos:exactMatch UMLS:C1518748 semapv:UnspecifiedMatching MONDO:0003907 ovarian yolk sac tumor, polyvesicular vitelline pattern skos:exactMatch DOID:6514 polyvesicular vitelline pattern ovarian yolk sac tumor semapv:UnspecifiedMatching MONDO:0003907 ovarian yolk sac tumor, polyvesicular vitelline pattern skos:exactMatch MEDGEN:309521 semapv:UnspecifiedMatching MONDO:0003907 ovarian yolk sac tumor, polyvesicular vitelline pattern skos:exactMatch NCIT:C39987 Ovarian Yolk Sac Tumor, Polyvesicular Vitelline Pattern semapv:UnspecifiedMatching MONDO:0003907 ovarian yolk sac tumor, polyvesicular vitelline pattern skos:exactMatch UMLS:C1518749 semapv:UnspecifiedMatching MONDO:0003908 clivus meningioma skos:exactMatch DOID:6517 clivus meningioma semapv:UnspecifiedMatching MONDO:0003908 clivus meningioma skos:exactMatch MEDGEN:272489 semapv:UnspecifiedMatching MONDO:0003908 clivus meningioma skos:exactMatch NCIT:C5289 Clivus Meningioma semapv:UnspecifiedMatching MONDO:0003908 clivus meningioma skos:exactMatch UMLS:C1333073 semapv:UnspecifiedMatching MONDO:0003909 Bartholin gland adenomyoma skos:exactMatch DOID:6518 Bartholin's gland adenomyoma semapv:UnspecifiedMatching MONDO:0003909 Bartholin gland adenomyoma skos:exactMatch MEDGEN:307248 semapv:UnspecifiedMatching MONDO:0003909 Bartholin gland adenomyoma skos:exactMatch NCIT:C40300 Bartholin Gland Adenomyoma semapv:UnspecifiedMatching MONDO:0003909 Bartholin gland adenomyoma skos:exactMatch UMLS:C1511049 semapv:UnspecifiedMatching MONDO:0003910 mixed cell uveal melanoma skos:exactMatch DOID:6522 mixed cell uveal melanoma semapv:UnspecifiedMatching MONDO:0003910 mixed cell uveal melanoma skos:exactMatch EFO:1000380 semapv:UnspecifiedMatching MONDO:0003910 mixed cell uveal melanoma skos:exactMatch MEDGEN:235330 semapv:UnspecifiedMatching MONDO:0003910 mixed cell uveal melanoma skos:exactMatch NCIT:C35781 Uveal Mixed Epithelioid and Spindle Cell Melanoma semapv:UnspecifiedMatching MONDO:0003910 mixed cell uveal melanoma skos:exactMatch UMLS:C1334782 semapv:UnspecifiedMatching MONDO:0003911 ciliary body mixed cell melanoma skos:exactMatch DOID:6523 ciliary body mixed cell melanoma semapv:UnspecifiedMatching MONDO:0003911 ciliary body mixed cell melanoma skos:exactMatch MEDGEN:234150 semapv:UnspecifiedMatching MONDO:0003911 ciliary body mixed cell melanoma skos:exactMatch NCIT:C35783 Ciliary Body Mixed Epithelioid and Spindle Cell Melanoma semapv:UnspecifiedMatching MONDO:0003911 ciliary body mixed cell melanoma skos:exactMatch UMLS:C1333051 semapv:UnspecifiedMatching MONDO:0003912 malignant ciliary body melanoma skos:exactMatch DOID:6524 malignant ciliary body melanoma semapv:UnspecifiedMatching MONDO:0003912 malignant ciliary body melanoma skos:exactMatch MEDGEN:138062 semapv:UnspecifiedMatching MONDO:0003912 malignant ciliary body melanoma skos:exactMatch NCIT:C4558 Ciliary Body Melanoma semapv:UnspecifiedMatching MONDO:0003912 malignant ciliary body melanoma skos:exactMatch SCTID:255015006 semapv:UnspecifiedMatching MONDO:0003912 malignant ciliary body melanoma skos:exactMatch UMLS:C0346379 semapv:UnspecifiedMatching MONDO:0003913 choroid mixed cell melanoma skos:exactMatch DOID:6525 choroid mixed cell melanoma semapv:UnspecifiedMatching MONDO:0003913 choroid mixed cell melanoma skos:exactMatch MEDGEN:232361 semapv:UnspecifiedMatching MONDO:0003913 choroid mixed cell melanoma skos:exactMatch NCIT:C35782 Choroid Mixed Epithelioid and Spindle Cell Melanoma semapv:UnspecifiedMatching MONDO:0003913 choroid mixed cell melanoma skos:exactMatch UMLS:C1333025 semapv:UnspecifiedMatching MONDO:0003915 cortical thymoma skos:exactMatch DOID:6530 thymoma type B2 semapv:UnspecifiedMatching MONDO:0003915 cortical thymoma skos:exactMatch MEDGEN:224762 semapv:UnspecifiedMatching MONDO:0003915 cortical thymoma skos:exactMatch NCIT:C6888 Thymoma Type B2 semapv:UnspecifiedMatching MONDO:0003915 cortical thymoma skos:exactMatch UMLS:C1266095 semapv:UnspecifiedMatching MONDO:0003916 overnutrition skos:exactMatch DOID:654 overnutrition semapv:UnspecifiedMatching MONDO:0003916 overnutrition skos:exactMatch MEDGEN:219760 semapv:UnspecifiedMatching MONDO:0003916 overnutrition skos:exactMatch SCTID:302872003 semapv:UnspecifiedMatching MONDO:0003916 overnutrition skos:exactMatch UMLS:C1257763 semapv:UnspecifiedMatching MONDO:0003916 overnutrition skos:exactMatch mesh:D044343 semapv:UnspecifiedMatching MONDO:0003917 heart lymphoma skos:exactMatch DOID:6547 heart lymphoma semapv:UnspecifiedMatching MONDO:0003917 heart lymphoma skos:exactMatch MEDGEN:232331 semapv:UnspecifiedMatching MONDO:0003917 heart lymphoma skos:exactMatch NCIT:C5368 Cardiac Lymphoma semapv:UnspecifiedMatching MONDO:0003917 heart lymphoma skos:exactMatch UMLS:C1332850 semapv:UnspecifiedMatching MONDO:0003918 angiomatous meningioma skos:exactMatch DOID:6548 angiomatous meningioma semapv:UnspecifiedMatching MONDO:0003918 angiomatous meningioma skos:exactMatch MEDGEN:87274 semapv:UnspecifiedMatching MONDO:0003918 angiomatous meningioma skos:exactMatch NCIT:C4332 Angiomatous Meningioma semapv:UnspecifiedMatching MONDO:0003918 angiomatous meningioma skos:exactMatch UMLS:C0334608 semapv:UnspecifiedMatching MONDO:0003921 posterior foramen magnum meningioma skos:exactMatch DOID:6553 posterior foramen magnum meningioma semapv:UnspecifiedMatching MONDO:0003921 posterior foramen magnum meningioma skos:exactMatch MEDGEN:235488 semapv:UnspecifiedMatching MONDO:0003921 posterior foramen magnum meningioma skos:exactMatch NCIT:C5282 Posterior Foramen Magnum Meningioma semapv:UnspecifiedMatching MONDO:0003921 posterior foramen magnum meningioma skos:exactMatch UMLS:C1335449 semapv:UnspecifiedMatching MONDO:0003922 ovarian clear cell malignant adenofibroma skos:exactMatch DOID:6554 ovarian clear cell malignant adenofibroma semapv:UnspecifiedMatching MONDO:0003922 ovarian clear cell malignant adenofibroma skos:exactMatch MEDGEN:384483 semapv:UnspecifiedMatching MONDO:0003922 ovarian clear cell malignant adenofibroma skos:exactMatch NCIT:C40079 Ovarian Clear Cell Adenocarcinofibroma semapv:UnspecifiedMatching MONDO:0003922 ovarian clear cell malignant adenofibroma skos:exactMatch UMLS:C2075522 semapv:UnspecifiedMatching MONDO:0003923 ethmoid sinus Schneiderian papilloma skos:exactMatch DOID:6559 ethmoid sinus Schneiderian papilloma semapv:UnspecifiedMatching MONDO:0003923 ethmoid sinus Schneiderian papilloma skos:exactMatch MEDGEN:232474 semapv:UnspecifiedMatching MONDO:0003923 ethmoid sinus Schneiderian papilloma skos:exactMatch NCIT:C6836 Ethmoid Sinus Papilloma semapv:UnspecifiedMatching MONDO:0003923 ethmoid sinus Schneiderian papilloma skos:exactMatch UMLS:C1333476 semapv:UnspecifiedMatching MONDO:0003924 adrenal cortex adenoma skos:exactMatch DOID:0050891 adrenal cortical adenoma semapv:UnspecifiedMatching MONDO:0003924 adrenal cortex adenoma skos:exactMatch DOID:656 adrenal adenoma semapv:UnspecifiedMatching MONDO:0003924 adrenal cortex adenoma skos:exactMatch EFO:0003104 semapv:UnspecifiedMatching MONDO:0003924 adrenal cortex adenoma skos:exactMatch MEDGEN:61654 semapv:UnspecifiedMatching MONDO:0003924 adrenal cortex adenoma skos:exactMatch NCIT:C9003 Adrenal Cortical Adenoma semapv:UnspecifiedMatching MONDO:0003924 adrenal cortex adenoma skos:exactMatch SCTID:302826002 semapv:UnspecifiedMatching MONDO:0003924 adrenal cortex adenoma skos:exactMatch UMLS:C0206667 semapv:UnspecifiedMatching MONDO:0003924 adrenal cortex adenoma skos:exactMatch mesh:D018246 semapv:UnspecifiedMatching MONDO:0003925 ethmoid sinus inverted papilloma skos:exactMatch DOID:6562 ethmoid sinus inverted papilloma semapv:UnspecifiedMatching MONDO:0003925 ethmoid sinus inverted papilloma skos:exactMatch MEDGEN:232472 semapv:UnspecifiedMatching MONDO:0003925 ethmoid sinus inverted papilloma skos:exactMatch NCIT:C6843 Ethmoid Sinus Inverted Papilloma semapv:UnspecifiedMatching MONDO:0003925 ethmoid sinus inverted papilloma skos:exactMatch UMLS:C1333474 semapv:UnspecifiedMatching MONDO:0003926 neurilemmoma of the pleura skos:exactMatch DOID:6564 neurilemmoma of the pleura semapv:UnspecifiedMatching MONDO:0003926 neurilemmoma of the pleura skos:exactMatch MEDGEN:233863 semapv:UnspecifiedMatching MONDO:0003926 neurilemmoma of the pleura skos:exactMatch NCIT:C5418 Pleural Schwannoma semapv:UnspecifiedMatching MONDO:0003926 neurilemmoma of the pleura skos:exactMatch UMLS:C1335435 semapv:UnspecifiedMatching MONDO:0003927 posterior uveal melanoma skos:exactMatch DOID:6566 posterior uveal melanoma semapv:UnspecifiedMatching MONDO:0003928 uterine corpus myxoid leiomyosarcoma skos:exactMatch DOID:6567 uterine corpus myxoid leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003928 uterine corpus myxoid leiomyosarcoma skos:exactMatch MEDGEN:311426 semapv:UnspecifiedMatching MONDO:0003928 uterine corpus myxoid leiomyosarcoma skos:exactMatch NCIT:C40175 Uterine Corpus Myxoid Leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003928 uterine corpus myxoid leiomyosarcoma skos:exactMatch UMLS:C1519861 semapv:UnspecifiedMatching MONDO:0003929 vestibular micropapillomatosis skos:exactMatch DOID:6569 micropapillomatosis labialis semapv:UnspecifiedMatching MONDO:0003929 vestibular micropapillomatosis skos:exactMatch MEDGEN:275589 semapv:UnspecifiedMatching MONDO:0003929 vestibular micropapillomatosis skos:exactMatch NCIT:C40290 Vulvar Squamous Papillomatosis semapv:UnspecifiedMatching MONDO:0003929 vestibular micropapillomatosis skos:exactMatch UMLS:C1519982 semapv:UnspecifiedMatching MONDO:0003930 non-invasive bladder urothelial carcinoma skos:exactMatch DOID:6571 non-invasive bladder urothelial carcinoma semapv:UnspecifiedMatching MONDO:0003930 non-invasive bladder urothelial carcinoma skos:exactMatch MEDGEN:233466 semapv:UnspecifiedMatching MONDO:0003930 non-invasive bladder urothelial carcinoma skos:exactMatch NCIT:C6188 Stage 0 Bladder Urothelial Carcinoma AJCC v6 and v7 semapv:UnspecifiedMatching MONDO:0003930 non-invasive bladder urothelial carcinoma skos:exactMatch UMLS:C1336089 semapv:UnspecifiedMatching MONDO:0003931 childhood optic tract astrocytoma skos:exactMatch DOID:6575 childhood optic tract astrocytoma semapv:UnspecifiedMatching MONDO:0003931 childhood optic tract astrocytoma skos:exactMatch MEDGEN:232072 semapv:UnspecifiedMatching MONDO:0003931 childhood optic tract astrocytoma skos:exactMatch NCIT:C7534 Childhood Visual Pathway Astrocytoma semapv:UnspecifiedMatching MONDO:0003931 childhood optic tract astrocytoma skos:exactMatch UMLS:C1333014 semapv:UnspecifiedMatching MONDO:0003932 childhood optic nerve glioma skos:exactMatch DOID:6576 childhood optic nerve glioma semapv:UnspecifiedMatching MONDO:0003932 childhood optic nerve glioma skos:exactMatch MEDGEN:124487 semapv:UnspecifiedMatching MONDO:0003932 childhood optic nerve glioma skos:exactMatch NCIT:C7535 Childhood Visual Pathway Glioma semapv:UnspecifiedMatching MONDO:0003932 childhood optic nerve glioma skos:exactMatch UMLS:C0278653 semapv:UnspecifiedMatching MONDO:0003933 chest wall bone cancer skos:exactMatch DOID:6579 chest wall bone cancer semapv:UnspecifiedMatching MONDO:0003933 chest wall bone cancer skos:exactMatch MEDGEN:233148 semapv:UnspecifiedMatching MONDO:0003933 chest wall bone cancer skos:exactMatch NCIT:C6724 Malignant Chest Wall Bone Neoplasm semapv:UnspecifiedMatching MONDO:0003933 chest wall bone cancer skos:exactMatch UMLS:C1334572 semapv:UnspecifiedMatching MONDO:0003934 breast apocrine carcinoma skos:exactMatch DOID:6581 breast apocrine carcinoma semapv:UnspecifiedMatching MONDO:0003934 breast apocrine carcinoma skos:exactMatch MEDGEN:272319 semapv:UnspecifiedMatching MONDO:0003934 breast apocrine carcinoma skos:exactMatch NCIT:C5141 Breast Apocrine Carcinoma semapv:UnspecifiedMatching MONDO:0003934 breast apocrine carcinoma skos:exactMatch UMLS:C1332316 semapv:UnspecifiedMatching MONDO:0003935 oncocytic breast carcinoma skos:exactMatch DOID:6585 breast oncocytic carcinoma semapv:UnspecifiedMatching MONDO:0003935 oncocytic breast carcinoma skos:exactMatch MEDGEN:309476 semapv:UnspecifiedMatching MONDO:0003935 oncocytic breast carcinoma skos:exactMatch NCIT:C40366 Breast Oncocytic Carcinoma semapv:UnspecifiedMatching MONDO:0003935 oncocytic breast carcinoma skos:exactMatch UMLS:C1518574 semapv:UnspecifiedMatching MONDO:0003936 invasive tubular breast carcinoma skos:exactMatch DOID:6587 breast tubular carcinoma semapv:UnspecifiedMatching MONDO:0003936 invasive tubular breast carcinoma skos:exactMatch MEDGEN:230969 semapv:UnspecifiedMatching MONDO:0003936 invasive tubular breast carcinoma skos:exactMatch NCIT:C9135 Breast Tubular Carcinoma semapv:UnspecifiedMatching MONDO:0003936 invasive tubular breast carcinoma skos:exactMatch UMLS:C1328544 semapv:UnspecifiedMatching MONDO:0003937 spondylitis skos:exactMatch DOID:6590 spondylitis semapv:UnspecifiedMatching MONDO:0003937 spondylitis skos:exactMatch MEDGEN:11560 semapv:UnspecifiedMatching MONDO:0003937 spondylitis skos:exactMatch SCTID:84172003 semapv:UnspecifiedMatching MONDO:0003937 spondylitis skos:exactMatch UMLS:C0038012 semapv:UnspecifiedMatching MONDO:0003937 spondylitis skos:exactMatch mesh:D013166 semapv:UnspecifiedMatching MONDO:0003938 bladder colonic type adenocarcinoma skos:exactMatch DOID:6594 bladder colonic type adenocarcinoma semapv:UnspecifiedMatching MONDO:0003938 bladder colonic type adenocarcinoma skos:exactMatch MEDGEN:267371 semapv:UnspecifiedMatching MONDO:0003938 bladder colonic type adenocarcinoma skos:exactMatch NCIT:C39835 Bladder Enteric Type Adenocarcinoma semapv:UnspecifiedMatching MONDO:0003938 bladder colonic type adenocarcinoma skos:exactMatch UMLS:C1511188 semapv:UnspecifiedMatching MONDO:0003939 muscle tissue disorder skos:exactMatch DOID:0080000 muscular disease semapv:UnspecifiedMatching MONDO:0003939 muscle tissue disorder skos:exactMatch DOID:66 muscle tissue disease semapv:UnspecifiedMatching MONDO:0003939 muscle tissue disorder skos:exactMatch ICD10CM:M60-M63 Disorders of muscles (M60-M63) semapv:UnspecifiedMatching MONDO:0003939 muscle tissue disorder skos:exactMatch mesh:D009135 semapv:UnspecifiedMatching MONDO:0003940 Kummell disease skos:exactMatch DOID:6603 Kummell's disease semapv:UnspecifiedMatching MONDO:0003940 Kummell disease skos:exactMatch ICD10CM:M48.3 Traumatic spondylopathy semapv:UnspecifiedMatching MONDO:0003940 Kummell disease skos:exactMatch MEDGEN:508880 semapv:UnspecifiedMatching MONDO:0003940 Kummell disease skos:exactMatch SCTID:111232005 semapv:UnspecifiedMatching MONDO:0003940 Kummell disease skos:exactMatch UMLS:C0152088 semapv:UnspecifiedMatching MONDO:0003941 classic variant of chromophobe renal cell carcinoma skos:exactMatch DOID:6605 classic variant of chromophobe renal cell carcinoma semapv:UnspecifiedMatching MONDO:0003941 classic variant of chromophobe renal cell carcinoma skos:exactMatch MEDGEN:232080 semapv:UnspecifiedMatching MONDO:0003941 classic variant of chromophobe renal cell carcinoma skos:exactMatch NCIT:C27888 Classic Variant of Chromophobe Renal Cell Carcinoma semapv:UnspecifiedMatching MONDO:0003941 classic variant of chromophobe renal cell carcinoma skos:exactMatch UMLS:C1333062 semapv:UnspecifiedMatching MONDO:0003942 eosinophilic variant of chromophobe renal cell carcinoma skos:exactMatch DOID:6606 eosinophilic variant of chromophobe renal cell carcinoma semapv:UnspecifiedMatching MONDO:0003942 eosinophilic variant of chromophobe renal cell carcinoma skos:exactMatch MEDGEN:232458 semapv:UnspecifiedMatching MONDO:0003942 eosinophilic variant of chromophobe renal cell carcinoma skos:exactMatch NCIT:C27889 Eosinophilic Variant of Chromophobe Renal Cell Carcinoma semapv:UnspecifiedMatching MONDO:0003942 eosinophilic variant of chromophobe renal cell carcinoma skos:exactMatch UMLS:C1333405 semapv:UnspecifiedMatching MONDO:0003943 central nervous system hibernoma skos:exactMatch DOID:6607 nervous system hibernoma semapv:UnspecifiedMatching MONDO:0003943 central nervous system hibernoma skos:exactMatch MEDGEN:317749 semapv:UnspecifiedMatching MONDO:0003943 central nervous system hibernoma skos:exactMatch NCIT:C6997 Central Nervous System Hibernoma semapv:UnspecifiedMatching MONDO:0003943 central nervous system hibernoma skos:exactMatch UMLS:C1708362 semapv:UnspecifiedMatching MONDO:0003944 endobronchial leiomyoma skos:exactMatch DOID:6608 endobronchial leiomyoma semapv:UnspecifiedMatching MONDO:0003944 endobronchial leiomyoma skos:exactMatch MEDGEN:232455 semapv:UnspecifiedMatching MONDO:0003944 endobronchial leiomyoma skos:exactMatch NCIT:C5661 Endobronchial Leiomyoma semapv:UnspecifiedMatching MONDO:0003944 endobronchial leiomyoma skos:exactMatch UMLS:C1333386 semapv:UnspecifiedMatching MONDO:0003945 bone epithelioid hemangioma skos:exactMatch DOID:6610 bone epithelioid hemangioma semapv:UnspecifiedMatching MONDO:0003945 bone epithelioid hemangioma skos:exactMatch MEDGEN:231951 semapv:UnspecifiedMatching MONDO:0003945 bone epithelioid hemangioma skos:exactMatch NCIT:C5396 Bone Epithelioid Hemangioma semapv:UnspecifiedMatching MONDO:0003945 bone epithelioid hemangioma skos:exactMatch UMLS:C1332575 semapv:UnspecifiedMatching MONDO:0003946 vaginal villous adenoma skos:exactMatch DOID:6613 vaginal villous adenoma semapv:UnspecifiedMatching MONDO:0003946 vaginal villous adenoma skos:exactMatch MEDGEN:275577 semapv:UnspecifiedMatching MONDO:0003946 vaginal villous adenoma skos:exactMatch NCIT:C40259 Vaginal Villous Adenoma semapv:UnspecifiedMatching MONDO:0003946 vaginal villous adenoma skos:exactMatch UMLS:C1519936 semapv:UnspecifiedMatching MONDO:0003947 hyper-IgM syndrome skos:exactMatch DOID:0080544 hyper IgM syndrome semapv:UnspecifiedMatching MONDO:0003947 hyper-IgM syndrome skos:exactMatch MEDGEN:124420 semapv:UnspecifiedMatching MONDO:0003947 hyper-IgM syndrome skos:exactMatch NCIT:C3990 Hyperimmunoglobulin M Syndrome semapv:UnspecifiedMatching MONDO:0003947 hyper-IgM syndrome skos:exactMatch NCIT:C84783 Immunodeficiency with Hyper-IgM semapv:UnspecifiedMatching MONDO:0003947 hyper-IgM syndrome skos:exactMatch OMIMPS:308230 Immunodeficiency with hyper-IgM semapv:UnspecifiedMatching MONDO:0003947 hyper-IgM syndrome skos:exactMatch SCTID:82286005 semapv:UnspecifiedMatching MONDO:0003947 hyper-IgM syndrome skos:exactMatch UMLS:C0272236 semapv:UnspecifiedMatching MONDO:0003947 hyper-IgM syndrome skos:exactMatch mesh:D053306 semapv:UnspecifiedMatching MONDO:0003948 cerebral hemangioma skos:exactMatch DOID:6621 cerebral angioma semapv:UnspecifiedMatching MONDO:0003948 cerebral hemangioma skos:exactMatch MEDGEN:164084 semapv:UnspecifiedMatching MONDO:0003948 cerebral hemangioma skos:exactMatch NCIT:C5433 Cerebral Hemangioma semapv:UnspecifiedMatching MONDO:0003948 cerebral hemangioma skos:exactMatch UMLS:C0877388 semapv:UnspecifiedMatching MONDO:0003950 nipple carcinoma skos:exactMatch DOID:6629 nipple carcinoma semapv:UnspecifiedMatching MONDO:0003950 nipple carcinoma skos:exactMatch MEDGEN:233756 semapv:UnspecifiedMatching MONDO:0003950 nipple carcinoma skos:exactMatch NCIT:C28432 Nipple Carcinoma semapv:UnspecifiedMatching MONDO:0003950 nipple carcinoma skos:exactMatch UMLS:C1334966 semapv:UnspecifiedMatching MONDO:0003951 scrotal hemangioma skos:exactMatch DOID:663 scrotal angioma semapv:UnspecifiedMatching MONDO:0003951 scrotal hemangioma skos:exactMatch MEDGEN:235583 semapv:UnspecifiedMatching MONDO:0003951 scrotal hemangioma skos:exactMatch NCIT:C6387 Scrotal Hemangioma semapv:UnspecifiedMatching MONDO:0003951 scrotal hemangioma skos:exactMatch UMLS:C1335936 semapv:UnspecifiedMatching MONDO:0003952 adult central nervous system choriocarcinoma skos:exactMatch DOID:6634 adult central nervous system choriocarcinoma semapv:UnspecifiedMatching MONDO:0003952 adult central nervous system choriocarcinoma skos:exactMatch MEDGEN:234582 semapv:UnspecifiedMatching MONDO:0003952 adult central nervous system choriocarcinoma skos:exactMatch NCIT:C5793 Adult Central Nervous System Choriocarcinoma semapv:UnspecifiedMatching MONDO:0003952 adult central nervous system choriocarcinoma skos:exactMatch UMLS:C1370505 semapv:UnspecifiedMatching MONDO:0003953 pediatric CNS choriocarcinoma skos:exactMatch DOID:6639 childhood CNS choriocarcinoma semapv:UnspecifiedMatching MONDO:0003953 pediatric CNS choriocarcinoma skos:exactMatch MEDGEN:234603 semapv:UnspecifiedMatching MONDO:0003953 pediatric CNS choriocarcinoma skos:exactMatch NCIT:C6206 Childhood Central Nervous System Choriocarcinoma semapv:UnspecifiedMatching MONDO:0003953 pediatric CNS choriocarcinoma skos:exactMatch UMLS:C1377604 semapv:UnspecifiedMatching MONDO:0003954 angiokeratoma of Fordyce skos:exactMatch DOID:664 angiokeratoma of Fordyce semapv:UnspecifiedMatching MONDO:0003954 angiokeratoma of Fordyce skos:exactMatch MEDGEN:75529 semapv:UnspecifiedMatching MONDO:0003954 angiokeratoma of Fordyce skos:exactMatch SCTID:6331000 semapv:UnspecifiedMatching MONDO:0003954 angiokeratoma of Fordyce skos:exactMatch UMLS:C0263639 semapv:UnspecifiedMatching MONDO:0003954 angiokeratoma of Fordyce skos:exactMatch icd11.foundation:410953318 Angiokeratoma of Fordyce semapv:UnspecifiedMatching MONDO:0003955 juvenile breast papillomatosis skos:exactMatch DOID:6641 breast juvenile papillomatosis semapv:UnspecifiedMatching MONDO:0003955 juvenile breast papillomatosis skos:exactMatch MEDGEN:233588 semapv:UnspecifiedMatching MONDO:0003955 juvenile breast papillomatosis skos:exactMatch NCIT:C9503 Juvenile Breast Papillomatosis semapv:UnspecifiedMatching MONDO:0003955 juvenile breast papillomatosis skos:exactMatch SCTID:708518001 semapv:UnspecifiedMatching MONDO:0003955 juvenile breast papillomatosis skos:exactMatch UMLS:C1334303 semapv:UnspecifiedMatching MONDO:0003956 Baastrup syndrome skos:exactMatch DOID:6643 Baastrup's syndrome semapv:UnspecifiedMatching MONDO:0003956 Baastrup syndrome skos:exactMatch ICD10CM:M48.2 Kissing spine semapv:UnspecifiedMatching MONDO:0003956 Baastrup syndrome skos:exactMatch MEDGEN:510482 semapv:UnspecifiedMatching MONDO:0003956 Baastrup syndrome skos:exactMatch SCTID:82304009 semapv:UnspecifiedMatching MONDO:0003956 Baastrup syndrome skos:exactMatch UMLS:C0158248 semapv:UnspecifiedMatching MONDO:0003957 adult pineoblastoma skos:exactMatch DOID:6648 adult pineoblastoma semapv:UnspecifiedMatching MONDO:0003957 adult pineoblastoma skos:exactMatch MEDGEN:83794 semapv:UnspecifiedMatching MONDO:0003957 adult pineoblastoma skos:exactMatch NCIT:C8292 Adult Pineoblastoma semapv:UnspecifiedMatching MONDO:0003957 adult pineoblastoma skos:exactMatch UMLS:C0281332 semapv:UnspecifiedMatching MONDO:0003958 childhood central nervous system immature teratoma skos:exactMatch DOID:6654 childhood central nervous system immature teratoma semapv:UnspecifiedMatching MONDO:0003958 childhood central nervous system immature teratoma skos:exactMatch MEDGEN:232344 semapv:UnspecifiedMatching MONDO:0003958 childhood central nervous system immature teratoma skos:exactMatch NCIT:C27405 Childhood Central Nervous System Immature Teratoma semapv:UnspecifiedMatching MONDO:0003958 childhood central nervous system immature teratoma skos:exactMatch UMLS:C1332954 semapv:UnspecifiedMatching MONDO:0003959 breast large cell neuroendocrine carcinoma skos:exactMatch DOID:6657 breast large cell neuroendocrine carcinoma semapv:UnspecifiedMatching MONDO:0003959 breast large cell neuroendocrine carcinoma skos:exactMatch MEDGEN:307310 semapv:UnspecifiedMatching MONDO:0003959 breast large cell neuroendocrine carcinoma skos:exactMatch NCIT:C40356 Breast Large Cell Neuroendocrine Carcinoma semapv:UnspecifiedMatching MONDO:0003959 breast large cell neuroendocrine carcinoma skos:exactMatch UMLS:C1511316 semapv:UnspecifiedMatching MONDO:0003960 pulmonary large cell neuroendocrine carcinoma skos:exactMatch DOID:6658 pulmonary large cell neuroendocrine carcinoma semapv:UnspecifiedMatching MONDO:0003960 pulmonary large cell neuroendocrine carcinoma skos:exactMatch MEDGEN:233608 semapv:UnspecifiedMatching MONDO:0003960 pulmonary large cell neuroendocrine carcinoma skos:exactMatch NCIT:C5672 Lung Large Cell Neuroendocrine Carcinoma semapv:UnspecifiedMatching MONDO:0003960 pulmonary large cell neuroendocrine carcinoma skos:exactMatch UMLS:C1334363 semapv:UnspecifiedMatching MONDO:0003962 Froelich syndrome skos:exactMatch DOID:6676 Froelich syndrome semapv:UnspecifiedMatching MONDO:0003962 Froelich syndrome skos:exactMatch MEDGEN:4795 semapv:UnspecifiedMatching MONDO:0003962 Froelich syndrome skos:exactMatch NCIT:C34625 Frohlich Syndrome semapv:UnspecifiedMatching MONDO:0003962 Froelich syndrome skos:exactMatch SCTID:62999006 semapv:UnspecifiedMatching MONDO:0003962 Froelich syndrome skos:exactMatch UMLS:C0016724 semapv:UnspecifiedMatching MONDO:0003963 diffuse infiltrative lymphocytosis syndrome skos:exactMatch DOID:6677 diffuse infiltrative lymphocytosis syndrome semapv:UnspecifiedMatching MONDO:0003963 diffuse infiltrative lymphocytosis syndrome skos:exactMatch MEDGEN:232428 semapv:UnspecifiedMatching MONDO:0003963 diffuse infiltrative lymphocytosis syndrome skos:exactMatch NCIT:C35699 Diffuse Infiltrative Lymphocytosis Syndrome semapv:UnspecifiedMatching MONDO:0003963 diffuse infiltrative lymphocytosis syndrome skos:exactMatch SCTID:449784008 semapv:UnspecifiedMatching MONDO:0003963 diffuse infiltrative lymphocytosis syndrome skos:exactMatch UMLS:C1333292 semapv:UnspecifiedMatching MONDO:0003964 myositis ossificans skos:exactMatch DOID:668 myositis ossificans semapv:UnspecifiedMatching MONDO:0003964 myositis ossificans skos:exactMatch MEDGEN:6503 semapv:UnspecifiedMatching MONDO:0003964 myositis ossificans skos:exactMatch NCIT:C3253 Myositis Ossificans semapv:UnspecifiedMatching MONDO:0003964 myositis ossificans skos:exactMatch UMLS:C0027122 semapv:UnspecifiedMatching MONDO:0003964 myositis ossificans skos:exactMatch icd11.foundation:635062595 Myositis ossificans semapv:UnspecifiedMatching MONDO:0003964 myositis ossificans skos:exactMatch mesh:D009221 semapv:UnspecifiedMatching MONDO:0003965 Capgras syndrome skos:exactMatch DOID:6680 Capgras syndrome semapv:UnspecifiedMatching MONDO:0003965 Capgras syndrome skos:exactMatch MEDGEN:2811 semapv:UnspecifiedMatching MONDO:0003965 Capgras syndrome skos:exactMatch NCIT:C34446 Capgras Syndrome semapv:UnspecifiedMatching MONDO:0003965 Capgras syndrome skos:exactMatch UMLS:C0006895 semapv:UnspecifiedMatching MONDO:0003965 Capgras syndrome skos:exactMatch mesh:D002194 semapv:UnspecifiedMatching MONDO:0003966 testicular monophasic choriocarcinoma skos:exactMatch DOID:6693 testicular monophasic choriocarcinoma semapv:UnspecifiedMatching MONDO:0003966 testicular monophasic choriocarcinoma skos:exactMatch MEDGEN:272841 semapv:UnspecifiedMatching MONDO:0003966 testicular monophasic choriocarcinoma skos:exactMatch NCIT:C39935 Testicular Monophasic Choriocarcinoma semapv:UnspecifiedMatching MONDO:0003966 testicular monophasic choriocarcinoma skos:exactMatch UMLS:C1515290 semapv:UnspecifiedMatching MONDO:0003967 synchronous multifocal osteogenic sarcoma skos:exactMatch DOID:6696 synchronous multifocal osteogenic sarcoma semapv:UnspecifiedMatching MONDO:0003967 synchronous multifocal osteogenic sarcoma skos:exactMatch MEDGEN:236965 semapv:UnspecifiedMatching MONDO:0003967 synchronous multifocal osteogenic sarcoma skos:exactMatch NCIT:C6471 Synchronous Multifocal Osteosarcoma semapv:UnspecifiedMatching MONDO:0003967 synchronous multifocal osteogenic sarcoma skos:exactMatch UMLS:C1336544 semapv:UnspecifiedMatching MONDO:0003968 asynchronous multifocal osteogenic sarcoma skos:exactMatch DOID:6697 asynchronous multifocal osteogenic sarcoma semapv:UnspecifiedMatching MONDO:0003968 asynchronous multifocal osteogenic sarcoma skos:exactMatch MEDGEN:231083 semapv:UnspecifiedMatching MONDO:0003968 asynchronous multifocal osteogenic sarcoma skos:exactMatch NCIT:C6472 Asynchronous Multifocal Osteosarcoma semapv:UnspecifiedMatching MONDO:0003968 asynchronous multifocal osteogenic sarcoma skos:exactMatch UMLS:C1332342 semapv:UnspecifiedMatching MONDO:0003969 amphetamine abuse skos:exactMatch DOID:670 amphetamine abuse semapv:UnspecifiedMatching MONDO:0003969 amphetamine abuse skos:exactMatch MEDGEN:66744 semapv:UnspecifiedMatching MONDO:0003969 amphetamine abuse skos:exactMatch SCTID:84758004 semapv:UnspecifiedMatching MONDO:0003969 amphetamine abuse skos:exactMatch UMLS:C0236807 semapv:UnspecifiedMatching MONDO:0003969 amphetamine abuse skos:exactMatch icd11.foundation:879494155 Amphetamine abuse semapv:UnspecifiedMatching MONDO:0003969 amphetamine abuse skos:exactMatch mesh:D019969 semapv:UnspecifiedMatching MONDO:0003970 gastric fundus carcinoma skos:exactMatch DOID:6700 gastric fundus carcinoma semapv:UnspecifiedMatching MONDO:0003970 gastric fundus carcinoma skos:exactMatch MEDGEN:87514 semapv:UnspecifiedMatching MONDO:0003970 gastric fundus carcinoma skos:exactMatch NCIT:C8398 Gastric Fundus Carcinoma semapv:UnspecifiedMatching MONDO:0003970 gastric fundus carcinoma skos:exactMatch SCTID:254555008 semapv:UnspecifiedMatching MONDO:0003970 gastric fundus carcinoma skos:exactMatch UMLS:C0345799 semapv:UnspecifiedMatching MONDO:0003970 gastric fundus carcinoma skos:exactMatch icd11.foundation:1208359113 Carcinoma of fundus of stomach semapv:UnspecifiedMatching MONDO:0003971 gastric pylorus carcinoma skos:exactMatch DOID:6703 gastric pylorus carcinoma semapv:UnspecifiedMatching MONDO:0003971 gastric pylorus carcinoma skos:exactMatch MEDGEN:234301 semapv:UnspecifiedMatching MONDO:0003971 gastric pylorus carcinoma skos:exactMatch NCIT:C6795 Gastric Pylorus Carcinoma semapv:UnspecifiedMatching MONDO:0003971 gastric pylorus carcinoma skos:exactMatch UMLS:C1333787 semapv:UnspecifiedMatching MONDO:0003972 gastric body carcinoma skos:exactMatch DOID:6705 gastric body carcinoma semapv:UnspecifiedMatching MONDO:0003972 gastric body carcinoma skos:exactMatch MEDGEN:87515 semapv:UnspecifiedMatching MONDO:0003972 gastric body carcinoma skos:exactMatch NCIT:C8399 Gastric Body Carcinoma semapv:UnspecifiedMatching MONDO:0003972 gastric body carcinoma skos:exactMatch SCTID:254557000 semapv:UnspecifiedMatching MONDO:0003972 gastric body carcinoma skos:exactMatch UMLS:C0345804 semapv:UnspecifiedMatching MONDO:0003973 tubular variant testicular seminoma skos:exactMatch DOID:6706 tubular variant testicular seminoma semapv:UnspecifiedMatching MONDO:0003973 tubular variant testicular seminoma skos:exactMatch MEDGEN:308259 semapv:UnspecifiedMatching MONDO:0003973 tubular variant testicular seminoma skos:exactMatch NCIT:C40959 Testicular Seminoma, Tubular Variant semapv:UnspecifiedMatching MONDO:0003973 tubular variant testicular seminoma skos:exactMatch UMLS:C1515294 semapv:UnspecifiedMatching MONDO:0003975 Littre gland carcinoma skos:exactMatch DOID:6721 Littre gland carcinoma semapv:UnspecifiedMatching MONDO:0003975 Littre gland carcinoma skos:exactMatch MEDGEN:273092 semapv:UnspecifiedMatching MONDO:0003975 Littre gland carcinoma skos:exactMatch NCIT:C39865 Littre Gland Adenocarcinoma of the Urethra semapv:UnspecifiedMatching MONDO:0003975 Littre gland carcinoma skos:exactMatch UMLS:C1516285 semapv:UnspecifiedMatching MONDO:0003976 malignant type AB thymoma skos:exactMatch DOID:6723 malignant type AB thymoma semapv:UnspecifiedMatching MONDO:0003976 malignant type AB thymoma skos:exactMatch MEDGEN:224760 semapv:UnspecifiedMatching MONDO:0003976 malignant type AB thymoma skos:exactMatch NCIT:C6886 Malignant Type AB Thymoma semapv:UnspecifiedMatching MONDO:0003976 malignant type AB thymoma skos:exactMatch UMLS:C1266093 semapv:UnspecifiedMatching MONDO:0003978 colon small cell neuroendocrine carcinoma skos:exactMatch DOID:6727 colon small cell carcinoma semapv:UnspecifiedMatching MONDO:0003978 colon small cell neuroendocrine carcinoma skos:exactMatch MEDGEN:232087 semapv:UnspecifiedMatching MONDO:0003978 colon small cell neuroendocrine carcinoma skos:exactMatch NCIT:C6761 Colon Small Cell Neuroendocrine Carcinoma semapv:UnspecifiedMatching MONDO:0003978 colon small cell neuroendocrine carcinoma skos:exactMatch UMLS:C1333099 semapv:UnspecifiedMatching MONDO:0003979 intrahepatic bile duct cystadenoma skos:exactMatch DOID:6733 intrahepatic bile duct cystadenoma semapv:UnspecifiedMatching MONDO:0003979 intrahepatic bile duct cystadenoma skos:exactMatch MEDGEN:235226 semapv:UnspecifiedMatching MONDO:0003979 intrahepatic bile duct cystadenoma skos:exactMatch NCIT:C96835 Intrahepatic Bile Duct Mucinous Cystic Neoplasm semapv:UnspecifiedMatching MONDO:0003979 intrahepatic bile duct cystadenoma skos:exactMatch UMLS:C1334257 semapv:UnspecifiedMatching MONDO:0003980 schwannoma of jugular foramen skos:exactMatch DOID:6735 schwannoma of jugular foramen semapv:UnspecifiedMatching MONDO:0003980 schwannoma of jugular foramen skos:exactMatch MEDGEN:272780 semapv:UnspecifiedMatching MONDO:0003980 schwannoma of jugular foramen skos:exactMatch NCIT:C5323 Jugular Foramen Schwannoma semapv:UnspecifiedMatching MONDO:0003980 schwannoma of jugular foramen skos:exactMatch UMLS:C1334300 semapv:UnspecifiedMatching MONDO:0003982 bilateral breast carcinoma skos:exactMatch DOID:6741 bilateral breast cancer semapv:UnspecifiedMatching MONDO:0003982 bilateral breast carcinoma skos:exactMatch MEDGEN:128977 semapv:UnspecifiedMatching MONDO:0003982 bilateral breast carcinoma skos:exactMatch NCIT:C8287 Bilateral Breast Carcinoma semapv:UnspecifiedMatching MONDO:0003982 bilateral breast carcinoma skos:exactMatch UMLS:C0281267 semapv:UnspecifiedMatching MONDO:0003983 synchronous bilateral breast carcinoma skos:exactMatch DOID:6742 synchronous bilateral breast carcinoma semapv:UnspecifiedMatching MONDO:0003983 synchronous bilateral breast carcinoma skos:exactMatch MEDGEN:271163 semapv:UnspecifiedMatching MONDO:0003983 synchronous bilateral breast carcinoma skos:exactMatch NCIT:C40370 Synchronous Bilateral Breast Carcinoma semapv:UnspecifiedMatching MONDO:0003983 synchronous bilateral breast carcinoma skos:exactMatch UMLS:C1515107 semapv:UnspecifiedMatching MONDO:0003984 internal auditory canal lipoma skos:exactMatch DOID:6752 internal auditory canal lipoma semapv:UnspecifiedMatching MONDO:0003984 internal auditory canal lipoma skos:exactMatch MEDGEN:232658 semapv:UnspecifiedMatching MONDO:0003984 internal auditory canal lipoma skos:exactMatch NCIT:C5452 Inner Ear Lipoma semapv:UnspecifiedMatching MONDO:0003984 internal auditory canal lipoma skos:exactMatch UMLS:C1334226 semapv:UnspecifiedMatching MONDO:0003985 chest wall lymphoma skos:exactMatch DOID:6758 chest wall lymphoma semapv:UnspecifiedMatching MONDO:0003985 chest wall lymphoma skos:exactMatch MEDGEN:232053 semapv:UnspecifiedMatching MONDO:0003985 chest wall lymphoma skos:exactMatch NCIT:C6712 Chest Wall Lymphoma semapv:UnspecifiedMatching MONDO:0003985 chest wall lymphoma skos:exactMatch UMLS:C1332933 semapv:UnspecifiedMatching MONDO:0003987 lung lymphoma skos:exactMatch DOID:6760 lung lymphoma semapv:UnspecifiedMatching MONDO:0003987 lung lymphoma skos:exactMatch MEDGEN:312385 semapv:UnspecifiedMatching MONDO:0003987 lung lymphoma skos:exactMatch NCIT:C4794 Lung Lymphoma semapv:UnspecifiedMatching MONDO:0003987 lung lymphoma skos:exactMatch UMLS:C1704383 semapv:UnspecifiedMatching MONDO:0003988 sternum lymphoma skos:exactMatch DOID:6762 sternum lymphoma semapv:UnspecifiedMatching MONDO:0003988 sternum lymphoma skos:exactMatch MEDGEN:277770 semapv:UnspecifiedMatching MONDO:0003988 sternum lymphoma skos:exactMatch NCIT:C6716 Sternal Lymphoma semapv:UnspecifiedMatching MONDO:0003988 sternum lymphoma skos:exactMatch UMLS:C1336504 semapv:UnspecifiedMatching MONDO:0003989 polyembryoma of the ovary skos:exactMatch DOID:6774 polyembryoma of the ovary semapv:UnspecifiedMatching MONDO:0003989 polyembryoma of the ovary skos:exactMatch MEDGEN:271323 semapv:UnspecifiedMatching MONDO:0003989 polyembryoma of the ovary skos:exactMatch NCIT:C39990 Ovarian Polyembryoma semapv:UnspecifiedMatching MONDO:0003989 polyembryoma of the ovary skos:exactMatch UMLS:C1514199 semapv:UnspecifiedMatching MONDO:0003990 malignant breast myoepithelioma skos:exactMatch DOID:6776 breast myoepithelial carcinoma semapv:UnspecifiedMatching MONDO:0003990 malignant breast myoepithelioma skos:exactMatch MEDGEN:309375 semapv:UnspecifiedMatching MONDO:0003990 malignant breast myoepithelioma skos:exactMatch NCIT:C40395 Breast Malignant Myoepithelioma semapv:UnspecifiedMatching MONDO:0003990 malignant breast myoepithelioma skos:exactMatch UMLS:C1518167 semapv:UnspecifiedMatching MONDO:0003991 villoglandular endometrial endometrioid adenocarcinoma skos:exactMatch DOID:6777 villoglandular endometrial endometrioid adenocarcinoma semapv:UnspecifiedMatching MONDO:0003991 villoglandular endometrial endometrioid adenocarcinoma skos:exactMatch MEDGEN:277869 semapv:UnspecifiedMatching MONDO:0003991 villoglandular endometrial endometrioid adenocarcinoma skos:exactMatch NCIT:C27846 Villoglandular Endometrial Endometrioid Adenocarcinoma semapv:UnspecifiedMatching MONDO:0003991 villoglandular endometrial endometrioid adenocarcinoma skos:exactMatch UMLS:C1336962 semapv:UnspecifiedMatching MONDO:0003992 childhood botryoid rhabdomyosarcoma skos:exactMatch DOID:6786 childhood botryoid rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0003992 childhood botryoid rhabdomyosarcoma skos:exactMatch MEDGEN:232054 semapv:UnspecifiedMatching MONDO:0003992 childhood botryoid rhabdomyosarcoma skos:exactMatch NCIT:C35574 Childhood Botryoid-Type Embryonal Rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0003992 childhood botryoid rhabdomyosarcoma skos:exactMatch UMLS:C1332944 semapv:UnspecifiedMatching MONDO:0003993 childhood vagina botryoid rhabdomyosarcoma skos:exactMatch DOID:6787 childhood vagina botryoid rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0003993 childhood vagina botryoid rhabdomyosarcoma skos:exactMatch MEDGEN:232055 semapv:UnspecifiedMatching MONDO:0003993 childhood vagina botryoid rhabdomyosarcoma skos:exactMatch NCIT:C35556 Childhood Vaginal Botryoid-Type Embryonal Rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0003993 childhood vagina botryoid rhabdomyosarcoma skos:exactMatch UMLS:C1332945 semapv:UnspecifiedMatching MONDO:0003994 botryoid-type embryonal rhabdomyosarcoma of the vagina skos:exactMatch DOID:6788 vagina botryoid rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0003994 botryoid-type embryonal rhabdomyosarcoma of the vagina skos:exactMatch MEDGEN:267758 semapv:UnspecifiedMatching MONDO:0003994 botryoid-type embryonal rhabdomyosarcoma of the vagina skos:exactMatch NCIT:C40268 Vaginal Botryoid-Type Embryonal Rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0003994 botryoid-type embryonal rhabdomyosarcoma of the vagina skos:exactMatch UMLS:C1511275 semapv:UnspecifiedMatching MONDO:0003995 vulvar childhood botryoid-type embryonal rhabdomyosarcoma skos:exactMatch DOID:6789 vulvar childhood botryoid-type embryonal rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0003995 vulvar childhood botryoid-type embryonal rhabdomyosarcoma skos:exactMatch MEDGEN:232056 semapv:UnspecifiedMatching MONDO:0003995 vulvar childhood botryoid-type embryonal rhabdomyosarcoma skos:exactMatch NCIT:C36098 Childhood Vulvar Botryoid-Type Embryonal Rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0003995 vulvar childhood botryoid-type embryonal rhabdomyosarcoma skos:exactMatch UMLS:C1332946 semapv:UnspecifiedMatching MONDO:0003996 basal ganglia disorder skos:exactMatch DOID:679 basal ganglia disease semapv:UnspecifiedMatching MONDO:0003996 basal ganglia disorder skos:exactMatch EFO:0009533 semapv:UnspecifiedMatching MONDO:0003996 basal ganglia disorder skos:exactMatch MEDGEN:1619147 semapv:UnspecifiedMatching MONDO:0003996 basal ganglia disorder skos:exactMatch SCTID:70835005 semapv:UnspecifiedMatching MONDO:0003996 basal ganglia disorder skos:exactMatch UMLS:C4520981 semapv:UnspecifiedMatching MONDO:0003996 basal ganglia disorder skos:exactMatch mesh:D001480 semapv:UnspecifiedMatching MONDO:0003997 colon Kaposi sarcoma skos:exactMatch DOID:6804 colon Kaposi sarcoma semapv:UnspecifiedMatching MONDO:0003997 colon Kaposi sarcoma skos:exactMatch MEDGEN:232378 semapv:UnspecifiedMatching MONDO:0003997 colon Kaposi sarcoma skos:exactMatch NCIT:C5516 Colon Kaposi Sarcoma semapv:UnspecifiedMatching MONDO:0003997 colon Kaposi sarcoma skos:exactMatch UMLS:C1333091 semapv:UnspecifiedMatching MONDO:0003998 obsolete vaginal tubular adenoma skos:exactMatch DOID:6809 obsolete vaginal tubular adenoma semapv:UnspecifiedMatching MONDO:0003998 obsolete vaginal tubular adenoma skos:exactMatch NCIT:C40257 Vaginal Tubular Adenoma semapv:UnspecifiedMatching MONDO:0003999 juvenile pilocytic astrocytoma skos:exactMatch DOID:6811 juvenile pilocytic astrocytoma semapv:UnspecifiedMatching MONDO:0003999 juvenile pilocytic astrocytoma skos:exactMatch MEDGEN:128890 semapv:UnspecifiedMatching MONDO:0003999 juvenile pilocytic astrocytoma skos:exactMatch NCIT:C27081 Juvenile Pilocytic Astrocytoma semapv:UnspecifiedMatching MONDO:0003999 juvenile pilocytic astrocytoma skos:exactMatch Orphanet:673580 Classic pilocytic astrocytoma semapv:UnspecifiedMatching MONDO:0003999 juvenile pilocytic astrocytoma skos:exactMatch UMLS:C0280783 semapv:UnspecifiedMatching MONDO:0004000 childhood pilocytic astrocytoma skos:exactMatch DOID:6812 childhood pilocytic astrocytoma semapv:UnspecifiedMatching MONDO:0004000 childhood pilocytic astrocytoma skos:exactMatch MEDGEN:232355 semapv:UnspecifiedMatching MONDO:0004000 childhood pilocytic astrocytoma skos:exactMatch NCIT:C4048 Childhood Pilocytic Astrocytoma semapv:UnspecifiedMatching MONDO:0004000 childhood pilocytic astrocytoma skos:exactMatch UMLS:C1332995 semapv:UnspecifiedMatching MONDO:0004001 compartment syndrome skos:exactMatch DOID:682 compartment syndrome semapv:UnspecifiedMatching MONDO:0004001 compartment syndrome skos:exactMatch MEDGEN:40417 semapv:UnspecifiedMatching MONDO:0004001 compartment syndrome skos:exactMatch NCIT:C118422 Compartment Syndrome semapv:UnspecifiedMatching MONDO:0004001 compartment syndrome skos:exactMatch SCTID:111245009 semapv:UnspecifiedMatching MONDO:0004001 compartment syndrome skos:exactMatch UMLS:C0009492 semapv:UnspecifiedMatching MONDO:0004001 compartment syndrome skos:exactMatch mesh:D003161 semapv:UnspecifiedMatching MONDO:0004004 motor nerve neuritis skos:exactMatch DOID:683 motor neuritis semapv:UnspecifiedMatching MONDO:0004004 motor nerve neuritis skos:exactMatch MEDGEN:68610 semapv:UnspecifiedMatching MONDO:0004004 motor nerve neuritis skos:exactMatch UMLS:C0235025 semapv:UnspecifiedMatching MONDO:0004005 rete ovarii adenoma skos:exactMatch DOID:6837 rete ovarii adenoma semapv:UnspecifiedMatching MONDO:0004005 rete ovarii adenoma skos:exactMatch MEDGEN:271495 semapv:UnspecifiedMatching MONDO:0004005 rete ovarii adenoma skos:exactMatch NCIT:C40018 Rete Ovarii Adenoma semapv:UnspecifiedMatching MONDO:0004005 rete ovarii adenoma skos:exactMatch UMLS:C1514905 semapv:UnspecifiedMatching MONDO:0004006 rete ovarii cystadenofibroma skos:exactMatch DOID:6838 rete ovarii cystadenofibroma semapv:UnspecifiedMatching MONDO:0004006 rete ovarii cystadenofibroma skos:exactMatch MEDGEN:308159 semapv:UnspecifiedMatching MONDO:0004006 rete ovarii cystadenofibroma skos:exactMatch NCIT:C40020 Rete Ovarii Cystadenofibroma semapv:UnspecifiedMatching MONDO:0004006 rete ovarii cystadenofibroma skos:exactMatch UMLS:C1514906 semapv:UnspecifiedMatching MONDO:0004007 breast intraductal proliferative lesion skos:exactMatch DOID:6839 breast intraductal proliferative lesion semapv:UnspecifiedMatching MONDO:0004007 breast intraductal proliferative lesion skos:exactMatch MEDGEN:277343 semapv:UnspecifiedMatching MONDO:0004007 breast intraductal proliferative lesion skos:exactMatch NCIT:C27942 Breast Intraductal Proliferative Lesion semapv:UnspecifiedMatching MONDO:0004007 breast intraductal proliferative lesion skos:exactMatch UMLS:C1334631 semapv:UnspecifiedMatching MONDO:0004008 flat ductal epithelial atypia skos:exactMatch DOID:6841 flat ductal epithelial atypia semapv:UnspecifiedMatching MONDO:0004008 flat ductal epithelial atypia skos:exactMatch MEDGEN:232508 semapv:UnspecifiedMatching MONDO:0004008 flat ductal epithelial atypia skos:exactMatch NCIT:C36086 Breast Flat Ductal Epithelial Atypia semapv:UnspecifiedMatching MONDO:0004008 flat ductal epithelial atypia skos:exactMatch UMLS:C1333620 semapv:UnspecifiedMatching MONDO:0004009 kidney pelvis sarcomatoid transitional cell carcinoma skos:exactMatch DOID:6844 kidney pelvis sarcomatoid transitional cell carcinoma semapv:UnspecifiedMatching MONDO:0004009 kidney pelvis sarcomatoid transitional cell carcinoma skos:exactMatch MEDGEN:233403 semapv:UnspecifiedMatching MONDO:0004009 kidney pelvis sarcomatoid transitional cell carcinoma skos:exactMatch NCIT:C6186 Invasive Renal Pelvis Sarcomatoid Urothelial Carcinoma semapv:UnspecifiedMatching MONDO:0004009 kidney pelvis sarcomatoid transitional cell carcinoma skos:exactMatch UMLS:C1335752 semapv:UnspecifiedMatching MONDO:0004010 infiltrating renal pelvis/ureter urothelial carcinoma skos:exactMatch MEDGEN:268273 semapv:UnspecifiedMatching MONDO:0004010 infiltrating renal pelvis/ureter urothelial carcinoma skos:exactMatch NCIT:C39879 Invasive Renal Pelvis and Ureter Urothelial Carcinoma semapv:UnspecifiedMatching MONDO:0004010 infiltrating renal pelvis/ureter urothelial carcinoma skos:exactMatch UMLS:C1512750 semapv:UnspecifiedMatching MONDO:0004012 adult botryoid rhabdomyosarcoma skos:exactMatch DOID:6847 adult botryoid rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0004012 adult botryoid rhabdomyosarcoma skos:exactMatch MEDGEN:231032 semapv:UnspecifiedMatching MONDO:0004012 adult botryoid rhabdomyosarcoma skos:exactMatch NCIT:C36099 Adult Botryoid-Type Embryonal Rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0004012 adult botryoid rhabdomyosarcoma skos:exactMatch UMLS:C1332185 semapv:UnspecifiedMatching MONDO:0004013 adult vagina botryoid embryonal rhabdomyosarcoma skos:exactMatch DOID:6848 adult vagina botryoid rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0004013 adult vagina botryoid embryonal rhabdomyosarcoma skos:exactMatch MEDGEN:272994 semapv:UnspecifiedMatching MONDO:0004013 adult vagina botryoid embryonal rhabdomyosarcoma skos:exactMatch NCIT:C40267 Adult Vaginal Botryoid-Type Embryonal Rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0004013 adult vagina botryoid embryonal rhabdomyosarcoma skos:exactMatch UMLS:C1515893 semapv:UnspecifiedMatching MONDO:0004014 ethmoid sinus ectopic meningioma skos:exactMatch DOID:6854 ethmoid sinus ectopic meningioma semapv:UnspecifiedMatching MONDO:0004014 ethmoid sinus ectopic meningioma skos:exactMatch MEDGEN:232473 semapv:UnspecifiedMatching MONDO:0004014 ethmoid sinus ectopic meningioma skos:exactMatch NCIT:C5309 Ethmoid Sinus Primary Ectopic Meningioma semapv:UnspecifiedMatching MONDO:0004014 ethmoid sinus ectopic meningioma skos:exactMatch UMLS:C1333475 semapv:UnspecifiedMatching MONDO:0004015 pineal region teratoma skos:exactMatch DOID:6856 pineal region teratoma semapv:UnspecifiedMatching MONDO:0004015 pineal region teratoma skos:exactMatch MEDGEN:277517 semapv:UnspecifiedMatching MONDO:0004015 pineal region teratoma skos:exactMatch NCIT:C6753 Pineal Region Teratoma semapv:UnspecifiedMatching MONDO:0004015 pineal region teratoma skos:exactMatch UMLS:C1335419 semapv:UnspecifiedMatching MONDO:0004016 pineal region mature teratoma skos:exactMatch DOID:6857 pineal region mature teratoma semapv:UnspecifiedMatching MONDO:0004016 pineal region mature teratoma skos:exactMatch MEDGEN:233329 semapv:UnspecifiedMatching MONDO:0004016 pineal region mature teratoma skos:exactMatch NCIT:C6754 Pineal Region Mature Teratoma semapv:UnspecifiedMatching MONDO:0004016 pineal region mature teratoma skos:exactMatch UMLS:C1335417 semapv:UnspecifiedMatching MONDO:0004017 pineal region immature teratoma skos:exactMatch DOID:6858 pineal region immature teratoma semapv:UnspecifiedMatching MONDO:0004017 pineal region immature teratoma skos:exactMatch MEDGEN:277516 semapv:UnspecifiedMatching MONDO:0004017 pineal region immature teratoma skos:exactMatch NCIT:C6755 Pineal Region Immature Teratoma semapv:UnspecifiedMatching MONDO:0004017 pineal region immature teratoma skos:exactMatch UMLS:C1335416 semapv:UnspecifiedMatching MONDO:0004019 oxyphilic endometrial endometrioid adenocarcinoma skos:exactMatch DOID:6865 oxyphilic endometrial endometrioid adenocarcinoma semapv:UnspecifiedMatching MONDO:0004019 oxyphilic endometrial endometrioid adenocarcinoma skos:exactMatch MEDGEN:309527 semapv:UnspecifiedMatching MONDO:0004019 oxyphilic endometrial endometrioid adenocarcinoma skos:exactMatch NCIT:C27849 Oxyphilic Endometrial Endometrioid Adenocarcinoma semapv:UnspecifiedMatching MONDO:0004019 oxyphilic endometrial endometrioid adenocarcinoma skos:exactMatch UMLS:C1518768 semapv:UnspecifiedMatching MONDO:0004020 mediastinal gray zone lymphoma skos:exactMatch DOID:6867 mediastinal gray zone lymphoma semapv:UnspecifiedMatching MONDO:0004020 mediastinal gray zone lymphoma skos:exactMatch MEDGEN:233679 semapv:UnspecifiedMatching MONDO:0004020 mediastinal gray zone lymphoma skos:exactMatch NCIT:C37870 Mediastinal Gray-Zone Lymphoma semapv:UnspecifiedMatching MONDO:0004020 mediastinal gray zone lymphoma skos:exactMatch UMLS:C1334657 semapv:UnspecifiedMatching MONDO:0004021 mediastinal malignant lymphoma skos:exactMatch DOID:6868 mediastinal malignant lymphoma semapv:UnspecifiedMatching MONDO:0004021 mediastinal malignant lymphoma skos:exactMatch MEDGEN:235311 semapv:UnspecifiedMatching MONDO:0004021 mediastinal malignant lymphoma skos:exactMatch NCIT:C6633 Mediastinal Lymphoma semapv:UnspecifiedMatching MONDO:0004021 mediastinal malignant lymphoma skos:exactMatch UMLS:C1334665 semapv:UnspecifiedMatching MONDO:0004022 parasagittal meningioma skos:exactMatch DOID:6869 parasagittal meningioma semapv:UnspecifiedMatching MONDO:0004022 parasagittal meningioma skos:exactMatch MEDGEN:155845 semapv:UnspecifiedMatching MONDO:0004022 parasagittal meningioma skos:exactMatch NCIT:C4960 Parasagittal Meningioma semapv:UnspecifiedMatching MONDO:0004022 parasagittal meningioma skos:exactMatch UMLS:C0751304 semapv:UnspecifiedMatching MONDO:0004024 spinal cord neuroblastoma skos:exactMatch DOID:6871 spinal cord neuroblastoma semapv:UnspecifiedMatching MONDO:0004024 spinal cord neuroblastoma skos:exactMatch MEDGEN:234803 semapv:UnspecifiedMatching MONDO:0004024 spinal cord neuroblastoma skos:exactMatch NCIT:C5155 Intraspinal Neuroblastoma semapv:UnspecifiedMatching MONDO:0004024 spinal cord neuroblastoma skos:exactMatch UMLS:C1336046 semapv:UnspecifiedMatching MONDO:0004026 skin tag skos:exactMatch DOID:6873 skin tag semapv:UnspecifiedMatching MONDO:0004026 skin tag skos:exactMatch MEDGEN:11452 semapv:UnspecifiedMatching MONDO:0004026 skin tag skos:exactMatch NCIT:C3374 Skin Tag semapv:UnspecifiedMatching MONDO:0004026 skin tag skos:exactMatch SCTID:201091002 semapv:UnspecifiedMatching MONDO:0004026 skin tag skos:exactMatch UMLS:C0037293 semapv:UnspecifiedMatching MONDO:0004028 small intestinal fibrosarcoma skos:exactMatch DOID:6880 small bowel fibrosarcoma semapv:UnspecifiedMatching MONDO:0004028 small intestinal fibrosarcoma skos:exactMatch MEDGEN:234788 semapv:UnspecifiedMatching MONDO:0004028 small intestinal fibrosarcoma skos:exactMatch NCIT:C5336 Small Intestinal Fibrosarcoma semapv:UnspecifiedMatching MONDO:0004028 small intestinal fibrosarcoma skos:exactMatch UMLS:C1335994 semapv:UnspecifiedMatching MONDO:0004030 ureter transitional cell carcinoma skos:exactMatch DOID:6888 ureter transitional cell carcinoma semapv:UnspecifiedMatching MONDO:0004030 ureter transitional cell carcinoma skos:exactMatch MEDGEN:108291 semapv:UnspecifiedMatching MONDO:0004030 ureter transitional cell carcinoma skos:exactMatch NCIT:C4830 Ureter Urothelial Carcinoma semapv:UnspecifiedMatching MONDO:0004030 ureter transitional cell carcinoma skos:exactMatch SCTID:300988009 semapv:UnspecifiedMatching MONDO:0004030 ureter transitional cell carcinoma skos:exactMatch UMLS:C0577692 semapv:UnspecifiedMatching MONDO:0004032 ovarian seromucinous carcinoma skos:exactMatch DOID:6898 ovarian seromucinous carcinoma semapv:UnspecifiedMatching MONDO:0004032 ovarian seromucinous carcinoma skos:exactMatch MEDGEN:1651770 semapv:UnspecifiedMatching MONDO:0004032 ovarian seromucinous carcinoma skos:exactMatch NCIT:C40090 Ovarian Seromucinous Carcinoma semapv:UnspecifiedMatching MONDO:0004032 ovarian seromucinous carcinoma skos:exactMatch UMLS:C0279392 semapv:UnspecifiedMatching MONDO:0004034 eye lymphoma skos:exactMatch DOID:6903 eye lymphoma semapv:UnspecifiedMatching MONDO:0004034 eye lymphoma skos:exactMatch MEDGEN:1788822 semapv:UnspecifiedMatching MONDO:0004034 eye lymphoma skos:exactMatch NCIT:C35690 Eye Lymphoma semapv:UnspecifiedMatching MONDO:0004034 eye lymphoma skos:exactMatch UMLS:C0730306 semapv:UnspecifiedMatching MONDO:0004035 glomangiomatosis skos:exactMatch DOID:6906 glomangiomatosis semapv:UnspecifiedMatching MONDO:0004035 glomangiomatosis skos:exactMatch MEDGEN:234311 semapv:UnspecifiedMatching MONDO:0004035 glomangiomatosis skos:exactMatch NCIT:C27496 Glomangiomatosis semapv:UnspecifiedMatching MONDO:0004035 glomangiomatosis skos:exactMatch UMLS:C1333824 semapv:UnspecifiedMatching MONDO:0004037 retinal edema skos:exactMatch DOID:6929 retinal edema semapv:UnspecifiedMatching MONDO:0004037 retinal edema skos:exactMatch ICD10CM:H35.81 Retinal edema semapv:UnspecifiedMatching MONDO:0004037 retinal edema skos:exactMatch MEDGEN:69183 semapv:UnspecifiedMatching MONDO:0004037 retinal edema skos:exactMatch SCTID:6141006 semapv:UnspecifiedMatching MONDO:0004037 retinal edema skos:exactMatch UMLS:C0242420 semapv:UnspecifiedMatching MONDO:0004038 dental enamel hypoplasia skos:exactMatch DOID:693 dental enamel hypoplasia semapv:UnspecifiedMatching MONDO:0004038 dental enamel hypoplasia skos:exactMatch EFO:1001304 semapv:UnspecifiedMatching MONDO:0004038 dental enamel hypoplasia skos:exactMatch MEDGEN:3730 semapv:UnspecifiedMatching MONDO:0004038 dental enamel hypoplasia skos:exactMatch NCIT:C34529 Enamel Hypoplasia semapv:UnspecifiedMatching MONDO:0004038 dental enamel hypoplasia skos:exactMatch SCTID:26597004 semapv:UnspecifiedMatching MONDO:0004038 dental enamel hypoplasia skos:exactMatch UMLS:C0011351 semapv:UnspecifiedMatching MONDO:0004038 dental enamel hypoplasia skos:exactMatch mesh:D003744 semapv:UnspecifiedMatching MONDO:0004039 papillary extrahepatic bile duct adenocarcinoma skos:exactMatch DOID:6931 papillary extrahepatic bile duct adenocarcinoma semapv:UnspecifiedMatching MONDO:0004039 papillary extrahepatic bile duct adenocarcinoma skos:exactMatch MEDGEN:167831 semapv:UnspecifiedMatching MONDO:0004039 papillary extrahepatic bile duct adenocarcinoma skos:exactMatch UMLS:C0861858 semapv:UnspecifiedMatching MONDO:0004040 urinary bladder inverted papilloma skos:exactMatch DOID:6932 urinary bladder inverted papilloma semapv:UnspecifiedMatching MONDO:0004040 urinary bladder inverted papilloma skos:exactMatch MEDGEN:267740 semapv:UnspecifiedMatching MONDO:0004040 urinary bladder inverted papilloma skos:exactMatch NCIT:C39859 Bladder Inverted Papilloma semapv:UnspecifiedMatching MONDO:0004040 urinary bladder inverted papilloma skos:exactMatch SCTID:447765004 semapv:UnspecifiedMatching MONDO:0004040 urinary bladder inverted papilloma skos:exactMatch UMLS:C1511190 semapv:UnspecifiedMatching MONDO:0004041 urothelial papilloma skos:exactMatch DOID:6933 bladder transitional cell papilloma semapv:UnspecifiedMatching MONDO:0004041 urothelial papilloma skos:exactMatch MEDGEN:115999 semapv:UnspecifiedMatching MONDO:0004041 urothelial papilloma skos:exactMatch NCIT:C3842 Urothelial Papilloma semapv:UnspecifiedMatching MONDO:0004041 urothelial papilloma skos:exactMatch UMLS:C0235754 semapv:UnspecifiedMatching MONDO:0004042 urethra inverted papilloma skos:exactMatch DOID:6934 urethra inverted papilloma semapv:UnspecifiedMatching MONDO:0004042 urethra inverted papilloma skos:exactMatch MEDGEN:237034 semapv:UnspecifiedMatching MONDO:0004042 urethra inverted papilloma skos:exactMatch NCIT:C6173 Urethral Inverted Papilloma semapv:UnspecifiedMatching MONDO:0004042 urethra inverted papilloma skos:exactMatch UMLS:C1336887 semapv:UnspecifiedMatching MONDO:0004043 ureter inverted papilloma skos:exactMatch DOID:6935 ureter inverted papilloma semapv:UnspecifiedMatching MONDO:0004043 ureter inverted papilloma skos:exactMatch MEDGEN:277845 semapv:UnspecifiedMatching MONDO:0004043 ureter inverted papilloma skos:exactMatch NCIT:C6174 Ureter Inverted Papilloma semapv:UnspecifiedMatching MONDO:0004043 ureter inverted papilloma skos:exactMatch UMLS:C1336874 semapv:UnspecifiedMatching MONDO:0004044 ureter urothelial papilloma skos:exactMatch DOID:6936 ureter urothelial papilloma semapv:UnspecifiedMatching MONDO:0004044 ureter urothelial papilloma skos:exactMatch MEDGEN:275548 semapv:UnspecifiedMatching MONDO:0004044 ureter urothelial papilloma skos:exactMatch NCIT:C6160 Ureter Urothelial Papilloma semapv:UnspecifiedMatching MONDO:0004044 ureter urothelial papilloma skos:exactMatch UMLS:C1519823 semapv:UnspecifiedMatching MONDO:0004045 pediatric intraocular retinoblastoma skos:exactMatch DOID:6938 childhood intraocular retinoblastoma semapv:UnspecifiedMatching MONDO:0004045 pediatric intraocular retinoblastoma skos:exactMatch MEDGEN:230836 semapv:UnspecifiedMatching MONDO:0004045 pediatric intraocular retinoblastoma skos:exactMatch NCIT:C9047 Childhood Intraocular Retinoblastoma semapv:UnspecifiedMatching MONDO:0004045 pediatric intraocular retinoblastoma skos:exactMatch UMLS:C1321869 semapv:UnspecifiedMatching MONDO:0004046 childhood brain meningioma skos:exactMatch DOID:6939 childhood brain meningioma semapv:UnspecifiedMatching MONDO:0004046 childhood brain meningioma skos:exactMatch MEDGEN:234122 semapv:UnspecifiedMatching MONDO:0004046 childhood brain meningioma skos:exactMatch NCIT:C6253 Childhood Intracranial Meningioma semapv:UnspecifiedMatching MONDO:0004046 childhood brain meningioma skos:exactMatch UMLS:C1332949 semapv:UnspecifiedMatching MONDO:0004047 sphenoidal sinus neoplasm skos:exactMatch DOID:6947 sphenoidal sinus benign neoplasm semapv:UnspecifiedMatching MONDO:0004047 sphenoidal sinus neoplasm skos:exactMatch MEDGEN:87511 semapv:UnspecifiedMatching MONDO:0004047 sphenoidal sinus neoplasm skos:exactMatch NCIT:C6792 Sphenoid Sinus Neoplasm semapv:UnspecifiedMatching MONDO:0004047 sphenoidal sinus neoplasm skos:exactMatch SCTID:126679002 semapv:UnspecifiedMatching MONDO:0004047 sphenoidal sinus neoplasm skos:exactMatch UMLS:C0345676 semapv:UnspecifiedMatching MONDO:0004048 immature gastric teratoma skos:exactMatch DOID:6948 malignant gastric teratoma semapv:UnspecifiedMatching MONDO:0004048 immature gastric teratoma skos:exactMatch MEDGEN:272752 semapv:UnspecifiedMatching MONDO:0004048 immature gastric teratoma skos:exactMatch NCIT:C5256 Gastric Immature Teratoma semapv:UnspecifiedMatching MONDO:0004048 immature gastric teratoma skos:exactMatch UMLS:C1334151 semapv:UnspecifiedMatching MONDO:0004049 combat disorder skos:exactMatch DOID:6950 combat disorder semapv:UnspecifiedMatching MONDO:0004049 combat disorder skos:exactMatch MEDGEN:40403 semapv:UnspecifiedMatching MONDO:0004049 combat disorder skos:exactMatch SCTID:279611005 semapv:UnspecifiedMatching MONDO:0004049 combat disorder skos:exactMatch UMLS:C0009426 semapv:UnspecifiedMatching MONDO:0004049 combat disorder skos:exactMatch mesh:D003130 semapv:UnspecifiedMatching MONDO:0004050 telangiectatic osteogenic sarcoma skos:exactMatch DOID:6951 telangiectatic osteogenic sarcoma semapv:UnspecifiedMatching MONDO:0004050 telangiectatic osteogenic sarcoma skos:exactMatch MEDGEN:78059 semapv:UnspecifiedMatching MONDO:0004050 telangiectatic osteogenic sarcoma skos:exactMatch NCIT:C3902 Telangiectatic Osteosarcoma semapv:UnspecifiedMatching MONDO:0004050 telangiectatic osteogenic sarcoma skos:exactMatch UMLS:C0259782 semapv:UnspecifiedMatching MONDO:0004051 aleukemic monocytic leukemia cutis skos:exactMatch DOID:6958 aleukemic monocytic leukemia cutis semapv:UnspecifiedMatching MONDO:0004051 aleukemic monocytic leukemia cutis skos:exactMatch MEDGEN:231050 semapv:UnspecifiedMatching MONDO:0004051 aleukemic monocytic leukemia cutis skos:exactMatch NCIT:C5630 Aleukemic Monocytic Leukemia Cutis semapv:UnspecifiedMatching MONDO:0004051 aleukemic monocytic leukemia cutis skos:exactMatch UMLS:C1332232 semapv:UnspecifiedMatching MONDO:0004052 rectal cloacogenic carcinoma skos:exactMatch DOID:6959 rectal cloacogenic carcinoma semapv:UnspecifiedMatching MONDO:0004052 rectal cloacogenic carcinoma skos:exactMatch MEDGEN:234156 semapv:UnspecifiedMatching MONDO:0004052 rectal cloacogenic carcinoma skos:exactMatch NCIT:C5555 Rectal Cloacogenic Carcinoma semapv:UnspecifiedMatching MONDO:0004052 rectal cloacogenic carcinoma skos:exactMatch UMLS:C1333074 semapv:UnspecifiedMatching MONDO:0004053 bartholin gland squamous cell carcinoma skos:exactMatch DOID:6961 Bartholin's gland squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0004053 bartholin gland squamous cell carcinoma skos:exactMatch MEDGEN:307249 semapv:UnspecifiedMatching MONDO:0004053 bartholin gland squamous cell carcinoma skos:exactMatch NCIT:C40293 Bartholin Gland Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0004053 bartholin gland squamous cell carcinoma skos:exactMatch UMLS:C1511052 semapv:UnspecifiedMatching MONDO:0004054 acute canaliculitis skos:exactMatch DOID:6969 acute canaliculitis semapv:UnspecifiedMatching MONDO:0004054 acute canaliculitis skos:exactMatch ICD10CM:H04.33 Acute lacrimal canaliculitis semapv:UnspecifiedMatching MONDO:0004054 acute canaliculitis skos:exactMatch MEDGEN:572974 semapv:UnspecifiedMatching MONDO:0004054 acute canaliculitis skos:exactMatch SCTID:84399007 semapv:UnspecifiedMatching MONDO:0004054 acute canaliculitis skos:exactMatch UMLS:C0339130 semapv:UnspecifiedMatching MONDO:0004055 acute inflammation of lacrimal passage skos:exactMatch DOID:6970 acute inflammation of lacrimal passage semapv:UnspecifiedMatching MONDO:0004055 acute inflammation of lacrimal passage skos:exactMatch MEDGEN:572973 semapv:UnspecifiedMatching MONDO:0004055 acute inflammation of lacrimal passage skos:exactMatch SCTID:302900006 semapv:UnspecifiedMatching MONDO:0004055 acute inflammation of lacrimal passage skos:exactMatch UMLS:C0339129 semapv:UnspecifiedMatching MONDO:0004056 bladder papillary urothelial carcinoma skos:exactMatch DOID:6975 bladder urothelial papillary carcinoma semapv:UnspecifiedMatching MONDO:0004056 bladder papillary urothelial carcinoma skos:exactMatch MEDGEN:309552 semapv:UnspecifiedMatching MONDO:0004056 bladder papillary urothelial carcinoma skos:exactMatch NCIT:C7383 Bladder Papillary Urothelial Carcinoma semapv:UnspecifiedMatching MONDO:0004056 bladder papillary urothelial carcinoma skos:exactMatch UMLS:C1518882 semapv:UnspecifiedMatching MONDO:0004057 micropapillary variant infiltrating bladder urothelial carcinoma skos:exactMatch DOID:6976 micropapillary variant infiltrating bladder urothelial carcinoma semapv:UnspecifiedMatching MONDO:0004057 micropapillary variant infiltrating bladder urothelial carcinoma skos:exactMatch MEDGEN:273397 semapv:UnspecifiedMatching MONDO:0004057 micropapillary variant infiltrating bladder urothelial carcinoma skos:exactMatch NCIT:C27202 Invasive Bladder Micropapillary Urothelial Carcinoma semapv:UnspecifiedMatching MONDO:0004057 micropapillary variant infiltrating bladder urothelial carcinoma skos:exactMatch UMLS:C1517579 semapv:UnspecifiedMatching MONDO:0004058 pancreatic cholera skos:exactMatch DOID:6977 pancreatic cholera semapv:UnspecifiedMatching MONDO:0004058 pancreatic cholera skos:exactMatch MEDGEN:39692 semapv:UnspecifiedMatching MONDO:0004058 pancreatic cholera skos:exactMatch NCIT:C3488 WDHA Syndrome semapv:UnspecifiedMatching MONDO:0004058 pancreatic cholera skos:exactMatch SCTID:39998009 semapv:UnspecifiedMatching MONDO:0004058 pancreatic cholera skos:exactMatch UMLS:C0086768 semapv:UnspecifiedMatching MONDO:0004059 dentin sensitivity skos:exactMatch DOID:698 dentin sensitivity semapv:UnspecifiedMatching MONDO:0004059 dentin sensitivity skos:exactMatch MEDGEN:41477 semapv:UnspecifiedMatching MONDO:0004059 dentin sensitivity skos:exactMatch SCTID:13468005 semapv:UnspecifiedMatching MONDO:0004059 dentin sensitivity skos:exactMatch UMLS:C0011432 semapv:UnspecifiedMatching MONDO:0004059 dentin sensitivity skos:exactMatch mesh:D003807 semapv:UnspecifiedMatching MONDO:0004060 peripheral epithelioid sarcoma skos:exactMatch DOID:6988 peripheral epithelioid sarcoma semapv:UnspecifiedMatching MONDO:0004060 peripheral epithelioid sarcoma skos:exactMatch MEDGEN:232131 semapv:UnspecifiedMatching MONDO:0004060 peripheral epithelioid sarcoma skos:exactMatch NCIT:C27473 Distal-Type Epithelioid Sarcoma semapv:UnspecifiedMatching MONDO:0004060 peripheral epithelioid sarcoma skos:exactMatch UMLS:C1333306 semapv:UnspecifiedMatching MONDO:0004062 intermediate cell type uveal melanoma skos:exactMatch DOID:6992 intraocular mixed cell type melanoma semapv:UnspecifiedMatching MONDO:0004062 intermediate cell type uveal melanoma skos:exactMatch MEDGEN:76016 semapv:UnspecifiedMatching MONDO:0004062 intermediate cell type uveal melanoma skos:exactMatch NCIT:C7989 Uveal Intermediate Cell Type Melanoma semapv:UnspecifiedMatching MONDO:0004062 intermediate cell type uveal melanoma skos:exactMatch UMLS:C0279693 semapv:UnspecifiedMatching MONDO:0004063 intermediate cell type iris melanoma skos:exactMatch DOID:6993 iris mixed cell melanoma semapv:UnspecifiedMatching MONDO:0004063 intermediate cell type iris melanoma skos:exactMatch MEDGEN:233564 semapv:UnspecifiedMatching MONDO:0004063 intermediate cell type iris melanoma skos:exactMatch NCIT:C6101 Iris Intermediate Cell Type Melanoma semapv:UnspecifiedMatching MONDO:0004063 intermediate cell type iris melanoma skos:exactMatch UMLS:C1334210 semapv:UnspecifiedMatching MONDO:0004064 iris melanoma skos:exactMatch DOID:6994 malignant iris melanoma semapv:UnspecifiedMatching MONDO:0004064 iris melanoma skos:exactMatch MEDGEN:87559 semapv:UnspecifiedMatching MONDO:0004064 iris melanoma skos:exactMatch NCIT:C9088 Iris Melanoma semapv:UnspecifiedMatching MONDO:0004064 iris melanoma skos:exactMatch SCTID:255012009 semapv:UnspecifiedMatching MONDO:0004064 iris melanoma skos:exactMatch UMLS:C0346373 semapv:UnspecifiedMatching MONDO:0004065 intermediate cell type choroid melanoma skos:exactMatch DOID:6996 intermediate cell type choroid melanoma semapv:UnspecifiedMatching MONDO:0004065 intermediate cell type choroid melanoma skos:exactMatch MEDGEN:272760 semapv:UnspecifiedMatching MONDO:0004065 intermediate cell type choroid melanoma skos:exactMatch NCIT:C6100 Choroid Intermediate Cell Type Melanoma semapv:UnspecifiedMatching MONDO:0004065 intermediate cell type choroid melanoma skos:exactMatch UMLS:C1334208 semapv:UnspecifiedMatching MONDO:0004066 intermediate cell type ciliary body melanoma skos:exactMatch DOID:6997 intermediate cell type ciliary body melanoma semapv:UnspecifiedMatching MONDO:0004066 intermediate cell type ciliary body melanoma skos:exactMatch MEDGEN:233563 semapv:UnspecifiedMatching MONDO:0004066 intermediate cell type ciliary body melanoma skos:exactMatch NCIT:C6118 Ciliary Body Intermediate Cell Type Melanoma semapv:UnspecifiedMatching MONDO:0004066 intermediate cell type ciliary body melanoma skos:exactMatch UMLS:C1334209 semapv:UnspecifiedMatching MONDO:0004067 gallbladder mucinous adenocarcinoma skos:exactMatch DOID:6998 gallbladder mucinous carcinoma semapv:UnspecifiedMatching MONDO:0004067 gallbladder mucinous adenocarcinoma skos:exactMatch MEDGEN:234292 semapv:UnspecifiedMatching MONDO:0004067 gallbladder mucinous adenocarcinoma skos:exactMatch NCIT:C5744 Gallbladder Mucinous Adenocarcinoma semapv:UnspecifiedMatching MONDO:0004067 gallbladder mucinous adenocarcinoma skos:exactMatch UMLS:C1333750 semapv:UnspecifiedMatching MONDO:0004069 inborn mitochondrial metabolism disorder skos:exactMatch DOID:700 mitochondrial metabolism disease semapv:UnspecifiedMatching MONDO:0004069 inborn mitochondrial metabolism disorder skos:exactMatch MEDGEN:1778113 semapv:UnspecifiedMatching MONDO:0004069 inborn mitochondrial metabolism disorder skos:exactMatch Orphanet:68380 Mitochondrial disease semapv:UnspecifiedMatching MONDO:0004069 inborn mitochondrial metabolism disorder skos:exactMatch UMLS:C1456275 semapv:UnspecifiedMatching MONDO:0004069 inborn mitochondrial metabolism disorder skos:exactMatch mesh:D028361 semapv:UnspecifiedMatching MONDO:0004071 childhood cerebral astrocytoma skos:exactMatch DOID:7007 childhood cerebral astrocytoma semapv:UnspecifiedMatching MONDO:0004071 childhood cerebral astrocytoma skos:exactMatch MEDGEN:137828 semapv:UnspecifiedMatching MONDO:0004071 childhood cerebral astrocytoma skos:exactMatch NCIT:C4347 Childhood Cerebral Astrocytoma semapv:UnspecifiedMatching MONDO:0004071 childhood cerebral astrocytoma skos:exactMatch UMLS:C0338070 semapv:UnspecifiedMatching MONDO:0004074 ovarian mucinous cystadenofibroma skos:exactMatch DOID:7013 ovarian mucinous cystadenofibroma semapv:UnspecifiedMatching MONDO:0004074 ovarian mucinous cystadenofibroma skos:exactMatch MEDGEN:276670 semapv:UnspecifiedMatching MONDO:0004074 ovarian mucinous cystadenofibroma skos:exactMatch NCIT:C40041 Ovarian Mucinous Cystadenofibroma semapv:UnspecifiedMatching MONDO:0004074 ovarian mucinous cystadenofibroma skos:exactMatch UMLS:C1518725 semapv:UnspecifiedMatching MONDO:0004075 infiltrating lipoma skos:exactMatch DOID:7014 infiltrating lipoma semapv:UnspecifiedMatching MONDO:0004075 infiltrating lipoma skos:exactMatch MEDGEN:90788 semapv:UnspecifiedMatching MONDO:0004075 infiltrating lipoma skos:exactMatch NCIT:C7450 Intramuscular Lipoma semapv:UnspecifiedMatching MONDO:0004075 infiltrating lipoma skos:exactMatch NCIT:C7451 Infiltrating Lipoma semapv:UnspecifiedMatching MONDO:0004075 infiltrating lipoma skos:exactMatch UMLS:C0334473 semapv:UnspecifiedMatching MONDO:0004076 tendon sheath lipoma skos:exactMatch DOID:7016 tendon sheath lipoma semapv:UnspecifiedMatching MONDO:0004076 tendon sheath lipoma skos:exactMatch MEDGEN:277806 semapv:UnspecifiedMatching MONDO:0004076 tendon sheath lipoma skos:exactMatch NCIT:C6499 Tendon Sheath Lipoma semapv:UnspecifiedMatching MONDO:0004076 tendon sheath lipoma skos:exactMatch UMLS:C1336703 semapv:UnspecifiedMatching MONDO:0004077 lumbosacral lipoma skos:exactMatch DOID:7017 lumbosacral lipoma semapv:UnspecifiedMatching MONDO:0004077 lumbosacral lipoma skos:exactMatch MEDGEN:232708 semapv:UnspecifiedMatching MONDO:0004077 lumbosacral lipoma skos:exactMatch NCIT:C6500 Lumbosacral Lipoma semapv:UnspecifiedMatching MONDO:0004077 lumbosacral lipoma skos:exactMatch UMLS:C1334438 semapv:UnspecifiedMatching MONDO:0004078 mucinous intrahepatic cholangiocarcinoma skos:exactMatch DOID:7024 mucinous intrahepatic cholangiocarcinoma semapv:UnspecifiedMatching MONDO:0004078 mucinous intrahepatic cholangiocarcinoma skos:exactMatch MEDGEN:270842 semapv:UnspecifiedMatching MONDO:0004078 mucinous intrahepatic cholangiocarcinoma skos:exactMatch NCIT:C41618 Mucin-Producing Intrahepatic Cholangiocarcinoma semapv:UnspecifiedMatching MONDO:0004078 mucinous intrahepatic cholangiocarcinoma skos:exactMatch UMLS:C1513718 semapv:UnspecifiedMatching MONDO:0004079 lung mucous gland adenoma skos:exactMatch DOID:7030 bronchial mucus gland adenoma semapv:UnspecifiedMatching MONDO:0004079 lung mucous gland adenoma skos:exactMatch MEDGEN:234054 semapv:UnspecifiedMatching MONDO:0004079 lung mucous gland adenoma skos:exactMatch NCIT:C5664 Lung Mucous Gland Adenoma semapv:UnspecifiedMatching MONDO:0004079 lung mucous gland adenoma skos:exactMatch UMLS:C1332640 semapv:UnspecifiedMatching MONDO:0004080 glottis squamous cell carcinoma skos:exactMatch DOID:7031 glottis squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0004080 glottis squamous cell carcinoma skos:exactMatch MEDGEN:76096 semapv:UnspecifiedMatching MONDO:0004080 glottis squamous cell carcinoma skos:exactMatch NCIT:C8186 Glottic Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0004080 glottis squamous cell carcinoma skos:exactMatch UMLS:C0280325 semapv:UnspecifiedMatching MONDO:0004081 extrahepatic bile duct clear cell adenocarcinoma skos:exactMatch DOID:7032 bile duct clear cell adenocarcinoma semapv:UnspecifiedMatching MONDO:0004081 extrahepatic bile duct clear cell adenocarcinoma skos:exactMatch MEDGEN:167829 semapv:UnspecifiedMatching MONDO:0004081 extrahepatic bile duct clear cell adenocarcinoma skos:exactMatch NCIT:C5775 Extrahepatic Bile Duct Clear Cell Adenocarcinoma semapv:UnspecifiedMatching MONDO:0004081 extrahepatic bile duct clear cell adenocarcinoma skos:exactMatch UMLS:C0861855 semapv:UnspecifiedMatching MONDO:0004082 childhood immature teratoma of ovary skos:exactMatch DOID:7037 childhood immature teratoma of ovary semapv:UnspecifiedMatching MONDO:0004082 childhood immature teratoma of ovary skos:exactMatch MEDGEN:232353 semapv:UnspecifiedMatching MONDO:0004082 childhood immature teratoma of ovary skos:exactMatch NCIT:C6547 Childhood Ovarian Immature Teratoma semapv:UnspecifiedMatching MONDO:0004082 childhood immature teratoma of ovary skos:exactMatch UMLS:C1332990 semapv:UnspecifiedMatching MONDO:0004083 Borst-Jadassohn intraepidermal carcinoma skos:exactMatch DOID:7039 Borst-Jadassohn intraepidermal carcinoma semapv:UnspecifiedMatching MONDO:0004083 Borst-Jadassohn intraepidermal carcinoma skos:exactMatch MEDGEN:424845 semapv:UnspecifiedMatching MONDO:0004083 Borst-Jadassohn intraepidermal carcinoma skos:exactMatch NCIT:C4110 Intraepidermal Epithelioma of Jadassohn semapv:UnspecifiedMatching MONDO:0004083 Borst-Jadassohn intraepidermal carcinoma skos:exactMatch SCTID:403886007 semapv:UnspecifiedMatching MONDO:0004083 Borst-Jadassohn intraepidermal carcinoma skos:exactMatch UMLS:C2937231 semapv:UnspecifiedMatching MONDO:0004085 choroid epithelioid cell melanoma skos:exactMatch DOID:7041 choroid epithelioid cell melanoma semapv:UnspecifiedMatching MONDO:0004085 choroid epithelioid cell melanoma skos:exactMatch MEDGEN:232360 semapv:UnspecifiedMatching MONDO:0004085 choroid epithelioid cell melanoma skos:exactMatch NCIT:C6102 Choroid Epithelioid Cell Melanoma semapv:UnspecifiedMatching MONDO:0004085 choroid epithelioid cell melanoma skos:exactMatch UMLS:C1333024 semapv:UnspecifiedMatching MONDO:0004086 ciliary body epithelioid cell melanoma skos:exactMatch DOID:7042 ciliary body epithelioid cell melanoma semapv:UnspecifiedMatching MONDO:0004086 ciliary body epithelioid cell melanoma skos:exactMatch MEDGEN:272484 semapv:UnspecifiedMatching MONDO:0004086 ciliary body epithelioid cell melanoma skos:exactMatch NCIT:C6119 Ciliary Body Epithelioid Cell Melanoma semapv:UnspecifiedMatching MONDO:0004086 ciliary body epithelioid cell melanoma skos:exactMatch UMLS:C1333050 semapv:UnspecifiedMatching MONDO:0004087 basaloid large cell lung carcinoma skos:exactMatch DOID:7045 basaloid lung carcinoma semapv:UnspecifiedMatching MONDO:0004087 basaloid large cell lung carcinoma skos:exactMatch MEDGEN:231419 semapv:UnspecifiedMatching MONDO:0004087 basaloid large cell lung carcinoma skos:exactMatch NCIT:C7266 Lung Basaloid Large Cell Carcinoma semapv:UnspecifiedMatching MONDO:0004087 basaloid large cell lung carcinoma skos:exactMatch UMLS:C1332463 semapv:UnspecifiedMatching MONDO:0004088 cervical basaloid carcinoma skos:exactMatch DOID:7046 cervical basaloid squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0004088 cervical basaloid carcinoma skos:exactMatch MEDGEN:267027 semapv:UnspecifiedMatching MONDO:0004088 cervical basaloid carcinoma skos:exactMatch NCIT:C40189 Cervical Basaloid Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0004088 cervical basaloid carcinoma skos:exactMatch UMLS:C1511063 semapv:UnspecifiedMatching MONDO:0004089 basaloid carcinoma of the penis skos:exactMatch DOID:7047 penis basaloid carcinoma semapv:UnspecifiedMatching MONDO:0004089 basaloid carcinoma of the penis skos:exactMatch MEDGEN:231418 semapv:UnspecifiedMatching MONDO:0004089 basaloid carcinoma of the penis skos:exactMatch NCIT:C6980 Penile Basaloid Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0004089 basaloid carcinoma of the penis skos:exactMatch UMLS:C1332462 semapv:UnspecifiedMatching MONDO:0004090 vulvar basaloid squamous cell carcinoma skos:exactMatch DOID:7048 vulvar basaloid squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0004090 vulvar basaloid squamous cell carcinoma skos:exactMatch MEDGEN:384496 semapv:UnspecifiedMatching MONDO:0004090 vulvar basaloid squamous cell carcinoma skos:exactMatch NCIT:C40286 Vulvar Basaloid Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0004090 vulvar basaloid squamous cell carcinoma skos:exactMatch UMLS:C2211850 semapv:UnspecifiedMatching MONDO:0004091 skin basaloid carcinoma skos:exactMatch DOID:7049 basaloid squamous cell skin carcinoma semapv:UnspecifiedMatching MONDO:0004091 skin basaloid carcinoma skos:exactMatch MEDGEN:233446 semapv:UnspecifiedMatching MONDO:0004091 skin basaloid carcinoma skos:exactMatch NCIT:C27543 Skin Basaloid Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0004091 skin basaloid carcinoma skos:exactMatch UMLS:C1335973 semapv:UnspecifiedMatching MONDO:0004092 thymic basaloid carcinoma skos:exactMatch DOID:7050 thymus basaloid carcinoma semapv:UnspecifiedMatching MONDO:0004092 thymic basaloid carcinoma skos:exactMatch MEDGEN:231420 semapv:UnspecifiedMatching MONDO:0004092 thymic basaloid carcinoma skos:exactMatch NCIT:C6456 Thymus Basaloid Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0004092 thymic basaloid carcinoma skos:exactMatch UMLS:C1332464 semapv:UnspecifiedMatching MONDO:0004093 esophageal basaloid carcinoma skos:exactMatch DOID:7051 esophageal basaloid squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0004093 esophageal basaloid carcinoma skos:exactMatch MEDGEN:232156 semapv:UnspecifiedMatching MONDO:0004093 esophageal basaloid carcinoma skos:exactMatch NCIT:C7032 Esophageal Basaloid Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0004093 esophageal basaloid carcinoma skos:exactMatch UMLS:C1333443 semapv:UnspecifiedMatching MONDO:0004094 multiple skull base meningioma skos:exactMatch DOID:7054 multiple skull base meningioma semapv:UnspecifiedMatching MONDO:0004094 multiple skull base meningioma skos:exactMatch MEDGEN:233723 semapv:UnspecifiedMatching MONDO:0004094 multiple skull base meningioma skos:exactMatch NCIT:C5279 Multiple Skull Base Meningiomas semapv:UnspecifiedMatching MONDO:0004094 multiple skull base meningioma skos:exactMatch UMLS:C1334829 semapv:UnspecifiedMatching MONDO:0004095 B-cell neoplasm skos:exactMatch DOID:707 B-cell lymphoma semapv:UnspecifiedMatching MONDO:0004095 B-cell neoplasm skos:exactMatch MEDGEN:86953 semapv:UnspecifiedMatching MONDO:0004095 B-cell neoplasm skos:exactMatch NCIT:C27907 B-Cell Neoplasm semapv:UnspecifiedMatching MONDO:0004095 B-cell neoplasm skos:exactMatch UMLS:C0079731 semapv:UnspecifiedMatching MONDO:0004095 B-cell neoplasm skos:exactMatch mesh:D016393 semapv:UnspecifiedMatching MONDO:0004096 spinal cord dermoid cyst skos:exactMatch DOID:7071 spinal cord dermoid cyst semapv:UnspecifiedMatching MONDO:0004096 spinal cord dermoid cyst skos:exactMatch MEDGEN:232125 semapv:UnspecifiedMatching MONDO:0004096 spinal cord dermoid cyst skos:exactMatch NCIT:C6808 Dermoid Cyst of the Spinal Cord semapv:UnspecifiedMatching MONDO:0004096 spinal cord dermoid cyst skos:exactMatch UMLS:C1333278 semapv:UnspecifiedMatching MONDO:0004098 malignant melanocytic peripheral nerve sheath tumor of mediastinum skos:exactMatch DOID:7077 malignant melanocytic peripheral nerve sheath tumor of mediastinum semapv:UnspecifiedMatching MONDO:0004098 malignant melanocytic peripheral nerve sheath tumor of mediastinum skos:exactMatch MEDGEN:233154 semapv:UnspecifiedMatching MONDO:0004098 malignant melanocytic peripheral nerve sheath tumor of mediastinum skos:exactMatch NCIT:C6630 Malignant Melanotic Peripheral Nerve Sheath Tumor of the Mediastinum semapv:UnspecifiedMatching MONDO:0004098 malignant melanocytic peripheral nerve sheath tumor of mediastinum skos:exactMatch UMLS:C1334600 semapv:UnspecifiedMatching MONDO:0004099 adult cystic teratoma skos:exactMatch DOID:7079 adult cystic teratoma semapv:UnspecifiedMatching MONDO:0004099 adult cystic teratoma skos:exactMatch MEDGEN:235084 semapv:UnspecifiedMatching MONDO:0004099 adult cystic teratoma skos:exactMatch NCIT:C9012 Adult Cystic Teratoma semapv:UnspecifiedMatching MONDO:0004099 adult cystic teratoma skos:exactMatch UMLS:C1368888 semapv:UnspecifiedMatching MONDO:0004100 lung mixed small cell and squamous cell carcinoma skos:exactMatch DOID:7081 lung mixed small cell and squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0004100 lung mixed small cell and squamous cell carcinoma skos:exactMatch MEDGEN:235331 semapv:UnspecifiedMatching MONDO:0004100 lung mixed small cell and squamous cell carcinoma skos:exactMatch NCIT:C9423 Combined Lung Small Cell and Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0004100 lung mixed small cell and squamous cell carcinoma skos:exactMatch UMLS:C1334788 semapv:UnspecifiedMatching MONDO:0004101 multicentric papillary thyroid carcinoma skos:exactMatch DOID:7086 multicentric papillary thyroid carcinoma semapv:UnspecifiedMatching MONDO:0004101 multicentric papillary thyroid carcinoma skos:exactMatch MEDGEN:235340 semapv:UnspecifiedMatching MONDO:0004101 multicentric papillary thyroid carcinoma skos:exactMatch NCIT:C37304 Multicentric Thyroid Gland Papillary Carcinoma semapv:UnspecifiedMatching MONDO:0004101 multicentric papillary thyroid carcinoma skos:exactMatch UMLS:C1334817 semapv:UnspecifiedMatching MONDO:0004102 columnar cell variant thyroid gland papillary carcinoma skos:exactMatch DOID:7088 columnar cell papillary thyroid carcinoma semapv:UnspecifiedMatching MONDO:0004102 columnar cell variant thyroid gland papillary carcinoma skos:exactMatch MEDGEN:272499 semapv:UnspecifiedMatching MONDO:0004102 columnar cell variant thyroid gland papillary carcinoma skos:exactMatch NCIT:C35830 Columnar Cell Variant Thyroid Gland Papillary Carcinoma semapv:UnspecifiedMatching MONDO:0004102 columnar cell variant thyroid gland papillary carcinoma skos:exactMatch UMLS:C1333120 semapv:UnspecifiedMatching MONDO:0004103 tall cell variant thyroid gland papillary carcinoma skos:exactMatch DOID:7089 tall cell papillary thyroid carcinoma semapv:UnspecifiedMatching MONDO:0004103 tall cell variant thyroid gland papillary carcinoma skos:exactMatch MEDGEN:234416 semapv:UnspecifiedMatching MONDO:0004103 tall cell variant thyroid gland papillary carcinoma skos:exactMatch NCIT:C35558 Tall Cell Variant Thyroid Gland Papillary Carcinoma semapv:UnspecifiedMatching MONDO:0004103 tall cell variant thyroid gland papillary carcinoma skos:exactMatch UMLS:C1336695 semapv:UnspecifiedMatching MONDO:0004104 splenic manifestation of hairy cell leukemia skos:exactMatch DOID:709 splenic manifestation of hairy cell leukemia semapv:UnspecifiedMatching MONDO:0004104 splenic manifestation of hairy cell leukemia skos:exactMatch MEDGEN:234812 semapv:UnspecifiedMatching MONDO:0004104 splenic manifestation of hairy cell leukemia skos:exactMatch NCIT:C7301 Splenic Manifestation of Hairy Cell Leukemia semapv:UnspecifiedMatching MONDO:0004104 splenic manifestation of hairy cell leukemia skos:exactMatch SCTID:93151007 semapv:UnspecifiedMatching MONDO:0004104 splenic manifestation of hairy cell leukemia skos:exactMatch UMLS:C1336064 semapv:UnspecifiedMatching MONDO:0004105 childhood epithelioid sarcoma skos:exactMatch DOID:7095 childhood epithelioid sarcoma semapv:UnspecifiedMatching MONDO:0004105 childhood epithelioid sarcoma skos:exactMatch MEDGEN:76055 semapv:UnspecifiedMatching MONDO:0004105 childhood epithelioid sarcoma skos:exactMatch NCIT:C8095 Childhood Epithelioid Sarcoma semapv:UnspecifiedMatching MONDO:0004105 childhood epithelioid sarcoma skos:exactMatch UMLS:C0279989 semapv:UnspecifiedMatching MONDO:0004106 testicular yolk sac tumor, macrocystic pattern skos:exactMatch DOID:7097 macrocystic pattern testicular yolk sac tumor semapv:UnspecifiedMatching MONDO:0004106 testicular yolk sac tumor, macrocystic pattern skos:exactMatch MEDGEN:271772 semapv:UnspecifiedMatching MONDO:0004106 testicular yolk sac tumor, macrocystic pattern skos:exactMatch NCIT:C39924 Testicular Yolk Sac Tumor, Macrocystic Pattern semapv:UnspecifiedMatching MONDO:0004106 testicular yolk sac tumor, macrocystic pattern skos:exactMatch UMLS:C1515307 semapv:UnspecifiedMatching MONDO:0004107 splenic manifestation of leukemia skos:exactMatch DOID:710 splenic manifestation of leukemia semapv:UnspecifiedMatching MONDO:0004107 splenic manifestation of leukemia skos:exactMatch MEDGEN:234813 semapv:UnspecifiedMatching MONDO:0004107 splenic manifestation of leukemia skos:exactMatch NCIT:C7296 Splenic Manifestation of Leukemia semapv:UnspecifiedMatching MONDO:0004107 splenic manifestation of leukemia skos:exactMatch UMLS:C1336065 semapv:UnspecifiedMatching MONDO:0004108 diaphragma sellae meningioma skos:exactMatch DOID:7103 diaphragma sellae meningioma semapv:UnspecifiedMatching MONDO:0004108 diaphragma sellae meningioma skos:exactMatch MEDGEN:234200 semapv:UnspecifiedMatching MONDO:0004108 diaphragma sellae meningioma skos:exactMatch NCIT:C5283 Diaphragma Sellae Meningioma semapv:UnspecifiedMatching MONDO:0004108 diaphragma sellae meningioma skos:exactMatch UMLS:C1333283 semapv:UnspecifiedMatching MONDO:0004109 epiglottis neoplasm skos:exactMatch DOID:7105 epiglottis neoplasm semapv:UnspecifiedMatching MONDO:0004109 epiglottis neoplasm skos:exactMatch MEDGEN:266215 semapv:UnspecifiedMatching MONDO:0004109 epiglottis neoplasm skos:exactMatch NCIT:C4933 Epiglottis Neoplasm semapv:UnspecifiedMatching MONDO:0004109 epiglottis neoplasm skos:exactMatch SCTID:126699008 semapv:UnspecifiedMatching MONDO:0004109 epiglottis neoplasm skos:exactMatch UMLS:C1290353 semapv:UnspecifiedMatching MONDO:0004110 refractory hairy cell leukemia skos:exactMatch DOID:711 refractory hairy cell leukemia semapv:UnspecifiedMatching MONDO:0004110 refractory hairy cell leukemia skos:exactMatch MEDGEN:1639342 semapv:UnspecifiedMatching MONDO:0004110 refractory hairy cell leukemia skos:exactMatch NCIT:C8030 Refractory Hairy Cell Leukemia semapv:UnspecifiedMatching MONDO:0004110 refractory hairy cell leukemia skos:exactMatch UMLS:C4551546 semapv:UnspecifiedMatching MONDO:0004111 refractory hematologic cancer skos:exactMatch DOID:712 refractory hematologic cancer semapv:UnspecifiedMatching MONDO:0004111 refractory hematologic cancer skos:exactMatch MEDGEN:233400 semapv:UnspecifiedMatching MONDO:0004111 refractory hematologic cancer skos:exactMatch NCIT:C27357 Refractory Hematologic Malignancy semapv:UnspecifiedMatching MONDO:0004111 refractory hematologic cancer skos:exactMatch UMLS:C1335724 semapv:UnspecifiedMatching MONDO:0004112 radiation cystitis skos:exactMatch DOID:7127 radiation cystitis semapv:UnspecifiedMatching MONDO:0004112 radiation cystitis skos:exactMatch ICD10CM:N30.4 Irradiation cystitis semapv:UnspecifiedMatching MONDO:0004112 radiation cystitis skos:exactMatch MEDGEN:510221 semapv:UnspecifiedMatching MONDO:0004112 radiation cystitis skos:exactMatch NCIT:C123174 Radiation Cystitis semapv:UnspecifiedMatching MONDO:0004112 radiation cystitis skos:exactMatch SCTID:11251000 semapv:UnspecifiedMatching MONDO:0004112 radiation cystitis skos:exactMatch UMLS:C0156270 semapv:UnspecifiedMatching MONDO:0004114 urinary bladder small cell neuroendocrine carcinoma skos:exactMatch DOID:7132 urinary bladder small cell neuroendocrine carcinoma semapv:UnspecifiedMatching MONDO:0004114 urinary bladder small cell neuroendocrine carcinoma skos:exactMatch EFO:1000129 semapv:UnspecifiedMatching MONDO:0004114 urinary bladder small cell neuroendocrine carcinoma skos:exactMatch MEDGEN:231950 semapv:UnspecifiedMatching MONDO:0004114 urinary bladder small cell neuroendocrine carcinoma skos:exactMatch NCIT:C9461 Bladder Small Cell Neuroendocrine Carcinoma semapv:UnspecifiedMatching MONDO:0004114 urinary bladder small cell neuroendocrine carcinoma skos:exactMatch Orphanet:284400 Small cell carcinoma of the bladder semapv:UnspecifiedMatching MONDO:0004114 urinary bladder small cell neuroendocrine carcinoma skos:exactMatch UMLS:C1332564 semapv:UnspecifiedMatching MONDO:0004116 esophageal small cell neuroendocrine carcinoma skos:exactMatch DOID:7134 esophagus small cell carcinoma semapv:UnspecifiedMatching MONDO:0004116 esophageal small cell neuroendocrine carcinoma skos:exactMatch MEDGEN:207270 semapv:UnspecifiedMatching MONDO:0004116 esophageal small cell neuroendocrine carcinoma skos:exactMatch NCIT:C6762 Esophageal Small Cell Neuroendocrine Carcinoma semapv:UnspecifiedMatching MONDO:0004116 esophageal small cell neuroendocrine carcinoma skos:exactMatch UMLS:C1112474 semapv:UnspecifiedMatching MONDO:0004117 ampulla of vater small cell neuroendocrine carcinoma skos:exactMatch DOID:7136 ampulla of Vater small cell carcinoma semapv:UnspecifiedMatching MONDO:0004117 ampulla of vater small cell neuroendocrine carcinoma skos:exactMatch MEDGEN:233974 semapv:UnspecifiedMatching MONDO:0004117 ampulla of vater small cell neuroendocrine carcinoma skos:exactMatch NCIT:C6655 Ampulla of Vater Small Cell Neuroendocrine Carcinoma semapv:UnspecifiedMatching MONDO:0004117 ampulla of vater small cell neuroendocrine carcinoma skos:exactMatch UMLS:C1332250 semapv:UnspecifiedMatching MONDO:0004118 cystitis cystica skos:exactMatch DOID:7138 cystitis cystica semapv:UnspecifiedMatching MONDO:0004118 cystitis cystica skos:exactMatch MEDGEN:472898 semapv:UnspecifiedMatching MONDO:0004118 cystitis cystica skos:exactMatch NCIT:C96230 Cystitis Cystica semapv:UnspecifiedMatching MONDO:0004118 cystitis cystica skos:exactMatch SCTID:13285005 semapv:UnspecifiedMatching MONDO:0004118 cystitis cystica skos:exactMatch UMLS:C0152262 semapv:UnspecifiedMatching MONDO:0004120 Bartholin gland small cell carcinoma skos:exactMatch DOID:7140 Bartholin's gland small cell carcinoma semapv:UnspecifiedMatching MONDO:0004120 Bartholin gland small cell carcinoma skos:exactMatch MEDGEN:267705 semapv:UnspecifiedMatching MONDO:0004120 Bartholin gland small cell carcinoma skos:exactMatch NCIT:C40298 Bartholin Gland Small Cell Neuroendocrine Carcinoma semapv:UnspecifiedMatching MONDO:0004120 Bartholin gland small cell carcinoma skos:exactMatch UMLS:C1511051 semapv:UnspecifiedMatching MONDO:0004122 thymus small cell carcinoma skos:exactMatch DOID:7142 thymus small cell carcinoma semapv:UnspecifiedMatching MONDO:0004122 thymus small cell carcinoma skos:exactMatch EFO:1000578 semapv:UnspecifiedMatching MONDO:0004122 thymus small cell carcinoma skos:exactMatch MEDGEN:234784 semapv:UnspecifiedMatching MONDO:0004122 thymus small cell carcinoma skos:exactMatch NCIT:C6460 Thymus Small Cell Neuroendocrine Carcinoma semapv:UnspecifiedMatching MONDO:0004122 thymus small cell carcinoma skos:exactMatch UMLS:C1335980 semapv:UnspecifiedMatching MONDO:0004124 prostate stromal sarcoma skos:exactMatch DOID:7152 prostate stromal sarcoma semapv:UnspecifiedMatching MONDO:0004124 prostate stromal sarcoma skos:exactMatch MEDGEN:233359 semapv:UnspecifiedMatching MONDO:0004124 prostate stromal sarcoma skos:exactMatch NCIT:C5524 Prostate Stromal Sarcoma semapv:UnspecifiedMatching MONDO:0004124 prostate stromal sarcoma skos:exactMatch UMLS:C1335521 semapv:UnspecifiedMatching MONDO:0004125 rectum leiomyoma skos:exactMatch DOID:7160 rectal leiomyoma semapv:UnspecifiedMatching MONDO:0004125 rectum leiomyoma skos:exactMatch MEDGEN:233390 semapv:UnspecifiedMatching MONDO:0004125 rectum leiomyoma skos:exactMatch NCIT:C5552 Rectal Leiomyoma semapv:UnspecifiedMatching MONDO:0004125 rectum leiomyoma skos:exactMatch UMLS:C1335682 semapv:UnspecifiedMatching MONDO:0004126 thyroiditis skos:exactMatch DOID:7166 thyroiditis semapv:UnspecifiedMatching MONDO:0004126 thyroiditis skos:exactMatch ICD10CM:E06 Thyroiditis semapv:UnspecifiedMatching MONDO:0004126 thyroiditis skos:exactMatch ICD10WHO:E06 Thyroiditis semapv:UnspecifiedMatching MONDO:0004126 thyroiditis skos:exactMatch MEDGEN:21548 semapv:UnspecifiedMatching MONDO:0004126 thyroiditis skos:exactMatch NCIT:C26894 Thyroiditis semapv:UnspecifiedMatching MONDO:0004126 thyroiditis skos:exactMatch SCTID:82119001 semapv:UnspecifiedMatching MONDO:0004126 thyroiditis skos:exactMatch UMLS:C0040147 semapv:UnspecifiedMatching MONDO:0004126 thyroiditis skos:exactMatch icd11.foundation:587793334 Thyroiditis semapv:UnspecifiedMatching MONDO:0004126 thyroiditis skos:exactMatch mesh:D013966 semapv:UnspecifiedMatching MONDO:0004127 lung occult adenocarcinoma skos:exactMatch DOID:7168 lung occult adenocarcinoma semapv:UnspecifiedMatching MONDO:0004127 lung occult adenocarcinoma skos:exactMatch MEDGEN:277443 semapv:UnspecifiedMatching MONDO:0004127 lung occult adenocarcinoma skos:exactMatch NCIT:C6699 Occult Lung Adenocarcinoma semapv:UnspecifiedMatching MONDO:0004127 lung occult adenocarcinoma skos:exactMatch UMLS:C1335096 semapv:UnspecifiedMatching MONDO:0004128 lung occult large cell carcinoma skos:exactMatch DOID:7169 lung occult large cell carcinoma semapv:UnspecifiedMatching MONDO:0004128 lung occult large cell carcinoma skos:exactMatch MEDGEN:235399 semapv:UnspecifiedMatching MONDO:0004128 lung occult large cell carcinoma skos:exactMatch NCIT:C6685 Occult Lung Large Cell Carcinoma semapv:UnspecifiedMatching MONDO:0004128 lung occult large cell carcinoma skos:exactMatch UMLS:C1335095 semapv:UnspecifiedMatching MONDO:0004129 cloacogenic carcinoma skos:exactMatch DOID:7173 cloacogenic carcinoma semapv:UnspecifiedMatching MONDO:0004129 cloacogenic carcinoma skos:exactMatch MEDGEN:90755 semapv:UnspecifiedMatching MONDO:0004129 cloacogenic carcinoma skos:exactMatch NCIT:C8255 Anal Canal Cloacogenic Carcinoma semapv:UnspecifiedMatching MONDO:0004129 cloacogenic carcinoma skos:exactMatch UMLS:C0334273 semapv:UnspecifiedMatching MONDO:0004129 cloacogenic carcinoma skos:exactMatch icd11.foundation:1771267581 semapv:UnspecifiedMatching MONDO:0004129 cloacogenic carcinoma skos:exactMatch mesh:C563020 semapv:UnspecifiedMatching MONDO:0004130 anus basaloid carcinoma skos:exactMatch DOID:7174 anus basaloid carcinoma semapv:UnspecifiedMatching MONDO:0004130 anus basaloid carcinoma skos:exactMatch MEDGEN:79125 semapv:UnspecifiedMatching MONDO:0004130 anus basaloid carcinoma skos:exactMatch NCIT:C8256 Anal Basaloid Carcinoma semapv:UnspecifiedMatching MONDO:0004130 anus basaloid carcinoma skos:exactMatch UMLS:C0280470 semapv:UnspecifiedMatching MONDO:0004131 anal verrucous carcinoma skos:exactMatch DOID:7175 anal Buschke-Lowenstein tumor semapv:UnspecifiedMatching MONDO:0004131 anal verrucous carcinoma skos:exactMatch MEDGEN:231066 semapv:UnspecifiedMatching MONDO:0004131 anal verrucous carcinoma skos:exactMatch NCIT:C7470 Anal Verrucous Carcinoma semapv:UnspecifiedMatching MONDO:0004131 anal verrucous carcinoma skos:exactMatch UMLS:C1332278 semapv:UnspecifiedMatching MONDO:0004132 anal canal squamous cell carcinoma skos:exactMatch DOID:7177 anal canal squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0004132 anal canal squamous cell carcinoma skos:exactMatch MEDGEN:233979 semapv:UnspecifiedMatching MONDO:0004132 anal canal squamous cell carcinoma skos:exactMatch NCIT:C7469 Anal Canal Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0004132 anal canal squamous cell carcinoma skos:exactMatch Orphanet:424019 Squamous cell carcinoma of the anal canal semapv:UnspecifiedMatching MONDO:0004132 anal canal squamous cell carcinoma skos:exactMatch UMLS:C1332262 semapv:UnspecifiedMatching MONDO:0004132 anal canal squamous cell carcinoma skos:exactMatch icd11.foundation:585238371 Squamous cell carcinoma of anus or anal canal semapv:UnspecifiedMatching MONDO:0004133 pituitary gland mixed eosinophil-basophil adenoma skos:exactMatch DOID:7179 mixed eosinophil-basophil adenoma semapv:UnspecifiedMatching MONDO:0004133 pituitary gland mixed eosinophil-basophil adenoma skos:exactMatch MEDGEN:87215 semapv:UnspecifiedMatching MONDO:0004133 pituitary gland mixed eosinophil-basophil adenoma skos:exactMatch NCIT:C4148 Pituitary Gland Mixed Acidophil-Basophil Adenoma semapv:UnspecifiedMatching MONDO:0004133 pituitary gland mixed eosinophil-basophil adenoma skos:exactMatch UMLS:C0334312 semapv:UnspecifiedMatching MONDO:0004134 benign dermal neurilemmoma skos:exactMatch DOID:7181 benign dermal neurilemmoma semapv:UnspecifiedMatching MONDO:0004134 benign dermal neurilemmoma skos:exactMatch MEDGEN:1810230 semapv:UnspecifiedMatching MONDO:0004134 benign dermal neurilemmoma skos:exactMatch NCIT:C5569 Skin Schwannoma semapv:UnspecifiedMatching MONDO:0004134 benign dermal neurilemmoma skos:exactMatch UMLS:C5686033 semapv:UnspecifiedMatching MONDO:0004135 subacute lymphocytic thyroiditis skos:exactMatch DOID:7187 subacute lymphocytic thyroiditis semapv:UnspecifiedMatching MONDO:0004135 subacute lymphocytic thyroiditis skos:exactMatch MEDGEN:266299 semapv:UnspecifiedMatching MONDO:0004135 subacute lymphocytic thyroiditis skos:exactMatch NCIT:C35829 Subacute Lymphocytic Thyroiditis semapv:UnspecifiedMatching MONDO:0004135 subacute lymphocytic thyroiditis skos:exactMatch SCTID:361126006 semapv:UnspecifiedMatching MONDO:0004135 subacute lymphocytic thyroiditis skos:exactMatch UMLS:C1306804 semapv:UnspecifiedMatching MONDO:0004136 ovarian endometrioid cystadenoma skos:exactMatch DOID:7191 ovarian endometrioid cystadenoma semapv:UnspecifiedMatching MONDO:0004136 ovarian endometrioid cystadenoma skos:exactMatch MEDGEN:309509 semapv:UnspecifiedMatching MONDO:0004136 ovarian endometrioid cystadenoma skos:exactMatch NCIT:C40075 Ovarian Endometrioid Cystadenoma semapv:UnspecifiedMatching MONDO:0004136 ovarian endometrioid cystadenoma skos:exactMatch UMLS:C1518713 semapv:UnspecifiedMatching MONDO:0004139 normocytic anemia skos:exactMatch DOID:720 normocytic anemia semapv:UnspecifiedMatching MONDO:0004139 normocytic anemia skos:exactMatch MEDGEN:39310 semapv:UnspecifiedMatching MONDO:0004139 normocytic anemia skos:exactMatch NCIT:C35142 Normocytic Anemia semapv:UnspecifiedMatching MONDO:0004139 normocytic anemia skos:exactMatch SCTID:300980002 semapv:UnspecifiedMatching MONDO:0004139 normocytic anemia skos:exactMatch UMLS:C0085577 semapv:UnspecifiedMatching MONDO:0004140 intermediate malignant teratoma skos:exactMatch DOID:7202 intermediate malignant teratoma semapv:UnspecifiedMatching MONDO:0004140 intermediate malignant teratoma skos:exactMatch MEDGEN:83161 semapv:UnspecifiedMatching MONDO:0004140 intermediate malignant teratoma skos:exactMatch NCIT:C4288 Intermediate Immature Teratoma semapv:UnspecifiedMatching MONDO:0004140 intermediate malignant teratoma skos:exactMatch UMLS:C0334522 semapv:UnspecifiedMatching MONDO:0004141 melanomatosis skos:exactMatch DOID:7206 melanomatosis semapv:UnspecifiedMatching MONDO:0004142 lung combined large cell neuroendocrine carcinoma skos:exactMatch DOID:7207 lung combined large cell neuroendocrine carcinoma semapv:UnspecifiedMatching MONDO:0004142 lung combined large cell neuroendocrine carcinoma skos:exactMatch MEDGEN:232386 semapv:UnspecifiedMatching MONDO:0004142 lung combined large cell neuroendocrine carcinoma skos:exactMatch NCIT:C7267 Combined Lung Large Cell Neuroendocrine Carcinoma semapv:UnspecifiedMatching MONDO:0004142 lung combined large cell neuroendocrine carcinoma skos:exactMatch UMLS:C1333122 semapv:UnspecifiedMatching MONDO:0004143 psammomatous meningioma skos:exactMatch DOID:7210 psammomatous meningioma semapv:UnspecifiedMatching MONDO:0004143 psammomatous meningioma skos:exactMatch MEDGEN:90815 semapv:UnspecifiedMatching MONDO:0004143 psammomatous meningioma skos:exactMatch NCIT:C4331 Psammomatous Meningioma semapv:UnspecifiedMatching MONDO:0004143 psammomatous meningioma skos:exactMatch UMLS:C0334607 semapv:UnspecifiedMatching MONDO:0004144 fibrous meningioma skos:exactMatch DOID:7211 fibrous meningioma semapv:UnspecifiedMatching MONDO:0004144 fibrous meningioma skos:exactMatch MEDGEN:137789 semapv:UnspecifiedMatching MONDO:0004144 fibrous meningioma skos:exactMatch NCIT:C4330 Fibrous Meningioma semapv:UnspecifiedMatching MONDO:0004144 fibrous meningioma skos:exactMatch UMLS:C0334606 semapv:UnspecifiedMatching MONDO:0004145 meningothelial meningioma skos:exactMatch DOID:7212 meningothelial meningioma semapv:UnspecifiedMatching MONDO:0004145 meningothelial meningioma skos:exactMatch MEDGEN:90814 semapv:UnspecifiedMatching MONDO:0004145 meningothelial meningioma skos:exactMatch NCIT:C4329 Meningothelial Meningioma semapv:UnspecifiedMatching MONDO:0004145 meningothelial meningioma skos:exactMatch UMLS:C0334605 semapv:UnspecifiedMatching MONDO:0004146 transitional meningioma skos:exactMatch DOID:7213 transitional meningioma semapv:UnspecifiedMatching MONDO:0004146 transitional meningioma skos:exactMatch MEDGEN:83174 semapv:UnspecifiedMatching MONDO:0004146 transitional meningioma skos:exactMatch NCIT:C4333 Transitional Meningioma semapv:UnspecifiedMatching MONDO:0004146 transitional meningioma skos:exactMatch UMLS:C0334611 semapv:UnspecifiedMatching MONDO:0004147 noninvasive malignant thymoma skos:exactMatch DOID:7214 noninvasive malignant thymoma semapv:UnspecifiedMatching MONDO:0004147 noninvasive malignant thymoma skos:exactMatch MEDGEN:78893 semapv:UnspecifiedMatching MONDO:0004147 noninvasive malignant thymoma skos:exactMatch NCIT:C9080 Noninvasive Malignant Thymoma semapv:UnspecifiedMatching MONDO:0004147 noninvasive malignant thymoma skos:exactMatch UMLS:C0278847 semapv:UnspecifiedMatching MONDO:0004148 gallbladder papillary neoplasm with an associated invasive carcinoma skos:exactMatch DOID:7221 gallbladder papillary carcinoma semapv:UnspecifiedMatching MONDO:0004148 gallbladder papillary neoplasm with an associated invasive carcinoma skos:exactMatch MEDGEN:232226 semapv:UnspecifiedMatching MONDO:0004148 gallbladder papillary neoplasm with an associated invasive carcinoma skos:exactMatch NCIT:C5743 Gallbladder Intracholecystic Papillary Neoplasm with an Associated Invasive Carcinoma semapv:UnspecifiedMatching MONDO:0004148 gallbladder papillary neoplasm with an associated invasive carcinoma skos:exactMatch UMLS:C1333753 semapv:UnspecifiedMatching MONDO:0004149 gallbladder pleomorphic giant cell adenocarcinoma skos:exactMatch DOID:7222 gallbladder pleomorphic giant cell adenocarcinoma semapv:UnspecifiedMatching MONDO:0004150 breast giant fibroadenoma skos:exactMatch DOID:7223 breast giant fibroadenoma semapv:UnspecifiedMatching MONDO:0004150 breast giant fibroadenoma skos:exactMatch MEDGEN:138039 semapv:UnspecifiedMatching MONDO:0004150 breast giant fibroadenoma skos:exactMatch NCIT:C4273 Breast Giant Fibroadenoma semapv:UnspecifiedMatching MONDO:0004150 breast giant fibroadenoma skos:exactMatch Orphanet:180267 Giant adenofibroma of the breast semapv:UnspecifiedMatching MONDO:0004150 breast giant fibroadenoma skos:exactMatch SCTID:254846003 semapv:UnspecifiedMatching MONDO:0004150 breast giant fibroadenoma skos:exactMatch UMLS:C0346157 semapv:UnspecifiedMatching MONDO:0004151 spinal meninges cancer skos:exactMatch DOID:7224 spinal meninges cancer semapv:UnspecifiedMatching MONDO:0004151 spinal meninges cancer skos:exactMatch ICD10CM:C70.1 Malignant neoplasm of spinal meninges semapv:UnspecifiedMatching MONDO:0004151 spinal meninges cancer skos:exactMatch MEDGEN:509351 semapv:UnspecifiedMatching MONDO:0004151 spinal meninges cancer skos:exactMatch NCIT:C194412 Malignant Neoplasm of Spinal Meninges semapv:UnspecifiedMatching MONDO:0004151 spinal meninges cancer skos:exactMatch SCTID:363476006 semapv:UnspecifiedMatching MONDO:0004151 spinal meninges cancer skos:exactMatch UMLS:C0153647 semapv:UnspecifiedMatching MONDO:0004151 spinal meninges cancer skos:exactMatch icd11.foundation:1701274048 Malignant neoplasm of spinal meninges semapv:UnspecifiedMatching MONDO:0004152 chronic lymphocytic leukemia/small lymphocytic lymphoma with immunoglobulin heavy chain variable-region gene somatic hypermutation skos:exactMatch DOID:7230 postgerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma semapv:UnspecifiedMatching MONDO:0004152 chronic lymphocytic leukemia/small lymphocytic lymphoma with immunoglobulin heavy chain variable-region gene somatic hypermutation skos:exactMatch MEDGEN:232076 semapv:UnspecifiedMatching MONDO:0004152 chronic lymphocytic leukemia/small lymphocytic lymphoma with immunoglobulin heavy chain variable-region gene somatic hypermutation skos:exactMatch NCIT:C37201 Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma with Immunoglobulin Heavy Chain Variable-Region Gene Somatic Hypermutation semapv:UnspecifiedMatching MONDO:0004152 chronic lymphocytic leukemia/small lymphocytic lymphoma with immunoglobulin heavy chain variable-region gene somatic hypermutation skos:exactMatch UMLS:C1333037 semapv:UnspecifiedMatching MONDO:0004153 childhood central nervous system embryonal carcinoma skos:exactMatch DOID:7231 childhood CNS embryonal cell carcinoma semapv:UnspecifiedMatching MONDO:0004153 childhood central nervous system embryonal carcinoma skos:exactMatch MEDGEN:277988 semapv:UnspecifiedMatching MONDO:0004153 childhood central nervous system embryonal carcinoma skos:exactMatch NCIT:C6208 Childhood Central Nervous System Embryonal Carcinoma semapv:UnspecifiedMatching MONDO:0004153 childhood central nervous system embryonal carcinoma skos:exactMatch UMLS:C1377605 semapv:UnspecifiedMatching MONDO:0004155 adult central nervous system embryonal carcinoma skos:exactMatch DOID:7233 adult central nervous system embryonal carcinoma semapv:UnspecifiedMatching MONDO:0004155 adult central nervous system embryonal carcinoma skos:exactMatch MEDGEN:234580 semapv:UnspecifiedMatching MONDO:0004155 adult central nervous system embryonal carcinoma skos:exactMatch NCIT:C5790 Adult Central Nervous System Embryonal Carcinoma semapv:UnspecifiedMatching MONDO:0004155 adult central nervous system embryonal carcinoma skos:exactMatch UMLS:C1370503 semapv:UnspecifiedMatching MONDO:0004156 pancreatic mucinous cystadenocarcinoma skos:exactMatch DOID:7234 mucinous cystadenocarcinoma of pancreas semapv:UnspecifiedMatching MONDO:0004156 pancreatic mucinous cystadenocarcinoma skos:exactMatch MEDGEN:1433902 semapv:UnspecifiedMatching MONDO:0004156 pancreatic mucinous cystadenocarcinoma skos:exactMatch UMLS:C2063873 semapv:UnspecifiedMatching MONDO:0004158 pancreatic mucinous-cystic neoplasm with an associated invasive carcinoma skos:exactMatch DOID:7236 pancreatic invasive mucinous cystadenocarcinoma semapv:UnspecifiedMatching MONDO:0004158 pancreatic mucinous-cystic neoplasm with an associated invasive carcinoma skos:exactMatch MEDGEN:309550 semapv:UnspecifiedMatching MONDO:0004158 pancreatic mucinous-cystic neoplasm with an associated invasive carcinoma skos:exactMatch NCIT:C41246 Pancreatic Mucinous-Cystic Neoplasm with an Associated Invasive Carcinoma semapv:UnspecifiedMatching MONDO:0004158 pancreatic mucinous-cystic neoplasm with an associated invasive carcinoma skos:exactMatch UMLS:C1518870 semapv:UnspecifiedMatching MONDO:0004159 pancreatic non-invasive mucinous cystadenocarcinoma skos:exactMatch DOID:7237 pancreatic non-invasive mucinous cystadenocarcinoma semapv:UnspecifiedMatching MONDO:0004159 pancreatic non-invasive mucinous cystadenocarcinoma skos:exactMatch MEDGEN:690092 semapv:UnspecifiedMatching MONDO:0004159 pancreatic non-invasive mucinous cystadenocarcinoma skos:exactMatch NCIT:C41245 Pancreatic Non-Invasive Mucinous Cystadenocarcinoma semapv:UnspecifiedMatching MONDO:0004159 pancreatic non-invasive mucinous cystadenocarcinoma skos:exactMatch UMLS:C1266078 semapv:UnspecifiedMatching MONDO:0004160 female stress incontinence skos:exactMatch DOID:724 female stress incontinence semapv:UnspecifiedMatching MONDO:0004160 female stress incontinence skos:exactMatch MEDGEN:21346 semapv:UnspecifiedMatching MONDO:0004160 female stress incontinence skos:exactMatch NCIT:C35042 Female Stress Incontinence semapv:UnspecifiedMatching MONDO:0004160 female stress incontinence skos:exactMatch UMLS:C0038437 semapv:UnspecifiedMatching MONDO:0004161 uterine corpus apoplectic leiomyoma skos:exactMatch DOID:7241 uterine corpus apoplectic leiomyoma semapv:UnspecifiedMatching MONDO:0004161 uterine corpus apoplectic leiomyoma skos:exactMatch MEDGEN:274364 semapv:UnspecifiedMatching MONDO:0004161 uterine corpus apoplectic leiomyoma skos:exactMatch NCIT:C40165 Uterine Corpus Apoplectic Leiomyoma semapv:UnspecifiedMatching MONDO:0004161 uterine corpus apoplectic leiomyoma skos:exactMatch UMLS:C1519852 semapv:UnspecifiedMatching MONDO:0004162 uterine corpus cellular leiomyoma skos:exactMatch DOID:7242 uterine corpus cellular leiomyoma semapv:UnspecifiedMatching MONDO:0004162 uterine corpus cellular leiomyoma skos:exactMatch MEDGEN:276938 semapv:UnspecifiedMatching MONDO:0004162 uterine corpus cellular leiomyoma skos:exactMatch NCIT:C40163 Uterine Corpus Cellular Leiomyoma semapv:UnspecifiedMatching MONDO:0004162 uterine corpus cellular leiomyoma skos:exactMatch UMLS:C1519845 semapv:UnspecifiedMatching MONDO:0004163 bladder urachal urothelial carcinoma skos:exactMatch DOID:7244 bladder urachal urothelial carcinoma semapv:UnspecifiedMatching MONDO:0004163 bladder urachal urothelial carcinoma skos:exactMatch MEDGEN:267744 semapv:UnspecifiedMatching MONDO:0004163 bladder urachal urothelial carcinoma skos:exactMatch NCIT:C39844 Urachal Urothelial Carcinoma semapv:UnspecifiedMatching MONDO:0004163 bladder urachal urothelial carcinoma skos:exactMatch UMLS:C1511207 semapv:UnspecifiedMatching MONDO:0004164 lymphoepithelioma-like acinar prostate adenocarcinoma skos:exactMatch DOID:7246 lymphoepithelioma-like acinar prostate adenocarcinoma semapv:UnspecifiedMatching MONDO:0004164 lymphoepithelioma-like acinar prostate adenocarcinoma skos:exactMatch MEDGEN:1834954 semapv:UnspecifiedMatching MONDO:0004164 lymphoepithelioma-like acinar prostate adenocarcinoma skos:exactMatch NCIT:C39885 Prostate Acinar Lymphoepithelioma-Like Adenocarcinoma semapv:UnspecifiedMatching MONDO:0004164 lymphoepithelioma-like acinar prostate adenocarcinoma skos:exactMatch UMLS:C5787176 semapv:UnspecifiedMatching MONDO:0004165 selective IgD deficiency disease skos:exactMatch DOID:7263 selective IgD deficiency disease semapv:UnspecifiedMatching MONDO:0004165 selective IgD deficiency disease skos:exactMatch MEDGEN:96021 semapv:UnspecifiedMatching MONDO:0004165 selective IgD deficiency disease skos:exactMatch NCIT:C27144 Selective IgD Immunodeficiency semapv:UnspecifiedMatching MONDO:0004165 selective IgD deficiency disease skos:exactMatch SCTID:234541006 semapv:UnspecifiedMatching MONDO:0004165 selective IgD deficiency disease skos:exactMatch UMLS:C0398695 semapv:UnspecifiedMatching MONDO:0004166 hereditary fallopian tube carcinoma skos:exactMatch DOID:7266 hereditary fallopian tube carcinoma semapv:UnspecifiedMatching MONDO:0004166 hereditary fallopian tube carcinoma skos:exactMatch MEDGEN:307556 semapv:UnspecifiedMatching MONDO:0004166 hereditary fallopian tube carcinoma skos:exactMatch NCIT:C40455 Hereditary Fallopian Tube Carcinoma semapv:UnspecifiedMatching MONDO:0004166 hereditary fallopian tube carcinoma skos:exactMatch UMLS:C1512418 semapv:UnspecifiedMatching MONDO:0004167 obsolete lung clear cell carcinoma skos:exactMatch DOID:7267 lung clear cell carcinoma semapv:UnspecifiedMatching MONDO:0004167 obsolete lung clear cell carcinoma skos:exactMatch SCTID:254630009 semapv:UnspecifiedMatching MONDO:0004168 cribriform variant testicular seminoma skos:exactMatch DOID:7269 cribriform variant testicular seminoma semapv:UnspecifiedMatching MONDO:0004168 cribriform variant testicular seminoma skos:exactMatch MEDGEN:308258 semapv:UnspecifiedMatching MONDO:0004168 cribriform variant testicular seminoma skos:exactMatch NCIT:C40957 Testicular Seminoma, Cribriform Variant semapv:UnspecifiedMatching MONDO:0004168 cribriform variant testicular seminoma skos:exactMatch UMLS:C1515292 semapv:UnspecifiedMatching MONDO:0004169 premenstrual tension skos:exactMatch DOID:727 premenstrual tension semapv:UnspecifiedMatching MONDO:0004169 premenstrual tension skos:exactMatch MEDGEN:87683 semapv:UnspecifiedMatching MONDO:0004169 premenstrual tension skos:exactMatch UMLS:C0376356 semapv:UnspecifiedMatching MONDO:0004169 premenstrual tension skos:exactMatch mesh:D011293 semapv:UnspecifiedMatching MONDO:0004170 nodular episcleritis skos:exactMatch DOID:728 nodular episcleritis semapv:UnspecifiedMatching MONDO:0004170 nodular episcleritis skos:exactMatch ICD10CM:H15.12 Nodular episcleritis semapv:UnspecifiedMatching MONDO:0004170 nodular episcleritis skos:exactMatch MEDGEN:509927 semapv:UnspecifiedMatching MONDO:0004170 nodular episcleritis skos:exactMatch SCTID:70558001 semapv:UnspecifiedMatching MONDO:0004170 nodular episcleritis skos:exactMatch UMLS:C0155352 semapv:UnspecifiedMatching MONDO:0004170 nodular episcleritis skos:exactMatch icd11.foundation:134477595 Nodular episcleritis semapv:UnspecifiedMatching MONDO:0004172 uterine corpus adenocarcinofibroma skos:exactMatch DOID:7281 uterine corpus adenocarcinofibroma semapv:UnspecifiedMatching MONDO:0004173 adenocarcinoma of skene gland origin skos:exactMatch DOID:7284 Skene gland carcinoma semapv:UnspecifiedMatching MONDO:0004173 adenocarcinoma of skene gland origin skos:exactMatch MEDGEN:282906 semapv:UnspecifiedMatching MONDO:0004173 adenocarcinoma of skene gland origin skos:exactMatch NCIT:C39863 Adenocarcinoma of Skene Gland Origin semapv:UnspecifiedMatching MONDO:0004173 adenocarcinoma of skene gland origin skos:exactMatch UMLS:C1527427 semapv:UnspecifiedMatching MONDO:0004174 secretory uterine corpus endometrioid adenocarcinoma skos:exactMatch DOID:7289 endometrial endometrioid adenocarcinoma, secretory variant semapv:UnspecifiedMatching MONDO:0004174 secretory uterine corpus endometrioid adenocarcinoma skos:exactMatch MEDGEN:690079 semapv:UnspecifiedMatching MONDO:0004174 secretory uterine corpus endometrioid adenocarcinoma skos:exactMatch NCIT:C27839 Endometrial Endometrioid Adenocarcinoma, Secretory Variant semapv:UnspecifiedMatching MONDO:0004174 secretory uterine corpus endometrioid adenocarcinoma skos:exactMatch UMLS:C1266057 semapv:UnspecifiedMatching MONDO:0004175 mucin-rich endometrial endometrioid adenocarcinoma skos:exactMatch DOID:7293 mucin-rich endometrial endometrioid adenocarcinoma semapv:UnspecifiedMatching MONDO:0004175 mucin-rich endometrial endometrioid adenocarcinoma skos:exactMatch MEDGEN:269340 semapv:UnspecifiedMatching MONDO:0004175 mucin-rich endometrial endometrioid adenocarcinoma skos:exactMatch NCIT:C8717 Mucin-Rich Endometrial Endometrioid Adenocarcinoma semapv:UnspecifiedMatching MONDO:0004175 mucin-rich endometrial endometrioid adenocarcinoma skos:exactMatch UMLS:C1513711 semapv:UnspecifiedMatching MONDO:0004176 childhood extraosseous osteosarcoma skos:exactMatch DOID:7297 childhood extraosseous osteosarcoma semapv:UnspecifiedMatching MONDO:0004176 childhood extraosseous osteosarcoma skos:exactMatch MEDGEN:232060 semapv:UnspecifiedMatching MONDO:0004176 childhood extraosseous osteosarcoma skos:exactMatch NCIT:C27376 Childhood Extraskeletal Osteosarcoma semapv:UnspecifiedMatching MONDO:0004176 childhood extraosseous osteosarcoma skos:exactMatch UMLS:C1332968 semapv:UnspecifiedMatching MONDO:0004177 benign urethral neoplasm skos:exactMatch DOID:730 urethral benign neoplasm semapv:UnspecifiedMatching MONDO:0004177 benign urethral neoplasm skos:exactMatch ICD10CM:D30.4 Benign neoplasm of urethra semapv:UnspecifiedMatching MONDO:0004177 benign urethral neoplasm skos:exactMatch MEDGEN:57812 semapv:UnspecifiedMatching MONDO:0004177 benign urethral neoplasm skos:exactMatch NCIT:C3619 Benign Urethral Neoplasm semapv:UnspecifiedMatching MONDO:0004177 benign urethral neoplasm skos:exactMatch SCTID:92466006 semapv:UnspecifiedMatching MONDO:0004177 benign urethral neoplasm skos:exactMatch UMLS:C0154019 semapv:UnspecifiedMatching MONDO:0004178 testicular yolk sac tumor, endodermal sinus pattern skos:exactMatch DOID:7302 endodermal sinus pattern testicular yolk sac tumor semapv:UnspecifiedMatching MONDO:0004178 testicular yolk sac tumor, endodermal sinus pattern skos:exactMatch MEDGEN:273636 semapv:UnspecifiedMatching MONDO:0004178 testicular yolk sac tumor, endodermal sinus pattern skos:exactMatch NCIT:C39927 Testicular Yolk Sac Tumor, Endodermal Sinus/Perivascular Pattern semapv:UnspecifiedMatching MONDO:0004178 testicular yolk sac tumor, endodermal sinus pattern skos:exactMatch UMLS:C1515303 semapv:UnspecifiedMatching MONDO:0004180 benign urinary system neoplasm skos:exactMatch DOID:731 urinary system benign neoplasm semapv:UnspecifiedMatching MONDO:0004180 benign urinary system neoplasm skos:exactMatch MEDGEN:146348 semapv:UnspecifiedMatching MONDO:0004180 benign urinary system neoplasm skos:exactMatch NCIT:C192667 Benign Urinary Tract Neoplasm semapv:UnspecifiedMatching MONDO:0004180 benign urinary system neoplasm skos:exactMatch NCIT:C4893 Benign Urinary System Neoplasm semapv:UnspecifiedMatching MONDO:0004180 benign urinary system neoplasm skos:exactMatch SCTID:92468007 semapv:UnspecifiedMatching MONDO:0004180 benign urinary system neoplasm skos:exactMatch UMLS:C0686167 semapv:UnspecifiedMatching MONDO:0004180 benign urinary system neoplasm skos:exactMatch mesh:D014571 semapv:UnspecifiedMatching MONDO:0004181 breast adenomyoepithelial adenosis skos:exactMatch DOID:7312 breast adenomyoepithelial adenosis semapv:UnspecifiedMatching MONDO:0004181 breast adenomyoepithelial adenosis skos:exactMatch MEDGEN:267759 semapv:UnspecifiedMatching MONDO:0004181 breast adenomyoepithelial adenosis skos:exactMatch NCIT:C40391 Breast Adenomyoepithelial Adenosis semapv:UnspecifiedMatching MONDO:0004181 breast adenomyoepithelial adenosis skos:exactMatch UMLS:C1511283 semapv:UnspecifiedMatching MONDO:0004182 stage IVb bladder cancer skos:exactMatch DOID:7315 Jewett-Marshall bladder cancer semapv:UnspecifiedMatching MONDO:0004182 stage IVb bladder cancer skos:exactMatch MEDGEN:277737 semapv:UnspecifiedMatching MONDO:0004182 stage IVb bladder cancer skos:exactMatch NCIT:C9368 Stage IVB Bladder Cancer semapv:UnspecifiedMatching MONDO:0004182 stage IVb bladder cancer skos:exactMatch UMLS:C1336362 semapv:UnspecifiedMatching MONDO:0004183 axonal neuropathy skos:exactMatch DOID:7319 axonal neuropathy semapv:UnspecifiedMatching MONDO:0004183 axonal neuropathy skos:exactMatch MEDGEN:266071 semapv:UnspecifiedMatching MONDO:0004183 axonal neuropathy skos:exactMatch NCIT:C27301 Axonal Neuropathy semapv:UnspecifiedMatching MONDO:0004183 axonal neuropathy skos:exactMatch SCTID:60703000 semapv:UnspecifiedMatching MONDO:0004183 axonal neuropathy skos:exactMatch UMLS:C1263857 semapv:UnspecifiedMatching MONDO:0004184 urethral disorder skos:exactMatch DOID:732 urethral disease semapv:UnspecifiedMatching MONDO:0004184 urethral disorder skos:exactMatch EFO:0009689 semapv:UnspecifiedMatching MONDO:0004184 urethral disorder skos:exactMatch MEDGEN:22569 semapv:UnspecifiedMatching MONDO:0004184 urethral disorder skos:exactMatch NCIT:C26903 Urethra Disorder semapv:UnspecifiedMatching MONDO:0004184 urethral disorder skos:exactMatch SCTID:4985009 semapv:UnspecifiedMatching MONDO:0004184 urethral disorder skos:exactMatch UMLS:C0041969 semapv:UnspecifiedMatching MONDO:0004184 urethral disorder skos:exactMatch mesh:D014522 semapv:UnspecifiedMatching MONDO:0004185 ovarian serous cystadenofibroma skos:exactMatch DOID:7320 ovarian serous cystadenofibroma semapv:UnspecifiedMatching MONDO:0004185 ovarian serous cystadenofibroma skos:exactMatch MEDGEN:167919 semapv:UnspecifiedMatching MONDO:0004185 ovarian serous cystadenofibroma skos:exactMatch NCIT:C40032 Ovarian Serous Cystadenofibroma semapv:UnspecifiedMatching MONDO:0004185 ovarian serous cystadenofibroma skos:exactMatch UMLS:C0877572 semapv:UnspecifiedMatching MONDO:0004186 cranial nodular fasciitis skos:exactMatch DOID:7326 cranial pseudosarcomatous fasciitis semapv:UnspecifiedMatching MONDO:0004186 cranial nodular fasciitis skos:exactMatch MEDGEN:272511 semapv:UnspecifiedMatching MONDO:0004186 cranial nodular fasciitis skos:exactMatch NCIT:C27248 Cranial Nodular Fasciitis semapv:UnspecifiedMatching MONDO:0004186 cranial nodular fasciitis skos:exactMatch UMLS:C1333162 semapv:UnspecifiedMatching MONDO:0004187 nodular fasciitis skos:exactMatch DOID:7327 pseudosarcomatous fibromatosis semapv:UnspecifiedMatching MONDO:0004187 nodular fasciitis skos:exactMatch ICD10CM:M72.4 Pseudosarcomatous fibromatosis semapv:UnspecifiedMatching MONDO:0004187 nodular fasciitis skos:exactMatch MEDGEN:96076 semapv:UnspecifiedMatching MONDO:0004187 nodular fasciitis skos:exactMatch NCIT:C3827 Nodular Fasciitis semapv:UnspecifiedMatching MONDO:0004187 nodular fasciitis skos:exactMatch Orphanet:477742 Nodular fasciitis semapv:UnspecifiedMatching MONDO:0004187 nodular fasciitis skos:exactMatch SCTID:400138001 semapv:UnspecifiedMatching MONDO:0004187 nodular fasciitis skos:exactMatch UMLS:C0410005 semapv:UnspecifiedMatching MONDO:0004187 nodular fasciitis skos:exactMatch icd11.foundation:789101380 Nodular fasciitis semapv:UnspecifiedMatching MONDO:0004188 iris spindle cell melanoma skos:exactMatch DOID:7328 iris spindle cell melanoma semapv:UnspecifiedMatching MONDO:0004188 iris spindle cell melanoma skos:exactMatch MEDGEN:232672 semapv:UnspecifiedMatching MONDO:0004188 iris spindle cell melanoma skos:exactMatch NCIT:C6098 Iris Spindle Cell Melanoma semapv:UnspecifiedMatching MONDO:0004188 iris spindle cell melanoma skos:exactMatch UMLS:C1334287 semapv:UnspecifiedMatching MONDO:0004189 esophageal tuberculosis skos:exactMatch DOID:7332 esophageal tuberculosis semapv:UnspecifiedMatching MONDO:0004189 esophageal tuberculosis skos:exactMatch MEDGEN:509082 semapv:UnspecifiedMatching MONDO:0004189 esophageal tuberculosis skos:exactMatch SCTID:15284007 semapv:UnspecifiedMatching MONDO:0004189 esophageal tuberculosis skos:exactMatch UMLS:C0152902 semapv:UnspecifiedMatching MONDO:0004189 esophageal tuberculosis skos:exactMatch icd11.foundation:957834829 Tuberculous oesophagitis semapv:UnspecifiedMatching MONDO:0004190 nephrogenic adenoma of urinary bladder skos:exactMatch DOID:7333 nephrogenic adenoma of urinary bladder semapv:UnspecifiedMatching MONDO:0004190 nephrogenic adenoma of urinary bladder skos:exactMatch MEDGEN:234976 semapv:UnspecifiedMatching MONDO:0004190 nephrogenic adenoma of urinary bladder skos:exactMatch NCIT:C7415 Bladder Nephrogenic Adenoma semapv:UnspecifiedMatching MONDO:0004190 nephrogenic adenoma of urinary bladder skos:exactMatch UMLS:C1336892 semapv:UnspecifiedMatching MONDO:0004191 nephrogenic adenoma skos:exactMatch DOID:7334 nephrogenic adenoma semapv:UnspecifiedMatching MONDO:0004191 nephrogenic adenoma skos:exactMatch MEDGEN:452429 semapv:UnspecifiedMatching MONDO:0004191 nephrogenic adenoma skos:exactMatch NCIT:C7413 Nephrogenic Adenoma semapv:UnspecifiedMatching MONDO:0004191 nephrogenic adenoma skos:exactMatch UMLS:C0334039 semapv:UnspecifiedMatching MONDO:0004192 urethra cancer skos:exactMatch DOID:734 urethra cancer semapv:UnspecifiedMatching MONDO:0004192 urethra cancer skos:exactMatch ICD10CM:C68.0 Malignant neoplasm of urethra semapv:UnspecifiedMatching MONDO:0004192 urethra cancer skos:exactMatch MEDGEN:57565 semapv:UnspecifiedMatching MONDO:0004192 urethra cancer skos:exactMatch NCIT:C7507 Malignant Urethral Neoplasm semapv:UnspecifiedMatching MONDO:0004192 urethra cancer skos:exactMatch SCTID:363459007 semapv:UnspecifiedMatching MONDO:0004192 urethra cancer skos:exactMatch UMLS:C0153620 semapv:UnspecifiedMatching MONDO:0004192 urethra cancer skos:exactMatch icd11.foundation:1707814375 Malignant neoplasm of urethra semapv:UnspecifiedMatching MONDO:0004193 pediatric ovarian dysgerminoma skos:exactMatch DOID:7340 childhood ovarian dysgerminoma semapv:UnspecifiedMatching MONDO:0004193 pediatric ovarian dysgerminoma skos:exactMatch MEDGEN:272465 semapv:UnspecifiedMatching MONDO:0004193 pediatric ovarian dysgerminoma skos:exactMatch NCIT:C6550 Childhood Ovarian Dysgerminoma semapv:UnspecifiedMatching MONDO:0004193 pediatric ovarian dysgerminoma skos:exactMatch UMLS:C1332988 semapv:UnspecifiedMatching MONDO:0004194 ovarian stromal hyperthecosis skos:exactMatch DOID:7347 ovarian stromal hyperthecosis semapv:UnspecifiedMatching MONDO:0004194 ovarian stromal hyperthecosis skos:exactMatch MEDGEN:309519 semapv:UnspecifiedMatching MONDO:0004194 ovarian stromal hyperthecosis skos:exactMatch NCIT:C40446 Ovarian Stromal Hyperthecosis semapv:UnspecifiedMatching MONDO:0004194 ovarian stromal hyperthecosis skos:exactMatch UMLS:C1518743 semapv:UnspecifiedMatching MONDO:0004195 thymic dysplasia skos:exactMatch DOID:7350 thymic dysplasia semapv:UnspecifiedMatching MONDO:0004195 thymic dysplasia skos:exactMatch MEDGEN:231314 semapv:UnspecifiedMatching MONDO:0004195 thymic dysplasia skos:exactMatch NCIT:C27802 Thymic Dysplasia semapv:UnspecifiedMatching MONDO:0004195 thymic dysplasia skos:exactMatch UMLS:C1331541 semapv:UnspecifiedMatching MONDO:0004196 rectal sarcomatoid carcinoma skos:exactMatch DOID:7356 rectum sarcomatoid carcinoma semapv:UnspecifiedMatching MONDO:0004196 rectal sarcomatoid carcinoma skos:exactMatch MEDGEN:235533 semapv:UnspecifiedMatching MONDO:0004196 rectal sarcomatoid carcinoma skos:exactMatch NCIT:C5556 Rectal Sarcomatoid Carcinoma semapv:UnspecifiedMatching MONDO:0004196 rectal sarcomatoid carcinoma skos:exactMatch UMLS:C1335689 semapv:UnspecifiedMatching MONDO:0004197 male urethral cancer skos:exactMatch DOID:736 male urethral cancer semapv:UnspecifiedMatching MONDO:0004197 male urethral cancer skos:exactMatch MEDGEN:273546 semapv:UnspecifiedMatching MONDO:0004197 male urethral cancer skos:exactMatch NCIT:C39867 Male Urethral Malignant Neoplasm semapv:UnspecifiedMatching MONDO:0004197 male urethral cancer skos:exactMatch UMLS:C1518164 semapv:UnspecifiedMatching MONDO:0004198 testicular yolk sac tumor, solid pattern skos:exactMatch DOID:7360 solid pattern testicular yolk sac tumor semapv:UnspecifiedMatching MONDO:0004198 testicular yolk sac tumor, solid pattern skos:exactMatch MEDGEN:308263 semapv:UnspecifiedMatching MONDO:0004198 testicular yolk sac tumor, solid pattern skos:exactMatch NCIT:C39925 Testicular Yolk Sac Tumor, Solid Pattern semapv:UnspecifiedMatching MONDO:0004198 testicular yolk sac tumor, solid pattern skos:exactMatch UMLS:C1515312 semapv:UnspecifiedMatching MONDO:0004199 vulvar keratinizing squamous cell carcinoma skos:exactMatch DOID:7363 vulvar keratinizing squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0004199 vulvar keratinizing squamous cell carcinoma skos:exactMatch MEDGEN:378346 semapv:UnspecifiedMatching MONDO:0004199 vulvar keratinizing squamous cell carcinoma skos:exactMatch NCIT:C40284 Vulvar Keratinizing Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0004199 vulvar keratinizing squamous cell carcinoma skos:exactMatch UMLS:C2109334 semapv:UnspecifiedMatching MONDO:0004200 superficial urinary bladder carcinoma skos:exactMatch DOID:7371 superficial urinary bladder cancer semapv:UnspecifiedMatching MONDO:0004200 superficial urinary bladder carcinoma skos:exactMatch MEDGEN:234371 semapv:UnspecifiedMatching MONDO:0004200 superficial urinary bladder carcinoma skos:exactMatch NCIT:C27474 Non-Muscle Invasive Bladder Carcinoma semapv:UnspecifiedMatching MONDO:0004200 superficial urinary bladder carcinoma skos:exactMatch SCTID:425231005 semapv:UnspecifiedMatching MONDO:0004200 superficial urinary bladder carcinoma skos:exactMatch UMLS:C1336527 semapv:UnspecifiedMatching MONDO:0004201 pituitary hypoplasia skos:exactMatch DOID:7378 pituitary hypoplasia semapv:UnspecifiedMatching MONDO:0004201 pituitary hypoplasia skos:exactMatch MEDGEN:215300 semapv:UnspecifiedMatching MONDO:0004201 pituitary hypoplasia skos:exactMatch NCIT:C27343 Pituitary Gland Hypoplasia semapv:UnspecifiedMatching MONDO:0004201 pituitary hypoplasia skos:exactMatch UMLS:C0948740 semapv:UnspecifiedMatching MONDO:0004202 adrenal medulla carcinoma skos:exactMatch DOID:7379 adrenal medulla carcinoma semapv:UnspecifiedMatching MONDO:0004203 female urethral cancer skos:exactMatch DOID:738 female urethral cancer semapv:UnspecifiedMatching MONDO:0004203 female urethral cancer skos:exactMatch MEDGEN:273303 semapv:UnspecifiedMatching MONDO:0004203 female urethral cancer skos:exactMatch NCIT:C39866 Female Urethral Malignant Neoplasm semapv:UnspecifiedMatching MONDO:0004203 female urethral cancer skos:exactMatch UMLS:C1517154 semapv:UnspecifiedMatching MONDO:0004204 squamous cell skin papilloma skos:exactMatch DOID:7380 squamous cell papilloma of skin semapv:UnspecifiedMatching MONDO:0004204 squamous cell skin papilloma skos:exactMatch MEDGEN:83397 semapv:UnspecifiedMatching MONDO:0004204 squamous cell skin papilloma skos:exactMatch SCTID:254661000 semapv:UnspecifiedMatching MONDO:0004204 squamous cell skin papilloma skos:exactMatch UMLS:C0345983 semapv:UnspecifiedMatching MONDO:0004205 lymphohistiocytoid mesothelioma skos:exactMatch DOID:7381 lymphohistiocytoid mesothelioma semapv:UnspecifiedMatching MONDO:0004205 lymphohistiocytoid mesothelioma skos:exactMatch MEDGEN:235269 semapv:UnspecifiedMatching MONDO:0004205 lymphohistiocytoid mesothelioma skos:exactMatch NCIT:C27779 Lymphohistiocytoid Mesothelioma semapv:UnspecifiedMatching MONDO:0004205 lymphohistiocytoid mesothelioma skos:exactMatch UMLS:C1334464 semapv:UnspecifiedMatching MONDO:0004206 pulmonary vein leiomyosarcoma skos:exactMatch DOID:7388 pulmonary vein leiomyosarcoma semapv:UnspecifiedMatching MONDO:0004206 pulmonary vein leiomyosarcoma skos:exactMatch MEDGEN:235513 semapv:UnspecifiedMatching MONDO:0004206 pulmonary vein leiomyosarcoma skos:exactMatch NCIT:C5374 Pulmonary Vein Leiomyosarcoma semapv:UnspecifiedMatching MONDO:0004206 pulmonary vein leiomyosarcoma skos:exactMatch UMLS:C1335575 semapv:UnspecifiedMatching MONDO:0004207 pulmonary artery leiomyosarcoma skos:exactMatch DOID:7389 pulmonary artery leiomyosarcoma semapv:UnspecifiedMatching MONDO:0004207 pulmonary artery leiomyosarcoma skos:exactMatch MEDGEN:233372 semapv:UnspecifiedMatching MONDO:0004207 pulmonary artery leiomyosarcoma skos:exactMatch NCIT:C5373 Pulmonary Artery Leiomyosarcoma semapv:UnspecifiedMatching MONDO:0004207 pulmonary artery leiomyosarcoma skos:exactMatch UMLS:C1335572 semapv:UnspecifiedMatching MONDO:0004208 superior vena cava leiomyosarcoma skos:exactMatch DOID:7390 superior vena cava leiomyosarcoma semapv:UnspecifiedMatching MONDO:0004208 superior vena cava leiomyosarcoma skos:exactMatch MEDGEN:236963 semapv:UnspecifiedMatching MONDO:0004208 superior vena cava leiomyosarcoma skos:exactMatch NCIT:C6745 Superior Vena Cava Leiomyosarcoma semapv:UnspecifiedMatching MONDO:0004208 superior vena cava leiomyosarcoma skos:exactMatch UMLS:C1336531 semapv:UnspecifiedMatching MONDO:0004209 cerebral primitive neuroectodermal tumor skos:exactMatch DOID:7398 cerebral primitive neuroectodermal tumor semapv:UnspecifiedMatching MONDO:0004209 cerebral primitive neuroectodermal tumor skos:exactMatch MEDGEN:155905 semapv:UnspecifiedMatching MONDO:0004209 cerebral primitive neuroectodermal tumor skos:exactMatch NCIT:C4970 Cerebral Embryonal Tumor, Not Otherwise Specified semapv:UnspecifiedMatching MONDO:0004209 cerebral primitive neuroectodermal tumor skos:exactMatch UMLS:C0751675 semapv:UnspecifiedMatching MONDO:0004210 colonic L-cell glucagon-like peptide producing tumor skos:exactMatch DOID:7401 colonic L-cell glucagon-like peptide producing tumor semapv:UnspecifiedMatching MONDO:0004210 colonic L-cell glucagon-like peptide producing tumor skos:exactMatch MEDGEN:475772 semapv:UnspecifiedMatching MONDO:0004210 colonic L-cell glucagon-like peptide producing tumor skos:exactMatch NCIT:C27447 Colon L-Cell Glucagon-Like Peptide-Producing Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO:0004210 colonic L-cell glucagon-like peptide producing tumor skos:exactMatch UMLS:C3274139 semapv:UnspecifiedMatching MONDO:0004211 L-cell glucagon-like peptide-producing neuroendocrine tumor skos:exactMatch DOID:7402 L-cell glucagon-like peptide producing tumor semapv:UnspecifiedMatching MONDO:0004211 L-cell glucagon-like peptide-producing neuroendocrine tumor skos:exactMatch MEDGEN:475773 semapv:UnspecifiedMatching MONDO:0004211 L-cell glucagon-like peptide-producing neuroendocrine tumor skos:exactMatch NCIT:C27448 L-Cell Glucagon-Like Peptide-Producing Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO:0004211 L-cell glucagon-like peptide-producing neuroendocrine tumor skos:exactMatch UMLS:C3274140 semapv:UnspecifiedMatching MONDO:0004212 vulvar keratoacanthoma-like carcinoma skos:exactMatch DOID:7408 vulvar keratoacanthoma semapv:UnspecifiedMatching MONDO:0004213 vulvar non-keratinizing squamous cell carcinoma skos:exactMatch DOID:7409 vulvar non-keratinizing squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0004213 vulvar non-keratinizing squamous cell carcinoma skos:exactMatch MEDGEN:311488 semapv:UnspecifiedMatching MONDO:0004213 vulvar non-keratinizing squamous cell carcinoma skos:exactMatch NCIT:C40285 Vulvar Non-Keratinizing Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0004213 vulvar non-keratinizing squamous cell carcinoma skos:exactMatch UMLS:C1520092 semapv:UnspecifiedMatching MONDO:0004214 ovarian endometrioid cystadenofibroma skos:exactMatch DOID:7411 ovarian endometrioid cystadenofibroma semapv:UnspecifiedMatching MONDO:0004214 ovarian endometrioid cystadenofibroma skos:exactMatch MEDGEN:233272 semapv:UnspecifiedMatching MONDO:0004214 ovarian endometrioid cystadenofibroma skos:exactMatch NCIT:C27288 Ovarian Endometrioid Cystadenofibroma semapv:UnspecifiedMatching MONDO:0004214 ovarian endometrioid cystadenofibroma skos:exactMatch UMLS:C1335158 semapv:UnspecifiedMatching MONDO:0004215 cutaneous anthrax skos:exactMatch DOID:7426 cutaneous anthrax semapv:UnspecifiedMatching MONDO:0004215 cutaneous anthrax skos:exactMatch ICD10CM:A22.0 Cutaneous anthrax semapv:UnspecifiedMatching MONDO:0004215 cutaneous anthrax skos:exactMatch MEDGEN:1959 semapv:UnspecifiedMatching MONDO:0004215 cutaneous anthrax skos:exactMatch SCTID:84980006 semapv:UnspecifiedMatching MONDO:0004215 cutaneous anthrax skos:exactMatch UMLS:C0003177 semapv:UnspecifiedMatching MONDO:0004215 cutaneous anthrax skos:exactMatch icd11.foundation:2057984300 Cutaneous anthrax semapv:UnspecifiedMatching MONDO:0004215 cutaneous anthrax skos:exactMatch mesh:C531621 semapv:UnspecifiedMatching MONDO:0004216 pineal region germinoma skos:exactMatch DOID:7428 pineal region germinoma semapv:UnspecifiedMatching MONDO:0004216 pineal region germinoma skos:exactMatch MEDGEN:208928 semapv:UnspecifiedMatching MONDO:0004216 pineal region germinoma skos:exactMatch NCIT:C8712 Pineal Region Germinoma semapv:UnspecifiedMatching MONDO:0004216 pineal region germinoma skos:exactMatch Orphanet:91352 Germinoma of the central nervous system semapv:UnspecifiedMatching MONDO:0004216 pineal region germinoma skos:exactMatch UMLS:C0854912 semapv:UnspecifiedMatching MONDO:0004217 childhood brain germinoma skos:exactMatch DOID:7429 childhood brain germinoma semapv:UnspecifiedMatching MONDO:0004217 childhood brain germinoma skos:exactMatch MEDGEN:272458 semapv:UnspecifiedMatching MONDO:0004217 childhood brain germinoma skos:exactMatch NCIT:C6207 Childhood Brain Germinoma semapv:UnspecifiedMatching MONDO:0004217 childhood brain germinoma skos:exactMatch UMLS:C1332948 semapv:UnspecifiedMatching MONDO:0004218 childhood germ cell brain tumor skos:exactMatch DOID:7430 childhood germ cell brain tumor semapv:UnspecifiedMatching MONDO:0004218 childhood germ cell brain tumor skos:exactMatch MEDGEN:277987 semapv:UnspecifiedMatching MONDO:0004218 childhood germ cell brain tumor skos:exactMatch NCIT:C5795 Childhood Brain Germ Cell Tumor semapv:UnspecifiedMatching MONDO:0004218 childhood germ cell brain tumor skos:exactMatch UMLS:C1377598 semapv:UnspecifiedMatching MONDO:0004219 polyvesicular vitelline pattern testicular yolk sac tumor skos:exactMatch DOID:7435 polyvesicular vitelline pattern testicular yolk sac tumor semapv:UnspecifiedMatching MONDO:0004219 polyvesicular vitelline pattern testicular yolk sac tumor skos:exactMatch MEDGEN:273638 semapv:UnspecifiedMatching MONDO:0004219 polyvesicular vitelline pattern testicular yolk sac tumor skos:exactMatch NCIT:C39930 Testicular Yolk Sac Tumor, Polyvesicular Vitelline Pattern semapv:UnspecifiedMatching MONDO:0004219 polyvesicular vitelline pattern testicular yolk sac tumor skos:exactMatch UMLS:C1515311 semapv:UnspecifiedMatching MONDO:0004220 endometrial endometrioid adenocarcinoma with spindled epithelial cells skos:exactMatch DOID:7436 sarcomatoid uterine corpus endometrioid adenocarcinoma semapv:UnspecifiedMatching MONDO:0004220 endometrial endometrioid adenocarcinoma with spindled epithelial cells skos:exactMatch MEDGEN:234979 semapv:UnspecifiedMatching MONDO:0004220 endometrial endometrioid adenocarcinoma with spindled epithelial cells skos:exactMatch NCIT:C27850 Endometrial Endometrioid Adenocarcinoma with Spindled Epithelial Cells semapv:UnspecifiedMatching MONDO:0004220 endometrial endometrioid adenocarcinoma with spindled epithelial cells skos:exactMatch UMLS:C1336913 semapv:UnspecifiedMatching MONDO:0004221 uterine corpus perivascular epithelioid cell tumor skos:exactMatch DOID:7437 uterus perivascular epithelioid cell tumor semapv:UnspecifiedMatching MONDO:0004221 uterine corpus perivascular epithelioid cell tumor skos:exactMatch MEDGEN:276940 semapv:UnspecifiedMatching MONDO:0004221 uterine corpus perivascular epithelioid cell tumor skos:exactMatch NCIT:C40180 Uterine Corpus PEComa semapv:UnspecifiedMatching MONDO:0004221 uterine corpus perivascular epithelioid cell tumor skos:exactMatch UMLS:C1519862 semapv:UnspecifiedMatching MONDO:0004222 ovarian clear cell cystadenocarcinoma skos:exactMatch DOID:7438 ovarian clear cell cystadenocarcinoma semapv:UnspecifiedMatching MONDO:0004222 ovarian clear cell cystadenocarcinoma skos:exactMatch MEDGEN:76012 semapv:UnspecifiedMatching MONDO:0004222 ovarian clear cell cystadenocarcinoma skos:exactMatch NCIT:C7980 Ovarian Clear Cell Cystadenocarcinoma semapv:UnspecifiedMatching MONDO:0004222 ovarian clear cell cystadenocarcinoma skos:exactMatch UMLS:C0279667 semapv:UnspecifiedMatching MONDO:0004223 polyp of middle ear skos:exactMatch DOID:7439 polyp of middle ear semapv:UnspecifiedMatching MONDO:0004223 polyp of middle ear skos:exactMatch ICD10CM:H74.4 Polyp of middle ear semapv:UnspecifiedMatching MONDO:0004223 polyp of middle ear skos:exactMatch MEDGEN:124403 semapv:UnspecifiedMatching MONDO:0004223 polyp of middle ear skos:exactMatch NCIT:C6933 Middle Ear Polyp semapv:UnspecifiedMatching MONDO:0004223 polyp of middle ear skos:exactMatch SCTID:73103007 semapv:UnspecifiedMatching MONDO:0004223 polyp of middle ear skos:exactMatch UMLS:C0271466 semapv:UnspecifiedMatching MONDO:0004223 polyp of middle ear skos:exactMatch icd11.foundation:116272899 Polyp of middle ear semapv:UnspecifiedMatching MONDO:0004224 chronic metabolic polyneuropathy skos:exactMatch DOID:7441 chronic metabolic polyneuropathy semapv:UnspecifiedMatching MONDO:0004224 chronic metabolic polyneuropathy skos:exactMatch MEDGEN:272482 semapv:UnspecifiedMatching MONDO:0004224 chronic metabolic polyneuropathy skos:exactMatch NCIT:C35602 Chronic Metabolic Polyneuropathy semapv:UnspecifiedMatching MONDO:0004224 chronic metabolic polyneuropathy skos:exactMatch UMLS:C1333042 semapv:UnspecifiedMatching MONDO:0004225 monoclonal gammopathy of uncertain significance skos:exactMatch DOID:7442 monoclonal gammopathy of uncertain significance semapv:UnspecifiedMatching MONDO:0004225 monoclonal gammopathy of uncertain significance skos:exactMatch MEDGEN:44485 semapv:UnspecifiedMatching MONDO:0004225 monoclonal gammopathy of uncertain significance skos:exactMatch NCIT:C3996 Monoclonal Gammopathy of Undetermined Significance semapv:UnspecifiedMatching MONDO:0004225 monoclonal gammopathy of uncertain significance skos:exactMatch SCTID:277577000 semapv:UnspecifiedMatching MONDO:0004225 monoclonal gammopathy of uncertain significance skos:exactMatch SCTID:58648008 semapv:UnspecifiedMatching MONDO:0004225 monoclonal gammopathy of uncertain significance skos:exactMatch UMLS:C0026470 semapv:UnspecifiedMatching MONDO:0004225 monoclonal gammopathy of uncertain significance skos:exactMatch mesh:D008998 semapv:UnspecifiedMatching MONDO:0004226 diffuse intraductal papillomatosis skos:exactMatch MEDGEN:235123 semapv:UnspecifiedMatching MONDO:0004226 diffuse intraductal papillomatosis skos:exactMatch UMLS:C1377912 semapv:UnspecifiedMatching MONDO:0004227 epididymal adenomatoid tumor skos:exactMatch DOID:745 epididymis adenomatoid tumor semapv:UnspecifiedMatching MONDO:0004227 epididymal adenomatoid tumor skos:exactMatch MEDGEN:232460 semapv:UnspecifiedMatching MONDO:0004227 epididymal adenomatoid tumor skos:exactMatch NCIT:C6382 Epididymal Adenomatoid Tumor semapv:UnspecifiedMatching MONDO:0004227 epididymal adenomatoid tumor skos:exactMatch SCTID:449052009 semapv:UnspecifiedMatching MONDO:0004227 epididymal adenomatoid tumor skos:exactMatch UMLS:C1333415 semapv:UnspecifiedMatching MONDO:0004229 acantholytic variant squamous cell breast carcinoma skos:exactMatch DOID:7459 acantholytic variant squamous cell breast carcinoma semapv:UnspecifiedMatching MONDO:0004229 acantholytic variant squamous cell breast carcinoma skos:exactMatch MEDGEN:274268 semapv:UnspecifiedMatching MONDO:0004229 acantholytic variant squamous cell breast carcinoma skos:exactMatch NCIT:C40359 Breast Acantholytic Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0004229 acantholytic variant squamous cell breast carcinoma skos:exactMatch UMLS:C1519485 semapv:UnspecifiedMatching MONDO:0004230 adenomatoid tumor skos:exactMatch DOID:746 adenomatoid tumor semapv:UnspecifiedMatching MONDO:0004230 adenomatoid tumor skos:exactMatch MEDGEN:60207 semapv:UnspecifiedMatching MONDO:0004230 adenomatoid tumor skos:exactMatch NCIT:C3762 Adenomatoid Tumor semapv:UnspecifiedMatching MONDO:0004230 adenomatoid tumor skos:exactMatch UMLS:C0206675 semapv:UnspecifiedMatching MONDO:0004230 adenomatoid tumor skos:exactMatch mesh:D018254 semapv:UnspecifiedMatching MONDO:0004231 spindle cell variant squamous cell breast carcinoma skos:exactMatch DOID:7460 spindle cell variant squamous cell breast carcinoma semapv:UnspecifiedMatching MONDO:0004231 spindle cell variant squamous cell breast carcinoma skos:exactMatch MEDGEN:274270 semapv:UnspecifiedMatching MONDO:0004231 spindle cell variant squamous cell breast carcinoma skos:exactMatch NCIT:C40358 Breast Squamous Cell Carcinoma, Spindle Cell Variant semapv:UnspecifiedMatching MONDO:0004231 spindle cell variant squamous cell breast carcinoma skos:exactMatch UMLS:C1519487 semapv:UnspecifiedMatching MONDO:0004232 large cell keratinizing variant squamous cell breast carcinoma skos:exactMatch DOID:7461 large cell keratinizing variant squamous cell breast carcinoma semapv:UnspecifiedMatching MONDO:0004232 large cell keratinizing variant squamous cell breast carcinoma skos:exactMatch MEDGEN:274269 semapv:UnspecifiedMatching MONDO:0004232 large cell keratinizing variant squamous cell breast carcinoma skos:exactMatch NCIT:C40357 Breast Squamous Cell Carcinoma, Large Cell Keratinizing Variant semapv:UnspecifiedMatching MONDO:0004232 large cell keratinizing variant squamous cell breast carcinoma skos:exactMatch UMLS:C1519486 semapv:UnspecifiedMatching MONDO:0004233 childhood pleomorphic rhabdomyosarcoma skos:exactMatch DOID:7463 childhood pleomorphic rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0004233 childhood pleomorphic rhabdomyosarcoma skos:exactMatch MEDGEN:76002 semapv:UnspecifiedMatching MONDO:0004233 childhood pleomorphic rhabdomyosarcoma skos:exactMatch NCIT:C7959 Childhood Pleomorphic Rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0004233 childhood pleomorphic rhabdomyosarcoma skos:exactMatch UMLS:C0279614 semapv:UnspecifiedMatching MONDO:0004234 chronic lymphoproliferative disorder of NK-cells skos:exactMatch DOID:7465 chronic NK-cell lymphocytosis semapv:UnspecifiedMatching MONDO:0004234 chronic lymphoproliferative disorder of NK-cells skos:exactMatch MEDGEN:268922 semapv:UnspecifiedMatching MONDO:0004234 chronic lymphoproliferative disorder of NK-cells skos:exactMatch NCIT:C39591 Chronic Lymphoproliferative Disorder of NK-Cells semapv:UnspecifiedMatching MONDO:0004234 chronic lymphoproliferative disorder of NK-cells skos:exactMatch Orphanet:512017 Chronic lymphoproliferative disorder of natural killer cells semapv:UnspecifiedMatching MONDO:0004234 chronic lymphoproliferative disorder of NK-cells skos:exactMatch SCTID:722955006 semapv:UnspecifiedMatching MONDO:0004234 chronic lymphoproliferative disorder of NK-cells skos:exactMatch UMLS:C1512709 semapv:UnspecifiedMatching MONDO:0004234 chronic lymphoproliferative disorder of NK-cells skos:exactMatch icd11.foundation:921755282 Chronic lymphoproliferative disorders of NK-cells semapv:UnspecifiedMatching MONDO:0004235 diverticulitis skos:exactMatch DOID:7475 diverticulitis semapv:UnspecifiedMatching MONDO:0004235 diverticulitis skos:exactMatch EFO:1001460 semapv:UnspecifiedMatching MONDO:0004235 diverticulitis skos:exactMatch MEDGEN:41629 semapv:UnspecifiedMatching MONDO:0004235 diverticulitis skos:exactMatch NCIT:C26752 Diverticulitis semapv:UnspecifiedMatching MONDO:0004235 diverticulitis skos:exactMatch SCTID:307496006 semapv:UnspecifiedMatching MONDO:0004235 diverticulitis skos:exactMatch UMLS:C0012813 semapv:UnspecifiedMatching MONDO:0004235 diverticulitis skos:exactMatch mesh:D004238 semapv:UnspecifiedMatching MONDO:0004236 duodenal somatostatinoma skos:exactMatch DOID:7479 duodenal somatostatinoma semapv:UnspecifiedMatching MONDO:0004236 duodenal somatostatinoma skos:exactMatch MEDGEN:234205 semapv:UnspecifiedMatching MONDO:0004236 duodenal somatostatinoma skos:exactMatch NCIT:C27407 Duodenal Somatostatin-Producing Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO:0004236 duodenal somatostatinoma skos:exactMatch UMLS:C1333320 semapv:UnspecifiedMatching MONDO:0004237 large cell carcinoma with rhabdoid phenotype skos:exactMatch DOID:7480 large cell carcinoma with rhabdoid phenotype semapv:UnspecifiedMatching MONDO:0004237 large cell carcinoma with rhabdoid phenotype skos:exactMatch MEDGEN:226828 semapv:UnspecifiedMatching MONDO:0004237 large cell carcinoma with rhabdoid phenotype skos:exactMatch NCIT:C6876 Lung Large Cell Carcinoma with Rhabdoid Phenotype semapv:UnspecifiedMatching MONDO:0004237 large cell carcinoma with rhabdoid phenotype skos:exactMatch UMLS:C1265997 semapv:UnspecifiedMatching MONDO:0004238 petrous apex meningioma skos:exactMatch DOID:7482 petrous apex meningioma semapv:UnspecifiedMatching MONDO:0004238 petrous apex meningioma skos:exactMatch MEDGEN:277512 semapv:UnspecifiedMatching MONDO:0004238 petrous apex meningioma skos:exactMatch NCIT:C5271 Petrous Apex Meningioma semapv:UnspecifiedMatching MONDO:0004238 petrous apex meningioma skos:exactMatch UMLS:C1335396 semapv:UnspecifiedMatching MONDO:0004239 cervical keratinizing squamous cell carcinoma skos:exactMatch DOID:7483 cervical keratinizing squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0004239 cervical keratinizing squamous cell carcinoma skos:exactMatch MEDGEN:309255 semapv:UnspecifiedMatching MONDO:0004239 cervical keratinizing squamous cell carcinoma skos:exactMatch NCIT:C40187 Cervical Keratinizing Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0004239 cervical keratinizing squamous cell carcinoma skos:exactMatch UMLS:C1517658 semapv:UnspecifiedMatching MONDO:0004240 posterior urethra cancer skos:exactMatch DOID:7488 posterior urethra cancer semapv:UnspecifiedMatching MONDO:0004240 posterior urethra cancer skos:exactMatch MEDGEN:124676 semapv:UnspecifiedMatching MONDO:0004240 posterior urethra cancer skos:exactMatch NCIT:C7640 Posterior Urethral Malignant Neoplasm semapv:UnspecifiedMatching MONDO:0004240 posterior urethra cancer skos:exactMatch UMLS:C0279931 semapv:UnspecifiedMatching MONDO:0004241 Osgood-Schlatter disease skos:exactMatch DOID:7489 Osgood-Schlatter's disease semapv:UnspecifiedMatching MONDO:0004241 Osgood-Schlatter disease skos:exactMatch ICD10CM:M92.52 Juvenile osteochondrosis of tibia tubercle semapv:UnspecifiedMatching MONDO:0004241 Osgood-Schlatter disease skos:exactMatch MEDGEN:10489 semapv:UnspecifiedMatching MONDO:0004241 Osgood-Schlatter disease skos:exactMatch NCIT:C34874 Osgood-Schlatter's Disease semapv:UnspecifiedMatching MONDO:0004241 Osgood-Schlatter disease skos:exactMatch Orphanet:97335 Osgood-Schlatter disease semapv:UnspecifiedMatching MONDO:0004241 Osgood-Schlatter disease skos:exactMatch SCTID:430506003 semapv:UnspecifiedMatching MONDO:0004241 Osgood-Schlatter disease skos:exactMatch SCTID:72047008 semapv:UnspecifiedMatching MONDO:0004241 Osgood-Schlatter disease skos:exactMatch UMLS:C0029376 semapv:UnspecifiedMatching MONDO:0004242 active peptic ulcer disease skos:exactMatch DOID:749 active peptic ulcer disease semapv:UnspecifiedMatching MONDO:0004243 vulvar proximal-type epithelioid sarcoma skos:exactMatch DOID:7491 vulvar proximal-type epithelioid sarcoma semapv:UnspecifiedMatching MONDO:0004243 vulvar proximal-type epithelioid sarcoma skos:exactMatch MEDGEN:276995 semapv:UnspecifiedMatching MONDO:0004243 vulvar proximal-type epithelioid sarcoma skos:exactMatch NCIT:C40319 Vulvar Proximal-Type Epithelioid Sarcoma semapv:UnspecifiedMatching MONDO:0004243 vulvar proximal-type epithelioid sarcoma skos:exactMatch UMLS:C1520093 semapv:UnspecifiedMatching MONDO:0004244 proximal-type epithelioid sarcoma skos:exactMatch DOID:7492 central epithelioid sarcoma semapv:UnspecifiedMatching MONDO:0004244 proximal-type epithelioid sarcoma skos:exactMatch MEDGEN:235511 semapv:UnspecifiedMatching MONDO:0004244 proximal-type epithelioid sarcoma skos:exactMatch NCIT:C27472 Proximal-Type Epithelioid Sarcoma semapv:UnspecifiedMatching MONDO:0004244 proximal-type epithelioid sarcoma skos:exactMatch UMLS:C1335563 semapv:UnspecifiedMatching MONDO:0004245 ependymal tumor of brain skos:exactMatch DOID:7497 brain ependymoma semapv:UnspecifiedMatching MONDO:0004245 ependymal tumor of brain skos:exactMatch MEDGEN:116038 semapv:UnspecifiedMatching MONDO:0004245 ependymal tumor of brain skos:exactMatch NCIT:C3861 Brain Ependymal Tumor semapv:UnspecifiedMatching MONDO:0004245 ependymal tumor of brain skos:exactMatch SCTID:254939008 semapv:UnspecifiedMatching MONDO:0004245 ependymal tumor of brain skos:exactMatch UMLS:C0238029 semapv:UnspecifiedMatching MONDO:0004247 peptic ulcer disease skos:exactMatch DOID:750 peptic ulcer disease semapv:UnspecifiedMatching MONDO:0004247 peptic ulcer disease skos:exactMatch MEDGEN:45384 semapv:UnspecifiedMatching MONDO:0004247 peptic ulcer disease skos:exactMatch NCIT:C3318 Peptic Ulcer semapv:UnspecifiedMatching MONDO:0004247 peptic ulcer disease skos:exactMatch SCTID:13200003 semapv:UnspecifiedMatching MONDO:0004247 peptic ulcer disease skos:exactMatch UMLS:C0030920 semapv:UnspecifiedMatching MONDO:0004247 peptic ulcer disease skos:exactMatch mesh:D010437 semapv:UnspecifiedMatching MONDO:0004248 pediatric infratentorial ependymoma skos:exactMatch DOID:7501 childhood infratentorial ependymoma semapv:UnspecifiedMatching MONDO:0004248 pediatric infratentorial ependymoma skos:exactMatch MEDGEN:82949 semapv:UnspecifiedMatching MONDO:0004248 pediatric infratentorial ependymoma skos:exactMatch NCIT:C9041 Childhood Infratentorial Ependymoma semapv:UnspecifiedMatching MONDO:0004248 pediatric infratentorial ependymoma skos:exactMatch UMLS:C0278599 semapv:UnspecifiedMatching MONDO:0004249 pediatric supratentorial ependymoma skos:exactMatch DOID:7502 childhood supratentorial ependymoma semapv:UnspecifiedMatching MONDO:0004249 pediatric supratentorial ependymoma skos:exactMatch EFO:0008495 semapv:UnspecifiedMatching MONDO:0004249 pediatric supratentorial ependymoma skos:exactMatch MEDGEN:78854 semapv:UnspecifiedMatching MONDO:0004249 pediatric supratentorial ependymoma skos:exactMatch NCIT:C9043 Childhood Supratentorial Ependymoma, Not Otherwise Specified semapv:UnspecifiedMatching MONDO:0004249 pediatric supratentorial ependymoma skos:exactMatch UMLS:C0278650 semapv:UnspecifiedMatching MONDO:0004250 extrahepatic bile duct papillary adenoma skos:exactMatch DOID:7503 extrahepatic bile duct papillary adenoma semapv:UnspecifiedMatching MONDO:0004250 extrahepatic bile duct papillary adenoma skos:exactMatch MEDGEN:232483 semapv:UnspecifiedMatching MONDO:0004250 extrahepatic bile duct papillary adenoma skos:exactMatch NCIT:C5849 Extrahepatic Bile Duct Papillary Adenoma semapv:UnspecifiedMatching MONDO:0004250 extrahepatic bile duct papillary adenoma skos:exactMatch UMLS:C1333510 semapv:UnspecifiedMatching MONDO:0004251 small intestine neoplasm skos:exactMatch DOID:7505 small intestine benign neoplasm semapv:UnspecifiedMatching MONDO:0004251 small intestine neoplasm skos:exactMatch MEDGEN:91055 semapv:UnspecifiedMatching MONDO:0004251 small intestine neoplasm skos:exactMatch NCIT:C4432 Small Intestinal Neoplasm semapv:UnspecifiedMatching MONDO:0004251 small intestine neoplasm skos:exactMatch SCTID:126832004 semapv:UnspecifiedMatching MONDO:0004251 small intestine neoplasm skos:exactMatch UMLS:C0345832 semapv:UnspecifiedMatching MONDO:0004252 small intestinal L-cell glucagon-like peptide producing tumor skos:exactMatch DOID:7506 small intestinal L-cell glucagon-like peptide producing tumor semapv:UnspecifiedMatching MONDO:0004252 small intestinal L-cell glucagon-like peptide producing tumor skos:exactMatch MEDGEN:475776 semapv:UnspecifiedMatching MONDO:0004252 small intestinal L-cell glucagon-like peptide producing tumor skos:exactMatch NCIT:C27452 Small Intestinal L-Cell Glucagon-Like Peptide-Producing Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO:0004252 small intestinal L-cell glucagon-like peptide producing tumor skos:exactMatch UMLS:C3274143 semapv:UnspecifiedMatching MONDO:0004253 intraductal breast papillomatosis skos:exactMatch DOID:7511 breast intraductal papillomatosis semapv:UnspecifiedMatching MONDO:0004253 intraductal breast papillomatosis skos:exactMatch MEDGEN:235224 semapv:UnspecifiedMatching MONDO:0004253 intraductal breast papillomatosis skos:exactMatch NCIT:C5201 Breast Intraductal Papillomatosis semapv:UnspecifiedMatching MONDO:0004253 intraductal breast papillomatosis skos:exactMatch UMLS:C1334247 semapv:UnspecifiedMatching MONDO:0004254 focal intraductal papillomatosis skos:exactMatch MEDGEN:272635 semapv:UnspecifiedMatching MONDO:0004254 focal intraductal papillomatosis skos:exactMatch UMLS:C1333626 semapv:UnspecifiedMatching MONDO:0004255 Wolffian adnexal tumor skos:exactMatch DOID:7514 Wolffian adnexal neoplasm semapv:UnspecifiedMatching MONDO:0004255 Wolffian adnexal tumor skos:exactMatch MEDGEN:275635 semapv:UnspecifiedMatching MONDO:0004255 Wolffian adnexal tumor skos:exactMatch NCIT:C40141 Wolffian Tumor semapv:UnspecifiedMatching MONDO:0004255 Wolffian adnexal tumor skos:exactMatch Orphanet:696830 Female adnexal tumor of probable Wolffian origin semapv:UnspecifiedMatching MONDO:0004255 Wolffian adnexal tumor skos:exactMatch UMLS:C1520159 semapv:UnspecifiedMatching MONDO:0004255 Wolffian adnexal tumor skos:exactMatch mesh:C536741 semapv:UnspecifiedMatching MONDO:0004256 lumbar spinal canal and spinal cord meningioma skos:exactMatch DOID:7515 lumbar spinal canal and spinal cord meningioma semapv:UnspecifiedMatching MONDO:0004256 lumbar spinal canal and spinal cord meningioma skos:exactMatch MEDGEN:232707 semapv:UnspecifiedMatching MONDO:0004256 lumbar spinal canal and spinal cord meningioma skos:exactMatch NCIT:C5298 Lumbar Spinal Cord Meningioma semapv:UnspecifiedMatching MONDO:0004256 lumbar spinal canal and spinal cord meningioma skos:exactMatch UMLS:C1334436 semapv:UnspecifiedMatching MONDO:0004257 childhood central nervous system mixed germ cell tumor skos:exactMatch DOID:7516 childhood central nervous system mixed germ cell tumor semapv:UnspecifiedMatching MONDO:0004257 childhood central nervous system mixed germ cell tumor skos:exactMatch MEDGEN:232346 semapv:UnspecifiedMatching MONDO:0004257 childhood central nervous system mixed germ cell tumor skos:exactMatch NCIT:C27403 Childhood Central Nervous System Mixed Germ Cell Tumor semapv:UnspecifiedMatching MONDO:0004257 childhood central nervous system mixed germ cell tumor skos:exactMatch UMLS:C1332956 semapv:UnspecifiedMatching MONDO:0004258 female orgasmic disorder skos:exactMatch DOID:7518 inhibited female orgasm semapv:UnspecifiedMatching MONDO:0004258 female orgasmic disorder skos:exactMatch ICD10CM:F52.31 Female orgasmic disorder semapv:UnspecifiedMatching MONDO:0004258 female orgasmic disorder skos:exactMatch MEDGEN:892329 semapv:UnspecifiedMatching MONDO:0004258 female orgasmic disorder skos:exactMatch NCIT:C34958 Female Orgasmic Disorder semapv:UnspecifiedMatching MONDO:0004258 female orgasmic disorder skos:exactMatch SCTID:60103007 semapv:UnspecifiedMatching MONDO:0004258 female orgasmic disorder skos:exactMatch UMLS:C4022677 semapv:UnspecifiedMatching MONDO:0004259 endocervical carcinoma skos:exactMatch DOID:7519 endocervical carcinoma semapv:UnspecifiedMatching MONDO:0004259 endocervical carcinoma skos:exactMatch MEDGEN:226966 semapv:UnspecifiedMatching MONDO:0004259 endocervical carcinoma skos:exactMatch SCTID:372098004 semapv:UnspecifiedMatching MONDO:0004259 endocervical carcinoma skos:exactMatch UMLS:C1299237 semapv:UnspecifiedMatching MONDO:0004260 peptic ulcer perforation skos:exactMatch DOID:752 peptic ulcer perforation semapv:UnspecifiedMatching MONDO:0004260 peptic ulcer perforation skos:exactMatch EFO:1001389 semapv:UnspecifiedMatching MONDO:0004260 peptic ulcer perforation skos:exactMatch MEDGEN:45385 semapv:UnspecifiedMatching MONDO:0004260 peptic ulcer perforation skos:exactMatch SCTID:79118000 semapv:UnspecifiedMatching MONDO:0004260 peptic ulcer perforation skos:exactMatch UMLS:C0030925 semapv:UnspecifiedMatching MONDO:0004260 peptic ulcer perforation skos:exactMatch mesh:D010439 semapv:UnspecifiedMatching MONDO:0004261 periductal breast myoepitheliosis skos:exactMatch DOID:7520 periductal breast myoepitheliosis semapv:UnspecifiedMatching MONDO:0004261 periductal breast myoepitheliosis skos:exactMatch MEDGEN:274144 semapv:UnspecifiedMatching MONDO:0004261 periductal breast myoepitheliosis skos:exactMatch NCIT:C40388 Breast Periductal Myoepitheliosis semapv:UnspecifiedMatching MONDO:0004261 periductal breast myoepitheliosis skos:exactMatch UMLS:C1518974 semapv:UnspecifiedMatching MONDO:0004262 breast myoepitheliosis skos:exactMatch DOID:7521 breast myoepitheliosis semapv:UnspecifiedMatching MONDO:0004262 breast myoepitheliosis skos:exactMatch MEDGEN:269362 semapv:UnspecifiedMatching MONDO:0004262 breast myoepitheliosis skos:exactMatch NCIT:C40385 Breast Myoepitheliosis semapv:UnspecifiedMatching MONDO:0004262 breast myoepitheliosis skos:exactMatch UMLS:C1513799 semapv:UnspecifiedMatching MONDO:0004263 pediatric infratentorial ependymoblastoma skos:exactMatch DOID:7522 childhood infratentorial embryonal tumor with multilayered rosettes, C19MC-altered semapv:UnspecifiedMatching MONDO:0004263 pediatric infratentorial ependymoblastoma skos:exactMatch MEDGEN:272462 semapv:UnspecifiedMatching MONDO:0004263 pediatric infratentorial ependymoblastoma skos:exactMatch NCIT:C6773 Childhood Infratentorial Embryonal Tumor with Multilayered Rosettes, C19MC-Altered semapv:UnspecifiedMatching MONDO:0004263 pediatric infratentorial ependymoblastoma skos:exactMatch UMLS:C1332972 semapv:UnspecifiedMatching MONDO:0004264 acute gonococcal endometritis skos:exactMatch DOID:7527 acute gonococcal endometritis semapv:UnspecifiedMatching MONDO:0004264 acute gonococcal endometritis skos:exactMatch MEDGEN:509198 semapv:UnspecifiedMatching MONDO:0004264 acute gonococcal endometritis skos:exactMatch SCTID:65295003 semapv:UnspecifiedMatching MONDO:0004264 acute gonococcal endometritis skos:exactMatch UMLS:C0153196 semapv:UnspecifiedMatching MONDO:0004265 acute endometritis skos:exactMatch DOID:7528 acute endometritis semapv:UnspecifiedMatching MONDO:0004265 acute endometritis skos:exactMatch MEDGEN:68654 semapv:UnspecifiedMatching MONDO:0004265 acute endometritis skos:exactMatch NCIT:C27022 Acute Endometritis semapv:UnspecifiedMatching MONDO:0004265 acute endometritis skos:exactMatch SCTID:67667007 semapv:UnspecifiedMatching MONDO:0004265 acute endometritis skos:exactMatch UMLS:C0238103 semapv:UnspecifiedMatching MONDO:0004265 acute endometritis skos:exactMatch icd11.foundation:1197441046 Acute endometritis semapv:UnspecifiedMatching MONDO:0004266 anal gland adenocarcinoma skos:exactMatch DOID:7531 anal gland adenocarcinoma semapv:UnspecifiedMatching MONDO:0004266 anal gland adenocarcinoma skos:exactMatch MEDGEN:220409 semapv:UnspecifiedMatching MONDO:0004266 anal gland adenocarcinoma skos:exactMatch NCIT:C5609 Anal Glands Adenocarcinoma semapv:UnspecifiedMatching MONDO:0004266 anal gland adenocarcinoma skos:exactMatch UMLS:C1266027 semapv:UnspecifiedMatching MONDO:0004267 squamous papillomatosis skos:exactMatch DOID:7532 squamous papillomatosis semapv:UnspecifiedMatching MONDO:0004267 squamous papillomatosis skos:exactMatch MEDGEN:235130 semapv:UnspecifiedMatching MONDO:0004267 squamous papillomatosis skos:exactMatch NCIT:C9009 Squamous Papillomatosis semapv:UnspecifiedMatching MONDO:0004267 squamous papillomatosis skos:exactMatch UMLS:C1378340 semapv:UnspecifiedMatching MONDO:0004268 obsolete subareolar duct papillomatosis skos:exactMatch DOID:7533 subareolar duct papillomatosis semapv:UnspecifiedMatching MONDO:0004269 breast cystic hypersecretory carcinoma skos:exactMatch DOID:7537 breast cystic hypersecretory carcinoma semapv:UnspecifiedMatching MONDO:0004270 breast ductal adenoma skos:exactMatch DOID:7538 breast ductal adenoma semapv:UnspecifiedMatching MONDO:0004270 breast ductal adenoma skos:exactMatch MEDGEN:307308 semapv:UnspecifiedMatching MONDO:0004270 breast ductal adenoma skos:exactMatch NCIT:C40384 Breast Ductal Adenoma semapv:UnspecifiedMatching MONDO:0004270 breast ductal adenoma skos:exactMatch UMLS:C1511307 semapv:UnspecifiedMatching MONDO:0004271 pregnancy adenoma skos:exactMatch DOID:7539 pregnancy adenoma semapv:UnspecifiedMatching MONDO:0004271 pregnancy adenoma skos:exactMatch MEDGEN:226830 semapv:UnspecifiedMatching MONDO:0004271 pregnancy adenoma skos:exactMatch NCIT:C9473 Lactating Adenoma semapv:UnspecifiedMatching MONDO:0004271 pregnancy adenoma skos:exactMatch UMLS:C1266023 semapv:UnspecifiedMatching MONDO:0004272 urinary bladder tuberculosis skos:exactMatch DOID:754 bladder tuberculosis semapv:UnspecifiedMatching MONDO:0004272 urinary bladder tuberculosis skos:exactMatch ICD10CM:A18.12 Tuberculosis of bladder semapv:UnspecifiedMatching MONDO:0004272 urinary bladder tuberculosis skos:exactMatch MEDGEN:509075 semapv:UnspecifiedMatching MONDO:0004272 urinary bladder tuberculosis skos:exactMatch SCTID:32268008 semapv:UnspecifiedMatching MONDO:0004272 urinary bladder tuberculosis skos:exactMatch UMLS:C0152793 semapv:UnspecifiedMatching MONDO:0004273 breast apocrine adenoma skos:exactMatch DOID:7540 breast apocrine adenoma semapv:UnspecifiedMatching MONDO:0004273 breast apocrine adenoma skos:exactMatch MEDGEN:235590 semapv:UnspecifiedMatching MONDO:0004273 breast apocrine adenoma skos:exactMatch NCIT:C40383 Breast Apocrine Adenoma semapv:UnspecifiedMatching MONDO:0004273 breast apocrine adenoma skos:exactMatch UMLS:C1388299 semapv:UnspecifiedMatching MONDO:0004273 breast apocrine adenoma skos:exactMatch icd11.foundation:636674012 Breast apocrine adenoma semapv:UnspecifiedMatching MONDO:0004274 mixed epithelial/mesenchymal metaplastic breast carcinoma skos:exactMatch DOID:7541 mixed epithelial/mesenchymal metaplastic breast carcinoma semapv:UnspecifiedMatching MONDO:0004274 mixed epithelial/mesenchymal metaplastic breast carcinoma skos:exactMatch MEDGEN:307769 semapv:UnspecifiedMatching MONDO:0004274 mixed epithelial/mesenchymal metaplastic breast carcinoma skos:exactMatch NCIT:C40364 Breast Mixed Epithelial/Mesenchymal Metaplastic Carcinoma semapv:UnspecifiedMatching MONDO:0004274 mixed epithelial/mesenchymal metaplastic breast carcinoma skos:exactMatch UMLS:C1513365 semapv:UnspecifiedMatching MONDO:0004275 osteosarcoma arising in bone Paget disease skos:exactMatch DOID:7542 osteosarcoma arising in bone Paget's disease semapv:UnspecifiedMatching MONDO:0004275 osteosarcoma arising in bone Paget disease skos:exactMatch MEDGEN:569679 semapv:UnspecifiedMatching MONDO:0004275 osteosarcoma arising in bone Paget disease skos:exactMatch NCIT:C6469 Osteosarcoma Arising in Paget Disease of Bone semapv:UnspecifiedMatching MONDO:0004275 osteosarcoma arising in bone Paget disease skos:exactMatch UMLS:C0334546 semapv:UnspecifiedMatching MONDO:0004276 ceruminoma skos:exactMatch DOID:7549 ceruminoma semapv:UnspecifiedMatching MONDO:0004276 ceruminoma skos:exactMatch MEDGEN:569651 semapv:UnspecifiedMatching MONDO:0004276 ceruminoma skos:exactMatch NCIT:C6088 Ceruminous Adenoma semapv:UnspecifiedMatching MONDO:0004276 ceruminoma skos:exactMatch SCTID:403945001 semapv:UnspecifiedMatching MONDO:0004276 ceruminoma skos:exactMatch UMLS:C0334352 semapv:UnspecifiedMatching MONDO:0004277 gonorrhea skos:exactMatch DOID:7551 gonorrhea semapv:UnspecifiedMatching MONDO:0004277 gonorrhea skos:exactMatch MEDGEN:9077 semapv:UnspecifiedMatching MONDO:0004277 gonorrhea skos:exactMatch NCIT:C92950 Gonorrhea semapv:UnspecifiedMatching MONDO:0004277 gonorrhea skos:exactMatch SCTID:15628003 semapv:UnspecifiedMatching MONDO:0004277 gonorrhea skos:exactMatch UMLS:C0018081 semapv:UnspecifiedMatching MONDO:0004277 gonorrhea skos:exactMatch mesh:D006069 semapv:UnspecifiedMatching MONDO:0004278 infiltrating bladder urothelial carcinoma sarcomatoid variant skos:exactMatch DOID:7553 infiltrating bladder urothelial carcinoma sarcomatoid variant semapv:UnspecifiedMatching MONDO:0004278 infiltrating bladder urothelial carcinoma sarcomatoid variant skos:exactMatch EFO:1000303 semapv:UnspecifiedMatching MONDO:0004278 infiltrating bladder urothelial carcinoma sarcomatoid variant skos:exactMatch MEDGEN:268929 semapv:UnspecifiedMatching MONDO:0004278 infiltrating bladder urothelial carcinoma sarcomatoid variant skos:exactMatch NCIT:C39824 Invasive Bladder Sarcomatoid Urothelial Carcinoma semapv:UnspecifiedMatching MONDO:0004278 infiltrating bladder urothelial carcinoma sarcomatoid variant skos:exactMatch UMLS:C1512743 semapv:UnspecifiedMatching MONDO:0004279 glossopharyngeal motor neuropathy skos:exactMatch DOID:7558 glossopharyngeal motor neuropathy semapv:UnspecifiedMatching MONDO:0004279 glossopharyngeal motor neuropathy skos:exactMatch MEDGEN:155662 semapv:UnspecifiedMatching MONDO:0004279 glossopharyngeal motor neuropathy skos:exactMatch NCIT:C27212 Glossopharyngeal Motor Neuropathy semapv:UnspecifiedMatching MONDO:0004279 glossopharyngeal motor neuropathy skos:exactMatch UMLS:C0751942 semapv:UnspecifiedMatching MONDO:0004280 asymmetric motor neuropathy skos:exactMatch DOID:7559 asymmetric motor neuropathy semapv:UnspecifiedMatching MONDO:0004280 asymmetric motor neuropathy skos:exactMatch MEDGEN:231082 semapv:UnspecifiedMatching MONDO:0004280 asymmetric motor neuropathy skos:exactMatch NCIT:C27953 Asymmetric Motor Neuropathy semapv:UnspecifiedMatching MONDO:0004280 asymmetric motor neuropathy skos:exactMatch UMLS:C1332341 semapv:UnspecifiedMatching MONDO:0004281 vulvar eccrine porocarcinoma skos:exactMatch DOID:7565 vulvar eccrine porocarcinoma semapv:UnspecifiedMatching MONDO:0004281 vulvar eccrine porocarcinoma skos:exactMatch MEDGEN:275616 semapv:UnspecifiedMatching MONDO:0004281 vulvar eccrine porocarcinoma skos:exactMatch NCIT:C40306 Vulvar Porocarcinoma semapv:UnspecifiedMatching MONDO:0004281 vulvar eccrine porocarcinoma skos:exactMatch UMLS:C1520081 semapv:UnspecifiedMatching MONDO:0004283 vulvar clear cell hidradenocarcinoma skos:exactMatch DOID:7567 vulvar clear cell hidradenocarcinoma semapv:UnspecifiedMatching MONDO:0004283 vulvar clear cell hidradenocarcinoma skos:exactMatch MEDGEN:275614 semapv:UnspecifiedMatching MONDO:0004283 vulvar clear cell hidradenocarcinoma skos:exactMatch NCIT:C40307 Vulvar Clear Cell Hidradenocarcinoma semapv:UnspecifiedMatching MONDO:0004283 vulvar clear cell hidradenocarcinoma skos:exactMatch UMLS:C1520076 semapv:UnspecifiedMatching MONDO:0004285 pancreatic intraductal papillary-mucinous carcinoma skos:exactMatch DOID:7574 pancreatic intraductal papillary-colloid carcinoma semapv:UnspecifiedMatching MONDO:0004285 pancreatic intraductal papillary-mucinous carcinoma skos:exactMatch MEDGEN:235451 semapv:UnspecifiedMatching MONDO:0004285 pancreatic intraductal papillary-mucinous carcinoma skos:exactMatch NCIT:C5725 Pancreatic Intraductal Papillary-Mucinous Carcinoma semapv:UnspecifiedMatching MONDO:0004285 pancreatic intraductal papillary-mucinous carcinoma skos:exactMatch Orphanet:424058 Intraductal papillary mucinous carcinoma of pancreas semapv:UnspecifiedMatching MONDO:0004285 pancreatic intraductal papillary-mucinous carcinoma skos:exactMatch UMLS:C1335304 semapv:UnspecifiedMatching MONDO:0004285 pancreatic intraductal papillary-mucinous carcinoma skos:exactMatch icd11.foundation:2086328209 Intraductal papillary-mucinous carcinoma of pancreas semapv:UnspecifiedMatching MONDO:0004286 pancreatic intraductal papillary-mucinous neoplasm skos:exactMatch DOID:7575 pancreatic intraductal papillary-mucinous neoplasm semapv:UnspecifiedMatching MONDO:0004286 pancreatic intraductal papillary-mucinous neoplasm skos:exactMatch MEDGEN:1373306 semapv:UnspecifiedMatching MONDO:0004286 pancreatic intraductal papillary-mucinous neoplasm skos:exactMatch NCIT:C38342 Pancreatic Intraductal Papillary-Mucinous Neoplasm semapv:UnspecifiedMatching MONDO:0004286 pancreatic intraductal papillary-mucinous neoplasm skos:exactMatch UMLS:C4511687 semapv:UnspecifiedMatching MONDO:0004287 pancreatic foamy gland adenocarcinoma skos:exactMatch DOID:7577 pancreatic foamy gland adenocarcinoma semapv:UnspecifiedMatching MONDO:0004287 pancreatic foamy gland adenocarcinoma skos:exactMatch MEDGEN:235450 semapv:UnspecifiedMatching MONDO:0004287 pancreatic foamy gland adenocarcinoma skos:exactMatch NCIT:C37256 Pancreatic Foamy Gland Adenocarcinoma semapv:UnspecifiedMatching MONDO:0004287 pancreatic foamy gland adenocarcinoma skos:exactMatch UMLS:C1335303 semapv:UnspecifiedMatching MONDO:0004288 scirrhous breast carcinoma skos:exactMatch DOID:7578 breast scirrhous carcinoma semapv:UnspecifiedMatching MONDO:0004288 scirrhous breast carcinoma skos:exactMatch MEDGEN:87541 semapv:UnspecifiedMatching MONDO:0004288 scirrhous breast carcinoma skos:exactMatch NCIT:C7362 Breast Scirrhous Carcinoma semapv:UnspecifiedMatching MONDO:0004288 scirrhous breast carcinoma skos:exactMatch SCTID:254839007 semapv:UnspecifiedMatching MONDO:0004288 scirrhous breast carcinoma skos:exactMatch UMLS:C0346151 semapv:UnspecifiedMatching MONDO:0004289 glottis verrucous carcinoma skos:exactMatch DOID:7583 glottis verrucous carcinoma semapv:UnspecifiedMatching MONDO:0004289 glottis verrucous carcinoma skos:exactMatch MEDGEN:83631 semapv:UnspecifiedMatching MONDO:0004289 glottis verrucous carcinoma skos:exactMatch NCIT:C8189 Glottis Verrucous Carcinoma semapv:UnspecifiedMatching MONDO:0004289 glottis verrucous carcinoma skos:exactMatch UMLS:C0280329 semapv:UnspecifiedMatching MONDO:0004290 subglottis verrucous carcinoma skos:exactMatch DOID:7584 subglottis verrucous carcinoma semapv:UnspecifiedMatching MONDO:0004290 subglottis verrucous carcinoma skos:exactMatch MEDGEN:124721 semapv:UnspecifiedMatching MONDO:0004290 subglottis verrucous carcinoma skos:exactMatch NCIT:C8190 Subglottic Verrucous Carcinoma semapv:UnspecifiedMatching MONDO:0004290 subglottis verrucous carcinoma skos:exactMatch UMLS:C0280330 semapv:UnspecifiedMatching MONDO:0004291 subglottis squamous cell carcinoma skos:exactMatch DOID:7585 subglottis squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0004291 subglottis squamous cell carcinoma skos:exactMatch MEDGEN:124720 semapv:UnspecifiedMatching MONDO:0004291 subglottis squamous cell carcinoma skos:exactMatch NCIT:C8187 Subglottic Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0004291 subglottis squamous cell carcinoma skos:exactMatch UMLS:C0280326 semapv:UnspecifiedMatching MONDO:0004292 supraglottis verrucous carcinoma skos:exactMatch DOID:7586 supraglottis verrucous carcinoma semapv:UnspecifiedMatching MONDO:0004292 supraglottis verrucous carcinoma skos:exactMatch MEDGEN:76098 semapv:UnspecifiedMatching MONDO:0004292 supraglottis verrucous carcinoma skos:exactMatch NCIT:C8191 Supraglottic Verrucous Carcinoma semapv:UnspecifiedMatching MONDO:0004292 supraglottis verrucous carcinoma skos:exactMatch UMLS:C0280331 semapv:UnspecifiedMatching MONDO:0004293 supraglottis squamous cell carcinoma skos:exactMatch DOID:7587 supraglottis squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0004293 supraglottis squamous cell carcinoma skos:exactMatch MEDGEN:152890 semapv:UnspecifiedMatching MONDO:0004293 supraglottis squamous cell carcinoma skos:exactMatch NCIT:C4945 Supraglottic Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0004293 supraglottis squamous cell carcinoma skos:exactMatch UMLS:C0749163 semapv:UnspecifiedMatching MONDO:0004294 gestational ovarian choriocarcinoma skos:exactMatch DOID:7591 gestational ovarian choriocarcinoma semapv:UnspecifiedMatching MONDO:0004294 gestational ovarian choriocarcinoma skos:exactMatch MEDGEN:274586 semapv:UnspecifiedMatching MONDO:0004294 gestational ovarian choriocarcinoma skos:exactMatch NCIT:C40442 Ovarian Gestational Choriocarcinoma semapv:UnspecifiedMatching MONDO:0004294 gestational ovarian choriocarcinoma skos:exactMatch UMLS:C1517538 semapv:UnspecifiedMatching MONDO:0004295 asbestos-related lung carcinoma skos:exactMatch DOID:7596 asbestos-related lung carcinoma semapv:UnspecifiedMatching MONDO:0004295 asbestos-related lung carcinoma skos:exactMatch MEDGEN:231080 semapv:UnspecifiedMatching MONDO:0004295 asbestos-related lung carcinoma skos:exactMatch NCIT:C27925 Asbestos-Related Lung Carcinoma semapv:UnspecifiedMatching MONDO:0004295 asbestos-related lung carcinoma skos:exactMatch UMLS:C1332337 semapv:UnspecifiedMatching MONDO:0004296 cervical lymphoepithelioma-like carcinoma skos:exactMatch DOID:7598 cervical lymphoepithelioma-like carcinoma semapv:UnspecifiedMatching MONDO:0004296 cervical lymphoepithelioma-like carcinoma skos:exactMatch MEDGEN:308946 semapv:UnspecifiedMatching MONDO:0004296 cervical lymphoepithelioma-like carcinoma skos:exactMatch NCIT:C40193 Cervical Lymphoepithelioma-Like Carcinoma semapv:UnspecifiedMatching MONDO:0004296 cervical lymphoepithelioma-like carcinoma skos:exactMatch UMLS:C1516418 semapv:UnspecifiedMatching MONDO:0004297 lymphoepithelioma-like thymic carcinoma skos:exactMatch DOID:7599 lymphoepithelioma-like thymic carcinoma semapv:UnspecifiedMatching MONDO:0004297 lymphoepithelioma-like thymic carcinoma skos:exactMatch MEDGEN:79026 semapv:UnspecifiedMatching MONDO:0004297 lymphoepithelioma-like thymic carcinoma skos:exactMatch NCIT:C7998 Thymus Lymphoepithelial Carcinoma semapv:UnspecifiedMatching MONDO:0004297 lymphoepithelioma-like thymic carcinoma skos:exactMatch UMLS:C0279706 semapv:UnspecifiedMatching MONDO:0004298 stomach disorder skos:exactMatch DOID:76 stomach disease semapv:UnspecifiedMatching MONDO:0004298 stomach disorder skos:exactMatch EFO:0009608 semapv:UnspecifiedMatching MONDO:0004298 stomach disorder skos:exactMatch MEDGEN:21329 semapv:UnspecifiedMatching MONDO:0004298 stomach disorder skos:exactMatch NCIT:C26886 Gastric Disorder semapv:UnspecifiedMatching MONDO:0004298 stomach disorder skos:exactMatch SCTID:29384001 semapv:UnspecifiedMatching MONDO:0004298 stomach disorder skos:exactMatch UMLS:C0038354 semapv:UnspecifiedMatching MONDO:0004298 stomach disorder skos:exactMatch icd11.foundation:1264914040 Diseases of stomach semapv:UnspecifiedMatching MONDO:0004298 stomach disorder skos:exactMatch mesh:D013272 semapv:UnspecifiedMatching MONDO:0004299 infiltrating bladder lymphoepithelioma-like carcinoma skos:exactMatch DOID:7600 infiltrating bladder lymphoepithelioma-like carcinoma semapv:UnspecifiedMatching MONDO:0004299 infiltrating bladder lymphoepithelioma-like carcinoma skos:exactMatch MEDGEN:268571 semapv:UnspecifiedMatching MONDO:0004299 infiltrating bladder lymphoepithelioma-like carcinoma skos:exactMatch NCIT:C39821 Invasive Bladder Lymphoepithelioma-Like Carcinoma semapv:UnspecifiedMatching MONDO:0004299 infiltrating bladder lymphoepithelioma-like carcinoma skos:exactMatch UMLS:C1512736 semapv:UnspecifiedMatching MONDO:0004301 fibrosarcomatous osteosarcoma skos:exactMatch DOID:7603 fibrosarcomatous osteosarcoma semapv:UnspecifiedMatching MONDO:0004301 fibrosarcomatous osteosarcoma skos:exactMatch MEDGEN:79012 semapv:UnspecifiedMatching MONDO:0004301 fibrosarcomatous osteosarcoma skos:exactMatch NCIT:C4020 Fibroblastic Osteosarcoma semapv:UnspecifiedMatching MONDO:0004301 fibrosarcomatous osteosarcoma skos:exactMatch UMLS:C0279602 semapv:UnspecifiedMatching MONDO:0004302 chief cell adenoma skos:exactMatch DOID:7607 chief cell adenoma semapv:UnspecifiedMatching MONDO:0004302 chief cell adenoma skos:exactMatch MEDGEN:83128 semapv:UnspecifiedMatching MONDO:0004302 chief cell adenoma skos:exactMatch NCIT:C4154 Parathyroid Gland Chief Cell Adenoma semapv:UnspecifiedMatching MONDO:0004302 chief cell adenoma skos:exactMatch UMLS:C0334320 semapv:UnspecifiedMatching MONDO:0004303 parathyroid gland clear cell adenoma skos:exactMatch DOID:7609 parathyroid transitional clear cell adenoma semapv:UnspecifiedMatching MONDO:0004303 parathyroid gland clear cell adenoma skos:exactMatch MEDGEN:83546 semapv:UnspecifiedMatching MONDO:0004303 parathyroid gland clear cell adenoma skos:exactMatch NCIT:C7993 Parathyroid Gland Clear Cell Adenoma semapv:UnspecifiedMatching MONDO:0004303 parathyroid gland clear cell adenoma skos:exactMatch UMLS:C0279700 semapv:UnspecifiedMatching MONDO:0004304 mixed cell type adenoma of parathyroid skos:exactMatch DOID:7610 mixed cell type adenoma of parathyroid semapv:UnspecifiedMatching MONDO:0004304 mixed cell type adenoma of parathyroid skos:exactMatch MEDGEN:83547 semapv:UnspecifiedMatching MONDO:0004304 mixed cell type adenoma of parathyroid skos:exactMatch NCIT:C7994 Parathyroid Gland Mixed Cell Type Adenoma semapv:UnspecifiedMatching MONDO:0004304 mixed cell type adenoma of parathyroid skos:exactMatch UMLS:C0279701 semapv:UnspecifiedMatching MONDO:0004305 parathyroid oncocytic adenoma skos:exactMatch DOID:7611 parathyroid oncocytic adenoma semapv:UnspecifiedMatching MONDO:0004305 parathyroid oncocytic adenoma skos:exactMatch MEDGEN:233845 semapv:UnspecifiedMatching MONDO:0004305 parathyroid oncocytic adenoma skos:exactMatch NCIT:C27393 Parathyroid Gland Oncocytic Adenoma semapv:UnspecifiedMatching MONDO:0004305 parathyroid oncocytic adenoma skos:exactMatch UMLS:C1335351 semapv:UnspecifiedMatching MONDO:0004306 childhood intracortical osteosarcoma skos:exactMatch DOID:7612 childhood intracortical osteosarcoma semapv:UnspecifiedMatching MONDO:0004306 childhood intracortical osteosarcoma skos:exactMatch MEDGEN:232350 semapv:UnspecifiedMatching MONDO:0004306 childhood intracortical osteosarcoma skos:exactMatch NCIT:C6590 Childhood Conventional Osteosarcoma semapv:UnspecifiedMatching MONDO:0004306 childhood intracortical osteosarcoma skos:exactMatch UMLS:C1332974 semapv:UnspecifiedMatching MONDO:0004307 sarcomatosis of the meninges skos:exactMatch DOID:7613 sarcomatosis of the meninges semapv:UnspecifiedMatching MONDO:0004307 sarcomatosis of the meninges skos:exactMatch MEDGEN:83175 semapv:UnspecifiedMatching MONDO:0004307 sarcomatosis of the meninges skos:exactMatch NCIT:C4334 Meningeal Sarcomatosis semapv:UnspecifiedMatching MONDO:0004307 sarcomatosis of the meninges skos:exactMatch UMLS:C0334612 semapv:UnspecifiedMatching MONDO:0004308 meningeal sarcoma skos:exactMatch DOID:7614 meninges sarcoma semapv:UnspecifiedMatching MONDO:0004308 meningeal sarcoma skos:exactMatch MEDGEN:90148 semapv:UnspecifiedMatching MONDO:0004308 meningeal sarcoma skos:exactMatch NCIT:C4073 Meningeal Sarcoma semapv:UnspecifiedMatching MONDO:0004308 meningeal sarcoma skos:exactMatch UMLS:C0302327 semapv:UnspecifiedMatching MONDO:0004309 sarcomatosis skos:exactMatch DOID:7615 sarcomatosis semapv:UnspecifiedMatching MONDO:0004309 sarcomatosis skos:exactMatch MEDGEN:83152 semapv:UnspecifiedMatching MONDO:0004309 sarcomatosis skos:exactMatch NCIT:C4243 Sarcomatosis semapv:UnspecifiedMatching MONDO:0004309 sarcomatosis skos:exactMatch UMLS:C0334451 semapv:UnspecifiedMatching MONDO:0004310 adult embryonal tumor with multilayered rosettes, c19mc-altered skos:exactMatch DOID:7631 adult embryonal tumor with multilayered rosettes, C19MC-altered semapv:UnspecifiedMatching MONDO:0004310 adult embryonal tumor with multilayered rosettes, c19mc-altered skos:exactMatch MEDGEN:83792 semapv:UnspecifiedMatching MONDO:0004310 adult embryonal tumor with multilayered rosettes, c19mc-altered skos:exactMatch NCIT:C8290 Adult Embryonal Tumor with Multilayered Rosettes, C19MC-Altered semapv:UnspecifiedMatching MONDO:0004310 adult embryonal tumor with multilayered rosettes, c19mc-altered skos:exactMatch UMLS:C0281330 semapv:UnspecifiedMatching MONDO:0004311 carcinoma of Cowper glands skos:exactMatch DOID:7632 Cowper gland carcinoma semapv:UnspecifiedMatching MONDO:0004311 carcinoma of Cowper glands skos:exactMatch MEDGEN:273091 semapv:UnspecifiedMatching MONDO:0004311 carcinoma of Cowper glands skos:exactMatch NCIT:C39864 Cowper Gland Adenocarcinoma of the Urethra semapv:UnspecifiedMatching MONDO:0004311 carcinoma of Cowper glands skos:exactMatch UMLS:C1516284 semapv:UnspecifiedMatching MONDO:0004312 suprasellar meningioma skos:exactMatch DOID:7634 suprasellar meningioma semapv:UnspecifiedMatching MONDO:0004312 suprasellar meningioma skos:exactMatch MEDGEN:234911 semapv:UnspecifiedMatching MONDO:0004312 suprasellar meningioma skos:exactMatch NCIT:C6776 Suprasellar Meningioma semapv:UnspecifiedMatching MONDO:0004312 suprasellar meningioma skos:exactMatch UMLS:C1336535 semapv:UnspecifiedMatching MONDO:0004313 gasserian ganglion meningioma skos:exactMatch DOID:7635 Gasserian ganglion meningioma semapv:UnspecifiedMatching MONDO:0004313 gasserian ganglion meningioma skos:exactMatch MEDGEN:232542 semapv:UnspecifiedMatching MONDO:0004313 gasserian ganglion meningioma skos:exactMatch NCIT:C6779 Gasserian Meningioma semapv:UnspecifiedMatching MONDO:0004313 gasserian ganglion meningioma skos:exactMatch UMLS:C1333760 semapv:UnspecifiedMatching MONDO:0004314 malignant cutaneous granular cell skin tumor skos:exactMatch DOID:7639 malignant granular cell skin tumor semapv:UnspecifiedMatching MONDO:0004314 malignant cutaneous granular cell skin tumor skos:exactMatch MEDGEN:233658 semapv:UnspecifiedMatching MONDO:0004314 malignant cutaneous granular cell skin tumor skos:exactMatch NCIT:C5614 Malignant Skin Granular Cell Tumor semapv:UnspecifiedMatching MONDO:0004314 malignant cutaneous granular cell skin tumor skos:exactMatch UMLS:C1334575 semapv:UnspecifiedMatching MONDO:0004315 cholangiolocellular carcinoma skos:exactMatch DOID:7642 cholangiolocellular carcinoma semapv:UnspecifiedMatching MONDO:0004315 cholangiolocellular carcinoma skos:exactMatch MEDGEN:273143 semapv:UnspecifiedMatching MONDO:0004315 cholangiolocellular carcinoma skos:exactMatch NCIT:C41617 Cholangiolocellular Carcinoma semapv:UnspecifiedMatching MONDO:0004315 cholangiolocellular carcinoma skos:exactMatch UMLS:C1516490 semapv:UnspecifiedMatching MONDO:0004316 acantholytic squamous cell skin carcinoma skos:exactMatch DOID:7643 acantholytic squamous cell skin carcinoma semapv:UnspecifiedMatching MONDO:0004316 acantholytic squamous cell skin carcinoma skos:exactMatch MEDGEN:91065 semapv:UnspecifiedMatching MONDO:0004316 acantholytic squamous cell skin carcinoma skos:exactMatch NCIT:C4460 Skin Acantholytic Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0004316 acantholytic squamous cell skin carcinoma skos:exactMatch SCTID:254654004 semapv:UnspecifiedMatching MONDO:0004316 acantholytic squamous cell skin carcinoma skos:exactMatch UMLS:C0345979 semapv:UnspecifiedMatching MONDO:0004317 multiple spinal canal and spinal cord meningioma skos:exactMatch DOID:7646 multiple spinal canal and spinal cord meningioma semapv:UnspecifiedMatching MONDO:0004317 multiple spinal canal and spinal cord meningioma skos:exactMatch MEDGEN:235341 semapv:UnspecifiedMatching MONDO:0004317 multiple spinal canal and spinal cord meningioma skos:exactMatch NCIT:C5275 Multiple Spinal Cord Meningiomas semapv:UnspecifiedMatching MONDO:0004317 multiple spinal canal and spinal cord meningioma skos:exactMatch UMLS:C1334825 semapv:UnspecifiedMatching MONDO:0004318 pulmonary type ovarian small cell carcinoma skos:exactMatch DOID:7650 pulmonary type ovarian small cell carcinoma semapv:UnspecifiedMatching MONDO:0004318 pulmonary type ovarian small cell carcinoma skos:exactMatch MEDGEN:309517 semapv:UnspecifiedMatching MONDO:0004318 pulmonary type ovarian small cell carcinoma skos:exactMatch NCIT:C40440 Ovarian Small Cell Carcinoma, Pulmonary-Type semapv:UnspecifiedMatching MONDO:0004318 pulmonary type ovarian small cell carcinoma skos:exactMatch UMLS:C1518737 semapv:UnspecifiedMatching MONDO:0004319 hypercalcemic type ovarian small cell carcinoma skos:exactMatch DOID:7651 small-cell carcinoma of the ovary of hypercalcemic type semapv:UnspecifiedMatching MONDO:0004319 hypercalcemic type ovarian small cell carcinoma skos:exactMatch MEDGEN:275294 semapv:UnspecifiedMatching MONDO:0004319 hypercalcemic type ovarian small cell carcinoma skos:exactMatch NCIT:C40439 Ovarian Small Cell Carcinoma, Hypercalcemic Type semapv:UnspecifiedMatching MONDO:0004319 hypercalcemic type ovarian small cell carcinoma skos:exactMatch UMLS:C1518736 semapv:UnspecifiedMatching MONDO:0004320 adult infiltrating astrocytic neoplasm skos:exactMatch DOID:7656 adult infiltrating astrocytic neoplasm semapv:UnspecifiedMatching MONDO:0004320 adult infiltrating astrocytic neoplasm skos:exactMatch MEDGEN:79278 semapv:UnspecifiedMatching MONDO:0004320 adult infiltrating astrocytic neoplasm skos:exactMatch NCIT:C8289 Adult Infiltrating Astrocytic Tumor semapv:UnspecifiedMatching MONDO:0004320 adult infiltrating astrocytic neoplasm skos:exactMatch UMLS:C0281329 semapv:UnspecifiedMatching MONDO:0004321 endometrial mixed adenocarcinoma skos:exactMatch DOID:7664 endometrial mixed adenocarcinoma semapv:UnspecifiedMatching MONDO:0004321 endometrial mixed adenocarcinoma skos:exactMatch MEDGEN:1670192 semapv:UnspecifiedMatching MONDO:0004321 endometrial mixed adenocarcinoma skos:exactMatch NCIT:C40153 Endometrial Mixed Cell Adenocarcinoma semapv:UnspecifiedMatching MONDO:0004321 endometrial mixed adenocarcinoma skos:exactMatch UMLS:C4745252 semapv:UnspecifiedMatching MONDO:0004321 endometrial mixed adenocarcinoma skos:exactMatch icd11.foundation:575106861 Endometrial mixed adenocarcinoma semapv:UnspecifiedMatching MONDO:0004322 non-gestational ovarian choriocarcinoma skos:exactMatch DOID:7665 non-gestational ovarian choriocarcinoma semapv:UnspecifiedMatching MONDO:0004322 non-gestational ovarian choriocarcinoma skos:exactMatch MEDGEN:274798 semapv:UnspecifiedMatching MONDO:0004322 non-gestational ovarian choriocarcinoma skos:exactMatch NCIT:C39991 Non-Gestational Ovarian Choriocarcinoma semapv:UnspecifiedMatching MONDO:0004322 non-gestational ovarian choriocarcinoma skos:exactMatch UMLS:C1518355 semapv:UnspecifiedMatching MONDO:0004323 muscular atrophy skos:exactMatch DOID:767 muscular atrophy semapv:UnspecifiedMatching MONDO:0004323 muscular atrophy skos:exactMatch MEDGEN:892680 semapv:UnspecifiedMatching MONDO:0004323 muscular atrophy skos:exactMatch SCTID:88092000 semapv:UnspecifiedMatching MONDO:0004323 muscular atrophy skos:exactMatch UMLS:C0541794 semapv:UnspecifiedMatching MONDO:0004323 muscular atrophy skos:exactMatch mesh:D009133 semapv:UnspecifiedMatching MONDO:0004324 testicular fibroma skos:exactMatch DOID:7675 testicular fibroma semapv:UnspecifiedMatching MONDO:0004324 testicular fibroma skos:exactMatch MEDGEN:308256 semapv:UnspecifiedMatching MONDO:0004324 testicular fibroma skos:exactMatch NCIT:C39951 Testicular Fibroma semapv:UnspecifiedMatching MONDO:0004324 testicular fibroma skos:exactMatch UMLS:C1515282 semapv:UnspecifiedMatching MONDO:0004325 testicular thecoma skos:exactMatch DOID:7676 testicular thecoma semapv:UnspecifiedMatching MONDO:0004325 testicular thecoma skos:exactMatch MEDGEN:308260 semapv:UnspecifiedMatching MONDO:0004325 testicular thecoma skos:exactMatch NCIT:C39952 Testicular Thecoma semapv:UnspecifiedMatching MONDO:0004325 testicular thecoma skos:exactMatch UMLS:C1515299 semapv:UnspecifiedMatching MONDO:0004326 sphenoid sinus inverted papilloma skos:exactMatch DOID:7678 sphenoid sinus inverted papilloma semapv:UnspecifiedMatching MONDO:0004326 sphenoid sinus inverted papilloma skos:exactMatch MEDGEN:236834 semapv:UnspecifiedMatching MONDO:0004326 sphenoid sinus inverted papilloma skos:exactMatch NCIT:C6841 Sphenoid Sinus Inverted Papilloma semapv:UnspecifiedMatching MONDO:0004326 sphenoid sinus inverted papilloma skos:exactMatch UMLS:C1336037 semapv:UnspecifiedMatching MONDO:0004327 sphenoid sinus Schneiderian papilloma skos:exactMatch DOID:7679 sphenoid sinus Schneiderian papilloma semapv:UnspecifiedMatching MONDO:0004327 sphenoid sinus Schneiderian papilloma skos:exactMatch MEDGEN:277659 semapv:UnspecifiedMatching MONDO:0004327 sphenoid sinus Schneiderian papilloma skos:exactMatch NCIT:C6838 Sphenoid Sinus Papilloma semapv:UnspecifiedMatching MONDO:0004327 sphenoid sinus Schneiderian papilloma skos:exactMatch UMLS:C1336038 semapv:UnspecifiedMatching MONDO:0004328 maxillary sinus adenocarcinoma skos:exactMatch DOID:7684 maxillary sinus adenocarcinoma semapv:UnspecifiedMatching MONDO:0004328 maxillary sinus adenocarcinoma skos:exactMatch MEDGEN:233167 semapv:UnspecifiedMatching MONDO:0004328 maxillary sinus adenocarcinoma skos:exactMatch NCIT:C6240 Maxillary Sinus Adenocarcinoma semapv:UnspecifiedMatching MONDO:0004328 maxillary sinus adenocarcinoma skos:exactMatch SCTID:707339009 semapv:UnspecifiedMatching MONDO:0004328 maxillary sinus adenocarcinoma skos:exactMatch UMLS:C1334642 semapv:UnspecifiedMatching MONDO:0004329 pancreatic intraductal papillary-mucinous neoplasm with high grade dysplasia skos:exactMatch DOID:7685 pancreatic non-invasive intraductal papillary-mucinous carcinoma semapv:UnspecifiedMatching MONDO:0004329 pancreatic intraductal papillary-mucinous neoplasm with high grade dysplasia skos:exactMatch MEDGEN:275330 semapv:UnspecifiedMatching MONDO:0004329 pancreatic intraductal papillary-mucinous neoplasm with high grade dysplasia skos:exactMatch NCIT:C41251 Pancreatic Intraductal Papillary-Mucinous Neoplasm, High Grade semapv:UnspecifiedMatching MONDO:0004329 pancreatic intraductal papillary-mucinous neoplasm with high grade dysplasia skos:exactMatch UMLS:C1518873 semapv:UnspecifiedMatching MONDO:0004330 leptomeningeal sarcoma skos:exactMatch DOID:7689 leptomeninges sarcoma semapv:UnspecifiedMatching MONDO:0004330 leptomeningeal sarcoma skos:exactMatch MEDGEN:235139 semapv:UnspecifiedMatching MONDO:0004330 leptomeningeal sarcoma skos:exactMatch NCIT:C8312 Leptomeningeal Sarcoma semapv:UnspecifiedMatching MONDO:0004330 leptomeningeal sarcoma skos:exactMatch UMLS:C1384416 semapv:UnspecifiedMatching MONDO:0004331 bladder urachal adenocarcinoma skos:exactMatch DOID:7694 bladder urachal adenocarcinoma semapv:UnspecifiedMatching MONDO:0004331 bladder urachal adenocarcinoma skos:exactMatch MEDGEN:419014 semapv:UnspecifiedMatching MONDO:0004331 bladder urachal adenocarcinoma skos:exactMatch NCIT:C39843 Urachal Adenocarcinoma semapv:UnspecifiedMatching MONDO:0004331 bladder urachal adenocarcinoma skos:exactMatch UMLS:C2931201 semapv:UnspecifiedMatching MONDO:0004331 bladder urachal adenocarcinoma skos:exactMatch mesh:C536474 semapv:UnspecifiedMatching MONDO:0004332 lung hilum cancer skos:exactMatch DOID:7696 lung hilum cancer semapv:UnspecifiedMatching MONDO:0004332 lung hilum cancer skos:exactMatch MEDGEN:435848 semapv:UnspecifiedMatching MONDO:0004332 lung hilum cancer skos:exactMatch NCIT:C4566 Malignant Lung Hilum Neoplasm semapv:UnspecifiedMatching MONDO:0004332 lung hilum cancer skos:exactMatch SCTID:93827000 semapv:UnspecifiedMatching MONDO:0004332 lung hilum cancer skos:exactMatch UMLS:C2607931 semapv:UnspecifiedMatching MONDO:0004332 lung hilum cancer skos:exactMatch icd11.foundation:691871206 Primary malignant neoplasm of hilus of lung semapv:UnspecifiedMatching MONDO:0004333 pancreatic ACTH-producing neuroendocrine tumor skos:exactMatch DOID:7697 pancreatic ACTH hormone producing tumor semapv:UnspecifiedMatching MONDO:0004333 pancreatic ACTH-producing neuroendocrine tumor skos:exactMatch MEDGEN:233302 semapv:UnspecifiedMatching MONDO:0004333 pancreatic ACTH-producing neuroendocrine tumor skos:exactMatch NCIT:C27466 Pancreatic ACTH-Producing Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO:0004333 pancreatic ACTH-producing neuroendocrine tumor skos:exactMatch UMLS:C1335300 semapv:UnspecifiedMatching MONDO:0004334 non-functional pancreatic neuroendocrine tumor skos:exactMatch DOID:7698 non-functioning pancreatic endocrine tumor semapv:UnspecifiedMatching MONDO:0004334 non-functional pancreatic neuroendocrine tumor skos:exactMatch MEDGEN:277416 semapv:UnspecifiedMatching MONDO:0004334 non-functional pancreatic neuroendocrine tumor skos:exactMatch NCIT:C45837 Non-Functioning Pancreatic Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO:0004334 non-functional pancreatic neuroendocrine tumor skos:exactMatch Orphanet:506075 Non-functioning neuroendocrine tumor of pancreas semapv:UnspecifiedMatching MONDO:0004334 non-functional pancreatic neuroendocrine tumor skos:exactMatch UMLS:C1334977 semapv:UnspecifiedMatching MONDO:0004334 non-functional pancreatic neuroendocrine tumor skos:exactMatch mesh:C536126 semapv:UnspecifiedMatching MONDO:0004335 digestive system disorder skos:exactMatch DOID:77 gastrointestinal system disease semapv:UnspecifiedMatching MONDO:0004335 digestive system disorder skos:exactMatch ICD10CM:K00-K95 Diseases of the digestive system (K00-K95) semapv:UnspecifiedMatching MONDO:0004335 digestive system disorder skos:exactMatch MEDGEN:892790 semapv:UnspecifiedMatching MONDO:0004335 digestive system disorder skos:exactMatch NCIT:C2990 Digestive System Disorder semapv:UnspecifiedMatching MONDO:0004335 digestive system disorder skos:exactMatch SCTID:53619000 semapv:UnspecifiedMatching MONDO:0004335 digestive system disorder skos:exactMatch UMLS:C4023588 semapv:UnspecifiedMatching MONDO:0004335 digestive system disorder skos:exactMatch icd11.foundation:1256772020 Diseases of the digestive system semapv:UnspecifiedMatching MONDO:0004335 digestive system disorder skos:exactMatch mesh:D005767 semapv:UnspecifiedMatching MONDO:0004336 rectal signet ring cell adenocarcinoma skos:exactMatch DOID:7707 rectum signet ring adenocarcinoma semapv:UnspecifiedMatching MONDO:0004336 rectal signet ring cell adenocarcinoma skos:exactMatch MEDGEN:124641 semapv:UnspecifiedMatching MONDO:0004336 rectal signet ring cell adenocarcinoma skos:exactMatch NCIT:C9168 Rectal Signet Ring Cell Adenocarcinoma semapv:UnspecifiedMatching MONDO:0004336 rectal signet ring cell adenocarcinoma skos:exactMatch UMLS:C0279654 semapv:UnspecifiedMatching MONDO:0004337 perianal skin Paget disease skos:exactMatch DOID:7708 perianal skin Paget's disease semapv:UnspecifiedMatching MONDO:0004337 perianal skin Paget disease skos:exactMatch MEDGEN:231372 semapv:UnspecifiedMatching MONDO:0004337 perianal skin Paget disease skos:exactMatch NCIT:C7476 Anal Margin Paget Disease semapv:UnspecifiedMatching MONDO:0004337 perianal skin Paget disease skos:exactMatch UMLS:C1332270 semapv:UnspecifiedMatching MONDO:0004338 retinal cell cancer skos:exactMatch DOID:771 retinal cell cancer semapv:UnspecifiedMatching MONDO:0004339 tuberculum sellae meningioma skos:exactMatch DOID:7713 tuberculum sellae meningioma semapv:UnspecifiedMatching MONDO:0004339 tuberculum sellae meningioma skos:exactMatch MEDGEN:277835 semapv:UnspecifiedMatching MONDO:0004339 tuberculum sellae meningioma skos:exactMatch NCIT:C5284 Tuberculum Sellae Meningioma semapv:UnspecifiedMatching MONDO:0004339 tuberculum sellae meningioma skos:exactMatch UMLS:C1336829 semapv:UnspecifiedMatching MONDO:0004340 mixed ductal-endocrine carcinoma of pancreas skos:exactMatch DOID:7716 mixed ductal-endocrine carcinoma semapv:UnspecifiedMatching MONDO:0004340 mixed ductal-endocrine carcinoma of pancreas skos:exactMatch MEDGEN:266254 semapv:UnspecifiedMatching MONDO:0004340 mixed ductal-endocrine carcinoma of pancreas skos:exactMatch NCIT:C6879 Pancreatic Mixed Ductal Adenocarcinoma-Neuroendocrine Carcinoma semapv:UnspecifiedMatching MONDO:0004340 mixed ductal-endocrine carcinoma of pancreas skos:exactMatch UMLS:C1301048 semapv:UnspecifiedMatching MONDO:0004341 colloid carcinoma of the pancreas skos:exactMatch DOID:7717 colloid carcinoma of the pancreas semapv:UnspecifiedMatching MONDO:0004341 colloid carcinoma of the pancreas skos:exactMatch MEDGEN:232082 semapv:UnspecifiedMatching MONDO:0004341 colloid carcinoma of the pancreas skos:exactMatch NCIT:C37214 Pancreatic Colloid Carcinoma semapv:UnspecifiedMatching MONDO:0004341 colloid carcinoma of the pancreas skos:exactMatch UMLS:C1333081 semapv:UnspecifiedMatching MONDO:0004343 pancreatic acinar cell cystadenocarcinoma skos:exactMatch DOID:7729 acinar cell cystadenocarcinoma semapv:UnspecifiedMatching MONDO:0004343 pancreatic acinar cell cystadenocarcinoma skos:exactMatch MEDGEN:224757 semapv:UnspecifiedMatching MONDO:0004343 pancreatic acinar cell cystadenocarcinoma skos:exactMatch NCIT:C5727 Pancreatic Acinar Cell Cystadenocarcinoma semapv:UnspecifiedMatching MONDO:0004343 pancreatic acinar cell cystadenocarcinoma skos:exactMatch UMLS:C1266087 semapv:UnspecifiedMatching MONDO:0004344 childhood malignant hemangiopericytoma skos:exactMatch DOID:7731 childhood malignant hemangiopericytoma semapv:UnspecifiedMatching MONDO:0004344 childhood malignant hemangiopericytoma skos:exactMatch MEDGEN:124686 semapv:UnspecifiedMatching MONDO:0004344 childhood malignant hemangiopericytoma skos:exactMatch NCIT:C8090 Malignant Childhood Hemangiopericytoma semapv:UnspecifiedMatching MONDO:0004344 childhood malignant hemangiopericytoma skos:exactMatch UMLS:C0279983 semapv:UnspecifiedMatching MONDO:0004345 childhood malignant schwannoma skos:exactMatch DOID:7732 childhood malignant schwannoma semapv:UnspecifiedMatching MONDO:0004345 childhood malignant schwannoma skos:exactMatch MEDGEN:83582 semapv:UnspecifiedMatching MONDO:0004345 childhood malignant schwannoma skos:exactMatch NCIT:C8094 Childhood Malignant Peripheral Nerve Sheath Tumor semapv:UnspecifiedMatching MONDO:0004345 childhood malignant schwannoma skos:exactMatch UMLS:C0279987 semapv:UnspecifiedMatching MONDO:0004346 signet ring cell intrahepatic cholangiocarcinoma skos:exactMatch DOID:7733 signet ring cell intrahepatic cholangiocarcinoma semapv:UnspecifiedMatching MONDO:0004346 signet ring cell intrahepatic cholangiocarcinoma skos:exactMatch MEDGEN:276815 semapv:UnspecifiedMatching MONDO:0004346 signet ring cell intrahepatic cholangiocarcinoma skos:exactMatch NCIT:C41619 Signet Ring Cell Intrahepatic Cholangiocarcinoma semapv:UnspecifiedMatching MONDO:0004346 signet ring cell intrahepatic cholangiocarcinoma skos:exactMatch UMLS:C1519321 semapv:UnspecifiedMatching MONDO:0004348 retinal telangiectasia skos:exactMatch DOID:7736 retinal telangiectasia semapv:UnspecifiedMatching MONDO:0004348 retinal telangiectasia skos:exactMatch MEDGEN:57598 semapv:UnspecifiedMatching MONDO:0004348 retinal telangiectasia skos:exactMatch SCTID:84884003 semapv:UnspecifiedMatching MONDO:0004348 retinal telangiectasia skos:exactMatch UMLS:C0154835 semapv:UnspecifiedMatching MONDO:0004349 retina lymphoma skos:exactMatch DOID:774 retina lymphoma semapv:UnspecifiedMatching MONDO:0004349 retina lymphoma skos:exactMatch MEDGEN:83291 semapv:UnspecifiedMatching MONDO:0004349 retina lymphoma skos:exactMatch NCIT:C4365 Primary Retinal Non-Hodgkin Lymphoma semapv:UnspecifiedMatching MONDO:0004349 retina lymphoma skos:exactMatch SCTID:232075002 semapv:UnspecifiedMatching MONDO:0004349 retina lymphoma skos:exactMatch UMLS:C0339556 semapv:UnspecifiedMatching MONDO:0004350 pediatric extraocular retinoblastoma skos:exactMatch DOID:7747 childhood extraocular retinoblastoma semapv:UnspecifiedMatching MONDO:0004350 pediatric extraocular retinoblastoma skos:exactMatch MEDGEN:230837 semapv:UnspecifiedMatching MONDO:0004350 pediatric extraocular retinoblastoma skos:exactMatch NCIT:C9048 Childhood Extraocular Retinoblastoma semapv:UnspecifiedMatching MONDO:0004350 pediatric extraocular retinoblastoma skos:exactMatch UMLS:C1321870 semapv:UnspecifiedMatching MONDO:0004351 intraocular lymphoma skos:exactMatch DOID:775 intraocular lymphoma semapv:UnspecifiedMatching MONDO:0004351 intraocular lymphoma skos:exactMatch MEDGEN:79344 semapv:UnspecifiedMatching MONDO:0004351 intraocular lymphoma skos:exactMatch NCIT:C9184 Primary Intraocular Non-Hodgkin Lymphoma semapv:UnspecifiedMatching MONDO:0004351 intraocular lymphoma skos:exactMatch Orphanet:279904 Primary intraocular lymphoma semapv:UnspecifiedMatching MONDO:0004351 intraocular lymphoma skos:exactMatch SCTID:420788006 semapv:UnspecifiedMatching MONDO:0004351 intraocular lymphoma skos:exactMatch UMLS:C0281658 semapv:UnspecifiedMatching MONDO:0004351 intraocular lymphoma skos:exactMatch mesh:D064090 semapv:UnspecifiedMatching MONDO:0004352 adult brain ependymoma skos:exactMatch DOID:7750 adult brain ependymoma semapv:UnspecifiedMatching MONDO:0004352 adult brain ependymoma skos:exactMatch MEDGEN:231033 semapv:UnspecifiedMatching MONDO:0004352 adult brain ependymoma skos:exactMatch NCIT:C9372 Adult Brain Ependymoma semapv:UnspecifiedMatching MONDO:0004352 adult brain ependymoma skos:exactMatch UMLS:C1332186 semapv:UnspecifiedMatching MONDO:0004353 extrahepatic biliary papillomatosis skos:exactMatch DOID:7752 extrahepatic biliary papillomatosis semapv:UnspecifiedMatching MONDO:0004353 extrahepatic biliary papillomatosis skos:exactMatch MEDGEN:232484 semapv:UnspecifiedMatching MONDO:0004353 extrahepatic biliary papillomatosis skos:exactMatch NCIT:C7124 Extrahepatic Bile Duct Intraductal Papillary Neoplasm semapv:UnspecifiedMatching MONDO:0004353 extrahepatic biliary papillomatosis skos:exactMatch UMLS:C1333511 semapv:UnspecifiedMatching MONDO:0004354 neonatal leukemia skos:exactMatch DOID:7756 neonatal leukemia semapv:UnspecifiedMatching MONDO:0004354 neonatal leukemia skos:exactMatch MEDGEN:116003 semapv:UnspecifiedMatching MONDO:0004354 neonatal leukemia skos:exactMatch NCIT:C3845 Neonatal Leukemia semapv:UnspecifiedMatching MONDO:0004354 neonatal leukemia skos:exactMatch UMLS:C0235813 semapv:UnspecifiedMatching MONDO:0004355 childhood leukemia skos:exactMatch DOID:7757 childhood leukemia semapv:UnspecifiedMatching MONDO:0004355 childhood leukemia skos:exactMatch MEDGEN:234132 semapv:UnspecifiedMatching MONDO:0004355 childhood leukemia skos:exactMatch NCIT:C4989 Childhood Leukemia semapv:UnspecifiedMatching MONDO:0004355 childhood leukemia skos:exactMatch UMLS:C1332977 semapv:UnspecifiedMatching MONDO:0004356 childhood multilocular cystic kidney neoplasm skos:exactMatch DOID:7762 childhood multilocular cystic kidney neoplasm semapv:UnspecifiedMatching MONDO:0004356 childhood multilocular cystic kidney neoplasm skos:exactMatch MEDGEN:232064 semapv:UnspecifiedMatching MONDO:0004356 childhood multilocular cystic kidney neoplasm skos:exactMatch NCIT:C6566 Childhood Multilocular Cystic Renal Neoplasm semapv:UnspecifiedMatching MONDO:0004356 childhood multilocular cystic kidney neoplasm skos:exactMatch UMLS:C1332983 semapv:UnspecifiedMatching MONDO:0004357 carcinoma of supraglottis skos:exactMatch DOID:7763 carcinoma of supraglottis semapv:UnspecifiedMatching MONDO:0004357 carcinoma of supraglottis skos:exactMatch MEDGEN:266243 semapv:UnspecifiedMatching MONDO:0004357 carcinoma of supraglottis skos:exactMatch NCIT:C5973 Supraglottic Carcinoma semapv:UnspecifiedMatching MONDO:0004357 carcinoma of supraglottis skos:exactMatch SCTID:372105009 semapv:UnspecifiedMatching MONDO:0004357 carcinoma of supraglottis skos:exactMatch UMLS:C1299240 semapv:UnspecifiedMatching MONDO:0004358 subglottis carcinoma skos:exactMatch DOID:7764 subglottis carcinoma semapv:UnspecifiedMatching MONDO:0004358 subglottis carcinoma skos:exactMatch MEDGEN:226968 semapv:UnspecifiedMatching MONDO:0004358 subglottis carcinoma skos:exactMatch NCIT:C5972 Subglottic Carcinoma semapv:UnspecifiedMatching MONDO:0004358 subglottis carcinoma skos:exactMatch SCTID:372104008 semapv:UnspecifiedMatching MONDO:0004358 subglottis carcinoma skos:exactMatch UMLS:C1299239 semapv:UnspecifiedMatching MONDO:0004359 delusional disorder skos:exactMatch DOID:778 delusional disorder semapv:UnspecifiedMatching MONDO:0004359 delusional disorder skos:exactMatch ICD10WHO:F22.0 Delusional disorder semapv:UnspecifiedMatching MONDO:0004359 delusional disorder skos:exactMatch MEDGEN:8276 semapv:UnspecifiedMatching MONDO:0004359 delusional disorder skos:exactMatch NCIT:C94379 Delusional Disorder semapv:UnspecifiedMatching MONDO:0004359 delusional disorder skos:exactMatch SCTID:48500005 semapv:UnspecifiedMatching MONDO:0004359 delusional disorder skos:exactMatch UMLS:C0011251 semapv:UnspecifiedMatching MONDO:0004359 delusional disorder skos:exactMatch icd11.foundation:1974996783 Delusional disorder semapv:UnspecifiedMatching MONDO:0004360 breast extraskeletal osteosarcoma skos:exactMatch DOID:7787 breast osteosarcoma semapv:UnspecifiedMatching MONDO:0004360 breast extraskeletal osteosarcoma skos:exactMatch MEDGEN:235414 semapv:UnspecifiedMatching MONDO:0004360 breast extraskeletal osteosarcoma skos:exactMatch NCIT:C5189 Breast Extraskeletal Osteosarcoma semapv:UnspecifiedMatching MONDO:0004360 breast extraskeletal osteosarcoma skos:exactMatch UMLS:C1335149 semapv:UnspecifiedMatching MONDO:0004361 adult spinal cord ependymoma skos:exactMatch DOID:7788 adult spinal cord ependymoma semapv:UnspecifiedMatching MONDO:0004361 adult spinal cord ependymoma skos:exactMatch MEDGEN:231359 semapv:UnspecifiedMatching MONDO:0004361 adult spinal cord ependymoma skos:exactMatch NCIT:C27399 Adult Spinal Cord Ependymoma semapv:UnspecifiedMatching MONDO:0004361 adult spinal cord ependymoma skos:exactMatch UMLS:C1332215 semapv:UnspecifiedMatching MONDO:0004363 adult spinal cord glioblastoma skos:exactMatch DOID:7806 adult spinal cord glioblastoma multiforme semapv:UnspecifiedMatching MONDO:0004363 adult spinal cord glioblastoma skos:exactMatch MEDGEN:107849 semapv:UnspecifiedMatching MONDO:0004363 adult spinal cord glioblastoma skos:exactMatch NCIT:C27183 Adult Spinal Cord Glioblastoma semapv:UnspecifiedMatching MONDO:0004363 adult spinal cord glioblastoma skos:exactMatch SCTID:276829003 semapv:UnspecifiedMatching MONDO:0004363 adult spinal cord glioblastoma skos:exactMatch UMLS:C0559185 semapv:UnspecifiedMatching MONDO:0004364 choroid necrotic melanoma skos:exactMatch DOID:7807 choroid necrotic melanoma semapv:UnspecifiedMatching MONDO:0004364 choroid necrotic melanoma skos:exactMatch MEDGEN:232362 semapv:UnspecifiedMatching MONDO:0004364 choroid necrotic melanoma skos:exactMatch NCIT:C6865 Choroid Necrotic Melanoma semapv:UnspecifiedMatching MONDO:0004364 choroid necrotic melanoma skos:exactMatch UMLS:C1333026 semapv:UnspecifiedMatching MONDO:0004365 necrotic uveal melanoma skos:exactMatch DOID:7808 necrotic uveal melanoma semapv:UnspecifiedMatching MONDO:0004365 necrotic uveal melanoma skos:exactMatch MEDGEN:1669717 semapv:UnspecifiedMatching MONDO:0004365 necrotic uveal melanoma skos:exactMatch NCIT:C7990 Uveal Necrotic Melanoma semapv:UnspecifiedMatching MONDO:0004365 necrotic uveal melanoma skos:exactMatch UMLS:C0279695 semapv:UnspecifiedMatching MONDO:0004366 mixed astrocytoma-ependymoma-oligodendroglioma skos:exactMatch DOID:7817 mixed astrocytoma-ependymoma-oligodendroglioma semapv:UnspecifiedMatching MONDO:0004366 mixed astrocytoma-ependymoma-oligodendroglioma skos:exactMatch MEDGEN:79184 semapv:UnspecifiedMatching MONDO:0004366 mixed astrocytoma-ependymoma-oligodendroglioma skos:exactMatch NCIT:C8272 Mixed Astrocytoma-Ependymoma-Oligodendroglioma semapv:UnspecifiedMatching MONDO:0004366 mixed astrocytoma-ependymoma-oligodendroglioma skos:exactMatch UMLS:C0280792 semapv:UnspecifiedMatching MONDO:0004367 petroclival meningioma skos:exactMatch DOID:7818 petroclival meningioma semapv:UnspecifiedMatching MONDO:0004367 petroclival meningioma skos:exactMatch MEDGEN:277511 semapv:UnspecifiedMatching MONDO:0004367 petroclival meningioma skos:exactMatch NCIT:C5278 Petroclival Meningioma semapv:UnspecifiedMatching MONDO:0004367 petroclival meningioma skos:exactMatch UMLS:C1335395 semapv:UnspecifiedMatching MONDO:0004368 sphenoorbital meningioma skos:exactMatch DOID:7819 sphenoorbital meningioma semapv:UnspecifiedMatching MONDO:0004368 sphenoorbital meningioma skos:exactMatch MEDGEN:233458 semapv:UnspecifiedMatching MONDO:0004368 sphenoorbital meningioma skos:exactMatch NCIT:C5285 Sphenoorbital Meningioma semapv:UnspecifiedMatching MONDO:0004368 sphenoorbital meningioma skos:exactMatch UMLS:C1336040 semapv:UnspecifiedMatching MONDO:0004369 renal infectious disease skos:exactMatch DOID:782 renal infectious disease semapv:UnspecifiedMatching MONDO:0004369 renal infectious disease skos:exactMatch MEDGEN:507844 semapv:UnspecifiedMatching MONDO:0004369 renal infectious disease skos:exactMatch UMLS:C0021313 semapv:UnspecifiedMatching MONDO:0004370 sphenocavernous meningioma skos:exactMatch DOID:7820 sphenocavernous meningioma semapv:UnspecifiedMatching MONDO:0004370 sphenocavernous meningioma skos:exactMatch MEDGEN:234801 semapv:UnspecifiedMatching MONDO:0004370 sphenocavernous meningioma skos:exactMatch NCIT:C5313 Sphenocavernous Meningioma semapv:UnspecifiedMatching MONDO:0004370 sphenocavernous meningioma skos:exactMatch UMLS:C1336036 semapv:UnspecifiedMatching MONDO:0004371 spinal multifocal clear cell meningioma skos:exactMatch DOID:7824 spinal multifocal clear cell meningioma semapv:UnspecifiedMatching MONDO:0004371 spinal multifocal clear cell meningioma skos:exactMatch MEDGEN:277661 semapv:UnspecifiedMatching MONDO:0004371 spinal multifocal clear cell meningioma skos:exactMatch NCIT:C5287 Spinal Cord Multifocal Clear Cell Meningioma semapv:UnspecifiedMatching MONDO:0004371 spinal multifocal clear cell meningioma skos:exactMatch UMLS:C1336051 semapv:UnspecifiedMatching MONDO:0004372 chronic toxic polyneuropathy skos:exactMatch DOID:7825 chronic toxic polyneuropathy semapv:UnspecifiedMatching MONDO:0004372 chronic toxic polyneuropathy skos:exactMatch MEDGEN:234149 semapv:UnspecifiedMatching MONDO:0004372 chronic toxic polyneuropathy skos:exactMatch NCIT:C35603 Chronic Toxic Polyneuropathy semapv:UnspecifiedMatching MONDO:0004372 chronic toxic polyneuropathy skos:exactMatch UMLS:C1333048 semapv:UnspecifiedMatching MONDO:0004373 adult papillary meningioma skos:exactMatch DOID:7826 adult papillary meningioma semapv:UnspecifiedMatching MONDO:0004373 adult papillary meningioma skos:exactMatch MEDGEN:76256 semapv:UnspecifiedMatching MONDO:0004373 adult papillary meningioma skos:exactMatch NCIT:C8293 Adult Papillary Meningioma semapv:UnspecifiedMatching MONDO:0004373 adult papillary meningioma skos:exactMatch UMLS:C0281334 semapv:UnspecifiedMatching MONDO:0004374 adult extraskeletal osteosarcoma skos:exactMatch DOID:7827 adult extraosseous osteosarcoma semapv:UnspecifiedMatching MONDO:0004374 adult extraskeletal osteosarcoma skos:exactMatch MEDGEN:83016 semapv:UnspecifiedMatching MONDO:0004374 adult extraskeletal osteosarcoma skos:exactMatch NCIT:C7925 Adult Extraskeletal Osteosarcoma semapv:UnspecifiedMatching MONDO:0004374 adult extraskeletal osteosarcoma skos:exactMatch UMLS:C0278985 semapv:UnspecifiedMatching MONDO:0004375 end stage renal failure skos:exactMatch DOID:783 end stage renal disease semapv:UnspecifiedMatching MONDO:0004375 end stage renal failure skos:exactMatch ICD10CM:N18.5 Chronic kidney disease, stage 5 semapv:UnspecifiedMatching MONDO:0004375 end stage renal failure skos:exactMatch ICD10CM:N18.6 End stage renal disease semapv:UnspecifiedMatching MONDO:0004375 end stage renal failure skos:exactMatch MEDGEN:384526 semapv:UnspecifiedMatching MONDO:0004375 end stage renal failure skos:exactMatch NCIT:C9439 Chronic Kidney Disease, Stage 5 semapv:UnspecifiedMatching MONDO:0004375 end stage renal failure skos:exactMatch SCTID:46177005 semapv:UnspecifiedMatching MONDO:0004375 end stage renal failure skos:exactMatch UMLS:C2316810 semapv:UnspecifiedMatching MONDO:0004376 infiltrating nipple syringomatous adenoma skos:exactMatch DOID:7839 infiltrating nipple syringomatous adenoma semapv:UnspecifiedMatching MONDO:0004376 infiltrating nipple syringomatous adenoma skos:exactMatch MEDGEN:825590 semapv:UnspecifiedMatching MONDO:0004376 infiltrating nipple syringomatous adenoma skos:exactMatch NCIT:C40363 Nipple Syringomatous Tumor semapv:UnspecifiedMatching MONDO:0004376 infiltrating nipple syringomatous adenoma skos:exactMatch UMLS:C3839745 semapv:UnspecifiedMatching MONDO:0004377 pancreatic non-functioning delta cell tumor skos:exactMatch DOID:7840 pancreatic non-functioning delta cell tumor semapv:UnspecifiedMatching MONDO:0004377 pancreatic non-functioning delta cell tumor skos:exactMatch MEDGEN:235453 semapv:UnspecifiedMatching MONDO:0004377 pancreatic non-functioning delta cell tumor skos:exactMatch NCIT:C28333 Non-Functioning Pancreatic Delta Cell Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO:0004377 pancreatic non-functioning delta cell tumor skos:exactMatch UMLS:C1335311 semapv:UnspecifiedMatching MONDO:0004378 pediatric cerebral ependymoblastoma skos:exactMatch DOID:7841 childhood embryonal tumor with multilayered rosettes, C19MC-altered semapv:UnspecifiedMatching MONDO:0004378 pediatric cerebral ependymoblastoma skos:exactMatch MEDGEN:234125 semapv:UnspecifiedMatching MONDO:0004378 pediatric cerebral ependymoblastoma skos:exactMatch NCIT:C6957 Childhood Cerebral Embryonal Tumor with Multilayered Rosettes, C19MC-Altered semapv:UnspecifiedMatching MONDO:0004378 pediatric cerebral ependymoblastoma skos:exactMatch UMLS:C1332962 semapv:UnspecifiedMatching MONDO:0004379 female breast carcinoma skos:exactMatch DOID:0050671 female breast cancer semapv:UnspecifiedMatching MONDO:0004379 female breast carcinoma skos:exactMatch DOID:7843 female breast carcinoma semapv:UnspecifiedMatching MONDO:0004379 female breast carcinoma skos:exactMatch MEDGEN:40099 semapv:UnspecifiedMatching MONDO:0004379 female breast carcinoma skos:exactMatch NCIT:C2918 Female Breast Carcinoma semapv:UnspecifiedMatching MONDO:0004379 female breast carcinoma skos:exactMatch SCTID:372064008 semapv:UnspecifiedMatching MONDO:0004379 female breast carcinoma skos:exactMatch SCTID:447782002 semapv:UnspecifiedMatching MONDO:0004379 female breast carcinoma skos:exactMatch UMLS:C0007104 semapv:UnspecifiedMatching MONDO:0004380 dendritic cell sarcoma skos:exactMatch DOID:7849 dendritic cell sarcoma semapv:UnspecifiedMatching MONDO:0004380 dendritic cell sarcoma skos:exactMatch MEDGEN:226984 semapv:UnspecifiedMatching MONDO:0004380 dendritic cell sarcoma skos:exactMatch NCIT:C27260 Dendritic Cell Tumor, Not Otherwise Specified semapv:UnspecifiedMatching MONDO:0004380 dendritic cell sarcoma skos:exactMatch Orphanet:86903 Dendritic cell sarcoma not otherwise specified semapv:UnspecifiedMatching MONDO:0004380 dendritic cell sarcoma skos:exactMatch SCTID:446643000 semapv:UnspecifiedMatching MONDO:0004380 dendritic cell sarcoma skos:exactMatch UMLS:C1301364 semapv:UnspecifiedMatching MONDO:0004381 pancreatic intraductal papillary-mucinous neoplasm with low grade dysplasia skos:exactMatch DOID:7851 pancreatic intraductal papillary-mucinous adenoma semapv:UnspecifiedMatching MONDO:0004381 pancreatic intraductal papillary-mucinous neoplasm with low grade dysplasia skos:exactMatch MEDGEN:274118 semapv:UnspecifiedMatching MONDO:0004381 pancreatic intraductal papillary-mucinous neoplasm with low grade dysplasia skos:exactMatch NCIT:C41249 Pancreatic Intraductal Papillary-Mucinous Neoplasm, Low Grade semapv:UnspecifiedMatching MONDO:0004381 pancreatic intraductal papillary-mucinous neoplasm with low grade dysplasia skos:exactMatch SCTID:473418001 semapv:UnspecifiedMatching MONDO:0004381 pancreatic intraductal papillary-mucinous neoplasm with low grade dysplasia skos:exactMatch UMLS:C1518868 semapv:UnspecifiedMatching MONDO:0004382 laryngeal disorder skos:exactMatch DOID:786 laryngeal disease semapv:UnspecifiedMatching MONDO:0004382 laryngeal disorder skos:exactMatch EFO:0009673 semapv:UnspecifiedMatching MONDO:0004382 laryngeal disorder skos:exactMatch MEDGEN:7268 semapv:UnspecifiedMatching MONDO:0004382 laryngeal disorder skos:exactMatch NCIT:C26810 Laryngeal Disorder semapv:UnspecifiedMatching MONDO:0004382 laryngeal disorder skos:exactMatch SCTID:60600009 semapv:UnspecifiedMatching MONDO:0004382 laryngeal disorder skos:exactMatch UMLS:C0023051 semapv:UnspecifiedMatching MONDO:0004382 laryngeal disorder skos:exactMatch mesh:D007818 semapv:UnspecifiedMatching MONDO:0004383 adult central nervous system germinoma skos:exactMatch DOID:7867 adult central nervous system germinoma semapv:UnspecifiedMatching MONDO:0004383 adult central nervous system germinoma skos:exactMatch MEDGEN:234581 semapv:UnspecifiedMatching MONDO:0004383 adult central nervous system germinoma skos:exactMatch NCIT:C5792 Adult Central Nervous System Germinoma semapv:UnspecifiedMatching MONDO:0004383 adult central nervous system germinoma skos:exactMatch UMLS:C1370504 semapv:UnspecifiedMatching MONDO:0004384 maxillary sinus inverted papilloma skos:exactMatch DOID:7868 maxillary sinus inverted papilloma semapv:UnspecifiedMatching MONDO:0004384 maxillary sinus inverted papilloma skos:exactMatch MEDGEN:277347 semapv:UnspecifiedMatching MONDO:0004384 maxillary sinus inverted papilloma skos:exactMatch NCIT:C6840 Maxillary Sinus Inverted Papilloma semapv:UnspecifiedMatching MONDO:0004384 maxillary sinus inverted papilloma skos:exactMatch UMLS:C1334645 semapv:UnspecifiedMatching MONDO:0004385 adult xanthogranuloma skos:exactMatch DOID:7875 adult xanthogranuloma semapv:UnspecifiedMatching MONDO:0004385 adult xanthogranuloma skos:exactMatch MEDGEN:231363 semapv:UnspecifiedMatching MONDO:0004385 adult xanthogranuloma skos:exactMatch NCIT:C27514 Cutaneous Adult Xanthogranuloma semapv:UnspecifiedMatching MONDO:0004385 adult xanthogranuloma skos:exactMatch UMLS:C1332220 semapv:UnspecifiedMatching MONDO:0004386 uterine corpus atypical polypoid adenomyoma skos:exactMatch DOID:7878 uterine corpus atypical polypoid adenomyoma semapv:UnspecifiedMatching MONDO:0004386 uterine corpus atypical polypoid adenomyoma skos:exactMatch MEDGEN:276937 semapv:UnspecifiedMatching MONDO:0004386 uterine corpus atypical polypoid adenomyoma skos:exactMatch NCIT:C40235 Uterine Corpus Atypical Polypoid Adenomyoma semapv:UnspecifiedMatching MONDO:0004386 uterine corpus atypical polypoid adenomyoma skos:exactMatch UMLS:C1519844 semapv:UnspecifiedMatching MONDO:0004387 luteoma of pregnancy skos:exactMatch DOID:7880 luteoma semapv:UnspecifiedMatching MONDO:0004387 luteoma of pregnancy skos:exactMatch MEDGEN:137726 semapv:UnspecifiedMatching MONDO:0004387 luteoma of pregnancy skos:exactMatch NCIT:C40445 Leuteoma of Pregnancy semapv:UnspecifiedMatching MONDO:0004387 luteoma of pregnancy skos:exactMatch UMLS:C0334209 semapv:UnspecifiedMatching MONDO:0004387 luteoma of pregnancy skos:exactMatch mesh:D018311 semapv:UnspecifiedMatching MONDO:0004389 mite infestation skos:exactMatch DOID:7894 mite infestation semapv:UnspecifiedMatching MONDO:0004389 mite infestation skos:exactMatch MEDGEN:7661 semapv:UnspecifiedMatching MONDO:0004389 mite infestation skos:exactMatch SCTID:240885009 semapv:UnspecifiedMatching MONDO:0004389 mite infestation skos:exactMatch UMLS:C0026229 semapv:UnspecifiedMatching MONDO:0004389 mite infestation skos:exactMatch mesh:D008924 semapv:UnspecifiedMatching MONDO:0004390 ocular hypotension skos:exactMatch DOID:790 ocular hypotension semapv:UnspecifiedMatching MONDO:0004390 ocular hypotension skos:exactMatch ICD10CM:H44.4 Hypotony of eye semapv:UnspecifiedMatching MONDO:0004390 ocular hypotension skos:exactMatch MEDGEN:10424 semapv:UnspecifiedMatching MONDO:0004390 ocular hypotension skos:exactMatch SCTID:19721008 semapv:UnspecifiedMatching MONDO:0004390 ocular hypotension skos:exactMatch UMLS:C0028841 semapv:UnspecifiedMatching MONDO:0004390 ocular hypotension skos:exactMatch mesh:D015814 semapv:UnspecifiedMatching MONDO:0004391 obsolete adult extraosseous chondrosarcoma skos:exactMatch DOID:7902 adult extraskeletal myxoid chondrosarcoma semapv:UnspecifiedMatching MONDO:0004392 intracranial extraskeletal myxoid chondrosarcoma skos:exactMatch DOID:7903 intracranial chondrosarcoma semapv:UnspecifiedMatching MONDO:0004392 intracranial extraskeletal myxoid chondrosarcoma skos:exactMatch MEDGEN:232660 semapv:UnspecifiedMatching MONDO:0004392 intracranial extraskeletal myxoid chondrosarcoma skos:exactMatch NCIT:C5462 Brain Extraskeletal Myxoid Chondrosarcoma semapv:UnspecifiedMatching MONDO:0004392 intracranial extraskeletal myxoid chondrosarcoma skos:exactMatch UMLS:C1334238 semapv:UnspecifiedMatching MONDO:0004393 mixed astrocytoma-ependymoma skos:exactMatch DOID:7907 mixed astrocytoma-ependymoma semapv:UnspecifiedMatching MONDO:0004393 mixed astrocytoma-ependymoma skos:exactMatch MEDGEN:76166 semapv:UnspecifiedMatching MONDO:0004393 mixed astrocytoma-ependymoma skos:exactMatch NCIT:C8271 Mixed Astrocytoma-Ependymoma semapv:UnspecifiedMatching MONDO:0004393 mixed astrocytoma-ependymoma skos:exactMatch UMLS:C0280791 semapv:UnspecifiedMatching MONDO:0004394 maxillary sinus squamous cell carcinoma skos:exactMatch DOID:7910 maxillary sinus squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0004394 maxillary sinus squamous cell carcinoma skos:exactMatch MEDGEN:277348 semapv:UnspecifiedMatching MONDO:0004394 maxillary sinus squamous cell carcinoma skos:exactMatch NCIT:C6064 Maxillary Sinus Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0004394 maxillary sinus squamous cell carcinoma skos:exactMatch SCTID:707354003 semapv:UnspecifiedMatching MONDO:0004394 maxillary sinus squamous cell carcinoma skos:exactMatch UMLS:C1334647 semapv:UnspecifiedMatching MONDO:0004394 maxillary sinus squamous cell carcinoma skos:exactMatch icd11.foundation:1253589818 Squamous cell carcinoma of maxillary sinus semapv:UnspecifiedMatching MONDO:0004396 cervical spinal canal and spinal cord meningioma skos:exactMatch DOID:7915 cervical spinal canal and spinal cord meningioma semapv:UnspecifiedMatching MONDO:0004396 cervical spinal canal and spinal cord meningioma skos:exactMatch MEDGEN:272451 semapv:UnspecifiedMatching MONDO:0004396 cervical spinal canal and spinal cord meningioma skos:exactMatch NCIT:C5296 Cervical Spinal Cord Meningioma semapv:UnspecifiedMatching MONDO:0004396 cervical spinal canal and spinal cord meningioma skos:exactMatch UMLS:C1332916 semapv:UnspecifiedMatching MONDO:0004397 benign mediastinal psammomatous neurilemmoma skos:exactMatch DOID:7921 mediastinal psammomatous neurilemmoma semapv:UnspecifiedMatching MONDO:0004397 benign mediastinal psammomatous neurilemmoma skos:exactMatch MEDGEN:231937 semapv:UnspecifiedMatching MONDO:0004397 benign mediastinal psammomatous neurilemmoma skos:exactMatch NCIT:C6636 Mediastinal Psammomatous Schwannoma semapv:UnspecifiedMatching MONDO:0004397 benign mediastinal psammomatous neurilemmoma skos:exactMatch UMLS:C1332513 semapv:UnspecifiedMatching MONDO:0004398 mediastinal schwannoma skos:exactMatch DOID:6175 mediastinal neurilemmoma semapv:UnspecifiedMatching MONDO:0004398 mediastinal schwannoma skos:exactMatch DOID:7922 obsolete benign mediastinal neurilemmoma semapv:UnspecifiedMatching MONDO:0004398 mediastinal schwannoma skos:exactMatch MEDGEN:233688 semapv:UnspecifiedMatching MONDO:0004398 mediastinal schwannoma skos:exactMatch NCIT:C6643 Mediastinal Schwannoma semapv:UnspecifiedMatching MONDO:0004398 mediastinal schwannoma skos:exactMatch UMLS:C1334679 semapv:UnspecifiedMatching MONDO:0004400 malignant type A thymoma skos:exactMatch DOID:7927 malignant type A thymoma semapv:UnspecifiedMatching MONDO:0004400 malignant type A thymoma skos:exactMatch MEDGEN:79027 semapv:UnspecifiedMatching MONDO:0004400 malignant type A thymoma skos:exactMatch NCIT:C7999 Malignant Type A Thymoma semapv:UnspecifiedMatching MONDO:0004400 malignant type A thymoma skos:exactMatch UMLS:C0279707 semapv:UnspecifiedMatching MONDO:0004401 testis refractory cancer skos:exactMatch DOID:7928 testis refractory cancer semapv:UnspecifiedMatching MONDO:0004401 testis refractory cancer skos:exactMatch MEDGEN:235122 semapv:UnspecifiedMatching MONDO:0004401 testis refractory cancer skos:exactMatch NCIT:C9077 Refractory Malignant Testicular Germ Cell Tumor semapv:UnspecifiedMatching MONDO:0004401 testis refractory cancer skos:exactMatch UMLS:C1377904 semapv:UnspecifiedMatching MONDO:0004402 testicular yolk sac tumor, glandular-alveolar pattern skos:exactMatch DOID:7930 glandular-alveolar pattern testicular yolk sac tumor semapv:UnspecifiedMatching MONDO:0004402 testicular yolk sac tumor, glandular-alveolar pattern skos:exactMatch MEDGEN:273637 semapv:UnspecifiedMatching MONDO:0004402 testicular yolk sac tumor, glandular-alveolar pattern skos:exactMatch NCIT:C39926 Testicular Yolk Sac Tumor, Glandular-Alveolar Pattern semapv:UnspecifiedMatching MONDO:0004402 testicular yolk sac tumor, glandular-alveolar pattern skos:exactMatch UMLS:C1515305 semapv:UnspecifiedMatching MONDO:0004403 childhood precursor T-lymphoblastic lymphoma/leukemia skos:exactMatch MEDGEN:232067 semapv:UnspecifiedMatching MONDO:0004403 childhood precursor T-lymphoblastic lymphoma/leukemia skos:exactMatch NCIT:C5640 Childhood T Lymphoblastic Leukemia/Lymphoma semapv:UnspecifiedMatching MONDO:0004403 childhood precursor T-lymphoblastic lymphoma/leukemia skos:exactMatch UMLS:C1332997 semapv:UnspecifiedMatching MONDO:0004404 refractory precursor T-lymphoblastic lymphoma/leukemia skos:exactMatch DOID:7936 refractory T lymphoblastic leukemia/lymphoma semapv:UnspecifiedMatching MONDO:0004404 refractory precursor T-lymphoblastic lymphoma/leukemia skos:exactMatch MEDGEN:167728 semapv:UnspecifiedMatching MONDO:0004404 refractory precursor T-lymphoblastic lymphoma/leukemia skos:exactMatch NCIT:C8696 Refractory T Lymphoblastic Leukemia/Lymphoma semapv:UnspecifiedMatching MONDO:0004404 refractory precursor T-lymphoblastic lymphoma/leukemia skos:exactMatch UMLS:C0854859 semapv:UnspecifiedMatching MONDO:0004405 Barrett adenocarcinoma skos:exactMatch DOID:7941 Barrett's adenocarcinoma semapv:UnspecifiedMatching MONDO:0004405 Barrett adenocarcinoma skos:exactMatch EFO:1001939 semapv:UnspecifiedMatching MONDO:0004405 Barrett adenocarcinoma skos:exactMatch MEDGEN:272350 semapv:UnspecifiedMatching MONDO:0004405 Barrett adenocarcinoma skos:exactMatch NCIT:C7027 Barrett Adenocarcinoma semapv:UnspecifiedMatching MONDO:0004405 Barrett adenocarcinoma skos:exactMatch SCTID:721617001 semapv:UnspecifiedMatching MONDO:0004405 Barrett adenocarcinoma skos:exactMatch UMLS:C1332460 semapv:UnspecifiedMatching MONDO:0004405 Barrett adenocarcinoma skos:exactMatch icd11.foundation:1934528268 Barrett adenocarcinoma semapv:UnspecifiedMatching MONDO:0004406 adult central nervous system mixed germ cell tumor skos:exactMatch DOID:7945 adult central nervous system mixed germ cell tumor semapv:UnspecifiedMatching MONDO:0004406 adult central nervous system mixed germ cell tumor skos:exactMatch MEDGEN:231038 semapv:UnspecifiedMatching MONDO:0004406 adult central nervous system mixed germ cell tumor skos:exactMatch NCIT:C27402 Adult Central Nervous System Mixed Germ Cell Tumor semapv:UnspecifiedMatching MONDO:0004406 adult central nervous system mixed germ cell tumor skos:exactMatch UMLS:C1332195 semapv:UnspecifiedMatching MONDO:0004407 stroma-dominant and stroma-poor composite ganglioneuroblastoma skos:exactMatch DOID:7949 stroma-dominant and stroma-poor composite ganglioneuroblastoma semapv:UnspecifiedMatching MONDO:0004407 stroma-dominant and stroma-poor composite ganglioneuroblastoma skos:exactMatch MEDGEN:275793 semapv:UnspecifiedMatching MONDO:0004407 stroma-dominant and stroma-poor composite ganglioneuroblastoma skos:exactMatch NCIT:C42060 Composite Ganglioneuroblastoma, Stroma-Dominant and Stroma-Poor semapv:UnspecifiedMatching MONDO:0004407 stroma-dominant and stroma-poor composite ganglioneuroblastoma skos:exactMatch UMLS:C1516761 semapv:UnspecifiedMatching MONDO:0004408 schwannian stroma-rich and stroma-poor composite ganglioneuroblastoma skos:exactMatch DOID:7951 Schwannian stroma-rich and stroma-poor composite ganglioneuroblastoma semapv:UnspecifiedMatching MONDO:0004408 schwannian stroma-rich and stroma-poor composite ganglioneuroblastoma skos:exactMatch MEDGEN:275792 semapv:UnspecifiedMatching MONDO:0004408 schwannian stroma-rich and stroma-poor composite ganglioneuroblastoma skos:exactMatch NCIT:C42059 Composite Ganglioneuroblastoma, Schwannian Stroma-Rich and Stroma-Poor semapv:UnspecifiedMatching MONDO:0004408 schwannian stroma-rich and stroma-poor composite ganglioneuroblastoma skos:exactMatch UMLS:C1516760 semapv:UnspecifiedMatching MONDO:0004409 nipple duct carcinoma skos:exactMatch DOID:7953 nipple duct carcinoma semapv:UnspecifiedMatching MONDO:0004409 nipple duct carcinoma skos:exactMatch MEDGEN:233757 semapv:UnspecifiedMatching MONDO:0004409 nipple duct carcinoma skos:exactMatch NCIT:C27234 Nipple Duct Carcinoma semapv:UnspecifiedMatching MONDO:0004409 nipple duct carcinoma skos:exactMatch UMLS:C1334967 semapv:UnspecifiedMatching MONDO:0004410 sarcomatoid penile squamous cell carcinoma skos:exactMatch DOID:7958 sarcomatoid penile squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0004410 sarcomatoid penile squamous cell carcinoma skos:exactMatch MEDGEN:235580 semapv:UnspecifiedMatching MONDO:0004410 sarcomatoid penile squamous cell carcinoma skos:exactMatch NCIT:C6984 Penile Sarcomatoid Carcinoma semapv:UnspecifiedMatching MONDO:0004410 sarcomatoid penile squamous cell carcinoma skos:exactMatch UMLS:C1335923 semapv:UnspecifiedMatching MONDO:0004411 duodenal gastrin-producing neuroendocrine tumor skos:exactMatch DOID:7959 duodenal gastrinoma semapv:UnspecifiedMatching MONDO:0004411 duodenal gastrin-producing neuroendocrine tumor skos:exactMatch MEDGEN:272550 semapv:UnspecifiedMatching MONDO:0004411 duodenal gastrin-producing neuroendocrine tumor skos:exactMatch NCIT:C5731 Duodenal Gastrin-Producing Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO:0004411 duodenal gastrin-producing neuroendocrine tumor skos:exactMatch UMLS:C1333321 semapv:UnspecifiedMatching MONDO:0004412 malignant spiradenoma skos:exactMatch DOID:7960 malignant spiradenoma semapv:UnspecifiedMatching MONDO:0004412 malignant spiradenoma skos:exactMatch MEDGEN:266097 semapv:UnspecifiedMatching MONDO:0004412 malignant spiradenoma skos:exactMatch NCIT:C5117 Carcinoma Arising from Spiradenoma semapv:UnspecifiedMatching MONDO:0004412 malignant spiradenoma skos:exactMatch SCTID:403942003 semapv:UnspecifiedMatching MONDO:0004412 malignant spiradenoma skos:exactMatch UMLS:C1266063 semapv:UnspecifiedMatching MONDO:0004413 cervical non-keratinizing squamous cell carcinoma skos:exactMatch DOID:7961 cervical non-keratinizing squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0004413 cervical non-keratinizing squamous cell carcinoma skos:exactMatch MEDGEN:309426 semapv:UnspecifiedMatching MONDO:0004413 cervical non-keratinizing squamous cell carcinoma skos:exactMatch NCIT:C40188 Cervical Non-Keratinizing Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0004413 cervical non-keratinizing squamous cell carcinoma skos:exactMatch UMLS:C1518366 semapv:UnspecifiedMatching MONDO:0004414 tamoxifen-related endometrial lesion skos:exactMatch DOID:7962 tamoxifen-related endometrial lesion semapv:UnspecifiedMatching MONDO:0004414 tamoxifen-related endometrial lesion skos:exactMatch MEDGEN:271571 semapv:UnspecifiedMatching MONDO:0004414 tamoxifen-related endometrial lesion skos:exactMatch NCIT:C40159 Tamoxifen-Related Endometrial Disorder semapv:UnspecifiedMatching MONDO:0004414 tamoxifen-related endometrial lesion skos:exactMatch UMLS:C1515212 semapv:UnspecifiedMatching MONDO:0004415 lipid-cell variant infiltrating bladder urothelial carcinoma skos:exactMatch DOID:7967 lipid-cell variant infiltrating bladder urothelial carcinoma semapv:UnspecifiedMatching MONDO:0004415 lipid-cell variant infiltrating bladder urothelial carcinoma skos:exactMatch MEDGEN:268928 semapv:UnspecifiedMatching MONDO:0004415 lipid-cell variant infiltrating bladder urothelial carcinoma skos:exactMatch NCIT:C39828 Invasive Bladder Lipid-Rich Urothelial Carcinoma semapv:UnspecifiedMatching MONDO:0004415 lipid-cell variant infiltrating bladder urothelial carcinoma skos:exactMatch UMLS:C1512738 semapv:UnspecifiedMatching MONDO:0004416 plasmacytoid variant infiltrating bladder urothelial carcinoma skos:exactMatch DOID:7968 plasmacytoid variant infiltrating bladder urothelial carcinoma semapv:UnspecifiedMatching MONDO:0004416 plasmacytoid variant infiltrating bladder urothelial carcinoma skos:exactMatch MEDGEN:268576 semapv:UnspecifiedMatching MONDO:0004416 plasmacytoid variant infiltrating bladder urothelial carcinoma skos:exactMatch NCIT:C39823 Invasive Bladder Plasmacytoid Urothelial Carcinoma semapv:UnspecifiedMatching MONDO:0004416 plasmacytoid variant infiltrating bladder urothelial carcinoma skos:exactMatch UMLS:C1512742 semapv:UnspecifiedMatching MONDO:0004417 nested variant infiltrating bladder urothelial carcinoma skos:exactMatch DOID:7969 nested variant infiltrating bladder urothelial carcinoma semapv:UnspecifiedMatching MONDO:0004417 nested variant infiltrating bladder urothelial carcinoma skos:exactMatch MEDGEN:268575 semapv:UnspecifiedMatching MONDO:0004417 nested variant infiltrating bladder urothelial carcinoma skos:exactMatch NCIT:C39819 Invasive Bladder Nested Urothelial Carcinoma semapv:UnspecifiedMatching MONDO:0004417 nested variant infiltrating bladder urothelial carcinoma skos:exactMatch UMLS:C1512741 semapv:UnspecifiedMatching MONDO:0004418 microcystic variant infiltrating bladder urothelial carcinoma skos:exactMatch DOID:7971 microcystic variant infiltrating bladder urothelial carcinoma semapv:UnspecifiedMatching MONDO:0004418 microcystic variant infiltrating bladder urothelial carcinoma skos:exactMatch MEDGEN:268574 semapv:UnspecifiedMatching MONDO:0004418 microcystic variant infiltrating bladder urothelial carcinoma skos:exactMatch NCIT:C39820 Invasive Bladder Microcystic Urothelial Carcinoma semapv:UnspecifiedMatching MONDO:0004418 microcystic variant infiltrating bladder urothelial carcinoma skos:exactMatch UMLS:C1512740 semapv:UnspecifiedMatching MONDO:0004419 lymphoma-like variant infiltrating bladder urothelial carcinoma skos:exactMatch DOID:7972 lymphoma-like variant infiltrating bladder urothelial carcinoma semapv:UnspecifiedMatching MONDO:0004420 breast malignant eccrine spiradenoma skos:exactMatch DOID:7983 breast malignant eccrine spiradenoma semapv:UnspecifiedMatching MONDO:0004420 breast malignant eccrine spiradenoma skos:exactMatch MEDGEN:277329 semapv:UnspecifiedMatching MONDO:0004420 breast malignant eccrine spiradenoma skos:exactMatch NCIT:C5180 Carcinoma Arising from Breast Spiradenoma semapv:UnspecifiedMatching MONDO:0004420 breast malignant eccrine spiradenoma skos:exactMatch UMLS:C1334565 semapv:UnspecifiedMatching MONDO:0004421 sclerosing breast papilloma skos:exactMatch DOID:7984 sclerosing breast papilloma semapv:UnspecifiedMatching MONDO:0004421 sclerosing breast papilloma skos:exactMatch MEDGEN:233436 semapv:UnspecifiedMatching MONDO:0004421 sclerosing breast papilloma skos:exactMatch NCIT:C27944 Breast Sclerosing Papilloma semapv:UnspecifiedMatching MONDO:0004421 sclerosing breast papilloma skos:exactMatch UMLS:C1335932 semapv:UnspecifiedMatching MONDO:0004422 cerebral falx meningioma skos:exactMatch DOID:7986 cerebral falx meningioma semapv:UnspecifiedMatching MONDO:0004422 cerebral falx meningioma skos:exactMatch MEDGEN:272627 semapv:UnspecifiedMatching MONDO:0004422 cerebral falx meningioma skos:exactMatch NCIT:C5267 Falx Cerebri Meningioma semapv:UnspecifiedMatching MONDO:0004422 cerebral falx meningioma skos:exactMatch UMLS:C1333597 semapv:UnspecifiedMatching MONDO:0004423 central nervous system extraskeletal osteosarcoma skos:exactMatch DOID:7994 central nervous system osteosarcoma semapv:UnspecifiedMatching MONDO:0004423 central nervous system extraskeletal osteosarcoma skos:exactMatch MEDGEN:233803 semapv:UnspecifiedMatching MONDO:0004423 central nervous system extraskeletal osteosarcoma skos:exactMatch NCIT:C7002 Central Nervous System Extraskeletal Osteosarcoma semapv:UnspecifiedMatching MONDO:0004423 central nervous system extraskeletal osteosarcoma skos:exactMatch UMLS:C1335150 semapv:UnspecifiedMatching MONDO:0004425 hyperthyroidism skos:exactMatch DOID:7998 hyperthyroidism semapv:UnspecifiedMatching MONDO:0004425 hyperthyroidism skos:exactMatch EFO:0009189 semapv:UnspecifiedMatching MONDO:0004425 hyperthyroidism skos:exactMatch MEDGEN:6972 semapv:UnspecifiedMatching MONDO:0004425 hyperthyroidism skos:exactMatch NCIT:C3123 Hyperthyroidism semapv:UnspecifiedMatching MONDO:0004425 hyperthyroidism skos:exactMatch SCTID:34486009 semapv:UnspecifiedMatching MONDO:0004425 hyperthyroidism skos:exactMatch UMLS:C0020550 semapv:UnspecifiedMatching MONDO:0004425 hyperthyroidism skos:exactMatch mesh:D006980 semapv:UnspecifiedMatching MONDO:0004426 frontal convexity meningioma skos:exactMatch DOID:8000 frontal convexity meningioma semapv:UnspecifiedMatching MONDO:0004426 frontal convexity meningioma skos:exactMatch MEDGEN:234272 semapv:UnspecifiedMatching MONDO:0004426 frontal convexity meningioma skos:exactMatch NCIT:C5292 Frontal Convexity Meningioma semapv:UnspecifiedMatching MONDO:0004426 frontal convexity meningioma skos:exactMatch UMLS:C1333643 semapv:UnspecifiedMatching MONDO:0004427 supraglottis neoplasm skos:exactMatch DOID:8002 supraglottis neoplasm semapv:UnspecifiedMatching MONDO:0004427 supraglottis neoplasm skos:exactMatch MEDGEN:87512 semapv:UnspecifiedMatching MONDO:0004427 supraglottis neoplasm skos:exactMatch NCIT:C6793 Supraglottis Neoplasm semapv:UnspecifiedMatching MONDO:0004427 supraglottis neoplasm skos:exactMatch SCTID:126697005 semapv:UnspecifiedMatching MONDO:0004427 supraglottis neoplasm skos:exactMatch UMLS:C0345726 semapv:UnspecifiedMatching MONDO:0004428 alveoli adenoma skos:exactMatch DOID:8003 alveoli adenoma semapv:UnspecifiedMatching MONDO:0004428 alveoli adenoma skos:exactMatch MEDGEN:137740 semapv:UnspecifiedMatching MONDO:0004428 alveoli adenoma skos:exactMatch NCIT:C4140 Alveolar Adenoma semapv:UnspecifiedMatching MONDO:0004428 alveoli adenoma skos:exactMatch UMLS:C0334303 semapv:UnspecifiedMatching MONDO:0004429 skin meningioma skos:exactMatch DOID:8006 skin meningioma semapv:UnspecifiedMatching MONDO:0004429 skin meningioma skos:exactMatch MEDGEN:698541 semapv:UnspecifiedMatching MONDO:0004429 skin meningioma skos:exactMatch UMLS:C1275260 semapv:UnspecifiedMatching MONDO:0004430 penis mixed squamous cell carcinoma skos:exactMatch DOID:8009 penis mixed squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0004430 penis mixed squamous cell carcinoma skos:exactMatch MEDGEN:268711 semapv:UnspecifiedMatching MONDO:0004430 penis mixed squamous cell carcinoma skos:exactMatch NCIT:C39959 Penile Mixed Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0004430 penis mixed squamous cell carcinoma skos:exactMatch UMLS:C1513369 semapv:UnspecifiedMatching MONDO:0004431 hemarthrosis skos:exactMatch DOID:801 hemarthrosis semapv:UnspecifiedMatching MONDO:0004431 hemarthrosis skos:exactMatch EFO:1001344 semapv:UnspecifiedMatching MONDO:0004431 hemarthrosis skos:exactMatch ICD10CM:M25.0 Hemarthrosis semapv:UnspecifiedMatching MONDO:0004431 hemarthrosis skos:exactMatch MEDGEN:5479 semapv:UnspecifiedMatching MONDO:0004431 hemarthrosis skos:exactMatch SCTID:81808003 semapv:UnspecifiedMatching MONDO:0004431 hemarthrosis skos:exactMatch UMLS:C0018924 semapv:UnspecifiedMatching MONDO:0004431 hemarthrosis skos:exactMatch mesh:D006395 semapv:UnspecifiedMatching MONDO:0004432 mature pericardial teratoma skos:exactMatch DOID:8012 benign pericardial teratoma semapv:UnspecifiedMatching MONDO:0004432 mature pericardial teratoma skos:exactMatch MEDGEN:233673 semapv:UnspecifiedMatching MONDO:0004432 mature pericardial teratoma skos:exactMatch NCIT:C6744 Pericardial Mature Teratoma semapv:UnspecifiedMatching MONDO:0004432 mature pericardial teratoma skos:exactMatch UMLS:C1334638 semapv:UnspecifiedMatching MONDO:0004433 papillary carcinoma of the penis skos:exactMatch DOID:8013 penis papillary carcinoma semapv:UnspecifiedMatching MONDO:0004433 papillary carcinoma of the penis skos:exactMatch MEDGEN:235455 semapv:UnspecifiedMatching MONDO:0004433 papillary carcinoma of the penis skos:exactMatch NCIT:C6983 Penile Papillary Carcinoma semapv:UnspecifiedMatching MONDO:0004433 papillary carcinoma of the penis skos:exactMatch UMLS:C1335322 semapv:UnspecifiedMatching MONDO:0004435 liver fibrosarcoma skos:exactMatch DOID:8022 liver fibrosarcoma semapv:UnspecifiedMatching MONDO:0004435 liver fibrosarcoma skos:exactMatch MEDGEN:232274 semapv:UnspecifiedMatching MONDO:0004435 liver fibrosarcoma skos:exactMatch NCIT:C5832 Liver Fibrosarcoma semapv:UnspecifiedMatching MONDO:0004435 liver fibrosarcoma skos:exactMatch UMLS:C1333966 semapv:UnspecifiedMatching MONDO:0004436 ovarian myxoid liposarcoma skos:exactMatch DOID:8023 myxoid liposarcoma of the ovary semapv:UnspecifiedMatching MONDO:0004436 ovarian myxoid liposarcoma skos:exactMatch MEDGEN:235420 semapv:UnspecifiedMatching MONDO:0004436 ovarian myxoid liposarcoma skos:exactMatch NCIT:C5235 Ovarian Myxoid Liposarcoma semapv:UnspecifiedMatching MONDO:0004436 ovarian myxoid liposarcoma skos:exactMatch UMLS:C1335170 semapv:UnspecifiedMatching MONDO:0004438 sporadic breast cancer skos:exactMatch DOID:8029 sporadic breast cancer semapv:UnspecifiedMatching MONDO:0004438 sporadic breast cancer skos:exactMatch MEDGEN:233463 semapv:UnspecifiedMatching MONDO:0004438 sporadic breast cancer skos:exactMatch NCIT:C7566 Sporadic Breast Carcinoma semapv:UnspecifiedMatching MONDO:0004438 sporadic breast cancer skos:exactMatch UMLS:C1336076 semapv:UnspecifiedMatching MONDO:0004439 periocular meningioma skos:exactMatch DOID:8030 periocular meningioma semapv:UnspecifiedMatching MONDO:0004440 pineal region meningioma skos:exactMatch DOID:8031 pineal region meningioma semapv:UnspecifiedMatching MONDO:0004440 pineal region meningioma skos:exactMatch MEDGEN:235478 semapv:UnspecifiedMatching MONDO:0004440 pineal region meningioma skos:exactMatch NCIT:C6756 Pineal Region Meningioma semapv:UnspecifiedMatching MONDO:0004440 pineal region meningioma skos:exactMatch UMLS:C1335418 semapv:UnspecifiedMatching MONDO:0004441 childhood ovarian embryonal carcinoma skos:exactMatch DOID:8036 childhood ovarian embryonal carcinoma semapv:UnspecifiedMatching MONDO:0004441 childhood ovarian embryonal carcinoma skos:exactMatch MEDGEN:232352 semapv:UnspecifiedMatching MONDO:0004441 childhood ovarian embryonal carcinoma skos:exactMatch NCIT:C6546 Childhood Ovarian Embryonal Carcinoma semapv:UnspecifiedMatching MONDO:0004441 childhood ovarian embryonal carcinoma skos:exactMatch UMLS:C1332989 semapv:UnspecifiedMatching MONDO:0004442 testis polyembryoma skos:exactMatch DOID:8042 testis polyembryoma semapv:UnspecifiedMatching MONDO:0004442 testis polyembryoma skos:exactMatch MEDGEN:271324 semapv:UnspecifiedMatching MONDO:0004442 testis polyembryoma skos:exactMatch NCIT:C40962 Testicular Polyembryoma semapv:UnspecifiedMatching MONDO:0004442 testis polyembryoma skos:exactMatch UMLS:C1514200 semapv:UnspecifiedMatching MONDO:0004443 chest wall parachordoma skos:exactMatch DOID:8043 chest wall parachordoma semapv:UnspecifiedMatching MONDO:0004443 chest wall parachordoma skos:exactMatch MEDGEN:232339 semapv:UnspecifiedMatching MONDO:0004443 chest wall parachordoma skos:exactMatch NCIT:C6720 Chest Wall Parachordoma semapv:UnspecifiedMatching MONDO:0004443 chest wall parachordoma skos:exactMatch UMLS:C1332934 semapv:UnspecifiedMatching MONDO:0004444 bladder tubulo-cystic clear cell adenocarcinoma skos:exactMatch DOID:8050 bladder tubulo-cystic clear cell adenocarcinoma semapv:UnspecifiedMatching MONDO:0004444 bladder tubulo-cystic clear cell adenocarcinoma skos:exactMatch MEDGEN:267060 semapv:UnspecifiedMatching MONDO:0004444 bladder tubulo-cystic clear cell adenocarcinoma skos:exactMatch NCIT:C39847 Bladder Tubulo-Cystic Clear Cell Adenocarcinoma semapv:UnspecifiedMatching MONDO:0004444 bladder tubulo-cystic clear cell adenocarcinoma skos:exactMatch UMLS:C1511203 semapv:UnspecifiedMatching MONDO:0004445 bladder papillary clear cell adenocarcinoma skos:exactMatch DOID:8051 bladder papillary clear cell adenocarcinoma semapv:UnspecifiedMatching MONDO:0004445 bladder papillary clear cell adenocarcinoma skos:exactMatch MEDGEN:307286 semapv:UnspecifiedMatching MONDO:0004445 bladder papillary clear cell adenocarcinoma skos:exactMatch NCIT:C39848 Bladder Papillary Clear Cell Adenocarcinoma semapv:UnspecifiedMatching MONDO:0004445 bladder papillary clear cell adenocarcinoma skos:exactMatch UMLS:C1511196 semapv:UnspecifiedMatching MONDO:0004446 olfactory groove meningioma skos:exactMatch DOID:8057 olfactory groove meningioma semapv:UnspecifiedMatching MONDO:0004446 olfactory groove meningioma skos:exactMatch MEDGEN:235402 semapv:UnspecifiedMatching MONDO:0004446 olfactory groove meningioma skos:exactMatch NCIT:C6771 Olfactory Groove Meningioma semapv:UnspecifiedMatching MONDO:0004446 olfactory groove meningioma skos:exactMatch UMLS:C1335107 semapv:UnspecifiedMatching MONDO:0004446 olfactory groove meningioma skos:exactMatch icd11.foundation:1489164089 Olfactory groove meningioma semapv:UnspecifiedMatching MONDO:0004447 pituitary stalk meningioma skos:exactMatch DOID:8058 pituitary stalk meningioma semapv:UnspecifiedMatching MONDO:0004447 pituitary stalk meningioma skos:exactMatch MEDGEN:233858 semapv:UnspecifiedMatching MONDO:0004447 pituitary stalk meningioma skos:exactMatch NCIT:C5311 Pituitary Stalk Meningioma semapv:UnspecifiedMatching MONDO:0004447 pituitary stalk meningioma skos:exactMatch UMLS:C1335422 semapv:UnspecifiedMatching MONDO:0004448 frontal sinus inverted papilloma skos:exactMatch DOID:8060 frontal sinus inverted papilloma semapv:UnspecifiedMatching MONDO:0004448 frontal sinus inverted papilloma skos:exactMatch MEDGEN:272638 semapv:UnspecifiedMatching MONDO:0004448 frontal sinus inverted papilloma skos:exactMatch NCIT:C6842 Frontal Sinus Inverted Papilloma semapv:UnspecifiedMatching MONDO:0004448 frontal sinus inverted papilloma skos:exactMatch UMLS:C1333644 semapv:UnspecifiedMatching MONDO:0004449 intraductal breast myoepitheliosis skos:exactMatch DOID:8068 intraductal breast myoepitheliosis semapv:UnspecifiedMatching MONDO:0004449 intraductal breast myoepitheliosis skos:exactMatch MEDGEN:268972 semapv:UnspecifiedMatching MONDO:0004449 intraductal breast myoepitheliosis skos:exactMatch NCIT:C40387 Breast Intraductal Myoepitheliosis semapv:UnspecifiedMatching MONDO:0004449 intraductal breast myoepitheliosis skos:exactMatch UMLS:C1512935 semapv:UnspecifiedMatching MONDO:0004450 carotid artery occlusion skos:exactMatch DOID:807 carotid artery occlusion semapv:UnspecifiedMatching MONDO:0004450 carotid artery occlusion skos:exactMatch MEDGEN:539079 semapv:UnspecifiedMatching MONDO:0004450 carotid artery occlusion skos:exactMatch SCTID:266254007 semapv:UnspecifiedMatching MONDO:0004450 carotid artery occlusion skos:exactMatch UMLS:C0265101 semapv:UnspecifiedMatching MONDO:0004451 sarcomatous intrahepatic cholangiocarcinoma skos:exactMatch DOID:8072 sarcomatous intrahepatic cholangiocarcinoma semapv:UnspecifiedMatching MONDO:0004451 sarcomatous intrahepatic cholangiocarcinoma skos:exactMatch MEDGEN:275403 semapv:UnspecifiedMatching MONDO:0004451 sarcomatous intrahepatic cholangiocarcinoma skos:exactMatch NCIT:C41620 Sarcomatoid Intrahepatic Cholangiocarcinoma semapv:UnspecifiedMatching MONDO:0004451 sarcomatous intrahepatic cholangiocarcinoma skos:exactMatch UMLS:C1519184 semapv:UnspecifiedMatching MONDO:0004452 childhood central nervous system germinoma skos:exactMatch DOID:8078 childhood central nervous system germinoma semapv:UnspecifiedMatching MONDO:0004452 childhood central nervous system germinoma skos:exactMatch MEDGEN:272460 semapv:UnspecifiedMatching MONDO:0004452 childhood central nervous system germinoma skos:exactMatch NCIT:C27406 Childhood Central Nervous System Germinoma semapv:UnspecifiedMatching MONDO:0004452 childhood central nervous system germinoma skos:exactMatch UMLS:C1332953 semapv:UnspecifiedMatching MONDO:0004453 testicular yolk sac tumor, myxomatous pattern skos:exactMatch DOID:8081 myxomatous pattern testicular yolk sac tumor semapv:UnspecifiedMatching MONDO:0004453 testicular yolk sac tumor, myxomatous pattern skos:exactMatch MEDGEN:271774 semapv:UnspecifiedMatching MONDO:0004453 testicular yolk sac tumor, myxomatous pattern skos:exactMatch NCIT:C39929 Testicular Yolk Sac Tumor, Myxomatous Pattern semapv:UnspecifiedMatching MONDO:0004453 testicular yolk sac tumor, myxomatous pattern skos:exactMatch UMLS:C1515309 semapv:UnspecifiedMatching MONDO:0004454 cellular congenital mesoblastic nephroma skos:exactMatch DOID:8082 cellular congenital mesoblastic nephroma semapv:UnspecifiedMatching MONDO:0004454 cellular congenital mesoblastic nephroma skos:exactMatch MEDGEN:729112 semapv:UnspecifiedMatching MONDO:0004454 cellular congenital mesoblastic nephroma skos:exactMatch NCIT:C39815 Cellular Congenital Mesoblastic Nephroma semapv:UnspecifiedMatching MONDO:0004454 cellular congenital mesoblastic nephroma skos:exactMatch UMLS:C1320471 semapv:UnspecifiedMatching MONDO:0004455 classic congenital mesoblastic nephroma skos:exactMatch DOID:8083 classic congenital mesoblastic nephroma semapv:UnspecifiedMatching MONDO:0004455 classic congenital mesoblastic nephroma skos:exactMatch MEDGEN:273923 semapv:UnspecifiedMatching MONDO:0004455 classic congenital mesoblastic nephroma skos:exactMatch NCIT:C39814 Classic Congenital Mesoblastic Nephroma semapv:UnspecifiedMatching MONDO:0004455 classic congenital mesoblastic nephroma skos:exactMatch UMLS:C1516475 semapv:UnspecifiedMatching MONDO:0004456 cocaine abuse skos:exactMatch DOID:809 cocaine abuse semapv:UnspecifiedMatching MONDO:0004456 cocaine abuse skos:exactMatch ICD10CM:F14.1 Cocaine abuse semapv:UnspecifiedMatching MONDO:0004456 cocaine abuse skos:exactMatch MEDGEN:3136 semapv:UnspecifiedMatching MONDO:0004456 cocaine abuse skos:exactMatch SCTID:78267003 semapv:UnspecifiedMatching MONDO:0004456 cocaine abuse skos:exactMatch UMLS:C0009171 semapv:UnspecifiedMatching MONDO:0004457 maxillary sinus Schneiderian papilloma skos:exactMatch DOID:8093 maxillary sinus Schneiderian papilloma semapv:UnspecifiedMatching MONDO:0004457 maxillary sinus Schneiderian papilloma skos:exactMatch MEDGEN:235306 semapv:UnspecifiedMatching MONDO:0004457 maxillary sinus Schneiderian papilloma skos:exactMatch NCIT:C6839 Maxillary Sinus Papilloma semapv:UnspecifiedMatching MONDO:0004457 maxillary sinus Schneiderian papilloma skos:exactMatch UMLS:C1334646 semapv:UnspecifiedMatching MONDO:0004458 bladder mixed adenocarcinoma skos:exactMatch DOID:8096 bladder mixed adenocarcinoma semapv:UnspecifiedMatching MONDO:0004458 bladder mixed adenocarcinoma skos:exactMatch MEDGEN:267372 semapv:UnspecifiedMatching MONDO:0004458 bladder mixed adenocarcinoma skos:exactMatch NCIT:C39839 Bladder Mixed Adenocarcinoma semapv:UnspecifiedMatching MONDO:0004458 bladder mixed adenocarcinoma skos:exactMatch UMLS:C1511192 semapv:UnspecifiedMatching MONDO:0004459 bladder hepatoid adenocarcinoma skos:exactMatch DOID:8097 bladder hepatoid adenocarcinoma semapv:UnspecifiedMatching MONDO:0004459 bladder hepatoid adenocarcinoma skos:exactMatch MEDGEN:267739 semapv:UnspecifiedMatching MONDO:0004459 bladder hepatoid adenocarcinoma skos:exactMatch NCIT:C39838 Bladder Hepatoid Adenocarcinoma semapv:UnspecifiedMatching MONDO:0004459 bladder hepatoid adenocarcinoma skos:exactMatch UMLS:C1511189 semapv:UnspecifiedMatching MONDO:0004460 thyroid gland fetal adenoma skos:exactMatch DOID:8102 fetal adenoma semapv:UnspecifiedMatching MONDO:0004460 thyroid gland fetal adenoma skos:exactMatch MEDGEN:137743 semapv:UnspecifiedMatching MONDO:0004460 thyroid gland fetal adenoma skos:exactMatch NCIT:C4160 Thyroid Gland Microfollicular Adenoma semapv:UnspecifiedMatching MONDO:0004460 thyroid gland fetal adenoma skos:exactMatch UMLS:C0334328 semapv:UnspecifiedMatching MONDO:0004461 vaginal tubulovillous adenoma skos:exactMatch DOID:8104 vaginal tubulovillous adenoma semapv:UnspecifiedMatching MONDO:0004461 vaginal tubulovillous adenoma skos:exactMatch MEDGEN:275576 semapv:UnspecifiedMatching MONDO:0004461 vaginal tubulovillous adenoma skos:exactMatch NCIT:C40258 Vaginal Tubulovillous Adenoma semapv:UnspecifiedMatching MONDO:0004461 vaginal tubulovillous adenoma skos:exactMatch UMLS:C1519933 semapv:UnspecifiedMatching MONDO:0004462 extrahepatic bile duct cystadenoma skos:exactMatch DOID:8105 extrahepatic bile duct cystadenoma semapv:UnspecifiedMatching MONDO:0004462 extrahepatic bile duct cystadenoma skos:exactMatch MEDGEN:272603 semapv:UnspecifiedMatching MONDO:0004462 extrahepatic bile duct cystadenoma skos:exactMatch NCIT:C5851 Extrahepatic Bile Duct Mucinous Cystic Neoplasm semapv:UnspecifiedMatching MONDO:0004462 extrahepatic bile duct cystadenoma skos:exactMatch UMLS:C1333504 semapv:UnspecifiedMatching MONDO:0004463 cellular phase chronic idiopathic myelofibrosis skos:exactMatch DOID:8106 cellular phase chronic idiopathic myelofibrosis semapv:UnspecifiedMatching MONDO:0004463 cellular phase chronic idiopathic myelofibrosis skos:exactMatch MEDGEN:275741 semapv:UnspecifiedMatching MONDO:0004463 cellular phase chronic idiopathic myelofibrosis skos:exactMatch NCIT:C41237 Prefibrotic Primary Myelofibrosis semapv:UnspecifiedMatching MONDO:0004463 cellular phase chronic idiopathic myelofibrosis skos:exactMatch UMLS:C1516553 semapv:UnspecifiedMatching MONDO:0004464 nephrogenic adenoma of the urethra skos:exactMatch DOID:8109 nephrogenic adenoma of the urethra semapv:UnspecifiedMatching MONDO:0004464 nephrogenic adenoma of the urethra skos:exactMatch MEDGEN:277847 semapv:UnspecifiedMatching MONDO:0004464 nephrogenic adenoma of the urethra skos:exactMatch NCIT:C7416 Urethral Nephrogenic Adenoma semapv:UnspecifiedMatching MONDO:0004464 nephrogenic adenoma of the urethra skos:exactMatch UMLS:C1336889 semapv:UnspecifiedMatching MONDO:0004465 periampullary adenocarcinoma skos:exactMatch DOID:8110 periampullary adenocarcinoma semapv:UnspecifiedMatching MONDO:0004465 periampullary adenocarcinoma skos:exactMatch MEDGEN:233847 semapv:UnspecifiedMatching MONDO:0004465 periampullary adenocarcinoma skos:exactMatch NCIT:C27322 Periampullary Adenocarcinoma semapv:UnspecifiedMatching MONDO:0004465 periampullary adenocarcinoma skos:exactMatch UMLS:C1335377 semapv:UnspecifiedMatching MONDO:0004466 neuronitis skos:exactMatch DOID:8117 neuronitis semapv:UnspecifiedMatching MONDO:0004466 neuronitis skos:exactMatch MEDGEN:45064 semapv:UnspecifiedMatching MONDO:0004466 neuronitis skos:exactMatch NCIT:C34847 Neuronitis semapv:UnspecifiedMatching MONDO:0004466 neuronitis skos:exactMatch UMLS:C0027881 semapv:UnspecifiedMatching MONDO:0004467 mature gastric teratoma skos:exactMatch DOID:8118 mature gastric teratoma semapv:UnspecifiedMatching MONDO:0004467 mature gastric teratoma skos:exactMatch MEDGEN:233165 semapv:UnspecifiedMatching MONDO:0004467 mature gastric teratoma skos:exactMatch NCIT:C5260 Mature Gastric Teratoma semapv:UnspecifiedMatching MONDO:0004467 mature gastric teratoma skos:exactMatch UMLS:C1334635 semapv:UnspecifiedMatching MONDO:0004468 anal canal Paget disease skos:exactMatch DOID:8119 anal canal Paget's disease semapv:UnspecifiedMatching MONDO:0004468 anal canal Paget disease skos:exactMatch MEDGEN:231062 semapv:UnspecifiedMatching MONDO:0004468 anal canal Paget disease skos:exactMatch NCIT:C7477 Anal Canal Paget Disease semapv:UnspecifiedMatching MONDO:0004468 anal canal Paget disease skos:exactMatch SCTID:236811000119101 semapv:UnspecifiedMatching MONDO:0004468 anal canal Paget disease skos:exactMatch UMLS:C1332261 semapv:UnspecifiedMatching MONDO:0004469 pseudovascular skin squamous cell carcinoma skos:exactMatch DOID:8122 pseudovascular skin squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0004469 pseudovascular skin squamous cell carcinoma skos:exactMatch MEDGEN:233447 semapv:UnspecifiedMatching MONDO:0004469 pseudovascular skin squamous cell carcinoma skos:exactMatch NCIT:C27542 Skin Pseudovascular Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0004469 pseudovascular skin squamous cell carcinoma skos:exactMatch UMLS:C1335974 semapv:UnspecifiedMatching MONDO:0004471 bacterial arthritis skos:exactMatch DOID:813 septic arthritis semapv:UnspecifiedMatching MONDO:0004471 bacterial arthritis skos:exactMatch EFO:1001351 semapv:UnspecifiedMatching MONDO:0004471 bacterial arthritis skos:exactMatch MEDGEN:308434 semapv:UnspecifiedMatching MONDO:0004471 bacterial arthritis skos:exactMatch NCIT:C26699 Bacterial Arthritis semapv:UnspecifiedMatching MONDO:0004471 bacterial arthritis skos:exactMatch SCTID:48245008 semapv:UnspecifiedMatching MONDO:0004471 bacterial arthritis skos:exactMatch UMLS:C1692886 semapv:UnspecifiedMatching MONDO:0004471 bacterial arthritis skos:exactMatch mesh:D001170 semapv:UnspecifiedMatching MONDO:0004472 breast columnar cell mucinous carcinoma skos:exactMatch DOID:8130 breast columnar cell mucinous carcinoma semapv:UnspecifiedMatching MONDO:0004472 breast columnar cell mucinous carcinoma skos:exactMatch MEDGEN:307307 semapv:UnspecifiedMatching MONDO:0004472 breast columnar cell mucinous carcinoma skos:exactMatch NCIT:C40355 Breast Columnar Cell Mucinous Carcinoma semapv:UnspecifiedMatching MONDO:0004472 breast columnar cell mucinous carcinoma skos:exactMatch UMLS:C1511305 semapv:UnspecifiedMatching MONDO:0004473 epiglottis cancer skos:exactMatch DOID:8133 epiglottis cancer semapv:UnspecifiedMatching MONDO:0004473 epiglottis cancer skos:exactMatch ICD10CM:C10.1 Malignant neoplasm of anterior surface of epiglottis semapv:UnspecifiedMatching MONDO:0004473 epiglottis cancer skos:exactMatch MEDGEN:249035 semapv:UnspecifiedMatching MONDO:0004473 epiglottis cancer skos:exactMatch NCIT:C35697 Epiglottic Carcinoma semapv:UnspecifiedMatching MONDO:0004473 epiglottis cancer skos:exactMatch NCIT:C4836 Malignant Epiglottis Neoplasm semapv:UnspecifiedMatching MONDO:0004473 epiglottis cancer skos:exactMatch SCTID:187681002 semapv:UnspecifiedMatching MONDO:0004473 epiglottis cancer skos:exactMatch UMLS:C1112382 semapv:UnspecifiedMatching MONDO:0004473 epiglottis cancer skos:exactMatch icd11.foundation:368785482 Primary malignant neoplasm of epiglottis semapv:UnspecifiedMatching MONDO:0004474 gallbladder lymphoma skos:exactMatch DOID:8135 gallbladder lymphoma semapv:UnspecifiedMatching MONDO:0004474 gallbladder lymphoma skos:exactMatch MEDGEN:232224 semapv:UnspecifiedMatching MONDO:0004474 gallbladder lymphoma skos:exactMatch NCIT:C5734 Gallbladder Lymphoma semapv:UnspecifiedMatching MONDO:0004474 gallbladder lymphoma skos:exactMatch UMLS:C1333748 semapv:UnspecifiedMatching MONDO:0004475 thymus clear cell carcinoma skos:exactMatch DOID:8137 thymus clear cell carcinoma semapv:UnspecifiedMatching MONDO:0004475 thymus clear cell carcinoma skos:exactMatch MEDGEN:272488 semapv:UnspecifiedMatching MONDO:0004475 thymus clear cell carcinoma skos:exactMatch NCIT:C6462 Thymus Clear Cell Carcinoma semapv:UnspecifiedMatching MONDO:0004475 thymus clear cell carcinoma skos:exactMatch UMLS:C1333069 semapv:UnspecifiedMatching MONDO:0004477 adrenal gland ganglioneuroblastoma skos:exactMatch DOID:8140 adrenal gland ganglioneuroblastoma semapv:UnspecifiedMatching MONDO:0004477 adrenal gland ganglioneuroblastoma skos:exactMatch MEDGEN:231355 semapv:UnspecifiedMatching MONDO:0004477 adrenal gland ganglioneuroblastoma skos:exactMatch NCIT:C7646 Adrenal Gland Ganglioneuroblastoma semapv:UnspecifiedMatching MONDO:0004477 adrenal gland ganglioneuroblastoma skos:exactMatch UMLS:C1332176 semapv:UnspecifiedMatching MONDO:0004478 pregerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma skos:exactMatch DOID:8144 pregerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma semapv:UnspecifiedMatching MONDO:0004478 pregerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma skos:exactMatch MEDGEN:234146 semapv:UnspecifiedMatching MONDO:0004478 pregerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma skos:exactMatch NCIT:C37204 Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma with Unmutated Immunoglobulin Heavy Chain Variable-Region Gene semapv:UnspecifiedMatching MONDO:0004478 pregerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma skos:exactMatch UMLS:C1333038 semapv:UnspecifiedMatching MONDO:0004479 malignant childhood germ cell neoplasm skos:exactMatch DOID:8149 malignant childhood germ cell neoplasm semapv:UnspecifiedMatching MONDO:0004479 malignant childhood germ cell neoplasm skos:exactMatch MEDGEN:233150 semapv:UnspecifiedMatching MONDO:0004479 malignant childhood germ cell neoplasm skos:exactMatch NCIT:C6541 Childhood Malignant Germ Cell Tumor semapv:UnspecifiedMatching MONDO:0004479 malignant childhood germ cell neoplasm skos:exactMatch UMLS:C1334574 semapv:UnspecifiedMatching MONDO:0004481 pancreatic intraductal papillary-mucinous neoplasm with an associated invasive carcinoma skos:exactMatch DOID:8150 pancreatic invasive intraductal papillary-mucinous carcinoma semapv:UnspecifiedMatching MONDO:0004481 pancreatic intraductal papillary-mucinous neoplasm with an associated invasive carcinoma skos:exactMatch MEDGEN:275329 semapv:UnspecifiedMatching MONDO:0004481 pancreatic intraductal papillary-mucinous neoplasm with an associated invasive carcinoma skos:exactMatch NCIT:C5726 Pancreatic Intraductal Papillary-Mucinous Neoplasm with an Associated Invasive Carcinoma semapv:UnspecifiedMatching MONDO:0004481 pancreatic intraductal papillary-mucinous neoplasm with an associated invasive carcinoma skos:exactMatch UMLS:C1518871 semapv:UnspecifiedMatching MONDO:0004482 fibroosseous pseudotumor of the digits skos:exactMatch DOID:8153 fibroosseous pseudotumor of digits semapv:UnspecifiedMatching MONDO:0004482 fibroosseous pseudotumor of the digits skos:exactMatch MEDGEN:232507 semapv:UnspecifiedMatching MONDO:0004482 fibroosseous pseudotumor of the digits skos:exactMatch NCIT:C6573 Fibroosseous Pseudotumor of Digits semapv:UnspecifiedMatching MONDO:0004482 fibroosseous pseudotumor of the digits skos:exactMatch SCTID:403991009 semapv:UnspecifiedMatching MONDO:0004482 fibroosseous pseudotumor of the digits skos:exactMatch UMLS:C1333612 semapv:UnspecifiedMatching MONDO:0004483 thyroid gland oncocytic adenoma skos:exactMatch DOID:8162 thyroid Hurthle cell adenoma semapv:UnspecifiedMatching MONDO:0004483 thyroid gland oncocytic adenoma skos:exactMatch MEDGEN:237009 semapv:UnspecifiedMatching MONDO:0004483 thyroid gland oncocytic adenoma skos:exactMatch NCIT:C6042 Thyroid Gland Oncocytic Adenoma semapv:UnspecifiedMatching MONDO:0004483 thyroid gland oncocytic adenoma skos:exactMatch UMLS:C1336750 semapv:UnspecifiedMatching MONDO:0004484 gallbladder melanoma skos:exactMatch DOID:8167 gallbladder melanoma semapv:UnspecifiedMatching MONDO:0004484 gallbladder melanoma skos:exactMatch MEDGEN:232225 semapv:UnspecifiedMatching MONDO:0004484 gallbladder melanoma skos:exactMatch NCIT:C5735 Gallbladder Melanoma semapv:UnspecifiedMatching MONDO:0004484 gallbladder melanoma skos:exactMatch UMLS:C1333749 semapv:UnspecifiedMatching MONDO:0004485 interstitial myocarditis skos:exactMatch DOID:817 interstitial myocarditis semapv:UnspecifiedMatching MONDO:0004485 interstitial myocarditis skos:exactMatch MEDGEN:44554 semapv:UnspecifiedMatching MONDO:0004485 interstitial myocarditis skos:exactMatch NCIT:C35786 Interstitial Myocarditis semapv:UnspecifiedMatching MONDO:0004485 interstitial myocarditis skos:exactMatch SCTID:37925008 semapv:UnspecifiedMatching MONDO:0004485 interstitial myocarditis skos:exactMatch UMLS:C0027060 semapv:UnspecifiedMatching MONDO:0004486 endocervical type cervical adenomyoma skos:exactMatch DOID:8177 endocervical type cervical adenomyoma semapv:UnspecifiedMatching MONDO:0004486 endocervical type cervical adenomyoma skos:exactMatch MEDGEN:275706 semapv:UnspecifiedMatching MONDO:0004486 endocervical type cervical adenomyoma skos:exactMatch NCIT:C40232 Cervical Adenomyoma, Endocervical-Type semapv:UnspecifiedMatching MONDO:0004486 endocervical type cervical adenomyoma skos:exactMatch UMLS:C1516405 semapv:UnspecifiedMatching MONDO:0004487 endometrial type cervical adenomyoma skos:exactMatch DOID:8178 endometrial type cervical adenomyoma semapv:UnspecifiedMatching MONDO:0004487 endometrial type cervical adenomyoma skos:exactMatch NCIT:C40233 Cervical Adenomyoma, Mesonephric-Type semapv:UnspecifiedMatching MONDO:0004488 cervical atypical polypoid adenomyoma skos:exactMatch DOID:8179 cervical atypical polypoid adenomyoma semapv:UnspecifiedMatching MONDO:0004488 cervical atypical polypoid adenomyoma skos:exactMatch MEDGEN:273123 semapv:UnspecifiedMatching MONDO:0004488 cervical atypical polypoid adenomyoma skos:exactMatch NCIT:C40234 Cervical Atypical Polypoid Adenomyoma semapv:UnspecifiedMatching MONDO:0004488 cervical atypical polypoid adenomyoma skos:exactMatch UMLS:C1516409 semapv:UnspecifiedMatching MONDO:0004489 fallopian tube gestational choriocarcinoma skos:exactMatch DOID:8186 fallopian tube gestational choriocarcinoma semapv:UnspecifiedMatching MONDO:0004489 fallopian tube gestational choriocarcinoma skos:exactMatch MEDGEN:232186 semapv:UnspecifiedMatching MONDO:0004489 fallopian tube gestational choriocarcinoma skos:exactMatch NCIT:C6278 Fallopian Tube Gestational Choriocarcinoma semapv:UnspecifiedMatching MONDO:0004489 fallopian tube gestational choriocarcinoma skos:exactMatch UMLS:C1333593 semapv:UnspecifiedMatching MONDO:0004491 uterine corpus choriocarcinoma skos:exactMatch DOID:8187 gestational uterine corpus choriocarcinoma semapv:UnspecifiedMatching MONDO:0004491 uterine corpus choriocarcinoma skos:exactMatch DOID:8188 uterine corpus choriocarcinoma semapv:UnspecifiedMatching MONDO:0004491 uterine corpus choriocarcinoma skos:exactMatch MEDGEN:234466 semapv:UnspecifiedMatching MONDO:0004491 uterine corpus choriocarcinoma skos:exactMatch NCIT:C27246 Uterine Corpus Choriocarcinoma semapv:UnspecifiedMatching MONDO:0004491 uterine corpus choriocarcinoma skos:exactMatch UMLS:C1336904 semapv:UnspecifiedMatching MONDO:0004492 mediastinitis skos:exactMatch DOID:819 mediastinitis semapv:UnspecifiedMatching MONDO:0004492 mediastinitis skos:exactMatch ICD10CM:J98.51 Mediastinitis semapv:UnspecifiedMatching MONDO:0004492 mediastinitis skos:exactMatch MEDGEN:9921 semapv:UnspecifiedMatching MONDO:0004492 mediastinitis skos:exactMatch NCIT:C26827 Mediastinitis semapv:UnspecifiedMatching MONDO:0004492 mediastinitis skos:exactMatch SCTID:47597000 semapv:UnspecifiedMatching MONDO:0004492 mediastinitis skos:exactMatch UMLS:C0025064 semapv:UnspecifiedMatching MONDO:0004492 mediastinitis skos:exactMatch icd11.foundation:1612791605 Mediastinitis semapv:UnspecifiedMatching MONDO:0004492 mediastinitis skos:exactMatch mesh:D008480 semapv:UnspecifiedMatching MONDO:0004493 testicular yolk sac tumor, papillary pattern skos:exactMatch DOID:8193 papillary pattern testicular yolk sac tumor semapv:UnspecifiedMatching MONDO:0004493 testicular yolk sac tumor, papillary pattern skos:exactMatch MEDGEN:308262 semapv:UnspecifiedMatching MONDO:0004493 testicular yolk sac tumor, papillary pattern skos:exactMatch NCIT:C39928 Testicular Yolk Sac Tumor, Papillary Pattern semapv:UnspecifiedMatching MONDO:0004493 testicular yolk sac tumor, papillary pattern skos:exactMatch UMLS:C1515310 semapv:UnspecifiedMatching MONDO:0004494 testicular yolk sac tumor, hepatoid pattern skos:exactMatch DOID:8195 hepatoid pattern testicular yolk sac tumor semapv:UnspecifiedMatching MONDO:0004494 testicular yolk sac tumor, hepatoid pattern skos:exactMatch MEDGEN:272846 semapv:UnspecifiedMatching MONDO:0004494 testicular yolk sac tumor, hepatoid pattern skos:exactMatch NCIT:C39931 Testicular Yolk Sac Tumor, Hepatoid Pattern semapv:UnspecifiedMatching MONDO:0004494 testicular yolk sac tumor, hepatoid pattern skos:exactMatch UMLS:C1515306 semapv:UnspecifiedMatching MONDO:0004495 myotonic cataract skos:exactMatch DOID:82 myotonic cataract semapv:UnspecifiedMatching MONDO:0004495 myotonic cataract skos:exactMatch MEDGEN:44565 semapv:UnspecifiedMatching MONDO:0004495 myotonic cataract skos:exactMatch NCIT:C34833 Myotonic Cataract semapv:UnspecifiedMatching MONDO:0004495 myotonic cataract skos:exactMatch SCTID:64741003 semapv:UnspecifiedMatching MONDO:0004495 myotonic cataract skos:exactMatch UMLS:C0027128 semapv:UnspecifiedMatching MONDO:0004495 myotonic cataract skos:exactMatch icd11.foundation:1723425593 Myotonic cataract semapv:UnspecifiedMatching MONDO:0004496 myocarditis skos:exactMatch DOID:820 myocarditis semapv:UnspecifiedMatching MONDO:0004496 myocarditis skos:exactMatch EFO:0009609 semapv:UnspecifiedMatching MONDO:0004496 myocarditis skos:exactMatch ICD10CM:I40 Acute myocarditis semapv:UnspecifiedMatching MONDO:0004496 myocarditis skos:exactMatch MEDGEN:44553 semapv:UnspecifiedMatching MONDO:0004496 myocarditis skos:exactMatch NCIT:C34831 Myocarditis semapv:UnspecifiedMatching MONDO:0004496 myocarditis skos:exactMatch SCTID:50920009 semapv:UnspecifiedMatching MONDO:0004496 myocarditis skos:exactMatch UMLS:C0027059 semapv:UnspecifiedMatching MONDO:0004496 myocarditis skos:exactMatch icd11.foundation:1018829714 Myocarditis semapv:UnspecifiedMatching MONDO:0004496 myocarditis skos:exactMatch mesh:D009205 semapv:UnspecifiedMatching MONDO:0004497 tertiary syphilis skos:exactMatch DOID:8200 tertiary syphilis semapv:UnspecifiedMatching MONDO:0004497 tertiary syphilis skos:exactMatch ICD10CM:A52 Late syphilis semapv:UnspecifiedMatching MONDO:0004497 tertiary syphilis skos:exactMatch MEDGEN:56297 semapv:UnspecifiedMatching MONDO:0004497 tertiary syphilis skos:exactMatch NCIT:C128414 Tertiary Syphilis semapv:UnspecifiedMatching MONDO:0004497 tertiary syphilis skos:exactMatch SCTID:72083004 semapv:UnspecifiedMatching MONDO:0004497 tertiary syphilis skos:exactMatch UMLS:C0153188 semapv:UnspecifiedMatching MONDO:0004497 tertiary syphilis skos:exactMatch mesh:C536774 semapv:UnspecifiedMatching MONDO:0004498 sacral spinal canal and spinal cord meningioma skos:exactMatch DOID:8203 sacral spinal canal and spinal cord meningioma semapv:UnspecifiedMatching MONDO:0004498 sacral spinal canal and spinal cord meningioma skos:exactMatch MEDGEN:277626 semapv:UnspecifiedMatching MONDO:0004498 sacral spinal canal and spinal cord meningioma skos:exactMatch NCIT:C5299 Sacral Spinal Cord Meningioma semapv:UnspecifiedMatching MONDO:0004498 sacral spinal canal and spinal cord meningioma skos:exactMatch UMLS:C1335893 semapv:UnspecifiedMatching MONDO:0004499 lung hilum carcinoma skos:exactMatch DOID:8207 hilar lung carcinoma semapv:UnspecifiedMatching MONDO:0004499 lung hilum carcinoma skos:exactMatch MEDGEN:235266 semapv:UnspecifiedMatching MONDO:0004499 lung hilum carcinoma skos:exactMatch NCIT:C7454 Lung Hilum Carcinoma semapv:UnspecifiedMatching MONDO:0004499 lung hilum carcinoma skos:exactMatch UMLS:C1334445 semapv:UnspecifiedMatching MONDO:0004500 lung superior sulcus carcinoma skos:exactMatch DOID:8208 lung superior sulcus carcinoma semapv:UnspecifiedMatching MONDO:0004500 lung superior sulcus carcinoma skos:exactMatch MEDGEN:234910 semapv:UnspecifiedMatching MONDO:0004500 lung superior sulcus carcinoma skos:exactMatch NCIT:C7779 Superior Sulcus Lung Carcinoma semapv:UnspecifiedMatching MONDO:0004500 lung superior sulcus carcinoma skos:exactMatch UMLS:C1336529 semapv:UnspecifiedMatching MONDO:0004501 fallopian tube cystadenofibroma skos:exactMatch DOID:8211 fallopian tube cystadenofibroma semapv:UnspecifiedMatching MONDO:0004501 fallopian tube cystadenofibroma skos:exactMatch MEDGEN:273292 semapv:UnspecifiedMatching MONDO:0004501 fallopian tube cystadenofibroma skos:exactMatch NCIT:C40114 Fallopian Tube Serous Cystadenofibroma semapv:UnspecifiedMatching MONDO:0004501 fallopian tube cystadenofibroma skos:exactMatch UMLS:C1517111 semapv:UnspecifiedMatching MONDO:0004502 parapharyngeal meningioma skos:exactMatch DOID:8216 parapharyngeal meningioma semapv:UnspecifiedMatching MONDO:0004502 parapharyngeal meningioma skos:exactMatch NCIT:C5303 Primary Parapharyngeal Meningioma semapv:UnspecifiedMatching MONDO:0004503 upper clivus meningioma skos:exactMatch DOID:8221 upper clivus meningioma semapv:UnspecifiedMatching MONDO:0004503 upper clivus meningioma skos:exactMatch MEDGEN:234454 semapv:UnspecifiedMatching MONDO:0004503 upper clivus meningioma skos:exactMatch NCIT:C5290 Upper Clivus Meningioma semapv:UnspecifiedMatching MONDO:0004503 upper clivus meningioma skos:exactMatch UMLS:C1336871 semapv:UnspecifiedMatching MONDO:0004504 penile urethral cancer skos:exactMatch DOID:8223 penile urethral cancer semapv:UnspecifiedMatching MONDO:0004504 penile urethral cancer skos:exactMatch MEDGEN:275350 semapv:UnspecifiedMatching MONDO:0004504 penile urethral cancer skos:exactMatch NCIT:C39868 Penile Urethral Malignant Neoplasm semapv:UnspecifiedMatching MONDO:0004504 penile urethral cancer skos:exactMatch UMLS:C1518950 semapv:UnspecifiedMatching MONDO:0004505 central breast papilloma skos:exactMatch DOID:8224 central breast papilloma semapv:UnspecifiedMatching MONDO:0004505 central breast papilloma skos:exactMatch MEDGEN:272446 semapv:UnspecifiedMatching MONDO:0004505 central breast papilloma skos:exactMatch NCIT:C36087 Breast Central Papilloma semapv:UnspecifiedMatching MONDO:0004505 central breast papilloma skos:exactMatch UMLS:C1332896 semapv:UnspecifiedMatching MONDO:0004506 microscopic breast papilloma skos:exactMatch DOID:8225 microscopic breast papilloma semapv:UnspecifiedMatching MONDO:0004506 microscopic breast papilloma skos:exactMatch MEDGEN:233851 semapv:UnspecifiedMatching MONDO:0004506 microscopic breast papilloma skos:exactMatch NCIT:C36088 Breast Peripheral Papilloma semapv:UnspecifiedMatching MONDO:0004506 microscopic breast papilloma skos:exactMatch UMLS:C1335390 semapv:UnspecifiedMatching MONDO:0004507 atypical breast papilloma skos:exactMatch DOID:8227 atypical breast papilloma semapv:UnspecifiedMatching MONDO:0004507 atypical breast papilloma skos:exactMatch MEDGEN:233997 semapv:UnspecifiedMatching MONDO:0004507 atypical breast papilloma skos:exactMatch NCIT:C36089 Breast Atypical Papilloma semapv:UnspecifiedMatching MONDO:0004507 atypical breast papilloma skos:exactMatch UMLS:C1332346 semapv:UnspecifiedMatching MONDO:0004508 periapical periodontitis skos:exactMatch DOID:823 periapical periodontitis semapv:UnspecifiedMatching MONDO:0004508 periapical periodontitis skos:exactMatch EFO:1001391 semapv:UnspecifiedMatching MONDO:0004508 periapical periodontitis skos:exactMatch MEDGEN:45396 semapv:UnspecifiedMatching MONDO:0004508 periapical periodontitis skos:exactMatch SCTID:39273001 semapv:UnspecifiedMatching MONDO:0004508 periapical periodontitis skos:exactMatch UMLS:C0031030 semapv:UnspecifiedMatching MONDO:0004508 periapical periodontitis skos:exactMatch icd11.foundation:1395124674 Periapical periodontitis semapv:UnspecifiedMatching MONDO:0004508 periapical periodontitis skos:exactMatch mesh:D010485 semapv:UnspecifiedMatching MONDO:0004509 intrahepatic biliary papillomatosis skos:exactMatch DOID:8230 intrahepatic biliary papillomatosis semapv:UnspecifiedMatching MONDO:0004509 intrahepatic biliary papillomatosis skos:exactMatch MEDGEN:233574 semapv:UnspecifiedMatching MONDO:0004509 intrahepatic biliary papillomatosis skos:exactMatch NCIT:C7125 Intrahepatic Bile Duct Intraductal Papillary Neoplasm semapv:UnspecifiedMatching MONDO:0004509 intrahepatic biliary papillomatosis skos:exactMatch UMLS:C1334258 semapv:UnspecifiedMatching MONDO:0004510 inflammatory liposarcoma skos:exactMatch DOID:8233 inflammatory liposarcoma semapv:UnspecifiedMatching MONDO:0004510 inflammatory liposarcoma skos:exactMatch MEDGEN:234588 semapv:UnspecifiedMatching MONDO:0004510 inflammatory liposarcoma skos:exactMatch NCIT:C6508 Inflammatory Atypical Lipomatous Tumor/Well Differentiated Liposarcoma semapv:UnspecifiedMatching MONDO:0004510 inflammatory liposarcoma skos:exactMatch UMLS:C1370890 semapv:UnspecifiedMatching MONDO:0004511 lower clivus meningioma skos:exactMatch DOID:8239 lower clivus meningioma semapv:UnspecifiedMatching MONDO:0004511 lower clivus meningioma skos:exactMatch MEDGEN:235264 semapv:UnspecifiedMatching MONDO:0004511 lower clivus meningioma skos:exactMatch NCIT:C5288 Lower Clivus Meningioma semapv:UnspecifiedMatching MONDO:0004511 lower clivus meningioma skos:exactMatch UMLS:C1334434 semapv:UnspecifiedMatching MONDO:0004512 meningeal melanomatosis skos:exactMatch DOID:8243 meningeal melanomatosis semapv:UnspecifiedMatching MONDO:0004512 meningeal melanomatosis skos:exactMatch MEDGEN:226843 semapv:UnspecifiedMatching MONDO:0004512 meningeal melanomatosis skos:exactMatch NCIT:C6891 Meningeal Melanomatosis semapv:UnspecifiedMatching MONDO:0004512 meningeal melanomatosis skos:exactMatch UMLS:C1266114 semapv:UnspecifiedMatching MONDO:0004513 adult pleomorphic rhabdomyosarcoma skos:exactMatch DOID:8251 adult pleomorphic rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0004513 adult pleomorphic rhabdomyosarcoma skos:exactMatch MEDGEN:233966 semapv:UnspecifiedMatching MONDO:0004513 adult pleomorphic rhabdomyosarcoma skos:exactMatch NCIT:C27369 Adult Pleomorphic Rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0004513 adult pleomorphic rhabdomyosarcoma skos:exactMatch UMLS:C1332211 semapv:UnspecifiedMatching MONDO:0004514 chronic rhinitis skos:exactMatch DOID:8252 chronic rhinitis semapv:UnspecifiedMatching MONDO:0004514 chronic rhinitis skos:exactMatch ICD10CM:J31.0 Chronic rhinitis semapv:UnspecifiedMatching MONDO:0004514 chronic rhinitis skos:exactMatch MEDGEN:3086 semapv:UnspecifiedMatching MONDO:0004514 chronic rhinitis skos:exactMatch NCIT:C34479 Chronic Rhinitis semapv:UnspecifiedMatching MONDO:0004514 chronic rhinitis skos:exactMatch SCTID:86094006 semapv:UnspecifiedMatching MONDO:0004514 chronic rhinitis skos:exactMatch UMLS:C0008711 semapv:UnspecifiedMatching MONDO:0004514 chronic rhinitis skos:exactMatch icd11.foundation:1346915097 Chronic rhinitis semapv:UnspecifiedMatching MONDO:0004516 bulbomembranous urethral cancer skos:exactMatch DOID:8259 bulbomembranous urethral cancer semapv:UnspecifiedMatching MONDO:0004516 bulbomembranous urethral cancer skos:exactMatch MEDGEN:267917 semapv:UnspecifiedMatching MONDO:0004516 bulbomembranous urethral cancer skos:exactMatch NCIT:C39869 Bulbomembranous Urethral Malignant Neoplasm semapv:UnspecifiedMatching MONDO:0004516 bulbomembranous urethral cancer skos:exactMatch UMLS:C1511339 semapv:UnspecifiedMatching MONDO:0004517 ureter tuberculosis skos:exactMatch DOID:827 ureter tuberculosis semapv:UnspecifiedMatching MONDO:0004517 ureter tuberculosis skos:exactMatch MEDGEN:509076 semapv:UnspecifiedMatching MONDO:0004517 ureter tuberculosis skos:exactMatch SCTID:81359005 semapv:UnspecifiedMatching MONDO:0004517 ureter tuberculosis skos:exactMatch UMLS:C0152800 semapv:UnspecifiedMatching MONDO:0004518 anterior urethra cancer skos:exactMatch DOID:8272 anterior urethra cancer semapv:UnspecifiedMatching MONDO:0004518 anterior urethra cancer skos:exactMatch MEDGEN:76043 semapv:UnspecifiedMatching MONDO:0004518 anterior urethra cancer skos:exactMatch NCIT:C7641 Anterior Urethral Malignant Neoplasm semapv:UnspecifiedMatching MONDO:0004518 anterior urethra cancer skos:exactMatch UMLS:C0279930 semapv:UnspecifiedMatching MONDO:0004519 synovial angioma skos:exactMatch DOID:8274 synovial angioma semapv:UnspecifiedMatching MONDO:0004519 synovial angioma skos:exactMatch MEDGEN:234375 semapv:UnspecifiedMatching MONDO:0004519 synovial angioma skos:exactMatch NCIT:C6525 Synovial Hemangioma semapv:UnspecifiedMatching MONDO:0004519 synovial angioma skos:exactMatch UMLS:C1336546 semapv:UnspecifiedMatching MONDO:0004520 intratubular embryonal carcinoma skos:exactMatch DOID:8275 intratubular embryonal carcinoma semapv:UnspecifiedMatching MONDO:0004520 intratubular embryonal carcinoma skos:exactMatch MEDGEN:1832671 semapv:UnspecifiedMatching MONDO:0004520 intratubular embryonal carcinoma skos:exactMatch NCIT:C192096 Intratubular Embryonal Carcinoma semapv:UnspecifiedMatching MONDO:0004520 intratubular embryonal carcinoma skos:exactMatch NCIT:C7325 Intratubular Non-Seminoma semapv:UnspecifiedMatching MONDO:0004520 intratubular embryonal carcinoma skos:exactMatch UMLS:C5784893 semapv:UnspecifiedMatching MONDO:0004521 adult epithelioid sarcoma skos:exactMatch DOID:8282 adult epithelioid sarcoma semapv:UnspecifiedMatching MONDO:0004521 adult epithelioid sarcoma skos:exactMatch MEDGEN:124631 semapv:UnspecifiedMatching MONDO:0004521 adult epithelioid sarcoma skos:exactMatch NCIT:C7944 Adult Epithelioid Sarcoma semapv:UnspecifiedMatching MONDO:0004521 adult epithelioid sarcoma skos:exactMatch UMLS:C0279545 semapv:UnspecifiedMatching MONDO:0004522 infectious peritonitis skos:exactMatch DOID:8283 peritonitis semapv:UnspecifiedMatching MONDO:0004522 infectious peritonitis skos:exactMatch EFO:0008588 semapv:UnspecifiedMatching MONDO:0004522 infectious peritonitis skos:exactMatch ICD10CM:K65 Peritonitis semapv:UnspecifiedMatching MONDO:0004522 infectious peritonitis skos:exactMatch MEDGEN:688825 semapv:UnspecifiedMatching MONDO:0004522 infectious peritonitis skos:exactMatch NCIT:C26849 Peritonitis semapv:UnspecifiedMatching MONDO:0004522 infectious peritonitis skos:exactMatch SCTID:86422009 semapv:UnspecifiedMatching MONDO:0004522 infectious peritonitis skos:exactMatch UMLS:C1264610 semapv:UnspecifiedMatching MONDO:0004523 clear cell squamous cell skin carcinoma skos:exactMatch DOID:8288 clear cell squamous cell skin carcinoma semapv:UnspecifiedMatching MONDO:0004523 clear cell squamous cell skin carcinoma skos:exactMatch MEDGEN:91064 semapv:UnspecifiedMatching MONDO:0004523 clear cell squamous cell skin carcinoma skos:exactMatch NCIT:C4459 Skin Clear Cell Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0004523 clear cell squamous cell skin carcinoma skos:exactMatch SCTID:254652000 semapv:UnspecifiedMatching MONDO:0004523 clear cell squamous cell skin carcinoma skos:exactMatch UMLS:C0345978 semapv:UnspecifiedMatching MONDO:0004524 thyroid gland atypical follicular adenoma skos:exactMatch DOID:8292 atypical follicular adenoma semapv:UnspecifiedMatching MONDO:0004524 thyroid gland atypical follicular adenoma skos:exactMatch MEDGEN:224756 semapv:UnspecifiedMatching MONDO:0004524 thyroid gland atypical follicular adenoma skos:exactMatch NCIT:C27729 Thyroid Gland Well-Differentiated Tumor of Uncertain Malignant Potential semapv:UnspecifiedMatching MONDO:0004524 thyroid gland atypical follicular adenoma skos:exactMatch UMLS:C1266046 semapv:UnspecifiedMatching MONDO:0004525 scabies skos:exactMatch DOID:8295 scabies semapv:UnspecifiedMatching MONDO:0004525 scabies skos:exactMatch ICD10CM:B86 Scabies semapv:UnspecifiedMatching MONDO:0004525 scabies skos:exactMatch ICD10WHO:B86 Scabies semapv:UnspecifiedMatching MONDO:0004525 scabies skos:exactMatch MEDGEN:48566 semapv:UnspecifiedMatching MONDO:0004525 scabies skos:exactMatch NCIT:C34998 Scabies semapv:UnspecifiedMatching MONDO:0004525 scabies skos:exactMatch SCTID:128869009 semapv:UnspecifiedMatching MONDO:0004525 scabies skos:exactMatch UMLS:C0036262 semapv:UnspecifiedMatching MONDO:0004525 scabies skos:exactMatch icd11.foundation:876005123 Scabies semapv:UnspecifiedMatching MONDO:0004525 scabies skos:exactMatch mesh:D012532 semapv:UnspecifiedMatching MONDO:0004526 mixed endometrial stromal and smooth muscle tumor skos:exactMatch DOID:8302 mixed endometrial stromal and smooth muscle tumor semapv:UnspecifiedMatching MONDO:0004526 mixed endometrial stromal and smooth muscle tumor skos:exactMatch MEDGEN:269077 semapv:UnspecifiedMatching MONDO:0004526 mixed endometrial stromal and smooth muscle tumor skos:exactMatch NCIT:C40178 Mixed Endometrial Stromal and Smooth Muscle Neoplasm semapv:UnspecifiedMatching MONDO:0004526 mixed endometrial stromal and smooth muscle tumor skos:exactMatch NCIT:C40179 Uterine Corpus Soft Tissue Neoplasm semapv:UnspecifiedMatching MONDO:0004526 mixed endometrial stromal and smooth muscle tumor skos:exactMatch UMLS:C1513364 semapv:UnspecifiedMatching MONDO:0004528 lymph node palisaded myofibroblastoma skos:exactMatch DOID:8304 lymph node palisaded myofibroblastoma semapv:UnspecifiedMatching MONDO:0004528 lymph node palisaded myofibroblastoma skos:exactMatch MEDGEN:757257 semapv:UnspecifiedMatching MONDO:0004528 lymph node palisaded myofibroblastoma skos:exactMatch NCIT:C6584 Intranodal Palisaded Myofibroblastoma semapv:UnspecifiedMatching MONDO:0004528 lymph node palisaded myofibroblastoma skos:exactMatch UMLS:C3164851 semapv:UnspecifiedMatching MONDO:0004529 non-ossifying fibromyxoid tumor skos:exactMatch DOID:8305 nonossifying fibromyxoid tumor semapv:UnspecifiedMatching MONDO:0004529 non-ossifying fibromyxoid tumor skos:exactMatch MEDGEN:235395 semapv:UnspecifiedMatching MONDO:0004529 non-ossifying fibromyxoid tumor skos:exactMatch NCIT:C6583 Nonossifying Fibromyxoid Tumor semapv:UnspecifiedMatching MONDO:0004529 non-ossifying fibromyxoid tumor skos:exactMatch UMLS:C1335063 semapv:UnspecifiedMatching MONDO:0004530 early invasive cervical adenocarcinoma skos:exactMatch DOID:8307 early invasive cervical adenocarcinoma semapv:UnspecifiedMatching MONDO:0004530 early invasive cervical adenocarcinoma skos:exactMatch MEDGEN:232144 semapv:UnspecifiedMatching MONDO:0004530 early invasive cervical adenocarcinoma skos:exactMatch NCIT:C36096 Early Invasive Cervical Adenocarcinoma semapv:UnspecifiedMatching MONDO:0004530 early invasive cervical adenocarcinoma skos:exactMatch UMLS:C1333369 semapv:UnspecifiedMatching MONDO:0004531 sclerosing adenosis of breast skos:exactMatch DOID:8310 sclerosing adenosis of breast semapv:UnspecifiedMatching MONDO:0004531 sclerosing adenosis of breast skos:exactMatch MEDGEN:235582 semapv:UnspecifiedMatching MONDO:0004531 sclerosing adenosis of breast skos:exactMatch NCIT:C5205 Breast Sclerosing Adenosis semapv:UnspecifiedMatching MONDO:0004531 sclerosing adenosis of breast skos:exactMatch SCTID:105261000119101 semapv:UnspecifiedMatching MONDO:0004531 sclerosing adenosis of breast skos:exactMatch UMLS:C1335931 semapv:UnspecifiedMatching MONDO:0004532 auditory system cancer skos:exactMatch DOID:833 auditory system cancer semapv:UnspecifiedMatching MONDO:0004533 perineural angioma skos:exactMatch DOID:8331 perineural angioma semapv:UnspecifiedMatching MONDO:0004533 perineural angioma skos:exactMatch MEDGEN:235470 semapv:UnspecifiedMatching MONDO:0004533 perineural angioma skos:exactMatch NCIT:C6526 Perineural Hemangioma semapv:UnspecifiedMatching MONDO:0004533 perineural angioma skos:exactMatch UMLS:C1335382 semapv:UnspecifiedMatching MONDO:0004534 microglandular adenosis of breast skos:exactMatch DOID:8335 microglandular adenosis of breast semapv:UnspecifiedMatching MONDO:0004534 microglandular adenosis of breast skos:exactMatch MEDGEN:233705 semapv:UnspecifiedMatching MONDO:0004534 microglandular adenosis of breast skos:exactMatch NCIT:C5199 Breast Microglandular Adenosis semapv:UnspecifiedMatching MONDO:0004534 microglandular adenosis of breast skos:exactMatch UMLS:C1334753 semapv:UnspecifiedMatching MONDO:0004535 childhood choriocarcinoma of the ovary skos:exactMatch DOID:8336 childhood choriocarcinoma of the ovary semapv:UnspecifiedMatching MONDO:0004535 childhood choriocarcinoma of the ovary skos:exactMatch MEDGEN:234135 semapv:UnspecifiedMatching MONDO:0004535 childhood choriocarcinoma of the ovary skos:exactMatch NCIT:C6549 Childhood Ovarian Choriocarcinoma semapv:UnspecifiedMatching MONDO:0004535 childhood choriocarcinoma of the ovary skos:exactMatch UMLS:C1332987 semapv:UnspecifiedMatching MONDO:0004537 intestinal variant cervical mucinous adenocarcinoma skos:exactMatch DOID:8339 intestinal variant cervical mucinous adenocarcinoma semapv:UnspecifiedMatching MONDO:0004537 intestinal variant cervical mucinous adenocarcinoma skos:exactMatch MEDGEN:273124 semapv:UnspecifiedMatching MONDO:0004537 intestinal variant cervical mucinous adenocarcinoma skos:exactMatch NCIT:C40203 Cervical Mucinous Adenocarcinoma, Intestinal-Type semapv:UnspecifiedMatching MONDO:0004537 intestinal variant cervical mucinous adenocarcinoma skos:exactMatch UMLS:C1516422 semapv:UnspecifiedMatching MONDO:0004538 endocervical type cervical mucinous adenocarcinoma skos:exactMatch DOID:8340 endocervical type cervical mucinous adenocarcinoma semapv:UnspecifiedMatching MONDO:0004539 aortic malignant tumor skos:exactMatch DOID:8352 aortic malignant tumor semapv:UnspecifiedMatching MONDO:0004539 aortic malignant tumor skos:exactMatch MEDGEN:235290 semapv:UnspecifiedMatching MONDO:0004539 aortic malignant tumor skos:exactMatch NCIT:C5375 Malignant Aortic Neoplasm semapv:UnspecifiedMatching MONDO:0004539 aortic malignant tumor skos:exactMatch UMLS:C1334560 semapv:UnspecifiedMatching MONDO:0004540 epithelioid malignant peripheral nerve sheath tumor skos:exactMatch DOID:8353 epithelioid malignant peripheral nerve sheath tumor semapv:UnspecifiedMatching MONDO:0004540 epithelioid malignant peripheral nerve sheath tumor skos:exactMatch MEDGEN:272104 semapv:UnspecifiedMatching MONDO:0004540 epithelioid malignant peripheral nerve sheath tumor skos:exactMatch NCIT:C6561 Epithelioid Malignant Peripheral Nerve Sheath Tumor semapv:UnspecifiedMatching MONDO:0004540 epithelioid malignant peripheral nerve sheath tumor skos:exactMatch SCTID:404038007 semapv:UnspecifiedMatching MONDO:0004540 epithelioid malignant peripheral nerve sheath tumor skos:exactMatch UMLS:C1321427 semapv:UnspecifiedMatching MONDO:0004541 pseudoglandular variant testicular seminoma skos:exactMatch DOID:8358 pseudoglandular variant testicular seminoma semapv:UnspecifiedMatching MONDO:0004541 pseudoglandular variant testicular seminoma skos:exactMatch MEDGEN:273633 semapv:UnspecifiedMatching MONDO:0004541 pseudoglandular variant testicular seminoma skos:exactMatch NCIT:C40958 Testicular Seminoma, Pseudoglandular Variant semapv:UnspecifiedMatching MONDO:0004541 pseudoglandular variant testicular seminoma skos:exactMatch UMLS:C1515293 semapv:UnspecifiedMatching MONDO:0004542 cervical adenosquamous carcinoma, glassy cell variant skos:exactMatch DOID:8361 glassy cell variant cervical adenosquamous carcinoma semapv:UnspecifiedMatching MONDO:0004542 cervical adenosquamous carcinoma, glassy cell variant skos:exactMatch MEDGEN:308943 semapv:UnspecifiedMatching MONDO:0004542 cervical adenosquamous carcinoma, glassy cell variant skos:exactMatch NCIT:C40212 Cervical Poorly Differentiated Adenosquamous Carcinoma semapv:UnspecifiedMatching MONDO:0004542 cervical adenosquamous carcinoma, glassy cell variant skos:exactMatch Orphanet:213833 Glassy cell carcinoma of the cervix uteri semapv:UnspecifiedMatching MONDO:0004542 cervical adenosquamous carcinoma, glassy cell variant skos:exactMatch UMLS:C1516407 semapv:UnspecifiedMatching MONDO:0004542 cervical adenosquamous carcinoma, glassy cell variant skos:exactMatch mesh:C536823 semapv:UnspecifiedMatching MONDO:0004543 enteric pattern testicular yolk sac tumor skos:exactMatch DOID:8362 enteric pattern testicular yolk sac tumor semapv:UnspecifiedMatching MONDO:0004543 enteric pattern testicular yolk sac tumor skos:exactMatch MEDGEN:308261 semapv:UnspecifiedMatching MONDO:0004543 enteric pattern testicular yolk sac tumor skos:exactMatch NCIT:C39932 Testicular Yolk Sac Tumor, Enteric Pattern semapv:UnspecifiedMatching MONDO:0004543 enteric pattern testicular yolk sac tumor skos:exactMatch UMLS:C1515304 semapv:UnspecifiedMatching MONDO:0004544 chordoid meningioma skos:exactMatch DOID:8368 chordoid meningioma semapv:UnspecifiedMatching MONDO:0004544 chordoid meningioma skos:exactMatch MEDGEN:235089 semapv:UnspecifiedMatching MONDO:0004544 chordoid meningioma skos:exactMatch NCIT:C6908 Chordoid Meningioma semapv:UnspecifiedMatching MONDO:0004544 chordoid meningioma skos:exactMatch UMLS:C1370510 semapv:UnspecifiedMatching MONDO:0004545 adult malignant schwannoma skos:exactMatch DOID:8369 adult malignant schwannoma semapv:UnspecifiedMatching MONDO:0004545 adult malignant schwannoma skos:exactMatch MEDGEN:75845 semapv:UnspecifiedMatching MONDO:0004545 adult malignant schwannoma skos:exactMatch NCIT:C7814 Adult Malignant Peripheral Nerve Sheath Tumor semapv:UnspecifiedMatching MONDO:0004545 adult malignant schwannoma skos:exactMatch UMLS:C0278622 semapv:UnspecifiedMatching MONDO:0004546 lumbar plexus neoplasm skos:exactMatch DOID:8389 lumbar plexus neoplasm semapv:UnspecifiedMatching MONDO:0004546 lumbar plexus neoplasm skos:exactMatch MEDGEN:272802 semapv:UnspecifiedMatching MONDO:0004546 lumbar plexus neoplasm skos:exactMatch NCIT:C5824 Lumbar Plexus Neoplasm semapv:UnspecifiedMatching MONDO:0004546 lumbar plexus neoplasm skos:exactMatch UMLS:C1334437 semapv:UnspecifiedMatching MONDO:0004547 reticular pattern testicular yolk sac tumor skos:exactMatch DOID:8392 reticular pattern testicular yolk sac tumor semapv:UnspecifiedMatching MONDO:0004547 reticular pattern testicular yolk sac tumor skos:exactMatch MEDGEN:271773 semapv:UnspecifiedMatching MONDO:0004547 reticular pattern testicular yolk sac tumor skos:exactMatch NCIT:C39923 Testicular Yolk Sac Tumor, Microcystic Pattern semapv:UnspecifiedMatching MONDO:0004547 reticular pattern testicular yolk sac tumor skos:exactMatch UMLS:C1515308 semapv:UnspecifiedMatching MONDO:0004548 adult type testicular granulosa cell tumor skos:exactMatch DOID:8394 adult type testicular granulosa cell tumor semapv:UnspecifiedMatching MONDO:0004548 adult type testicular granulosa cell tumor skos:exactMatch MEDGEN:272840 semapv:UnspecifiedMatching MONDO:0004548 adult type testicular granulosa cell tumor skos:exactMatch NCIT:C39946 Adult Testicular Granulosa Cell Tumor semapv:UnspecifiedMatching MONDO:0004548 adult type testicular granulosa cell tumor skos:exactMatch UMLS:C1515284 semapv:UnspecifiedMatching MONDO:0004549 cork-handlers' disease skos:exactMatch DOID:840 cork-handlers' disease semapv:UnspecifiedMatching MONDO:0004549 cork-handlers' disease skos:exactMatch ICD10CM:J67.3 Suberosis semapv:UnspecifiedMatching MONDO:0004549 cork-handlers' disease skos:exactMatch MEDGEN:508891 semapv:UnspecifiedMatching MONDO:0004549 cork-handlers' disease skos:exactMatch SCTID:13394002 semapv:UnspecifiedMatching MONDO:0004549 cork-handlers' disease skos:exactMatch UMLS:C0152108 semapv:UnspecifiedMatching MONDO:0004550 malignant cornea melanoma skos:exactMatch DOID:8400 malignant cornea melanoma semapv:UnspecifiedMatching MONDO:0004550 malignant cornea melanoma skos:exactMatch MEDGEN:138061 semapv:UnspecifiedMatching MONDO:0004550 malignant cornea melanoma skos:exactMatch NCIT:C4553 Corneal Melanoma semapv:UnspecifiedMatching MONDO:0004550 malignant cornea melanoma skos:exactMatch UMLS:C0346367 semapv:UnspecifiedMatching MONDO:0004551 Meckel diverticulitis skos:exactMatch DOID:8408 Meckel's diverticulitis semapv:UnspecifiedMatching MONDO:0004551 Meckel diverticulitis skos:exactMatch MEDGEN:75634 semapv:UnspecifiedMatching MONDO:0004551 Meckel diverticulitis skos:exactMatch NCIT:C27300 Meckel Diverticulitis semapv:UnspecifiedMatching MONDO:0004551 Meckel diverticulitis skos:exactMatch SCTID:48241004 semapv:UnspecifiedMatching MONDO:0004551 Meckel diverticulitis skos:exactMatch UMLS:C0267497 semapv:UnspecifiedMatching MONDO:0004551 Meckel diverticulitis skos:exactMatch icd11.foundation:543494453 Meckel diverticulitis semapv:UnspecifiedMatching MONDO:0004552 microinvasive cervical squamous cell carcinoma skos:exactMatch DOID:8409 microinvasive cervical squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0004552 microinvasive cervical squamous cell carcinoma skos:exactMatch MEDGEN:272565 semapv:UnspecifiedMatching MONDO:0004552 microinvasive cervical squamous cell carcinoma skos:exactMatch NCIT:C36094 Microinvasive Cervical Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0004552 microinvasive cervical squamous cell carcinoma skos:exactMatch UMLS:C1333370 semapv:UnspecifiedMatching MONDO:0004554 childhood kidney angiomyolipoma skos:exactMatch DOID:8410 childhood kidney angiomyolipoma semapv:UnspecifiedMatching MONDO:0004554 childhood kidney angiomyolipoma skos:exactMatch MEDGEN:272468 semapv:UnspecifiedMatching MONDO:0004554 childhood kidney angiomyolipoma skos:exactMatch NCIT:C6565 Childhood Kidney Angiomyolipoma semapv:UnspecifiedMatching MONDO:0004554 childhood kidney angiomyolipoma skos:exactMatch UMLS:C1333000 semapv:UnspecifiedMatching MONDO:0004555 kidney angiomyolipoma skos:exactMatch DOID:8411 kidney angiomyolipoma semapv:UnspecifiedMatching MONDO:0004555 kidney angiomyolipoma skos:exactMatch MEDGEN:69146 semapv:UnspecifiedMatching MONDO:0004555 kidney angiomyolipoma skos:exactMatch NCIT:C3888 Kidney Angiomyolipoma semapv:UnspecifiedMatching MONDO:0004555 kidney angiomyolipoma skos:exactMatch SCTID:254921004 semapv:UnspecifiedMatching MONDO:0004555 kidney angiomyolipoma skos:exactMatch UMLS:C0241961 semapv:UnspecifiedMatching MONDO:0004556 carcinoma arising in nasal papillomatosis skos:exactMatch DOID:8415 carcinoma arising in nasal papillomatosis semapv:UnspecifiedMatching MONDO:0004556 carcinoma arising in nasal papillomatosis skos:exactMatch MEDGEN:272434 semapv:UnspecifiedMatching MONDO:0004556 carcinoma arising in nasal papillomatosis skos:exactMatch NCIT:C27389 Carcinoma Arising in Nasal Papillomatosis semapv:UnspecifiedMatching MONDO:0004556 carcinoma arising in nasal papillomatosis skos:exactMatch UMLS:C1332840 semapv:UnspecifiedMatching MONDO:0004557 congenital fibrosarcoma skos:exactMatch DOID:8418 congenital fibrosarcoma semapv:UnspecifiedMatching MONDO:0004557 congenital fibrosarcoma skos:exactMatch MEDGEN:87246 semapv:UnspecifiedMatching MONDO:0004557 congenital fibrosarcoma skos:exactMatch NCIT:C4244 Infantile Fibrosarcoma semapv:UnspecifiedMatching MONDO:0004557 congenital fibrosarcoma skos:exactMatch SCTID:403996004 semapv:UnspecifiedMatching MONDO:0004557 congenital fibrosarcoma skos:exactMatch UMLS:C0334459 semapv:UnspecifiedMatching MONDO:0004558 thyroid gland macrofollicular adenoma skos:exactMatch DOID:8419 colloid adenoma semapv:UnspecifiedMatching MONDO:0004558 thyroid gland macrofollicular adenoma skos:exactMatch MEDGEN:90763 semapv:UnspecifiedMatching MONDO:0004558 thyroid gland macrofollicular adenoma skos:exactMatch NCIT:C4161 Thyroid Gland Macrofollicular Adenoma semapv:UnspecifiedMatching MONDO:0004558 thyroid gland macrofollicular adenoma skos:exactMatch UMLS:C0334329 semapv:UnspecifiedMatching MONDO:0004559 malignant glandular tumor of peripheral nerve sheath skos:exactMatch DOID:8420 malignant glandular tumor of peripheral nerve sheath semapv:UnspecifiedMatching MONDO:0004559 malignant glandular tumor of peripheral nerve sheath skos:exactMatch MEDGEN:232558 semapv:UnspecifiedMatching MONDO:0004559 malignant glandular tumor of peripheral nerve sheath skos:exactMatch NCIT:C6560 Glandular Malignant Peripheral Nerve Sheath Tumor semapv:UnspecifiedMatching MONDO:0004559 malignant glandular tumor of peripheral nerve sheath skos:exactMatch SCTID:699659007 semapv:UnspecifiedMatching MONDO:0004559 malignant glandular tumor of peripheral nerve sheath skos:exactMatch UMLS:C1333821 semapv:UnspecifiedMatching MONDO:0004560 follicular infundibulum tumor skos:exactMatch DOID:8426 follicular infundibulum tumor semapv:UnspecifiedMatching MONDO:0004560 follicular infundibulum tumor skos:exactMatch MEDGEN:138031 semapv:UnspecifiedMatching MONDO:0004560 follicular infundibulum tumor skos:exactMatch NCIT:C4469 Tumor of the Follicular Infundibulum semapv:UnspecifiedMatching MONDO:0004560 follicular infundibulum tumor skos:exactMatch SCTID:254694002 semapv:UnspecifiedMatching MONDO:0004560 follicular infundibulum tumor skos:exactMatch UMLS:C0346006 semapv:UnspecifiedMatching MONDO:0004561 retinal melanoma skos:exactMatch DOID:8427 retinal melanoma semapv:UnspecifiedMatching MONDO:0004561 retinal melanoma skos:exactMatch MEDGEN:163431 semapv:UnspecifiedMatching MONDO:0004561 retinal melanoma skos:exactMatch NCIT:C8601 Retinal Melanoma semapv:UnspecifiedMatching MONDO:0004561 retinal melanoma skos:exactMatch SCTID:423673009 semapv:UnspecifiedMatching MONDO:0004561 retinal melanoma skos:exactMatch UMLS:C0853394 semapv:UnspecifiedMatching MONDO:0004562 breast apocrine carcinoma in situ skos:exactMatch DOID:8428 breast apocrine carcinoma in situ semapv:UnspecifiedMatching MONDO:0004562 breast apocrine carcinoma in situ skos:exactMatch MEDGEN:231073 semapv:UnspecifiedMatching MONDO:0004562 breast apocrine carcinoma in situ skos:exactMatch NCIT:C5140 Breast Apocrine Carcinoma In Situ semapv:UnspecifiedMatching MONDO:0004562 breast apocrine carcinoma in situ skos:exactMatch UMLS:C1332315 semapv:UnspecifiedMatching MONDO:0004563 physiological polycythemia skos:exactMatch DOID:8431 physiological polycythemia semapv:UnspecifiedMatching MONDO:0004563 physiological polycythemia skos:exactMatch MEDGEN:163545 semapv:UnspecifiedMatching MONDO:0004563 physiological polycythemia skos:exactMatch NCIT:C27311 Physiological Polycythemia semapv:UnspecifiedMatching MONDO:0004563 physiological polycythemia skos:exactMatch UMLS:C0856817 semapv:UnspecifiedMatching MONDO:0004564 thyroid malformation skos:exactMatch DOID:8433 thyroid malformation semapv:UnspecifiedMatching MONDO:0004564 thyroid malformation skos:exactMatch MEDGEN:209098 semapv:UnspecifiedMatching MONDO:0004564 thyroid malformation skos:exactMatch NCIT:C27331 Thyroid Gland Malformation semapv:UnspecifiedMatching MONDO:0004564 thyroid malformation skos:exactMatch UMLS:C0877367 semapv:UnspecifiedMatching MONDO:0004565 intestinal obstruction skos:exactMatch DOID:8437 intestinal obstruction semapv:UnspecifiedMatching MONDO:0004565 intestinal obstruction skos:exactMatch MEDGEN:43933 semapv:UnspecifiedMatching MONDO:0004565 intestinal obstruction skos:exactMatch NCIT:C9175 Bowel Obstruction semapv:UnspecifiedMatching MONDO:0004565 intestinal obstruction skos:exactMatch SCTID:81060008 semapv:UnspecifiedMatching MONDO:0004565 intestinal obstruction skos:exactMatch UMLS:C0021843 semapv:UnspecifiedMatching MONDO:0004565 intestinal obstruction skos:exactMatch mesh:D007415 semapv:UnspecifiedMatching MONDO:0004566 postgastrectomy syndrome skos:exactMatch DOID:8439 postgastrectomy syndrome semapv:UnspecifiedMatching MONDO:0004566 postgastrectomy syndrome skos:exactMatch ICD10CM:K91.1 Postgastric surgery syndromes semapv:UnspecifiedMatching MONDO:0004566 postgastrectomy syndrome skos:exactMatch MEDGEN:18588 semapv:UnspecifiedMatching MONDO:0004566 postgastrectomy syndrome skos:exactMatch SCTID:80193009 semapv:UnspecifiedMatching MONDO:0004566 postgastrectomy syndrome skos:exactMatch UMLS:C0032763 semapv:UnspecifiedMatching MONDO:0004566 postgastrectomy syndrome skos:exactMatch mesh:D011178 semapv:UnspecifiedMatching MONDO:0004567 ileus skos:exactMatch DOID:8440 ileus semapv:UnspecifiedMatching MONDO:0004567 ileus skos:exactMatch MEDGEN:219874 semapv:UnspecifiedMatching MONDO:0004567 ileus skos:exactMatch NCIT:C37979 Ileus semapv:UnspecifiedMatching MONDO:0004567 ileus skos:exactMatch SCTID:710572000 semapv:UnspecifiedMatching MONDO:0004567 ileus skos:exactMatch UMLS:C1258215 semapv:UnspecifiedMatching MONDO:0004567 ileus skos:exactMatch mesh:D045823 semapv:UnspecifiedMatching MONDO:0004568 paralytic ileus skos:exactMatch DOID:8442 paralytic ileus semapv:UnspecifiedMatching MONDO:0004568 paralytic ileus skos:exactMatch ICD10CM:K56.0 Paralytic ileus semapv:UnspecifiedMatching MONDO:0004568 paralytic ileus skos:exactMatch MEDGEN:18293 semapv:UnspecifiedMatching MONDO:0004568 paralytic ileus skos:exactMatch NCIT:C93045 Paralytic Ileus semapv:UnspecifiedMatching MONDO:0004568 paralytic ileus skos:exactMatch SCTID:55525008 semapv:UnspecifiedMatching MONDO:0004568 paralytic ileus skos:exactMatch UMLS:C0030446 semapv:UnspecifiedMatching MONDO:0004568 paralytic ileus skos:exactMatch icd11.foundation:1868011045 Paralytic ileus semapv:UnspecifiedMatching MONDO:0004569 brachial plexus neuropathy from injury skos:exactMatch DOID:8443 brachial plexus lesion semapv:UnspecifiedMatching MONDO:0004569 brachial plexus neuropathy from injury skos:exactMatch MEDGEN:507501 semapv:UnspecifiedMatching MONDO:0004569 brachial plexus neuropathy from injury skos:exactMatch UMLS:C0006091 semapv:UnspecifiedMatching MONDO:0004570 intestinal volvulus skos:exactMatch DOID:8445 intestinal volvulus semapv:UnspecifiedMatching MONDO:0004570 intestinal volvulus skos:exactMatch ICD10CM:K56.2 Volvulus semapv:UnspecifiedMatching MONDO:0004570 intestinal volvulus skos:exactMatch MEDGEN:21892 semapv:UnspecifiedMatching MONDO:0004570 intestinal volvulus skos:exactMatch SCTID:9707006 semapv:UnspecifiedMatching MONDO:0004570 intestinal volvulus skos:exactMatch UMLS:C0042961 semapv:UnspecifiedMatching MONDO:0004570 intestinal volvulus skos:exactMatch mesh:D045822 semapv:UnspecifiedMatching MONDO:0004571 intestinal impaction skos:exactMatch DOID:8448 intestinal impaction semapv:UnspecifiedMatching MONDO:0004571 intestinal impaction skos:exactMatch MEDGEN:581145 semapv:UnspecifiedMatching MONDO:0004571 intestinal impaction skos:exactMatch SCTID:62851005 semapv:UnspecifiedMatching MONDO:0004571 intestinal impaction skos:exactMatch UMLS:C0392503 semapv:UnspecifiedMatching MONDO:0004572 cyclothymic disorder skos:exactMatch DOID:845 cyclothymic disorder semapv:UnspecifiedMatching MONDO:0004572 cyclothymic disorder skos:exactMatch ICD10CM:F34.0 Cyclothymic disorder semapv:UnspecifiedMatching MONDO:0004572 cyclothymic disorder skos:exactMatch MEDGEN:1198 semapv:UnspecifiedMatching MONDO:0004572 cyclothymic disorder skos:exactMatch SCTID:76105009 semapv:UnspecifiedMatching MONDO:0004572 cyclothymic disorder skos:exactMatch UMLS:C0010598 semapv:UnspecifiedMatching MONDO:0004572 cyclothymic disorder skos:exactMatch icd11.foundation:1427638883 Cyclothymic disorder semapv:UnspecifiedMatching MONDO:0004572 cyclothymic disorder skos:exactMatch mesh:D003527 semapv:UnspecifiedMatching MONDO:0004573 ariboflavinosis skos:exactMatch DOID:8454 riboflavin deficiency semapv:UnspecifiedMatching MONDO:0004573 ariboflavinosis skos:exactMatch ICD10CM:E53.0 Riboflavin deficiency semapv:UnspecifiedMatching MONDO:0004573 ariboflavinosis skos:exactMatch MEDGEN:1830329 semapv:UnspecifiedMatching MONDO:0004573 ariboflavinosis skos:exactMatch OMIM:615026 riboflavin deficiency semapv:UnspecifiedMatching MONDO:0004573 ariboflavinosis skos:exactMatch SCTID:20307000 semapv:UnspecifiedMatching MONDO:0004573 ariboflavinosis skos:exactMatch UMLS:C5779638 semapv:UnspecifiedMatching MONDO:0004574 pyridoxine deficiency anemia skos:exactMatch DOID:8455 pyridoxine deficiency anemia semapv:UnspecifiedMatching MONDO:0004574 pyridoxine deficiency anemia skos:exactMatch MEDGEN:543733 semapv:UnspecifiedMatching MONDO:0004574 pyridoxine deficiency anemia skos:exactMatch NCIT:C85221 Vitamin B6 Deficiency semapv:UnspecifiedMatching MONDO:0004574 pyridoxine deficiency anemia skos:exactMatch SCTID:86448001 semapv:UnspecifiedMatching MONDO:0004574 pyridoxine deficiency anemia skos:exactMatch UMLS:C0272013 semapv:UnspecifiedMatching MONDO:0004574 pyridoxine deficiency anemia skos:exactMatch mesh:D026681 semapv:UnspecifiedMatching MONDO:0004575 choline deficiency disease skos:exactMatch DOID:8456 choline deficiency disease semapv:UnspecifiedMatching MONDO:0004575 choline deficiency disease skos:exactMatch MEDGEN:930 semapv:UnspecifiedMatching MONDO:0004575 choline deficiency disease skos:exactMatch SCTID:238113006 semapv:UnspecifiedMatching MONDO:0004575 choline deficiency disease skos:exactMatch UMLS:C0008412 semapv:UnspecifiedMatching MONDO:0004575 choline deficiency disease skos:exactMatch mesh:D002796 semapv:UnspecifiedMatching MONDO:0004577 corneal ulcer skos:exactMatch DOID:8463 corneal ulcer semapv:UnspecifiedMatching MONDO:0004577 corneal ulcer skos:exactMatch ICD10CM:H16.0 Corneal ulcer semapv:UnspecifiedMatching MONDO:0004577 corneal ulcer skos:exactMatch MEDGEN:40486 semapv:UnspecifiedMatching MONDO:0004577 corneal ulcer skos:exactMatch NCIT:C50515 Corneal Ulcer semapv:UnspecifiedMatching MONDO:0004577 corneal ulcer skos:exactMatch SCTID:91514001 semapv:UnspecifiedMatching MONDO:0004577 corneal ulcer skos:exactMatch UMLS:C0010043 semapv:UnspecifiedMatching MONDO:0004577 corneal ulcer skos:exactMatch icd11.foundation:2089700977 Corneal ulcer semapv:UnspecifiedMatching MONDO:0004577 corneal ulcer skos:exactMatch mesh:D003320 semapv:UnspecifiedMatching MONDO:0004578 flat retinoschisis skos:exactMatch DOID:8464 flat retinoschisis semapv:UnspecifiedMatching MONDO:0004578 flat retinoschisis skos:exactMatch MEDGEN:509672 semapv:UnspecifiedMatching MONDO:0004578 flat retinoschisis skos:exactMatch SCTID:83405000 semapv:UnspecifiedMatching MONDO:0004578 flat retinoschisis skos:exactMatch UMLS:C0154817 semapv:UnspecifiedMatching MONDO:0004579 retinoschisis skos:exactMatch DOID:8465 retinoschisis semapv:UnspecifiedMatching MONDO:0004579 retinoschisis skos:exactMatch MEDGEN:56292 semapv:UnspecifiedMatching MONDO:0004579 retinoschisis skos:exactMatch NCIT:C85046 Retinoschisis semapv:UnspecifiedMatching MONDO:0004579 retinoschisis skos:exactMatch SCTID:44268007 semapv:UnspecifiedMatching MONDO:0004579 retinoschisis skos:exactMatch UMLS:C0152439 semapv:UnspecifiedMatching MONDO:0004579 retinoschisis skos:exactMatch icd11.foundation:1118046584 Retinoschisis semapv:UnspecifiedMatching MONDO:0004579 retinoschisis skos:exactMatch mesh:D041441 semapv:UnspecifiedMatching MONDO:0004580 retinal degeneration skos:exactMatch DOID:8466 retinal degeneration semapv:UnspecifiedMatching MONDO:0004580 retinal degeneration skos:exactMatch MEDGEN:48432 semapv:UnspecifiedMatching MONDO:0004580 retinal degeneration skos:exactMatch NCIT:C34979 Retinal Degeneration semapv:UnspecifiedMatching MONDO:0004580 retinal degeneration skos:exactMatch SCTID:95695004 semapv:UnspecifiedMatching MONDO:0004580 retinal degeneration skos:exactMatch UMLS:C0035304 semapv:UnspecifiedMatching MONDO:0004580 retinal degeneration skos:exactMatch mesh:D012162 semapv:UnspecifiedMatching MONDO:0004582 rheumatic myocarditis skos:exactMatch DOID:8481 rheumatic myocarditis semapv:UnspecifiedMatching MONDO:0004582 rheumatic myocarditis skos:exactMatch ICD10CM:I09.0 Rheumatic myocarditis semapv:UnspecifiedMatching MONDO:0004582 rheumatic myocarditis skos:exactMatch MEDGEN:56370 semapv:UnspecifiedMatching MONDO:0004582 rheumatic myocarditis skos:exactMatch NCIT:C35202 Acute Rheumatic Myocarditis semapv:UnspecifiedMatching MONDO:0004582 rheumatic myocarditis skos:exactMatch SCTID:195136004 semapv:UnspecifiedMatching MONDO:0004582 rheumatic myocarditis skos:exactMatch UMLS:C0155557 semapv:UnspecifiedMatching MONDO:0004582 rheumatic myocarditis skos:exactMatch icd11.foundation:1177212968 Rheumatic myocarditis semapv:UnspecifiedMatching MONDO:0004583 transient retinal arterial occlusion skos:exactMatch DOID:8482 transient retinal arterial occlusion semapv:UnspecifiedMatching MONDO:0004583 transient retinal arterial occlusion skos:exactMatch MEDGEN:102320 semapv:UnspecifiedMatching MONDO:0004583 transient retinal arterial occlusion skos:exactMatch NCIT:C35193 Transient Retinal Arterial Occlusion semapv:UnspecifiedMatching MONDO:0004583 transient retinal arterial occlusion skos:exactMatch SCTID:87224000 semapv:UnspecifiedMatching MONDO:0004583 transient retinal arterial occlusion skos:exactMatch UMLS:C0154840 semapv:UnspecifiedMatching MONDO:0004584 maple bark strippers' lung skos:exactMatch DOID:8484 maple bark strippers' lung semapv:UnspecifiedMatching MONDO:0004584 maple bark strippers' lung skos:exactMatch ICD10CM:J67.6 Maple-bark-stripper's lung semapv:UnspecifiedMatching MONDO:0004584 maple bark strippers' lung skos:exactMatch MEDGEN:510126 semapv:UnspecifiedMatching MONDO:0004584 maple bark strippers' lung skos:exactMatch SCTID:86638007 semapv:UnspecifiedMatching MONDO:0004584 maple bark strippers' lung skos:exactMatch UMLS:C0155890 semapv:UnspecifiedMatching MONDO:0004585 polyhydramnios skos:exactMatch DOID:8488 polyhydramnios semapv:UnspecifiedMatching MONDO:0004585 polyhydramnios skos:exactMatch ICD10CM:O40 Polyhydramnios semapv:UnspecifiedMatching MONDO:0004585 polyhydramnios skos:exactMatch ICD10WHO:O40 Polyhydramnios semapv:UnspecifiedMatching MONDO:0004585 polyhydramnios skos:exactMatch MEDGEN:6936 semapv:UnspecifiedMatching MONDO:0004585 polyhydramnios skos:exactMatch SCTID:86203003 semapv:UnspecifiedMatching MONDO:0004585 polyhydramnios skos:exactMatch UMLS:C0020224 semapv:UnspecifiedMatching MONDO:0004585 polyhydramnios skos:exactMatch mesh:D006831 semapv:UnspecifiedMatching MONDO:0004586 rheumatoid arthritis-associated interstitial lung disease skos:exactMatch DOID:849 rheumatoid arthritis interstitial lung disease semapv:UnspecifiedMatching MONDO:0004586 rheumatoid arthritis-associated interstitial lung disease skos:exactMatch MEDGEN:681135 semapv:UnspecifiedMatching MONDO:0004586 rheumatoid arthritis-associated interstitial lung disease skos:exactMatch SCTID:398726004 semapv:UnspecifiedMatching MONDO:0004586 rheumatoid arthritis-associated interstitial lung disease skos:exactMatch UMLS:C0994344 semapv:UnspecifiedMatching MONDO:0004588 night blindness skos:exactMatch DOID:8499 night blindness semapv:UnspecifiedMatching MONDO:0004588 night blindness skos:exactMatch ICD10CM:H53.6 Night blindness semapv:UnspecifiedMatching MONDO:0004588 night blindness skos:exactMatch MEDGEN:10349 semapv:UnspecifiedMatching MONDO:0004588 night blindness skos:exactMatch NCIT:C34850 Night Blindness semapv:UnspecifiedMatching MONDO:0004588 night blindness skos:exactMatch SCTID:65194006 semapv:UnspecifiedMatching MONDO:0004588 night blindness skos:exactMatch UMLS:C0028077 semapv:UnspecifiedMatching MONDO:0004588 night blindness skos:exactMatch icd11.foundation:205882698 Night blindness semapv:UnspecifiedMatching MONDO:0004588 night blindness skos:exactMatch mesh:D009755 semapv:UnspecifiedMatching MONDO:0004591 impetigo herpetiformis skos:exactMatch DOID:8503 impetigo herpetiformis semapv:UnspecifiedMatching MONDO:0004591 impetigo herpetiformis skos:exactMatch MEDGEN:727290 semapv:UnspecifiedMatching MONDO:0004591 impetigo herpetiformis skos:exactMatch SCTID:65539006 semapv:UnspecifiedMatching MONDO:0004591 impetigo herpetiformis skos:exactMatch UMLS:C1314968 semapv:UnspecifiedMatching MONDO:0004592 impetigo skos:exactMatch DOID:8504 impetigo semapv:UnspecifiedMatching MONDO:0004592 impetigo skos:exactMatch ICD10CM:L01 Impetigo semapv:UnspecifiedMatching MONDO:0004592 impetigo skos:exactMatch ICD10CM:L01.0 Impetigo semapv:UnspecifiedMatching MONDO:0004592 impetigo skos:exactMatch ICD10WHO:L01 Impetigo semapv:UnspecifiedMatching MONDO:0004592 impetigo skos:exactMatch MEDGEN:9440 semapv:UnspecifiedMatching MONDO:0004592 impetigo skos:exactMatch NCIT:C99088 Impetigo semapv:UnspecifiedMatching MONDO:0004592 impetigo skos:exactMatch SCTID:48277006 semapv:UnspecifiedMatching MONDO:0004592 impetigo skos:exactMatch UMLS:C0021099 semapv:UnspecifiedMatching MONDO:0004592 impetigo skos:exactMatch icd11.foundation:971176543 Impetigo semapv:UnspecifiedMatching MONDO:0004592 impetigo skos:exactMatch mesh:D007169 semapv:UnspecifiedMatching MONDO:0004593 Bartholin duct cyst skos:exactMatch DOID:851 Bartholin's duct cyst semapv:UnspecifiedMatching MONDO:0004593 Bartholin duct cyst skos:exactMatch ICD10CM:N75.0 Cyst of Bartholin's gland semapv:UnspecifiedMatching MONDO:0004593 Bartholin duct cyst skos:exactMatch MEDGEN:14032 semapv:UnspecifiedMatching MONDO:0004593 Bartholin duct cyst skos:exactMatch SCTID:57044006 semapv:UnspecifiedMatching MONDO:0004593 Bartholin duct cyst skos:exactMatch UMLS:C0004767 semapv:UnspecifiedMatching MONDO:0004594 puerperal pulmonary embolism skos:exactMatch DOID:8512 puerperal pulmonary embolism semapv:UnspecifiedMatching MONDO:0004594 puerperal pulmonary embolism skos:exactMatch MEDGEN:510381 semapv:UnspecifiedMatching MONDO:0004594 puerperal pulmonary embolism skos:exactMatch SCTID:200284000 semapv:UnspecifiedMatching MONDO:0004594 puerperal pulmonary embolism skos:exactMatch UMLS:C0157540 semapv:UnspecifiedMatching MONDO:0004596 cor pulmonale skos:exactMatch DOID:8515 Cor pulmonale semapv:UnspecifiedMatching MONDO:0004596 cor pulmonale skos:exactMatch ICD10CM:I27.81 Cor pulmonale (chronic) semapv:UnspecifiedMatching MONDO:0004596 cor pulmonale skos:exactMatch MEDGEN:18765 semapv:UnspecifiedMatching MONDO:0004596 cor pulmonale skos:exactMatch SCTID:274096000 semapv:UnspecifiedMatching MONDO:0004596 cor pulmonale skos:exactMatch UMLS:C0034072 semapv:UnspecifiedMatching MONDO:0004596 cor pulmonale skos:exactMatch icd11.foundation:738218522 Cor pulmonale semapv:UnspecifiedMatching MONDO:0004596 cor pulmonale skos:exactMatch mesh:D011660 semapv:UnspecifiedMatching MONDO:0004597 pulmonary embolism and infarction skos:exactMatch DOID:8516 pulmonary embolism and infarction semapv:UnspecifiedMatching MONDO:0004597 pulmonary embolism and infarction skos:exactMatch MEDGEN:19577 semapv:UnspecifiedMatching MONDO:0004597 pulmonary embolism and infarction skos:exactMatch NCIT:C50714 Pulmonary Infarction semapv:UnspecifiedMatching MONDO:0004597 pulmonary embolism and infarction skos:exactMatch SCTID:64662007 semapv:UnspecifiedMatching MONDO:0004597 pulmonary embolism and infarction skos:exactMatch UMLS:C0034074 semapv:UnspecifiedMatching MONDO:0004597 pulmonary embolism and infarction skos:exactMatch mesh:D054060 semapv:UnspecifiedMatching MONDO:0004598 acute cor pulmonale skos:exactMatch DOID:8514 acute pulmonary heart disease semapv:UnspecifiedMatching MONDO:0004598 acute cor pulmonale skos:exactMatch DOID:8517 acute cor pulmonale semapv:UnspecifiedMatching MONDO:0004598 acute cor pulmonale skos:exactMatch MEDGEN:510041 semapv:UnspecifiedMatching MONDO:0004598 acute cor pulmonale skos:exactMatch SCTID:49584005 semapv:UnspecifiedMatching MONDO:0004598 acute cor pulmonale skos:exactMatch SCTID:67189007 semapv:UnspecifiedMatching MONDO:0004598 acute cor pulmonale skos:exactMatch UMLS:C0155671 semapv:UnspecifiedMatching MONDO:0004599 barbiturate abuse skos:exactMatch DOID:8519 barbiturate abuse semapv:UnspecifiedMatching MONDO:0004599 barbiturate abuse skos:exactMatch MEDGEN:572718 semapv:UnspecifiedMatching MONDO:0004599 barbiturate abuse skos:exactMatch SCTID:231462006 semapv:UnspecifiedMatching MONDO:0004599 barbiturate abuse skos:exactMatch UMLS:C0338700 semapv:UnspecifiedMatching MONDO:0004600 monocytic leukemia skos:exactMatch DOID:8527 monocytic leukemia semapv:UnspecifiedMatching MONDO:0004600 monocytic leukemia skos:exactMatch ICD10CM:C93 Monocytic leukemia semapv:UnspecifiedMatching MONDO:0004600 monocytic leukemia skos:exactMatch MEDGEN:109338 semapv:UnspecifiedMatching MONDO:0004600 monocytic leukemia skos:exactMatch SCTID:188744006 semapv:UnspecifiedMatching MONDO:0004600 monocytic leukemia skos:exactMatch UMLS:C0598894 semapv:UnspecifiedMatching MONDO:0004601 ulcer of lower limbs skos:exactMatch DOID:8529 ulcer of lower limbs semapv:UnspecifiedMatching MONDO:0004601 ulcer of lower limbs skos:exactMatch MEDGEN:9701 semapv:UnspecifiedMatching MONDO:0004601 ulcer of lower limbs skos:exactMatch SCTID:419193008 semapv:UnspecifiedMatching MONDO:0004601 ulcer of lower limbs skos:exactMatch UMLS:C0023223 semapv:UnspecifiedMatching MONDO:0004604 Hodgkin's lymphoma, lymphocytic-histiocytic predominance skos:exactMatch DOID:8543 Hodgkin's lymphoma, lymphocytic-histiocytic predominance semapv:UnspecifiedMatching MONDO:0004604 Hodgkin's lymphoma, lymphocytic-histiocytic predominance skos:exactMatch MEDGEN:224769 semapv:UnspecifiedMatching MONDO:0004604 Hodgkin's lymphoma, lymphocytic-histiocytic predominance skos:exactMatch NCIT:C6913 Lymphocyte-Rich Classic Hodgkin Lymphoma semapv:UnspecifiedMatching MONDO:0004604 Hodgkin's lymphoma, lymphocytic-histiocytic predominance skos:exactMatch Orphanet:98845 Classic Hodgkin lymphoma, lymphocyte-rich type semapv:UnspecifiedMatching MONDO:0004604 Hodgkin's lymphoma, lymphocytic-histiocytic predominance skos:exactMatch SCTID:118607005 semapv:UnspecifiedMatching MONDO:0004604 Hodgkin's lymphoma, lymphocytic-histiocytic predominance skos:exactMatch UMLS:C1266194 semapv:UnspecifiedMatching MONDO:0004604 Hodgkin's lymphoma, lymphocytic-histiocytic predominance skos:exactMatch icd11.foundation:352299041 Lymphocyte-rich classical Hodgkin lymphoma semapv:UnspecifiedMatching MONDO:0004605 chronic ulcer of skin skos:exactMatch DOID:8549 chronic ulcer of skin semapv:UnspecifiedMatching MONDO:0004605 chronic ulcer of skin skos:exactMatch MEDGEN:510410 semapv:UnspecifiedMatching MONDO:0004605 chronic ulcer of skin skos:exactMatch SCTID:19429009 semapv:UnspecifiedMatching MONDO:0004605 chronic ulcer of skin skos:exactMatch UMLS:C0157738 semapv:UnspecifiedMatching MONDO:0004607 vallecula cancer skos:exactMatch DOID:8556 vallecula cancer semapv:UnspecifiedMatching MONDO:0004607 vallecula cancer skos:exactMatch ICD10CM:C10.0 Malignant neoplasm of vallecula semapv:UnspecifiedMatching MONDO:0004607 vallecula cancer skos:exactMatch MEDGEN:509271 semapv:UnspecifiedMatching MONDO:0004607 vallecula cancer skos:exactMatch SCTID:363395000 semapv:UnspecifiedMatching MONDO:0004607 vallecula cancer skos:exactMatch UMLS:C0153386 semapv:UnspecifiedMatching MONDO:0004608 oropharynx cancer skos:exactMatch DOID:8557 oropharynx cancer semapv:UnspecifiedMatching MONDO:0004608 oropharynx cancer skos:exactMatch EFO:1001931 semapv:UnspecifiedMatching MONDO:0004608 oropharynx cancer skos:exactMatch ICD10CM:C10 Malignant neoplasm of oropharynx semapv:UnspecifiedMatching MONDO:0004608 oropharynx cancer skos:exactMatch MEDGEN:57783 semapv:UnspecifiedMatching MONDO:0004608 oropharynx cancer skos:exactMatch NCIT:C7398 Malignant Oropharyngeal Neoplasm semapv:UnspecifiedMatching MONDO:0004608 oropharynx cancer skos:exactMatch UMLS:C0153382 semapv:UnspecifiedMatching MONDO:0004608 oropharynx cancer skos:exactMatch icd11.foundation:1172876400 Malignant neoplasms of oropharynx semapv:UnspecifiedMatching MONDO:0004608 oropharynx cancer skos:exactMatch mesh:D009959 semapv:UnspecifiedMatching MONDO:0004609 herpes simplex infectious disease skos:exactMatch DOID:8566 herpes simplex semapv:UnspecifiedMatching MONDO:0004609 herpes simplex infectious disease skos:exactMatch EFO:1002022 semapv:UnspecifiedMatching MONDO:0004609 herpes simplex infectious disease skos:exactMatch ICD10CM:B00 Herpesviral [herpes simplex] infections semapv:UnspecifiedMatching MONDO:0004609 herpes simplex infectious disease skos:exactMatch MEDGEN:9234 semapv:UnspecifiedMatching MONDO:0004609 herpes simplex infectious disease skos:exactMatch SCTID:88594005 semapv:UnspecifiedMatching MONDO:0004609 herpes simplex infectious disease skos:exactMatch UMLS:C0019348 semapv:UnspecifiedMatching MONDO:0004609 herpes simplex infectious disease skos:exactMatch mesh:D006561 semapv:UnspecifiedMatching MONDO:0004611 soft palate cancer skos:exactMatch DOID:8578 soft palate cancer semapv:UnspecifiedMatching MONDO:0004611 soft palate cancer skos:exactMatch ICD10CM:C05.1 Malignant neoplasm of soft palate semapv:UnspecifiedMatching MONDO:0004611 soft palate cancer skos:exactMatch MEDGEN:57552 semapv:UnspecifiedMatching MONDO:0004611 soft palate cancer skos:exactMatch NCIT:C3529 Malignant Soft Palate Neoplasm semapv:UnspecifiedMatching MONDO:0004611 soft palate cancer skos:exactMatch SCTID:363388009 semapv:UnspecifiedMatching MONDO:0004611 soft palate cancer skos:exactMatch UMLS:C0153376 semapv:UnspecifiedMatching MONDO:0004612 malignant histiocytosis skos:exactMatch DOID:2570 malignant histiocytic disease semapv:UnspecifiedMatching MONDO:0004612 malignant histiocytosis skos:exactMatch MEDGEN:5569 semapv:UnspecifiedMatching MONDO:0004612 malignant histiocytosis skos:exactMatch NCIT:C7202 Malignant Histiocytosis semapv:UnspecifiedMatching MONDO:0004612 malignant histiocytosis skos:exactMatch SCTID:118612006 semapv:UnspecifiedMatching MONDO:0004612 malignant histiocytosis skos:exactMatch UMLS:C0019623 semapv:UnspecifiedMatching MONDO:0004612 malignant histiocytosis skos:exactMatch mesh:D015620 semapv:UnspecifiedMatching MONDO:0004613 acute intestinal ischemia skos:exactMatch DOID:8590 acute vascular insufficiency of intestine semapv:UnspecifiedMatching MONDO:0004613 acute intestinal ischemia skos:exactMatch MEDGEN:116 semapv:UnspecifiedMatching MONDO:0004613 acute intestinal ischemia skos:exactMatch NCIT:C34356 Acute Intestinal Ischemia semapv:UnspecifiedMatching MONDO:0004613 acute intestinal ischemia skos:exactMatch SCTID:91489000 semapv:UnspecifiedMatching MONDO:0004613 acute intestinal ischemia skos:exactMatch UMLS:C0001363 semapv:UnspecifiedMatching MONDO:0004614 chronic monocytic leukemia skos:exactMatch DOID:8593 chronic monocytic leukemia semapv:UnspecifiedMatching MONDO:0004614 chronic monocytic leukemia skos:exactMatch MEDGEN:9729 semapv:UnspecifiedMatching MONDO:0004614 chronic monocytic leukemia skos:exactMatch SCTID:188745007 semapv:UnspecifiedMatching MONDO:0004614 chronic monocytic leukemia skos:exactMatch UMLS:C0023466 semapv:UnspecifiedMatching MONDO:0004615 upper gum cancer skos:exactMatch DOID:8601 upper gum cancer semapv:UnspecifiedMatching MONDO:0004615 upper gum cancer skos:exactMatch MEDGEN:509265 semapv:UnspecifiedMatching MONDO:0004615 upper gum cancer skos:exactMatch SCTID:363383000 semapv:UnspecifiedMatching MONDO:0004615 upper gum cancer skos:exactMatch UMLS:C0153365 semapv:UnspecifiedMatching MONDO:0004616 herpetic whitlow skos:exactMatch DOID:8607 herpetic whitlow semapv:UnspecifiedMatching MONDO:0004616 herpetic whitlow skos:exactMatch MEDGEN:509122 semapv:UnspecifiedMatching MONDO:0004616 herpetic whitlow skos:exactMatch NCIT:C128402 Herpetic Whitlow semapv:UnspecifiedMatching MONDO:0004616 herpetic whitlow skos:exactMatch SCTID:43891009 semapv:UnspecifiedMatching MONDO:0004616 herpetic whitlow skos:exactMatch UMLS:C0153042 semapv:UnspecifiedMatching MONDO:0004617 recurrent hypersomnia skos:exactMatch DOID:8619 recurrent hypersomnia semapv:UnspecifiedMatching MONDO:0004617 recurrent hypersomnia skos:exactMatch ICD10CM:G47.13 Recurrent hypersomnia semapv:UnspecifiedMatching MONDO:0004617 recurrent hypersomnia skos:exactMatch MEDGEN:155520 semapv:UnspecifiedMatching MONDO:0004617 recurrent hypersomnia skos:exactMatch SCTID:426451004 semapv:UnspecifiedMatching MONDO:0004617 recurrent hypersomnia skos:exactMatch UMLS:C0751226 semapv:UnspecifiedMatching MONDO:0004618 diplegia of upper limb skos:exactMatch DOID:862 diplegia of upper limb semapv:UnspecifiedMatching MONDO:0004618 diplegia of upper limb skos:exactMatch ICD10CM:G83.0 Diplegia of upper limbs semapv:UnspecifiedMatching MONDO:0004618 diplegia of upper limb skos:exactMatch MEDGEN:509631 semapv:UnspecifiedMatching MONDO:0004618 diplegia of upper limb skos:exactMatch SCTID:54099005 semapv:UnspecifiedMatching MONDO:0004618 diplegia of upper limb skos:exactMatch UMLS:C0154701 semapv:UnspecifiedMatching MONDO:0004619 measles skos:exactMatch DOID:8622 measles semapv:UnspecifiedMatching MONDO:0004619 measles skos:exactMatch EFO:1002025 semapv:UnspecifiedMatching MONDO:0004619 measles skos:exactMatch ICD10CM:B05 Measles semapv:UnspecifiedMatching MONDO:0004619 measles skos:exactMatch ICD10WHO:B05 Measles semapv:UnspecifiedMatching MONDO:0004619 measles skos:exactMatch MEDGEN:6252 semapv:UnspecifiedMatching MONDO:0004619 measles skos:exactMatch NCIT:C96406 Measles semapv:UnspecifiedMatching MONDO:0004619 measles skos:exactMatch SCTID:14189004 semapv:UnspecifiedMatching MONDO:0004619 measles skos:exactMatch UMLS:C0025007 semapv:UnspecifiedMatching MONDO:0004619 measles skos:exactMatch icd11.foundation:1826431497 Measles semapv:UnspecifiedMatching MONDO:0004619 measles skos:exactMatch mesh:D008457 semapv:UnspecifiedMatching MONDO:0004620 Hodgkin's lymphoma, lymphocytic depletion skos:exactMatch DOID:8628 Hodgkin's lymphoma, lymphocytic depletion semapv:UnspecifiedMatching MONDO:0004620 Hodgkin's lymphoma, lymphocytic depletion skos:exactMatch MEDGEN:57760 semapv:UnspecifiedMatching MONDO:0004620 Hodgkin's lymphoma, lymphocytic depletion skos:exactMatch NCIT:C9125 Adult Lymphocyte-Depleted Classic Hodgkin Lymphoma semapv:UnspecifiedMatching MONDO:0004620 Hodgkin's lymphoma, lymphocytic depletion skos:exactMatch Orphanet:98846 Classic Hodgkin lymphoma, lymphocyte-depleted type semapv:UnspecifiedMatching MONDO:0004620 Hodgkin's lymphoma, lymphocytic depletion skos:exactMatch SCTID:118610003 semapv:UnspecifiedMatching MONDO:0004620 Hodgkin's lymphoma, lymphocytic depletion skos:exactMatch UMLS:C0152267 semapv:UnspecifiedMatching MONDO:0004620 Hodgkin's lymphoma, lymphocytic depletion skos:exactMatch icd11.foundation:1729182645 Lymphocyte depleted classical Hodgkin lymphoma semapv:UnspecifiedMatching MONDO:0004621 upper lip cancer skos:exactMatch DOID:8630 upper lip cancer semapv:UnspecifiedMatching MONDO:0004622 chronic intestinal vascular insufficiency skos:exactMatch DOID:8633 chronic intestinal vascular insufficiency semapv:UnspecifiedMatching MONDO:0004622 chronic intestinal vascular insufficiency skos:exactMatch MEDGEN:90228 semapv:UnspecifiedMatching MONDO:0004622 chronic intestinal vascular insufficiency skos:exactMatch SCTID:111354009 semapv:UnspecifiedMatching MONDO:0004622 chronic intestinal vascular insufficiency skos:exactMatch UMLS:C0311262 semapv:UnspecifiedMatching MONDO:0004624 uvula cancer skos:exactMatch DOID:8635 uvula cancer semapv:UnspecifiedMatching MONDO:0004624 uvula cancer skos:exactMatch MEDGEN:102265 semapv:UnspecifiedMatching MONDO:0004624 uvula cancer skos:exactMatch NCIT:C35177 Malignant Uvula Neoplasm semapv:UnspecifiedMatching MONDO:0004624 uvula cancer skos:exactMatch SCTID:363389001 semapv:UnspecifiedMatching MONDO:0004624 uvula cancer skos:exactMatch UMLS:C0153377 semapv:UnspecifiedMatching MONDO:0004625 phlebitis skos:exactMatch DOID:864 phlebitis semapv:UnspecifiedMatching MONDO:0004625 phlebitis skos:exactMatch EFO:1001395 semapv:UnspecifiedMatching MONDO:0004625 phlebitis skos:exactMatch MEDGEN:18425 semapv:UnspecifiedMatching MONDO:0004625 phlebitis skos:exactMatch NCIT:C38003 Phlebitis semapv:UnspecifiedMatching MONDO:0004625 phlebitis skos:exactMatch SCTID:61599003 semapv:UnspecifiedMatching MONDO:0004625 phlebitis skos:exactMatch UMLS:C0031542 semapv:UnspecifiedMatching MONDO:0004625 phlebitis skos:exactMatch mesh:D010689 semapv:UnspecifiedMatching MONDO:0004626 obsolete Hodgkin's paragranuloma skos:exactMatch DOID:8642 Hodgkin's paragranuloma semapv:UnspecifiedMatching MONDO:0004626 obsolete Hodgkin's paragranuloma skos:exactMatch NCIT:C26956 Hodgkin's Paragranuloma semapv:UnspecifiedMatching MONDO:0004627 duodenitis skos:exactMatch DOID:8643 duodenitis semapv:UnspecifiedMatching MONDO:0004627 duodenitis skos:exactMatch ICD10CM:K29.8 Duodenitis semapv:UnspecifiedMatching MONDO:0004627 duodenitis skos:exactMatch MEDGEN:4419 semapv:UnspecifiedMatching MONDO:0004627 duodenitis skos:exactMatch NCIT:C94409 Duodenitis semapv:UnspecifiedMatching MONDO:0004627 duodenitis skos:exactMatch SCTID:72007001 semapv:UnspecifiedMatching MONDO:0004627 duodenitis skos:exactMatch UMLS:C0013298 semapv:UnspecifiedMatching MONDO:0004627 duodenitis skos:exactMatch icd11.foundation:1595026136 Duodenitis semapv:UnspecifiedMatching MONDO:0004627 duodenitis skos:exactMatch mesh:D004382 semapv:UnspecifiedMatching MONDO:0004628 gastroduodenitis skos:exactMatch DOID:8644 gastroduodenitis semapv:UnspecifiedMatching MONDO:0004628 gastroduodenitis skos:exactMatch MEDGEN:540445 semapv:UnspecifiedMatching MONDO:0004628 gastroduodenitis skos:exactMatch SCTID:196731005 semapv:UnspecifiedMatching MONDO:0004628 gastroduodenitis skos:exactMatch UMLS:C0267166 semapv:UnspecifiedMatching MONDO:0004629 subacute delirium skos:exactMatch DOID:8645 subacute delirium semapv:UnspecifiedMatching MONDO:0004629 subacute delirium skos:exactMatch MEDGEN:56340 semapv:UnspecifiedMatching MONDO:0004629 subacute delirium skos:exactMatch SCTID:191507002 semapv:UnspecifiedMatching MONDO:0004629 subacute delirium skos:exactMatch UMLS:C0154333 semapv:UnspecifiedMatching MONDO:0004630 substance-induced psychosis skos:exactMatch DOID:8646 substance-induced psychosis semapv:UnspecifiedMatching MONDO:0004630 substance-induced psychosis skos:exactMatch MEDGEN:18746 semapv:UnspecifiedMatching MONDO:0004630 substance-induced psychosis skos:exactMatch UMLS:C0033941 semapv:UnspecifiedMatching MONDO:0004631 tongue cancer skos:exactMatch DOID:8649 tongue cancer semapv:UnspecifiedMatching MONDO:0004631 tongue cancer skos:exactMatch MEDGEN:102262 semapv:UnspecifiedMatching MONDO:0004631 tongue cancer skos:exactMatch NCIT:C9345 Malignant Tongue Neoplasm semapv:UnspecifiedMatching MONDO:0004631 tongue cancer skos:exactMatch SCTID:363360003 semapv:UnspecifiedMatching MONDO:0004631 tongue cancer skos:exactMatch UMLS:C0153349 semapv:UnspecifiedMatching MONDO:0004631 tongue cancer skos:exactMatch mesh:D014062 semapv:UnspecifiedMatching MONDO:0004632 obsolete Hodgkin's granuloma skos:exactMatch DOID:8651 Hodgkin's granuloma semapv:UnspecifiedMatching MONDO:0004632 obsolete Hodgkin's granuloma skos:exactMatch NCIT:C6914 Hodgkin's Granuloma semapv:UnspecifiedMatching MONDO:0004632 obsolete Hodgkin's granuloma skos:exactMatch SCTID:118602004 semapv:UnspecifiedMatching MONDO:0004633 Hodgkin's lymphoma, mixed cellularity skos:exactMatch DOID:8654 Hodgkin's lymphoma, mixed cellularity semapv:UnspecifiedMatching MONDO:0004633 Hodgkin's lymphoma, mixed cellularity skos:exactMatch EFO:1002031 semapv:UnspecifiedMatching MONDO:0004633 Hodgkin's lymphoma, mixed cellularity skos:exactMatch ICD10CM:C81.2 Mixed cellularity Hodgkin lymphoma semapv:UnspecifiedMatching MONDO:0004633 Hodgkin's lymphoma, mixed cellularity skos:exactMatch MEDGEN:57521 semapv:UnspecifiedMatching MONDO:0004633 Hodgkin's lymphoma, mixed cellularity skos:exactMatch NCIT:C3517 Mixed Cellularity Classic Hodgkin Lymphoma semapv:UnspecifiedMatching MONDO:0004633 Hodgkin's lymphoma, mixed cellularity skos:exactMatch Orphanet:98844 Classic Hodgkin lymphoma, mixed cellularity type semapv:UnspecifiedMatching MONDO:0004633 Hodgkin's lymphoma, mixed cellularity skos:exactMatch SCTID:118609008 semapv:UnspecifiedMatching MONDO:0004633 Hodgkin's lymphoma, mixed cellularity skos:exactMatch UMLS:C0152266 semapv:UnspecifiedMatching MONDO:0004633 Hodgkin's lymphoma, mixed cellularity skos:exactMatch icd11.foundation:39515681 Mixed cellularity classical Hodgkin lymphoma semapv:UnspecifiedMatching MONDO:0004634 vein disorder skos:exactMatch DOID:866 vein disease semapv:UnspecifiedMatching MONDO:0004634 vein disorder skos:exactMatch MEDGEN:115992 semapv:UnspecifiedMatching MONDO:0004634 vein disorder skos:exactMatch NCIT:C35279 Vein Disorder semapv:UnspecifiedMatching MONDO:0004634 vein disorder skos:exactMatch SCTID:90507008 semapv:UnspecifiedMatching MONDO:0004634 vein disorder skos:exactMatch UMLS:C0235522 semapv:UnspecifiedMatching MONDO:0004635 postcricoid region cancer skos:exactMatch DOID:8660 postcricoid region cancer semapv:UnspecifiedMatching MONDO:0004635 postcricoid region cancer skos:exactMatch MEDGEN:141673 semapv:UnspecifiedMatching MONDO:0004635 postcricoid region cancer skos:exactMatch NCIT:C9323 Malignant Postcricoid Neoplasm semapv:UnspecifiedMatching MONDO:0004635 postcricoid region cancer skos:exactMatch SCTID:363400004 semapv:UnspecifiedMatching MONDO:0004635 postcricoid region cancer skos:exactMatch UMLS:C0496769 semapv:UnspecifiedMatching MONDO:0004636 lip carcinoma in situ skos:exactMatch DOID:8661 lip carcinoma in situ semapv:UnspecifiedMatching MONDO:0004636 lip carcinoma in situ skos:exactMatch MEDGEN:83849 semapv:UnspecifiedMatching MONDO:0004636 lip carcinoma in situ skos:exactMatch NCIT:C4588 Stage 0 Lip Cancer AJCC v6 and v7 semapv:UnspecifiedMatching MONDO:0004636 lip carcinoma in situ skos:exactMatch SCTID:92643000 semapv:UnspecifiedMatching MONDO:0004636 lip carcinoma in situ skos:exactMatch UMLS:C0347082 semapv:UnspecifiedMatching MONDO:0004636 lip carcinoma in situ skos:exactMatch icd11.foundation:1426750734 Carcinoma in situ of lip semapv:UnspecifiedMatching MONDO:0004637 aryepiglottic fold cancer skos:exactMatch DOID:8663 aryepiglottic fold cancer semapv:UnspecifiedMatching MONDO:0004637 aryepiglottic fold cancer skos:exactMatch ICD10CM:C13.1 Malignant neoplasm of aryepiglottic fold, hypopharyngeal aspect semapv:UnspecifiedMatching MONDO:0004637 aryepiglottic fold cancer skos:exactMatch MEDGEN:509278 semapv:UnspecifiedMatching MONDO:0004637 aryepiglottic fold cancer skos:exactMatch SCTID:187708004 semapv:UnspecifiedMatching MONDO:0004637 aryepiglottic fold cancer skos:exactMatch UMLS:C0153401 semapv:UnspecifiedMatching MONDO:0004638 lymphosarcoma skos:exactMatch MEDGEN:811370 semapv:UnspecifiedMatching MONDO:0004638 lymphosarcoma skos:exactMatch NCIT:C26919 Lymphosarcoma semapv:UnspecifiedMatching MONDO:0004638 lymphosarcoma skos:exactMatch SCTID:188498009 semapv:UnspecifiedMatching MONDO:0004638 lymphosarcoma skos:exactMatch UMLS:C3714542 semapv:UnspecifiedMatching MONDO:0004639 perinatal necrotizing enterocolitis skos:exactMatch DOID:8677 perinatal necrotizing enterocolitis semapv:UnspecifiedMatching MONDO:0004639 perinatal necrotizing enterocolitis skos:exactMatch MEDGEN:906305 semapv:UnspecifiedMatching MONDO:0004639 perinatal necrotizing enterocolitis skos:exactMatch SCTID:397729009 semapv:UnspecifiedMatching MONDO:0004639 perinatal necrotizing enterocolitis skos:exactMatch UMLS:C4082937 semapv:UnspecifiedMatching MONDO:0004640 alcoholic gastritis skos:exactMatch DOID:8680 alcoholic gastritis semapv:UnspecifiedMatching MONDO:0004640 alcoholic gastritis skos:exactMatch ICD10CM:K29.2 Alcoholic gastritis semapv:UnspecifiedMatching MONDO:0004640 alcoholic gastritis skos:exactMatch MEDGEN:102345 semapv:UnspecifiedMatching MONDO:0004640 alcoholic gastritis skos:exactMatch NCIT:C26977 Alcoholic Gastritis semapv:UnspecifiedMatching MONDO:0004640 alcoholic gastritis skos:exactMatch SCTID:2043009 semapv:UnspecifiedMatching MONDO:0004640 alcoholic gastritis skos:exactMatch UMLS:C0156076 semapv:UnspecifiedMatching MONDO:0004640 alcoholic gastritis skos:exactMatch icd11.foundation:1081291109 Alcoholic gastritis semapv:UnspecifiedMatching MONDO:0004641 skin carcinoma in situ skos:exactMatch DOID:8687 skin carcinoma in situ semapv:UnspecifiedMatching MONDO:0004641 skin carcinoma in situ skos:exactMatch ICD10CM:D04 Carcinoma in situ of skin semapv:UnspecifiedMatching MONDO:0004641 skin carcinoma in situ skos:exactMatch MEDGEN:102308 semapv:UnspecifiedMatching MONDO:0004641 skin carcinoma in situ skos:exactMatch NCIT:C3640 Stage 0 Skin Cancer semapv:UnspecifiedMatching MONDO:0004641 skin carcinoma in situ skos:exactMatch SCTID:92749008 semapv:UnspecifiedMatching MONDO:0004641 skin carcinoma in situ skos:exactMatch UMLS:C0154073 semapv:UnspecifiedMatching MONDO:0004642 tonsillar pillar cancer skos:exactMatch DOID:8688 tonsillar pillar cancer semapv:UnspecifiedMatching MONDO:0004642 tonsillar pillar cancer skos:exactMatch ICD10CM:C09.1 Malignant neoplasm of tonsillar pillar (anterior) (posterior) semapv:UnspecifiedMatching MONDO:0004642 tonsillar pillar cancer skos:exactMatch MEDGEN:509270 semapv:UnspecifiedMatching MONDO:0004642 tonsillar pillar cancer skos:exactMatch SCTID:187675005 semapv:UnspecifiedMatching MONDO:0004642 tonsillar pillar cancer skos:exactMatch UMLS:C0153385 semapv:UnspecifiedMatching MONDO:0004643 myeloid leukemia skos:exactMatch DOID:8692 myeloid leukemia semapv:UnspecifiedMatching MONDO:0004643 myeloid leukemia skos:exactMatch ICD10CM:C92 Myeloid leukemia semapv:UnspecifiedMatching MONDO:0004643 myeloid leukemia skos:exactMatch MEDGEN:7320 semapv:UnspecifiedMatching MONDO:0004643 myeloid leukemia skos:exactMatch NCIT:C3172 Myeloid Leukemia semapv:UnspecifiedMatching MONDO:0004643 myeloid leukemia skos:exactMatch SCTID:188732008 semapv:UnspecifiedMatching MONDO:0004643 myeloid leukemia skos:exactMatch UMLS:C0023470 semapv:UnspecifiedMatching MONDO:0004643 myeloid leukemia skos:exactMatch mesh:D007951 semapv:UnspecifiedMatching MONDO:0004644 subacute monocytic leukemia skos:exactMatch DOID:8696 subacute monocytic leukemia semapv:UnspecifiedMatching MONDO:0004644 subacute monocytic leukemia skos:exactMatch MEDGEN:508955 semapv:UnspecifiedMatching MONDO:0004644 subacute monocytic leukemia skos:exactMatch SCTID:188746008 semapv:UnspecifiedMatching MONDO:0004644 subacute monocytic leukemia skos:exactMatch UMLS:C0152275 semapv:UnspecifiedMatching MONDO:0004645 cheek mucosa cancer skos:exactMatch DOID:8702 cheek mucosa cancer semapv:UnspecifiedMatching MONDO:0004645 cheek mucosa cancer skos:exactMatch MEDGEN:57550 semapv:UnspecifiedMatching MONDO:0004645 cheek mucosa cancer skos:exactMatch NCIT:C9320 Malignant Buccal Mucosa Neoplasm semapv:UnspecifiedMatching MONDO:0004645 cheek mucosa cancer skos:exactMatch SCTID:363386008 semapv:UnspecifiedMatching MONDO:0004645 cheek mucosa cancer skos:exactMatch UMLS:C0153373 semapv:UnspecifiedMatching MONDO:0004646 decubitus ulcer skos:exactMatch DOID:8717 decubitus ulcer semapv:UnspecifiedMatching MONDO:0004646 decubitus ulcer skos:exactMatch ICD10CM:L89 Pressure ulcer semapv:UnspecifiedMatching MONDO:0004646 decubitus ulcer skos:exactMatch MEDGEN:1789997 semapv:UnspecifiedMatching MONDO:0004646 decubitus ulcer skos:exactMatch SCTID:399912005 semapv:UnspecifiedMatching MONDO:0004646 decubitus ulcer skos:exactMatch UMLS:C4554531 semapv:UnspecifiedMatching MONDO:0004646 decubitus ulcer skos:exactMatch mesh:D003668 semapv:UnspecifiedMatching MONDO:0004647 in situ carcinoma skos:exactMatch DOID:8719 in situ carcinoma semapv:UnspecifiedMatching MONDO:0004647 in situ carcinoma skos:exactMatch MEDGEN:763 semapv:UnspecifiedMatching MONDO:0004647 in situ carcinoma skos:exactMatch NCIT:C2917 Carcinoma In Situ semapv:UnspecifiedMatching MONDO:0004647 in situ carcinoma skos:exactMatch SCTID:109355002 semapv:UnspecifiedMatching MONDO:0004647 in situ carcinoma skos:exactMatch UMLS:C0007099 semapv:UnspecifiedMatching MONDO:0004647 in situ carcinoma skos:exactMatch mesh:D002278 semapv:UnspecifiedMatching MONDO:0004648 vascular dementia skos:exactMatch DOID:8725 vascular dementia semapv:UnspecifiedMatching MONDO:0004648 vascular dementia skos:exactMatch EFO:0004718 semapv:UnspecifiedMatching MONDO:0004648 vascular dementia skos:exactMatch ICD10CM:F01 Vascular dementia semapv:UnspecifiedMatching MONDO:0004648 vascular dementia skos:exactMatch ICD10CM:F01.5 Vascular dementia, unspecified severity semapv:UnspecifiedMatching MONDO:0004648 vascular dementia skos:exactMatch ICD10WHO:F01 Vascular dementia semapv:UnspecifiedMatching MONDO:0004648 vascular dementia skos:exactMatch MEDGEN:41447 semapv:UnspecifiedMatching MONDO:0004648 vascular dementia skos:exactMatch NCIT:C34525 Vascular Dementia semapv:UnspecifiedMatching MONDO:0004648 vascular dementia skos:exactMatch SCTID:429998004 semapv:UnspecifiedMatching MONDO:0004648 vascular dementia skos:exactMatch UMLS:C0011269 semapv:UnspecifiedMatching MONDO:0004648 vascular dementia skos:exactMatch icd11.foundation:1365258270 Dementia due to cerebrovascular disease semapv:UnspecifiedMatching MONDO:0004648 vascular dementia skos:exactMatch mesh:D015140 semapv:UnspecifiedMatching MONDO:0004649 anaerobic pneumonia skos:exactMatch DOID:873 anaerobic pneumonia semapv:UnspecifiedMatching MONDO:0004649 anaerobic pneumonia skos:exactMatch MEDGEN:731236 semapv:UnspecifiedMatching MONDO:0004649 anaerobic pneumonia skos:exactMatch SCTID:409664000 semapv:UnspecifiedMatching MONDO:0004649 anaerobic pneumonia skos:exactMatch UMLS:C1443976 semapv:UnspecifiedMatching MONDO:0004650 malignant carotid body paraganglioma skos:exactMatch DOID:8731 carotid body cancer semapv:UnspecifiedMatching MONDO:0004650 malignant carotid body paraganglioma skos:exactMatch ICD10CM:C75.4 Malignant neoplasm of carotid body semapv:UnspecifiedMatching MONDO:0004650 malignant carotid body paraganglioma skos:exactMatch MEDGEN:56318 semapv:UnspecifiedMatching MONDO:0004650 malignant carotid body paraganglioma skos:exactMatch NCIT:C3574 Metastatic Carotid Body Paraganglioma semapv:UnspecifiedMatching MONDO:0004650 malignant carotid body paraganglioma skos:exactMatch SCTID:447883002 semapv:UnspecifiedMatching MONDO:0004650 malignant carotid body paraganglioma skos:exactMatch UMLS:C0153656 semapv:UnspecifiedMatching MONDO:0004651 smallpox skos:exactMatch DOID:8736 smallpox semapv:UnspecifiedMatching MONDO:0004651 smallpox skos:exactMatch ICD10CM:B03 Smallpox semapv:UnspecifiedMatching MONDO:0004651 smallpox skos:exactMatch ICD10WHO:B03 Smallpox semapv:UnspecifiedMatching MONDO:0004651 smallpox skos:exactMatch MEDGEN:20785 semapv:UnspecifiedMatching MONDO:0004651 smallpox skos:exactMatch NCIT:C35027 Smallpox semapv:UnspecifiedMatching MONDO:0004651 smallpox skos:exactMatch SCTID:67924001 semapv:UnspecifiedMatching MONDO:0004651 smallpox skos:exactMatch UMLS:C0037354 semapv:UnspecifiedMatching MONDO:0004651 smallpox skos:exactMatch icd11.foundation:2054716425 Smallpox semapv:UnspecifiedMatching MONDO:0004651 smallpox skos:exactMatch mesh:D012899 semapv:UnspecifiedMatching MONDO:0004652 bacterial pneumonia skos:exactMatch DOID:874 bacterial pneumonia semapv:UnspecifiedMatching MONDO:0004652 bacterial pneumonia skos:exactMatch EFO:1001272 semapv:UnspecifiedMatching MONDO:0004652 bacterial pneumonia skos:exactMatch MEDGEN:484 semapv:UnspecifiedMatching MONDO:0004652 bacterial pneumonia skos:exactMatch NCIT:C26704 Bacterial Pneumonia semapv:UnspecifiedMatching MONDO:0004652 bacterial pneumonia skos:exactMatch SCTID:53084003 semapv:UnspecifiedMatching MONDO:0004652 bacterial pneumonia skos:exactMatch UMLS:C0004626 semapv:UnspecifiedMatching MONDO:0004652 bacterial pneumonia skos:exactMatch icd11.foundation:1323682030 Bacterial pneumonia semapv:UnspecifiedMatching MONDO:0004652 bacterial pneumonia skos:exactMatch mesh:D018410 semapv:UnspecifiedMatching MONDO:0004653 atypical chronic myeloid leukemia, BCR-ABL1 negative skos:exactMatch DOID:0060597 atypical chronic myeloid leukemia, BCR-ABL1 negative semapv:UnspecifiedMatching MONDO:0004653 atypical chronic myeloid leukemia, BCR-ABL1 negative skos:exactMatch MEDGEN:266233 semapv:UnspecifiedMatching MONDO:0004653 atypical chronic myeloid leukemia, BCR-ABL1 negative skos:exactMatch NCIT:C3519 Atypical Chronic Myeloid Leukemia semapv:UnspecifiedMatching MONDO:0004653 atypical chronic myeloid leukemia, BCR-ABL1 negative skos:exactMatch Orphanet:98824 Atypical chronic myeloid leukemia semapv:UnspecifiedMatching MONDO:0004653 atypical chronic myeloid leukemia, BCR-ABL1 negative skos:exactMatch SCTID:277589003 semapv:UnspecifiedMatching MONDO:0004653 atypical chronic myeloid leukemia, BCR-ABL1 negative skos:exactMatch UMLS:C1292772 semapv:UnspecifiedMatching MONDO:0004653 atypical chronic myeloid leukemia, BCR-ABL1 negative skos:exactMatch icd11.foundation:331838766 Atypical chronic myeloid leukaemia, BCR-ABL1-negative semapv:UnspecifiedMatching MONDO:0004656 rubella skos:exactMatch DOID:8781 rubella semapv:UnspecifiedMatching MONDO:0004656 rubella skos:exactMatch EFO:1002026 semapv:UnspecifiedMatching MONDO:0004656 rubella skos:exactMatch ICD10CM:B06 Rubella [German measles] semapv:UnspecifiedMatching MONDO:0004656 rubella skos:exactMatch MEDGEN:48514 semapv:UnspecifiedMatching MONDO:0004656 rubella skos:exactMatch NCIT:C85051 Rubella Infection semapv:UnspecifiedMatching MONDO:0004656 rubella skos:exactMatch SCTID:36653000 semapv:UnspecifiedMatching MONDO:0004656 rubella skos:exactMatch UMLS:C0035920 semapv:UnspecifiedMatching MONDO:0004656 rubella skos:exactMatch icd11.foundation:410022648 Rubella semapv:UnspecifiedMatching MONDO:0004656 rubella skos:exactMatch mesh:D012409 semapv:UnspecifiedMatching MONDO:0004657 disseminated chorioretinitis skos:exactMatch DOID:8787 disseminated chorioretinitis semapv:UnspecifiedMatching MONDO:0004657 disseminated chorioretinitis skos:exactMatch ICD10CM:H30.1 Disseminated chorioretinal inflammation semapv:UnspecifiedMatching MONDO:0004657 disseminated chorioretinitis skos:exactMatch MEDGEN:509696 semapv:UnspecifiedMatching MONDO:0004657 disseminated chorioretinitis skos:exactMatch SCTID:78769001 semapv:UnspecifiedMatching MONDO:0004657 disseminated chorioretinitis skos:exactMatch UMLS:C0154879 semapv:UnspecifiedMatching MONDO:0004658 breast carcinoma in situ skos:exactMatch DOID:8791 breast carcinoma in situ semapv:UnspecifiedMatching MONDO:0004658 breast carcinoma in situ skos:exactMatch ICD10CM:D05 Carcinoma in situ of breast semapv:UnspecifiedMatching MONDO:0004658 breast carcinoma in situ skos:exactMatch MEDGEN:57817 semapv:UnspecifiedMatching MONDO:0004658 breast carcinoma in situ skos:exactMatch NCIT:C3641 Stage 0 Breast Cancer AJCC v6 and v7 semapv:UnspecifiedMatching MONDO:0004658 breast carcinoma in situ skos:exactMatch SCTID:189336000 semapv:UnspecifiedMatching MONDO:0004658 breast carcinoma in situ skos:exactMatch UMLS:C0154084 semapv:UnspecifiedMatching MONDO:0004658 breast carcinoma in situ skos:exactMatch icd11.foundation:1264360394 Carcinoma in situ of breast semapv:UnspecifiedMatching MONDO:0004658 breast carcinoma in situ skos:exactMatch mesh:D000071960 semapv:UnspecifiedMatching MONDO:0004659 eye carcinoma in situ skos:exactMatch DOID:8792 eye carcinoma in situ semapv:UnspecifiedMatching MONDO:0004659 eye carcinoma in situ skos:exactMatch ICD10CM:D09.2 Carcinoma in situ of eye semapv:UnspecifiedMatching MONDO:0004659 eye carcinoma in situ skos:exactMatch MEDGEN:509519 semapv:UnspecifiedMatching MONDO:0004659 eye carcinoma in situ skos:exactMatch SCTID:92590009 semapv:UnspecifiedMatching MONDO:0004659 eye carcinoma in situ skos:exactMatch UMLS:C0154094 semapv:UnspecifiedMatching MONDO:0004660 lung carcinoma in situ skos:exactMatch DOID:8800 lung carcinoma in situ semapv:UnspecifiedMatching MONDO:0004660 lung carcinoma in situ skos:exactMatch MEDGEN:146894 semapv:UnspecifiedMatching MONDO:0004660 lung carcinoma in situ skos:exactMatch NCIT:C27467 Stage 0 Lung Cancer AJCC v6 and v7 semapv:UnspecifiedMatching MONDO:0004660 lung carcinoma in situ skos:exactMatch SCTID:92649001 semapv:UnspecifiedMatching MONDO:0004660 lung carcinoma in situ skos:exactMatch UMLS:C0685053 semapv:UnspecifiedMatching MONDO:0004661 trachea carcinoma in situ skos:exactMatch DOID:8802 trachea carcinoma in situ semapv:UnspecifiedMatching MONDO:0004661 trachea carcinoma in situ skos:exactMatch ICD10CM:D02.1 Carcinoma in situ of trachea semapv:UnspecifiedMatching MONDO:0004661 trachea carcinoma in situ skos:exactMatch MEDGEN:57816 semapv:UnspecifiedMatching MONDO:0004661 trachea carcinoma in situ skos:exactMatch NCIT:C3639 Tracheal Carcinoma In Situ semapv:UnspecifiedMatching MONDO:0004661 trachea carcinoma in situ skos:exactMatch SCTID:92772005 semapv:UnspecifiedMatching MONDO:0004661 trachea carcinoma in situ skos:exactMatch UMLS:C0154070 semapv:UnspecifiedMatching MONDO:0004662 heterophyiasis skos:exactMatch DOID:882 heterophyiasis semapv:UnspecifiedMatching MONDO:0004662 heterophyiasis skos:exactMatch MEDGEN:508869 semapv:UnspecifiedMatching MONDO:0004662 heterophyiasis skos:exactMatch NCIT:C128389 Heterophyiasis semapv:UnspecifiedMatching MONDO:0004662 heterophyiasis skos:exactMatch SCTID:22905009 semapv:UnspecifiedMatching MONDO:0004662 heterophyiasis skos:exactMatch UMLS:C0152071 semapv:UnspecifiedMatching MONDO:0004662 heterophyiasis skos:exactMatch icd11.foundation:322536023 Heterophyiasis semapv:UnspecifiedMatching MONDO:0004663 colon carcinoma in situ skos:exactMatch DOID:8826 colon carcinoma in situ semapv:UnspecifiedMatching MONDO:0004663 colon carcinoma in situ skos:exactMatch ICD10CM:D01.0 Carcinoma in situ of colon semapv:UnspecifiedMatching MONDO:0004663 colon carcinoma in situ skos:exactMatch MEDGEN:56334 semapv:UnspecifiedMatching MONDO:0004663 colon carcinoma in situ skos:exactMatch NCIT:C3638 Stage 0 Colon Cancer AJCC v6 and v7 semapv:UnspecifiedMatching MONDO:0004663 colon carcinoma in situ skos:exactMatch SCTID:92568009 semapv:UnspecifiedMatching MONDO:0004663 colon carcinoma in situ skos:exactMatch UMLS:C0154061 semapv:UnspecifiedMatching MONDO:0004663 colon carcinoma in situ skos:exactMatch icd11.foundation:1958429829 Carcinoma in situ of colon semapv:UnspecifiedMatching MONDO:0004664 helminthiasis skos:exactMatch DOID:883 parasitic helminthiasis infectious disease semapv:UnspecifiedMatching MONDO:0004664 helminthiasis skos:exactMatch EFO:1001342 semapv:UnspecifiedMatching MONDO:0004664 helminthiasis skos:exactMatch ICD10CM:B65-B83 Helminthiases (B65-B83) semapv:UnspecifiedMatching MONDO:0004664 helminthiasis skos:exactMatch MEDGEN:6765 semapv:UnspecifiedMatching MONDO:0004664 helminthiasis skos:exactMatch NCIT:C84751 Helminthiasis semapv:UnspecifiedMatching MONDO:0004664 helminthiasis skos:exactMatch SCTID:27601005 semapv:UnspecifiedMatching MONDO:0004664 helminthiasis skos:exactMatch UMLS:C0018889 semapv:UnspecifiedMatching MONDO:0004664 helminthiasis skos:exactMatch mesh:D006373 semapv:UnspecifiedMatching MONDO:0004665 nodular sclerosis classical Hodgkin lymphoma skos:exactMatch DOID:8838 Hodgkin's lymphoma, nodular sclerosis semapv:UnspecifiedMatching MONDO:0004665 nodular sclerosis classical Hodgkin lymphoma skos:exactMatch EFO:0004708 semapv:UnspecifiedMatching MONDO:0004665 nodular sclerosis classical Hodgkin lymphoma skos:exactMatch ICD10CM:C81.1 Nodular sclerosis Hodgkin lymphoma semapv:UnspecifiedMatching MONDO:0004665 nodular sclerosis classical Hodgkin lymphoma skos:exactMatch MEDGEN:101830 semapv:UnspecifiedMatching MONDO:0004665 nodular sclerosis classical Hodgkin lymphoma skos:exactMatch NCIT:C3518 Nodular Sclerosis Classic Hodgkin Lymphoma semapv:UnspecifiedMatching MONDO:0004665 nodular sclerosis classical Hodgkin lymphoma skos:exactMatch Orphanet:98843 Classic Hodgkin lymphoma, nodular sclerosis type semapv:UnspecifiedMatching MONDO:0004665 nodular sclerosis classical Hodgkin lymphoma skos:exactMatch SCTID:118608000 semapv:UnspecifiedMatching MONDO:0004665 nodular sclerosis classical Hodgkin lymphoma skos:exactMatch UMLS:C0152268 semapv:UnspecifiedMatching MONDO:0004665 nodular sclerosis classical Hodgkin lymphoma skos:exactMatch icd11.foundation:1995941600 Nodular sclerosis classical Hodgkin lymphoma semapv:UnspecifiedMatching MONDO:0004666 metagonimiasis skos:exactMatch DOID:884 metagonimiasis semapv:UnspecifiedMatching MONDO:0004666 metagonimiasis skos:exactMatch MEDGEN:7564 semapv:UnspecifiedMatching MONDO:0004666 metagonimiasis skos:exactMatch NCIT:C128390 Metagonimiasis semapv:UnspecifiedMatching MONDO:0004666 metagonimiasis skos:exactMatch SCTID:37832003 semapv:UnspecifiedMatching MONDO:0004666 metagonimiasis skos:exactMatch UMLS:C0025530 semapv:UnspecifiedMatching MONDO:0004666 metagonimiasis skos:exactMatch icd11.foundation:844727447 Metagonimiasis semapv:UnspecifiedMatching MONDO:0004667 sublingual gland cancer skos:exactMatch DOID:8849 sublingual gland cancer semapv:UnspecifiedMatching MONDO:0004667 sublingual gland cancer skos:exactMatch ICD10CM:C08.1 Malignant neoplasm of sublingual gland semapv:UnspecifiedMatching MONDO:0004667 sublingual gland cancer skos:exactMatch MEDGEN:102263 semapv:UnspecifiedMatching MONDO:0004667 sublingual gland cancer skos:exactMatch NCIT:C3527 Malignant Sublingual Gland Neoplasm semapv:UnspecifiedMatching MONDO:0004667 sublingual gland cancer skos:exactMatch SCTID:363381003 semapv:UnspecifiedMatching MONDO:0004667 sublingual gland cancer skos:exactMatch UMLS:C0153361 semapv:UnspecifiedMatching MONDO:0004668 fascioliasis skos:exactMatch DOID:885 fascioliasis semapv:UnspecifiedMatching MONDO:0004668 fascioliasis skos:exactMatch EFO:1001324 semapv:UnspecifiedMatching MONDO:0004668 fascioliasis skos:exactMatch ICD10CM:B66.3 Fascioliasis semapv:UnspecifiedMatching MONDO:0004668 fascioliasis skos:exactMatch MEDGEN:41969 semapv:UnspecifiedMatching MONDO:0004668 fascioliasis skos:exactMatch NCIT:C128387 Fasciolosis semapv:UnspecifiedMatching MONDO:0004668 fascioliasis skos:exactMatch SCTID:82308007 semapv:UnspecifiedMatching MONDO:0004668 fascioliasis skos:exactMatch UMLS:C0015652 semapv:UnspecifiedMatching MONDO:0004668 fascioliasis skos:exactMatch icd11.foundation:656408831 Fascioliasis semapv:UnspecifiedMatching MONDO:0004668 fascioliasis skos:exactMatch mesh:D005211 semapv:UnspecifiedMatching MONDO:0004669 salivary gland cancer skos:exactMatch DOID:8850 salivary gland cancer semapv:UnspecifiedMatching MONDO:0004669 salivary gland cancer skos:exactMatch ICD10CM:C08 Malignant neoplasm of other and unspecified major salivary glands semapv:UnspecifiedMatching MONDO:0004669 salivary gland cancer skos:exactMatch MEDGEN:65079 semapv:UnspecifiedMatching MONDO:0004669 salivary gland cancer skos:exactMatch NCIT:C3811 Malignant Salivary Gland Neoplasm semapv:UnspecifiedMatching MONDO:0004669 salivary gland cancer skos:exactMatch SCTID:255072001 semapv:UnspecifiedMatching MONDO:0004669 salivary gland cancer skos:exactMatch UMLS:C0220636 semapv:UnspecifiedMatching MONDO:0004669 salivary gland cancer skos:exactMatch mesh:D012468 semapv:UnspecifiedMatching MONDO:0004670 lupus erythematosus skos:exactMatch DOID:8857 lupus erythematosus semapv:UnspecifiedMatching MONDO:0004670 lupus erythematosus skos:exactMatch ICD10CM:L93 Lupus erythematosus semapv:UnspecifiedMatching MONDO:0004670 lupus erythematosus skos:exactMatch ICD10WHO:L93 Lupus erythematosus semapv:UnspecifiedMatching MONDO:0004670 lupus erythematosus skos:exactMatch MEDGEN:98043 semapv:UnspecifiedMatching MONDO:0004670 lupus erythematosus skos:exactMatch NCIT:C27153 Lupus Erythematosus semapv:UnspecifiedMatching MONDO:0004670 lupus erythematosus skos:exactMatch SCTID:200936003 semapv:UnspecifiedMatching MONDO:0004670 lupus erythematosus skos:exactMatch UMLS:C0409974 semapv:UnspecifiedMatching MONDO:0004670 lupus erythematosus skos:exactMatch icd11.foundation:1443317238 Lupus erythematosus semapv:UnspecifiedMatching MONDO:0004671 penis carcinoma in situ skos:exactMatch DOID:8872 penis carcinoma in situ semapv:UnspecifiedMatching MONDO:0004671 penis carcinoma in situ skos:exactMatch ICD10CM:D07.4 Carcinoma in situ of penis semapv:UnspecifiedMatching MONDO:0004671 penis carcinoma in situ skos:exactMatch MEDGEN:102309 semapv:UnspecifiedMatching MONDO:0004671 penis carcinoma in situ skos:exactMatch NCIT:C27790 Penile Carcinoma In Situ semapv:UnspecifiedMatching MONDO:0004671 penis carcinoma in situ skos:exactMatch SCTID:398831006 semapv:UnspecifiedMatching MONDO:0004671 penis carcinoma in situ skos:exactMatch UMLS:C0154089 semapv:UnspecifiedMatching MONDO:0004672 fasciolopsiasis skos:exactMatch DOID:888 fasciolopsiasis semapv:UnspecifiedMatching MONDO:0004672 fasciolopsiasis skos:exactMatch ICD10CM:B66.5 Fasciolopsiasis semapv:UnspecifiedMatching MONDO:0004672 fasciolopsiasis skos:exactMatch MEDGEN:5125 semapv:UnspecifiedMatching MONDO:0004672 fasciolopsiasis skos:exactMatch NCIT:C128388 Fasciolopsiasis semapv:UnspecifiedMatching MONDO:0004672 fasciolopsiasis skos:exactMatch Orphanet:658909 Fasciolopsiasis semapv:UnspecifiedMatching MONDO:0004672 fasciolopsiasis skos:exactMatch SCTID:54266002 semapv:UnspecifiedMatching MONDO:0004672 fasciolopsiasis skos:exactMatch UMLS:C0015656 semapv:UnspecifiedMatching MONDO:0004672 fasciolopsiasis skos:exactMatch icd11.foundation:830824191 Fasciolopsiasis semapv:UnspecifiedMatching MONDO:0004673 lower lip cancer skos:exactMatch DOID:8883 lower lip cancer semapv:UnspecifiedMatching MONDO:0004673 lower lip cancer skos:exactMatch MEDGEN:609573 semapv:UnspecifiedMatching MONDO:0004673 lower lip cancer skos:exactMatch SCTID:363373004 semapv:UnspecifiedMatching MONDO:0004673 lower lip cancer skos:exactMatch UMLS:C0432520 semapv:UnspecifiedMatching MONDO:0004674 chorioretinitis skos:exactMatch DOID:8886 chorioretinitis semapv:UnspecifiedMatching MONDO:0004674 chorioretinitis skos:exactMatch MEDGEN:942 semapv:UnspecifiedMatching MONDO:0004674 chorioretinitis skos:exactMatch NCIT:C110923 Chorioretinitis semapv:UnspecifiedMatching MONDO:0004674 chorioretinitis skos:exactMatch SCTID:46627006 semapv:UnspecifiedMatching MONDO:0004674 chorioretinitis skos:exactMatch UMLS:C0008513 semapv:UnspecifiedMatching MONDO:0004674 chorioretinitis skos:exactMatch mesh:D002825 semapv:UnspecifiedMatching MONDO:0004675 mitochondrial encephalomyopathy skos:exactMatch DOID:890 mitochondrial encephalomyopathy semapv:UnspecifiedMatching MONDO:0004675 mitochondrial encephalomyopathy skos:exactMatch MEDGEN:57960 semapv:UnspecifiedMatching MONDO:0004675 mitochondrial encephalomyopathy skos:exactMatch SCTID:447292006 semapv:UnspecifiedMatching MONDO:0004675 mitochondrial encephalomyopathy skos:exactMatch UMLS:C0162666 semapv:UnspecifiedMatching MONDO:0004675 mitochondrial encephalomyopathy skos:exactMatch mesh:D017237 semapv:UnspecifiedMatching MONDO:0004677 tinea nigra skos:exactMatch DOID:8912 tinea nigra semapv:UnspecifiedMatching MONDO:0004677 tinea nigra skos:exactMatch ICD10CM:B36.1 Tinea nigra semapv:UnspecifiedMatching MONDO:0004677 tinea nigra skos:exactMatch MEDGEN:508865 semapv:UnspecifiedMatching MONDO:0004677 tinea nigra skos:exactMatch SCTID:183342005 semapv:UnspecifiedMatching MONDO:0004677 tinea nigra skos:exactMatch UMLS:C0152067 semapv:UnspecifiedMatching MONDO:0004677 tinea nigra skos:exactMatch icd11.foundation:1723085409 Tinea nigra semapv:UnspecifiedMatching MONDO:0004678 dermatophytosis skos:exactMatch DOID:8913 dermatophytosis semapv:UnspecifiedMatching MONDO:0004678 dermatophytosis skos:exactMatch ICD10CM:B35 Dermatophytosis semapv:UnspecifiedMatching MONDO:0004678 dermatophytosis skos:exactMatch ICD10WHO:B35 Dermatophytosis semapv:UnspecifiedMatching MONDO:0004678 dermatophytosis skos:exactMatch MEDGEN:3768 semapv:UnspecifiedMatching MONDO:0004678 dermatophytosis skos:exactMatch NCIT:C26745 Dermatophytosis semapv:UnspecifiedMatching MONDO:0004678 dermatophytosis skos:exactMatch SCTID:47382004 semapv:UnspecifiedMatching MONDO:0004678 dermatophytosis skos:exactMatch UMLS:C0011636 semapv:UnspecifiedMatching MONDO:0004678 dermatophytosis skos:exactMatch icd11.foundation:1802307036 Dermatophytosis semapv:UnspecifiedMatching MONDO:0004679 leukoplakia of vagina skos:exactMatch DOID:8920 leukoplakia of vagina semapv:UnspecifiedMatching MONDO:0004679 leukoplakia of vagina skos:exactMatch ICD10CM:N89.4 Leukoplakia of vagina semapv:UnspecifiedMatching MONDO:0004679 leukoplakia of vagina skos:exactMatch MEDGEN:102351 semapv:UnspecifiedMatching MONDO:0004679 leukoplakia of vagina skos:exactMatch NCIT:C3663 Vaginal Leukoplakia semapv:UnspecifiedMatching MONDO:0004679 leukoplakia of vagina skos:exactMatch SCTID:111420009 semapv:UnspecifiedMatching MONDO:0004679 leukoplakia of vagina skos:exactMatch UMLS:C0156385 semapv:UnspecifiedMatching MONDO:0004679 leukoplakia of vagina skos:exactMatch icd11.foundation:644756612 Leukoplakia of vagina semapv:UnspecifiedMatching MONDO:0004680 primary thrombocytopenia skos:exactMatch DOID:8925 primary thrombocytopenia semapv:UnspecifiedMatching MONDO:0004680 primary thrombocytopenia skos:exactMatch MEDGEN:675208 semapv:UnspecifiedMatching MONDO:0004680 primary thrombocytopenia skos:exactMatch SCTID:267534000 semapv:UnspecifiedMatching MONDO:0004680 primary thrombocytopenia skos:exactMatch UMLS:C0701157 semapv:UnspecifiedMatching MONDO:0004681 learning disability skos:exactMatch DOID:8927 learning disability semapv:UnspecifiedMatching MONDO:0004681 learning disability skos:exactMatch MEDGEN:199623 semapv:UnspecifiedMatching MONDO:0004681 learning disability skos:exactMatch NCIT:C89334 Learning Disorder semapv:UnspecifiedMatching MONDO:0004681 learning disability skos:exactMatch SCTID:1855002 semapv:UnspecifiedMatching MONDO:0004681 learning disability skos:exactMatch UMLS:C0751265 semapv:UnspecifiedMatching MONDO:0004681 learning disability skos:exactMatch mesh:D007859 semapv:UnspecifiedMatching MONDO:0004682 retromolar area cancer skos:exactMatch DOID:8930 retromolar area cancer semapv:UnspecifiedMatching MONDO:0004682 retromolar area cancer skos:exactMatch ICD10CM:C06.2 Malignant neoplasm of retromolar area semapv:UnspecifiedMatching MONDO:0004682 retromolar area cancer skos:exactMatch MEDGEN:509268 semapv:UnspecifiedMatching MONDO:0004682 retromolar area cancer skos:exactMatch SCTID:363391009 semapv:UnspecifiedMatching MONDO:0004682 retromolar area cancer skos:exactMatch UMLS:C0153379 semapv:UnspecifiedMatching MONDO:0004684 plantar fibromatosis skos:exactMatch DOID:8936 plantar fascial fibromatosis semapv:UnspecifiedMatching MONDO:0004684 plantar fibromatosis skos:exactMatch EFO:1000481 semapv:UnspecifiedMatching MONDO:0004684 plantar fibromatosis skos:exactMatch MEDGEN:56385 semapv:UnspecifiedMatching MONDO:0004684 plantar fibromatosis skos:exactMatch NCIT:C4680 Plantar Fibromatosis semapv:UnspecifiedMatching MONDO:0004684 plantar fibromatosis skos:exactMatch Orphanet:199251 Ledderhose disease semapv:UnspecifiedMatching MONDO:0004684 plantar fibromatosis skos:exactMatch SCTID:13370002 semapv:UnspecifiedMatching MONDO:0004684 plantar fibromatosis skos:exactMatch UMLS:C0158360 semapv:UnspecifiedMatching MONDO:0004684 plantar fibromatosis skos:exactMatch icd11.foundation:409482033 Plantar fascial fibromatosis semapv:UnspecifiedMatching MONDO:0004684 plantar fibromatosis skos:exactMatch mesh:C537000 semapv:UnspecifiedMatching MONDO:0004685 Waldeyer's ring cancer skos:exactMatch DOID:8937 Waldeyer's ring cancer semapv:UnspecifiedMatching MONDO:0004685 Waldeyer's ring cancer skos:exactMatch ICD10CM:C14.2 Malignant neoplasm of Waldeyer's ring semapv:UnspecifiedMatching MONDO:0004685 Waldeyer's ring cancer skos:exactMatch MEDGEN:509279 semapv:UnspecifiedMatching MONDO:0004685 Waldeyer's ring cancer skos:exactMatch NCIT:C194063 Malignant Neoplasm of Waldeyer's Ring semapv:UnspecifiedMatching MONDO:0004685 Waldeyer's ring cancer skos:exactMatch SCTID:187716008 semapv:UnspecifiedMatching MONDO:0004685 Waldeyer's ring cancer skos:exactMatch UMLS:C0153406 semapv:UnspecifiedMatching MONDO:0004686 lattice corneal dystrophy skos:exactMatch DOID:8943 lattice corneal dystrophy semapv:UnspecifiedMatching MONDO:0004686 lattice corneal dystrophy skos:exactMatch ICD10CM:H18.54 Lattice corneal dystrophy semapv:UnspecifiedMatching MONDO:0004686 lattice corneal dystrophy skos:exactMatch MEDGEN:56355 semapv:UnspecifiedMatching MONDO:0004686 lattice corneal dystrophy skos:exactMatch SCTID:1192004 semapv:UnspecifiedMatching MONDO:0004686 lattice corneal dystrophy skos:exactMatch UMLS:C0155127 semapv:UnspecifiedMatching MONDO:0004686 lattice corneal dystrophy skos:exactMatch icd11.foundation:1247885635 Lattice corneal dystrophy semapv:UnspecifiedMatching MONDO:0004687 severe nonproliferative diabetic retinopathy skos:exactMatch DOID:8946 severe nonproliferative diabetic retinopathy semapv:UnspecifiedMatching MONDO:0004687 severe nonproliferative diabetic retinopathy skos:exactMatch MEDGEN:676487 semapv:UnspecifiedMatching MONDO:0004687 severe nonproliferative diabetic retinopathy skos:exactMatch SCTID:312905005 semapv:UnspecifiedMatching MONDO:0004687 severe nonproliferative diabetic retinopathy skos:exactMatch UMLS:C0730278 semapv:UnspecifiedMatching MONDO:0004687 severe nonproliferative diabetic retinopathy skos:exactMatch icd11.foundation:561966379 Severe nonproliferative diabetic retinopathy semapv:UnspecifiedMatching MONDO:0004689 inborn metal metabolism disorder skos:exactMatch DOID:896 metal metabolism disorder semapv:UnspecifiedMatching MONDO:0004689 inborn metal metabolism disorder skos:exactMatch MEDGEN:6325 semapv:UnspecifiedMatching MONDO:0004689 inborn metal metabolism disorder skos:exactMatch UMLS:C0025534 semapv:UnspecifiedMatching MONDO:0004689 inborn metal metabolism disorder skos:exactMatch mesh:D008664 semapv:UnspecifiedMatching MONDO:0004690 tonsillar fossa cancer skos:exactMatch DOID:8969 tonsillar fossa cancer semapv:UnspecifiedMatching MONDO:0004690 tonsillar fossa cancer skos:exactMatch ICD10CM:C09.0 Malignant neoplasm of tonsillar fossa semapv:UnspecifiedMatching MONDO:0004690 tonsillar fossa cancer skos:exactMatch MEDGEN:509269 semapv:UnspecifiedMatching MONDO:0004690 tonsillar fossa cancer skos:exactMatch SCTID:363394001 semapv:UnspecifiedMatching MONDO:0004690 tonsillar fossa cancer skos:exactMatch UMLS:C0153384 semapv:UnspecifiedMatching MONDO:0004691 autosomal dominant polycystic kidney disease skos:exactMatch DOID:898 autosomal dominant polycystic kidney disease semapv:UnspecifiedMatching MONDO:0004691 autosomal dominant polycystic kidney disease skos:exactMatch EFO:1001496 semapv:UnspecifiedMatching MONDO:0004691 autosomal dominant polycystic kidney disease skos:exactMatch MEDGEN:88404 semapv:UnspecifiedMatching MONDO:0004691 autosomal dominant polycystic kidney disease skos:exactMatch NCIT:C84578 Autosomal Dominant Polycystic Kidney Disease semapv:UnspecifiedMatching MONDO:0004691 autosomal dominant polycystic kidney disease skos:exactMatch Orphanet:730 Autosomal dominant polycystic kidney disease semapv:UnspecifiedMatching MONDO:0004691 autosomal dominant polycystic kidney disease skos:exactMatch SCTID:765330003 semapv:UnspecifiedMatching MONDO:0004691 autosomal dominant polycystic kidney disease skos:exactMatch UMLS:C0085413 semapv:UnspecifiedMatching MONDO:0004691 autosomal dominant polycystic kidney disease skos:exactMatch icd11.foundation:91220434 Autosomal dominant polycystic kidney disease semapv:UnspecifiedMatching MONDO:0004691 autosomal dominant polycystic kidney disease skos:exactMatch mesh:D016891 semapv:UnspecifiedMatching MONDO:0004693 squamous carcinoma in situ skos:exactMatch MEDGEN:83116 semapv:UnspecifiedMatching MONDO:0004693 squamous carcinoma in situ skos:exactMatch NCIT:C27093 Stage 0 Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0004693 squamous carcinoma in situ skos:exactMatch UMLS:C0334245 semapv:UnspecifiedMatching MONDO:0004694 hepatopulmonary syndrome skos:exactMatch DOID:900 hepatopulmonary syndrome semapv:UnspecifiedMatching MONDO:0004694 hepatopulmonary syndrome skos:exactMatch EFO:1001346 semapv:UnspecifiedMatching MONDO:0004694 hepatopulmonary syndrome skos:exactMatch ICD10CM:K76.81 Hepatopulmonary syndrome semapv:UnspecifiedMatching MONDO:0004694 hepatopulmonary syndrome skos:exactMatch MEDGEN:109071 semapv:UnspecifiedMatching MONDO:0004694 hepatopulmonary syndrome skos:exactMatch SCTID:371067004 semapv:UnspecifiedMatching MONDO:0004694 hepatopulmonary syndrome skos:exactMatch UMLS:C0600452 semapv:UnspecifiedMatching MONDO:0004694 hepatopulmonary syndrome skos:exactMatch icd11.foundation:866605228 Hepatopulmonary syndrome semapv:UnspecifiedMatching MONDO:0004694 hepatopulmonary syndrome skos:exactMatch mesh:D020065 semapv:UnspecifiedMatching MONDO:0004695 liver lymphoma skos:exactMatch DOID:901 liver lymphoma semapv:UnspecifiedMatching MONDO:0004695 liver lymphoma skos:exactMatch MEDGEN:207276 semapv:UnspecifiedMatching MONDO:0004695 liver lymphoma skos:exactMatch NCIT:C4949 Liver Lymphoma semapv:UnspecifiedMatching MONDO:0004695 liver lymphoma skos:exactMatch UMLS:C1112746 semapv:UnspecifiedMatching MONDO:0004696 larynx carcinoma in situ skos:exactMatch DOID:9011 larynx carcinoma in situ semapv:UnspecifiedMatching MONDO:0004696 larynx carcinoma in situ skos:exactMatch ICD10CM:D02.0 Carcinoma in situ of larynx semapv:UnspecifiedMatching MONDO:0004696 larynx carcinoma in situ skos:exactMatch MEDGEN:56336 semapv:UnspecifiedMatching MONDO:0004696 larynx carcinoma in situ skos:exactMatch NCIT:C9100 Stage 0 Laryngeal Cancer AJCC v6, v7, and V8 semapv:UnspecifiedMatching MONDO:0004696 larynx carcinoma in situ skos:exactMatch SCTID:92634009 semapv:UnspecifiedMatching MONDO:0004696 larynx carcinoma in situ skos:exactMatch UMLS:C0154069 semapv:UnspecifiedMatching MONDO:0004697 esophageal leukoplakia skos:exactMatch DOID:9021 esophageal leukoplakia semapv:UnspecifiedMatching MONDO:0004697 esophageal leukoplakia skos:exactMatch MEDGEN:75628 semapv:UnspecifiedMatching MONDO:0004697 esophageal leukoplakia skos:exactMatch NCIT:C3953 Esophageal Leukoplakia semapv:UnspecifiedMatching MONDO:0004697 esophageal leukoplakia skos:exactMatch SCTID:89057003 semapv:UnspecifiedMatching MONDO:0004697 esophageal leukoplakia skos:exactMatch UMLS:C0267095 semapv:UnspecifiedMatching MONDO:0004698 intestine carcinoma in situ skos:exactMatch DOID:9024 intestine carcinoma in situ semapv:UnspecifiedMatching MONDO:0004698 intestine carcinoma in situ skos:exactMatch MEDGEN:672856 semapv:UnspecifiedMatching MONDO:0004698 intestine carcinoma in situ skos:exactMatch SCTID:92617001 semapv:UnspecifiedMatching MONDO:0004698 intestine carcinoma in situ skos:exactMatch UMLS:C0685941 semapv:UnspecifiedMatching MONDO:0004699 gastrointestinal lymphoma skos:exactMatch DOID:903 gastrointestinal lymphoma semapv:UnspecifiedMatching MONDO:0004699 gastrointestinal lymphoma skos:exactMatch MEDGEN:148147 semapv:UnspecifiedMatching MONDO:0004699 gastrointestinal lymphoma skos:exactMatch NCIT:C38162 Digestive System Lymphoma semapv:UnspecifiedMatching MONDO:0004699 gastrointestinal lymphoma skos:exactMatch SCTID:449072004 semapv:UnspecifiedMatching MONDO:0004699 gastrointestinal lymphoma skos:exactMatch UMLS:C0740372 semapv:UnspecifiedMatching MONDO:0004700 parotid gland cancer skos:exactMatch DOID:9036 parotid gland cancer semapv:UnspecifiedMatching MONDO:0004700 parotid gland cancer skos:exactMatch ICD10CM:C07 Malignant neoplasm of parotid gland semapv:UnspecifiedMatching MONDO:0004700 parotid gland cancer skos:exactMatch MEDGEN:152885 semapv:UnspecifiedMatching MONDO:0004700 parotid gland cancer skos:exactMatch NCIT:C3525 Malignant Parotid Gland Neoplasm semapv:UnspecifiedMatching MONDO:0004700 parotid gland cancer skos:exactMatch SCTID:363379000 semapv:UnspecifiedMatching MONDO:0004700 parotid gland cancer skos:exactMatch UMLS:C0747273 semapv:UnspecifiedMatching MONDO:0004700 parotid gland cancer skos:exactMatch icd11.foundation:1640200163 Malignant neoplasms of parotid gland semapv:UnspecifiedMatching MONDO:0004700 parotid gland cancer skos:exactMatch mesh:D010307 semapv:UnspecifiedMatching MONDO:0004701 uterine polyp skos:exactMatch DOID:9042 polyp of corpus uteri semapv:UnspecifiedMatching MONDO:0004701 uterine polyp skos:exactMatch EFO:0009484 semapv:UnspecifiedMatching MONDO:0004701 uterine polyp skos:exactMatch ICD10CM:N84.0 Polyp of corpus uteri semapv:UnspecifiedMatching MONDO:0004701 uterine polyp skos:exactMatch MEDGEN:57628 semapv:UnspecifiedMatching MONDO:0004701 uterine polyp skos:exactMatch NCIT:C3662 Uterine Polyp semapv:UnspecifiedMatching MONDO:0004701 uterine polyp skos:exactMatch SCTID:11314008 semapv:UnspecifiedMatching MONDO:0004701 uterine polyp skos:exactMatch UMLS:C0156369 semapv:UnspecifiedMatching MONDO:0004702 uterine cervix leukoplakia skos:exactMatch DOID:9043 uterine cervix leukoplakia semapv:UnspecifiedMatching MONDO:0004702 uterine cervix leukoplakia skos:exactMatch ICD10CM:N88.0 Leukoplakia of cervix uteri semapv:UnspecifiedMatching MONDO:0004702 uterine cervix leukoplakia skos:exactMatch MEDGEN:124350 semapv:UnspecifiedMatching MONDO:0004702 uterine cervix leukoplakia skos:exactMatch NCIT:C3976 Cervical Leukoplakia semapv:UnspecifiedMatching MONDO:0004702 uterine cervix leukoplakia skos:exactMatch SCTID:50923006 semapv:UnspecifiedMatching MONDO:0004702 uterine cervix leukoplakia skos:exactMatch UMLS:C0269194 semapv:UnspecifiedMatching MONDO:0004703 bladder carcinoma in situ skos:exactMatch DOID:9053 bladder carcinoma in situ semapv:UnspecifiedMatching MONDO:0004703 bladder carcinoma in situ skos:exactMatch ICD10CM:D09.0 Carcinoma in situ of bladder semapv:UnspecifiedMatching MONDO:0004703 bladder carcinoma in situ skos:exactMatch MEDGEN:57584 semapv:UnspecifiedMatching MONDO:0004703 bladder carcinoma in situ skos:exactMatch NCIT:C3644 Stage 0is Bladder Urothelial Carcinoma AJCC v6 and v7 semapv:UnspecifiedMatching MONDO:0004703 bladder carcinoma in situ skos:exactMatch SCTID:92546004 semapv:UnspecifiedMatching MONDO:0004703 bladder carcinoma in situ skos:exactMatch UMLS:C0154091 semapv:UnspecifiedMatching MONDO:0004705 liver solitary fibrous tumor skos:exactMatch DOID:907 liver fibroma semapv:UnspecifiedMatching MONDO:0004705 liver solitary fibrous tumor skos:exactMatch MEDGEN:232273 semapv:UnspecifiedMatching MONDO:0004705 liver solitary fibrous tumor skos:exactMatch NCIT:C5752 Liver Solitary Fibrous Tumor semapv:UnspecifiedMatching MONDO:0004705 liver solitary fibrous tumor skos:exactMatch UMLS:C1333965 semapv:UnspecifiedMatching MONDO:0004706 discoid lupus erythematosus of eyelid skos:exactMatch DOID:9076 discoid lupus erythematosus of eyelid semapv:UnspecifiedMatching MONDO:0004706 discoid lupus erythematosus of eyelid skos:exactMatch ICD10CM:H01.12 Discoid lupus erythematosus of eyelid semapv:UnspecifiedMatching MONDO:0004706 discoid lupus erythematosus of eyelid skos:exactMatch MEDGEN:509835 semapv:UnspecifiedMatching MONDO:0004706 discoid lupus erythematosus of eyelid skos:exactMatch SCTID:79291003 semapv:UnspecifiedMatching MONDO:0004706 discoid lupus erythematosus of eyelid skos:exactMatch UMLS:C0155180 semapv:UnspecifiedMatching MONDO:0004706 discoid lupus erythematosus of eyelid skos:exactMatch icd11.foundation:743513349 Discoid lupus erythematosus of eyelid semapv:UnspecifiedMatching MONDO:0004707 anal canal carcinoma in situ skos:exactMatch DOID:9087 anal carcinoma in situ semapv:UnspecifiedMatching MONDO:0004707 anal canal carcinoma in situ skos:exactMatch MEDGEN:412201 semapv:UnspecifiedMatching MONDO:0004707 anal canal carcinoma in situ skos:exactMatch NCIT:C7794 Stage 0 Anal Canal Cancer AJCC v6 and v7 semapv:UnspecifiedMatching MONDO:0004707 anal canal carcinoma in situ skos:exactMatch SCTID:92531006 semapv:UnspecifiedMatching MONDO:0004707 anal canal carcinoma in situ skos:exactMatch UMLS:C2242854 semapv:UnspecifiedMatching MONDO:0004707 anal canal carcinoma in situ skos:exactMatch icd11.foundation:1447034 Carcinoma in situ of anal canal semapv:UnspecifiedMatching MONDO:0004708 esophagus carcinoma in situ skos:exactMatch DOID:9095 esophagus carcinoma in situ semapv:UnspecifiedMatching MONDO:0004708 esophagus carcinoma in situ skos:exactMatch ICD10CM:D00.1 Carcinoma in situ of esophagus semapv:UnspecifiedMatching MONDO:0004708 esophagus carcinoma in situ skos:exactMatch MEDGEN:56332 semapv:UnspecifiedMatching MONDO:0004708 esophagus carcinoma in situ skos:exactMatch NCIT:C89771 Stage 0 Esophageal Cancer AJCC v7 semapv:UnspecifiedMatching MONDO:0004708 esophagus carcinoma in situ skos:exactMatch SCTID:92585006 semapv:UnspecifiedMatching MONDO:0004708 esophagus carcinoma in situ skos:exactMatch UMLS:C0154059 semapv:UnspecifiedMatching MONDO:0004708 esophagus carcinoma in situ skos:exactMatch icd11.foundation:218644880 Carcinoma in situ of oesophagus semapv:UnspecifiedMatching MONDO:0004709 occipital lobe neoplasm skos:exactMatch DOID:910 occipital lobe neoplasm semapv:UnspecifiedMatching MONDO:0004709 occipital lobe neoplasm skos:exactMatch ICD10CM:C71.4 Malignant neoplasm of occipital lobe semapv:UnspecifiedMatching MONDO:0004709 occipital lobe neoplasm skos:exactMatch MEDGEN:220389 semapv:UnspecifiedMatching MONDO:0004709 occipital lobe neoplasm skos:exactMatch NCIT:C5574 Occipital Lobe Neoplasm semapv:UnspecifiedMatching MONDO:0004709 occipital lobe neoplasm skos:exactMatch SCTID:126957005 semapv:UnspecifiedMatching MONDO:0004709 occipital lobe neoplasm skos:exactMatch UMLS:C1263889 semapv:UnspecifiedMatching MONDO:0004710 uterus carcinoma in situ skos:exactMatch DOID:9108 uterus carcinoma in situ semapv:UnspecifiedMatching MONDO:0004710 uterus carcinoma in situ skos:exactMatch MEDGEN:673127 semapv:UnspecifiedMatching MONDO:0004710 uterus carcinoma in situ skos:exactMatch SCTID:92788005 semapv:UnspecifiedMatching MONDO:0004710 uterus carcinoma in situ skos:exactMatch UMLS:C0686237 semapv:UnspecifiedMatching MONDO:0004712 herpes simplex dermatitis skos:exactMatch DOID:9123 eczema herpeticum semapv:UnspecifiedMatching MONDO:0004712 herpes simplex dermatitis skos:exactMatch ICD10CM:B00.0 Eczema herpeticum semapv:UnspecifiedMatching MONDO:0004712 herpes simplex dermatitis skos:exactMatch MEDGEN:163132 semapv:UnspecifiedMatching MONDO:0004712 herpes simplex dermatitis skos:exactMatch NCIT:C35620 Herpes Simplex Dermatitis semapv:UnspecifiedMatching MONDO:0004712 herpes simplex dermatitis skos:exactMatch SCTID:186535001 semapv:UnspecifiedMatching MONDO:0004712 herpes simplex dermatitis skos:exactMatch UMLS:C0854331 semapv:UnspecifiedMatching MONDO:0004712 herpes simplex dermatitis skos:exactMatch mesh:D007617 semapv:UnspecifiedMatching MONDO:0004713 lower gum cancer skos:exactMatch DOID:9125 lower gum cancer semapv:UnspecifiedMatching MONDO:0004713 lower gum cancer skos:exactMatch MEDGEN:609602 semapv:UnspecifiedMatching MONDO:0004713 lower gum cancer skos:exactMatch SCTID:363384006 semapv:UnspecifiedMatching MONDO:0004713 lower gum cancer skos:exactMatch UMLS:C0432581 semapv:UnspecifiedMatching MONDO:0004714 atrophic muscular disease skos:exactMatch DOID:913 atrophic muscular disease semapv:UnspecifiedMatching MONDO:0004714 atrophic muscular disease skos:exactMatch MEDGEN:156267 semapv:UnspecifiedMatching MONDO:0004714 atrophic muscular disease skos:exactMatch NCIT:C84574 Atrophic Muscular Disorder semapv:UnspecifiedMatching MONDO:0004714 atrophic muscular disease skos:exactMatch UMLS:C0752352 semapv:UnspecifiedMatching MONDO:0004715 liver carcinoma in situ skos:exactMatch DOID:9132 liver carcinoma in situ semapv:UnspecifiedMatching MONDO:0004715 liver carcinoma in situ skos:exactMatch ICD10CM:D01.5 Carcinoma in situ of liver, gallbladder and bile ducts semapv:UnspecifiedMatching MONDO:0004715 liver carcinoma in situ skos:exactMatch MEDGEN:577201 semapv:UnspecifiedMatching MONDO:0004715 liver carcinoma in situ skos:exactMatch SCTID:92644006 semapv:UnspecifiedMatching MONDO:0004715 liver carcinoma in situ skos:exactMatch UMLS:C0345908 semapv:UnspecifiedMatching MONDO:0004715 liver carcinoma in situ skos:exactMatch icd11.foundation:1380265780 Carcinoma in situ of liver semapv:UnspecifiedMatching MONDO:0004716 stomach carcinoma in situ skos:exactMatch DOID:9138 stomach carcinoma in situ semapv:UnspecifiedMatching MONDO:0004716 stomach carcinoma in situ skos:exactMatch ICD10CM:D00.2 Carcinoma in situ of stomach semapv:UnspecifiedMatching MONDO:0004716 stomach carcinoma in situ skos:exactMatch MEDGEN:56333 semapv:UnspecifiedMatching MONDO:0004716 stomach carcinoma in situ skos:exactMatch NCIT:C7788 Stage 0 Gastric Cancer AJCC v6 and v7 semapv:UnspecifiedMatching MONDO:0004716 stomach carcinoma in situ skos:exactMatch SCTID:92756002 semapv:UnspecifiedMatching MONDO:0004716 stomach carcinoma in situ skos:exactMatch UMLS:C0154060 semapv:UnspecifiedMatching MONDO:0004716 stomach carcinoma in situ skos:exactMatch icd11.foundation:2040861039 Carcinoma in situ of stomach semapv:UnspecifiedMatching MONDO:0004717 peliosis hepatis skos:exactMatch DOID:914 peliosis hepatis semapv:UnspecifiedMatching MONDO:0004717 peliosis hepatis skos:exactMatch EFO:1001387 semapv:UnspecifiedMatching MONDO:0004717 peliosis hepatis skos:exactMatch ICD10CM:K76.4 Peliosis hepatis semapv:UnspecifiedMatching MONDO:0004717 peliosis hepatis skos:exactMatch MEDGEN:10618 semapv:UnspecifiedMatching MONDO:0004717 peliosis hepatis skos:exactMatch SCTID:58008004 semapv:UnspecifiedMatching MONDO:0004717 peliosis hepatis skos:exactMatch UMLS:C0030781 semapv:UnspecifiedMatching MONDO:0004717 peliosis hepatis skos:exactMatch icd11.foundation:1210061614 Peliosis hepatis semapv:UnspecifiedMatching MONDO:0004717 peliosis hepatis skos:exactMatch mesh:D010382 semapv:UnspecifiedMatching MONDO:0004718 xeroderma of eyelid skos:exactMatch DOID:9140 xeroderma of eyelid semapv:UnspecifiedMatching MONDO:0004718 xeroderma of eyelid skos:exactMatch ICD10CM:H01.14 Xeroderma of eyelid semapv:UnspecifiedMatching MONDO:0004718 xeroderma of eyelid skos:exactMatch MEDGEN:509834 semapv:UnspecifiedMatching MONDO:0004718 xeroderma of eyelid skos:exactMatch SCTID:55846006 semapv:UnspecifiedMatching MONDO:0004718 xeroderma of eyelid skos:exactMatch UMLS:C0155179 semapv:UnspecifiedMatching MONDO:0004718 xeroderma of eyelid skos:exactMatch icd11.foundation:144401595 Xeroderma of eyelid semapv:UnspecifiedMatching MONDO:0004719 hard palate cancer skos:exactMatch DOID:9149 hard palate cancer semapv:UnspecifiedMatching MONDO:0004719 hard palate cancer skos:exactMatch ICD10CM:C05.0 Malignant neoplasm of hard palate semapv:UnspecifiedMatching MONDO:0004719 hard palate cancer skos:exactMatch MEDGEN:57551 semapv:UnspecifiedMatching MONDO:0004719 hard palate cancer skos:exactMatch NCIT:C3528 Malignant Hard Palate Neoplasm semapv:UnspecifiedMatching MONDO:0004719 hard palate cancer skos:exactMatch SCTID:363387004 semapv:UnspecifiedMatching MONDO:0004719 hard palate cancer skos:exactMatch UMLS:C0153375 semapv:UnspecifiedMatching MONDO:0004720 variola minor infection skos:exactMatch DOID:9153 variola minor semapv:UnspecifiedMatching MONDO:0004720 variola minor infection skos:exactMatch MEDGEN:1393 semapv:UnspecifiedMatching MONDO:0004720 variola minor infection skos:exactMatch NCIT:C34365 Alastrim semapv:UnspecifiedMatching MONDO:0004720 variola minor infection skos:exactMatch SCTID:72294005 semapv:UnspecifiedMatching MONDO:0004720 variola minor infection skos:exactMatch UMLS:C0001906 semapv:UnspecifiedMatching MONDO:0004723 liver leiomyoma skos:exactMatch DOID:917 liver leiomyoma semapv:UnspecifiedMatching MONDO:0004723 liver leiomyoma skos:exactMatch MEDGEN:232276 semapv:UnspecifiedMatching MONDO:0004723 liver leiomyoma skos:exactMatch NCIT:C5753 Liver Leiomyoma semapv:UnspecifiedMatching MONDO:0004723 liver leiomyoma skos:exactMatch UMLS:C1333968 semapv:UnspecifiedMatching MONDO:0004724 submandibular gland cancer skos:exactMatch DOID:9173 submandibular gland cancer semapv:UnspecifiedMatching MONDO:0004724 submandibular gland cancer skos:exactMatch ICD10CM:C08.0 Malignant neoplasm of submandibular gland semapv:UnspecifiedMatching MONDO:0004724 submandibular gland cancer skos:exactMatch MEDGEN:57782 semapv:UnspecifiedMatching MONDO:0004724 submandibular gland cancer skos:exactMatch NCIT:C3526 Malignant Submandibular Gland Neoplasm semapv:UnspecifiedMatching MONDO:0004724 submandibular gland cancer skos:exactMatch SCTID:363380002 semapv:UnspecifiedMatching MONDO:0004724 submandibular gland cancer skos:exactMatch UMLS:C0153360 semapv:UnspecifiedMatching MONDO:0004725 rectum carcinoma in situ skos:exactMatch DOID:9174 rectum carcinoma in situ semapv:UnspecifiedMatching MONDO:0004725 rectum carcinoma in situ skos:exactMatch ICD10CM:D01.2 Carcinoma in situ of rectum semapv:UnspecifiedMatching MONDO:0004725 rectum carcinoma in situ skos:exactMatch MEDGEN:56335 semapv:UnspecifiedMatching MONDO:0004725 rectum carcinoma in situ skos:exactMatch NCIT:C4853 Stage 0 Rectal Cancer AJCC v6 and v7 semapv:UnspecifiedMatching MONDO:0004725 rectum carcinoma in situ skos:exactMatch SCTID:308879003 semapv:UnspecifiedMatching MONDO:0004725 rectum carcinoma in situ skos:exactMatch UMLS:C0154062 semapv:UnspecifiedMatching MONDO:0004725 rectum carcinoma in situ skos:exactMatch icd11.foundation:1700649456 Carcinoma in situ of rectum semapv:UnspecifiedMatching MONDO:0004726 liver inflammatory myofibroblastic tumor skos:exactMatch DOID:918 liver inflammatory pseudotumor semapv:UnspecifiedMatching MONDO:0004726 liver inflammatory myofibroblastic tumor skos:exactMatch MEDGEN:232275 semapv:UnspecifiedMatching MONDO:0004726 liver inflammatory myofibroblastic tumor skos:exactMatch NCIT:C5858 Liver Inflammatory Myofibroblastic Tumor semapv:UnspecifiedMatching MONDO:0004726 liver inflammatory myofibroblastic tumor skos:exactMatch SCTID:717329009 semapv:UnspecifiedMatching MONDO:0004726 liver inflammatory myofibroblastic tumor skos:exactMatch UMLS:C1333967 semapv:UnspecifiedMatching MONDO:0004727 vestibule of mouth cancer skos:exactMatch DOID:9188 vestibule of mouth cancer semapv:UnspecifiedMatching MONDO:0004727 vestibule of mouth cancer skos:exactMatch ICD10CM:C06.1 Malignant neoplasm of vestibule of mouth semapv:UnspecifiedMatching MONDO:0004727 vestibule of mouth cancer skos:exactMatch MEDGEN:509267 semapv:UnspecifiedMatching MONDO:0004727 vestibule of mouth cancer skos:exactMatch SCTID:187658004 semapv:UnspecifiedMatching MONDO:0004727 vestibule of mouth cancer skos:exactMatch UMLS:C0153374 semapv:UnspecifiedMatching MONDO:0004728 diabetic macular edema skos:exactMatch DOID:9191 diabetic macular edema semapv:UnspecifiedMatching MONDO:0004728 diabetic macular edema skos:exactMatch EFO:0009321 semapv:UnspecifiedMatching MONDO:0004728 diabetic macular edema skos:exactMatch MEDGEN:676494 semapv:UnspecifiedMatching MONDO:0004728 diabetic macular edema skos:exactMatch SCTID:312912001 semapv:UnspecifiedMatching MONDO:0004728 diabetic macular edema skos:exactMatch UMLS:C0730285 semapv:UnspecifiedMatching MONDO:0004729 dyskinesia of esophagus skos:exactMatch DOID:9192 dyskinesia of esophagus semapv:UnspecifiedMatching MONDO:0004729 dyskinesia of esophagus skos:exactMatch ICD10CM:K22.4 Dyskinesia of esophagus semapv:UnspecifiedMatching MONDO:0004729 dyskinesia of esophagus skos:exactMatch MEDGEN:41868 semapv:UnspecifiedMatching MONDO:0004729 dyskinesia of esophagus skos:exactMatch SCTID:266434009 semapv:UnspecifiedMatching MONDO:0004729 dyskinesia of esophagus skos:exactMatch UMLS:C0014858 semapv:UnspecifiedMatching MONDO:0004729 dyskinesia of esophagus skos:exactMatch icd11.foundation:581725607 Motility disorders of oesophagus semapv:UnspecifiedMatching MONDO:0004729 dyskinesia of esophagus skos:exactMatch mesh:D015154 semapv:UnspecifiedMatching MONDO:0004730 speech disorder skos:exactMatch DOID:92 speech disorder semapv:UnspecifiedMatching MONDO:0004730 speech disorder skos:exactMatch MEDGEN:11531 semapv:UnspecifiedMatching MONDO:0004730 speech disorder skos:exactMatch NCIT:C5041 Speech Disorder semapv:UnspecifiedMatching MONDO:0004730 speech disorder skos:exactMatch SCTID:47004009 semapv:UnspecifiedMatching MONDO:0004730 speech disorder skos:exactMatch UMLS:C0037822 semapv:UnspecifiedMatching MONDO:0004730 speech disorder skos:exactMatch mesh:D013064 semapv:UnspecifiedMatching MONDO:0004731 central sleep apnea syndrome skos:exactMatch DOID:9220 central sleep apnea semapv:UnspecifiedMatching MONDO:0004731 central sleep apnea syndrome skos:exactMatch MEDGEN:854402 semapv:UnspecifiedMatching MONDO:0004731 central sleep apnea syndrome skos:exactMatch NCIT:C27169 Central Sleep Apnea Syndrome semapv:UnspecifiedMatching MONDO:0004731 central sleep apnea syndrome skos:exactMatch SCTID:27405005 semapv:UnspecifiedMatching MONDO:0004731 central sleep apnea syndrome skos:exactMatch UMLS:C3887547 semapv:UnspecifiedMatching MONDO:0004731 central sleep apnea syndrome skos:exactMatch mesh:D020182 semapv:UnspecifiedMatching MONDO:0004732 kidney carcinoma in situ skos:exactMatch DOID:9234 kidney carcinoma in situ semapv:UnspecifiedMatching MONDO:0004732 kidney carcinoma in situ skos:exactMatch MEDGEN:673070 semapv:UnspecifiedMatching MONDO:0004732 kidney carcinoma in situ skos:exactMatch SCTID:92624000 semapv:UnspecifiedMatching MONDO:0004732 kidney carcinoma in situ skos:exactMatch UMLS:C0686172 semapv:UnspecifiedMatching MONDO:0004733 pyriform sinus cancer skos:exactMatch DOID:9235 pyriform sinus cancer semapv:UnspecifiedMatching MONDO:0004733 pyriform sinus cancer skos:exactMatch ICD10CM:C12 Malignant neoplasm of pyriform sinus semapv:UnspecifiedMatching MONDO:0004733 pyriform sinus cancer skos:exactMatch MEDGEN:102267 semapv:UnspecifiedMatching MONDO:0004733 pyriform sinus cancer skos:exactMatch NCIT:C3531 Malignant Pyriform Fossa Neoplasm semapv:UnspecifiedMatching MONDO:0004733 pyriform sinus cancer skos:exactMatch SCTID:363401000 semapv:UnspecifiedMatching MONDO:0004733 pyriform sinus cancer skos:exactMatch UMLS:C0153400 semapv:UnspecifiedMatching MONDO:0004736 inborn disorder of amino acid metabolism skos:exactMatch DOID:9252 amino acid metabolic disorder semapv:UnspecifiedMatching MONDO:0004736 inborn disorder of amino acid metabolism skos:exactMatch MEDGEN:1857273 semapv:UnspecifiedMatching MONDO:0004736 inborn disorder of amino acid metabolism skos:exactMatch NCIT:C97090 Amino Acid Metabolism Disorder semapv:UnspecifiedMatching MONDO:0004736 inborn disorder of amino acid metabolism skos:exactMatch SCTID:42930003 semapv:UnspecifiedMatching MONDO:0004736 inborn disorder of amino acid metabolism skos:exactMatch UMLS:C5886841 semapv:UnspecifiedMatching MONDO:0004736 inborn disorder of amino acid metabolism skos:exactMatch mesh:D000592 semapv:UnspecifiedMatching MONDO:0004737 homocystinuria skos:exactMatch DOID:9263 homocystinuria semapv:UnspecifiedMatching MONDO:0004737 homocystinuria skos:exactMatch ICD10CM:E72.11 Homocystinuria semapv:UnspecifiedMatching MONDO:0004737 homocystinuria skos:exactMatch MEDGEN:42485 semapv:UnspecifiedMatching MONDO:0004737 homocystinuria skos:exactMatch NCIT:C84765 Homocystinuria semapv:UnspecifiedMatching MONDO:0004737 homocystinuria skos:exactMatch SCTID:11282001 semapv:UnspecifiedMatching MONDO:0004737 homocystinuria skos:exactMatch UMLS:C0019880 semapv:UnspecifiedMatching MONDO:0004737 homocystinuria skos:exactMatch mesh:D006712 semapv:UnspecifiedMatching MONDO:0004739 urea cycle disorder skos:exactMatch DOID:9267 urea cycle disorder semapv:UnspecifiedMatching MONDO:0004739 urea cycle disorder skos:exactMatch MEDGEN:57586 semapv:UnspecifiedMatching MONDO:0004739 urea cycle disorder skos:exactMatch NCIT:C84785 Urea Cycle Metabolism Disorder semapv:UnspecifiedMatching MONDO:0004739 urea cycle disorder skos:exactMatch Orphanet:79167 Disorder of urea cycle metabolism and ammonia detoxification semapv:UnspecifiedMatching MONDO:0004739 urea cycle disorder skos:exactMatch SCTID:36444000 semapv:UnspecifiedMatching MONDO:0004739 urea cycle disorder skos:exactMatch UMLS:C0154246 semapv:UnspecifiedMatching MONDO:0004739 urea cycle disorder skos:exactMatch mesh:D056806 semapv:UnspecifiedMatching MONDO:0004741 tyrosinemia skos:exactMatch DOID:9275 tyrosinemia semapv:UnspecifiedMatching MONDO:0004741 tyrosinemia skos:exactMatch ICD10CM:E70.21 Tyrosinemia semapv:UnspecifiedMatching MONDO:0004741 tyrosinemia skos:exactMatch MEDGEN:541332 semapv:UnspecifiedMatching MONDO:0004741 tyrosinemia skos:exactMatch NCIT:C98640 Tyrosinemia semapv:UnspecifiedMatching MONDO:0004741 tyrosinemia skos:exactMatch OMIMPS:276700 Tyrosinemia semapv:UnspecifiedMatching MONDO:0004741 tyrosinemia skos:exactMatch SCTID:190694001 semapv:UnspecifiedMatching MONDO:0004741 tyrosinemia skos:exactMatch UMLS:C0268486 semapv:UnspecifiedMatching MONDO:0004741 tyrosinemia skos:exactMatch mesh:D020176 semapv:UnspecifiedMatching MONDO:0004742 obsolete primary cerebellar degeneration skos:exactMatch DOID:9277 primary cerebellar degeneration semapv:UnspecifiedMatching MONDO:0004742 obsolete primary cerebellar degeneration skos:exactMatch SCTID:23732000 semapv:UnspecifiedMatching MONDO:0004743 hyperhomocysteinemia skos:exactMatch DOID:9279 hyperhomocysteinemia semapv:UnspecifiedMatching MONDO:0004743 hyperhomocysteinemia skos:exactMatch MEDGEN:108623 semapv:UnspecifiedMatching MONDO:0004743 hyperhomocysteinemia skos:exactMatch NCIT:C84770 Hyperhomocysteinemia semapv:UnspecifiedMatching MONDO:0004743 hyperhomocysteinemia skos:exactMatch OMIM:603174 hyperhomocysteinemia semapv:UnspecifiedMatching MONDO:0004743 hyperhomocysteinemia skos:exactMatch SCTID:419503008 semapv:UnspecifiedMatching MONDO:0004743 hyperhomocysteinemia skos:exactMatch UMLS:C0598608 semapv:UnspecifiedMatching MONDO:0004743 hyperhomocysteinemia skos:exactMatch mesh:D020138 semapv:UnspecifiedMatching MONDO:0004744 borderline glaucoma skos:exactMatch DOID:9283 borderline glaucoma semapv:UnspecifiedMatching MONDO:0004744 borderline glaucoma skos:exactMatch MEDGEN:735885 semapv:UnspecifiedMatching MONDO:0004744 borderline glaucoma skos:exactMatch SCTID:193531003 semapv:UnspecifiedMatching MONDO:0004744 borderline glaucoma skos:exactMatch UMLS:C1533674 semapv:UnspecifiedMatching MONDO:0004745 priapism skos:exactMatch DOID:9286 priapism semapv:UnspecifiedMatching MONDO:0004745 priapism skos:exactMatch ICD10CM:N48.3 Priapism semapv:UnspecifiedMatching MONDO:0004745 priapism skos:exactMatch MEDGEN:19462 semapv:UnspecifiedMatching MONDO:0004745 priapism skos:exactMatch Orphanet:140949 Low-flow priapism semapv:UnspecifiedMatching MONDO:0004745 priapism skos:exactMatch SCTID:6273006 semapv:UnspecifiedMatching MONDO:0004745 priapism skos:exactMatch UMLS:C0033117 semapv:UnspecifiedMatching MONDO:0004745 priapism skos:exactMatch icd11.foundation:1983776037 Priapism semapv:UnspecifiedMatching MONDO:0004745 priapism skos:exactMatch mesh:D011317 semapv:UnspecifiedMatching MONDO:0004746 myopathy of extraocular muscle skos:exactMatch DOID:929 myopathy of extraocular muscle semapv:UnspecifiedMatching MONDO:0004746 myopathy of extraocular muscle skos:exactMatch ICD10CM:H05.82 Myopathy of extraocular muscles semapv:UnspecifiedMatching MONDO:0004746 myopathy of extraocular muscle skos:exactMatch MEDGEN:509895 semapv:UnspecifiedMatching MONDO:0004746 myopathy of extraocular muscle skos:exactMatch SCTID:57130002 semapv:UnspecifiedMatching MONDO:0004746 myopathy of extraocular muscle skos:exactMatch UMLS:C0155286 semapv:UnspecifiedMatching MONDO:0004747 cleft lip skos:exactMatch DOID:9296 cleft lip semapv:UnspecifiedMatching MONDO:0004747 cleft lip skos:exactMatch ICD10CM:Q36 Cleft lip semapv:UnspecifiedMatching MONDO:0004747 cleft lip skos:exactMatch ICD10WHO:Q36 Cleft lip semapv:UnspecifiedMatching MONDO:0004747 cleft lip skos:exactMatch MEDGEN:1370297 semapv:UnspecifiedMatching MONDO:0004747 cleft lip skos:exactMatch NCIT:C87175 Cleft Lip semapv:UnspecifiedMatching MONDO:0004747 cleft lip skos:exactMatch SCTID:80281008 semapv:UnspecifiedMatching MONDO:0004747 cleft lip skos:exactMatch UMLS:C4321245 semapv:UnspecifiedMatching MONDO:0004747 cleft lip skos:exactMatch mesh:D002971 semapv:UnspecifiedMatching MONDO:0004748 lip disorder skos:exactMatch DOID:9297 lip disease semapv:UnspecifiedMatching MONDO:0004748 lip disorder skos:exactMatch MEDGEN:44166 semapv:UnspecifiedMatching MONDO:0004748 lip disorder skos:exactMatch NCIT:C26818 Lip Disorder semapv:UnspecifiedMatching MONDO:0004748 lip disorder skos:exactMatch SCTID:90678009 semapv:UnspecifiedMatching MONDO:0004748 lip disorder skos:exactMatch UMLS:C0023760 semapv:UnspecifiedMatching MONDO:0004748 lip disorder skos:exactMatch mesh:D008047 semapv:UnspecifiedMatching MONDO:0004749 myocardium cancer skos:exactMatch DOID:9299 myocardium cancer semapv:UnspecifiedMatching MONDO:0004749 myocardium cancer skos:exactMatch MEDGEN:138067 semapv:UnspecifiedMatching MONDO:0004749 myocardium cancer skos:exactMatch NCIT:C4569 Malignant Myocardial Neoplasm semapv:UnspecifiedMatching MONDO:0004749 myocardium cancer skos:exactMatch UMLS:C0346611 semapv:UnspecifiedMatching MONDO:0004750 language disorder skos:exactMatch DOID:93 language disorder semapv:UnspecifiedMatching MONDO:0004750 language disorder skos:exactMatch MEDGEN:44069 semapv:UnspecifiedMatching MONDO:0004750 language disorder skos:exactMatch NCIT:C97155 Language Disorder semapv:UnspecifiedMatching MONDO:0004750 language disorder skos:exactMatch UMLS:C0023015 semapv:UnspecifiedMatching MONDO:0004750 language disorder skos:exactMatch mesh:D007806 semapv:UnspecifiedMatching MONDO:0004751 disease of orbital part of eye adnexa skos:exactMatch DOID:930 orbital disease semapv:UnspecifiedMatching MONDO:0004751 disease of orbital part of eye adnexa skos:exactMatch MEDGEN:45214 semapv:UnspecifiedMatching MONDO:0004751 disease of orbital part of eye adnexa skos:exactMatch UMLS:C0029182 semapv:UnspecifiedMatching MONDO:0004751 disease of orbital part of eye adnexa skos:exactMatch mesh:D009916 semapv:UnspecifiedMatching MONDO:0004752 neurofibroma of the heart skos:exactMatch DOID:9300 neurofibroma of the heart semapv:UnspecifiedMatching MONDO:0004752 neurofibroma of the heart skos:exactMatch MEDGEN:242755 semapv:UnspecifiedMatching MONDO:0004752 neurofibroma of the heart skos:exactMatch NCIT:C5359 Cardiac Neurofibroma semapv:UnspecifiedMatching MONDO:0004752 neurofibroma of the heart skos:exactMatch UMLS:C1096349 semapv:UnspecifiedMatching MONDO:0004753 mechanical strabismus skos:exactMatch DOID:9306 mechanical strabismus semapv:UnspecifiedMatching MONDO:0004753 mechanical strabismus skos:exactMatch ICD10CM:H50.6 Mechanical strabismus semapv:UnspecifiedMatching MONDO:0004753 mechanical strabismus skos:exactMatch MEDGEN:101828 semapv:UnspecifiedMatching MONDO:0004753 mechanical strabismus skos:exactMatch SCTID:5371001 semapv:UnspecifiedMatching MONDO:0004753 mechanical strabismus skos:exactMatch UMLS:C0152223 semapv:UnspecifiedMatching MONDO:0004753 mechanical strabismus skos:exactMatch icd11.foundation:230827382 Mechanical strabismus semapv:UnspecifiedMatching MONDO:0004754 rectal prolapse skos:exactMatch DOID:9307 rectal prolapse semapv:UnspecifiedMatching MONDO:0004754 rectal prolapse skos:exactMatch ICD10CM:K62.3 Rectal prolapse semapv:UnspecifiedMatching MONDO:0004754 rectal prolapse skos:exactMatch MEDGEN:11151 semapv:UnspecifiedMatching MONDO:0004754 rectal prolapse skos:exactMatch NCIT:C34973 Rectal Prolapse semapv:UnspecifiedMatching MONDO:0004754 rectal prolapse skos:exactMatch UMLS:C0034888 semapv:UnspecifiedMatching MONDO:0004754 rectal prolapse skos:exactMatch icd11.foundation:231914102 Rectal prolapse semapv:UnspecifiedMatching MONDO:0004754 rectal prolapse skos:exactMatch mesh:D012005 semapv:UnspecifiedMatching MONDO:0004755 monieziasis skos:exactMatch DOID:931 monieziasis semapv:UnspecifiedMatching MONDO:0004755 monieziasis skos:exactMatch MEDGEN:6424 semapv:UnspecifiedMatching MONDO:0004755 monieziasis skos:exactMatch UMLS:C0026414 semapv:UnspecifiedMatching MONDO:0004755 monieziasis skos:exactMatch mesh:D008989 semapv:UnspecifiedMatching MONDO:0004756 nasal cavity neoplasm skos:exactMatch DOID:9310 nasal cavity benign neoplasm semapv:UnspecifiedMatching MONDO:0004756 nasal cavity neoplasm skos:exactMatch MEDGEN:138023 semapv:UnspecifiedMatching MONDO:0004756 nasal cavity neoplasm skos:exactMatch NCIT:C4413 Nasal Cavity Neoplasm semapv:UnspecifiedMatching MONDO:0004756 nasal cavity neoplasm skos:exactMatch SCTID:126670003 semapv:UnspecifiedMatching MONDO:0004756 nasal cavity neoplasm skos:exactMatch UMLS:C0345630 semapv:UnspecifiedMatching MONDO:0004757 chronic ethmoidal sinusitis skos:exactMatch DOID:9312 chronic ethmoiditis semapv:UnspecifiedMatching MONDO:0004757 chronic ethmoidal sinusitis skos:exactMatch ICD10CM:J32.2 Chronic ethmoidal sinusitis semapv:UnspecifiedMatching MONDO:0004757 chronic ethmoidal sinusitis skos:exactMatch MEDGEN:3454 semapv:UnspecifiedMatching MONDO:0004757 chronic ethmoidal sinusitis skos:exactMatch NCIT:C34472 Chronic Ethmoidal Sinusitis semapv:UnspecifiedMatching MONDO:0004757 chronic ethmoidal sinusitis skos:exactMatch SCTID:73237007 semapv:UnspecifiedMatching MONDO:0004757 chronic ethmoidal sinusitis skos:exactMatch UMLS:C0008681 semapv:UnspecifiedMatching MONDO:0004757 chronic ethmoidal sinusitis skos:exactMatch icd11.foundation:1076459084 Chronic ethmoidal sinusitis semapv:UnspecifiedMatching MONDO:0004758 scotoma skos:exactMatch DOID:9335 scotoma semapv:UnspecifiedMatching MONDO:0004758 scotoma skos:exactMatch ICD10CM:H53.42 Scotoma of blind spot area semapv:UnspecifiedMatching MONDO:0004758 scotoma skos:exactMatch MEDGEN:19902 semapv:UnspecifiedMatching MONDO:0004758 scotoma skos:exactMatch UMLS:C0036454 semapv:UnspecifiedMatching MONDO:0004758 scotoma skos:exactMatch mesh:D012607 semapv:UnspecifiedMatching MONDO:0004759 zoophilia skos:exactMatch DOID:9336 bestiality semapv:UnspecifiedMatching MONDO:0004759 zoophilia skos:exactMatch MEDGEN:508916 semapv:UnspecifiedMatching MONDO:0004759 zoophilia skos:exactMatch SCTID:81463002 semapv:UnspecifiedMatching MONDO:0004759 zoophilia skos:exactMatch UMLS:C0152186 semapv:UnspecifiedMatching MONDO:0004760 urethral false passage skos:exactMatch DOID:9339 urethral false passage semapv:UnspecifiedMatching MONDO:0004760 urethral false passage skos:exactMatch ICD10CM:N36.5 Urethral false passage semapv:UnspecifiedMatching MONDO:0004760 urethral false passage skos:exactMatch MEDGEN:510227 semapv:UnspecifiedMatching MONDO:0004760 urethral false passage skos:exactMatch SCTID:74944002 semapv:UnspecifiedMatching MONDO:0004760 urethral false passage skos:exactMatch UMLS:C0156286 semapv:UnspecifiedMatching MONDO:0004761 obsolete urethral diverticulum skos:exactMatch DOID:9341 urethral diverticulum semapv:UnspecifiedMatching MONDO:0004762 pelvic congestion syndrome skos:exactMatch DOID:9346 Taylor's syndrome semapv:UnspecifiedMatching MONDO:0004762 pelvic congestion syndrome skos:exactMatch MEDGEN:508874 semapv:UnspecifiedMatching MONDO:0004762 pelvic congestion syndrome skos:exactMatch SCTID:39402007 semapv:UnspecifiedMatching MONDO:0004762 pelvic congestion syndrome skos:exactMatch UMLS:C0152078 semapv:UnspecifiedMatching MONDO:0004763 carotid artery dissection skos:exactMatch DOID:9348 carotid artery dissection semapv:UnspecifiedMatching MONDO:0004763 carotid artery dissection skos:exactMatch ICD10CM:I77.71 Dissection of carotid artery semapv:UnspecifiedMatching MONDO:0004763 carotid artery dissection skos:exactMatch MEDGEN:488844 semapv:UnspecifiedMatching MONDO:0004763 carotid artery dissection skos:exactMatch NCIT:C125662 Carotid Artery Dissection semapv:UnspecifiedMatching MONDO:0004763 carotid artery dissection skos:exactMatch SCTID:720626009 semapv:UnspecifiedMatching MONDO:0004763 carotid artery dissection skos:exactMatch UMLS:C0338585 semapv:UnspecifiedMatching MONDO:0004764 fibular collateral ligament bursitis skos:exactMatch DOID:9358 fibular collateral ligament bursitis semapv:UnspecifiedMatching MONDO:0004764 fibular collateral ligament bursitis skos:exactMatch MEDGEN:510512 semapv:UnspecifiedMatching MONDO:0004764 fibular collateral ligament bursitis skos:exactMatch SCTID:77323000 semapv:UnspecifiedMatching MONDO:0004764 fibular collateral ligament bursitis skos:exactMatch UMLS:C0158316 semapv:UnspecifiedMatching MONDO:0004765 intrinsic asthma skos:exactMatch DOID:9360 intrinsic asthma semapv:UnspecifiedMatching MONDO:0004765 intrinsic asthma skos:exactMatch MEDGEN:510123 semapv:UnspecifiedMatching MONDO:0004765 intrinsic asthma skos:exactMatch SCTID:266361008 semapv:UnspecifiedMatching MONDO:0004765 intrinsic asthma skos:exactMatch UMLS:C0155880 semapv:UnspecifiedMatching MONDO:0004766 status asthmaticus skos:exactMatch DOID:9362 status asthmaticus semapv:UnspecifiedMatching MONDO:0004766 status asthmaticus skos:exactMatch EFO:0008590 semapv:UnspecifiedMatching MONDO:0004766 status asthmaticus skos:exactMatch ICD10WHO:J46 Status asthmaticus semapv:UnspecifiedMatching MONDO:0004766 status asthmaticus skos:exactMatch MEDGEN:11584 semapv:UnspecifiedMatching MONDO:0004766 status asthmaticus skos:exactMatch NCIT:C122577 Status Asthmaticus semapv:UnspecifiedMatching MONDO:0004766 status asthmaticus skos:exactMatch SCTID:708090002 semapv:UnspecifiedMatching MONDO:0004766 status asthmaticus skos:exactMatch UMLS:C0038218 semapv:UnspecifiedMatching MONDO:0004766 status asthmaticus skos:exactMatch mesh:D013224 semapv:UnspecifiedMatching MONDO:0004767 vesiculitis skos:exactMatch DOID:9365 vesiculitis semapv:UnspecifiedMatching MONDO:0004767 vesiculitis skos:exactMatch MEDGEN:508285 semapv:UnspecifiedMatching MONDO:0004767 vesiculitis skos:exactMatch NCIT:C12787 Seminal Vesicle semapv:UnspecifiedMatching MONDO:0004767 vesiculitis skos:exactMatch SCTID:27001009 semapv:UnspecifiedMatching MONDO:0004767 vesiculitis skos:exactMatch UMLS:C0042588 semapv:UnspecifiedMatching MONDO:0004768 keratoconjunctivitis skos:exactMatch DOID:9368 keratoconjunctivitis semapv:UnspecifiedMatching MONDO:0004768 keratoconjunctivitis skos:exactMatch ICD10CM:H16.2 Keratoconjunctivitis semapv:UnspecifiedMatching MONDO:0004768 keratoconjunctivitis skos:exactMatch MEDGEN:44014 semapv:UnspecifiedMatching MONDO:0004768 keratoconjunctivitis skos:exactMatch NCIT:C34744 Keratoconjunctivitis semapv:UnspecifiedMatching MONDO:0004768 keratoconjunctivitis skos:exactMatch SCTID:88151007 semapv:UnspecifiedMatching MONDO:0004768 keratoconjunctivitis skos:exactMatch UMLS:C0022573 semapv:UnspecifiedMatching MONDO:0004768 keratoconjunctivitis skos:exactMatch mesh:D007637 semapv:UnspecifiedMatching MONDO:0004769 orbital pseudotumor skos:exactMatch DOID:9369 orbital plasma cell granuloma semapv:UnspecifiedMatching MONDO:0004769 orbital pseudotumor skos:exactMatch MEDGEN:43140 semapv:UnspecifiedMatching MONDO:0004769 orbital pseudotumor skos:exactMatch SCTID:72789009 semapv:UnspecifiedMatching MONDO:0004769 orbital pseudotumor skos:exactMatch UMLS:C0085270 semapv:UnspecifiedMatching MONDO:0004769 orbital pseudotumor skos:exactMatch mesh:D016727 semapv:UnspecifiedMatching MONDO:0004770 exophthalmos skos:exactMatch MEDGEN:41917 semapv:UnspecifiedMatching MONDO:0004770 exophthalmos skos:exactMatch NCIT:C118763 Exophthalmos semapv:UnspecifiedMatching MONDO:0004770 exophthalmos skos:exactMatch SCTID:18265008 semapv:UnspecifiedMatching MONDO:0004770 exophthalmos skos:exactMatch UMLS:C0015300 semapv:UnspecifiedMatching MONDO:0004770 exophthalmos skos:exactMatch mesh:D005094 semapv:UnspecifiedMatching MONDO:0004772 glaucomatocyclitic crisis skos:exactMatch DOID:9378 glaucomatocyclitic crisis semapv:UnspecifiedMatching MONDO:0004772 glaucomatocyclitic crisis skos:exactMatch MEDGEN:508902 semapv:UnspecifiedMatching MONDO:0004772 glaucomatocyclitic crisis skos:exactMatch Orphanet:636950 Glaucomatocyclitic crisis disease semapv:UnspecifiedMatching MONDO:0004772 glaucomatocyclitic crisis skos:exactMatch SCTID:29538005 semapv:UnspecifiedMatching MONDO:0004772 glaucomatocyclitic crisis skos:exactMatch UMLS:C0152138 semapv:UnspecifiedMatching MONDO:0004773 iridocyclitis skos:exactMatch DOID:9383 iridocyclitis semapv:UnspecifiedMatching MONDO:0004773 iridocyclitis skos:exactMatch ICD10CM:H20 Iridocyclitis semapv:UnspecifiedMatching MONDO:0004773 iridocyclitis skos:exactMatch ICD10WHO:H20 Iridocyclitis semapv:UnspecifiedMatching MONDO:0004773 iridocyclitis skos:exactMatch MEDGEN:43961 semapv:UnspecifiedMatching MONDO:0004773 iridocyclitis skos:exactMatch NCIT:C34736 Iridocyclitis semapv:UnspecifiedMatching MONDO:0004773 iridocyclitis skos:exactMatch SCTID:77971008 semapv:UnspecifiedMatching MONDO:0004773 iridocyclitis skos:exactMatch UMLS:C0022073 semapv:UnspecifiedMatching MONDO:0004773 iridocyclitis skos:exactMatch mesh:D015863 semapv:UnspecifiedMatching MONDO:0004774 gonococcal iridocyclitis skos:exactMatch DOID:9384 gonococcal iridocyclitis semapv:UnspecifiedMatching MONDO:0004774 gonococcal iridocyclitis skos:exactMatch ICD10CM:A54.32 Gonococcal iridocyclitis semapv:UnspecifiedMatching MONDO:0004774 gonococcal iridocyclitis skos:exactMatch MEDGEN:509207 semapv:UnspecifiedMatching MONDO:0004774 gonococcal iridocyclitis skos:exactMatch SCTID:9091006 semapv:UnspecifiedMatching MONDO:0004774 gonococcal iridocyclitis skos:exactMatch UMLS:C0153212 semapv:UnspecifiedMatching MONDO:0004775 lens-induced iridocyclitis skos:exactMatch DOID:9388 lens-induced iridocyclitis semapv:UnspecifiedMatching MONDO:0004775 lens-induced iridocyclitis skos:exactMatch ICD10CM:H20.2 Lens-induced iridocyclitis semapv:UnspecifiedMatching MONDO:0004775 lens-induced iridocyclitis skos:exactMatch MEDGEN:573082 semapv:UnspecifiedMatching MONDO:0004775 lens-induced iridocyclitis skos:exactMatch SCTID:70461003 semapv:UnspecifiedMatching MONDO:0004775 lens-induced iridocyclitis skos:exactMatch UMLS:C0339320 semapv:UnspecifiedMatching MONDO:0004777 acute laryngitis skos:exactMatch DOID:9396 acute laryngitis semapv:UnspecifiedMatching MONDO:0004777 acute laryngitis skos:exactMatch ICD10CM:J04.0 Acute laryngitis semapv:UnspecifiedMatching MONDO:0004777 acute laryngitis skos:exactMatch MEDGEN:1317 semapv:UnspecifiedMatching MONDO:0004777 acute laryngitis skos:exactMatch NCIT:C26688 Acute Laryngitis semapv:UnspecifiedMatching MONDO:0004777 acute laryngitis skos:exactMatch SCTID:6655004 semapv:UnspecifiedMatching MONDO:0004777 acute laryngitis skos:exactMatch UMLS:C0001327 semapv:UnspecifiedMatching MONDO:0004777 acute laryngitis skos:exactMatch icd11.foundation:1180710837 Acute laryngitis semapv:UnspecifiedMatching MONDO:0004778 epididymo-orchitis skos:exactMatch DOID:9401 epididymo-orchitis semapv:UnspecifiedMatching MONDO:0004778 epididymo-orchitis skos:exactMatch ICD10CM:N45.3 Epididymo-orchitis semapv:UnspecifiedMatching MONDO:0004778 epididymo-orchitis skos:exactMatch MEDGEN:508448 semapv:UnspecifiedMatching MONDO:0004778 epididymo-orchitis skos:exactMatch SCTID:197983000 semapv:UnspecifiedMatching MONDO:0004778 epididymo-orchitis skos:exactMatch UMLS:C0149881 semapv:UnspecifiedMatching MONDO:0004778 epididymo-orchitis skos:exactMatch icd11.foundation:1745517194 Epididymo-orchitis semapv:UnspecifiedMatching MONDO:0004779 epididymitis skos:exactMatch DOID:9402 epididymitis semapv:UnspecifiedMatching MONDO:0004779 epididymitis skos:exactMatch ICD10CM:N45.1 Epididymitis semapv:UnspecifiedMatching MONDO:0004779 epididymitis skos:exactMatch MEDGEN:4986 semapv:UnspecifiedMatching MONDO:0004779 epididymitis skos:exactMatch NCIT:C12328 Epididymis semapv:UnspecifiedMatching MONDO:0004779 epididymitis skos:exactMatch SCTID:31070006 semapv:UnspecifiedMatching MONDO:0004779 epididymitis skos:exactMatch UMLS:C0014534 semapv:UnspecifiedMatching MONDO:0004779 epididymitis skos:exactMatch mesh:D004823 semapv:UnspecifiedMatching MONDO:0004780 strictly posterior acute myocardial infarction skos:exactMatch DOID:9407 strictly posterior acute myocardial infarction semapv:UnspecifiedMatching MONDO:0004780 strictly posterior acute myocardial infarction skos:exactMatch MEDGEN:538775 semapv:UnspecifiedMatching MONDO:0004780 strictly posterior acute myocardial infarction skos:exactMatch UMLS:C0264706 semapv:UnspecifiedMatching MONDO:0004781 acute myocardial infarction skos:exactMatch DOID:9408 acute myocardial infarction semapv:UnspecifiedMatching MONDO:0004781 acute myocardial infarction skos:exactMatch EFO:0008583 semapv:UnspecifiedMatching MONDO:0004781 acute myocardial infarction skos:exactMatch ICD10CM:I21.9 Acute myocardial infarction, unspecified semapv:UnspecifiedMatching MONDO:0004781 acute myocardial infarction skos:exactMatch ICD10WHO:I21 Acute myocardial infarction semapv:UnspecifiedMatching MONDO:0004781 acute myocardial infarction skos:exactMatch MEDGEN:57611 semapv:UnspecifiedMatching MONDO:0004781 acute myocardial infarction skos:exactMatch NCIT:C35204 Acute Myocardial Infarction semapv:UnspecifiedMatching MONDO:0004781 acute myocardial infarction skos:exactMatch SCTID:57054005 semapv:UnspecifiedMatching MONDO:0004781 acute myocardial infarction skos:exactMatch UMLS:C0155626 semapv:UnspecifiedMatching MONDO:0004781 acute myocardial infarction skos:exactMatch icd11.foundation:1334938734 Acute myocardial infarction semapv:UnspecifiedMatching MONDO:0004782 diabetes insipidus skos:exactMatch DOID:9409 diabetes insipidus semapv:UnspecifiedMatching MONDO:0004782 diabetes insipidus skos:exactMatch ICD10CM:E23.2 Diabetes insipidus semapv:UnspecifiedMatching MONDO:0004782 diabetes insipidus skos:exactMatch MEDGEN:8349 semapv:UnspecifiedMatching MONDO:0004782 diabetes insipidus skos:exactMatch NCIT:C43263 Diabetes Insipidus semapv:UnspecifiedMatching MONDO:0004782 diabetes insipidus skos:exactMatch SCTID:15771004 semapv:UnspecifiedMatching MONDO:0004782 diabetes insipidus skos:exactMatch UMLS:C0011848 semapv:UnspecifiedMatching MONDO:0004782 diabetes insipidus skos:exactMatch mesh:D003919 semapv:UnspecifiedMatching MONDO:0004784 allergic asthma skos:exactMatch DOID:9415 allergic asthma semapv:UnspecifiedMatching MONDO:0004784 allergic asthma skos:exactMatch MEDGEN:102343 semapv:UnspecifiedMatching MONDO:0004784 allergic asthma skos:exactMatch SCTID:389145006 semapv:UnspecifiedMatching MONDO:0004784 allergic asthma skos:exactMatch UMLS:C0155877 semapv:UnspecifiedMatching MONDO:0004784 allergic asthma skos:exactMatch icd11.foundation:1870104478 Allergic asthma semapv:UnspecifiedMatching MONDO:0004785 blepharitis skos:exactMatch DOID:9423 blepharitis semapv:UnspecifiedMatching MONDO:0004785 blepharitis skos:exactMatch EFO:0009536 semapv:UnspecifiedMatching MONDO:0004785 blepharitis skos:exactMatch ICD10CM:H01.0 Blepharitis semapv:UnspecifiedMatching MONDO:0004785 blepharitis skos:exactMatch MEDGEN:598 semapv:UnspecifiedMatching MONDO:0004785 blepharitis skos:exactMatch NCIT:C112183 Blepharitis semapv:UnspecifiedMatching MONDO:0004785 blepharitis skos:exactMatch SCTID:41446000 semapv:UnspecifiedMatching MONDO:0004785 blepharitis skos:exactMatch UMLS:C0005741 semapv:UnspecifiedMatching MONDO:0004785 blepharitis skos:exactMatch mesh:D001762 semapv:UnspecifiedMatching MONDO:0004786 chronic cholangitis skos:exactMatch DOID:9439 chronic cholangitis semapv:UnspecifiedMatching MONDO:0004786 chronic cholangitis skos:exactMatch MEDGEN:82765 semapv:UnspecifiedMatching MONDO:0004786 chronic cholangitis skos:exactMatch NCIT:C35335 Chronic Cholangitis semapv:UnspecifiedMatching MONDO:0004786 chronic cholangitis skos:exactMatch SCTID:71912000 semapv:UnspecifiedMatching MONDO:0004786 chronic cholangitis skos:exactMatch UMLS:C0267918 semapv:UnspecifiedMatching MONDO:0004787 cervical mullerian papilloma skos:exactMatch DOID:9442 cervical Mullerian papilloma semapv:UnspecifiedMatching MONDO:0004787 cervical mullerian papilloma skos:exactMatch MEDGEN:273910 semapv:UnspecifiedMatching MONDO:0004787 cervical mullerian papilloma skos:exactMatch NCIT:C40215 Cervical Mullerian Papilloma semapv:UnspecifiedMatching MONDO:0004787 cervical mullerian papilloma skos:exactMatch UMLS:C1516427 semapv:UnspecifiedMatching MONDO:0004788 cervix squamous papilloma skos:exactMatch DOID:9445 cervix squamous papilloma semapv:UnspecifiedMatching MONDO:0004788 cervix squamous papilloma skos:exactMatch MEDGEN:237038 semapv:UnspecifiedMatching MONDO:0004788 cervix squamous papilloma skos:exactMatch NCIT:C6342 Cervical Squamous Papilloma semapv:UnspecifiedMatching MONDO:0004788 cervix squamous papilloma skos:exactMatch UMLS:C1336900 semapv:UnspecifiedMatching MONDO:0004789 cholangitis skos:exactMatch DOID:9446 cholangitis semapv:UnspecifiedMatching MONDO:0004789 cholangitis skos:exactMatch ICD10CM:K83.0 Cholangitis semapv:UnspecifiedMatching MONDO:0004789 cholangitis skos:exactMatch MEDGEN:40258 semapv:UnspecifiedMatching MONDO:0004789 cholangitis skos:exactMatch NCIT:C26718 Cholangitis semapv:UnspecifiedMatching MONDO:0004789 cholangitis skos:exactMatch SCTID:82403002 semapv:UnspecifiedMatching MONDO:0004789 cholangitis skos:exactMatch UMLS:C0008311 semapv:UnspecifiedMatching MONDO:0004789 cholangitis skos:exactMatch icd11.foundation:1712178777 Cholangitis semapv:UnspecifiedMatching MONDO:0004789 cholangitis skos:exactMatch mesh:D002761 semapv:UnspecifiedMatching MONDO:0004790 fatty liver disease skos:exactMatch DOID:9452 steatotic liver disease semapv:UnspecifiedMatching MONDO:0004790 fatty liver disease skos:exactMatch MEDGEN:398225 semapv:UnspecifiedMatching MONDO:0004790 fatty liver disease skos:exactMatch SCTID:197321007 semapv:UnspecifiedMatching MONDO:0004790 fatty liver disease skos:exactMatch UMLS:C2711227 semapv:UnspecifiedMatching MONDO:0004790 fatty liver disease skos:exactMatch mesh:D005234 semapv:UnspecifiedMatching MONDO:0004792 cancer of isthmus of fallopian tube skos:exactMatch DOID:9459 isthmus cancer semapv:UnspecifiedMatching MONDO:0004792 cancer of isthmus of fallopian tube skos:exactMatch MEDGEN:1843459 semapv:UnspecifiedMatching MONDO:0004792 cancer of isthmus of fallopian tube skos:exactMatch UMLS:C0153575 semapv:UnspecifiedMatching MONDO:0004794 exposure keratitis skos:exactMatch DOID:9461 exposure keratitis semapv:UnspecifiedMatching MONDO:0004794 exposure keratitis skos:exactMatch ICD10CM:H16.21 Exposure keratoconjunctivitis semapv:UnspecifiedMatching MONDO:0004794 exposure keratitis skos:exactMatch MEDGEN:87383 semapv:UnspecifiedMatching MONDO:0004794 exposure keratitis skos:exactMatch SCTID:14366000 semapv:UnspecifiedMatching MONDO:0004794 exposure keratitis skos:exactMatch UMLS:C0339295 semapv:UnspecifiedMatching MONDO:0004794 exposure keratitis skos:exactMatch icd11.foundation:1261495652 Exposure keratitis semapv:UnspecifiedMatching MONDO:0004795 otitis externa skos:exactMatch DOID:9463 otitis externa semapv:UnspecifiedMatching MONDO:0004795 otitis externa skos:exactMatch EFO:0009560 semapv:UnspecifiedMatching MONDO:0004795 otitis externa skos:exactMatch ICD10CM:H60 Otitis externa semapv:UnspecifiedMatching MONDO:0004795 otitis externa skos:exactMatch ICD10CM:H60.33 Swimmer's ear semapv:UnspecifiedMatching MONDO:0004795 otitis externa skos:exactMatch ICD10WHO:H60 Otitis externa semapv:UnspecifiedMatching MONDO:0004795 otitis externa skos:exactMatch MEDGEN:10505 semapv:UnspecifiedMatching MONDO:0004795 otitis externa skos:exactMatch NCIT:C3299 Infectious Otitis Externa semapv:UnspecifiedMatching MONDO:0004795 otitis externa skos:exactMatch NCIT:C79601 Otitis Externa semapv:UnspecifiedMatching MONDO:0004795 otitis externa skos:exactMatch SCTID:3135009 semapv:UnspecifiedMatching MONDO:0004795 otitis externa skos:exactMatch UMLS:C0029878 semapv:UnspecifiedMatching MONDO:0004795 otitis externa skos:exactMatch icd11.foundation:1303990434 Otitis externa semapv:UnspecifiedMatching MONDO:0004795 otitis externa skos:exactMatch mesh:D010032 semapv:UnspecifiedMatching MONDO:0004796 infectious meningitis skos:exactMatch DOID:9471 meningitis semapv:UnspecifiedMatching MONDO:0004796 infectious meningitis skos:exactMatch EFO:0000584 semapv:UnspecifiedMatching MONDO:0004796 infectious meningitis skos:exactMatch MEDGEN:152668 semapv:UnspecifiedMatching MONDO:0004796 infectious meningitis skos:exactMatch NCIT:C79598 Infectious Meningitis semapv:UnspecifiedMatching MONDO:0004796 infectious meningitis skos:exactMatch SCTID:312216007 semapv:UnspecifiedMatching MONDO:0004796 infectious meningitis skos:exactMatch UMLS:C0729584 semapv:UnspecifiedMatching MONDO:0004797 mononeuritis of lower limb skos:exactMatch DOID:9473 mononeuritis of lower limb semapv:UnspecifiedMatching MONDO:0004797 mononeuritis of lower limb skos:exactMatch MEDGEN:509642 semapv:UnspecifiedMatching MONDO:0004797 mononeuritis of lower limb skos:exactMatch UMLS:C0154747 semapv:UnspecifiedMatching MONDO:0004799 ulcerative blepharitis skos:exactMatch DOID:9483 ulcerative blepharitis semapv:UnspecifiedMatching MONDO:0004799 ulcerative blepharitis skos:exactMatch ICD10CM:H01.01 Ulcerative blepharitis semapv:UnspecifiedMatching MONDO:0004799 ulcerative blepharitis skos:exactMatch MEDGEN:509828 semapv:UnspecifiedMatching MONDO:0004799 ulcerative blepharitis skos:exactMatch SCTID:91662004 semapv:UnspecifiedMatching MONDO:0004799 ulcerative blepharitis skos:exactMatch UMLS:C0155173 semapv:UnspecifiedMatching MONDO:0004800 chronic dacryoadenitis skos:exactMatch DOID:949 chronic dacryoadenitis semapv:UnspecifiedMatching MONDO:0004800 chronic dacryoadenitis skos:exactMatch ICD10CM:H04.02 Chronic dacryoadenitis semapv:UnspecifiedMatching MONDO:0004800 chronic dacryoadenitis skos:exactMatch MEDGEN:509857 semapv:UnspecifiedMatching MONDO:0004800 chronic dacryoadenitis skos:exactMatch SCTID:4760008 semapv:UnspecifiedMatching MONDO:0004800 chronic dacryoadenitis skos:exactMatch UMLS:C0155224 semapv:UnspecifiedMatching MONDO:0004801 unilateral hypoactive labyrinth skos:exactMatch DOID:9496 unilateral hypoactive labyrinth semapv:UnspecifiedMatching MONDO:0004801 unilateral hypoactive labyrinth skos:exactMatch MEDGEN:510003 semapv:UnspecifiedMatching MONDO:0004801 unilateral hypoactive labyrinth skos:exactMatch UMLS:C0155517 semapv:UnspecifiedMatching MONDO:0004802 pulmonary eosinophilia skos:exactMatch DOID:9498 pulmonary eosinophilia semapv:UnspecifiedMatching MONDO:0004802 pulmonary eosinophilia skos:exactMatch MEDGEN:46208 semapv:UnspecifiedMatching MONDO:0004802 pulmonary eosinophilia skos:exactMatch SCTID:367542003 semapv:UnspecifiedMatching MONDO:0004802 pulmonary eosinophilia skos:exactMatch UMLS:C0034068 semapv:UnspecifiedMatching MONDO:0004802 pulmonary eosinophilia skos:exactMatch icd11.foundation:544479555 Pulmonary eosinophilia semapv:UnspecifiedMatching MONDO:0004802 pulmonary eosinophilia skos:exactMatch mesh:D011657 semapv:UnspecifiedMatching MONDO:0004803 disseminated eosinophilic collagen disease skos:exactMatch DOID:9499 disseminated eosinophilic collagen disease semapv:UnspecifiedMatching MONDO:0004803 disseminated eosinophilic collagen disease skos:exactMatch MEDGEN:538043 semapv:UnspecifiedMatching MONDO:0004803 disseminated eosinophilic collagen disease skos:exactMatch SCTID:423486005 semapv:UnspecifiedMatching MONDO:0004803 disseminated eosinophilic collagen disease skos:exactMatch UMLS:C0263662 semapv:UnspecifiedMatching MONDO:0004804 dacryoadenitis skos:exactMatch DOID:950 dacryoadenitis semapv:UnspecifiedMatching MONDO:0004804 dacryoadenitis skos:exactMatch ICD10CM:H04.0 Dacryoadenitis semapv:UnspecifiedMatching MONDO:0004804 dacryoadenitis skos:exactMatch MEDGEN:102328 semapv:UnspecifiedMatching MONDO:0004804 dacryoadenitis skos:exactMatch NCIT:C26971 Dacryoadenitis semapv:UnspecifiedMatching MONDO:0004804 dacryoadenitis skos:exactMatch SCTID:86927009 semapv:UnspecifiedMatching MONDO:0004804 dacryoadenitis skos:exactMatch UMLS:C0155223 semapv:UnspecifiedMatching MONDO:0004805 leukocyte disorder skos:exactMatch DOID:9500 leukocyte disease semapv:UnspecifiedMatching MONDO:0004805 leukocyte disorder skos:exactMatch MEDGEN:7325 semapv:UnspecifiedMatching MONDO:0004805 leukocyte disorder skos:exactMatch SCTID:54097007 semapv:UnspecifiedMatching MONDO:0004805 leukocyte disorder skos:exactMatch UMLS:C0023510 semapv:UnspecifiedMatching MONDO:0004805 leukocyte disorder skos:exactMatch mesh:D007960 semapv:UnspecifiedMatching MONDO:0004806 chronic eosinophilic pneumonia skos:exactMatch DOID:9502 chronic eosinophilic pneumonia semapv:UnspecifiedMatching MONDO:0004806 chronic eosinophilic pneumonia skos:exactMatch ICD10CM:J82.81 Chronic eosinophilic pneumonia semapv:UnspecifiedMatching MONDO:0004806 chronic eosinophilic pneumonia skos:exactMatch MEDGEN:3085 semapv:UnspecifiedMatching MONDO:0004806 chronic eosinophilic pneumonia skos:exactMatch NCIT:C34471 Chronic Eosinophilic Pneumonia semapv:UnspecifiedMatching MONDO:0004806 chronic eosinophilic pneumonia skos:exactMatch SCTID:233692000 semapv:UnspecifiedMatching MONDO:0004806 chronic eosinophilic pneumonia skos:exactMatch UMLS:C0008680 semapv:UnspecifiedMatching MONDO:0004808 benign mammary dysplasia skos:exactMatch DOID:9504 benign mammary dysplasia semapv:UnspecifiedMatching MONDO:0004808 benign mammary dysplasia skos:exactMatch ICD10CM:N60 Benign mammary dysplasia semapv:UnspecifiedMatching MONDO:0004808 benign mammary dysplasia skos:exactMatch ICD10WHO:N60 Benign mammary dysplasia semapv:UnspecifiedMatching MONDO:0004808 benign mammary dysplasia skos:exactMatch MEDGEN:726820 semapv:UnspecifiedMatching MONDO:0004808 benign mammary dysplasia skos:exactMatch SCTID:57993004 semapv:UnspecifiedMatching MONDO:0004808 benign mammary dysplasia skos:exactMatch UMLS:C1305934 semapv:UnspecifiedMatching MONDO:0004810 acute ethmoiditis skos:exactMatch DOID:9506 acute ethmoiditis semapv:UnspecifiedMatching MONDO:0004810 acute ethmoiditis skos:exactMatch ICD10CM:J01.2 Acute ethmoidal sinusitis semapv:UnspecifiedMatching MONDO:0004810 acute ethmoiditis skos:exactMatch MEDGEN:510088 semapv:UnspecifiedMatching MONDO:0004810 acute ethmoiditis skos:exactMatch SCTID:67832005 semapv:UnspecifiedMatching MONDO:0004810 acute ethmoiditis skos:exactMatch UMLS:C0155806 semapv:UnspecifiedMatching MONDO:0004811 simple chronic conjunctivitis skos:exactMatch DOID:9512 simple chronic conjunctivitis semapv:UnspecifiedMatching MONDO:0004811 simple chronic conjunctivitis skos:exactMatch ICD10CM:H10.42 Simple chronic conjunctivitis semapv:UnspecifiedMatching MONDO:0004811 simple chronic conjunctivitis skos:exactMatch MEDGEN:509807 semapv:UnspecifiedMatching MONDO:0004811 simple chronic conjunctivitis skos:exactMatch SCTID:8211008 semapv:UnspecifiedMatching MONDO:0004811 simple chronic conjunctivitis skos:exactMatch UMLS:C0155146 semapv:UnspecifiedMatching MONDO:0004812 acute dacryoadenitis skos:exactMatch DOID:952 acute dacryoadenitis semapv:UnspecifiedMatching MONDO:0004812 acute dacryoadenitis skos:exactMatch ICD10CM:H04.01 Acute dacryoadenitis semapv:UnspecifiedMatching MONDO:0004812 acute dacryoadenitis skos:exactMatch MEDGEN:508387 semapv:UnspecifiedMatching MONDO:0004812 acute dacryoadenitis skos:exactMatch SCTID:2589008 semapv:UnspecifiedMatching MONDO:0004812 acute dacryoadenitis skos:exactMatch UMLS:C0149505 semapv:UnspecifiedMatching MONDO:0004813 tuberculous pneumothorax skos:exactMatch DOID:9534 tuberculous pneumothorax semapv:UnspecifiedMatching MONDO:0004813 tuberculous pneumothorax skos:exactMatch MEDGEN:509067 semapv:UnspecifiedMatching MONDO:0004813 tuberculous pneumothorax skos:exactMatch SCTID:29731002 semapv:UnspecifiedMatching MONDO:0004813 tuberculous pneumothorax skos:exactMatch UMLS:C0152600 semapv:UnspecifiedMatching MONDO:0004815 osteosclerotic plasma cell myeloma skos:exactMatch DOID:9541 osteosclerotic myeloma semapv:UnspecifiedMatching MONDO:0004815 osteosclerotic plasma cell myeloma skos:exactMatch MEDGEN:857662 semapv:UnspecifiedMatching MONDO:0004815 osteosclerotic plasma cell myeloma skos:exactMatch NCIT:C7765 Osteosclerotic Multiple Myeloma semapv:UnspecifiedMatching MONDO:0004815 osteosclerotic plasma cell myeloma skos:exactMatch SCTID:425657001 semapv:UnspecifiedMatching MONDO:0004815 osteosclerotic plasma cell myeloma skos:exactMatch UMLS:C3898068 semapv:UnspecifiedMatching MONDO:0004816 refractory plasma cell neoplasm skos:exactMatch DOID:9544 refractory plasma cell neoplasm semapv:UnspecifiedMatching MONDO:0004816 refractory plasma cell neoplasm skos:exactMatch MEDGEN:75844 semapv:UnspecifiedMatching MONDO:0004816 refractory plasma cell neoplasm skos:exactMatch NCIT:C7813 Refractory Plasma Cell Neoplasm semapv:UnspecifiedMatching MONDO:0004816 refractory plasma cell neoplasm skos:exactMatch UMLS:C0278620 semapv:UnspecifiedMatching MONDO:0004817 non-secretory plasma cell myeloma skos:exactMatch DOID:9547 non-secretory myeloma semapv:UnspecifiedMatching MONDO:0004817 non-secretory plasma cell myeloma skos:exactMatch MEDGEN:857719 semapv:UnspecifiedMatching MONDO:0004817 non-secretory plasma cell myeloma skos:exactMatch NCIT:C4734 Non-Secretory Multiple Myeloma semapv:UnspecifiedMatching MONDO:0004817 non-secretory plasma cell myeloma skos:exactMatch SCTID:277580004 semapv:UnspecifiedMatching MONDO:0004817 non-secretory plasma cell myeloma skos:exactMatch UMLS:C3898125 semapv:UnspecifiedMatching MONDO:0004819 indolent plasma cell myeloma skos:exactMatch DOID:9550 indolent plasma cell myeloma semapv:UnspecifiedMatching MONDO:0004819 indolent plasma cell myeloma skos:exactMatch SCTID:441313008 semapv:UnspecifiedMatching MONDO:0004820 peripheral nerve schwannoma skos:exactMatch DOID:956 peripheral nerve schwannoma semapv:UnspecifiedMatching MONDO:0004820 peripheral nerve schwannoma skos:exactMatch MEDGEN:274155 semapv:UnspecifiedMatching MONDO:0004820 peripheral nerve schwannoma skos:exactMatch NCIT:C41430 Peripheral Nerve Schwannoma semapv:UnspecifiedMatching MONDO:0004820 peripheral nerve schwannoma skos:exactMatch UMLS:C1519001 semapv:UnspecifiedMatching MONDO:0004821 nasopharyngeal disorder skos:exactMatch DOID:9561 nasopharyngeal disease semapv:UnspecifiedMatching MONDO:0004821 nasopharyngeal disorder skos:exactMatch MEDGEN:45007 semapv:UnspecifiedMatching MONDO:0004821 nasopharyngeal disorder skos:exactMatch NCIT:C35723 Nasopharyngeal Disorder semapv:UnspecifiedMatching MONDO:0004821 nasopharyngeal disorder skos:exactMatch SCTID:123952009 semapv:UnspecifiedMatching MONDO:0004821 nasopharyngeal disorder skos:exactMatch UMLS:C0027438 semapv:UnspecifiedMatching MONDO:0004821 nasopharyngeal disorder skos:exactMatch mesh:D009302 semapv:UnspecifiedMatching MONDO:0004822 bronchiectasis skos:exactMatch DOID:9563 bronchiectasis semapv:UnspecifiedMatching MONDO:0004822 bronchiectasis skos:exactMatch ICD10CM:J47 Bronchiectasis semapv:UnspecifiedMatching MONDO:0004822 bronchiectasis skos:exactMatch ICD10WHO:J47 Bronchiectasis semapv:UnspecifiedMatching MONDO:0004822 bronchiectasis skos:exactMatch MEDGEN:14234 semapv:UnspecifiedMatching MONDO:0004822 bronchiectasis skos:exactMatch NCIT:C84475 Bronchiectasis semapv:UnspecifiedMatching MONDO:0004822 bronchiectasis skos:exactMatch OMIMPS:211400 Bronchiectasis semapv:UnspecifiedMatching MONDO:0004822 bronchiectasis skos:exactMatch SCTID:12295008 semapv:UnspecifiedMatching MONDO:0004822 bronchiectasis skos:exactMatch UMLS:C0006267 semapv:UnspecifiedMatching MONDO:0004822 bronchiectasis skos:exactMatch icd11.foundation:1935524933 Bronchiectasis semapv:UnspecifiedMatching MONDO:0004822 bronchiectasis skos:exactMatch mesh:D001987 semapv:UnspecifiedMatching MONDO:0004824 neonatal candidiasis skos:exactMatch DOID:9577 neonatal candidiasis semapv:UnspecifiedMatching MONDO:0004824 neonatal candidiasis skos:exactMatch ICD10CM:P37.5 Neonatal candidiasis semapv:UnspecifiedMatching MONDO:0004824 neonatal candidiasis skos:exactMatch MEDGEN:547484 semapv:UnspecifiedMatching MONDO:0004824 neonatal candidiasis skos:exactMatch NCIT:C116810 Neonatal Candidiasis semapv:UnspecifiedMatching MONDO:0004824 neonatal candidiasis skos:exactMatch SCTID:414821002 semapv:UnspecifiedMatching MONDO:0004824 neonatal candidiasis skos:exactMatch UMLS:C0276682 semapv:UnspecifiedMatching MONDO:0004826 urethral calculus skos:exactMatch DOID:9589 urethral calculus semapv:UnspecifiedMatching MONDO:0004826 urethral calculus skos:exactMatch MEDGEN:57664 semapv:UnspecifiedMatching MONDO:0004826 urethral calculus skos:exactMatch SCTID:20342001 semapv:UnspecifiedMatching MONDO:0004826 urethral calculus skos:exactMatch UMLS:C0162301 semapv:UnspecifiedMatching MONDO:0004827 esophagus squamous cell papilloma skos:exactMatch DOID:959 esophagus squamous cell papilloma semapv:UnspecifiedMatching MONDO:0004827 esophagus squamous cell papilloma skos:exactMatch MEDGEN:272592 semapv:UnspecifiedMatching MONDO:0004827 esophagus squamous cell papilloma skos:exactMatch NCIT:C5344 Esophageal Squamous Papilloma semapv:UnspecifiedMatching MONDO:0004827 esophagus squamous cell papilloma skos:exactMatch UMLS:C1333467 semapv:UnspecifiedMatching MONDO:0004827 esophagus squamous cell papilloma skos:exactMatch icd11.foundation:1028052947 Squamous cell papilloma of oesophagus semapv:UnspecifiedMatching MONDO:0004828 lower urinary tract calculus skos:exactMatch DOID:9590 lower urinary tract calculus semapv:UnspecifiedMatching MONDO:0004828 lower urinary tract calculus skos:exactMatch ICD10CM:N21.9 Calculus of lower urinary tract, unspecified semapv:UnspecifiedMatching MONDO:0004828 lower urinary tract calculus skos:exactMatch MEDGEN:510219 semapv:UnspecifiedMatching MONDO:0004828 lower urinary tract calculus skos:exactMatch SCTID:79509009 semapv:UnspecifiedMatching MONDO:0004828 lower urinary tract calculus skos:exactMatch UMLS:C0156264 semapv:UnspecifiedMatching MONDO:0004829 Krukenberg carcinoma skos:exactMatch DOID:9597 Krukenberg carcinoma semapv:UnspecifiedMatching MONDO:0004829 Krukenberg carcinoma skos:exactMatch EFO:1000316 semapv:UnspecifiedMatching MONDO:0004829 Krukenberg carcinoma skos:exactMatch MEDGEN:9652 semapv:UnspecifiedMatching MONDO:0004829 Krukenberg carcinoma skos:exactMatch NCIT:C3153 Krukenberg Tumor semapv:UnspecifiedMatching MONDO:0004829 Krukenberg carcinoma skos:exactMatch SCTID:359987004 semapv:UnspecifiedMatching MONDO:0004829 Krukenberg carcinoma skos:exactMatch UMLS:C0022790 semapv:UnspecifiedMatching MONDO:0004829 Krukenberg carcinoma skos:exactMatch mesh:D007725 semapv:UnspecifiedMatching MONDO:0004830 fasciitis skos:exactMatch DOID:9598 fasciitis semapv:UnspecifiedMatching MONDO:0004830 fasciitis skos:exactMatch MEDGEN:4658 semapv:UnspecifiedMatching MONDO:0004830 fasciitis skos:exactMatch NCIT:C50559 Fasciitis semapv:UnspecifiedMatching MONDO:0004830 fasciitis skos:exactMatch SCTID:36948007 semapv:UnspecifiedMatching MONDO:0004830 fasciitis skos:exactMatch UMLS:C0015645 semapv:UnspecifiedMatching MONDO:0004830 fasciitis skos:exactMatch mesh:D005208 semapv:UnspecifiedMatching MONDO:0004831 proliferative fasciitis skos:exactMatch DOID:9599 proliferative fasciitis semapv:UnspecifiedMatching MONDO:0004831 proliferative fasciitis skos:exactMatch MEDGEN:98496 semapv:UnspecifiedMatching MONDO:0004831 proliferative fasciitis skos:exactMatch NCIT:C4728 Proliferative Fasciitis semapv:UnspecifiedMatching MONDO:0004831 proliferative fasciitis skos:exactMatch SCTID:254737002 semapv:UnspecifiedMatching MONDO:0004831 proliferative fasciitis skos:exactMatch UMLS:C0432528 semapv:UnspecifiedMatching MONDO:0004832 esophagus leiomyoma skos:exactMatch DOID:960 esophagus leiomyoma semapv:UnspecifiedMatching MONDO:0004832 esophagus leiomyoma skos:exactMatch MEDGEN:65947 semapv:UnspecifiedMatching MONDO:0004832 esophagus leiomyoma skos:exactMatch NCIT:C3866 Esophageal Leiomyoma semapv:UnspecifiedMatching MONDO:0004832 esophagus leiomyoma skos:exactMatch SCTID:276805005 semapv:UnspecifiedMatching MONDO:0004832 esophagus leiomyoma skos:exactMatch UMLS:C0238114 semapv:UnspecifiedMatching MONDO:0004832 esophagus leiomyoma skos:exactMatch icd11.foundation:1369242951 Leiomyoma of oesophagus semapv:UnspecifiedMatching MONDO:0004833 plantar fasciitis skos:exactMatch DOID:9600 plantar fasciitis semapv:UnspecifiedMatching MONDO:0004833 plantar fasciitis skos:exactMatch MEDGEN:56201 semapv:UnspecifiedMatching MONDO:0004833 plantar fasciitis skos:exactMatch SCTID:202882003 semapv:UnspecifiedMatching MONDO:0004833 plantar fasciitis skos:exactMatch UMLS:C0149756 semapv:UnspecifiedMatching MONDO:0004833 plantar fasciitis skos:exactMatch icd11.foundation:254630809 Plantar fasciitis semapv:UnspecifiedMatching MONDO:0004833 plantar fasciitis skos:exactMatch mesh:D036981 semapv:UnspecifiedMatching MONDO:0004834 ischemic fasciitis skos:exactMatch DOID:9601 ischemic fasciitis semapv:UnspecifiedMatching MONDO:0004834 ischemic fasciitis skos:exactMatch MEDGEN:220988 semapv:UnspecifiedMatching MONDO:0004834 ischemic fasciitis skos:exactMatch NCIT:C6483 Ischemic Fasciitis semapv:UnspecifiedMatching MONDO:0004834 ischemic fasciitis skos:exactMatch SCTID:403990005 semapv:UnspecifiedMatching MONDO:0004834 ischemic fasciitis skos:exactMatch UMLS:C1304514 semapv:UnspecifiedMatching MONDO:0004835 necrotizing fasciitis skos:exactMatch DOID:9602 necrotizing fasciitis semapv:UnspecifiedMatching MONDO:0004835 necrotizing fasciitis skos:exactMatch ICD10CM:M72.6 Necrotizing fasciitis semapv:UnspecifiedMatching MONDO:0004835 necrotizing fasciitis skos:exactMatch MEDGEN:66763 semapv:UnspecifiedMatching MONDO:0004835 necrotizing fasciitis skos:exactMatch NCIT:C84916 Necrotizing Fasciitis semapv:UnspecifiedMatching MONDO:0004835 necrotizing fasciitis skos:exactMatch Orphanet:699697 Necrotizing fasciitis semapv:UnspecifiedMatching MONDO:0004835 necrotizing fasciitis skos:exactMatch SCTID:52486002 semapv:UnspecifiedMatching MONDO:0004835 necrotizing fasciitis skos:exactMatch UMLS:C0238124 semapv:UnspecifiedMatching MONDO:0004835 necrotizing fasciitis skos:exactMatch mesh:D019115 semapv:UnspecifiedMatching MONDO:0004836 intravascular fasciitis skos:exactMatch DOID:9603 intravascular fasciitis semapv:UnspecifiedMatching MONDO:0004836 intravascular fasciitis skos:exactMatch MEDGEN:140942 semapv:UnspecifiedMatching MONDO:0004836 intravascular fasciitis skos:exactMatch NCIT:C4729 Intravascular Nodular Fasciitis semapv:UnspecifiedMatching MONDO:0004836 intravascular fasciitis skos:exactMatch SCTID:254738007 semapv:UnspecifiedMatching MONDO:0004836 intravascular fasciitis skos:exactMatch UMLS:C0432529 semapv:UnspecifiedMatching MONDO:0004837 neurofibroma of the esophagus skos:exactMatch DOID:961 neurofibroma of the esophagus semapv:UnspecifiedMatching MONDO:0004837 neurofibroma of the esophagus skos:exactMatch MEDGEN:232164 semapv:UnspecifiedMatching MONDO:0004837 neurofibroma of the esophagus skos:exactMatch NCIT:C5704 Esophageal Neurofibroma semapv:UnspecifiedMatching MONDO:0004837 neurofibroma of the esophagus skos:exactMatch UMLS:C1333463 semapv:UnspecifiedMatching MONDO:0004838 orthostatic proteinuria skos:exactMatch DOID:9617 orthostatic proteinuria semapv:UnspecifiedMatching MONDO:0004838 orthostatic proteinuria skos:exactMatch MEDGEN:534880 semapv:UnspecifiedMatching MONDO:0004838 orthostatic proteinuria skos:exactMatch UMLS:C0232867 semapv:UnspecifiedMatching MONDO:0004838 orthostatic proteinuria skos:exactMatch icd11.foundation:2144070055 Orthostatic proteinuria semapv:UnspecifiedMatching MONDO:0004840 non-congenital cyst of kidney skos:exactMatch DOID:9621 non-congenital cyst of kidney semapv:UnspecifiedMatching MONDO:0004840 non-congenital cyst of kidney skos:exactMatch MEDGEN:541491 semapv:UnspecifiedMatching MONDO:0004840 non-congenital cyst of kidney skos:exactMatch SCTID:105999006 semapv:UnspecifiedMatching MONDO:0004840 non-congenital cyst of kidney skos:exactMatch UMLS:C0268799 semapv:UnspecifiedMatching MONDO:0004841 kidney hypertrophy skos:exactMatch DOID:9622 kidney hypertrophy semapv:UnspecifiedMatching MONDO:0004841 kidney hypertrophy skos:exactMatch ICD10CM:N28.81 Hypertrophy of kidney semapv:UnspecifiedMatching MONDO:0004841 kidney hypertrophy skos:exactMatch MEDGEN:510218 semapv:UnspecifiedMatching MONDO:0004841 kidney hypertrophy skos:exactMatch NCIT:C122991 Renal Hypertrophy semapv:UnspecifiedMatching MONDO:0004841 kidney hypertrophy skos:exactMatch SCTID:88531004 semapv:UnspecifiedMatching MONDO:0004841 kidney hypertrophy skos:exactMatch UMLS:C0156259 semapv:UnspecifiedMatching MONDO:0004842 stomatitis skos:exactMatch DOID:9637 stomatitis semapv:UnspecifiedMatching MONDO:0004842 stomatitis skos:exactMatch EFO:0009688 semapv:UnspecifiedMatching MONDO:0004842 stomatitis skos:exactMatch MEDGEN:52511 semapv:UnspecifiedMatching MONDO:0004842 stomatitis skos:exactMatch NCIT:C26887 Stomatitis semapv:UnspecifiedMatching MONDO:0004842 stomatitis skos:exactMatch SCTID:61170000 semapv:UnspecifiedMatching MONDO:0004842 stomatitis skos:exactMatch UMLS:C0038362 semapv:UnspecifiedMatching MONDO:0004842 stomatitis skos:exactMatch mesh:D013280 semapv:UnspecifiedMatching MONDO:0004843 pathologic nystagmus skos:exactMatch DOID:9650 pathologic nystagmus semapv:UnspecifiedMatching MONDO:0004843 pathologic nystagmus skos:exactMatch MEDGEN:45166 semapv:UnspecifiedMatching MONDO:0004843 pathologic nystagmus skos:exactMatch UMLS:C0028738 semapv:UnspecifiedMatching MONDO:0004843 pathologic nystagmus skos:exactMatch mesh:D009759 semapv:UnspecifiedMatching MONDO:0004844 oral mucosa leukoplakia skos:exactMatch DOID:9655 oral mucosa leukoplakia semapv:UnspecifiedMatching MONDO:0004844 oral mucosa leukoplakia skos:exactMatch MEDGEN:9738 semapv:UnspecifiedMatching MONDO:0004844 oral mucosa leukoplakia skos:exactMatch NCIT:C3187 Oral Leukoplakia semapv:UnspecifiedMatching MONDO:0004844 oral mucosa leukoplakia skos:exactMatch SCTID:414603003 semapv:UnspecifiedMatching MONDO:0004844 oral mucosa leukoplakia skos:exactMatch UMLS:C0023532 semapv:UnspecifiedMatching MONDO:0004844 oral mucosa leukoplakia skos:exactMatch icd11.foundation:417308277 Oral leukoplakia semapv:UnspecifiedMatching MONDO:0004844 oral mucosa leukoplakia skos:exactMatch mesh:D007972 semapv:UnspecifiedMatching MONDO:0004845 aphthous stomatitis skos:exactMatch DOID:9663 aphthous stomatitis semapv:UnspecifiedMatching MONDO:0004845 aphthous stomatitis skos:exactMatch ICD10CM:K12.0 Recurrent oral aphthae semapv:UnspecifiedMatching MONDO:0004845 aphthous stomatitis skos:exactMatch MEDGEN:20959 semapv:UnspecifiedMatching MONDO:0004845 aphthous stomatitis skos:exactMatch UMLS:C0038363 semapv:UnspecifiedMatching MONDO:0004846 placental abruption skos:exactMatch DOID:9667 placental abruption semapv:UnspecifiedMatching MONDO:0004846 placental abruption skos:exactMatch EFO:1001754 semapv:UnspecifiedMatching MONDO:0004846 placental abruption skos:exactMatch ICD10CM:O45 Premature separation of placenta [abruptio placentae] semapv:UnspecifiedMatching MONDO:0004846 placental abruption skos:exactMatch MEDGEN:49 semapv:UnspecifiedMatching MONDO:0004846 placental abruption skos:exactMatch NCIT:C26685 Placental Abruption semapv:UnspecifiedMatching MONDO:0004846 placental abruption skos:exactMatch SCTID:415105001 semapv:UnspecifiedMatching MONDO:0004846 placental abruption skos:exactMatch UMLS:C0000832 semapv:UnspecifiedMatching MONDO:0004846 placental abruption skos:exactMatch mesh:D000037 semapv:UnspecifiedMatching MONDO:0004847 senile cataract skos:exactMatch DOID:9669 senile cataract semapv:UnspecifiedMatching MONDO:0004847 senile cataract skos:exactMatch ICD10CM:H25 Age-related cataract semapv:UnspecifiedMatching MONDO:0004847 senile cataract skos:exactMatch ICD10WHO:H25 Senile cataract semapv:UnspecifiedMatching MONDO:0004847 senile cataract skos:exactMatch MEDGEN:11372 semapv:UnspecifiedMatching MONDO:0004847 senile cataract skos:exactMatch NCIT:C35012 Senile Cataract semapv:UnspecifiedMatching MONDO:0004847 senile cataract skos:exactMatch SCTID:39450006 semapv:UnspecifiedMatching MONDO:0004847 senile cataract skos:exactMatch UMLS:C0036646 semapv:UnspecifiedMatching MONDO:0004848 ulcerative stomatitis skos:exactMatch DOID:9673 ulcerative stomatitis semapv:UnspecifiedMatching MONDO:0004848 ulcerative stomatitis skos:exactMatch MEDGEN:21335 semapv:UnspecifiedMatching MONDO:0004848 ulcerative stomatitis skos:exactMatch NCIT:C35039 Ulcerative Stomatitis semapv:UnspecifiedMatching MONDO:0004848 ulcerative stomatitis skos:exactMatch SCTID:450005 semapv:UnspecifiedMatching MONDO:0004848 ulcerative stomatitis skos:exactMatch UMLS:C0038367 semapv:UnspecifiedMatching MONDO:0004849 pulmonary emphysema skos:exactMatch DOID:9675 pulmonary emphysema semapv:UnspecifiedMatching MONDO:0004849 pulmonary emphysema skos:exactMatch EFO:0000464 semapv:UnspecifiedMatching MONDO:0004849 pulmonary emphysema skos:exactMatch ICD10CM:J43 Emphysema semapv:UnspecifiedMatching MONDO:0004849 pulmonary emphysema skos:exactMatch MEDGEN:18764 semapv:UnspecifiedMatching MONDO:0004849 pulmonary emphysema skos:exactMatch NCIT:C3348 Pulmonary Emphysema semapv:UnspecifiedMatching MONDO:0004849 pulmonary emphysema skos:exactMatch SCTID:87433001 semapv:UnspecifiedMatching MONDO:0004849 pulmonary emphysema skos:exactMatch UMLS:C0034067 semapv:UnspecifiedMatching MONDO:0004849 pulmonary emphysema skos:exactMatch mesh:D004646 semapv:UnspecifiedMatching MONDO:0004849 pulmonary emphysema skos:exactMatch mesh:D011656 semapv:UnspecifiedMatching MONDO:0004851 toxic myocarditis skos:exactMatch DOID:9694 toxic myocarditis semapv:UnspecifiedMatching MONDO:0004851 toxic myocarditis skos:exactMatch MEDGEN:510049 semapv:UnspecifiedMatching MONDO:0004851 toxic myocarditis skos:exactMatch SCTID:31993003 semapv:UnspecifiedMatching MONDO:0004851 toxic myocarditis skos:exactMatch UMLS:C0155691 semapv:UnspecifiedMatching MONDO:0004852 gonococcal keratitis skos:exactMatch DOID:9697 gonococcal keratitis semapv:UnspecifiedMatching MONDO:0004852 gonococcal keratitis skos:exactMatch ICD10CM:A54.33 Gonococcal keratitis semapv:UnspecifiedMatching MONDO:0004852 gonococcal keratitis skos:exactMatch MEDGEN:509209 semapv:UnspecifiedMatching MONDO:0004852 gonococcal keratitis skos:exactMatch SCTID:40149008 semapv:UnspecifiedMatching MONDO:0004852 gonococcal keratitis skos:exactMatch UMLS:C0153214 semapv:UnspecifiedMatching MONDO:0004852 gonococcal keratitis skos:exactMatch icd11.foundation:200847304 Gonococcal keratitis semapv:UnspecifiedMatching MONDO:0004853 gonococcal endophthalmia skos:exactMatch DOID:9698 gonococcal endophthalmia semapv:UnspecifiedMatching MONDO:0004853 gonococcal endophthalmia skos:exactMatch MEDGEN:509208 semapv:UnspecifiedMatching MONDO:0004853 gonococcal endophthalmia skos:exactMatch SCTID:111807001 semapv:UnspecifiedMatching MONDO:0004853 gonococcal endophthalmia skos:exactMatch UMLS:C0153213 semapv:UnspecifiedMatching MONDO:0004854 ophthalmia neonatorum skos:exactMatch DOID:9699 ophthalmia neonatorum semapv:UnspecifiedMatching MONDO:0004854 ophthalmia neonatorum skos:exactMatch MEDGEN:14489 semapv:UnspecifiedMatching MONDO:0004854 ophthalmia neonatorum skos:exactMatch NCIT:C116815 Ophthalmia Neonatorum semapv:UnspecifiedMatching MONDO:0004854 ophthalmia neonatorum skos:exactMatch SCTID:34298002 semapv:UnspecifiedMatching MONDO:0004854 ophthalmia neonatorum skos:exactMatch UMLS:C0029076 semapv:UnspecifiedMatching MONDO:0004854 ophthalmia neonatorum skos:exactMatch mesh:D009878 semapv:UnspecifiedMatching MONDO:0004855 tenosynovitis skos:exactMatch DOID:970 tenosynovitis semapv:UnspecifiedMatching MONDO:0004855 tenosynovitis skos:exactMatch EFO:1001435 semapv:UnspecifiedMatching MONDO:0004855 tenosynovitis skos:exactMatch MEDGEN:52670 semapv:UnspecifiedMatching MONDO:0004855 tenosynovitis skos:exactMatch SCTID:67801009 semapv:UnspecifiedMatching MONDO:0004855 tenosynovitis skos:exactMatch UMLS:C0039520 semapv:UnspecifiedMatching MONDO:0004855 tenosynovitis skos:exactMatch icd11.foundation:163006370 Tenosynovitis semapv:UnspecifiedMatching MONDO:0004855 tenosynovitis skos:exactMatch mesh:D013717 semapv:UnspecifiedMatching MONDO:0004856 rosacea conjunctivitis skos:exactMatch DOID:9709 rosacea conjunctivitis semapv:UnspecifiedMatching MONDO:0004856 rosacea conjunctivitis skos:exactMatch ICD10CM:H10.82 Rosacea conjunctivitis semapv:UnspecifiedMatching MONDO:0004856 rosacea conjunctivitis skos:exactMatch MEDGEN:509812 semapv:UnspecifiedMatching MONDO:0004856 rosacea conjunctivitis skos:exactMatch SCTID:10128002 semapv:UnspecifiedMatching MONDO:0004856 rosacea conjunctivitis skos:exactMatch UMLS:C0155152 semapv:UnspecifiedMatching MONDO:0004857 tendinitis skos:exactMatch DOID:971 tendinitis semapv:UnspecifiedMatching MONDO:0004857 tendinitis skos:exactMatch MEDGEN:21094 semapv:UnspecifiedMatching MONDO:0004857 tendinitis skos:exactMatch NCIT:C97141 Tendonitis semapv:UnspecifiedMatching MONDO:0004857 tendinitis skos:exactMatch SCTID:34840004 semapv:UnspecifiedMatching MONDO:0004857 tendinitis skos:exactMatch UMLS:C0039503 semapv:UnspecifiedMatching MONDO:0004858 occlusion of gallbladder skos:exactMatch DOID:9714 occlusion of gallbladder semapv:UnspecifiedMatching MONDO:0004858 occlusion of gallbladder skos:exactMatch ICD10CM:K82.0 Obstruction of gallbladder semapv:UnspecifiedMatching MONDO:0004858 occlusion of gallbladder skos:exactMatch MEDGEN:57845 semapv:UnspecifiedMatching MONDO:0004858 occlusion of gallbladder skos:exactMatch SCTID:197416005 semapv:UnspecifiedMatching MONDO:0004858 occlusion of gallbladder skos:exactMatch UMLS:C0156214 semapv:UnspecifiedMatching MONDO:0004858 occlusion of gallbladder skos:exactMatch icd11.foundation:1945915335 Occlusion of gallbladder semapv:UnspecifiedMatching MONDO:0004859 hydrops of gallbladder skos:exactMatch DOID:9717 hydrops of gallbladder semapv:UnspecifiedMatching MONDO:0004859 hydrops of gallbladder skos:exactMatch ICD10CM:K82.1 Hydrops of gallbladder semapv:UnspecifiedMatching MONDO:0004859 hydrops of gallbladder skos:exactMatch MEDGEN:509035 semapv:UnspecifiedMatching MONDO:0004859 hydrops of gallbladder skos:exactMatch SCTID:47312008 semapv:UnspecifiedMatching MONDO:0004859 hydrops of gallbladder skos:exactMatch UMLS:C0152445 semapv:UnspecifiedMatching MONDO:0004859 hydrops of gallbladder skos:exactMatch icd11.foundation:532595534 Hydrops of gallbladder semapv:UnspecifiedMatching MONDO:0004860 vitreous disorder skos:exactMatch DOID:9720 vitreous disease semapv:UnspecifiedMatching MONDO:0004860 vitreous disorder skos:exactMatch MEDGEN:1843447 semapv:UnspecifiedMatching MONDO:0004860 vitreous disorder skos:exactMatch UMLS:C0700141 semapv:UnspecifiedMatching MONDO:0004861 ophthalmia nodosa skos:exactMatch DOID:9722 ophthalmia nodosa semapv:UnspecifiedMatching MONDO:0004861 ophthalmia nodosa skos:exactMatch ICD10CM:H16.24 Ophthalmia nodosa semapv:UnspecifiedMatching MONDO:0004861 ophthalmia nodosa skos:exactMatch MEDGEN:509654 semapv:UnspecifiedMatching MONDO:0004861 ophthalmia nodosa skos:exactMatch SCTID:12371008 semapv:UnspecifiedMatching MONDO:0004861 ophthalmia nodosa skos:exactMatch UMLS:C0154775 semapv:UnspecifiedMatching MONDO:0004861 ophthalmia nodosa skos:exactMatch icd11.foundation:691596189 Ophthalmia nodosa semapv:UnspecifiedMatching MONDO:0004862 vitreous abscess skos:exactMatch DOID:9723 vitreous abscess semapv:UnspecifiedMatching MONDO:0004862 vitreous abscess skos:exactMatch MEDGEN:508292 semapv:UnspecifiedMatching MONDO:0004862 vitreous abscess skos:exactMatch SCTID:48142003 semapv:UnspecifiedMatching MONDO:0004862 vitreous abscess skos:exactMatch UMLS:C0042904 semapv:UnspecifiedMatching MONDO:0004862 vitreous abscess skos:exactMatch icd11.foundation:1185507932 Vitreous abscess semapv:UnspecifiedMatching MONDO:0004863 purulent endophthalmitis skos:exactMatch DOID:9724 purulent endophthalmitis semapv:UnspecifiedMatching MONDO:0004863 purulent endophthalmitis skos:exactMatch ICD10CM:H44.0 Purulent endophthalmitis semapv:UnspecifiedMatching MONDO:0004863 purulent endophthalmitis skos:exactMatch MEDGEN:537163 semapv:UnspecifiedMatching MONDO:0004863 purulent endophthalmitis skos:exactMatch SCTID:41720003 semapv:UnspecifiedMatching MONDO:0004863 purulent endophthalmitis skos:exactMatch UMLS:C0259800 semapv:UnspecifiedMatching MONDO:0004863 purulent endophthalmitis skos:exactMatch icd11.foundation:830703931 Purulent endophthalmitis semapv:UnspecifiedMatching MONDO:0004864 acute allergic mucoid otitis media skos:exactMatch DOID:9735 acute allergic mucoid otitis media semapv:UnspecifiedMatching MONDO:0004864 acute allergic mucoid otitis media skos:exactMatch MEDGEN:509957 semapv:UnspecifiedMatching MONDO:0004864 acute allergic mucoid otitis media skos:exactMatch SCTID:8326008 semapv:UnspecifiedMatching MONDO:0004864 acute allergic mucoid otitis media skos:exactMatch UMLS:C0155419 semapv:UnspecifiedMatching MONDO:0004865 blue drum syndrome skos:exactMatch DOID:9736 blue drum syndrome semapv:UnspecifiedMatching MONDO:0004865 blue drum syndrome skos:exactMatch MEDGEN:583099 semapv:UnspecifiedMatching MONDO:0004865 blue drum syndrome skos:exactMatch SCTID:52353000 semapv:UnspecifiedMatching MONDO:0004865 blue drum syndrome skos:exactMatch UMLS:C0395863 semapv:UnspecifiedMatching MONDO:0004866 eustachian tube disorder skos:exactMatch DOID:9739 eustachian tube disease semapv:UnspecifiedMatching MONDO:0004866 eustachian tube disorder skos:exactMatch EFO:0009667 semapv:UnspecifiedMatching MONDO:0004866 eustachian tube disorder skos:exactMatch ICD10CM:H68 Eustachian salpingitis and obstruction semapv:UnspecifiedMatching MONDO:0004866 eustachian tube disorder skos:exactMatch MEDGEN:543364 semapv:UnspecifiedMatching MONDO:0004866 eustachian tube disorder skos:exactMatch SCTID:69494008 semapv:UnspecifiedMatching MONDO:0004866 eustachian tube disorder skos:exactMatch UMLS:C0271468 semapv:UnspecifiedMatching MONDO:0004867 upper respiratory tract disorder skos:exactMatch DOID:974 upper respiratory tract disease semapv:UnspecifiedMatching MONDO:0004867 upper respiratory tract disorder skos:exactMatch MEDGEN:538406 semapv:UnspecifiedMatching MONDO:0004867 upper respiratory tract disorder skos:exactMatch SCTID:201060008 semapv:UnspecifiedMatching MONDO:0004867 upper respiratory tract disorder skos:exactMatch UMLS:C0264221 semapv:UnspecifiedMatching MONDO:0004868 biliary tract disorder skos:exactMatch DOID:9741 biliary tract disease semapv:UnspecifiedMatching MONDO:0004868 biliary tract disorder skos:exactMatch EFO:0009534 semapv:UnspecifiedMatching MONDO:0004868 biliary tract disorder skos:exactMatch MEDGEN:108201 semapv:UnspecifiedMatching MONDO:0004868 biliary tract disorder skos:exactMatch SCTID:105997008 semapv:UnspecifiedMatching MONDO:0004868 biliary tract disorder skos:exactMatch UMLS:C0549613 semapv:UnspecifiedMatching MONDO:0004868 biliary tract disorder skos:exactMatch mesh:D001660 semapv:UnspecifiedMatching MONDO:0004869 pelvic varices skos:exactMatch DOID:9742 pelvic varices semapv:UnspecifiedMatching MONDO:0004869 pelvic varices skos:exactMatch ICD10CM:I86.2 Pelvic varices semapv:UnspecifiedMatching MONDO:0004869 pelvic varices skos:exactMatch MEDGEN:510082 semapv:UnspecifiedMatching MONDO:0004869 pelvic varices skos:exactMatch SCTID:17406005 semapv:UnspecifiedMatching MONDO:0004869 pelvic varices skos:exactMatch UMLS:C0155795 semapv:UnspecifiedMatching MONDO:0004869 pelvic varices skos:exactMatch icd11.foundation:1717989511 Pelvic varices semapv:UnspecifiedMatching MONDO:0004871 perianal hematoma skos:exactMatch DOID:9745 perianal hematoma semapv:UnspecifiedMatching MONDO:0004871 perianal hematoma skos:exactMatch MEDGEN:510079 semapv:UnspecifiedMatching MONDO:0004871 perianal hematoma skos:exactMatch SCTID:26373009 semapv:UnspecifiedMatching MONDO:0004871 perianal hematoma skos:exactMatch UMLS:C0155784 semapv:UnspecifiedMatching MONDO:0004872 hemorrhoid skos:exactMatch DOID:9746 hemorrhoid semapv:UnspecifiedMatching MONDO:0004872 hemorrhoid skos:exactMatch EFO:0009552 semapv:UnspecifiedMatching MONDO:0004872 hemorrhoid skos:exactMatch MEDGEN:5507 semapv:UnspecifiedMatching MONDO:0004872 hemorrhoid skos:exactMatch NCIT:C26792 Hemorrhoid semapv:UnspecifiedMatching MONDO:0004872 hemorrhoid skos:exactMatch SCTID:70153002 semapv:UnspecifiedMatching MONDO:0004872 hemorrhoid skos:exactMatch UMLS:C0019112 semapv:UnspecifiedMatching MONDO:0004872 hemorrhoid skos:exactMatch icd11.foundation:1352501137 Haemorrhoids semapv:UnspecifiedMatching MONDO:0004872 hemorrhoid skos:exactMatch mesh:D006484 semapv:UnspecifiedMatching MONDO:0004873 internal hemorrhoid skos:exactMatch DOID:9749 internal hemorrhoid semapv:UnspecifiedMatching MONDO:0004873 internal hemorrhoid skos:exactMatch MEDGEN:75549 semapv:UnspecifiedMatching MONDO:0004873 internal hemorrhoid skos:exactMatch NCIT:C35319 Internal Hemorrhoid semapv:UnspecifiedMatching MONDO:0004873 internal hemorrhoid skos:exactMatch SCTID:90458007 semapv:UnspecifiedMatching MONDO:0004873 internal hemorrhoid skos:exactMatch UMLS:C0265034 semapv:UnspecifiedMatching MONDO:0004874 ganglion or cyst of synovium/tendon/bursa skos:exactMatch DOID:9754 ganglion or cyst of synovium/tendon/bursa semapv:UnspecifiedMatching MONDO:0004874 ganglion or cyst of synovium/tendon/bursa skos:exactMatch MEDGEN:578881 semapv:UnspecifiedMatching MONDO:0004874 ganglion or cyst of synovium/tendon/bursa skos:exactMatch UMLS:C0349693 semapv:UnspecifiedMatching MONDO:0004875 xanthogranulomatous cholecystitis skos:exactMatch DOID:9766 xanthogranulomatous cholecystitis semapv:UnspecifiedMatching MONDO:0004875 xanthogranulomatous cholecystitis skos:exactMatch MEDGEN:235004 semapv:UnspecifiedMatching MONDO:0004875 xanthogranulomatous cholecystitis skos:exactMatch NCIT:C35792 Xanthogranulomatous Cholecystitis semapv:UnspecifiedMatching MONDO:0004875 xanthogranulomatous cholecystitis skos:exactMatch SCTID:448286002 semapv:UnspecifiedMatching MONDO:0004875 xanthogranulomatous cholecystitis skos:exactMatch UMLS:C1337035 semapv:UnspecifiedMatching MONDO:0004875 xanthogranulomatous cholecystitis skos:exactMatch icd11.foundation:294033251 Xanthogranulomatous cholecystitis semapv:UnspecifiedMatching MONDO:0004875 xanthogranulomatous cholecystitis skos:exactMatch mesh:C536762 semapv:UnspecifiedMatching MONDO:0004876 myocardial stunning skos:exactMatch DOID:9767 myocardial stunning semapv:UnspecifiedMatching MONDO:0004876 myocardial stunning skos:exactMatch MEDGEN:61526 semapv:UnspecifiedMatching MONDO:0004876 myocardial stunning skos:exactMatch UMLS:C0206146 semapv:UnspecifiedMatching MONDO:0004876 myocardial stunning skos:exactMatch mesh:D017682 semapv:UnspecifiedMatching MONDO:0004877 transient neonatal thrombocytopenia skos:exactMatch DOID:9771 transient neonatal thrombocytopenia semapv:UnspecifiedMatching MONDO:0004877 transient neonatal thrombocytopenia skos:exactMatch ICD10CM:P61.0 Transient neonatal thrombocytopenia semapv:UnspecifiedMatching MONDO:0004877 transient neonatal thrombocytopenia skos:exactMatch MEDGEN:472906 semapv:UnspecifiedMatching MONDO:0004877 transient neonatal thrombocytopenia skos:exactMatch SCTID:23205009 semapv:UnspecifiedMatching MONDO:0004877 transient neonatal thrombocytopenia skos:exactMatch UMLS:C0158991 semapv:UnspecifiedMatching MONDO:0004878 female breast upper-outer quadrant cancer skos:exactMatch DOID:9773 female breast upper-outer quadrant cancer semapv:UnspecifiedMatching MONDO:0004878 female breast upper-outer quadrant cancer skos:exactMatch MEDGEN:509326 semapv:UnspecifiedMatching MONDO:0004878 female breast upper-outer quadrant cancer skos:exactMatch SCTID:188154003 semapv:UnspecifiedMatching MONDO:0004878 female breast upper-outer quadrant cancer skos:exactMatch UMLS:C0153552 semapv:UnspecifiedMatching MONDO:0004879 senile atrophy of choroid skos:exactMatch DOID:9776 Senile atrophy of choroid semapv:UnspecifiedMatching MONDO:0004879 senile atrophy of choroid skos:exactMatch MEDGEN:509701 semapv:UnspecifiedMatching MONDO:0004879 senile atrophy of choroid skos:exactMatch SCTID:38513001 semapv:UnspecifiedMatching MONDO:0004879 senile atrophy of choroid skos:exactMatch UMLS:C0154891 semapv:UnspecifiedMatching MONDO:0004880 bowel dysfunction skos:exactMatch DOID:9779 bowel dysfunction semapv:UnspecifiedMatching MONDO:0004880 bowel dysfunction skos:exactMatch MEDGEN:384468 semapv:UnspecifiedMatching MONDO:0004880 bowel dysfunction skos:exactMatch SCTID:235594008 semapv:UnspecifiedMatching MONDO:0004880 bowel dysfunction skos:exactMatch UMLS:C2004461 semapv:UnspecifiedMatching MONDO:0004881 myositis fibrosa skos:exactMatch DOID:9788 myositis fibrosa semapv:UnspecifiedMatching MONDO:0004881 myositis fibrosa skos:exactMatch ICD10CM:M60.1 Interstitial myositis semapv:UnspecifiedMatching MONDO:0004881 myositis fibrosa skos:exactMatch MEDGEN:57855 semapv:UnspecifiedMatching MONDO:0004881 myositis fibrosa skos:exactMatch NCIT:C26985 Interstitial Myositis semapv:UnspecifiedMatching MONDO:0004881 myositis fibrosa skos:exactMatch SCTID:55925001 semapv:UnspecifiedMatching MONDO:0004881 myositis fibrosa skos:exactMatch UMLS:C0158362 semapv:UnspecifiedMatching MONDO:0004882 angioid streaks of choroid skos:exactMatch DOID:979 angioid streaks of choroid semapv:UnspecifiedMatching MONDO:0004882 angioid streaks of choroid skos:exactMatch MEDGEN:507444 semapv:UnspecifiedMatching MONDO:0004882 angioid streaks of choroid skos:exactMatch SCTID:86103006 semapv:UnspecifiedMatching MONDO:0004882 angioid streaks of choroid skos:exactMatch UMLS:C0002983 semapv:UnspecifiedMatching MONDO:0004883 hereditary choroidal atrophy skos:exactMatch DOID:9794 hereditary choroidal atrophy semapv:UnspecifiedMatching MONDO:0004883 hereditary choroidal atrophy skos:exactMatch MEDGEN:509703 semapv:UnspecifiedMatching MONDO:0004883 hereditary choroidal atrophy skos:exactMatch SCTID:74469006 semapv:UnspecifiedMatching MONDO:0004883 hereditary choroidal atrophy skos:exactMatch UMLS:C0154893 semapv:UnspecifiedMatching MONDO:0004884 eye degenerative disorder skos:exactMatch DOID:9799 eye degenerative disease semapv:UnspecifiedMatching MONDO:0004884 eye degenerative disorder skos:exactMatch ICD10CM:H44.5 Degenerated conditions of globe semapv:UnspecifiedMatching MONDO:0004884 eye degenerative disorder skos:exactMatch MEDGEN:509655 semapv:UnspecifiedMatching MONDO:0004884 eye degenerative disorder skos:exactMatch SCTID:62585004 semapv:UnspecifiedMatching MONDO:0004884 eye degenerative disorder skos:exactMatch UMLS:C0154777 semapv:UnspecifiedMatching MONDO:0004885 choroidal sclerosis skos:exactMatch DOID:980 choroidal sclerosis semapv:UnspecifiedMatching MONDO:0004885 choroidal sclerosis skos:exactMatch MEDGEN:137998 semapv:UnspecifiedMatching MONDO:0004885 choroidal sclerosis skos:exactMatch SCTID:406446000 semapv:UnspecifiedMatching MONDO:0004885 choroidal sclerosis skos:exactMatch UMLS:C0344297 semapv:UnspecifiedMatching MONDO:0004885 choroidal sclerosis skos:exactMatch mesh:C535358 semapv:UnspecifiedMatching MONDO:0004886 diffuse secondary choroid atrophy skos:exactMatch DOID:981 diffuse secondary choroid atrophy semapv:UnspecifiedMatching MONDO:0004886 diffuse secondary choroid atrophy skos:exactMatch MEDGEN:509702 semapv:UnspecifiedMatching MONDO:0004886 diffuse secondary choroid atrophy skos:exactMatch SCTID:193463006 semapv:UnspecifiedMatching MONDO:0004886 diffuse secondary choroid atrophy skos:exactMatch UMLS:C0154892 semapv:UnspecifiedMatching MONDO:0004888 partial circumpapillary choroid dystrophy skos:exactMatch DOID:9811 partial circumpapillary choroid dystrophy semapv:UnspecifiedMatching MONDO:0004888 partial circumpapillary choroid dystrophy skos:exactMatch MEDGEN:509704 semapv:UnspecifiedMatching MONDO:0004888 partial circumpapillary choroid dystrophy skos:exactMatch SCTID:193466003 semapv:UnspecifiedMatching MONDO:0004888 partial circumpapillary choroid dystrophy skos:exactMatch UMLS:C0154895 semapv:UnspecifiedMatching MONDO:0004889 total central choroidal atrophy skos:exactMatch DOID:9820 central gyrate choroidal dystrophy semapv:UnspecifiedMatching MONDO:0004889 total central choroidal atrophy skos:exactMatch MEDGEN:509706 semapv:UnspecifiedMatching MONDO:0004889 total central choroidal atrophy skos:exactMatch SCTID:392049002 semapv:UnspecifiedMatching MONDO:0004889 total central choroidal atrophy skos:exactMatch UMLS:C0154898 semapv:UnspecifiedMatching MONDO:0004890 partial central choroid dystrophy skos:exactMatch DOID:9822 partial central choroid dystrophy semapv:UnspecifiedMatching MONDO:0004890 partial central choroid dystrophy skos:exactMatch MEDGEN:573145 semapv:UnspecifiedMatching MONDO:0004890 partial central choroid dystrophy skos:exactMatch SCTID:193468002 semapv:UnspecifiedMatching MONDO:0004890 partial central choroid dystrophy skos:exactMatch UMLS:C0339427 semapv:UnspecifiedMatching MONDO:0004891 hyperopia skos:exactMatch DOID:9834 hyperopia semapv:UnspecifiedMatching MONDO:0004891 hyperopia skos:exactMatch ICD10CM:H52.0 Hypermetropia semapv:UnspecifiedMatching MONDO:0004891 hyperopia skos:exactMatch MEDGEN:43780 semapv:UnspecifiedMatching MONDO:0004891 hyperopia skos:exactMatch SCTID:38101003 semapv:UnspecifiedMatching MONDO:0004891 hyperopia skos:exactMatch UMLS:C0020490 semapv:UnspecifiedMatching MONDO:0004891 hyperopia skos:exactMatch mesh:D006956 semapv:UnspecifiedMatching MONDO:0004892 refractive error skos:exactMatch DOID:9835 refractive error semapv:UnspecifiedMatching MONDO:0004892 refractive error skos:exactMatch MEDGEN:20508 semapv:UnspecifiedMatching MONDO:0004892 refractive error skos:exactMatch SCTID:39021009 semapv:UnspecifiedMatching MONDO:0004892 refractive error skos:exactMatch UMLS:C0034951 semapv:UnspecifiedMatching MONDO:0004892 refractive error skos:exactMatch mesh:D012030 semapv:UnspecifiedMatching MONDO:0004893 hypertropia skos:exactMatch DOID:9837 hypertropia semapv:UnspecifiedMatching MONDO:0004893 hypertropia skos:exactMatch MEDGEN:43790 semapv:UnspecifiedMatching MONDO:0004893 hypertropia skos:exactMatch NCIT:C34716 Hypertropia semapv:UnspecifiedMatching MONDO:0004893 hypertropia skos:exactMatch SCTID:40608009 semapv:UnspecifiedMatching MONDO:0004893 hypertropia skos:exactMatch UMLS:C0020575 semapv:UnspecifiedMatching MONDO:0004893 hypertropia skos:exactMatch icd11.foundation:1382376000 Hypertropia semapv:UnspecifiedMatching MONDO:0004894 cyclotropia skos:exactMatch DOID:9838 cyclotropia semapv:UnspecifiedMatching MONDO:0004894 cyclotropia skos:exactMatch ICD10CM:H50.41 Cyclotropia semapv:UnspecifiedMatching MONDO:0004894 cyclotropia skos:exactMatch MEDGEN:508927 semapv:UnspecifiedMatching MONDO:0004894 cyclotropia skos:exactMatch SCTID:70486007 semapv:UnspecifiedMatching MONDO:0004894 cyclotropia skos:exactMatch UMLS:C0152209 semapv:UnspecifiedMatching MONDO:0004894 cyclotropia skos:exactMatch icd11.foundation:1259996412 Cyclotropia semapv:UnspecifiedMatching MONDO:0004895 accommodative esotropia skos:exactMatch DOID:9839 accommodative esotropia semapv:UnspecifiedMatching MONDO:0004895 accommodative esotropia skos:exactMatch MEDGEN:102331 semapv:UnspecifiedMatching MONDO:0004895 accommodative esotropia skos:exactMatch SCTID:419494007 semapv:UnspecifiedMatching MONDO:0004895 accommodative esotropia skos:exactMatch UMLS:C0155336 semapv:UnspecifiedMatching MONDO:0004895 accommodative esotropia skos:exactMatch icd11.foundation:1512812109 Accommodative esotropia semapv:UnspecifiedMatching MONDO:0004896 esotropia skos:exactMatch DOID:9840 esotropia semapv:UnspecifiedMatching MONDO:0004896 esotropia skos:exactMatch ICD10CM:H50.0 Esotropia semapv:UnspecifiedMatching MONDO:0004896 esotropia skos:exactMatch MEDGEN:4550 semapv:UnspecifiedMatching MONDO:0004896 esotropia skos:exactMatch NCIT:C34596 Internal Strabismus semapv:UnspecifiedMatching MONDO:0004896 esotropia skos:exactMatch SCTID:16596007 semapv:UnspecifiedMatching MONDO:0004896 esotropia skos:exactMatch UMLS:C0014877 semapv:UnspecifiedMatching MONDO:0004896 esotropia skos:exactMatch icd11.foundation:459766644 Esotropia semapv:UnspecifiedMatching MONDO:0004896 esotropia skos:exactMatch mesh:D004948 semapv:UnspecifiedMatching MONDO:0004897 hypotropia skos:exactMatch DOID:9841 hypotropia semapv:UnspecifiedMatching MONDO:0004897 hypotropia skos:exactMatch MEDGEN:101826 semapv:UnspecifiedMatching MONDO:0004897 hypotropia skos:exactMatch NCIT:C42086 Downward Ocular Deviation semapv:UnspecifiedMatching MONDO:0004897 hypotropia skos:exactMatch SCTID:29491004 semapv:UnspecifiedMatching MONDO:0004897 hypotropia skos:exactMatch UMLS:C0152208 semapv:UnspecifiedMatching MONDO:0004897 hypotropia skos:exactMatch icd11.foundation:1840811827 Hypotropia semapv:UnspecifiedMatching MONDO:0004898 total circumpapillary dystrophy of choroid skos:exactMatch DOID:9842 total circumpapillary dystrophy of choroid semapv:UnspecifiedMatching MONDO:0004898 total circumpapillary dystrophy of choroid skos:exactMatch MEDGEN:509705 semapv:UnspecifiedMatching MONDO:0004898 total circumpapillary dystrophy of choroid skos:exactMatch SCTID:59753003 semapv:UnspecifiedMatching MONDO:0004898 total circumpapillary dystrophy of choroid skos:exactMatch UMLS:C0154896 semapv:UnspecifiedMatching MONDO:0004899 monofixation syndrome skos:exactMatch DOID:9843 monofixation syndrome semapv:UnspecifiedMatching MONDO:0004899 monofixation syndrome skos:exactMatch ICD10CM:H50.42 Monofixation syndrome semapv:UnspecifiedMatching MONDO:0004899 monofixation syndrome skos:exactMatch MEDGEN:573259 semapv:UnspecifiedMatching MONDO:0004899 monofixation syndrome skos:exactMatch SCTID:14785004 semapv:UnspecifiedMatching MONDO:0004899 monofixation syndrome skos:exactMatch UMLS:C0339611 semapv:UnspecifiedMatching MONDO:0004899 monofixation syndrome skos:exactMatch icd11.foundation:1068979205 Monofixation syndrome semapv:UnspecifiedMatching MONDO:0004900 peripheral vertigo skos:exactMatch DOID:9847 peripheral vertigo semapv:UnspecifiedMatching MONDO:0004900 peripheral vertigo skos:exactMatch MEDGEN:102334 semapv:UnspecifiedMatching MONDO:0004900 peripheral vertigo skos:exactMatch SCTID:50438001 semapv:UnspecifiedMatching MONDO:0004900 peripheral vertigo skos:exactMatch UMLS:C0155501 semapv:UnspecifiedMatching MONDO:0004901 lingual-facial-buccal dyskinesia skos:exactMatch DOID:9854 lingual-facial-buccal dyskinesia semapv:UnspecifiedMatching MONDO:0004901 lingual-facial-buccal dyskinesia skos:exactMatch MEDGEN:57747 semapv:UnspecifiedMatching MONDO:0004901 lingual-facial-buccal dyskinesia skos:exactMatch SCTID:49386006 semapv:UnspecifiedMatching MONDO:0004901 lingual-facial-buccal dyskinesia skos:exactMatch UMLS:C0152115 semapv:UnspecifiedMatching MONDO:0004902 interstitial keratitis skos:exactMatch DOID:9857 interstitial keratitis semapv:UnspecifiedMatching MONDO:0004902 interstitial keratitis skos:exactMatch MEDGEN:509779 semapv:UnspecifiedMatching MONDO:0004902 interstitial keratitis skos:exactMatch UMLS:C0155088 semapv:UnspecifiedMatching MONDO:0004903 deep keratitis skos:exactMatch DOID:9858 deep keratitis semapv:UnspecifiedMatching MONDO:0004903 deep keratitis skos:exactMatch MEDGEN:755799 semapv:UnspecifiedMatching MONDO:0004903 deep keratitis skos:exactMatch SCTID:445741003 semapv:UnspecifiedMatching MONDO:0004903 deep keratitis skos:exactMatch UMLS:C2960633 semapv:UnspecifiedMatching MONDO:0004904 toxic maculopathy skos:exactMatch DOID:9867 toxic maculopathy semapv:UnspecifiedMatching MONDO:0004904 toxic maculopathy skos:exactMatch ICD10CM:H35.38 Toxic maculopathy semapv:UnspecifiedMatching MONDO:0004904 toxic maculopathy skos:exactMatch MEDGEN:543164 semapv:UnspecifiedMatching MONDO:0004904 toxic maculopathy skos:exactMatch SCTID:44115007 semapv:UnspecifiedMatching MONDO:0004904 toxic maculopathy skos:exactMatch UMLS:C0271086 semapv:UnspecifiedMatching MONDO:0004904 toxic maculopathy skos:exactMatch icd11.foundation:1889317154 Toxic maculopathy semapv:UnspecifiedMatching MONDO:0004905 intestinal disaccharidase deficiency skos:exactMatch DOID:9868 intestinal disaccharidase deficiency semapv:UnspecifiedMatching MONDO:0004905 intestinal disaccharidase deficiency skos:exactMatch EFO:1000060 semapv:UnspecifiedMatching MONDO:0004905 intestinal disaccharidase deficiency skos:exactMatch MEDGEN:675093 semapv:UnspecifiedMatching MONDO:0004905 intestinal disaccharidase deficiency skos:exactMatch NCIT:C34731 Intestinal Disaccharidase Deficiency and Disaccharide Malabsorption semapv:UnspecifiedMatching MONDO:0004905 intestinal disaccharidase deficiency skos:exactMatch SCTID:22169002 semapv:UnspecifiedMatching MONDO:0004905 intestinal disaccharidase deficiency skos:exactMatch UMLS:C0699848 semapv:UnspecifiedMatching MONDO:0004907 alopecia skos:exactMatch DOID:987 alopecia semapv:UnspecifiedMatching MONDO:0004907 alopecia skos:exactMatch MEDGEN:7982 semapv:UnspecifiedMatching MONDO:0004907 alopecia skos:exactMatch NCIT:C50575 Alopecia semapv:UnspecifiedMatching MONDO:0004907 alopecia skos:exactMatch Orphanet:79364 Alopecia semapv:UnspecifiedMatching MONDO:0004907 alopecia skos:exactMatch SCTID:56317004 semapv:UnspecifiedMatching MONDO:0004907 alopecia skos:exactMatch UMLS:C0002170 semapv:UnspecifiedMatching MONDO:0004907 alopecia skos:exactMatch icd11.foundation:1313926062 Alopecia or hair loss semapv:UnspecifiedMatching MONDO:0004907 alopecia skos:exactMatch mesh:D000505 semapv:UnspecifiedMatching MONDO:0004909 urethral gland abscess skos:exactMatch DOID:9877 urethral gland abscess semapv:UnspecifiedMatching MONDO:0004909 urethral gland abscess skos:exactMatch MEDGEN:754230 semapv:UnspecifiedMatching MONDO:0004909 urethral gland abscess skos:exactMatch SCTID:444820005 semapv:UnspecifiedMatching MONDO:0004909 urethral gland abscess skos:exactMatch UMLS:C2919928 semapv:UnspecifiedMatching MONDO:0004909 urethral gland abscess skos:exactMatch icd11.foundation:2030970195 Urethral gland abscess semapv:UnspecifiedMatching MONDO:0004910 mitral valve prolapse skos:exactMatch DOID:988 mitral valve prolapse semapv:UnspecifiedMatching MONDO:0004910 mitral valve prolapse skos:exactMatch MEDGEN:7671 semapv:UnspecifiedMatching MONDO:0004910 mitral valve prolapse skos:exactMatch NCIT:C50655 Mitral Valve Prolapse semapv:UnspecifiedMatching MONDO:0004910 mitral valve prolapse skos:exactMatch SCTID:409712001 semapv:UnspecifiedMatching MONDO:0004910 mitral valve prolapse skos:exactMatch UMLS:C0026267 semapv:UnspecifiedMatching MONDO:0004910 mitral valve prolapse skos:exactMatch icd11.foundation:1085590500 Mitral valve prolapse semapv:UnspecifiedMatching MONDO:0004910 mitral valve prolapse skos:exactMatch mesh:D008945 semapv:UnspecifiedMatching MONDO:0004911 cardiovascular syphilis skos:exactMatch DOID:9880 cardiovascular syphilis semapv:UnspecifiedMatching MONDO:0004911 cardiovascular syphilis skos:exactMatch MEDGEN:21055 semapv:UnspecifiedMatching MONDO:0004911 cardiovascular syphilis skos:exactMatch SCTID:83883001 semapv:UnspecifiedMatching MONDO:0004911 cardiovascular syphilis skos:exactMatch UMLS:C0039130 semapv:UnspecifiedMatching MONDO:0004911 cardiovascular syphilis skos:exactMatch icd11.foundation:183283901 Cardiovascular late syphilis semapv:UnspecifiedMatching MONDO:0004913 alternating esotropia skos:exactMatch DOID:9888 alternating esotropia semapv:UnspecifiedMatching MONDO:0004913 alternating esotropia skos:exactMatch ICD10CM:H50.05 Alternating esotropia semapv:UnspecifiedMatching MONDO:0004913 alternating esotropia skos:exactMatch MEDGEN:57515 semapv:UnspecifiedMatching MONDO:0004913 alternating esotropia skos:exactMatch SCTID:39837002 semapv:UnspecifiedMatching MONDO:0004913 alternating esotropia skos:exactMatch UMLS:C0152205 semapv:UnspecifiedMatching MONDO:0004913 alternating esotropia skos:exactMatch icd11.foundation:935468618 Alternating esotropia semapv:UnspecifiedMatching MONDO:0004917 internal hordeolum skos:exactMatch DOID:9908 internal hordeolum semapv:UnspecifiedMatching MONDO:0004917 internal hordeolum skos:exactMatch MEDGEN:43227 semapv:UnspecifiedMatching MONDO:0004917 internal hordeolum skos:exactMatch SCTID:414521009 semapv:UnspecifiedMatching MONDO:0004917 internal hordeolum skos:exactMatch UMLS:C0085690 semapv:UnspecifiedMatching MONDO:0004918 central corneal ulcer skos:exactMatch DOID:9910 central corneal ulcer semapv:UnspecifiedMatching MONDO:0004918 central corneal ulcer skos:exactMatch ICD10CM:H16.01 Central corneal ulcer semapv:UnspecifiedMatching MONDO:0004918 central corneal ulcer skos:exactMatch MEDGEN:509767 semapv:UnspecifiedMatching MONDO:0004918 central corneal ulcer skos:exactMatch SCTID:7426009 semapv:UnspecifiedMatching MONDO:0004918 central corneal ulcer skos:exactMatch UMLS:C0155069 semapv:UnspecifiedMatching MONDO:0004918 central corneal ulcer skos:exactMatch icd11.foundation:457542318 Central corneal ulcer semapv:UnspecifiedMatching MONDO:0004919 infected hydrocele skos:exactMatch DOID:9911 infected hydrocele semapv:UnspecifiedMatching MONDO:0004919 infected hydrocele skos:exactMatch ICD10CM:N43.1 Infected hydrocele semapv:UnspecifiedMatching MONDO:0004919 infected hydrocele skos:exactMatch MEDGEN:510235 semapv:UnspecifiedMatching MONDO:0004919 infected hydrocele skos:exactMatch SCTID:11666007 semapv:UnspecifiedMatching MONDO:0004919 infected hydrocele skos:exactMatch UMLS:C0156300 semapv:UnspecifiedMatching MONDO:0004919 infected hydrocele skos:exactMatch icd11.foundation:329423502 Infected hydrocele semapv:UnspecifiedMatching MONDO:0004920 hydrocele skos:exactMatch DOID:9912 hydrocele semapv:UnspecifiedMatching MONDO:0004920 hydrocele skos:exactMatch MEDGEN:318568 semapv:UnspecifiedMatching MONDO:0004920 hydrocele skos:exactMatch SCTID:55434001 semapv:UnspecifiedMatching MONDO:0004920 hydrocele skos:exactMatch UMLS:C1720771 semapv:UnspecifiedMatching MONDO:0004922 developmental coordination disorder skos:exactMatch DOID:9923 developmental coordination disorder semapv:UnspecifiedMatching MONDO:0004922 developmental coordination disorder skos:exactMatch MEDGEN:41511 semapv:UnspecifiedMatching MONDO:0004922 developmental coordination disorder skos:exactMatch NCIT:C92561 Developmental Coordination Disorder semapv:UnspecifiedMatching MONDO:0004922 developmental coordination disorder skos:exactMatch SCTID:27544004 semapv:UnspecifiedMatching MONDO:0004922 developmental coordination disorder skos:exactMatch UMLS:C0011757 semapv:UnspecifiedMatching MONDO:0004922 developmental coordination disorder skos:exactMatch mesh:D019957 semapv:UnspecifiedMatching MONDO:0004923 chronic inflammation of lacrimal passage skos:exactMatch DOID:9935 chronic inflammation of lacrimal passage semapv:UnspecifiedMatching MONDO:0004923 chronic inflammation of lacrimal passage skos:exactMatch MEDGEN:509865 semapv:UnspecifiedMatching MONDO:0004923 chronic inflammation of lacrimal passage skos:exactMatch SCTID:267653001 semapv:UnspecifiedMatching MONDO:0004923 chronic inflammation of lacrimal passage skos:exactMatch UMLS:C0155239 semapv:UnspecifiedMatching MONDO:0004924 chronic canaliculitis skos:exactMatch DOID:9936 chronic canaliculitis semapv:UnspecifiedMatching MONDO:0004924 chronic canaliculitis skos:exactMatch MEDGEN:509866 semapv:UnspecifiedMatching MONDO:0004924 chronic canaliculitis skos:exactMatch SCTID:26479009 semapv:UnspecifiedMatching MONDO:0004924 chronic canaliculitis skos:exactMatch UMLS:C0155240 semapv:UnspecifiedMatching MONDO:0004925 chronic dacryocystitis skos:exactMatch DOID:9937 chronic dacryocystitis semapv:UnspecifiedMatching MONDO:0004925 chronic dacryocystitis skos:exactMatch ICD10CM:H04.41 Chronic dacryocystitis semapv:UnspecifiedMatching MONDO:0004925 chronic dacryocystitis skos:exactMatch MEDGEN:508388 semapv:UnspecifiedMatching MONDO:0004925 chronic dacryocystitis skos:exactMatch SCTID:84627005 semapv:UnspecifiedMatching MONDO:0004925 chronic dacryocystitis skos:exactMatch UMLS:C0149506 semapv:UnspecifiedMatching MONDO:0004925 chronic dacryocystitis skos:exactMatch icd11.foundation:617640909 Chronic dacryocystitis semapv:UnspecifiedMatching MONDO:0004926 dacryocystitis skos:exactMatch DOID:9938 dacryocystitis semapv:UnspecifiedMatching MONDO:0004926 dacryocystitis skos:exactMatch MEDGEN:3686 semapv:UnspecifiedMatching MONDO:0004926 dacryocystitis skos:exactMatch NCIT:C34521 Dacryocystitis semapv:UnspecifiedMatching MONDO:0004926 dacryocystitis skos:exactMatch SCTID:85777005 semapv:UnspecifiedMatching MONDO:0004926 dacryocystitis skos:exactMatch UMLS:C0010930 semapv:UnspecifiedMatching MONDO:0004926 dacryocystitis skos:exactMatch icd11.foundation:1034960983 Dacryocystitis semapv:UnspecifiedMatching MONDO:0004926 dacryocystitis skos:exactMatch mesh:D003607 semapv:UnspecifiedMatching MONDO:0004927 dacryocystocele skos:exactMatch DOID:9939 dacryocystocele semapv:UnspecifiedMatching MONDO:0004927 dacryocystocele skos:exactMatch MEDGEN:472901 semapv:UnspecifiedMatching MONDO:0004927 dacryocystocele skos:exactMatch UMLS:C0155241 semapv:UnspecifiedMatching MONDO:0004928 lymph node disorder skos:exactMatch DOID:9942 lymph node disease semapv:UnspecifiedMatching MONDO:0004928 lymph node disorder skos:exactMatch MEDGEN:78802 semapv:UnspecifiedMatching MONDO:0004928 lymph node disorder skos:exactMatch NCIT:C35346 Lymph Node Disorder semapv:UnspecifiedMatching MONDO:0004928 lymph node disorder skos:exactMatch SCTID:76616003 semapv:UnspecifiedMatching MONDO:0004928 lymph node disorder skos:exactMatch UMLS:C0272394 semapv:UnspecifiedMatching MONDO:0004929 constant exophthalmos skos:exactMatch DOID:9945 constant exophthalmos semapv:UnspecifiedMatching MONDO:0004929 constant exophthalmos skos:exactMatch ICD10CM:H05.24 Constant exophthalmos semapv:UnspecifiedMatching MONDO:0004929 constant exophthalmos skos:exactMatch MEDGEN:509884 semapv:UnspecifiedMatching MONDO:0004929 constant exophthalmos skos:exactMatch SCTID:89907009 semapv:UnspecifiedMatching MONDO:0004929 constant exophthalmos skos:exactMatch UMLS:C0155267 semapv:UnspecifiedMatching MONDO:0004929 constant exophthalmos skos:exactMatch icd11.foundation:2100094996 Constant exophthalmos semapv:UnspecifiedMatching MONDO:0004930 steroid-induced glaucoma skos:exactMatch DOID:9946 steroid-induced glaucoma semapv:UnspecifiedMatching MONDO:0004930 steroid-induced glaucoma skos:exactMatch MEDGEN:573238 semapv:UnspecifiedMatching MONDO:0004930 steroid-induced glaucoma skos:exactMatch SCTID:1654001 semapv:UnspecifiedMatching MONDO:0004930 steroid-induced glaucoma skos:exactMatch UMLS:C0339578 semapv:UnspecifiedMatching MONDO:0004931 residual stage corticosteroid-induced glaucoma skos:exactMatch DOID:9948 residual stage corticosteroid-induced glaucoma semapv:UnspecifiedMatching MONDO:0004931 residual stage corticosteroid-induced glaucoma skos:exactMatch MEDGEN:573240 semapv:UnspecifiedMatching MONDO:0004931 residual stage corticosteroid-induced glaucoma skos:exactMatch SCTID:193549003 semapv:UnspecifiedMatching MONDO:0004931 residual stage corticosteroid-induced glaucoma skos:exactMatch UMLS:C0339580 semapv:UnspecifiedMatching MONDO:0004932 null-cell leukemia skos:exactMatch DOID:9954 null-cell leukemia semapv:UnspecifiedMatching MONDO:0004932 null-cell leukemia skos:exactMatch MEDGEN:507917 semapv:UnspecifiedMatching MONDO:0004932 null-cell leukemia skos:exactMatch SCTID:277574007 semapv:UnspecifiedMatching MONDO:0004932 null-cell leukemia skos:exactMatch UMLS:C0023483 semapv:UnspecifiedMatching MONDO:0004933 hypoplastic left heart syndrome skos:exactMatch DOID:9955 hypoplastic left heart syndrome semapv:UnspecifiedMatching MONDO:0004933 hypoplastic left heart syndrome skos:exactMatch ICD10CM:Q23.4 Hypoplastic left heart syndrome semapv:UnspecifiedMatching MONDO:0004933 hypoplastic left heart syndrome skos:exactMatch MEDGEN:57746 semapv:UnspecifiedMatching MONDO:0004933 hypoplastic left heart syndrome skos:exactMatch NCIT:C98894 Hypoplastic Left Heart Syndrome semapv:UnspecifiedMatching MONDO:0004933 hypoplastic left heart syndrome skos:exactMatch OMIMPS:241550 Hypoplastic left heart syndrome semapv:UnspecifiedMatching MONDO:0004933 hypoplastic left heart syndrome skos:exactMatch Orphanet:2248 Hypoplastic left heart syndrome semapv:UnspecifiedMatching MONDO:0004933 hypoplastic left heart syndrome skos:exactMatch SCTID:62067003 semapv:UnspecifiedMatching MONDO:0004933 hypoplastic left heart syndrome skos:exactMatch UMLS:C0152101 semapv:UnspecifiedMatching MONDO:0004933 hypoplastic left heart syndrome skos:exactMatch icd11.foundation:1811800027 Hypoplastic left heart syndrome semapv:UnspecifiedMatching MONDO:0004933 hypoplastic left heart syndrome skos:exactMatch mesh:D018636 semapv:UnspecifiedMatching MONDO:0004934 periostitis skos:exactMatch DOID:9957 periostitis semapv:UnspecifiedMatching MONDO:0004934 periostitis skos:exactMatch MEDGEN:45816 semapv:UnspecifiedMatching MONDO:0004934 periostitis skos:exactMatch SCTID:41910004 semapv:UnspecifiedMatching MONDO:0004934 periostitis skos:exactMatch UMLS:C0031111 semapv:UnspecifiedMatching MONDO:0004934 periostitis skos:exactMatch icd11.foundation:505688542 Periostitis semapv:UnspecifiedMatching MONDO:0004934 periostitis skos:exactMatch mesh:D010522 semapv:UnspecifiedMatching MONDO:0004936 uterine inversion skos:exactMatch DOID:997 uterine inversion semapv:UnspecifiedMatching MONDO:0004936 uterine inversion skos:exactMatch MEDGEN:57916 semapv:UnspecifiedMatching MONDO:0004936 uterine inversion skos:exactMatch SCTID:27215002 semapv:UnspecifiedMatching MONDO:0004936 uterine inversion skos:exactMatch UMLS:C0162482 semapv:UnspecifiedMatching MONDO:0004936 uterine inversion skos:exactMatch mesh:D019687 semapv:UnspecifiedMatching MONDO:0004937 hypervitaminosis D skos:exactMatch DOID:9971 hypervitaminosis D semapv:UnspecifiedMatching MONDO:0004937 hypervitaminosis D skos:exactMatch ICD10CM:E67.3 Hypervitaminosis D semapv:UnspecifiedMatching MONDO:0004937 hypervitaminosis D skos:exactMatch MEDGEN:730644 semapv:UnspecifiedMatching MONDO:0004937 hypervitaminosis D skos:exactMatch SCTID:27712000 semapv:UnspecifiedMatching MONDO:0004937 hypervitaminosis D skos:exactMatch UMLS:C1442839 semapv:UnspecifiedMatching MONDO:0004937 hypervitaminosis D skos:exactMatch icd11.foundation:602997191 Hypervitaminosis D semapv:UnspecifiedMatching MONDO:0004938 substance dependence skos:exactMatch DOID:9973 substance dependence semapv:UnspecifiedMatching MONDO:0004938 substance dependence skos:exactMatch MEDGEN:20989 semapv:UnspecifiedMatching MONDO:0004938 substance dependence skos:exactMatch NCIT:C35458 Dependence semapv:UnspecifiedMatching MONDO:0004938 substance dependence skos:exactMatch SCTID:2403008 semapv:UnspecifiedMatching MONDO:0004938 substance dependence skos:exactMatch UMLS:C0038580 semapv:UnspecifiedMatching MONDO:0004939 hallucinogen dependence skos:exactMatch DOID:9977 hallucinogen dependence semapv:UnspecifiedMatching MONDO:0004939 hallucinogen dependence skos:exactMatch ICD10CM:F16.2 Hallucinogen dependence semapv:UnspecifiedMatching MONDO:0004939 hallucinogen dependence skos:exactMatch MEDGEN:5415 semapv:UnspecifiedMatching MONDO:0004939 hallucinogen dependence skos:exactMatch NCIT:C34657 Hallucinogen Dependence semapv:UnspecifiedMatching MONDO:0004939 hallucinogen dependence skos:exactMatch SCTID:38247002 semapv:UnspecifiedMatching MONDO:0004939 hallucinogen dependence skos:exactMatch UMLS:C0018528 semapv:UnspecifiedMatching MONDO:0004939 hallucinogen dependence skos:exactMatch icd11.foundation:2041952725 Hallucinogen dependence semapv:UnspecifiedMatching MONDO:0004940 acute female pelvic peritonitis skos:exactMatch DOID:9978 acute female pelvic peritonitis semapv:UnspecifiedMatching MONDO:0004940 acute female pelvic peritonitis skos:exactMatch ICD10CM:N73.3 Female acute pelvic peritonitis semapv:UnspecifiedMatching MONDO:0004940 acute female pelvic peritonitis skos:exactMatch MEDGEN:541683 semapv:UnspecifiedMatching MONDO:0004940 acute female pelvic peritonitis skos:exactMatch SCTID:85051008 semapv:UnspecifiedMatching MONDO:0004940 acute female pelvic peritonitis skos:exactMatch UMLS:C0269032 semapv:UnspecifiedMatching MONDO:0004941 eosinophilia-myalgia syndrome skos:exactMatch DOID:998 eosinophilia-myalgia syndrome semapv:UnspecifiedMatching MONDO:0004941 eosinophilia-myalgia syndrome skos:exactMatch EFO:1001316 semapv:UnspecifiedMatching MONDO:0004941 eosinophilia-myalgia syndrome skos:exactMatch MEDGEN:38987 semapv:UnspecifiedMatching MONDO:0004941 eosinophilia-myalgia syndrome skos:exactMatch SCTID:95416007 semapv:UnspecifiedMatching MONDO:0004941 eosinophilia-myalgia syndrome skos:exactMatch UMLS:C0085179 semapv:UnspecifiedMatching MONDO:0004941 eosinophilia-myalgia syndrome skos:exactMatch icd11.foundation:1361333197 Eosinophilia myalgia syndrome semapv:UnspecifiedMatching MONDO:0004941 eosinophilia-myalgia syndrome skos:exactMatch mesh:D016603 semapv:UnspecifiedMatching MONDO:0004942 orbit lymphoma skos:exactMatch DOID:9986 orbit lymphoma semapv:UnspecifiedMatching MONDO:0004942 orbit lymphoma skos:exactMatch MEDGEN:75744 semapv:UnspecifiedMatching MONDO:0004942 orbit lymphoma skos:exactMatch NCIT:C6244 Orbital Lymphoma semapv:UnspecifiedMatching MONDO:0004942 orbit lymphoma skos:exactMatch SCTID:13048006 semapv:UnspecifiedMatching MONDO:0004942 orbit lymphoma skos:exactMatch UMLS:C0271333 semapv:UnspecifiedMatching MONDO:0004942 orbit lymphoma skos:exactMatch mesh:C537131 semapv:UnspecifiedMatching MONDO:0004943 orbit sarcoma skos:exactMatch DOID:9987 orbit sarcoma semapv:UnspecifiedMatching MONDO:0004943 orbit sarcoma skos:exactMatch MEDGEN:277449 semapv:UnspecifiedMatching MONDO:0004943 orbit sarcoma skos:exactMatch NCIT:C6095 Orbital Sarcoma semapv:UnspecifiedMatching MONDO:0004943 orbit sarcoma skos:exactMatch SCTID:699354006 semapv:UnspecifiedMatching MONDO:0004943 orbit sarcoma skos:exactMatch UMLS:C1335131 semapv:UnspecifiedMatching MONDO:0004944 neurosyphilis skos:exactMatch DOID:9988 tertiary neurosyphilis semapv:UnspecifiedMatching MONDO:0004944 neurosyphilis skos:exactMatch ICD10CM:A52.3 Neurosyphilis, unspecified semapv:UnspecifiedMatching MONDO:0004944 neurosyphilis skos:exactMatch MEDGEN:14360 semapv:UnspecifiedMatching MONDO:0004944 neurosyphilis skos:exactMatch NCIT:C84935 Neurosyphilis semapv:UnspecifiedMatching MONDO:0004944 neurosyphilis skos:exactMatch SCTID:26039008 semapv:UnspecifiedMatching MONDO:0004944 neurosyphilis skos:exactMatch UMLS:C0027927 semapv:UnspecifiedMatching MONDO:0004944 neurosyphilis skos:exactMatch icd11.foundation:2118246468 Neurosyphilis semapv:UnspecifiedMatching MONDO:0004944 neurosyphilis skos:exactMatch mesh:D009494 semapv:UnspecifiedMatching MONDO:0004946 hypoglycemia skos:exactMatch DOID:9993 hypoglycemia semapv:UnspecifiedMatching MONDO:0004946 hypoglycemia skos:exactMatch MEDGEN:6979 semapv:UnspecifiedMatching MONDO:0004946 hypoglycemia skos:exactMatch NCIT:C3126 Hypoglycemia semapv:UnspecifiedMatching MONDO:0004946 hypoglycemia skos:exactMatch SCTID:302866003 semapv:UnspecifiedMatching MONDO:0004946 hypoglycemia skos:exactMatch UMLS:C0020615 semapv:UnspecifiedMatching MONDO:0004946 hypoglycemia skos:exactMatch mesh:D007003 semapv:UnspecifiedMatching MONDO:0004947 B-cell acute lymphoblastic leukemia skos:exactMatch DOID:0080630 B-lymphoblastic leukemia/lymphoma semapv:UnspecifiedMatching MONDO:0004947 B-cell acute lymphoblastic leukemia skos:exactMatch EFO:0000094 semapv:UnspecifiedMatching MONDO:0004947 B-cell acute lymphoblastic leukemia skos:exactMatch MEDGEN:226949 semapv:UnspecifiedMatching MONDO:0004947 B-cell acute lymphoblastic leukemia skos:exactMatch NCIT:C8936 B Lymphoblastic Leukemia/Lymphoma semapv:UnspecifiedMatching MONDO:0004947 B-cell acute lymphoblastic leukemia skos:exactMatch SCTID:277571004 semapv:UnspecifiedMatching MONDO:0004947 B-cell acute lymphoblastic leukemia skos:exactMatch UMLS:C1292769 semapv:UnspecifiedMatching MONDO:0004948 B-cell chronic lymphocytic leukemia skos:exactMatch DOID:1040 chronic lymphocytic leukemia semapv:UnspecifiedMatching MONDO:0004948 B-cell chronic lymphocytic leukemia skos:exactMatch EFO:0000095 semapv:UnspecifiedMatching MONDO:0004948 B-cell chronic lymphocytic leukemia skos:exactMatch ICD10CM:C91.1 Chronic lymphocytic leukemia of B-cell type semapv:UnspecifiedMatching MONDO:0004948 B-cell chronic lymphocytic leukemia skos:exactMatch MEDGEN:44120 semapv:UnspecifiedMatching MONDO:0004948 B-cell chronic lymphocytic leukemia skos:exactMatch NCIT:C3163 Chronic Lymphocytic Leukemia semapv:UnspecifiedMatching MONDO:0004948 B-cell chronic lymphocytic leukemia skos:exactMatch OMIM:151400 leukemia, chronic lymphocytic semapv:UnspecifiedMatching MONDO:0004948 B-cell chronic lymphocytic leukemia skos:exactMatch Orphanet:67038 B-cell chronic lymphocytic leukemia semapv:UnspecifiedMatching MONDO:0004948 B-cell chronic lymphocytic leukemia skos:exactMatch UMLS:C0023434 semapv:UnspecifiedMatching MONDO:0004948 B-cell chronic lymphocytic leukemia skos:exactMatch mesh:D015451 semapv:UnspecifiedMatching MONDO:0004949 neoplasm of mature B-cells skos:exactMatch DOID:706 mature B-cell neoplasm semapv:UnspecifiedMatching MONDO:0004949 neoplasm of mature B-cells skos:exactMatch EFO:0000096 semapv:UnspecifiedMatching MONDO:0004949 neoplasm of mature B-cells skos:exactMatch MEDGEN:235305 semapv:UnspecifiedMatching MONDO:0004949 neoplasm of mature B-cells skos:exactMatch NCIT:C27910 Mature B-Cell Neoplasm semapv:UnspecifiedMatching MONDO:0004949 neoplasm of mature B-cells skos:exactMatch SCTID:269476000 semapv:UnspecifiedMatching MONDO:0004949 neoplasm of mature B-cells skos:exactMatch UMLS:C1334633 semapv:UnspecifiedMatching MONDO:0004950 gastric carcinoma skos:exactMatch DOID:10538 gastric fundus cancer semapv:UnspecifiedMatching MONDO:0004950 gastric carcinoma skos:exactMatch DOID:5517 stomach carcinoma semapv:UnspecifiedMatching MONDO:0004950 gastric carcinoma skos:exactMatch EFO:0000178 semapv:UnspecifiedMatching MONDO:0004950 gastric carcinoma skos:exactMatch MEDGEN:147066 semapv:UnspecifiedMatching MONDO:0004950 gastric carcinoma skos:exactMatch NCIT:C4911 Gastric Carcinoma semapv:UnspecifiedMatching MONDO:0004950 gastric carcinoma skos:exactMatch SCTID:187741001 semapv:UnspecifiedMatching MONDO:0004950 gastric carcinoma skos:exactMatch UMLS:C0699791 semapv:UnspecifiedMatching MONDO:0004950 gastric carcinoma skos:exactMatch icd11.foundation:1503707183 Carcinoma of stomach semapv:UnspecifiedMatching MONDO:0004951 susceptibility to HIV infection skos:exactMatch MEDGEN:332156 semapv:UnspecifiedMatching MONDO:0004951 susceptibility to HIV infection skos:exactMatch OMIM:609423 human immunodeficiency virus type 1, susceptibility to semapv:UnspecifiedMatching MONDO:0004951 susceptibility to HIV infection skos:exactMatch UMLS:C1836230 semapv:UnspecifiedMatching MONDO:0004952 Hodgkins lymphoma skos:exactMatch DOID:8567 Hodgkin's lymphoma semapv:UnspecifiedMatching MONDO:0004952 Hodgkins lymphoma skos:exactMatch EFO:0000183 semapv:UnspecifiedMatching MONDO:0004952 Hodgkins lymphoma skos:exactMatch ICD10CM:C81 Hodgkin lymphoma semapv:UnspecifiedMatching MONDO:0004952 Hodgkins lymphoma skos:exactMatch NCIT:C9357 Hodgkin Lymphoma semapv:UnspecifiedMatching MONDO:0004952 Hodgkins lymphoma skos:exactMatch Orphanet:98293 Hodgkin lymphoma semapv:UnspecifiedMatching MONDO:0004952 Hodgkins lymphoma skos:exactMatch icd11.foundation:1528863768 Hodgkin lymphoma semapv:UnspecifiedMatching MONDO:0004952 Hodgkins lymphoma skos:exactMatch mesh:D006689 semapv:UnspecifiedMatching MONDO:0004953 invasive ductal breast carcinoma skos:exactMatch DOID:3008 invasive ductal carcinoma semapv:UnspecifiedMatching MONDO:0004953 invasive ductal breast carcinoma skos:exactMatch EFO:0000186 semapv:UnspecifiedMatching MONDO:0004953 invasive ductal breast carcinoma skos:exactMatch MEDGEN:730612 semapv:UnspecifiedMatching MONDO:0004953 invasive ductal breast carcinoma skos:exactMatch NCIT:C4194 Invasive Breast Carcinoma of No Special Type semapv:UnspecifiedMatching MONDO:0004953 invasive ductal breast carcinoma skos:exactMatch SCTID:408643008 semapv:UnspecifiedMatching MONDO:0004953 invasive ductal breast carcinoma skos:exactMatch UMLS:C1412014 semapv:UnspecifiedMatching MONDO:0004956 metastatic prostate carcinoma skos:exactMatch EFO:0000196 semapv:UnspecifiedMatching MONDO:0004956 metastatic prostate carcinoma skos:exactMatch MEDGEN:215232 semapv:UnspecifiedMatching MONDO:0004956 metastatic prostate carcinoma skos:exactMatch NCIT:C8946 Metastatic Prostate Carcinoma semapv:UnspecifiedMatching MONDO:0004956 metastatic prostate carcinoma skos:exactMatch SCTID:314994000 semapv:UnspecifiedMatching MONDO:0004956 metastatic prostate carcinoma skos:exactMatch UMLS:C0936223 semapv:UnspecifiedMatching MONDO:0004957 mucinous adenocarcinoma skos:exactMatch DOID:3030 mucinous adenocarcinoma semapv:UnspecifiedMatching MONDO:0004957 mucinous adenocarcinoma skos:exactMatch EFO:0000197 semapv:UnspecifiedMatching MONDO:0004957 mucinous adenocarcinoma skos:exactMatch MEDGEN:2844 semapv:UnspecifiedMatching MONDO:0004957 mucinous adenocarcinoma skos:exactMatch NCIT:C26712 Mucinous Adenocarcinoma semapv:UnspecifiedMatching MONDO:0004957 mucinous adenocarcinoma skos:exactMatch UMLS:C0007130 semapv:UnspecifiedMatching MONDO:0004957 mucinous adenocarcinoma skos:exactMatch icd11.foundation:529352875 semapv:UnspecifiedMatching MONDO:0004957 mucinous adenocarcinoma skos:exactMatch mesh:D002288 semapv:UnspecifiedMatching MONDO:0004958 oral cavity squamous cell carcinoma skos:exactMatch DOID:0050866 oral squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0004958 oral cavity squamous cell carcinoma skos:exactMatch EFO:0000199 semapv:UnspecifiedMatching MONDO:0004958 oral cavity squamous cell carcinoma skos:exactMatch MEDGEN:108436 semapv:UnspecifiedMatching MONDO:0004958 oral cavity squamous cell carcinoma skos:exactMatch NCIT:C4833 Oral Cavity Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0004958 oral cavity squamous cell carcinoma skos:exactMatch Orphanet:502363 Squamous cell carcinoma of the oral cavity semapv:UnspecifiedMatching MONDO:0004958 oral cavity squamous cell carcinoma skos:exactMatch SCTID:307502000 semapv:UnspecifiedMatching MONDO:0004958 oral cavity squamous cell carcinoma skos:exactMatch UMLS:C0585362 semapv:UnspecifiedMatching MONDO:0004959 plasma cell neoplasm skos:exactMatch DOID:6536 plasma cell neoplasm semapv:UnspecifiedMatching MONDO:0004959 plasma cell neoplasm skos:exactMatch EFO:0000200 semapv:UnspecifiedMatching MONDO:0004959 plasma cell neoplasm skos:exactMatch MEDGEN:368758 semapv:UnspecifiedMatching MONDO:0004959 plasma cell neoplasm skos:exactMatch NCIT:C4665 Plasma Cell Neoplasm semapv:UnspecifiedMatching MONDO:0004959 plasma cell neoplasm skos:exactMatch Orphanet:98282 Plasma cell tumor semapv:UnspecifiedMatching MONDO:0004959 plasma cell neoplasm skos:exactMatch SCTID:415111003 semapv:UnspecifiedMatching MONDO:0004959 plasma cell neoplasm skos:exactMatch UMLS:C1959632 semapv:UnspecifiedMatching MONDO:0004959 plasma cell neoplasm skos:exactMatch mesh:D054219 semapv:UnspecifiedMatching MONDO:0004960 monoclonal gammopathy skos:exactMatch EFO:0000203 semapv:UnspecifiedMatching MONDO:0004960 monoclonal gammopathy skos:exactMatch ICD10CM:D47.2 Monoclonal gammopathy semapv:UnspecifiedMatching MONDO:0004960 monoclonal gammopathy skos:exactMatch MEDGEN:210153 semapv:UnspecifiedMatching MONDO:0004960 monoclonal gammopathy skos:exactMatch NCIT:C35548 Monoclonal Gammopathy semapv:UnspecifiedMatching MONDO:0004960 monoclonal gammopathy skos:exactMatch SCTID:109983007 semapv:UnspecifiedMatching MONDO:0004960 monoclonal gammopathy skos:exactMatch UMLS:C1136085 semapv:UnspecifiedMatching MONDO:0004960 monoclonal gammopathy skos:exactMatch mesh:D010265 semapv:UnspecifiedMatching MONDO:0004963 T-cell acute lymphoblastic leukemia skos:exactMatch DOID:5603 T-cell acute lymphoblastic leukemia semapv:UnspecifiedMatching MONDO:0004963 T-cell acute lymphoblastic leukemia skos:exactMatch EFO:0000209 semapv:UnspecifiedMatching MONDO:0004963 T-cell acute lymphoblastic leukemia skos:exactMatch MEDGEN:368378 semapv:UnspecifiedMatching MONDO:0004963 T-cell acute lymphoblastic leukemia skos:exactMatch NCIT:C3183 T Acute Lymphoblastic Leukemia semapv:UnspecifiedMatching MONDO:0004963 T-cell acute lymphoblastic leukemia skos:exactMatch SCTID:277575008 semapv:UnspecifiedMatching MONDO:0004963 T-cell acute lymphoblastic leukemia skos:exactMatch UMLS:C1961099 semapv:UnspecifiedMatching MONDO:0004964 peripheral T-cell lymphoma, not otherwise specified skos:exactMatch EFO:0000211 semapv:UnspecifiedMatching MONDO:0004964 peripheral T-cell lymphoma, not otherwise specified skos:exactMatch NCIT:C4340 Peripheral T-Cell Lymphoma, Not Otherwise Specified semapv:UnspecifiedMatching MONDO:0004964 peripheral T-cell lymphoma, not otherwise specified skos:exactMatch icd11.foundation:855224800 Peripheral T-cell lymphoma, not otherwise specified semapv:UnspecifiedMatching MONDO:0004965 acinar cell carcinoma skos:exactMatch DOID:3025 acinar cell carcinoma semapv:UnspecifiedMatching MONDO:0004965 acinar cell carcinoma skos:exactMatch EFO:0000216 semapv:UnspecifiedMatching MONDO:0004965 acinar cell carcinoma skos:exactMatch MEDGEN:61660 semapv:UnspecifiedMatching MONDO:0004965 acinar cell carcinoma skos:exactMatch NCIT:C3768 Acinar Cell Carcinoma semapv:UnspecifiedMatching MONDO:0004965 acinar cell carcinoma skos:exactMatch UMLS:C0206685 semapv:UnspecifiedMatching MONDO:0004965 acinar cell carcinoma skos:exactMatch icd11.foundation:1322159869 semapv:UnspecifiedMatching MONDO:0004965 acinar cell carcinoma skos:exactMatch mesh:D018267 semapv:UnspecifiedMatching MONDO:0004966 gastritis skos:exactMatch DOID:4029 gastritis semapv:UnspecifiedMatching MONDO:0004966 gastritis skos:exactMatch EFO:0000217 semapv:UnspecifiedMatching MONDO:0004966 gastritis skos:exactMatch MEDGEN:4843 semapv:UnspecifiedMatching MONDO:0004966 gastritis skos:exactMatch NCIT:C26780 Gastritis semapv:UnspecifiedMatching MONDO:0004966 gastritis skos:exactMatch SCTID:4556007 semapv:UnspecifiedMatching MONDO:0004966 gastritis skos:exactMatch UMLS:C0017152 semapv:UnspecifiedMatching MONDO:0004966 gastritis skos:exactMatch icd11.foundation:1871672644 Gastritis semapv:UnspecifiedMatching MONDO:0004966 gastritis skos:exactMatch mesh:D005756 semapv:UnspecifiedMatching MONDO:0004967 acute lymphoblastic leukemia skos:exactMatch DOID:9952 acute lymphoblastic leukemia semapv:UnspecifiedMatching MONDO:0004967 acute lymphoblastic leukemia skos:exactMatch EFO:0000220 semapv:UnspecifiedMatching MONDO:0004967 acute lymphoblastic leukemia skos:exactMatch ICD10CM:C91.0 Acute lymphoblastic leukemia [ALL] semapv:UnspecifiedMatching MONDO:0004967 acute lymphoblastic leukemia skos:exactMatch MEDGEN:7317 semapv:UnspecifiedMatching MONDO:0004967 acute lymphoblastic leukemia skos:exactMatch NCIT:C3167 Acute Lymphoblastic Leukemia semapv:UnspecifiedMatching MONDO:0004967 acute lymphoblastic leukemia skos:exactMatch Orphanet:513 Acute lymphoblastic leukemia semapv:UnspecifiedMatching MONDO:0004967 acute lymphoblastic leukemia skos:exactMatch SCTID:91857003 semapv:UnspecifiedMatching MONDO:0004967 acute lymphoblastic leukemia skos:exactMatch UMLS:C0023449 semapv:UnspecifiedMatching MONDO:0004969 acute quadriplegic myopathy skos:exactMatch EFO:0000225 semapv:UnspecifiedMatching MONDO:0004969 acute quadriplegic myopathy skos:exactMatch MEDGEN:1843474 semapv:UnspecifiedMatching MONDO:0004969 acute quadriplegic myopathy skos:exactMatch UMLS:C1135345 semapv:UnspecifiedMatching MONDO:0004970 adenocarcinoma skos:exactMatch DOID:299 adenocarcinoma semapv:UnspecifiedMatching MONDO:0004970 adenocarcinoma skos:exactMatch EFO:0000228 semapv:UnspecifiedMatching MONDO:0004970 adenocarcinoma skos:exactMatch MEDGEN:122 semapv:UnspecifiedMatching MONDO:0004970 adenocarcinoma skos:exactMatch NCIT:C2852 Adenocarcinoma semapv:UnspecifiedMatching MONDO:0004970 adenocarcinoma skos:exactMatch SCTID:443961001 semapv:UnspecifiedMatching MONDO:0004970 adenocarcinoma skos:exactMatch UMLS:C0001418 semapv:UnspecifiedMatching MONDO:0004970 adenocarcinoma skos:exactMatch mesh:D000230 semapv:UnspecifiedMatching MONDO:0004971 adenoid cystic carcinoma skos:exactMatch DOID:0080202 adenoid cystic carcinoma semapv:UnspecifiedMatching MONDO:0004971 adenoid cystic carcinoma skos:exactMatch EFO:0000231 semapv:UnspecifiedMatching MONDO:0004971 adenoid cystic carcinoma skos:exactMatch MEDGEN:41382 semapv:UnspecifiedMatching MONDO:0004971 adenoid cystic carcinoma skos:exactMatch NCIT:C2970 Adenoid Cystic Carcinoma semapv:UnspecifiedMatching MONDO:0004971 adenoid cystic carcinoma skos:exactMatch UMLS:C0010606 semapv:UnspecifiedMatching MONDO:0004971 adenoid cystic carcinoma skos:exactMatch icd11.foundation:2127202862 semapv:UnspecifiedMatching MONDO:0004971 adenoid cystic carcinoma skos:exactMatch mesh:D003528 semapv:UnspecifiedMatching MONDO:0004972 adenoma skos:exactMatch DOID:657 adenoma semapv:UnspecifiedMatching MONDO:0004972 adenoma skos:exactMatch EFO:0000232 semapv:UnspecifiedMatching MONDO:0004972 adenoma skos:exactMatch MEDGEN:125 semapv:UnspecifiedMatching MONDO:0004972 adenoma skos:exactMatch NCIT:C2855 Adenoma semapv:UnspecifiedMatching MONDO:0004972 adenoma skos:exactMatch SCTID:443416007 semapv:UnspecifiedMatching MONDO:0004972 adenoma skos:exactMatch UMLS:C0001430 semapv:UnspecifiedMatching MONDO:0004972 adenoma skos:exactMatch mesh:D000236 semapv:UnspecifiedMatching MONDO:0004973 adenosquamous lung carcinoma skos:exactMatch DOID:4829 adenosquamous lung carcinoma semapv:UnspecifiedMatching MONDO:0004973 adenosquamous lung carcinoma skos:exactMatch EFO:0000233 semapv:UnspecifiedMatching MONDO:0004973 adenosquamous lung carcinoma skos:exactMatch MEDGEN:79006 semapv:UnspecifiedMatching MONDO:0004973 adenosquamous lung carcinoma skos:exactMatch NCIT:C9133 Lung Adenosquamous Carcinoma semapv:UnspecifiedMatching MONDO:0004973 adenosquamous lung carcinoma skos:exactMatch SCTID:707405009 semapv:UnspecifiedMatching MONDO:0004973 adenosquamous lung carcinoma skos:exactMatch UMLS:C0279557 semapv:UnspecifiedMatching MONDO:0004974 adrenal gland pheochromocytoma skos:exactMatch DOID:0050892 adrenal gland pheochromocytoma semapv:UnspecifiedMatching MONDO:0004974 adrenal gland pheochromocytoma skos:exactMatch EFO:0000239 semapv:UnspecifiedMatching MONDO:0004974 adrenal gland pheochromocytoma skos:exactMatch MEDGEN:1636437 semapv:UnspecifiedMatching MONDO:0004974 adrenal gland pheochromocytoma skos:exactMatch NCIT:C3326 Adrenal Gland Pheochromocytoma semapv:UnspecifiedMatching MONDO:0004974 adrenal gland pheochromocytoma skos:exactMatch UMLS:C4551683 semapv:UnspecifiedMatching MONDO:0004975 Alzheimer disease skos:exactMatch DOID:10652 Alzheimer's disease semapv:UnspecifiedMatching MONDO:0004975 Alzheimer disease skos:exactMatch ICD10CM:G30 Alzheimer's disease semapv:UnspecifiedMatching MONDO:0004975 Alzheimer disease skos:exactMatch ICD10WHO:G30 Alzheimer disease semapv:UnspecifiedMatching MONDO:0004975 Alzheimer disease skos:exactMatch MEDGEN:1853 semapv:UnspecifiedMatching MONDO:0004975 Alzheimer disease skos:exactMatch NCIT:C2866 Alzheimer's Disease semapv:UnspecifiedMatching MONDO:0004975 Alzheimer disease skos:exactMatch SCTID:142811000119104 semapv:UnspecifiedMatching MONDO:0004975 Alzheimer disease skos:exactMatch UMLS:C0002395 semapv:UnspecifiedMatching MONDO:0004975 Alzheimer disease skos:exactMatch icd11.foundation:1611724421 Alzheimer disease semapv:UnspecifiedMatching MONDO:0004975 Alzheimer disease skos:exactMatch mesh:D000544 semapv:UnspecifiedMatching MONDO:0004976 amyotrophic lateral sclerosis skos:exactMatch DOID:332 amyotrophic lateral sclerosis semapv:UnspecifiedMatching MONDO:0004976 amyotrophic lateral sclerosis skos:exactMatch ICD10CM:G12.21 Amyotrophic lateral sclerosis semapv:UnspecifiedMatching MONDO:0004976 amyotrophic lateral sclerosis skos:exactMatch MEDGEN:274 semapv:UnspecifiedMatching MONDO:0004976 amyotrophic lateral sclerosis skos:exactMatch NCIT:C34373 Amyotrophic Lateral Sclerosis semapv:UnspecifiedMatching MONDO:0004976 amyotrophic lateral sclerosis skos:exactMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:UnspecifiedMatching MONDO:0004976 amyotrophic lateral sclerosis skos:exactMatch SCTID:86044005 semapv:UnspecifiedMatching MONDO:0004976 amyotrophic lateral sclerosis skos:exactMatch UMLS:C0002736 semapv:UnspecifiedMatching MONDO:0004976 amyotrophic lateral sclerosis skos:exactMatch icd11.foundation:1982355687 Amyotrophic lateral sclerosis semapv:UnspecifiedMatching MONDO:0004976 amyotrophic lateral sclerosis skos:exactMatch mesh:D000690 semapv:UnspecifiedMatching MONDO:0004977 angioimmunoblastic T-cell lymphoma skos:exactMatch DOID:0111147 angioimmunoblastic T-cell lymphoma semapv:UnspecifiedMatching MONDO:0004977 angioimmunoblastic T-cell lymphoma skos:exactMatch EFO:0000255 semapv:UnspecifiedMatching MONDO:0004977 angioimmunoblastic T-cell lymphoma skos:exactMatch ICD10CM:C86.5 Angioimmunoblastic T-cell lymphoma semapv:UnspecifiedMatching MONDO:0004977 angioimmunoblastic T-cell lymphoma skos:exactMatch MEDGEN:7025 semapv:UnspecifiedMatching MONDO:0004977 angioimmunoblastic T-cell lymphoma skos:exactMatch NCIT:C7528 Follicular Helper T-Cell Lymphoma, Angioimmunoblastic-Type semapv:UnspecifiedMatching MONDO:0004977 angioimmunoblastic T-cell lymphoma skos:exactMatch Orphanet:86886 Angioimmunoblastic T-cell lymphoma semapv:UnspecifiedMatching MONDO:0004977 angioimmunoblastic T-cell lymphoma skos:exactMatch SCTID:413537009 semapv:UnspecifiedMatching MONDO:0004977 angioimmunoblastic T-cell lymphoma skos:exactMatch UMLS:C0020981 semapv:UnspecifiedMatching MONDO:0004977 angioimmunoblastic T-cell lymphoma skos:exactMatch icd11.foundation:1254954229 Angioimmunoblastic T-cell lymphoma semapv:UnspecifiedMatching MONDO:0004977 angioimmunoblastic T-cell lymphoma skos:exactMatch mesh:D007119 semapv:UnspecifiedMatching MONDO:0004979 asthma skos:exactMatch DOID:2841 asthma semapv:UnspecifiedMatching MONDO:0004979 asthma skos:exactMatch ICD10CM:J45 Asthma semapv:UnspecifiedMatching MONDO:0004979 asthma skos:exactMatch ICD10WHO:J45 Asthma semapv:UnspecifiedMatching MONDO:0004979 asthma skos:exactMatch MEDGEN:2109 semapv:UnspecifiedMatching MONDO:0004979 asthma skos:exactMatch NCIT:C28397 Asthma semapv:UnspecifiedMatching MONDO:0004979 asthma skos:exactMatch SCTID:31387002 semapv:UnspecifiedMatching MONDO:0004979 asthma skos:exactMatch UMLS:C0004096 semapv:UnspecifiedMatching MONDO:0004979 asthma skos:exactMatch icd11.foundation:1656445230 Asthma semapv:UnspecifiedMatching MONDO:0004979 asthma skos:exactMatch mesh:D001249 semapv:UnspecifiedMatching MONDO:0004980 atopic eczema skos:exactMatch DOID:3310 atopic dermatitis semapv:UnspecifiedMatching MONDO:0004980 atopic eczema skos:exactMatch EFO:0000274 semapv:UnspecifiedMatching MONDO:0004980 atopic eczema skos:exactMatch ICD10CM:L20 Atopic dermatitis semapv:UnspecifiedMatching MONDO:0004980 atopic eczema skos:exactMatch MEDGEN:41502 semapv:UnspecifiedMatching MONDO:0004980 atopic eczema skos:exactMatch NCIT:C3001 Eczema semapv:UnspecifiedMatching MONDO:0004980 atopic eczema skos:exactMatch OMIM:603165 dermatitis, atopic semapv:UnspecifiedMatching MONDO:0004980 atopic eczema skos:exactMatch SCTID:200775004 semapv:UnspecifiedMatching MONDO:0004980 atopic eczema skos:exactMatch SCTID:24079001 semapv:UnspecifiedMatching MONDO:0004980 atopic eczema skos:exactMatch UMLS:C0011615 semapv:UnspecifiedMatching MONDO:0004980 atopic eczema skos:exactMatch icd11.foundation:215767047 Atopic eczema semapv:UnspecifiedMatching MONDO:0004980 atopic eczema skos:exactMatch mesh:D003876 semapv:UnspecifiedMatching MONDO:0004981 atrial fibrillation skos:exactMatch DOID:0060224 atrial fibrillation semapv:UnspecifiedMatching MONDO:0004981 atrial fibrillation skos:exactMatch EFO:0000275 semapv:UnspecifiedMatching MONDO:0004981 atrial fibrillation skos:exactMatch MEDGEN:445 semapv:UnspecifiedMatching MONDO:0004981 atrial fibrillation skos:exactMatch NCIT:C50466 Atrial Fibrillation semapv:UnspecifiedMatching MONDO:0004981 atrial fibrillation skos:exactMatch SCTID:49436004 semapv:UnspecifiedMatching MONDO:0004981 atrial fibrillation skos:exactMatch UMLS:C0004238 semapv:UnspecifiedMatching MONDO:0004981 atrial fibrillation skos:exactMatch icd11.foundation:171698302 Atrial fibrillation semapv:UnspecifiedMatching MONDO:0004981 atrial fibrillation skos:exactMatch mesh:D001281 semapv:UnspecifiedMatching MONDO:0004982 pancreatitis skos:exactMatch DOID:4989 pancreatitis semapv:UnspecifiedMatching MONDO:0004982 pancreatitis skos:exactMatch EFO:0000278 semapv:UnspecifiedMatching MONDO:0004982 pancreatitis skos:exactMatch MEDGEN:14586 semapv:UnspecifiedMatching MONDO:0004982 pancreatitis skos:exactMatch NCIT:C3306 Pancreatitis semapv:UnspecifiedMatching MONDO:0004982 pancreatitis skos:exactMatch SCTID:75694006 semapv:UnspecifiedMatching MONDO:0004982 pancreatitis skos:exactMatch UMLS:C0030305 semapv:UnspecifiedMatching MONDO:0004982 pancreatitis skos:exactMatch mesh:D010195 semapv:UnspecifiedMatching MONDO:0004983 spermatogenic failure skos:exactMatch DOID:0111910 spermatogenic failure semapv:UnspecifiedMatching MONDO:0004983 spermatogenic failure skos:exactMatch EFO:0000279 semapv:UnspecifiedMatching MONDO:0004983 spermatogenic failure skos:exactMatch MEDGEN:766708 semapv:UnspecifiedMatching MONDO:0004983 spermatogenic failure skos:exactMatch OMIMPS:258150 Spermatogenic failure semapv:UnspecifiedMatching MONDO:0004983 spermatogenic failure skos:exactMatch UMLS:C3553794 semapv:UnspecifiedMatching MONDO:0004984 basal-like breast carcinoma skos:exactMatch EFO:0000281 semapv:UnspecifiedMatching MONDO:0004984 basal-like breast carcinoma skos:exactMatch MEDGEN:770987 semapv:UnspecifiedMatching MONDO:0004984 basal-like breast carcinoma skos:exactMatch NCIT:C53558 Basal-Like Breast Carcinoma semapv:UnspecifiedMatching MONDO:0004984 basal-like breast carcinoma skos:exactMatch UMLS:C3642347 semapv:UnspecifiedMatching MONDO:0004985 bipolar disorder skos:exactMatch DOID:3312 bipolar disorder semapv:UnspecifiedMatching MONDO:0004985 bipolar disorder skos:exactMatch ICD10CM:F31 Bipolar disorder semapv:UnspecifiedMatching MONDO:0004985 bipolar disorder skos:exactMatch ICD10WHO:F31 Bipolar affective disorder semapv:UnspecifiedMatching MONDO:0004985 bipolar disorder skos:exactMatch MEDGEN:2649 semapv:UnspecifiedMatching MONDO:0004985 bipolar disorder skos:exactMatch NCIT:C34423 Bipolar Disorder semapv:UnspecifiedMatching MONDO:0004985 bipolar disorder skos:exactMatch SCTID:13746004 semapv:UnspecifiedMatching MONDO:0004985 bipolar disorder skos:exactMatch UMLS:C0005586 semapv:UnspecifiedMatching MONDO:0004985 bipolar disorder skos:exactMatch mesh:D001714 semapv:UnspecifiedMatching MONDO:0004986 urinary bladder carcinoma skos:exactMatch DOID:4007 bladder carcinoma semapv:UnspecifiedMatching MONDO:0004986 urinary bladder carcinoma skos:exactMatch MEDGEN:147071 semapv:UnspecifiedMatching MONDO:0004986 urinary bladder carcinoma skos:exactMatch NCIT:C4912 Bladder Carcinoma semapv:UnspecifiedMatching MONDO:0004986 urinary bladder carcinoma skos:exactMatch SCTID:255108000 semapv:UnspecifiedMatching MONDO:0004986 urinary bladder carcinoma skos:exactMatch UMLS:C0699885 semapv:UnspecifiedMatching MONDO:0004987 urinary bladder neoplasm skos:exactMatch EFO:0000294 semapv:UnspecifiedMatching MONDO:0004987 urinary bladder neoplasm skos:exactMatch MEDGEN:594 semapv:UnspecifiedMatching MONDO:0004987 urinary bladder neoplasm skos:exactMatch NCIT:C2901 Bladder Neoplasm semapv:UnspecifiedMatching MONDO:0004987 urinary bladder neoplasm skos:exactMatch SCTID:126885006 semapv:UnspecifiedMatching MONDO:0004987 urinary bladder neoplasm skos:exactMatch UMLS:C0005695 semapv:UnspecifiedMatching MONDO:0004988 breast adenocarcinoma skos:exactMatch DOID:3458 breast adenocarcinoma semapv:UnspecifiedMatching MONDO:0004988 breast adenocarcinoma skos:exactMatch EFO:0000304 semapv:UnspecifiedMatching MONDO:0004988 breast adenocarcinoma skos:exactMatch MEDGEN:167809 semapv:UnspecifiedMatching MONDO:0004988 breast adenocarcinoma skos:exactMatch NCIT:C5214 Breast Adenocarcinoma semapv:UnspecifiedMatching MONDO:0004988 breast adenocarcinoma skos:exactMatch UMLS:C0858252 semapv:UnspecifiedMatching MONDO:0004989 breast carcinoma skos:exactMatch DOID:3459 breast carcinoma semapv:UnspecifiedMatching MONDO:0004989 breast carcinoma skos:exactMatch EFO:0000305 semapv:UnspecifiedMatching MONDO:0004989 breast carcinoma skos:exactMatch MEDGEN:146260 semapv:UnspecifiedMatching MONDO:0004989 breast carcinoma skos:exactMatch NCIT:C4872 Breast Carcinoma semapv:UnspecifiedMatching MONDO:0004989 breast carcinoma skos:exactMatch SCTID:254838004 semapv:UnspecifiedMatching MONDO:0004989 breast carcinoma skos:exactMatch UMLS:C0678222 semapv:UnspecifiedMatching MONDO:0004990 breast tumor luminal A or B skos:exactMatch DOID:0060548 luminal breast carcinoma A semapv:UnspecifiedMatching MONDO:0004990 breast tumor luminal A or B skos:exactMatch EFO:0000306 semapv:UnspecifiedMatching MONDO:0004991 minimally invasive lung adenocarcinoma skos:exactMatch DOID:4926 bronchiolo-alveolar adenocarcinoma semapv:UnspecifiedMatching MONDO:0004991 minimally invasive lung adenocarcinoma skos:exactMatch EFO:0000308 semapv:UnspecifiedMatching MONDO:0004991 minimally invasive lung adenocarcinoma skos:exactMatch MEDGEN:2871 semapv:UnspecifiedMatching MONDO:0004991 minimally invasive lung adenocarcinoma skos:exactMatch NCIT:C2923 Minimally Invasive Lung Adenocarcinoma semapv:UnspecifiedMatching MONDO:0004991 minimally invasive lung adenocarcinoma skos:exactMatch SCTID:373627005 semapv:UnspecifiedMatching MONDO:0004991 minimally invasive lung adenocarcinoma skos:exactMatch UMLS:C0007120 semapv:UnspecifiedMatching MONDO:0004991 minimally invasive lung adenocarcinoma skos:exactMatch mesh:D002282 semapv:UnspecifiedMatching MONDO:0004992 cancer skos:exactMatch DOID:0050686 organ system cancer semapv:UnspecifiedMatching MONDO:0004992 cancer skos:exactMatch DOID:0050687 cell type cancer semapv:UnspecifiedMatching MONDO:0004992 cancer skos:exactMatch DOID:162 cancer semapv:UnspecifiedMatching MONDO:0004992 cancer skos:exactMatch MEDGEN:14297 semapv:UnspecifiedMatching MONDO:0004992 cancer skos:exactMatch NCIT:C9305 Malignant Neoplasm semapv:UnspecifiedMatching MONDO:0004992 cancer skos:exactMatch SCTID:363346000 semapv:UnspecifiedMatching MONDO:0004992 cancer skos:exactMatch UMLS:C0006826 semapv:UnspecifiedMatching MONDO:0004993 carcinoma skos:exactMatch DOID:305 carcinoma semapv:UnspecifiedMatching MONDO:0004993 carcinoma skos:exactMatch EFO:0000313 semapv:UnspecifiedMatching MONDO:0004993 carcinoma skos:exactMatch MEDGEN:2867 semapv:UnspecifiedMatching MONDO:0004993 carcinoma skos:exactMatch NCIT:C2916 Carcinoma semapv:UnspecifiedMatching MONDO:0004993 carcinoma skos:exactMatch SCTID:722688002 semapv:UnspecifiedMatching MONDO:0004993 carcinoma skos:exactMatch UMLS:C0007097 semapv:UnspecifiedMatching MONDO:0004993 carcinoma skos:exactMatch mesh:D002277 semapv:UnspecifiedMatching MONDO:0004994 cardiomyopathy skos:exactMatch DOID:0050700 cardiomyopathy semapv:UnspecifiedMatching MONDO:0004994 cardiomyopathy skos:exactMatch EFO:0000318 semapv:UnspecifiedMatching MONDO:0004994 cardiomyopathy skos:exactMatch ICD10CM:I42 Cardiomyopathy semapv:UnspecifiedMatching MONDO:0004994 cardiomyopathy skos:exactMatch ICD10WHO:I42 Cardiomyopathy semapv:UnspecifiedMatching MONDO:0004994 cardiomyopathy skos:exactMatch MEDGEN:209232 semapv:UnspecifiedMatching MONDO:0004994 cardiomyopathy skos:exactMatch NCIT:C34830 Cardiomyopathy semapv:UnspecifiedMatching MONDO:0004994 cardiomyopathy skos:exactMatch Orphanet:167848 Rare cardiomyopathy semapv:UnspecifiedMatching MONDO:0004994 cardiomyopathy skos:exactMatch SCTID:85898001 semapv:UnspecifiedMatching MONDO:0004994 cardiomyopathy skos:exactMatch UMLS:C0878544 semapv:UnspecifiedMatching MONDO:0004994 cardiomyopathy skos:exactMatch icd11.foundation:282225286 Cardiomyopathy semapv:UnspecifiedMatching MONDO:0004994 cardiomyopathy skos:exactMatch mesh:D009202 semapv:UnspecifiedMatching MONDO:0004995 cardiovascular disorder skos:broadMatch ICD10CM:I00-I99 Diseases of the circulatory system (I00-I99) semapv:UnspecifiedMatching MONDO:0004995 cardiovascular disorder skos:broadMatch icd11.foundation:426429380 Diseases of the circulatory system semapv:UnspecifiedMatching MONDO:0004995 cardiovascular disorder skos:exactMatch DOID:1287 cardiovascular system disease semapv:UnspecifiedMatching MONDO:0004995 cardiovascular disorder skos:exactMatch EFO:0000319 semapv:UnspecifiedMatching MONDO:0004995 cardiovascular disorder skos:exactMatch MEDGEN:2848 semapv:UnspecifiedMatching MONDO:0004995 cardiovascular disorder skos:exactMatch NCIT:C2931 Cardiovascular Disorder semapv:UnspecifiedMatching MONDO:0004995 cardiovascular disorder skos:exactMatch SCTID:49601007 semapv:UnspecifiedMatching MONDO:0004995 cardiovascular disorder skos:exactMatch UMLS:C0007222 semapv:UnspecifiedMatching MONDO:0004995 cardiovascular disorder skos:exactMatch icd11.foundation:424293435 Disorder of cardiovascular system semapv:UnspecifiedMatching MONDO:0004995 cardiovascular disorder skos:exactMatch mesh:D002318 semapv:UnspecifiedMatching MONDO:0004996 childhood acute myeloid leukemia skos:exactMatch DOID:0070323 childhood acute myeloid leukemia semapv:UnspecifiedMatching MONDO:0004996 childhood acute myeloid leukemia skos:exactMatch EFO:0000330 semapv:UnspecifiedMatching MONDO:0004996 childhood acute myeloid leukemia skos:exactMatch MEDGEN:65075 semapv:UnspecifiedMatching MONDO:0004996 childhood acute myeloid leukemia skos:exactMatch NCIT:C9160 Childhood Acute Myeloid Leukemia semapv:UnspecifiedMatching MONDO:0004996 childhood acute myeloid leukemia skos:exactMatch UMLS:C0220621 semapv:UnspecifiedMatching MONDO:0004997 chondroblastoma skos:exactMatch DOID:2649 chondroblastoma semapv:UnspecifiedMatching MONDO:0004997 chondroblastoma skos:exactMatch EFO:0000331 semapv:UnspecifiedMatching MONDO:0004997 chondroblastoma skos:exactMatch MEDGEN:40270 semapv:UnspecifiedMatching MONDO:0004997 chondroblastoma skos:exactMatch NCIT:C2945 Chondroblastoma semapv:UnspecifiedMatching MONDO:0004997 chondroblastoma skos:exactMatch UMLS:C0008441 semapv:UnspecifiedMatching MONDO:0004997 chondroblastoma skos:exactMatch mesh:D002804 semapv:UnspecifiedMatching MONDO:0005001 chronic gastritis skos:exactMatch EFO:0000337 semapv:UnspecifiedMatching MONDO:0005001 chronic gastritis skos:exactMatch MEDGEN:39089 semapv:UnspecifiedMatching MONDO:0005001 chronic gastritis skos:exactMatch NCIT:C26929 Chronic Gastritis semapv:UnspecifiedMatching MONDO:0005001 chronic gastritis skos:exactMatch SCTID:8493009 semapv:UnspecifiedMatching MONDO:0005001 chronic gastritis skos:exactMatch UMLS:C0085695 semapv:UnspecifiedMatching MONDO:0005002 chronic obstructive pulmonary disease skos:exactMatch DOID:3083 chronic obstructive pulmonary disease semapv:UnspecifiedMatching MONDO:0005002 chronic obstructive pulmonary disease skos:exactMatch EFO:0000341 semapv:UnspecifiedMatching MONDO:0005002 chronic obstructive pulmonary disease skos:exactMatch MEDGEN:9818 semapv:UnspecifiedMatching MONDO:0005002 chronic obstructive pulmonary disease skos:exactMatch NCIT:C3199 Chronic Obstructive Pulmonary Disease semapv:UnspecifiedMatching MONDO:0005002 chronic obstructive pulmonary disease skos:exactMatch OMIM:606963 pulmonary disease, chronic obstructive semapv:UnspecifiedMatching MONDO:0005002 chronic obstructive pulmonary disease skos:exactMatch SCTID:13645005 semapv:UnspecifiedMatching MONDO:0005002 chronic obstructive pulmonary disease skos:exactMatch UMLS:C0024117 semapv:UnspecifiedMatching MONDO:0005002 chronic obstructive pulmonary disease skos:exactMatch icd11.foundation:133207228 Chronic obstructive pulmonary disease semapv:UnspecifiedMatching MONDO:0005002 chronic obstructive pulmonary disease skos:exactMatch mesh:D029424 semapv:UnspecifiedMatching MONDO:0005003 chronic pancreatitis skos:exactMatch DOID:0051065 chronic pancreatitis semapv:UnspecifiedMatching MONDO:0005003 chronic pancreatitis skos:exactMatch EFO:0000342 semapv:UnspecifiedMatching MONDO:0005003 chronic pancreatitis skos:exactMatch MEDGEN:101753 semapv:UnspecifiedMatching MONDO:0005003 chronic pancreatitis skos:exactMatch NCIT:C84637 Chronic Pancreatitis semapv:UnspecifiedMatching MONDO:0005003 chronic pancreatitis skos:exactMatch SCTID:235494005 semapv:UnspecifiedMatching MONDO:0005003 chronic pancreatitis skos:exactMatch UMLS:C0149521 semapv:UnspecifiedMatching MONDO:0005003 chronic pancreatitis skos:exactMatch icd11.foundation:1758007371 Chronic pancreatitis semapv:UnspecifiedMatching MONDO:0005003 chronic pancreatitis skos:exactMatch mesh:D050500 semapv:UnspecifiedMatching MONDO:0005004 clear cell adenocarcinoma skos:exactMatch DOID:4468 clear cell adenocarcinoma semapv:UnspecifiedMatching MONDO:0005004 clear cell adenocarcinoma skos:exactMatch EFO:0000348 semapv:UnspecifiedMatching MONDO:0005004 clear cell adenocarcinoma skos:exactMatch MEDGEN:64629 semapv:UnspecifiedMatching MONDO:0005004 clear cell adenocarcinoma skos:exactMatch NCIT:C3766 Clear Cell Adenocarcinoma semapv:UnspecifiedMatching MONDO:0005004 clear cell adenocarcinoma skos:exactMatch UMLS:C0206681 semapv:UnspecifiedMatching MONDO:0005004 clear cell adenocarcinoma skos:exactMatch mesh:D018262 semapv:UnspecifiedMatching MONDO:0005005 clear cell renal carcinoma skos:exactMatch DOID:4467 clear cell renal cell carcinoma semapv:UnspecifiedMatching MONDO:0005005 clear cell renal carcinoma skos:exactMatch EFO:0000349 semapv:UnspecifiedMatching MONDO:0005005 clear cell renal carcinoma skos:exactMatch MEDGEN:76018 semapv:UnspecifiedMatching MONDO:0005005 clear cell renal carcinoma skos:exactMatch NCIT:C4033 Clear Cell Renal Cell Carcinoma semapv:UnspecifiedMatching MONDO:0005005 clear cell renal carcinoma skos:exactMatch Orphanet:319276 Clear cell renal carcinoma semapv:UnspecifiedMatching MONDO:0005005 clear cell renal carcinoma skos:exactMatch SCTID:254915003 semapv:UnspecifiedMatching MONDO:0005005 clear cell renal carcinoma skos:exactMatch UMLS:C0279702 semapv:UnspecifiedMatching MONDO:0005006 clear cell sarcoma of kidney skos:exactMatch DOID:4880 kidney clear cell sarcoma semapv:UnspecifiedMatching MONDO:0005006 clear cell sarcoma of kidney skos:exactMatch EFO:0000350 semapv:UnspecifiedMatching MONDO:0005006 clear cell sarcoma of kidney skos:exactMatch MEDGEN:90791 semapv:UnspecifiedMatching MONDO:0005006 clear cell sarcoma of kidney skos:exactMatch NCIT:C4264 Clear Cell Sarcoma of the Kidney semapv:UnspecifiedMatching MONDO:0005006 clear cell sarcoma of kidney skos:exactMatch Orphanet:457246 Clear cell sarcoma of kidney semapv:UnspecifiedMatching MONDO:0005006 clear cell sarcoma of kidney skos:exactMatch UMLS:C0334488 semapv:UnspecifiedMatching MONDO:0005007 colon mucinous adenocarcinoma skos:exactMatch DOID:3029 colon mucinous adenocarcinoma semapv:UnspecifiedMatching MONDO:0005007 colon mucinous adenocarcinoma skos:exactMatch EFO:0000364 semapv:UnspecifiedMatching MONDO:0005007 colon mucinous adenocarcinoma skos:exactMatch MEDGEN:76007 semapv:UnspecifiedMatching MONDO:0005007 colon mucinous adenocarcinoma skos:exactMatch NCIT:C7966 Colon Mucinous Adenocarcinoma semapv:UnspecifiedMatching MONDO:0005007 colon mucinous adenocarcinoma skos:exactMatch UMLS:C0279639 semapv:UnspecifiedMatching MONDO:0005008 colorectal adenocarcinoma skos:exactMatch DOID:0050861 colorectal adenocarcinoma semapv:UnspecifiedMatching MONDO:0005008 colorectal adenocarcinoma skos:exactMatch DOID:0050913 large intestine adenocarcinoma semapv:UnspecifiedMatching MONDO:0005008 colorectal adenocarcinoma skos:exactMatch EFO:0000365 semapv:UnspecifiedMatching MONDO:0005008 colorectal adenocarcinoma skos:exactMatch MEDGEN:230816 semapv:UnspecifiedMatching MONDO:0005008 colorectal adenocarcinoma skos:exactMatch NCIT:C5105 Colorectal Adenocarcinoma semapv:UnspecifiedMatching MONDO:0005008 colorectal adenocarcinoma skos:exactMatch SCTID:408645001 semapv:UnspecifiedMatching MONDO:0005008 colorectal adenocarcinoma skos:exactMatch UMLS:C1319315 semapv:UnspecifiedMatching MONDO:0005009 congestive heart failure skos:exactMatch DOID:6000 congestive heart failure semapv:UnspecifiedMatching MONDO:0005009 congestive heart failure skos:exactMatch EFO:0000373 semapv:UnspecifiedMatching MONDO:0005009 congestive heart failure skos:exactMatch MEDGEN:9169 semapv:UnspecifiedMatching MONDO:0005009 congestive heart failure skos:exactMatch NCIT:C3080 Congestive Heart Failure semapv:UnspecifiedMatching MONDO:0005009 congestive heart failure skos:exactMatch SCTID:42343007 semapv:UnspecifiedMatching MONDO:0005009 congestive heart failure skos:exactMatch UMLS:C0018802 semapv:UnspecifiedMatching MONDO:0005009 congestive heart failure skos:exactMatch icd11.foundation:2136808878 Congestive heart failure semapv:UnspecifiedMatching MONDO:0005010 coronary artery disorder skos:exactMatch DOID:3393 coronary artery disease semapv:UnspecifiedMatching MONDO:0005010 coronary artery disorder skos:exactMatch EFO:0001645 semapv:UnspecifiedMatching MONDO:0005010 coronary artery disorder skos:exactMatch MEDGEN:365486 semapv:UnspecifiedMatching MONDO:0005010 coronary artery disorder skos:exactMatch NCIT:C26732 Coronary Artery Disease semapv:UnspecifiedMatching MONDO:0005010 coronary artery disorder skos:exactMatch SCTID:414024009 semapv:UnspecifiedMatching MONDO:0005010 coronary artery disorder skos:exactMatch UMLS:C1956346 semapv:UnspecifiedMatching MONDO:0005010 coronary artery disorder skos:exactMatch icd11.foundation:1059873720 Diseases of coronary artery semapv:UnspecifiedMatching MONDO:0005010 coronary artery disorder skos:exactMatch mesh:D003324 semapv:UnspecifiedMatching MONDO:0005011 Crohn disease skos:exactMatch DOID:8778 Crohn's disease semapv:UnspecifiedMatching MONDO:0005011 Crohn disease skos:exactMatch EFO:0000384 semapv:UnspecifiedMatching MONDO:0005011 Crohn disease skos:exactMatch ICD10CM:K50 Crohn's disease [regional enteritis] semapv:UnspecifiedMatching MONDO:0005011 Crohn disease skos:exactMatch MEDGEN:3664 semapv:UnspecifiedMatching MONDO:0005011 Crohn disease skos:exactMatch NCIT:C2965 Crohn Disease semapv:UnspecifiedMatching MONDO:0005011 Crohn disease skos:exactMatch SCTID:7620006 semapv:UnspecifiedMatching MONDO:0005011 Crohn disease skos:exactMatch UMLS:C0010346 semapv:UnspecifiedMatching MONDO:0005011 Crohn disease skos:exactMatch icd11.foundation:1267652425 Crohn disease semapv:UnspecifiedMatching MONDO:0005011 Crohn disease skos:exactMatch mesh:D003424 semapv:UnspecifiedMatching MONDO:0005012 cutaneous melanoma skos:exactMatch DOID:8923 skin melanoma semapv:UnspecifiedMatching MONDO:0005012 cutaneous melanoma skos:exactMatch EFO:0000389 semapv:UnspecifiedMatching MONDO:0005012 cutaneous melanoma skos:exactMatch ICD10CM:C43 Malignant melanoma of skin semapv:UnspecifiedMatching MONDO:0005012 cutaneous melanoma skos:exactMatch MEDGEN:57486 semapv:UnspecifiedMatching MONDO:0005012 cutaneous melanoma skos:exactMatch NCIT:C3510 Cutaneous Melanoma semapv:UnspecifiedMatching MONDO:0005012 cutaneous melanoma skos:exactMatch SCTID:93655004 semapv:UnspecifiedMatching MONDO:0005012 cutaneous melanoma skos:exactMatch UMLS:C0151779 semapv:UnspecifiedMatching MONDO:0005013 dedifferentiated chondrosarcoma skos:exactMatch DOID:0081247 dedifferentiated chondrosarcoma semapv:UnspecifiedMatching MONDO:0005013 dedifferentiated chondrosarcoma skos:exactMatch EFO:0000394 semapv:UnspecifiedMatching MONDO:0005013 dedifferentiated chondrosarcoma skos:exactMatch MEDGEN:209021 semapv:UnspecifiedMatching MONDO:0005013 dedifferentiated chondrosarcoma skos:exactMatch NCIT:C6476 Dedifferentiated Chondrosarcoma semapv:UnspecifiedMatching MONDO:0005013 dedifferentiated chondrosarcoma skos:exactMatch UMLS:C0862878 semapv:UnspecifiedMatching MONDO:0005015 diabetes mellitus skos:exactMatch DOID:9351 diabetes mellitus semapv:UnspecifiedMatching MONDO:0005015 diabetes mellitus skos:exactMatch EFO:0000400 semapv:UnspecifiedMatching MONDO:0005015 diabetes mellitus skos:exactMatch ICD10CM:E08-E13 Diabetes mellitus (E08-E13) semapv:UnspecifiedMatching MONDO:0005015 diabetes mellitus skos:exactMatch ICD10WHO:E10-E14 Diabetes mellitus semapv:UnspecifiedMatching MONDO:0005015 diabetes mellitus skos:exactMatch MEDGEN:8350 semapv:UnspecifiedMatching MONDO:0005015 diabetes mellitus skos:exactMatch NCIT:C2985 Diabetes Mellitus semapv:UnspecifiedMatching MONDO:0005015 diabetes mellitus skos:exactMatch SCTID:73211009 semapv:UnspecifiedMatching MONDO:0005015 diabetes mellitus skos:exactMatch UMLS:C0011849 semapv:UnspecifiedMatching MONDO:0005015 diabetes mellitus skos:exactMatch icd11.foundation:465177735 Diabetes mellitus semapv:UnspecifiedMatching MONDO:0005015 diabetes mellitus skos:exactMatch mesh:D003920 semapv:UnspecifiedMatching MONDO:0005016 diabetic kidney disease skos:exactMatch EFO:0000401 semapv:UnspecifiedMatching MONDO:0005016 diabetic kidney disease skos:exactMatch MEDGEN:8352 semapv:UnspecifiedMatching MONDO:0005016 diabetic kidney disease skos:exactMatch NCIT:C84417 Diabetic Nephropathy semapv:UnspecifiedMatching MONDO:0005016 diabetic kidney disease skos:exactMatch SCTID:127013003 semapv:UnspecifiedMatching MONDO:0005016 diabetic kidney disease skos:exactMatch UMLS:C0011881 semapv:UnspecifiedMatching MONDO:0005016 diabetic kidney disease skos:exactMatch icd11.foundation:615062102 Diabetic kidney disease semapv:UnspecifiedMatching MONDO:0005016 diabetic kidney disease skos:exactMatch mesh:D003928 semapv:UnspecifiedMatching MONDO:0005017 diffuse gastric adenocarcinoma skos:exactMatch DOID:6217 gastric diffuse adenocarcinoma semapv:UnspecifiedMatching MONDO:0005017 diffuse gastric adenocarcinoma skos:exactMatch EFO:0000402 semapv:UnspecifiedMatching MONDO:0005017 diffuse gastric adenocarcinoma skos:exactMatch MEDGEN:79019 semapv:UnspecifiedMatching MONDO:0005017 diffuse gastric adenocarcinoma skos:exactMatch NCIT:C9159 Gastric Diffuse Adenocarcinoma semapv:UnspecifiedMatching MONDO:0005017 diffuse gastric adenocarcinoma skos:exactMatch UMLS:C0279635 semapv:UnspecifiedMatching MONDO:0005019 diffuse scleroderma skos:exactMatch DOID:1580 diffuse scleroderma semapv:UnspecifiedMatching MONDO:0005019 diffuse scleroderma skos:exactMatch EFO:0000404 semapv:UnspecifiedMatching MONDO:0005019 diffuse scleroderma skos:exactMatch MEDGEN:219839 semapv:UnspecifiedMatching MONDO:0005019 diffuse scleroderma skos:exactMatch UMLS:C1258104 semapv:UnspecifiedMatching MONDO:0005019 diffuse scleroderma skos:exactMatch mesh:D045743 semapv:UnspecifiedMatching MONDO:0005020 intestinal disorder skos:exactMatch DOID:5295 intestinal disease semapv:UnspecifiedMatching MONDO:0005020 intestinal disorder skos:exactMatch EFO:0009431 semapv:UnspecifiedMatching MONDO:0005020 intestinal disorder skos:exactMatch MEDGEN:7130 semapv:UnspecifiedMatching MONDO:0005020 intestinal disorder skos:exactMatch NCIT:C26801 Intestinal Disorder semapv:UnspecifiedMatching MONDO:0005020 intestinal disorder skos:exactMatch SCTID:85919009 semapv:UnspecifiedMatching MONDO:0005020 intestinal disorder skos:exactMatch UMLS:C0021831 semapv:UnspecifiedMatching MONDO:0005020 intestinal disorder skos:exactMatch mesh:D007410 semapv:UnspecifiedMatching MONDO:0005021 dilated cardiomyopathy skos:exactMatch DOID:12930 dilated cardiomyopathy semapv:UnspecifiedMatching MONDO:0005021 dilated cardiomyopathy skos:exactMatch EFO:0000407 semapv:UnspecifiedMatching MONDO:0005021 dilated cardiomyopathy skos:exactMatch ICD10CM:I42.0 Dilated cardiomyopathy semapv:UnspecifiedMatching MONDO:0005021 dilated cardiomyopathy skos:exactMatch MEDGEN:2880 semapv:UnspecifiedMatching MONDO:0005021 dilated cardiomyopathy skos:exactMatch NCIT:C84673 Dilated Cardiomyopathy semapv:UnspecifiedMatching MONDO:0005021 dilated cardiomyopathy skos:exactMatch Orphanet:217604 Dilated cardiomyopathy semapv:UnspecifiedMatching MONDO:0005021 dilated cardiomyopathy skos:exactMatch SCTID:195021004 semapv:UnspecifiedMatching MONDO:0005021 dilated cardiomyopathy skos:exactMatch UMLS:C0007193 semapv:UnspecifiedMatching MONDO:0005021 dilated cardiomyopathy skos:exactMatch icd11.foundation:1916294688 Dilated cardiomyopathy semapv:UnspecifiedMatching MONDO:0005021 dilated cardiomyopathy skos:exactMatch mesh:D002311 semapv:UnspecifiedMatching MONDO:0005023 ductal breast carcinoma in situ skos:exactMatch DOID:0060074 ductal carcinoma in situ semapv:UnspecifiedMatching MONDO:0005023 ductal breast carcinoma in situ skos:exactMatch EFO:0000432 semapv:UnspecifiedMatching MONDO:0005023 ductal breast carcinoma in situ skos:exactMatch MEDGEN:765 semapv:UnspecifiedMatching MONDO:0005023 ductal breast carcinoma in situ skos:exactMatch NCIT:C2924 Breast Ductal Carcinoma In Situ semapv:UnspecifiedMatching MONDO:0005023 ductal breast carcinoma in situ skos:exactMatch UMLS:C0007124 semapv:UnspecifiedMatching MONDO:0005023 ductal breast carcinoma in situ skos:exactMatch mesh:D002285 semapv:UnspecifiedMatching MONDO:0005025 endocarditis skos:exactMatch DOID:10314 endocarditis semapv:UnspecifiedMatching MONDO:0005025 endocarditis skos:exactMatch EFO:0000465 semapv:UnspecifiedMatching MONDO:0005025 endocarditis skos:exactMatch MEDGEN:4940 semapv:UnspecifiedMatching MONDO:0005025 endocarditis skos:exactMatch NCIT:C34582 Endocarditis semapv:UnspecifiedMatching MONDO:0005025 endocarditis skos:exactMatch SCTID:56819008 semapv:UnspecifiedMatching MONDO:0005025 endocarditis skos:exactMatch UMLS:C0014118 semapv:UnspecifiedMatching MONDO:0005025 endocarditis skos:exactMatch mesh:D004696 semapv:UnspecifiedMatching MONDO:0005026 endometrioid adenocarcinoma skos:exactMatch EFO:0000466 semapv:UnspecifiedMatching MONDO:0005026 endometrioid adenocarcinoma skos:exactMatch MEDGEN:293976 semapv:UnspecifiedMatching MONDO:0005026 endometrioid adenocarcinoma skos:exactMatch NCIT:C3769 Endometrioid Adenocarcinoma semapv:UnspecifiedMatching MONDO:0005026 endometrioid adenocarcinoma skos:exactMatch UMLS:C1569637 semapv:UnspecifiedMatching MONDO:0005027 epilepsy skos:exactMatch DOID:1826 epilepsy semapv:UnspecifiedMatching MONDO:0005027 epilepsy skos:exactMatch EFO:0000474 semapv:UnspecifiedMatching MONDO:0005027 epilepsy skos:exactMatch ICD10CM:G40 Epilepsy and recurrent seizures semapv:UnspecifiedMatching MONDO:0005027 epilepsy skos:exactMatch ICD10WHO:G40 Epilepsy semapv:UnspecifiedMatching MONDO:0005027 epilepsy skos:exactMatch MEDGEN:4506 semapv:UnspecifiedMatching MONDO:0005027 epilepsy skos:exactMatch NCIT:C3020 Seizure Disorder semapv:UnspecifiedMatching MONDO:0005027 epilepsy skos:exactMatch SCTID:84757009 semapv:UnspecifiedMatching MONDO:0005027 epilepsy skos:exactMatch UMLS:C0014544 semapv:UnspecifiedMatching MONDO:0005027 epilepsy skos:exactMatch mesh:D004827 semapv:UnspecifiedMatching MONDO:0005028 esophageal adenocarcinoma skos:exactMatch DOID:4914 esophagus adenocarcinoma semapv:UnspecifiedMatching MONDO:0005028 esophageal adenocarcinoma skos:exactMatch EFO:0000478 semapv:UnspecifiedMatching MONDO:0005028 esophageal adenocarcinoma skos:exactMatch MEDGEN:124636 semapv:UnspecifiedMatching MONDO:0005028 esophageal adenocarcinoma skos:exactMatch NCIT:C4025 Esophageal Adenocarcinoma semapv:UnspecifiedMatching MONDO:0005028 esophageal adenocarcinoma skos:exactMatch Orphanet:99976 Adenocarcinoma of the oesophagus and oesophagogastric junction semapv:UnspecifiedMatching MONDO:0005028 esophageal adenocarcinoma skos:exactMatch SCTID:276803003 semapv:UnspecifiedMatching MONDO:0005028 esophageal adenocarcinoma skos:exactMatch UMLS:C0279628 semapv:UnspecifiedMatching MONDO:0005028 esophageal adenocarcinoma skos:exactMatch icd11.foundation:829915640 Adenocarcinoma of oesophagus semapv:UnspecifiedMatching MONDO:0005029 essential thrombocythemia skos:exactMatch DOID:2224 essential thrombocythemia semapv:UnspecifiedMatching MONDO:0005029 essential thrombocythemia skos:exactMatch EFO:0000479 semapv:UnspecifiedMatching MONDO:0005029 essential thrombocythemia skos:exactMatch ICD10CM:D47.3 Essential (hemorrhagic) thrombocythemia semapv:UnspecifiedMatching MONDO:0005029 essential thrombocythemia skos:exactMatch MEDGEN:11797 semapv:UnspecifiedMatching MONDO:0005029 essential thrombocythemia skos:exactMatch NCIT:C3407 Essential Thrombocythemia semapv:UnspecifiedMatching MONDO:0005029 essential thrombocythemia skos:exactMatch Orphanet:3318 Essential thrombocythemia semapv:UnspecifiedMatching MONDO:0005029 essential thrombocythemia skos:exactMatch SCTID:109994006 semapv:UnspecifiedMatching MONDO:0005029 essential thrombocythemia skos:exactMatch UMLS:C0040028 semapv:UnspecifiedMatching MONDO:0005029 essential thrombocythemia skos:exactMatch mesh:D013920 semapv:UnspecifiedMatching MONDO:0005030 fetal growth restriction skos:exactMatch EFO:0000495 semapv:UnspecifiedMatching MONDO:0005030 fetal growth restriction skos:exactMatch MEDGEN:4693 semapv:UnspecifiedMatching MONDO:0005030 fetal growth restriction skos:exactMatch NCIT:C114875 Fetus Small for Gestational Age semapv:UnspecifiedMatching MONDO:0005030 fetal growth restriction skos:exactMatch SCTID:22033007 semapv:UnspecifiedMatching MONDO:0005030 fetal growth restriction skos:exactMatch UMLS:C0015934 semapv:UnspecifiedMatching MONDO:0005030 fetal growth restriction skos:exactMatch mesh:D005317 semapv:UnspecifiedMatching MONDO:0005031 fibromatosis skos:exactMatch EFO:0000497 semapv:UnspecifiedMatching MONDO:0005031 fibromatosis skos:exactMatch MEDGEN:8836 semapv:UnspecifiedMatching MONDO:0005031 fibromatosis skos:exactMatch NCIT:C3042 Fibromatosis semapv:UnspecifiedMatching MONDO:0005031 fibromatosis skos:exactMatch SCTID:723976005 semapv:UnspecifiedMatching MONDO:0005031 fibromatosis skos:exactMatch UMLS:C0016048 semapv:UnspecifiedMatching MONDO:0005032 follicular thyroid adenoma skos:exactMatch DOID:2891 thyroid adenoma semapv:UnspecifiedMatching MONDO:0005032 follicular thyroid adenoma skos:exactMatch DOID:6204 follicular adenoma semapv:UnspecifiedMatching MONDO:0005032 follicular thyroid adenoma skos:exactMatch EFO:0000499 semapv:UnspecifiedMatching MONDO:0005032 follicular thyroid adenoma skos:exactMatch NCIT:C3502 Thyroid Gland Follicular Adenoma semapv:UnspecifiedMatching MONDO:0005032 follicular thyroid adenoma skos:exactMatch SCTID:255033000 semapv:UnspecifiedMatching MONDO:0005032 follicular thyroid adenoma skos:exactMatch SCTID:255034006 semapv:UnspecifiedMatching MONDO:0005033 ganglioneuroma skos:exactMatch DOID:4817 ganglioneuroma semapv:UnspecifiedMatching MONDO:0005033 ganglioneuroma skos:exactMatch EFO:0000500 semapv:UnspecifiedMatching MONDO:0005033 ganglioneuroma skos:exactMatch MEDGEN:6545 semapv:UnspecifiedMatching MONDO:0005033 ganglioneuroma skos:exactMatch NCIT:C3049 Ganglioneuroma semapv:UnspecifiedMatching MONDO:0005033 ganglioneuroma skos:exactMatch Orphanet:251992 Ganglioneuroma semapv:UnspecifiedMatching MONDO:0005033 ganglioneuroma skos:exactMatch SCTID:116371000119107 semapv:UnspecifiedMatching MONDO:0005033 ganglioneuroma skos:exactMatch UMLS:C0017075 semapv:UnspecifiedMatching MONDO:0005034 thyroid gland follicular carcinoma skos:exactMatch DOID:3962 follicular thyroid carcinoma semapv:UnspecifiedMatching MONDO:0005034 thyroid gland follicular carcinoma skos:exactMatch EFO:0000501 semapv:UnspecifiedMatching MONDO:0005034 thyroid gland follicular carcinoma skos:exactMatch MEDGEN:64630 semapv:UnspecifiedMatching MONDO:0005034 thyroid gland follicular carcinoma skos:exactMatch NCIT:C8054 Thyroid Gland Follicular Carcinoma semapv:UnspecifiedMatching MONDO:0005034 thyroid gland follicular carcinoma skos:exactMatch SCTID:255028004 semapv:UnspecifiedMatching MONDO:0005034 thyroid gland follicular carcinoma skos:exactMatch UMLS:C0206682 semapv:UnspecifiedMatching MONDO:0005034 thyroid gland follicular carcinoma skos:exactMatch mesh:D018263 semapv:UnspecifiedMatching MONDO:0005035 ganglioneuroblastoma skos:exactMatch DOID:4163 ganglioneuroblastoma semapv:UnspecifiedMatching MONDO:0005035 ganglioneuroblastoma skos:exactMatch EFO:0000502 semapv:UnspecifiedMatching MONDO:0005035 ganglioneuroblastoma skos:exactMatch MEDGEN:60218 semapv:UnspecifiedMatching MONDO:0005035 ganglioneuroblastoma skos:exactMatch NCIT:C3790 Ganglioneuroblastoma semapv:UnspecifiedMatching MONDO:0005035 ganglioneuroblastoma skos:exactMatch Orphanet:251877 Ganglioneuroblastoma semapv:UnspecifiedMatching MONDO:0005035 ganglioneuroblastoma skos:exactMatch SCTID:116381000119105 semapv:UnspecifiedMatching MONDO:0005035 ganglioneuroblastoma skos:exactMatch UMLS:C0206718 semapv:UnspecifiedMatching MONDO:0005035 ganglioneuroblastoma skos:exactMatch mesh:D018305 semapv:UnspecifiedMatching MONDO:0005036 gastric adenocarcinoma skos:exactMatch DOID:3717 gastric adenocarcinoma semapv:UnspecifiedMatching MONDO:0005036 gastric adenocarcinoma skos:exactMatch EFO:0000503 semapv:UnspecifiedMatching MONDO:0005036 gastric adenocarcinoma skos:exactMatch MEDGEN:82961 semapv:UnspecifiedMatching MONDO:0005036 gastric adenocarcinoma skos:exactMatch NCIT:C4004 Gastric Adenocarcinoma semapv:UnspecifiedMatching MONDO:0005036 gastric adenocarcinoma skos:exactMatch SCTID:408647009 semapv:UnspecifiedMatching MONDO:0005036 gastric adenocarcinoma skos:exactMatch UMLS:C0278701 semapv:UnspecifiedMatching MONDO:0005036 gastric adenocarcinoma skos:exactMatch icd11.foundation:1855471719 Adenocarcinoma of stomach semapv:UnspecifiedMatching MONDO:0005037 gastric intestinal type adenocarcinoma skos:exactMatch EFO:0000504 semapv:UnspecifiedMatching MONDO:0005037 gastric intestinal type adenocarcinoma skos:exactMatch MEDGEN:79017 semapv:UnspecifiedMatching MONDO:0005037 gastric intestinal type adenocarcinoma skos:exactMatch NCIT:C9157 Gastric Intestinal-Type Adenocarcinoma semapv:UnspecifiedMatching MONDO:0005037 gastric intestinal type adenocarcinoma skos:exactMatch UMLS:C0279633 semapv:UnspecifiedMatching MONDO:0005039 reproductive system disorder skos:exactMatch DOID:15 reproductive system disease semapv:UnspecifiedMatching MONDO:0005039 reproductive system disorder skos:exactMatch EFO:0000512 semapv:UnspecifiedMatching MONDO:0005039 reproductive system disorder skos:exactMatch MEDGEN:61253 semapv:UnspecifiedMatching MONDO:0005039 reproductive system disorder skos:exactMatch NCIT:C4875 Reproductive System Disorder semapv:UnspecifiedMatching MONDO:0005039 reproductive system disorder skos:exactMatch SCTID:362968007 semapv:UnspecifiedMatching MONDO:0005039 reproductive system disorder skos:exactMatch UMLS:C0178829 semapv:UnspecifiedMatching MONDO:0005040 germ cell tumor skos:exactMatch DOID:2994 germ cell cancer semapv:UnspecifiedMatching MONDO:0005040 germ cell tumor skos:exactMatch EFO:0000514 semapv:UnspecifiedMatching MONDO:0005040 germ cell tumor skos:exactMatch MEDGEN:60030 semapv:UnspecifiedMatching MONDO:0005040 germ cell tumor skos:exactMatch NCIT:C3708 Germ Cell Tumor semapv:UnspecifiedMatching MONDO:0005040 germ cell tumor skos:exactMatch UMLS:C0205851 semapv:UnspecifiedMatching MONDO:0005041 glaucoma skos:exactMatch DOID:1686 glaucoma semapv:UnspecifiedMatching MONDO:0005041 glaucoma skos:exactMatch ICD10CM:H40 Glaucoma semapv:UnspecifiedMatching MONDO:0005041 glaucoma skos:exactMatch ICD10CM:H40-H42 Glaucoma (H40-H42) semapv:UnspecifiedMatching MONDO:0005041 glaucoma skos:exactMatch ICD10WHO:H40 Glaucoma semapv:UnspecifiedMatching MONDO:0005041 glaucoma skos:exactMatch ICD10WHO:H40-H42 Glaucoma semapv:UnspecifiedMatching MONDO:0005041 glaucoma skos:exactMatch MEDGEN:42224 semapv:UnspecifiedMatching MONDO:0005041 glaucoma skos:exactMatch NCIT:C26782 Glaucoma semapv:UnspecifiedMatching MONDO:0005041 glaucoma skos:exactMatch SCTID:23986001 semapv:UnspecifiedMatching MONDO:0005041 glaucoma skos:exactMatch UMLS:C0017601 semapv:UnspecifiedMatching MONDO:0005041 glaucoma skos:exactMatch icd11.foundation:499924848 Glaucoma semapv:UnspecifiedMatching MONDO:0005041 glaucoma skos:exactMatch mesh:D005901 semapv:UnspecifiedMatching MONDO:0005042 obsolete head disorder skos:exactMatch SCTID:118934005 semapv:UnspecifiedMatching MONDO:0005043 hyperplasia skos:exactMatch EFO:0000536 semapv:UnspecifiedMatching MONDO:0005043 hyperplasia skos:exactMatch MEDGEN:43784 semapv:UnspecifiedMatching MONDO:0005043 hyperplasia skos:exactMatch NCIT:C3113 Hyperplasia semapv:UnspecifiedMatching MONDO:0005043 hyperplasia skos:exactMatch UMLS:C0020507 semapv:UnspecifiedMatching MONDO:0005043 hyperplasia skos:exactMatch mesh:D006965 semapv:UnspecifiedMatching MONDO:0005044 hypertensive disorder skos:exactMatch DOID:10763 hypertension semapv:UnspecifiedMatching MONDO:0005044 hypertensive disorder skos:exactMatch EFO:0000537 semapv:UnspecifiedMatching MONDO:0005044 hypertensive disorder skos:exactMatch ICD10CM:I10-I16 semapv:UnspecifiedMatching MONDO:0005044 hypertensive disorder skos:exactMatch ICD10CM:I15 Secondary hypertension semapv:UnspecifiedMatching MONDO:0005044 hypertensive disorder skos:exactMatch MEDGEN:6969 semapv:UnspecifiedMatching MONDO:0005044 hypertensive disorder skos:exactMatch NCIT:C3117 Hypertension semapv:UnspecifiedMatching MONDO:0005044 hypertensive disorder skos:exactMatch SCTID:38341003 semapv:UnspecifiedMatching MONDO:0005044 hypertensive disorder skos:exactMatch UMLS:C0020538 semapv:UnspecifiedMatching MONDO:0005044 hypertensive disorder skos:exactMatch mesh:D006973 semapv:UnspecifiedMatching MONDO:0005045 hypertrophic cardiomyopathy skos:exactMatch DOID:11984 hypertrophic cardiomyopathy semapv:UnspecifiedMatching MONDO:0005045 hypertrophic cardiomyopathy skos:exactMatch EFO:0000538 semapv:UnspecifiedMatching MONDO:0005045 hypertrophic cardiomyopathy skos:exactMatch MEDGEN:2881 semapv:UnspecifiedMatching MONDO:0005045 hypertrophic cardiomyopathy skos:exactMatch NCIT:C34449 Hypertrophic Cardiomyopathy semapv:UnspecifiedMatching MONDO:0005045 hypertrophic cardiomyopathy skos:exactMatch Orphanet:217569 Rare hypertrophic cardiomyopathy semapv:UnspecifiedMatching MONDO:0005045 hypertrophic cardiomyopathy skos:exactMatch SCTID:233873004 semapv:UnspecifiedMatching MONDO:0005045 hypertrophic cardiomyopathy skos:exactMatch UMLS:C0007194 semapv:UnspecifiedMatching MONDO:0005045 hypertrophic cardiomyopathy skos:exactMatch icd11.foundation:1830681485 Hypertrophic cardiomyopathy semapv:UnspecifiedMatching MONDO:0005045 hypertrophic cardiomyopathy skos:exactMatch mesh:D002312 semapv:UnspecifiedMatching MONDO:0005046 immune system disorder skos:exactMatch DOID:2914 immune system disease semapv:UnspecifiedMatching MONDO:0005046 immune system disorder skos:exactMatch EFO:0000540 semapv:UnspecifiedMatching MONDO:0005046 immune system disorder skos:exactMatch MEDGEN:5759 semapv:UnspecifiedMatching MONDO:0005046 immune system disorder skos:exactMatch NCIT:C3507 Immune System Disorder semapv:UnspecifiedMatching MONDO:0005046 immune system disorder skos:exactMatch SCTID:414029004 semapv:UnspecifiedMatching MONDO:0005046 immune system disorder skos:exactMatch UMLS:C0021053 semapv:UnspecifiedMatching MONDO:0005046 immune system disorder skos:exactMatch mesh:D007154 semapv:UnspecifiedMatching MONDO:0005047 infertility disorder skos:exactMatch DOID:5223 infertility semapv:UnspecifiedMatching MONDO:0005047 infertility disorder skos:exactMatch EFO:0000545 semapv:UnspecifiedMatching MONDO:0005047 infertility disorder skos:exactMatch MEDGEN:43876 semapv:UnspecifiedMatching MONDO:0005047 infertility disorder skos:exactMatch NCIT:C3836 Infertility semapv:UnspecifiedMatching MONDO:0005047 infertility disorder skos:exactMatch UMLS:C0021359 semapv:UnspecifiedMatching MONDO:0005047 infertility disorder skos:exactMatch mesh:D007246 semapv:UnspecifiedMatching MONDO:0005048 pancreatic insulin-producing neuroendocrine tumor skos:exactMatch EFO:0000549 semapv:UnspecifiedMatching MONDO:0005048 pancreatic insulin-producing neuroendocrine tumor skos:exactMatch MEDGEN:1844884 semapv:UnspecifiedMatching MONDO:0005048 pancreatic insulin-producing neuroendocrine tumor skos:exactMatch NCIT:C3140 Pancreatic Insulin-Producing Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO:0005048 pancreatic insulin-producing neuroendocrine tumor skos:exactMatch Orphanet:97279 Insulinoma semapv:UnspecifiedMatching MONDO:0005048 pancreatic insulin-producing neuroendocrine tumor skos:exactMatch UMLS:C5848150 semapv:UnspecifiedMatching MONDO:0005049 obsolete intracranial hemorrhage skos:exactMatch mesh:D020300 semapv:UnspecifiedMatching MONDO:0005050 invasive ductal and lobular carcinoma skos:exactMatch EFO:0000552 semapv:UnspecifiedMatching MONDO:0005050 invasive ductal and lobular carcinoma skos:exactMatch MEDGEN:235231 semapv:UnspecifiedMatching MONDO:0005050 invasive ductal and lobular carcinoma skos:exactMatch NCIT:C7688 Invasive Breast Ductal Carcinoma and Lobular Carcinoma semapv:UnspecifiedMatching MONDO:0005050 invasive ductal and lobular carcinoma skos:exactMatch UMLS:C1334277 semapv:UnspecifiedMatching MONDO:0005051 invasive lobular breast carcinoma skos:exactMatch DOID:3457 invasive lobular carcinoma semapv:UnspecifiedMatching MONDO:0005051 invasive lobular breast carcinoma skos:exactMatch EFO:0000553 semapv:UnspecifiedMatching MONDO:0005051 invasive lobular breast carcinoma skos:exactMatch MEDGEN:75994 semapv:UnspecifiedMatching MONDO:0005051 invasive lobular breast carcinoma skos:exactMatch NCIT:C7950 Invasive Breast Lobular Carcinoma semapv:UnspecifiedMatching MONDO:0005051 invasive lobular breast carcinoma skos:exactMatch UMLS:C0279565 semapv:UnspecifiedMatching MONDO:0005052 irritable bowel syndrome skos:exactMatch DOID:9778 irritable bowel syndrome semapv:UnspecifiedMatching MONDO:0005052 irritable bowel syndrome skos:exactMatch EFO:0000555 semapv:UnspecifiedMatching MONDO:0005052 irritable bowel syndrome skos:exactMatch ICD10CM:K58 Irritable bowel syndrome semapv:UnspecifiedMatching MONDO:0005052 irritable bowel syndrome skos:exactMatch ICD10WHO:K58 Irritable bowel syndrome semapv:UnspecifiedMatching MONDO:0005052 irritable bowel syndrome skos:exactMatch MEDGEN:5897 semapv:UnspecifiedMatching MONDO:0005052 irritable bowel syndrome skos:exactMatch NCIT:C82343 Irritable Bowel Syndrome semapv:UnspecifiedMatching MONDO:0005052 irritable bowel syndrome skos:exactMatch SCTID:10743008 semapv:UnspecifiedMatching MONDO:0005052 irritable bowel syndrome skos:exactMatch UMLS:C0022104 semapv:UnspecifiedMatching MONDO:0005052 irritable bowel syndrome skos:exactMatch icd11.foundation:1158238623 Irritable bowel syndrome semapv:UnspecifiedMatching MONDO:0005052 irritable bowel syndrome skos:exactMatch mesh:D043183 semapv:UnspecifiedMatching MONDO:0005053 ischemic disease skos:exactMatch DOID:326 ischemia semapv:UnspecifiedMatching MONDO:0005053 ischemic disease skos:exactMatch MEDGEN:5899 semapv:UnspecifiedMatching MONDO:0005053 ischemic disease skos:exactMatch NCIT:C34738 Ischemia semapv:UnspecifiedMatching MONDO:0005053 ischemic disease skos:exactMatch SCTID:52674009 semapv:UnspecifiedMatching MONDO:0005053 ischemic disease skos:exactMatch UMLS:C0022116 semapv:UnspecifiedMatching MONDO:0005053 ischemic disease skos:exactMatch mesh:D007511 semapv:UnspecifiedMatching MONDO:0005055 Kaposi's sarcoma skos:exactMatch DOID:8632 Kaposi's sarcoma semapv:UnspecifiedMatching MONDO:0005055 Kaposi's sarcoma skos:exactMatch EFO:0000558 semapv:UnspecifiedMatching MONDO:0005055 Kaposi's sarcoma skos:exactMatch ICD10CM:C46 Kaposi's sarcoma semapv:UnspecifiedMatching MONDO:0005055 Kaposi's sarcoma skos:exactMatch MEDGEN:11321 semapv:UnspecifiedMatching MONDO:0005055 Kaposi's sarcoma skos:exactMatch NCIT:C9087 Kaposi Sarcoma semapv:UnspecifiedMatching MONDO:0005055 Kaposi's sarcoma skos:exactMatch Orphanet:33276 Kaposi sarcoma semapv:UnspecifiedMatching MONDO:0005055 Kaposi's sarcoma skos:exactMatch SCTID:109385007 semapv:UnspecifiedMatching MONDO:0005055 Kaposi's sarcoma skos:exactMatch UMLS:C0036220 semapv:UnspecifiedMatching MONDO:0005055 Kaposi's sarcoma skos:exactMatch mesh:D012514 semapv:UnspecifiedMatching MONDO:0005056 keratinizing squamous cell carcinoma skos:exactMatch DOID:5521 keratinizing squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0005056 keratinizing squamous cell carcinoma skos:exactMatch EFO:0000559 semapv:UnspecifiedMatching MONDO:0005056 keratinizing squamous cell carcinoma skos:exactMatch MEDGEN:137730 semapv:UnspecifiedMatching MONDO:0005056 keratinizing squamous cell carcinoma skos:exactMatch NCIT:C4105 Keratinizing Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0005056 keratinizing squamous cell carcinoma skos:exactMatch UMLS:C0334247 semapv:UnspecifiedMatching MONDO:0005057 large cell neuroendocrine carcinoma skos:exactMatch DOID:0050872 large cell neuroendocrine carcinoma semapv:UnspecifiedMatching MONDO:0005057 large cell neuroendocrine carcinoma skos:exactMatch EFO:0000563 semapv:UnspecifiedMatching MONDO:0005057 large cell neuroendocrine carcinoma skos:exactMatch MEDGEN:220402 semapv:UnspecifiedMatching MONDO:0005057 large cell neuroendocrine carcinoma skos:exactMatch NCIT:C6875 Large Cell Neuroendocrine Carcinoma semapv:UnspecifiedMatching MONDO:0005057 large cell neuroendocrine carcinoma skos:exactMatch UMLS:C1265996 semapv:UnspecifiedMatching MONDO:0005057 large cell neuroendocrine carcinoma skos:exactMatch icd11.foundation:1278312485 semapv:UnspecifiedMatching MONDO:0005058 leiomyosarcoma skos:exactMatch DOID:1967 leiomyosarcoma semapv:UnspecifiedMatching MONDO:0005058 leiomyosarcoma skos:exactMatch EFO:0000564 semapv:UnspecifiedMatching MONDO:0005058 leiomyosarcoma skos:exactMatch MEDGEN:9711 semapv:UnspecifiedMatching MONDO:0005058 leiomyosarcoma skos:exactMatch NCIT:C3158 Leiomyosarcoma semapv:UnspecifiedMatching MONDO:0005058 leiomyosarcoma skos:exactMatch Orphanet:64720 Leiomyosarcoma semapv:UnspecifiedMatching MONDO:0005058 leiomyosarcoma skos:exactMatch SCTID:443719001 semapv:UnspecifiedMatching MONDO:0005058 leiomyosarcoma skos:exactMatch UMLS:C0023269 semapv:UnspecifiedMatching MONDO:0005058 leiomyosarcoma skos:exactMatch mesh:D007890 semapv:UnspecifiedMatching MONDO:0005059 leukemia skos:exactMatch DOID:1240 leukemia semapv:UnspecifiedMatching MONDO:0005059 leukemia skos:exactMatch EFO:0000565 semapv:UnspecifiedMatching MONDO:0005059 leukemia skos:exactMatch MEDGEN:9725 semapv:UnspecifiedMatching MONDO:0005059 leukemia skos:exactMatch NCIT:C3161 Leukemia semapv:UnspecifiedMatching MONDO:0005059 leukemia skos:exactMatch SCTID:93143009 semapv:UnspecifiedMatching MONDO:0005059 leukemia skos:exactMatch UMLS:C0023418 semapv:UnspecifiedMatching MONDO:0005059 leukemia skos:exactMatch mesh:D007938 semapv:UnspecifiedMatching MONDO:0005060 liposarcoma skos:exactMatch DOID:3382 liposarcoma semapv:UnspecifiedMatching MONDO:0005060 liposarcoma skos:exactMatch EFO:0000569 semapv:UnspecifiedMatching MONDO:0005060 liposarcoma skos:exactMatch MEDGEN:44177 semapv:UnspecifiedMatching MONDO:0005060 liposarcoma skos:exactMatch NCIT:C3194 Liposarcoma semapv:UnspecifiedMatching MONDO:0005060 liposarcoma skos:exactMatch Orphanet:69078 Liposarcoma semapv:UnspecifiedMatching MONDO:0005060 liposarcoma skos:exactMatch SCTID:254829001 semapv:UnspecifiedMatching MONDO:0005060 liposarcoma skos:exactMatch UMLS:C0023827 semapv:UnspecifiedMatching MONDO:0005060 liposarcoma skos:exactMatch mesh:D008080 semapv:UnspecifiedMatching MONDO:0005061 lung adenocarcinoma skos:exactMatch DOID:3910 lung adenocarcinoma semapv:UnspecifiedMatching MONDO:0005061 lung adenocarcinoma skos:exactMatch EFO:0000571 semapv:UnspecifiedMatching MONDO:0005061 lung adenocarcinoma skos:exactMatch MEDGEN:57744 semapv:UnspecifiedMatching MONDO:0005061 lung adenocarcinoma skos:exactMatch NCIT:C3512 Lung Adenocarcinoma semapv:UnspecifiedMatching MONDO:0005061 lung adenocarcinoma skos:exactMatch SCTID:254626006 semapv:UnspecifiedMatching MONDO:0005061 lung adenocarcinoma skos:exactMatch UMLS:C0152013 semapv:UnspecifiedMatching MONDO:0005061 lung adenocarcinoma skos:exactMatch mesh:C538231 semapv:UnspecifiedMatching MONDO:0005062 lymphoma skos:exactMatch DOID:0060058 lymphoma semapv:UnspecifiedMatching MONDO:0005062 lymphoma skos:exactMatch EFO:0000574 semapv:UnspecifiedMatching MONDO:0005062 lymphoma skos:exactMatch MEDGEN:44223 semapv:UnspecifiedMatching MONDO:0005062 lymphoma skos:exactMatch NCIT:C3208 Lymphoma semapv:UnspecifiedMatching MONDO:0005062 lymphoma skos:exactMatch Orphanet:223735 Lymphoma semapv:UnspecifiedMatching MONDO:0005062 lymphoma skos:exactMatch SCTID:118600007 semapv:UnspecifiedMatching MONDO:0005062 lymphoma skos:exactMatch UMLS:C0024299 semapv:UnspecifiedMatching MONDO:0005062 lymphoma skos:exactMatch mesh:D008223 semapv:UnspecifiedMatching MONDO:0005063 medullary breast carcinoma skos:exactMatch DOID:5605 breast medullary carcinoma semapv:UnspecifiedMatching MONDO:0005063 medullary breast carcinoma skos:exactMatch EFO:0000580 semapv:UnspecifiedMatching MONDO:0005063 medullary breast carcinoma skos:exactMatch MEDGEN:163568 semapv:UnspecifiedMatching MONDO:0005063 medullary breast carcinoma skos:exactMatch NCIT:C9119 Breast Medullary Carcinoma semapv:UnspecifiedMatching MONDO:0005063 medullary breast carcinoma skos:exactMatch UMLS:C0860580 semapv:UnspecifiedMatching MONDO:0005065 mesothelioma skos:exactMatch EFO:0000588 semapv:UnspecifiedMatching MONDO:0005065 mesothelioma skos:exactMatch ICD10CM:C45 Mesothelioma semapv:UnspecifiedMatching MONDO:0005065 mesothelioma skos:exactMatch MEDGEN:9975 semapv:UnspecifiedMatching MONDO:0005065 mesothelioma skos:exactMatch UMLS:C0025500 semapv:UnspecifiedMatching MONDO:0005065 mesothelioma skos:exactMatch mesh:D008654 semapv:UnspecifiedMatching MONDO:0005066 metabolic disease skos:exactMatch DOID:0014667 disease of metabolism semapv:UnspecifiedMatching MONDO:0005066 metabolic disease skos:exactMatch EFO:0000589 semapv:UnspecifiedMatching MONDO:0005066 metabolic disease skos:exactMatch ICD10CM:E70-E88 Metabolic disorders (E70-E88) semapv:UnspecifiedMatching MONDO:0005066 metabolic disease skos:exactMatch ICD10WHO:E70-E90 Metabolic disorders semapv:UnspecifiedMatching MONDO:0005066 metabolic disease skos:exactMatch MEDGEN:44376 semapv:UnspecifiedMatching MONDO:0005066 metabolic disease skos:exactMatch NCIT:C3235 Metabolic Disorder semapv:UnspecifiedMatching MONDO:0005066 metabolic disease skos:exactMatch SCTID:75934005 semapv:UnspecifiedMatching MONDO:0005066 metabolic disease skos:exactMatch UMLS:C0025517 semapv:UnspecifiedMatching MONDO:0005066 metabolic disease skos:exactMatch mesh:D008659 semapv:UnspecifiedMatching MONDO:0005067 monophasic synovial sarcoma skos:exactMatch DOID:5495 monophasic synovial sarcoma semapv:UnspecifiedMatching MONDO:0005067 monophasic synovial sarcoma skos:exactMatch EFO:0000595 semapv:UnspecifiedMatching MONDO:0005067 monophasic synovial sarcoma skos:exactMatch MEDGEN:233719 semapv:UnspecifiedMatching MONDO:0005067 monophasic synovial sarcoma skos:exactMatch NCIT:C6534 Monophasic Synovial Sarcoma semapv:UnspecifiedMatching MONDO:0005067 monophasic synovial sarcoma skos:exactMatch UMLS:C1334801 semapv:UnspecifiedMatching MONDO:0005068 myocardial infarction skos:exactMatch DOID:5844 myocardial infarction semapv:UnspecifiedMatching MONDO:0005068 myocardial infarction skos:exactMatch EFO:0000612 semapv:UnspecifiedMatching MONDO:0005068 myocardial infarction skos:exactMatch ICD10CM:I21 Acute myocardial infarction semapv:UnspecifiedMatching MONDO:0005068 myocardial infarction skos:exactMatch MEDGEN:10150 semapv:UnspecifiedMatching MONDO:0005068 myocardial infarction skos:exactMatch NCIT:C27996 Myocardial Infarction semapv:UnspecifiedMatching MONDO:0005068 myocardial infarction skos:exactMatch SCTID:22298006 semapv:UnspecifiedMatching MONDO:0005068 myocardial infarction skos:exactMatch UMLS:C0027051 semapv:UnspecifiedMatching MONDO:0005068 myocardial infarction skos:exactMatch mesh:D009203 semapv:UnspecifiedMatching MONDO:0005070 neoplasm skos:exactMatch DOID:14566 disease of cellular proliferation semapv:UnspecifiedMatching MONDO:0005070 neoplasm skos:exactMatch EFO:0000616 semapv:UnspecifiedMatching MONDO:0005070 neoplasm skos:exactMatch ICD10CM:C00-D49 Neoplasms (C00-D49) semapv:UnspecifiedMatching MONDO:0005070 neoplasm skos:exactMatch MEDGEN:10294 semapv:UnspecifiedMatching MONDO:0005070 neoplasm skos:exactMatch NCIT:C3262 Neoplasm semapv:UnspecifiedMatching MONDO:0005070 neoplasm skos:exactMatch SCTID:55342001 semapv:UnspecifiedMatching MONDO:0005070 neoplasm skos:exactMatch UMLS:C0027651 semapv:UnspecifiedMatching MONDO:0005070 neoplasm skos:exactMatch mesh:D009369 semapv:UnspecifiedMatching MONDO:0005071 nervous system disorder skos:exactMatch DOID:863 nervous system disease semapv:UnspecifiedMatching MONDO:0005071 nervous system disorder skos:exactMatch EFO:0000618 semapv:UnspecifiedMatching MONDO:0005071 nervous system disorder skos:exactMatch ICD10CM:G00-G99 Diseases of the nervous system (G00-G99) semapv:UnspecifiedMatching MONDO:0005071 nervous system disorder skos:exactMatch MEDGEN:14336 semapv:UnspecifiedMatching MONDO:0005071 nervous system disorder skos:exactMatch NCIT:C26835 Nervous System Disorder semapv:UnspecifiedMatching MONDO:0005071 nervous system disorder skos:exactMatch SCTID:118940003 semapv:UnspecifiedMatching MONDO:0005071 nervous system disorder skos:exactMatch UMLS:C0027765 semapv:UnspecifiedMatching MONDO:0005071 nervous system disorder skos:exactMatch mesh:D009422 semapv:UnspecifiedMatching MONDO:0005072 neuroblastoma skos:exactMatch DOID:769 neuroblastoma semapv:UnspecifiedMatching MONDO:0005072 neuroblastoma skos:exactMatch EFO:0000621 semapv:UnspecifiedMatching MONDO:0005072 neuroblastoma skos:exactMatch MEDGEN:18012 semapv:UnspecifiedMatching MONDO:0005072 neuroblastoma skos:exactMatch NCIT:C3270 Neuroblastoma semapv:UnspecifiedMatching MONDO:0005072 neuroblastoma skos:exactMatch Orphanet:635 Neuroblastoma semapv:UnspecifiedMatching MONDO:0005072 neuroblastoma skos:exactMatch SCTID:432328008 semapv:UnspecifiedMatching MONDO:0005072 neuroblastoma skos:exactMatch UMLS:C0027819 semapv:UnspecifiedMatching MONDO:0005072 neuroblastoma skos:exactMatch mesh:D009447 semapv:UnspecifiedMatching MONDO:0005073 melanocytic nevus skos:exactMatch EFO:0009675 semapv:UnspecifiedMatching MONDO:0005073 melanocytic nevus skos:exactMatch MEDGEN:14364 semapv:UnspecifiedMatching MONDO:0005073 melanocytic nevus skos:exactMatch NCIT:C7570 Nevus semapv:UnspecifiedMatching MONDO:0005073 melanocytic nevus skos:exactMatch SCTID:400096001 semapv:UnspecifiedMatching MONDO:0005073 melanocytic nevus skos:exactMatch UMLS:C0027962 semapv:UnspecifiedMatching MONDO:0005073 melanocytic nevus skos:exactMatch mesh:D009506 semapv:UnspecifiedMatching MONDO:0005074 papillary cystadenocarcinoma skos:exactMatch DOID:3110 papillary cystadenocarcinoma semapv:UnspecifiedMatching MONDO:0005074 papillary cystadenocarcinoma skos:exactMatch EFO:0000639 semapv:UnspecifiedMatching MONDO:0005074 papillary cystadenocarcinoma skos:exactMatch MEDGEN:64635 semapv:UnspecifiedMatching MONDO:0005074 papillary cystadenocarcinoma skos:exactMatch NCIT:C3777 Papillary Cystadenocarcinoma semapv:UnspecifiedMatching MONDO:0005074 papillary cystadenocarcinoma skos:exactMatch UMLS:C0206700 semapv:UnspecifiedMatching MONDO:0005074 papillary cystadenocarcinoma skos:exactMatch mesh:D018283 semapv:UnspecifiedMatching MONDO:0005075 thyroid gland papillary carcinoma skos:exactMatch DOID:3969 papillary thyroid carcinoma semapv:UnspecifiedMatching MONDO:0005075 thyroid gland papillary carcinoma skos:exactMatch EFO:0000641 semapv:UnspecifiedMatching MONDO:0005075 thyroid gland papillary carcinoma skos:exactMatch MEDGEN:66773 semapv:UnspecifiedMatching MONDO:0005075 thyroid gland papillary carcinoma skos:exactMatch NCIT:C4035 Thyroid Gland Papillary Carcinoma semapv:UnspecifiedMatching MONDO:0005075 thyroid gland papillary carcinoma skos:exactMatch SCTID:255029007 semapv:UnspecifiedMatching MONDO:0005075 thyroid gland papillary carcinoma skos:exactMatch UMLS:C0238463 semapv:UnspecifiedMatching MONDO:0005076 periodontitis skos:exactMatch DOID:824 periodontitis semapv:UnspecifiedMatching MONDO:0005076 periodontitis skos:exactMatch DOID:9893 periodontosis semapv:UnspecifiedMatching MONDO:0005076 periodontitis skos:exactMatch EFO:0000649 semapv:UnspecifiedMatching MONDO:0005076 periodontitis skos:exactMatch ICD10CM:K05.4 Periodontosis semapv:UnspecifiedMatching MONDO:0005076 periodontitis skos:exactMatch MEDGEN:45815 semapv:UnspecifiedMatching MONDO:0005076 periodontitis skos:exactMatch NCIT:C34918 Periodontitis semapv:UnspecifiedMatching MONDO:0005076 periodontitis skos:exactMatch SCTID:41565005 semapv:UnspecifiedMatching MONDO:0005076 periodontitis skos:exactMatch UMLS:C0031099 semapv:UnspecifiedMatching MONDO:0005076 periodontitis skos:exactMatch mesh:D010518 semapv:UnspecifiedMatching MONDO:0005077 pertussis skos:exactMatch DOID:1116 pertussis semapv:UnspecifiedMatching MONDO:0005077 pertussis skos:exactMatch EFO:0000650 semapv:UnspecifiedMatching MONDO:0005077 pertussis skos:exactMatch MEDGEN:12159 semapv:UnspecifiedMatching MONDO:0005077 pertussis skos:exactMatch NCIT:C85231 Whooping Cough semapv:UnspecifiedMatching MONDO:0005077 pertussis skos:exactMatch Orphanet:1489 Whooping cough semapv:UnspecifiedMatching MONDO:0005077 pertussis skos:exactMatch SCTID:27836007 semapv:UnspecifiedMatching MONDO:0005077 pertussis skos:exactMatch UMLS:C0043167 semapv:UnspecifiedMatching MONDO:0005077 pertussis skos:exactMatch mesh:D014917 semapv:UnspecifiedMatching MONDO:0005078 phyllodes tumor skos:exactMatch EFO:0000653 semapv:UnspecifiedMatching MONDO:0005078 phyllodes tumor skos:exactMatch MEDGEN:1209 semapv:UnspecifiedMatching MONDO:0005078 phyllodes tumor skos:exactMatch NCIT:C2977 Phyllodes Tumor semapv:UnspecifiedMatching MONDO:0005078 phyllodes tumor skos:exactMatch UMLS:C0010701 semapv:UnspecifiedMatching MONDO:0005078 phyllodes tumor skos:exactMatch mesh:D003557 semapv:UnspecifiedMatching MONDO:0005079 polyp skos:exactMatch EFO:0000662 semapv:UnspecifiedMatching MONDO:0005079 polyp skos:exactMatch ICD10CM:N84 Polyp of female genital tract semapv:UnspecifiedMatching MONDO:0005079 polyp skos:exactMatch MEDGEN:19397 semapv:UnspecifiedMatching MONDO:0005079 polyp skos:exactMatch NCIT:C3340 Polyp semapv:UnspecifiedMatching MONDO:0005079 polyp skos:exactMatch SCTID:441456002 semapv:UnspecifiedMatching MONDO:0005079 polyp skos:exactMatch UMLS:C0032584 semapv:UnspecifiedMatching MONDO:0005079 polyp skos:exactMatch mesh:D011127 semapv:UnspecifiedMatching MONDO:0005080 portal hypertension skos:exactMatch DOID:10762 portal hypertension semapv:UnspecifiedMatching MONDO:0005080 portal hypertension skos:exactMatch EFO:0000666 semapv:UnspecifiedMatching MONDO:0005080 portal hypertension skos:exactMatch ICD10CM:K76.6 Portal hypertension semapv:UnspecifiedMatching MONDO:0005080 portal hypertension skos:exactMatch MEDGEN:9375 semapv:UnspecifiedMatching MONDO:0005080 portal hypertension skos:exactMatch NCIT:C3119 Portal Hypertension semapv:UnspecifiedMatching MONDO:0005080 portal hypertension skos:exactMatch SCTID:34742003 semapv:UnspecifiedMatching MONDO:0005080 portal hypertension skos:exactMatch UMLS:C0020541 semapv:UnspecifiedMatching MONDO:0005080 portal hypertension skos:exactMatch icd11.foundation:1506184775 Portal hypertension semapv:UnspecifiedMatching MONDO:0005080 portal hypertension skos:exactMatch mesh:D006975 semapv:UnspecifiedMatching MONDO:0005081 preeclampsia skos:exactMatch DOID:10591 pre-eclampsia semapv:UnspecifiedMatching MONDO:0005081 preeclampsia skos:exactMatch EFO:0000668 semapv:UnspecifiedMatching MONDO:0005081 preeclampsia skos:exactMatch ICD10CM:O14 Pre-eclampsia semapv:UnspecifiedMatching MONDO:0005081 preeclampsia skos:exactMatch MEDGEN:18608 semapv:UnspecifiedMatching MONDO:0005081 preeclampsia skos:exactMatch NCIT:C85021 Preeclampsia semapv:UnspecifiedMatching MONDO:0005081 preeclampsia skos:exactMatch OMIMPS:189800 Preeclampsia/eclampsia semapv:UnspecifiedMatching MONDO:0005081 preeclampsia skos:exactMatch Orphanet:275555 Preeclampsia semapv:UnspecifiedMatching MONDO:0005081 preeclampsia skos:exactMatch SCTID:398254007 semapv:UnspecifiedMatching MONDO:0005081 preeclampsia skos:exactMatch UMLS:C0032914 semapv:UnspecifiedMatching MONDO:0005081 preeclampsia skos:exactMatch icd11.foundation:229121159 Pre-eclampsia semapv:UnspecifiedMatching MONDO:0005081 preeclampsia skos:exactMatch mesh:D011225 semapv:UnspecifiedMatching MONDO:0005082 prostate adenocarcinoma skos:exactMatch DOID:2526 prostate adenocarcinoma semapv:UnspecifiedMatching MONDO:0005082 prostate adenocarcinoma skos:exactMatch EFO:0000673 semapv:UnspecifiedMatching MONDO:0005082 prostate adenocarcinoma skos:exactMatch MEDGEN:764 semapv:UnspecifiedMatching MONDO:0005082 prostate adenocarcinoma skos:exactMatch NCIT:C2919 Prostate Adenocarcinoma semapv:UnspecifiedMatching MONDO:0005082 prostate adenocarcinoma skos:exactMatch SCTID:399490008 semapv:UnspecifiedMatching MONDO:0005082 prostate adenocarcinoma skos:exactMatch UMLS:C0007112 semapv:UnspecifiedMatching MONDO:0005083 psoriasis skos:exactMatch DOID:8893 psoriasis semapv:UnspecifiedMatching MONDO:0005083 psoriasis skos:exactMatch EFO:0000676 semapv:UnspecifiedMatching MONDO:0005083 psoriasis skos:exactMatch ICD10CM:L40 Psoriasis semapv:UnspecifiedMatching MONDO:0005083 psoriasis skos:exactMatch ICD10WHO:L40 Psoriasis semapv:UnspecifiedMatching MONDO:0005083 psoriasis skos:exactMatch MEDGEN:10997 semapv:UnspecifiedMatching MONDO:0005083 psoriasis skos:exactMatch NCIT:C3346 Psoriasis semapv:UnspecifiedMatching MONDO:0005083 psoriasis skos:exactMatch OMIMPS:177900 Psoriasis semapv:UnspecifiedMatching MONDO:0005083 psoriasis skos:exactMatch SCTID:9014002 semapv:UnspecifiedMatching MONDO:0005083 psoriasis skos:exactMatch UMLS:C0033860 semapv:UnspecifiedMatching MONDO:0005083 psoriasis skos:exactMatch icd11.foundation:63698555 Psoriasis semapv:UnspecifiedMatching MONDO:0005083 psoriasis skos:exactMatch mesh:D011565 semapv:UnspecifiedMatching MONDO:0005084 mental disorder skos:exactMatch EFO:0000677 semapv:UnspecifiedMatching MONDO:0005084 mental disorder skos:exactMatch MEDGEN:14047 semapv:UnspecifiedMatching MONDO:0005084 mental disorder skos:exactMatch SCTID:74732009 semapv:UnspecifiedMatching MONDO:0005084 mental disorder skos:exactMatch UMLS:C0004936 semapv:UnspecifiedMatching MONDO:0005085 pterygium skos:exactMatch DOID:0002116 pterygium semapv:UnspecifiedMatching MONDO:0005085 pterygium skos:exactMatch EFO:0000678 semapv:UnspecifiedMatching MONDO:0005085 pterygium skos:exactMatch ICD10CM:H11.0 Pterygium of eye semapv:UnspecifiedMatching MONDO:0005085 pterygium skos:exactMatch MEDGEN:46202 semapv:UnspecifiedMatching MONDO:0005085 pterygium skos:exactMatch NCIT:C133744 Pterygium semapv:UnspecifiedMatching MONDO:0005085 pterygium skos:exactMatch SCTID:77489003 semapv:UnspecifiedMatching MONDO:0005085 pterygium skos:exactMatch UMLS:C0033999 semapv:UnspecifiedMatching MONDO:0005085 pterygium skos:exactMatch icd11.foundation:1207385905 Pterygium semapv:UnspecifiedMatching MONDO:0005085 pterygium skos:exactMatch mesh:D011625 semapv:UnspecifiedMatching MONDO:0005086 renal cell carcinoma skos:exactMatch DOID:4450 renal cell carcinoma semapv:UnspecifiedMatching MONDO:0005086 renal cell carcinoma skos:exactMatch EFO:0000681 semapv:UnspecifiedMatching MONDO:0005086 renal cell carcinoma skos:exactMatch MEDGEN:766 semapv:UnspecifiedMatching MONDO:0005086 renal cell carcinoma skos:exactMatch Orphanet:217071 Renal cell carcinoma semapv:UnspecifiedMatching MONDO:0005086 renal cell carcinoma skos:exactMatch SCTID:702391001 semapv:UnspecifiedMatching MONDO:0005086 renal cell carcinoma skos:exactMatch UMLS:C0007134 semapv:UnspecifiedMatching MONDO:0005086 renal cell carcinoma skos:exactMatch mesh:D002292 semapv:UnspecifiedMatching MONDO:0005087 respiratory system disorder skos:exactMatch DOID:1579 respiratory system disease semapv:UnspecifiedMatching MONDO:0005087 respiratory system disorder skos:exactMatch EFO:0000684 semapv:UnspecifiedMatching MONDO:0005087 respiratory system disorder skos:exactMatch ICD10CM:J00-J99 Diseases of the respiratory system (J00-J99) semapv:UnspecifiedMatching MONDO:0005087 respiratory system disorder skos:exactMatch MEDGEN:48421 semapv:UnspecifiedMatching MONDO:0005087 respiratory system disorder skos:exactMatch NCIT:C26871 Respiratory System Disorder semapv:UnspecifiedMatching MONDO:0005087 respiratory system disorder skos:exactMatch SCTID:50043002 semapv:UnspecifiedMatching MONDO:0005087 respiratory system disorder skos:exactMatch UMLS:C0035204 semapv:UnspecifiedMatching MONDO:0005087 respiratory system disorder skos:exactMatch mesh:D012140 semapv:UnspecifiedMatching MONDO:0005089 sarcoma skos:exactMatch DOID:1115 sarcoma semapv:UnspecifiedMatching MONDO:0005089 sarcoma skos:exactMatch EFO:0000691 semapv:UnspecifiedMatching MONDO:0005089 sarcoma skos:exactMatch MEDGEN:224714 semapv:UnspecifiedMatching MONDO:0005089 sarcoma skos:exactMatch NCIT:C9118 Sarcoma semapv:UnspecifiedMatching MONDO:0005089 sarcoma skos:exactMatch SCTID:424413001 semapv:UnspecifiedMatching MONDO:0005089 sarcoma skos:exactMatch UMLS:C1261473 semapv:UnspecifiedMatching MONDO:0005089 sarcoma skos:exactMatch mesh:D012509 semapv:UnspecifiedMatching MONDO:0005090 schizophrenia skos:exactMatch DOID:5419 schizophrenia semapv:UnspecifiedMatching MONDO:0005090 schizophrenia skos:exactMatch ICD10CM:F20 Schizophrenia semapv:UnspecifiedMatching MONDO:0005090 schizophrenia skos:exactMatch ICD10WHO:F20 Schizophrenia semapv:UnspecifiedMatching MONDO:0005090 schizophrenia skos:exactMatch MEDGEN:48574 semapv:UnspecifiedMatching MONDO:0005090 schizophrenia skos:exactMatch NCIT:C3362 Schizophrenia semapv:UnspecifiedMatching MONDO:0005090 schizophrenia skos:exactMatch OMIM:181500 schizophrenia semapv:UnspecifiedMatching MONDO:0005090 schizophrenia skos:exactMatch SCTID:58214004 semapv:UnspecifiedMatching MONDO:0005090 schizophrenia skos:exactMatch UMLS:C0036341 semapv:UnspecifiedMatching MONDO:0005090 schizophrenia skos:exactMatch icd11.foundation:1683919430 Schizophrenia semapv:UnspecifiedMatching MONDO:0005091 severe acute respiratory syndrome skos:exactMatch DOID:2945 severe acute respiratory syndrome semapv:UnspecifiedMatching MONDO:0005091 severe acute respiratory syndrome skos:exactMatch EFO:0000694 semapv:UnspecifiedMatching MONDO:0005091 severe acute respiratory syndrome skos:exactMatch MEDGEN:262817 semapv:UnspecifiedMatching MONDO:0005091 severe acute respiratory syndrome skos:exactMatch NCIT:C85064 Severe Acute Respiratory Syndrome semapv:UnspecifiedMatching MONDO:0005091 severe acute respiratory syndrome skos:exactMatch Orphanet:140896 Severe acute respiratory syndrome semapv:UnspecifiedMatching MONDO:0005091 severe acute respiratory syndrome skos:exactMatch SCTID:398447004 semapv:UnspecifiedMatching MONDO:0005091 severe acute respiratory syndrome skos:exactMatch UMLS:C1175175 semapv:UnspecifiedMatching MONDO:0005091 severe acute respiratory syndrome skos:exactMatch icd11.foundation:652944603 Severe acute respiratory syndrome semapv:UnspecifiedMatching MONDO:0005091 severe acute respiratory syndrome skos:exactMatch mesh:D045169 semapv:UnspecifiedMatching MONDO:0005092 signet ring cell carcinoma skos:exactMatch DOID:3493 signet ring cell adenocarcinoma semapv:UnspecifiedMatching MONDO:0005092 signet ring cell carcinoma skos:exactMatch EFO:0000698 semapv:UnspecifiedMatching MONDO:0005092 signet ring cell carcinoma skos:exactMatch MEDGEN:61663 semapv:UnspecifiedMatching MONDO:0005092 signet ring cell carcinoma skos:exactMatch NCIT:C3774 Signet Ring Cell Adenocarcinoma semapv:UnspecifiedMatching MONDO:0005092 signet ring cell carcinoma skos:exactMatch UMLS:C0206696 semapv:UnspecifiedMatching MONDO:0005092 signet ring cell carcinoma skos:exactMatch mesh:D018279 semapv:UnspecifiedMatching MONDO:0005093 skin disorder skos:exactMatch DOID:37 skin disease semapv:UnspecifiedMatching MONDO:0005093 skin disorder skos:exactMatch EFO:0000701 semapv:UnspecifiedMatching MONDO:0005093 skin disorder skos:exactMatch MEDGEN:20777 semapv:UnspecifiedMatching MONDO:0005093 skin disorder skos:exactMatch NCIT:C3371 Skin Disorder semapv:UnspecifiedMatching MONDO:0005093 skin disorder skos:exactMatch SCTID:95320005 semapv:UnspecifiedMatching MONDO:0005093 skin disorder skos:exactMatch UMLS:C0037274 semapv:UnspecifiedMatching MONDO:0005093 skin disorder skos:exactMatch mesh:D012871 semapv:UnspecifiedMatching MONDO:0005094 hemangiopericytoma skos:exactMatch DOID:264 hemangiopericytoma semapv:UnspecifiedMatching MONDO:0005094 hemangiopericytoma skos:exactMatch MEDGEN:5478 semapv:UnspecifiedMatching MONDO:0005094 hemangiopericytoma skos:exactMatch NCIT:C3087 Hemangiopericytoma semapv:UnspecifiedMatching MONDO:0005094 hemangiopericytoma skos:exactMatch SCTID:134335004 semapv:UnspecifiedMatching MONDO:0005094 hemangiopericytoma skos:exactMatch UMLS:C0018922 semapv:UnspecifiedMatching MONDO:0005094 hemangiopericytoma skos:exactMatch mesh:D006393 semapv:UnspecifiedMatching MONDO:0005095 spondyloarthropathy skos:exactMatch DOID:1123 spondyloarthropathy semapv:UnspecifiedMatching MONDO:0005095 spondyloarthropathy skos:exactMatch EFO:0000706 semapv:UnspecifiedMatching MONDO:0005095 spondyloarthropathy skos:exactMatch MEDGEN:181888 semapv:UnspecifiedMatching MONDO:0005095 spondyloarthropathy skos:exactMatch NCIT:C116778 Spondyloarthritis semapv:UnspecifiedMatching MONDO:0005095 spondyloarthropathy skos:exactMatch UMLS:C0949691 semapv:UnspecifiedMatching MONDO:0005096 squamous cell carcinoma skos:exactMatch DOID:1749 squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0005096 squamous cell carcinoma skos:exactMatch EFO:0000707 semapv:UnspecifiedMatching MONDO:0005096 squamous cell carcinoma skos:exactMatch MEDGEN:2874 semapv:UnspecifiedMatching MONDO:0005096 squamous cell carcinoma skos:exactMatch NCIT:C2929 Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0005096 squamous cell carcinoma skos:exactMatch SCTID:402815007 semapv:UnspecifiedMatching MONDO:0005096 squamous cell carcinoma skos:exactMatch UMLS:C0007137 semapv:UnspecifiedMatching MONDO:0005096 squamous cell carcinoma skos:exactMatch mesh:D002294 semapv:UnspecifiedMatching MONDO:0005097 squamous cell lung carcinoma skos:exactMatch DOID:3907 lung squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0005097 squamous cell lung carcinoma skos:exactMatch EFO:0000708 semapv:UnspecifiedMatching MONDO:0005097 squamous cell lung carcinoma skos:exactMatch MEDGEN:56202 semapv:UnspecifiedMatching MONDO:0005097 squamous cell lung carcinoma skos:exactMatch NCIT:C3493 Lung Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0005097 squamous cell lung carcinoma skos:exactMatch SCTID:254634000 semapv:UnspecifiedMatching MONDO:0005097 squamous cell lung carcinoma skos:exactMatch UMLS:C0149782 semapv:UnspecifiedMatching MONDO:0005098 stroke disorder skos:exactMatch DOID:0051061 stroke semapv:UnspecifiedMatching MONDO:0005098 stroke disorder skos:exactMatch EFO:0000712 semapv:UnspecifiedMatching MONDO:0005098 stroke disorder skos:exactMatch MEDGEN:52522 semapv:UnspecifiedMatching MONDO:0005098 stroke disorder skos:exactMatch NCIT:C3390 Stroke semapv:UnspecifiedMatching MONDO:0005098 stroke disorder skos:exactMatch SCTID:230690007 semapv:UnspecifiedMatching MONDO:0005098 stroke disorder skos:exactMatch UMLS:C0038454 semapv:UnspecifiedMatching MONDO:0005098 stroke disorder skos:exactMatch mesh:D020521 semapv:UnspecifiedMatching MONDO:0005099 subarachnoid hemorrhage skos:exactMatch EFO:0000713 semapv:UnspecifiedMatching MONDO:0005099 subarachnoid hemorrhage skos:exactMatch MEDGEN:11625 semapv:UnspecifiedMatching MONDO:0005099 subarachnoid hemorrhage skos:exactMatch SCTID:21454007 semapv:UnspecifiedMatching MONDO:0005099 subarachnoid hemorrhage skos:exactMatch UMLS:C0038525 semapv:UnspecifiedMatching MONDO:0005099 subarachnoid hemorrhage skos:exactMatch icd11.foundation:1363253283 Subarachnoid haemorrhage semapv:UnspecifiedMatching MONDO:0005099 subarachnoid hemorrhage skos:exactMatch mesh:D013345 semapv:UnspecifiedMatching MONDO:0005100 systemic sclerosis skos:exactMatch DOID:418 systemic scleroderma semapv:UnspecifiedMatching MONDO:0005100 systemic sclerosis skos:exactMatch EFO:0000717 semapv:UnspecifiedMatching MONDO:0005100 systemic sclerosis skos:exactMatch ICD10CM:M34 Systemic sclerosis [scleroderma] semapv:UnspecifiedMatching MONDO:0005100 systemic sclerosis skos:exactMatch ICD10WHO:M34 Systemic sclerosis semapv:UnspecifiedMatching MONDO:0005100 systemic sclerosis skos:exactMatch MEDGEN:19897 semapv:UnspecifiedMatching MONDO:0005100 systemic sclerosis skos:exactMatch NCIT:C72070 Systemic Scleroderma semapv:UnspecifiedMatching MONDO:0005100 systemic sclerosis skos:exactMatch Orphanet:90291 Systemic sclerosis semapv:UnspecifiedMatching MONDO:0005100 systemic sclerosis skos:exactMatch SCTID:89155008 semapv:UnspecifiedMatching MONDO:0005100 systemic sclerosis skos:exactMatch UMLS:C0036421 semapv:UnspecifiedMatching MONDO:0005100 systemic sclerosis skos:exactMatch icd11.foundation:1084365812 Systemic sclerosis semapv:UnspecifiedMatching MONDO:0005100 systemic sclerosis skos:exactMatch mesh:D012595 semapv:UnspecifiedMatching MONDO:0005101 ulcerative colitis skos:exactMatch DOID:8577 ulcerative colitis semapv:UnspecifiedMatching MONDO:0005101 ulcerative colitis skos:exactMatch EFO:0000729 semapv:UnspecifiedMatching MONDO:0005101 ulcerative colitis skos:exactMatch ICD10CM:K51 Ulcerative colitis semapv:UnspecifiedMatching MONDO:0005101 ulcerative colitis skos:exactMatch ICD10WHO:K51 Ulcerative colitis semapv:UnspecifiedMatching MONDO:0005101 ulcerative colitis skos:exactMatch MEDGEN:3532 semapv:UnspecifiedMatching MONDO:0005101 ulcerative colitis skos:exactMatch NCIT:C2952 Ulcerative Colitis semapv:UnspecifiedMatching MONDO:0005101 ulcerative colitis skos:exactMatch SCTID:64766004 semapv:UnspecifiedMatching MONDO:0005101 ulcerative colitis skos:exactMatch UMLS:C0009324 semapv:UnspecifiedMatching MONDO:0005101 ulcerative colitis skos:exactMatch icd11.foundation:784669405 Ulcerative colitis semapv:UnspecifiedMatching MONDO:0005101 ulcerative colitis skos:exactMatch mesh:D003093 semapv:UnspecifiedMatching MONDO:0005102 undifferentiated (embryonal) sarcoma skos:exactMatch EFO:0000730 semapv:UnspecifiedMatching MONDO:0005102 undifferentiated (embryonal) sarcoma skos:exactMatch MEDGEN:163512 semapv:UnspecifiedMatching MONDO:0005102 undifferentiated (embryonal) sarcoma skos:exactMatch NCIT:C27096 Liver Embryonal Sarcoma semapv:UnspecifiedMatching MONDO:0005102 undifferentiated (embryonal) sarcoma skos:exactMatch UMLS:C0855073 semapv:UnspecifiedMatching MONDO:0005103 well-differentiated liposarcoma skos:exactMatch EFO:0000736 semapv:UnspecifiedMatching MONDO:0005103 well-differentiated liposarcoma skos:exactMatch MEDGEN:237164 semapv:UnspecifiedMatching MONDO:0005103 well-differentiated liposarcoma skos:exactMatch Orphanet:99971 Well-differentiated liposarcoma semapv:UnspecifiedMatching MONDO:0005103 well-differentiated liposarcoma skos:exactMatch UMLS:C1370889 semapv:UnspecifiedMatching MONDO:0005104 sarcoma G1 skos:exactMatch MEDGEN:235577 semapv:UnspecifiedMatching MONDO:0005104 sarcoma G1 skos:exactMatch NCIT:C9024 Sarcoma G1 semapv:UnspecifiedMatching MONDO:0005104 sarcoma G1 skos:exactMatch UMLS:C1335913 semapv:UnspecifiedMatching MONDO:0005105 melanoma skos:exactMatch DOID:1909 melanoma semapv:UnspecifiedMatching MONDO:0005105 melanoma skos:exactMatch EFO:0000756 semapv:UnspecifiedMatching MONDO:0005105 melanoma skos:exactMatch MEDGEN:9944 semapv:UnspecifiedMatching MONDO:0005105 melanoma skos:exactMatch NCIT:C3224 Melanoma semapv:UnspecifiedMatching MONDO:0005105 melanoma skos:exactMatch SCTID:372244006 semapv:UnspecifiedMatching MONDO:0005105 melanoma skos:exactMatch UMLS:C0025202 semapv:UnspecifiedMatching MONDO:0005105 melanoma skos:exactMatch mesh:D008545 semapv:UnspecifiedMatching MONDO:0005106 lipoma skos:exactMatch DOID:3315 lipoma semapv:UnspecifiedMatching MONDO:0005106 lipoma skos:exactMatch EFO:0000759 semapv:UnspecifiedMatching MONDO:0005106 lipoma skos:exactMatch MEDGEN:44173 semapv:UnspecifiedMatching MONDO:0005106 lipoma skos:exactMatch NCIT:C3192 Lipoma semapv:UnspecifiedMatching MONDO:0005106 lipoma skos:exactMatch SCTID:93163002 semapv:UnspecifiedMatching MONDO:0005106 lipoma skos:exactMatch UMLS:C0023798 semapv:UnspecifiedMatching MONDO:0005106 lipoma skos:exactMatch icd11.foundation:1090000716 Lipoma semapv:UnspecifiedMatching MONDO:0005106 lipoma skos:exactMatch mesh:D008067 semapv:UnspecifiedMatching MONDO:0005108 viral infectious disease skos:exactMatch DOID:934 viral infectious disease semapv:UnspecifiedMatching MONDO:0005108 viral infectious disease skos:exactMatch EFO:0000763 semapv:UnspecifiedMatching MONDO:0005108 viral infectious disease skos:exactMatch NCIT:C3439 Viral Infection semapv:UnspecifiedMatching MONDO:0005108 viral infectious disease skos:exactMatch SCTID:34014006 semapv:UnspecifiedMatching MONDO:0005108 viral infectious disease skos:exactMatch mesh:D014777 semapv:UnspecifiedMatching MONDO:0005109 HIV infectious disease skos:exactMatch DOID:526 human immunodeficiency virus infectious disease semapv:UnspecifiedMatching MONDO:0005109 HIV infectious disease skos:exactMatch EFO:0000764 semapv:UnspecifiedMatching MONDO:0005109 HIV infectious disease skos:exactMatch ICD10CM:B20-B20 Human immunodeficiency virus [HIV] disease (B20) semapv:UnspecifiedMatching MONDO:0005109 HIV infectious disease skos:exactMatch MEDGEN:5583 semapv:UnspecifiedMatching MONDO:0005109 HIV infectious disease skos:exactMatch NCIT:C3108 HIV Infection semapv:UnspecifiedMatching MONDO:0005109 HIV infectious disease skos:exactMatch SCTID:86406008 semapv:UnspecifiedMatching MONDO:0005109 HIV infectious disease skos:exactMatch UMLS:C0019693 semapv:UnspecifiedMatching MONDO:0005109 HIV infectious disease skos:exactMatch mesh:D015658 semapv:UnspecifiedMatching MONDO:0005110 idiopathic cardiomyopathy skos:exactMatch EFO:0000767 semapv:UnspecifiedMatching MONDO:0005110 idiopathic cardiomyopathy skos:exactMatch MEDGEN:18634 semapv:UnspecifiedMatching MONDO:0005110 idiopathic cardiomyopathy skos:exactMatch NCIT:C53654 Idiopathic Cardiomyopathy semapv:UnspecifiedMatching MONDO:0005110 idiopathic cardiomyopathy skos:exactMatch UMLS:C0033141 semapv:UnspecifiedMatching MONDO:0005111 Epstein-Barr virus infection skos:exactMatch DOID:2938 Epstein-Barr virus infectious disease semapv:UnspecifiedMatching MONDO:0005111 Epstein-Barr virus infection skos:exactMatch EFO:0000769 semapv:UnspecifiedMatching MONDO:0005111 Epstein-Barr virus infection skos:exactMatch MEDGEN:57439 semapv:UnspecifiedMatching MONDO:0005111 Epstein-Barr virus infection skos:exactMatch NCIT:C38759 EBV Infection semapv:UnspecifiedMatching MONDO:0005111 Epstein-Barr virus infection skos:exactMatch UMLS:C0149678 semapv:UnspecifiedMatching MONDO:0005111 Epstein-Barr virus infection skos:exactMatch mesh:D020031 semapv:UnspecifiedMatching MONDO:0005112 malignant pleural mesothelioma skos:exactMatch DOID:7474 malignant pleural mesothelioma semapv:UnspecifiedMatching MONDO:0005112 malignant pleural mesothelioma skos:exactMatch EFO:0000770 semapv:UnspecifiedMatching MONDO:0005112 malignant pleural mesothelioma skos:exactMatch MEDGEN:208810 semapv:UnspecifiedMatching MONDO:0005112 malignant pleural mesothelioma skos:exactMatch NCIT:C7376 Pleural Malignant Mesothelioma semapv:UnspecifiedMatching MONDO:0005112 malignant pleural mesothelioma skos:exactMatch SCTID:254645002 semapv:UnspecifiedMatching MONDO:0005112 malignant pleural mesothelioma skos:exactMatch UMLS:C0812413 semapv:UnspecifiedMatching MONDO:0005113 bacterial infectious disease skos:exactMatch DOID:104 bacterial infectious disease semapv:UnspecifiedMatching MONDO:0005113 bacterial infectious disease skos:exactMatch EFO:0000771 semapv:UnspecifiedMatching MONDO:0005113 bacterial infectious disease skos:exactMatch MEDGEN:14012 semapv:UnspecifiedMatching MONDO:0005113 bacterial infectious disease skos:exactMatch NCIT:C2890 Bacterial Infection semapv:UnspecifiedMatching MONDO:0005113 bacterial infectious disease skos:exactMatch SCTID:87628006 semapv:UnspecifiedMatching MONDO:0005113 bacterial infectious disease skos:exactMatch UMLS:C0004623 semapv:UnspecifiedMatching MONDO:0005113 bacterial infectious disease skos:exactMatch mesh:D001424 semapv:UnspecifiedMatching MONDO:0005114 pneumococcal infection skos:exactMatch EFO:0000772 semapv:UnspecifiedMatching MONDO:0005114 pneumococcal infection skos:exactMatch MEDGEN:18528 semapv:UnspecifiedMatching MONDO:0005114 pneumococcal infection skos:exactMatch SCTID:16814004 semapv:UnspecifiedMatching MONDO:0005114 pneumococcal infection skos:exactMatch UMLS:C0032269 semapv:UnspecifiedMatching MONDO:0005114 pneumococcal infection skos:exactMatch mesh:D011008 semapv:UnspecifiedMatching MONDO:0005115 temporal lobe epilepsy skos:exactMatch DOID:3328 temporal lobe epilepsy semapv:UnspecifiedMatching MONDO:0005115 temporal lobe epilepsy skos:exactMatch EFO:0000773 semapv:UnspecifiedMatching MONDO:0005115 temporal lobe epilepsy skos:exactMatch MEDGEN:4990 semapv:UnspecifiedMatching MONDO:0005115 temporal lobe epilepsy skos:exactMatch NCIT:C177244 Temporal Lobe Epilepsy semapv:UnspecifiedMatching MONDO:0005115 temporal lobe epilepsy skos:exactMatch OMIMPS:600512 Epilepsy, familial temporal lobe semapv:UnspecifiedMatching MONDO:0005115 temporal lobe epilepsy skos:exactMatch Orphanet:98819 Familial temporal lobe epilepsy semapv:UnspecifiedMatching MONDO:0005115 temporal lobe epilepsy skos:exactMatch SCTID:783739005 semapv:UnspecifiedMatching MONDO:0005115 temporal lobe epilepsy skos:exactMatch UMLS:C0014556 semapv:UnspecifiedMatching MONDO:0005115 temporal lobe epilepsy skos:exactMatch mesh:D004833 semapv:UnspecifiedMatching MONDO:0005116 Whipple disease skos:exactMatch DOID:8476 Whipple disease semapv:UnspecifiedMatching MONDO:0005116 Whipple disease skos:exactMatch EFO:0000775 semapv:UnspecifiedMatching MONDO:0005116 Whipple disease skos:exactMatch ICD10CM:K90.81 Whipple's disease semapv:UnspecifiedMatching MONDO:0005116 Whipple disease skos:exactMatch MEDGEN:7347 semapv:UnspecifiedMatching MONDO:0005116 Whipple disease skos:exactMatch NCIT:C85228 Whipple Disease semapv:UnspecifiedMatching MONDO:0005116 Whipple disease skos:exactMatch Orphanet:3452 Whipple disease semapv:UnspecifiedMatching MONDO:0005116 Whipple disease skos:exactMatch SCTID:41545003 semapv:UnspecifiedMatching MONDO:0005116 Whipple disease skos:exactMatch UMLS:C0023788 semapv:UnspecifiedMatching MONDO:0005116 Whipple disease skos:exactMatch icd11.foundation:1131038233 Whipple disease semapv:UnspecifiedMatching MONDO:0005116 Whipple disease skos:exactMatch mesh:D008061 semapv:UnspecifiedMatching MONDO:0005117 Aeromonas hydrophila infectious disease skos:exactMatch EFO:0000776 semapv:UnspecifiedMatching MONDO:0005118 human granulocytic anaplasmosis skos:exactMatch DOID:0050025 human granulocytic anaplasmosis semapv:UnspecifiedMatching MONDO:0005118 human granulocytic anaplasmosis skos:exactMatch EFO:0000777 semapv:UnspecifiedMatching MONDO:0005118 human granulocytic anaplasmosis skos:exactMatch ICD10CM:A79.82 Anaplasmosis [A. phagocytophilum] semapv:UnspecifiedMatching MONDO:0005118 human granulocytic anaplasmosis skos:exactMatch MEDGEN:96911 semapv:UnspecifiedMatching MONDO:0005118 human granulocytic anaplasmosis skos:exactMatch NCIT:C128425 Anaplasmosis semapv:UnspecifiedMatching MONDO:0005118 human granulocytic anaplasmosis skos:exactMatch SCTID:13906002 semapv:UnspecifiedMatching MONDO:0005118 human granulocytic anaplasmosis skos:exactMatch SCTID:85708001 semapv:UnspecifiedMatching MONDO:0005118 human granulocytic anaplasmosis skos:exactMatch UMLS:C0483368 semapv:UnspecifiedMatching MONDO:0005118 human granulocytic anaplasmosis skos:exactMatch mesh:D000712 semapv:UnspecifiedMatching MONDO:0005119 anthrax infection skos:exactMatch DOID:7427 anthrax disease semapv:UnspecifiedMatching MONDO:0005119 anthrax infection skos:exactMatch EFO:0000778 semapv:UnspecifiedMatching MONDO:0005119 anthrax infection skos:exactMatch ICD10CM:A22 Anthrax semapv:UnspecifiedMatching MONDO:0005119 anthrax infection skos:exactMatch MEDGEN:8110 semapv:UnspecifiedMatching MONDO:0005119 anthrax infection skos:exactMatch NCIT:C84565 Anthrax semapv:UnspecifiedMatching MONDO:0005119 anthrax infection skos:exactMatch SCTID:409498004 semapv:UnspecifiedMatching MONDO:0005119 anthrax infection skos:exactMatch UMLS:C0003175 semapv:UnspecifiedMatching MONDO:0005119 anthrax infection skos:exactMatch mesh:D000881 semapv:UnspecifiedMatching MONDO:0005120 Drosophila C virus infection skos:exactMatch EFO:0000779 semapv:UnspecifiedMatching MONDO:0005121 Enterococcus faecalis infection skos:exactMatch EFO:0000780 semapv:UnspecifiedMatching MONDO:0005121 Enterococcus faecalis infection skos:exactMatch MEDGEN:1843390 semapv:UnspecifiedMatching MONDO:0005121 Enterococcus faecalis infection skos:exactMatch UMLS:C0948752 semapv:UnspecifiedMatching MONDO:0005122 Pectobacterium carotovorum infection skos:exactMatch EFO:0000781 semapv:UnspecifiedMatching MONDO:0005124 leprosy skos:exactMatch DOID:1024 leprosy semapv:UnspecifiedMatching MONDO:0005124 leprosy skos:exactMatch EFO:0001054 semapv:UnspecifiedMatching MONDO:0005124 leprosy skos:exactMatch ICD10CM:A30 Leprosy [Hansen's disease] semapv:UnspecifiedMatching MONDO:0005124 leprosy skos:exactMatch MEDGEN:6049 semapv:UnspecifiedMatching MONDO:0005124 leprosy skos:exactMatch NCIT:C84824 Leprosy semapv:UnspecifiedMatching MONDO:0005124 leprosy skos:exactMatch Orphanet:548 Leprosy semapv:UnspecifiedMatching MONDO:0005124 leprosy skos:exactMatch SCTID:81004002 semapv:UnspecifiedMatching MONDO:0005124 leprosy skos:exactMatch UMLS:C0023343 semapv:UnspecifiedMatching MONDO:0005124 leprosy skos:exactMatch icd11.foundation:149072669 Leprosy semapv:UnspecifiedMatching MONDO:0005124 leprosy skos:exactMatch mesh:D007918 semapv:UnspecifiedMatching MONDO:0005125 borderline leprosy skos:exactMatch DOID:1023 borderline leprosy semapv:UnspecifiedMatching MONDO:0005125 borderline leprosy skos:exactMatch EFO:0001055 semapv:UnspecifiedMatching MONDO:0005125 borderline leprosy skos:exactMatch ICD10CM:A30.3 Borderline leprosy semapv:UnspecifiedMatching MONDO:0005125 borderline leprosy skos:exactMatch MEDGEN:7305 semapv:UnspecifiedMatching MONDO:0005125 borderline leprosy skos:exactMatch SCTID:400154003 semapv:UnspecifiedMatching MONDO:0005125 borderline leprosy skos:exactMatch UMLS:C0023346 semapv:UnspecifiedMatching MONDO:0005125 borderline leprosy skos:exactMatch icd11.foundation:56771163 Borderline leprosy semapv:UnspecifiedMatching MONDO:0005125 borderline leprosy skos:exactMatch mesh:D015439 semapv:UnspecifiedMatching MONDO:0005126 tuberculoid leprosy skos:exactMatch DOID:1025 tuberculoid leprosy semapv:UnspecifiedMatching MONDO:0005126 tuberculoid leprosy skos:exactMatch EFO:0001056 semapv:UnspecifiedMatching MONDO:0005126 tuberculoid leprosy skos:exactMatch ICD10CM:A30.1 Tuberculoid leprosy semapv:UnspecifiedMatching MONDO:0005126 tuberculoid leprosy skos:exactMatch MEDGEN:6050 semapv:UnspecifiedMatching MONDO:0005126 tuberculoid leprosy skos:exactMatch SCTID:70143003 semapv:UnspecifiedMatching MONDO:0005126 tuberculoid leprosy skos:exactMatch UMLS:C0023351 semapv:UnspecifiedMatching MONDO:0005126 tuberculoid leprosy skos:exactMatch icd11.foundation:310697776 Tuberculoid leprosy semapv:UnspecifiedMatching MONDO:0005126 tuberculoid leprosy skos:exactMatch mesh:D015441 semapv:UnspecifiedMatching MONDO:0005127 lepromatous leprosy skos:exactMatch DOID:10887 lepromatous leprosy semapv:UnspecifiedMatching MONDO:0005127 lepromatous leprosy skos:exactMatch EFO:0001057 semapv:UnspecifiedMatching MONDO:0005127 lepromatous leprosy skos:exactMatch ICD10CM:A30.5 Lepromatous leprosy semapv:UnspecifiedMatching MONDO:0005127 lepromatous leprosy skos:exactMatch MEDGEN:7306 semapv:UnspecifiedMatching MONDO:0005127 lepromatous leprosy skos:exactMatch SCTID:21560005 semapv:UnspecifiedMatching MONDO:0005127 lepromatous leprosy skos:exactMatch UMLS:C0023348 semapv:UnspecifiedMatching MONDO:0005127 lepromatous leprosy skos:exactMatch icd11.foundation:365370459 Lepromatous leprosy semapv:UnspecifiedMatching MONDO:0005127 lepromatous leprosy skos:exactMatch mesh:D015440 semapv:UnspecifiedMatching MONDO:0005128 obsolete sensory system disease skos:exactMatch DOID:0050155 sensory system disease semapv:UnspecifiedMatching MONDO:0005129 cataract skos:exactMatch DOID:83 cataract semapv:UnspecifiedMatching MONDO:0005129 cataract skos:exactMatch MEDGEN:39462 semapv:UnspecifiedMatching MONDO:0005129 cataract skos:exactMatch NCIT:C26713 Cataract semapv:UnspecifiedMatching MONDO:0005129 cataract skos:exactMatch OMIMPS:116200 Cataract semapv:UnspecifiedMatching MONDO:0005129 cataract skos:exactMatch SCTID:193570009 semapv:UnspecifiedMatching MONDO:0005129 cataract skos:exactMatch UMLS:C0086543 semapv:UnspecifiedMatching MONDO:0005129 cataract skos:exactMatch icd11.foundation:109841337 Cataract semapv:UnspecifiedMatching MONDO:0005129 cataract skos:exactMatch mesh:D002386 semapv:UnspecifiedMatching MONDO:0005130 celiac disease skos:exactMatch DOID:10608 celiac disease semapv:UnspecifiedMatching MONDO:0005130 celiac disease skos:exactMatch EFO:0001060 semapv:UnspecifiedMatching MONDO:0005130 celiac disease skos:exactMatch ICD10CM:K90.0 Celiac disease semapv:UnspecifiedMatching MONDO:0005130 celiac disease skos:exactMatch MEDGEN:3291 semapv:UnspecifiedMatching MONDO:0005130 celiac disease skos:exactMatch NCIT:C26714 Celiac Disease semapv:UnspecifiedMatching MONDO:0005130 celiac disease skos:exactMatch OMIMPS:212750 Celiac disease semapv:UnspecifiedMatching MONDO:0005130 celiac disease skos:exactMatch SCTID:396331005 semapv:UnspecifiedMatching MONDO:0005130 celiac disease skos:exactMatch UMLS:C0007570 semapv:UnspecifiedMatching MONDO:0005130 celiac disease skos:exactMatch icd11.foundation:2005943638 Coeliac disease semapv:UnspecifiedMatching MONDO:0005130 celiac disease skos:exactMatch mesh:D002446 semapv:UnspecifiedMatching MONDO:0005131 cervical carcinoma skos:exactMatch DOID:2893 cervix carcinoma semapv:UnspecifiedMatching MONDO:0005131 cervical carcinoma skos:exactMatch EFO:0001061 semapv:UnspecifiedMatching MONDO:0005131 cervical carcinoma skos:exactMatch MEDGEN:86222 semapv:UnspecifiedMatching MONDO:0005131 cervical carcinoma skos:exactMatch NCIT:C9039 Cervical Carcinoma semapv:UnspecifiedMatching MONDO:0005131 cervical carcinoma skos:exactMatch SCTID:285432005 semapv:UnspecifiedMatching MONDO:0005131 cervical carcinoma skos:exactMatch UMLS:C0302592 semapv:UnspecifiedMatching MONDO:0005131 cervical carcinoma skos:exactMatch icd11.foundation:1743710977 Cervical carcinoma semapv:UnspecifiedMatching MONDO:0005132 cytomegalovirus infection skos:exactMatch EFO:0001062 semapv:UnspecifiedMatching MONDO:0005132 cytomegalovirus infection skos:exactMatch MEDGEN:8239 semapv:UnspecifiedMatching MONDO:0005132 cytomegalovirus infection skos:exactMatch NCIT:C53649 Cytomegaloviral Infection semapv:UnspecifiedMatching MONDO:0005132 cytomegalovirus infection skos:exactMatch SCTID:28944009 semapv:UnspecifiedMatching MONDO:0005132 cytomegalovirus infection skos:exactMatch UMLS:C0010823 semapv:UnspecifiedMatching MONDO:0005132 cytomegalovirus infection skos:exactMatch mesh:D003586 semapv:UnspecifiedMatching MONDO:0005133 endometriosis skos:exactMatch DOID:289 endometriosis semapv:UnspecifiedMatching MONDO:0005133 endometriosis skos:exactMatch EFO:0001065 semapv:UnspecifiedMatching MONDO:0005133 endometriosis skos:exactMatch ICD10CM:N80 Endometriosis semapv:UnspecifiedMatching MONDO:0005133 endometriosis skos:exactMatch ICD10WHO:N80 Endometriosis semapv:UnspecifiedMatching MONDO:0005133 endometriosis skos:exactMatch MEDGEN:8620 semapv:UnspecifiedMatching MONDO:0005133 endometriosis skos:exactMatch NCIT:C3014 Endometriosis semapv:UnspecifiedMatching MONDO:0005133 endometriosis skos:exactMatch SCTID:129103003 semapv:UnspecifiedMatching MONDO:0005133 endometriosis skos:exactMatch UMLS:C0014175 semapv:UnspecifiedMatching MONDO:0005133 endometriosis skos:exactMatch icd11.foundation:1838213761 Endometriosis semapv:UnspecifiedMatching MONDO:0005133 endometriosis skos:exactMatch mesh:D004715 semapv:UnspecifiedMatching MONDO:0005134 experimental autoimmune encephalomyelitis skos:exactMatch EFO:0001066 semapv:UnspecifiedMatching MONDO:0005134 experimental autoimmune encephalomyelitis skos:exactMatch mesh:D004681 semapv:UnspecifiedMatching MONDO:0005135 parasitic infectious disease skos:exactMatch DOID:1398 parasitic infectious disease semapv:UnspecifiedMatching MONDO:0005135 parasitic infectious disease skos:exactMatch EFO:0001067 semapv:UnspecifiedMatching MONDO:0005135 parasitic infectious disease skos:exactMatch MEDGEN:45325 semapv:UnspecifiedMatching MONDO:0005135 parasitic infectious disease skos:exactMatch NCIT:C27864 Parasitic Infection semapv:UnspecifiedMatching MONDO:0005135 parasitic infectious disease skos:exactMatch SCTID:17322007 semapv:UnspecifiedMatching MONDO:0005135 parasitic infectious disease skos:exactMatch UMLS:C0030499 semapv:UnspecifiedMatching MONDO:0005135 parasitic infectious disease skos:exactMatch mesh:D010272 semapv:UnspecifiedMatching MONDO:0005136 malaria skos:exactMatch DOID:12365 malaria semapv:UnspecifiedMatching MONDO:0005136 malaria skos:exactMatch EFO:0001068 semapv:UnspecifiedMatching MONDO:0005136 malaria skos:exactMatch ICD10CM:B53 Other specified malaria semapv:UnspecifiedMatching MONDO:0005136 malaria skos:exactMatch MEDGEN:7443 semapv:UnspecifiedMatching MONDO:0005136 malaria skos:exactMatch NCIT:C34797 Malaria semapv:UnspecifiedMatching MONDO:0005136 malaria skos:exactMatch Orphanet:673 Malaria semapv:UnspecifiedMatching MONDO:0005136 malaria skos:exactMatch SCTID:61462000 semapv:UnspecifiedMatching MONDO:0005136 malaria skos:exactMatch UMLS:C0024530 semapv:UnspecifiedMatching MONDO:0005136 malaria skos:exactMatch icd11.foundation:1439886552 Malaria semapv:UnspecifiedMatching MONDO:0005136 malaria skos:exactMatch mesh:D008288 semapv:UnspecifiedMatching MONDO:0005137 nutritional disorder skos:exactMatch DOID:374 nutrition disease semapv:UnspecifiedMatching MONDO:0005137 nutritional disorder skos:exactMatch EFO:0001069 semapv:UnspecifiedMatching MONDO:0005137 nutritional disorder skos:exactMatch MEDGEN:811347 semapv:UnspecifiedMatching MONDO:0005137 nutritional disorder skos:exactMatch NCIT:C26836 Nutritional Disorder semapv:UnspecifiedMatching MONDO:0005137 nutritional disorder skos:exactMatch SCTID:2492009 semapv:UnspecifiedMatching MONDO:0005137 nutritional disorder skos:exactMatch UMLS:C3714509 semapv:UnspecifiedMatching MONDO:0005137 nutritional disorder skos:exactMatch mesh:D009748 semapv:UnspecifiedMatching MONDO:0005138 lung carcinoma skos:exactMatch DOID:3905 lung carcinoma semapv:UnspecifiedMatching MONDO:0005138 lung carcinoma skos:exactMatch EFO:0001071 semapv:UnspecifiedMatching MONDO:0005138 lung carcinoma skos:exactMatch MEDGEN:195765 semapv:UnspecifiedMatching MONDO:0005138 lung carcinoma skos:exactMatch NCIT:C4878 Lung Carcinoma semapv:UnspecifiedMatching MONDO:0005138 lung carcinoma skos:exactMatch UMLS:C0684249 semapv:UnspecifiedMatching MONDO:0005138 lung carcinoma skos:exactMatch icd11.foundation:947165291 Lung carcinoma semapv:UnspecifiedMatching MONDO:0005139 morbid obesity skos:exactMatch DOID:11981 morbid obesity semapv:UnspecifiedMatching MONDO:0005139 morbid obesity skos:exactMatch EFO:0001074 semapv:UnspecifiedMatching MONDO:0005139 morbid obesity skos:exactMatch MEDGEN:18128 semapv:UnspecifiedMatching MONDO:0005139 morbid obesity skos:exactMatch SCTID:83911000119104 semapv:UnspecifiedMatching MONDO:0005139 morbid obesity skos:exactMatch UMLS:C0028756 semapv:UnspecifiedMatching MONDO:0005139 morbid obesity skos:exactMatch mesh:D009767 semapv:UnspecifiedMatching MONDO:0005140 ovarian carcinoma skos:exactMatch DOID:4001 ovarian carcinoma semapv:UnspecifiedMatching MONDO:0005140 ovarian carcinoma skos:exactMatch EFO:0001075 semapv:UnspecifiedMatching MONDO:0005140 ovarian carcinoma skos:exactMatch MEDGEN:1648335 semapv:UnspecifiedMatching MONDO:0005140 ovarian carcinoma skos:exactMatch NCIT:C4908 Ovarian Carcinoma semapv:UnspecifiedMatching MONDO:0005140 ovarian carcinoma skos:exactMatch UMLS:C4721610 semapv:UnspecifiedMatching MONDO:0005141 Pseudomonas infection skos:exactMatch EFO:0001076 semapv:UnspecifiedMatching MONDO:0005141 Pseudomonas infection skos:exactMatch MEDGEN:10993 semapv:UnspecifiedMatching MONDO:0005141 Pseudomonas infection skos:exactMatch SCTID:63398001 semapv:UnspecifiedMatching MONDO:0005141 Pseudomonas infection skos:exactMatch UMLS:C0033817 semapv:UnspecifiedMatching MONDO:0005141 Pseudomonas infection skos:exactMatch mesh:D011552 semapv:UnspecifiedMatching MONDO:0005143 Pseudomonas aeruginosa PA14 infection skos:exactMatch EFO:0001078 semapv:UnspecifiedMatching MONDO:0005144 familial amyotrophic lateral sclerosis skos:exactMatch EFO:0001356 semapv:UnspecifiedMatching MONDO:0005144 familial amyotrophic lateral sclerosis skos:exactMatch MEDGEN:1642547 semapv:UnspecifiedMatching MONDO:0005144 familial amyotrophic lateral sclerosis skos:exactMatch OMIMPS:105400 Amyotrophic lateral sclerosis semapv:UnspecifiedMatching MONDO:0005144 familial amyotrophic lateral sclerosis skos:exactMatch UMLS:C4551993 semapv:UnspecifiedMatching MONDO:0005145 sporadic amyotrophic lateral sclerosis skos:exactMatch DOID:0080917 sporadic amyotrophic lateral sclerosis semapv:UnspecifiedMatching MONDO:0005145 sporadic amyotrophic lateral sclerosis skos:exactMatch EFO:0001357 semapv:UnspecifiedMatching MONDO:0005145 sporadic amyotrophic lateral sclerosis skos:exactMatch MEDGEN:400171 semapv:UnspecifiedMatching MONDO:0005145 sporadic amyotrophic lateral sclerosis skos:exactMatch UMLS:C1862941 semapv:UnspecifiedMatching MONDO:0005146 post-traumatic stress disorder skos:exactMatch DOID:2055 post-traumatic stress disorder semapv:UnspecifiedMatching MONDO:0005146 post-traumatic stress disorder skos:exactMatch EFO:0001358 semapv:UnspecifiedMatching MONDO:0005146 post-traumatic stress disorder skos:exactMatch ICD10CM:F43.1 Post-traumatic stress disorder (PTSD) semapv:UnspecifiedMatching MONDO:0005146 post-traumatic stress disorder skos:exactMatch MEDGEN:21345 semapv:UnspecifiedMatching MONDO:0005146 post-traumatic stress disorder skos:exactMatch NCIT:C3389 Post-Traumatic Stress Disorder semapv:UnspecifiedMatching MONDO:0005146 post-traumatic stress disorder skos:exactMatch SCTID:47505003 semapv:UnspecifiedMatching MONDO:0005146 post-traumatic stress disorder skos:exactMatch UMLS:C0038436 semapv:UnspecifiedMatching MONDO:0005146 post-traumatic stress disorder skos:exactMatch mesh:D013313 semapv:UnspecifiedMatching MONDO:0005147 type 1 diabetes mellitus skos:exactMatch DOID:9744 type 1 diabetes mellitus semapv:UnspecifiedMatching MONDO:0005147 type 1 diabetes mellitus skos:exactMatch ICD10CM:E10 Type 1 diabetes mellitus semapv:UnspecifiedMatching MONDO:0005147 type 1 diabetes mellitus skos:exactMatch ICD10WHO:E10 Type 1 diabetes mellitus semapv:UnspecifiedMatching MONDO:0005147 type 1 diabetes mellitus skos:exactMatch MEDGEN:41522 semapv:UnspecifiedMatching MONDO:0005147 type 1 diabetes mellitus skos:exactMatch NCIT:C2986 Type 1 Diabetes Mellitus semapv:UnspecifiedMatching MONDO:0005147 type 1 diabetes mellitus skos:exactMatch OMIM:222100 type 1 diabetes mellitus semapv:UnspecifiedMatching MONDO:0005147 type 1 diabetes mellitus skos:exactMatch SCTID:46635009 semapv:UnspecifiedMatching MONDO:0005147 type 1 diabetes mellitus skos:exactMatch UMLS:C0011854 semapv:UnspecifiedMatching MONDO:0005147 type 1 diabetes mellitus skos:exactMatch icd11.foundation:1651053999 Type 1 diabetes mellitus semapv:UnspecifiedMatching MONDO:0005147 type 1 diabetes mellitus skos:exactMatch mesh:D003922 semapv:UnspecifiedMatching MONDO:0005148 type 2 diabetes mellitus skos:exactMatch DOID:9352 type 2 diabetes mellitus semapv:UnspecifiedMatching MONDO:0005148 type 2 diabetes mellitus skos:exactMatch ICD10CM:E11 Type 2 diabetes mellitus semapv:UnspecifiedMatching MONDO:0005148 type 2 diabetes mellitus skos:exactMatch ICD10WHO:E11 Type 2 diabetes mellitus semapv:UnspecifiedMatching MONDO:0005148 type 2 diabetes mellitus skos:exactMatch MEDGEN:41523 semapv:UnspecifiedMatching MONDO:0005148 type 2 diabetes mellitus skos:exactMatch NCIT:C26747 Type 2 Diabetes Mellitus semapv:UnspecifiedMatching MONDO:0005148 type 2 diabetes mellitus skos:exactMatch OMIM:125853 type 2 diabetes mellitus semapv:UnspecifiedMatching MONDO:0005148 type 2 diabetes mellitus skos:exactMatch SCTID:44054006 semapv:UnspecifiedMatching MONDO:0005148 type 2 diabetes mellitus skos:exactMatch UMLS:C0011860 semapv:UnspecifiedMatching MONDO:0005148 type 2 diabetes mellitus skos:exactMatch icd11.foundation:119724091 Type 2 diabetes mellitus semapv:UnspecifiedMatching MONDO:0005148 type 2 diabetes mellitus skos:exactMatch mesh:D003924 semapv:UnspecifiedMatching MONDO:0005149 pulmonary hypertension skos:exactMatch DOID:6432 pulmonary hypertension semapv:UnspecifiedMatching MONDO:0005149 pulmonary hypertension skos:exactMatch MEDGEN:9376 semapv:UnspecifiedMatching MONDO:0005149 pulmonary hypertension skos:exactMatch SCTID:70995007 semapv:UnspecifiedMatching MONDO:0005149 pulmonary hypertension skos:exactMatch UMLS:C0020542 semapv:UnspecifiedMatching MONDO:0005149 pulmonary hypertension skos:exactMatch icd11.foundation:1496633964 Pulmonary hypertension semapv:UnspecifiedMatching MONDO:0005149 pulmonary hypertension skos:exactMatch mesh:D006976 semapv:UnspecifiedMatching MONDO:0005150 age-related macular degeneration skos:exactMatch DOID:10871 age related macular degeneration semapv:UnspecifiedMatching MONDO:0005150 age-related macular degeneration skos:exactMatch EFO:0001365 semapv:UnspecifiedMatching MONDO:0005150 age-related macular degeneration skos:exactMatch MEDGEN:116576 semapv:UnspecifiedMatching MONDO:0005150 age-related macular degeneration skos:exactMatch NCIT:C84391 Age-Related Macular Degeneration semapv:UnspecifiedMatching MONDO:0005150 age-related macular degeneration skos:exactMatch OMIMPS:603075 Macular degeneration, age-related semapv:UnspecifiedMatching MONDO:0005150 age-related macular degeneration skos:exactMatch SCTID:267718000 semapv:UnspecifiedMatching MONDO:0005150 age-related macular degeneration skos:exactMatch UMLS:C0242383 semapv:UnspecifiedMatching MONDO:0005150 age-related macular degeneration skos:exactMatch icd11.foundation:1514301548 Age-related macular degeneration semapv:UnspecifiedMatching MONDO:0005151 endocrine system disorder skos:exactMatch DOID:28 endocrine system disease semapv:UnspecifiedMatching MONDO:0005151 endocrine system disorder skos:exactMatch EFO:0001379 semapv:UnspecifiedMatching MONDO:0005151 endocrine system disorder skos:exactMatch MEDGEN:4043 semapv:UnspecifiedMatching MONDO:0005151 endocrine system disorder skos:exactMatch NCIT:C3009 Endocrine Disorder semapv:UnspecifiedMatching MONDO:0005151 endocrine system disorder skos:exactMatch SCTID:362969004 semapv:UnspecifiedMatching MONDO:0005151 endocrine system disorder skos:exactMatch UMLS:C0014130 semapv:UnspecifiedMatching MONDO:0005151 endocrine system disorder skos:exactMatch mesh:D004700 semapv:UnspecifiedMatching MONDO:0005152 hypopituitarism skos:exactMatch DOID:9406 hypopituitarism semapv:UnspecifiedMatching MONDO:0005152 hypopituitarism skos:exactMatch EFO:0001380 semapv:UnspecifiedMatching MONDO:0005152 hypopituitarism skos:exactMatch ICD10CM:E23.0 Hypopituitarism semapv:UnspecifiedMatching MONDO:0005152 hypopituitarism skos:exactMatch MEDGEN:9386 semapv:UnspecifiedMatching MONDO:0005152 hypopituitarism skos:exactMatch NCIT:C62591 Hypopituitarism semapv:UnspecifiedMatching MONDO:0005152 hypopituitarism skos:exactMatch SCTID:74728003 semapv:UnspecifiedMatching MONDO:0005152 hypopituitarism skos:exactMatch UMLS:C0020635 semapv:UnspecifiedMatching MONDO:0005152 hypopituitarism skos:exactMatch icd11.foundation:768216194 Hypopituitarism semapv:UnspecifiedMatching MONDO:0005152 hypopituitarism skos:exactMatch mesh:D007018 semapv:UnspecifiedMatching MONDO:0005153 cervical adenocarcinoma skos:exactMatch DOID:3702 cervical adenocarcinoma semapv:UnspecifiedMatching MONDO:0005153 cervical adenocarcinoma skos:exactMatch EFO:0001416 semapv:UnspecifiedMatching MONDO:0005153 cervical adenocarcinoma skos:exactMatch MEDGEN:79024 semapv:UnspecifiedMatching MONDO:0005153 cervical adenocarcinoma skos:exactMatch NCIT:C4029 Cervical Adenocarcinoma semapv:UnspecifiedMatching MONDO:0005153 cervical adenocarcinoma skos:exactMatch Orphanet:213772 Adenocarcinoma of the cervix uteri semapv:UnspecifiedMatching MONDO:0005153 cervical adenocarcinoma skos:exactMatch SCTID:254887002 semapv:UnspecifiedMatching MONDO:0005153 cervical adenocarcinoma skos:exactMatch UMLS:C0279672 semapv:UnspecifiedMatching MONDO:0005153 cervical adenocarcinoma skos:exactMatch icd11.foundation:261293318 Adenocarcinoma of cervix uteri semapv:UnspecifiedMatching MONDO:0005154 liver disorder skos:exactMatch DOID:409 liver disease semapv:UnspecifiedMatching MONDO:0005154 liver disorder skos:exactMatch EFO:0001421 semapv:UnspecifiedMatching MONDO:0005154 liver disorder skos:exactMatch ICD10CM:K70-K77 Diseases of liver (K70-K77) semapv:UnspecifiedMatching MONDO:0005154 liver disorder skos:exactMatch MEDGEN:893061 semapv:UnspecifiedMatching MONDO:0005154 liver disorder skos:exactMatch NCIT:C3196 Liver and Intrahepatic Bile Duct Disorder semapv:UnspecifiedMatching MONDO:0005154 liver disorder skos:exactMatch SCTID:235856003 semapv:UnspecifiedMatching MONDO:0005154 liver disorder skos:exactMatch UMLS:C4021780 semapv:UnspecifiedMatching MONDO:0005154 liver disorder skos:exactMatch icd11.foundation:1784240230 Diseases of liver semapv:UnspecifiedMatching MONDO:0005154 liver disorder skos:exactMatch mesh:D008107 semapv:UnspecifiedMatching MONDO:0005155 cirrhosis of liver skos:exactMatch DOID:5082 liver cirrhosis semapv:UnspecifiedMatching MONDO:0005155 cirrhosis of liver skos:exactMatch EFO:0001422 semapv:UnspecifiedMatching MONDO:0005155 cirrhosis of liver skos:exactMatch MEDGEN:7368 semapv:UnspecifiedMatching MONDO:0005155 cirrhosis of liver skos:exactMatch NCIT:C2951 Cirrhosis semapv:UnspecifiedMatching MONDO:0005155 cirrhosis of liver skos:exactMatch SCTID:19943007 semapv:UnspecifiedMatching MONDO:0005155 cirrhosis of liver skos:exactMatch UMLS:C0023890 semapv:UnspecifiedMatching MONDO:0005155 cirrhosis of liver skos:exactMatch mesh:D008103 semapv:UnspecifiedMatching MONDO:0005156 encephalomyelitis skos:exactMatch DOID:640 encephalomyelitis semapv:UnspecifiedMatching MONDO:0005156 encephalomyelitis skos:exactMatch EFO:0001423 semapv:UnspecifiedMatching MONDO:0005156 encephalomyelitis skos:exactMatch MEDGEN:8603 semapv:UnspecifiedMatching MONDO:0005156 encephalomyelitis skos:exactMatch NCIT:C34580 Encephalomyelitis semapv:UnspecifiedMatching MONDO:0005156 encephalomyelitis skos:exactMatch SCTID:62950007 semapv:UnspecifiedMatching MONDO:0005156 encephalomyelitis skos:exactMatch UMLS:C0014070 semapv:UnspecifiedMatching MONDO:0005156 encephalomyelitis skos:exactMatch mesh:D004679 semapv:UnspecifiedMatching MONDO:0005157 lymphoid neoplasm skos:exactMatch EFO:0001642 semapv:UnspecifiedMatching MONDO:0005157 lymphoid neoplasm skos:exactMatch MEDGEN:108626 semapv:UnspecifiedMatching MONDO:0005157 lymphoid neoplasm skos:exactMatch NCIT:C7065 Lymphocytic Neoplasm semapv:UnspecifiedMatching MONDO:0005157 lymphoid neoplasm skos:exactMatch UMLS:C0598798 semapv:UnspecifiedMatching MONDO:0005159 prostate carcinoma skos:exactMatch DOID:10286 prostate carcinoma semapv:UnspecifiedMatching MONDO:0005159 prostate carcinoma skos:exactMatch EFO:0001663 semapv:UnspecifiedMatching MONDO:0005159 prostate carcinoma skos:exactMatch MEDGEN:108657 semapv:UnspecifiedMatching MONDO:0005159 prostate carcinoma skos:exactMatch NCIT:C4863 Prostate Carcinoma semapv:UnspecifiedMatching MONDO:0005159 prostate carcinoma skos:exactMatch UMLS:C0600139 semapv:UnspecifiedMatching MONDO:0005160 aortic aneurysm skos:exactMatch DOID:3627 aortic aneurysm semapv:UnspecifiedMatching MONDO:0005160 aortic aneurysm skos:exactMatch EFO:0001666 semapv:UnspecifiedMatching MONDO:0005160 aortic aneurysm skos:exactMatch MEDGEN:362 semapv:UnspecifiedMatching MONDO:0005160 aortic aneurysm skos:exactMatch SCTID:73067008 semapv:UnspecifiedMatching MONDO:0005160 aortic aneurysm skos:exactMatch UMLS:C0003486 semapv:UnspecifiedMatching MONDO:0005160 aortic aneurysm skos:exactMatch mesh:D001014 semapv:UnspecifiedMatching MONDO:0005161 human papilloma virus infection skos:exactMatch DOID:11166 Human papillomavirus infectious disease semapv:UnspecifiedMatching MONDO:0005161 human papilloma virus infection skos:exactMatch EFO:0001668 semapv:UnspecifiedMatching MONDO:0005161 human papilloma virus infection skos:exactMatch MEDGEN:87475 semapv:UnspecifiedMatching MONDO:0005161 human papilloma virus infection skos:exactMatch NCIT:C27851 Human Papillomavirus Infection semapv:UnspecifiedMatching MONDO:0005161 human papilloma virus infection skos:exactMatch SCTID:240532009 semapv:UnspecifiedMatching MONDO:0005161 human papilloma virus infection skos:exactMatch UMLS:C0343641 semapv:UnspecifiedMatching MONDO:0005161 human papilloma virus infection skos:exactMatch mesh:D030361 semapv:UnspecifiedMatching MONDO:0005163 simian immunodeficiency virus infection skos:exactMatch EFO:0001675 semapv:UnspecifiedMatching MONDO:0005164 fibrosarcoma skos:exactMatch DOID:3355 fibrosarcoma semapv:UnspecifiedMatching MONDO:0005164 fibrosarcoma skos:exactMatch EFO:0002087 semapv:UnspecifiedMatching MONDO:0005164 fibrosarcoma skos:exactMatch MEDGEN:5178 semapv:UnspecifiedMatching MONDO:0005164 fibrosarcoma skos:exactMatch NCIT:C3043 Fibrosarcoma semapv:UnspecifiedMatching MONDO:0005164 fibrosarcoma skos:exactMatch Orphanet:2030 Fibrosarcoma semapv:UnspecifiedMatching MONDO:0005164 fibrosarcoma skos:exactMatch SCTID:443250000 semapv:UnspecifiedMatching MONDO:0005164 fibrosarcoma skos:exactMatch UMLS:C0016057 semapv:UnspecifiedMatching MONDO:0005164 fibrosarcoma skos:exactMatch mesh:D005354 semapv:UnspecifiedMatching MONDO:0005165 benign neoplasm skos:exactMatch DOID:0060072 benign neoplasm semapv:UnspecifiedMatching MONDO:0005165 benign neoplasm skos:exactMatch DOID:0060084 cell type benign neoplasm semapv:UnspecifiedMatching MONDO:0005165 benign neoplasm skos:exactMatch DOID:0060085 organ system benign neoplasm semapv:UnspecifiedMatching MONDO:0005165 benign neoplasm skos:exactMatch EFO:0002422 semapv:UnspecifiedMatching MONDO:0005165 benign neoplasm skos:exactMatch ICD10CM:D10-D36 Benign neoplasms, except benign neuroendocrine tumors (D10-D36) semapv:UnspecifiedMatching MONDO:0005165 benign neoplasm skos:exactMatch ICD10WHO:D10-D36 Benign neoplasms semapv:UnspecifiedMatching MONDO:0005165 benign neoplasm skos:exactMatch MEDGEN:39483 semapv:UnspecifiedMatching MONDO:0005165 benign neoplasm skos:exactMatch NCIT:C3677 Benign Neoplasm semapv:UnspecifiedMatching MONDO:0005165 benign neoplasm skos:exactMatch SCTID:20376005 semapv:UnspecifiedMatching MONDO:0005165 benign neoplasm skos:exactMatch UMLS:C0086692 semapv:UnspecifiedMatching MONDO:0005166 osteoma skos:exactMatch EFO:0002423 semapv:UnspecifiedMatching MONDO:0005166 osteoma skos:exactMatch MEDGEN:18220 semapv:UnspecifiedMatching MONDO:0005166 osteoma skos:exactMatch NCIT:C3296 Osteoma semapv:UnspecifiedMatching MONDO:0005166 osteoma skos:exactMatch SCTID:302858007 semapv:UnspecifiedMatching MONDO:0005166 osteoma skos:exactMatch UMLS:C0029440 semapv:UnspecifiedMatching MONDO:0005166 osteoma skos:exactMatch mesh:D010016 semapv:UnspecifiedMatching MONDO:0005167 fibroma skos:exactMatch DOID:0050871 fibroma semapv:UnspecifiedMatching MONDO:0005167 fibroma skos:exactMatch EFO:0002424 semapv:UnspecifiedMatching MONDO:0005167 fibroma skos:exactMatch MEDGEN:42016 semapv:UnspecifiedMatching MONDO:0005167 fibroma skos:exactMatch NCIT:C3041 Fibroma semapv:UnspecifiedMatching MONDO:0005167 fibroma skos:exactMatch SCTID:424568000 semapv:UnspecifiedMatching MONDO:0005167 fibroma skos:exactMatch UMLS:C0016045 semapv:UnspecifiedMatching MONDO:0005167 fibroma skos:exactMatch mesh:D005350 semapv:UnspecifiedMatching MONDO:0005169 neoplasm of mature T-cells or NK-cells skos:exactMatch EFO:0002426 semapv:UnspecifiedMatching MONDO:0005169 neoplasm of mature T-cells or NK-cells skos:exactMatch MEDGEN:233675 semapv:UnspecifiedMatching MONDO:0005169 neoplasm of mature T-cells or NK-cells skos:exactMatch NCIT:C27909 Mature T-Cell and NK-Cell Neoplasm semapv:UnspecifiedMatching MONDO:0005169 neoplasm of mature T-cells or NK-cells skos:exactMatch UMLS:C1334640 semapv:UnspecifiedMatching MONDO:0005170 myeloid neoplasm skos:exactMatch DOID:0070004 myeloid neoplasm semapv:UnspecifiedMatching MONDO:0005170 myeloid neoplasm skos:exactMatch EFO:0002427 semapv:UnspecifiedMatching MONDO:0005170 myeloid neoplasm skos:exactMatch MEDGEN:445430 semapv:UnspecifiedMatching MONDO:0005170 myeloid neoplasm skos:exactMatch NCIT:C9290 Myeloid Neoplasm semapv:UnspecifiedMatching MONDO:0005170 myeloid neoplasm skos:exactMatch UMLS:C2939461 semapv:UnspecifiedMatching MONDO:0005172 skeletal system disorder skos:exactMatch EFO:0002461 semapv:UnspecifiedMatching MONDO:0005172 skeletal system disorder skos:exactMatch MEDGEN:538042 semapv:UnspecifiedMatching MONDO:0005172 skeletal system disorder skos:exactMatch SCTID:88230002 semapv:UnspecifiedMatching MONDO:0005172 skeletal system disorder skos:exactMatch UMLS:C0263661 semapv:UnspecifiedMatching MONDO:0005173 actinic keratosis skos:exactMatch DOID:8866 actinic keratosis semapv:UnspecifiedMatching MONDO:0005173 actinic keratosis skos:exactMatch EFO:0002496 semapv:UnspecifiedMatching MONDO:0005173 actinic keratosis skos:exactMatch ICD10CM:L57.0 Actinic keratosis semapv:UnspecifiedMatching MONDO:0005173 actinic keratosis skos:exactMatch MEDGEN:9627 semapv:UnspecifiedMatching MONDO:0005173 actinic keratosis skos:exactMatch NCIT:C3148 Actinic Keratosis semapv:UnspecifiedMatching MONDO:0005173 actinic keratosis skos:exactMatch SCTID:201101007 semapv:UnspecifiedMatching MONDO:0005173 actinic keratosis skos:exactMatch UMLS:C0022602 semapv:UnspecifiedMatching MONDO:0005173 actinic keratosis skos:exactMatch icd11.foundation:1803982621 Actinic keratosis semapv:UnspecifiedMatching MONDO:0005173 actinic keratosis skos:exactMatch mesh:D055623 semapv:UnspecifiedMatching MONDO:0005174 acute hypotension skos:exactMatch EFO:0002497 semapv:UnspecifiedMatching MONDO:0005174 acute hypotension skos:exactMatch MEDGEN:1843489 semapv:UnspecifiedMatching MONDO:0005174 acute hypotension skos:exactMatch UMLS:C0745176 semapv:UnspecifiedMatching MONDO:0005177 serous cystadenoma skos:exactMatch EFO:0002504 semapv:UnspecifiedMatching MONDO:0005177 serous cystadenoma skos:exactMatch MEDGEN:64636 semapv:UnspecifiedMatching MONDO:0005177 serous cystadenoma skos:exactMatch NCIT:C3783 Serous Cystadenoma semapv:UnspecifiedMatching MONDO:0005177 serous cystadenoma skos:exactMatch UMLS:C0206709 semapv:UnspecifiedMatching MONDO:0005178 osteoarthritis skos:exactMatch DOID:8398 osteoarthritis semapv:UnspecifiedMatching MONDO:0005178 osteoarthritis skos:exactMatch ICD10CM:M15-M19 Osteoarthritis (M15-M19) semapv:UnspecifiedMatching MONDO:0005178 osteoarthritis skos:exactMatch ICD10CM:M19 Other and unspecified osteoarthritis semapv:UnspecifiedMatching MONDO:0005178 osteoarthritis skos:exactMatch MEDGEN:45244 semapv:UnspecifiedMatching MONDO:0005178 osteoarthritis skos:exactMatch NCIT:C3293 Osteoarthritis semapv:UnspecifiedMatching MONDO:0005178 osteoarthritis skos:exactMatch SCTID:396275006 semapv:UnspecifiedMatching MONDO:0005178 osteoarthritis skos:exactMatch UMLS:C0029408 semapv:UnspecifiedMatching MONDO:0005178 osteoarthritis skos:exactMatch icd11.foundation:558562409 Osteoarthritis semapv:UnspecifiedMatching MONDO:0005178 osteoarthritis skos:exactMatch mesh:D010003 semapv:UnspecifiedMatching MONDO:0005180 Parkinson disease skos:exactMatch DOID:14330 Parkinson's disease semapv:UnspecifiedMatching MONDO:0005180 Parkinson disease skos:exactMatch ICD10CM:G20 Parkinson's disease semapv:UnspecifiedMatching MONDO:0005180 Parkinson disease skos:exactMatch ICD10WHO:G20 Parkinson disease semapv:UnspecifiedMatching MONDO:0005180 Parkinson disease skos:exactMatch MEDGEN:10590 semapv:UnspecifiedMatching MONDO:0005180 Parkinson disease skos:exactMatch NCIT:C26845 Parkinson Disease semapv:UnspecifiedMatching MONDO:0005180 Parkinson disease skos:exactMatch OMIMPS:168600 Parkinson disease semapv:UnspecifiedMatching MONDO:0005180 Parkinson disease skos:exactMatch SCTID:49049000 semapv:UnspecifiedMatching MONDO:0005180 Parkinson disease skos:exactMatch UMLS:C0030567 semapv:UnspecifiedMatching MONDO:0005180 Parkinson disease skos:exactMatch icd11.foundation:296066191 Parkinson disease semapv:UnspecifiedMatching MONDO:0005180 Parkinson disease skos:exactMatch mesh:D010300 semapv:UnspecifiedMatching MONDO:0005181 progressive external ophthalmoplegia skos:exactMatch DOID:12558 chronic progressive external ophthalmoplegia semapv:UnspecifiedMatching MONDO:0005181 progressive external ophthalmoplegia skos:exactMatch EFO:0002509 semapv:UnspecifiedMatching MONDO:0005181 progressive external ophthalmoplegia skos:exactMatch ICD10CM:H49.4 Progressive external ophthalmoplegia semapv:UnspecifiedMatching MONDO:0005181 progressive external ophthalmoplegia skos:exactMatch MEDGEN:102439 semapv:UnspecifiedMatching MONDO:0005181 progressive external ophthalmoplegia skos:exactMatch Orphanet:520820 Progressive external ophthalmoplegia semapv:UnspecifiedMatching MONDO:0005181 progressive external ophthalmoplegia skos:exactMatch SCTID:46252003 semapv:UnspecifiedMatching MONDO:0005181 progressive external ophthalmoplegia skos:exactMatch UMLS:C0162674 semapv:UnspecifiedMatching MONDO:0005181 progressive external ophthalmoplegia skos:exactMatch icd11.foundation:1698427219 Progressive external ophthalmoplegia semapv:UnspecifiedMatching MONDO:0005181 progressive external ophthalmoplegia skos:exactMatch mesh:D017246 semapv:UnspecifiedMatching MONDO:0005182 serous cystadenofibroma skos:exactMatch EFO:0002510 semapv:UnspecifiedMatching MONDO:0005183 ovarian cystadenoma skos:exactMatch DOID:3269 ovarian cystadenoma semapv:UnspecifiedMatching MONDO:0005183 ovarian cystadenoma skos:exactMatch EFO:0002511 semapv:UnspecifiedMatching MONDO:0005183 ovarian cystadenoma skos:exactMatch MEDGEN:138041 semapv:UnspecifiedMatching MONDO:0005183 ovarian cystadenoma skos:exactMatch NCIT:C4060 Ovarian Cystadenoma semapv:UnspecifiedMatching MONDO:0005183 ovarian cystadenoma skos:exactMatch SCTID:198297004 semapv:UnspecifiedMatching MONDO:0005183 ovarian cystadenoma skos:exactMatch UMLS:C0346169 semapv:UnspecifiedMatching MONDO:0005184 pancreatic ductal adenocarcinoma skos:exactMatch DOID:3498 pancreatic ductal adenocarcinoma semapv:UnspecifiedMatching MONDO:0005184 pancreatic ductal adenocarcinoma skos:exactMatch DOID:3587 pancreatic ductal carcinoma semapv:UnspecifiedMatching MONDO:0005184 pancreatic ductal adenocarcinoma skos:exactMatch EFO:0002517 semapv:UnspecifiedMatching MONDO:0005184 pancreatic ductal adenocarcinoma skos:exactMatch MEDGEN:277490 semapv:UnspecifiedMatching MONDO:0005184 pancreatic ductal adenocarcinoma skos:exactMatch NCIT:C9120 Pancreatic Ductal Adenocarcinoma semapv:UnspecifiedMatching MONDO:0005184 pancreatic ductal adenocarcinoma skos:exactMatch UMLS:C1335302 semapv:UnspecifiedMatching MONDO:0005184 pancreatic ductal adenocarcinoma skos:exactMatch icd11.foundation:581089833 Ductal adenocarcinoma of pancreas semapv:UnspecifiedMatching MONDO:0005184 pancreatic ductal adenocarcinoma skos:exactMatch mesh:D021441 semapv:UnspecifiedMatching MONDO:0005185 chronic childhood arthritis skos:exactMatch NCIT:C27179 Juvenile Rheumatoid Arthritis semapv:UnspecifiedMatching MONDO:0005185 chronic childhood arthritis skos:exactMatch SCTID:410793008 semapv:UnspecifiedMatching MONDO:0005186 cocaine dependence skos:exactMatch DOID:9975 cocaine dependence semapv:UnspecifiedMatching MONDO:0005186 cocaine dependence skos:exactMatch EFO:0002610 semapv:UnspecifiedMatching MONDO:0005186 cocaine dependence skos:exactMatch ICD10CM:F14.2 Cocaine dependence semapv:UnspecifiedMatching MONDO:0005186 cocaine dependence skos:exactMatch MEDGEN:154705 semapv:UnspecifiedMatching MONDO:0005186 cocaine dependence skos:exactMatch NCIT:C34492 Cocaine Dependence semapv:UnspecifiedMatching MONDO:0005186 cocaine dependence skos:exactMatch SCTID:31956009 semapv:UnspecifiedMatching MONDO:0005186 cocaine dependence skos:exactMatch UMLS:C0600427 semapv:UnspecifiedMatching MONDO:0005186 cocaine dependence skos:exactMatch icd11.foundation:1691013484 Cocaine dependence semapv:UnspecifiedMatching MONDO:0005187 human herpesvirus 8 infection skos:exactMatch EFO:0002612 semapv:UnspecifiedMatching MONDO:0005187 human herpesvirus 8 infection skos:exactMatch MEDGEN:268211 semapv:UnspecifiedMatching MONDO:0005187 human herpesvirus 8 infection skos:exactMatch NCIT:C39291 HHV8 Infection semapv:UnspecifiedMatching MONDO:0005187 human herpesvirus 8 infection skos:exactMatch UMLS:C1512508 semapv:UnspecifiedMatching MONDO:0005188 iatrogenic Kaposi's sarcoma skos:exactMatch MEDGEN:235203 semapv:UnspecifiedMatching MONDO:0005188 iatrogenic Kaposi's sarcoma skos:exactMatch NCIT:C35873 Iatrogenic Kaposi Sarcoma semapv:UnspecifiedMatching MONDO:0005188 iatrogenic Kaposi's sarcoma skos:exactMatch UMLS:C1334149 semapv:UnspecifiedMatching MONDO:0005189 internal carotid artery stenosis skos:exactMatch EFO:0002615 semapv:UnspecifiedMatching MONDO:0005189 internal carotid artery stenosis skos:exactMatch MEDGEN:87405 semapv:UnspecifiedMatching MONDO:0005189 internal carotid artery stenosis skos:exactMatch SCTID:233964008 semapv:UnspecifiedMatching MONDO:0005189 internal carotid artery stenosis skos:exactMatch UMLS:C0340569 semapv:UnspecifiedMatching MONDO:0005190 obsolete macroglobulinemia skos:exactMatch DOID:9080 macroglobulinemia semapv:UnspecifiedMatching MONDO:0005190 obsolete macroglobulinemia skos:exactMatch EFO:0002616 semapv:UnspecifiedMatching MONDO:0005190 obsolete macroglobulinemia skos:exactMatch SCTID:190817009 semapv:UnspecifiedMatching MONDO:0005191 metastatic melanoma skos:exactMatch EFO:0002617 semapv:UnspecifiedMatching MONDO:0005191 metastatic melanoma skos:exactMatch MEDGEN:83002 semapv:UnspecifiedMatching MONDO:0005191 metastatic melanoma skos:exactMatch NCIT:C8925 Metastatic Melanoma semapv:UnspecifiedMatching MONDO:0005191 metastatic melanoma skos:exactMatch SCTID:443493003 semapv:UnspecifiedMatching MONDO:0005191 metastatic melanoma skos:exactMatch UMLS:C0278883 semapv:UnspecifiedMatching MONDO:0005192 exocrine pancreatic carcinoma skos:exactMatch DOID:4905 pancreatic carcinoma semapv:UnspecifiedMatching MONDO:0005192 exocrine pancreatic carcinoma skos:exactMatch EFO:0002618 semapv:UnspecifiedMatching MONDO:0005192 exocrine pancreatic carcinoma skos:exactMatch MEDGEN:65917 semapv:UnspecifiedMatching MONDO:0005192 exocrine pancreatic carcinoma skos:exactMatch NCIT:C3850 Exocrine Pancreas Carcinoma semapv:UnspecifiedMatching MONDO:0005192 exocrine pancreatic carcinoma skos:exactMatch SCTID:372142002 semapv:UnspecifiedMatching MONDO:0005192 exocrine pancreatic carcinoma skos:exactMatch UMLS:C0235974 semapv:UnspecifiedMatching MONDO:0005193 prostate intraepithelial neoplasia skos:exactMatch EFO:0002621 semapv:UnspecifiedMatching MONDO:0005193 prostate intraepithelial neoplasia skos:exactMatch ICD10CM:N42.31 Prostatic intraepithelial neoplasia semapv:UnspecifiedMatching MONDO:0005193 prostate intraepithelial neoplasia skos:exactMatch MEDGEN:76480 semapv:UnspecifiedMatching MONDO:0005193 prostate intraepithelial neoplasia skos:exactMatch NCIT:C4064 Prostatic Intraepithelial Neoplasia semapv:UnspecifiedMatching MONDO:0005193 prostate intraepithelial neoplasia skos:exactMatch SCTID:254901000 semapv:UnspecifiedMatching MONDO:0005193 prostate intraepithelial neoplasia skos:exactMatch UMLS:C0282612 semapv:UnspecifiedMatching MONDO:0005193 prostate intraepithelial neoplasia skos:exactMatch mesh:D019048 semapv:UnspecifiedMatching MONDO:0005194 Rotavirus infection skos:exactMatch EFO:0002622 semapv:UnspecifiedMatching MONDO:0005194 Rotavirus infection skos:exactMatch MEDGEN:19835 semapv:UnspecifiedMatching MONDO:0005194 Rotavirus infection skos:exactMatch SCTID:18624000 semapv:UnspecifiedMatching MONDO:0005194 Rotavirus infection skos:exactMatch UMLS:C0035869 semapv:UnspecifiedMatching MONDO:0005194 Rotavirus infection skos:exactMatch mesh:D012400 semapv:UnspecifiedMatching MONDO:0005195 septic peritonitis skos:exactMatch EFO:0002623 semapv:UnspecifiedMatching MONDO:0005195 septic peritonitis skos:exactMatch MEDGEN:574434 semapv:UnspecifiedMatching MONDO:0005195 septic peritonitis skos:exactMatch UMLS:C0341503 semapv:UnspecifiedMatching MONDO:0005195 septic peritonitis skos:exactMatch icd11.foundation:1560416608 Septic peritonitis semapv:UnspecifiedMatching MONDO:0005196 obsolete teratozoospermia skos:exactMatch SCTID:236817003 semapv:UnspecifiedMatching MONDO:0005197 thymus neoplasm skos:exactMatch EFO:0002626 semapv:UnspecifiedMatching MONDO:0005197 thymus neoplasm skos:exactMatch MEDGEN:811424 semapv:UnspecifiedMatching MONDO:0005197 thymus neoplasm skos:exactMatch NCIT:C3412 Thymus Neoplasm semapv:UnspecifiedMatching MONDO:0005197 thymus neoplasm skos:exactMatch Orphanet:100100 Thymic tumor semapv:UnspecifiedMatching MONDO:0005197 thymus neoplasm skos:exactMatch SCTID:127231009 semapv:UnspecifiedMatching MONDO:0005197 thymus neoplasm skos:exactMatch UMLS:C3714644 semapv:UnspecifiedMatching MONDO:0005198 vulvar intraepithelial neoplasia skos:exactMatch EFO:0002627 semapv:UnspecifiedMatching MONDO:0005198 vulvar intraepithelial neoplasia skos:exactMatch MEDGEN:91093 semapv:UnspecifiedMatching MONDO:0005198 vulvar intraepithelial neoplasia skos:exactMatch NCIT:C4756 Vulvar Intraepithelial Neoplasia semapv:UnspecifiedMatching MONDO:0005198 vulvar intraepithelial neoplasia skos:exactMatch Orphanet:137583 Vulvar intraepithelial neoplasia semapv:UnspecifiedMatching MONDO:0005198 vulvar intraepithelial neoplasia skos:exactMatch UMLS:C0346210 semapv:UnspecifiedMatching MONDO:0005200 viral dilated cardiomyopathy skos:exactMatch EFO:0002629 semapv:UnspecifiedMatching MONDO:0005200 viral dilated cardiomyopathy skos:exactMatch MEDGEN:538852 semapv:UnspecifiedMatching MONDO:0005200 viral dilated cardiomyopathy skos:exactMatch SCTID:30496006 semapv:UnspecifiedMatching MONDO:0005200 viral dilated cardiomyopathy skos:exactMatch UMLS:C0264797 semapv:UnspecifiedMatching MONDO:0005201 restrictive cardiomyopathy skos:exactMatch DOID:397 restrictive cardiomyopathy semapv:UnspecifiedMatching MONDO:0005201 restrictive cardiomyopathy skos:exactMatch EFO:0002630 semapv:UnspecifiedMatching MONDO:0005201 restrictive cardiomyopathy skos:exactMatch MEDGEN:40111 semapv:UnspecifiedMatching MONDO:0005201 restrictive cardiomyopathy skos:exactMatch NCIT:C62798 Restrictive Cardiomyopathy semapv:UnspecifiedMatching MONDO:0005201 restrictive cardiomyopathy skos:exactMatch Orphanet:217632 Restrictive cardiomyopathy semapv:UnspecifiedMatching MONDO:0005201 restrictive cardiomyopathy skos:exactMatch SCTID:415295002 semapv:UnspecifiedMatching MONDO:0005201 restrictive cardiomyopathy skos:exactMatch UMLS:C0007196 semapv:UnspecifiedMatching MONDO:0005201 restrictive cardiomyopathy skos:exactMatch icd11.foundation:316495940 Restrictive cardiomyopathy semapv:UnspecifiedMatching MONDO:0005201 restrictive cardiomyopathy skos:exactMatch mesh:D002313 semapv:UnspecifiedMatching MONDO:0005202 atopic IgE-mediated allergic disorder skos:exactMatch EFO:0002686 semapv:UnspecifiedMatching MONDO:0005202 atopic IgE-mediated allergic disorder skos:exactMatch MEDGEN:739536 semapv:UnspecifiedMatching MONDO:0005202 atopic IgE-mediated allergic disorder skos:exactMatch SCTID:115665000 semapv:UnspecifiedMatching MONDO:0005202 atopic IgE-mediated allergic disorder skos:exactMatch UMLS:C1706410 semapv:UnspecifiedMatching MONDO:0005203 ischemia reperfusion injury skos:exactMatch EFO:0002687 semapv:UnspecifiedMatching MONDO:0005203 ischemia reperfusion injury skos:exactMatch mesh:D015427 semapv:UnspecifiedMatching MONDO:0005204 primary antiphospholipid syndrome skos:exactMatch MEDGEN:592740 semapv:UnspecifiedMatching MONDO:0005204 primary antiphospholipid syndrome skos:exactMatch SCTID:239892009 semapv:UnspecifiedMatching MONDO:0005204 primary antiphospholipid syndrome skos:exactMatch UMLS:C0409980 semapv:UnspecifiedMatching MONDO:0005204 primary antiphospholipid syndrome skos:exactMatch icd11.foundation:85700944 Primary antiphospholipid syndrome semapv:UnspecifiedMatching MONDO:0005206 renal carcinoma skos:exactMatch DOID:4451 renal carcinoma semapv:UnspecifiedMatching MONDO:0005206 renal carcinoma skos:exactMatch EFO:0002890 semapv:UnspecifiedMatching MONDO:0005206 renal carcinoma skos:exactMatch MEDGEN:235133 semapv:UnspecifiedMatching MONDO:0005206 renal carcinoma skos:exactMatch NCIT:C9384 Kidney Carcinoma semapv:UnspecifiedMatching MONDO:0005206 renal carcinoma skos:exactMatch UMLS:C1378703 semapv:UnspecifiedMatching MONDO:0005206 renal carcinoma skos:exactMatch icd11.foundation:1075394530 Renal carcinoma semapv:UnspecifiedMatching MONDO:0005207 choriocarcinoma skos:exactMatch DOID:3594 choriocarcinoma semapv:UnspecifiedMatching MONDO:0005207 choriocarcinoma skos:exactMatch EFO:0002893 semapv:UnspecifiedMatching MONDO:0005207 choriocarcinoma skos:exactMatch MEDGEN:40278 semapv:UnspecifiedMatching MONDO:0005207 choriocarcinoma skos:exactMatch NCIT:C2948 Choriocarcinoma semapv:UnspecifiedMatching MONDO:0005207 choriocarcinoma skos:exactMatch SCTID:188188009 semapv:UnspecifiedMatching MONDO:0005207 choriocarcinoma skos:exactMatch UMLS:C0008497 semapv:UnspecifiedMatching MONDO:0005207 choriocarcinoma skos:exactMatch mesh:D002822 semapv:UnspecifiedMatching MONDO:0005208 amelanotic skin melanoma skos:exactMatch DOID:10054 skin amelanotic melanoma semapv:UnspecifiedMatching MONDO:0005208 amelanotic skin melanoma skos:exactMatch EFO:0002894 semapv:UnspecifiedMatching MONDO:0005208 amelanotic skin melanoma skos:exactMatch MEDGEN:91149 semapv:UnspecifiedMatching MONDO:0005208 amelanotic skin melanoma skos:exactMatch NCIT:C4633 Cutaneous Amelanotic Melanoma semapv:UnspecifiedMatching MONDO:0005208 amelanotic skin melanoma skos:exactMatch UMLS:C0349515 semapv:UnspecifiedMatching MONDO:0005210 uterine corpus sarcoma skos:exactMatch DOID:5165 uterine corpus sarcoma semapv:UnspecifiedMatching MONDO:0005210 uterine corpus sarcoma skos:exactMatch EFO:0002914 semapv:UnspecifiedMatching MONDO:0005210 uterine corpus sarcoma skos:exactMatch MEDGEN:137837 semapv:UnspecifiedMatching MONDO:0005210 uterine corpus sarcoma skos:exactMatch NCIT:C6339 Uterine Corpus Sarcoma semapv:UnspecifiedMatching MONDO:0005210 uterine corpus sarcoma skos:exactMatch Orphanet:213620 Sarcoma of the corpus uteri semapv:UnspecifiedMatching MONDO:0005210 uterine corpus sarcoma skos:exactMatch SCTID:254877001 semapv:UnspecifiedMatching MONDO:0005210 uterine corpus sarcoma skos:exactMatch UMLS:C0338113 semapv:UnspecifiedMatching MONDO:0005211 ovarian serous adenocarcinoma skos:exactMatch DOID:0050933 ovarian serous carcinoma semapv:UnspecifiedMatching MONDO:0005211 ovarian serous adenocarcinoma skos:exactMatch DOID:5744 ovary serous adenocarcinoma semapv:UnspecifiedMatching MONDO:0005211 ovarian serous adenocarcinoma skos:exactMatch EFO:0002917 semapv:UnspecifiedMatching MONDO:0005211 ovarian serous adenocarcinoma skos:exactMatch MEDGEN:233278 semapv:UnspecifiedMatching MONDO:0005211 ovarian serous adenocarcinoma skos:exactMatch NCIT:C7550 Ovarian Serous Adenocarcinoma semapv:UnspecifiedMatching MONDO:0005211 ovarian serous adenocarcinoma skos:exactMatch UMLS:C1335177 semapv:UnspecifiedMatching MONDO:0005212 rhabdomyosarcoma skos:exactMatch DOID:3247 rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0005212 rhabdomyosarcoma skos:exactMatch EFO:0002918 semapv:UnspecifiedMatching MONDO:0005212 rhabdomyosarcoma skos:exactMatch MEDGEN:20561 semapv:UnspecifiedMatching MONDO:0005212 rhabdomyosarcoma skos:exactMatch NCIT:C3359 Rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0005212 rhabdomyosarcoma skos:exactMatch Orphanet:780 Rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0005212 rhabdomyosarcoma skos:exactMatch SCTID:302847003 semapv:UnspecifiedMatching MONDO:0005212 rhabdomyosarcoma skos:exactMatch UMLS:C0035412 semapv:UnspecifiedMatching MONDO:0005212 rhabdomyosarcoma skos:exactMatch mesh:D012208 semapv:UnspecifiedMatching MONDO:0005213 uterine carcinoma skos:exactMatch EFO:0002919 semapv:UnspecifiedMatching MONDO:0005213 uterine carcinoma skos:exactMatch MEDGEN:755620 semapv:UnspecifiedMatching MONDO:0005213 uterine carcinoma skos:exactMatch SCTID:446022000 semapv:UnspecifiedMatching MONDO:0005213 uterine carcinoma skos:exactMatch UMLS:C2960452 semapv:UnspecifiedMatching MONDO:0005214 vulva sarcoma skos:exactMatch DOID:2096 vulvar sarcoma semapv:UnspecifiedMatching MONDO:0005214 vulva sarcoma skos:exactMatch MEDGEN:65972 semapv:UnspecifiedMatching MONDO:0005214 vulva sarcoma skos:exactMatch NCIT:C40317 Vulvar Sarcoma semapv:UnspecifiedMatching MONDO:0005214 vulva sarcoma skos:exactMatch SCTID:254897006 semapv:UnspecifiedMatching MONDO:0005214 vulva sarcoma skos:exactMatch UMLS:C0238525 semapv:UnspecifiedMatching MONDO:0005215 vulvar carcinoma skos:exactMatch DOID:1294 vulva carcinoma semapv:UnspecifiedMatching MONDO:0005215 vulvar carcinoma skos:exactMatch EFO:0002921 semapv:UnspecifiedMatching MONDO:0005215 vulvar carcinoma skos:exactMatch MEDGEN:146159 semapv:UnspecifiedMatching MONDO:0005215 vulvar carcinoma skos:exactMatch NCIT:C4866 Vulvar Carcinoma semapv:UnspecifiedMatching MONDO:0005215 vulvar carcinoma skos:exactMatch Orphanet:494418 Vulvar carcinoma semapv:UnspecifiedMatching MONDO:0005215 vulvar carcinoma skos:exactMatch SCTID:447882007 semapv:UnspecifiedMatching MONDO:0005215 vulvar carcinoma skos:exactMatch UMLS:C0677055 semapv:UnspecifiedMatching MONDO:0005216 hypopharyngeal carcinoma skos:exactMatch EFO:0002938 semapv:UnspecifiedMatching MONDO:0005216 hypopharyngeal carcinoma skos:exactMatch MEDGEN:237150 semapv:UnspecifiedMatching MONDO:0005216 hypopharyngeal carcinoma skos:exactMatch NCIT:C9465 Hypopharyngeal Carcinoma semapv:UnspecifiedMatching MONDO:0005216 hypopharyngeal carcinoma skos:exactMatch UMLS:C1368404 semapv:UnspecifiedMatching MONDO:0005217 familial cardiomyopathy skos:exactMatch EFO:0002945 semapv:UnspecifiedMatching MONDO:0005217 familial cardiomyopathy skos:exactMatch MEDGEN:538845 semapv:UnspecifiedMatching MONDO:0005217 familial cardiomyopathy skos:exactMatch SCTID:35728003 semapv:UnspecifiedMatching MONDO:0005217 familial cardiomyopathy skos:exactMatch UMLS:C0264789 semapv:UnspecifiedMatching MONDO:0005217 familial cardiomyopathy skos:exactMatch icd11.foundation:1018022925 Familial cardiomyopathy semapv:UnspecifiedMatching MONDO:0005219 breast fibrocystic disease skos:exactMatch DOID:10354 breast fibrocystic disease semapv:UnspecifiedMatching MONDO:0005219 breast fibrocystic disease skos:exactMatch EFO:0003014 semapv:UnspecifiedMatching MONDO:0005219 breast fibrocystic disease skos:exactMatch ICD10CM:N60.1 Diffuse cystic mastopathy semapv:UnspecifiedMatching MONDO:0005219 breast fibrocystic disease skos:exactMatch MEDGEN:42015 semapv:UnspecifiedMatching MONDO:0005219 breast fibrocystic disease skos:exactMatch NCIT:C3039 Breast Fibrocystic Change semapv:UnspecifiedMatching MONDO:0005219 breast fibrocystic disease skos:exactMatch UMLS:C0016034 semapv:UnspecifiedMatching MONDO:0005219 breast fibrocystic disease skos:exactMatch mesh:D005348 semapv:UnspecifiedMatching MONDO:0005220 collecting duct carcinoma skos:exactMatch DOID:4464 collecting duct carcinoma semapv:UnspecifiedMatching MONDO:0005220 collecting duct carcinoma skos:exactMatch EFO:0003016 semapv:UnspecifiedMatching MONDO:0005220 collecting duct carcinoma skos:exactMatch MEDGEN:266092 semapv:UnspecifiedMatching MONDO:0005220 collecting duct carcinoma skos:exactMatch NCIT:C6194 Collecting Duct Carcinoma semapv:UnspecifiedMatching MONDO:0005220 collecting duct carcinoma skos:exactMatch Orphanet:247203 Collecting duct carcinoma semapv:UnspecifiedMatching MONDO:0005220 collecting duct carcinoma skos:exactMatch UMLS:C1266044 semapv:UnspecifiedMatching MONDO:0005220 collecting duct carcinoma skos:exactMatch icd11.foundation:1481495173 Collecting duct carcinoma semapv:UnspecifiedMatching MONDO:0005221 renal pelvis urothelial carcinoma skos:exactMatch DOID:5974 renal pelvis transitional cell carcinoma semapv:UnspecifiedMatching MONDO:0005221 renal pelvis urothelial carcinoma skos:exactMatch EFO:0003017 semapv:UnspecifiedMatching MONDO:0005221 renal pelvis urothelial carcinoma skos:exactMatch MEDGEN:1648131 semapv:UnspecifiedMatching MONDO:0005221 renal pelvis urothelial carcinoma skos:exactMatch NCIT:C7355 Renal Pelvis Urothelial Carcinoma semapv:UnspecifiedMatching MONDO:0005221 renal pelvis urothelial carcinoma skos:exactMatch SCTID:408642003 semapv:UnspecifiedMatching MONDO:0005221 renal pelvis urothelial carcinoma skos:exactMatch UMLS:C4087468 semapv:UnspecifiedMatching MONDO:0005223 acute myeloid leukemia with minimal differentiation skos:exactMatch DOID:0081085 acute myeloid leukemia with minimal differentiation semapv:UnspecifiedMatching MONDO:0005223 acute myeloid leukemia with minimal differentiation skos:exactMatch EFO:0003026 semapv:UnspecifiedMatching MONDO:0005223 acute myeloid leukemia with minimal differentiation skos:exactMatch MEDGEN:101100 semapv:UnspecifiedMatching MONDO:0005223 acute myeloid leukemia with minimal differentiation skos:exactMatch NCIT:C8460 Acute Myeloid Leukemia with Minimal Differentiation semapv:UnspecifiedMatching MONDO:0005223 acute myeloid leukemia with minimal differentiation skos:exactMatch Orphanet:98832 Acute myeloid leukemia with minimal differentiation semapv:UnspecifiedMatching MONDO:0005223 acute myeloid leukemia with minimal differentiation skos:exactMatch UMLS:C0522631 semapv:UnspecifiedMatching MONDO:0005223 acute myeloid leukemia with minimal differentiation skos:exactMatch icd11.foundation:1468530237 Acute myeloid leukaemia with minimal differentiation semapv:UnspecifiedMatching MONDO:0005224 acute myeloblastic leukemia without maturation skos:exactMatch DOID:0081086 acute myeloid leukemia without maturation semapv:UnspecifiedMatching MONDO:0005224 acute myeloblastic leukemia without maturation skos:exactMatch EFO:0003027 semapv:UnspecifiedMatching MONDO:0005224 acute myeloblastic leukemia without maturation skos:exactMatch MEDGEN:10232 semapv:UnspecifiedMatching MONDO:0005224 acute myeloblastic leukemia without maturation skos:exactMatch NCIT:C3249 Acute Myeloid Leukemia without Maturation semapv:UnspecifiedMatching MONDO:0005224 acute myeloblastic leukemia without maturation skos:exactMatch Orphanet:98833 Acute myeloblastic leukemia without maturation semapv:UnspecifiedMatching MONDO:0005224 acute myeloblastic leukemia without maturation skos:exactMatch SCTID:359640008 semapv:UnspecifiedMatching MONDO:0005224 acute myeloblastic leukemia without maturation skos:exactMatch UMLS:C0026998 semapv:UnspecifiedMatching MONDO:0005227 abscess skos:exactMatch EFO:0003030 semapv:UnspecifiedMatching MONDO:0005227 abscess skos:exactMatch MEDGEN:1684 semapv:UnspecifiedMatching MONDO:0005227 abscess skos:exactMatch NCIT:C26686 Abscess semapv:UnspecifiedMatching MONDO:0005227 abscess skos:exactMatch SCTID:128477000 semapv:UnspecifiedMatching MONDO:0005227 abscess skos:exactMatch UMLS:C0000833 semapv:UnspecifiedMatching MONDO:0005227 abscess skos:exactMatch mesh:D000038 semapv:UnspecifiedMatching MONDO:0005229 bacterial infectious disease with sepsis skos:exactMatch DOID:0040085 bacterial sepsis semapv:UnspecifiedMatching MONDO:0005229 bacterial infectious disease with sepsis skos:exactMatch EFO:0003033 semapv:UnspecifiedMatching MONDO:0005229 bacterial infectious disease with sepsis skos:exactMatch MEDGEN:482 semapv:UnspecifiedMatching MONDO:0005229 bacterial infectious disease with sepsis skos:exactMatch SCTID:5758002 semapv:UnspecifiedMatching MONDO:0005229 bacterial infectious disease with sepsis skos:exactMatch UMLS:C0004610 semapv:UnspecifiedMatching MONDO:0005229 bacterial infectious disease with sepsis skos:exactMatch mesh:D016470 semapv:UnspecifiedMatching MONDO:0005230 cellulitis skos:exactMatch DOID:3488 cellulitis semapv:UnspecifiedMatching MONDO:0005230 cellulitis skos:exactMatch EFO:0003035 semapv:UnspecifiedMatching MONDO:0005230 cellulitis skos:exactMatch ICD10WHO:L03 Cellulitis semapv:UnspecifiedMatching MONDO:0005230 cellulitis skos:exactMatch MEDGEN:40174 semapv:UnspecifiedMatching MONDO:0005230 cellulitis skos:exactMatch NCIT:C26715 Cellulitis semapv:UnspecifiedMatching MONDO:0005230 cellulitis skos:exactMatch SCTID:128045006 semapv:UnspecifiedMatching MONDO:0005230 cellulitis skos:exactMatch UMLS:C0007642 semapv:UnspecifiedMatching MONDO:0005230 cellulitis skos:exactMatch mesh:D002481 semapv:UnspecifiedMatching MONDO:0005231 hepatitis C virus infection skos:exactMatch DOID:1883 hepatitis C semapv:UnspecifiedMatching MONDO:0005231 hepatitis C virus infection skos:exactMatch EFO:0003047 semapv:UnspecifiedMatching MONDO:0005231 hepatitis C virus infection skos:exactMatch MEDGEN:42425 semapv:UnspecifiedMatching MONDO:0005231 hepatitis C virus infection skos:exactMatch NCIT:C3098 Hepatitis C Infection semapv:UnspecifiedMatching MONDO:0005231 hepatitis C virus infection skos:exactMatch SCTID:128302006 semapv:UnspecifiedMatching MONDO:0005231 hepatitis C virus infection skos:exactMatch UMLS:C0019196 semapv:UnspecifiedMatching MONDO:0005231 hepatitis C virus infection skos:exactMatch mesh:D006526 semapv:UnspecifiedMatching MONDO:0005232 large cell carcinoma skos:exactMatch DOID:4552 large cell carcinoma semapv:UnspecifiedMatching MONDO:0005232 large cell carcinoma skos:exactMatch MEDGEN:61665 semapv:UnspecifiedMatching MONDO:0005232 large cell carcinoma skos:exactMatch NCIT:C3780 Large Cell Carcinoma semapv:UnspecifiedMatching MONDO:0005232 large cell carcinoma skos:exactMatch UMLS:C0206704 semapv:UnspecifiedMatching MONDO:0005232 large cell carcinoma skos:exactMatch mesh:D018287 semapv:UnspecifiedMatching MONDO:0005233 non-small cell lung carcinoma skos:exactMatch DOID:3908 lung non-small cell carcinoma semapv:UnspecifiedMatching MONDO:0005233 non-small cell lung carcinoma skos:exactMatch EFO:0003060 semapv:UnspecifiedMatching MONDO:0005233 non-small cell lung carcinoma skos:exactMatch MEDGEN:40104 semapv:UnspecifiedMatching MONDO:0005233 non-small cell lung carcinoma skos:exactMatch NCIT:C2926 Lung Non-Small Cell Carcinoma semapv:UnspecifiedMatching MONDO:0005233 non-small cell lung carcinoma skos:exactMatch SCTID:254637007 semapv:UnspecifiedMatching MONDO:0005233 non-small cell lung carcinoma skos:exactMatch UMLS:C0007131 semapv:UnspecifiedMatching MONDO:0005233 non-small cell lung carcinoma skos:exactMatch mesh:D002289 semapv:UnspecifiedMatching MONDO:0005235 smoldering plasma cell myeloma skos:exactMatch DOID:9551 smoldering myeloma semapv:UnspecifiedMatching MONDO:0005235 smoldering plasma cell myeloma skos:exactMatch EFO:0003073 semapv:UnspecifiedMatching MONDO:0005235 smoldering plasma cell myeloma skos:exactMatch MEDGEN:280653 semapv:UnspecifiedMatching MONDO:0005235 smoldering plasma cell myeloma skos:exactMatch NCIT:C7149 Smoldering Multiple Myeloma semapv:UnspecifiedMatching MONDO:0005235 smoldering plasma cell myeloma skos:exactMatch SCTID:440422002 semapv:UnspecifiedMatching MONDO:0005235 smoldering plasma cell myeloma skos:exactMatch UMLS:C1531608 semapv:UnspecifiedMatching MONDO:0005236 xanthoma skos:exactMatch EFO:0003075 semapv:UnspecifiedMatching MONDO:0005236 xanthoma skos:exactMatch MEDGEN:86216 semapv:UnspecifiedMatching MONDO:0005236 xanthoma skos:exactMatch NCIT:C4071 Xanthoma semapv:UnspecifiedMatching MONDO:0005236 xanthoma skos:exactMatch UMLS:C0302314 semapv:UnspecifiedMatching MONDO:0005238 round cell liposarcoma skos:exactMatch DOID:5692 cellular myxoid liposarcoma semapv:UnspecifiedMatching MONDO:0005238 round cell liposarcoma skos:exactMatch EFO:0003084 semapv:UnspecifiedMatching MONDO:0005238 round cell liposarcoma skos:exactMatch MEDGEN:90787 semapv:UnspecifiedMatching MONDO:0005238 round cell liposarcoma skos:exactMatch NCIT:C4252 Round Cell Liposarcoma semapv:UnspecifiedMatching MONDO:0005238 round cell liposarcoma skos:exactMatch SCTID:404070007 semapv:UnspecifiedMatching MONDO:0005238 round cell liposarcoma skos:exactMatch UMLS:C0334471 semapv:UnspecifiedMatching MONDO:0005240 kidney disorder skos:exactMatch DOID:557 kidney disease semapv:UnspecifiedMatching MONDO:0005240 kidney disorder skos:exactMatch EFO:0003086 semapv:UnspecifiedMatching MONDO:0005240 kidney disorder skos:exactMatch MEDGEN:9635 semapv:UnspecifiedMatching MONDO:0005240 kidney disorder skos:exactMatch NCIT:C3149 Kidney Disorder semapv:UnspecifiedMatching MONDO:0005240 kidney disorder skos:exactMatch SCTID:90708001 semapv:UnspecifiedMatching MONDO:0005240 kidney disorder skos:exactMatch UMLS:C0022658 semapv:UnspecifiedMatching MONDO:0005240 kidney disorder skos:exactMatch mesh:D007674 semapv:UnspecifiedMatching MONDO:0005242 empyema skos:exactMatch EFO:0003097 semapv:UnspecifiedMatching MONDO:0005242 empyema skos:exactMatch MEDGEN:8597 semapv:UnspecifiedMatching MONDO:0005242 empyema skos:exactMatch NCIT:C34572 Empyema semapv:UnspecifiedMatching MONDO:0005242 empyema skos:exactMatch SCTID:312682007 semapv:UnspecifiedMatching MONDO:0005242 empyema skos:exactMatch UMLS:C0014009 semapv:UnspecifiedMatching MONDO:0005242 empyema skos:exactMatch mesh:D004653 semapv:UnspecifiedMatching MONDO:0005244 peripheral neuropathy skos:broadMatch SCTID:386033004 semapv:UnspecifiedMatching MONDO:0005244 peripheral neuropathy skos:exactMatch DOID:870 neuropathy semapv:UnspecifiedMatching MONDO:0005244 peripheral neuropathy skos:exactMatch EFO:0003100 semapv:UnspecifiedMatching MONDO:0005244 peripheral neuropathy skos:exactMatch MEDGEN:18386 semapv:UnspecifiedMatching MONDO:0005244 peripheral neuropathy skos:exactMatch NCIT:C119734 Peripheral Neuropathy semapv:UnspecifiedMatching MONDO:0005244 peripheral neuropathy skos:exactMatch NCIT:C4731 Neuropathy semapv:UnspecifiedMatching MONDO:0005244 peripheral neuropathy skos:exactMatch SCTID:302226006 semapv:UnspecifiedMatching MONDO:0005244 peripheral neuropathy skos:exactMatch UMLS:C0031117 semapv:UnspecifiedMatching MONDO:0005246 osteomyelitis skos:exactMatch DOID:1019 osteomyelitis semapv:UnspecifiedMatching MONDO:0005246 osteomyelitis skos:exactMatch EFO:0003102 semapv:UnspecifiedMatching MONDO:0005246 osteomyelitis skos:exactMatch ICD10CM:M86 Osteomyelitis semapv:UnspecifiedMatching MONDO:0005246 osteomyelitis skos:exactMatch ICD10WHO:M86 Osteomyelitis semapv:UnspecifiedMatching MONDO:0005246 osteomyelitis skos:exactMatch MEDGEN:10497 semapv:UnspecifiedMatching MONDO:0005246 osteomyelitis skos:exactMatch NCIT:C27577 Osteomyelitis semapv:UnspecifiedMatching MONDO:0005246 osteomyelitis skos:exactMatch SCTID:60168000 semapv:UnspecifiedMatching MONDO:0005246 osteomyelitis skos:exactMatch UMLS:C0029443 semapv:UnspecifiedMatching MONDO:0005246 osteomyelitis skos:exactMatch mesh:D010019 semapv:UnspecifiedMatching MONDO:0005247 bacterial urinary tract infection skos:exactMatch MEDGEN:675826 semapv:UnspecifiedMatching MONDO:0005247 bacterial urinary tract infection skos:exactMatch NCIT:C50791 Urinary Tract Infection semapv:UnspecifiedMatching MONDO:0005247 bacterial urinary tract infection skos:exactMatch SCTID:68566005 semapv:UnspecifiedMatching MONDO:0005247 bacterial urinary tract infection skos:exactMatch UMLS:C0729524 semapv:UnspecifiedMatching MONDO:0005249 pneumonia skos:exactMatch DOID:552 pneumonia semapv:UnspecifiedMatching MONDO:0005249 pneumonia skos:exactMatch EFO:0003106 semapv:UnspecifiedMatching MONDO:0005249 pneumonia skos:exactMatch ICD10CM:J18.9 Pneumonia, unspecified organism semapv:UnspecifiedMatching MONDO:0005249 pneumonia skos:exactMatch MEDGEN:10813 semapv:UnspecifiedMatching MONDO:0005249 pneumonia skos:exactMatch NCIT:C3333 Pneumonia semapv:UnspecifiedMatching MONDO:0005249 pneumonia skos:exactMatch SCTID:233604007 semapv:UnspecifiedMatching MONDO:0005249 pneumonia skos:exactMatch UMLS:C0032285 semapv:UnspecifiedMatching MONDO:0005249 pneumonia skos:exactMatch icd11.foundation:142052508 Pneumonia semapv:UnspecifiedMatching MONDO:0005249 pneumonia skos:exactMatch mesh:D011014 semapv:UnspecifiedMatching MONDO:0005250 placental villitis skos:exactMatch EFO:0003110 semapv:UnspecifiedMatching MONDO:0005250 placental villitis skos:exactMatch MEDGEN:693918 semapv:UnspecifiedMatching MONDO:0005250 placental villitis skos:exactMatch SCTID:388604008 semapv:UnspecifiedMatching MONDO:0005250 placental villitis skos:exactMatch UMLS:C1270169 semapv:UnspecifiedMatching MONDO:0005251 obsolete pauciarticular juvenile rheumatoid arthritis skos:exactMatch ICD10CM:M08.4 Pauciarticular juvenile rheumatoid arthritis semapv:UnspecifiedMatching MONDO:0005251 obsolete pauciarticular juvenile rheumatoid arthritis skos:exactMatch SCTID:74391003 semapv:UnspecifiedMatching MONDO:0005252 heart failure skos:exactMatch EFO:0003144 semapv:UnspecifiedMatching MONDO:0005252 heart failure skos:exactMatch ICD10CM:I50 Heart failure semapv:UnspecifiedMatching MONDO:0005252 heart failure skos:exactMatch ICD10WHO:I50 Heart failure semapv:UnspecifiedMatching MONDO:0005252 heart failure skos:exactMatch MEDGEN:6749 semapv:UnspecifiedMatching MONDO:0005252 heart failure skos:exactMatch NCIT:C50577 Heart Failure semapv:UnspecifiedMatching MONDO:0005252 heart failure skos:exactMatch SCTID:84114007 semapv:UnspecifiedMatching MONDO:0005252 heart failure skos:exactMatch UMLS:C0018801 semapv:UnspecifiedMatching MONDO:0005252 heart failure skos:exactMatch icd11.foundation:1458683894 Heart failure semapv:UnspecifiedMatching MONDO:0005252 heart failure skos:exactMatch mesh:D006333 semapv:UnspecifiedMatching MONDO:0005253 high output heart failure skos:exactMatch EFO:0003145 semapv:UnspecifiedMatching MONDO:0005253 high output heart failure skos:exactMatch ICD10CM:I50.83 High output heart failure semapv:UnspecifiedMatching MONDO:0005253 high output heart failure skos:exactMatch MEDGEN:526135 semapv:UnspecifiedMatching MONDO:0005253 high output heart failure skos:exactMatch SCTID:10091002 semapv:UnspecifiedMatching MONDO:0005253 high output heart failure skos:exactMatch UMLS:C0221045 semapv:UnspecifiedMatching MONDO:0005254 symptomatic heart failure skos:exactMatch EFO:0003146 semapv:UnspecifiedMatching MONDO:0005255 mild heart failure skos:exactMatch EFO:0003147 semapv:UnspecifiedMatching MONDO:0005256 moderate heart failure skos:exactMatch EFO:0003148 semapv:UnspecifiedMatching MONDO:0005257 advanced heart failure skos:exactMatch EFO:0003149 semapv:UnspecifiedMatching MONDO:0005258 autism spectrum disorder skos:exactMatch DOID:0060041 autism spectrum disorder semapv:UnspecifiedMatching MONDO:0005258 autism spectrum disorder skos:exactMatch EFO:0003756 semapv:UnspecifiedMatching MONDO:0005258 autism spectrum disorder skos:exactMatch MEDGEN:307153 semapv:UnspecifiedMatching MONDO:0005258 autism spectrum disorder skos:exactMatch NCIT:C88412 Autism Spectrum Disorder semapv:UnspecifiedMatching MONDO:0005258 autism spectrum disorder skos:exactMatch SCTID:408856003 semapv:UnspecifiedMatching MONDO:0005258 autism spectrum disorder skos:exactMatch UMLS:C1510586 semapv:UnspecifiedMatching MONDO:0005258 autism spectrum disorder skos:exactMatch icd11.foundation:437815624 Autism spectrum disorder semapv:UnspecifiedMatching MONDO:0005259 obsolete Asperger syndrome skos:exactMatch EFO:0003757 semapv:UnspecifiedMatching MONDO:0005260 autism skos:exactMatch DOID:12849 autistic disorder semapv:UnspecifiedMatching MONDO:0005260 autism skos:exactMatch EFO:0003758 semapv:UnspecifiedMatching MONDO:0005260 autism skos:exactMatch ICD10CM:F84.0 Autistic disorder semapv:UnspecifiedMatching MONDO:0005260 autism skos:exactMatch MEDGEN:13966 semapv:UnspecifiedMatching MONDO:0005260 autism skos:exactMatch NCIT:C97161 Autism semapv:UnspecifiedMatching MONDO:0005260 autism skos:exactMatch OMIM:209850 autism semapv:UnspecifiedMatching MONDO:0005260 autism skos:exactMatch UMLS:C0004352 semapv:UnspecifiedMatching MONDO:0005260 autism skos:exactMatch mesh:D001321 semapv:UnspecifiedMatching MONDO:0005262 central nervous system cyst skos:exactMatch EFO:0003760 semapv:UnspecifiedMatching MONDO:0005262 central nervous system cyst skos:exactMatch MEDGEN:138106 semapv:UnspecifiedMatching MONDO:0005262 central nervous system cyst skos:exactMatch NCIT:C4657 Central Nervous System Cyst semapv:UnspecifiedMatching MONDO:0005262 central nervous system cyst skos:exactMatch SCTID:277333006 semapv:UnspecifiedMatching MONDO:0005262 central nervous system cyst skos:exactMatch UMLS:C0349606 semapv:UnspecifiedMatching MONDO:0005262 central nervous system cyst skos:exactMatch mesh:D020863 semapv:UnspecifiedMatching MONDO:0005264 transient ischemic attack skos:exactMatch DOID:224 transient cerebral ischemia semapv:UnspecifiedMatching MONDO:0005264 transient ischemic attack skos:exactMatch EFO:0003764 semapv:UnspecifiedMatching MONDO:0005264 transient ischemic attack skos:exactMatch MEDGEN:853 semapv:UnspecifiedMatching MONDO:0005264 transient ischemic attack skos:exactMatch NCIT:C50781 Transient Ischemic Attack semapv:UnspecifiedMatching MONDO:0005264 transient ischemic attack skos:exactMatch SCTID:266257000 semapv:UnspecifiedMatching MONDO:0005264 transient ischemic attack skos:exactMatch UMLS:C0007787 semapv:UnspecifiedMatching MONDO:0005264 transient ischemic attack skos:exactMatch icd11.foundation:826335789 Transient ischaemic attack semapv:UnspecifiedMatching MONDO:0005264 transient ischemic attack skos:exactMatch mesh:D002546 semapv:UnspecifiedMatching MONDO:0005265 inflammatory bowel disease skos:exactMatch DOID:0050589 inflammatory bowel disease semapv:UnspecifiedMatching MONDO:0005265 inflammatory bowel disease skos:exactMatch EFO:0003767 semapv:UnspecifiedMatching MONDO:0005265 inflammatory bowel disease skos:exactMatch MEDGEN:43877 semapv:UnspecifiedMatching MONDO:0005265 inflammatory bowel disease skos:exactMatch NCIT:C3138 Inflammatory Bowel Disease semapv:UnspecifiedMatching MONDO:0005265 inflammatory bowel disease skos:exactMatch OMIMPS:266600 Inflammatory bowel disease semapv:UnspecifiedMatching MONDO:0005265 inflammatory bowel disease skos:exactMatch SCTID:24526004 semapv:UnspecifiedMatching MONDO:0005265 inflammatory bowel disease skos:exactMatch UMLS:C0021390 semapv:UnspecifiedMatching MONDO:0005265 inflammatory bowel disease skos:exactMatch mesh:D015212 semapv:UnspecifiedMatching MONDO:0005266 diabetic retinopathy skos:exactMatch DOID:8947 diabetic retinopathy semapv:UnspecifiedMatching MONDO:0005266 diabetic retinopathy skos:exactMatch EFO:0003770 semapv:UnspecifiedMatching MONDO:0005266 diabetic retinopathy skos:exactMatch MEDGEN:3786 semapv:UnspecifiedMatching MONDO:0005266 diabetic retinopathy skos:exactMatch NCIT:C34538 Diabetic Retinopathy semapv:UnspecifiedMatching MONDO:0005266 diabetic retinopathy skos:exactMatch SCTID:4855003 semapv:UnspecifiedMatching MONDO:0005266 diabetic retinopathy skos:exactMatch UMLS:C0011884 semapv:UnspecifiedMatching MONDO:0005266 diabetic retinopathy skos:exactMatch icd11.foundation:1006882070 Diabetic retinopathy semapv:UnspecifiedMatching MONDO:0005266 diabetic retinopathy skos:exactMatch mesh:D003930 semapv:UnspecifiedMatching MONDO:0005267 heart disorder skos:exactMatch DOID:114 heart disease semapv:UnspecifiedMatching MONDO:0005267 heart disorder skos:exactMatch EFO:0003777 semapv:UnspecifiedMatching MONDO:0005267 heart disorder skos:exactMatch MEDGEN:5458 semapv:UnspecifiedMatching MONDO:0005267 heart disorder skos:exactMatch NCIT:C3079 Heart Disorder semapv:UnspecifiedMatching MONDO:0005267 heart disorder skos:exactMatch SCTID:56265001 semapv:UnspecifiedMatching MONDO:0005267 heart disorder skos:exactMatch UMLS:C0018799 semapv:UnspecifiedMatching MONDO:0005267 heart disorder skos:exactMatch icd11.foundation:1512587470 Certain specified forms of heart disease semapv:UnspecifiedMatching MONDO:0005267 heart disorder skos:exactMatch mesh:D006331 semapv:UnspecifiedMatching MONDO:0005269 carotid artery disorder skos:exactMatch DOID:3407 carotid artery disease semapv:UnspecifiedMatching MONDO:0005269 carotid artery disorder skos:exactMatch EFO:0003781 semapv:UnspecifiedMatching MONDO:0005269 carotid artery disorder skos:exactMatch MEDGEN:2892 semapv:UnspecifiedMatching MONDO:0005269 carotid artery disorder skos:exactMatch NCIT:C84476 Carotid Artery Disorder semapv:UnspecifiedMatching MONDO:0005269 carotid artery disorder skos:exactMatch SCTID:371160000 semapv:UnspecifiedMatching MONDO:0005269 carotid artery disorder skos:exactMatch UMLS:C0007273 semapv:UnspecifiedMatching MONDO:0005269 carotid artery disorder skos:exactMatch mesh:D002340 semapv:UnspecifiedMatching MONDO:0005271 allergic disease skos:exactMatch DOID:1205 allergic disease semapv:UnspecifiedMatching MONDO:0005271 allergic disease skos:exactMatch MEDGEN:9370 semapv:UnspecifiedMatching MONDO:0005271 allergic disease skos:exactMatch NCIT:C114476 Allergic Reaction semapv:UnspecifiedMatching MONDO:0005271 allergic disease skos:exactMatch SCTID:609328004 semapv:UnspecifiedMatching MONDO:0005271 allergic disease skos:exactMatch UMLS:C0020517 semapv:UnspecifiedMatching MONDO:0005271 allergic disease skos:exactMatch mesh:D006967 semapv:UnspecifiedMatching MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia skos:exactMatch EFO:0003802 semapv:UnspecifiedMatching MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia skos:exactMatch MEDGEN:415300 semapv:UnspecifiedMatching MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia skos:exactMatch NCIT:C2872 Refractory Anemia semapv:UnspecifiedMatching MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia skos:exactMatch NCIT:C82591 Myelodysplastic Syndrome, Not Otherwise Specified with Single Lineage Dysplasia semapv:UnspecifiedMatching MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia skos:exactMatch Orphanet:98826 Myelodysplastic neoplasm with low blasts semapv:UnspecifiedMatching MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia skos:exactMatch SCTID:1153345005 semapv:UnspecifiedMatching MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia skos:exactMatch UMLS:C2826318 semapv:UnspecifiedMatching MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia skos:exactMatch icd11.foundation:149518956 Refractory anaemia semapv:UnspecifiedMatching MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia skos:exactMatch mesh:D000753 semapv:UnspecifiedMatching MONDO:0005275 lung disorder skos:exactMatch DOID:850 lung disease semapv:UnspecifiedMatching MONDO:0005275 lung disorder skos:exactMatch EFO:0003818 semapv:UnspecifiedMatching MONDO:0005275 lung disorder skos:exactMatch MEDGEN:7399 semapv:UnspecifiedMatching MONDO:0005275 lung disorder skos:exactMatch NCIT:C3198 Lung Disorder semapv:UnspecifiedMatching MONDO:0005275 lung disorder skos:exactMatch SCTID:19829001 semapv:UnspecifiedMatching MONDO:0005275 lung disorder skos:exactMatch UMLS:C0024115 semapv:UnspecifiedMatching MONDO:0005275 lung disorder skos:exactMatch mesh:D008171 semapv:UnspecifiedMatching MONDO:0005276 dental caries skos:exactMatch DOID:216 dental caries semapv:UnspecifiedMatching MONDO:0005276 dental caries skos:exactMatch EFO:0003819 semapv:UnspecifiedMatching MONDO:0005276 dental caries skos:exactMatch ICD10CM:K02 Dental caries semapv:UnspecifiedMatching MONDO:0005276 dental caries skos:exactMatch ICD10WHO:K02 Dental caries semapv:UnspecifiedMatching MONDO:0005276 dental caries skos:exactMatch MEDGEN:8288 semapv:UnspecifiedMatching MONDO:0005276 dental caries skos:exactMatch SCTID:80967001 semapv:UnspecifiedMatching MONDO:0005276 dental caries skos:exactMatch UMLS:C0011334 semapv:UnspecifiedMatching MONDO:0005276 dental caries skos:exactMatch icd11.foundation:1983306720 Dental caries semapv:UnspecifiedMatching MONDO:0005276 dental caries skos:exactMatch mesh:D003731 semapv:UnspecifiedMatching MONDO:0005277 migraine disorder skos:exactMatch DOID:6364 migraine semapv:UnspecifiedMatching MONDO:0005277 migraine disorder skos:exactMatch ICD10CM:G43 Migraine semapv:UnspecifiedMatching MONDO:0005277 migraine disorder skos:exactMatch MEDGEN:57451 semapv:UnspecifiedMatching MONDO:0005277 migraine disorder skos:exactMatch NCIT:C89715 Migraine semapv:UnspecifiedMatching MONDO:0005277 migraine disorder skos:exactMatch UMLS:C0149931 semapv:UnspecifiedMatching MONDO:0005277 migraine disorder skos:exactMatch icd11.foundation:669367341 Migraine semapv:UnspecifiedMatching MONDO:0005277 migraine disorder skos:exactMatch mesh:D008881 semapv:UnspecifiedMatching MONDO:0005278 serous adenocarcinoma skos:exactMatch DOID:3114 serous cystadenocarcinoma semapv:UnspecifiedMatching MONDO:0005278 serous adenocarcinoma skos:exactMatch EFO:0003825 semapv:UnspecifiedMatching MONDO:0005278 serous adenocarcinoma skos:exactMatch NCIT:C40101 Serous Adenocarcinoma semapv:UnspecifiedMatching MONDO:0005279 pulmonary embolism skos:exactMatch DOID:9477 pulmonary embolism semapv:UnspecifiedMatching MONDO:0005279 pulmonary embolism skos:exactMatch EFO:0003827 semapv:UnspecifiedMatching MONDO:0005279 pulmonary embolism skos:exactMatch ICD10CM:I26 Pulmonary embolism semapv:UnspecifiedMatching MONDO:0005279 pulmonary embolism skos:exactMatch ICD10WHO:I26 Pulmonary embolism semapv:UnspecifiedMatching MONDO:0005279 pulmonary embolism skos:exactMatch MEDGEN:11027 semapv:UnspecifiedMatching MONDO:0005279 pulmonary embolism skos:exactMatch NCIT:C50713 Pulmonary Embolism semapv:UnspecifiedMatching MONDO:0005279 pulmonary embolism skos:exactMatch SCTID:59282003 semapv:UnspecifiedMatching MONDO:0005279 pulmonary embolism skos:exactMatch UMLS:C0034065 semapv:UnspecifiedMatching MONDO:0005279 pulmonary embolism skos:exactMatch icd11.foundation:1014964218 Pulmonary thromboembolism semapv:UnspecifiedMatching MONDO:0005279 pulmonary embolism skos:exactMatch mesh:D011655 semapv:UnspecifiedMatching MONDO:0005280 prostatitis skos:exactMatch DOID:14654 prostatitis semapv:UnspecifiedMatching MONDO:0005280 prostatitis skos:exactMatch EFO:0003830 semapv:UnspecifiedMatching MONDO:0005280 prostatitis skos:exactMatch MEDGEN:10965 semapv:UnspecifiedMatching MONDO:0005280 prostatitis skos:exactMatch NCIT:C26866 Prostatitis semapv:UnspecifiedMatching MONDO:0005280 prostatitis skos:exactMatch SCTID:9713002 semapv:UnspecifiedMatching MONDO:0005280 prostatitis skos:exactMatch UMLS:C0033581 semapv:UnspecifiedMatching MONDO:0005280 prostatitis skos:exactMatch mesh:D011472 semapv:UnspecifiedMatching MONDO:0005281 gallbladder disorder skos:exactMatch DOID:0060262 gallbladder disease semapv:UnspecifiedMatching MONDO:0005281 gallbladder disorder skos:exactMatch EFO:0003832 semapv:UnspecifiedMatching MONDO:0005281 gallbladder disorder skos:exactMatch ICD10CM:K82 Other diseases of gallbladder semapv:UnspecifiedMatching MONDO:0005281 gallbladder disorder skos:exactMatch MEDGEN:8947 semapv:UnspecifiedMatching MONDO:0005281 gallbladder disorder skos:exactMatch NCIT:C34631 Gallbladder Disorder semapv:UnspecifiedMatching MONDO:0005281 gallbladder disorder skos:exactMatch SCTID:39621005 semapv:UnspecifiedMatching MONDO:0005281 gallbladder disorder skos:exactMatch UMLS:C0016977 semapv:UnspecifiedMatching MONDO:0005281 gallbladder disorder skos:exactMatch mesh:D005705 semapv:UnspecifiedMatching MONDO:0005282 cutaneous lupus erythematosus skos:exactMatch DOID:0050169 cutaneous lupus erythematosus semapv:UnspecifiedMatching MONDO:0005282 cutaneous lupus erythematosus skos:exactMatch EFO:0003834 semapv:UnspecifiedMatching MONDO:0005282 cutaneous lupus erythematosus skos:exactMatch MEDGEN:7401 semapv:UnspecifiedMatching MONDO:0005282 cutaneous lupus erythematosus skos:exactMatch NCIT:C26819 Cutaneous Lupus Erythematosus semapv:UnspecifiedMatching MONDO:0005282 cutaneous lupus erythematosus skos:exactMatch SCTID:7119001 semapv:UnspecifiedMatching MONDO:0005282 cutaneous lupus erythematosus skos:exactMatch UMLS:C0024137 semapv:UnspecifiedMatching MONDO:0005282 cutaneous lupus erythematosus skos:exactMatch icd11.foundation:1401395930 Cutaneous lupus erythematosus semapv:UnspecifiedMatching MONDO:0005282 cutaneous lupus erythematosus skos:exactMatch mesh:D008178 semapv:UnspecifiedMatching MONDO:0005283 retinal disorder skos:exactMatch DOID:5679 retinal disease semapv:UnspecifiedMatching MONDO:0005283 retinal disorder skos:exactMatch EFO:0003839 semapv:UnspecifiedMatching MONDO:0005283 retinal disorder skos:exactMatch MEDGEN:11209 semapv:UnspecifiedMatching MONDO:0005283 retinal disorder skos:exactMatch NCIT:C26875 Retinal Disorder semapv:UnspecifiedMatching MONDO:0005283 retinal disorder skos:exactMatch NCIT:C62601 Retinopathy semapv:UnspecifiedMatching MONDO:0005283 retinal disorder skos:exactMatch SCTID:29555009 semapv:UnspecifiedMatching MONDO:0005283 retinal disorder skos:exactMatch UMLS:C0035309 semapv:UnspecifiedMatching MONDO:0005283 retinal disorder skos:exactMatch mesh:D012164 semapv:UnspecifiedMatching MONDO:0005284 chronic progressive multiple sclerosis skos:exactMatch EFO:0003840 semapv:UnspecifiedMatching MONDO:0005284 chronic progressive multiple sclerosis skos:exactMatch MEDGEN:140733 semapv:UnspecifiedMatching MONDO:0005284 chronic progressive multiple sclerosis skos:exactMatch SCTID:230373008 semapv:UnspecifiedMatching MONDO:0005284 chronic progressive multiple sclerosis skos:exactMatch UMLS:C0393665 semapv:UnspecifiedMatching MONDO:0005284 chronic progressive multiple sclerosis skos:exactMatch mesh:D020528 semapv:UnspecifiedMatching MONDO:0005286 palatal neoplasm skos:exactMatch EFO:0003849 semapv:UnspecifiedMatching MONDO:0005286 palatal neoplasm skos:exactMatch MEDGEN:14576 semapv:UnspecifiedMatching MONDO:0005286 palatal neoplasm skos:exactMatch NCIT:C4402 Palate Neoplasm semapv:UnspecifiedMatching MONDO:0005286 palatal neoplasm skos:exactMatch SCTID:126805009 semapv:UnspecifiedMatching MONDO:0005286 palatal neoplasm skos:exactMatch UMLS:C0030215 semapv:UnspecifiedMatching MONDO:0005286 palatal neoplasm skos:exactMatch mesh:D010157 semapv:UnspecifiedMatching MONDO:0005287 developmental disability skos:exactMatch EFO:0003852 semapv:UnspecifiedMatching MONDO:0005287 developmental disability skos:exactMatch mesh:D002658 semapv:UnspecifiedMatching MONDO:0005288 intestinal polyp skos:exactMatch EFO:0003855 semapv:UnspecifiedMatching MONDO:0005288 intestinal polyp skos:exactMatch MEDGEN:9526 semapv:UnspecifiedMatching MONDO:0005288 intestinal polyp skos:exactMatch SCTID:254588001 semapv:UnspecifiedMatching MONDO:0005288 intestinal polyp skos:exactMatch UMLS:C0021846 semapv:UnspecifiedMatching MONDO:0005288 intestinal polyp skos:exactMatch mesh:D007417 semapv:UnspecifiedMatching MONDO:0005289 paranasal sinus neoplasm skos:exactMatch DOID:1350 paranasal sinus benign neoplasm semapv:UnspecifiedMatching MONDO:0005289 paranasal sinus neoplasm skos:exactMatch EFO:0003866 semapv:UnspecifiedMatching MONDO:0005289 paranasal sinus neoplasm skos:exactMatch MEDGEN:18296 semapv:UnspecifiedMatching MONDO:0005289 paranasal sinus neoplasm skos:exactMatch NCIT:C7488 Paranasal Sinus Neoplasm semapv:UnspecifiedMatching MONDO:0005289 paranasal sinus neoplasm skos:exactMatch SCTID:126675008 semapv:UnspecifiedMatching MONDO:0005289 paranasal sinus neoplasm skos:exactMatch UMLS:C0030470 semapv:UnspecifiedMatching MONDO:0005290 obsolete rhabdomyolysis skos:exactMatch NCIT:C118318 Rhabdomyolysis semapv:UnspecifiedMatching MONDO:0005290 obsolete rhabdomyolysis skos:exactMatch SCTID:240131006 semapv:UnspecifiedMatching MONDO:0005290 obsolete rhabdomyolysis skos:exactMatch mesh:D012206 semapv:UnspecifiedMatching MONDO:0005291 brain aneurysm skos:exactMatch DOID:10941 intracranial aneurysm semapv:UnspecifiedMatching MONDO:0005291 brain aneurysm skos:exactMatch EFO:0003870 semapv:UnspecifiedMatching MONDO:0005291 brain aneurysm skos:exactMatch MEDGEN:196706 semapv:UnspecifiedMatching MONDO:0005291 brain aneurysm skos:exactMatch UMLS:C0751003 semapv:UnspecifiedMatching MONDO:0005291 brain aneurysm skos:exactMatch mesh:D002532 semapv:UnspecifiedMatching MONDO:0005292 colitis skos:exactMatch DOID:0060180 colitis semapv:UnspecifiedMatching MONDO:0005292 colitis skos:exactMatch EFO:0003872 semapv:UnspecifiedMatching MONDO:0005292 colitis skos:exactMatch MEDGEN:40385 semapv:UnspecifiedMatching MONDO:0005292 colitis skos:exactMatch NCIT:C26723 Colitis semapv:UnspecifiedMatching MONDO:0005292 colitis skos:exactMatch SCTID:64226004 semapv:UnspecifiedMatching MONDO:0005292 colitis skos:exactMatch UMLS:C0009319 semapv:UnspecifiedMatching MONDO:0005292 colitis skos:exactMatch icd11.foundation:1870792958 Colon inflammation semapv:UnspecifiedMatching MONDO:0005292 colitis skos:exactMatch mesh:D003092 semapv:UnspecifiedMatching MONDO:0005293 flatfoot skos:exactMatch EFO:0003874 semapv:UnspecifiedMatching MONDO:0005293 flatfoot skos:exactMatch MEDGEN:42034 semapv:UnspecifiedMatching MONDO:0005293 flatfoot skos:exactMatch NCIT:C34616 Flat Foot semapv:UnspecifiedMatching MONDO:0005293 flatfoot skos:exactMatch SCTID:53226007 semapv:UnspecifiedMatching MONDO:0005293 flatfoot skos:exactMatch UMLS:C0016202 semapv:UnspecifiedMatching MONDO:0005293 flatfoot skos:exactMatch mesh:D005413 semapv:UnspecifiedMatching MONDO:0005294 peripheral vascular disease skos:broadMatch icd11.foundation:426429380 Diseases of the circulatory system semapv:UnspecifiedMatching MONDO:0005294 peripheral vascular disease skos:exactMatch DOID:341 peripheral vascular disease semapv:UnspecifiedMatching MONDO:0005294 peripheral vascular disease skos:exactMatch EFO:0003875 semapv:UnspecifiedMatching MONDO:0005294 peripheral vascular disease skos:exactMatch MEDGEN:38790 semapv:UnspecifiedMatching MONDO:0005294 peripheral vascular disease skos:exactMatch NCIT:C35136 Peripheral Vascular Disorder semapv:UnspecifiedMatching MONDO:0005294 peripheral vascular disease skos:exactMatch UMLS:C0085096 semapv:UnspecifiedMatching MONDO:0005294 peripheral vascular disease skos:exactMatch mesh:D016491 semapv:UnspecifiedMatching MONDO:0005295 intermittent vascular claudication skos:exactMatch DOID:3669 intermittent claudication semapv:UnspecifiedMatching MONDO:0005295 intermittent vascular claudication skos:exactMatch EFO:0003876 semapv:UnspecifiedMatching MONDO:0005295 intermittent vascular claudication skos:exactMatch MEDGEN:7115 semapv:UnspecifiedMatching MONDO:0005295 intermittent vascular claudication skos:exactMatch SCTID:63491006 semapv:UnspecifiedMatching MONDO:0005295 intermittent vascular claudication skos:exactMatch UMLS:C0021775 semapv:UnspecifiedMatching MONDO:0005295 intermittent vascular claudication skos:exactMatch mesh:D007383 semapv:UnspecifiedMatching MONDO:0005296 sleep apnea syndrome skos:exactMatch DOID:0050847 sleep apnea semapv:UnspecifiedMatching MONDO:0005296 sleep apnea syndrome skos:exactMatch EFO:0003877 semapv:UnspecifiedMatching MONDO:0005296 sleep apnea syndrome skos:exactMatch ICD10CM:G47.3 Sleep apnea semapv:UnspecifiedMatching MONDO:0005296 sleep apnea syndrome skos:exactMatch MEDGEN:11458 semapv:UnspecifiedMatching MONDO:0005296 sleep apnea syndrome skos:exactMatch NCIT:C148023 Sleep-Disordered Breathing semapv:UnspecifiedMatching MONDO:0005296 sleep apnea syndrome skos:exactMatch SCTID:111489007 semapv:UnspecifiedMatching MONDO:0005296 sleep apnea syndrome skos:exactMatch SCTID:73430006 semapv:UnspecifiedMatching MONDO:0005296 sleep apnea syndrome skos:exactMatch UMLS:C0037315 semapv:UnspecifiedMatching MONDO:0005296 sleep apnea syndrome skos:exactMatch mesh:D012891 semapv:UnspecifiedMatching MONDO:0005297 urethritis skos:exactMatch DOID:1343 urethritis semapv:UnspecifiedMatching MONDO:0005297 urethritis skos:exactMatch EFO:0003878 semapv:UnspecifiedMatching MONDO:0005297 urethritis skos:exactMatch MEDGEN:52934 semapv:UnspecifiedMatching MONDO:0005297 urethritis skos:exactMatch NCIT:C26904 Urethritis semapv:UnspecifiedMatching MONDO:0005297 urethritis skos:exactMatch SCTID:84619001 semapv:UnspecifiedMatching MONDO:0005297 urethritis skos:exactMatch UMLS:C0041976 semapv:UnspecifiedMatching MONDO:0005297 urethritis skos:exactMatch mesh:D014526 semapv:UnspecifiedMatching MONDO:0005298 osteoporosis skos:exactMatch DOID:11476 osteoporosis semapv:UnspecifiedMatching MONDO:0005298 osteoporosis skos:exactMatch EFO:0003882 semapv:UnspecifiedMatching MONDO:0005298 osteoporosis skos:exactMatch ICD10CM:M81 Osteoporosis without current pathological fracture semapv:UnspecifiedMatching MONDO:0005298 osteoporosis skos:exactMatch MEDGEN:14535 semapv:UnspecifiedMatching MONDO:0005298 osteoporosis skos:exactMatch NCIT:C3298 Osteoporosis semapv:UnspecifiedMatching MONDO:0005298 osteoporosis skos:exactMatch OMIM:166710 osteoporosis semapv:UnspecifiedMatching MONDO:0005298 osteoporosis skos:exactMatch SCTID:64859006 semapv:UnspecifiedMatching MONDO:0005298 osteoporosis skos:exactMatch UMLS:C0029456 semapv:UnspecifiedMatching MONDO:0005298 osteoporosis skos:exactMatch icd11.foundation:2113001430 Osteoporosis semapv:UnspecifiedMatching MONDO:0005298 osteoporosis skos:exactMatch mesh:D010024 semapv:UnspecifiedMatching MONDO:0005299 brain ischemia skos:exactMatch DOID:2316 brain ischemia semapv:UnspecifiedMatching MONDO:0005299 brain ischemia skos:exactMatch MEDGEN:182975 semapv:UnspecifiedMatching MONDO:0005299 brain ischemia skos:exactMatch NCIT:C78394 Cerebrovascular Ischemia semapv:UnspecifiedMatching MONDO:0005299 brain ischemia skos:exactMatch SCTID:389100007 semapv:UnspecifiedMatching MONDO:0005299 brain ischemia skos:exactMatch UMLS:C0917798 semapv:UnspecifiedMatching MONDO:0005299 brain ischemia skos:exactMatch mesh:D002545 semapv:UnspecifiedMatching MONDO:0005300 chronic kidney disease skos:exactMatch DOID:784 chronic kidney disease semapv:UnspecifiedMatching MONDO:0005300 chronic kidney disease skos:exactMatch EFO:0003884 semapv:UnspecifiedMatching MONDO:0005300 chronic kidney disease skos:exactMatch ICD10CM:N18 Chronic kidney disease (CKD) semapv:UnspecifiedMatching MONDO:0005300 chronic kidney disease skos:exactMatch ICD10CM:N18.9 Chronic kidney disease, unspecified semapv:UnspecifiedMatching MONDO:0005300 chronic kidney disease skos:exactMatch ICD10WHO:N18 Chronic kidney disease semapv:UnspecifiedMatching MONDO:0005300 chronic kidney disease skos:exactMatch MEDGEN:473458 semapv:UnspecifiedMatching MONDO:0005300 chronic kidney disease skos:exactMatch NCIT:C80078 Chronic Kidney Disease semapv:UnspecifiedMatching MONDO:0005300 chronic kidney disease skos:exactMatch SCTID:709044004 semapv:UnspecifiedMatching MONDO:0005300 chronic kidney disease skos:exactMatch UMLS:C1561643 semapv:UnspecifiedMatching MONDO:0005300 chronic kidney disease skos:exactMatch icd11.foundation:412389819 Chronic kidney disease semapv:UnspecifiedMatching MONDO:0005300 chronic kidney disease skos:exactMatch mesh:D007676 semapv:UnspecifiedMatching MONDO:0005301 multiple sclerosis skos:exactMatch DOID:2377 multiple sclerosis semapv:UnspecifiedMatching MONDO:0005301 multiple sclerosis skos:exactMatch ICD10CM:G35 Multiple sclerosis semapv:UnspecifiedMatching MONDO:0005301 multiple sclerosis skos:exactMatch ICD10WHO:G35 Multiple sclerosis semapv:UnspecifiedMatching MONDO:0005301 multiple sclerosis skos:exactMatch MEDGEN:10123 semapv:UnspecifiedMatching MONDO:0005301 multiple sclerosis skos:exactMatch NCIT:C3243 Multiple Sclerosis semapv:UnspecifiedMatching MONDO:0005301 multiple sclerosis skos:exactMatch SCTID:24700007 semapv:UnspecifiedMatching MONDO:0005301 multiple sclerosis skos:exactMatch UMLS:C0026769 semapv:UnspecifiedMatching MONDO:0005301 multiple sclerosis skos:exactMatch icd11.foundation:1298865187 Multiple sclerosis semapv:UnspecifiedMatching MONDO:0005301 multiple sclerosis skos:exactMatch mesh:D009103 semapv:UnspecifiedMatching MONDO:0005302 attention deficit hyperactivity disorder, inattentive type skos:exactMatch DOID:1094 attention deficit hyperactivity disorder semapv:UnspecifiedMatching MONDO:0005302 attention deficit hyperactivity disorder, inattentive type skos:exactMatch MEDGEN:473060 semapv:UnspecifiedMatching MONDO:0005302 attention deficit hyperactivity disorder, inattentive type skos:exactMatch NCIT:C35092 Attention Deficit Hyperactivity Disorder, Inattentive Type semapv:UnspecifiedMatching MONDO:0005302 attention deficit hyperactivity disorder, inattentive type skos:exactMatch SCTID:406506008 semapv:UnspecifiedMatching MONDO:0005302 attention deficit hyperactivity disorder, inattentive type skos:exactMatch UMLS:C0339002 semapv:UnspecifiedMatching MONDO:0005302 attention deficit hyperactivity disorder, inattentive type skos:exactMatch mesh:D001289 semapv:UnspecifiedMatching MONDO:0005303 drug dependence skos:exactMatch DOID:9974 drug dependence semapv:UnspecifiedMatching MONDO:0005303 drug dependence skos:exactMatch EFO:0003890 semapv:UnspecifiedMatching MONDO:0005303 drug dependence skos:exactMatch MEDGEN:307144 semapv:UnspecifiedMatching MONDO:0005303 drug dependence skos:exactMatch NCIT:C3894 Drug Dependence semapv:UnspecifiedMatching MONDO:0005303 drug dependence skos:exactMatch SCTID:191816009 semapv:UnspecifiedMatching MONDO:0005303 drug dependence skos:exactMatch UMLS:C1510472 semapv:UnspecifiedMatching MONDO:0005304 biliary tract neoplasm skos:exactMatch DOID:0050625 biliary tract benign neoplasm semapv:UnspecifiedMatching MONDO:0005304 biliary tract neoplasm skos:exactMatch EFO:0003891 semapv:UnspecifiedMatching MONDO:0005304 biliary tract neoplasm skos:exactMatch MEDGEN:14118 semapv:UnspecifiedMatching MONDO:0005304 biliary tract neoplasm skos:exactMatch SCTID:126853008 semapv:UnspecifiedMatching MONDO:0005304 biliary tract neoplasm skos:exactMatch UMLS:C0005426 semapv:UnspecifiedMatching MONDO:0005306 ankylosing spondylitis skos:exactMatch DOID:7147 ankylosing spondylitis semapv:UnspecifiedMatching MONDO:0005306 ankylosing spondylitis skos:exactMatch EFO:0003898 semapv:UnspecifiedMatching MONDO:0005306 ankylosing spondylitis skos:exactMatch ICD10CM:M45 Ankylosing spondylitis semapv:UnspecifiedMatching MONDO:0005306 ankylosing spondylitis skos:exactMatch ICD10WHO:M45 Ankylosing spondylitis semapv:UnspecifiedMatching MONDO:0005306 ankylosing spondylitis skos:exactMatch MEDGEN:11561 semapv:UnspecifiedMatching MONDO:0005306 ankylosing spondylitis skos:exactMatch NCIT:C84564 Ankylosing Spondylitis semapv:UnspecifiedMatching MONDO:0005306 ankylosing spondylitis skos:exactMatch SCTID:9631008 semapv:UnspecifiedMatching MONDO:0005306 ankylosing spondylitis skos:exactMatch UMLS:C0038013 semapv:UnspecifiedMatching MONDO:0005306 ankylosing spondylitis skos:exactMatch mesh:D013167 semapv:UnspecifiedMatching MONDO:0005307 obsolete contracture skos:exactMatch mesh:D003286 semapv:UnspecifiedMatching MONDO:0005308 ciliopathy skos:exactMatch DOID:0060340 ciliopathy semapv:UnspecifiedMatching MONDO:0005308 ciliopathy skos:exactMatch EFO:0003900 semapv:UnspecifiedMatching MONDO:0005308 ciliopathy skos:exactMatch MEDGEN:908923 semapv:UnspecifiedMatching MONDO:0005308 ciliopathy skos:exactMatch Orphanet:363250 Ciliopathy semapv:UnspecifiedMatching MONDO:0005308 ciliopathy skos:exactMatch UMLS:C4277690 semapv:UnspecifiedMatching MONDO:0005309 spinal fracture skos:exactMatch EFO:0003902 semapv:UnspecifiedMatching MONDO:0005309 spinal fracture skos:exactMatch SCTID:50448004 semapv:UnspecifiedMatching MONDO:0005309 spinal fracture skos:exactMatch mesh:D016103 semapv:UnspecifiedMatching MONDO:0005310 atrial flutter skos:exactMatch EFO:0003911 semapv:UnspecifiedMatching MONDO:0005310 atrial flutter skos:exactMatch MEDGEN:13955 semapv:UnspecifiedMatching MONDO:0005310 atrial flutter skos:exactMatch NCIT:C51224 Atrial Flutter semapv:UnspecifiedMatching MONDO:0005310 atrial flutter skos:exactMatch SCTID:5370000 semapv:UnspecifiedMatching MONDO:0005310 atrial flutter skos:exactMatch UMLS:C0004239 semapv:UnspecifiedMatching MONDO:0005310 atrial flutter skos:exactMatch mesh:D001282 semapv:UnspecifiedMatching MONDO:0005311 atherosclerosis skos:exactMatch DOID:1936 atherosclerosis semapv:UnspecifiedMatching MONDO:0005311 atherosclerosis skos:exactMatch EFO:0003914 semapv:UnspecifiedMatching MONDO:0005311 atherosclerosis skos:exactMatch ICD10CM:I70 Atherosclerosis semapv:UnspecifiedMatching MONDO:0005311 atherosclerosis skos:exactMatch ICD10WHO:I70 Atherosclerosis semapv:UnspecifiedMatching MONDO:0005311 atherosclerosis skos:exactMatch MEDGEN:13948 semapv:UnspecifiedMatching MONDO:0005311 atherosclerosis skos:exactMatch NCIT:C35768 Atherosclerosis semapv:UnspecifiedMatching MONDO:0005311 atherosclerosis skos:exactMatch SCTID:441574008 semapv:UnspecifiedMatching MONDO:0005311 atherosclerosis skos:exactMatch UMLS:C0004153 semapv:UnspecifiedMatching MONDO:0005311 atherosclerosis skos:exactMatch icd11.foundation:109367356 Atherosclerotic chronic arterial occlusive disease semapv:UnspecifiedMatching MONDO:0005311 atherosclerosis skos:exactMatch mesh:D050197 semapv:UnspecifiedMatching MONDO:0005312 pouchitis skos:exactMatch EFO:0003921 semapv:UnspecifiedMatching MONDO:0005312 pouchitis skos:exactMatch ICD10CM:K91.850 Pouchitis semapv:UnspecifiedMatching MONDO:0005312 pouchitis skos:exactMatch MEDGEN:138232 semapv:UnspecifiedMatching MONDO:0005312 pouchitis skos:exactMatch Orphanet:217067 Pouchitis semapv:UnspecifiedMatching MONDO:0005312 pouchitis skos:exactMatch UMLS:C0376620 semapv:UnspecifiedMatching MONDO:0005312 pouchitis skos:exactMatch mesh:D019449 semapv:UnspecifiedMatching MONDO:0005313 necrotizing enterocolitis skos:exactMatch EFO:0003928 semapv:UnspecifiedMatching MONDO:0005313 necrotizing enterocolitis skos:exactMatch ICD10CM:K55.3 Necrotizing enterocolitis semapv:UnspecifiedMatching MONDO:0005313 necrotizing enterocolitis skos:exactMatch MEDGEN:105440 semapv:UnspecifiedMatching MONDO:0005313 necrotizing enterocolitis skos:exactMatch NCIT:C84915 Necrotizing Enterocolitis semapv:UnspecifiedMatching MONDO:0005313 necrotizing enterocolitis skos:exactMatch Orphanet:391673 Necrotizing enterocolitis semapv:UnspecifiedMatching MONDO:0005313 necrotizing enterocolitis skos:exactMatch SCTID:2707005 semapv:UnspecifiedMatching MONDO:0005313 necrotizing enterocolitis skos:exactMatch UMLS:C0520459 semapv:UnspecifiedMatching MONDO:0005313 necrotizing enterocolitis skos:exactMatch icd11.foundation:141267925 Necrotising enterocolitis of newborn semapv:UnspecifiedMatching MONDO:0005313 necrotizing enterocolitis skos:exactMatch mesh:D020345 semapv:UnspecifiedMatching MONDO:0005314 relapsing-remitting multiple sclerosis skos:exactMatch DOID:2378 relapsing-remitting multiple sclerosis semapv:UnspecifiedMatching MONDO:0005314 relapsing-remitting multiple sclerosis skos:exactMatch EFO:0003929 semapv:UnspecifiedMatching MONDO:0005314 relapsing-remitting multiple sclerosis skos:exactMatch MEDGEN:155669 semapv:UnspecifiedMatching MONDO:0005314 relapsing-remitting multiple sclerosis skos:exactMatch NCIT:C165675 Relapsing-Remitting Multiple Sclerosis semapv:UnspecifiedMatching MONDO:0005314 relapsing-remitting multiple sclerosis skos:exactMatch SCTID:426373005 semapv:UnspecifiedMatching MONDO:0005314 relapsing-remitting multiple sclerosis skos:exactMatch UMLS:C0751967 semapv:UnspecifiedMatching MONDO:0005314 relapsing-remitting multiple sclerosis skos:exactMatch icd11.foundation:799053936 Relapsing-remitting multiple sclerosis semapv:UnspecifiedMatching MONDO:0005314 relapsing-remitting multiple sclerosis skos:exactMatch mesh:D020529 semapv:UnspecifiedMatching MONDO:0005315 bone fracture skos:exactMatch EFO:0003931 semapv:UnspecifiedMatching MONDO:0005315 bone fracture skos:exactMatch NCIT:C3046 Fracture semapv:UnspecifiedMatching MONDO:0005315 bone fracture skos:exactMatch SCTID:125605004 semapv:UnspecifiedMatching MONDO:0005315 bone fracture skos:exactMatch mesh:D050723 semapv:UnspecifiedMatching MONDO:0005316 bacterial vaginosis skos:exactMatch DOID:3385 bacterial vaginosis semapv:UnspecifiedMatching MONDO:0005316 bacterial vaginosis skos:exactMatch EFO:0003932 semapv:UnspecifiedMatching MONDO:0005316 bacterial vaginosis skos:exactMatch MEDGEN:43118 semapv:UnspecifiedMatching MONDO:0005316 bacterial vaginosis skos:exactMatch NCIT:C116973 Bacterial Vaginosis semapv:UnspecifiedMatching MONDO:0005316 bacterial vaginosis skos:exactMatch SCTID:419760006 semapv:UnspecifiedMatching MONDO:0005316 bacterial vaginosis skos:exactMatch UMLS:C0085166 semapv:UnspecifiedMatching MONDO:0005316 bacterial vaginosis skos:exactMatch icd11.foundation:63323819 Bacterial vaginosis semapv:UnspecifiedMatching MONDO:0005316 bacterial vaginosis skos:exactMatch mesh:D016585 semapv:UnspecifiedMatching MONDO:0005318 canker sore skos:exactMatch EFO:0003938 semapv:UnspecifiedMatching MONDO:0005318 canker sore skos:exactMatch MEDGEN:445425 semapv:UnspecifiedMatching MONDO:0005318 canker sore skos:exactMatch NCIT:C62546 Canker Sore semapv:UnspecifiedMatching MONDO:0005318 canker sore skos:exactMatch SCTID:427617000 semapv:UnspecifiedMatching MONDO:0005318 canker sore skos:exactMatch UMLS:C2937365 semapv:UnspecifiedMatching MONDO:0005318 canker sore skos:exactMatch mesh:D013281 semapv:UnspecifiedMatching MONDO:0005319 humerus fracture skos:exactMatch EFO:0003943 semapv:UnspecifiedMatching MONDO:0005319 humerus fracture skos:exactMatch SCTID:66308002 semapv:UnspecifiedMatching MONDO:0005319 humerus fracture skos:exactMatch mesh:D006810 semapv:UnspecifiedMatching MONDO:0005320 tibia fracture skos:exactMatch EFO:0003944 semapv:UnspecifiedMatching MONDO:0005320 tibia fracture skos:exactMatch SCTID:31978002 semapv:UnspecifiedMatching MONDO:0005320 tibia fracture skos:exactMatch mesh:D013978 semapv:UnspecifiedMatching MONDO:0005321 Fuchs' endothelial dystrophy skos:exactMatch DOID:11555 Fuchs' endothelial dystrophy semapv:UnspecifiedMatching MONDO:0005321 Fuchs' endothelial dystrophy skos:exactMatch MEDGEN:4800 semapv:UnspecifiedMatching MONDO:0005321 Fuchs' endothelial dystrophy skos:exactMatch NCIT:C84721 Fuchs Endothelial Dystrophy semapv:UnspecifiedMatching MONDO:0005321 Fuchs' endothelial dystrophy skos:exactMatch OMIMPS:136800 Corneal dystrophy, Fuchs endothelial semapv:UnspecifiedMatching MONDO:0005321 Fuchs' endothelial dystrophy skos:exactMatch Orphanet:98974 Fuchs endothelial corneal dystrophy semapv:UnspecifiedMatching MONDO:0005321 Fuchs' endothelial dystrophy skos:exactMatch SCTID:193839007 semapv:UnspecifiedMatching MONDO:0005321 Fuchs' endothelial dystrophy skos:exactMatch UMLS:C0016781 semapv:UnspecifiedMatching MONDO:0005321 Fuchs' endothelial dystrophy skos:exactMatch mesh:D005642 semapv:UnspecifiedMatching MONDO:0005322 ulna fracture skos:exactMatch EFO:0003950 semapv:UnspecifiedMatching MONDO:0005322 ulna fracture skos:exactMatch SCTID:54556006 semapv:UnspecifiedMatching MONDO:0005322 ulna fracture skos:exactMatch mesh:D014458 semapv:UnspecifiedMatching MONDO:0005323 bacterial sexually transmitted disease skos:exactMatch EFO:0003955 semapv:UnspecifiedMatching MONDO:0005323 bacterial sexually transmitted disease skos:exactMatch MEDGEN:20728 semapv:UnspecifiedMatching MONDO:0005323 bacterial sexually transmitted disease skos:exactMatch UMLS:C0036917 semapv:UnspecifiedMatching MONDO:0005323 bacterial sexually transmitted disease skos:exactMatch mesh:D015231 semapv:UnspecifiedMatching MONDO:0005324 seasonal allergic rhinitis skos:exactMatch EFO:0003956 semapv:UnspecifiedMatching MONDO:0005324 seasonal allergic rhinitis skos:exactMatch MEDGEN:42335 semapv:UnspecifiedMatching MONDO:0005324 seasonal allergic rhinitis skos:exactMatch NCIT:C92188 Seasonal Allergic Rhinitis semapv:UnspecifiedMatching MONDO:0005324 seasonal allergic rhinitis skos:exactMatch SCTID:367498001 semapv:UnspecifiedMatching MONDO:0005324 seasonal allergic rhinitis skos:exactMatch UMLS:C0018621 semapv:UnspecifiedMatching MONDO:0005324 seasonal allergic rhinitis skos:exactMatch mesh:D006255 semapv:UnspecifiedMatching MONDO:0005325 radius fracture skos:exactMatch EFO:0003957 semapv:UnspecifiedMatching MONDO:0005325 radius fracture skos:exactMatch SCTID:12676007 semapv:UnspecifiedMatching MONDO:0005325 radius fracture skos:exactMatch mesh:D011885 semapv:UnspecifiedMatching MONDO:0005326 sunburn skos:exactMatch EFO:0003958 semapv:UnspecifiedMatching MONDO:0005326 sunburn skos:exactMatch ICD10CM:L55 Sunburn semapv:UnspecifiedMatching MONDO:0005326 sunburn skos:exactMatch ICD10WHO:L55 Sunburn semapv:UnspecifiedMatching MONDO:0005326 sunburn skos:exactMatch MEDGEN:1789170 semapv:UnspecifiedMatching MONDO:0005326 sunburn skos:exactMatch SCTID:403194002 semapv:UnspecifiedMatching MONDO:0005326 sunburn skos:exactMatch UMLS:C2136733 semapv:UnspecifiedMatching MONDO:0005326 sunburn skos:exactMatch icd11.foundation:318744822 Sunburn semapv:UnspecifiedMatching MONDO:0005326 sunburn skos:exactMatch mesh:D013471 semapv:UnspecifiedMatching MONDO:0005327 hip fracture skos:exactMatch EFO:0003964 semapv:UnspecifiedMatching MONDO:0005327 hip fracture skos:exactMatch SCTID:263225007 semapv:UnspecifiedMatching MONDO:0005327 hip fracture skos:exactMatch mesh:D006620 semapv:UnspecifiedMatching MONDO:0005328 eye disorder skos:exactMatch DOID:1242 globe disease semapv:UnspecifiedMatching MONDO:0005328 eye disorder skos:exactMatch DOID:5614 eye disease semapv:UnspecifiedMatching MONDO:0005328 eye disorder skos:exactMatch EFO:0003966 semapv:UnspecifiedMatching MONDO:0005328 eye disorder skos:exactMatch MEDGEN:5092 semapv:UnspecifiedMatching MONDO:0005328 eye disorder skos:exactMatch NCIT:C26767 Eye Disorder semapv:UnspecifiedMatching MONDO:0005328 eye disorder skos:exactMatch SCTID:371405004 semapv:UnspecifiedMatching MONDO:0005328 eye disorder skos:exactMatch UMLS:C0015397 semapv:UnspecifiedMatching MONDO:0005328 eye disorder skos:exactMatch mesh:D005128 semapv:UnspecifiedMatching MONDO:0005333 hyperthyroxinemia skos:exactMatch DOID:2855 hyperthyroxinemia semapv:UnspecifiedMatching MONDO:0005333 hyperthyroxinemia skos:exactMatch EFO:0004127 semapv:UnspecifiedMatching MONDO:0005333 hyperthyroxinemia skos:exactMatch MEDGEN:6973 semapv:UnspecifiedMatching MONDO:0005333 hyperthyroxinemia skos:exactMatch UMLS:C0020551 semapv:UnspecifiedMatching MONDO:0005333 hyperthyroxinemia skos:exactMatch mesh:D006981 semapv:UnspecifiedMatching MONDO:0005334 hereditary nephritis skos:exactMatch MEDGEN:10305 semapv:UnspecifiedMatching MONDO:0005334 hereditary nephritis skos:exactMatch SCTID:399340005 semapv:UnspecifiedMatching MONDO:0005334 hereditary nephritis skos:exactMatch UMLS:C0027706 semapv:UnspecifiedMatching MONDO:0005334 hereditary nephritis skos:exactMatch mesh:D009394 semapv:UnspecifiedMatching MONDO:0005335 colorectal neoplasm skos:exactMatch EFO:0004142 semapv:UnspecifiedMatching MONDO:0005335 colorectal neoplasm skos:exactMatch MEDGEN:3171 semapv:UnspecifiedMatching MONDO:0005335 colorectal neoplasm skos:exactMatch NCIT:C2956 Colorectal Neoplasm semapv:UnspecifiedMatching MONDO:0005335 colorectal neoplasm skos:exactMatch UMLS:C0009404 semapv:UnspecifiedMatching MONDO:0005335 colorectal neoplasm skos:exactMatch mesh:D015179 semapv:UnspecifiedMatching MONDO:0005336 myopathy skos:exactMatch DOID:423 myopathy semapv:UnspecifiedMatching MONDO:0005336 myopathy skos:exactMatch EFO:0004145 semapv:UnspecifiedMatching MONDO:0005336 myopathy skos:exactMatch MEDGEN:10135 semapv:UnspecifiedMatching MONDO:0005336 myopathy skos:exactMatch NCIT:C101216 Myopathy semapv:UnspecifiedMatching MONDO:0005336 myopathy skos:exactMatch SCTID:129565002 semapv:UnspecifiedMatching MONDO:0005336 myopathy skos:exactMatch UMLS:C0026848 semapv:UnspecifiedMatching MONDO:0005336 myopathy skos:exactMatch icd11.foundation:1870184184 Myopathy semapv:UnspecifiedMatching MONDO:0005338 open-angle glaucoma skos:exactMatch DOID:1067 open-angle glaucoma semapv:UnspecifiedMatching MONDO:0005338 open-angle glaucoma skos:exactMatch EFO:0004190 semapv:UnspecifiedMatching MONDO:0005338 open-angle glaucoma skos:exactMatch ICD10CM:H40.1 Open-angle glaucoma semapv:UnspecifiedMatching MONDO:0005338 open-angle glaucoma skos:exactMatch MEDGEN:6611 semapv:UnspecifiedMatching MONDO:0005338 open-angle glaucoma skos:exactMatch NCIT:C34641 Open Angle Glaucoma semapv:UnspecifiedMatching MONDO:0005338 open-angle glaucoma skos:exactMatch SCTID:46168003 semapv:UnspecifiedMatching MONDO:0005338 open-angle glaucoma skos:exactMatch SCTID:84494001 semapv:UnspecifiedMatching MONDO:0005338 open-angle glaucoma skos:exactMatch UMLS:C0017612 semapv:UnspecifiedMatching MONDO:0005338 open-angle glaucoma skos:exactMatch mesh:D005902 semapv:UnspecifiedMatching MONDO:0005339 androgenetic alopecia skos:exactMatch DOID:0050801 androgenic alopecia semapv:UnspecifiedMatching MONDO:0005339 androgenetic alopecia skos:exactMatch EFO:0004191 semapv:UnspecifiedMatching MONDO:0005339 androgenetic alopecia skos:exactMatch MEDGEN:56404 semapv:UnspecifiedMatching MONDO:0005339 androgenetic alopecia skos:exactMatch SCTID:87872006 semapv:UnspecifiedMatching MONDO:0005339 androgenetic alopecia skos:exactMatch UMLS:C0162311 semapv:UnspecifiedMatching MONDO:0005340 alopecia areata skos:exactMatch DOID:986 alopecia areata semapv:UnspecifiedMatching MONDO:0005340 alopecia areata skos:exactMatch EFO:0004192 semapv:UnspecifiedMatching MONDO:0005340 alopecia areata skos:exactMatch ICD10CM:L63 Alopecia areata semapv:UnspecifiedMatching MONDO:0005340 alopecia areata skos:exactMatch ICD10WHO:L63 Alopecia areata semapv:UnspecifiedMatching MONDO:0005340 alopecia areata skos:exactMatch MEDGEN:213 semapv:UnspecifiedMatching MONDO:0005340 alopecia areata skos:exactMatch SCTID:68225006 semapv:UnspecifiedMatching MONDO:0005340 alopecia areata skos:exactMatch UMLS:C0002171 semapv:UnspecifiedMatching MONDO:0005340 alopecia areata skos:exactMatch icd11.foundation:65720611 Alopecia areata semapv:UnspecifiedMatching MONDO:0005340 alopecia areata skos:exactMatch mesh:D000506 semapv:UnspecifiedMatching MONDO:0005341 skin basal cell carcinoma skos:exactMatch DOID:2513 basal cell carcinoma semapv:UnspecifiedMatching MONDO:0005341 skin basal cell carcinoma skos:exactMatch MEDGEN:1648304 semapv:UnspecifiedMatching MONDO:0005341 skin basal cell carcinoma skos:exactMatch NCIT:C2921 Skin Basal Cell Carcinoma semapv:UnspecifiedMatching MONDO:0005341 skin basal cell carcinoma skos:exactMatch SCTID:254701007 semapv:UnspecifiedMatching MONDO:0005341 skin basal cell carcinoma skos:exactMatch UMLS:C4721806 semapv:UnspecifiedMatching MONDO:0005342 IgA glomerulonephritis skos:exactMatch DOID:2986 IgA glomerulonephritis semapv:UnspecifiedMatching MONDO:0005342 IgA glomerulonephritis skos:exactMatch EFO:0004194 semapv:UnspecifiedMatching MONDO:0005342 IgA glomerulonephritis skos:exactMatch MEDGEN:9032 semapv:UnspecifiedMatching MONDO:0005342 IgA glomerulonephritis skos:exactMatch NCIT:C34643 IgA Nephropathy semapv:UnspecifiedMatching MONDO:0005342 IgA glomerulonephritis skos:exactMatch Orphanet:34145 Immunoglobulin A nephropathy semapv:UnspecifiedMatching MONDO:0005342 IgA glomerulonephritis skos:exactMatch SCTID:68779003 semapv:UnspecifiedMatching MONDO:0005342 IgA glomerulonephritis skos:exactMatch UMLS:C0017661 semapv:UnspecifiedMatching MONDO:0005342 IgA glomerulonephritis skos:exactMatch mesh:D005922 semapv:UnspecifiedMatching MONDO:0005344 hepatitis B virus infection skos:exactMatch DOID:2043 hepatitis B semapv:UnspecifiedMatching MONDO:0005344 hepatitis B virus infection skos:exactMatch EFO:0004197 semapv:UnspecifiedMatching MONDO:0005344 hepatitis B virus infection skos:exactMatch MEDGEN:6807 semapv:UnspecifiedMatching MONDO:0005344 hepatitis B virus infection skos:exactMatch NCIT:C3097 Hepatitis B Infection semapv:UnspecifiedMatching MONDO:0005344 hepatitis B virus infection skos:exactMatch SCTID:66071002 semapv:UnspecifiedMatching MONDO:0005344 hepatitis B virus infection skos:exactMatch UMLS:C0019163 semapv:UnspecifiedMatching MONDO:0005344 hepatitis B virus infection skos:exactMatch icd11.foundation:1718385802 Infections due to hepatitis B virus semapv:UnspecifiedMatching MONDO:0005344 hepatitis B virus infection skos:exactMatch mesh:D006509 semapv:UnspecifiedMatching MONDO:0005345 hypospadias skos:exactMatch DOID:10892 hypospadias semapv:UnspecifiedMatching MONDO:0005345 hypospadias skos:exactMatch EFO:0004209 semapv:UnspecifiedMatching MONDO:0005345 hypospadias skos:exactMatch ICD10CM:Q54 Hypospadias semapv:UnspecifiedMatching MONDO:0005345 hypospadias skos:exactMatch MEDGEN:163083 semapv:UnspecifiedMatching MONDO:0005345 hypospadias skos:exactMatch NCIT:C40341 Hypospadias semapv:UnspecifiedMatching MONDO:0005345 hypospadias skos:exactMatch OMIMPS:300633 Hypospadias semapv:UnspecifiedMatching MONDO:0005345 hypospadias skos:exactMatch SCTID:416010008 semapv:UnspecifiedMatching MONDO:0005345 hypospadias skos:exactMatch UMLS:C0848558 semapv:UnspecifiedMatching MONDO:0005345 hypospadias skos:exactMatch icd11.foundation:810247271 Hypospadias semapv:UnspecifiedMatching MONDO:0005345 hypospadias skos:exactMatch mesh:D007021 semapv:UnspecifiedMatching MONDO:0005346 gallstones skos:exactMatch EFO:0004210 semapv:UnspecifiedMatching MONDO:0005346 gallstones skos:exactMatch MEDGEN:66850 semapv:UnspecifiedMatching MONDO:0005346 gallstones skos:exactMatch SCTID:235919008 semapv:UnspecifiedMatching MONDO:0005346 gallstones skos:exactMatch UMLS:C0242216 semapv:UnspecifiedMatching MONDO:0005346 gallstones skos:exactMatch mesh:D042882 semapv:UnspecifiedMatching MONDO:0005347 hypertriglyceridemia skos:exactMatch EFO:0004211 semapv:UnspecifiedMatching MONDO:0005347 hypertriglyceridemia skos:exactMatch MEDGEN:167238 semapv:UnspecifiedMatching MONDO:0005347 hypertriglyceridemia skos:exactMatch SCTID:302870006 semapv:UnspecifiedMatching MONDO:0005347 hypertriglyceridemia skos:exactMatch UMLS:C0813230 semapv:UnspecifiedMatching MONDO:0005347 hypertriglyceridemia skos:exactMatch mesh:D015228 semapv:UnspecifiedMatching MONDO:0005348 keloid skos:exactMatch EFO:0004212 semapv:UnspecifiedMatching MONDO:0005348 keloid skos:exactMatch MEDGEN:7197 semapv:UnspecifiedMatching MONDO:0005348 keloid skos:exactMatch NCIT:C3145 Keloid semapv:UnspecifiedMatching MONDO:0005348 keloid skos:exactMatch SCTID:33659008 semapv:UnspecifiedMatching MONDO:0005348 keloid skos:exactMatch UMLS:C0022548 semapv:UnspecifiedMatching MONDO:0005348 keloid skos:exactMatch icd11.foundation:2057714006 Keloid semapv:UnspecifiedMatching MONDO:0005348 keloid skos:exactMatch mesh:D007627 semapv:UnspecifiedMatching MONDO:0005349 otosclerosis skos:exactMatch DOID:12185 otosclerosis semapv:UnspecifiedMatching MONDO:0005349 otosclerosis skos:exactMatch EFO:0004213 semapv:UnspecifiedMatching MONDO:0005349 otosclerosis skos:exactMatch ICD10CM:H80 Otosclerosis semapv:UnspecifiedMatching MONDO:0005349 otosclerosis skos:exactMatch ICD10WHO:H80 Otosclerosis semapv:UnspecifiedMatching MONDO:0005349 otosclerosis skos:exactMatch MEDGEN:10508 semapv:UnspecifiedMatching MONDO:0005349 otosclerosis skos:exactMatch NCIT:C185242 Otosclerosis semapv:UnspecifiedMatching MONDO:0005349 otosclerosis skos:exactMatch OMIMPS:166800 Otosclerosis semapv:UnspecifiedMatching MONDO:0005349 otosclerosis skos:exactMatch SCTID:11543004 semapv:UnspecifiedMatching MONDO:0005349 otosclerosis skos:exactMatch UMLS:C0029899 semapv:UnspecifiedMatching MONDO:0005349 otosclerosis skos:exactMatch icd11.foundation:1242649410 Otosclerosis semapv:UnspecifiedMatching MONDO:0005349 otosclerosis skos:exactMatch mesh:D010040 semapv:UnspecifiedMatching MONDO:0005350 abdominal aortic aneurysm skos:exactMatch DOID:7693 abdominal aortic aneurysm semapv:UnspecifiedMatching MONDO:0005350 abdominal aortic aneurysm skos:exactMatch EFO:0004214 semapv:UnspecifiedMatching MONDO:0005350 abdominal aortic aneurysm skos:exactMatch MEDGEN:56524 semapv:UnspecifiedMatching MONDO:0005350 abdominal aortic aneurysm skos:exactMatch SCTID:233985008 semapv:UnspecifiedMatching MONDO:0005350 abdominal aortic aneurysm skos:exactMatch UMLS:C0162871 semapv:UnspecifiedMatching MONDO:0005350 abdominal aortic aneurysm skos:exactMatch icd11.foundation:1154633768 Abdominal aortic aneurysm semapv:UnspecifiedMatching MONDO:0005350 abdominal aortic aneurysm skos:exactMatch mesh:D017544 semapv:UnspecifiedMatching MONDO:0005351 anorexia nervosa skos:exactMatch DOID:8689 anorexia nervosa semapv:UnspecifiedMatching MONDO:0005351 anorexia nervosa skos:exactMatch ICD10CM:F50.0 Anorexia nervosa semapv:UnspecifiedMatching MONDO:0005351 anorexia nervosa skos:exactMatch MEDGEN:316 semapv:UnspecifiedMatching MONDO:0005351 anorexia nervosa skos:exactMatch NCIT:C34387 Anorexia Nervosa semapv:UnspecifiedMatching MONDO:0005351 anorexia nervosa skos:exactMatch SCTID:56882008 semapv:UnspecifiedMatching MONDO:0005351 anorexia nervosa skos:exactMatch UMLS:C0003125 semapv:UnspecifiedMatching MONDO:0005351 anorexia nervosa skos:exactMatch icd11.foundation:263852475 Anorexia Nervosa semapv:UnspecifiedMatching MONDO:0005351 anorexia nervosa skos:exactMatch mesh:D000856 semapv:UnspecifiedMatching MONDO:0005352 conduct disorder skos:exactMatch DOID:12995 conduct disorder semapv:UnspecifiedMatching MONDO:0005352 conduct disorder skos:exactMatch EFO:0004216 semapv:UnspecifiedMatching MONDO:0005352 conduct disorder skos:exactMatch MEDGEN:56196 semapv:UnspecifiedMatching MONDO:0005352 conduct disorder skos:exactMatch NCIT:C89329 Conduct Disorder semapv:UnspecifiedMatching MONDO:0005352 conduct disorder skos:exactMatch SCTID:430909002 semapv:UnspecifiedMatching MONDO:0005352 conduct disorder skos:exactMatch UMLS:C0149654 semapv:UnspecifiedMatching MONDO:0005352 conduct disorder skos:exactMatch mesh:D019955 semapv:UnspecifiedMatching MONDO:0005354 chronic hepatitis C virus infection skos:exactMatch EFO:0004220 semapv:UnspecifiedMatching MONDO:0005354 chronic hepatitis C virus infection skos:exactMatch icd11.foundation:1615937473 Chronic hepatitis C semapv:UnspecifiedMatching MONDO:0005354 chronic hepatitis C virus infection skos:exactMatch mesh:D019698 semapv:UnspecifiedMatching MONDO:0005355 coronary restenosis skos:exactMatch DOID:4247 coronary restenosis semapv:UnspecifiedMatching MONDO:0005355 coronary restenosis skos:exactMatch EFO:0004224 semapv:UnspecifiedMatching MONDO:0005355 coronary restenosis skos:exactMatch MEDGEN:182688 semapv:UnspecifiedMatching MONDO:0005355 coronary restenosis skos:exactMatch UMLS:C0948480 semapv:UnspecifiedMatching MONDO:0005355 coronary restenosis skos:exactMatch mesh:D023903 semapv:UnspecifiedMatching MONDO:0005356 coronary vasospasm skos:exactMatch DOID:11840 coronary artery vasospasm semapv:UnspecifiedMatching MONDO:0005356 coronary vasospasm skos:exactMatch EFO:0004225 semapv:UnspecifiedMatching MONDO:0005356 coronary vasospasm skos:exactMatch MEDGEN:3626 semapv:UnspecifiedMatching MONDO:0005356 coronary vasospasm skos:exactMatch SCTID:23687008 semapv:UnspecifiedMatching MONDO:0005356 coronary vasospasm skos:exactMatch UMLS:C0010073 semapv:UnspecifiedMatching MONDO:0005356 coronary vasospasm skos:exactMatch mesh:D003329 semapv:UnspecifiedMatching MONDO:0005357 Creutzfeldt Jacob disease skos:exactMatch DOID:11949 Creutzfeldt-Jakob disease semapv:UnspecifiedMatching MONDO:0005357 Creutzfeldt Jacob disease skos:exactMatch EFO:0004226 semapv:UnspecifiedMatching MONDO:0005357 Creutzfeldt Jacob disease skos:exactMatch MEDGEN:7179 semapv:UnspecifiedMatching MONDO:0005357 Creutzfeldt Jacob disease skos:exactMatch NCIT:C26802 Creutzfeldt-Jakob Disease semapv:UnspecifiedMatching MONDO:0005357 Creutzfeldt Jacob disease skos:exactMatch SCTID:792004 semapv:UnspecifiedMatching MONDO:0005357 Creutzfeldt Jacob disease skos:exactMatch UMLS:C0022336 semapv:UnspecifiedMatching MONDO:0005357 Creutzfeldt Jacob disease skos:exactMatch mesh:D007562 semapv:UnspecifiedMatching MONDO:0005358 Dengue hemorrhagic fever skos:exactMatch DOID:12206 dengue hemorrhagic fever semapv:UnspecifiedMatching MONDO:0005358 Dengue hemorrhagic fever skos:exactMatch EFO:0004227 semapv:UnspecifiedMatching MONDO:0005358 Dengue hemorrhagic fever skos:exactMatch ICD10CM:A91 Dengue hemorrhagic fever semapv:UnspecifiedMatching MONDO:0005358 Dengue hemorrhagic fever skos:exactMatch MEDGEN:5506 semapv:UnspecifiedMatching MONDO:0005358 Dengue hemorrhagic fever skos:exactMatch NCIT:C34683 Dengue Hemorrhagic Fever semapv:UnspecifiedMatching MONDO:0005358 Dengue hemorrhagic fever skos:exactMatch SCTID:20927009 semapv:UnspecifiedMatching MONDO:0005358 Dengue hemorrhagic fever skos:exactMatch UMLS:C0019100 semapv:UnspecifiedMatching MONDO:0005359 drug-induced liver injury skos:exactMatch EFO:0004228 semapv:UnspecifiedMatching MONDO:0005359 drug-induced liver injury skos:exactMatch MEDGEN:163652 semapv:UnspecifiedMatching MONDO:0005359 drug-induced liver injury skos:exactMatch SCTID:197352008 semapv:UnspecifiedMatching MONDO:0005359 drug-induced liver injury skos:exactMatch UMLS:C0860207 semapv:UnspecifiedMatching MONDO:0005359 drug-induced liver injury skos:exactMatch mesh:D056486 semapv:UnspecifiedMatching MONDO:0005361 eosinophilic esophagitis skos:exactMatch DOID:13922 eosinophilic esophagitis semapv:UnspecifiedMatching MONDO:0005361 eosinophilic esophagitis skos:exactMatch EFO:0004232 semapv:UnspecifiedMatching MONDO:0005361 eosinophilic esophagitis skos:exactMatch ICD10CM:K20.0 Eosinophilic esophagitis semapv:UnspecifiedMatching MONDO:0005361 eosinophilic esophagitis skos:exactMatch MEDGEN:83318 semapv:UnspecifiedMatching MONDO:0005361 eosinophilic esophagitis skos:exactMatch NCIT:C27105 Eosinophilic Esophagitis semapv:UnspecifiedMatching MONDO:0005361 eosinophilic esophagitis skos:exactMatch SCTID:235599003 semapv:UnspecifiedMatching MONDO:0005361 eosinophilic esophagitis skos:exactMatch UMLS:C0341106 semapv:UnspecifiedMatching MONDO:0005361 eosinophilic esophagitis skos:exactMatch mesh:D057765 semapv:UnspecifiedMatching MONDO:0005362 erectile dysfunction skos:exactMatch DOID:1875 impotence semapv:UnspecifiedMatching MONDO:0005362 erectile dysfunction skos:exactMatch EFO:0004234 semapv:UnspecifiedMatching MONDO:0005362 erectile dysfunction skos:exactMatch ICD10CM:F52.21 Male erectile disorder semapv:UnspecifiedMatching MONDO:0005362 erectile dysfunction skos:exactMatch MEDGEN:66879 semapv:UnspecifiedMatching MONDO:0005362 erectile dysfunction skos:exactMatch SCTID:397803000 semapv:UnspecifiedMatching MONDO:0005362 erectile dysfunction skos:exactMatch UMLS:C0242350 semapv:UnspecifiedMatching MONDO:0005362 erectile dysfunction skos:exactMatch mesh:D007172 semapv:UnspecifiedMatching MONDO:0005363 inherited focal segmental glomerulosclerosis skos:exactMatch OMIMPS:603278 Focal segmental glomerulosclerosis semapv:UnspecifiedMatching MONDO:0005364 Graves disease skos:exactMatch DOID:12361 Graves' disease semapv:UnspecifiedMatching MONDO:0005364 Graves disease skos:exactMatch EFO:0004237 semapv:UnspecifiedMatching MONDO:0005364 Graves disease skos:exactMatch MEDGEN:6677 semapv:UnspecifiedMatching MONDO:0005364 Graves disease skos:exactMatch NCIT:C3071 Graves Disease semapv:UnspecifiedMatching MONDO:0005364 Graves disease skos:exactMatch SCTID:353295004 semapv:UnspecifiedMatching MONDO:0005364 Graves disease skos:exactMatch UMLS:C0018213 semapv:UnspecifiedMatching MONDO:0005364 Graves disease skos:exactMatch mesh:D006111 semapv:UnspecifiedMatching MONDO:0005365 hearing loss disorder skos:exactMatch EFO:0004238 semapv:UnspecifiedMatching MONDO:0005365 hearing loss disorder skos:exactMatch ICD10CM:H90 Conductive and sensorineural hearing loss semapv:UnspecifiedMatching MONDO:0005365 hearing loss disorder skos:exactMatch MEDGEN:235586 semapv:UnspecifiedMatching MONDO:0005365 hearing loss disorder skos:exactMatch NCIT:C35731 Hearing Loss semapv:UnspecifiedMatching MONDO:0005365 hearing loss disorder skos:exactMatch SCTID:15188001 semapv:UnspecifiedMatching MONDO:0005365 hearing loss disorder skos:exactMatch UMLS:C1384666 semapv:UnspecifiedMatching MONDO:0005365 hearing loss disorder skos:exactMatch mesh:D034381 semapv:UnspecifiedMatching MONDO:0005366 chronic hepatitis B virus infection skos:exactMatch EFO:0004239 semapv:UnspecifiedMatching MONDO:0005366 chronic hepatitis B virus infection skos:exactMatch MEDGEN:99834 semapv:UnspecifiedMatching MONDO:0005366 chronic hepatitis B virus infection skos:exactMatch UMLS:C0524909 semapv:UnspecifiedMatching MONDO:0005366 chronic hepatitis B virus infection skos:exactMatch icd11.foundation:352087872 Chronic hepatitis B semapv:UnspecifiedMatching MONDO:0005366 chronic hepatitis B virus infection skos:exactMatch mesh:D019694 semapv:UnspecifiedMatching MONDO:0005367 heroin dependence skos:exactMatch DOID:9976 heroin dependence semapv:UnspecifiedMatching MONDO:0005367 heroin dependence skos:exactMatch EFO:0004240 semapv:UnspecifiedMatching MONDO:0005367 heroin dependence skos:exactMatch MEDGEN:5532 semapv:UnspecifiedMatching MONDO:0005367 heroin dependence skos:exactMatch NCIT:C34694 Heroin Dependence semapv:UnspecifiedMatching MONDO:0005367 heroin dependence skos:exactMatch SCTID:231477003 semapv:UnspecifiedMatching MONDO:0005367 heroin dependence skos:exactMatch UMLS:C0019337 semapv:UnspecifiedMatching MONDO:0005367 heroin dependence skos:exactMatch icd11.foundation:443161089 Heroin dependence semapv:UnspecifiedMatching MONDO:0005367 heroin dependence skos:exactMatch mesh:D006556 semapv:UnspecifiedMatching MONDO:0005369 carcinoid tumor skos:exactMatch EFO:0004243 semapv:UnspecifiedMatching MONDO:0005369 carcinoid tumor skos:exactMatch MEDGEN:2838 semapv:UnspecifiedMatching MONDO:0005369 carcinoid tumor skos:exactMatch SCTID:443492008 semapv:UnspecifiedMatching MONDO:0005369 carcinoid tumor skos:exactMatch UMLS:C0007095 semapv:UnspecifiedMatching MONDO:0005369 carcinoid tumor skos:exactMatch mesh:D002276 semapv:UnspecifiedMatching MONDO:0005371 mood disorder skos:exactMatch DOID:3324 mood disorder semapv:UnspecifiedMatching MONDO:0005371 mood disorder skos:exactMatch EFO:0004247 semapv:UnspecifiedMatching MONDO:0005371 mood disorder skos:exactMatch ICD10CM:F30-F39 Mood [affective] disorders (F30-F39) semapv:UnspecifiedMatching MONDO:0005371 mood disorder skos:exactMatch MEDGEN:99866 semapv:UnspecifiedMatching MONDO:0005371 mood disorder skos:exactMatch NCIT:C92200 Mood Disorder semapv:UnspecifiedMatching MONDO:0005371 mood disorder skos:exactMatch SCTID:46206005 semapv:UnspecifiedMatching MONDO:0005371 mood disorder skos:exactMatch UMLS:C0525045 semapv:UnspecifiedMatching MONDO:0005371 mood disorder skos:exactMatch mesh:D019964 semapv:UnspecifiedMatching MONDO:0005372 male infertility skos:exactMatch DOID:12336 male infertility semapv:UnspecifiedMatching MONDO:0005372 male infertility skos:exactMatch EFO:0004248 semapv:UnspecifiedMatching MONDO:0005372 male infertility skos:exactMatch ICD10CM:N46 Male infertility semapv:UnspecifiedMatching MONDO:0005372 male infertility skos:exactMatch ICD10WHO:N46 Male infertility semapv:UnspecifiedMatching MONDO:0005372 male infertility skos:exactMatch MEDGEN:5796 semapv:UnspecifiedMatching MONDO:0005372 male infertility skos:exactMatch SCTID:2904007 semapv:UnspecifiedMatching MONDO:0005372 male infertility skos:exactMatch UMLS:C0021364 semapv:UnspecifiedMatching MONDO:0005372 male infertility skos:exactMatch icd11.foundation:753457327 Male infertility semapv:UnspecifiedMatching MONDO:0005372 male infertility skos:exactMatch mesh:D007248 semapv:UnspecifiedMatching MONDO:0005373 meningococcal infection skos:exactMatch EFO:0004249 semapv:UnspecifiedMatching MONDO:0005373 meningococcal infection skos:exactMatch ICD10CM:A39 Meningococcal infection semapv:UnspecifiedMatching MONDO:0005373 meningococcal infection skos:exactMatch ICD10WHO:A39 Meningococcal infection semapv:UnspecifiedMatching MONDO:0005373 meningococcal infection skos:exactMatch MEDGEN:7537 semapv:UnspecifiedMatching MONDO:0005373 meningococcal infection skos:exactMatch SCTID:23511006 semapv:UnspecifiedMatching MONDO:0005373 meningococcal infection skos:exactMatch UMLS:C0025303 semapv:UnspecifiedMatching MONDO:0005373 meningococcal infection skos:exactMatch mesh:D008589 semapv:UnspecifiedMatching MONDO:0005374 bone marrow neoplasm skos:exactMatch DOID:4960 bone marrow cancer semapv:UnspecifiedMatching MONDO:0005374 bone marrow neoplasm skos:exactMatch MEDGEN:129203 semapv:UnspecifiedMatching MONDO:0005374 bone marrow neoplasm skos:exactMatch NCIT:C35370 Bone Marrow Neoplasm semapv:UnspecifiedMatching MONDO:0005374 bone marrow neoplasm skos:exactMatch SCTID:414824005 semapv:UnspecifiedMatching MONDO:0005374 bone marrow neoplasm skos:exactMatch UMLS:C0282609 semapv:UnspecifiedMatching MONDO:0005374 bone marrow neoplasm skos:exactMatch mesh:D019046 semapv:UnspecifiedMatching MONDO:0005375 nasopharyngeal neoplasm skos:exactMatch EFO:0004252 semapv:UnspecifiedMatching MONDO:0005375 nasopharyngeal neoplasm skos:exactMatch MEDGEN:6526 semapv:UnspecifiedMatching MONDO:0005375 nasopharyngeal neoplasm skos:exactMatch NCIT:C3257 Nasopharyngeal Neoplasm semapv:UnspecifiedMatching MONDO:0005375 nasopharyngeal neoplasm skos:exactMatch SCTID:126680004 semapv:UnspecifiedMatching MONDO:0005375 nasopharyngeal neoplasm skos:exactMatch UMLS:C0027439 semapv:UnspecifiedMatching MONDO:0005375 nasopharyngeal neoplasm skos:exactMatch mesh:D009303 semapv:UnspecifiedMatching MONDO:0005376 membranous glomerulonephritis skos:exactMatch DOID:10976 membranous glomerulonephritis semapv:UnspecifiedMatching MONDO:0005376 membranous glomerulonephritis skos:exactMatch EFO:0004254 semapv:UnspecifiedMatching MONDO:0005376 membranous glomerulonephritis skos:exactMatch MEDGEN:42231 semapv:UnspecifiedMatching MONDO:0005376 membranous glomerulonephritis skos:exactMatch NCIT:C34645 Membranous Glomerulonephritis semapv:UnspecifiedMatching MONDO:0005376 membranous glomerulonephritis skos:exactMatch SCTID:77182004 semapv:UnspecifiedMatching MONDO:0005376 membranous glomerulonephritis skos:exactMatch UMLS:C0017665 semapv:UnspecifiedMatching MONDO:0005376 membranous glomerulonephritis skos:exactMatch mesh:D015433 semapv:UnspecifiedMatching MONDO:0005377 nephrotic syndrome skos:exactMatch DOID:1184 nephrotic syndrome semapv:UnspecifiedMatching MONDO:0005377 nephrotic syndrome skos:exactMatch EFO:0004255 semapv:UnspecifiedMatching MONDO:0005377 nephrotic syndrome skos:exactMatch ICD10CM:N04 Nephrotic syndrome semapv:UnspecifiedMatching MONDO:0005377 nephrotic syndrome skos:exactMatch ICD10WHO:N04 Nephrotic syndrome semapv:UnspecifiedMatching MONDO:0005377 nephrotic syndrome skos:exactMatch MEDGEN:10308 semapv:UnspecifiedMatching MONDO:0005377 nephrotic syndrome skos:exactMatch NCIT:C34845 Nephrotic Syndrome semapv:UnspecifiedMatching MONDO:0005377 nephrotic syndrome skos:exactMatch SCTID:52254009 semapv:UnspecifiedMatching MONDO:0005377 nephrotic syndrome skos:exactMatch UMLS:C0027726 semapv:UnspecifiedMatching MONDO:0005377 nephrotic syndrome skos:exactMatch icd11.foundation:1184209951 Nephrotic syndrome semapv:UnspecifiedMatching MONDO:0005377 nephrotic syndrome skos:exactMatch mesh:D009404 semapv:UnspecifiedMatching MONDO:0005379 neurotic disorder skos:exactMatch DOID:4964 neurotic disorder semapv:UnspecifiedMatching MONDO:0005379 neurotic disorder skos:exactMatch EFO:0004257 semapv:UnspecifiedMatching MONDO:0005379 neurotic disorder skos:exactMatch MEDGEN:10334 semapv:UnspecifiedMatching MONDO:0005379 neurotic disorder skos:exactMatch NCIT:C34848 Neurosis semapv:UnspecifiedMatching MONDO:0005379 neurotic disorder skos:exactMatch SCTID:111475002 semapv:UnspecifiedMatching MONDO:0005379 neurotic disorder skos:exactMatch UMLS:C0027932 semapv:UnspecifiedMatching MONDO:0005379 neurotic disorder skos:exactMatch mesh:D009497 semapv:UnspecifiedMatching MONDO:0005380 osteonecrosis skos:exactMatch DOID:0080008 ischemic bone disease semapv:UnspecifiedMatching MONDO:0005380 osteonecrosis skos:exactMatch DOID:10159 osteonecrosis semapv:UnspecifiedMatching MONDO:0005380 osteonecrosis skos:exactMatch EFO:0004259 semapv:UnspecifiedMatching MONDO:0005380 osteonecrosis skos:exactMatch ICD10CM:M87 Osteonecrosis semapv:UnspecifiedMatching MONDO:0005380 osteonecrosis skos:exactMatch ICD10WHO:M87 Osteonecrosis semapv:UnspecifiedMatching MONDO:0005380 osteonecrosis skos:exactMatch MEDGEN:45249 semapv:UnspecifiedMatching MONDO:0005380 osteonecrosis skos:exactMatch NCIT:C34880 Bone Necrosis semapv:UnspecifiedMatching MONDO:0005380 osteonecrosis skos:exactMatch NCIT:C35476 Aseptic Necrosis of Bone semapv:UnspecifiedMatching MONDO:0005380 osteonecrosis skos:exactMatch Orphanet:399158 Osteonecrosis semapv:UnspecifiedMatching MONDO:0005380 osteonecrosis skos:exactMatch SCTID:240196003 semapv:UnspecifiedMatching MONDO:0005380 osteonecrosis skos:exactMatch UMLS:C0029445 semapv:UnspecifiedMatching MONDO:0005380 osteonecrosis skos:exactMatch icd11.foundation:536467755 Osteonecrosis semapv:UnspecifiedMatching MONDO:0005380 osteonecrosis skos:exactMatch mesh:D010020 semapv:UnspecifiedMatching MONDO:0005381 bone disorder skos:exactMatch DOID:0080001 bone disease semapv:UnspecifiedMatching MONDO:0005381 bone disorder skos:exactMatch EFO:0004260 semapv:UnspecifiedMatching MONDO:0005381 bone disorder skos:exactMatch ICD10CM:M80-M85 Disorders of bone density and structure (M80-M85) semapv:UnspecifiedMatching MONDO:0005381 bone disorder skos:exactMatch MEDGEN:14182 semapv:UnspecifiedMatching MONDO:0005381 bone disorder skos:exactMatch SCTID:76069003 semapv:UnspecifiedMatching MONDO:0005381 bone disorder skos:exactMatch UMLS:C0005940 semapv:UnspecifiedMatching MONDO:0005381 bone disorder skos:exactMatch mesh:D001847 semapv:UnspecifiedMatching MONDO:0005382 bone Paget disease skos:exactMatch DOID:5408 Paget's disease of bone semapv:UnspecifiedMatching MONDO:0005382 bone Paget disease skos:exactMatch EFO:0004261 semapv:UnspecifiedMatching MONDO:0005382 bone Paget disease skos:exactMatch ICD10CM:M88 Osteitis deformans [Paget's disease of bone] semapv:UnspecifiedMatching MONDO:0005382 bone Paget disease skos:exactMatch MEDGEN:10493 semapv:UnspecifiedMatching MONDO:0005382 bone Paget disease skos:exactMatch NCIT:C3292 Bone Paget Disease semapv:UnspecifiedMatching MONDO:0005382 bone Paget disease skos:exactMatch OMIMPS:167250 Paget disease of bone semapv:UnspecifiedMatching MONDO:0005382 bone Paget disease skos:exactMatch SCTID:2089002 semapv:UnspecifiedMatching MONDO:0005382 bone Paget disease skos:exactMatch UMLS:C0029401 semapv:UnspecifiedMatching MONDO:0005383 panic disorder skos:exactMatch DOID:594 panic disorder semapv:UnspecifiedMatching MONDO:0005383 panic disorder skos:exactMatch EFO:0004262 semapv:UnspecifiedMatching MONDO:0005383 panic disorder skos:exactMatch ICD10CM:F41.0 Panic disorder [episodic paroxysmal anxiety] semapv:UnspecifiedMatching MONDO:0005383 panic disorder skos:exactMatch MEDGEN:14588 semapv:UnspecifiedMatching MONDO:0005383 panic disorder skos:exactMatch NCIT:C34890 Panic Disorder semapv:UnspecifiedMatching MONDO:0005383 panic disorder skos:exactMatch SCTID:371631005 semapv:UnspecifiedMatching MONDO:0005383 panic disorder skos:exactMatch UMLS:C0030319 semapv:UnspecifiedMatching MONDO:0005383 panic disorder skos:exactMatch icd11.foundation:56162827 Panic disorder semapv:UnspecifiedMatching MONDO:0005383 panic disorder skos:exactMatch mesh:D016584 semapv:UnspecifiedMatching MONDO:0005384 focal epilepsy skos:exactMatch DOID:2234 focal epilepsy semapv:UnspecifiedMatching MONDO:0005384 focal epilepsy skos:exactMatch EFO:0004263 semapv:UnspecifiedMatching MONDO:0005384 focal epilepsy skos:exactMatch MEDGEN:41836 semapv:UnspecifiedMatching MONDO:0005384 focal epilepsy skos:exactMatch NCIT:C122812 Partial Epilepsy semapv:UnspecifiedMatching MONDO:0005384 focal epilepsy skos:exactMatch SCTID:230381009 semapv:UnspecifiedMatching MONDO:0005384 focal epilepsy skos:exactMatch UMLS:C0014547 semapv:UnspecifiedMatching MONDO:0005384 focal epilepsy skos:exactMatch mesh:D004828 semapv:UnspecifiedMatching MONDO:0005385 vascular disorder skos:broadMatch ICD10CM:I00-I99 Diseases of the circulatory system (I00-I99) semapv:UnspecifiedMatching MONDO:0005385 vascular disorder skos:exactMatch DOID:178 vascular disease semapv:UnspecifiedMatching MONDO:0005385 vascular disorder skos:exactMatch EFO:0004264 semapv:UnspecifiedMatching MONDO:0005385 vascular disorder skos:exactMatch ICD10CM:I70-I79 Diseases of arteries, arterioles and capillaries (I70-I79) semapv:UnspecifiedMatching MONDO:0005385 vascular disorder skos:exactMatch MEDGEN:22621 semapv:UnspecifiedMatching MONDO:0005385 vascular disorder skos:exactMatch NCIT:C35117 Vascular Disorder semapv:UnspecifiedMatching MONDO:0005385 vascular disorder skos:exactMatch SCTID:27550009 semapv:UnspecifiedMatching MONDO:0005385 vascular disorder skos:exactMatch UMLS:C0042373 semapv:UnspecifiedMatching MONDO:0005385 vascular disorder skos:exactMatch mesh:D014652 semapv:UnspecifiedMatching MONDO:0005386 peripheral arterial disease skos:exactMatch DOID:0050830 peripheral artery disease semapv:UnspecifiedMatching MONDO:0005386 peripheral arterial disease skos:exactMatch EFO:0004265 semapv:UnspecifiedMatching MONDO:0005386 peripheral arterial disease skos:exactMatch MEDGEN:352846 semapv:UnspecifiedMatching MONDO:0005386 peripheral arterial disease skos:exactMatch NCIT:C84496 Peripheral Artery Disease semapv:UnspecifiedMatching MONDO:0005386 peripheral arterial disease skos:exactMatch SCTID:399957001 semapv:UnspecifiedMatching MONDO:0005386 peripheral arterial disease skos:exactMatch UMLS:C1704436 semapv:UnspecifiedMatching MONDO:0005386 peripheral arterial disease skos:exactMatch icd11.foundation:1821859817 Chronic arterial occlusive disease semapv:UnspecifiedMatching MONDO:0005386 peripheral arterial disease skos:exactMatch mesh:D058729 semapv:UnspecifiedMatching MONDO:0005387 primary ovarian failure skos:exactMatch DOID:5426 primary ovarian insufficiency semapv:UnspecifiedMatching MONDO:0005387 primary ovarian failure skos:exactMatch EFO:0004266 semapv:UnspecifiedMatching MONDO:0005387 primary ovarian failure skos:exactMatch ICD10CM:E28.3 Primary ovarian failure semapv:UnspecifiedMatching MONDO:0005387 primary ovarian failure skos:exactMatch MEDGEN:38820 semapv:UnspecifiedMatching MONDO:0005387 primary ovarian failure skos:exactMatch NCIT:C113352 Primary Ovarian Failure semapv:UnspecifiedMatching MONDO:0005387 primary ovarian failure skos:exactMatch SCTID:370999003 semapv:UnspecifiedMatching MONDO:0005387 primary ovarian failure skos:exactMatch SCTID:65846009 semapv:UnspecifiedMatching MONDO:0005387 primary ovarian failure skos:exactMatch UMLS:C0085215 semapv:UnspecifiedMatching MONDO:0005387 primary ovarian failure skos:exactMatch mesh:D016649 semapv:UnspecifiedMatching MONDO:0005388 primary biliary cholangitis skos:exactMatch DOID:12236 primary biliary cholangitis semapv:UnspecifiedMatching MONDO:0005388 primary biliary cholangitis skos:exactMatch EFO:1001486 semapv:UnspecifiedMatching MONDO:0005388 primary biliary cholangitis skos:exactMatch ICD10CM:K74.3 Primary biliary cirrhosis semapv:UnspecifiedMatching MONDO:0005388 primary biliary cholangitis skos:exactMatch MEDGEN:3035 semapv:UnspecifiedMatching MONDO:0005388 primary biliary cholangitis skos:exactMatch NCIT:C27167 Primary Biliary Cirrhosis semapv:UnspecifiedMatching MONDO:0005388 primary biliary cholangitis skos:exactMatch OMIMPS:109720 Biliary cirrhosis, primary semapv:UnspecifiedMatching MONDO:0005388 primary biliary cholangitis skos:exactMatch Orphanet:186 Primary biliary cholangitis semapv:UnspecifiedMatching MONDO:0005388 primary biliary cholangitis skos:exactMatch SCTID:31712002 semapv:UnspecifiedMatching MONDO:0005388 primary biliary cholangitis skos:exactMatch UMLS:C0008312 semapv:UnspecifiedMatching MONDO:0005388 primary biliary cholangitis skos:exactMatch icd11.foundation:649193479 Primary biliary cholangitis semapv:UnspecifiedMatching MONDO:0005388 primary biliary cholangitis skos:exactMatch mesh:D008105 semapv:UnspecifiedMatching MONDO:0005391 restless legs syndrome skos:exactMatch DOID:0050425 restless legs syndrome semapv:UnspecifiedMatching MONDO:0005391 restless legs syndrome skos:exactMatch EFO:0004270 semapv:UnspecifiedMatching MONDO:0005391 restless legs syndrome skos:exactMatch ICD10CM:G25.81 Restless legs syndrome semapv:UnspecifiedMatching MONDO:0005391 restless legs syndrome skos:exactMatch MEDGEN:48427 semapv:UnspecifiedMatching MONDO:0005391 restless legs syndrome skos:exactMatch NCIT:C84501 Restless Leg Syndrome semapv:UnspecifiedMatching MONDO:0005391 restless legs syndrome skos:exactMatch SCTID:32914008 semapv:UnspecifiedMatching MONDO:0005391 restless legs syndrome skos:exactMatch UMLS:C0035258 semapv:UnspecifiedMatching MONDO:0005391 restless legs syndrome skos:exactMatch icd11.foundation:1254916765 Restless legs syndrome semapv:UnspecifiedMatching MONDO:0005391 restless legs syndrome skos:exactMatch mesh:D012148 semapv:UnspecifiedMatching MONDO:0005392 scoliosis skos:exactMatch DOID:0060249 scoliosis semapv:UnspecifiedMatching MONDO:0005392 scoliosis skos:exactMatch EFO:0004273 semapv:UnspecifiedMatching MONDO:0005392 scoliosis skos:exactMatch ICD10CM:M41 Scoliosis semapv:UnspecifiedMatching MONDO:0005392 scoliosis skos:exactMatch ICD10WHO:M41 Scoliosis semapv:UnspecifiedMatching MONDO:0005392 scoliosis skos:exactMatch MEDGEN:11348 semapv:UnspecifiedMatching MONDO:0005392 scoliosis skos:exactMatch NCIT:C78603 Scoliosis semapv:UnspecifiedMatching MONDO:0005392 scoliosis skos:exactMatch SCTID:298382003 semapv:UnspecifiedMatching MONDO:0005392 scoliosis skos:exactMatch UMLS:C0036439 semapv:UnspecifiedMatching MONDO:0005392 scoliosis skos:exactMatch icd11.foundation:1925604007 Scoliosis semapv:UnspecifiedMatching MONDO:0005392 scoliosis skos:exactMatch mesh:D012600 semapv:UnspecifiedMatching MONDO:0005393 gout skos:exactMatch DOID:13189 gout semapv:UnspecifiedMatching MONDO:0005393 gout skos:exactMatch EFO:0004274 semapv:UnspecifiedMatching MONDO:0005393 gout skos:exactMatch ICD10CM:M10 Gout semapv:UnspecifiedMatching MONDO:0005393 gout skos:exactMatch MEDGEN:42280 semapv:UnspecifiedMatching MONDO:0005393 gout skos:exactMatch NCIT:C34650 Gout semapv:UnspecifiedMatching MONDO:0005393 gout skos:exactMatch SCTID:190828008 semapv:UnspecifiedMatching MONDO:0005393 gout skos:exactMatch UMLS:C0018099 semapv:UnspecifiedMatching MONDO:0005393 gout skos:exactMatch icd11.foundation:395622227 Gout semapv:UnspecifiedMatching MONDO:0005393 gout skos:exactMatch mesh:D006073 semapv:UnspecifiedMatching MONDO:0005394 brain infarction skos:exactMatch DOID:3454 brain infarction semapv:UnspecifiedMatching MONDO:0005394 brain infarction skos:exactMatch EFO:0004277 semapv:UnspecifiedMatching MONDO:0005394 brain infarction skos:exactMatch MEDGEN:148426 semapv:UnspecifiedMatching MONDO:0005394 brain infarction skos:exactMatch UMLS:C0751955 semapv:UnspecifiedMatching MONDO:0005394 brain infarction skos:exactMatch mesh:D020520 semapv:UnspecifiedMatching MONDO:0005395 movement disorder skos:exactMatch DOID:480 movement disease semapv:UnspecifiedMatching MONDO:0005395 movement disorder skos:exactMatch EFO:0004280 semapv:UnspecifiedMatching MONDO:0005395 movement disorder skos:exactMatch MEDGEN:10113 semapv:UnspecifiedMatching MONDO:0005395 movement disorder skos:exactMatch NCIT:C116757 Movement Disorder semapv:UnspecifiedMatching MONDO:0005395 movement disorder skos:exactMatch SCTID:60342002 semapv:UnspecifiedMatching MONDO:0005395 movement disorder skos:exactMatch UMLS:C0026650 semapv:UnspecifiedMatching MONDO:0005395 movement disorder skos:exactMatch mesh:D009069 semapv:UnspecifiedMatching MONDO:0005396 thoracic aortic aneurysm skos:exactMatch DOID:14004 thoracic aortic aneurysm semapv:UnspecifiedMatching MONDO:0005396 thoracic aortic aneurysm skos:exactMatch EFO:0004282 semapv:UnspecifiedMatching MONDO:0005396 thoracic aortic aneurysm skos:exactMatch MEDGEN:56525 semapv:UnspecifiedMatching MONDO:0005396 thoracic aortic aneurysm skos:exactMatch SCTID:433068007 semapv:UnspecifiedMatching MONDO:0005396 thoracic aortic aneurysm skos:exactMatch UMLS:C0162872 semapv:UnspecifiedMatching MONDO:0005396 thoracic aortic aneurysm skos:exactMatch icd11.foundation:1383534118 Thoracic aortic aneurysm semapv:UnspecifiedMatching MONDO:0005396 thoracic aortic aneurysm skos:exactMatch mesh:D017545 semapv:UnspecifiedMatching MONDO:0005397 goiter skos:exactMatch DOID:12176 goiter semapv:UnspecifiedMatching MONDO:0005397 goiter skos:exactMatch EFO:0004283 semapv:UnspecifiedMatching MONDO:0005397 goiter skos:exactMatch MEDGEN:42270 semapv:UnspecifiedMatching MONDO:0005397 goiter skos:exactMatch NCIT:C26785 Goiter semapv:UnspecifiedMatching MONDO:0005397 goiter skos:exactMatch SCTID:3716002 semapv:UnspecifiedMatching MONDO:0005397 goiter skos:exactMatch UMLS:C0018021 semapv:UnspecifiedMatching MONDO:0005397 goiter skos:exactMatch mesh:D006042 semapv:UnspecifiedMatching MONDO:0005398 upper aerodigestive tract neoplasm skos:exactMatch EFO:0004284 semapv:UnspecifiedMatching MONDO:0005398 upper aerodigestive tract neoplasm skos:exactMatch MEDGEN:164664 semapv:UnspecifiedMatching MONDO:0005398 upper aerodigestive tract neoplasm skos:exactMatch SCTID:439361000 semapv:UnspecifiedMatching MONDO:0005398 upper aerodigestive tract neoplasm skos:exactMatch UMLS:C0887900 semapv:UnspecifiedMatching MONDO:0005399 venous thromboembolism skos:exactMatch EFO:0004286 semapv:UnspecifiedMatching MONDO:0005399 venous thromboembolism skos:exactMatch MEDGEN:348285 semapv:UnspecifiedMatching MONDO:0005399 venous thromboembolism skos:exactMatch NCIT:C99537 Venous Thromboembolism semapv:UnspecifiedMatching MONDO:0005399 venous thromboembolism skos:exactMatch UMLS:C1861172 semapv:UnspecifiedMatching MONDO:0005399 venous thromboembolism skos:exactMatch icd11.foundation:1197943614 Venous thromboembolism semapv:UnspecifiedMatching MONDO:0005399 venous thromboembolism skos:exactMatch mesh:D054556 semapv:UnspecifiedMatching MONDO:0005401 colonic neoplasm skos:exactMatch EFO:0004288 semapv:UnspecifiedMatching MONDO:0005401 colonic neoplasm skos:exactMatch MEDGEN:3165 semapv:UnspecifiedMatching MONDO:0005401 colonic neoplasm skos:exactMatch NCIT:C2953 Colon Neoplasm semapv:UnspecifiedMatching MONDO:0005401 colonic neoplasm skos:exactMatch UMLS:C0009375 semapv:UnspecifiedMatching MONDO:0005401 colonic neoplasm skos:exactMatch mesh:D003110 semapv:UnspecifiedMatching MONDO:0005402 lymphoid leukemia skos:exactMatch DOID:1037 lymphoid leukemia semapv:UnspecifiedMatching MONDO:0005402 lymphoid leukemia skos:exactMatch EFO:0004289 semapv:UnspecifiedMatching MONDO:0005402 lymphoid leukemia skos:exactMatch ICD10CM:C91 Lymphoid leukemia semapv:UnspecifiedMatching MONDO:0005402 lymphoid leukemia skos:exactMatch MEDGEN:9728 semapv:UnspecifiedMatching MONDO:0005402 lymphoid leukemia skos:exactMatch NCIT:C7539 Lymphoid Leukemia semapv:UnspecifiedMatching MONDO:0005402 lymphoid leukemia skos:exactMatch SCTID:188726003 semapv:UnspecifiedMatching MONDO:0005402 lymphoid leukemia skos:exactMatch UMLS:C0023448 semapv:UnspecifiedMatching MONDO:0005402 lymphoid leukemia skos:exactMatch mesh:D007945 semapv:UnspecifiedMatching MONDO:0005404 myalgic encephalomeyelitis/chronic fatigue syndrome skos:exactMatch DOID:8544 chronic fatigue syndrome semapv:UnspecifiedMatching MONDO:0005404 myalgic encephalomeyelitis/chronic fatigue syndrome skos:exactMatch EFO:0004540 semapv:UnspecifiedMatching MONDO:0005404 myalgic encephalomeyelitis/chronic fatigue syndrome skos:exactMatch MEDGEN:5130 semapv:UnspecifiedMatching MONDO:0005404 myalgic encephalomeyelitis/chronic fatigue syndrome skos:exactMatch NCIT:C3037 Chronic Fatigue Syndrome semapv:UnspecifiedMatching MONDO:0005404 myalgic encephalomeyelitis/chronic fatigue syndrome skos:exactMatch SCTID:51771007 semapv:UnspecifiedMatching MONDO:0005404 myalgic encephalomeyelitis/chronic fatigue syndrome skos:exactMatch UMLS:C0015674 semapv:UnspecifiedMatching MONDO:0005404 myalgic encephalomeyelitis/chronic fatigue syndrome skos:exactMatch mesh:D015673 semapv:UnspecifiedMatching MONDO:0005405 childhood onset asthma skos:exactMatch DOID:0080815 childhood-onset asthma semapv:UnspecifiedMatching MONDO:0005405 childhood onset asthma skos:exactMatch MEDGEN:538550 semapv:UnspecifiedMatching MONDO:0005405 childhood onset asthma skos:exactMatch SCTID:233678006 semapv:UnspecifiedMatching MONDO:0005405 childhood onset asthma skos:exactMatch UMLS:C0264408 semapv:UnspecifiedMatching MONDO:0005406 gestational diabetes skos:exactMatch DOID:11714 gestational diabetes semapv:UnspecifiedMatching MONDO:0005406 gestational diabetes skos:exactMatch EFO:0004593 semapv:UnspecifiedMatching MONDO:0005406 gestational diabetes skos:exactMatch ICD10CM:O24.4 Gestational diabetes mellitus semapv:UnspecifiedMatching MONDO:0005406 gestational diabetes skos:exactMatch MEDGEN:38815 semapv:UnspecifiedMatching MONDO:0005406 gestational diabetes skos:exactMatch NCIT:C34942 Gestational Diabetes semapv:UnspecifiedMatching MONDO:0005406 gestational diabetes skos:exactMatch SCTID:11687002 semapv:UnspecifiedMatching MONDO:0005406 gestational diabetes skos:exactMatch UMLS:C0085207 semapv:UnspecifiedMatching MONDO:0005406 gestational diabetes skos:exactMatch icd11.foundation:1320503631 Diabetes mellitus arising in pregnancy semapv:UnspecifiedMatching MONDO:0005406 gestational diabetes skos:exactMatch mesh:D016640 semapv:UnspecifiedMatching MONDO:0005408 diabetes mellitus type 2 associated cataract skos:exactMatch EFO:0004596 semapv:UnspecifiedMatching MONDO:0005408 diabetes mellitus type 2 associated cataract skos:exactMatch MEDGEN:739998 semapv:UnspecifiedMatching MONDO:0005408 diabetes mellitus type 2 associated cataract skos:exactMatch UMLS:C1720171 semapv:UnspecifiedMatching MONDO:0005411 gallbladder cancer skos:exactMatch DOID:3121 gallbladder cancer semapv:UnspecifiedMatching MONDO:0005411 gallbladder cancer skos:exactMatch ICD10CM:C23 Malignant neoplasm of gallbladder semapv:UnspecifiedMatching MONDO:0005411 gallbladder cancer skos:exactMatch MEDGEN:57784 semapv:UnspecifiedMatching MONDO:0005411 gallbladder cancer skos:exactMatch NCIT:C7481 Malignant Gallbladder Neoplasm semapv:UnspecifiedMatching MONDO:0005411 gallbladder cancer skos:exactMatch SCTID:363353009 semapv:UnspecifiedMatching MONDO:0005411 gallbladder cancer skos:exactMatch UMLS:C0153452 semapv:UnspecifiedMatching MONDO:0005411 gallbladder cancer skos:exactMatch icd11.foundation:922082116 Malignant neoplasms of gallbladder semapv:UnspecifiedMatching MONDO:0005412 duodenal ulcer skos:exactMatch DOID:1724 duodenal ulcer semapv:UnspecifiedMatching MONDO:0005412 duodenal ulcer skos:exactMatch EFO:0004607 semapv:UnspecifiedMatching MONDO:0005412 duodenal ulcer skos:exactMatch ICD10CM:K26 Duodenal ulcer semapv:UnspecifiedMatching MONDO:0005412 duodenal ulcer skos:exactMatch ICD10WHO:K26 Duodenal ulcer semapv:UnspecifiedMatching MONDO:0005412 duodenal ulcer skos:exactMatch MEDGEN:41670 semapv:UnspecifiedMatching MONDO:0005412 duodenal ulcer skos:exactMatch NCIT:C26755 Duodenal Ulcer semapv:UnspecifiedMatching MONDO:0005412 duodenal ulcer skos:exactMatch SCTID:39755000 semapv:UnspecifiedMatching MONDO:0005412 duodenal ulcer skos:exactMatch UMLS:C0013295 semapv:UnspecifiedMatching MONDO:0005412 duodenal ulcer skos:exactMatch icd11.foundation:553678663 Duodenal ulcer semapv:UnspecifiedMatching MONDO:0005412 duodenal ulcer skos:exactMatch mesh:D004381 semapv:UnspecifiedMatching MONDO:0005413 cystic fibrosis associated meconium ileus skos:exactMatch EFO:0004608 semapv:UnspecifiedMatching MONDO:0005413 cystic fibrosis associated meconium ileus skos:exactMatch MEDGEN:639765 semapv:UnspecifiedMatching MONDO:0005413 cystic fibrosis associated meconium ileus skos:exactMatch UMLS:C0546982 semapv:UnspecifiedMatching MONDO:0005414 treatment-refractory schizophrenia skos:exactMatch EFO:0004609 semapv:UnspecifiedMatching MONDO:0005414 treatment-refractory schizophrenia skos:exactMatch MEDGEN:1786789 semapv:UnspecifiedMatching MONDO:0005414 treatment-refractory schizophrenia skos:exactMatch UMLS:C3544321 semapv:UnspecifiedMatching MONDO:0005416 osteoarthritis, knee skos:exactMatch EFO:0004616 semapv:UnspecifiedMatching MONDO:0005416 osteoarthritis, knee skos:exactMatch MEDGEN:98371 semapv:UnspecifiedMatching MONDO:0005416 osteoarthritis, knee skos:exactMatch UMLS:C0409959 semapv:UnspecifiedMatching MONDO:0005416 osteoarthritis, knee skos:exactMatch mesh:D020370 semapv:UnspecifiedMatching MONDO:0005417 wet macular degeneration skos:exactMatch DOID:10873 Kuhnt-Junius degeneration semapv:UnspecifiedMatching MONDO:0005417 wet macular degeneration skos:exactMatch EFO:0004683 semapv:UnspecifiedMatching MONDO:0005417 wet macular degeneration skos:exactMatch MEDGEN:389185 semapv:UnspecifiedMatching MONDO:0005417 wet macular degeneration skos:exactMatch SCTID:414173003 semapv:UnspecifiedMatching MONDO:0005417 wet macular degeneration skos:exactMatch UMLS:C2237660 semapv:UnspecifiedMatching MONDO:0005417 wet macular degeneration skos:exactMatch mesh:D057135 semapv:UnspecifiedMatching MONDO:0005418 non-compaction cardiomyopathy skos:exactMatch EFO:0004686 semapv:UnspecifiedMatching MONDO:0005418 non-compaction cardiomyopathy skos:exactMatch MEDGEN:1843481 semapv:UnspecifiedMatching MONDO:0005418 non-compaction cardiomyopathy skos:exactMatch UMLS:C4324548 semapv:UnspecifiedMatching MONDO:0005419 methamphetamine dependence skos:exactMatch EFO:0004701 semapv:UnspecifiedMatching MONDO:0005419 methamphetamine dependence skos:exactMatch MEDGEN:735816 semapv:UnspecifiedMatching MONDO:0005419 methamphetamine dependence skos:exactMatch UMLS:C1533217 semapv:UnspecifiedMatching MONDO:0005420 hypothyroidism skos:exactMatch DOID:1459 hypothyroidism semapv:UnspecifiedMatching MONDO:0005420 hypothyroidism skos:exactMatch EFO:0004705 semapv:UnspecifiedMatching MONDO:0005420 hypothyroidism skos:exactMatch MEDGEN:6991 semapv:UnspecifiedMatching MONDO:0005420 hypothyroidism skos:exactMatch NCIT:C26800 Hypothyroidism semapv:UnspecifiedMatching MONDO:0005420 hypothyroidism skos:exactMatch SCTID:40930008 semapv:UnspecifiedMatching MONDO:0005420 hypothyroidism skos:exactMatch UMLS:C0020676 semapv:UnspecifiedMatching MONDO:0005420 hypothyroidism skos:exactMatch icd11.foundation:1722092627 Hypothyroidism semapv:UnspecifiedMatching MONDO:0005420 hypothyroidism skos:exactMatch mesh:D007037 semapv:UnspecifiedMatching MONDO:0005424 elephantiasis skos:exactMatch DOID:4976 elephantiasis semapv:UnspecifiedMatching MONDO:0005424 elephantiasis skos:exactMatch EFO:0004711 semapv:UnspecifiedMatching MONDO:0005424 elephantiasis skos:exactMatch MEDGEN:8582 semapv:UnspecifiedMatching MONDO:0005424 elephantiasis skos:exactMatch UMLS:C0013882 semapv:UnspecifiedMatching MONDO:0005424 elephantiasis skos:exactMatch mesh:D004604 semapv:UnspecifiedMatching MONDO:0005425 podoconiosis skos:exactMatch DOID:0050138 podoconiosis semapv:UnspecifiedMatching MONDO:0005425 podoconiosis skos:exactMatch EFO:0004712 semapv:UnspecifiedMatching MONDO:0005425 podoconiosis skos:exactMatch MEDGEN:473377 semapv:UnspecifiedMatching MONDO:0005425 podoconiosis skos:exactMatch SCTID:47595008 semapv:UnspecifiedMatching MONDO:0005425 podoconiosis skos:exactMatch UMLS:C1280469 semapv:UnspecifiedMatching MONDO:0005429 prion disease skos:exactMatch DOID:649 prion disease semapv:UnspecifiedMatching MONDO:0005429 prion disease skos:exactMatch EFO:0004720 semapv:UnspecifiedMatching MONDO:0005429 prion disease skos:exactMatch MEDGEN:56445 semapv:UnspecifiedMatching MONDO:0005429 prion disease skos:exactMatch NCIT:C128346 Transmissible Spongiform Encephalopathy semapv:UnspecifiedMatching MONDO:0005429 prion disease skos:exactMatch SCTID:230284004 semapv:UnspecifiedMatching MONDO:0005429 prion disease skos:exactMatch UMLS:C0162534 semapv:UnspecifiedMatching MONDO:0005429 prion disease skos:exactMatch mesh:D017096 semapv:UnspecifiedMatching MONDO:0005430 early onset hypertension skos:exactMatch EFO:0004772 semapv:UnspecifiedMatching MONDO:0005433 alcohol withdrawal skos:exactMatch EFO:0004777 semapv:UnspecifiedMatching MONDO:0005433 alcohol withdrawal skos:exactMatch MEDGEN:536543 semapv:UnspecifiedMatching MONDO:0005433 alcohol withdrawal skos:exactMatch SCTID:191480000 semapv:UnspecifiedMatching MONDO:0005433 alcohol withdrawal skos:exactMatch UMLS:C0236663 semapv:UnspecifiedMatching MONDO:0005433 alcohol withdrawal skos:exactMatch icd11.foundation:998231424 Alcohol withdrawal semapv:UnspecifiedMatching MONDO:0005434 skin sensitivity to sun skos:exactMatch EFO:0004795 semapv:UnspecifiedMatching MONDO:0005434 skin sensitivity to sun skos:exactMatch MEDGEN:87601 semapv:UnspecifiedMatching MONDO:0005434 skin sensitivity to sun skos:exactMatch UMLS:C0349506 semapv:UnspecifiedMatching MONDO:0005435 anti-neutrophil antibody associated vasculitis skos:exactMatch EFO:0004826 semapv:UnspecifiedMatching MONDO:0005437 testicular dysgenesis syndrome skos:exactMatch EFO:0004893 semapv:UnspecifiedMatching MONDO:0005437 testicular dysgenesis syndrome skos:exactMatch MEDGEN:754060 semapv:UnspecifiedMatching MONDO:0005437 testicular dysgenesis syndrome skos:exactMatch SCTID:445338005 semapv:UnspecifiedMatching MONDO:0005437 testicular dysgenesis syndrome skos:exactMatch UMLS:C2919755 semapv:UnspecifiedMatching MONDO:0005438 metastatic malignant neoplasm in the lymph nodes skos:exactMatch EFO:0004906 semapv:UnspecifiedMatching MONDO:0005438 metastatic malignant neoplasm in the lymph nodes skos:exactMatch MEDGEN:151947 semapv:UnspecifiedMatching MONDO:0005438 metastatic malignant neoplasm in the lymph nodes skos:exactMatch NCIT:C4904 Metastatic Malignant Neoplasm in the Lymph Nodes semapv:UnspecifiedMatching MONDO:0005438 metastatic malignant neoplasm in the lymph nodes skos:exactMatch UMLS:C0686619 semapv:UnspecifiedMatching MONDO:0005439 familial hypercholesterolemia skos:exactMatch DOID:13810 familial hypercholesterolemia semapv:UnspecifiedMatching MONDO:0005439 familial hypercholesterolemia skos:exactMatch EFO:0004911 semapv:UnspecifiedMatching MONDO:0005439 familial hypercholesterolemia skos:exactMatch ICD10CM:E78.01 Familial hypercholesterolemia semapv:UnspecifiedMatching MONDO:0005439 familial hypercholesterolemia skos:exactMatch MEDGEN:5688 semapv:UnspecifiedMatching MONDO:0005439 familial hypercholesterolemia skos:exactMatch NCIT:C34704 Hyperlipoproteinemia, Type II semapv:UnspecifiedMatching MONDO:0005439 familial hypercholesterolemia skos:exactMatch OMIMPS:143890 Hypercholesterolemia, familial semapv:UnspecifiedMatching MONDO:0005439 familial hypercholesterolemia skos:exactMatch SCTID:190773008 semapv:UnspecifiedMatching MONDO:0005439 familial hypercholesterolemia skos:exactMatch UMLS:C0020445 semapv:UnspecifiedMatching MONDO:0005440 embryonal carcinoma skos:exactMatch DOID:3308 embryonal carcinoma semapv:UnspecifiedMatching MONDO:0005440 embryonal carcinoma skos:exactMatch EFO:0004986 semapv:UnspecifiedMatching MONDO:0005440 embryonal carcinoma skos:exactMatch MEDGEN:61653 semapv:UnspecifiedMatching MONDO:0005440 embryonal carcinoma skos:exactMatch NCIT:C3752 Embryonal Carcinoma semapv:UnspecifiedMatching MONDO:0005440 embryonal carcinoma skos:exactMatch Orphanet:180226 Embryonal carcinoma semapv:UnspecifiedMatching MONDO:0005440 embryonal carcinoma skos:exactMatch UMLS:C0206659 semapv:UnspecifiedMatching MONDO:0005440 embryonal carcinoma skos:exactMatch mesh:D018236 semapv:UnspecifiedMatching MONDO:0005441 otitis media skos:exactMatch DOID:10754 otitis media semapv:UnspecifiedMatching MONDO:0005441 otitis media skos:exactMatch EFO:0004992 semapv:UnspecifiedMatching MONDO:0005441 otitis media skos:exactMatch MEDGEN:45253 semapv:UnspecifiedMatching MONDO:0005441 otitis media skos:exactMatch NCIT:C34885 Otitis Media semapv:UnspecifiedMatching MONDO:0005441 otitis media skos:exactMatch SCTID:65363002 semapv:UnspecifiedMatching MONDO:0005441 otitis media skos:exactMatch UMLS:C0029882 semapv:UnspecifiedMatching MONDO:0005441 otitis media skos:exactMatch icd11.foundation:1079654421 Otitis media semapv:UnspecifiedMatching MONDO:0005441 otitis media skos:exactMatch mesh:D010033 semapv:UnspecifiedMatching MONDO:0005445 visceral leishmaniasis skos:exactMatch DOID:9146 visceral leishmaniasis semapv:UnspecifiedMatching MONDO:0005445 visceral leishmaniasis skos:exactMatch EFO:0005045 semapv:UnspecifiedMatching MONDO:0005445 visceral leishmaniasis skos:exactMatch ICD10CM:B55.0 Visceral leishmaniasis semapv:UnspecifiedMatching MONDO:0005445 visceral leishmaniasis skos:exactMatch MEDGEN:44098 semapv:UnspecifiedMatching MONDO:0005445 visceral leishmaniasis skos:exactMatch NCIT:C34771 Kala-Azar semapv:UnspecifiedMatching MONDO:0005445 visceral leishmaniasis skos:exactMatch OMIMPS:608207 Kala-azar, susceptibility to semapv:UnspecifiedMatching MONDO:0005445 visceral leishmaniasis skos:exactMatch SCTID:186803007 semapv:UnspecifiedMatching MONDO:0005445 visceral leishmaniasis skos:exactMatch UMLS:C0023290 semapv:UnspecifiedMatching MONDO:0005445 visceral leishmaniasis skos:exactMatch icd11.foundation:1646564717 Visceral leishmaniasis semapv:UnspecifiedMatching MONDO:0005445 visceral leishmaniasis skos:exactMatch mesh:D007898 semapv:UnspecifiedMatching MONDO:0005446 cutaneous leishmaniasis skos:exactMatch DOID:9111 cutaneous leishmaniasis semapv:UnspecifiedMatching MONDO:0005446 cutaneous leishmaniasis skos:exactMatch EFO:0005046 semapv:UnspecifiedMatching MONDO:0005446 cutaneous leishmaniasis skos:exactMatch ICD10CM:B55.1 Cutaneous leishmaniasis semapv:UnspecifiedMatching MONDO:0005446 cutaneous leishmaniasis skos:exactMatch MEDGEN:9715 semapv:UnspecifiedMatching MONDO:0005446 cutaneous leishmaniasis skos:exactMatch NCIT:C34768 Cutaneous Leishmaniasis semapv:UnspecifiedMatching MONDO:0005446 cutaneous leishmaniasis skos:exactMatch NCIT:C34770 Asian Desert Cutaneous Leishmaniasis semapv:UnspecifiedMatching MONDO:0005446 cutaneous leishmaniasis skos:exactMatch SCTID:186807008 semapv:UnspecifiedMatching MONDO:0005446 cutaneous leishmaniasis skos:exactMatch UMLS:C0023283 semapv:UnspecifiedMatching MONDO:0005446 cutaneous leishmaniasis skos:exactMatch icd11.foundation:124737785 Cutaneous leishmaniasis semapv:UnspecifiedMatching MONDO:0005446 cutaneous leishmaniasis skos:exactMatch mesh:D016773 semapv:UnspecifiedMatching MONDO:0005447 testicular cancer skos:exactMatch DOID:2998 testicular cancer semapv:UnspecifiedMatching MONDO:0005447 testicular cancer skos:exactMatch EFO:0005088 semapv:UnspecifiedMatching MONDO:0005447 testicular cancer skos:exactMatch ICD10CM:C62 Malignant neoplasm of testis semapv:UnspecifiedMatching MONDO:0005447 testicular cancer skos:exactMatch MEDGEN:56313 semapv:UnspecifiedMatching MONDO:0005447 testicular cancer skos:exactMatch NCIT:C7251 Malignant Testicular Neoplasm semapv:UnspecifiedMatching MONDO:0005447 testicular cancer skos:exactMatch SCTID:363449006 semapv:UnspecifiedMatching MONDO:0005447 testicular cancer skos:exactMatch UMLS:C0153594 semapv:UnspecifiedMatching MONDO:0005447 testicular cancer skos:exactMatch mesh:D013736 semapv:UnspecifiedMatching MONDO:0005448 hepatitis C induced liver cirrhosis skos:exactMatch EFO:0005129 semapv:UnspecifiedMatching MONDO:0005448 hepatitis C induced liver cirrhosis skos:exactMatch MEDGEN:1674707 semapv:UnspecifiedMatching MONDO:0005448 hepatitis C induced liver cirrhosis skos:exactMatch UMLS:C4763867 semapv:UnspecifiedMatching MONDO:0005449 conduction system disorder skos:exactMatch EFO:0005137 semapv:UnspecifiedMatching MONDO:0005449 conduction system disorder skos:exactMatch MEDGEN:412576 semapv:UnspecifiedMatching MONDO:0005449 conduction system disorder skos:exactMatch UMLS:C2748542 semapv:UnspecifiedMatching MONDO:0005451 eating disorder skos:exactMatch DOID:8670 eating disorder semapv:UnspecifiedMatching MONDO:0005451 eating disorder skos:exactMatch EFO:0005203 semapv:UnspecifiedMatching MONDO:0005451 eating disorder skos:exactMatch MEDGEN:4434 semapv:UnspecifiedMatching MONDO:0005451 eating disorder skos:exactMatch NCIT:C89332 Eating Disorder semapv:UnspecifiedMatching MONDO:0005451 eating disorder skos:exactMatch SCTID:72366004 semapv:UnspecifiedMatching MONDO:0005451 eating disorder skos:exactMatch UMLS:C0013473 semapv:UnspecifiedMatching MONDO:0005452 bulimia nervosa skos:exactMatch DOID:12129 bulimia nervosa semapv:UnspecifiedMatching MONDO:0005452 bulimia nervosa skos:exactMatch EFO:0005204 semapv:UnspecifiedMatching MONDO:0005452 bulimia nervosa skos:exactMatch ICD10CM:F50.2 Bulimia nervosa semapv:UnspecifiedMatching MONDO:0005452 bulimia nervosa skos:exactMatch MEDGEN:389218 semapv:UnspecifiedMatching MONDO:0005452 bulimia nervosa skos:exactMatch NCIT:C34440 Bulimia Nervosa semapv:UnspecifiedMatching MONDO:0005452 bulimia nervosa skos:exactMatch SCTID:78004001 semapv:UnspecifiedMatching MONDO:0005452 bulimia nervosa skos:exactMatch UMLS:C2267227 semapv:UnspecifiedMatching MONDO:0005452 bulimia nervosa skos:exactMatch icd11.foundation:509381842 Bulimia Nervosa semapv:UnspecifiedMatching MONDO:0005452 bulimia nervosa skos:exactMatch mesh:D052018 semapv:UnspecifiedMatching MONDO:0005453 congenital heart disease skos:exactMatch DOID:1682 congenital heart disease semapv:UnspecifiedMatching MONDO:0005453 congenital heart disease skos:exactMatch EFO:0005207 semapv:UnspecifiedMatching MONDO:0005453 congenital heart disease skos:exactMatch MEDGEN:57501 semapv:UnspecifiedMatching MONDO:0005453 congenital heart disease skos:exactMatch NCIT:C95834 Congenital Heart Disease semapv:UnspecifiedMatching MONDO:0005453 congenital heart disease skos:exactMatch SCTID:13213009 semapv:UnspecifiedMatching MONDO:0005453 congenital heart disease skos:exactMatch UMLS:C0152021 semapv:UnspecifiedMatching MONDO:0005453 congenital heart disease skos:exactMatch icd11.foundation:2004408087 Structural developmental anomaly of heart or great vessels semapv:UnspecifiedMatching MONDO:0005453 congenital heart disease skos:exactMatch mesh:D006330 semapv:UnspecifiedMatching MONDO:0005454 lung neuroendocrine neoplasm skos:exactMatch DOID:5410 pulmonary neuroendocrine tumor semapv:UnspecifiedMatching MONDO:0005454 lung neuroendocrine neoplasm skos:exactMatch EFO:0005220 semapv:UnspecifiedMatching MONDO:0005454 lung neuroendocrine neoplasm skos:exactMatch MEDGEN:277303 semapv:UnspecifiedMatching MONDO:0005454 lung neuroendocrine neoplasm skos:exactMatch NCIT:C5670 Lung Neuroendocrine Neoplasm semapv:UnspecifiedMatching MONDO:0005454 lung neuroendocrine neoplasm skos:exactMatch SCTID:707594002 semapv:UnspecifiedMatching MONDO:0005454 lung neuroendocrine neoplasm skos:exactMatch UMLS:C1334452 semapv:UnspecifiedMatching MONDO:0005459 human African trypanosomiasis skos:exactMatch DOID:10112 sleeping sickness semapv:UnspecifiedMatching MONDO:0005459 human African trypanosomiasis skos:exactMatch EFO:0005225 semapv:UnspecifiedMatching MONDO:0005459 human African trypanosomiasis skos:exactMatch MEDGEN:21714 semapv:UnspecifiedMatching MONDO:0005459 human African trypanosomiasis skos:exactMatch NCIT:C84541 African Trypanosomiasis semapv:UnspecifiedMatching MONDO:0005459 human African trypanosomiasis skos:exactMatch Orphanet:3385 African trypanosomiasis semapv:UnspecifiedMatching MONDO:0005459 human African trypanosomiasis skos:exactMatch SCTID:27031003 semapv:UnspecifiedMatching MONDO:0005459 human African trypanosomiasis skos:exactMatch UMLS:C0041228 semapv:UnspecifiedMatching MONDO:0005460 swine influenza skos:exactMatch DOID:0050211 swine influenza semapv:UnspecifiedMatching MONDO:0005460 swine influenza skos:exactMatch EFO:0005226 semapv:UnspecifiedMatching MONDO:0005460 swine influenza skos:exactMatch MEDGEN:1385137 semapv:UnspecifiedMatching MONDO:0005460 swine influenza skos:exactMatch NCIT:C80444 H1N1 Influenza semapv:UnspecifiedMatching MONDO:0005460 swine influenza skos:exactMatch SCTID:442696006 semapv:UnspecifiedMatching MONDO:0005460 swine influenza skos:exactMatch UMLS:C0276357 semapv:UnspecifiedMatching MONDO:0005461 endometrium adenocarcinoma skos:exactMatch DOID:2870 endometrial adenocarcinoma semapv:UnspecifiedMatching MONDO:0005461 endometrium adenocarcinoma skos:exactMatch EFO:0005232 semapv:UnspecifiedMatching MONDO:0005461 endometrium adenocarcinoma skos:exactMatch MEDGEN:218862 semapv:UnspecifiedMatching MONDO:0005461 endometrium adenocarcinoma skos:exactMatch NCIT:C7359 Endometrial Adenocarcinoma semapv:UnspecifiedMatching MONDO:0005461 endometrium adenocarcinoma skos:exactMatch UMLS:C1153706 semapv:UnspecifiedMatching MONDO:0005462 primitive neuroectodermal tumor skos:exactMatch DOID:171 neuroectodermal tumor semapv:UnspecifiedMatching MONDO:0005462 primitive neuroectodermal tumor skos:exactMatch EFO:0005235 semapv:UnspecifiedMatching MONDO:0005462 primitive neuroectodermal tumor skos:exactMatch MEDGEN:64627 semapv:UnspecifiedMatching MONDO:0005462 primitive neuroectodermal tumor skos:exactMatch NCIT:C3716 Primitive Neuroectodermal Tumor semapv:UnspecifiedMatching MONDO:0005462 primitive neuroectodermal tumor skos:exactMatch UMLS:C0206663 semapv:UnspecifiedMatching MONDO:0005462 primitive neuroectodermal tumor skos:exactMatch mesh:D017599 semapv:UnspecifiedMatching MONDO:0005463 aortic valve calcification skos:exactMatch EFO:0005239 semapv:UnspecifiedMatching MONDO:0005463 aortic valve calcification skos:exactMatch MEDGEN:140899 semapv:UnspecifiedMatching MONDO:0005463 aortic valve calcification skos:exactMatch SCTID:250978003 semapv:UnspecifiedMatching MONDO:0005463 aortic valve calcification skos:exactMatch UMLS:C0428791 semapv:UnspecifiedMatching MONDO:0005464 rhegmatogenous retinal detachment skos:exactMatch EFO:0005240 semapv:UnspecifiedMatching MONDO:0005464 rhegmatogenous retinal detachment skos:exactMatch ICD10CM:H33.0 Retinal detachment with retinal break semapv:UnspecifiedMatching MONDO:0005464 rhegmatogenous retinal detachment skos:exactMatch MEDGEN:489829 semapv:UnspecifiedMatching MONDO:0005464 rhegmatogenous retinal detachment skos:exactMatch NCIT:C118755 Rhegmatogenous Retinal Detachment semapv:UnspecifiedMatching MONDO:0005464 rhegmatogenous retinal detachment skos:exactMatch SCTID:19620000 semapv:UnspecifiedMatching MONDO:0005464 rhegmatogenous retinal detachment skos:exactMatch UMLS:C0271055 semapv:UnspecifiedMatching MONDO:0005465 methamphetamine-induced psychosis skos:exactMatch EFO:0005242 semapv:UnspecifiedMatching MONDO:0005466 hypersomnia skos:exactMatch EFO:0005246 semapv:UnspecifiedMatching MONDO:0005466 hypersomnia skos:exactMatch ICD10CM:G47.1 Hypersomnia semapv:UnspecifiedMatching MONDO:0005466 hypersomnia skos:exactMatch MEDGEN:214588 semapv:UnspecifiedMatching MONDO:0005466 hypersomnia skos:exactMatch NCIT:C78346 Hypersomnia semapv:UnspecifiedMatching MONDO:0005466 hypersomnia skos:exactMatch SCTID:77692006 semapv:UnspecifiedMatching MONDO:0005466 hypersomnia skos:exactMatch UMLS:C0917799 semapv:UnspecifiedMatching MONDO:0005467 occupation-related stress disorder skos:exactMatch MEDGEN:636163 semapv:UnspecifiedMatching MONDO:0005467 occupation-related stress disorder skos:exactMatch SCTID:10586006 semapv:UnspecifiedMatching MONDO:0005467 occupation-related stress disorder skos:exactMatch UMLS:C0520683 semapv:UnspecifiedMatching MONDO:0005468 hypotensive disorder skos:exactMatch EFO:0005251 semapv:UnspecifiedMatching MONDO:0005468 hypotensive disorder skos:exactMatch ICD10CM:I95 Hypotension semapv:UnspecifiedMatching MONDO:0005468 hypotensive disorder skos:exactMatch MEDGEN:5715 semapv:UnspecifiedMatching MONDO:0005468 hypotensive disorder skos:exactMatch SCTID:45007003 semapv:UnspecifiedMatching MONDO:0005468 hypotensive disorder skos:exactMatch UMLS:C0020649 semapv:UnspecifiedMatching MONDO:0005468 hypotensive disorder skos:exactMatch icd11.foundation:1663360295 Hypotension semapv:UnspecifiedMatching MONDO:0005468 hypotensive disorder skos:exactMatch mesh:D007022 semapv:UnspecifiedMatching MONDO:0005469 orthostatic hypotension skos:exactMatch EFO:0005252 semapv:UnspecifiedMatching MONDO:0005469 orthostatic hypotension skos:exactMatch ICD10CM:I95.1 Orthostatic hypotension semapv:UnspecifiedMatching MONDO:0005469 orthostatic hypotension skos:exactMatch MEDGEN:43803 semapv:UnspecifiedMatching MONDO:0005469 orthostatic hypotension skos:exactMatch SCTID:28651003 semapv:UnspecifiedMatching MONDO:0005469 orthostatic hypotension skos:exactMatch UMLS:C0020651 semapv:UnspecifiedMatching MONDO:0005469 orthostatic hypotension skos:exactMatch icd11.foundation:56009591 Orthostatic hypotension semapv:UnspecifiedMatching MONDO:0005473 temporomandibular joint disorder skos:exactMatch EFO:0005279 semapv:UnspecifiedMatching MONDO:0005473 temporomandibular joint disorder skos:exactMatch MEDGEN:21092 semapv:UnspecifiedMatching MONDO:0005473 temporomandibular joint disorder skos:exactMatch NCIT:C63709 Temporomandibular Joint Disorder semapv:UnspecifiedMatching MONDO:0005473 temporomandibular joint disorder skos:exactMatch SCTID:41888000 semapv:UnspecifiedMatching MONDO:0005473 temporomandibular joint disorder skos:exactMatch UMLS:C0039494 semapv:UnspecifiedMatching MONDO:0005473 temporomandibular joint disorder skos:exactMatch mesh:D013705 semapv:UnspecifiedMatching MONDO:0005475 migraine with aura skos:exactMatch DOID:10024 migraine with aura semapv:UnspecifiedMatching MONDO:0005475 migraine with aura skos:exactMatch ICD10CM:G43.1 Migraine with aura semapv:UnspecifiedMatching MONDO:0005475 migraine with aura skos:exactMatch MEDGEN:57822 semapv:UnspecifiedMatching MONDO:0005475 migraine with aura skos:exactMatch NCIT:C117005 Migraine With Aura semapv:UnspecifiedMatching MONDO:0005475 migraine with aura skos:exactMatch SCTID:4473006 semapv:UnspecifiedMatching MONDO:0005475 migraine with aura skos:exactMatch UMLS:C0154723 semapv:UnspecifiedMatching MONDO:0005475 migraine with aura skos:exactMatch icd11.foundation:525744634 Migraine with aura semapv:UnspecifiedMatching MONDO:0005475 migraine with aura skos:exactMatch mesh:D020325 semapv:UnspecifiedMatching MONDO:0005476 atrioventricular node disorder skos:exactMatch EFO:0005305 semapv:UnspecifiedMatching MONDO:0005476 atrioventricular node disorder skos:exactMatch MEDGEN:477944 semapv:UnspecifiedMatching MONDO:0005476 atrioventricular node disorder skos:exactMatch UMLS:C3276314 semapv:UnspecifiedMatching MONDO:0005477 ventricular tachycardia skos:exactMatch EFO:0005306 semapv:UnspecifiedMatching MONDO:0005477 ventricular tachycardia skos:exactMatch ICD10CM:I47.2 Ventricular tachycardia semapv:UnspecifiedMatching MONDO:0005477 ventricular tachycardia skos:exactMatch MEDGEN:12068 semapv:UnspecifiedMatching MONDO:0005477 ventricular tachycardia skos:exactMatch NCIT:C50802 Ventricular Tachycardia semapv:UnspecifiedMatching MONDO:0005477 ventricular tachycardia skos:exactMatch SCTID:25569003 semapv:UnspecifiedMatching MONDO:0005477 ventricular tachycardia skos:exactMatch UMLS:C0042514 semapv:UnspecifiedMatching MONDO:0005477 ventricular tachycardia skos:exactMatch icd11.foundation:1171837620 Ventricular tachycardia semapv:UnspecifiedMatching MONDO:0005477 ventricular tachycardia skos:exactMatch mesh:D017180 semapv:UnspecifiedMatching MONDO:0005478 torsades de pointes skos:exactMatch EFO:0005307 semapv:UnspecifiedMatching MONDO:0005478 torsades de pointes skos:exactMatch MEDGEN:21214 semapv:UnspecifiedMatching MONDO:0005478 torsades de pointes skos:exactMatch SCTID:31722008 semapv:UnspecifiedMatching MONDO:0005478 torsades de pointes skos:exactMatch UMLS:C0040479 semapv:UnspecifiedMatching MONDO:0005478 torsades de pointes skos:exactMatch mesh:D016171 semapv:UnspecifiedMatching MONDO:0005479 atrial tachycardia skos:exactMatch EFO:0005308 semapv:UnspecifiedMatching MONDO:0005479 atrial tachycardia skos:exactMatch MEDGEN:107485 semapv:UnspecifiedMatching MONDO:0005479 atrial tachycardia skos:exactMatch NCIT:C35481 Atrial Tachycardia semapv:UnspecifiedMatching MONDO:0005479 atrial tachycardia skos:exactMatch SCTID:276796006 semapv:UnspecifiedMatching MONDO:0005479 atrial tachycardia skos:exactMatch UMLS:C0546959 semapv:UnspecifiedMatching MONDO:0005480 contact dermatitis skos:exactMatch DOID:2773 contact dermatitis semapv:UnspecifiedMatching MONDO:0005480 contact dermatitis skos:exactMatch EFO:0005319 semapv:UnspecifiedMatching MONDO:0005480 contact dermatitis skos:exactMatch MEDGEN:8329 semapv:UnspecifiedMatching MONDO:0005480 contact dermatitis skos:exactMatch NCIT:C26743 Contact Dermatitis semapv:UnspecifiedMatching MONDO:0005480 contact dermatitis skos:exactMatch SCTID:40275004 semapv:UnspecifiedMatching MONDO:0005480 contact dermatitis skos:exactMatch UMLS:C0011616 semapv:UnspecifiedMatching MONDO:0005480 contact dermatitis skos:exactMatch mesh:D003877 semapv:UnspecifiedMatching MONDO:0005481 contact dermatitis due to nickel skos:exactMatch MEDGEN:671387 semapv:UnspecifiedMatching MONDO:0005481 contact dermatitis due to nickel skos:exactMatch SCTID:93419003 semapv:UnspecifiedMatching MONDO:0005481 contact dermatitis due to nickel skos:exactMatch UMLS:C0684345 semapv:UnspecifiedMatching MONDO:0005482 obsolete molar-incisor hypomineralization skos:exactMatch SCTID:698053001 semapv:UnspecifiedMatching MONDO:0005483 chemotherapy-induced alopecia skos:exactMatch EFO:0005400 semapv:UnspecifiedMatching MONDO:0005483 chemotherapy-induced alopecia skos:exactMatch MEDGEN:1720394 semapv:UnspecifiedMatching MONDO:0005483 chemotherapy-induced alopecia skos:exactMatch NCIT:C164162 Chemotherapy-Induced Alopecia semapv:UnspecifiedMatching MONDO:0005483 chemotherapy-induced alopecia skos:exactMatch UMLS:C5236021 semapv:UnspecifiedMatching MONDO:0005484 colorectal adenoma skos:exactMatch DOID:0050860 colorectal adenoma semapv:UnspecifiedMatching MONDO:0005484 colorectal adenoma skos:exactMatch DOID:0050914 large intestine adenoma semapv:UnspecifiedMatching MONDO:0005484 colorectal adenoma skos:exactMatch EFO:0005406 semapv:UnspecifiedMatching MONDO:0005484 colorectal adenoma skos:exactMatch MEDGEN:224904 semapv:UnspecifiedMatching MONDO:0005484 colorectal adenoma skos:exactMatch NCIT:C5673 Colorectal Adenoma semapv:UnspecifiedMatching MONDO:0005484 colorectal adenoma skos:exactMatch SCTID:399432003 semapv:UnspecifiedMatching MONDO:0005484 colorectal adenoma skos:exactMatch UMLS:C1302401 semapv:UnspecifiedMatching MONDO:0005485 psychotic disorder skos:exactMatch DOID:2468 psychotic disorder semapv:UnspecifiedMatching MONDO:0005485 psychotic disorder skos:exactMatch EFO:0005407 semapv:UnspecifiedMatching MONDO:0005485 psychotic disorder skos:exactMatch MEDGEN:19568 semapv:UnspecifiedMatching MONDO:0005485 psychotic disorder skos:exactMatch NCIT:C78576 Psychosis semapv:UnspecifiedMatching MONDO:0005485 psychotic disorder skos:exactMatch SCTID:69322001 semapv:UnspecifiedMatching MONDO:0005485 psychotic disorder skos:exactMatch UMLS:C0033975 semapv:UnspecifiedMatching MONDO:0005486 tooth agenesis skos:exactMatch DOID:0050591 tooth agenesis semapv:UnspecifiedMatching MONDO:0005486 tooth agenesis skos:exactMatch EFO:0005410 semapv:UnspecifiedMatching MONDO:0005486 tooth agenesis skos:exactMatch ICD10CM:K00.0 Anodontia semapv:UnspecifiedMatching MONDO:0005486 tooth agenesis skos:exactMatch MEDGEN:43794 semapv:UnspecifiedMatching MONDO:0005486 tooth agenesis skos:exactMatch OMIMPS:106600 Tooth agenesis, selective semapv:UnspecifiedMatching MONDO:0005486 tooth agenesis skos:exactMatch Orphanet:99798 Oligodontia semapv:UnspecifiedMatching MONDO:0005486 tooth agenesis skos:exactMatch SCTID:64969001 semapv:UnspecifiedMatching MONDO:0005486 tooth agenesis skos:exactMatch UMLS:C0020608 semapv:UnspecifiedMatching MONDO:0005486 tooth agenesis skos:exactMatch icd11.foundation:1559717619 Oligodontia semapv:UnspecifiedMatching MONDO:0005487 schizoaffective disorder skos:exactMatch DOID:5418 schizoaffective disorder semapv:UnspecifiedMatching MONDO:0005487 schizoaffective disorder skos:exactMatch EFO:0005411 semapv:UnspecifiedMatching MONDO:0005487 schizoaffective disorder skos:exactMatch MEDGEN:11334 semapv:UnspecifiedMatching MONDO:0005487 schizoaffective disorder skos:exactMatch NCIT:C94378 Schizoaffective Disorder semapv:UnspecifiedMatching MONDO:0005487 schizoaffective disorder skos:exactMatch UMLS:C0036337 semapv:UnspecifiedMatching MONDO:0005487 schizoaffective disorder skos:exactMatch icd11.foundation:106339515 Schizoaffective disorder semapv:UnspecifiedMatching MONDO:0005488 adolescent idiopathic scoliosis skos:exactMatch EFO:0005423 semapv:UnspecifiedMatching MONDO:0005488 adolescent idiopathic scoliosis skos:exactMatch MEDGEN:450543 semapv:UnspecifiedMatching MONDO:0005488 adolescent idiopathic scoliosis skos:exactMatch SCTID:203646004 semapv:UnspecifiedMatching MONDO:0005488 adolescent idiopathic scoliosis skos:exactMatch UMLS:C0410702 semapv:UnspecifiedMatching MONDO:0005489 dyslexia skos:exactMatch DOID:4428 dyslexia semapv:UnspecifiedMatching MONDO:0005489 dyslexia skos:exactMatch EFO:0005424 semapv:UnspecifiedMatching MONDO:0005489 dyslexia skos:exactMatch MEDGEN:96906 semapv:UnspecifiedMatching MONDO:0005489 dyslexia skos:exactMatch NCIT:C96410 Dyslexia semapv:UnspecifiedMatching MONDO:0005489 dyslexia skos:exactMatch UMLS:C0476254 semapv:UnspecifiedMatching MONDO:0005489 dyslexia skos:exactMatch icd11.foundation:1843588689 Dyslexia semapv:UnspecifiedMatching MONDO:0005489 dyslexia skos:exactMatch mesh:D004410 semapv:UnspecifiedMatching MONDO:0005490 large artery stroke skos:exactMatch EFO:0005524 semapv:UnspecifiedMatching MONDO:0005491 Chagas cardiomyopathy skos:exactMatch EFO:0005529 semapv:UnspecifiedMatching MONDO:0005491 Chagas cardiomyopathy skos:exactMatch MEDGEN:868 semapv:UnspecifiedMatching MONDO:0005491 Chagas cardiomyopathy skos:exactMatch SCTID:998008 semapv:UnspecifiedMatching MONDO:0005491 Chagas cardiomyopathy skos:exactMatch UMLS:C0007930 semapv:UnspecifiedMatching MONDO:0005491 Chagas cardiomyopathy skos:exactMatch mesh:D002598 semapv:UnspecifiedMatching MONDO:0005492 urticaria skos:exactMatch DOID:1555 urticaria semapv:UnspecifiedMatching MONDO:0005492 urticaria skos:exactMatch EFO:0005531 semapv:UnspecifiedMatching MONDO:0005492 urticaria skos:exactMatch ICD10CM:L50 Urticaria semapv:UnspecifiedMatching MONDO:0005492 urticaria skos:exactMatch ICD10WHO:L50 Urticaria semapv:UnspecifiedMatching MONDO:0005492 urticaria skos:exactMatch MEDGEN:22587 semapv:UnspecifiedMatching MONDO:0005492 urticaria skos:exactMatch NCIT:C3432 Urticaria semapv:UnspecifiedMatching MONDO:0005492 urticaria skos:exactMatch SCTID:126485001 semapv:UnspecifiedMatching MONDO:0005492 urticaria skos:exactMatch UMLS:C0042109 semapv:UnspecifiedMatching MONDO:0005492 urticaria skos:exactMatch mesh:D014581 semapv:UnspecifiedMatching MONDO:0005494 triple-negative breast carcinoma skos:exactMatch DOID:0060081 triple-receptor negative breast cancer semapv:UnspecifiedMatching MONDO:0005494 triple-negative breast carcinoma skos:exactMatch EFO:0005537 semapv:UnspecifiedMatching MONDO:0005494 triple-negative breast carcinoma skos:exactMatch MEDGEN:1649548 semapv:UnspecifiedMatching MONDO:0005494 triple-negative breast carcinoma skos:exactMatch NCIT:C71732 Triple-Negative Breast Carcinoma semapv:UnspecifiedMatching MONDO:0005494 triple-negative breast carcinoma skos:exactMatch SCTID:706970001 semapv:UnspecifiedMatching MONDO:0005494 triple-negative breast carcinoma skos:exactMatch UMLS:C4722518 semapv:UnspecifiedMatching MONDO:0005494 triple-negative breast carcinoma skos:exactMatch mesh:D064726 semapv:UnspecifiedMatching MONDO:0005495 adrenal gland disorder skos:exactMatch DOID:9553 adrenal gland disease semapv:UnspecifiedMatching MONDO:0005495 adrenal gland disorder skos:exactMatch EFO:0005539 semapv:UnspecifiedMatching MONDO:0005495 adrenal gland disorder skos:exactMatch MEDGEN:892577 semapv:UnspecifiedMatching MONDO:0005495 adrenal gland disorder skos:exactMatch NCIT:C26690 Adrenal Gland Disorder semapv:UnspecifiedMatching MONDO:0005495 adrenal gland disorder skos:exactMatch SCTID:30171000 semapv:UnspecifiedMatching MONDO:0005495 adrenal gland disorder skos:exactMatch UMLS:C4021794 semapv:UnspecifiedMatching MONDO:0005495 adrenal gland disorder skos:exactMatch mesh:D000307 semapv:UnspecifiedMatching MONDO:0005496 bile duct carcinoma skos:exactMatch DOID:4897 bile duct carcinoma semapv:UnspecifiedMatching MONDO:0005496 bile duct carcinoma skos:exactMatch EFO:0005540 semapv:UnspecifiedMatching MONDO:0005496 bile duct carcinoma skos:exactMatch MEDGEN:152840 semapv:UnspecifiedMatching MONDO:0005496 bile duct carcinoma skos:exactMatch NCIT:C27814 Bile Duct Carcinoma semapv:UnspecifiedMatching MONDO:0005496 bile duct carcinoma skos:exactMatch UMLS:C0740277 semapv:UnspecifiedMatching MONDO:0005497 bone development disease skos:exactMatch DOID:0080006 bone development disease semapv:UnspecifiedMatching MONDO:0005497 bone development disease skos:exactMatch EFO:0005541 semapv:UnspecifiedMatching MONDO:0005497 bone development disease skos:exactMatch MEDGEN:2309 semapv:UnspecifiedMatching MONDO:0005497 bone development disease skos:exactMatch SCTID:371521007 semapv:UnspecifiedMatching MONDO:0005497 bone development disease skos:exactMatch UMLS:C0005941 semapv:UnspecifiedMatching MONDO:0005498 botulism skos:exactMatch DOID:11976 botulism semapv:UnspecifiedMatching MONDO:0005498 botulism skos:exactMatch EFO:0005542 semapv:UnspecifiedMatching MONDO:0005498 botulism skos:exactMatch MEDGEN:14204 semapv:UnspecifiedMatching MONDO:0005498 botulism skos:exactMatch NCIT:C84599 Botulism semapv:UnspecifiedMatching MONDO:0005498 botulism skos:exactMatch Orphanet:1267 Botulism semapv:UnspecifiedMatching MONDO:0005498 botulism skos:exactMatch SCTID:398565003 semapv:UnspecifiedMatching MONDO:0005498 botulism skos:exactMatch UMLS:C0006057 semapv:UnspecifiedMatching MONDO:0005498 botulism skos:exactMatch icd11.foundation:78422942 Botulism semapv:UnspecifiedMatching MONDO:0005498 botulism skos:exactMatch mesh:D001906 semapv:UnspecifiedMatching MONDO:0005499 brain glioma skos:exactMatch DOID:0060108 brain glioma semapv:UnspecifiedMatching MONDO:0005499 brain glioma skos:exactMatch MEDGEN:91163 semapv:UnspecifiedMatching MONDO:0005499 brain glioma skos:exactMatch NCIT:C162993 Malignant Brain Glioma semapv:UnspecifiedMatching MONDO:0005499 brain glioma skos:exactMatch SCTID:254937005 semapv:UnspecifiedMatching MONDO:0005499 brain glioma skos:exactMatch UMLS:C0349661 semapv:UnspecifiedMatching MONDO:0005500 congenital disorder of glycosylation type I skos:exactMatch DOID:0050570 congenital disorder of glycosylation type I semapv:UnspecifiedMatching MONDO:0005500 congenital disorder of glycosylation type I skos:exactMatch EFO:0005545 semapv:UnspecifiedMatching MONDO:0005500 congenital disorder of glycosylation type I skos:exactMatch MEDGEN:1684618 semapv:UnspecifiedMatching MONDO:0005500 congenital disorder of glycosylation type I skos:exactMatch OMIMPS:212065 Congenital disorders of glycosylation, type I semapv:UnspecifiedMatching MONDO:0005500 congenital disorder of glycosylation type I skos:exactMatch UMLS:C4700504 semapv:UnspecifiedMatching MONDO:0005501 congenital disorder of glycosylation type II skos:exactMatch DOID:0050571 congenital disorder of glycosylation type II semapv:UnspecifiedMatching MONDO:0005501 congenital disorder of glycosylation type II skos:exactMatch EFO:0005546 semapv:UnspecifiedMatching MONDO:0005501 congenital disorder of glycosylation type II skos:exactMatch MEDGEN:1812737 semapv:UnspecifiedMatching MONDO:0005501 congenital disorder of glycosylation type II skos:exactMatch OMIMPS:212066 Congenital disorders of glycosylation, type II semapv:UnspecifiedMatching MONDO:0005501 congenital disorder of glycosylation type II skos:exactMatch UMLS:C5574948 semapv:UnspecifiedMatching MONDO:0005501 congenital disorder of glycosylation type II skos:exactMatch mesh:C535747 semapv:UnspecifiedMatching MONDO:0005502 dengue disease skos:exactMatch DOID:12205 dengue disease semapv:UnspecifiedMatching MONDO:0005502 dengue disease skos:exactMatch EFO:0005547 semapv:UnspecifiedMatching MONDO:0005502 dengue disease skos:exactMatch ICD10CM:A90 Dengue fever [classical dengue] semapv:UnspecifiedMatching MONDO:0005502 dengue disease skos:exactMatch MEDGEN:3721 semapv:UnspecifiedMatching MONDO:0005502 dengue disease skos:exactMatch NCIT:C34528 Dengue Fever semapv:UnspecifiedMatching MONDO:0005502 dengue disease skos:exactMatch Orphanet:99828 Dengue fever semapv:UnspecifiedMatching MONDO:0005502 dengue disease skos:exactMatch SCTID:38362002 semapv:UnspecifiedMatching MONDO:0005502 dengue disease skos:exactMatch UMLS:C0011311 semapv:UnspecifiedMatching MONDO:0005502 dengue disease skos:exactMatch mesh:D003715 semapv:UnspecifiedMatching MONDO:0005503 developmental disorder of mental health skos:exactMatch DOID:0060037 developmental disorder of mental health semapv:UnspecifiedMatching MONDO:0005503 developmental disorder of mental health skos:exactMatch EFO:0005548 semapv:UnspecifiedMatching MONDO:0005503 developmental disorder of mental health skos:exactMatch MEDGEN:688110 semapv:UnspecifiedMatching MONDO:0005503 developmental disorder of mental health skos:exactMatch SCTID:129104009 semapv:UnspecifiedMatching MONDO:0005503 developmental disorder of mental health skos:exactMatch UMLS:C1263839 semapv:UnspecifiedMatching MONDO:0005504 diphtheria skos:exactMatch DOID:11405 diphtheria semapv:UnspecifiedMatching MONDO:0005504 diphtheria skos:exactMatch EFO:0005549 semapv:UnspecifiedMatching MONDO:0005504 diphtheria skos:exactMatch ICD10CM:A36 Diphtheria semapv:UnspecifiedMatching MONDO:0005504 diphtheria skos:exactMatch ICD10WHO:A36 Diphtheria semapv:UnspecifiedMatching MONDO:0005504 diphtheria skos:exactMatch MEDGEN:4334 semapv:UnspecifiedMatching MONDO:0005504 diphtheria skos:exactMatch NCIT:C34541 Diphtheria semapv:UnspecifiedMatching MONDO:0005504 diphtheria skos:exactMatch Orphanet:1679 Diphtheria semapv:UnspecifiedMatching MONDO:0005504 diphtheria skos:exactMatch SCTID:397428000 semapv:UnspecifiedMatching MONDO:0005504 diphtheria skos:exactMatch UMLS:C0012546 semapv:UnspecifiedMatching MONDO:0005504 diphtheria skos:exactMatch icd11.foundation:508032285 Diphtheria semapv:UnspecifiedMatching MONDO:0005504 diphtheria skos:exactMatch mesh:D004165 semapv:UnspecifiedMatching MONDO:0005505 dysembryoplastic neuroepithelial tumor skos:exactMatch DOID:2679 dysembryoplastic neuroepithelial tumor semapv:UnspecifiedMatching MONDO:0005505 dysembryoplastic neuroepithelial tumor skos:exactMatch EFO:0005551 semapv:UnspecifiedMatching MONDO:0005505 dysembryoplastic neuroepithelial tumor skos:exactMatch MEDGEN:266109 semapv:UnspecifiedMatching MONDO:0005505 dysembryoplastic neuroepithelial tumor skos:exactMatch NCIT:C9505 Dysembryoplastic Neuroepithelial Tumor semapv:UnspecifiedMatching MONDO:0005505 dysembryoplastic neuroepithelial tumor skos:exactMatch Orphanet:251946 Dysembryoplastic neuroepithelial tumor semapv:UnspecifiedMatching MONDO:0005505 dysembryoplastic neuroepithelial tumor skos:exactMatch SCTID:87211000119104 semapv:UnspecifiedMatching MONDO:0005505 dysembryoplastic neuroepithelial tumor skos:exactMatch UMLS:C1266177 semapv:UnspecifiedMatching MONDO:0005506 eccrine sweat gland cancer skos:exactMatch DOID:4921 eccrine sweat gland cancer semapv:UnspecifiedMatching MONDO:0005506 eccrine sweat gland cancer skos:exactMatch MEDGEN:233660 semapv:UnspecifiedMatching MONDO:0005506 eccrine sweat gland cancer skos:exactMatch NCIT:C5559 Malignant Eccrine Neoplasm semapv:UnspecifiedMatching MONDO:0005506 eccrine sweat gland cancer skos:exactMatch UMLS:C1334577 semapv:UnspecifiedMatching MONDO:0005507 gingival cancer skos:exactMatch DOID:8602 gum cancer semapv:UnspecifiedMatching MONDO:0005507 gingival cancer skos:exactMatch EFO:0005557 semapv:UnspecifiedMatching MONDO:0005507 gingival cancer skos:exactMatch ICD10CM:C03 Malignant neoplasm of gum semapv:UnspecifiedMatching MONDO:0005507 gingival cancer skos:exactMatch MEDGEN:57549 semapv:UnspecifiedMatching MONDO:0005507 gingival cancer skos:exactMatch NCIT:C9317 Malignant Gingival Neoplasm semapv:UnspecifiedMatching MONDO:0005507 gingival cancer skos:exactMatch SCTID:363382005 semapv:UnspecifiedMatching MONDO:0005507 gingival cancer skos:exactMatch UMLS:C0153364 semapv:UnspecifiedMatching MONDO:0005507 gingival cancer skos:exactMatch icd11.foundation:1719710858 Malignant neoplasms of gum semapv:UnspecifiedMatching MONDO:0005508 hereditary multiple osteochondromas skos:exactMatch DOID:206 hereditary multiple exostoses semapv:UnspecifiedMatching MONDO:0005508 hereditary multiple osteochondromas skos:exactMatch MEDGEN:4612 semapv:UnspecifiedMatching MONDO:0005508 hereditary multiple osteochondromas skos:exactMatch NCIT:C5183 Hereditary Multiple Exostoses semapv:UnspecifiedMatching MONDO:0005508 hereditary multiple osteochondromas skos:exactMatch OMIMPS:133700 Exostoses, multiple semapv:UnspecifiedMatching MONDO:0005508 hereditary multiple osteochondromas skos:exactMatch Orphanet:321 Multiple osteochondromas semapv:UnspecifiedMatching MONDO:0005508 hereditary multiple osteochondromas skos:exactMatch SCTID:254044004 semapv:UnspecifiedMatching MONDO:0005508 hereditary multiple osteochondromas skos:exactMatch SCTID:716742001 semapv:UnspecifiedMatching MONDO:0005508 hereditary multiple osteochondromas skos:exactMatch UMLS:C0015306 semapv:UnspecifiedMatching MONDO:0005508 hereditary multiple osteochondromas skos:exactMatch icd11.foundation:146330302 Osteochondromatosis syndrome semapv:UnspecifiedMatching MONDO:0005508 hereditary multiple osteochondromas skos:exactMatch icd11.foundation:1578364807 Multiple osteochondromas semapv:UnspecifiedMatching MONDO:0005508 hereditary multiple osteochondromas skos:exactMatch mesh:D005097 semapv:UnspecifiedMatching MONDO:0005509 histiocytoma skos:exactMatch DOID:4231 histiocytoma semapv:UnspecifiedMatching MONDO:0005509 histiocytoma skos:exactMatch EFO:0005561 semapv:UnspecifiedMatching MONDO:0005509 histiocytoma skos:exactMatch MEDGEN:267592 semapv:UnspecifiedMatching MONDO:0005509 histiocytoma skos:exactMatch NCIT:C35765 Histiocytoma semapv:UnspecifiedMatching MONDO:0005509 histiocytoma skos:exactMatch UMLS:C1509147 semapv:UnspecifiedMatching MONDO:0005509 histiocytoma skos:exactMatch icd11.foundation:1211753554 Histiocytoma semapv:UnspecifiedMatching MONDO:0005509 histiocytoma skos:exactMatch mesh:D051642 semapv:UnspecifiedMatching MONDO:0005510 hydronephrosis skos:exactMatch DOID:11111 hydronephrosis semapv:UnspecifiedMatching MONDO:0005510 hydronephrosis skos:exactMatch EFO:0005562 semapv:UnspecifiedMatching MONDO:0005510 hydronephrosis skos:exactMatch MEDGEN:42531 semapv:UnspecifiedMatching MONDO:0005510 hydronephrosis skos:exactMatch NCIT:C26796 Hydronephrosis semapv:UnspecifiedMatching MONDO:0005510 hydronephrosis skos:exactMatch SCTID:43064006 semapv:UnspecifiedMatching MONDO:0005510 hydronephrosis skos:exactMatch UMLS:C0020295 semapv:UnspecifiedMatching MONDO:0005510 hydronephrosis skos:exactMatch mesh:D006869 semapv:UnspecifiedMatching MONDO:0005511 janus kinase-3 deficiency skos:exactMatch DOID:0060008 janus kinase-3 deficiency semapv:UnspecifiedMatching MONDO:0005511 janus kinase-3 deficiency skos:exactMatch EFO:0005565 semapv:UnspecifiedMatching MONDO:0005512 malignant peritoneal mesothelioma skos:exactMatch DOID:1788 peritoneal mesothelioma semapv:UnspecifiedMatching MONDO:0005512 malignant peritoneal mesothelioma skos:exactMatch EFO:0005567 semapv:UnspecifiedMatching MONDO:0005512 malignant peritoneal mesothelioma skos:exactMatch MEDGEN:83406 semapv:UnspecifiedMatching MONDO:0005512 malignant peritoneal mesothelioma skos:exactMatch NCIT:C8704 Advanced Peritoneal Malignant Mesothelioma semapv:UnspecifiedMatching MONDO:0005512 malignant peritoneal mesothelioma skos:exactMatch Orphanet:168811 Malignant peritoneal mesothelioma semapv:UnspecifiedMatching MONDO:0005512 malignant peritoneal mesothelioma skos:exactMatch UMLS:C0346109 semapv:UnspecifiedMatching MONDO:0005514 nanophthalmia skos:exactMatch DOID:0080634 nanophthalmos semapv:UnspecifiedMatching MONDO:0005514 nanophthalmia skos:exactMatch MEDGEN:901455 semapv:UnspecifiedMatching MONDO:0005514 nanophthalmia skos:exactMatch OMIMPS:600165 Nanophthalmos semapv:UnspecifiedMatching MONDO:0005514 nanophthalmia skos:exactMatch Orphanet:35612 Nanophthalmos semapv:UnspecifiedMatching MONDO:0005514 nanophthalmia skos:exactMatch SCTID:716775009 semapv:UnspecifiedMatching MONDO:0005514 nanophthalmia skos:exactMatch UMLS:C4274282 semapv:UnspecifiedMatching MONDO:0005515 oral cavity cancer skos:exactMatch DOID:8618 oral cavity cancer semapv:UnspecifiedMatching MONDO:0005515 oral cavity cancer skos:exactMatch EFO:0005570 semapv:UnspecifiedMatching MONDO:0005515 oral cavity cancer skos:exactMatch MEDGEN:56298 semapv:UnspecifiedMatching MONDO:0005515 oral cavity cancer skos:exactMatch NCIT:C9314 Malignant Oral Cavity Neoplasm semapv:UnspecifiedMatching MONDO:0005515 oral cavity cancer skos:exactMatch SCTID:363505006 semapv:UnspecifiedMatching MONDO:0005515 oral cavity cancer skos:exactMatch UMLS:C0153381 semapv:UnspecifiedMatching MONDO:0005516 osteochondrodysplasia skos:exactMatch DOID:2256 osteochondrodysplasia semapv:UnspecifiedMatching MONDO:0005516 osteochondrodysplasia skos:exactMatch EFO:0005571 semapv:UnspecifiedMatching MONDO:0005516 osteochondrodysplasia skos:exactMatch MEDGEN:10495 semapv:UnspecifiedMatching MONDO:0005516 osteochondrodysplasia skos:exactMatch NCIT:C84978 Osteochondrodysplasia semapv:UnspecifiedMatching MONDO:0005516 osteochondrodysplasia skos:exactMatch SCTID:105985007 semapv:UnspecifiedMatching MONDO:0005516 osteochondrodysplasia skos:exactMatch UMLS:C0029422 semapv:UnspecifiedMatching MONDO:0005516 osteochondrodysplasia skos:exactMatch mesh:D010009 semapv:UnspecifiedMatching MONDO:0005517 pharynx cancer skos:exactMatch DOID:0060119 pharynx cancer semapv:UnspecifiedMatching MONDO:0005517 pharynx cancer skos:exactMatch EFO:0005577 semapv:UnspecifiedMatching MONDO:0005517 pharynx cancer skos:exactMatch MEDGEN:57554 semapv:UnspecifiedMatching MONDO:0005517 pharynx cancer skos:exactMatch NCIT:C7545 Malignant Pharyngeal Neoplasm semapv:UnspecifiedMatching MONDO:0005517 pharynx cancer skos:exactMatch UMLS:C0153405 semapv:UnspecifiedMatching MONDO:0005517 pharynx cancer skos:exactMatch mesh:D010610 semapv:UnspecifiedMatching MONDO:0005518 pseudohermaphroditism skos:exactMatch DOID:3765 pseudohermaphroditism semapv:UnspecifiedMatching MONDO:0005518 pseudohermaphroditism skos:exactMatch EFO:0005579 semapv:UnspecifiedMatching MONDO:0005518 pseudohermaphroditism skos:exactMatch ICD10CM:Q56.3 Pseudohermaphroditism, unspecified semapv:UnspecifiedMatching MONDO:0005518 pseudohermaphroditism skos:exactMatch MEDGEN:10991 semapv:UnspecifiedMatching MONDO:0005518 pseudohermaphroditism skos:exactMatch NCIT:C124575 Pseudohermaphroditism semapv:UnspecifiedMatching MONDO:0005518 pseudohermaphroditism skos:exactMatch SCTID:75164001 semapv:UnspecifiedMatching MONDO:0005518 pseudohermaphroditism skos:exactMatch UMLS:C0033804 semapv:UnspecifiedMatching MONDO:0005519 renal pelvis carcinoma skos:exactMatch DOID:4919 renal pelvis carcinoma semapv:UnspecifiedMatching MONDO:0005519 renal pelvis carcinoma skos:exactMatch EFO:0005582 semapv:UnspecifiedMatching MONDO:0005519 renal pelvis carcinoma skos:exactMatch ICD10CM:C65 Malignant neoplasm of renal pelvis semapv:UnspecifiedMatching MONDO:0005519 renal pelvis carcinoma skos:exactMatch MEDGEN:235548 semapv:UnspecifiedMatching MONDO:0005519 renal pelvis carcinoma skos:exactMatch NCIT:C6142 Renal Pelvis Carcinoma semapv:UnspecifiedMatching MONDO:0005519 renal pelvis carcinoma skos:exactMatch SCTID:363457009 semapv:UnspecifiedMatching MONDO:0005519 renal pelvis carcinoma skos:exactMatch UMLS:C1335749 semapv:UnspecifiedMatching MONDO:0005520 rickets skos:exactMatch DOID:10609 rickets semapv:UnspecifiedMatching MONDO:0005520 rickets skos:exactMatch EFO:0005583 semapv:UnspecifiedMatching MONDO:0005520 rickets skos:exactMatch MEDGEN:48470 semapv:UnspecifiedMatching MONDO:0005520 rickets skos:exactMatch NCIT:C26878 Rickets semapv:UnspecifiedMatching MONDO:0005520 rickets skos:exactMatch SCTID:41345002 semapv:UnspecifiedMatching MONDO:0005520 rickets skos:exactMatch UMLS:C0035579 semapv:UnspecifiedMatching MONDO:0005520 rickets skos:exactMatch mesh:D012279 semapv:UnspecifiedMatching MONDO:0005522 small intestine carcinoma skos:exactMatch DOID:4907 small intestine carcinoma semapv:UnspecifiedMatching MONDO:0005522 small intestine carcinoma skos:exactMatch EFO:0005588 semapv:UnspecifiedMatching MONDO:0005522 small intestine carcinoma skos:exactMatch MEDGEN:65952 semapv:UnspecifiedMatching MONDO:0005522 small intestine carcinoma skos:exactMatch NCIT:C7724 Small Intestinal Carcinoma semapv:UnspecifiedMatching MONDO:0005522 small intestine carcinoma skos:exactMatch SCTID:448664009 semapv:UnspecifiedMatching MONDO:0005522 small intestine carcinoma skos:exactMatch UMLS:C0238196 semapv:UnspecifiedMatching MONDO:0005522 small intestine carcinoma skos:exactMatch icd11.foundation:1484520499 Small intestine carcinoma semapv:UnspecifiedMatching MONDO:0005523 steroid inherited metabolic disorder skos:exactMatch DOID:1701 steroid inherited metabolic disorder semapv:UnspecifiedMatching MONDO:0005523 steroid inherited metabolic disorder skos:exactMatch EFO:0005590 semapv:UnspecifiedMatching MONDO:0005523 steroid inherited metabolic disorder skos:exactMatch MEDGEN:219772 semapv:UnspecifiedMatching MONDO:0005523 steroid inherited metabolic disorder skos:exactMatch UMLS:C1257809 semapv:UnspecifiedMatching MONDO:0005523 steroid inherited metabolic disorder skos:exactMatch mesh:D043202 semapv:UnspecifiedMatching MONDO:0005524 sweat gland carcinoma skos:exactMatch DOID:5667 sweat gland carcinoma semapv:UnspecifiedMatching MONDO:0005524 sweat gland carcinoma skos:exactMatch EFO:0005591 semapv:UnspecifiedMatching MONDO:0005524 sweat gland carcinoma skos:exactMatch MEDGEN:234685 semapv:UnspecifiedMatching MONDO:0005524 sweat gland carcinoma skos:exactMatch NCIT:C6938 Sweat Gland Carcinoma semapv:UnspecifiedMatching MONDO:0005524 sweat gland carcinoma skos:exactMatch UMLS:C1412016 semapv:UnspecifiedMatching MONDO:0005525 T-cell leukemia skos:exactMatch EFO:0005592 semapv:UnspecifiedMatching MONDO:0005525 T-cell leukemia skos:exactMatch MEDGEN:6064 semapv:UnspecifiedMatching MONDO:0005525 T-cell leukemia skos:exactMatch UMLS:C0023492 semapv:UnspecifiedMatching MONDO:0005525 T-cell leukemia skos:exactMatch mesh:D015458 semapv:UnspecifiedMatching MONDO:0005526 tetanus skos:exactMatch DOID:11338 tetanus semapv:UnspecifiedMatching MONDO:0005526 tetanus skos:exactMatch EFO:0005593 semapv:UnspecifiedMatching MONDO:0005526 tetanus skos:exactMatch MEDGEN:21489 semapv:UnspecifiedMatching MONDO:0005526 tetanus skos:exactMatch NCIT:C85185 Tetanus semapv:UnspecifiedMatching MONDO:0005526 tetanus skos:exactMatch Orphanet:3299 Tetanus semapv:UnspecifiedMatching MONDO:0005526 tetanus skos:exactMatch SCTID:276202003 semapv:UnspecifiedMatching MONDO:0005526 tetanus skos:exactMatch SCTID:76902006 semapv:UnspecifiedMatching MONDO:0005526 tetanus skos:exactMatch UMLS:C0039614 semapv:UnspecifiedMatching MONDO:0005526 tetanus skos:exactMatch icd11.foundation:1793762788 Tetanus semapv:UnspecifiedMatching MONDO:0005526 tetanus skos:exactMatch mesh:D013742 semapv:UnspecifiedMatching MONDO:0005527 toxic encephalopathy skos:exactMatch DOID:3602 toxic encephalopathy semapv:UnspecifiedMatching MONDO:0005527 toxic encephalopathy skos:exactMatch EFO:0005595 semapv:UnspecifiedMatching MONDO:0005527 toxic encephalopathy skos:exactMatch ICD10CM:G92 Toxic encephalopathy semapv:UnspecifiedMatching MONDO:0005527 toxic encephalopathy skos:exactMatch ICD10WHO:G92 Toxic encephalopathy semapv:UnspecifiedMatching MONDO:0005527 toxic encephalopathy skos:exactMatch NCIT:C27961 Neurotoxicity Syndrome semapv:UnspecifiedMatching MONDO:0005527 toxic encephalopathy skos:exactMatch SCTID:28394000 semapv:UnspecifiedMatching MONDO:0005527 toxic encephalopathy skos:exactMatch mesh:D020258 semapv:UnspecifiedMatching MONDO:0005528 inborn vitamin metabolic disorder skos:exactMatch DOID:0050718 vitamin metabolic disorder semapv:UnspecifiedMatching MONDO:0005528 inborn vitamin metabolic disorder skos:exactMatch EFO:0005596 semapv:UnspecifiedMatching MONDO:0005530 opiate dependence skos:exactMatch DOID:2559 opiate dependence semapv:UnspecifiedMatching MONDO:0005530 opiate dependence skos:exactMatch EFO:0005611 semapv:UnspecifiedMatching MONDO:0005530 opiate dependence skos:exactMatch ICD10CM:F11.2 Opioid dependence semapv:UnspecifiedMatching MONDO:0005530 opiate dependence skos:exactMatch MEDGEN:99372 semapv:UnspecifiedMatching MONDO:0005530 opiate dependence skos:exactMatch SCTID:75544000 semapv:UnspecifiedMatching MONDO:0005530 opiate dependence skos:exactMatch UMLS:C0524662 semapv:UnspecifiedMatching MONDO:0005530 opiate dependence skos:exactMatch mesh:D009293 semapv:UnspecifiedMatching MONDO:0005531 morphine dependence skos:exactMatch DOID:2560 morphine dependence semapv:UnspecifiedMatching MONDO:0005531 morphine dependence skos:exactMatch EFO:0005612 semapv:UnspecifiedMatching MONDO:0005531 morphine dependence skos:exactMatch MEDGEN:7706 semapv:UnspecifiedMatching MONDO:0005531 morphine dependence skos:exactMatch SCTID:231479000 semapv:UnspecifiedMatching MONDO:0005531 morphine dependence skos:exactMatch UMLS:C0026552 semapv:UnspecifiedMatching MONDO:0005531 morphine dependence skos:exactMatch icd11.foundation:337142707 Morphine dependence semapv:UnspecifiedMatching MONDO:0005531 morphine dependence skos:exactMatch mesh:D009021 semapv:UnspecifiedMatching MONDO:0005532 Crohn's colitis skos:exactMatch DOID:0060192 Crohn's colitis semapv:UnspecifiedMatching MONDO:0005532 Crohn's colitis skos:exactMatch EFO:0005622 semapv:UnspecifiedMatching MONDO:0005532 Crohn's colitis skos:exactMatch MEDGEN:57618 semapv:UnspecifiedMatching MONDO:0005532 Crohn's colitis skos:exactMatch NCIT:C35211 Crohn Colitis semapv:UnspecifiedMatching MONDO:0005532 Crohn's colitis skos:exactMatch UMLS:C0156147 semapv:UnspecifiedMatching MONDO:0005533 distal colitis skos:exactMatch EFO:0005623 semapv:UnspecifiedMatching MONDO:0005533 distal colitis skos:exactMatch MEDGEN:678582 semapv:UnspecifiedMatching MONDO:0005533 distal colitis skos:exactMatch SCTID:373639002 semapv:UnspecifiedMatching MONDO:0005533 distal colitis skos:exactMatch UMLS:C0860168 semapv:UnspecifiedMatching MONDO:0005534 ileocolitis skos:exactMatch DOID:0060190 ileocolitis semapv:UnspecifiedMatching MONDO:0005534 ileocolitis skos:exactMatch EFO:0005624 semapv:UnspecifiedMatching MONDO:0005534 ileocolitis skos:exactMatch MEDGEN:184943 semapv:UnspecifiedMatching MONDO:0005534 ileocolitis skos:exactMatch UMLS:C0949272 semapv:UnspecifiedMatching MONDO:0005535 oral Crohn disease skos:exactMatch MEDGEN:585601 semapv:UnspecifiedMatching MONDO:0005535 oral Crohn disease skos:exactMatch SCTID:196578009 semapv:UnspecifiedMatching MONDO:0005535 oral Crohn disease skos:exactMatch UMLS:C0399497 semapv:UnspecifiedMatching MONDO:0005536 pancolitis skos:exactMatch EFO:0005626 semapv:UnspecifiedMatching MONDO:0005536 pancolitis skos:exactMatch MEDGEN:1720692 semapv:UnspecifiedMatching MONDO:0005536 pancolitis skos:exactMatch UMLS:C0868908 semapv:UnspecifiedMatching MONDO:0005537 perianal Crohn disease skos:exactMatch EFO:0005627 semapv:UnspecifiedMatching MONDO:0005537 perianal Crohn disease skos:exactMatch MEDGEN:574362 semapv:UnspecifiedMatching MONDO:0005537 perianal Crohn disease skos:exactMatch SCTID:235796008 semapv:UnspecifiedMatching MONDO:0005537 perianal Crohn disease skos:exactMatch UMLS:C0341395 semapv:UnspecifiedMatching MONDO:0005537 perianal Crohn disease skos:exactMatch icd11.foundation:464644598 Crohn disease of anal region semapv:UnspecifiedMatching MONDO:0005538 proctitis skos:exactMatch DOID:3127 proctitis semapv:UnspecifiedMatching MONDO:0005538 proctitis skos:exactMatch EFO:0005628 semapv:UnspecifiedMatching MONDO:0005538 proctitis skos:exactMatch MEDGEN:46113 semapv:UnspecifiedMatching MONDO:0005538 proctitis skos:exactMatch NCIT:C38011 Proctitis semapv:UnspecifiedMatching MONDO:0005538 proctitis skos:exactMatch SCTID:3951002 semapv:UnspecifiedMatching MONDO:0005538 proctitis skos:exactMatch UMLS:C0033246 semapv:UnspecifiedMatching MONDO:0005538 proctitis skos:exactMatch mesh:D011349 semapv:UnspecifiedMatching MONDO:0005539 small bowel Crohn disease skos:exactMatch EFO:0005629 semapv:UnspecifiedMatching MONDO:0005539 small bowel Crohn disease skos:exactMatch MEDGEN:57617 semapv:UnspecifiedMatching MONDO:0005539 small bowel Crohn disease skos:exactMatch UMLS:C0156146 semapv:UnspecifiedMatching MONDO:0005541 spondylolysis skos:exactMatch DOID:2300 spondylolysis semapv:UnspecifiedMatching MONDO:0005541 spondylolysis skos:exactMatch EFO:0005649 semapv:UnspecifiedMatching MONDO:0005541 spondylolysis skos:exactMatch ICD10CM:M43.0 Spondylolysis semapv:UnspecifiedMatching MONDO:0005541 spondylolysis skos:exactMatch MEDGEN:21294 semapv:UnspecifiedMatching MONDO:0005541 spondylolysis skos:exactMatch NCIT:C35034 Spondylolysis semapv:UnspecifiedMatching MONDO:0005541 spondylolysis skos:exactMatch SCTID:240221008 semapv:UnspecifiedMatching MONDO:0005541 spondylolysis skos:exactMatch UMLS:C0038018 semapv:UnspecifiedMatching MONDO:0005541 spondylolysis skos:exactMatch icd11.foundation:790009325 Spondylolysis semapv:UnspecifiedMatching MONDO:0005541 spondylolysis skos:exactMatch mesh:D013169 semapv:UnspecifiedMatching MONDO:0005542 acute coronary syndrome skos:exactMatch EFO:0005672 semapv:UnspecifiedMatching MONDO:0005542 acute coronary syndrome skos:exactMatch MEDGEN:215295 semapv:UnspecifiedMatching MONDO:0005542 acute coronary syndrome skos:exactMatch NCIT:C53652 Acute Coronary Syndrome semapv:UnspecifiedMatching MONDO:0005542 acute coronary syndrome skos:exactMatch SCTID:394659003 semapv:UnspecifiedMatching MONDO:0005542 acute coronary syndrome skos:exactMatch UMLS:C0948089 semapv:UnspecifiedMatching MONDO:0005542 acute coronary syndrome skos:exactMatch mesh:D054058 semapv:UnspecifiedMatching MONDO:0005543 autoimmune hepatitis type 1 skos:exactMatch MEDGEN:928833 semapv:UnspecifiedMatching MONDO:0005543 autoimmune hepatitis type 1 skos:exactMatch Orphanet:563576 Autoimmune hepatitis type 1 semapv:UnspecifiedMatching MONDO:0005543 autoimmune hepatitis type 1 skos:exactMatch SCTID:197284004 semapv:UnspecifiedMatching MONDO:0005543 autoimmune hepatitis type 1 skos:exactMatch SCTID:721711009 semapv:UnspecifiedMatching MONDO:0005543 autoimmune hepatitis type 1 skos:exactMatch UMLS:C4303164 semapv:UnspecifiedMatching MONDO:0005543 autoimmune hepatitis type 1 skos:exactMatch icd11.foundation:260422751 Autoimmune hepatitis type 1 semapv:UnspecifiedMatching MONDO:0005544 hippocampal sclerosis of aging skos:exactMatch EFO:0005678 semapv:UnspecifiedMatching MONDO:0005544 hippocampal sclerosis of aging skos:exactMatch MEDGEN:1801569 semapv:UnspecifiedMatching MONDO:0005544 hippocampal sclerosis of aging skos:exactMatch UMLS:C5691287 semapv:UnspecifiedMatching MONDO:0005545 staphylococcus aureus infection skos:exactMatch EFO:0005681 semapv:UnspecifiedMatching MONDO:0005545 staphylococcus aureus infection skos:exactMatch MEDGEN:232934 semapv:UnspecifiedMatching MONDO:0005545 staphylococcus aureus infection skos:exactMatch NCIT:C122576 Staphylococcus aureus Infection semapv:UnspecifiedMatching MONDO:0005545 staphylococcus aureus infection skos:exactMatch SCTID:406602003 semapv:UnspecifiedMatching MONDO:0005545 staphylococcus aureus infection skos:exactMatch UMLS:C1318973 semapv:UnspecifiedMatching MONDO:0005546 fibromyalgia skos:exactMatch DOID:631 fibromyalgia semapv:UnspecifiedMatching MONDO:0005546 fibromyalgia skos:exactMatch EFO:0005687 semapv:UnspecifiedMatching MONDO:0005546 fibromyalgia skos:exactMatch ICD10CM:M79.7 Fibromyalgia semapv:UnspecifiedMatching MONDO:0005546 fibromyalgia skos:exactMatch MEDGEN:42018 semapv:UnspecifiedMatching MONDO:0005546 fibromyalgia skos:exactMatch NCIT:C87497 Fibromyalgia semapv:UnspecifiedMatching MONDO:0005546 fibromyalgia skos:exactMatch SCTID:203082005 semapv:UnspecifiedMatching MONDO:0005546 fibromyalgia skos:exactMatch UMLS:C0016053 semapv:UnspecifiedMatching MONDO:0005546 fibromyalgia skos:exactMatch mesh:D005356 semapv:UnspecifiedMatching MONDO:0005549 renal cell adenocarcinoma skos:exactMatch EFO:0005708 semapv:UnspecifiedMatching MONDO:0005549 renal cell adenocarcinoma skos:exactMatch NCIT:C9385 Renal Cell Carcinoma semapv:UnspecifiedMatching MONDO:0005550 infectious disease skos:exactMatch DOID:0050117 disease by infectious agent semapv:UnspecifiedMatching MONDO:0005550 infectious disease skos:exactMatch EFO:0005741 semapv:UnspecifiedMatching MONDO:0005550 infectious disease skos:exactMatch ICD10CM:A00-B99 Certain infectious and parasitic diseases (A00-B99) semapv:UnspecifiedMatching MONDO:0005550 infectious disease skos:exactMatch MEDGEN:1057 semapv:UnspecifiedMatching MONDO:0005550 infectious disease skos:exactMatch NCIT:C26726 Infectious Disorder semapv:UnspecifiedMatching MONDO:0005550 infectious disease skos:exactMatch SCTID:40733004 semapv:UnspecifiedMatching MONDO:0005550 infectious disease skos:exactMatch UMLS:C0009450 semapv:UnspecifiedMatching MONDO:0005550 infectious disease skos:exactMatch mesh:D003141 semapv:UnspecifiedMatching MONDO:0005551 eye allergy skos:exactMatch EFO:0005751 semapv:UnspecifiedMatching MONDO:0005551 eye allergy skos:exactMatch MEDGEN:1843485 semapv:UnspecifiedMatching MONDO:0005551 eye allergy skos:exactMatch UMLS:C0852875 semapv:UnspecifiedMatching MONDO:0005552 ocular vascular disorder skos:exactMatch EFO:0005753 semapv:UnspecifiedMatching MONDO:0005552 ocular vascular disorder skos:exactMatch MEDGEN:182689 semapv:UnspecifiedMatching MONDO:0005552 ocular vascular disorder skos:exactMatch NCIT:C35664 Ocular Vascular Disorder semapv:UnspecifiedMatching MONDO:0005552 ocular vascular disorder skos:exactMatch UMLS:C0948522 semapv:UnspecifiedMatching MONDO:0005554 rheumatic disorder skos:exactMatch DOID:1575 rheumatic disease semapv:UnspecifiedMatching MONDO:0005554 rheumatic disorder skos:exactMatch EFO:0005755 semapv:UnspecifiedMatching MONDO:0005554 rheumatic disorder skos:exactMatch MEDGEN:3157 semapv:UnspecifiedMatching MONDO:0005554 rheumatic disorder skos:exactMatch NCIT:C27204 Rheumatologic Disorder semapv:UnspecifiedMatching MONDO:0005554 rheumatic disorder skos:exactMatch SCTID:396332003 semapv:UnspecifiedMatching MONDO:0005554 rheumatic disorder skos:exactMatch UMLS:C0009326 semapv:UnspecifiedMatching MONDO:0005554 rheumatic disorder skos:exactMatch mesh:D012216 semapv:UnspecifiedMatching MONDO:0005555 cycloplegia skos:exactMatch DOID:10033 cycloplegia semapv:UnspecifiedMatching MONDO:0005555 cycloplegia skos:exactMatch EFO:0005758 semapv:UnspecifiedMatching MONDO:0005555 cycloplegia skos:exactMatch ICD10CM:H52.52 Paresis of accommodation semapv:UnspecifiedMatching MONDO:0005555 cycloplegia skos:exactMatch MEDGEN:536368 semapv:UnspecifiedMatching MONDO:0005555 cycloplegia skos:exactMatch SCTID:68158006 semapv:UnspecifiedMatching MONDO:0005555 cycloplegia skos:exactMatch UMLS:C0235238 semapv:UnspecifiedMatching MONDO:0005556 lupus nephritis skos:exactMatch DOID:0080162 lupus nephritis semapv:UnspecifiedMatching MONDO:0005556 lupus nephritis skos:exactMatch EFO:0005761 semapv:UnspecifiedMatching MONDO:0005556 lupus nephritis skos:exactMatch MEDGEN:6147 semapv:UnspecifiedMatching MONDO:0005556 lupus nephritis skos:exactMatch NCIT:C34789 Lupus Glomerulonephritis semapv:UnspecifiedMatching MONDO:0005556 lupus nephritis skos:exactMatch SCTID:68815009 semapv:UnspecifiedMatching MONDO:0005556 lupus nephritis skos:exactMatch UMLS:C0024143 semapv:UnspecifiedMatching MONDO:0005556 lupus nephritis skos:exactMatch icd11.foundation:1815692673 Lupus nephritis semapv:UnspecifiedMatching MONDO:0005556 lupus nephritis skos:exactMatch mesh:D008181 semapv:UnspecifiedMatching MONDO:0005557 calcium metabolic disease skos:exactMatch DOID:10575 calcium metabolism disease semapv:UnspecifiedMatching MONDO:0005557 calcium metabolic disease skos:exactMatch EFO:0005769 semapv:UnspecifiedMatching MONDO:0005557 calcium metabolic disease skos:exactMatch MEDGEN:714 semapv:UnspecifiedMatching MONDO:0005557 calcium metabolic disease skos:exactMatch SCTID:71638002 semapv:UnspecifiedMatching MONDO:0005557 calcium metabolic disease skos:exactMatch UMLS:C0006705 semapv:UnspecifiedMatching MONDO:0005557 calcium metabolic disease skos:exactMatch mesh:D002128 semapv:UnspecifiedMatching MONDO:0005558 ovarian disorder skos:exactMatch DOID:1100 ovarian disease semapv:UnspecifiedMatching MONDO:0005558 ovarian disorder skos:exactMatch EFO:0005771 semapv:UnspecifiedMatching MONDO:0005558 ovarian disorder skos:exactMatch MEDGEN:892314 semapv:UnspecifiedMatching MONDO:0005558 ovarian disorder skos:exactMatch NCIT:C26841 Ovarian Disorder semapv:UnspecifiedMatching MONDO:0005558 ovarian disorder skos:exactMatch SCTID:5552004 semapv:UnspecifiedMatching MONDO:0005558 ovarian disorder skos:exactMatch UMLS:C4021818 semapv:UnspecifiedMatching MONDO:0005558 ovarian disorder skos:exactMatch mesh:D010049 semapv:UnspecifiedMatching MONDO:0005559 neurodegenerative disease skos:exactMatch DOID:1289 neurodegenerative disease semapv:UnspecifiedMatching MONDO:0005559 neurodegenerative disease skos:exactMatch EFO:0005772 semapv:UnspecifiedMatching MONDO:0005559 neurodegenerative disease skos:exactMatch MEDGEN:17999 semapv:UnspecifiedMatching MONDO:0005559 neurodegenerative disease skos:exactMatch NCIT:C4802 Central Nervous System Degenerative Disorder semapv:UnspecifiedMatching MONDO:0005559 neurodegenerative disease skos:exactMatch SCTID:80690008 semapv:UnspecifiedMatching MONDO:0005559 neurodegenerative disease skos:exactMatch UMLS:C0027746 semapv:UnspecifiedMatching MONDO:0005559 neurodegenerative disease skos:exactMatch mesh:D019636 semapv:UnspecifiedMatching MONDO:0005560 brain disorder skos:exactMatch DOID:936 brain disease semapv:UnspecifiedMatching MONDO:0005560 brain disorder skos:exactMatch EFO:0005774 semapv:UnspecifiedMatching MONDO:0005560 brain disorder skos:exactMatch MEDGEN:14214 semapv:UnspecifiedMatching MONDO:0005560 brain disorder skos:exactMatch NCIT:C96413 Brain Disorder semapv:UnspecifiedMatching MONDO:0005560 brain disorder skos:exactMatch SCTID:81308009 semapv:UnspecifiedMatching MONDO:0005560 brain disorder skos:exactMatch UMLS:C0006111 semapv:UnspecifiedMatching MONDO:0005560 brain disorder skos:exactMatch mesh:D001927 semapv:UnspecifiedMatching MONDO:0005561 aortic disorder skos:exactMatch DOID:520 aortic disease semapv:UnspecifiedMatching MONDO:0005561 aortic disorder skos:exactMatch EFO:0005775 semapv:UnspecifiedMatching MONDO:0005561 aortic disorder skos:exactMatch MEDGEN:1618 semapv:UnspecifiedMatching MONDO:0005561 aortic disorder skos:exactMatch NCIT:C101253 Aorta Disease semapv:UnspecifiedMatching MONDO:0005561 aortic disorder skos:exactMatch SCTID:47040006 semapv:UnspecifiedMatching MONDO:0005561 aortic disorder skos:exactMatch UMLS:C0003493 semapv:UnspecifiedMatching MONDO:0005561 aortic disorder skos:exactMatch mesh:D001018 semapv:UnspecifiedMatching MONDO:0005562 obsolete age-related hearing impairment skos:exactMatch EFO:0005782 semapv:UnspecifiedMatching MONDO:0005563 nut midline carcinoma skos:exactMatch DOID:0060463 NUT midline carcinoma semapv:UnspecifiedMatching MONDO:0005563 nut midline carcinoma skos:exactMatch EFO:0005783 semapv:UnspecifiedMatching MONDO:0005563 nut midline carcinoma skos:exactMatch MEDGEN:312999 semapv:UnspecifiedMatching MONDO:0005563 nut midline carcinoma skos:exactMatch NCIT:C45716 NUT Carcinoma semapv:UnspecifiedMatching MONDO:0005563 nut midline carcinoma skos:exactMatch Orphanet:443167 NUT midline carcinoma semapv:UnspecifiedMatching MONDO:0005563 nut midline carcinoma skos:exactMatch UMLS:C1707291 semapv:UnspecifiedMatching MONDO:0005564 embryonal neoplasm skos:exactMatch DOID:688 embryonal cancer semapv:UnspecifiedMatching MONDO:0005564 embryonal neoplasm skos:exactMatch EFO:0005784 semapv:UnspecifiedMatching MONDO:0005564 embryonal neoplasm skos:exactMatch MEDGEN:45034 semapv:UnspecifiedMatching MONDO:0005564 embryonal neoplasm skos:exactMatch NCIT:C3264 Embryonal Neoplasm semapv:UnspecifiedMatching MONDO:0005564 embryonal neoplasm skos:exactMatch UMLS:C0027654 semapv:UnspecifiedMatching MONDO:0005565 blastoma skos:exactMatch DOID:0070003 blastoma semapv:UnspecifiedMatching MONDO:0005565 blastoma skos:exactMatch DOID:4766 embryoma semapv:UnspecifiedMatching MONDO:0005565 blastoma skos:exactMatch EFO:0005785 semapv:UnspecifiedMatching MONDO:0005565 blastoma skos:exactMatch MEDGEN:181704 semapv:UnspecifiedMatching MONDO:0005565 blastoma skos:exactMatch NCIT:C8997 Blastoma semapv:UnspecifiedMatching MONDO:0005565 blastoma skos:exactMatch UMLS:C0936282 semapv:UnspecifiedMatching MONDO:0005566 neonatal abstinence syndrome skos:exactMatch DOID:9828 neonatal abstinence syndrome semapv:UnspecifiedMatching MONDO:0005566 neonatal abstinence syndrome skos:exactMatch EFO:0005799 semapv:UnspecifiedMatching MONDO:0005566 neonatal abstinence syndrome skos:exactMatch ICD10CM:P96.1 Neonatal withdrawal symptoms from maternal use of drugs of addiction semapv:UnspecifiedMatching MONDO:0005566 neonatal abstinence syndrome skos:exactMatch MEDGEN:10207 semapv:UnspecifiedMatching MONDO:0005566 neonatal abstinence syndrome skos:exactMatch NCIT:C87101 Neonatal Abstinence Syndrome semapv:UnspecifiedMatching MONDO:0005566 neonatal abstinence syndrome skos:exactMatch SCTID:414819007 semapv:UnspecifiedMatching MONDO:0005566 neonatal abstinence syndrome skos:exactMatch UMLS:C0027609 semapv:UnspecifiedMatching MONDO:0005566 neonatal abstinence syndrome skos:exactMatch mesh:D009357 semapv:UnspecifiedMatching MONDO:0005567 substance withdrawal syndrome skos:exactMatch DOID:0060001 withdrawal disorder semapv:UnspecifiedMatching MONDO:0005567 substance withdrawal syndrome skos:exactMatch EFO:0005800 semapv:UnspecifiedMatching MONDO:0005567 substance withdrawal syndrome skos:exactMatch MEDGEN:20990 semapv:UnspecifiedMatching MONDO:0005567 substance withdrawal syndrome skos:exactMatch NCIT:C35046 Substance Withdrawal Syndrome semapv:UnspecifiedMatching MONDO:0005567 substance withdrawal syndrome skos:exactMatch SCTID:363101005 semapv:UnspecifiedMatching MONDO:0005567 substance withdrawal syndrome skos:exactMatch UMLS:C0038587 semapv:UnspecifiedMatching MONDO:0005567 substance withdrawal syndrome skos:exactMatch mesh:D013375 semapv:UnspecifiedMatching MONDO:0005568 cholesterol embolism skos:exactMatch DOID:1461 cholesterol embolism semapv:UnspecifiedMatching MONDO:0005568 cholesterol embolism skos:exactMatch EFO:0005801 semapv:UnspecifiedMatching MONDO:0005568 cholesterol embolism skos:exactMatch ICD10CM:I75 Atheroembolism semapv:UnspecifiedMatching MONDO:0005568 cholesterol embolism skos:exactMatch MEDGEN:57437 semapv:UnspecifiedMatching MONDO:0005568 cholesterol embolism skos:exactMatch SCTID:307406004 semapv:UnspecifiedMatching MONDO:0005568 cholesterol embolism skos:exactMatch UMLS:C0149649 semapv:UnspecifiedMatching MONDO:0005568 cholesterol embolism skos:exactMatch mesh:D017700 semapv:UnspecifiedMatching MONDO:0005569 obsolete cartilage disease skos:exactMatch DOID:1222 cartilage disease semapv:UnspecifiedMatching MONDO:0005569 obsolete cartilage disease skos:exactMatch SCTID:50927007 semapv:UnspecifiedMatching MONDO:0005569 obsolete cartilage disease skos:exactMatch mesh:D002357 semapv:UnspecifiedMatching MONDO:0005570 hematologic disorder skos:exactMatch DOID:74 hematopoietic system disease semapv:UnspecifiedMatching MONDO:0005570 hematologic disorder skos:exactMatch EFO:0005803 semapv:UnspecifiedMatching MONDO:0005570 hematologic disorder skos:exactMatch ICD10CM:D50-D89 Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism (D50-D89) semapv:UnspecifiedMatching MONDO:0005570 hematologic disorder skos:exactMatch MEDGEN:5483 semapv:UnspecifiedMatching MONDO:0005570 hematologic disorder skos:exactMatch NCIT:C26323 Hematopoietic and Lymphoid Cell Disorder semapv:UnspecifiedMatching MONDO:0005570 hematologic disorder skos:exactMatch Orphanet:97992 Rare hematologic disease semapv:UnspecifiedMatching MONDO:0005570 hematologic disorder skos:exactMatch SCTID:414022008 semapv:UnspecifiedMatching MONDO:0005570 hematologic disorder skos:exactMatch UMLS:C0018939 semapv:UnspecifiedMatching MONDO:0005570 hematologic disorder skos:exactMatch mesh:D006402 semapv:UnspecifiedMatching MONDO:0005571 polycythemia skos:exactMatch DOID:8432 polycythemia semapv:UnspecifiedMatching MONDO:0005571 polycythemia skos:exactMatch EFO:0005804 semapv:UnspecifiedMatching MONDO:0005571 polycythemia skos:exactMatch MEDGEN:18552 semapv:UnspecifiedMatching MONDO:0005571 polycythemia skos:exactMatch NCIT:C26863 Polycythemia semapv:UnspecifiedMatching MONDO:0005571 polycythemia skos:exactMatch Orphanet:98427 Polycythemia semapv:UnspecifiedMatching MONDO:0005571 polycythemia skos:exactMatch UMLS:C0032461 semapv:UnspecifiedMatching MONDO:0005571 polycythemia skos:exactMatch mesh:D011086 semapv:UnspecifiedMatching MONDO:0005572 polycythemia due to hypoxia skos:exactMatch DOID:2835 polycythemia due to hypoxia semapv:UnspecifiedMatching MONDO:0005572 polycythemia due to hypoxia skos:exactMatch MEDGEN:163546 semapv:UnspecifiedMatching MONDO:0005572 polycythemia due to hypoxia skos:exactMatch NCIT:C27312 Polycythemia due to Hypoxia semapv:UnspecifiedMatching MONDO:0005572 polycythemia due to hypoxia skos:exactMatch UMLS:C0856818 semapv:UnspecifiedMatching MONDO:0005574 tauopathy skos:exactMatch DOID:680 tauopathy semapv:UnspecifiedMatching MONDO:0005574 tauopathy skos:exactMatch EFO:0005815 semapv:UnspecifiedMatching MONDO:0005574 tauopathy skos:exactMatch MEDGEN:181880 semapv:UnspecifiedMatching MONDO:0005574 tauopathy skos:exactMatch UMLS:C0949664 semapv:UnspecifiedMatching MONDO:0005574 tauopathy skos:exactMatch mesh:D024801 semapv:UnspecifiedMatching MONDO:0005575 colorectal cancer skos:exactMatch DOID:5672 large intestine cancer semapv:UnspecifiedMatching MONDO:0005575 colorectal cancer skos:exactMatch DOID:9256 colorectal cancer semapv:UnspecifiedMatching MONDO:0005575 colorectal cancer skos:exactMatch MEDGEN:83428 semapv:UnspecifiedMatching MONDO:0005575 colorectal cancer skos:exactMatch NCIT:C4978 Malignant Colorectal Neoplasm semapv:UnspecifiedMatching MONDO:0005575 colorectal cancer skos:exactMatch OMIM:114500 colorectal cancer semapv:UnspecifiedMatching MONDO:0005575 colorectal cancer skos:exactMatch SCTID:363510005 semapv:UnspecifiedMatching MONDO:0005575 colorectal cancer skos:exactMatch UMLS:C0346629 semapv:UnspecifiedMatching MONDO:0005576 cryoglobulinemia skos:exactMatch DOID:2917 cryoglobulinemia semapv:UnspecifiedMatching MONDO:0005576 cryoglobulinemia skos:exactMatch EFO:0005846 semapv:UnspecifiedMatching MONDO:0005576 cryoglobulinemia skos:exactMatch ICD10CM:D89.1 Cryoglobulinemia semapv:UnspecifiedMatching MONDO:0005576 cryoglobulinemia skos:exactMatch MEDGEN:3673 semapv:UnspecifiedMatching MONDO:0005576 cryoglobulinemia skos:exactMatch NCIT:C26736 Cryoglobulinemia semapv:UnspecifiedMatching MONDO:0005576 cryoglobulinemia skos:exactMatch SCTID:30911005 semapv:UnspecifiedMatching MONDO:0005576 cryoglobulinemia skos:exactMatch UMLS:C0010403 semapv:UnspecifiedMatching MONDO:0005576 cryoglobulinemia skos:exactMatch mesh:D003449 semapv:UnspecifiedMatching MONDO:0005578 arthritic joint disease skos:exactMatch DOID:848 arthritis semapv:UnspecifiedMatching MONDO:0005578 arthritic joint disease skos:exactMatch EFO:0005856 semapv:UnspecifiedMatching MONDO:0005578 arthritic joint disease skos:exactMatch MEDGEN:2043 semapv:UnspecifiedMatching MONDO:0005578 arthritic joint disease skos:exactMatch NCIT:C2883 Arthritis semapv:UnspecifiedMatching MONDO:0005578 arthritic joint disease skos:exactMatch SCTID:3723001 semapv:UnspecifiedMatching MONDO:0005578 arthritic joint disease skos:exactMatch UMLS:C0003864 semapv:UnspecifiedMatching MONDO:0005578 arthritic joint disease skos:exactMatch mesh:D001168 semapv:UnspecifiedMatching MONDO:0005579 idiopathic generalized epilepsy skos:exactMatch DOID:1827 generalized epilepsy semapv:UnspecifiedMatching MONDO:0005579 idiopathic generalized epilepsy skos:exactMatch EFO:0005917 semapv:UnspecifiedMatching MONDO:0005579 idiopathic generalized epilepsy skos:exactMatch MEDGEN:75725 semapv:UnspecifiedMatching MONDO:0005579 idiopathic generalized epilepsy skos:exactMatch OMIM:600669 epilepsy, idiopathic generalized semapv:UnspecifiedMatching MONDO:0005579 idiopathic generalized epilepsy skos:exactMatch OMIMPS:600669 Epilepsy, idiopathic generalized semapv:UnspecifiedMatching MONDO:0005579 idiopathic generalized epilepsy skos:exactMatch SCTID:19598007 semapv:UnspecifiedMatching MONDO:0005579 idiopathic generalized epilepsy skos:exactMatch UMLS:C0270850 semapv:UnspecifiedMatching MONDO:0005579 idiopathic generalized epilepsy skos:exactMatch mesh:C562694 semapv:UnspecifiedMatching MONDO:0005580 esophageal squamous cell carcinoma skos:exactMatch DOID:3748 esophagus squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0005580 esophageal squamous cell carcinoma skos:exactMatch EFO:0005922 semapv:UnspecifiedMatching MONDO:0005580 esophageal squamous cell carcinoma skos:exactMatch MEDGEN:124635 semapv:UnspecifiedMatching MONDO:0005580 esophageal squamous cell carcinoma skos:exactMatch NCIT:C4024 Esophageal Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0005580 esophageal squamous cell carcinoma skos:exactMatch Orphanet:99977 Squamous cell carcinoma of the esophagus semapv:UnspecifiedMatching MONDO:0005580 esophageal squamous cell carcinoma skos:exactMatch SCTID:276804009 semapv:UnspecifiedMatching MONDO:0005580 esophageal squamous cell carcinoma skos:exactMatch UMLS:C0279626 semapv:UnspecifiedMatching MONDO:0005580 esophageal squamous cell carcinoma skos:exactMatch icd11.foundation:1417891145 Squamous cell carcinoma of oesophagus semapv:UnspecifiedMatching MONDO:0005580 esophageal squamous cell carcinoma skos:exactMatch mesh:C562729 semapv:UnspecifiedMatching MONDO:0005580 esophageal squamous cell carcinoma skos:exactMatch mesh:D000077277 semapv:UnspecifiedMatching MONDO:0005582 binge eating disorder skos:exactMatch EFO:0005924 semapv:UnspecifiedMatching MONDO:0005582 binge eating disorder skos:exactMatch ICD10CM:F50.81 Binge eating disorder semapv:UnspecifiedMatching MONDO:0005582 binge eating disorder skos:exactMatch MEDGEN:154543 semapv:UnspecifiedMatching MONDO:0005582 binge eating disorder skos:exactMatch NCIT:C97162 Binge Eating semapv:UnspecifiedMatching MONDO:0005582 binge eating disorder skos:exactMatch SCTID:439960005 semapv:UnspecifiedMatching MONDO:0005582 binge eating disorder skos:exactMatch UMLS:C0596170 semapv:UnspecifiedMatching MONDO:0005582 binge eating disorder skos:exactMatch icd11.foundation:1673294767 Binge eating disorder semapv:UnspecifiedMatching MONDO:0005582 binge eating disorder skos:exactMatch mesh:D002032 semapv:UnspecifiedMatching MONDO:0005583 non-human animal disease skos:exactMatch EFO:0005932 semapv:UnspecifiedMatching MONDO:0005583 non-human animal disease skos:exactMatch mesh:D000820 semapv:UnspecifiedMatching MONDO:0005584 congenital left-sided heart lesions skos:exactMatch EFO:0005938 semapv:UnspecifiedMatching MONDO:0005584 congenital left-sided heart lesions skos:exactMatch MEDGEN:868006 semapv:UnspecifiedMatching MONDO:0005584 congenital left-sided heart lesions skos:exactMatch UMLS:C4022397 semapv:UnspecifiedMatching MONDO:0005586 head and neck neoplasm skos:exactMatch EFO:0005950 semapv:UnspecifiedMatching MONDO:0005586 head and neck neoplasm skos:exactMatch MEDGEN:6728 semapv:UnspecifiedMatching MONDO:0005586 head and neck neoplasm skos:exactMatch NCIT:C3077 Head and Neck Neoplasm semapv:UnspecifiedMatching MONDO:0005586 head and neck neoplasm skos:exactMatch SCTID:255055008 semapv:UnspecifiedMatching MONDO:0005586 head and neck neoplasm skos:exactMatch UMLS:C0018671 semapv:UnspecifiedMatching MONDO:0005588 chemotherapy-induced oral mucositis skos:exactMatch MEDGEN:853868 semapv:UnspecifiedMatching MONDO:0005588 chemotherapy-induced oral mucositis skos:exactMatch UMLS:C2887631 semapv:UnspecifiedMatching MONDO:0005589 thiopurine immunosuppressant-induced pancreatitis skos:exactMatch EFO:0006315 semapv:UnspecifiedMatching MONDO:0005590 breast ductal adenocarcinoma skos:exactMatch DOID:3007 breast ductal carcinoma semapv:UnspecifiedMatching MONDO:0005590 breast ductal adenocarcinoma skos:exactMatch EFO:0006318 semapv:UnspecifiedMatching MONDO:0005590 breast ductal adenocarcinoma skos:exactMatch MEDGEN:315942 semapv:UnspecifiedMatching MONDO:0005590 breast ductal adenocarcinoma skos:exactMatch NCIT:C4017 Breast Ductal Carcinoma semapv:UnspecifiedMatching MONDO:0005590 breast ductal adenocarcinoma skos:exactMatch UMLS:C1527349 semapv:UnspecifiedMatching MONDO:0005590 breast ductal adenocarcinoma skos:exactMatch mesh:D018270 semapv:UnspecifiedMatching MONDO:0005591 pit and fissure surface dental caries skos:exactMatch MEDGEN:712983 semapv:UnspecifiedMatching MONDO:0005591 pit and fissure surface dental caries skos:exactMatch UMLS:C1290627 semapv:UnspecifiedMatching MONDO:0005592 smooth surface dental caries skos:exactMatch MEDGEN:1843464 semapv:UnspecifiedMatching MONDO:0005592 smooth surface dental caries skos:exactMatch UMLS:C1456145 semapv:UnspecifiedMatching MONDO:0005593 chronic periodontitis skos:exactMatch EFO:0006343 semapv:UnspecifiedMatching MONDO:0005593 chronic periodontitis skos:exactMatch ICD10CM:K05.3 Chronic periodontitis semapv:UnspecifiedMatching MONDO:0005593 chronic periodontitis skos:exactMatch NCIT:C35326 Chronic Periodontitis semapv:UnspecifiedMatching MONDO:0005593 chronic periodontitis skos:exactMatch SCTID:5689008 semapv:UnspecifiedMatching MONDO:0005593 chronic periodontitis skos:exactMatch icd11.foundation:1242548497 Chronic periodontitis semapv:UnspecifiedMatching MONDO:0005593 chronic periodontitis skos:exactMatch mesh:D055113 semapv:UnspecifiedMatching MONDO:0005594 severe cutaneous adverse reaction skos:exactMatch EFO:0006346 semapv:UnspecifiedMatching MONDO:0005594 severe cutaneous adverse reaction skos:exactMatch MEDGEN:1843455 semapv:UnspecifiedMatching MONDO:0005594 severe cutaneous adverse reaction skos:exactMatch UMLS:C5554042 semapv:UnspecifiedMatching MONDO:0005594 severe cutaneous adverse reaction skos:exactMatch mesh:D002921 semapv:UnspecifiedMatching MONDO:0005595 laryngeal squamous cell carcinoma skos:exactMatch DOID:2876 laryngeal squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0005595 laryngeal squamous cell carcinoma skos:exactMatch EFO:0006352 semapv:UnspecifiedMatching MONDO:0005595 laryngeal squamous cell carcinoma skos:exactMatch MEDGEN:83630 semapv:UnspecifiedMatching MONDO:0005595 laryngeal squamous cell carcinoma skos:exactMatch NCIT:C4044 Laryngeal Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0005595 laryngeal squamous cell carcinoma skos:exactMatch Orphanet:494550 Squamous cell carcinoma of the larynx semapv:UnspecifiedMatching MONDO:0005595 laryngeal squamous cell carcinoma skos:exactMatch SCTID:405822008 semapv:UnspecifiedMatching MONDO:0005595 laryngeal squamous cell carcinoma skos:exactMatch UMLS:C0280324 semapv:UnspecifiedMatching MONDO:0005596 cystadenocarcinoma skos:exactMatch DOID:3111 cystadenocarcinoma semapv:UnspecifiedMatching MONDO:0005596 cystadenocarcinoma skos:exactMatch EFO:0006387 semapv:UnspecifiedMatching MONDO:0005596 cystadenocarcinoma skos:exactMatch MEDGEN:41385 semapv:UnspecifiedMatching MONDO:0005596 cystadenocarcinoma skos:exactMatch NCIT:C2971 Cystadenocarcinoma semapv:UnspecifiedMatching MONDO:0005596 cystadenocarcinoma skos:exactMatch UMLS:C0010631 semapv:UnspecifiedMatching MONDO:0005596 cystadenocarcinoma skos:exactMatch mesh:D003536 semapv:UnspecifiedMatching MONDO:0005597 cystic renal cell carcinoma skos:exactMatch EFO:0006388 semapv:UnspecifiedMatching MONDO:0005598 dopaminergic neuroblastoma skos:exactMatch EFO:0006391 semapv:UnspecifiedMatching MONDO:0005599 malignant epithelioid mesothelioma skos:exactMatch DOID:4489 malignant epithelial mesothelioma semapv:UnspecifiedMatching MONDO:0005599 malignant epithelioid mesothelioma skos:exactMatch EFO:0006452 semapv:UnspecifiedMatching MONDO:0005599 malignant epithelioid mesothelioma skos:exactMatch MEDGEN:163578 semapv:UnspecifiedMatching MONDO:0005599 malignant epithelioid mesothelioma skos:exactMatch NCIT:C7985 Epithelioid Mesothelioma semapv:UnspecifiedMatching MONDO:0005599 malignant epithelioid mesothelioma skos:exactMatch UMLS:C0862312 semapv:UnspecifiedMatching MONDO:0005601 ovarian mucinous adenocarcinoma skos:exactMatch DOID:3606 ovarian mucinous adenocarcinoma semapv:UnspecifiedMatching MONDO:0005601 ovarian mucinous adenocarcinoma skos:exactMatch EFO:0006462 semapv:UnspecifiedMatching MONDO:0005601 ovarian mucinous adenocarcinoma skos:exactMatch MEDGEN:235418 semapv:UnspecifiedMatching MONDO:0005601 ovarian mucinous adenocarcinoma skos:exactMatch NCIT:C5243 Ovarian Mucinous Adenocarcinoma semapv:UnspecifiedMatching MONDO:0005601 ovarian mucinous adenocarcinoma skos:exactMatch Orphanet:398961 Mucinous adenocarcinoma of ovary semapv:UnspecifiedMatching MONDO:0005601 ovarian mucinous adenocarcinoma skos:exactMatch UMLS:C1335167 semapv:UnspecifiedMatching MONDO:0005601 ovarian mucinous adenocarcinoma skos:exactMatch icd11.foundation:869438441 Mucinous adenocarcinoma of ovary semapv:UnspecifiedMatching MONDO:0005602 ovarian teratoma skos:exactMatch DOID:5567 ovarian germ cell teratoma semapv:UnspecifiedMatching MONDO:0005602 ovarian teratoma skos:exactMatch EFO:0006463 semapv:UnspecifiedMatching MONDO:0005602 ovarian teratoma skos:exactMatch MEDGEN:76072 semapv:UnspecifiedMatching MONDO:0005602 ovarian teratoma skos:exactMatch NCIT:C8110 Ovarian Teratoma semapv:UnspecifiedMatching MONDO:0005602 ovarian teratoma skos:exactMatch SCTID:716077006 semapv:UnspecifiedMatching MONDO:0005602 ovarian teratoma skos:exactMatch UMLS:C0280131 semapv:UnspecifiedMatching MONDO:0005602 ovarian teratoma skos:exactMatch icd11.foundation:1752240825 Ovarian teratoma semapv:UnspecifiedMatching MONDO:0005603 obsolete pancreatic tubular adenocarcinoma skos:exactMatch EFO:0006471 semapv:UnspecifiedMatching MONDO:0005605 transitional cell papilloma skos:exactMatch DOID:2670 transitional papilloma semapv:UnspecifiedMatching MONDO:0005605 transitional cell papilloma skos:exactMatch EFO:0006497 semapv:UnspecifiedMatching MONDO:0005605 transitional cell papilloma skos:exactMatch MEDGEN:137734 semapv:UnspecifiedMatching MONDO:0005605 transitional cell papilloma skos:exactMatch UMLS:C0334266 semapv:UnspecifiedMatching MONDO:0005606 tubular adenocarcinoma skos:exactMatch DOID:4929 tubular adenocarcinoma semapv:UnspecifiedMatching MONDO:0005606 tubular adenocarcinoma skos:exactMatch EFO:0006500 semapv:UnspecifiedMatching MONDO:0005606 tubular adenocarcinoma skos:exactMatch MEDGEN:61428 semapv:UnspecifiedMatching MONDO:0005606 tubular adenocarcinoma skos:exactMatch NCIT:C65192 Tubular Adenocarcinoma semapv:UnspecifiedMatching MONDO:0005606 tubular adenocarcinoma skos:exactMatch UMLS:C0205645 semapv:UnspecifiedMatching MONDO:0005607 chronic bronchitis skos:exactMatch EFO:0006505 semapv:UnspecifiedMatching MONDO:0005607 chronic bronchitis skos:exactMatch MEDGEN:3084 semapv:UnspecifiedMatching MONDO:0005607 chronic bronchitis skos:exactMatch NCIT:C26722 Chronic Bronchitis semapv:UnspecifiedMatching MONDO:0005607 chronic bronchitis skos:exactMatch SCTID:63480004 semapv:UnspecifiedMatching MONDO:0005607 chronic bronchitis skos:exactMatch UMLS:C0008677 semapv:UnspecifiedMatching MONDO:0005607 chronic bronchitis skos:exactMatch icd11.foundation:290835130 Chronic bronchitis semapv:UnspecifiedMatching MONDO:0005607 chronic bronchitis skos:exactMatch mesh:D029481 semapv:UnspecifiedMatching MONDO:0005608 varicella zoster infection skos:exactMatch EFO:0006509 semapv:UnspecifiedMatching MONDO:0005608 varicella zoster infection skos:exactMatch MEDGEN:668886 semapv:UnspecifiedMatching MONDO:0005608 varicella zoster infection skos:exactMatch NCIT:C96407 Varicella Zoster Infection semapv:UnspecifiedMatching MONDO:0005608 varicella zoster infection skos:exactMatch SCTID:309465005 semapv:UnspecifiedMatching MONDO:0005608 varicella zoster infection skos:exactMatch UMLS:C0586989 semapv:UnspecifiedMatching MONDO:0005609 herpes zoster skos:exactMatch DOID:8536 herpes zoster semapv:UnspecifiedMatching MONDO:0005609 herpes zoster skos:exactMatch EFO:0006510 semapv:UnspecifiedMatching MONDO:0005609 herpes zoster skos:exactMatch ICD10CM:B02 Zoster [herpes zoster] semapv:UnspecifiedMatching MONDO:0005609 herpes zoster skos:exactMatch MEDGEN:42437 semapv:UnspecifiedMatching MONDO:0005609 herpes zoster skos:exactMatch NCIT:C71079 Herpes Zoster semapv:UnspecifiedMatching MONDO:0005609 herpes zoster skos:exactMatch SCTID:4740000 semapv:UnspecifiedMatching MONDO:0005609 herpes zoster skos:exactMatch UMLS:C0019360 semapv:UnspecifiedMatching MONDO:0005609 herpes zoster skos:exactMatch mesh:D006562 semapv:UnspecifiedMatching MONDO:0005610 Kashin-Beck disease skos:exactMatch EFO:0006511 semapv:UnspecifiedMatching MONDO:0005610 Kashin-Beck disease skos:exactMatch MEDGEN:412531 semapv:UnspecifiedMatching MONDO:0005610 Kashin-Beck disease skos:exactMatch SCTID:270505009 semapv:UnspecifiedMatching MONDO:0005610 Kashin-Beck disease skos:exactMatch UMLS:C2745963 semapv:UnspecifiedMatching MONDO:0005610 Kashin-Beck disease skos:exactMatch icd11.foundation:211396970 Kashin-Beck disease semapv:UnspecifiedMatching MONDO:0005610 Kashin-Beck disease skos:exactMatch mesh:D057767 semapv:UnspecifiedMatching MONDO:0005611 bladder transitional cell carcinoma skos:exactMatch DOID:4006 bladder urothelial carcinoma semapv:UnspecifiedMatching MONDO:0005611 bladder transitional cell carcinoma skos:exactMatch EFO:0006544 semapv:UnspecifiedMatching MONDO:0005611 bladder transitional cell carcinoma skos:exactMatch MEDGEN:76013 semapv:UnspecifiedMatching MONDO:0005611 bladder transitional cell carcinoma skos:exactMatch NCIT:C39851 Bladder Urothelial Carcinoma semapv:UnspecifiedMatching MONDO:0005611 bladder transitional cell carcinoma skos:exactMatch SCTID:255109008 semapv:UnspecifiedMatching MONDO:0005611 bladder transitional cell carcinoma skos:exactMatch UMLS:C0279680 semapv:UnspecifiedMatching MONDO:0005613 mesonephric adenocarcinoma skos:exactMatch EFO:0006719 semapv:UnspecifiedMatching MONDO:0005613 mesonephric adenocarcinoma skos:exactMatch MEDGEN:44373 semapv:UnspecifiedMatching MONDO:0005613 mesonephric adenocarcinoma skos:exactMatch NCIT:C4072 Mesonephric Adenocarcinoma semapv:UnspecifiedMatching MONDO:0005613 mesonephric adenocarcinoma skos:exactMatch UMLS:C0025490 semapv:UnspecifiedMatching MONDO:0005614 pancreatic adenosquamous carcinoma skos:exactMatch DOID:5637 pancreatic adenosquamous carcinoma semapv:UnspecifiedMatching MONDO:0005614 pancreatic adenosquamous carcinoma skos:exactMatch EFO:0006732 semapv:UnspecifiedMatching MONDO:0005614 pancreatic adenosquamous carcinoma skos:exactMatch MEDGEN:277489 semapv:UnspecifiedMatching MONDO:0005614 pancreatic adenosquamous carcinoma skos:exactMatch NCIT:C5721 Pancreatic Adenosquamous Carcinoma semapv:UnspecifiedMatching MONDO:0005614 pancreatic adenosquamous carcinoma skos:exactMatch UMLS:C1335299 semapv:UnspecifiedMatching MONDO:0005615 plasmacytoma skos:exactMatch DOID:3721 plasmacytoma semapv:UnspecifiedMatching MONDO:0005615 plasmacytoma skos:exactMatch EFO:0006738 semapv:UnspecifiedMatching MONDO:0005615 plasmacytoma skos:exactMatch MEDGEN:18506 semapv:UnspecifiedMatching MONDO:0005615 plasmacytoma skos:exactMatch NCIT:C9349 Plasmacytoma semapv:UnspecifiedMatching MONDO:0005615 plasmacytoma skos:exactMatch Orphanet:86855 Plasmacytoma semapv:UnspecifiedMatching MONDO:0005615 plasmacytoma skos:exactMatch SCTID:415112005 semapv:UnspecifiedMatching MONDO:0005615 plasmacytoma skos:exactMatch UMLS:C0032131 semapv:UnspecifiedMatching MONDO:0005615 plasmacytoma skos:exactMatch icd11.foundation:1811140613 Solitary plasmacytoma semapv:UnspecifiedMatching MONDO:0005615 plasmacytoma skos:exactMatch mesh:D010954 semapv:UnspecifiedMatching MONDO:0005616 pulmonary mucoepidermoid carcinoma skos:exactMatch DOID:0050932 lung mucoepidermoid carcinoma semapv:UnspecifiedMatching MONDO:0005616 pulmonary mucoepidermoid carcinoma skos:exactMatch EFO:0006740 semapv:UnspecifiedMatching MONDO:0005616 pulmonary mucoepidermoid carcinoma skos:exactMatch MEDGEN:310949 semapv:UnspecifiedMatching MONDO:0005616 pulmonary mucoepidermoid carcinoma skos:exactMatch NCIT:C45544 Lung Mucoepidermoid Carcinoma semapv:UnspecifiedMatching MONDO:0005616 pulmonary mucoepidermoid carcinoma skos:exactMatch UMLS:C1708778 semapv:UnspecifiedMatching MONDO:0005617 undifferentiated carcinoma skos:exactMatch EFO:0006772 semapv:UnspecifiedMatching MONDO:0005617 undifferentiated carcinoma skos:exactMatch MEDGEN:60010 semapv:UnspecifiedMatching MONDO:0005617 undifferentiated carcinoma skos:exactMatch NCIT:C3692 Undifferentiated Carcinoma semapv:UnspecifiedMatching MONDO:0005617 undifferentiated carcinoma skos:exactMatch UMLS:C0205698 semapv:UnspecifiedMatching MONDO:0005618 anxiety disorder skos:exactMatch DOID:2030 anxiety disorder semapv:UnspecifiedMatching MONDO:0005618 anxiety disorder skos:exactMatch EFO:0006788 semapv:UnspecifiedMatching MONDO:0005618 anxiety disorder skos:exactMatch MEDGEN:361 semapv:UnspecifiedMatching MONDO:0005618 anxiety disorder skos:exactMatch NCIT:C2878 Anxiety Disorder semapv:UnspecifiedMatching MONDO:0005618 anxiety disorder skos:exactMatch SCTID:197480006 semapv:UnspecifiedMatching MONDO:0005618 anxiety disorder skos:exactMatch UMLS:C0003469 semapv:UnspecifiedMatching MONDO:0005618 anxiety disorder skos:exactMatch mesh:D001008 semapv:UnspecifiedMatching MONDO:0005619 typhoid fever skos:exactMatch DOID:13258 typhoid fever semapv:UnspecifiedMatching MONDO:0005619 typhoid fever skos:exactMatch EFO:0006789 semapv:UnspecifiedMatching MONDO:0005619 typhoid fever skos:exactMatch ICD10CM:A01.0 Typhoid fever semapv:UnspecifiedMatching MONDO:0005619 typhoid fever skos:exactMatch MEDGEN:11973 semapv:UnspecifiedMatching MONDO:0005619 typhoid fever skos:exactMatch NCIT:C35089 Typhoid Fever semapv:UnspecifiedMatching MONDO:0005619 typhoid fever skos:exactMatch Orphanet:99745 Typhoid semapv:UnspecifiedMatching MONDO:0005619 typhoid fever skos:exactMatch SCTID:4834000 semapv:UnspecifiedMatching MONDO:0005619 typhoid fever skos:exactMatch UMLS:C0041466 semapv:UnspecifiedMatching MONDO:0005619 typhoid fever skos:exactMatch icd11.foundation:1528414070 Typhoid fever semapv:UnspecifiedMatching MONDO:0005619 typhoid fever skos:exactMatch mesh:D014435 semapv:UnspecifiedMatching MONDO:0005620 cerebral amyloid angiopathy skos:exactMatch DOID:9246 cerebral amyloid angiopathy semapv:UnspecifiedMatching MONDO:0005620 cerebral amyloid angiopathy skos:exactMatch EFO:0006790 semapv:UnspecifiedMatching MONDO:0005620 cerebral amyloid angiopathy skos:exactMatch ICD10CM:I68.0 Cerebral amyloid angiopathy semapv:UnspecifiedMatching MONDO:0005620 cerebral amyloid angiopathy skos:exactMatch MEDGEN:267610 semapv:UnspecifiedMatching MONDO:0005620 cerebral amyloid angiopathy skos:exactMatch NCIT:C84625 Cerebral Amyloid Angiopathy semapv:UnspecifiedMatching MONDO:0005620 cerebral amyloid angiopathy skos:exactMatch Orphanet:85458 Cerebral Amyloid Angiopathy semapv:UnspecifiedMatching MONDO:0005620 cerebral amyloid angiopathy skos:exactMatch SCTID:230724001 semapv:UnspecifiedMatching MONDO:0005620 cerebral amyloid angiopathy skos:exactMatch UMLS:C1510489 semapv:UnspecifiedMatching MONDO:0005620 cerebral amyloid angiopathy skos:exactMatch mesh:D016657 semapv:UnspecifiedMatching MONDO:0005621 vascular brain injury skos:exactMatch EFO:0006791 semapv:UnspecifiedMatching MONDO:0005621 vascular brain injury skos:exactMatch mesh:D020214 semapv:UnspecifiedMatching MONDO:0005623 autoimmune thyroid disease skos:exactMatch EFO:0006812 semapv:UnspecifiedMatching MONDO:0005623 autoimmune thyroid disease skos:exactMatch MEDGEN:183088 semapv:UnspecifiedMatching MONDO:0005623 autoimmune thyroid disease skos:exactMatch UMLS:C0920350 semapv:UnspecifiedMatching MONDO:0005623 autoimmune thyroid disease skos:exactMatch mesh:D013967 semapv:UnspecifiedMatching MONDO:0005624 atrophic thyroiditis skos:exactMatch EFO:0006813 semapv:UnspecifiedMatching MONDO:0005624 atrophic thyroiditis skos:exactMatch MEDGEN:536775 semapv:UnspecifiedMatching MONDO:0005624 atrophic thyroiditis skos:exactMatch SCTID:83664006 semapv:UnspecifiedMatching MONDO:0005624 atrophic thyroiditis skos:exactMatch UMLS:C0238183 semapv:UnspecifiedMatching MONDO:0005625 cerebral malaria skos:exactMatch DOID:14069 cerebral malaria semapv:UnspecifiedMatching MONDO:0005625 cerebral malaria skos:exactMatch EFO:0006857 semapv:UnspecifiedMatching MONDO:0005625 cerebral malaria skos:exactMatch MEDGEN:44258 semapv:UnspecifiedMatching MONDO:0005625 cerebral malaria skos:exactMatch NCIT:C128373 Cerebral Malaria semapv:UnspecifiedMatching MONDO:0005625 cerebral malaria skos:exactMatch SCTID:53622003 semapv:UnspecifiedMatching MONDO:0005625 cerebral malaria skos:exactMatch UMLS:C0024534 semapv:UnspecifiedMatching MONDO:0005625 cerebral malaria skos:exactMatch mesh:D016779 semapv:UnspecifiedMatching MONDO:0005626 epithelial neoplasm skos:exactMatch EFO:0006858 semapv:UnspecifiedMatching MONDO:0005626 epithelial neoplasm skos:exactMatch MEDGEN:277963 semapv:UnspecifiedMatching MONDO:0005626 epithelial neoplasm skos:exactMatch NCIT:C3709 Epithelial Neoplasm semapv:UnspecifiedMatching MONDO:0005626 epithelial neoplasm skos:exactMatch SCTID:118285006 semapv:UnspecifiedMatching MONDO:0005626 epithelial neoplasm skos:exactMatch UMLS:C1368683 semapv:UnspecifiedMatching MONDO:0005626 epithelial neoplasm skos:exactMatch mesh:D009375 semapv:UnspecifiedMatching MONDO:0005627 head and neck cancer skos:exactMatch DOID:11934 head and neck cancer semapv:UnspecifiedMatching MONDO:0005627 head and neck cancer skos:exactMatch EFO:0006859 semapv:UnspecifiedMatching MONDO:0005627 head and neck cancer skos:exactMatch MEDGEN:78920 semapv:UnspecifiedMatching MONDO:0005627 head and neck cancer skos:exactMatch NCIT:C4013 Malignant Head and Neck Neoplasm semapv:UnspecifiedMatching MONDO:0005627 head and neck cancer skos:exactMatch UMLS:C0278996 semapv:UnspecifiedMatching MONDO:0005628 male breast carcinoma skos:exactMatch DOID:1614 male breast cancer semapv:UnspecifiedMatching MONDO:0005628 male breast carcinoma skos:exactMatch EFO:0006861 semapv:UnspecifiedMatching MONDO:0005628 male breast carcinoma skos:exactMatch MEDGEN:68650 semapv:UnspecifiedMatching MONDO:0005628 male breast carcinoma skos:exactMatch NCIT:C3862 Male Breast Carcinoma semapv:UnspecifiedMatching MONDO:0005628 male breast carcinoma skos:exactMatch SCTID:372095001 semapv:UnspecifiedMatching MONDO:0005628 male breast carcinoma skos:exactMatch UMLS:C0238033 semapv:UnspecifiedMatching MONDO:0005628 male breast carcinoma skos:exactMatch mesh:D018567 semapv:UnspecifiedMatching MONDO:0005629 Acanthamoeba keratitis skos:exactMatch EFO:0007126 semapv:UnspecifiedMatching MONDO:0005629 Acanthamoeba keratitis skos:exactMatch MEDGEN:1268 semapv:UnspecifiedMatching MONDO:0005629 Acanthamoeba keratitis skos:exactMatch NCIT:C50450 Acanthamoeba Keratitis semapv:UnspecifiedMatching MONDO:0005629 Acanthamoeba keratitis skos:exactMatch Orphanet:67043 Amoebic keratitis semapv:UnspecifiedMatching MONDO:0005629 Acanthamoeba keratitis skos:exactMatch SCTID:231896005 semapv:UnspecifiedMatching MONDO:0005629 Acanthamoeba keratitis skos:exactMatch UMLS:C0000880 semapv:UnspecifiedMatching MONDO:0005629 Acanthamoeba keratitis skos:exactMatch icd11.foundation:49744193 Acanthamoeba keratitis semapv:UnspecifiedMatching MONDO:0005629 Acanthamoeba keratitis skos:exactMatch mesh:D015823 semapv:UnspecifiedMatching MONDO:0005630 actinobacillosis skos:exactMatch DOID:4974 actinobacillosis semapv:UnspecifiedMatching MONDO:0005630 actinobacillosis skos:exactMatch SCTID:16140007 semapv:UnspecifiedMatching MONDO:0005630 actinobacillosis skos:exactMatch mesh:D000187 semapv:UnspecifiedMatching MONDO:0005631 actinomycosis skos:exactMatch DOID:8478 actinomycosis semapv:UnspecifiedMatching MONDO:0005631 actinomycosis skos:exactMatch EFO:0007128 semapv:UnspecifiedMatching MONDO:0005631 actinomycosis skos:exactMatch ICD10CM:A42 Actinomycosis semapv:UnspecifiedMatching MONDO:0005631 actinomycosis skos:exactMatch ICD10WHO:A42 Actinomycosis semapv:UnspecifiedMatching MONDO:0005631 actinomycosis skos:exactMatch MEDGEN:1733 semapv:UnspecifiedMatching MONDO:0005631 actinomycosis skos:exactMatch NCIT:C34350 Actinomycosis semapv:UnspecifiedMatching MONDO:0005631 actinomycosis skos:exactMatch Orphanet:457095 Actinomycosis semapv:UnspecifiedMatching MONDO:0005631 actinomycosis skos:exactMatch UMLS:C0001261 semapv:UnspecifiedMatching MONDO:0005631 actinomycosis skos:exactMatch icd11.foundation:1697630330 Actinomycosis semapv:UnspecifiedMatching MONDO:0005631 actinomycosis skos:exactMatch mesh:D000196 semapv:UnspecifiedMatching MONDO:0005632 acute chest syndrome skos:exactMatch DOID:1584 acute chest syndrome semapv:UnspecifiedMatching MONDO:0005632 acute chest syndrome skos:exactMatch EFO:0007129 semapv:UnspecifiedMatching MONDO:0005632 acute chest syndrome skos:exactMatch MEDGEN:196643 semapv:UnspecifiedMatching MONDO:0005632 acute chest syndrome skos:exactMatch NCIT:C138179 Acute Chest Syndrome semapv:UnspecifiedMatching MONDO:0005632 acute chest syndrome skos:exactMatch SCTID:372146004 semapv:UnspecifiedMatching MONDO:0005632 acute chest syndrome skos:exactMatch UMLS:C0742343 semapv:UnspecifiedMatching MONDO:0005632 acute chest syndrome skos:exactMatch mesh:D056586 semapv:UnspecifiedMatching MONDO:0005634 acute hemorrhagic conjunctivitis skos:exactMatch DOID:11227 acute hemorrhagic conjunctivitis semapv:UnspecifiedMatching MONDO:0005634 acute hemorrhagic conjunctivitis skos:exactMatch EFO:0007131 semapv:UnspecifiedMatching MONDO:0005634 acute hemorrhagic conjunctivitis skos:exactMatch MEDGEN:1094 semapv:UnspecifiedMatching MONDO:0005634 acute hemorrhagic conjunctivitis skos:exactMatch NCIT:C34505 Acute Hemorrhagic Conjunctivitis semapv:UnspecifiedMatching MONDO:0005634 acute hemorrhagic conjunctivitis skos:exactMatch SCTID:398264003 semapv:UnspecifiedMatching MONDO:0005634 acute hemorrhagic conjunctivitis skos:exactMatch UMLS:C0009765 semapv:UnspecifiedMatching MONDO:0005634 acute hemorrhagic conjunctivitis skos:exactMatch mesh:D003232 semapv:UnspecifiedMatching MONDO:0005635 adenomyoma skos:exactMatch DOID:2609 adenomyoma semapv:UnspecifiedMatching MONDO:0005635 adenomyoma skos:exactMatch EFO:0007133 semapv:UnspecifiedMatching MONDO:0005635 adenomyoma skos:exactMatch MEDGEN:64617 semapv:UnspecifiedMatching MONDO:0005635 adenomyoma skos:exactMatch NCIT:C3726 Adenomyoma semapv:UnspecifiedMatching MONDO:0005635 adenomyoma skos:exactMatch UMLS:C0206622 semapv:UnspecifiedMatching MONDO:0005635 adenomyoma skos:exactMatch mesh:D018194 semapv:UnspecifiedMatching MONDO:0005636 adenosarcoma skos:exactMatch DOID:1974 adenosarcoma semapv:UnspecifiedMatching MONDO:0005636 adenosarcoma skos:exactMatch EFO:0007134 semapv:UnspecifiedMatching MONDO:0005636 adenosarcoma skos:exactMatch MEDGEN:126 semapv:UnspecifiedMatching MONDO:0005636 adenosarcoma skos:exactMatch NCIT:C9474 Adenosarcoma semapv:UnspecifiedMatching MONDO:0005636 adenosarcoma skos:exactMatch UMLS:C0001442 semapv:UnspecifiedMatching MONDO:0005636 adenosarcoma skos:exactMatch mesh:D018195 semapv:UnspecifiedMatching MONDO:0005638 agnosia skos:exactMatch DOID:4090 agnosia semapv:UnspecifiedMatching MONDO:0005638 agnosia skos:exactMatch EFO:0007136 semapv:UnspecifiedMatching MONDO:0005638 agnosia skos:exactMatch ICD10CM:R48.1 Agnosia semapv:UnspecifiedMatching MONDO:0005638 agnosia skos:exactMatch MEDGEN:174 semapv:UnspecifiedMatching MONDO:0005638 agnosia skos:exactMatch NCIT:C84542 Agnosia semapv:UnspecifiedMatching MONDO:0005638 agnosia skos:exactMatch SCTID:68345001 semapv:UnspecifiedMatching MONDO:0005638 agnosia skos:exactMatch UMLS:C0001816 semapv:UnspecifiedMatching MONDO:0005638 agnosia skos:exactMatch icd11.foundation:1315065296 Agnosia semapv:UnspecifiedMatching MONDO:0005638 agnosia skos:exactMatch mesh:D000377 semapv:UnspecifiedMatching MONDO:0005639 AIDS related complex skos:exactMatch EFO:0007137 semapv:UnspecifiedMatching MONDO:0005639 AIDS related complex skos:exactMatch MEDGEN:1793 semapv:UnspecifiedMatching MONDO:0005639 AIDS related complex skos:exactMatch UMLS:C0001857 semapv:UnspecifiedMatching MONDO:0005639 AIDS related complex skos:exactMatch mesh:D000386 semapv:UnspecifiedMatching MONDO:0005640 akinetic mutism skos:exactMatch DOID:4267 akinetic mutism semapv:UnspecifiedMatching MONDO:0005640 akinetic mutism skos:exactMatch EFO:0007138 semapv:UnspecifiedMatching MONDO:0005640 akinetic mutism skos:exactMatch MEDGEN:7942 semapv:UnspecifiedMatching MONDO:0005640 akinetic mutism skos:exactMatch SCTID:53333005 semapv:UnspecifiedMatching MONDO:0005640 akinetic mutism skos:exactMatch UMLS:C0001889 semapv:UnspecifiedMatching MONDO:0005640 akinetic mutism skos:exactMatch icd11.foundation:1448580674 Akinetic mutism semapv:UnspecifiedMatching MONDO:0005640 akinetic mutism skos:exactMatch mesh:D000405 semapv:UnspecifiedMatching MONDO:0005641 aleutian mink disease skos:exactMatch EFO:0007139 semapv:UnspecifiedMatching MONDO:0005642 atopic conjunctivitis skos:exactMatch DOID:11204 allergic conjunctivitis semapv:UnspecifiedMatching MONDO:0005642 atopic conjunctivitis skos:exactMatch EFO:0007141 semapv:UnspecifiedMatching MONDO:0005642 atopic conjunctivitis skos:exactMatch MEDGEN:3590 semapv:UnspecifiedMatching MONDO:0005642 atopic conjunctivitis skos:exactMatch NCIT:C34506 Atopic Conjunctivitis semapv:UnspecifiedMatching MONDO:0005642 atopic conjunctivitis skos:exactMatch SCTID:473460002 semapv:UnspecifiedMatching MONDO:0005642 atopic conjunctivitis skos:exactMatch UMLS:C0009766 semapv:UnspecifiedMatching MONDO:0005643 Alphavirus infectious disease skos:exactMatch EFO:0007142 semapv:UnspecifiedMatching MONDO:0005643 Alphavirus infectious disease skos:exactMatch MEDGEN:64650 semapv:UnspecifiedMatching MONDO:0005643 Alphavirus infectious disease skos:exactMatch UMLS:C0206752 semapv:UnspecifiedMatching MONDO:0005643 Alphavirus infectious disease skos:exactMatch mesh:D018354 semapv:UnspecifiedMatching MONDO:0005644 amebiasis skos:exactMatch DOID:9181 amebiasis semapv:UnspecifiedMatching MONDO:0005644 amebiasis skos:exactMatch EFO:0007144 semapv:UnspecifiedMatching MONDO:0005644 amebiasis skos:exactMatch ICD10CM:A06 Amebiasis semapv:UnspecifiedMatching MONDO:0005644 amebiasis skos:exactMatch MEDGEN:1857 semapv:UnspecifiedMatching MONDO:0005644 amebiasis skos:exactMatch NCIT:C84551 Amebiasis semapv:UnspecifiedMatching MONDO:0005644 amebiasis skos:exactMatch UMLS:C0002438 semapv:UnspecifiedMatching MONDO:0005644 amebiasis skos:exactMatch mesh:D000562 semapv:UnspecifiedMatching MONDO:0005645 ancylostomiasis skos:exactMatch DOID:12841 ancylostomiasis semapv:UnspecifiedMatching MONDO:0005645 ancylostomiasis skos:exactMatch EFO:0007145 semapv:UnspecifiedMatching MONDO:0005645 ancylostomiasis skos:exactMatch ICD10CM:B76.0 Ancylostomiasis semapv:UnspecifiedMatching MONDO:0005645 ancylostomiasis skos:exactMatch MEDGEN:1522 semapv:UnspecifiedMatching MONDO:0005645 ancylostomiasis skos:exactMatch NCIT:C35805 Ancylostomiasis semapv:UnspecifiedMatching MONDO:0005645 ancylostomiasis skos:exactMatch Orphanet:78 Ankylostomiasis semapv:UnspecifiedMatching MONDO:0005645 ancylostomiasis skos:exactMatch SCTID:63479002 semapv:UnspecifiedMatching MONDO:0005645 ancylostomiasis skos:exactMatch UMLS:C0002831 semapv:UnspecifiedMatching MONDO:0005645 ancylostomiasis skos:exactMatch icd11.foundation:1542252776 Ancylostomiasis semapv:UnspecifiedMatching MONDO:0005645 ancylostomiasis skos:exactMatch mesh:D000724 semapv:UnspecifiedMatching MONDO:0005647 anogenital human papillomavirus infection skos:exactMatch DOID:11168 anogenital venereal wart semapv:UnspecifiedMatching MONDO:0005647 anogenital human papillomavirus infection skos:exactMatch EFO:0007147 semapv:UnspecifiedMatching MONDO:0005647 anogenital human papillomavirus infection skos:exactMatch MEDGEN:108217 semapv:UnspecifiedMatching MONDO:0005647 anogenital human papillomavirus infection skos:exactMatch NCIT:C4820 Anogenital Human Papillomavirus Infection semapv:UnspecifiedMatching MONDO:0005647 anogenital human papillomavirus infection skos:exactMatch SCTID:266113007 semapv:UnspecifiedMatching MONDO:0005647 anogenital human papillomavirus infection skos:exactMatch UMLS:C0554632 semapv:UnspecifiedMatching MONDO:0005647 anogenital human papillomavirus infection skos:exactMatch mesh:D003218 semapv:UnspecifiedMatching MONDO:0005648 aortic valve insufficiency skos:exactMatch DOID:57 aortic valve insufficiency semapv:UnspecifiedMatching MONDO:0005648 aortic valve insufficiency skos:exactMatch EFO:0007148 semapv:UnspecifiedMatching MONDO:0005648 aortic valve insufficiency skos:exactMatch ICD10CM:I06.1 Rheumatic aortic insufficiency semapv:UnspecifiedMatching MONDO:0005648 aortic valve insufficiency skos:exactMatch MEDGEN:8153 semapv:UnspecifiedMatching MONDO:0005648 aortic valve insufficiency skos:exactMatch NCIT:C51223 Aortic Valve Insufficiency semapv:UnspecifiedMatching MONDO:0005648 aortic valve insufficiency skos:exactMatch SCTID:78031003 semapv:UnspecifiedMatching MONDO:0005648 aortic valve insufficiency skos:exactMatch UMLS:C0003504 semapv:UnspecifiedMatching MONDO:0005648 aortic valve insufficiency skos:exactMatch icd11.foundation:1548485475 Aortic valve insufficiency semapv:UnspecifiedMatching MONDO:0005648 aortic valve insufficiency skos:exactMatch mesh:D001022 semapv:UnspecifiedMatching MONDO:0005649 appendicitis skos:exactMatch DOID:8337 appendicitis semapv:UnspecifiedMatching MONDO:0005649 appendicitis skos:exactMatch EFO:0007149 semapv:UnspecifiedMatching MONDO:0005649 appendicitis skos:exactMatch MEDGEN:1630 semapv:UnspecifiedMatching MONDO:0005649 appendicitis skos:exactMatch NCIT:C35145 Appendicitis semapv:UnspecifiedMatching MONDO:0005649 appendicitis skos:exactMatch SCTID:74400008 semapv:UnspecifiedMatching MONDO:0005649 appendicitis skos:exactMatch UMLS:C0003615 semapv:UnspecifiedMatching MONDO:0005649 appendicitis skos:exactMatch icd11.foundation:1881255733 Appendicitis semapv:UnspecifiedMatching MONDO:0005649 appendicitis skos:exactMatch mesh:D001064 semapv:UnspecifiedMatching MONDO:0005650 Arenaviridae infectious disease skos:exactMatch DOID:3944 Arenaviridae infectious disease semapv:UnspecifiedMatching MONDO:0005650 Arenaviridae infectious disease skos:exactMatch EFO:0007150 semapv:UnspecifiedMatching MONDO:0005650 Arenaviridae infectious disease skos:exactMatch SCTID:3303004 semapv:UnspecifiedMatching MONDO:0005650 Arenaviridae infectious disease skos:exactMatch mesh:D001117 semapv:UnspecifiedMatching MONDO:0005651 arenavirus hemorrhagic fever skos:exactMatch ICD10CM:A96 Arenaviral hemorrhagic fever semapv:UnspecifiedMatching MONDO:0005651 arenavirus hemorrhagic fever skos:exactMatch MEDGEN:509153 semapv:UnspecifiedMatching MONDO:0005651 arenavirus hemorrhagic fever skos:exactMatch SCTID:73730005 semapv:UnspecifiedMatching MONDO:0005651 arenavirus hemorrhagic fever skos:exactMatch UMLS:C0153112 semapv:UnspecifiedMatching MONDO:0005652 Arterivirus infectious disease skos:exactMatch EFO:0007152 semapv:UnspecifiedMatching MONDO:0005652 Arterivirus infectious disease skos:exactMatch MEDGEN:60190 semapv:UnspecifiedMatching MONDO:0005652 Arterivirus infectious disease skos:exactMatch UMLS:C0206604 semapv:UnspecifiedMatching MONDO:0005652 Arterivirus infectious disease skos:exactMatch mesh:D018174 semapv:UnspecifiedMatching MONDO:0005654 ascariasis skos:exactMatch DOID:456 ascariasis semapv:UnspecifiedMatching MONDO:0005654 ascariasis skos:exactMatch EFO:0007154 semapv:UnspecifiedMatching MONDO:0005654 ascariasis skos:exactMatch ICD10CM:B77 Ascariasis semapv:UnspecifiedMatching MONDO:0005654 ascariasis skos:exactMatch ICD10WHO:B77 Ascariasis semapv:UnspecifiedMatching MONDO:0005654 ascariasis skos:exactMatch MEDGEN:2087 semapv:UnspecifiedMatching MONDO:0005654 ascariasis skos:exactMatch NCIT:C128392 Ascariasis semapv:UnspecifiedMatching MONDO:0005654 ascariasis skos:exactMatch SCTID:2435008 semapv:UnspecifiedMatching MONDO:0005654 ascariasis skos:exactMatch UMLS:C0003950 semapv:UnspecifiedMatching MONDO:0005654 ascariasis skos:exactMatch icd11.foundation:17842540 Ascariasis semapv:UnspecifiedMatching MONDO:0005654 ascariasis skos:exactMatch mesh:D001196 semapv:UnspecifiedMatching MONDO:0005655 ascaridiasis skos:exactMatch DOID:3108 ascaridiasis semapv:UnspecifiedMatching MONDO:0005655 ascaridiasis skos:exactMatch EFO:0007155 semapv:UnspecifiedMatching MONDO:0005655 ascaridiasis skos:exactMatch MEDGEN:2089 semapv:UnspecifiedMatching MONDO:0005655 ascaridiasis skos:exactMatch SCTID:76160002 semapv:UnspecifiedMatching MONDO:0005655 ascaridiasis skos:exactMatch UMLS:C0003952 semapv:UnspecifiedMatching MONDO:0005655 ascaridiasis skos:exactMatch mesh:D001198 semapv:UnspecifiedMatching MONDO:0005656 Ascaridida infectious disease skos:exactMatch mesh:D017191 semapv:UnspecifiedMatching MONDO:0005657 aspergillosis skos:exactMatch DOID:13564 aspergillosis semapv:UnspecifiedMatching MONDO:0005657 aspergillosis skos:exactMatch EFO:0007157 semapv:UnspecifiedMatching MONDO:0005657 aspergillosis skos:exactMatch ICD10CM:B44 Aspergillosis semapv:UnspecifiedMatching MONDO:0005657 aspergillosis skos:exactMatch ICD10WHO:B44 Aspergillosis semapv:UnspecifiedMatching MONDO:0005657 aspergillosis skos:exactMatch MEDGEN:13939 semapv:UnspecifiedMatching MONDO:0005657 aspergillosis skos:exactMatch NCIT:C2886 Aspergillosis semapv:UnspecifiedMatching MONDO:0005657 aspergillosis skos:exactMatch Orphanet:1163 Aspergillosis semapv:UnspecifiedMatching MONDO:0005657 aspergillosis skos:exactMatch SCTID:65553006 semapv:UnspecifiedMatching MONDO:0005657 aspergillosis skos:exactMatch UMLS:C0004030 semapv:UnspecifiedMatching MONDO:0005657 aspergillosis skos:exactMatch icd11.foundation:1913468488 Aspergillosis semapv:UnspecifiedMatching MONDO:0005657 aspergillosis skos:exactMatch mesh:D001228 semapv:UnspecifiedMatching MONDO:0005658 Astroviridae infectious disease skos:exactMatch MEDGEN:84000 semapv:UnspecifiedMatching MONDO:0005658 Astroviridae infectious disease skos:exactMatch UMLS:C0376550 semapv:UnspecifiedMatching MONDO:0005658 Astroviridae infectious disease skos:exactMatch mesh:D019350 semapv:UnspecifiedMatching MONDO:0005659 atrophic rhinitis skos:exactMatch DOID:4731 atrophic rhinitis semapv:UnspecifiedMatching MONDO:0005659 atrophic rhinitis skos:exactMatch EFO:0007159 semapv:UnspecifiedMatching MONDO:0005659 atrophic rhinitis skos:exactMatch MEDGEN:48450 semapv:UnspecifiedMatching MONDO:0005659 atrophic rhinitis skos:exactMatch SCTID:69646003 semapv:UnspecifiedMatching MONDO:0005659 atrophic rhinitis skos:exactMatch UMLS:C0035459 semapv:UnspecifiedMatching MONDO:0005659 atrophic rhinitis skos:exactMatch mesh:D012222 semapv:UnspecifiedMatching MONDO:0005660 Avulavirus infectious disease skos:exactMatch MEDGEN:226249 semapv:UnspecifiedMatching MONDO:0005660 Avulavirus infectious disease skos:exactMatch UMLS:C1258034 semapv:UnspecifiedMatching MONDO:0005660 Avulavirus infectious disease skos:exactMatch mesh:D045463 semapv:UnspecifiedMatching MONDO:0005661 babesiosis skos:exactMatch DOID:9643 babesiosis semapv:UnspecifiedMatching MONDO:0005661 babesiosis skos:exactMatch EFO:0007162 semapv:UnspecifiedMatching MONDO:0005661 babesiosis skos:exactMatch ICD10CM:B60.0 Babesiosis semapv:UnspecifiedMatching MONDO:0005661 babesiosis skos:exactMatch MEDGEN:2523 semapv:UnspecifiedMatching MONDO:0005661 babesiosis skos:exactMatch NCIT:C84581 Babesiosis semapv:UnspecifiedMatching MONDO:0005661 babesiosis skos:exactMatch Orphanet:108 Babesiosis semapv:UnspecifiedMatching MONDO:0005661 babesiosis skos:exactMatch SCTID:21061004 semapv:UnspecifiedMatching MONDO:0005661 babesiosis skos:exactMatch UMLS:C0004576 semapv:UnspecifiedMatching MONDO:0005661 babesiosis skos:exactMatch icd11.foundation:1947003329 Babesiosis semapv:UnspecifiedMatching MONDO:0005661 babesiosis skos:exactMatch mesh:D001404 semapv:UnspecifiedMatching MONDO:0005662 balantidiasis skos:exactMatch DOID:12386 balantidiasis semapv:UnspecifiedMatching MONDO:0005662 balantidiasis skos:exactMatch EFO:0007163 semapv:UnspecifiedMatching MONDO:0005662 balantidiasis skos:exactMatch ICD10CM:A07.0 Balantidiasis semapv:UnspecifiedMatching MONDO:0005662 balantidiasis skos:exactMatch MEDGEN:2540 semapv:UnspecifiedMatching MONDO:0005662 balantidiasis skos:exactMatch NCIT:C84583 Balantidiasis semapv:UnspecifiedMatching MONDO:0005662 balantidiasis skos:exactMatch Orphanet:1223 Balantidiasis semapv:UnspecifiedMatching MONDO:0005662 balantidiasis skos:exactMatch SCTID:57725006 semapv:UnspecifiedMatching MONDO:0005662 balantidiasis skos:exactMatch UMLS:C0004692 semapv:UnspecifiedMatching MONDO:0005662 balantidiasis skos:exactMatch icd11.foundation:2090337975 Infections due to Balantidium coli semapv:UnspecifiedMatching MONDO:0005662 balantidiasis skos:exactMatch mesh:D001447 semapv:UnspecifiedMatching MONDO:0005663 Barre-Lieou syndrome skos:exactMatch DOID:6692 Barre-Lieou syndrome semapv:UnspecifiedMatching MONDO:0005663 Barre-Lieou syndrome skos:exactMatch ICD10CM:M53.0 Cervicocranial syndrome semapv:UnspecifiedMatching MONDO:0005663 Barre-Lieou syndrome skos:exactMatch MEDGEN:87688 semapv:UnspecifiedMatching MONDO:0005663 Barre-Lieou syndrome skos:exactMatch NCIT:C34411 Cervicocranial Syndrome semapv:UnspecifiedMatching MONDO:0005663 Barre-Lieou syndrome skos:exactMatch SCTID:17300000 semapv:UnspecifiedMatching MONDO:0005663 Barre-Lieou syndrome skos:exactMatch UMLS:C0376378 semapv:UnspecifiedMatching MONDO:0005663 Barre-Lieou syndrome skos:exactMatch mesh:D055010 semapv:UnspecifiedMatching MONDO:0005664 bartonellosis skos:exactMatch DOID:11102 bartonellosis semapv:UnspecifiedMatching MONDO:0005664 bartonellosis skos:exactMatch EFO:0007166 semapv:UnspecifiedMatching MONDO:0005664 bartonellosis skos:exactMatch ICD10CM:A44 Bartonellosis semapv:UnspecifiedMatching MONDO:0005664 bartonellosis skos:exactMatch ICD10WHO:A44 Bartonellosis semapv:UnspecifiedMatching MONDO:0005664 bartonellosis skos:exactMatch MEDGEN:504 semapv:UnspecifiedMatching MONDO:0005664 bartonellosis skos:exactMatch NCIT:C84586 Bartonella Infection semapv:UnspecifiedMatching MONDO:0005664 bartonellosis skos:exactMatch SCTID:266123003 semapv:UnspecifiedMatching MONDO:0005664 bartonellosis skos:exactMatch UMLS:C0004771 semapv:UnspecifiedMatching MONDO:0005664 bartonellosis skos:exactMatch icd11.foundation:1938462328 Bartonellosis semapv:UnspecifiedMatching MONDO:0005664 bartonellosis skos:exactMatch mesh:D001474 semapv:UnspecifiedMatching MONDO:0005665 Bell's palsy skos:exactMatch DOID:12506 Bell's palsy semapv:UnspecifiedMatching MONDO:0005665 Bell's palsy skos:exactMatch EFO:0007167 semapv:UnspecifiedMatching MONDO:0005665 Bell's palsy skos:exactMatch ICD10CM:G51.0 Bell's palsy semapv:UnspecifiedMatching MONDO:0005665 Bell's palsy skos:exactMatch MEDGEN:87660 semapv:UnspecifiedMatching MONDO:0005665 Bell's palsy skos:exactMatch NCIT:C26769 Facial Nerve Paralysis semapv:UnspecifiedMatching MONDO:0005665 Bell's palsy skos:exactMatch SCTID:193093009 semapv:UnspecifiedMatching MONDO:0005665 Bell's palsy skos:exactMatch UMLS:C0376175 semapv:UnspecifiedMatching MONDO:0005665 Bell's palsy skos:exactMatch mesh:D020330 semapv:UnspecifiedMatching MONDO:0005667 biliary dyskinesia skos:exactMatch DOID:4140 biliary dyskinesia semapv:UnspecifiedMatching MONDO:0005667 biliary dyskinesia skos:exactMatch EFO:0007169 semapv:UnspecifiedMatching MONDO:0005667 biliary dyskinesia skos:exactMatch MEDGEN:2627 semapv:UnspecifiedMatching MONDO:0005667 biliary dyskinesia skos:exactMatch SCTID:197432008 semapv:UnspecifiedMatching MONDO:0005667 biliary dyskinesia skos:exactMatch UMLS:C0005416 semapv:UnspecifiedMatching MONDO:0005667 biliary dyskinesia skos:exactMatch mesh:D001657 semapv:UnspecifiedMatching MONDO:0005668 bird fancier's lung skos:exactMatch DOID:13891 bird fancier's lung semapv:UnspecifiedMatching MONDO:0005668 bird fancier's lung skos:exactMatch ICD10CM:J67.2 Bird fancier's lung semapv:UnspecifiedMatching MONDO:0005668 bird fancier's lung skos:exactMatch MEDGEN:586 semapv:UnspecifiedMatching MONDO:0005668 bird fancier's lung skos:exactMatch NCIT:C34425 Bird Fancier's Lung semapv:UnspecifiedMatching MONDO:0005668 bird fancier's lung skos:exactMatch SCTID:69339004 semapv:UnspecifiedMatching MONDO:0005668 bird fancier's lung skos:exactMatch UMLS:C0005592 semapv:UnspecifiedMatching MONDO:0005668 bird fancier's lung skos:exactMatch icd11.foundation:912113736 Bird fancier lung semapv:UnspecifiedMatching MONDO:0005668 bird fancier's lung skos:exactMatch mesh:D001716 semapv:UnspecifiedMatching MONDO:0005669 black piedra skos:exactMatch DOID:12711 black piedra semapv:UnspecifiedMatching MONDO:0005669 black piedra skos:exactMatch ICD10CM:B36.3 Black piedra semapv:UnspecifiedMatching MONDO:0005669 black piedra skos:exactMatch MEDGEN:452132 semapv:UnspecifiedMatching MONDO:0005669 black piedra skos:exactMatch SCTID:33666009 semapv:UnspecifiedMatching MONDO:0005669 black piedra skos:exactMatch UMLS:C0153249 semapv:UnspecifiedMatching MONDO:0005669 black piedra skos:exactMatch icd11.foundation:1990974193 Black piedra semapv:UnspecifiedMatching MONDO:0005670 blackwater fever skos:exactMatch DOID:14068 blackwater fever semapv:UnspecifiedMatching MONDO:0005670 blackwater fever skos:exactMatch EFO:0007172 semapv:UnspecifiedMatching MONDO:0005670 blackwater fever skos:exactMatch MEDGEN:2277 semapv:UnspecifiedMatching MONDO:0005670 blackwater fever skos:exactMatch NCIT:C34426 Blackwater Fever semapv:UnspecifiedMatching MONDO:0005670 blackwater fever skos:exactMatch SCTID:56625005 semapv:UnspecifiedMatching MONDO:0005670 blackwater fever skos:exactMatch UMLS:C0005681 semapv:UnspecifiedMatching MONDO:0005670 blackwater fever skos:exactMatch mesh:D001742 semapv:UnspecifiedMatching MONDO:0005671 Blastocystis infectious disease skos:exactMatch EFO:0007173 semapv:UnspecifiedMatching MONDO:0005671 Blastocystis infectious disease skos:exactMatch SCTID:721809007 semapv:UnspecifiedMatching MONDO:0005671 Blastocystis infectious disease skos:exactMatch mesh:D016776 semapv:UnspecifiedMatching MONDO:0005672 blastomycosis skos:exactMatch DOID:12663 blastomycosis semapv:UnspecifiedMatching MONDO:0005672 blastomycosis skos:exactMatch EFO:0007174 semapv:UnspecifiedMatching MONDO:0005672 blastomycosis skos:exactMatch ICD10CM:B40 Blastomycosis semapv:UnspecifiedMatching MONDO:0005672 blastomycosis skos:exactMatch ICD10WHO:B40 Blastomycosis semapv:UnspecifiedMatching MONDO:0005672 blastomycosis skos:exactMatch MEDGEN:597 semapv:UnspecifiedMatching MONDO:0005672 blastomycosis skos:exactMatch NCIT:C34428 Blastomycosis semapv:UnspecifiedMatching MONDO:0005672 blastomycosis skos:exactMatch NCIT:C34429 North American Blastomycosis semapv:UnspecifiedMatching MONDO:0005672 blastomycosis skos:exactMatch SCTID:191950004 semapv:UnspecifiedMatching MONDO:0005672 blastomycosis skos:exactMatch UMLS:C0005716 semapv:UnspecifiedMatching MONDO:0005672 blastomycosis skos:exactMatch icd11.foundation:1968108845 Blastomycosis semapv:UnspecifiedMatching MONDO:0005672 blastomycosis skos:exactMatch mesh:D001759 semapv:UnspecifiedMatching MONDO:0005673 blind loop syndrome skos:exactMatch DOID:10606 blind loop syndrome semapv:UnspecifiedMatching MONDO:0005673 blind loop syndrome skos:exactMatch EFO:0007175 semapv:UnspecifiedMatching MONDO:0005673 blind loop syndrome skos:exactMatch MEDGEN:600 semapv:UnspecifiedMatching MONDO:0005673 blind loop syndrome skos:exactMatch NCIT:C34431 Blind Loop Syndrome semapv:UnspecifiedMatching MONDO:0005673 blind loop syndrome skos:exactMatch SCTID:66379009 semapv:UnspecifiedMatching MONDO:0005673 blind loop syndrome skos:exactMatch UMLS:C0005750 semapv:UnspecifiedMatching MONDO:0005673 blind loop syndrome skos:exactMatch icd11.foundation:1719064637 Blind loop syndrome semapv:UnspecifiedMatching MONDO:0005673 blind loop syndrome skos:exactMatch mesh:D001765 semapv:UnspecifiedMatching MONDO:0005674 bone giant cell tumor skos:exactMatch DOID:4305 bone giant cell tumor semapv:UnspecifiedMatching MONDO:0005674 bone giant cell tumor skos:exactMatch EFO:0007176 semapv:UnspecifiedMatching MONDO:0005674 bone giant cell tumor skos:exactMatch MEDGEN:64624 semapv:UnspecifiedMatching MONDO:0005674 bone giant cell tumor skos:exactMatch NCIT:C121932 Giant Cell Tumor of Bone semapv:UnspecifiedMatching MONDO:0005674 bone giant cell tumor skos:exactMatch Orphanet:363976 Giant cell tumor of bone semapv:UnspecifiedMatching MONDO:0005674 bone giant cell tumor skos:exactMatch SCTID:697970009 semapv:UnspecifiedMatching MONDO:0005674 bone giant cell tumor skos:exactMatch UMLS:C0206638 semapv:UnspecifiedMatching MONDO:0005674 bone giant cell tumor skos:exactMatch mesh:D018212 semapv:UnspecifiedMatching MONDO:0005675 border disease skos:exactMatch EFO:0007177 semapv:UnspecifiedMatching MONDO:0005675 border disease skos:exactMatch mesh:D001882 semapv:UnspecifiedMatching MONDO:0005676 borna disease skos:exactMatch EFO:0007178 semapv:UnspecifiedMatching MONDO:0005677 Rickettsia conorii infectious disease skos:exactMatch EFO:0007179 semapv:UnspecifiedMatching MONDO:0005678 bovine respiratory disease complex skos:exactMatch EFO:0007180 semapv:UnspecifiedMatching MONDO:0005678 bovine respiratory disease complex skos:exactMatch mesh:D048090 semapv:UnspecifiedMatching MONDO:0005679 bovine virus diarrhea-mucosal disease skos:exactMatch mesh:D001912 semapv:UnspecifiedMatching MONDO:0005679 bovine virus diarrhea-mucosal disease skos:exactMatch mesh:D030243 semapv:UnspecifiedMatching MONDO:0005680 Brill-Zinsser disease skos:exactMatch DOID:11254 Brill-Zinsser disease semapv:UnspecifiedMatching MONDO:0005680 Brill-Zinsser disease skos:exactMatch EFO:0007182 semapv:UnspecifiedMatching MONDO:0005680 Brill-Zinsser disease skos:exactMatch ICD10CM:A75.1 Recrudescent typhus [Brill's disease] semapv:UnspecifiedMatching MONDO:0005680 Brill-Zinsser disease skos:exactMatch MEDGEN:2730 semapv:UnspecifiedMatching MONDO:0005680 Brill-Zinsser disease skos:exactMatch Orphanet:99990 Brill-Zinsser disease semapv:UnspecifiedMatching MONDO:0005680 Brill-Zinsser disease skos:exactMatch SCTID:47761007 semapv:UnspecifiedMatching MONDO:0005680 Brill-Zinsser disease skos:exactMatch UMLS:C0006181 semapv:UnspecifiedMatching MONDO:0005680 Brill-Zinsser disease skos:exactMatch icd11.foundation:1961511435 Recrudescent typhus semapv:UnspecifiedMatching MONDO:0005682 bronchopneumonia skos:exactMatch DOID:12375 bronchopneumonia semapv:UnspecifiedMatching MONDO:0005682 bronchopneumonia skos:exactMatch EFO:0007184 semapv:UnspecifiedMatching MONDO:0005682 bronchopneumonia skos:exactMatch MEDGEN:2737 semapv:UnspecifiedMatching MONDO:0005682 bronchopneumonia skos:exactMatch NCIT:C26710 Bronchopneumonia semapv:UnspecifiedMatching MONDO:0005682 bronchopneumonia skos:exactMatch SCTID:396285007 semapv:UnspecifiedMatching MONDO:0005682 bronchopneumonia skos:exactMatch UMLS:C0006285 semapv:UnspecifiedMatching MONDO:0005682 bronchopneumonia skos:exactMatch icd11.foundation:57624587 Bronchopneumonia semapv:UnspecifiedMatching MONDO:0005682 bronchopneumonia skos:exactMatch mesh:D001996 semapv:UnspecifiedMatching MONDO:0005683 brucellosis skos:exactMatch DOID:11077 brucellosis semapv:UnspecifiedMatching MONDO:0005683 brucellosis skos:exactMatch EFO:0007185 semapv:UnspecifiedMatching MONDO:0005683 brucellosis skos:exactMatch ICD10CM:A23 Brucellosis semapv:UnspecifiedMatching MONDO:0005683 brucellosis skos:exactMatch ICD10WHO:A23 Brucellosis semapv:UnspecifiedMatching MONDO:0005683 brucellosis skos:exactMatch MEDGEN:674 semapv:UnspecifiedMatching MONDO:0005683 brucellosis skos:exactMatch NCIT:C84602 Brucellosis semapv:UnspecifiedMatching MONDO:0005683 brucellosis skos:exactMatch Orphanet:1304 Brucellosis semapv:UnspecifiedMatching MONDO:0005683 brucellosis skos:exactMatch SCTID:75702008 semapv:UnspecifiedMatching MONDO:0005683 brucellosis skos:exactMatch UMLS:C0006309 semapv:UnspecifiedMatching MONDO:0005683 brucellosis skos:exactMatch icd11.foundation:730510331 Brucellosis semapv:UnspecifiedMatching MONDO:0005683 brucellosis skos:exactMatch mesh:D002006 semapv:UnspecifiedMatching MONDO:0005684 bulbar polio skos:exactMatch DOID:9786 bulbar polio semapv:UnspecifiedMatching MONDO:0005684 bulbar polio skos:exactMatch MEDGEN:45982 semapv:UnspecifiedMatching MONDO:0005684 bulbar polio skos:exactMatch UMLS:C0032372 semapv:UnspecifiedMatching MONDO:0005684 bulbar polio skos:exactMatch mesh:D011052 semapv:UnspecifiedMatching MONDO:0005687 Caliciviridae infectious disease skos:exactMatch EFO:0007189 semapv:UnspecifiedMatching MONDO:0005687 Caliciviridae infectious disease skos:exactMatch mesh:D017250 semapv:UnspecifiedMatching MONDO:0005688 campylobacteriosis skos:exactMatch DOID:13622 campylobacteriosis semapv:UnspecifiedMatching MONDO:0005688 campylobacteriosis skos:exactMatch EFO:0007190 semapv:UnspecifiedMatching MONDO:0005688 campylobacteriosis skos:exactMatch MEDGEN:14296 semapv:UnspecifiedMatching MONDO:0005688 campylobacteriosis skos:exactMatch SCTID:86500004 semapv:UnspecifiedMatching MONDO:0005688 campylobacteriosis skos:exactMatch UMLS:C0006818 semapv:UnspecifiedMatching MONDO:0005688 campylobacteriosis skos:exactMatch icd11.foundation:1012026026 Campylobacteriosis semapv:UnspecifiedMatching MONDO:0005688 campylobacteriosis skos:exactMatch mesh:D002169 semapv:UnspecifiedMatching MONDO:0005689 cannabis dependence skos:exactMatch DOID:1849 cannabis dependence semapv:UnspecifiedMatching MONDO:0005689 cannabis dependence skos:exactMatch DOID:9505 cannabis abuse semapv:UnspecifiedMatching MONDO:0005689 cannabis dependence skos:exactMatch EFO:0007191 semapv:UnspecifiedMatching MONDO:0005689 cannabis dependence skos:exactMatch ICD10CM:F12.2 Cannabis dependence semapv:UnspecifiedMatching MONDO:0005689 cannabis dependence skos:exactMatch MEDGEN:14303 semapv:UnspecifiedMatching MONDO:0005689 cannabis dependence skos:exactMatch NCIT:C34445 Cannabis Dependence semapv:UnspecifiedMatching MONDO:0005689 cannabis dependence skos:exactMatch SCTID:37344009 semapv:UnspecifiedMatching MONDO:0005689 cannabis dependence skos:exactMatch SCTID:85005007 semapv:UnspecifiedMatching MONDO:0005689 cannabis dependence skos:exactMatch UMLS:C0006870 semapv:UnspecifiedMatching MONDO:0005689 cannabis dependence skos:exactMatch icd11.foundation:1129015467 Cannabis dependence semapv:UnspecifiedMatching MONDO:0005689 cannabis dependence skos:exactMatch mesh:D002189 semapv:UnspecifiedMatching MONDO:0005690 Caplan syndrome skos:exactMatch DOID:10326 Caplan's syndrome semapv:UnspecifiedMatching MONDO:0005690 Caplan syndrome skos:exactMatch EFO:0007192 semapv:UnspecifiedMatching MONDO:0005690 Caplan syndrome skos:exactMatch MEDGEN:743 semapv:UnspecifiedMatching MONDO:0005690 Caplan syndrome skos:exactMatch SCTID:398640008 semapv:UnspecifiedMatching MONDO:0005690 Caplan syndrome skos:exactMatch UMLS:C0006915 semapv:UnspecifiedMatching MONDO:0005690 Caplan syndrome skos:exactMatch mesh:D002205 semapv:UnspecifiedMatching MONDO:0005691 cardiovirus infectious disease skos:exactMatch EFO:0007194 semapv:UnspecifiedMatching MONDO:0005691 cardiovirus infectious disease skos:exactMatch MEDGEN:60193 semapv:UnspecifiedMatching MONDO:0005691 cardiovirus infectious disease skos:exactMatch UMLS:C0206617 semapv:UnspecifiedMatching MONDO:0005691 cardiovirus infectious disease skos:exactMatch mesh:D018188 semapv:UnspecifiedMatching MONDO:0005692 cat-scratch disease skos:exactMatch DOID:11258 cat-scratch disease semapv:UnspecifiedMatching MONDO:0005692 cat-scratch disease skos:exactMatch EFO:0007195 semapv:UnspecifiedMatching MONDO:0005692 cat-scratch disease skos:exactMatch ICD10CM:A28.1 Cat-scratch disease semapv:UnspecifiedMatching MONDO:0005692 cat-scratch disease skos:exactMatch MEDGEN:2861 semapv:UnspecifiedMatching MONDO:0005692 cat-scratch disease skos:exactMatch NCIT:C84620 Cat-Scratch Disease semapv:UnspecifiedMatching MONDO:0005692 cat-scratch disease skos:exactMatch Orphanet:50839 Cat-scratch disease semapv:UnspecifiedMatching MONDO:0005692 cat-scratch disease skos:exactMatch SCTID:79974007 semapv:UnspecifiedMatching MONDO:0005692 cat-scratch disease skos:exactMatch UMLS:C0007361 semapv:UnspecifiedMatching MONDO:0005692 cat-scratch disease skos:exactMatch icd11.foundation:2003001085 Cat-scratch disease semapv:UnspecifiedMatching MONDO:0005692 cat-scratch disease skos:exactMatch mesh:D002372 semapv:UnspecifiedMatching MONDO:0005693 cauda equina syndrome skos:exactMatch DOID:11577 Cauda equina syndrome semapv:UnspecifiedMatching MONDO:0005693 cauda equina syndrome skos:exactMatch EFO:0007196 semapv:UnspecifiedMatching MONDO:0005693 cauda equina syndrome skos:exactMatch ICD10CM:G83.4 Cauda equina syndrome semapv:UnspecifiedMatching MONDO:0005693 cauda equina syndrome skos:exactMatch MEDGEN:98229 semapv:UnspecifiedMatching MONDO:0005693 cauda equina syndrome skos:exactMatch NCIT:C35436 Cauda Equina Syndrome semapv:UnspecifiedMatching MONDO:0005693 cauda equina syndrome skos:exactMatch SCTID:192970008 semapv:UnspecifiedMatching MONDO:0005693 cauda equina syndrome skos:exactMatch UMLS:C0392548 semapv:UnspecifiedMatching MONDO:0005693 cauda equina syndrome skos:exactMatch icd11.foundation:1490265028 Cauda equina syndrome semapv:UnspecifiedMatching MONDO:0005693 cauda equina syndrome skos:exactMatch mesh:D000077684 semapv:UnspecifiedMatching MONDO:0005694 cecal neoplasm skos:exactMatch DOID:1517 cecal benign neoplasm semapv:UnspecifiedMatching MONDO:0005694 cecal neoplasm skos:exactMatch EFO:0009255 semapv:UnspecifiedMatching MONDO:0005694 cecal neoplasm skos:exactMatch MEDGEN:2922 semapv:UnspecifiedMatching MONDO:0005694 cecal neoplasm skos:exactMatch NCIT:C4433 Cecum Neoplasm semapv:UnspecifiedMatching MONDO:0005694 cecal neoplasm skos:exactMatch SCTID:126839008 semapv:UnspecifiedMatching MONDO:0005694 cecal neoplasm skos:exactMatch UMLS:C0007528 semapv:UnspecifiedMatching MONDO:0005694 cecal neoplasm skos:exactMatch mesh:D002430 semapv:UnspecifiedMatching MONDO:0005695 central nervous system AIDS arteritis skos:exactMatch MEDGEN:156263 semapv:UnspecifiedMatching MONDO:0005695 central nervous system AIDS arteritis skos:exactMatch UMLS:C0752330 semapv:UnspecifiedMatching MONDO:0005695 central nervous system AIDS arteritis skos:exactMatch mesh:D020943 semapv:UnspecifiedMatching MONDO:0005696 central nervous system tuberculosis skos:exactMatch DOID:1638 central nervous system tuberculosis semapv:UnspecifiedMatching MONDO:0005696 central nervous system tuberculosis skos:exactMatch EFO:0007199 semapv:UnspecifiedMatching MONDO:0005696 central nervous system tuberculosis skos:exactMatch MEDGEN:82907 semapv:UnspecifiedMatching MONDO:0005696 central nervous system tuberculosis skos:exactMatch Orphanet:641396 Central nervous system tuberculosis semapv:UnspecifiedMatching MONDO:0005696 central nervous system tuberculosis skos:exactMatch SCTID:186217006 semapv:UnspecifiedMatching MONDO:0005696 central nervous system tuberculosis skos:exactMatch UMLS:C0275904 semapv:UnspecifiedMatching MONDO:0005696 central nervous system tuberculosis skos:exactMatch icd11.foundation:729372485 Tuberculosis of the nervous system semapv:UnspecifiedMatching MONDO:0005697 cerebral toxoplasmosis skos:exactMatch EFO:0007200 semapv:UnspecifiedMatching MONDO:0005697 cerebral toxoplasmosis skos:exactMatch MEDGEN:38846 semapv:UnspecifiedMatching MONDO:0005697 cerebral toxoplasmosis skos:exactMatch SCTID:192701001 semapv:UnspecifiedMatching MONDO:0005697 cerebral toxoplasmosis skos:exactMatch UMLS:C0085315 semapv:UnspecifiedMatching MONDO:0005697 cerebral toxoplasmosis skos:exactMatch mesh:D016781 semapv:UnspecifiedMatching MONDO:0005698 cervical incompetence skos:exactMatch DOID:9681 cervical incompetence semapv:UnspecifiedMatching MONDO:0005698 cervical incompetence skos:exactMatch EFO:0007202 semapv:UnspecifiedMatching MONDO:0005698 cervical incompetence skos:exactMatch MEDGEN:2972 semapv:UnspecifiedMatching MONDO:0005698 cervical incompetence skos:exactMatch SCTID:17382005 semapv:UnspecifiedMatching MONDO:0005698 cervical incompetence skos:exactMatch UMLS:C0007871 semapv:UnspecifiedMatching MONDO:0005698 cervical incompetence skos:exactMatch mesh:D002581 semapv:UnspecifiedMatching MONDO:0005699 cervicofacial actinomycosis skos:exactMatch ICD10CM:A42.2 Cervicofacial actinomycosis semapv:UnspecifiedMatching MONDO:0005699 cervicofacial actinomycosis skos:exactMatch MEDGEN:1308 semapv:UnspecifiedMatching MONDO:0005699 cervicofacial actinomycosis skos:exactMatch NCIT:C34351 Cervicofacial Actinomycotic Infection semapv:UnspecifiedMatching MONDO:0005699 cervicofacial actinomycosis skos:exactMatch SCTID:23014006 semapv:UnspecifiedMatching MONDO:0005699 cervicofacial actinomycosis skos:exactMatch UMLS:C0001264 semapv:UnspecifiedMatching MONDO:0005699 cervicofacial actinomycosis skos:exactMatch icd11.foundation:185601767 Cervicofacial actinomycosis semapv:UnspecifiedMatching MONDO:0005699 cervicofacial actinomycosis skos:exactMatch mesh:D000197 semapv:UnspecifiedMatching MONDO:0005700 chickenpox skos:exactMatch DOID:8659 chickenpox semapv:UnspecifiedMatching MONDO:0005700 chickenpox skos:exactMatch EFO:0007204 semapv:UnspecifiedMatching MONDO:0005700 chickenpox skos:exactMatch ICD10CM:B01 Varicella [chickenpox] semapv:UnspecifiedMatching MONDO:0005700 chickenpox skos:exactMatch MEDGEN:2995 semapv:UnspecifiedMatching MONDO:0005700 chickenpox skos:exactMatch NCIT:C97132 Chicken Pox semapv:UnspecifiedMatching MONDO:0005700 chickenpox skos:exactMatch SCTID:38907003 semapv:UnspecifiedMatching MONDO:0005700 chickenpox skos:exactMatch UMLS:C0008049 semapv:UnspecifiedMatching MONDO:0005700 chickenpox skos:exactMatch mesh:D002644 semapv:UnspecifiedMatching MONDO:0005701 chlamydia trachomatis infectious disease skos:exactMatch DOID:11263 chlamydia semapv:UnspecifiedMatching MONDO:0005701 chlamydia trachomatis infectious disease skos:exactMatch EFO:0007205 semapv:UnspecifiedMatching MONDO:0005701 chlamydia trachomatis infectious disease skos:exactMatch NCIT:C34463 Chlamydial Infection semapv:UnspecifiedMatching MONDO:0005701 chlamydia trachomatis infectious disease skos:exactMatch SCTID:105629000 semapv:UnspecifiedMatching MONDO:0005704 Ciliophora infectious disease skos:exactMatch MEDGEN:88379 semapv:UnspecifiedMatching MONDO:0005704 Ciliophora infectious disease skos:exactMatch UMLS:C0085308 semapv:UnspecifiedMatching MONDO:0005704 Ciliophora infectious disease skos:exactMatch mesh:D016770 semapv:UnspecifiedMatching MONDO:0005705 clonorchiasis skos:exactMatch DOID:13767 clonorchiasis semapv:UnspecifiedMatching MONDO:0005705 clonorchiasis skos:exactMatch EFO:0007210 semapv:UnspecifiedMatching MONDO:0005705 clonorchiasis skos:exactMatch ICD10CM:B66.1 Clonorchiasis semapv:UnspecifiedMatching MONDO:0005705 clonorchiasis skos:exactMatch MEDGEN:3119 semapv:UnspecifiedMatching MONDO:0005705 clonorchiasis skos:exactMatch Orphanet:658917 Clonorchiasis semapv:UnspecifiedMatching MONDO:0005705 clonorchiasis skos:exactMatch SCTID:11938002 semapv:UnspecifiedMatching MONDO:0005705 clonorchiasis skos:exactMatch UMLS:C0009021 semapv:UnspecifiedMatching MONDO:0005705 clonorchiasis skos:exactMatch icd11.foundation:918986134 Clonorchiasis semapv:UnspecifiedMatching MONDO:0005705 clonorchiasis skos:exactMatch mesh:D003003 semapv:UnspecifiedMatching MONDO:0005706 coccidioidomycosis skos:exactMatch DOID:13450 coccidioidomycosis semapv:UnspecifiedMatching MONDO:0005706 coccidioidomycosis skos:exactMatch EFO:0007211 semapv:UnspecifiedMatching MONDO:0005706 coccidioidomycosis skos:exactMatch ICD10CM:B38 Coccidioidomycosis semapv:UnspecifiedMatching MONDO:0005706 coccidioidomycosis skos:exactMatch ICD10WHO:B38 Coccidioidomycosis semapv:UnspecifiedMatching MONDO:0005706 coccidioidomycosis skos:exactMatch MEDGEN:3137 semapv:UnspecifiedMatching MONDO:0005706 coccidioidomycosis skos:exactMatch NCIT:C84642 Coccidioidomycosis semapv:UnspecifiedMatching MONDO:0005706 coccidioidomycosis skos:exactMatch Orphanet:228123 Coccidioidomycosis semapv:UnspecifiedMatching MONDO:0005706 coccidioidomycosis skos:exactMatch SCTID:23247008 semapv:UnspecifiedMatching MONDO:0005706 coccidioidomycosis skos:exactMatch UMLS:C0009186 semapv:UnspecifiedMatching MONDO:0005706 coccidioidomycosis skos:exactMatch icd11.foundation:132287989 Coccidioidomycosis semapv:UnspecifiedMatching MONDO:0005706 coccidioidomycosis skos:exactMatch mesh:D003047 semapv:UnspecifiedMatching MONDO:0005707 coccidiosis skos:exactMatch DOID:2113 coccidiosis semapv:UnspecifiedMatching MONDO:0005707 coccidiosis skos:exactMatch EFO:0007212 semapv:UnspecifiedMatching MONDO:0005707 coccidiosis skos:exactMatch MEDGEN:3138 semapv:UnspecifiedMatching MONDO:0005707 coccidiosis skos:exactMatch NCIT:C34493 Coccidiosis semapv:UnspecifiedMatching MONDO:0005707 coccidiosis skos:exactMatch SCTID:62005008 semapv:UnspecifiedMatching MONDO:0005707 coccidiosis skos:exactMatch UMLS:C0009187 semapv:UnspecifiedMatching MONDO:0005707 coccidiosis skos:exactMatch mesh:D003048 semapv:UnspecifiedMatching MONDO:0005708 Colorado tick fever skos:exactMatch DOID:4885 Colorado tick fever semapv:UnspecifiedMatching MONDO:0005708 Colorado tick fever skos:exactMatch ICD10CM:A93.2 Colorado tick fever semapv:UnspecifiedMatching MONDO:0005708 Colorado tick fever skos:exactMatch MEDGEN:40398 semapv:UnspecifiedMatching MONDO:0005708 Colorado tick fever skos:exactMatch Orphanet:83595 Colorado tick fever semapv:UnspecifiedMatching MONDO:0005708 Colorado tick fever skos:exactMatch SCTID:6452009 semapv:UnspecifiedMatching MONDO:0005708 Colorado tick fever skos:exactMatch UMLS:C0009400 semapv:UnspecifiedMatching MONDO:0005708 Colorado tick fever skos:exactMatch icd11.foundation:951357413 Colorado tick fever semapv:UnspecifiedMatching MONDO:0005708 Colorado tick fever skos:exactMatch mesh:D003121 semapv:UnspecifiedMatching MONDO:0005709 common cold skos:exactMatch DOID:10459 common cold semapv:UnspecifiedMatching MONDO:0005709 common cold skos:exactMatch EFO:0007214 semapv:UnspecifiedMatching MONDO:0005709 common cold skos:exactMatch ICD10CM:J00 Acute nasopharyngitis [common cold] semapv:UnspecifiedMatching MONDO:0005709 common cold skos:exactMatch MEDGEN:3179 semapv:UnspecifiedMatching MONDO:0005709 common cold skos:exactMatch NCIT:C34500 Acute Nasopharyngitis semapv:UnspecifiedMatching MONDO:0005709 common cold skos:exactMatch SCTID:82272006 semapv:UnspecifiedMatching MONDO:0005709 common cold skos:exactMatch UMLS:C0009443 semapv:UnspecifiedMatching MONDO:0005709 common cold skos:exactMatch mesh:D003139 semapv:UnspecifiedMatching MONDO:0005710 composite lymphoma skos:exactMatch DOID:5820 composite lymphoma semapv:UnspecifiedMatching MONDO:0005710 composite lymphoma skos:exactMatch MEDGEN:107468 semapv:UnspecifiedMatching MONDO:0005710 composite lymphoma skos:exactMatch NCIT:C38661 Composite Lymphoma semapv:UnspecifiedMatching MONDO:0005710 composite lymphoma skos:exactMatch Orphanet:168966 Composite lymphoma semapv:UnspecifiedMatching MONDO:0005710 composite lymphoma skos:exactMatch UMLS:C0545080 semapv:UnspecifiedMatching MONDO:0005710 composite lymphoma skos:exactMatch mesh:D058617 semapv:UnspecifiedMatching MONDO:0005711 congenital diaphragmatic hernia skos:exactMatch DOID:3827 congenital diaphragmatic hernia semapv:UnspecifiedMatching MONDO:0005711 congenital diaphragmatic hernia skos:exactMatch EFO:0007216 semapv:UnspecifiedMatching MONDO:0005711 congenital diaphragmatic hernia skos:exactMatch ICD10CM:Q79.0 Congenital diaphragmatic hernia semapv:UnspecifiedMatching MONDO:0005711 congenital diaphragmatic hernia skos:exactMatch MEDGEN:68625 semapv:UnspecifiedMatching MONDO:0005711 congenital diaphragmatic hernia skos:exactMatch NCIT:C98893 Congenital Diaphragmatic Hernia semapv:UnspecifiedMatching MONDO:0005711 congenital diaphragmatic hernia skos:exactMatch OMIMPS:142340 Diaphragmatic hernia semapv:UnspecifiedMatching MONDO:0005711 congenital diaphragmatic hernia skos:exactMatch Orphanet:2140 Congenital diaphragmatic hernia semapv:UnspecifiedMatching MONDO:0005711 congenital diaphragmatic hernia skos:exactMatch UMLS:C0235833 semapv:UnspecifiedMatching MONDO:0005711 congenital diaphragmatic hernia skos:exactMatch icd11.foundation:1414428936 Congenital diaphragmatic hernia semapv:UnspecifiedMatching MONDO:0005711 congenital diaphragmatic hernia skos:exactMatch mesh:D065630 semapv:UnspecifiedMatching MONDO:0005712 congenital nystagmus skos:exactMatch DOID:9649 congenital nystagmus semapv:UnspecifiedMatching MONDO:0005712 congenital nystagmus skos:exactMatch EFO:0007217 semapv:UnspecifiedMatching MONDO:0005712 congenital nystagmus skos:exactMatch ICD10CM:H55.01 Congenital nystagmus semapv:UnspecifiedMatching MONDO:0005712 congenital nystagmus skos:exactMatch MEDGEN:195995 semapv:UnspecifiedMatching MONDO:0005712 congenital nystagmus skos:exactMatch OMIMPS:310700 Nystagmus, congenital semapv:UnspecifiedMatching MONDO:0005712 congenital nystagmus skos:exactMatch SCTID:64635004 semapv:UnspecifiedMatching MONDO:0005712 congenital nystagmus skos:exactMatch UMLS:C0700501 semapv:UnspecifiedMatching MONDO:0005712 congenital nystagmus skos:exactMatch icd11.foundation:1626567380 Congenital nystagmus semapv:UnspecifiedMatching MONDO:0005712 congenital nystagmus skos:exactMatch mesh:D020417 semapv:UnspecifiedMatching MONDO:0005714 congenital syphilis skos:exactMatch DOID:9856 congenital syphilis semapv:UnspecifiedMatching MONDO:0005714 congenital syphilis skos:exactMatch EFO:0007219 semapv:UnspecifiedMatching MONDO:0005714 congenital syphilis skos:exactMatch ICD10CM:A50 Congenital syphilis semapv:UnspecifiedMatching MONDO:0005714 congenital syphilis skos:exactMatch ICD10WHO:A50 Congenital syphilis semapv:UnspecifiedMatching MONDO:0005714 congenital syphilis skos:exactMatch MEDGEN:52622 semapv:UnspecifiedMatching MONDO:0005714 congenital syphilis skos:exactMatch NCIT:C84649 Congenital Syphilis semapv:UnspecifiedMatching MONDO:0005714 congenital syphilis skos:exactMatch Orphanet:499009 Congenital syphilis semapv:UnspecifiedMatching MONDO:0005714 congenital syphilis skos:exactMatch SCTID:35742006 semapv:UnspecifiedMatching MONDO:0005714 congenital syphilis skos:exactMatch UMLS:C0039131 semapv:UnspecifiedMatching MONDO:0005714 congenital syphilis skos:exactMatch icd11.foundation:587996426 Congenital syphilis semapv:UnspecifiedMatching MONDO:0005714 congenital syphilis skos:exactMatch mesh:D013590 semapv:UnspecifiedMatching MONDO:0005715 congenital toxoplasmosis skos:exactMatch DOID:13336 congenital toxoplasmosis semapv:UnspecifiedMatching MONDO:0005715 congenital toxoplasmosis skos:exactMatch EFO:0007220 semapv:UnspecifiedMatching MONDO:0005715 congenital toxoplasmosis skos:exactMatch ICD10CM:P37.1 Congenital toxoplasmosis semapv:UnspecifiedMatching MONDO:0005715 congenital toxoplasmosis skos:exactMatch MEDGEN:52799 semapv:UnspecifiedMatching MONDO:0005715 congenital toxoplasmosis skos:exactMatch NCIT:C50503 Congenital Toxoplasmosis semapv:UnspecifiedMatching MONDO:0005715 congenital toxoplasmosis skos:exactMatch Orphanet:858 Congenital toxoplasmosis semapv:UnspecifiedMatching MONDO:0005715 congenital toxoplasmosis skos:exactMatch SCTID:73893000 semapv:UnspecifiedMatching MONDO:0005715 congenital toxoplasmosis skos:exactMatch UMLS:C0040560 semapv:UnspecifiedMatching MONDO:0005715 congenital toxoplasmosis skos:exactMatch icd11.foundation:1194018225 Congenital toxoplasmosis semapv:UnspecifiedMatching MONDO:0005715 congenital toxoplasmosis skos:exactMatch mesh:D014125 semapv:UnspecifiedMatching MONDO:0005716 contagious pleuropneumonia skos:exactMatch EFO:0007221 semapv:UnspecifiedMatching MONDO:0005716 contagious pleuropneumonia skos:exactMatch MEDGEN:19357 semapv:UnspecifiedMatching MONDO:0005716 contagious pleuropneumonia skos:exactMatch UMLS:C0032243 semapv:UnspecifiedMatching MONDO:0005716 contagious pleuropneumonia skos:exactMatch mesh:D011002 semapv:UnspecifiedMatching MONDO:0005717 contagious pustular dermatitis skos:exactMatch DOID:8771 contagious pustular dermatitis semapv:UnspecifiedMatching MONDO:0005717 contagious pustular dermatitis skos:exactMatch EFO:0007222 semapv:UnspecifiedMatching MONDO:0005717 contagious pustular dermatitis skos:exactMatch ICD10CM:B08.02 Orf virus disease semapv:UnspecifiedMatching MONDO:0005717 contagious pustular dermatitis skos:exactMatch MEDGEN:41702 semapv:UnspecifiedMatching MONDO:0005717 contagious pustular dermatitis skos:exactMatch SCTID:74050005 semapv:UnspecifiedMatching MONDO:0005717 contagious pustular dermatitis skos:exactMatch UMLS:C0013570 semapv:UnspecifiedMatching MONDO:0005717 contagious pustular dermatitis skos:exactMatch mesh:D004474 semapv:UnspecifiedMatching MONDO:0005718 Coronaviridae infectious disease skos:exactMatch EFO:0007223 semapv:UnspecifiedMatching MONDO:0005718 Coronaviridae infectious disease skos:exactMatch MEDGEN:40491 semapv:UnspecifiedMatching MONDO:0005718 Coronaviridae infectious disease skos:exactMatch UMLS:C0010078 semapv:UnspecifiedMatching MONDO:0005719 Coronavinae infectious disease skos:exactMatch EFO:0007224 semapv:UnspecifiedMatching MONDO:0005719 Coronavinae infectious disease skos:exactMatch mesh:D018352 semapv:UnspecifiedMatching MONDO:0005720 cowpox skos:exactMatch DOID:8956 cowpox semapv:UnspecifiedMatching MONDO:0005720 cowpox skos:exactMatch EFO:0007225 semapv:UnspecifiedMatching MONDO:0005720 cowpox skos:exactMatch ICD10CM:B08.010 Cowpox semapv:UnspecifiedMatching MONDO:0005720 cowpox skos:exactMatch MEDGEN:3261 semapv:UnspecifiedMatching MONDO:0005720 cowpox skos:exactMatch SCTID:70090004 semapv:UnspecifiedMatching MONDO:0005720 cowpox skos:exactMatch UMLS:C0010232 semapv:UnspecifiedMatching MONDO:0005720 cowpox skos:exactMatch icd11.foundation:1205745537 Cowpox semapv:UnspecifiedMatching MONDO:0005720 cowpox skos:exactMatch mesh:D015605 semapv:UnspecifiedMatching MONDO:0005721 coxsackievirus infectious disease skos:exactMatch EFO:0007226 semapv:UnspecifiedMatching MONDO:0005721 coxsackievirus infectious disease skos:exactMatch MEDGEN:1159 semapv:UnspecifiedMatching MONDO:0005721 coxsackievirus infectious disease skos:exactMatch UMLS:C0010246 semapv:UnspecifiedMatching MONDO:0005721 coxsackievirus infectious disease skos:exactMatch mesh:D003384 semapv:UnspecifiedMatching MONDO:0005722 croup skos:exactMatch DOID:9395 croup semapv:UnspecifiedMatching MONDO:0005722 croup skos:exactMatch EFO:0007227 semapv:UnspecifiedMatching MONDO:0005722 croup skos:exactMatch ICD10CM:J05.0 Acute obstructive laryngitis [croup] semapv:UnspecifiedMatching MONDO:0005722 croup skos:exactMatch MEDGEN:3668 semapv:UnspecifiedMatching MONDO:0005722 croup skos:exactMatch NCIT:C26735 Croup semapv:UnspecifiedMatching MONDO:0005722 croup skos:exactMatch SCTID:71186008 semapv:UnspecifiedMatching MONDO:0005722 croup skos:exactMatch UMLS:C0010380 semapv:UnspecifiedMatching MONDO:0005722 croup skos:exactMatch mesh:D003440 semapv:UnspecifiedMatching MONDO:0005723 Cryptococcal meningitis skos:exactMatch DOID:0080159 Cryptococcal meningitis semapv:UnspecifiedMatching MONDO:0005723 Cryptococcal meningitis skos:exactMatch EFO:0007228 semapv:UnspecifiedMatching MONDO:0005723 Cryptococcal meningitis skos:exactMatch MEDGEN:88410 semapv:UnspecifiedMatching MONDO:0005723 Cryptococcal meningitis skos:exactMatch NCIT:C174113 Cryptococcal Meningitis semapv:UnspecifiedMatching MONDO:0005723 Cryptococcal meningitis skos:exactMatch SCTID:14232007 semapv:UnspecifiedMatching MONDO:0005723 Cryptococcal meningitis skos:exactMatch UMLS:C0085436 semapv:UnspecifiedMatching MONDO:0005723 Cryptococcal meningitis skos:exactMatch mesh:D016919 semapv:UnspecifiedMatching MONDO:0005724 cryptococcosis skos:exactMatch DOID:12053 cryptococcosis semapv:UnspecifiedMatching MONDO:0005724 cryptococcosis skos:exactMatch EFO:0007229 semapv:UnspecifiedMatching MONDO:0005724 cryptococcosis skos:exactMatch ICD10CM:B45 Cryptococcosis semapv:UnspecifiedMatching MONDO:0005724 cryptococcosis skos:exactMatch ICD10WHO:B45 Cryptococcosis semapv:UnspecifiedMatching MONDO:0005724 cryptococcosis skos:exactMatch MEDGEN:8189 semapv:UnspecifiedMatching MONDO:0005724 cryptococcosis skos:exactMatch NCIT:C2967 Cryptococcosis semapv:UnspecifiedMatching MONDO:0005724 cryptococcosis skos:exactMatch Orphanet:1546 Cryptococcosis semapv:UnspecifiedMatching MONDO:0005724 cryptococcosis skos:exactMatch SCTID:42386007 semapv:UnspecifiedMatching MONDO:0005724 cryptococcosis skos:exactMatch UMLS:C0010414 semapv:UnspecifiedMatching MONDO:0005724 cryptococcosis skos:exactMatch icd11.foundation:390527954 Cryptococcosis semapv:UnspecifiedMatching MONDO:0005724 cryptococcosis skos:exactMatch mesh:D003453 semapv:UnspecifiedMatching MONDO:0005725 cyclosporiasis skos:exactMatch DOID:12750 cyclosporiasis semapv:UnspecifiedMatching MONDO:0005725 cyclosporiasis skos:exactMatch EFO:0007230 semapv:UnspecifiedMatching MONDO:0005725 cyclosporiasis skos:exactMatch ICD10CM:A07.4 Cyclosporiasis semapv:UnspecifiedMatching MONDO:0005725 cyclosporiasis skos:exactMatch MEDGEN:91014 semapv:UnspecifiedMatching MONDO:0005725 cyclosporiasis skos:exactMatch NCIT:C128409 Cyclosporiasis semapv:UnspecifiedMatching MONDO:0005725 cyclosporiasis skos:exactMatch Orphanet:210 Cyclosporiasis semapv:UnspecifiedMatching MONDO:0005725 cyclosporiasis skos:exactMatch SCTID:240372001 semapv:UnspecifiedMatching MONDO:0005725 cyclosporiasis skos:exactMatch SCTID:716860005 semapv:UnspecifiedMatching MONDO:0005725 cyclosporiasis skos:exactMatch UMLS:C0343398 semapv:UnspecifiedMatching MONDO:0005725 cyclosporiasis skos:exactMatch icd11.foundation:833744511 Cyclosporiasis semapv:UnspecifiedMatching MONDO:0005725 cyclosporiasis skos:exactMatch mesh:D021866 semapv:UnspecifiedMatching MONDO:0005728 diaphragm disorder skos:exactMatch DOID:10481 diaphragm disease semapv:UnspecifiedMatching MONDO:0005728 diaphragm disorder skos:exactMatch EFO:0007233 semapv:UnspecifiedMatching MONDO:0005728 diaphragm disorder skos:exactMatch MEDGEN:508886 semapv:UnspecifiedMatching MONDO:0005728 diaphragm disorder skos:exactMatch SCTID:48475001 semapv:UnspecifiedMatching MONDO:0005728 diaphragm disorder skos:exactMatch UMLS:C0152097 semapv:UnspecifiedMatching MONDO:0005729 dicrocoeliasis skos:exactMatch DOID:1219 dicrocoeliasis semapv:UnspecifiedMatching MONDO:0005729 dicrocoeliasis skos:exactMatch MEDGEN:3813 semapv:UnspecifiedMatching MONDO:0005729 dicrocoeliasis skos:exactMatch SCTID:105668007 semapv:UnspecifiedMatching MONDO:0005729 dicrocoeliasis skos:exactMatch UMLS:C0012102 semapv:UnspecifiedMatching MONDO:0005729 dicrocoeliasis skos:exactMatch icd11.foundation:1114361195 Dicrocoeliasis semapv:UnspecifiedMatching MONDO:0005729 dicrocoeliasis skos:exactMatch mesh:D004011 semapv:UnspecifiedMatching MONDO:0005730 Dictyocaulus infectious disease skos:exactMatch mesh:D004022 semapv:UnspecifiedMatching MONDO:0005734 dourine skos:exactMatch SCTID:15566009 semapv:UnspecifiedMatching MONDO:0005734 dourine skos:exactMatch mesh:D004313 semapv:UnspecifiedMatching MONDO:0005736 eastern equine encephalitis skos:exactMatch DOID:10841 Eastern equine encephalitis semapv:UnspecifiedMatching MONDO:0005736 eastern equine encephalitis skos:exactMatch EFO:0007242 semapv:UnspecifiedMatching MONDO:0005736 eastern equine encephalitis skos:exactMatch ICD10CM:A83.2 Eastern equine encephalitis semapv:UnspecifiedMatching MONDO:0005736 eastern equine encephalitis skos:exactMatch MEDGEN:102258 semapv:UnspecifiedMatching MONDO:0005736 eastern equine encephalitis skos:exactMatch Orphanet:83594 Eastern equine encephalitis semapv:UnspecifiedMatching MONDO:0005736 eastern equine encephalitis skos:exactMatch UMLS:C0153065 semapv:UnspecifiedMatching MONDO:0005736 eastern equine encephalitis skos:exactMatch icd11.foundation:682536148 Eastern equine encephalitis semapv:UnspecifiedMatching MONDO:0005736 eastern equine encephalitis skos:exactMatch mesh:D020242 semapv:UnspecifiedMatching MONDO:0005737 Ebola hemorrhagic fever skos:exactMatch DOID:4325 Ebola virus disease semapv:UnspecifiedMatching MONDO:0005737 Ebola hemorrhagic fever skos:exactMatch EFO:0007243 semapv:UnspecifiedMatching MONDO:0005737 Ebola hemorrhagic fever skos:exactMatch ICD10CM:A98.4 Ebola virus disease semapv:UnspecifiedMatching MONDO:0005737 Ebola hemorrhagic fever skos:exactMatch MEDGEN:129219 semapv:UnspecifiedMatching MONDO:0005737 Ebola hemorrhagic fever skos:exactMatch NCIT:C36171 Ebola Hemorrhagic Fever semapv:UnspecifiedMatching MONDO:0005737 Ebola hemorrhagic fever skos:exactMatch Orphanet:319218 Ebola hemorrhagic fever semapv:UnspecifiedMatching MONDO:0005737 Ebola hemorrhagic fever skos:exactMatch SCTID:37109004 semapv:UnspecifiedMatching MONDO:0005737 Ebola hemorrhagic fever skos:exactMatch UMLS:C0282687 semapv:UnspecifiedMatching MONDO:0005737 Ebola hemorrhagic fever skos:exactMatch icd11.foundation:792755706 Ebola virus disease semapv:UnspecifiedMatching MONDO:0005737 Ebola hemorrhagic fever skos:exactMatch mesh:D019142 semapv:UnspecifiedMatching MONDO:0005738 echinococcosis skos:exactMatch DOID:1496 echinococcosis semapv:UnspecifiedMatching MONDO:0005738 echinococcosis skos:exactMatch EFO:0007245 semapv:UnspecifiedMatching MONDO:0005738 echinococcosis skos:exactMatch ICD10CM:B67 Echinococcosis semapv:UnspecifiedMatching MONDO:0005738 echinococcosis skos:exactMatch ICD10WHO:B67 Echinococcosis semapv:UnspecifiedMatching MONDO:0005738 echinococcosis skos:exactMatch MEDGEN:4438 semapv:UnspecifiedMatching MONDO:0005738 echinococcosis skos:exactMatch NCIT:C84682 Echinococcosis semapv:UnspecifiedMatching MONDO:0005738 echinococcosis skos:exactMatch SCTID:74942003 semapv:UnspecifiedMatching MONDO:0005738 echinococcosis skos:exactMatch UMLS:C0013502 semapv:UnspecifiedMatching MONDO:0005738 echinococcosis skos:exactMatch icd11.foundation:1456802165 Echinococcosis semapv:UnspecifiedMatching MONDO:0005738 echinococcosis skos:exactMatch mesh:D004443 semapv:UnspecifiedMatching MONDO:0005739 echinostomiasis skos:exactMatch DOID:1218 echinostomiasis semapv:UnspecifiedMatching MONDO:0005739 echinostomiasis skos:exactMatch EFO:0007246 semapv:UnspecifiedMatching MONDO:0005739 echinostomiasis skos:exactMatch MEDGEN:3956 semapv:UnspecifiedMatching MONDO:0005739 echinostomiasis skos:exactMatch SCTID:52918004 semapv:UnspecifiedMatching MONDO:0005739 echinostomiasis skos:exactMatch UMLS:C0013514 semapv:UnspecifiedMatching MONDO:0005739 echinostomiasis skos:exactMatch icd11.foundation:342249036 Echinostomiasis semapv:UnspecifiedMatching MONDO:0005739 echinostomiasis skos:exactMatch mesh:D004451 semapv:UnspecifiedMatching MONDO:0005740 Echovirus infectious disease skos:exactMatch EFO:0007247 semapv:UnspecifiedMatching MONDO:0005740 Echovirus infectious disease skos:exactMatch MEDGEN:41697 semapv:UnspecifiedMatching MONDO:0005740 Echovirus infectious disease skos:exactMatch SCTID:271532008 semapv:UnspecifiedMatching MONDO:0005740 Echovirus infectious disease skos:exactMatch UMLS:C0013533 semapv:UnspecifiedMatching MONDO:0005740 Echovirus infectious disease skos:exactMatch mesh:D004457 semapv:UnspecifiedMatching MONDO:0005741 obsolete egg allergy skos:exactMatch DOID:4377 egg allergy semapv:UnspecifiedMatching MONDO:0005741 obsolete egg allergy skos:exactMatch SCTID:91930004 semapv:UnspecifiedMatching MONDO:0005741 obsolete egg allergy skos:exactMatch mesh:D021181 semapv:UnspecifiedMatching MONDO:0005742 emphysematous cholecystitis skos:exactMatch DOID:9765 emphysematous cholecystitis semapv:UnspecifiedMatching MONDO:0005742 emphysematous cholecystitis skos:exactMatch MEDGEN:101072 semapv:UnspecifiedMatching MONDO:0005742 emphysematous cholecystitis skos:exactMatch NCIT:C35592 Emphysematous Cholecystitis semapv:UnspecifiedMatching MONDO:0005742 emphysematous cholecystitis skos:exactMatch SCTID:95558008 semapv:UnspecifiedMatching MONDO:0005742 emphysematous cholecystitis skos:exactMatch UMLS:C0521610 semapv:UnspecifiedMatching MONDO:0005742 emphysematous cholecystitis skos:exactMatch icd11.foundation:1530167960 Gaseous pericholecystitis semapv:UnspecifiedMatching MONDO:0005742 emphysematous cholecystitis skos:exactMatch mesh:D041882 semapv:UnspecifiedMatching MONDO:0005743 encephalitozoonosis skos:exactMatch DOID:4270 encephalitozoonosis semapv:UnspecifiedMatching MONDO:0005743 encephalitozoonosis skos:exactMatch EFO:0007250 semapv:UnspecifiedMatching MONDO:0005743 encephalitozoonosis skos:exactMatch MEDGEN:39043 semapv:UnspecifiedMatching MONDO:0005743 encephalitozoonosis skos:exactMatch SCTID:12825006 semapv:UnspecifiedMatching MONDO:0005743 encephalitozoonosis skos:exactMatch UMLS:C0085412 semapv:UnspecifiedMatching MONDO:0005743 encephalitozoonosis skos:exactMatch mesh:D016890 semapv:UnspecifiedMatching MONDO:0005744 yolk sac tumor skos:exactMatch DOID:1911 endodermal sinus tumor semapv:UnspecifiedMatching MONDO:0005744 yolk sac tumor skos:exactMatch EFO:0007252 semapv:UnspecifiedMatching MONDO:0005744 yolk sac tumor skos:exactMatch MEDGEN:41782 semapv:UnspecifiedMatching MONDO:0005744 yolk sac tumor skos:exactMatch NCIT:C3011 Yolk Sac Tumor semapv:UnspecifiedMatching MONDO:0005744 yolk sac tumor skos:exactMatch Orphanet:876 Yolk sac tumor semapv:UnspecifiedMatching MONDO:0005744 yolk sac tumor skos:exactMatch SCTID:404081005 semapv:UnspecifiedMatching MONDO:0005744 yolk sac tumor skos:exactMatch UMLS:C0014145 semapv:UnspecifiedMatching MONDO:0005745 Enoplea infectious disease skos:exactMatch mesh:D017189 semapv:UnspecifiedMatching MONDO:0005746 enterobiasis skos:exactMatch DOID:7457 enterobiasis semapv:UnspecifiedMatching MONDO:0005746 enterobiasis skos:exactMatch EFO:0007254 semapv:UnspecifiedMatching MONDO:0005746 enterobiasis skos:exactMatch ICD10CM:B80 Enterobiasis semapv:UnspecifiedMatching MONDO:0005746 enterobiasis skos:exactMatch ICD10WHO:B80 Enterobiasis semapv:UnspecifiedMatching MONDO:0005746 enterobiasis skos:exactMatch MEDGEN:88540 semapv:UnspecifiedMatching MONDO:0005746 enterobiasis skos:exactMatch NCIT:C128396 Enterobiasis semapv:UnspecifiedMatching MONDO:0005746 enterobiasis skos:exactMatch SCTID:266162007 semapv:UnspecifiedMatching MONDO:0005746 enterobiasis skos:exactMatch UMLS:C0086227 semapv:UnspecifiedMatching MONDO:0005746 enterobiasis skos:exactMatch icd11.foundation:580098307 Enterobiasis semapv:UnspecifiedMatching MONDO:0005746 enterobiasis skos:exactMatch mesh:D017229 semapv:UnspecifiedMatching MONDO:0005747 enterovirus infectious disease skos:exactMatch EFO:0007255 semapv:UnspecifiedMatching MONDO:0005747 enterovirus infectious disease skos:exactMatch MEDGEN:8647 semapv:UnspecifiedMatching MONDO:0005747 enterovirus infectious disease skos:exactMatch SCTID:53648006 semapv:UnspecifiedMatching MONDO:0005747 enterovirus infectious disease skos:exactMatch UMLS:C0014378 semapv:UnspecifiedMatching MONDO:0005747 enterovirus infectious disease skos:exactMatch mesh:D004769 semapv:UnspecifiedMatching MONDO:0005748 enzootic pneumonia of calves skos:exactMatch mesh:D048089 semapv:UnspecifiedMatching MONDO:0005749 eosinophilic pneumonia skos:exactMatch DOID:5870 eosinophilic pneumonia semapv:UnspecifiedMatching MONDO:0005749 eosinophilic pneumonia skos:exactMatch EFO:0007257 semapv:UnspecifiedMatching MONDO:0005749 eosinophilic pneumonia skos:exactMatch MEDGEN:282904 semapv:UnspecifiedMatching MONDO:0005749 eosinophilic pneumonia skos:exactMatch NCIT:C35150 Eosinophilic Pneumonia semapv:UnspecifiedMatching MONDO:0005749 eosinophilic pneumonia skos:exactMatch UMLS:C1527407 semapv:UnspecifiedMatching MONDO:0005750 ephemeral fever skos:exactMatch EFO:0007258 semapv:UnspecifiedMatching MONDO:0005750 ephemeral fever skos:exactMatch mesh:D004810 semapv:UnspecifiedMatching MONDO:0005751 epidemic pleurodynia skos:exactMatch DOID:10882 epidemic pleurodynia semapv:UnspecifiedMatching MONDO:0005751 epidemic pleurodynia skos:exactMatch ICD10CM:B33.0 Epidemic myalgia semapv:UnspecifiedMatching MONDO:0005751 epidemic pleurodynia skos:exactMatch MEDGEN:19355 semapv:UnspecifiedMatching MONDO:0005751 epidemic pleurodynia skos:exactMatch SCTID:83264000 semapv:UnspecifiedMatching MONDO:0005751 epidemic pleurodynia skos:exactMatch UMLS:C0032238 semapv:UnspecifiedMatching MONDO:0005751 epidemic pleurodynia skos:exactMatch mesh:D011000 semapv:UnspecifiedMatching MONDO:0005752 epidural abscess skos:exactMatch DOID:11387 epidural abscess semapv:UnspecifiedMatching MONDO:0005752 epidural abscess skos:exactMatch EFO:0007260 semapv:UnspecifiedMatching MONDO:0005752 epidural abscess skos:exactMatch MEDGEN:82848 semapv:UnspecifiedMatching MONDO:0005752 epidural abscess skos:exactMatch SCTID:61974008 semapv:UnspecifiedMatching MONDO:0005752 epidural abscess skos:exactMatch UMLS:C0270629 semapv:UnspecifiedMatching MONDO:0005752 epidural abscess skos:exactMatch mesh:D020802 semapv:UnspecifiedMatching MONDO:0005753 epiglottitis skos:exactMatch DOID:9398 epiglottitis semapv:UnspecifiedMatching MONDO:0005753 epiglottitis skos:exactMatch EFO:0007261 semapv:UnspecifiedMatching MONDO:0005753 epiglottitis skos:exactMatch MEDGEN:4505 semapv:UnspecifiedMatching MONDO:0005753 epiglottitis skos:exactMatch NCIT:C116007 Epiglottitis semapv:UnspecifiedMatching MONDO:0005753 epiglottitis skos:exactMatch SCTID:80384002 semapv:UnspecifiedMatching MONDO:0005753 epiglottitis skos:exactMatch UMLS:C0014541 semapv:UnspecifiedMatching MONDO:0005753 epiglottitis skos:exactMatch mesh:D004826 semapv:UnspecifiedMatching MONDO:0005754 epilepsy with generalized tonic-clonic seizures skos:exactMatch DOID:7725 epilepsy with generalized tonic-clonic seizures semapv:UnspecifiedMatching MONDO:0005754 epilepsy with generalized tonic-clonic seizures skos:exactMatch EFO:0007262 semapv:UnspecifiedMatching MONDO:0005754 epilepsy with generalized tonic-clonic seizures skos:exactMatch MEDGEN:4987 semapv:UnspecifiedMatching MONDO:0005754 epilepsy with generalized tonic-clonic seizures skos:exactMatch NCIT:C3022 Tonic-Clonic Epilepsy semapv:UnspecifiedMatching MONDO:0005754 epilepsy with generalized tonic-clonic seizures skos:exactMatch Orphanet:698005 Epilepsy with generalized tonic-clonic seizures alone semapv:UnspecifiedMatching MONDO:0005754 epilepsy with generalized tonic-clonic seizures skos:exactMatch SCTID:352818000 semapv:UnspecifiedMatching MONDO:0005754 epilepsy with generalized tonic-clonic seizures skos:exactMatch UMLS:C0014549 semapv:UnspecifiedMatching MONDO:0005754 epilepsy with generalized tonic-clonic seizures skos:exactMatch mesh:D004830 semapv:UnspecifiedMatching MONDO:0005755 equine infectious anemia skos:exactMatch EFO:0007263 semapv:UnspecifiedMatching MONDO:0005755 equine infectious anemia skos:exactMatch NCIT:C84694 Equine Infectious Anemia semapv:UnspecifiedMatching MONDO:0005755 equine infectious anemia skos:exactMatch mesh:D004859 semapv:UnspecifiedMatching MONDO:0005756 ethmoid sinusitis skos:exactMatch DOID:9507 ethmoid sinusitis semapv:UnspecifiedMatching MONDO:0005756 ethmoid sinusitis skos:exactMatch EFO:0007264 semapv:UnspecifiedMatching MONDO:0005756 ethmoid sinusitis skos:exactMatch MEDGEN:5046 semapv:UnspecifiedMatching MONDO:0005756 ethmoid sinusitis skos:exactMatch NCIT:C34597 Ethmoidal Sinusitis semapv:UnspecifiedMatching MONDO:0005756 ethmoid sinusitis skos:exactMatch SCTID:18643000 semapv:UnspecifiedMatching MONDO:0005756 ethmoid sinusitis skos:exactMatch UMLS:C0015029 semapv:UnspecifiedMatching MONDO:0005756 ethmoid sinusitis skos:exactMatch mesh:D015521 semapv:UnspecifiedMatching MONDO:0005757 eumycotic mycetoma skos:exactMatch DOID:13078 eumycotic mycetoma semapv:UnspecifiedMatching MONDO:0005757 eumycotic mycetoma skos:exactMatch EFO:0007265 semapv:UnspecifiedMatching MONDO:0005757 eumycotic mycetoma skos:exactMatch ICD10CM:B47.0 Eumycetoma semapv:UnspecifiedMatching MONDO:0005757 eumycotic mycetoma skos:exactMatch MEDGEN:390045 semapv:UnspecifiedMatching MONDO:0005757 eumycotic mycetoma skos:exactMatch SCTID:410038006 semapv:UnspecifiedMatching MONDO:0005757 eumycotic mycetoma skos:exactMatch UMLS:C2350621 semapv:UnspecifiedMatching MONDO:0005758 eunuchism skos:exactMatch DOID:5003 eunuchism semapv:UnspecifiedMatching MONDO:0005758 eunuchism skos:exactMatch EFO:0007266 semapv:UnspecifiedMatching MONDO:0005758 eunuchism skos:exactMatch MEDGEN:65949 semapv:UnspecifiedMatching MONDO:0005758 eunuchism skos:exactMatch NCIT:C131195 Primary Testicular Failure semapv:UnspecifiedMatching MONDO:0005758 eunuchism skos:exactMatch SCTID:267403002 semapv:UnspecifiedMatching MONDO:0005758 eunuchism skos:exactMatch UMLS:C0238117 semapv:UnspecifiedMatching MONDO:0005758 eunuchism skos:exactMatch mesh:D005058 semapv:UnspecifiedMatching MONDO:0005759 fascioloidiasis skos:exactMatch DOID:1217 fascioloidiasis semapv:UnspecifiedMatching MONDO:0005759 fascioloidiasis skos:exactMatch MEDGEN:8791 semapv:UnspecifiedMatching MONDO:0005759 fascioloidiasis skos:exactMatch SCTID:69550000 semapv:UnspecifiedMatching MONDO:0005759 fascioloidiasis skos:exactMatch UMLS:C0015655 semapv:UnspecifiedMatching MONDO:0005759 fascioloidiasis skos:exactMatch mesh:D005213 semapv:UnspecifiedMatching MONDO:0005761 filarial elephantiasis skos:exactMatch DOID:12211 filarial elephantiasis semapv:UnspecifiedMatching MONDO:0005761 filarial elephantiasis skos:exactMatch EFO:0007272 semapv:UnspecifiedMatching MONDO:0005761 filarial elephantiasis skos:exactMatch MEDGEN:8583 semapv:UnspecifiedMatching MONDO:0005761 filarial elephantiasis skos:exactMatch NCIT:C128360 Lymphatic Filariasis semapv:UnspecifiedMatching MONDO:0005761 filarial elephantiasis skos:exactMatch Orphanet:2035 Lymphatic filariasis semapv:UnspecifiedMatching MONDO:0005761 filarial elephantiasis skos:exactMatch SCTID:14100003 semapv:UnspecifiedMatching MONDO:0005761 filarial elephantiasis skos:exactMatch SCTID:240820001 semapv:UnspecifiedMatching MONDO:0005761 filarial elephantiasis skos:exactMatch UMLS:C0013884 semapv:UnspecifiedMatching MONDO:0005761 filarial elephantiasis skos:exactMatch icd11.foundation:247221550 Lymphatic filariasis semapv:UnspecifiedMatching MONDO:0005761 filarial elephantiasis skos:exactMatch mesh:D004605 semapv:UnspecifiedMatching MONDO:0005762 Filoviridae infectious disease skos:exactMatch MEDGEN:67006 semapv:UnspecifiedMatching MONDO:0005762 Filoviridae infectious disease skos:exactMatch UMLS:C0242917 semapv:UnspecifiedMatching MONDO:0005762 Filoviridae infectious disease skos:exactMatch mesh:D018702 semapv:UnspecifiedMatching MONDO:0005763 Flaviviridae infectious disease skos:exactMatch EFO:0007274 semapv:UnspecifiedMatching MONDO:0005763 Flaviviridae infectious disease skos:exactMatch SCTID:111865007 semapv:UnspecifiedMatching MONDO:0005763 Flaviviridae infectious disease skos:exactMatch mesh:D018178 semapv:UnspecifiedMatching MONDO:0005764 follicular dendritic cell sarcoma skos:exactMatch DOID:6262 follicular dendritic cell sarcoma semapv:UnspecifiedMatching MONDO:0005764 follicular dendritic cell sarcoma skos:exactMatch EFO:0007276 semapv:UnspecifiedMatching MONDO:0005764 follicular dendritic cell sarcoma skos:exactMatch MEDGEN:220355 semapv:UnspecifiedMatching MONDO:0005764 follicular dendritic cell sarcoma skos:exactMatch NCIT:C9281 Follicular Dendritic Cell Sarcoma semapv:UnspecifiedMatching MONDO:0005764 follicular dendritic cell sarcoma skos:exactMatch Orphanet:86902 Follicular dendritic cell sarcoma semapv:UnspecifiedMatching MONDO:0005764 follicular dendritic cell sarcoma skos:exactMatch UMLS:C1260325 semapv:UnspecifiedMatching MONDO:0005764 follicular dendritic cell sarcoma skos:exactMatch icd11.foundation:149373156 semapv:UnspecifiedMatching MONDO:0005764 follicular dendritic cell sarcoma skos:exactMatch icd11.foundation:15445528 Follicular dendritic cell sarcoma semapv:UnspecifiedMatching MONDO:0005764 follicular dendritic cell sarcoma skos:exactMatch mesh:D054740 semapv:UnspecifiedMatching MONDO:0005765 foot and mouth disease skos:exactMatch EFO:0007277 semapv:UnspecifiedMatching MONDO:0005765 foot and mouth disease skos:exactMatch icd11.foundation:1008730501 Foot and mouth disease semapv:UnspecifiedMatching MONDO:0005765 foot and mouth disease skos:exactMatch mesh:D005536 semapv:UnspecifiedMatching MONDO:0005766 fungal lung infectious disease skos:exactMatch EFO:0007278 semapv:UnspecifiedMatching MONDO:0005766 fungal lung infectious disease skos:exactMatch MEDGEN:6144 semapv:UnspecifiedMatching MONDO:0005766 fungal lung infectious disease skos:exactMatch UMLS:C0024116 semapv:UnspecifiedMatching MONDO:0005766 fungal lung infectious disease skos:exactMatch mesh:D008172 semapv:UnspecifiedMatching MONDO:0005767 gas gangrene skos:exactMatch DOID:9159 gas gangrene semapv:UnspecifiedMatching MONDO:0005767 gas gangrene skos:exactMatch EFO:0007279 semapv:UnspecifiedMatching MONDO:0005767 gas gangrene skos:exactMatch ICD10CM:A48.0 Gas gangrene semapv:UnspecifiedMatching MONDO:0005767 gas gangrene skos:exactMatch MEDGEN:8959 semapv:UnspecifiedMatching MONDO:0005767 gas gangrene skos:exactMatch SCTID:80466000 semapv:UnspecifiedMatching MONDO:0005767 gas gangrene skos:exactMatch UMLS:C0017105 semapv:UnspecifiedMatching MONDO:0005767 gas gangrene skos:exactMatch icd11.foundation:1920227791 Gas gangrene semapv:UnspecifiedMatching MONDO:0005767 gas gangrene skos:exactMatch mesh:D005738 semapv:UnspecifiedMatching MONDO:0005768 gastrointestinal tuberculosis skos:exactMatch DOID:404 gastrointestinal tuberculosis semapv:UnspecifiedMatching MONDO:0005768 gastrointestinal tuberculosis skos:exactMatch EFO:0007280 semapv:UnspecifiedMatching MONDO:0005768 gastrointestinal tuberculosis skos:exactMatch MEDGEN:52885 semapv:UnspecifiedMatching MONDO:0005768 gastrointestinal tuberculosis skos:exactMatch SCTID:186225008 semapv:UnspecifiedMatching MONDO:0005768 gastrointestinal tuberculosis skos:exactMatch UMLS:C0041312 semapv:UnspecifiedMatching MONDO:0005768 gastrointestinal tuberculosis skos:exactMatch mesh:D014385 semapv:UnspecifiedMatching MONDO:0005769 geniculate herpes zoster skos:exactMatch DOID:9210 Ramsay Hunt syndrome semapv:UnspecifiedMatching MONDO:0005769 geniculate herpes zoster skos:exactMatch EFO:0007281 semapv:UnspecifiedMatching MONDO:0005769 geniculate herpes zoster skos:exactMatch MEDGEN:6581 semapv:UnspecifiedMatching MONDO:0005769 geniculate herpes zoster skos:exactMatch NCIT:C84763 Herpes Zoster Oticus semapv:UnspecifiedMatching MONDO:0005769 geniculate herpes zoster skos:exactMatch Orphanet:3020 Ramsay Hunt syndrome semapv:UnspecifiedMatching MONDO:0005769 geniculate herpes zoster skos:exactMatch SCTID:95670000 semapv:UnspecifiedMatching MONDO:0005769 geniculate herpes zoster skos:exactMatch UMLS:C0017409 semapv:UnspecifiedMatching MONDO:0005770 genital herpes skos:exactMatch DOID:8704 genital herpes semapv:UnspecifiedMatching MONDO:0005770 genital herpes skos:exactMatch EFO:0007282 semapv:UnspecifiedMatching MONDO:0005770 genital herpes skos:exactMatch MEDGEN:42436 semapv:UnspecifiedMatching MONDO:0005770 genital herpes skos:exactMatch NCIT:C14364 Genital Herpes semapv:UnspecifiedMatching MONDO:0005770 genital herpes skos:exactMatch SCTID:33839006 semapv:UnspecifiedMatching MONDO:0005770 genital herpes skos:exactMatch UMLS:C0019342 semapv:UnspecifiedMatching MONDO:0005770 genital herpes skos:exactMatch mesh:D006558 semapv:UnspecifiedMatching MONDO:0005771 geographic tongue skos:exactMatch DOID:1455 geographic tongue semapv:UnspecifiedMatching MONDO:0005771 geographic tongue skos:exactMatch EFO:0007283 semapv:UnspecifiedMatching MONDO:0005771 geographic tongue skos:exactMatch ICD10CM:K14.1 Geographic tongue semapv:UnspecifiedMatching MONDO:0005771 geographic tongue skos:exactMatch MEDGEN:6619 semapv:UnspecifiedMatching MONDO:0005771 geographic tongue skos:exactMatch NCIT:C84588 Benign Migratory Glossitis semapv:UnspecifiedMatching MONDO:0005771 geographic tongue skos:exactMatch SCTID:59032001 semapv:UnspecifiedMatching MONDO:0005771 geographic tongue skos:exactMatch UMLS:C0017677 semapv:UnspecifiedMatching MONDO:0005771 geographic tongue skos:exactMatch icd11.foundation:1460387786 Geographic tongue semapv:UnspecifiedMatching MONDO:0005772 geotrichosis skos:exactMatch DOID:2832 geotrichosis semapv:UnspecifiedMatching MONDO:0005772 geotrichosis skos:exactMatch ICD10CM:B48.3 Geotrichosis semapv:UnspecifiedMatching MONDO:0005772 geotrichosis skos:exactMatch MEDGEN:42202 semapv:UnspecifiedMatching MONDO:0005772 geotrichosis skos:exactMatch SCTID:13969006 semapv:UnspecifiedMatching MONDO:0005772 geotrichosis skos:exactMatch UMLS:C0017455 semapv:UnspecifiedMatching MONDO:0005772 geotrichosis skos:exactMatch icd11.foundation:1432903072 Geotrichosis semapv:UnspecifiedMatching MONDO:0005772 geotrichosis skos:exactMatch mesh:D005847 semapv:UnspecifiedMatching MONDO:0005773 Gerstmann syndrome skos:exactMatch DOID:4969 Gerstmann syndrome semapv:UnspecifiedMatching MONDO:0005773 Gerstmann syndrome skos:exactMatch EFO:0007285 semapv:UnspecifiedMatching MONDO:0005773 Gerstmann syndrome skos:exactMatch MEDGEN:42208 semapv:UnspecifiedMatching MONDO:0005773 Gerstmann syndrome skos:exactMatch Orphanet:221117 Gerstmann syndrome semapv:UnspecifiedMatching MONDO:0005773 Gerstmann syndrome skos:exactMatch SCTID:36785009 semapv:UnspecifiedMatching MONDO:0005773 Gerstmann syndrome skos:exactMatch UMLS:C0017494 semapv:UnspecifiedMatching MONDO:0005773 Gerstmann syndrome skos:exactMatch icd11.foundation:1121787098 Gerstmann syndrome semapv:UnspecifiedMatching MONDO:0005773 Gerstmann syndrome skos:exactMatch mesh:D005862 semapv:UnspecifiedMatching MONDO:0005774 glanders skos:exactMatch DOID:13444 glanders semapv:UnspecifiedMatching MONDO:0005774 glanders skos:exactMatch EFO:0007286 semapv:UnspecifiedMatching MONDO:0005774 glanders skos:exactMatch ICD10CM:A24.0 Glanders semapv:UnspecifiedMatching MONDO:0005774 glanders skos:exactMatch MEDGEN:42221 semapv:UnspecifiedMatching MONDO:0005774 glanders skos:exactMatch NCIT:C34638 Glanders semapv:UnspecifiedMatching MONDO:0005774 glanders skos:exactMatch Orphanet:659908 Glanders semapv:UnspecifiedMatching MONDO:0005774 glanders skos:exactMatch SCTID:4639008 semapv:UnspecifiedMatching MONDO:0005774 glanders skos:exactMatch UMLS:C0017589 semapv:UnspecifiedMatching MONDO:0005774 glanders skos:exactMatch icd11.foundation:1563156715 Glanders semapv:UnspecifiedMatching MONDO:0005774 glanders skos:exactMatch mesh:D005896 semapv:UnspecifiedMatching MONDO:0005775 G6PD deficiency skos:exactMatch DOID:2862 glucosephosphate dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0005775 G6PD deficiency skos:exactMatch EFO:0007287 semapv:UnspecifiedMatching MONDO:0005775 G6PD deficiency skos:exactMatch MEDGEN:473706 semapv:UnspecifiedMatching MONDO:0005775 G6PD deficiency skos:exactMatch NCIT:C98933 Glucose-6-Phosphate Dehydrogenase Deficiency semapv:UnspecifiedMatching MONDO:0005775 G6PD deficiency skos:exactMatch SCTID:62403005 semapv:UnspecifiedMatching MONDO:0005775 G6PD deficiency skos:exactMatch UMLS:C2939465 semapv:UnspecifiedMatching MONDO:0005775 G6PD deficiency skos:exactMatch mesh:D005955 semapv:UnspecifiedMatching MONDO:0005776 gnathomiasis skos:exactMatch DOID:11379 gnathomiasis semapv:UnspecifiedMatching MONDO:0005776 gnathomiasis skos:exactMatch EFO:0007289 semapv:UnspecifiedMatching MONDO:0005776 gnathomiasis skos:exactMatch ICD10CM:B83.1 Gnathostomiasis semapv:UnspecifiedMatching MONDO:0005776 gnathomiasis skos:exactMatch MEDGEN:6651 semapv:UnspecifiedMatching MONDO:0005776 gnathomiasis skos:exactMatch NCIT:C128395 Gnathostomiasis semapv:UnspecifiedMatching MONDO:0005776 gnathomiasis skos:exactMatch SCTID:44086001 semapv:UnspecifiedMatching MONDO:0005776 gnathomiasis skos:exactMatch UMLS:C0018013 semapv:UnspecifiedMatching MONDO:0005776 gnathomiasis skos:exactMatch mesh:D058429 semapv:UnspecifiedMatching MONDO:0005777 granuloma inguinale skos:exactMatch DOID:9113 granuloma inguinale semapv:UnspecifiedMatching MONDO:0005777 granuloma inguinale skos:exactMatch EFO:0007291 semapv:UnspecifiedMatching MONDO:0005777 granuloma inguinale skos:exactMatch ICD10CM:A58 Granuloma inguinale semapv:UnspecifiedMatching MONDO:0005777 granuloma inguinale skos:exactMatch ICD10WHO:A58 Granuloma inguinale semapv:UnspecifiedMatching MONDO:0005777 granuloma inguinale skos:exactMatch MEDGEN:42291 semapv:UnspecifiedMatching MONDO:0005777 granuloma inguinale skos:exactMatch NCIT:C3065 Granuloma Inguinale semapv:UnspecifiedMatching MONDO:0005777 granuloma inguinale skos:exactMatch SCTID:28867007 semapv:UnspecifiedMatching MONDO:0005777 granuloma inguinale skos:exactMatch UMLS:C0018190 semapv:UnspecifiedMatching MONDO:0005777 granuloma inguinale skos:exactMatch icd11.foundation:764124124 Granuloma inguinale semapv:UnspecifiedMatching MONDO:0005777 granuloma inguinale skos:exactMatch mesh:D006100 semapv:UnspecifiedMatching MONDO:0005778 haemonchiasis skos:exactMatch DOID:3332 haemonchiasis semapv:UnspecifiedMatching MONDO:0005778 haemonchiasis skos:exactMatch MEDGEN:42320 semapv:UnspecifiedMatching MONDO:0005778 haemonchiasis skos:exactMatch UMLS:C0018477 semapv:UnspecifiedMatching MONDO:0005778 haemonchiasis skos:exactMatch mesh:D006188 semapv:UnspecifiedMatching MONDO:0005779 hand, foot and mouth disease skos:exactMatch DOID:10881 hand, foot and mouth disease semapv:UnspecifiedMatching MONDO:0005779 hand, foot and mouth disease skos:exactMatch EFO:0007294 semapv:UnspecifiedMatching MONDO:0005779 hand, foot and mouth disease skos:exactMatch ICD10CM:B08.4 Enteroviral vesicular stomatitis with exanthem semapv:UnspecifiedMatching MONDO:0005779 hand, foot and mouth disease skos:exactMatch MEDGEN:42330 semapv:UnspecifiedMatching MONDO:0005779 hand, foot and mouth disease skos:exactMatch NCIT:C128439 Hand Foot and Mouth Disease semapv:UnspecifiedMatching MONDO:0005779 hand, foot and mouth disease skos:exactMatch SCTID:266108008 semapv:UnspecifiedMatching MONDO:0005779 hand, foot and mouth disease skos:exactMatch UMLS:C0018572 semapv:UnspecifiedMatching MONDO:0005779 hand, foot and mouth disease skos:exactMatch mesh:D006232 semapv:UnspecifiedMatching MONDO:0005780 hantavirus infectious disease skos:exactMatch EFO:0007295 semapv:UnspecifiedMatching MONDO:0005780 hantavirus infectious disease skos:exactMatch MEDGEN:67028 semapv:UnspecifiedMatching MONDO:0005780 hantavirus infectious disease skos:exactMatch NCIT:C3899 Hantavirus Infection semapv:UnspecifiedMatching MONDO:0005780 hantavirus infectious disease skos:exactMatch SCTID:359761005 semapv:UnspecifiedMatching MONDO:0005780 hantavirus infectious disease skos:exactMatch UMLS:C0242994 semapv:UnspecifiedMatching MONDO:0005780 hantavirus infectious disease skos:exactMatch mesh:D018778 semapv:UnspecifiedMatching MONDO:0005783 hemopericardium skos:exactMatch DOID:11482 hemopericardium semapv:UnspecifiedMatching MONDO:0005783 hemopericardium skos:exactMatch EFO:0007298 semapv:UnspecifiedMatching MONDO:0005783 hemopericardium skos:exactMatch MEDGEN:6795 semapv:UnspecifiedMatching MONDO:0005783 hemopericardium skos:exactMatch SCTID:23412002 semapv:UnspecifiedMatching MONDO:0005783 hemopericardium skos:exactMatch UMLS:C0019064 semapv:UnspecifiedMatching MONDO:0005783 hemopericardium skos:exactMatch icd11.foundation:304055010 Haemopericardium semapv:UnspecifiedMatching MONDO:0005784 hantavirus hemorrhagic fever with renal syndrome skos:exactMatch DOID:11266 Hantavirus hemorrhagic fever with renal syndrome semapv:UnspecifiedMatching MONDO:0005784 hantavirus hemorrhagic fever with renal syndrome skos:exactMatch ICD10CM:A98.5 Hemorrhagic fever with renal syndrome semapv:UnspecifiedMatching MONDO:0005784 hantavirus hemorrhagic fever with renal syndrome skos:exactMatch NCIT:C84753 Hemorrhagic Fever with Renal Syndrome semapv:UnspecifiedMatching MONDO:0005784 hantavirus hemorrhagic fever with renal syndrome skos:exactMatch SCTID:102455002 semapv:UnspecifiedMatching MONDO:0005785 henipavirus infectious disease skos:exactMatch EFO:0007300 semapv:UnspecifiedMatching MONDO:0005785 henipavirus infectious disease skos:exactMatch mesh:D045464 semapv:UnspecifiedMatching MONDO:0005786 Hepadnaviridae infectious disease skos:exactMatch MEDGEN:64649 semapv:UnspecifiedMatching MONDO:0005786 Hepadnaviridae infectious disease skos:exactMatch UMLS:C0206746 semapv:UnspecifiedMatching MONDO:0005786 Hepadnaviridae infectious disease skos:exactMatch mesh:D018347 semapv:UnspecifiedMatching MONDO:0005787 hepatic tuberculosis skos:exactMatch DOID:407 hepatic tuberculosis semapv:UnspecifiedMatching MONDO:0005787 hepatic tuberculosis skos:exactMatch EFO:0007302 semapv:UnspecifiedMatching MONDO:0005787 hepatic tuberculosis skos:exactMatch MEDGEN:11944 semapv:UnspecifiedMatching MONDO:0005787 hepatic tuberculosis skos:exactMatch SCTID:186273003 semapv:UnspecifiedMatching MONDO:0005787 hepatic tuberculosis skos:exactMatch UMLS:C0041313 semapv:UnspecifiedMatching MONDO:0005787 hepatic tuberculosis skos:exactMatch icd11.foundation:742775377 Tuberculosis of liver semapv:UnspecifiedMatching MONDO:0005787 hepatic tuberculosis skos:exactMatch mesh:D014386 semapv:UnspecifiedMatching MONDO:0005788 hepatitis E virus infection skos:exactMatch DOID:4411 hepatitis E semapv:UnspecifiedMatching MONDO:0005788 hepatitis E virus infection skos:exactMatch EFO:0007303 semapv:UnspecifiedMatching MONDO:0005788 hepatitis E virus infection skos:exactMatch MEDGEN:88376 semapv:UnspecifiedMatching MONDO:0005788 hepatitis E virus infection skos:exactMatch SCTID:7111000119109 semapv:UnspecifiedMatching MONDO:0005788 hepatitis E virus infection skos:exactMatch UMLS:C0085293 semapv:UnspecifiedMatching MONDO:0005788 hepatitis E virus infection skos:exactMatch mesh:D016751 semapv:UnspecifiedMatching MONDO:0005789 hepatitis D virus infection skos:exactMatch DOID:2047 hepatitis D semapv:UnspecifiedMatching MONDO:0005789 hepatitis D virus infection skos:exactMatch EFO:0007304 semapv:UnspecifiedMatching MONDO:0005789 hepatitis D virus infection skos:exactMatch MEDGEN:4182 semapv:UnspecifiedMatching MONDO:0005789 hepatitis D virus infection skos:exactMatch Orphanet:402823 Hepatitis delta semapv:UnspecifiedMatching MONDO:0005789 hepatitis D virus infection skos:exactMatch SCTID:707341005 semapv:UnspecifiedMatching MONDO:0005789 hepatitis D virus infection skos:exactMatch UMLS:C0011226 semapv:UnspecifiedMatching MONDO:0005789 hepatitis D virus infection skos:exactMatch mesh:D003699 semapv:UnspecifiedMatching MONDO:0005790 hepatitis A virus infection skos:exactMatch DOID:12549 hepatitis A semapv:UnspecifiedMatching MONDO:0005790 hepatitis A virus infection skos:exactMatch EFO:0007305 semapv:UnspecifiedMatching MONDO:0005790 hepatitis A virus infection skos:exactMatch MEDGEN:42418 semapv:UnspecifiedMatching MONDO:0005790 hepatitis A virus infection skos:exactMatch NCIT:C3096 Hepatitis A Infection semapv:UnspecifiedMatching MONDO:0005790 hepatitis A virus infection skos:exactMatch SCTID:40468003 semapv:UnspecifiedMatching MONDO:0005790 hepatitis A virus infection skos:exactMatch UMLS:C0019159 semapv:UnspecifiedMatching MONDO:0005790 hepatitis A virus infection skos:exactMatch mesh:D006506 semapv:UnspecifiedMatching MONDO:0005791 herpangina skos:exactMatch DOID:10883 herpangina semapv:UnspecifiedMatching MONDO:0005791 herpangina skos:exactMatch EFO:0007306 semapv:UnspecifiedMatching MONDO:0005791 herpangina skos:exactMatch ICD10CM:B08.5 Enteroviral vesicular pharyngitis semapv:UnspecifiedMatching MONDO:0005791 herpangina skos:exactMatch MEDGEN:42435 semapv:UnspecifiedMatching MONDO:0005791 herpangina skos:exactMatch SCTID:274102007 semapv:UnspecifiedMatching MONDO:0005791 herpangina skos:exactMatch UMLS:C0019338 semapv:UnspecifiedMatching MONDO:0005791 herpangina skos:exactMatch mesh:D006557 semapv:UnspecifiedMatching MONDO:0005792 herpes simplex virus gingivostomatitis skos:exactMatch EFO:0007307 semapv:UnspecifiedMatching MONDO:0005792 herpes simplex virus gingivostomatitis skos:exactMatch SCTID:57920007 semapv:UnspecifiedMatching MONDO:0005792 herpes simplex virus gingivostomatitis skos:exactMatch mesh:D013283 semapv:UnspecifiedMatching MONDO:0005794 Herpesviridae infectious disease skos:exactMatch EFO:0007309 semapv:UnspecifiedMatching MONDO:0005794 Herpesviridae infectious disease skos:exactMatch SCTID:23513009 semapv:UnspecifiedMatching MONDO:0005794 Herpesviridae infectious disease skos:exactMatch mesh:D006566 semapv:UnspecifiedMatching MONDO:0005796 HIV enteropathy skos:exactMatch EFO:0007311 semapv:UnspecifiedMatching MONDO:0005796 HIV enteropathy skos:exactMatch MEDGEN:79492 semapv:UnspecifiedMatching MONDO:0005796 HIV enteropathy skos:exactMatch UMLS:C0282616 semapv:UnspecifiedMatching MONDO:0005796 HIV enteropathy skos:exactMatch mesh:D019053 semapv:UnspecifiedMatching MONDO:0005797 HIV wasting syndrome skos:exactMatch EFO:0007312 semapv:UnspecifiedMatching MONDO:0005797 HIV wasting syndrome skos:exactMatch MEDGEN:87476 semapv:UnspecifiedMatching MONDO:0005797 HIV wasting syndrome skos:exactMatch Orphanet:90081 AIDS wasting syndrome semapv:UnspecifiedMatching MONDO:0005797 HIV wasting syndrome skos:exactMatch UMLS:C0343755 semapv:UnspecifiedMatching MONDO:0005797 HIV wasting syndrome skos:exactMatch mesh:D019247 semapv:UnspecifiedMatching MONDO:0005798 HIV-associated nephropathy skos:exactMatch EFO:0007313 semapv:UnspecifiedMatching MONDO:0005798 HIV-associated nephropathy skos:exactMatch MEDGEN:37145 semapv:UnspecifiedMatching MONDO:0005798 HIV-associated nephropathy skos:exactMatch NCIT:C26918 HIV-Associated Nephropathy semapv:UnspecifiedMatching MONDO:0005798 HIV-associated nephropathy skos:exactMatch UMLS:C0078911 semapv:UnspecifiedMatching MONDO:0005798 HIV-associated nephropathy skos:exactMatch mesh:D016263 semapv:UnspecifiedMatching MONDO:0005799 hookworm infectious disease skos:exactMatch EFO:0007314 semapv:UnspecifiedMatching MONDO:0005800 hordeolum skos:exactMatch DOID:9909 hordeolum semapv:UnspecifiedMatching MONDO:0005800 hordeolum skos:exactMatch MEDGEN:6884 semapv:UnspecifiedMatching MONDO:0005800 hordeolum skos:exactMatch NCIT:C118722 Stye semapv:UnspecifiedMatching MONDO:0005800 hordeolum skos:exactMatch SCTID:397513003 semapv:UnspecifiedMatching MONDO:0005800 hordeolum skos:exactMatch UMLS:C0019917 semapv:UnspecifiedMatching MONDO:0005800 hordeolum skos:exactMatch icd11.foundation:1259721857 Hordeolum semapv:UnspecifiedMatching MONDO:0005800 hordeolum skos:exactMatch mesh:D006726 semapv:UnspecifiedMatching MONDO:0005801 human T-lymphotropic virus 1 infectious disease skos:exactMatch EFO:0007316 semapv:UnspecifiedMatching MONDO:0005801 human T-lymphotropic virus 1 infectious disease skos:exactMatch MEDGEN:6919 semapv:UnspecifiedMatching MONDO:0005801 human T-lymphotropic virus 1 infectious disease skos:exactMatch UMLS:C0020097 semapv:UnspecifiedMatching MONDO:0005801 human T-lymphotropic virus 1 infectious disease skos:exactMatch mesh:D015490 semapv:UnspecifiedMatching MONDO:0005802 hymenolepiasis skos:exactMatch DOID:10074 hymenolepiasis semapv:UnspecifiedMatching MONDO:0005802 hymenolepiasis skos:exactMatch EFO:0007317 semapv:UnspecifiedMatching MONDO:0005802 hymenolepiasis skos:exactMatch ICD10CM:B71.0 Hymenolepiasis semapv:UnspecifiedMatching MONDO:0005802 hymenolepiasis skos:exactMatch MEDGEN:43772 semapv:UnspecifiedMatching MONDO:0005802 hymenolepiasis skos:exactMatch NCIT:C84768 Hymenolepiasis semapv:UnspecifiedMatching MONDO:0005802 hymenolepiasis skos:exactMatch Orphanet:401 Hymenolepiasis semapv:UnspecifiedMatching MONDO:0005802 hymenolepiasis skos:exactMatch SCTID:44917000 semapv:UnspecifiedMatching MONDO:0005802 hymenolepiasis skos:exactMatch UMLS:C0020413 semapv:UnspecifiedMatching MONDO:0005802 hymenolepiasis skos:exactMatch icd11.foundation:2028864113 Hymenolepiasis semapv:UnspecifiedMatching MONDO:0005802 hymenolepiasis skos:exactMatch mesh:D006925 semapv:UnspecifiedMatching MONDO:0005803 hyperinsulinemic hypoglycemia skos:exactMatch DOID:13317 hyperinsulinemic hypoglycemia semapv:UnspecifiedMatching MONDO:0005803 hyperinsulinemic hypoglycemia skos:exactMatch EFO:0007318 semapv:UnspecifiedMatching MONDO:0005803 hyperinsulinemic hypoglycemia skos:exactMatch MEDGEN:351247 semapv:UnspecifiedMatching MONDO:0005803 hyperinsulinemic hypoglycemia skos:exactMatch OMIMPS:256450 Hyperinsulinemia hypoglycemia semapv:UnspecifiedMatching MONDO:0005803 hyperinsulinemic hypoglycemia skos:exactMatch Orphanet:443095 Hyperinsulinemic hypoglycaemia semapv:UnspecifiedMatching MONDO:0005803 hyperinsulinemic hypoglycemia skos:exactMatch SCTID:42681006 semapv:UnspecifiedMatching MONDO:0005803 hyperinsulinemic hypoglycemia skos:exactMatch UMLS:C1864903 semapv:UnspecifiedMatching MONDO:0005804 hyperprolactinemia skos:exactMatch EFO:0007319 semapv:UnspecifiedMatching MONDO:0005804 hyperprolactinemia skos:exactMatch ICD10CM:E22.1 Hyperprolactinemia semapv:UnspecifiedMatching MONDO:0005804 hyperprolactinemia skos:exactMatch MEDGEN:5698 semapv:UnspecifiedMatching MONDO:0005804 hyperprolactinemia skos:exactMatch SCTID:237662005 semapv:UnspecifiedMatching MONDO:0005804 hyperprolactinemia skos:exactMatch UMLS:C0020514 semapv:UnspecifiedMatching MONDO:0005804 hyperprolactinemia skos:exactMatch mesh:D006966 semapv:UnspecifiedMatching MONDO:0005805 hypodermyiasis skos:exactMatch DOID:12926 hypodermyiasis semapv:UnspecifiedMatching MONDO:0005805 hypodermyiasis skos:exactMatch MEDGEN:5708 semapv:UnspecifiedMatching MONDO:0005805 hypodermyiasis skos:exactMatch UMLS:C0020607 semapv:UnspecifiedMatching MONDO:0005805 hypodermyiasis skos:exactMatch mesh:D007000 semapv:UnspecifiedMatching MONDO:0005806 hypopharynx cancer skos:exactMatch DOID:8533 hypopharynx cancer semapv:UnspecifiedMatching MONDO:0005806 hypopharynx cancer skos:exactMatch EFO:0007321 semapv:UnspecifiedMatching MONDO:0005806 hypopharynx cancer skos:exactMatch ICD10CM:C13 Malignant neoplasm of hypopharynx semapv:UnspecifiedMatching MONDO:0005806 hypopharynx cancer skos:exactMatch MEDGEN:102266 semapv:UnspecifiedMatching MONDO:0005806 hypopharynx cancer skos:exactMatch NCIT:C7190 Malignant Hypopharyngeal Neoplasm semapv:UnspecifiedMatching MONDO:0005806 hypopharynx cancer skos:exactMatch SCTID:303012000 semapv:UnspecifiedMatching MONDO:0005806 hypopharynx cancer skos:exactMatch UMLS:C0153398 semapv:UnspecifiedMatching MONDO:0005806 hypopharynx cancer skos:exactMatch icd11.foundation:826670225 Malignant neoplasms of hypopharynx semapv:UnspecifiedMatching MONDO:0005806 hypopharynx cancer skos:exactMatch mesh:D007012 semapv:UnspecifiedMatching MONDO:0005807 idiopathic CD4-positive T-lymphocytopenia skos:exactMatch DOID:3109 idiopathic CD4-positive T-lymphocytopenia semapv:UnspecifiedMatching MONDO:0005807 idiopathic CD4-positive T-lymphocytopenia skos:exactMatch MEDGEN:64647 semapv:UnspecifiedMatching MONDO:0005807 idiopathic CD4-positive T-lymphocytopenia skos:exactMatch NCIT:C84780 Idiopathic CD4-Positive T-Lymphocytopenia semapv:UnspecifiedMatching MONDO:0005807 idiopathic CD4-positive T-lymphocytopenia skos:exactMatch UMLS:C0206744 semapv:UnspecifiedMatching MONDO:0005807 idiopathic CD4-positive T-lymphocytopenia skos:exactMatch mesh:D018344 semapv:UnspecifiedMatching MONDO:0005808 inclusion conjunctivitis skos:exactMatch DOID:13800 inclusion conjunctivitis semapv:UnspecifiedMatching MONDO:0005808 inclusion conjunctivitis skos:exactMatch EFO:0007324 semapv:UnspecifiedMatching MONDO:0005808 inclusion conjunctivitis skos:exactMatch ICD10CM:A74.0 Chlamydial conjunctivitis semapv:UnspecifiedMatching MONDO:0005808 inclusion conjunctivitis skos:exactMatch MEDGEN:1095 semapv:UnspecifiedMatching MONDO:0005808 inclusion conjunctivitis skos:exactMatch NCIT:C116817 Neonatal Chlamydia Conjunctivitis semapv:UnspecifiedMatching MONDO:0005808 inclusion conjunctivitis skos:exactMatch SCTID:231861005 semapv:UnspecifiedMatching MONDO:0005808 inclusion conjunctivitis skos:exactMatch UMLS:C0009770 semapv:UnspecifiedMatching MONDO:0005808 inclusion conjunctivitis skos:exactMatch mesh:D003235 semapv:UnspecifiedMatching MONDO:0005809 infectious ectromelia skos:exactMatch mesh:D004482 semapv:UnspecifiedMatching MONDO:0005810 infectious mononucleosis skos:exactMatch DOID:8568 infectious mononucleosis semapv:UnspecifiedMatching MONDO:0005810 infectious mononucleosis skos:exactMatch EFO:0007326 semapv:UnspecifiedMatching MONDO:0005810 infectious mononucleosis skos:exactMatch ICD10WHO:B27 Infectious mononucleosis semapv:UnspecifiedMatching MONDO:0005810 infectious mononucleosis skos:exactMatch MEDGEN:7069 semapv:UnspecifiedMatching MONDO:0005810 infectious mononucleosis skos:exactMatch NCIT:C34726 Infectious Mononucleosis semapv:UnspecifiedMatching MONDO:0005810 infectious mononucleosis skos:exactMatch SCTID:186668002 semapv:UnspecifiedMatching MONDO:0005810 infectious mononucleosis skos:exactMatch UMLS:C0021345 semapv:UnspecifiedMatching MONDO:0005810 infectious mononucleosis skos:exactMatch icd11.foundation:760139952 Infectious mononucleosis semapv:UnspecifiedMatching MONDO:0005810 infectious mononucleosis skos:exactMatch mesh:D007244 semapv:UnspecifiedMatching MONDO:0005811 infectious myxomatosis skos:exactMatch mesh:D009234 semapv:UnspecifiedMatching MONDO:0005812 influenza skos:exactMatch DOID:8469 influenza semapv:UnspecifiedMatching MONDO:0005812 influenza skos:exactMatch EFO:0007328 semapv:UnspecifiedMatching MONDO:0005812 influenza skos:exactMatch MEDGEN:9466 semapv:UnspecifiedMatching MONDO:0005812 influenza skos:exactMatch NCIT:C53482 Influenza semapv:UnspecifiedMatching MONDO:0005812 influenza skos:exactMatch SCTID:61700007 semapv:UnspecifiedMatching MONDO:0005812 influenza skos:exactMatch UMLS:C0021400 semapv:UnspecifiedMatching MONDO:0005812 influenza skos:exactMatch icd11.foundation:145723401 Influenza semapv:UnspecifiedMatching MONDO:0005812 influenza skos:exactMatch mesh:D007251 semapv:UnspecifiedMatching MONDO:0005812 influenza skos:exactMatch mesh:D009976 semapv:UnspecifiedMatching MONDO:0005813 interdigitating dendritic cell sarcoma skos:exactMatch DOID:7848 interdigitating dendritic cell sarcoma semapv:UnspecifiedMatching MONDO:0005813 interdigitating dendritic cell sarcoma skos:exactMatch EFO:0007329 semapv:UnspecifiedMatching MONDO:0005813 interdigitating dendritic cell sarcoma skos:exactMatch MEDGEN:266040 semapv:UnspecifiedMatching MONDO:0005813 interdigitating dendritic cell sarcoma skos:exactMatch NCIT:C9282 Interdigitating Dendritic Cell Sarcoma semapv:UnspecifiedMatching MONDO:0005813 interdigitating dendritic cell sarcoma skos:exactMatch SCTID:715664005 semapv:UnspecifiedMatching MONDO:0005813 interdigitating dendritic cell sarcoma skos:exactMatch UMLS:C1260326 semapv:UnspecifiedMatching MONDO:0005813 interdigitating dendritic cell sarcoma skos:exactMatch icd11.foundation:2024362257 semapv:UnspecifiedMatching MONDO:0005813 interdigitating dendritic cell sarcoma skos:exactMatch icd11.foundation:214592620 Interdigitating dendritic cell sarcoma semapv:UnspecifiedMatching MONDO:0005813 interdigitating dendritic cell sarcoma skos:exactMatch mesh:D054739 semapv:UnspecifiedMatching MONDO:0005814 intestinal cancer skos:exactMatch DOID:10155 intestinal cancer semapv:UnspecifiedMatching MONDO:0005814 intestinal cancer skos:exactMatch EFO:0007330 semapv:UnspecifiedMatching MONDO:0005814 intestinal cancer skos:exactMatch MEDGEN:87562 semapv:UnspecifiedMatching MONDO:0005814 intestinal cancer skos:exactMatch NCIT:C4572 Malignant Intestinal Neoplasm semapv:UnspecifiedMatching MONDO:0005814 intestinal cancer skos:exactMatch SCTID:363508008 semapv:UnspecifiedMatching MONDO:0005814 intestinal cancer skos:exactMatch UMLS:C0346627 semapv:UnspecifiedMatching MONDO:0005814 intestinal cancer skos:exactMatch icd11.foundation:150210507 Malignant neoplasms of intestine semapv:UnspecifiedMatching MONDO:0005814 intestinal cancer skos:exactMatch mesh:D007414 semapv:UnspecifiedMatching MONDO:0005815 pancreatic neuroendocrine neoplasm skos:exactMatch DOID:1799 islet cell tumor semapv:UnspecifiedMatching MONDO:0005815 pancreatic neuroendocrine neoplasm skos:exactMatch EFO:0007331 semapv:UnspecifiedMatching MONDO:0005815 pancreatic neuroendocrine neoplasm skos:exactMatch MEDGEN:1848937 semapv:UnspecifiedMatching MONDO:0005815 pancreatic neuroendocrine neoplasm skos:exactMatch NCIT:C27031 Pancreatic Neuroendocrine Neoplasm semapv:UnspecifiedMatching MONDO:0005815 pancreatic neuroendocrine neoplasm skos:exactMatch Orphanet:506052 Neuroendocrine neoplasm of pancreas semapv:UnspecifiedMatching MONDO:0005815 pancreatic neuroendocrine neoplasm skos:exactMatch SCTID:254611009 semapv:UnspecifiedMatching MONDO:0005815 pancreatic neuroendocrine neoplasm skos:exactMatch UMLS:C5848399 semapv:UnspecifiedMatching MONDO:0005815 pancreatic neuroendocrine neoplasm skos:exactMatch icd11.foundation:1421495979 Neuroendocrine neoplasms of pancreas semapv:UnspecifiedMatching MONDO:0005817 Kluver-Bucy syndrome skos:exactMatch DOID:2510 Kluver-Bucy syndrome semapv:UnspecifiedMatching MONDO:0005817 Kluver-Bucy syndrome skos:exactMatch EFO:0007335 semapv:UnspecifiedMatching MONDO:0005817 Kluver-Bucy syndrome skos:exactMatch MEDGEN:124361 semapv:UnspecifiedMatching MONDO:0005817 Kluver-Bucy syndrome skos:exactMatch NCIT:C84802 Kluver-Bucy Syndrome semapv:UnspecifiedMatching MONDO:0005817 Kluver-Bucy syndrome skos:exactMatch Orphanet:157823 Klüver-Bucy syndrome semapv:UnspecifiedMatching MONDO:0005817 Kluver-Bucy syndrome skos:exactMatch SCTID:10651001 semapv:UnspecifiedMatching MONDO:0005817 Kluver-Bucy syndrome skos:exactMatch UMLS:C0270707 semapv:UnspecifiedMatching MONDO:0005817 Kluver-Bucy syndrome skos:exactMatch mesh:D020232 semapv:UnspecifiedMatching MONDO:0005819 laryngeal tuberculosis skos:exactMatch DOID:1583 laryngeal tuberculosis semapv:UnspecifiedMatching MONDO:0005819 laryngeal tuberculosis skos:exactMatch EFO:0007337 semapv:UnspecifiedMatching MONDO:0005819 laryngeal tuberculosis skos:exactMatch MEDGEN:11945 semapv:UnspecifiedMatching MONDO:0005819 laryngeal tuberculosis skos:exactMatch NCIT:C26895 Tuberculous Laryngitis semapv:UnspecifiedMatching MONDO:0005819 laryngeal tuberculosis skos:exactMatch SCTID:70341005 semapv:UnspecifiedMatching MONDO:0005819 laryngeal tuberculosis skos:exactMatch UMLS:C0041315 semapv:UnspecifiedMatching MONDO:0005819 laryngeal tuberculosis skos:exactMatch mesh:D014387 semapv:UnspecifiedMatching MONDO:0005820 Lassa fever skos:exactMatch DOID:9537 Lassa fever semapv:UnspecifiedMatching MONDO:0005820 Lassa fever skos:exactMatch EFO:0007338 semapv:UnspecifiedMatching MONDO:0005820 Lassa fever skos:exactMatch ICD10CM:A96.2 Lassa fever semapv:UnspecifiedMatching MONDO:0005820 Lassa fever skos:exactMatch MEDGEN:7276 semapv:UnspecifiedMatching MONDO:0005820 Lassa fever skos:exactMatch NCIT:C128418 Lassa Fever semapv:UnspecifiedMatching MONDO:0005820 Lassa fever skos:exactMatch Orphanet:99824 Lassa fever semapv:UnspecifiedMatching MONDO:0005820 Lassa fever skos:exactMatch SCTID:19065005 semapv:UnspecifiedMatching MONDO:0005820 Lassa fever skos:exactMatch UMLS:C0023092 semapv:UnspecifiedMatching MONDO:0005820 Lassa fever skos:exactMatch icd11.foundation:515020316 Lassa fever semapv:UnspecifiedMatching MONDO:0005820 Lassa fever skos:exactMatch mesh:D007835 semapv:UnspecifiedMatching MONDO:0005821 late congenital syphilis skos:exactMatch DOID:10039 late congenital syphilis semapv:UnspecifiedMatching MONDO:0005821 late congenital syphilis skos:exactMatch MEDGEN:640497 semapv:UnspecifiedMatching MONDO:0005821 late congenital syphilis skos:exactMatch SCTID:82323002 semapv:UnspecifiedMatching MONDO:0005821 late congenital syphilis skos:exactMatch UMLS:C0554634 semapv:UnspecifiedMatching MONDO:0005821 late congenital syphilis skos:exactMatch icd11.foundation:1685932952 Late congenital syphilis semapv:UnspecifiedMatching MONDO:0005822 latent syphilis skos:exactMatch DOID:9531 latent syphilis semapv:UnspecifiedMatching MONDO:0005822 latent syphilis skos:exactMatch EFO:0007340 semapv:UnspecifiedMatching MONDO:0005822 latent syphilis skos:exactMatch MEDGEN:21056 semapv:UnspecifiedMatching MONDO:0005822 latent syphilis skos:exactMatch NCIT:C35056 Latent Syphilis semapv:UnspecifiedMatching MONDO:0005822 latent syphilis skos:exactMatch SCTID:444150000 semapv:UnspecifiedMatching MONDO:0005822 latent syphilis skos:exactMatch UMLS:C0039133 semapv:UnspecifiedMatching MONDO:0005822 latent syphilis skos:exactMatch mesh:D013592 semapv:UnspecifiedMatching MONDO:0005823 legionellosis skos:exactMatch DOID:10458 legionellosis semapv:UnspecifiedMatching MONDO:0005823 legionellosis skos:exactMatch EFO:0007342 semapv:UnspecifiedMatching MONDO:0005823 legionellosis skos:exactMatch MEDGEN:7292 semapv:UnspecifiedMatching MONDO:0005823 legionellosis skos:exactMatch NCIT:C128334 Legionellosis semapv:UnspecifiedMatching MONDO:0005823 legionellosis skos:exactMatch Orphanet:600832 Legionella infection semapv:UnspecifiedMatching MONDO:0005823 legionellosis skos:exactMatch SCTID:26726000 semapv:UnspecifiedMatching MONDO:0005823 legionellosis skos:exactMatch UMLS:C0023240 semapv:UnspecifiedMatching MONDO:0005823 legionellosis skos:exactMatch icd11.foundation:390042715 Legionellosis semapv:UnspecifiedMatching MONDO:0005823 legionellosis skos:exactMatch mesh:D007876 semapv:UnspecifiedMatching MONDO:0005824 Legionnaires' disease skos:exactMatch DOID:10457 Legionnaires' disease semapv:UnspecifiedMatching MONDO:0005824 Legionnaires' disease skos:exactMatch EFO:0007343 semapv:UnspecifiedMatching MONDO:0005824 Legionnaires' disease skos:exactMatch ICD10CM:A48.1 Legionnaires' disease semapv:UnspecifiedMatching MONDO:0005824 Legionnaires' disease skos:exactMatch MEDGEN:9705 semapv:UnspecifiedMatching MONDO:0005824 Legionnaires' disease skos:exactMatch NCIT:C128339 Legionella Pneumonia semapv:UnspecifiedMatching MONDO:0005824 Legionnaires' disease skos:exactMatch Orphanet:549 Legionnaires disease semapv:UnspecifiedMatching MONDO:0005824 Legionnaires' disease skos:exactMatch SCTID:195889001 semapv:UnspecifiedMatching MONDO:0005824 Legionnaires' disease skos:exactMatch UMLS:C0023241 semapv:UnspecifiedMatching MONDO:0005824 Legionnaires' disease skos:exactMatch icd11.foundation:424434722 Legionnaires disease semapv:UnspecifiedMatching MONDO:0005824 Legionnaires' disease skos:exactMatch mesh:D007877 semapv:UnspecifiedMatching MONDO:0005825 leptospirosis skos:exactMatch DOID:2297 leptospirosis semapv:UnspecifiedMatching MONDO:0005825 leptospirosis skos:exactMatch EFO:0007344 semapv:UnspecifiedMatching MONDO:0005825 leptospirosis skos:exactMatch ICD10CM:A27 Leptospirosis semapv:UnspecifiedMatching MONDO:0005825 leptospirosis skos:exactMatch ICD10WHO:A27 Leptospirosis semapv:UnspecifiedMatching MONDO:0005825 leptospirosis skos:exactMatch MEDGEN:7309 semapv:UnspecifiedMatching MONDO:0005825 leptospirosis skos:exactMatch NCIT:C84825 Leptospirosis semapv:UnspecifiedMatching MONDO:0005825 leptospirosis skos:exactMatch Orphanet:509 Leptospirosis semapv:UnspecifiedMatching MONDO:0005825 leptospirosis skos:exactMatch SCTID:77377001 semapv:UnspecifiedMatching MONDO:0005825 leptospirosis skos:exactMatch UMLS:C0023364 semapv:UnspecifiedMatching MONDO:0005825 leptospirosis skos:exactMatch icd11.foundation:751399056 Leptospirosis semapv:UnspecifiedMatching MONDO:0005825 leptospirosis skos:exactMatch mesh:D007922 semapv:UnspecifiedMatching MONDO:0005826 lipid pneumonia skos:exactMatch DOID:3241 lipid pneumonia semapv:UnspecifiedMatching MONDO:0005826 lipid pneumonia skos:exactMatch EFO:0007345 semapv:UnspecifiedMatching MONDO:0005826 lipid pneumonia skos:exactMatch MEDGEN:19362 semapv:UnspecifiedMatching MONDO:0005826 lipid pneumonia skos:exactMatch SCTID:707449006 semapv:UnspecifiedMatching MONDO:0005826 lipid pneumonia skos:exactMatch UMLS:C0032298 semapv:UnspecifiedMatching MONDO:0005826 lipid pneumonia skos:exactMatch mesh:D011017 semapv:UnspecifiedMatching MONDO:0005827 lipoatrophic diabetes skos:exactMatch DOID:11712 lipoatrophic diabetes mellitus semapv:UnspecifiedMatching MONDO:0005827 lipoatrophic diabetes skos:exactMatch EFO:0007346 semapv:UnspecifiedMatching MONDO:0005827 lipoatrophic diabetes skos:exactMatch MEDGEN:4256 semapv:UnspecifiedMatching MONDO:0005827 lipoatrophic diabetes skos:exactMatch NCIT:C34537 Lipoatrophic Diabetes Mellitus semapv:UnspecifiedMatching MONDO:0005827 lipoatrophic diabetes skos:exactMatch SCTID:127012008 semapv:UnspecifiedMatching MONDO:0005827 lipoatrophic diabetes skos:exactMatch UMLS:C0011859 semapv:UnspecifiedMatching MONDO:0005827 lipoatrophic diabetes skos:exactMatch mesh:D003923 semapv:UnspecifiedMatching MONDO:0005828 listeriosis skos:exactMatch DOID:11573 listeriosis semapv:UnspecifiedMatching MONDO:0005828 listeriosis skos:exactMatch EFO:0007347 semapv:UnspecifiedMatching MONDO:0005828 listeriosis skos:exactMatch ICD10CM:A32 Listeriosis semapv:UnspecifiedMatching MONDO:0005828 listeriosis skos:exactMatch ICD10WHO:A32 Listeriosis semapv:UnspecifiedMatching MONDO:0005828 listeriosis skos:exactMatch MEDGEN:9788 semapv:UnspecifiedMatching MONDO:0005828 listeriosis skos:exactMatch NCIT:C82994 Listeriosis semapv:UnspecifiedMatching MONDO:0005828 listeriosis skos:exactMatch Orphanet:533 Listeriosis semapv:UnspecifiedMatching MONDO:0005828 listeriosis skos:exactMatch UMLS:C0023860 semapv:UnspecifiedMatching MONDO:0005828 listeriosis skos:exactMatch icd11.foundation:419706488 Listeriosis semapv:UnspecifiedMatching MONDO:0005828 listeriosis skos:exactMatch mesh:D008088 semapv:UnspecifiedMatching MONDO:0005829 louping ill skos:exactMatch DOID:10250 louping ill semapv:UnspecifiedMatching MONDO:0005829 louping ill skos:exactMatch mesh:D008146 semapv:UnspecifiedMatching MONDO:0005830 lumpy skin disease skos:exactMatch EFO:0007349 semapv:UnspecifiedMatching MONDO:0005830 lumpy skin disease skos:exactMatch MEDGEN:9815 semapv:UnspecifiedMatching MONDO:0005830 lumpy skin disease skos:exactMatch UMLS:C0024106 semapv:UnspecifiedMatching MONDO:0005830 lumpy skin disease skos:exactMatch mesh:D008166 semapv:UnspecifiedMatching MONDO:0005831 lymph node tuberculosis skos:exactMatch DOID:4889 lymph node tuberculosis semapv:UnspecifiedMatching MONDO:0005831 lymph node tuberculosis skos:exactMatch EFO:0007350 semapv:UnspecifiedMatching MONDO:0005831 lymph node tuberculosis skos:exactMatch ICD10CM:A18.2 Tuberculous peripheral lymphadenopathy semapv:UnspecifiedMatching MONDO:0005831 lymph node tuberculosis skos:exactMatch MEDGEN:11946 semapv:UnspecifiedMatching MONDO:0005831 lymph node tuberculosis skos:exactMatch NCIT:C26896 Lymph Node Tuberculosis semapv:UnspecifiedMatching MONDO:0005831 lymph node tuberculosis skos:exactMatch SCTID:10893003 semapv:UnspecifiedMatching MONDO:0005831 lymph node tuberculosis skos:exactMatch UMLS:C0041316 semapv:UnspecifiedMatching MONDO:0005831 lymph node tuberculosis skos:exactMatch mesh:D014388 semapv:UnspecifiedMatching MONDO:0005832 lymphangitis skos:exactMatch DOID:9317 lymphangitis semapv:UnspecifiedMatching MONDO:0005832 lymphangitis skos:exactMatch EFO:0007351 semapv:UnspecifiedMatching MONDO:0005832 lymphangitis skos:exactMatch ICD10CM:I89.1 Lymphangitis semapv:UnspecifiedMatching MONDO:0005832 lymphangitis skos:exactMatch MEDGEN:7412 semapv:UnspecifiedMatching MONDO:0005832 lymphangitis skos:exactMatch NCIT:C34790 Lymphangitis semapv:UnspecifiedMatching MONDO:0005832 lymphangitis skos:exactMatch SCTID:1415005 semapv:UnspecifiedMatching MONDO:0005832 lymphangitis skos:exactMatch UMLS:C0024225 semapv:UnspecifiedMatching MONDO:0005832 lymphangitis skos:exactMatch icd11.foundation:1548743622 Lymphangitis semapv:UnspecifiedMatching MONDO:0005832 lymphangitis skos:exactMatch mesh:D008205 semapv:UnspecifiedMatching MONDO:0005833 lymphatic system disorder skos:exactMatch DOID:75 lymphatic system disease semapv:UnspecifiedMatching MONDO:0005833 lymphatic system disorder skos:exactMatch EFO:0007352 semapv:UnspecifiedMatching MONDO:0005833 lymphatic system disorder skos:exactMatch MEDGEN:892707 semapv:UnspecifiedMatching MONDO:0005833 lymphatic system disorder skos:exactMatch NCIT:C50764 Lymphadenopathy semapv:UnspecifiedMatching MONDO:0005833 lymphatic system disorder skos:exactMatch SCTID:362971004 semapv:UnspecifiedMatching MONDO:0005833 lymphatic system disorder skos:exactMatch UMLS:C4021976 semapv:UnspecifiedMatching MONDO:0005833 lymphatic system disorder skos:exactMatch mesh:D008206 semapv:UnspecifiedMatching MONDO:0005834 lymphogranuloma venereum skos:exactMatch DOID:13819 lymphogranuloma venereum semapv:UnspecifiedMatching MONDO:0005834 lymphogranuloma venereum skos:exactMatch EFO:0007353 semapv:UnspecifiedMatching MONDO:0005834 lymphogranuloma venereum skos:exactMatch ICD10CM:A55 Chlamydial lymphogranuloma (venereum) semapv:UnspecifiedMatching MONDO:0005834 lymphogranuloma venereum skos:exactMatch MEDGEN:44221 semapv:UnspecifiedMatching MONDO:0005834 lymphogranuloma venereum skos:exactMatch NCIT:C26822 Lymphogranuloma Venereum semapv:UnspecifiedMatching MONDO:0005834 lymphogranuloma venereum skos:exactMatch SCTID:186946009 semapv:UnspecifiedMatching MONDO:0005834 lymphogranuloma venereum skos:exactMatch UMLS:C0024286 semapv:UnspecifiedMatching MONDO:0005834 lymphogranuloma venereum skos:exactMatch mesh:D008219 semapv:UnspecifiedMatching MONDO:0005835 Lynch syndrome skos:exactMatch DOID:3883 Lynch syndrome semapv:UnspecifiedMatching MONDO:0005835 Lynch syndrome skos:exactMatch MEDGEN:1633554 semapv:UnspecifiedMatching MONDO:0005835 Lynch syndrome skos:exactMatch NCIT:C8494 Lynch Syndrome semapv:UnspecifiedMatching MONDO:0005835 Lynch syndrome skos:exactMatch Orphanet:144 Lynch syndrome semapv:UnspecifiedMatching MONDO:0005835 Lynch syndrome skos:exactMatch SCTID:716318002 semapv:UnspecifiedMatching MONDO:0005835 Lynch syndrome skos:exactMatch UMLS:C4552100 semapv:UnspecifiedMatching MONDO:0005836 male reproductive organ cancer skos:exactMatch DOID:3856 male reproductive organ cancer semapv:UnspecifiedMatching MONDO:0005836 male reproductive organ cancer skos:exactMatch EFO:0007355 semapv:UnspecifiedMatching MONDO:0005836 male reproductive organ cancer skos:exactMatch MEDGEN:102279 semapv:UnspecifiedMatching MONDO:0005836 male reproductive organ cancer skos:exactMatch NCIT:C8561 Malignant Male Reproductive System Neoplasm semapv:UnspecifiedMatching MONDO:0005836 male reproductive organ cancer skos:exactMatch SCTID:363515000 semapv:UnspecifiedMatching MONDO:0005836 male reproductive organ cancer skos:exactMatch UMLS:C0153606 semapv:UnspecifiedMatching MONDO:0005836 male reproductive organ cancer skos:exactMatch mesh:D005834 semapv:UnspecifiedMatching MONDO:0005837 mandibular cancer skos:exactMatch DOID:2338 mandibular cancer semapv:UnspecifiedMatching MONDO:0005837 mandibular cancer skos:exactMatch EFO:0007356 semapv:UnspecifiedMatching MONDO:0005837 mandibular cancer skos:exactMatch ICD10CM:C41.1 Malignant neoplasm of mandible semapv:UnspecifiedMatching MONDO:0005837 mandibular cancer skos:exactMatch MEDGEN:57788 semapv:UnspecifiedMatching MONDO:0005837 mandibular cancer skos:exactMatch NCIT:C35178 Malignant Mandible Neoplasm semapv:UnspecifiedMatching MONDO:0005837 mandibular cancer skos:exactMatch SCTID:448668007 semapv:UnspecifiedMatching MONDO:0005837 mandibular cancer skos:exactMatch UMLS:C0153511 semapv:UnspecifiedMatching MONDO:0005837 mandibular cancer skos:exactMatch mesh:D008339 semapv:UnspecifiedMatching MONDO:0005838 mansonelliasis skos:exactMatch DOID:1081 mansonelliasis semapv:UnspecifiedMatching MONDO:0005838 mansonelliasis skos:exactMatch DOID:14422 dipetalonemiasis semapv:UnspecifiedMatching MONDO:0005838 mansonelliasis skos:exactMatch EFO:0007357 semapv:UnspecifiedMatching MONDO:0005838 mansonelliasis skos:exactMatch ICD10CM:B74.4 Mansonelliasis semapv:UnspecifiedMatching MONDO:0005838 mansonelliasis skos:exactMatch MEDGEN:6213 semapv:UnspecifiedMatching MONDO:0005838 mansonelliasis skos:exactMatch NCIT:C34540 Dipetalonemiasis semapv:UnspecifiedMatching MONDO:0005838 mansonelliasis skos:exactMatch NCIT:C84882 Mansonelliasis semapv:UnspecifiedMatching MONDO:0005838 mansonelliasis skos:exactMatch Orphanet:2459 Mansonelliasis semapv:UnspecifiedMatching MONDO:0005838 mansonelliasis skos:exactMatch SCTID:15629006 semapv:UnspecifiedMatching MONDO:0005838 mansonelliasis skos:exactMatch SCTID:240849009 semapv:UnspecifiedMatching MONDO:0005838 mansonelliasis skos:exactMatch UMLS:C0024759 semapv:UnspecifiedMatching MONDO:0005838 mansonelliasis skos:exactMatch icd11.foundation:1504434405 Mansonelliasis semapv:UnspecifiedMatching MONDO:0005838 mansonelliasis skos:exactMatch mesh:D004154 semapv:UnspecifiedMatching MONDO:0005838 mansonelliasis skos:exactMatch mesh:D008368 semapv:UnspecifiedMatching MONDO:0005841 maxillary neoplasm skos:exactMatch DOID:4618 maxillary cancer semapv:UnspecifiedMatching MONDO:0005841 maxillary neoplasm skos:exactMatch EFO:0007360 semapv:UnspecifiedMatching MONDO:0005841 maxillary neoplasm skos:exactMatch MEDGEN:44312 semapv:UnspecifiedMatching MONDO:0005841 maxillary neoplasm skos:exactMatch SCTID:126550004 semapv:UnspecifiedMatching MONDO:0005841 maxillary neoplasm skos:exactMatch UMLS:C0024954 semapv:UnspecifiedMatching MONDO:0005841 maxillary neoplasm skos:exactMatch mesh:D008441 semapv:UnspecifiedMatching MONDO:0005842 maxillary sinusitis skos:exactMatch DOID:2051 maxillary sinusitis semapv:UnspecifiedMatching MONDO:0005842 maxillary sinusitis skos:exactMatch EFO:0007361 semapv:UnspecifiedMatching MONDO:0005842 maxillary sinusitis skos:exactMatch MEDGEN:44313 semapv:UnspecifiedMatching MONDO:0005842 maxillary sinusitis skos:exactMatch NCIT:C34809 Maxillary Sinusitis semapv:UnspecifiedMatching MONDO:0005842 maxillary sinusitis skos:exactMatch SCTID:88348008 semapv:UnspecifiedMatching MONDO:0005842 maxillary sinusitis skos:exactMatch UMLS:C0024959 semapv:UnspecifiedMatching MONDO:0005842 maxillary sinusitis skos:exactMatch mesh:D015523 semapv:UnspecifiedMatching MONDO:0005843 mediastinal cancer skos:exactMatch DOID:5559 mediastinal cancer semapv:UnspecifiedMatching MONDO:0005843 mediastinal cancer skos:exactMatch EFO:0007362 semapv:UnspecifiedMatching MONDO:0005843 mediastinal cancer skos:exactMatch MEDGEN:56308 semapv:UnspecifiedMatching MONDO:0005843 mediastinal cancer skos:exactMatch NCIT:C3549 Malignant Mediastinal Neoplasm semapv:UnspecifiedMatching MONDO:0005843 mediastinal cancer skos:exactMatch SCTID:363494000 semapv:UnspecifiedMatching MONDO:0005843 mediastinal cancer skos:exactMatch UMLS:C0153504 semapv:UnspecifiedMatching MONDO:0005843 mediastinal cancer skos:exactMatch mesh:D008479 semapv:UnspecifiedMatching MONDO:0005844 chalazion skos:exactMatch DOID:9903 meibomian cyst semapv:UnspecifiedMatching MONDO:0005844 chalazion skos:exactMatch EFO:0007363 semapv:UnspecifiedMatching MONDO:0005844 chalazion skos:exactMatch ICD10CM:H00.1 Chalazion semapv:UnspecifiedMatching MONDO:0005844 chalazion skos:exactMatch MEDGEN:869 semapv:UnspecifiedMatching MONDO:0005844 chalazion skos:exactMatch NCIT:C26717 Chalazion semapv:UnspecifiedMatching MONDO:0005844 chalazion skos:exactMatch SCTID:1482004 semapv:UnspecifiedMatching MONDO:0005844 chalazion skos:exactMatch UMLS:C0007933 semapv:UnspecifiedMatching MONDO:0005844 chalazion skos:exactMatch icd11.foundation:777918741 Chalazion semapv:UnspecifiedMatching MONDO:0005844 chalazion skos:exactMatch mesh:D017043 semapv:UnspecifiedMatching MONDO:0005845 meningoencephalitis skos:exactMatch DOID:10554 meningoencephalitis semapv:UnspecifiedMatching MONDO:0005845 meningoencephalitis skos:exactMatch EFO:0007364 semapv:UnspecifiedMatching MONDO:0005845 meningoencephalitis skos:exactMatch MEDGEN:6301 semapv:UnspecifiedMatching MONDO:0005845 meningoencephalitis skos:exactMatch NCIT:C34813 Meningoencephalitis semapv:UnspecifiedMatching MONDO:0005845 meningoencephalitis skos:exactMatch SCTID:7125002 semapv:UnspecifiedMatching MONDO:0005845 meningoencephalitis skos:exactMatch UMLS:C0025309 semapv:UnspecifiedMatching MONDO:0005845 meningoencephalitis skos:exactMatch mesh:D008590 semapv:UnspecifiedMatching MONDO:0005846 microsporidiosis skos:exactMatch DOID:4271 microsporidiosis semapv:UnspecifiedMatching MONDO:0005846 microsporidiosis skos:exactMatch EFO:0007366 semapv:UnspecifiedMatching MONDO:0005846 microsporidiosis skos:exactMatch MEDGEN:39278 semapv:UnspecifiedMatching MONDO:0005846 microsporidiosis skos:exactMatch NCIT:C84891 Microsporidiosis semapv:UnspecifiedMatching MONDO:0005846 microsporidiosis skos:exactMatch Orphanet:2552 Microsporidiosis semapv:UnspecifiedMatching MONDO:0005846 microsporidiosis skos:exactMatch SCTID:699676006 semapv:UnspecifiedMatching MONDO:0005846 microsporidiosis skos:exactMatch UMLS:C0085407 semapv:UnspecifiedMatching MONDO:0005846 microsporidiosis skos:exactMatch icd11.foundation:1021483422 Microsporidiosis semapv:UnspecifiedMatching MONDO:0005846 microsporidiosis skos:exactMatch mesh:D016881 semapv:UnspecifiedMatching MONDO:0005847 middle lobe syndrome skos:exactMatch DOID:2810 middle lobe syndrome semapv:UnspecifiedMatching MONDO:0005847 middle lobe syndrome skos:exactMatch EFO:0007367 semapv:UnspecifiedMatching MONDO:0005847 middle lobe syndrome skos:exactMatch MEDGEN:6393 semapv:UnspecifiedMatching MONDO:0005847 middle lobe syndrome skos:exactMatch SCTID:28295001 semapv:UnspecifiedMatching MONDO:0005847 middle lobe syndrome skos:exactMatch UMLS:C0026069 semapv:UnspecifiedMatching MONDO:0005847 middle lobe syndrome skos:exactMatch mesh:D008878 semapv:UnspecifiedMatching MONDO:0005848 miliary tuberculosis skos:exactMatch DOID:9861 miliary tuberculosis semapv:UnspecifiedMatching MONDO:0005848 miliary tuberculosis skos:exactMatch EFO:0007368 semapv:UnspecifiedMatching MONDO:0005848 miliary tuberculosis skos:exactMatch ICD10CM:A19 Miliary tuberculosis semapv:UnspecifiedMatching MONDO:0005848 miliary tuberculosis skos:exactMatch ICD10WHO:A19 Miliary tuberculosis semapv:UnspecifiedMatching MONDO:0005848 miliary tuberculosis skos:exactMatch MEDGEN:21726 semapv:UnspecifiedMatching MONDO:0005848 miliary tuberculosis skos:exactMatch NCIT:C35086 Miliary Tuberculosis semapv:UnspecifiedMatching MONDO:0005848 miliary tuberculosis skos:exactMatch SCTID:47604008 semapv:UnspecifiedMatching MONDO:0005848 miliary tuberculosis skos:exactMatch UMLS:C0041321 semapv:UnspecifiedMatching MONDO:0005848 miliary tuberculosis skos:exactMatch icd11.foundation:861638547 Miliary tuberculosis semapv:UnspecifiedMatching MONDO:0005848 miliary tuberculosis skos:exactMatch mesh:D014391 semapv:UnspecifiedMatching MONDO:0005849 obsolete milk allergic reaction skos:exactMatch DOID:4376 milk allergy semapv:UnspecifiedMatching MONDO:0005849 obsolete milk allergic reaction skos:exactMatch mesh:D016269 semapv:UnspecifiedMatching MONDO:0005850 milker's nodule skos:exactMatch DOID:8729 milker's nodule semapv:UnspecifiedMatching MONDO:0005850 milker's nodule skos:exactMatch MEDGEN:44449 semapv:UnspecifiedMatching MONDO:0005850 milker's nodule skos:exactMatch SCTID:27240009 semapv:UnspecifiedMatching MONDO:0005850 milker's nodule skos:exactMatch UMLS:C0026143 semapv:UnspecifiedMatching MONDO:0005850 milker's nodule skos:exactMatch mesh:D011213 semapv:UnspecifiedMatching MONDO:0005851 Miller Fisher syndrome skos:exactMatch DOID:12889 Miller Fisher syndrome semapv:UnspecifiedMatching MONDO:0005851 Miller Fisher syndrome skos:exactMatch EFO:0007371 semapv:UnspecifiedMatching MONDO:0005851 Miller Fisher syndrome skos:exactMatch MEDGEN:95994 semapv:UnspecifiedMatching MONDO:0005851 Miller Fisher syndrome skos:exactMatch NCIT:C116958 Miller Fisher Syndrome semapv:UnspecifiedMatching MONDO:0005851 Miller Fisher syndrome skos:exactMatch Orphanet:98919 Miller Fisher syndrome semapv:UnspecifiedMatching MONDO:0005851 Miller Fisher syndrome skos:exactMatch SCTID:1767005 semapv:UnspecifiedMatching MONDO:0005851 Miller Fisher syndrome skos:exactMatch UMLS:C0393799 semapv:UnspecifiedMatching MONDO:0005851 Miller Fisher syndrome skos:exactMatch icd11.foundation:134795253 Miller Fisher syndrome semapv:UnspecifiedMatching MONDO:0005851 Miller Fisher syndrome skos:exactMatch mesh:D019846 semapv:UnspecifiedMatching MONDO:0005852 mitral valve stenosis skos:exactMatch DOID:1754 mitral valve stenosis semapv:UnspecifiedMatching MONDO:0005852 mitral valve stenosis skos:exactMatch EFO:0007372 semapv:UnspecifiedMatching MONDO:0005852 mitral valve stenosis skos:exactMatch MEDGEN:44466 semapv:UnspecifiedMatching MONDO:0005852 mitral valve stenosis skos:exactMatch NCIT:C50654 Mitral Valve Stenosis semapv:UnspecifiedMatching MONDO:0005852 mitral valve stenosis skos:exactMatch SCTID:79619009 semapv:UnspecifiedMatching MONDO:0005852 mitral valve stenosis skos:exactMatch UMLS:C0026269 semapv:UnspecifiedMatching MONDO:0005852 mitral valve stenosis skos:exactMatch icd11.foundation:2115139779 Mitral valve stenosis semapv:UnspecifiedMatching MONDO:0005852 mitral valve stenosis skos:exactMatch mesh:D008946 semapv:UnspecifiedMatching MONDO:0005853 malignant mixed neoplasm skos:exactMatch DOID:154 mixed cell type cancer semapv:UnspecifiedMatching MONDO:0005853 malignant mixed neoplasm skos:exactMatch EFO:1000356 semapv:UnspecifiedMatching MONDO:0005853 malignant mixed neoplasm skos:exactMatch MEDGEN:64618 semapv:UnspecifiedMatching MONDO:0005853 malignant mixed neoplasm skos:exactMatch NCIT:C3729 Malignant Mixed Neoplasm semapv:UnspecifiedMatching MONDO:0005853 malignant mixed neoplasm skos:exactMatch UMLS:C0206625 semapv:UnspecifiedMatching MONDO:0005853 malignant mixed neoplasm skos:exactMatch mesh:D018198 semapv:UnspecifiedMatching MONDO:0005854 mixed connective tissue disease skos:exactMatch DOID:3492 mixed connective tissue disease semapv:UnspecifiedMatching MONDO:0005854 mixed connective tissue disease skos:exactMatch EFO:0007374 semapv:UnspecifiedMatching MONDO:0005854 mixed connective tissue disease skos:exactMatch MEDGEN:10069 semapv:UnspecifiedMatching MONDO:0005854 mixed connective tissue disease skos:exactMatch NCIT:C84892 Mixed Connective Tissue Disease semapv:UnspecifiedMatching MONDO:0005854 mixed connective tissue disease skos:exactMatch Orphanet:809 Mixed connective tissue disease semapv:UnspecifiedMatching MONDO:0005854 mixed connective tissue disease skos:exactMatch SCTID:398049005 semapv:UnspecifiedMatching MONDO:0005854 mixed connective tissue disease skos:exactMatch UMLS:C0026272 semapv:UnspecifiedMatching MONDO:0005854 mixed connective tissue disease skos:exactMatch icd11.foundation:891652224 Mixed connective tissue disease semapv:UnspecifiedMatching MONDO:0005854 mixed connective tissue disease skos:exactMatch mesh:D008947 semapv:UnspecifiedMatching MONDO:0005855 molluscum contagiosum skos:exactMatch DOID:8867 molluscum contagiosum semapv:UnspecifiedMatching MONDO:0005855 molluscum contagiosum skos:exactMatch EFO:0007375 semapv:UnspecifiedMatching MONDO:0005855 molluscum contagiosum skos:exactMatch ICD10CM:B08.1 Molluscum contagiosum semapv:UnspecifiedMatching MONDO:0005855 molluscum contagiosum skos:exactMatch MEDGEN:10081 semapv:UnspecifiedMatching MONDO:0005855 molluscum contagiosum skos:exactMatch SCTID:40070004 semapv:UnspecifiedMatching MONDO:0005855 molluscum contagiosum skos:exactMatch UMLS:C0026393 semapv:UnspecifiedMatching MONDO:0005855 molluscum contagiosum skos:exactMatch icd11.foundation:82201615 Molluscum contagiosum semapv:UnspecifiedMatching MONDO:0005855 molluscum contagiosum skos:exactMatch mesh:D008976 semapv:UnspecifiedMatching MONDO:0005856 Mononegavirales infectious disease skos:exactMatch MEDGEN:67005 semapv:UnspecifiedMatching MONDO:0005856 Mononegavirales infectious disease skos:exactMatch UMLS:C0242916 semapv:UnspecifiedMatching MONDO:0005856 Mononegavirales infectious disease skos:exactMatch mesh:D018701 semapv:UnspecifiedMatching MONDO:0005857 morbillivirus infectious disease skos:exactMatch EFO:0007377 semapv:UnspecifiedMatching MONDO:0005857 morbillivirus infectious disease skos:exactMatch MEDGEN:61642 semapv:UnspecifiedMatching MONDO:0005857 morbillivirus infectious disease skos:exactMatch UMLS:C0206614 semapv:UnspecifiedMatching MONDO:0005857 morbillivirus infectious disease skos:exactMatch mesh:D018185 semapv:UnspecifiedMatching MONDO:0005858 mucinous cystadenocarcinoma skos:exactMatch DOID:3603 mucinous cystadenocarcinoma semapv:UnspecifiedMatching MONDO:0005858 mucinous cystadenocarcinoma skos:exactMatch EFO:0007378 semapv:UnspecifiedMatching MONDO:0005858 mucinous cystadenocarcinoma skos:exactMatch MEDGEN:60211 semapv:UnspecifiedMatching MONDO:0005858 mucinous cystadenocarcinoma skos:exactMatch NCIT:C3776 Mucinous Cystadenocarcinoma semapv:UnspecifiedMatching MONDO:0005858 mucinous cystadenocarcinoma skos:exactMatch UMLS:C0206699 semapv:UnspecifiedMatching MONDO:0005858 mucinous cystadenocarcinoma skos:exactMatch mesh:D018282 semapv:UnspecifiedMatching MONDO:0005859 mucocutaneous leishmaniasis skos:exactMatch DOID:9155 mucocutaneous leishmaniasis semapv:UnspecifiedMatching MONDO:0005859 mucocutaneous leishmaniasis skos:exactMatch EFO:0007379 semapv:UnspecifiedMatching MONDO:0005859 mucocutaneous leishmaniasis skos:exactMatch ICD10CM:B55.2 Mucocutaneous leishmaniasis semapv:UnspecifiedMatching MONDO:0005859 mucocutaneous leishmaniasis skos:exactMatch MEDGEN:233065 semapv:UnspecifiedMatching MONDO:0005859 mucocutaneous leishmaniasis skos:exactMatch NCIT:C34769 American Cutaneous Leishmaniasis semapv:UnspecifiedMatching MONDO:0005859 mucocutaneous leishmaniasis skos:exactMatch UMLS:C1328252 semapv:UnspecifiedMatching MONDO:0005859 mucocutaneous leishmaniasis skos:exactMatch icd11.foundation:1942095878 Mucocutaneous leishmaniasis semapv:UnspecifiedMatching MONDO:0005859 mucocutaneous leishmaniasis skos:exactMatch mesh:D007897 semapv:UnspecifiedMatching MONDO:0005861 multidrug-resistant tuberculosis skos:exactMatch DOID:401 multidrug-resistant tuberculosis semapv:UnspecifiedMatching MONDO:0005861 multidrug-resistant tuberculosis skos:exactMatch EFO:0007381 semapv:UnspecifiedMatching MONDO:0005861 multidrug-resistant tuberculosis skos:exactMatch MEDGEN:60163 semapv:UnspecifiedMatching MONDO:0005861 multidrug-resistant tuberculosis skos:exactMatch NCIT:C128415 Multidrug-Resistant Tuberculosis semapv:UnspecifiedMatching MONDO:0005861 multidrug-resistant tuberculosis skos:exactMatch SCTID:423092005 semapv:UnspecifiedMatching MONDO:0005861 multidrug-resistant tuberculosis skos:exactMatch UMLS:C0206526 semapv:UnspecifiedMatching MONDO:0005861 multidrug-resistant tuberculosis skos:exactMatch mesh:D018088 semapv:UnspecifiedMatching MONDO:0005862 obsolete multiple chemical sensitivity skos:exactMatch DOID:4661 multiple chemical sensitivity semapv:UnspecifiedMatching MONDO:0005862 obsolete multiple chemical sensitivity skos:exactMatch SCTID:702772003 semapv:UnspecifiedMatching MONDO:0005862 obsolete multiple chemical sensitivity skos:exactMatch mesh:D018777 semapv:UnspecifiedMatching MONDO:0005864 muscle cancer skos:exactMatch DOID:4045 muscle cancer semapv:UnspecifiedMatching MONDO:0005864 muscle cancer skos:exactMatch EFO:0007384 semapv:UnspecifiedMatching MONDO:0005864 muscle cancer skos:exactMatch MEDGEN:151927 semapv:UnspecifiedMatching MONDO:0005864 muscle cancer skos:exactMatch NCIT:C4883 Malignant Muscle Neoplasm semapv:UnspecifiedMatching MONDO:0005864 muscle cancer skos:exactMatch SCTID:363495004 semapv:UnspecifiedMatching MONDO:0005864 muscle cancer skos:exactMatch UMLS:C0684743 semapv:UnspecifiedMatching MONDO:0005865 mushroom workers' lung skos:exactMatch DOID:2708 mushroom workers' lung semapv:UnspecifiedMatching MONDO:0005865 mushroom workers' lung skos:exactMatch MEDGEN:102344 semapv:UnspecifiedMatching MONDO:0005865 mushroom workers' lung skos:exactMatch SCTID:52333004 semapv:UnspecifiedMatching MONDO:0005865 mushroom workers' lung skos:exactMatch UMLS:C0155889 semapv:UnspecifiedMatching MONDO:0005866 Mycobacterium avium complex disease skos:exactMatch DOID:2755 Mycobacterium avium complex disease semapv:UnspecifiedMatching MONDO:0005866 Mycobacterium avium complex disease skos:exactMatch EFO:0007386 semapv:UnspecifiedMatching MONDO:0005866 Mycobacterium avium complex disease skos:exactMatch MEDGEN:6478 semapv:UnspecifiedMatching MONDO:0005866 Mycobacterium avium complex disease skos:exactMatch NCIT:C36197 Mycobacterium Avium Infection semapv:UnspecifiedMatching MONDO:0005866 Mycobacterium avium complex disease skos:exactMatch SCTID:373436002 semapv:UnspecifiedMatching MONDO:0005866 Mycobacterium avium complex disease skos:exactMatch UMLS:C0026916 semapv:UnspecifiedMatching MONDO:0005866 Mycobacterium avium complex disease skos:exactMatch mesh:D015270 semapv:UnspecifiedMatching MONDO:0005867 Mycoplasma pneumoniae pneumonia skos:exactMatch DOID:13276 Mycoplasma pneumoniae pneumonia semapv:UnspecifiedMatching MONDO:0005867 Mycoplasma pneumoniae pneumonia skos:exactMatch EFO:0007387 semapv:UnspecifiedMatching MONDO:0005867 Mycoplasma pneumoniae pneumonia skos:exactMatch ICD10CM:J15.7 Pneumonia due to Mycoplasma pneumoniae semapv:UnspecifiedMatching MONDO:0005867 Mycoplasma pneumoniae pneumonia skos:exactMatch MEDGEN:19363 semapv:UnspecifiedMatching MONDO:0005867 Mycoplasma pneumoniae pneumonia skos:exactMatch NCIT:C122526 Mycoplasmal Pneumonia semapv:UnspecifiedMatching MONDO:0005867 Mycoplasma pneumoniae pneumonia skos:exactMatch SCTID:46970008 semapv:UnspecifiedMatching MONDO:0005867 Mycoplasma pneumoniae pneumonia skos:exactMatch UMLS:C0032302 semapv:UnspecifiedMatching MONDO:0005867 Mycoplasma pneumoniae pneumonia skos:exactMatch mesh:D011019 semapv:UnspecifiedMatching MONDO:0005868 myelophthisic anemia skos:exactMatch DOID:2354 myelophthisic anemia semapv:UnspecifiedMatching MONDO:0005868 myelophthisic anemia skos:exactMatch EFO:0007388 semapv:UnspecifiedMatching MONDO:0005868 myelophthisic anemia skos:exactMatch ICD10CM:D61.82 Myelophthisis semapv:UnspecifiedMatching MONDO:0005868 myelophthisic anemia skos:exactMatch MEDGEN:1529 semapv:UnspecifiedMatching MONDO:0005868 myelophthisic anemia skos:exactMatch SCTID:2694001 semapv:UnspecifiedMatching MONDO:0005868 myelophthisic anemia skos:exactMatch UMLS:C0002890 semapv:UnspecifiedMatching MONDO:0005868 myelophthisic anemia skos:exactMatch mesh:D000750 semapv:UnspecifiedMatching MONDO:0005870 necatoriasis skos:exactMatch DOID:2790 necatoriasis semapv:UnspecifiedMatching MONDO:0005870 necatoriasis skos:exactMatch EFO:0007390 semapv:UnspecifiedMatching MONDO:0005870 necatoriasis skos:exactMatch ICD10CM:B76.1 Necatoriasis semapv:UnspecifiedMatching MONDO:0005870 necatoriasis skos:exactMatch MEDGEN:10277 semapv:UnspecifiedMatching MONDO:0005870 necatoriasis skos:exactMatch NCIT:C34838 Necatoriasis semapv:UnspecifiedMatching MONDO:0005870 necatoriasis skos:exactMatch SCTID:36667009 semapv:UnspecifiedMatching MONDO:0005870 necatoriasis skos:exactMatch UMLS:C0027528 semapv:UnspecifiedMatching MONDO:0005870 necatoriasis skos:exactMatch icd11.foundation:652000933 Necatoriasis semapv:UnspecifiedMatching MONDO:0005870 necatoriasis skos:exactMatch mesh:D009332 semapv:UnspecifiedMatching MONDO:0005871 Nematoda infectious disease skos:exactMatch EFO:0007391 semapv:UnspecifiedMatching MONDO:0005871 Nematoda infectious disease skos:exactMatch MEDGEN:45025 semapv:UnspecifiedMatching MONDO:0005871 Nematoda infectious disease skos:exactMatch SCTID:84706005 semapv:UnspecifiedMatching MONDO:0005871 Nematoda infectious disease skos:exactMatch UMLS:C0027583 semapv:UnspecifiedMatching MONDO:0005871 Nematoda infectious disease skos:exactMatch mesh:D009349 semapv:UnspecifiedMatching MONDO:0005872 nervous system cancer skos:exactMatch DOID:3093 nervous system cancer semapv:UnspecifiedMatching MONDO:0005872 nervous system cancer skos:exactMatch EFO:0007392 semapv:UnspecifiedMatching MONDO:0005872 nervous system cancer skos:exactMatch MEDGEN:99231 semapv:UnspecifiedMatching MONDO:0005872 nervous system cancer skos:exactMatch NCIT:C4788 Malignant Nervous System Neoplasm semapv:UnspecifiedMatching MONDO:0005872 nervous system cancer skos:exactMatch SCTID:372063002 semapv:UnspecifiedMatching MONDO:0005872 nervous system cancer skos:exactMatch UMLS:C0497549 semapv:UnspecifiedMatching MONDO:0005872 nervous system cancer skos:exactMatch mesh:D009423 semapv:UnspecifiedMatching MONDO:0005873 neuroaspergillosis skos:exactMatch DOID:13565 neuroaspergillosis semapv:UnspecifiedMatching MONDO:0005873 neuroaspergillosis skos:exactMatch MEDGEN:199873 semapv:UnspecifiedMatching MONDO:0005873 neuroaspergillosis skos:exactMatch UMLS:C0752342 semapv:UnspecifiedMatching MONDO:0005873 neuroaspergillosis skos:exactMatch mesh:D020953 semapv:UnspecifiedMatching MONDO:0005874 neuroschistosomiasis skos:exactMatch DOID:13722 neuroschistosomiasis semapv:UnspecifiedMatching MONDO:0005874 neuroschistosomiasis skos:exactMatch EFO:0007394 semapv:UnspecifiedMatching MONDO:0005874 neuroschistosomiasis skos:exactMatch MEDGEN:155718 semapv:UnspecifiedMatching MONDO:0005874 neuroschistosomiasis skos:exactMatch UMLS:C0752191 semapv:UnspecifiedMatching MONDO:0005874 neuroschistosomiasis skos:exactMatch icd11.foundation:446216876 Neuroschistosomiasis semapv:UnspecifiedMatching MONDO:0005874 neuroschistosomiasis skos:exactMatch mesh:D020818 semapv:UnspecifiedMatching MONDO:0005875 Newcastle disease skos:exactMatch DOID:2929 Newcastle disease semapv:UnspecifiedMatching MONDO:0005875 Newcastle disease skos:exactMatch EFO:0007395 semapv:UnspecifiedMatching MONDO:0005875 Newcastle disease skos:exactMatch MEDGEN:10339 semapv:UnspecifiedMatching MONDO:0005875 Newcastle disease skos:exactMatch NCIT:C34849 Newcastle Disease semapv:UnspecifiedMatching MONDO:0005875 Newcastle disease skos:exactMatch UMLS:C0027983 semapv:UnspecifiedMatching MONDO:0005875 Newcastle disease skos:exactMatch mesh:D009521 semapv:UnspecifiedMatching MONDO:0005876 Nidovirales infectious disease skos:exactMatch MEDGEN:197455 semapv:UnspecifiedMatching MONDO:0005876 Nidovirales infectious disease skos:exactMatch UMLS:C0969753 semapv:UnspecifiedMatching MONDO:0005876 Nidovirales infectious disease skos:exactMatch mesh:D030341 semapv:UnspecifiedMatching MONDO:0005878 ocular onchocerciasis skos:exactMatch EFO:0007398 semapv:UnspecifiedMatching MONDO:0005878 ocular onchocerciasis skos:exactMatch MEDGEN:45196 semapv:UnspecifiedMatching MONDO:0005878 ocular onchocerciasis skos:exactMatch NCIT:C34862 Ocular Onchocerciasis semapv:UnspecifiedMatching MONDO:0005878 ocular onchocerciasis skos:exactMatch SCTID:240842000 semapv:UnspecifiedMatching MONDO:0005878 ocular onchocerciasis skos:exactMatch UMLS:C0029002 semapv:UnspecifiedMatching MONDO:0005878 ocular onchocerciasis skos:exactMatch mesh:D015827 semapv:UnspecifiedMatching MONDO:0005879 ocular toxoplasmosis skos:exactMatch EFO:0007399 semapv:UnspecifiedMatching MONDO:0005879 ocular toxoplasmosis skos:exactMatch MEDGEN:21599 semapv:UnspecifiedMatching MONDO:0005879 ocular toxoplasmosis skos:exactMatch SCTID:416481006 semapv:UnspecifiedMatching MONDO:0005879 ocular toxoplasmosis skos:exactMatch UMLS:C0040561 semapv:UnspecifiedMatching MONDO:0005879 ocular toxoplasmosis skos:exactMatch mesh:D014126 semapv:UnspecifiedMatching MONDO:0005880 oesophagostomiasis skos:exactMatch DOID:3983 oesophagostomiasis semapv:UnspecifiedMatching MONDO:0005880 oesophagostomiasis skos:exactMatch MEDGEN:18151 semapv:UnspecifiedMatching MONDO:0005880 oesophagostomiasis skos:exactMatch SCTID:22500005 semapv:UnspecifiedMatching MONDO:0005880 oesophagostomiasis skos:exactMatch UMLS:C0028887 semapv:UnspecifiedMatching MONDO:0005880 oesophagostomiasis skos:exactMatch icd11.foundation:1664841973 Oesophagostomiasis semapv:UnspecifiedMatching MONDO:0005880 oesophagostomiasis skos:exactMatch mesh:D009814 semapv:UnspecifiedMatching MONDO:0005881 oligohydramnios skos:exactMatch DOID:12215 oligohydramnios semapv:UnspecifiedMatching MONDO:0005881 oligohydramnios skos:exactMatch EFO:0007401 semapv:UnspecifiedMatching MONDO:0005881 oligohydramnios skos:exactMatch ICD10CM:O41.0 Oligohydramnios semapv:UnspecifiedMatching MONDO:0005881 oligohydramnios skos:exactMatch MEDGEN:86974 semapv:UnspecifiedMatching MONDO:0005881 oligohydramnios skos:exactMatch SCTID:59566000 semapv:UnspecifiedMatching MONDO:0005881 oligohydramnios skos:exactMatch UMLS:C0079924 semapv:UnspecifiedMatching MONDO:0005881 oligohydramnios skos:exactMatch icd11.foundation:262953341 Oligohydramnios semapv:UnspecifiedMatching MONDO:0005881 oligohydramnios skos:exactMatch mesh:D016104 semapv:UnspecifiedMatching MONDO:0005883 ophthalmic herpes zoster skos:exactMatch EFO:0007403 semapv:UnspecifiedMatching MONDO:0005883 ophthalmic herpes zoster skos:exactMatch MEDGEN:9236 semapv:UnspecifiedMatching MONDO:0005883 ophthalmic herpes zoster skos:exactMatch SCTID:87513003 semapv:UnspecifiedMatching MONDO:0005883 ophthalmic herpes zoster skos:exactMatch UMLS:C0019364 semapv:UnspecifiedMatching MONDO:0005883 ophthalmic herpes zoster skos:exactMatch mesh:D006563 semapv:UnspecifiedMatching MONDO:0005884 opisthorchiasis skos:exactMatch DOID:13768 opisthorchiasis semapv:UnspecifiedMatching MONDO:0005884 opisthorchiasis skos:exactMatch EFO:0007404 semapv:UnspecifiedMatching MONDO:0005884 opisthorchiasis skos:exactMatch ICD10CM:B66.0 Opisthorchiasis semapv:UnspecifiedMatching MONDO:0005884 opisthorchiasis skos:exactMatch MEDGEN:10453 semapv:UnspecifiedMatching MONDO:0005884 opisthorchiasis skos:exactMatch SCTID:1059007 semapv:UnspecifiedMatching MONDO:0005884 opisthorchiasis skos:exactMatch UMLS:C0029106 semapv:UnspecifiedMatching MONDO:0005884 opisthorchiasis skos:exactMatch icd11.foundation:1401769984 Opisthorchiasis semapv:UnspecifiedMatching MONDO:0005884 opisthorchiasis skos:exactMatch mesh:D009889 semapv:UnspecifiedMatching MONDO:0005885 optic neuritis skos:exactMatch DOID:1210 optic neuritis semapv:UnspecifiedMatching MONDO:0005885 optic neuritis skos:exactMatch EFO:0007405 semapv:UnspecifiedMatching MONDO:0005885 optic neuritis skos:exactMatch ICD10CM:H46 Optic neuritis semapv:UnspecifiedMatching MONDO:0005885 optic neuritis skos:exactMatch ICD10WHO:H46 Optic neuritis semapv:UnspecifiedMatching MONDO:0005885 optic neuritis skos:exactMatch MEDGEN:18181 semapv:UnspecifiedMatching MONDO:0005885 optic neuritis skos:exactMatch NCIT:C84950 Optic Neuritis semapv:UnspecifiedMatching MONDO:0005885 optic neuritis skos:exactMatch SCTID:66760008 semapv:UnspecifiedMatching MONDO:0005885 optic neuritis skos:exactMatch UMLS:C0029134 semapv:UnspecifiedMatching MONDO:0005885 optic neuritis skos:exactMatch icd11.foundation:210935787 Optic neuritis semapv:UnspecifiedMatching MONDO:0005885 optic neuritis skos:exactMatch mesh:D009902 semapv:UnspecifiedMatching MONDO:0005886 oral candidiasis skos:exactMatch DOID:14262 oral candidiasis semapv:UnspecifiedMatching MONDO:0005886 oral candidiasis skos:exactMatch EFO:0007406 semapv:UnspecifiedMatching MONDO:0005886 oral candidiasis skos:exactMatch MEDGEN:14300 semapv:UnspecifiedMatching MONDO:0005886 oral candidiasis skos:exactMatch NCIT:C28137 Oral Candidiasis semapv:UnspecifiedMatching MONDO:0005886 oral candidiasis skos:exactMatch SCTID:79740000 semapv:UnspecifiedMatching MONDO:0005886 oral candidiasis skos:exactMatch UMLS:C0006849 semapv:UnspecifiedMatching MONDO:0005886 oral candidiasis skos:exactMatch mesh:D002180 semapv:UnspecifiedMatching MONDO:0005887 oral tuberculosis skos:exactMatch DOID:402 oral tuberculosis semapv:UnspecifiedMatching MONDO:0005887 oral tuberculosis skos:exactMatch MEDGEN:52888 semapv:UnspecifiedMatching MONDO:0005887 oral tuberculosis skos:exactMatch SCTID:235067001 semapv:UnspecifiedMatching MONDO:0005887 oral tuberculosis skos:exactMatch UMLS:C0041323 semapv:UnspecifiedMatching MONDO:0005887 oral tuberculosis skos:exactMatch mesh:D014393 semapv:UnspecifiedMatching MONDO:0005888 ornithosis skos:exactMatch DOID:11262 ornithosis semapv:UnspecifiedMatching MONDO:0005888 ornithosis skos:exactMatch EFO:0007410 semapv:UnspecifiedMatching MONDO:0005888 ornithosis skos:exactMatch ICD10CM:A70 Chlamydia psittaci infections semapv:UnspecifiedMatching MONDO:0005888 ornithosis skos:exactMatch MEDGEN:18198 semapv:UnspecifiedMatching MONDO:0005888 ornithosis skos:exactMatch NCIT:C34873 Ornithosis semapv:UnspecifiedMatching MONDO:0005888 ornithosis skos:exactMatch Orphanet:660053 Psittacosis semapv:UnspecifiedMatching MONDO:0005888 ornithosis skos:exactMatch SCTID:75116005 semapv:UnspecifiedMatching MONDO:0005888 ornithosis skos:exactMatch UMLS:C0029291 semapv:UnspecifiedMatching MONDO:0005888 ornithosis skos:exactMatch mesh:D009956 semapv:UnspecifiedMatching MONDO:0005890 osteitis fibrosa skos:exactMatch DOID:3341 osteitis fibrosa semapv:UnspecifiedMatching MONDO:0005890 osteitis fibrosa skos:exactMatch EFO:0007413 semapv:UnspecifiedMatching MONDO:0005890 osteitis fibrosa skos:exactMatch MEDGEN:14529 semapv:UnspecifiedMatching MONDO:0005890 osteitis fibrosa skos:exactMatch NCIT:C34875 Osteitis Fibrosa Cystica semapv:UnspecifiedMatching MONDO:0005890 osteitis fibrosa skos:exactMatch SCTID:84727000 semapv:UnspecifiedMatching MONDO:0005890 osteitis fibrosa skos:exactMatch UMLS:C0029405 semapv:UnspecifiedMatching MONDO:0005890 osteitis fibrosa skos:exactMatch mesh:D010002 semapv:UnspecifiedMatching MONDO:0005891 ostertagiasis skos:exactMatch DOID:3985 ostertagiasis semapv:UnspecifiedMatching MONDO:0005891 ostertagiasis skos:exactMatch EFO:0007414 semapv:UnspecifiedMatching MONDO:0005891 ostertagiasis skos:exactMatch MEDGEN:18224 semapv:UnspecifiedMatching MONDO:0005891 ostertagiasis skos:exactMatch UMLS:C0029471 semapv:UnspecifiedMatching MONDO:0005891 ostertagiasis skos:exactMatch mesh:D010029 semapv:UnspecifiedMatching MONDO:0005892 otitis media with effusion skos:exactMatch EFO:0007415 semapv:UnspecifiedMatching MONDO:0005892 otitis media with effusion skos:exactMatch MEDGEN:629314 semapv:UnspecifiedMatching MONDO:0005892 otitis media with effusion skos:exactMatch NCIT:C34886 Secretory Otitis Media semapv:UnspecifiedMatching MONDO:0005892 otitis media with effusion skos:exactMatch SCTID:78868004 semapv:UnspecifiedMatching MONDO:0005892 otitis media with effusion skos:exactMatch UMLS:C0456498 semapv:UnspecifiedMatching MONDO:0005892 otitis media with effusion skos:exactMatch mesh:D010034 semapv:UnspecifiedMatching MONDO:0005893 pancreatic endocrine carcinoma skos:exactMatch DOID:1798 pancreatic endocrine carcinoma semapv:UnspecifiedMatching MONDO:0005893 pancreatic endocrine carcinoma skos:exactMatch EFO:0007416 semapv:UnspecifiedMatching MONDO:0005893 pancreatic endocrine carcinoma skos:exactMatch ICD10CM:C25.4 Malignant neoplasm of endocrine pancreas semapv:UnspecifiedMatching MONDO:0005893 pancreatic endocrine carcinoma skos:exactMatch MEDGEN:233070 semapv:UnspecifiedMatching MONDO:0005893 pancreatic endocrine carcinoma skos:exactMatch NCIT:C3770 Pancreatic Neuroendocrine Carcinoma semapv:UnspecifiedMatching MONDO:0005893 pancreatic endocrine carcinoma skos:exactMatch Orphanet:506098 Neuroendocrine carcinoma of pancreas semapv:UnspecifiedMatching MONDO:0005893 pancreatic endocrine carcinoma skos:exactMatch SCTID:254612002 semapv:UnspecifiedMatching MONDO:0005893 pancreatic endocrine carcinoma skos:exactMatch UMLS:C1328479 semapv:UnspecifiedMatching MONDO:0005893 pancreatic endocrine carcinoma skos:exactMatch mesh:D018273 semapv:UnspecifiedMatching MONDO:0005894 paracoccidioidomycosis skos:exactMatch DOID:12662 paracoccidioidomycosis semapv:UnspecifiedMatching MONDO:0005894 paracoccidioidomycosis skos:exactMatch EFO:0007417 semapv:UnspecifiedMatching MONDO:0005894 paracoccidioidomycosis skos:exactMatch ICD10CM:B41 Paracoccidioidomycosis semapv:UnspecifiedMatching MONDO:0005894 paracoccidioidomycosis skos:exactMatch ICD10WHO:B41 Paracoccidioidomycosis semapv:UnspecifiedMatching MONDO:0005894 paracoccidioidomycosis skos:exactMatch MEDGEN:14601 semapv:UnspecifiedMatching MONDO:0005894 paracoccidioidomycosis skos:exactMatch NCIT:C34891 Paracoccidioidomycosis semapv:UnspecifiedMatching MONDO:0005894 paracoccidioidomycosis skos:exactMatch Orphanet:73260 Paracoccidioidomycosis semapv:UnspecifiedMatching MONDO:0005894 paracoccidioidomycosis skos:exactMatch SCTID:36866003 semapv:UnspecifiedMatching MONDO:0005894 paracoccidioidomycosis skos:exactMatch UMLS:C0030409 semapv:UnspecifiedMatching MONDO:0005894 paracoccidioidomycosis skos:exactMatch icd11.foundation:268777657 Paracoccidioidomycosis semapv:UnspecifiedMatching MONDO:0005894 paracoccidioidomycosis skos:exactMatch mesh:D010229 semapv:UnspecifiedMatching MONDO:0005895 paragonimiasis skos:exactMatch DOID:10699 paragonimiasis semapv:UnspecifiedMatching MONDO:0005895 paragonimiasis skos:exactMatch EFO:0007418 semapv:UnspecifiedMatching MONDO:0005895 paragonimiasis skos:exactMatch ICD10CM:B66.4 Paragonimiasis semapv:UnspecifiedMatching MONDO:0005895 paragonimiasis skos:exactMatch MEDGEN:14603 semapv:UnspecifiedMatching MONDO:0005895 paragonimiasis skos:exactMatch NCIT:C84995 Paragonimiasis semapv:UnspecifiedMatching MONDO:0005895 paragonimiasis skos:exactMatch Orphanet:658913 Paragonimiasis semapv:UnspecifiedMatching MONDO:0005895 paragonimiasis skos:exactMatch SCTID:30369007 semapv:UnspecifiedMatching MONDO:0005895 paragonimiasis skos:exactMatch UMLS:C0030424 semapv:UnspecifiedMatching MONDO:0005895 paragonimiasis skos:exactMatch icd11.foundation:1422824299 Paragonimiasis semapv:UnspecifiedMatching MONDO:0005895 paragonimiasis skos:exactMatch mesh:D010237 semapv:UnspecifiedMatching MONDO:0005896 Paramyxoviridae infectious disease skos:exactMatch EFO:0007419 semapv:UnspecifiedMatching MONDO:0005896 Paramyxoviridae infectious disease skos:exactMatch mesh:D018184 semapv:UnspecifiedMatching MONDO:0005898 paronychia skos:exactMatch DOID:13117 paronychia semapv:UnspecifiedMatching MONDO:0005898 paronychia skos:exactMatch EFO:0007421 semapv:UnspecifiedMatching MONDO:0005898 paronychia skos:exactMatch MEDGEN:45334 semapv:UnspecifiedMatching MONDO:0005898 paronychia skos:exactMatch NCIT:C79702 Paronychia semapv:UnspecifiedMatching MONDO:0005898 paronychia skos:exactMatch SCTID:71906005 semapv:UnspecifiedMatching MONDO:0005898 paronychia skos:exactMatch UMLS:C0030578 semapv:UnspecifiedMatching MONDO:0005898 paronychia skos:exactMatch mesh:D010304 semapv:UnspecifiedMatching MONDO:0005899 parotid disorder skos:exactMatch DOID:10302 parotid disease semapv:UnspecifiedMatching MONDO:0005899 parotid disorder skos:exactMatch EFO:0007422 semapv:UnspecifiedMatching MONDO:0005899 parotid disorder skos:exactMatch MEDGEN:10593 semapv:UnspecifiedMatching MONDO:0005899 parotid disorder skos:exactMatch UMLS:C0030579 semapv:UnspecifiedMatching MONDO:0005899 parotid disorder skos:exactMatch mesh:D010305 semapv:UnspecifiedMatching MONDO:0005900 parotitis skos:exactMatch DOID:10301 parotitis semapv:UnspecifiedMatching MONDO:0005900 parotitis skos:exactMatch EFO:0007423 semapv:UnspecifiedMatching MONDO:0005900 parotitis skos:exactMatch MEDGEN:45335 semapv:UnspecifiedMatching MONDO:0005900 parotitis skos:exactMatch NCIT:C114281 Parotitis semapv:UnspecifiedMatching MONDO:0005900 parotitis skos:exactMatch SCTID:14756005 semapv:UnspecifiedMatching MONDO:0005900 parotitis skos:exactMatch UMLS:C0030583 semapv:UnspecifiedMatching MONDO:0005900 parotitis skos:exactMatch mesh:D010309 semapv:UnspecifiedMatching MONDO:0005901 pasteurellosis skos:exactMatch DOID:11055 pasteurellosis semapv:UnspecifiedMatching MONDO:0005901 pasteurellosis skos:exactMatch EFO:0007424 semapv:UnspecifiedMatching MONDO:0005901 pasteurellosis skos:exactMatch ICD10CM:A28.0 Pasteurellosis semapv:UnspecifiedMatching MONDO:0005901 pasteurellosis skos:exactMatch MEDGEN:10598 semapv:UnspecifiedMatching MONDO:0005901 pasteurellosis skos:exactMatch SCTID:83172007 semapv:UnspecifiedMatching MONDO:0005901 pasteurellosis skos:exactMatch UMLS:C0030636 semapv:UnspecifiedMatching MONDO:0005901 pasteurellosis skos:exactMatch icd11.foundation:304649065 Pasteurellosis semapv:UnspecifiedMatching MONDO:0005901 pasteurellosis skos:exactMatch mesh:D010326 semapv:UnspecifiedMatching MONDO:0005902 obsolete peanut allergic reaction skos:exactMatch DOID:4378 peanut allergy semapv:UnspecifiedMatching MONDO:0005902 obsolete peanut allergic reaction skos:exactMatch SCTID:91935009 semapv:UnspecifiedMatching MONDO:0005902 obsolete peanut allergic reaction skos:exactMatch mesh:D021183 semapv:UnspecifiedMatching MONDO:0005903 pericardial tuberculosis skos:exactMatch DOID:4962 pericardial tuberculosis semapv:UnspecifiedMatching MONDO:0005903 pericardial tuberculosis skos:exactMatch EFO:0007426 semapv:UnspecifiedMatching MONDO:0005903 pericardial tuberculosis skos:exactMatch MEDGEN:18379 semapv:UnspecifiedMatching MONDO:0005903 pericardial tuberculosis skos:exactMatch SCTID:67256000 semapv:UnspecifiedMatching MONDO:0005903 pericardial tuberculosis skos:exactMatch UMLS:C0031049 semapv:UnspecifiedMatching MONDO:0005903 pericardial tuberculosis skos:exactMatch icd11.foundation:2135325100 Tuberculosis of pericardium semapv:UnspecifiedMatching MONDO:0005903 pericardial tuberculosis skos:exactMatch mesh:D010495 semapv:UnspecifiedMatching MONDO:0005904 pericarditis skos:exactMatch DOID:1787 pericarditis semapv:UnspecifiedMatching MONDO:0005904 pericarditis skos:exactMatch EFO:0007427 semapv:UnspecifiedMatching MONDO:0005904 pericarditis skos:exactMatch MEDGEN:18377 semapv:UnspecifiedMatching MONDO:0005904 pericarditis skos:exactMatch NCIT:C34915 Pericarditis semapv:UnspecifiedMatching MONDO:0005904 pericarditis skos:exactMatch SCTID:3238004 semapv:UnspecifiedMatching MONDO:0005904 pericarditis skos:exactMatch UMLS:C0031046 semapv:UnspecifiedMatching MONDO:0005904 pericarditis skos:exactMatch icd11.foundation:1296696944 Pericarditis semapv:UnspecifiedMatching MONDO:0005904 pericarditis skos:exactMatch mesh:D010493 semapv:UnspecifiedMatching MONDO:0005905 periodic limb movement disorder skos:exactMatch DOID:9207 periodic limb movement disorder semapv:UnspecifiedMatching MONDO:0005905 periodic limb movement disorder skos:exactMatch EFO:0007428 semapv:UnspecifiedMatching MONDO:0005905 periodic limb movement disorder skos:exactMatch ICD10CM:G47.61 Periodic limb movement disorder semapv:UnspecifiedMatching MONDO:0005905 periodic limb movement disorder skos:exactMatch MEDGEN:199731 semapv:UnspecifiedMatching MONDO:0005905 periodic limb movement disorder skos:exactMatch SCTID:418763003 semapv:UnspecifiedMatching MONDO:0005905 periodic limb movement disorder skos:exactMatch UMLS:C0751774 semapv:UnspecifiedMatching MONDO:0005905 periodic limb movement disorder skos:exactMatch icd11.foundation:1846518306 Periodic limb movement disorder semapv:UnspecifiedMatching MONDO:0005906 peritonsillar abscess skos:exactMatch EFO:0007429 semapv:UnspecifiedMatching MONDO:0005906 peritonsillar abscess skos:exactMatch ICD10CM:J36 Peritonsillar abscess semapv:UnspecifiedMatching MONDO:0005906 peritonsillar abscess skos:exactMatch ICD10WHO:J36 Peritonsillar abscess semapv:UnspecifiedMatching MONDO:0005906 peritonsillar abscess skos:exactMatch MEDGEN:45819 semapv:UnspecifiedMatching MONDO:0005906 peritonsillar abscess skos:exactMatch NCIT:C128322 Peritonsillar Abscess semapv:UnspecifiedMatching MONDO:0005906 peritonsillar abscess skos:exactMatch SCTID:15033003 semapv:UnspecifiedMatching MONDO:0005906 peritonsillar abscess skos:exactMatch UMLS:C0031157 semapv:UnspecifiedMatching MONDO:0005906 peritonsillar abscess skos:exactMatch icd11.foundation:1782446047 Peritonsillar abscess semapv:UnspecifiedMatching MONDO:0005906 peritonsillar abscess skos:exactMatch mesh:D000039 semapv:UnspecifiedMatching MONDO:0005907 persian gulf syndrome skos:exactMatch DOID:4491 persian gulf syndrome semapv:UnspecifiedMatching MONDO:0005907 persian gulf syndrome skos:exactMatch EFO:0007430 semapv:UnspecifiedMatching MONDO:0005907 persian gulf syndrome skos:exactMatch MEDGEN:84396 semapv:UnspecifiedMatching MONDO:0005907 persian gulf syndrome skos:exactMatch SCTID:95877004 semapv:UnspecifiedMatching MONDO:0005907 persian gulf syndrome skos:exactMatch UMLS:C0282550 semapv:UnspecifiedMatching MONDO:0005907 persian gulf syndrome skos:exactMatch mesh:D018923 semapv:UnspecifiedMatching MONDO:0005908 peste des petits ruminants infectious disease skos:exactMatch mesh:D029021 semapv:UnspecifiedMatching MONDO:0005909 pestivirus infectious disease skos:exactMatch EFO:0007432 semapv:UnspecifiedMatching MONDO:0005909 pestivirus infectious disease skos:exactMatch MEDGEN:60191 semapv:UnspecifiedMatching MONDO:0005909 pestivirus infectious disease skos:exactMatch UMLS:C0206611 semapv:UnspecifiedMatching MONDO:0005909 pestivirus infectious disease skos:exactMatch mesh:D018182 semapv:UnspecifiedMatching MONDO:0005910 phagocyte bactericidal dysfunction skos:exactMatch DOID:3262 phagocyte bactericidal dysfunction semapv:UnspecifiedMatching MONDO:0005910 phagocyte bactericidal dysfunction skos:exactMatch EFO:0007433 semapv:UnspecifiedMatching MONDO:0005910 phagocyte bactericidal dysfunction skos:exactMatch MEDGEN:14713 semapv:UnspecifiedMatching MONDO:0005910 phagocyte bactericidal dysfunction skos:exactMatch UMLS:C0031306 semapv:UnspecifiedMatching MONDO:0005910 phagocyte bactericidal dysfunction skos:exactMatch mesh:D010585 semapv:UnspecifiedMatching MONDO:0005911 pharyngoconjunctival fever skos:exactMatch DOID:13801 pharyngoconjunctival fever semapv:UnspecifiedMatching MONDO:0005911 pharyngoconjunctival fever skos:exactMatch MEDGEN:14722 semapv:UnspecifiedMatching MONDO:0005911 pharyngoconjunctival fever skos:exactMatch NCIT:C34924 Pharyngoconjunctival Fever semapv:UnspecifiedMatching MONDO:0005911 pharyngoconjunctival fever skos:exactMatch SCTID:70385007 semapv:UnspecifiedMatching MONDO:0005911 pharyngoconjunctival fever skos:exactMatch UMLS:C0031351 semapv:UnspecifiedMatching MONDO:0005911 pharyngoconjunctival fever skos:exactMatch mesh:D000258 semapv:UnspecifiedMatching MONDO:0005912 phencyclidine abuse skos:exactMatch DOID:5062 phencyclidine abuse semapv:UnspecifiedMatching MONDO:0005912 phencyclidine abuse skos:exactMatch MEDGEN:19234 semapv:UnspecifiedMatching MONDO:0005912 phencyclidine abuse skos:exactMatch SCTID:7071007 semapv:UnspecifiedMatching MONDO:0005912 phencyclidine abuse skos:exactMatch UMLS:C0031391 semapv:UnspecifiedMatching MONDO:0005912 phencyclidine abuse skos:exactMatch mesh:D010623 semapv:UnspecifiedMatching MONDO:0005913 phlebotomus fever skos:exactMatch DOID:11360 phlebotomus fever semapv:UnspecifiedMatching MONDO:0005913 phlebotomus fever skos:exactMatch EFO:0007437 semapv:UnspecifiedMatching MONDO:0005913 phlebotomus fever skos:exactMatch ICD10CM:A93.1 Sandfly fever semapv:UnspecifiedMatching MONDO:0005913 phlebotomus fever skos:exactMatch MEDGEN:14597 semapv:UnspecifiedMatching MONDO:0005913 phlebotomus fever skos:exactMatch SCTID:407476002 semapv:UnspecifiedMatching MONDO:0005913 phlebotomus fever skos:exactMatch UMLS:C0030372 semapv:UnspecifiedMatching MONDO:0005913 phlebotomus fever skos:exactMatch mesh:D010217 semapv:UnspecifiedMatching MONDO:0005914 Picornaviridae infectious disease skos:exactMatch EFO:0007438 semapv:UnspecifiedMatching MONDO:0005914 Picornaviridae infectious disease skos:exactMatch MEDGEN:19308 semapv:UnspecifiedMatching MONDO:0005914 Picornaviridae infectious disease skos:exactMatch UMLS:C0031887 semapv:UnspecifiedMatching MONDO:0005914 Picornaviridae infectious disease skos:exactMatch mesh:D010850 semapv:UnspecifiedMatching MONDO:0005915 pityriasis versicolor skos:exactMatch DOID:9060 pityriasis versicolor semapv:UnspecifiedMatching MONDO:0005915 pityriasis versicolor skos:exactMatch EFO:0007439 semapv:UnspecifiedMatching MONDO:0005915 pityriasis versicolor skos:exactMatch ICD10CM:B36.0 Pityriasis versicolor semapv:UnspecifiedMatching MONDO:0005915 pityriasis versicolor skos:exactMatch MEDGEN:11826 semapv:UnspecifiedMatching MONDO:0005915 pityriasis versicolor skos:exactMatch NCIT:C82981 Malassezia furfur Infection semapv:UnspecifiedMatching MONDO:0005915 pityriasis versicolor skos:exactMatch SCTID:56454009 semapv:UnspecifiedMatching MONDO:0005915 pityriasis versicolor skos:exactMatch UMLS:C0040262 semapv:UnspecifiedMatching MONDO:0005915 pityriasis versicolor skos:exactMatch icd11.foundation:67108853 Pityriasis versicolor semapv:UnspecifiedMatching MONDO:0005915 pityriasis versicolor skos:exactMatch mesh:D014010 semapv:UnspecifiedMatching MONDO:0005916 placenta accreta skos:exactMatch DOID:4744 placenta accreta semapv:UnspecifiedMatching MONDO:0005916 placenta accreta skos:exactMatch EFO:0007440 semapv:UnspecifiedMatching MONDO:0005916 placenta accreta skos:exactMatch ICD10CM:O43.21 Placenta accreta semapv:UnspecifiedMatching MONDO:0005916 placenta accreta skos:exactMatch MEDGEN:10780 semapv:UnspecifiedMatching MONDO:0005916 placenta accreta skos:exactMatch NCIT:C26856 Placenta Accreta semapv:UnspecifiedMatching MONDO:0005916 placenta accreta skos:exactMatch Orphanet:662721 Placenta accreta spectrum disorder semapv:UnspecifiedMatching MONDO:0005916 placenta accreta skos:exactMatch SCTID:70129008 semapv:UnspecifiedMatching MONDO:0005916 placenta accreta skos:exactMatch UMLS:C0032044 semapv:UnspecifiedMatching MONDO:0005916 placenta accreta skos:exactMatch icd11.foundation:298160226 Placenta accreta semapv:UnspecifiedMatching MONDO:0005916 placenta accreta skos:exactMatch mesh:D010921 semapv:UnspecifiedMatching MONDO:0005917 placenta disorder skos:exactMatch DOID:780 placenta disease semapv:UnspecifiedMatching MONDO:0005917 placenta disorder skos:exactMatch EFO:0007441 semapv:UnspecifiedMatching MONDO:0005917 placenta disorder skos:exactMatch MEDGEN:10781 semapv:UnspecifiedMatching MONDO:0005917 placenta disorder skos:exactMatch NCIT:C26857 Placenta Disorder semapv:UnspecifiedMatching MONDO:0005917 placenta disorder skos:exactMatch SCTID:125586008 semapv:UnspecifiedMatching MONDO:0005917 placenta disorder skos:exactMatch UMLS:C0032045 semapv:UnspecifiedMatching MONDO:0005917 placenta disorder skos:exactMatch mesh:D010922 semapv:UnspecifiedMatching MONDO:0005918 placenta praevia skos:exactMatch DOID:11060 placenta praevia semapv:UnspecifiedMatching MONDO:0005918 placenta praevia skos:exactMatch EFO:0007442 semapv:UnspecifiedMatching MONDO:0005918 placenta praevia skos:exactMatch ICD10CM:O44 Placenta previa semapv:UnspecifiedMatching MONDO:0005918 placenta praevia skos:exactMatch ICD10WHO:O44 Placenta praevia semapv:UnspecifiedMatching MONDO:0005918 placenta praevia skos:exactMatch MEDGEN:10782 semapv:UnspecifiedMatching MONDO:0005918 placenta praevia skos:exactMatch NCIT:C26858 Placenta Previa semapv:UnspecifiedMatching MONDO:0005918 placenta praevia skos:exactMatch SCTID:36813001 semapv:UnspecifiedMatching MONDO:0005918 placenta praevia skos:exactMatch UMLS:C0032046 semapv:UnspecifiedMatching MONDO:0005918 placenta praevia skos:exactMatch mesh:D010923 semapv:UnspecifiedMatching MONDO:0005919 placental insufficiency skos:exactMatch DOID:3891 placental insufficiency semapv:UnspecifiedMatching MONDO:0005919 placental insufficiency skos:exactMatch EFO:0007443 semapv:UnspecifiedMatching MONDO:0005919 placental insufficiency skos:exactMatch MEDGEN:45942 semapv:UnspecifiedMatching MONDO:0005919 placental insufficiency skos:exactMatch Orphanet:439167 Placental insufficiency semapv:UnspecifiedMatching MONDO:0005919 placental insufficiency skos:exactMatch SCTID:237292005 semapv:UnspecifiedMatching MONDO:0005919 placental insufficiency skos:exactMatch UMLS:C0032051 semapv:UnspecifiedMatching MONDO:0005919 placental insufficiency skos:exactMatch mesh:D010927 semapv:UnspecifiedMatching MONDO:0005920 Plasmodium falciparum malaria skos:exactMatch DOID:14067 Plasmodium falciparum malaria semapv:UnspecifiedMatching MONDO:0005920 Plasmodium falciparum malaria skos:exactMatch EFO:0007444 semapv:UnspecifiedMatching MONDO:0005920 Plasmodium falciparum malaria skos:exactMatch ICD10CM:B50 Plasmodium falciparum malaria semapv:UnspecifiedMatching MONDO:0005920 Plasmodium falciparum malaria skos:exactMatch ICD10WHO:B50 Plasmodium falciparum malaria semapv:UnspecifiedMatching MONDO:0005920 Plasmodium falciparum malaria skos:exactMatch MEDGEN:6185 semapv:UnspecifiedMatching MONDO:0005920 Plasmodium falciparum malaria skos:exactMatch NCIT:C34798 Falciparum Malaria semapv:UnspecifiedMatching MONDO:0005920 Plasmodium falciparum malaria skos:exactMatch SCTID:62676009 semapv:UnspecifiedMatching MONDO:0005920 Plasmodium falciparum malaria skos:exactMatch UMLS:C0024535 semapv:UnspecifiedMatching MONDO:0005920 Plasmodium falciparum malaria skos:exactMatch mesh:D016778 semapv:UnspecifiedMatching MONDO:0005921 Plasmodium vivax malaria skos:exactMatch DOID:12978 Plasmodium vivax malaria semapv:UnspecifiedMatching MONDO:0005921 Plasmodium vivax malaria skos:exactMatch EFO:0007445 semapv:UnspecifiedMatching MONDO:0005921 Plasmodium vivax malaria skos:exactMatch ICD10CM:B51 Plasmodium vivax malaria semapv:UnspecifiedMatching MONDO:0005921 Plasmodium vivax malaria skos:exactMatch ICD10WHO:B51 Plasmodium vivax malaria semapv:UnspecifiedMatching MONDO:0005921 Plasmodium vivax malaria skos:exactMatch MEDGEN:6186 semapv:UnspecifiedMatching MONDO:0005921 Plasmodium vivax malaria skos:exactMatch NCIT:C34800 Vivax Malaria semapv:UnspecifiedMatching MONDO:0005921 Plasmodium vivax malaria skos:exactMatch SCTID:27052006 semapv:UnspecifiedMatching MONDO:0005921 Plasmodium vivax malaria skos:exactMatch UMLS:C0024537 semapv:UnspecifiedMatching MONDO:0005921 Plasmodium vivax malaria skos:exactMatch mesh:D016780 semapv:UnspecifiedMatching MONDO:0005922 pleural tuberculosis skos:exactMatch DOID:106 pleural tuberculosis semapv:UnspecifiedMatching MONDO:0005922 pleural tuberculosis skos:exactMatch EFO:0007446 semapv:UnspecifiedMatching MONDO:0005922 pleural tuberculosis skos:exactMatch ICD10CM:A15.6 Tuberculous pleurisy semapv:UnspecifiedMatching MONDO:0005922 pleural tuberculosis skos:exactMatch MEDGEN:22517 semapv:UnspecifiedMatching MONDO:0005922 pleural tuberculosis skos:exactMatch NCIT:C26898 Tuberculous Pleuritis semapv:UnspecifiedMatching MONDO:0005922 pleural tuberculosis skos:exactMatch SCTID:186172004 semapv:UnspecifiedMatching MONDO:0005922 pleural tuberculosis skos:exactMatch UMLS:C0041326 semapv:UnspecifiedMatching MONDO:0005922 pleural tuberculosis skos:exactMatch mesh:D014396 semapv:UnspecifiedMatching MONDO:0005923 Pneumocystis infectious disease skos:exactMatch EFO:0007447 semapv:UnspecifiedMatching MONDO:0005923 Pneumocystis infectious disease skos:exactMatch MEDGEN:163415 semapv:UnspecifiedMatching MONDO:0005923 Pneumocystis infectious disease skos:exactMatch UMLS:C0851886 semapv:UnspecifiedMatching MONDO:0005923 Pneumocystis infectious disease skos:exactMatch mesh:D016720 semapv:UnspecifiedMatching MONDO:0005925 pneumonic pasteurellosis skos:exactMatch EFO:0007449 semapv:UnspecifiedMatching MONDO:0005925 pneumonic pasteurellosis skos:exactMatch MEDGEN:11408 semapv:UnspecifiedMatching MONDO:0005925 pneumonic pasteurellosis skos:exactMatch UMLS:C0036969 semapv:UnspecifiedMatching MONDO:0005925 pneumonic pasteurellosis skos:exactMatch mesh:D012766 semapv:UnspecifiedMatching MONDO:0005927 polyomavirus infectious disease skos:exactMatch EFO:0007451 semapv:UnspecifiedMatching MONDO:0005927 polyomavirus infectious disease skos:exactMatch MEDGEN:215447 semapv:UnspecifiedMatching MONDO:0005927 polyomavirus infectious disease skos:exactMatch UMLS:C0949804 semapv:UnspecifiedMatching MONDO:0005927 polyomavirus infectious disease skos:exactMatch mesh:D027601 semapv:UnspecifiedMatching MONDO:0005928 post-thrombotic syndrome skos:exactMatch DOID:2364 post-thrombotic syndrome semapv:UnspecifiedMatching MONDO:0005928 post-thrombotic syndrome skos:exactMatch EFO:0007452 semapv:UnspecifiedMatching MONDO:0005928 post-thrombotic syndrome skos:exactMatch ICD10CM:I87.0 Postthrombotic syndrome semapv:UnspecifiedMatching MONDO:0005928 post-thrombotic syndrome skos:exactMatch MEDGEN:46043 semapv:UnspecifiedMatching MONDO:0005928 post-thrombotic syndrome skos:exactMatch SCTID:20427003 semapv:UnspecifiedMatching MONDO:0005928 post-thrombotic syndrome skos:exactMatch UMLS:C0032807 semapv:UnspecifiedMatching MONDO:0005928 post-thrombotic syndrome skos:exactMatch mesh:D011186 semapv:UnspecifiedMatching MONDO:0005929 postpartum depression skos:exactMatch DOID:9478 postpartum depression semapv:UnspecifiedMatching MONDO:0005929 postpartum depression skos:exactMatch EFO:0007453 semapv:UnspecifiedMatching MONDO:0005929 postpartum depression skos:exactMatch ICD10CM:F53.0 Postpartum depression semapv:UnspecifiedMatching MONDO:0005929 postpartum depression skos:exactMatch MEDGEN:66359 semapv:UnspecifiedMatching MONDO:0005929 postpartum depression skos:exactMatch NCIT:C92852 Postpartum Depression semapv:UnspecifiedMatching MONDO:0005929 postpartum depression skos:exactMatch SCTID:279225001 semapv:UnspecifiedMatching MONDO:0005929 postpartum depression skos:exactMatch UMLS:C0221074 semapv:UnspecifiedMatching MONDO:0005929 postpartum depression skos:exactMatch mesh:D019052 semapv:UnspecifiedMatching MONDO:0005932 pseudorabies skos:exactMatch EFO:0007457 semapv:UnspecifiedMatching MONDO:0005932 pseudorabies skos:exactMatch MEDGEN:18730 semapv:UnspecifiedMatching MONDO:0005932 pseudorabies skos:exactMatch UMLS:C0033839 semapv:UnspecifiedMatching MONDO:0005932 pseudorabies skos:exactMatch mesh:D011557 semapv:UnspecifiedMatching MONDO:0005933 pulmonary blastoma skos:exactMatch DOID:4765 pulmonary blastoma semapv:UnspecifiedMatching MONDO:0005933 pulmonary blastoma skos:exactMatch EFO:0007458 semapv:UnspecifiedMatching MONDO:0005933 pulmonary blastoma skos:exactMatch MEDGEN:61645 semapv:UnspecifiedMatching MONDO:0005933 pulmonary blastoma skos:exactMatch NCIT:C3732 Pulmonary Blastoma semapv:UnspecifiedMatching MONDO:0005933 pulmonary blastoma skos:exactMatch Orphanet:64741 Pulmonary blastoma semapv:UnspecifiedMatching MONDO:0005933 pulmonary blastoma skos:exactMatch SCTID:189815007 semapv:UnspecifiedMatching MONDO:0005933 pulmonary blastoma skos:exactMatch UMLS:C0206629 semapv:UnspecifiedMatching MONDO:0005933 pulmonary blastoma skos:exactMatch mesh:D018202 semapv:UnspecifiedMatching MONDO:0005936 recurrent pneumonia skos:exactMatch EFO:0007461 semapv:UnspecifiedMatching MONDO:0005936 recurrent pneumonia skos:exactMatch MEDGEN:195802 semapv:UnspecifiedMatching MONDO:0005936 recurrent pneumonia skos:exactMatch SCTID:699014000 semapv:UnspecifiedMatching MONDO:0005936 recurrent pneumonia skos:exactMatch UMLS:C0694550 semapv:UnspecifiedMatching MONDO:0005937 REM sleep behavior disorder skos:exactMatch DOID:9091 REM sleep behavior disorder semapv:UnspecifiedMatching MONDO:0005937 REM sleep behavior disorder skos:exactMatch EFO:0007462 semapv:UnspecifiedMatching MONDO:0005937 REM sleep behavior disorder skos:exactMatch ICD10CM:G47.52 REM sleep behavior disorder semapv:UnspecifiedMatching MONDO:0005937 REM sleep behavior disorder skos:exactMatch MEDGEN:199730 semapv:UnspecifiedMatching MONDO:0005937 REM sleep behavior disorder skos:exactMatch SCTID:415238003 semapv:UnspecifiedMatching MONDO:0005937 REM sleep behavior disorder skos:exactMatch UMLS:C0751772 semapv:UnspecifiedMatching MONDO:0005937 REM sleep behavior disorder skos:exactMatch mesh:D020187 semapv:UnspecifiedMatching MONDO:0005938 renal tuberculosis skos:exactMatch DOID:9733 renal tuberculosis semapv:UnspecifiedMatching MONDO:0005938 renal tuberculosis skos:exactMatch EFO:0007463 semapv:UnspecifiedMatching MONDO:0005938 renal tuberculosis skos:exactMatch MEDGEN:21728 semapv:UnspecifiedMatching MONDO:0005938 renal tuberculosis skos:exactMatch NCIT:C123020 Renal Tuberculosis semapv:UnspecifiedMatching MONDO:0005938 renal tuberculosis skos:exactMatch SCTID:44323002 semapv:UnspecifiedMatching MONDO:0005938 renal tuberculosis skos:exactMatch UMLS:C0041328 semapv:UnspecifiedMatching MONDO:0005938 renal tuberculosis skos:exactMatch mesh:D014398 semapv:UnspecifiedMatching MONDO:0005939 Reoviridae infectious disease skos:exactMatch EFO:0007464 semapv:UnspecifiedMatching MONDO:0005939 Reoviridae infectious disease skos:exactMatch MEDGEN:48410 semapv:UnspecifiedMatching MONDO:0005939 Reoviridae infectious disease skos:exactMatch UMLS:C0035112 semapv:UnspecifiedMatching MONDO:0005939 Reoviridae infectious disease skos:exactMatch mesh:D012088 semapv:UnspecifiedMatching MONDO:0005940 respirovirus infectious disease skos:exactMatch EFO:0007465 semapv:UnspecifiedMatching MONDO:0005940 respirovirus infectious disease skos:exactMatch MEDGEN:811417 semapv:UnspecifiedMatching MONDO:0005940 respirovirus infectious disease skos:exactMatch UMLS:C3714630 semapv:UnspecifiedMatching MONDO:0005940 respirovirus infectious disease skos:exactMatch mesh:D010253 semapv:UnspecifiedMatching MONDO:0005941 retroperitoneal cancer skos:exactMatch DOID:5875 retroperitoneal cancer semapv:UnspecifiedMatching MONDO:0005941 retroperitoneal cancer skos:exactMatch EFO:0007466 semapv:UnspecifiedMatching MONDO:0005941 retroperitoneal cancer skos:exactMatch MEDGEN:57559 semapv:UnspecifiedMatching MONDO:0005941 retroperitoneal cancer skos:exactMatch NCIT:C3537 Malignant Retroperitoneal Neoplasm semapv:UnspecifiedMatching MONDO:0005941 retroperitoneal cancer skos:exactMatch SCTID:126872008 semapv:UnspecifiedMatching MONDO:0005941 retroperitoneal cancer skos:exactMatch UMLS:C0153465 semapv:UnspecifiedMatching MONDO:0005941 retroperitoneal cancer skos:exactMatch icd11.foundation:1731312506 Malignant neoplasms of retroperitoneum semapv:UnspecifiedMatching MONDO:0005941 retroperitoneal cancer skos:exactMatch mesh:D012186 semapv:UnspecifiedMatching MONDO:0005942 Reye syndrome skos:exactMatch DOID:14525 Reye syndrome semapv:UnspecifiedMatching MONDO:0005942 Reye syndrome skos:exactMatch EFO:0007467 semapv:UnspecifiedMatching MONDO:0005942 Reye syndrome skos:exactMatch ICD10CM:G93.7 Reye's syndrome semapv:UnspecifiedMatching MONDO:0005942 Reye syndrome skos:exactMatch MEDGEN:19772 semapv:UnspecifiedMatching MONDO:0005942 Reye syndrome skos:exactMatch NCIT:C34983 Reye Syndrome semapv:UnspecifiedMatching MONDO:0005942 Reye syndrome skos:exactMatch Orphanet:3096 Reye syndrome semapv:UnspecifiedMatching MONDO:0005942 Reye syndrome skos:exactMatch SCTID:74351001 semapv:UnspecifiedMatching MONDO:0005942 Reye syndrome skos:exactMatch UMLS:C0035400 semapv:UnspecifiedMatching MONDO:0005942 Reye syndrome skos:exactMatch icd11.foundation:649014905 Reye syndrome semapv:UnspecifiedMatching MONDO:0005942 Reye syndrome skos:exactMatch mesh:D012202 semapv:UnspecifiedMatching MONDO:0005943 Rhabditida infectious disease skos:exactMatch MEDGEN:57950 semapv:UnspecifiedMatching MONDO:0005943 Rhabditida infectious disease skos:exactMatch UMLS:C0162631 semapv:UnspecifiedMatching MONDO:0005943 Rhabditida infectious disease skos:exactMatch mesh:D017196 semapv:UnspecifiedMatching MONDO:0005944 Rhabdoviridae infectious disease skos:exactMatch EFO:0007469 semapv:UnspecifiedMatching MONDO:0005944 Rhabdoviridae infectious disease skos:exactMatch MEDGEN:60221 semapv:UnspecifiedMatching MONDO:0005944 Rhabdoviridae infectious disease skos:exactMatch UMLS:C0206751 semapv:UnspecifiedMatching MONDO:0005944 Rhabdoviridae infectious disease skos:exactMatch mesh:D018353 semapv:UnspecifiedMatching MONDO:0005945 rhinoscleroma skos:exactMatch DOID:11336 rhinoscleroma semapv:UnspecifiedMatching MONDO:0005945 rhinoscleroma skos:exactMatch EFO:0007470 semapv:UnspecifiedMatching MONDO:0005945 rhinoscleroma skos:exactMatch MEDGEN:20569 semapv:UnspecifiedMatching MONDO:0005945 rhinoscleroma skos:exactMatch SCTID:72409005 semapv:UnspecifiedMatching MONDO:0005945 rhinoscleroma skos:exactMatch UMLS:C0035468 semapv:UnspecifiedMatching MONDO:0005945 rhinoscleroma skos:exactMatch icd11.foundation:1053615368 Rhinoscleroma semapv:UnspecifiedMatching MONDO:0005945 rhinoscleroma skos:exactMatch mesh:D012226 semapv:UnspecifiedMatching MONDO:0005946 rhinosporidiosis skos:exactMatch DOID:2409 rhinosporidiosis semapv:UnspecifiedMatching MONDO:0005946 rhinosporidiosis skos:exactMatch EFO:0007471 semapv:UnspecifiedMatching MONDO:0005946 rhinosporidiosis skos:exactMatch ICD10CM:B48.1 Rhinosporidiosis semapv:UnspecifiedMatching MONDO:0005946 rhinosporidiosis skos:exactMatch MEDGEN:48452 semapv:UnspecifiedMatching MONDO:0005946 rhinosporidiosis skos:exactMatch SCTID:18140003 semapv:UnspecifiedMatching MONDO:0005946 rhinosporidiosis skos:exactMatch UMLS:C0035469 semapv:UnspecifiedMatching MONDO:0005946 rhinosporidiosis skos:exactMatch icd11.foundation:1150206155 Rhinosporidiosis semapv:UnspecifiedMatching MONDO:0005946 rhinosporidiosis skos:exactMatch mesh:D012227 semapv:UnspecifiedMatching MONDO:0005947 rickettsial pneumonia skos:exactMatch MEDGEN:45973 semapv:UnspecifiedMatching MONDO:0005947 rickettsial pneumonia skos:exactMatch SCTID:233621003 semapv:UnspecifiedMatching MONDO:0005947 rickettsial pneumonia skos:exactMatch UMLS:C0032307 semapv:UnspecifiedMatching MONDO:0005947 rickettsial pneumonia skos:exactMatch mesh:D011022 semapv:UnspecifiedMatching MONDO:0005949 roseolovirus infectious disease skos:exactMatch EFO:0007474 semapv:UnspecifiedMatching MONDO:0005949 roseolovirus infectious disease skos:exactMatch MEDGEN:83999 semapv:UnspecifiedMatching MONDO:0005949 roseolovirus infectious disease skos:exactMatch UMLS:C0376549 semapv:UnspecifiedMatching MONDO:0005949 roseolovirus infectious disease skos:exactMatch mesh:D019349 semapv:UnspecifiedMatching MONDO:0005950 Salmonella gastroenteritis skos:exactMatch EFO:0007475 semapv:UnspecifiedMatching MONDO:0005950 Salmonella gastroenteritis skos:exactMatch MEDGEN:48541 semapv:UnspecifiedMatching MONDO:0005950 Salmonella gastroenteritis skos:exactMatch SCTID:42338000 semapv:UnspecifiedMatching MONDO:0005950 Salmonella gastroenteritis skos:exactMatch UMLS:C0036114 semapv:UnspecifiedMatching MONDO:0005950 Salmonella gastroenteritis skos:exactMatch mesh:D012478 semapv:UnspecifiedMatching MONDO:0005952 scarlet fever skos:exactMatch DOID:8596 scarlet fever semapv:UnspecifiedMatching MONDO:0005952 scarlet fever skos:exactMatch EFO:0007477 semapv:UnspecifiedMatching MONDO:0005952 scarlet fever skos:exactMatch ICD10CM:A38 Scarlet fever semapv:UnspecifiedMatching MONDO:0005952 scarlet fever skos:exactMatch ICD10WHO:A38 Scarlet fever semapv:UnspecifiedMatching MONDO:0005952 scarlet fever skos:exactMatch MEDGEN:11327 semapv:UnspecifiedMatching MONDO:0005952 scarlet fever skos:exactMatch NCIT:C94575 Scarlet Fever semapv:UnspecifiedMatching MONDO:0005952 scarlet fever skos:exactMatch Orphanet:688995 Scarlet fever semapv:UnspecifiedMatching MONDO:0005952 scarlet fever skos:exactMatch SCTID:30242009 semapv:UnspecifiedMatching MONDO:0005952 scarlet fever skos:exactMatch UMLS:C0036285 semapv:UnspecifiedMatching MONDO:0005952 scarlet fever skos:exactMatch icd11.foundation:107294155 Scarlet fever semapv:UnspecifiedMatching MONDO:0005952 scarlet fever skos:exactMatch mesh:D012541 semapv:UnspecifiedMatching MONDO:0005953 scirrhous adenocarcinoma skos:exactMatch DOID:4024 scirrhous adenocarcinoma semapv:UnspecifiedMatching MONDO:0005953 scirrhous adenocarcinoma skos:exactMatch EFO:0007478 semapv:UnspecifiedMatching MONDO:0005953 scirrhous adenocarcinoma skos:exactMatch MEDGEN:2873 semapv:UnspecifiedMatching MONDO:0005953 scirrhous adenocarcinoma skos:exactMatch NCIT:C2928 Scirrhous Adenocarcinoma semapv:UnspecifiedMatching MONDO:0005953 scirrhous adenocarcinoma skos:exactMatch UMLS:C0007135 semapv:UnspecifiedMatching MONDO:0005953 scirrhous adenocarcinoma skos:exactMatch mesh:D002293 semapv:UnspecifiedMatching MONDO:0005954 screw worm infectious disease skos:exactMatch DOID:12927 screw worm infectious disease semapv:UnspecifiedMatching MONDO:0005954 screw worm infectious disease skos:exactMatch mesh:D012610 semapv:UnspecifiedMatching MONDO:0005956 septicemic plague skos:exactMatch DOID:3481 septicemic plague semapv:UnspecifiedMatching MONDO:0005956 septicemic plague skos:exactMatch ICD10CM:A20.7 Septicemic plague semapv:UnspecifiedMatching MONDO:0005956 septicemic plague skos:exactMatch MEDGEN:56296 semapv:UnspecifiedMatching MONDO:0005956 septicemic plague skos:exactMatch SCTID:9012003 semapv:UnspecifiedMatching MONDO:0005956 septicemic plague skos:exactMatch UMLS:C0152936 semapv:UnspecifiedMatching MONDO:0005957 setariasis skos:exactMatch DOID:1079 setariasis semapv:UnspecifiedMatching MONDO:0005957 setariasis skos:exactMatch MEDGEN:11393 semapv:UnspecifiedMatching MONDO:0005957 setariasis skos:exactMatch SCTID:4414005 semapv:UnspecifiedMatching MONDO:0005957 setariasis skos:exactMatch UMLS:C0036850 semapv:UnspecifiedMatching MONDO:0005957 setariasis skos:exactMatch mesh:D012719 semapv:UnspecifiedMatching MONDO:0005959 sick building syndrome skos:exactMatch DOID:2710 sick building syndrome semapv:UnspecifiedMatching MONDO:0005959 sick building syndrome skos:exactMatch EFO:0007484 semapv:UnspecifiedMatching MONDO:0005959 sick building syndrome skos:exactMatch MEDGEN:48661 semapv:UnspecifiedMatching MONDO:0005959 sick building syndrome skos:exactMatch SCTID:19076009 semapv:UnspecifiedMatching MONDO:0005959 sick building syndrome skos:exactMatch UMLS:C0037050 semapv:UnspecifiedMatching MONDO:0005959 sick building syndrome skos:exactMatch mesh:D018877 semapv:UnspecifiedMatching MONDO:0005960 silicosis skos:exactMatch DOID:10325 silicosis semapv:UnspecifiedMatching MONDO:0005960 silicosis skos:exactMatch EFO:0007485 semapv:UnspecifiedMatching MONDO:0005960 silicosis skos:exactMatch MEDGEN:20758 semapv:UnspecifiedMatching MONDO:0005960 silicosis skos:exactMatch NCIT:C3369 Silicosis semapv:UnspecifiedMatching MONDO:0005960 silicosis skos:exactMatch SCTID:805002 semapv:UnspecifiedMatching MONDO:0005960 silicosis skos:exactMatch UMLS:C0037116 semapv:UnspecifiedMatching MONDO:0005960 silicosis skos:exactMatch mesh:D012829 semapv:UnspecifiedMatching MONDO:0005961 sinusitis skos:exactMatch DOID:0050127 sinusitis semapv:UnspecifiedMatching MONDO:0005961 sinusitis skos:exactMatch EFO:0007486 semapv:UnspecifiedMatching MONDO:0005961 sinusitis skos:exactMatch MEDGEN:20772 semapv:UnspecifiedMatching MONDO:0005961 sinusitis skos:exactMatch NCIT:C35024 Sinusitis semapv:UnspecifiedMatching MONDO:0005961 sinusitis skos:exactMatch SCTID:36971009 semapv:UnspecifiedMatching MONDO:0005961 sinusitis skos:exactMatch UMLS:C0037199 semapv:UnspecifiedMatching MONDO:0005961 sinusitis skos:exactMatch mesh:D012852 semapv:UnspecifiedMatching MONDO:0005962 skeletal tuberculosis skos:exactMatch DOID:1639 skeletal tuberculosis semapv:UnspecifiedMatching MONDO:0005962 skeletal tuberculosis skos:exactMatch EFO:0007487 semapv:UnspecifiedMatching MONDO:0005962 skeletal tuberculosis skos:exactMatch MEDGEN:21727 semapv:UnspecifiedMatching MONDO:0005962 skeletal tuberculosis skos:exactMatch SCTID:17653001 semapv:UnspecifiedMatching MONDO:0005962 skeletal tuberculosis skos:exactMatch UMLS:C0041324 semapv:UnspecifiedMatching MONDO:0005962 skeletal tuberculosis skos:exactMatch mesh:D014394 semapv:UnspecifiedMatching MONDO:0005963 sparganosis skos:exactMatch DOID:10080 sparganosis semapv:UnspecifiedMatching MONDO:0005963 sparganosis skos:exactMatch EFO:0007488 semapv:UnspecifiedMatching MONDO:0005963 sparganosis skos:exactMatch ICD10CM:B70.1 Sparganosis semapv:UnspecifiedMatching MONDO:0005963 sparganosis skos:exactMatch MEDGEN:52426 semapv:UnspecifiedMatching MONDO:0005963 sparganosis skos:exactMatch NCIT:C35030 Sparganosis semapv:UnspecifiedMatching MONDO:0005963 sparganosis skos:exactMatch SCTID:31659000 semapv:UnspecifiedMatching MONDO:0005963 sparganosis skos:exactMatch UMLS:C0037753 semapv:UnspecifiedMatching MONDO:0005963 sparganosis skos:exactMatch icd11.foundation:22873958 Sparganosis semapv:UnspecifiedMatching MONDO:0005963 sparganosis skos:exactMatch mesh:D013031 semapv:UnspecifiedMatching MONDO:0005964 sphenoid sinusitis skos:exactMatch DOID:10794 sphenoid sinusitis semapv:UnspecifiedMatching MONDO:0005964 sphenoid sinusitis skos:exactMatch EFO:0007489 semapv:UnspecifiedMatching MONDO:0005964 sphenoid sinusitis skos:exactMatch MEDGEN:11543 semapv:UnspecifiedMatching MONDO:0005964 sphenoid sinusitis skos:exactMatch NCIT:C35031 Sphenoidal Sinusitis semapv:UnspecifiedMatching MONDO:0005964 sphenoid sinusitis skos:exactMatch SCTID:13266007 semapv:UnspecifiedMatching MONDO:0005964 sphenoid sinusitis skos:exactMatch UMLS:C0037886 semapv:UnspecifiedMatching MONDO:0005964 sphenoid sinusitis skos:exactMatch mesh:D015524 semapv:UnspecifiedMatching MONDO:0005965 spinal stenosis skos:exactMatch DOID:6725 spinal stenosis semapv:UnspecifiedMatching MONDO:0005965 spinal stenosis skos:exactMatch EFO:0007490 semapv:UnspecifiedMatching MONDO:0005965 spinal stenosis skos:exactMatch ICD10CM:M48.0 Spinal stenosis semapv:UnspecifiedMatching MONDO:0005965 spinal stenosis skos:exactMatch MEDGEN:396107 semapv:UnspecifiedMatching MONDO:0005965 spinal stenosis skos:exactMatch NCIT:C177444 Spinal Stenosis semapv:UnspecifiedMatching MONDO:0005965 spinal stenosis skos:exactMatch SCTID:76107001 semapv:UnspecifiedMatching MONDO:0005965 spinal stenosis skos:exactMatch UMLS:C1861329 semapv:UnspecifiedMatching MONDO:0005965 spinal stenosis skos:exactMatch icd11.foundation:1847895828 Spinal stenosis semapv:UnspecifiedMatching MONDO:0005965 spinal stenosis skos:exactMatch mesh:D013130 semapv:UnspecifiedMatching MONDO:0005966 spleen cancer skos:exactMatch DOID:672 spleen cancer semapv:UnspecifiedMatching MONDO:0005966 spleen cancer skos:exactMatch EFO:0007491 semapv:UnspecifiedMatching MONDO:0005966 spleen cancer skos:exactMatch ICD10CM:C26.1 Malignant neoplasm of spleen semapv:UnspecifiedMatching MONDO:0005966 spleen cancer skos:exactMatch MEDGEN:102271 semapv:UnspecifiedMatching MONDO:0005966 spleen cancer skos:exactMatch NCIT:C3539 Malignant Splenic Neoplasm semapv:UnspecifiedMatching MONDO:0005966 spleen cancer skos:exactMatch SCTID:127230005 semapv:UnspecifiedMatching MONDO:0005966 spleen cancer skos:exactMatch UMLS:C0153470 semapv:UnspecifiedMatching MONDO:0005966 spleen cancer skos:exactMatch icd11.foundation:347078862 Malignant neoplasms of the spleen semapv:UnspecifiedMatching MONDO:0005966 spleen cancer skos:exactMatch mesh:D013160 semapv:UnspecifiedMatching MONDO:0005967 splenic tuberculosis skos:exactMatch DOID:9305 splenic tuberculosis semapv:UnspecifiedMatching MONDO:0005967 splenic tuberculosis skos:exactMatch MEDGEN:11949 semapv:UnspecifiedMatching MONDO:0005967 splenic tuberculosis skos:exactMatch SCTID:28399005 semapv:UnspecifiedMatching MONDO:0005967 splenic tuberculosis skos:exactMatch UMLS:C0041331 semapv:UnspecifiedMatching MONDO:0005967 splenic tuberculosis skos:exactMatch mesh:D014400 semapv:UnspecifiedMatching MONDO:0005968 sporotrichosis skos:exactMatch DOID:14484 sporotrichosis semapv:UnspecifiedMatching MONDO:0005968 sporotrichosis skos:exactMatch EFO:0007494 semapv:UnspecifiedMatching MONDO:0005968 sporotrichosis skos:exactMatch ICD10CM:B42 Sporotrichosis semapv:UnspecifiedMatching MONDO:0005968 sporotrichosis skos:exactMatch ICD10WHO:B42 Sporotrichosis semapv:UnspecifiedMatching MONDO:0005968 sporotrichosis skos:exactMatch MEDGEN:21298 semapv:UnspecifiedMatching MONDO:0005968 sporotrichosis skos:exactMatch Orphanet:826 Sporotrichosis semapv:UnspecifiedMatching MONDO:0005968 sporotrichosis skos:exactMatch SCTID:42094007 semapv:UnspecifiedMatching MONDO:0005968 sporotrichosis skos:exactMatch UMLS:C0038034 semapv:UnspecifiedMatching MONDO:0005968 sporotrichosis skos:exactMatch icd11.foundation:579570784 Sporotrichosis semapv:UnspecifiedMatching MONDO:0005968 sporotrichosis skos:exactMatch mesh:D013174 semapv:UnspecifiedMatching MONDO:0005969 st. Louis encephalitis skos:exactMatch DOID:10845 St. Louis encephalitis semapv:UnspecifiedMatching MONDO:0005969 st. Louis encephalitis skos:exactMatch EFO:0007495 semapv:UnspecifiedMatching MONDO:0005969 st. Louis encephalitis skos:exactMatch ICD10CM:A83.3 St Louis encephalitis semapv:UnspecifiedMatching MONDO:0005969 st. Louis encephalitis skos:exactMatch MEDGEN:41773 semapv:UnspecifiedMatching MONDO:0005969 st. Louis encephalitis skos:exactMatch Orphanet:83484 St. Louis encephalitis semapv:UnspecifiedMatching MONDO:0005969 st. Louis encephalitis skos:exactMatch SCTID:417607009 semapv:UnspecifiedMatching MONDO:0005969 st. Louis encephalitis skos:exactMatch UMLS:C0014060 semapv:UnspecifiedMatching MONDO:0005969 st. Louis encephalitis skos:exactMatch icd11.foundation:1306878274 St Louis encephalitis semapv:UnspecifiedMatching MONDO:0005969 st. Louis encephalitis skos:exactMatch mesh:D004674 semapv:UnspecifiedMatching MONDO:0005970 staphylococcal pneumonia skos:exactMatch EFO:0007496 semapv:UnspecifiedMatching MONDO:0005970 staphylococcal pneumonia skos:exactMatch MEDGEN:18532 semapv:UnspecifiedMatching MONDO:0005970 staphylococcal pneumonia skos:exactMatch SCTID:22754005 semapv:UnspecifiedMatching MONDO:0005970 staphylococcal pneumonia skos:exactMatch UMLS:C0032308 semapv:UnspecifiedMatching MONDO:0005970 staphylococcal pneumonia skos:exactMatch mesh:D011023 semapv:UnspecifiedMatching MONDO:0005971 staphyloenterotoxemia skos:exactMatch DOID:96 staphyloenterotoxemia semapv:UnspecifiedMatching MONDO:0005971 staphyloenterotoxemia skos:exactMatch EFO:0007497 semapv:UnspecifiedMatching MONDO:0005971 staphyloenterotoxemia skos:exactMatch MEDGEN:52482 semapv:UnspecifiedMatching MONDO:0005971 staphyloenterotoxemia skos:exactMatch NCIT:C35037 Staphylococcal Food Poisoning semapv:UnspecifiedMatching MONDO:0005971 staphyloenterotoxemia skos:exactMatch SCTID:84622004 semapv:UnspecifiedMatching MONDO:0005971 staphyloenterotoxemia skos:exactMatch UMLS:C0038159 semapv:UnspecifiedMatching MONDO:0005971 staphyloenterotoxemia skos:exactMatch mesh:D013202 semapv:UnspecifiedMatching MONDO:0005972 streptococcal pneumonia skos:exactMatch DOID:0040084 Streptococcus pneumonia semapv:UnspecifiedMatching MONDO:0005972 streptococcal pneumonia skos:exactMatch EFO:0007499 semapv:UnspecifiedMatching MONDO:0005972 streptococcal pneumonia skos:exactMatch ICD10CM:J13 Pneumonia due to Streptococcus pneumoniae semapv:UnspecifiedMatching MONDO:0005972 streptococcal pneumonia skos:exactMatch MEDGEN:57615 semapv:UnspecifiedMatching MONDO:0005972 streptococcal pneumonia skos:exactMatch SCTID:233607000 semapv:UnspecifiedMatching MONDO:0005972 streptococcal pneumonia skos:exactMatch UMLS:C0155862 semapv:UnspecifiedMatching MONDO:0005972 streptococcal pneumonia skos:exactMatch mesh:D011018 semapv:UnspecifiedMatching MONDO:0005973 Strongylida infectious disease skos:exactMatch mesh:D017206 semapv:UnspecifiedMatching MONDO:0005974 strongyloidiasis skos:exactMatch DOID:10955 strongyloidiasis semapv:UnspecifiedMatching MONDO:0005974 strongyloidiasis skos:exactMatch EFO:0007501 semapv:UnspecifiedMatching MONDO:0005974 strongyloidiasis skos:exactMatch ICD10CM:B78 Strongyloidiasis semapv:UnspecifiedMatching MONDO:0005974 strongyloidiasis skos:exactMatch ICD10WHO:B78 Strongyloidiasis semapv:UnspecifiedMatching MONDO:0005974 strongyloidiasis skos:exactMatch MEDGEN:20976 semapv:UnspecifiedMatching MONDO:0005974 strongyloidiasis skos:exactMatch NCIT:C128398 Strongyloidiasis semapv:UnspecifiedMatching MONDO:0005974 strongyloidiasis skos:exactMatch Orphanet:76 Strongyloidiasis semapv:UnspecifiedMatching MONDO:0005974 strongyloidiasis skos:exactMatch SCTID:187176005 semapv:UnspecifiedMatching MONDO:0005974 strongyloidiasis skos:exactMatch UMLS:C0038463 semapv:UnspecifiedMatching MONDO:0005974 strongyloidiasis skos:exactMatch icd11.foundation:2088326190 Strongyloidiasis semapv:UnspecifiedMatching MONDO:0005974 strongyloidiasis skos:exactMatch mesh:D013322 semapv:UnspecifiedMatching MONDO:0005975 suppurative otitis media skos:exactMatch DOID:11506 suppurative otitis media semapv:UnspecifiedMatching MONDO:0005975 suppurative otitis media skos:exactMatch EFO:0007503 semapv:UnspecifiedMatching MONDO:0005975 suppurative otitis media skos:exactMatch MEDGEN:10506 semapv:UnspecifiedMatching MONDO:0005975 suppurative otitis media skos:exactMatch SCTID:39288006 semapv:UnspecifiedMatching MONDO:0005975 suppurative otitis media skos:exactMatch UMLS:C0029888 semapv:UnspecifiedMatching MONDO:0005975 suppurative otitis media skos:exactMatch icd11.foundation:1528565412 Suppurative otitis media semapv:UnspecifiedMatching MONDO:0005975 suppurative otitis media skos:exactMatch mesh:D010035 semapv:UnspecifiedMatching MONDO:0005976 syphilis skos:exactMatch DOID:4166 syphilis semapv:UnspecifiedMatching MONDO:0005976 syphilis skos:exactMatch EFO:0007504 semapv:UnspecifiedMatching MONDO:0005976 syphilis skos:exactMatch MEDGEN:21447 semapv:UnspecifiedMatching MONDO:0005976 syphilis skos:exactMatch NCIT:C35055 Syphilis semapv:UnspecifiedMatching MONDO:0005976 syphilis skos:exactMatch SCTID:76272004 semapv:UnspecifiedMatching MONDO:0005976 syphilis skos:exactMatch UMLS:C0039128 semapv:UnspecifiedMatching MONDO:0005976 syphilis skos:exactMatch icd11.foundation:455894495 Syphilis semapv:UnspecifiedMatching MONDO:0005976 syphilis skos:exactMatch mesh:D013587 semapv:UnspecifiedMatching MONDO:0005977 tabes dorsalis skos:exactMatch DOID:10027 tabes dorsalis semapv:UnspecifiedMatching MONDO:0005977 tabes dorsalis skos:exactMatch ICD10CM:A52.11 Tabes dorsalis semapv:UnspecifiedMatching MONDO:0005977 tabes dorsalis skos:exactMatch MEDGEN:21065 semapv:UnspecifiedMatching MONDO:0005977 tabes dorsalis skos:exactMatch NCIT:C35057 Tabes Dorsalis semapv:UnspecifiedMatching MONDO:0005977 tabes dorsalis skos:exactMatch SCTID:316841006 semapv:UnspecifiedMatching MONDO:0005977 tabes dorsalis skos:exactMatch UMLS:C0039223 semapv:UnspecifiedMatching MONDO:0005977 tabes dorsalis skos:exactMatch icd11.foundation:1131342025 Tabes dorsalis semapv:UnspecifiedMatching MONDO:0005977 tabes dorsalis skos:exactMatch mesh:D013606 semapv:UnspecifiedMatching MONDO:0005978 theileriasis skos:exactMatch DOID:3733 theileriasis semapv:UnspecifiedMatching MONDO:0005978 theileriasis skos:exactMatch EFO:0007506 semapv:UnspecifiedMatching MONDO:0005978 theileriasis skos:exactMatch MEDGEN:11763 semapv:UnspecifiedMatching MONDO:0005978 theileriasis skos:exactMatch SCTID:68771000 semapv:UnspecifiedMatching MONDO:0005978 theileriasis skos:exactMatch UMLS:C0039753 semapv:UnspecifiedMatching MONDO:0005978 theileriasis skos:exactMatch mesh:D013801 semapv:UnspecifiedMatching MONDO:0005979 thoracic outlet syndrome skos:exactMatch DOID:3103 thoracic outlet syndrome semapv:UnspecifiedMatching MONDO:0005979 thoracic outlet syndrome skos:exactMatch EFO:0007507 semapv:UnspecifiedMatching MONDO:0005979 thoracic outlet syndrome skos:exactMatch MEDGEN:21158 semapv:UnspecifiedMatching MONDO:0005979 thoracic outlet syndrome skos:exactMatch NCIT:C85188 Thoracic Outlet Syndrome semapv:UnspecifiedMatching MONDO:0005979 thoracic outlet syndrome skos:exactMatch Orphanet:97330 Thoracic outlet syndrome semapv:UnspecifiedMatching MONDO:0005979 thoracic outlet syndrome skos:exactMatch SCTID:128210009 semapv:UnspecifiedMatching MONDO:0005979 thoracic outlet syndrome skos:exactMatch UMLS:C0039984 semapv:UnspecifiedMatching MONDO:0005979 thoracic outlet syndrome skos:exactMatch icd11.foundation:909280105 Thoracic outlet syndrome semapv:UnspecifiedMatching MONDO:0005979 thoracic outlet syndrome skos:exactMatch mesh:D013901 semapv:UnspecifiedMatching MONDO:0005980 tick infestation skos:exactMatch DOID:4109 tick infestation semapv:UnspecifiedMatching MONDO:0005980 tick infestation skos:exactMatch EFO:0007508 semapv:UnspecifiedMatching MONDO:0005980 tick infestation skos:exactMatch MEDGEN:21178 semapv:UnspecifiedMatching MONDO:0005980 tick infestation skos:exactMatch UMLS:C0040196 semapv:UnspecifiedMatching MONDO:0005980 tick infestation skos:exactMatch mesh:D013984 semapv:UnspecifiedMatching MONDO:0005981 tick paralysis skos:exactMatch DOID:11285 tick paralysis semapv:UnspecifiedMatching MONDO:0005981 tick paralysis skos:exactMatch EFO:0007509 semapv:UnspecifiedMatching MONDO:0005981 tick paralysis skos:exactMatch MEDGEN:52752 semapv:UnspecifiedMatching MONDO:0005981 tick paralysis skos:exactMatch SCTID:74225001 semapv:UnspecifiedMatching MONDO:0005981 tick paralysis skos:exactMatch UMLS:C0040197 semapv:UnspecifiedMatching MONDO:0005981 tick paralysis skos:exactMatch mesh:D013985 semapv:UnspecifiedMatching MONDO:0005982 tinea infection skos:exactMatch EFO:0007510 semapv:UnspecifiedMatching MONDO:0005982 tinea infection skos:exactMatch MEDGEN:52757 semapv:UnspecifiedMatching MONDO:0005982 tinea infection skos:exactMatch NCIT:C112181 Tinea Infection semapv:UnspecifiedMatching MONDO:0005982 tinea infection skos:exactMatch UMLS:C0040247 semapv:UnspecifiedMatching MONDO:0005983 tinea favosa skos:exactMatch DOID:4336 tinea favosa semapv:UnspecifiedMatching MONDO:0005983 tinea favosa skos:exactMatch MEDGEN:52758 semapv:UnspecifiedMatching MONDO:0005983 tinea favosa skos:exactMatch NCIT:C35072 Favus semapv:UnspecifiedMatching MONDO:0005983 tinea favosa skos:exactMatch SCTID:85375000 semapv:UnspecifiedMatching MONDO:0005983 tinea favosa skos:exactMatch UMLS:C0040254 semapv:UnspecifiedMatching MONDO:0005983 tinea favosa skos:exactMatch mesh:D014007 semapv:UnspecifiedMatching MONDO:0005984 tinea pedis skos:exactMatch DOID:12403 tinea pedis semapv:UnspecifiedMatching MONDO:0005984 tinea pedis skos:exactMatch EFO:0007512 semapv:UnspecifiedMatching MONDO:0005984 tinea pedis skos:exactMatch ICD10CM:B35.3 Tinea pedis semapv:UnspecifiedMatching MONDO:0005984 tinea pedis skos:exactMatch MEDGEN:52759 semapv:UnspecifiedMatching MONDO:0005984 tinea pedis skos:exactMatch SCTID:6020002 semapv:UnspecifiedMatching MONDO:0005984 tinea pedis skos:exactMatch UMLS:C0040259 semapv:UnspecifiedMatching MONDO:0005984 tinea pedis skos:exactMatch mesh:D014008 semapv:UnspecifiedMatching MONDO:0005985 Togaviridae infectious disease skos:exactMatch MEDGEN:21575 semapv:UnspecifiedMatching MONDO:0005985 Togaviridae infectious disease skos:exactMatch UMLS:C0040361 semapv:UnspecifiedMatching MONDO:0005985 Togaviridae infectious disease skos:exactMatch mesh:D014036 semapv:UnspecifiedMatching MONDO:0005986 torovirus infectious disease skos:exactMatch MEDGEN:104897 semapv:UnspecifiedMatching MONDO:0005986 torovirus infectious disease skos:exactMatch UMLS:C0206607 semapv:UnspecifiedMatching MONDO:0005986 torovirus infectious disease skos:exactMatch mesh:D018176 semapv:UnspecifiedMatching MONDO:0005987 toxascariasis skos:exactMatch DOID:3107 toxascariasis semapv:UnspecifiedMatching MONDO:0005987 toxascariasis skos:exactMatch MEDGEN:21221 semapv:UnspecifiedMatching MONDO:0005987 toxascariasis skos:exactMatch UMLS:C0040522 semapv:UnspecifiedMatching MONDO:0005987 toxascariasis skos:exactMatch mesh:D017227 semapv:UnspecifiedMatching MONDO:0005988 toxocariasis skos:exactMatch DOID:9790 toxocariasis semapv:UnspecifiedMatching MONDO:0005988 toxocariasis skos:exactMatch EFO:0007516 semapv:UnspecifiedMatching MONDO:0005988 toxocariasis skos:exactMatch MEDGEN:21596 semapv:UnspecifiedMatching MONDO:0005988 toxocariasis skos:exactMatch NCIT:C34758 Visceral Larva Migrans semapv:UnspecifiedMatching MONDO:0005988 toxocariasis skos:exactMatch NCIT:C85194 Toxocariasis semapv:UnspecifiedMatching MONDO:0005988 toxocariasis skos:exactMatch Orphanet:3343 Toxocariasis semapv:UnspecifiedMatching MONDO:0005988 toxocariasis skos:exactMatch SCTID:406619001 semapv:UnspecifiedMatching MONDO:0005988 toxocariasis skos:exactMatch UMLS:C0040553 semapv:UnspecifiedMatching MONDO:0005988 toxocariasis skos:exactMatch icd11.foundation:1794729263 Toxocariasis semapv:UnspecifiedMatching MONDO:0005988 toxocariasis skos:exactMatch mesh:D014120 semapv:UnspecifiedMatching MONDO:0005989 toxoplasmosis skos:exactMatch DOID:9965 toxoplasmosis semapv:UnspecifiedMatching MONDO:0005989 toxoplasmosis skos:exactMatch EFO:0007517 semapv:UnspecifiedMatching MONDO:0005989 toxoplasmosis skos:exactMatch ICD10CM:B58 Toxoplasmosis semapv:UnspecifiedMatching MONDO:0005989 toxoplasmosis skos:exactMatch ICD10WHO:B58 Toxoplasmosis semapv:UnspecifiedMatching MONDO:0005989 toxoplasmosis skos:exactMatch MEDGEN:21597 semapv:UnspecifiedMatching MONDO:0005989 toxoplasmosis skos:exactMatch NCIT:C3418 Toxoplasmosis semapv:UnspecifiedMatching MONDO:0005989 toxoplasmosis skos:exactMatch SCTID:187192000 semapv:UnspecifiedMatching MONDO:0005989 toxoplasmosis skos:exactMatch UMLS:C0040558 semapv:UnspecifiedMatching MONDO:0005989 toxoplasmosis skos:exactMatch icd11.foundation:738999268 Toxoplasmosis semapv:UnspecifiedMatching MONDO:0005989 toxoplasmosis skos:exactMatch mesh:D014123 semapv:UnspecifiedMatching MONDO:0005990 tracheitis skos:exactMatch DOID:9392 tracheitis semapv:UnspecifiedMatching MONDO:0005990 tracheitis skos:exactMatch EFO:0007518 semapv:UnspecifiedMatching MONDO:0005990 tracheitis skos:exactMatch ICD10CM:J04.1 Acute tracheitis semapv:UnspecifiedMatching MONDO:0005990 tracheitis skos:exactMatch MEDGEN:11870 semapv:UnspecifiedMatching MONDO:0005990 tracheitis skos:exactMatch NCIT:C78643 Tracheitis semapv:UnspecifiedMatching MONDO:0005990 tracheitis skos:exactMatch SCTID:62994001 semapv:UnspecifiedMatching MONDO:0005990 tracheitis skos:exactMatch UMLS:C0040584 semapv:UnspecifiedMatching MONDO:0005990 tracheitis skos:exactMatch mesh:D014136 semapv:UnspecifiedMatching MONDO:0005991 trench fever skos:exactMatch DOID:11101 trench fever semapv:UnspecifiedMatching MONDO:0005991 trench fever skos:exactMatch EFO:0007519 semapv:UnspecifiedMatching MONDO:0005991 trench fever skos:exactMatch ICD10CM:A79.0 Trench fever semapv:UnspecifiedMatching MONDO:0005991 trench fever skos:exactMatch MEDGEN:21637 semapv:UnspecifiedMatching MONDO:0005991 trench fever skos:exactMatch Orphanet:64694 Trench fever semapv:UnspecifiedMatching MONDO:0005991 trench fever skos:exactMatch SCTID:82214002 semapv:UnspecifiedMatching MONDO:0005991 trench fever skos:exactMatch UMLS:C0040830 semapv:UnspecifiedMatching MONDO:0005991 trench fever skos:exactMatch icd11.foundation:1587737629 Trench fever semapv:UnspecifiedMatching MONDO:0005991 trench fever skos:exactMatch mesh:D014205 semapv:UnspecifiedMatching MONDO:0005993 Trichomonas vaginitis urogenital infection skos:exactMatch DOID:0050269 Trichomonas vaginalis trichomoniasis semapv:UnspecifiedMatching MONDO:0005993 Trichomonas vaginitis urogenital infection skos:exactMatch ICD10CM:A59.0 Urogenital trichomoniasis semapv:UnspecifiedMatching MONDO:0005993 Trichomonas vaginitis urogenital infection skos:exactMatch NCIT:C35083 Trichomonas Vaginitis semapv:UnspecifiedMatching MONDO:0005993 Trichomonas vaginitis urogenital infection skos:exactMatch SCTID:35089004 semapv:UnspecifiedMatching MONDO:0005993 Trichomonas vaginitis urogenital infection skos:exactMatch mesh:D014247 semapv:UnspecifiedMatching MONDO:0005994 trichostrongyloidiasis skos:exactMatch DOID:1255 trichostrongyloidiasis semapv:UnspecifiedMatching MONDO:0005994 trichostrongyloidiasis skos:exactMatch MEDGEN:11907 semapv:UnspecifiedMatching MONDO:0005994 trichostrongyloidiasis skos:exactMatch UMLS:C0040947 semapv:UnspecifiedMatching MONDO:0005994 trichostrongyloidiasis skos:exactMatch mesh:D014252 semapv:UnspecifiedMatching MONDO:0005995 trichostrongylosis skos:exactMatch DOID:1254 trichostrongylosis semapv:UnspecifiedMatching MONDO:0005995 trichostrongylosis skos:exactMatch EFO:0007523 semapv:UnspecifiedMatching MONDO:0005995 trichostrongylosis skos:exactMatch ICD10CM:B81.2 Trichostrongyliasis semapv:UnspecifiedMatching MONDO:0005995 trichostrongylosis skos:exactMatch MEDGEN:11908 semapv:UnspecifiedMatching MONDO:0005995 trichostrongylosis skos:exactMatch SCTID:33710003 semapv:UnspecifiedMatching MONDO:0005995 trichostrongylosis skos:exactMatch UMLS:C0040948 semapv:UnspecifiedMatching MONDO:0005995 trichostrongylosis skos:exactMatch mesh:D014253 semapv:UnspecifiedMatching MONDO:0005996 trichuriasis skos:exactMatch DOID:1252 trichuriasis semapv:UnspecifiedMatching MONDO:0005996 trichuriasis skos:exactMatch EFO:0007524 semapv:UnspecifiedMatching MONDO:0005996 trichuriasis skos:exactMatch ICD10CM:B79 Trichuriasis semapv:UnspecifiedMatching MONDO:0005996 trichuriasis skos:exactMatch ICD10WHO:B79 Trichuriasis semapv:UnspecifiedMatching MONDO:0005996 trichuriasis skos:exactMatch MEDGEN:1790401 semapv:UnspecifiedMatching MONDO:0005996 trichuriasis skos:exactMatch NCIT:C128399 Trichuriasis semapv:UnspecifiedMatching MONDO:0005996 trichuriasis skos:exactMatch SCTID:3752003 semapv:UnspecifiedMatching MONDO:0005996 trichuriasis skos:exactMatch UMLS:C5551334 semapv:UnspecifiedMatching MONDO:0005996 trichuriasis skos:exactMatch icd11.foundation:422746556 Trichuriasis semapv:UnspecifiedMatching MONDO:0005996 trichuriasis skos:exactMatch mesh:D014257 semapv:UnspecifiedMatching MONDO:0005997 tricuspid valve stenosis skos:exactMatch DOID:4078 tricuspid valve stenosis semapv:UnspecifiedMatching MONDO:0005997 tricuspid valve stenosis skos:exactMatch EFO:0007525 semapv:UnspecifiedMatching MONDO:0005997 tricuspid valve stenosis skos:exactMatch MEDGEN:21678 semapv:UnspecifiedMatching MONDO:0005997 tricuspid valve stenosis skos:exactMatch NCIT:C50783 Tricuspid Valve Stenosis semapv:UnspecifiedMatching MONDO:0005997 tricuspid valve stenosis skos:exactMatch SCTID:49915006 semapv:UnspecifiedMatching MONDO:0005997 tricuspid valve stenosis skos:exactMatch UMLS:C0040963 semapv:UnspecifiedMatching MONDO:0005997 tricuspid valve stenosis skos:exactMatch icd11.foundation:442626161 Tricuspid valve stenosis semapv:UnspecifiedMatching MONDO:0005997 tricuspid valve stenosis skos:exactMatch mesh:D014264 semapv:UnspecifiedMatching MONDO:0005998 trombiculiasis skos:exactMatch DOID:8399 trombiculiasis semapv:UnspecifiedMatching MONDO:0005998 trombiculiasis skos:exactMatch MEDGEN:11928 semapv:UnspecifiedMatching MONDO:0005998 trombiculiasis skos:exactMatch UMLS:C0041170 semapv:UnspecifiedMatching MONDO:0005998 trombiculiasis skos:exactMatch mesh:D014323 semapv:UnspecifiedMatching MONDO:0005999 tuberculous empyema skos:exactMatch DOID:14305 tuberculous empyema semapv:UnspecifiedMatching MONDO:0005999 tuberculous empyema skos:exactMatch EFO:0007528 semapv:UnspecifiedMatching MONDO:0005999 tuberculous empyema skos:exactMatch MEDGEN:4929 semapv:UnspecifiedMatching MONDO:0005999 tuberculous empyema skos:exactMatch NCIT:C34575 Tuberculous Empyema semapv:UnspecifiedMatching MONDO:0005999 tuberculous empyema skos:exactMatch SCTID:14527007 semapv:UnspecifiedMatching MONDO:0005999 tuberculous empyema skos:exactMatch UMLS:C0014014 semapv:UnspecifiedMatching MONDO:0005999 tuberculous empyema skos:exactMatch mesh:D004654 semapv:UnspecifiedMatching MONDO:0006000 tuberculous peritonitis skos:exactMatch DOID:9801 tuberculous peritonitis semapv:UnspecifiedMatching MONDO:0006000 tuberculous peritonitis skos:exactMatch EFO:0007529 semapv:UnspecifiedMatching MONDO:0006000 tuberculous peritonitis skos:exactMatch ICD10CM:A18.31 Tuberculous peritonitis semapv:UnspecifiedMatching MONDO:0006000 tuberculous peritonitis skos:exactMatch MEDGEN:22516 semapv:UnspecifiedMatching MONDO:0006000 tuberculous peritonitis skos:exactMatch SCTID:44572005 semapv:UnspecifiedMatching MONDO:0006000 tuberculous peritonitis skos:exactMatch UMLS:C0041325 semapv:UnspecifiedMatching MONDO:0006000 tuberculous peritonitis skos:exactMatch icd11.foundation:925657864 Tuberculous peritonitis semapv:UnspecifiedMatching MONDO:0006000 tuberculous peritonitis skos:exactMatch mesh:D014395 semapv:UnspecifiedMatching MONDO:0006001 urinary schistosomiasis skos:exactMatch DOID:1394 urinary schistosomiasis semapv:UnspecifiedMatching MONDO:0006001 urinary schistosomiasis skos:exactMatch EFO:0007530 semapv:UnspecifiedMatching MONDO:0006001 urinary schistosomiasis skos:exactMatch ICD10CM:B65.0 Schistosomiasis due to Schistosoma haematobium [urinary schistosomiasis] semapv:UnspecifiedMatching MONDO:0006001 urinary schistosomiasis skos:exactMatch MEDGEN:312392 semapv:UnspecifiedMatching MONDO:0006001 urinary schistosomiasis skos:exactMatch NCIT:C39294 Schistosoma Hematobium Infection semapv:UnspecifiedMatching MONDO:0006001 urinary schistosomiasis skos:exactMatch SCTID:236706006 semapv:UnspecifiedMatching MONDO:0006001 urinary schistosomiasis skos:exactMatch UMLS:C1704430 semapv:UnspecifiedMatching MONDO:0006001 urinary schistosomiasis skos:exactMatch mesh:D012553 semapv:UnspecifiedMatching MONDO:0006002 urogenital tuberculosis skos:exactMatch DOID:2149 urogenital tuberculosis semapv:UnspecifiedMatching MONDO:0006002 urogenital tuberculosis skos:exactMatch EFO:0007531 semapv:UnspecifiedMatching MONDO:0006002 urogenital tuberculosis skos:exactMatch MEDGEN:11950 semapv:UnspecifiedMatching MONDO:0006002 urogenital tuberculosis skos:exactMatch SCTID:4445009 semapv:UnspecifiedMatching MONDO:0006002 urogenital tuberculosis skos:exactMatch UMLS:C0041333 semapv:UnspecifiedMatching MONDO:0006002 urogenital tuberculosis skos:exactMatch mesh:D014401 semapv:UnspecifiedMatching MONDO:0006003 uterine corpus cancer skos:exactMatch DOID:9460 uterine corpus cancer semapv:UnspecifiedMatching MONDO:0006003 uterine corpus cancer skos:exactMatch EFO:0007532 semapv:UnspecifiedMatching MONDO:0006003 uterine corpus cancer skos:exactMatch NCIT:C61574 Malignant Uterine Corpus Neoplasm semapv:UnspecifiedMatching MONDO:0006003 uterine corpus cancer skos:exactMatch SCTID:371972005 semapv:UnspecifiedMatching MONDO:0006004 vasomotor rhinitis skos:exactMatch DOID:4730 vasomotor rhinitis semapv:UnspecifiedMatching MONDO:0006004 vasomotor rhinitis skos:exactMatch EFO:0007533 semapv:UnspecifiedMatching MONDO:0006004 vasomotor rhinitis skos:exactMatch ICD10CM:J30.0 Vasomotor rhinitis semapv:UnspecifiedMatching MONDO:0006004 vasomotor rhinitis skos:exactMatch MEDGEN:11229 semapv:UnspecifiedMatching MONDO:0006004 vasomotor rhinitis skos:exactMatch NCIT:C34988 Vasomotor Rhinitis semapv:UnspecifiedMatching MONDO:0006004 vasomotor rhinitis skos:exactMatch SCTID:8229003 semapv:UnspecifiedMatching MONDO:0006004 vasomotor rhinitis skos:exactMatch UMLS:C0035460 semapv:UnspecifiedMatching MONDO:0006004 vasomotor rhinitis skos:exactMatch icd11.foundation:1286636442 Vasomotor rhinitis semapv:UnspecifiedMatching MONDO:0006004 vasomotor rhinitis skos:exactMatch mesh:D012223 semapv:UnspecifiedMatching MONDO:0006005 Venezuelan equine encephalitis skos:exactMatch DOID:9584 Venezuelan equine encephalitis semapv:UnspecifiedMatching MONDO:0006005 Venezuelan equine encephalitis skos:exactMatch EFO:0007534 semapv:UnspecifiedMatching MONDO:0006005 Venezuelan equine encephalitis skos:exactMatch ICD10CM:A92.2 Venezuelan equine fever semapv:UnspecifiedMatching MONDO:0006005 Venezuelan equine encephalitis skos:exactMatch MEDGEN:4036 semapv:UnspecifiedMatching MONDO:0006005 Venezuelan equine encephalitis skos:exactMatch NCIT:C35121 Venezuelan Equine Fever semapv:UnspecifiedMatching MONDO:0006005 Venezuelan equine encephalitis skos:exactMatch SCTID:417067005 semapv:UnspecifiedMatching MONDO:0006005 Venezuelan equine encephalitis skos:exactMatch UMLS:C0014078 semapv:UnspecifiedMatching MONDO:0006005 Venezuelan equine encephalitis skos:exactMatch icd11.foundation:608978790 Venezuelan equine encephalitis semapv:UnspecifiedMatching MONDO:0006005 Venezuelan equine encephalitis skos:exactMatch mesh:D004685 semapv:UnspecifiedMatching MONDO:0006006 verrucous carcinoma skos:exactMatch DOID:3737 verrucous carcinoma semapv:UnspecifiedMatching MONDO:0006006 verrucous carcinoma skos:exactMatch EFO:0007535 semapv:UnspecifiedMatching MONDO:0006006 verrucous carcinoma skos:exactMatch MEDGEN:60213 semapv:UnspecifiedMatching MONDO:0006006 verrucous carcinoma skos:exactMatch NCIT:C3781 Verrucous Carcinoma semapv:UnspecifiedMatching MONDO:0006006 verrucous carcinoma skos:exactMatch SCTID:403904009 semapv:UnspecifiedMatching MONDO:0006006 verrucous carcinoma skos:exactMatch UMLS:C0206706 semapv:UnspecifiedMatching MONDO:0006006 verrucous carcinoma skos:exactMatch mesh:D018289 semapv:UnspecifiedMatching MONDO:0006007 vesicoureteral reflux skos:exactMatch DOID:9620 vesicoureteral reflux semapv:UnspecifiedMatching MONDO:0006007 vesicoureteral reflux skos:exactMatch EFO:0007536 semapv:UnspecifiedMatching MONDO:0006007 vesicoureteral reflux skos:exactMatch MEDGEN:21852 semapv:UnspecifiedMatching MONDO:0006007 vesicoureteral reflux skos:exactMatch SCTID:197811007 semapv:UnspecifiedMatching MONDO:0006007 vesicoureteral reflux skos:exactMatch UMLS:C0042580 semapv:UnspecifiedMatching MONDO:0006007 vesicoureteral reflux skos:exactMatch icd11.foundation:2142055506 Vesicoureteral reflux semapv:UnspecifiedMatching MONDO:0006007 vesicoureteral reflux skos:exactMatch mesh:D014718 semapv:UnspecifiedMatching MONDO:0006008 vestibular neuronitis skos:exactMatch DOID:12683 vestibular neuronitis semapv:UnspecifiedMatching MONDO:0006008 vestibular neuronitis skos:exactMatch EFO:0007537 semapv:UnspecifiedMatching MONDO:0006008 vestibular neuronitis skos:exactMatch ICD10CM:H81.2 Vestibular neuronitis semapv:UnspecifiedMatching MONDO:0006008 vestibular neuronitis skos:exactMatch MEDGEN:155655 semapv:UnspecifiedMatching MONDO:0006008 vestibular neuronitis skos:exactMatch SCTID:186738001 semapv:UnspecifiedMatching MONDO:0006008 vestibular neuronitis skos:exactMatch UMLS:C0751908 semapv:UnspecifiedMatching MONDO:0006008 vestibular neuronitis skos:exactMatch mesh:D020338 semapv:UnspecifiedMatching MONDO:0006009 viral encephalitis skos:exactMatch DOID:646 viral encephalitis semapv:UnspecifiedMatching MONDO:0006009 viral encephalitis skos:exactMatch EFO:0007538 semapv:UnspecifiedMatching MONDO:0006009 viral encephalitis skos:exactMatch MEDGEN:116719 semapv:UnspecifiedMatching MONDO:0006009 viral encephalitis skos:exactMatch NCIT:C35302 Viral Encephalitis semapv:UnspecifiedMatching MONDO:0006009 viral encephalitis skos:exactMatch Orphanet:98252 Infectious encephalitis semapv:UnspecifiedMatching MONDO:0006009 viral encephalitis skos:exactMatch SCTID:34476008 semapv:UnspecifiedMatching MONDO:0006009 viral encephalitis skos:exactMatch UMLS:C0243010 semapv:UnspecifiedMatching MONDO:0006010 salmonid viral hemorrhagic septicemia skos:exactMatch EFO:0007539 semapv:UnspecifiedMatching MONDO:0006010 salmonid viral hemorrhagic septicemia skos:exactMatch mesh:D031941 semapv:UnspecifiedMatching MONDO:0006011 viral hepatitis skos:exactMatch DOID:1884 viral hepatitis semapv:UnspecifiedMatching MONDO:0006011 viral hepatitis skos:exactMatch EFO:0004196 semapv:UnspecifiedMatching MONDO:0006011 viral hepatitis skos:exactMatch ICD10CM:B15-B19 Viral hepatitis (B15-B19) semapv:UnspecifiedMatching MONDO:0006011 viral hepatitis skos:exactMatch ICD10WHO:B15-B19 Viral hepatitis semapv:UnspecifiedMatching MONDO:0006011 viral hepatitis skos:exactMatch MEDGEN:22652 semapv:UnspecifiedMatching MONDO:0006011 viral hepatitis skos:exactMatch NCIT:C35124 Viral Hepatitis semapv:UnspecifiedMatching MONDO:0006011 viral hepatitis skos:exactMatch SCTID:3738000 semapv:UnspecifiedMatching MONDO:0006011 viral hepatitis skos:exactMatch UMLS:C0042721 semapv:UnspecifiedMatching MONDO:0006011 viral hepatitis skos:exactMatch icd11.foundation:985510409 Viral hepatitis semapv:UnspecifiedMatching MONDO:0006011 viral hepatitis skos:exactMatch mesh:D006525 semapv:UnspecifiedMatching MONDO:0006012 viral pneumonia skos:exactMatch DOID:10533 viral pneumonia semapv:UnspecifiedMatching MONDO:0006012 viral pneumonia skos:exactMatch EFO:0007541 semapv:UnspecifiedMatching MONDO:0006012 viral pneumonia skos:exactMatch MEDGEN:45974 semapv:UnspecifiedMatching MONDO:0006012 viral pneumonia skos:exactMatch SCTID:75570004 semapv:UnspecifiedMatching MONDO:0006012 viral pneumonia skos:exactMatch UMLS:C0032310 semapv:UnspecifiedMatching MONDO:0006012 viral pneumonia skos:exactMatch icd11.foundation:1024154490 Viral pneumonia semapv:UnspecifiedMatching MONDO:0006012 viral pneumonia skos:exactMatch mesh:D011024 semapv:UnspecifiedMatching MONDO:0006013 visna disease skos:exactMatch mesh:D016182 semapv:UnspecifiedMatching MONDO:0006014 vulvovaginal candidiasis skos:exactMatch DOID:2272 vulvovaginal candidiasis semapv:UnspecifiedMatching MONDO:0006014 vulvovaginal candidiasis skos:exactMatch EFO:0007543 semapv:UnspecifiedMatching MONDO:0006014 vulvovaginal candidiasis skos:exactMatch ICD10CM:B37.3 Candidiasis of vulva and vagina semapv:UnspecifiedMatching MONDO:0006014 vulvovaginal candidiasis skos:exactMatch MEDGEN:195979 semapv:UnspecifiedMatching MONDO:0006014 vulvovaginal candidiasis skos:exactMatch NCIT:C2914 Vulvovaginal Candidiasis semapv:UnspecifiedMatching MONDO:0006014 vulvovaginal candidiasis skos:exactMatch SCTID:72605008 semapv:UnspecifiedMatching MONDO:0006014 vulvovaginal candidiasis skos:exactMatch UMLS:C0700345 semapv:UnspecifiedMatching MONDO:0006014 vulvovaginal candidiasis skos:exactMatch mesh:D002181 semapv:UnspecifiedMatching MONDO:0006015 Waterhouse-Friderichsen syndrome skos:exactMatch DOID:9931 Waterhouse-Friderichsen syndrome semapv:UnspecifiedMatching MONDO:0006015 Waterhouse-Friderichsen syndrome skos:exactMatch EFO:0007544 semapv:UnspecifiedMatching MONDO:0006015 Waterhouse-Friderichsen syndrome skos:exactMatch ICD10CM:A39.1 Waterhouse-Friderichsen syndrome semapv:UnspecifiedMatching MONDO:0006015 Waterhouse-Friderichsen syndrome skos:exactMatch MEDGEN:234675 semapv:UnspecifiedMatching MONDO:0006015 Waterhouse-Friderichsen syndrome skos:exactMatch NCIT:C85225 Waterhouse-Friderichsen Syndrome semapv:UnspecifiedMatching MONDO:0006015 Waterhouse-Friderichsen syndrome skos:exactMatch Orphanet:100067 Waterhouse-Friderichsen syndrome semapv:UnspecifiedMatching MONDO:0006015 Waterhouse-Friderichsen syndrome skos:exactMatch SCTID:36102002 semapv:UnspecifiedMatching MONDO:0006015 Waterhouse-Friderichsen syndrome skos:exactMatch UMLS:C1403891 semapv:UnspecifiedMatching MONDO:0006015 Waterhouse-Friderichsen syndrome skos:exactMatch icd11.foundation:2072098125 Waterhouse-Friderichsen syndrome semapv:UnspecifiedMatching MONDO:0006015 Waterhouse-Friderichsen syndrome skos:exactMatch mesh:D014884 semapv:UnspecifiedMatching MONDO:0006018 Wissler syndrome skos:exactMatch DOID:3047 Wissler-Fanconi syndrome semapv:UnspecifiedMatching MONDO:0006018 Wissler syndrome skos:exactMatch MEDGEN:53087 semapv:UnspecifiedMatching MONDO:0006018 Wissler syndrome skos:exactMatch UMLS:C0043195 semapv:UnspecifiedMatching MONDO:0006018 Wissler syndrome skos:exactMatch mesh:D014924 semapv:UnspecifiedMatching MONDO:0006019 yaws skos:exactMatch DOID:10371 yaws semapv:UnspecifiedMatching MONDO:0006019 yaws skos:exactMatch ICD10CM:A66 Yaws semapv:UnspecifiedMatching MONDO:0006019 yaws skos:exactMatch ICD10WHO:A66 Yaws semapv:UnspecifiedMatching MONDO:0006019 yaws skos:exactMatch MEDGEN:12186 semapv:UnspecifiedMatching MONDO:0006019 yaws skos:exactMatch NCIT:C41353 Yaws semapv:UnspecifiedMatching MONDO:0006019 yaws skos:exactMatch SCTID:70647001 semapv:UnspecifiedMatching MONDO:0006019 yaws skos:exactMatch UMLS:C0043388 semapv:UnspecifiedMatching MONDO:0006019 yaws skos:exactMatch icd11.foundation:840525023 Yaws semapv:UnspecifiedMatching MONDO:0006019 yaws skos:exactMatch mesh:D015001 semapv:UnspecifiedMatching MONDO:0006021 Prinzmetal angina skos:exactMatch DOID:0111151 Prinzmetal angina semapv:UnspecifiedMatching MONDO:0006021 Prinzmetal angina skos:exactMatch EFO:1000013 semapv:UnspecifiedMatching MONDO:0006021 Prinzmetal angina skos:exactMatch MEDGEN:295 semapv:UnspecifiedMatching MONDO:0006021 Prinzmetal angina skos:exactMatch SCTID:87343002 semapv:UnspecifiedMatching MONDO:0006021 Prinzmetal angina skos:exactMatch UMLS:C0002963 semapv:UnspecifiedMatching MONDO:0006021 Prinzmetal angina skos:exactMatch icd11.foundation:563516749 Coronary vasospastic disease with angina semapv:UnspecifiedMatching MONDO:0006021 Prinzmetal angina skos:exactMatch mesh:D000788 semapv:UnspecifiedMatching MONDO:0006022 acidosis disorder skos:exactMatch EFO:1000014 semapv:UnspecifiedMatching MONDO:0006022 acidosis disorder skos:exactMatch ICD10CM:E87.2 Acidosis semapv:UnspecifiedMatching MONDO:0006022 acidosis disorder skos:exactMatch MEDGEN:1296 semapv:UnspecifiedMatching MONDO:0006022 acidosis disorder skos:exactMatch SCTID:51387008 semapv:UnspecifiedMatching MONDO:0006022 acidosis disorder skos:exactMatch UMLS:C0001122 semapv:UnspecifiedMatching MONDO:0006025 autosomal recessive disease skos:exactMatch DOID:0050737 autosomal recessive disease semapv:UnspecifiedMatching MONDO:0006025 autosomal recessive disease skos:exactMatch EFO:1000017 semapv:UnspecifiedMatching MONDO:0006025 autosomal recessive disease skos:exactMatch MEDGEN:539209 semapv:UnspecifiedMatching MONDO:0006025 autosomal recessive disease skos:exactMatch SCTID:85995004 semapv:UnspecifiedMatching MONDO:0006025 autosomal recessive disease skos:exactMatch UMLS:C0265388 semapv:UnspecifiedMatching MONDO:0006026 urinary bladder disorder skos:exactMatch DOID:365 bladder disease semapv:UnspecifiedMatching MONDO:0006026 urinary bladder disorder skos:exactMatch EFO:1000018 semapv:UnspecifiedMatching MONDO:0006026 urinary bladder disorder skos:exactMatch MEDGEN:2278 semapv:UnspecifiedMatching MONDO:0006026 urinary bladder disorder skos:exactMatch NCIT:C2900 Bladder Disorder semapv:UnspecifiedMatching MONDO:0006026 urinary bladder disorder skos:exactMatch SCTID:42643001 semapv:UnspecifiedMatching MONDO:0006026 urinary bladder disorder skos:exactMatch UMLS:C0005686 semapv:UnspecifiedMatching MONDO:0006026 urinary bladder disorder skos:exactMatch mesh:D001745 semapv:UnspecifiedMatching MONDO:0006028 cecum adenocarcinoma skos:exactMatch DOID:3039 cecum adenocarcinoma semapv:UnspecifiedMatching MONDO:0006028 cecum adenocarcinoma skos:exactMatch EFO:1000020 semapv:UnspecifiedMatching MONDO:0006028 cecum adenocarcinoma skos:exactMatch MEDGEN:234098 semapv:UnspecifiedMatching MONDO:0006028 cecum adenocarcinoma skos:exactMatch NCIT:C5543 Cecum Adenocarcinoma semapv:UnspecifiedMatching MONDO:0006028 cecum adenocarcinoma skos:exactMatch SCTID:413446001 semapv:UnspecifiedMatching MONDO:0006028 cecum adenocarcinoma skos:exactMatch UMLS:C1332866 semapv:UnspecifiedMatching MONDO:0006029 cecum carcinoma skos:exactMatch DOID:1519 cecum carcinoma semapv:UnspecifiedMatching MONDO:0006029 cecum carcinoma skos:exactMatch EFO:1000021 semapv:UnspecifiedMatching MONDO:0006029 cecum carcinoma skos:exactMatch MEDGEN:101762 semapv:UnspecifiedMatching MONDO:0006029 cecum carcinoma skos:exactMatch NCIT:C3491 Cecum Carcinoma semapv:UnspecifiedMatching MONDO:0006029 cecum carcinoma skos:exactMatch SCTID:255081007 semapv:UnspecifiedMatching MONDO:0006029 cecum carcinoma skos:exactMatch UMLS:C0149640 semapv:UnspecifiedMatching MONDO:0006030 chronic cystitis skos:exactMatch DOID:1680 chronic cystitis semapv:UnspecifiedMatching MONDO:0006030 chronic cystitis skos:exactMatch EFO:1000023 semapv:UnspecifiedMatching MONDO:0006030 chronic cystitis skos:exactMatch MEDGEN:65146 semapv:UnspecifiedMatching MONDO:0006030 chronic cystitis skos:exactMatch NCIT:C27008 Chronic Cystitis semapv:UnspecifiedMatching MONDO:0006030 chronic cystitis skos:exactMatch SCTID:33655002 semapv:UnspecifiedMatching MONDO:0006030 chronic cystitis skos:exactMatch UMLS:C0221763 semapv:UnspecifiedMatching MONDO:0006031 chronic rhinosinusitis skos:exactMatch EFO:1000024 semapv:UnspecifiedMatching MONDO:0006031 chronic rhinosinusitis skos:exactMatch MEDGEN:101751 semapv:UnspecifiedMatching MONDO:0006031 chronic rhinosinusitis skos:exactMatch NCIT:C35151 Chronic Sinusitis semapv:UnspecifiedMatching MONDO:0006031 chronic rhinosinusitis skos:exactMatch SCTID:40055000 semapv:UnspecifiedMatching MONDO:0006031 chronic rhinosinusitis skos:exactMatch UMLS:C0149516 semapv:UnspecifiedMatching MONDO:0006031 chronic rhinosinusitis skos:exactMatch icd11.foundation:1836987572 Chronic rhinosinusitis semapv:UnspecifiedMatching MONDO:0006032 cystitis skos:exactMatch DOID:1679 cystitis semapv:UnspecifiedMatching MONDO:0006032 cystitis skos:exactMatch EFO:1000025 semapv:UnspecifiedMatching MONDO:0006032 cystitis skos:exactMatch ICD10CM:N30 Cystitis semapv:UnspecifiedMatching MONDO:0006032 cystitis skos:exactMatch ICD10WHO:N30 Cystitis semapv:UnspecifiedMatching MONDO:0006032 cystitis skos:exactMatch MEDGEN:8227 semapv:UnspecifiedMatching MONDO:0006032 cystitis skos:exactMatch NCIT:C26738 Cystitis semapv:UnspecifiedMatching MONDO:0006032 cystitis skos:exactMatch SCTID:38822007 semapv:UnspecifiedMatching MONDO:0006032 cystitis skos:exactMatch UMLS:C0010692 semapv:UnspecifiedMatching MONDO:0006032 cystitis skos:exactMatch icd11.foundation:1181120673 Cystitis semapv:UnspecifiedMatching MONDO:0006032 cystitis skos:exactMatch mesh:D003556 semapv:UnspecifiedMatching MONDO:0006033 diffuse intrinsic pontine glioma skos:exactMatch EFO:1000026 semapv:UnspecifiedMatching MONDO:0006033 diffuse intrinsic pontine glioma skos:exactMatch MEDGEN:458884 semapv:UnspecifiedMatching MONDO:0006033 diffuse intrinsic pontine glioma skos:exactMatch NCIT:C94764 Diffuse Intrinsic Pontine Glioma semapv:UnspecifiedMatching MONDO:0006033 diffuse intrinsic pontine glioma skos:exactMatch Orphanet:497188 Diffuse intrinsic pontine glioma semapv:UnspecifiedMatching MONDO:0006033 diffuse intrinsic pontine glioma skos:exactMatch UMLS:C2986658 semapv:UnspecifiedMatching MONDO:0006033 diffuse intrinsic pontine glioma skos:exactMatch mesh:D000080443 semapv:UnspecifiedMatching MONDO:0006034 gastric adenosquamous carcinoma skos:exactMatch DOID:5635 gastric adenosquamous carcinoma semapv:UnspecifiedMatching MONDO:0006034 gastric adenosquamous carcinoma skos:exactMatch EFO:1000029 semapv:UnspecifiedMatching MONDO:0006034 gastric adenosquamous carcinoma skos:exactMatch MEDGEN:272661 semapv:UnspecifiedMatching MONDO:0006034 gastric adenosquamous carcinoma skos:exactMatch NCIT:C5474 Gastric Adenosquamous Carcinoma semapv:UnspecifiedMatching MONDO:0006034 gastric adenosquamous carcinoma skos:exactMatch UMLS:C1333761 semapv:UnspecifiedMatching MONDO:0006035 gastric tubular adenocarcinoma skos:exactMatch DOID:6595 gastric tubular adenocarcinoma semapv:UnspecifiedMatching MONDO:0006035 gastric tubular adenocarcinoma skos:exactMatch EFO:1000030 semapv:UnspecifiedMatching MONDO:0006035 gastric tubular adenocarcinoma skos:exactMatch MEDGEN:234303 semapv:UnspecifiedMatching MONDO:0006035 gastric tubular adenocarcinoma skos:exactMatch NCIT:C5473 Gastric Tubular Adenocarcinoma semapv:UnspecifiedMatching MONDO:0006035 gastric tubular adenocarcinoma skos:exactMatch UMLS:C1333791 semapv:UnspecifiedMatching MONDO:0006036 granulosa cell tumor skos:exactMatch DOID:2999 granulosa cell tumor semapv:UnspecifiedMatching MONDO:0006036 granulosa cell tumor skos:exactMatch EFO:1000032 semapv:UnspecifiedMatching MONDO:0006036 granulosa cell tumor skos:exactMatch MEDGEN:6676 semapv:UnspecifiedMatching MONDO:0006036 granulosa cell tumor skos:exactMatch NCIT:C3070 Granulosa Cell Tumor semapv:UnspecifiedMatching MONDO:0006036 granulosa cell tumor skos:exactMatch UMLS:C0018206 semapv:UnspecifiedMatching MONDO:0006036 granulosa cell tumor skos:exactMatch mesh:D006106 semapv:UnspecifiedMatching MONDO:0006037 hydrolethalus syndrome skos:exactMatch DOID:0050779 hydrolethalus syndrome semapv:UnspecifiedMatching MONDO:0006037 hydrolethalus syndrome skos:exactMatch MEDGEN:419335 semapv:UnspecifiedMatching MONDO:0006037 hydrolethalus syndrome skos:exactMatch OMIMPS:236680 Hydrolethalus syndrome semapv:UnspecifiedMatching MONDO:0006037 hydrolethalus syndrome skos:exactMatch Orphanet:2189 Hydrolethalus semapv:UnspecifiedMatching MONDO:0006037 hydrolethalus syndrome skos:exactMatch SCTID:721232000 semapv:UnspecifiedMatching MONDO:0006037 hydrolethalus syndrome skos:exactMatch UMLS:C2931104 semapv:UnspecifiedMatching MONDO:0006037 hydrolethalus syndrome skos:exactMatch mesh:C536079 semapv:UnspecifiedMatching MONDO:0006038 indeterminate colitis skos:exactMatch EFO:1000034 semapv:UnspecifiedMatching MONDO:0006038 indeterminate colitis skos:exactMatch ICD10CM:K52.3 Indeterminate colitis semapv:UnspecifiedMatching MONDO:0006038 indeterminate colitis skos:exactMatch MEDGEN:87418 semapv:UnspecifiedMatching MONDO:0006038 indeterminate colitis skos:exactMatch NCIT:C27110 Colitis of Indeterminate Type semapv:UnspecifiedMatching MONDO:0006038 indeterminate colitis skos:exactMatch SCTID:235746007 semapv:UnspecifiedMatching MONDO:0006038 indeterminate colitis skos:exactMatch UMLS:C0341332 semapv:UnspecifiedMatching MONDO:0006038 indeterminate colitis skos:exactMatch icd11.foundation:553916326 Indeterminate colitis semapv:UnspecifiedMatching MONDO:0006039 infectious colitis skos:exactMatch EFO:1000035 semapv:UnspecifiedMatching MONDO:0006039 infectious colitis skos:exactMatch MEDGEN:75798 semapv:UnspecifiedMatching MONDO:0006039 infectious colitis skos:exactMatch NCIT:C78359 Infectious Colitis semapv:UnspecifiedMatching MONDO:0006039 infectious colitis skos:exactMatch SCTID:39341005 semapv:UnspecifiedMatching MONDO:0006039 infectious colitis skos:exactMatch UMLS:C0277524 semapv:UnspecifiedMatching MONDO:0006040 lactic acidosis skos:exactMatch EFO:1000036 semapv:UnspecifiedMatching MONDO:0006040 lactic acidosis skos:exactMatch MEDGEN:1717 semapv:UnspecifiedMatching MONDO:0006040 lactic acidosis skos:exactMatch SCTID:91273001 semapv:UnspecifiedMatching MONDO:0006040 lactic acidosis skos:exactMatch UMLS:C0001125 semapv:UnspecifiedMatching MONDO:0006040 lactic acidosis skos:exactMatch mesh:D000140 semapv:UnspecifiedMatching MONDO:0006041 lung carcinoid tumor skos:exactMatch EFO:1000037 semapv:UnspecifiedMatching MONDO:0006041 lung carcinoid tumor skos:exactMatch MEDGEN:79070 semapv:UnspecifiedMatching MONDO:0006041 lung carcinoid tumor skos:exactMatch NCIT:C4038 Lung Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO:0006041 lung carcinoid tumor skos:exactMatch SCTID:254627002 semapv:UnspecifiedMatching MONDO:0006041 lung carcinoid tumor skos:exactMatch UMLS:C0280089 semapv:UnspecifiedMatching MONDO:0006042 meningeal tuberculosis skos:exactMatch EFO:1000039 semapv:UnspecifiedMatching MONDO:0006042 meningeal tuberculosis skos:exactMatch ICD10CM:A17.0 Tuberculous meningitis semapv:UnspecifiedMatching MONDO:0006042 meningeal tuberculosis skos:exactMatch MEDGEN:21725 semapv:UnspecifiedMatching MONDO:0006042 meningeal tuberculosis skos:exactMatch NCIT:C84888 Meningeal Tuberculosis semapv:UnspecifiedMatching MONDO:0006042 meningeal tuberculosis skos:exactMatch SCTID:58437007 semapv:UnspecifiedMatching MONDO:0006042 meningeal tuberculosis skos:exactMatch UMLS:C0041318 semapv:UnspecifiedMatching MONDO:0006042 meningeal tuberculosis skos:exactMatch mesh:D014390 semapv:UnspecifiedMatching MONDO:0006043 metaplastic breast carcinoma skos:exactMatch DOID:4680 breast metaplastic carcinoma semapv:UnspecifiedMatching MONDO:0006043 metaplastic breast carcinoma skos:exactMatch EFO:1000040 semapv:UnspecifiedMatching MONDO:0006043 metaplastic breast carcinoma skos:exactMatch MEDGEN:277360 semapv:UnspecifiedMatching MONDO:0006043 metaplastic breast carcinoma skos:exactMatch NCIT:C5164 Breast Metaplastic Carcinoma semapv:UnspecifiedMatching MONDO:0006043 metaplastic breast carcinoma skos:exactMatch Orphanet:213531 Metaplastic carcinoma of the breast semapv:UnspecifiedMatching MONDO:0006043 metaplastic breast carcinoma skos:exactMatch SCTID:763479005 semapv:UnspecifiedMatching MONDO:0006043 metaplastic breast carcinoma skos:exactMatch UMLS:C1334708 semapv:UnspecifiedMatching MONDO:0006043 metaplastic breast carcinoma skos:exactMatch icd11.foundation:313445809 Metaplastic carcinoma of breast semapv:UnspecifiedMatching MONDO:0006044 nephrosclerosis skos:exactMatch DOID:11664 nephrosclerosis semapv:UnspecifiedMatching MONDO:0006044 nephrosclerosis skos:exactMatch EFO:1000041 semapv:UnspecifiedMatching MONDO:0006044 nephrosclerosis skos:exactMatch MEDGEN:14330 semapv:UnspecifiedMatching MONDO:0006044 nephrosclerosis skos:exactMatch SCTID:32916005 semapv:UnspecifiedMatching MONDO:0006044 nephrosclerosis skos:exactMatch UMLS:C0027719 semapv:UnspecifiedMatching MONDO:0006044 nephrosclerosis skos:exactMatch icd11.foundation:1878591797 Nephrosclerosis semapv:UnspecifiedMatching MONDO:0006044 nephrosclerosis skos:exactMatch mesh:D009400 semapv:UnspecifiedMatching MONDO:0006045 ovarian clear cell adenocarcinoma skos:exactMatch DOID:5304 ovarian clear cell adenocarcinoma semapv:UnspecifiedMatching MONDO:0006045 ovarian clear cell adenocarcinoma skos:exactMatch EFO:1000042 semapv:UnspecifiedMatching MONDO:0006045 ovarian clear cell adenocarcinoma skos:exactMatch MEDGEN:276659 semapv:UnspecifiedMatching MONDO:0006045 ovarian clear cell adenocarcinoma skos:exactMatch NCIT:C40078 Ovarian Clear Cell Adenocarcinoma semapv:UnspecifiedMatching MONDO:0006045 ovarian clear cell adenocarcinoma skos:exactMatch Orphanet:398971 Clear cell adenocarcinoma of the ovary semapv:UnspecifiedMatching MONDO:0006045 ovarian clear cell adenocarcinoma skos:exactMatch SCTID:763131005 semapv:UnspecifiedMatching MONDO:0006045 ovarian clear cell adenocarcinoma skos:exactMatch UMLS:C1518693 semapv:UnspecifiedMatching MONDO:0006045 ovarian clear cell adenocarcinoma skos:exactMatch icd11.foundation:315825558 Clear cell adenocarcinoma of ovary semapv:UnspecifiedMatching MONDO:0006046 ovarian serous cystadenocarcinoma skos:exactMatch DOID:5746 ovarian serous cystadenocarcinoma semapv:UnspecifiedMatching MONDO:0006046 ovarian serous cystadenocarcinoma skos:exactMatch EFO:1000043 semapv:UnspecifiedMatching MONDO:0006046 ovarian serous cystadenocarcinoma skos:exactMatch MEDGEN:83541 semapv:UnspecifiedMatching MONDO:0006046 ovarian serous cystadenocarcinoma skos:exactMatch NCIT:C7978 Ovarian Serous Cystadenocarcinoma semapv:UnspecifiedMatching MONDO:0006046 ovarian serous cystadenocarcinoma skos:exactMatch UMLS:C0279663 semapv:UnspecifiedMatching MONDO:0006047 pancreatic adenocarcinoma skos:exactMatch DOID:4074 pancreatic adenocarcinoma semapv:UnspecifiedMatching MONDO:0006047 pancreatic adenocarcinoma skos:exactMatch EFO:1000044 semapv:UnspecifiedMatching MONDO:0006047 pancreatic adenocarcinoma skos:exactMatch MEDGEN:83800 semapv:UnspecifiedMatching MONDO:0006047 pancreatic adenocarcinoma skos:exactMatch NCIT:C8294 Pancreatic Adenocarcinoma semapv:UnspecifiedMatching MONDO:0006047 pancreatic adenocarcinoma skos:exactMatch SCTID:700423003 semapv:UnspecifiedMatching MONDO:0006047 pancreatic adenocarcinoma skos:exactMatch UMLS:C0281361 semapv:UnspecifiedMatching MONDO:0006047 pancreatic adenocarcinoma skos:exactMatch icd11.foundation:1663659989 Adenocarcinoma of pancreas semapv:UnspecifiedMatching MONDO:0006049 papillary lung adenocarcinoma skos:exactMatch DOID:5588 lung papillary adenocarcinoma semapv:UnspecifiedMatching MONDO:0006049 papillary lung adenocarcinoma skos:exactMatch EFO:1000046 semapv:UnspecifiedMatching MONDO:0006049 papillary lung adenocarcinoma skos:exactMatch MEDGEN:277495 semapv:UnspecifiedMatching MONDO:0006049 papillary lung adenocarcinoma skos:exactMatch NCIT:C5650 Lung Papillary Adenocarcinoma semapv:UnspecifiedMatching MONDO:0006049 papillary lung adenocarcinoma skos:exactMatch SCTID:707411007 semapv:UnspecifiedMatching MONDO:0006049 papillary lung adenocarcinoma skos:exactMatch UMLS:C1335325 semapv:UnspecifiedMatching MONDO:0006050 pleomorphic breast carcinoma skos:exactMatch EFO:1000047 semapv:UnspecifiedMatching MONDO:0006050 pleomorphic breast carcinoma skos:exactMatch MEDGEN:307976 semapv:UnspecifiedMatching MONDO:0006050 pleomorphic breast carcinoma skos:exactMatch NCIT:C5161 Breast Pleomorphic Carcinoma semapv:UnspecifiedMatching MONDO:0006050 pleomorphic breast carcinoma skos:exactMatch UMLS:C1514169 semapv:UnspecifiedMatching MONDO:0006052 pulmonary tuberculosis skos:exactMatch DOID:2957 pulmonary tuberculosis semapv:UnspecifiedMatching MONDO:0006052 pulmonary tuberculosis skos:exactMatch EFO:1000049 semapv:UnspecifiedMatching MONDO:0006052 pulmonary tuberculosis skos:exactMatch MEDGEN:11947 semapv:UnspecifiedMatching MONDO:0006052 pulmonary tuberculosis skos:exactMatch NCIT:C26899 Pulmonary Tuberculosis semapv:UnspecifiedMatching MONDO:0006052 pulmonary tuberculosis skos:exactMatch SCTID:154283005 semapv:UnspecifiedMatching MONDO:0006052 pulmonary tuberculosis skos:exactMatch UMLS:C0041327 semapv:UnspecifiedMatching MONDO:0006052 pulmonary tuberculosis skos:exactMatch mesh:D014397 semapv:UnspecifiedMatching MONDO:0006053 renal leiomyoma skos:exactMatch EFO:1000050 semapv:UnspecifiedMatching MONDO:0006053 renal leiomyoma skos:exactMatch MEDGEN:1691847 semapv:UnspecifiedMatching MONDO:0006053 renal leiomyoma skos:exactMatch NCIT:C159209 Kidney Leiomyoma semapv:UnspecifiedMatching MONDO:0006053 renal leiomyoma skos:exactMatch UMLS:C5204259 semapv:UnspecifiedMatching MONDO:0006054 reproductive system neoplasm skos:exactMatch EFO:1000051 semapv:UnspecifiedMatching MONDO:0006054 reproductive system neoplasm skos:exactMatch MEDGEN:64246 semapv:UnspecifiedMatching MONDO:0006054 reproductive system neoplasm skos:exactMatch NCIT:C3674 Reproductive System Neoplasm semapv:UnspecifiedMatching MONDO:0006054 reproductive system neoplasm skos:exactMatch UMLS:C0178830 semapv:UnspecifiedMatching MONDO:0006055 sex cord-stromal tumor skos:exactMatch DOID:192 sex cord-gonadal stromal tumor semapv:UnspecifiedMatching MONDO:0006055 sex cord-stromal tumor skos:exactMatch EFO:1000052 semapv:UnspecifiedMatching MONDO:0006055 sex cord-stromal tumor skos:exactMatch MEDGEN:104926 semapv:UnspecifiedMatching MONDO:0006055 sex cord-stromal tumor skos:exactMatch NCIT:C3794 Sex Cord-Stromal Tumor semapv:UnspecifiedMatching MONDO:0006055 sex cord-stromal tumor skos:exactMatch UMLS:C0206724 semapv:UnspecifiedMatching MONDO:0006056 squamous cell breast carcinoma skos:exactMatch DOID:5514 breast squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0006056 squamous cell breast carcinoma skos:exactMatch EFO:1000053 semapv:UnspecifiedMatching MONDO:0006056 squamous cell breast carcinoma skos:exactMatch MEDGEN:233465 semapv:UnspecifiedMatching MONDO:0006056 squamous cell breast carcinoma skos:exactMatch NCIT:C5177 Breast Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0006056 squamous cell breast carcinoma skos:exactMatch UMLS:C1336079 semapv:UnspecifiedMatching MONDO:0006058 Wilms tumor skos:exactMatch MEDGEN:10221 semapv:UnspecifiedMatching MONDO:0006058 Wilms tumor skos:exactMatch NCIT:C3267 Wilms Tumor semapv:UnspecifiedMatching MONDO:0006058 Wilms tumor skos:exactMatch UMLS:C0027708 semapv:UnspecifiedMatching MONDO:0006058 Wilms tumor skos:exactMatch mesh:D009396 semapv:UnspecifiedMatching MONDO:0006059 nasal cavity squamous cell carcinoma skos:exactMatch DOID:5515 nasal cavity squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0006059 nasal cavity squamous cell carcinoma skos:exactMatch EFO:1000057 semapv:UnspecifiedMatching MONDO:0006059 nasal cavity squamous cell carcinoma skos:exactMatch MEDGEN:79104 semapv:UnspecifiedMatching MONDO:0006059 nasal cavity squamous cell carcinoma skos:exactMatch NCIT:C8192 Nasal Cavity Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0006059 nasal cavity squamous cell carcinoma skos:exactMatch UMLS:C0280333 semapv:UnspecifiedMatching MONDO:0006060 nasopharyngeal squamous cell carcinoma skos:exactMatch EFO:1000058 semapv:UnspecifiedMatching MONDO:0006060 nasopharyngeal squamous cell carcinoma skos:exactMatch MEDGEN:76017 semapv:UnspecifiedMatching MONDO:0006060 nasopharyngeal squamous cell carcinoma skos:exactMatch NCIT:C167265 Nasopharyngeal Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0006060 nasopharyngeal squamous cell carcinoma skos:exactMatch UMLS:C0279698 semapv:UnspecifiedMatching MONDO:0006061 cervical artery dissection skos:exactMatch EFO:1000059 semapv:UnspecifiedMatching MONDO:0006061 cervical artery dissection skos:exactMatch MEDGEN:1709179 semapv:UnspecifiedMatching MONDO:0006061 cervical artery dissection skos:exactMatch UMLS:C5396999 semapv:UnspecifiedMatching MONDO:0006065 lactose intolerance adult type skos:exactMatch EFO:1000063 semapv:UnspecifiedMatching MONDO:0006065 lactose intolerance adult type skos:exactMatch MEDGEN:75659 semapv:UnspecifiedMatching MONDO:0006065 lactose intolerance adult type skos:exactMatch OMIM:223100 lactose intolerance, adult type semapv:UnspecifiedMatching MONDO:0006065 lactose intolerance adult type skos:exactMatch UMLS:C0268181 semapv:UnspecifiedMatching MONDO:0006066 acinar prostate adenocarcinoma, foamy gland variant skos:exactMatch EFO:1000064 semapv:UnspecifiedMatching MONDO:0006066 acinar prostate adenocarcinoma, foamy gland variant skos:exactMatch MEDGEN:1835068 semapv:UnspecifiedMatching MONDO:0006066 acinar prostate adenocarcinoma, foamy gland variant skos:exactMatch NCIT:C39882 Prostate Acinar Foamy Gland Adenocarcinoma semapv:UnspecifiedMatching MONDO:0006066 acinar prostate adenocarcinoma, foamy gland variant skos:exactMatch UMLS:C5787290 semapv:UnspecifiedMatching MONDO:0006067 acinar prostate mucinous adenocarcinoma skos:exactMatch DOID:3703 prostate colloid adenocarcinoma semapv:UnspecifiedMatching MONDO:0006067 acinar prostate mucinous adenocarcinoma skos:exactMatch EFO:1000065 semapv:UnspecifiedMatching MONDO:0006067 acinar prostate mucinous adenocarcinoma skos:exactMatch MEDGEN:277536 semapv:UnspecifiedMatching MONDO:0006067 acinar prostate mucinous adenocarcinoma skos:exactMatch NCIT:C5537 Prostate Acinar Mucinous Adenocarcinoma semapv:UnspecifiedMatching MONDO:0006067 acinar prostate mucinous adenocarcinoma skos:exactMatch UMLS:C1335513 semapv:UnspecifiedMatching MONDO:0006068 ACTH-producing pituitary gland adenoma skos:exactMatch EFO:1000066 semapv:UnspecifiedMatching MONDO:0006068 ACTH-producing pituitary gland adenoma skos:exactMatch MEDGEN:266291 semapv:UnspecifiedMatching MONDO:0006068 ACTH-producing pituitary gland adenoma skos:exactMatch NCIT:C7462 Corticotroph Pituitary Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO:0006068 ACTH-producing pituitary gland adenoma skos:exactMatch UMLS:C1306214 semapv:UnspecifiedMatching MONDO:0006069 ACTH-producing pituitary gland carcinoma skos:exactMatch DOID:6276 malignant ACTH producing neoplasm of pituitary gland semapv:UnspecifiedMatching MONDO:0006069 ACTH-producing pituitary gland carcinoma skos:exactMatch EFO:1000067 semapv:UnspecifiedMatching MONDO:0006069 ACTH-producing pituitary gland carcinoma skos:exactMatch MEDGEN:233657 semapv:UnspecifiedMatching MONDO:0006069 ACTH-producing pituitary gland carcinoma skos:exactMatch NCIT:C5964 Metastatic Corticotroph Pituitary Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO:0006069 ACTH-producing pituitary gland carcinoma skos:exactMatch UMLS:C1334556 semapv:UnspecifiedMatching MONDO:0006071 adenofibroma skos:exactMatch DOID:2683 adenofibroma semapv:UnspecifiedMatching MONDO:0006071 adenofibroma skos:exactMatch EFO:1000070 semapv:UnspecifiedMatching MONDO:0006071 adenofibroma skos:exactMatch MEDGEN:1325 semapv:UnspecifiedMatching MONDO:0006071 adenofibroma skos:exactMatch NCIT:C8984 Female Reproductive System Adenofibroma semapv:UnspecifiedMatching MONDO:0006071 adenofibroma skos:exactMatch UMLS:C0001422 semapv:UnspecifiedMatching MONDO:0006071 adenofibroma skos:exactMatch mesh:D000232 semapv:UnspecifiedMatching MONDO:0006073 adenomatoid odontogenic tumor skos:exactMatch EFO:1000072 semapv:UnspecifiedMatching MONDO:0006073 adenomatoid odontogenic tumor skos:exactMatch MEDGEN:137782 semapv:UnspecifiedMatching MONDO:0006073 adenomatoid odontogenic tumor skos:exactMatch NCIT:C4310 Adenomatoid Odontogenic Tumor semapv:UnspecifiedMatching MONDO:0006073 adenomatoid odontogenic tumor skos:exactMatch UMLS:C0334565 semapv:UnspecifiedMatching MONDO:0006073 adenomatoid odontogenic tumor skos:exactMatch mesh:C538229 semapv:UnspecifiedMatching MONDO:0006074 adenosquamous carcinoma skos:exactMatch DOID:4830 adenosquamous carcinoma semapv:UnspecifiedMatching MONDO:0006074 adenosquamous carcinoma skos:exactMatch EFO:1000073 semapv:UnspecifiedMatching MONDO:0006074 adenosquamous carcinoma skos:exactMatch MEDGEN:104901 semapv:UnspecifiedMatching MONDO:0006074 adenosquamous carcinoma skos:exactMatch NCIT:C3727 Adenosquamous Carcinoma semapv:UnspecifiedMatching MONDO:0006074 adenosquamous carcinoma skos:exactMatch SCTID:403902008 semapv:UnspecifiedMatching MONDO:0006074 adenosquamous carcinoma skos:exactMatch UMLS:C0206623 semapv:UnspecifiedMatching MONDO:0006074 adenosquamous carcinoma skos:exactMatch icd11.foundation:1793155313 semapv:UnspecifiedMatching MONDO:0006074 adenosquamous carcinoma skos:exactMatch mesh:D018196 semapv:UnspecifiedMatching MONDO:0006075 adrenal gland myelolipoma skos:exactMatch EFO:1000074 semapv:UnspecifiedMatching MONDO:0006075 adrenal gland myelolipoma skos:exactMatch MEDGEN:64623 semapv:UnspecifiedMatching MONDO:0006075 adrenal gland myelolipoma skos:exactMatch NCIT:C3736 Adrenal Gland Myelolipoma semapv:UnspecifiedMatching MONDO:0006075 adrenal gland myelolipoma skos:exactMatch SCTID:719049003 semapv:UnspecifiedMatching MONDO:0006075 adrenal gland myelolipoma skos:exactMatch UMLS:C0206635 semapv:UnspecifiedMatching MONDO:0006075 adrenal gland myelolipoma skos:exactMatch mesh:D018209 semapv:UnspecifiedMatching MONDO:0006076 adrenal gland neuroblastoma skos:exactMatch DOID:5718 adrenal neuroblastoma semapv:UnspecifiedMatching MONDO:0006076 adrenal gland neuroblastoma skos:exactMatch EFO:1000075 semapv:UnspecifiedMatching MONDO:0006076 adrenal gland neuroblastoma skos:exactMatch MEDGEN:154328 semapv:UnspecifiedMatching MONDO:0006076 adrenal gland neuroblastoma skos:exactMatch NCIT:C4827 Adrenal Gland Neuroblastoma semapv:UnspecifiedMatching MONDO:0006076 adrenal gland neuroblastoma skos:exactMatch SCTID:281562007 semapv:UnspecifiedMatching MONDO:0006076 adrenal gland neuroblastoma skos:exactMatch UMLS:C0559460 semapv:UnspecifiedMatching MONDO:0006077 adrenal medullary hyperplasia skos:exactMatch EFO:1000076 semapv:UnspecifiedMatching MONDO:0006077 adrenal medullary hyperplasia skos:exactMatch MEDGEN:231356 semapv:UnspecifiedMatching MONDO:0006077 adrenal medullary hyperplasia skos:exactMatch NCIT:C35838 Adrenal Medullary Hyperplasia semapv:UnspecifiedMatching MONDO:0006077 adrenal medullary hyperplasia skos:exactMatch Orphanet:688649 Isolated adrenal medullary hyperplasia semapv:UnspecifiedMatching MONDO:0006077 adrenal medullary hyperplasia skos:exactMatch UMLS:C1332177 semapv:UnspecifiedMatching MONDO:0006078 AIDS-related primary central nervous system lymphoma skos:exactMatch EFO:1000077 semapv:UnspecifiedMatching MONDO:0006078 AIDS-related primary central nervous system lymphoma skos:exactMatch MEDGEN:79263 semapv:UnspecifiedMatching MONDO:0006078 AIDS-related primary central nervous system lymphoma skos:exactMatch NCIT:C8284 AIDS-Related Primary Central Nervous System Lymphoma semapv:UnspecifiedMatching MONDO:0006078 AIDS-related primary central nervous system lymphoma skos:exactMatch UMLS:C0281241 semapv:UnspecifiedMatching MONDO:0006079 ameloblastic carcinoma skos:exactMatch EFO:1000078 semapv:UnspecifiedMatching MONDO:0006079 ameloblastic carcinoma skos:exactMatch MEDGEN:231088 semapv:UnspecifiedMatching MONDO:0006079 ameloblastic carcinoma skos:exactMatch NCIT:C7492 Ameloblastic Carcinoma semapv:UnspecifiedMatching MONDO:0006079 ameloblastic carcinoma skos:exactMatch Orphanet:314422 Ameloblastic carcinoma semapv:UnspecifiedMatching MONDO:0006079 ameloblastic carcinoma skos:exactMatch UMLS:C1314678 semapv:UnspecifiedMatching MONDO:0006081 anal melanoma skos:exactMatch DOID:14145 malignant anus melanoma semapv:UnspecifiedMatching MONDO:0006081 anal melanoma skos:exactMatch EFO:1000080 semapv:UnspecifiedMatching MONDO:0006081 anal melanoma skos:exactMatch MEDGEN:91151 semapv:UnspecifiedMatching MONDO:0006081 anal melanoma skos:exactMatch NCIT:C4639 Anal Melanoma semapv:UnspecifiedMatching MONDO:0006081 anal melanoma skos:exactMatch SCTID:276821000 semapv:UnspecifiedMatching MONDO:0006081 anal melanoma skos:exactMatch UMLS:C0349538 semapv:UnspecifiedMatching MONDO:0006082 anal squamous cell carcinoma skos:exactMatch DOID:5525 anal squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0006082 anal squamous cell carcinoma skos:exactMatch EFO:1000081 semapv:UnspecifiedMatching MONDO:0006082 anal squamous cell carcinoma skos:exactMatch MEDGEN:237257 semapv:UnspecifiedMatching MONDO:0006082 anal squamous cell carcinoma skos:exactMatch NCIT:C9161 Anal Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0006082 anal squamous cell carcinoma skos:exactMatch UMLS:C1412036 semapv:UnspecifiedMatching MONDO:0006085 angiolipoma skos:exactMatch DOID:3616 angiolipoma semapv:UnspecifiedMatching MONDO:0006085 angiolipoma skos:exactMatch EFO:1000085 semapv:UnspecifiedMatching MONDO:0006085 angiolipoma skos:exactMatch MEDGEN:64621 semapv:UnspecifiedMatching MONDO:0006085 angiolipoma skos:exactMatch NCIT:C3733 Angiolipoma semapv:UnspecifiedMatching MONDO:0006085 angiolipoma skos:exactMatch SCTID:404057003 semapv:UnspecifiedMatching MONDO:0006085 angiolipoma skos:exactMatch UMLS:C0206632 semapv:UnspecifiedMatching MONDO:0006085 angiolipoma skos:exactMatch mesh:D018206 semapv:UnspecifiedMatching MONDO:0006086 angiomyxoma skos:exactMatch EFO:1000087 semapv:UnspecifiedMatching MONDO:0006086 angiomyxoma skos:exactMatch MEDGEN:1790210 semapv:UnspecifiedMatching MONDO:0006086 angiomyxoma skos:exactMatch SCTID:404083008 semapv:UnspecifiedMatching MONDO:0006086 angiomyxoma skos:exactMatch UMLS:C5551004 semapv:UnspecifiedMatching MONDO:0006087 appendix adenocarcinoma skos:exactMatch DOID:3608 appendix adenocarcinoma semapv:UnspecifiedMatching MONDO:0006087 appendix adenocarcinoma skos:exactMatch EFO:1000088 semapv:UnspecifiedMatching MONDO:0006087 appendix adenocarcinoma skos:exactMatch MEDGEN:65942 semapv:UnspecifiedMatching MONDO:0006087 appendix adenocarcinoma skos:exactMatch NCIT:C7718 Appendix Adenocarcinoma semapv:UnspecifiedMatching MONDO:0006087 appendix adenocarcinoma skos:exactMatch SCTID:413445002 semapv:UnspecifiedMatching MONDO:0006087 appendix adenocarcinoma skos:exactMatch UMLS:C0238003 semapv:UnspecifiedMatching MONDO:0006087 appendix adenocarcinoma skos:exactMatch icd11.foundation:1696330825 Adenocarcinoma of appendix semapv:UnspecifiedMatching MONDO:0006088 appendix adenoma skos:exactMatch EFO:1000089 semapv:UnspecifiedMatching MONDO:0006088 appendix adenoma skos:exactMatch MEDGEN:312900 semapv:UnspecifiedMatching MONDO:0006088 appendix adenoma skos:exactMatch NCIT:C43550 Appendix Adenoma semapv:UnspecifiedMatching MONDO:0006088 appendix adenoma skos:exactMatch UMLS:C1706829 semapv:UnspecifiedMatching MONDO:0006090 appendix hyperplastic polyp skos:exactMatch MEDGEN:474394 semapv:UnspecifiedMatching MONDO:0006090 appendix hyperplastic polyp skos:exactMatch NCIT:C96416 Appendix Hyperplastic Polyp semapv:UnspecifiedMatching MONDO:0006090 appendix hyperplastic polyp skos:exactMatch UMLS:C3272761 semapv:UnspecifiedMatching MONDO:0006091 appendix neuroendocrine tumor G1 skos:exactMatch DOID:0050911 appendix carcinoid tumor semapv:UnspecifiedMatching MONDO:0006091 appendix neuroendocrine tumor G1 skos:exactMatch EFO:1000092 semapv:UnspecifiedMatching MONDO:0006091 appendix neuroendocrine tumor G1 skos:exactMatch MEDGEN:90758 semapv:UnspecifiedMatching MONDO:0006091 appendix neuroendocrine tumor G1 skos:exactMatch NCIT:C4138 Appendix Neuroendocrine Tumor G1 semapv:UnspecifiedMatching MONDO:0006091 appendix neuroendocrine tumor G1 skos:exactMatch SCTID:253002004 semapv:UnspecifiedMatching MONDO:0006091 appendix neuroendocrine tumor G1 skos:exactMatch UMLS:C0334298 semapv:UnspecifiedMatching MONDO:0006092 appendix villous adenoma skos:exactMatch EFO:1000093 semapv:UnspecifiedMatching MONDO:0006092 appendix villous adenoma skos:exactMatch MEDGEN:233993 semapv:UnspecifiedMatching MONDO:0006092 appendix villous adenoma skos:exactMatch NCIT:C5512 Appendix Villous Adenoma semapv:UnspecifiedMatching MONDO:0006092 appendix villous adenoma skos:exactMatch UMLS:C1332329 semapv:UnspecifiedMatching MONDO:0006093 ascending colon neuroendocrine tumor G1 skos:exactMatch MEDGEN:231386 semapv:UnspecifiedMatching MONDO:0006093 ascending colon neuroendocrine tumor G1 skos:exactMatch NCIT:C6427 Ascending Colon Neuroendocrine Tumor G1 semapv:UnspecifiedMatching MONDO:0006093 ascending colon neuroendocrine tumor G1 skos:exactMatch UMLS:C1332340 semapv:UnspecifiedMatching MONDO:0006094 Askin tumor skos:exactMatch DOID:0050608 Askin's tumor semapv:UnspecifiedMatching MONDO:0006094 Askin tumor skos:exactMatch EFO:1000095 semapv:UnspecifiedMatching MONDO:0006094 Askin tumor skos:exactMatch MEDGEN:209112 semapv:UnspecifiedMatching MONDO:0006094 Askin tumor skos:exactMatch NCIT:C7542 Askin Tumor semapv:UnspecifiedMatching MONDO:0006094 Askin tumor skos:exactMatch UMLS:C0877849 semapv:UnspecifiedMatching MONDO:0006094 Askin tumor skos:exactMatch mesh:C563168 semapv:UnspecifiedMatching MONDO:0006095 atypical carcinoid tumor skos:exactMatch EFO:1000097 semapv:UnspecifiedMatching MONDO:0006095 atypical carcinoid tumor skos:exactMatch MEDGEN:226834 semapv:UnspecifiedMatching MONDO:0006095 atypical carcinoid tumor skos:exactMatch NCIT:C72074 Neuroendocrine Tumor G2 semapv:UnspecifiedMatching MONDO:0006095 atypical carcinoid tumor skos:exactMatch SCTID:445238008 semapv:UnspecifiedMatching MONDO:0006095 atypical carcinoid tumor skos:exactMatch UMLS:C1266032 semapv:UnspecifiedMatching MONDO:0006096 atypical endometrial hyperplasia skos:exactMatch EFO:1000098 semapv:UnspecifiedMatching MONDO:0006096 atypical endometrial hyperplasia skos:exactMatch MEDGEN:138105 semapv:UnspecifiedMatching MONDO:0006096 atypical endometrial hyperplasia skos:exactMatch SCTID:277158007 semapv:UnspecifiedMatching MONDO:0006096 atypical endometrial hyperplasia skos:exactMatch UMLS:C0349579 semapv:UnspecifiedMatching MONDO:0006097 atypical lipomatous tumor skos:exactMatch DOID:5690 well-differentiated liposarcoma semapv:UnspecifiedMatching MONDO:0006097 atypical lipomatous tumor skos:exactMatch EFO:1000099 semapv:UnspecifiedMatching MONDO:0006097 atypical lipomatous tumor skos:exactMatch MEDGEN:266102 semapv:UnspecifiedMatching MONDO:0006097 atypical lipomatous tumor skos:exactMatch NCIT:C6505 Atypical Lipomatous Tumor/Well Differentiated Liposarcoma semapv:UnspecifiedMatching MONDO:0006097 atypical lipomatous tumor skos:exactMatch UMLS:C1266129 semapv:UnspecifiedMatching MONDO:0006098 atypical lobular breast hyperplasia skos:exactMatch EFO:1000100 semapv:UnspecifiedMatching MONDO:0006098 atypical lobular breast hyperplasia skos:exactMatch MEDGEN:277968 semapv:UnspecifiedMatching MONDO:0006098 atypical lobular breast hyperplasia skos:exactMatch NCIT:C4730 Breast Atypical Lobular Hyperplasia semapv:UnspecifiedMatching MONDO:0006098 atypical lobular breast hyperplasia skos:exactMatch SCTID:450697004 semapv:UnspecifiedMatching MONDO:0006098 atypical lobular breast hyperplasia skos:exactMatch UMLS:C1368920 semapv:UnspecifiedMatching MONDO:0006102 basaloid carcinoma skos:exactMatch EFO:1000105 semapv:UnspecifiedMatching MONDO:0006102 basaloid carcinoma skos:exactMatch MEDGEN:316439 semapv:UnspecifiedMatching MONDO:0006102 basaloid carcinoma skos:exactMatch NCIT:C4121 Basaloid Carcinoma semapv:UnspecifiedMatching MONDO:0006102 basaloid carcinoma skos:exactMatch UMLS:C1704216 semapv:UnspecifiedMatching MONDO:0006103 benign adrenal gland pheochromocytoma skos:exactMatch EFO:1000106 semapv:UnspecifiedMatching MONDO:0006103 benign adrenal gland pheochromocytoma skos:exactMatch MEDGEN:317403 semapv:UnspecifiedMatching MONDO:0006103 benign adrenal gland pheochromocytoma skos:exactMatch NCIT:C48305 Non-Metastatic Adrenal Gland Pheochromocytoma semapv:UnspecifiedMatching MONDO:0006103 benign adrenal gland pheochromocytoma skos:exactMatch UMLS:C1706920 semapv:UnspecifiedMatching MONDO:0006104 benign carotid body paraganglioma skos:exactMatch EFO:1000108 semapv:UnspecifiedMatching MONDO:0006104 benign carotid body paraganglioma skos:exactMatch MEDGEN:396868 semapv:UnspecifiedMatching MONDO:0006104 benign carotid body paraganglioma skos:exactMatch NCIT:C79950 Non-Metastatic Carotid Body Paraganglioma semapv:UnspecifiedMatching MONDO:0006104 benign carotid body paraganglioma skos:exactMatch UMLS:C2698359 semapv:UnspecifiedMatching MONDO:0006105 benign conjunctival neoplasm skos:exactMatch EFO:1000110 semapv:UnspecifiedMatching MONDO:0006105 benign conjunctival neoplasm skos:exactMatch ICD10CM:D31.0 Benign neoplasm of conjunctiva semapv:UnspecifiedMatching MONDO:0006105 benign conjunctival neoplasm skos:exactMatch MEDGEN:56328 semapv:UnspecifiedMatching MONDO:0006105 benign conjunctival neoplasm skos:exactMatch NCIT:C3622 Benign Conjunctival Neoplasm semapv:UnspecifiedMatching MONDO:0006105 benign conjunctival neoplasm skos:exactMatch SCTID:92068002 semapv:UnspecifiedMatching MONDO:0006105 benign conjunctival neoplasm skos:exactMatch UMLS:C0154025 semapv:UnspecifiedMatching MONDO:0006106 benign smooth muscle neoplasm skos:exactMatch EFO:1000121 semapv:UnspecifiedMatching MONDO:0006106 benign smooth muscle neoplasm skos:exactMatch NCIT:C6510 Leiomyoma semapv:UnspecifiedMatching MONDO:0006107 benign thyroid gland neoplasm skos:exactMatch EFO:1000122 semapv:UnspecifiedMatching MONDO:0006107 benign thyroid gland neoplasm skos:exactMatch ICD10CM:D34 Benign neoplasm of thyroid gland semapv:UnspecifiedMatching MONDO:0006107 benign thyroid gland neoplasm skos:exactMatch MEDGEN:102306 semapv:UnspecifiedMatching MONDO:0006107 benign thyroid gland neoplasm skos:exactMatch NCIT:C3628 Benign Thyroid Gland Neoplasm semapv:UnspecifiedMatching MONDO:0006107 benign thyroid gland neoplasm skos:exactMatch SCTID:92439006 semapv:UnspecifiedMatching MONDO:0006107 benign thyroid gland neoplasm skos:exactMatch UMLS:C0154038 semapv:UnspecifiedMatching MONDO:0006108 bile duct adenoma skos:exactMatch DOID:5381 bile duct adenoma semapv:UnspecifiedMatching MONDO:0006108 bile duct adenoma skos:exactMatch EFO:1000123 semapv:UnspecifiedMatching MONDO:0006108 bile duct adenoma skos:exactMatch MEDGEN:918 semapv:UnspecifiedMatching MONDO:0006108 bile duct adenoma skos:exactMatch NCIT:C2942 Bile Duct Adenoma semapv:UnspecifiedMatching MONDO:0006108 bile duct adenoma skos:exactMatch SCTID:424091006 semapv:UnspecifiedMatching MONDO:0006108 bile duct adenoma skos:exactMatch UMLS:C0008309 semapv:UnspecifiedMatching MONDO:0006108 bile duct adenoma skos:exactMatch mesh:D002759 semapv:UnspecifiedMatching MONDO:0006109 malignant biphasic mesothelioma skos:exactMatch DOID:4486 malignant biphasic mesothelioma semapv:UnspecifiedMatching MONDO:0006109 malignant biphasic mesothelioma skos:exactMatch EFO:1000124 semapv:UnspecifiedMatching MONDO:0006109 malignant biphasic mesothelioma skos:exactMatch MEDGEN:137775 semapv:UnspecifiedMatching MONDO:0006109 malignant biphasic mesothelioma skos:exactMatch NCIT:C4282 Biphasic Mesothelioma semapv:UnspecifiedMatching MONDO:0006109 malignant biphasic mesothelioma skos:exactMatch UMLS:C0334515 semapv:UnspecifiedMatching MONDO:0006111 bladder flat intraepithelial lesion skos:exactMatch DOID:5429 bladder flat intraepithelial lesion semapv:UnspecifiedMatching MONDO:0006111 bladder flat intraepithelial lesion skos:exactMatch EFO:1000126 semapv:UnspecifiedMatching MONDO:0006111 bladder flat intraepithelial lesion skos:exactMatch MEDGEN:231947 semapv:UnspecifiedMatching MONDO:0006111 bladder flat intraepithelial lesion skos:exactMatch NCIT:C37266 Bladder Flat Urothelial Carcinoma In Situ semapv:UnspecifiedMatching MONDO:0006111 bladder flat intraepithelial lesion skos:exactMatch UMLS:C1332559 semapv:UnspecifiedMatching MONDO:0006112 bladder inflammatory myofibroblastic tumor skos:exactMatch EFO:1000127 semapv:UnspecifiedMatching MONDO:0006112 bladder inflammatory myofibroblastic tumor skos:exactMatch MEDGEN:237036 semapv:UnspecifiedMatching MONDO:0006112 bladder inflammatory myofibroblastic tumor skos:exactMatch NCIT:C6177 Bladder Inflammatory Myofibroblastic Tumor semapv:UnspecifiedMatching MONDO:0006112 bladder inflammatory myofibroblastic tumor skos:exactMatch UMLS:C1336891 semapv:UnspecifiedMatching MONDO:0006115 blast phase chronic myelogenous leukemia, BCR-ABL1 positive skos:exactMatch EFO:1000131 semapv:UnspecifiedMatching MONDO:0006115 blast phase chronic myelogenous leukemia, BCR-ABL1 positive skos:exactMatch MEDGEN:2281 semapv:UnspecifiedMatching MONDO:0006115 blast phase chronic myelogenous leukemia, BCR-ABL1 positive skos:exactMatch NCIT:C9110 Blast Phase Chronic Myeloid Leukemia, BCR-ABL1 Positive semapv:UnspecifiedMatching MONDO:0006115 blast phase chronic myelogenous leukemia, BCR-ABL1 positive skos:exactMatch SCTID:413656006 semapv:UnspecifiedMatching MONDO:0006115 blast phase chronic myelogenous leukemia, BCR-ABL1 positive skos:exactMatch UMLS:C0005699 semapv:UnspecifiedMatching MONDO:0006115 blast phase chronic myelogenous leukemia, BCR-ABL1 positive skos:exactMatch mesh:D001752 semapv:UnspecifiedMatching MONDO:0006116 breast carcinoma by gene expression profile skos:exactMatch EFO:1000143 semapv:UnspecifiedMatching MONDO:0006116 breast carcinoma by gene expression profile skos:exactMatch MEDGEN:770984 semapv:UnspecifiedMatching MONDO:0006116 breast carcinoma by gene expression profile skos:exactMatch NCIT:C53553 Breast Carcinoma by Gene Expression Profile semapv:UnspecifiedMatching MONDO:0006116 breast carcinoma by gene expression profile skos:exactMatch UMLS:C3642344 semapv:UnspecifiedMatching MONDO:0006117 breast diffuse large B-cell lymphoma skos:exactMatch EFO:1000144 semapv:UnspecifiedMatching MONDO:0006117 breast diffuse large B-cell lymphoma skos:exactMatch MEDGEN:267764 semapv:UnspecifiedMatching MONDO:0006117 breast diffuse large B-cell lymphoma skos:exactMatch NCIT:C40375 Breast Diffuse Large B-Cell Lymphoma semapv:UnspecifiedMatching MONDO:0006117 breast diffuse large B-cell lymphoma skos:exactMatch UMLS:C1511306 semapv:UnspecifiedMatching MONDO:0006118 breast fibrosis skos:exactMatch DOID:10353 fibrosclerosis of breast semapv:UnspecifiedMatching MONDO:0006118 breast fibrosis skos:exactMatch EFO:1000145 semapv:UnspecifiedMatching MONDO:0006118 breast fibrosis skos:exactMatch ICD10CM:N60.3 Fibrosclerosis of breast semapv:UnspecifiedMatching MONDO:0006118 breast fibrosis skos:exactMatch MEDGEN:57627 semapv:UnspecifiedMatching MONDO:0006118 breast fibrosis skos:exactMatch NCIT:C3660 Breast Fibrosis semapv:UnspecifiedMatching MONDO:0006118 breast fibrosis skos:exactMatch SCTID:29070004 semapv:UnspecifiedMatching MONDO:0006118 breast fibrosis skos:exactMatch UMLS:C0156318 semapv:UnspecifiedMatching MONDO:0006119 breast mucosa-associated lymphoid tissue lymphoma skos:exactMatch MEDGEN:234051 semapv:UnspecifiedMatching MONDO:0006119 breast mucosa-associated lymphoid tissue lymphoma skos:exactMatch NCIT:C35688 Breast Mucosa-Associated Lymphoid Tissue Lymphoma semapv:UnspecifiedMatching MONDO:0006119 breast mucosa-associated lymphoid tissue lymphoma skos:exactMatch UMLS:C1332633 semapv:UnspecifiedMatching MONDO:0006120 C-cell hyperplasia skos:exactMatch EFO:1000147 semapv:UnspecifiedMatching MONDO:0006120 C-cell hyperplasia skos:exactMatch MEDGEN:90975 semapv:UnspecifiedMatching MONDO:0006120 C-cell hyperplasia skos:exactMatch NCIT:C46100 C-Cell Hyperplasia semapv:UnspecifiedMatching MONDO:0006120 C-cell hyperplasia skos:exactMatch UMLS:C0342190 semapv:UnspecifiedMatching MONDO:0006121 calcifying fibrous tumor skos:exactMatch EFO:1000148 semapv:UnspecifiedMatching MONDO:0006121 calcifying fibrous tumor skos:exactMatch MEDGEN:232021 semapv:UnspecifiedMatching MONDO:0006121 calcifying fibrous tumor skos:exactMatch NCIT:C6488 Calcifying Fibrous Tumor semapv:UnspecifiedMatching MONDO:0006121 calcifying fibrous tumor skos:exactMatch UMLS:C1332833 semapv:UnspecifiedMatching MONDO:0006122 calcifying nested epithelial stromal tumor of the liver skos:exactMatch EFO:1000149 semapv:UnspecifiedMatching MONDO:0006122 calcifying nested epithelial stromal tumor of the liver skos:exactMatch MEDGEN:758637 semapv:UnspecifiedMatching MONDO:0006122 calcifying nested epithelial stromal tumor of the liver skos:exactMatch NCIT:C96830 Calcifying Nested Stromal-Epithelial Tumor semapv:UnspecifiedMatching MONDO:0006122 calcifying nested epithelial stromal tumor of the liver skos:exactMatch UMLS:C3472610 semapv:UnspecifiedMatching MONDO:0006123 cardiac rhabdomyoma skos:exactMatch EFO:1000150 semapv:UnspecifiedMatching MONDO:0006123 cardiac rhabdomyoma skos:exactMatch MEDGEN:232027 semapv:UnspecifiedMatching MONDO:0006123 cardiac rhabdomyoma skos:exactMatch NCIT:C6739 Cardiac Rhabdomyoma semapv:UnspecifiedMatching MONDO:0006123 cardiac rhabdomyoma skos:exactMatch UMLS:C1332852 semapv:UnspecifiedMatching MONDO:0006126 cecum neuroendocrine tumor G1 skos:exactMatch MEDGEN:167703 semapv:UnspecifiedMatching MONDO:0006126 cecum neuroendocrine tumor G1 skos:exactMatch NCIT:C5501 Cecum Neuroendocrine Tumor G1 semapv:UnspecifiedMatching MONDO:0006126 cecum neuroendocrine tumor G1 skos:exactMatch UMLS:C0854488 semapv:UnspecifiedMatching MONDO:0006128 central nervous system anaplastic large cell lymphoma skos:exactMatch EFO:1000156 semapv:UnspecifiedMatching MONDO:0006128 central nervous system anaplastic large cell lymphoma skos:exactMatch MEDGEN:235493 semapv:UnspecifiedMatching MONDO:0006128 central nervous system anaplastic large cell lymphoma skos:exactMatch NCIT:C5322 Primary Central Nervous System Anaplastic Large Cell Lymphoma semapv:UnspecifiedMatching MONDO:0006128 central nervous system anaplastic large cell lymphoma skos:exactMatch UMLS:C1335476 semapv:UnspecifiedMatching MONDO:0006130 central nervous system neoplasm skos:exactMatch EFO:1000158 semapv:UnspecifiedMatching MONDO:0006130 central nervous system neoplasm skos:exactMatch MEDGEN:88335 semapv:UnspecifiedMatching MONDO:0006130 central nervous system neoplasm skos:exactMatch NCIT:C9293 Central Nervous System Neoplasm semapv:UnspecifiedMatching MONDO:0006130 central nervous system neoplasm skos:exactMatch UMLS:C0085136 semapv:UnspecifiedMatching MONDO:0006131 cerebellar liponeurocytoma skos:exactMatch DOID:6458 cerebellar liponeurocytoma semapv:UnspecifiedMatching MONDO:0006131 cerebellar liponeurocytoma skos:exactMatch EFO:1000159 semapv:UnspecifiedMatching MONDO:0006131 cerebellar liponeurocytoma skos:exactMatch MEDGEN:237160 semapv:UnspecifiedMatching MONDO:0006131 cerebellar liponeurocytoma skos:exactMatch NCIT:C6905 Cerebellar Liponeurocytoma semapv:UnspecifiedMatching MONDO:0006131 cerebellar liponeurocytoma skos:exactMatch Orphanet:251931 Cerebellar liponeurocytoma semapv:UnspecifiedMatching MONDO:0006131 cerebellar liponeurocytoma skos:exactMatch SCTID:716592003 semapv:UnspecifiedMatching MONDO:0006131 cerebellar liponeurocytoma skos:exactMatch UMLS:C1370507 semapv:UnspecifiedMatching MONDO:0006132 cervical adenoid basal carcinoma skos:exactMatch DOID:6428 cervical adenoid basal carcinoma semapv:UnspecifiedMatching MONDO:0006132 cervical adenoid basal carcinoma skos:exactMatch EFO:1000160 semapv:UnspecifiedMatching MONDO:0006132 cervical adenoid basal carcinoma skos:exactMatch MEDGEN:275704 semapv:UnspecifiedMatching MONDO:0006132 cervical adenoid basal carcinoma skos:exactMatch NCIT:C40213 Cervical Adenoid Basal Carcinoma semapv:UnspecifiedMatching MONDO:0006132 cervical adenoid basal carcinoma skos:exactMatch Orphanet:213828 Adenoid basal carcinoma of the cervix uteri semapv:UnspecifiedMatching MONDO:0006132 cervical adenoid basal carcinoma skos:exactMatch UMLS:C1516403 semapv:UnspecifiedMatching MONDO:0006133 cervical adenoid cystic carcinoma skos:exactMatch DOID:4867 cervical adenoid cystic carcinoma semapv:UnspecifiedMatching MONDO:0006133 cervical adenoid cystic carcinoma skos:exactMatch EFO:1000161 semapv:UnspecifiedMatching MONDO:0006133 cervical adenoid cystic carcinoma skos:exactMatch MEDGEN:232337 semapv:UnspecifiedMatching MONDO:0006133 cervical adenoid cystic carcinoma skos:exactMatch NCIT:C6346 Cervical Adenoid Cystic Carcinoma semapv:UnspecifiedMatching MONDO:0006133 cervical adenoid cystic carcinoma skos:exactMatch Orphanet:213823 Adenoid cystic carcinoma of the cervix uteri semapv:UnspecifiedMatching MONDO:0006133 cervical adenoid cystic carcinoma skos:exactMatch UMLS:C1332911 semapv:UnspecifiedMatching MONDO:0006134 cervical adenosquamous carcinoma skos:exactMatch DOID:5636 cervical adenosquamous carcinoma semapv:UnspecifiedMatching MONDO:0006134 cervical adenosquamous carcinoma skos:exactMatch EFO:1000162 semapv:UnspecifiedMatching MONDO:0006134 cervical adenosquamous carcinoma skos:exactMatch MEDGEN:91091 semapv:UnspecifiedMatching MONDO:0006134 cervical adenosquamous carcinoma skos:exactMatch NCIT:C4519 Cervical Adenosquamous Carcinoma semapv:UnspecifiedMatching MONDO:0006134 cervical adenosquamous carcinoma skos:exactMatch SCTID:254888007 semapv:UnspecifiedMatching MONDO:0006134 cervical adenosquamous carcinoma skos:exactMatch UMLS:C0346202 semapv:UnspecifiedMatching MONDO:0006135 cervical clear cell adenocarcinoma skos:exactMatch DOID:5303 cervical clear cell adenocarcinoma semapv:UnspecifiedMatching MONDO:0006135 cervical clear cell adenocarcinoma skos:exactMatch EFO:1000163 semapv:UnspecifiedMatching MONDO:0006135 cervical clear cell adenocarcinoma skos:exactMatch MEDGEN:234113 semapv:UnspecifiedMatching MONDO:0006135 cervical clear cell adenocarcinoma skos:exactMatch NCIT:C6344 Human Papillomavirus-Independent Cervical Adenocarcinoma, Clear Cell-Type semapv:UnspecifiedMatching MONDO:0006135 cervical clear cell adenocarcinoma skos:exactMatch UMLS:C1332912 semapv:UnspecifiedMatching MONDO:0006137 cervical intraepithelial neoplasia grade 2/3 skos:exactMatch EFO:1000166 semapv:UnspecifiedMatching MONDO:0006137 cervical intraepithelial neoplasia grade 2/3 skos:exactMatch MEDGEN:458848 semapv:UnspecifiedMatching MONDO:0006137 cervical intraepithelial neoplasia grade 2/3 skos:exactMatch NCIT:C94676 Cervical Intraepithelial Neoplasia Grade 2/3 semapv:UnspecifiedMatching MONDO:0006137 cervical intraepithelial neoplasia grade 2/3 skos:exactMatch UMLS:C2986622 semapv:UnspecifiedMatching MONDO:0006138 cervical large cell neuroendocrine carcinoma skos:exactMatch DOID:6659 cervical large cell neuroendocrine carcinoma semapv:UnspecifiedMatching MONDO:0006138 cervical large cell neuroendocrine carcinoma skos:exactMatch EFO:1000167 semapv:UnspecifiedMatching MONDO:0006138 cervical large cell neuroendocrine carcinoma skos:exactMatch MEDGEN:275711 semapv:UnspecifiedMatching MONDO:0006138 cervical large cell neuroendocrine carcinoma skos:exactMatch NCIT:C40214 Cervical Large Cell Neuroendocrine Carcinoma semapv:UnspecifiedMatching MONDO:0006138 cervical large cell neuroendocrine carcinoma skos:exactMatch UMLS:C1516417 semapv:UnspecifiedMatching MONDO:0006139 cervical metaplasia skos:exactMatch EFO:1000168 semapv:UnspecifiedMatching MONDO:0006139 cervical metaplasia skos:exactMatch MEDGEN:129096 semapv:UnspecifiedMatching MONDO:0006139 cervical metaplasia skos:exactMatch UMLS:C0281796 semapv:UnspecifiedMatching MONDO:0006140 cervical mucinous adenocarcinoma, minimal deviation variant skos:exactMatch DOID:6627 cervical adenoma malignum semapv:UnspecifiedMatching MONDO:0006140 cervical mucinous adenocarcinoma, minimal deviation variant skos:exactMatch EFO:1000169 semapv:UnspecifiedMatching MONDO:0006140 cervical mucinous adenocarcinoma, minimal deviation variant skos:exactMatch MEDGEN:273125 semapv:UnspecifiedMatching MONDO:0006140 cervical mucinous adenocarcinoma, minimal deviation variant skos:exactMatch NCIT:C40206 Human Papillomavirus-Independent Cervical Adenocarcinoma, Gastric-Type semapv:UnspecifiedMatching MONDO:0006140 cervical mucinous adenocarcinoma, minimal deviation variant skos:exactMatch UMLS:C1516423 semapv:UnspecifiedMatching MONDO:0006141 cervical villoglandular adenocarcinoma skos:exactMatch DOID:8338 villoglandular variant cervical mucinous adenocarcinoma semapv:UnspecifiedMatching MONDO:0006141 cervical villoglandular adenocarcinoma skos:exactMatch MEDGEN:927340 semapv:UnspecifiedMatching MONDO:0006141 cervical villoglandular adenocarcinoma skos:exactMatch NCIT:C40208 Cervical Villoglandular Adenocarcinoma semapv:UnspecifiedMatching MONDO:0006141 cervical villoglandular adenocarcinoma skos:exactMatch UMLS:C4289808 semapv:UnspecifiedMatching MONDO:0006142 cervical small cell carcinoma skos:exactMatch DOID:6740 cervix small cell carcinoma semapv:UnspecifiedMatching MONDO:0006142 cervical small cell carcinoma skos:exactMatch EFO:1000171 semapv:UnspecifiedMatching MONDO:0006142 cervical small cell carcinoma skos:exactMatch MEDGEN:79025 semapv:UnspecifiedMatching MONDO:0006142 cervical small cell carcinoma skos:exactMatch NCIT:C7982 Cervical Small Cell Neuroendocrine Carcinoma semapv:UnspecifiedMatching MONDO:0006142 cervical small cell carcinoma skos:exactMatch UMLS:C0279674 semapv:UnspecifiedMatching MONDO:0006143 cervical squamous cell carcinoma skos:exactMatch DOID:3744 cervical squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0006143 cervical squamous cell carcinoma skos:exactMatch EFO:1000172 semapv:UnspecifiedMatching MONDO:0006143 cervical squamous cell carcinoma skos:exactMatch MEDGEN:124644 semapv:UnspecifiedMatching MONDO:0006143 cervical squamous cell carcinoma skos:exactMatch NCIT:C4028 Cervical Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0006143 cervical squamous cell carcinoma skos:exactMatch Orphanet:213767 Squamous cell carcinoma of the cervix uteri semapv:UnspecifiedMatching MONDO:0006143 cervical squamous cell carcinoma skos:exactMatch SCTID:254886006 semapv:UnspecifiedMatching MONDO:0006143 cervical squamous cell carcinoma skos:exactMatch UMLS:C0279671 semapv:UnspecifiedMatching MONDO:0006143 cervical squamous cell carcinoma skos:exactMatch icd11.foundation:1544785014 Squamous cell carcinoma of cervix uteri semapv:UnspecifiedMatching MONDO:0006144 cervical Wilms tumor skos:exactMatch DOID:5190 cervical Wilms' tumor semapv:UnspecifiedMatching MONDO:0006144 cervical Wilms tumor skos:exactMatch MEDGEN:273129 semapv:UnspecifiedMatching MONDO:0006144 cervical Wilms tumor skos:exactMatch NCIT:C40236 Cervical Wilms Tumor semapv:UnspecifiedMatching MONDO:0006144 cervical Wilms tumor skos:exactMatch UMLS:C1516437 semapv:UnspecifiedMatching MONDO:0006145 chondroid chordoma skos:exactMatch DOID:4152 chondroid chordoma semapv:UnspecifiedMatching MONDO:0006145 chondroid chordoma skos:exactMatch EFO:1000174 semapv:UnspecifiedMatching MONDO:0006145 chondroid chordoma skos:exactMatch MEDGEN:224768 semapv:UnspecifiedMatching MONDO:0006145 chondroid chordoma skos:exactMatch NCIT:C6902 Chondroid Chordoma semapv:UnspecifiedMatching MONDO:0006145 chondroid chordoma skos:exactMatch UMLS:C1266173 semapv:UnspecifiedMatching MONDO:0006146 chondroid hamartoma skos:exactMatch EFO:1000175 semapv:UnspecifiedMatching MONDO:0006146 chondroid hamartoma skos:exactMatch MEDGEN:313028 semapv:UnspecifiedMatching MONDO:0006146 chondroid hamartoma skos:exactMatch NCIT:C42589 Chondroid Hamartoma semapv:UnspecifiedMatching MONDO:0006146 chondroid hamartoma skos:exactMatch UMLS:C1707390 semapv:UnspecifiedMatching MONDO:0006149 clear cell papillary cystadenoma skos:exactMatch EFO:1000181 semapv:UnspecifiedMatching MONDO:0006149 clear cell papillary cystadenoma skos:exactMatch MEDGEN:361270 semapv:UnspecifiedMatching MONDO:0006149 clear cell papillary cystadenoma skos:exactMatch NCIT:C65203 Clear Cell Papillary Cystadenoma semapv:UnspecifiedMatching MONDO:0006149 clear cell papillary cystadenoma skos:exactMatch UMLS:C1880102 semapv:UnspecifiedMatching MONDO:0006150 colon Burkitt lymphoma skos:exactMatch MEDGEN:272491 semapv:UnspecifiedMatching MONDO:0006150 colon Burkitt lymphoma skos:exactMatch NCIT:C27465 Colon Burkitt Lymphoma semapv:UnspecifiedMatching MONDO:0006150 colon Burkitt lymphoma skos:exactMatch UMLS:C1333083 semapv:UnspecifiedMatching MONDO:0006151 colon dysplasia skos:exactMatch EFO:1000183 semapv:UnspecifiedMatching MONDO:0006151 colon dysplasia skos:exactMatch MEDGEN:224903 semapv:UnspecifiedMatching MONDO:0006151 colon dysplasia skos:exactMatch NCIT:C4847 Colon Dysplasia semapv:UnspecifiedMatching MONDO:0006151 colon dysplasia skos:exactMatch SCTID:308870004 semapv:UnspecifiedMatching MONDO:0006151 colon dysplasia skos:exactMatch UMLS:C1302363 semapv:UnspecifiedMatching MONDO:0006152 colon inflammatory polyp skos:exactMatch EFO:1000184 semapv:UnspecifiedMatching MONDO:0006152 colon inflammatory polyp skos:exactMatch MEDGEN:78627 semapv:UnspecifiedMatching MONDO:0006152 colon inflammatory polyp skos:exactMatch NCIT:C5517 Colon Inflammatory Polyp semapv:UnspecifiedMatching MONDO:0006152 colon inflammatory polyp skos:exactMatch UMLS:C0267392 semapv:UnspecifiedMatching MONDO:0006153 colon juvenile polyp skos:exactMatch EFO:1000185 semapv:UnspecifiedMatching MONDO:0006153 colon juvenile polyp skos:exactMatch MEDGEN:234160 semapv:UnspecifiedMatching MONDO:0006153 colon juvenile polyp skos:exactMatch NCIT:C5518 Colon Juvenile Polyp semapv:UnspecifiedMatching MONDO:0006153 colon juvenile polyp skos:exactMatch UMLS:C1333090 semapv:UnspecifiedMatching MONDO:0006154 colon mucosa-associated lymphoid tissue lymphoma skos:exactMatch EFO:1000186 semapv:UnspecifiedMatching MONDO:0006154 colon mucosa-associated lymphoid tissue lymphoma skos:exactMatch MEDGEN:272492 semapv:UnspecifiedMatching MONDO:0006154 colon mucosa-associated lymphoid tissue lymphoma skos:exactMatch NCIT:C5498 Colon Mucosa-Associated Lymphoid Tissue Lymphoma semapv:UnspecifiedMatching MONDO:0006154 colon mucosa-associated lymphoid tissue lymphoma skos:exactMatch UMLS:C1333096 semapv:UnspecifiedMatching MONDO:0006155 colon neuroendocrine tumor G1 skos:exactMatch EFO:1000188 semapv:UnspecifiedMatching MONDO:0006155 colon neuroendocrine tumor G1 skos:exactMatch MEDGEN:234158 semapv:UnspecifiedMatching MONDO:0006155 colon neuroendocrine tumor G1 skos:exactMatch NCIT:C5497 Colon Neuroendocrine Tumor G1 semapv:UnspecifiedMatching MONDO:0006155 colon neuroendocrine tumor G1 skos:exactMatch UMLS:C1333084 semapv:UnspecifiedMatching MONDO:0006156 colon sessile serrated adenoma/polyp skos:exactMatch EFO:1000189 semapv:UnspecifiedMatching MONDO:0006156 colon sessile serrated adenoma/polyp skos:exactMatch MEDGEN:474424 semapv:UnspecifiedMatching MONDO:0006156 colon sessile serrated adenoma/polyp skos:exactMatch NCIT:C96464 Colon Serrated Lesions and Polyps semapv:UnspecifiedMatching MONDO:0006156 colon sessile serrated adenoma/polyp skos:exactMatch UMLS:C3272791 semapv:UnspecifiedMatching MONDO:0006157 colorectal adenosquamous carcinoma skos:exactMatch EFO:1000190 semapv:UnspecifiedMatching MONDO:0006157 colorectal adenosquamous carcinoma skos:exactMatch MEDGEN:317524 semapv:UnspecifiedMatching MONDO:0006157 colorectal adenosquamous carcinoma skos:exactMatch NCIT:C43589 Colorectal Adenosquamous Carcinoma semapv:UnspecifiedMatching MONDO:0006157 colorectal adenosquamous carcinoma skos:exactMatch UMLS:C1707437 semapv:UnspecifiedMatching MONDO:0006158 colorectal diffuse large B-cell lymphoma skos:exactMatch EFO:1000191 semapv:UnspecifiedMatching MONDO:0006158 colorectal diffuse large B-cell lymphoma skos:exactMatch MEDGEN:474460 semapv:UnspecifiedMatching MONDO:0006158 colorectal diffuse large B-cell lymphoma skos:exactMatch NCIT:C96503 Colorectal Diffuse Large B-Cell Lymphoma semapv:UnspecifiedMatching MONDO:0006158 colorectal diffuse large B-cell lymphoma skos:exactMatch UMLS:C3272827 semapv:UnspecifiedMatching MONDO:0006159 colorectal gastrointestinal stromal tumor skos:exactMatch EFO:1000192 semapv:UnspecifiedMatching MONDO:0006159 colorectal gastrointestinal stromal tumor skos:exactMatch MEDGEN:272496 semapv:UnspecifiedMatching MONDO:0006159 colorectal gastrointestinal stromal tumor skos:exactMatch NCIT:C27735 Colorectal Gastrointestinal Stromal Tumor semapv:UnspecifiedMatching MONDO:0006159 colorectal gastrointestinal stromal tumor skos:exactMatch UMLS:C1333109 semapv:UnspecifiedMatching MONDO:0006160 colorectal hamartoma skos:exactMatch EFO:1000193 semapv:UnspecifiedMatching MONDO:0006160 colorectal hamartoma skos:exactMatch MEDGEN:474434 semapv:UnspecifiedMatching MONDO:0006160 colorectal hamartoma skos:exactMatch NCIT:C96474 Colorectal Hamartoma semapv:UnspecifiedMatching MONDO:0006160 colorectal hamartoma skos:exactMatch UMLS:C3272801 semapv:UnspecifiedMatching MONDO:0006161 colorectal juvenile polyp skos:exactMatch EFO:1000194 semapv:UnspecifiedMatching MONDO:0006161 colorectal juvenile polyp skos:exactMatch MEDGEN:235116 semapv:UnspecifiedMatching MONDO:0006161 colorectal juvenile polyp skos:exactMatch NCIT:C5681 Colorectal Juvenile Polyp semapv:UnspecifiedMatching MONDO:0006161 colorectal juvenile polyp skos:exactMatch UMLS:C1377708 semapv:UnspecifiedMatching MONDO:0006162 colorectal neuroendocrine tumor G1 skos:exactMatch EFO:1000195 semapv:UnspecifiedMatching MONDO:0006162 colorectal neuroendocrine tumor G1 skos:exactMatch MEDGEN:474244 semapv:UnspecifiedMatching MONDO:0006162 colorectal neuroendocrine tumor G1 skos:exactMatch NCIT:C96160 Colorectal Neuroendocrine Tumor G1 semapv:UnspecifiedMatching MONDO:0006162 colorectal neuroendocrine tumor G1 skos:exactMatch UMLS:C3272611 semapv:UnspecifiedMatching MONDO:0006163 colorectal serrated adenocarcinoma skos:exactMatch EFO:1000196 semapv:UnspecifiedMatching MONDO:0006163 colorectal serrated adenocarcinoma skos:exactMatch MEDGEN:474442 semapv:UnspecifiedMatching MONDO:0006163 colorectal serrated adenocarcinoma skos:exactMatch NCIT:C96485 Colorectal Serrated Adenocarcinoma semapv:UnspecifiedMatching MONDO:0006163 colorectal serrated adenocarcinoma skos:exactMatch UMLS:C3272809 semapv:UnspecifiedMatching MONDO:0006164 colorectal sessile serrated adenoma/polyp skos:exactMatch EFO:1000197 semapv:UnspecifiedMatching MONDO:0006164 colorectal sessile serrated adenoma/polyp skos:exactMatch MEDGEN:415420 semapv:UnspecifiedMatching MONDO:0006164 colorectal sessile serrated adenoma/polyp skos:exactMatch NCIT:C83176 Colorectal Serrated Lesions and Polyps semapv:UnspecifiedMatching MONDO:0006164 colorectal sessile serrated adenoma/polyp skos:exactMatch UMLS:C2826783 semapv:UnspecifiedMatching MONDO:0006165 colorectal squamous cell carcinoma skos:exactMatch EFO:1000198 semapv:UnspecifiedMatching MONDO:0006165 colorectal squamous cell carcinoma skos:exactMatch MEDGEN:317527 semapv:UnspecifiedMatching MONDO:0006165 colorectal squamous cell carcinoma skos:exactMatch NCIT:C43588 Colorectal Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0006165 colorectal squamous cell carcinoma skos:exactMatch UMLS:C1707442 semapv:UnspecifiedMatching MONDO:0006166 columnar cell hyperplasia of the breast skos:exactMatch EFO:1000199 semapv:UnspecifiedMatching MONDO:0006166 columnar cell hyperplasia of the breast skos:exactMatch MEDGEN:310623 semapv:UnspecifiedMatching MONDO:0006166 columnar cell hyperplasia of the breast skos:exactMatch NCIT:C54183 Breast Columnar Cell Hyperplasia semapv:UnspecifiedMatching MONDO:0006166 columnar cell hyperplasia of the breast skos:exactMatch UMLS:C1707446 semapv:UnspecifiedMatching MONDO:0006167 combined lung carcinoma skos:exactMatch EFO:1000200 semapv:UnspecifiedMatching MONDO:0006167 combined lung carcinoma skos:exactMatch MEDGEN:234166 semapv:UnspecifiedMatching MONDO:0006167 combined lung carcinoma skos:exactMatch NCIT:C7591 Combined Lung Carcinoma semapv:UnspecifiedMatching MONDO:0006167 combined lung carcinoma skos:exactMatch UMLS:C1333123 semapv:UnspecifiedMatching MONDO:0006169 complex endometrial hyperplasia skos:exactMatch EFO:1000202 semapv:UnspecifiedMatching MONDO:0006169 complex endometrial hyperplasia skos:exactMatch MEDGEN:83889 semapv:UnspecifiedMatching MONDO:0006169 complex endometrial hyperplasia skos:exactMatch NCIT:C35423 Complex Endometrial Hyperplasia semapv:UnspecifiedMatching MONDO:0006169 complex endometrial hyperplasia skos:exactMatch SCTID:198322002 semapv:UnspecifiedMatching MONDO:0006169 complex endometrial hyperplasia skos:exactMatch UMLS:C0349578 semapv:UnspecifiedMatching MONDO:0006170 conjunctival disorder skos:exactMatch DOID:4251 conjunctival disease semapv:UnspecifiedMatching MONDO:0006170 conjunctival disorder skos:exactMatch EFO:1000203 semapv:UnspecifiedMatching MONDO:0006170 conjunctival disorder skos:exactMatch ICD10CM:H10-H11 Disorders of conjunctiva (H10-H11) semapv:UnspecifiedMatching MONDO:0006170 conjunctival disorder skos:exactMatch MEDGEN:3207 semapv:UnspecifiedMatching MONDO:0006170 conjunctival disorder skos:exactMatch NCIT:C27605 Conjunctival Disorder semapv:UnspecifiedMatching MONDO:0006170 conjunctival disorder skos:exactMatch UMLS:C0009759 semapv:UnspecifiedMatching MONDO:0006172 conjunctival nevus skos:exactMatch DOID:0050906 conjunctival nevus semapv:UnspecifiedMatching MONDO:0006172 conjunctival nevus skos:exactMatch EFO:1000205 semapv:UnspecifiedMatching MONDO:0006172 conjunctival nevus skos:exactMatch MEDGEN:83422 semapv:UnspecifiedMatching MONDO:0006172 conjunctival nevus skos:exactMatch NCIT:C4551 Conjunctival Nevus semapv:UnspecifiedMatching MONDO:0006172 conjunctival nevus skos:exactMatch SCTID:255006004 semapv:UnspecifiedMatching MONDO:0006172 conjunctival nevus skos:exactMatch UMLS:C0346363 semapv:UnspecifiedMatching MONDO:0006173 conjunctival squamous cell carcinoma skos:exactMatch DOID:1748 conjunctival squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0006173 conjunctival squamous cell carcinoma skos:exactMatch EFO:1000206 semapv:UnspecifiedMatching MONDO:0006173 conjunctival squamous cell carcinoma skos:exactMatch MEDGEN:87558 semapv:UnspecifiedMatching MONDO:0006173 conjunctival squamous cell carcinoma skos:exactMatch NCIT:C4549 Conjunctival Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0006173 conjunctival squamous cell carcinoma skos:exactMatch SCTID:255003007 semapv:UnspecifiedMatching MONDO:0006173 conjunctival squamous cell carcinoma skos:exactMatch UMLS:C0346359 semapv:UnspecifiedMatching MONDO:0006174 cortisol-producing adrenal cortex adenoma skos:exactMatch EFO:1000208 semapv:UnspecifiedMatching MONDO:0006174 cortisol-producing adrenal cortex adenoma skos:exactMatch MEDGEN:353568 semapv:UnspecifiedMatching MONDO:0006174 cortisol-producing adrenal cortex adenoma skos:exactMatch NCIT:C48449 Cortisol-Producing Adrenal Cortical Adenoma semapv:UnspecifiedMatching MONDO:0006174 cortisol-producing adrenal cortex adenoma skos:exactMatch UMLS:C1707525 semapv:UnspecifiedMatching MONDO:0006176 cribriform carcinoma skos:exactMatch EFO:1000210 semapv:UnspecifiedMatching MONDO:0006176 cribriform carcinoma skos:exactMatch MEDGEN:104694 semapv:UnspecifiedMatching MONDO:0006176 cribriform carcinoma skos:exactMatch NCIT:C3680 Cribriform Carcinoma semapv:UnspecifiedMatching MONDO:0006176 cribriform carcinoma skos:exactMatch UMLS:C0205643 semapv:UnspecifiedMatching MONDO:0006178 dedifferentiated solitary fibrous tumor skos:exactMatch EFO:1000214 semapv:UnspecifiedMatching MONDO:0006178 dedifferentiated solitary fibrous tumor skos:exactMatch MEDGEN:396654 semapv:UnspecifiedMatching MONDO:0006178 dedifferentiated solitary fibrous tumor skos:exactMatch NCIT:C79948 Dedifferentiated Solitary Fibrous Tumor semapv:UnspecifiedMatching MONDO:0006178 dedifferentiated solitary fibrous tumor skos:exactMatch UMLS:C2699572 semapv:UnspecifiedMatching MONDO:0006179 desmoplastic ameloblastoma skos:exactMatch EFO:1000215 semapv:UnspecifiedMatching MONDO:0006179 desmoplastic ameloblastoma skos:exactMatch MEDGEN:105345 semapv:UnspecifiedMatching MONDO:0006179 desmoplastic ameloblastoma skos:exactMatch NCIT:C39758 Desmoplastic Ameloblastoma semapv:UnspecifiedMatching MONDO:0006179 desmoplastic ameloblastoma skos:exactMatch UMLS:C0457533 semapv:UnspecifiedMatching MONDO:0006180 digestive system adenoma skos:exactMatch DOID:4147 gastrointestinal adenoma semapv:UnspecifiedMatching MONDO:0006180 digestive system adenoma skos:exactMatch EFO:1000217 semapv:UnspecifiedMatching MONDO:0006180 digestive system adenoma skos:exactMatch MEDGEN:184920 semapv:UnspecifiedMatching MONDO:0006180 digestive system adenoma skos:exactMatch NCIT:C36207 Digestive System Adenoma semapv:UnspecifiedMatching MONDO:0006180 digestive system adenoma skos:exactMatch UMLS:C0948101 semapv:UnspecifiedMatching MONDO:0006181 digestive system carcinoma skos:exactMatch DOID:0050922 gastrointestinal carcinoma semapv:UnspecifiedMatching MONDO:0006181 digestive system carcinoma skos:exactMatch EFO:1000218 semapv:UnspecifiedMatching MONDO:0006181 digestive system carcinoma skos:exactMatch MEDGEN:57467 semapv:UnspecifiedMatching MONDO:0006181 digestive system carcinoma skos:exactMatch NCIT:C96963 Digestive System Carcinoma semapv:UnspecifiedMatching MONDO:0006181 digestive system carcinoma skos:exactMatch UMLS:C0151544 semapv:UnspecifiedMatching MONDO:0006182 digestive system mixed adenoneuroendocrine carcinoma skos:exactMatch EFO:1000219 semapv:UnspecifiedMatching MONDO:0006182 digestive system mixed adenoneuroendocrine carcinoma skos:exactMatch MEDGEN:459355 semapv:UnspecifiedMatching MONDO:0006182 digestive system mixed adenoneuroendocrine carcinoma skos:exactMatch NCIT:C95406 Digestive System Mixed Adenoneuroendocrine Carcinoma semapv:UnspecifiedMatching MONDO:0006182 digestive system mixed adenoneuroendocrine carcinoma skos:exactMatch UMLS:C2987129 semapv:UnspecifiedMatching MONDO:0006183 disseminated peritoneal leiomyomatosis skos:exactMatch DOID:5728 diffuse peritoneal leiomyomatosis semapv:UnspecifiedMatching MONDO:0006183 disseminated peritoneal leiomyomatosis skos:exactMatch EFO:1000220 semapv:UnspecifiedMatching MONDO:0006183 disseminated peritoneal leiomyomatosis skos:exactMatch MEDGEN:78634 semapv:UnspecifiedMatching MONDO:0006183 disseminated peritoneal leiomyomatosis skos:exactMatch NCIT:C3958 Disseminated Peritoneal Leiomyomatosis semapv:UnspecifiedMatching MONDO:0006183 disseminated peritoneal leiomyomatosis skos:exactMatch Orphanet:71274 Disseminated peritoneal leiomyomatosis semapv:UnspecifiedMatching MONDO:0006183 disseminated peritoneal leiomyomatosis skos:exactMatch SCTID:62557001 semapv:UnspecifiedMatching MONDO:0006183 disseminated peritoneal leiomyomatosis skos:exactMatch UMLS:C0267785 semapv:UnspecifiedMatching MONDO:0006184 ductal breast carcinoma in situ and lobular carcinoma in situ skos:exactMatch EFO:1000221 semapv:UnspecifiedMatching MONDO:0006184 ductal breast carcinoma in situ and lobular carcinoma in situ skos:exactMatch MEDGEN:83137 semapv:UnspecifiedMatching MONDO:0006184 ductal breast carcinoma in situ and lobular carcinoma in situ skos:exactMatch NCIT:C4195 Breast Ductal Carcinoma In Situ and Lobular Carcinoma In Situ semapv:UnspecifiedMatching MONDO:0006184 ductal breast carcinoma in situ and lobular carcinoma in situ skos:exactMatch UMLS:C0334383 semapv:UnspecifiedMatching MONDO:0006186 duodenal adenocarcinoma skos:exactMatch DOID:10816 duodenum adenocarcinoma semapv:UnspecifiedMatching MONDO:0006186 duodenal adenocarcinoma skos:exactMatch EFO:1000223 semapv:UnspecifiedMatching MONDO:0006186 duodenal adenocarcinoma skos:exactMatch MEDGEN:82985 semapv:UnspecifiedMatching MONDO:0006186 duodenal adenocarcinoma skos:exactMatch NCIT:C7889 Duodenal Adenocarcinoma semapv:UnspecifiedMatching MONDO:0006186 duodenal adenocarcinoma skos:exactMatch SCTID:408644002 semapv:UnspecifiedMatching MONDO:0006186 duodenal adenocarcinoma skos:exactMatch UMLS:C0278804 semapv:UnspecifiedMatching MONDO:0006186 duodenal adenocarcinoma skos:exactMatch icd11.foundation:1182663077 Adenocarcinoma of duodenum semapv:UnspecifiedMatching MONDO:0006187 duodenal villous adenoma skos:exactMatch DOID:0050927 duodenum adenoma semapv:UnspecifiedMatching MONDO:0006187 duodenal villous adenoma skos:exactMatch EFO:1000225 semapv:UnspecifiedMatching MONDO:0006187 duodenal villous adenoma skos:exactMatch MEDGEN:232438 semapv:UnspecifiedMatching MONDO:0006187 duodenal villous adenoma skos:exactMatch NCIT:C5338 Duodenal Villous Adenoma semapv:UnspecifiedMatching MONDO:0006187 duodenal villous adenoma skos:exactMatch UMLS:C1333322 semapv:UnspecifiedMatching MONDO:0006188 EBV-positive T-cell lymphoproliferative disorder of childhood skos:exactMatch MEDGEN:397515 semapv:UnspecifiedMatching MONDO:0006188 EBV-positive T-cell lymphoproliferative disorder of childhood skos:exactMatch NCIT:C80373 EBV-Positive T-Cell/NK-Cell Lymphoproliferative Disorder of Childhood semapv:UnspecifiedMatching MONDO:0006188 EBV-positive T-cell lymphoproliferative disorder of childhood skos:exactMatch UMLS:C2699838 semapv:UnspecifiedMatching MONDO:0006189 eccrine porocarcinoma skos:exactMatch DOID:7566 eccrine porocarcinoma semapv:UnspecifiedMatching MONDO:0006189 eccrine porocarcinoma skos:exactMatch EFO:1000229 semapv:UnspecifiedMatching MONDO:0006189 eccrine porocarcinoma skos:exactMatch MEDGEN:266098 semapv:UnspecifiedMatching MONDO:0006189 eccrine porocarcinoma skos:exactMatch NCIT:C5560 Porocarcinoma semapv:UnspecifiedMatching MONDO:0006189 eccrine porocarcinoma skos:exactMatch SCTID:254708001 semapv:UnspecifiedMatching MONDO:0006189 eccrine porocarcinoma skos:exactMatch UMLS:C1266065 semapv:UnspecifiedMatching MONDO:0006189 eccrine porocarcinoma skos:exactMatch mesh:D057090 semapv:UnspecifiedMatching MONDO:0006190 endolymphatic sac tumor skos:exactMatch EFO:1000230 semapv:UnspecifiedMatching MONDO:0006190 endolymphatic sac tumor skos:exactMatch MEDGEN:389657 semapv:UnspecifiedMatching MONDO:0006190 endolymphatic sac tumor skos:exactMatch NCIT:C67560 Endolymphatic Sac Tumor semapv:UnspecifiedMatching MONDO:0006190 endolymphatic sac tumor skos:exactMatch SCTID:699817008 semapv:UnspecifiedMatching MONDO:0006190 endolymphatic sac tumor skos:exactMatch UMLS:C2348239 semapv:UnspecifiedMatching MONDO:0006191 endometrial clear cell adenocarcinoma skos:exactMatch DOID:5299 endometrial clear cell adenocarcinoma semapv:UnspecifiedMatching MONDO:0006191 endometrial clear cell adenocarcinoma skos:exactMatch EFO:1000231 semapv:UnspecifiedMatching MONDO:0006191 endometrial clear cell adenocarcinoma skos:exactMatch MEDGEN:124655 semapv:UnspecifiedMatching MONDO:0006191 endometrial clear cell adenocarcinoma skos:exactMatch NCIT:C8028 Endometrial Clear Cell Adenocarcinoma semapv:UnspecifiedMatching MONDO:0006191 endometrial clear cell adenocarcinoma skos:exactMatch UMLS:C0279765 semapv:UnspecifiedMatching MONDO:0006191 endometrial clear cell adenocarcinoma skos:exactMatch icd11.foundation:388735319 Endometrial clear cell adenocarcinoma semapv:UnspecifiedMatching MONDO:0006192 endometrial endometrioid adenocarcinoma skos:exactMatch EFO:1000233 semapv:UnspecifiedMatching MONDO:0006192 endometrial endometrioid adenocarcinoma skos:exactMatch MEDGEN:234467 semapv:UnspecifiedMatching MONDO:0006192 endometrial endometrioid adenocarcinoma skos:exactMatch NCIT:C6287 Endometrial Endometrioid Adenocarcinoma semapv:UnspecifiedMatching MONDO:0006192 endometrial endometrioid adenocarcinoma skos:exactMatch UMLS:C1336905 semapv:UnspecifiedMatching MONDO:0006192 endometrial endometrioid adenocarcinoma skos:exactMatch icd11.foundation:671511103 Endometrial endometrioid adenocarcinoma semapv:UnspecifiedMatching MONDO:0006193 endometrial hyperplasia without atypia skos:exactMatch EFO:1000234 semapv:UnspecifiedMatching MONDO:0006193 endometrial hyperplasia without atypia skos:exactMatch MEDGEN:274011 semapv:UnspecifiedMatching MONDO:0006193 endometrial hyperplasia without atypia skos:exactMatch NCIT:C40157 Endometrial Hyperplasia without Atypia semapv:UnspecifiedMatching MONDO:0006193 endometrial hyperplasia without atypia skos:exactMatch SCTID:134031000119108 semapv:UnspecifiedMatching MONDO:0006193 endometrial hyperplasia without atypia skos:exactMatch UMLS:C1516855 semapv:UnspecifiedMatching MONDO:0006195 endometrial polyp skos:exactMatch EFO:1000237 semapv:UnspecifiedMatching MONDO:0006195 endometrial polyp skos:exactMatch MEDGEN:312370 semapv:UnspecifiedMatching MONDO:0006195 endometrial polyp skos:exactMatch NCIT:C6433 Endometrial Polyp semapv:UnspecifiedMatching MONDO:0006195 endometrial polyp skos:exactMatch UMLS:C1704273 semapv:UnspecifiedMatching MONDO:0006196 endometrial serous adenocarcinoma skos:exactMatch DOID:5750 endometrial serous adenocarcinoma semapv:UnspecifiedMatching MONDO:0006196 endometrial serous adenocarcinoma skos:exactMatch EFO:1000238 semapv:UnspecifiedMatching MONDO:0006196 endometrial serous adenocarcinoma skos:exactMatch MEDGEN:1659908 semapv:UnspecifiedMatching MONDO:0006196 endometrial serous adenocarcinoma skos:exactMatch NCIT:C27838 Endometrial Serous Adenocarcinoma semapv:UnspecifiedMatching MONDO:0006196 endometrial serous adenocarcinoma skos:exactMatch UMLS:C0854924 semapv:UnspecifiedMatching MONDO:0006196 endometrial serous adenocarcinoma skos:exactMatch icd11.foundation:225222541 Endometrial serous adenocarcinoma semapv:UnspecifiedMatching MONDO:0006197 endometrial small cell carcinoma skos:exactMatch DOID:7139 endometrial small cell carcinoma semapv:UnspecifiedMatching MONDO:0006197 endometrial small cell carcinoma skos:exactMatch EFO:1000239 semapv:UnspecifiedMatching MONDO:0006197 endometrial small cell carcinoma skos:exactMatch MEDGEN:309057 semapv:UnspecifiedMatching MONDO:0006197 endometrial small cell carcinoma skos:exactMatch NCIT:C40155 Endometrial Small Cell Neuroendocrine Carcinoma semapv:UnspecifiedMatching MONDO:0006197 endometrial small cell carcinoma skos:exactMatch UMLS:C1516858 semapv:UnspecifiedMatching MONDO:0006197 endometrial small cell carcinoma skos:exactMatch icd11.foundation:845680139 Endometrial small cell carcinoma semapv:UnspecifiedMatching MONDO:0006198 endometrial squamous cell carcinoma skos:exactMatch DOID:5533 endometrial squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0006198 endometrial squamous cell carcinoma skos:exactMatch EFO:1000240 semapv:UnspecifiedMatching MONDO:0006198 endometrial squamous cell carcinoma skos:exactMatch MEDGEN:234217 semapv:UnspecifiedMatching MONDO:0006198 endometrial squamous cell carcinoma skos:exactMatch NCIT:C8719 Endometrial Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0006198 endometrial squamous cell carcinoma skos:exactMatch UMLS:C1333396 semapv:UnspecifiedMatching MONDO:0006198 endometrial squamous cell carcinoma skos:exactMatch icd11.foundation:1130568776 Endometrial squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0006199 endometrial undifferentiated carcinoma skos:exactMatch EFO:1000242 semapv:UnspecifiedMatching MONDO:0006199 endometrial undifferentiated carcinoma skos:exactMatch MEDGEN:274013 semapv:UnspecifiedMatching MONDO:0006199 endometrial undifferentiated carcinoma skos:exactMatch NCIT:C40156 Endometrial Undifferentiated Carcinoma semapv:UnspecifiedMatching MONDO:0006199 endometrial undifferentiated carcinoma skos:exactMatch UMLS:C1516865 semapv:UnspecifiedMatching MONDO:0006199 endometrial undifferentiated carcinoma skos:exactMatch icd11.foundation:130578959 Endometrial undifferentiated carcinoma semapv:UnspecifiedMatching MONDO:0006200 epithelioid cell uveal melanoma skos:exactMatch DOID:7040 uveal epithelioid cell melanoma semapv:UnspecifiedMatching MONDO:0006200 epithelioid cell uveal melanoma skos:exactMatch EFO:1000244 semapv:UnspecifiedMatching MONDO:0006200 epithelioid cell uveal melanoma skos:exactMatch MEDGEN:234223 semapv:UnspecifiedMatching MONDO:0006200 epithelioid cell uveal melanoma skos:exactMatch NCIT:C35780 Uveal Epithelioid Cell Melanoma semapv:UnspecifiedMatching MONDO:0006200 epithelioid cell uveal melanoma skos:exactMatch UMLS:C1333422 semapv:UnspecifiedMatching MONDO:0006201 ethmoid sinus adenoid cystic carcinoma skos:exactMatch DOID:2764 ethmoid sinus adenoid cystic carcinoma semapv:UnspecifiedMatching MONDO:0006201 ethmoid sinus adenoid cystic carcinoma skos:exactMatch EFO:1000246 semapv:UnspecifiedMatching MONDO:0006201 ethmoid sinus adenoid cystic carcinoma skos:exactMatch MEDGEN:232471 semapv:UnspecifiedMatching MONDO:0006201 ethmoid sinus adenoid cystic carcinoma skos:exactMatch NCIT:C6238 Ethmoid Sinus Adenoid Cystic Carcinoma semapv:UnspecifiedMatching MONDO:0006201 ethmoid sinus adenoid cystic carcinoma skos:exactMatch UMLS:C1333473 semapv:UnspecifiedMatching MONDO:0006202 extrahepatic bile duct adenosquamous carcinoma skos:exactMatch EFO:1000247 semapv:UnspecifiedMatching MONDO:0006202 extrahepatic bile duct adenosquamous carcinoma skos:exactMatch NCIT:C5778 Extrahepatic Bile Duct Adenosquamous Carcinoma semapv:UnspecifiedMatching MONDO:0006203 extrahepatic bile duct squamous cell carcinoma skos:exactMatch EFO:1000248 semapv:UnspecifiedMatching MONDO:0006203 extrahepatic bile duct squamous cell carcinoma skos:exactMatch NCIT:C5777 Extrahepatic Bile Duct Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0006206 fallopian tube carcinoma skos:exactMatch DOID:1963 fallopian tube carcinoma semapv:UnspecifiedMatching MONDO:0006206 fallopian tube carcinoma skos:exactMatch EFO:1000251 semapv:UnspecifiedMatching MONDO:0006206 fallopian tube carcinoma skos:exactMatch MEDGEN:66762 semapv:UnspecifiedMatching MONDO:0006206 fallopian tube carcinoma skos:exactMatch NCIT:C3867 Fallopian Tube Carcinoma semapv:UnspecifiedMatching MONDO:0006206 fallopian tube carcinoma skos:exactMatch SCTID:276870001 semapv:UnspecifiedMatching MONDO:0006206 fallopian tube carcinoma skos:exactMatch UMLS:C0238122 semapv:UnspecifiedMatching MONDO:0006207 fallopian tube carcinosarcoma skos:exactMatch DOID:1970 fallopian tube carcinosarcoma semapv:UnspecifiedMatching MONDO:0006207 fallopian tube carcinosarcoma skos:exactMatch EFO:1000252 semapv:UnspecifiedMatching MONDO:0006207 fallopian tube carcinosarcoma skos:exactMatch MEDGEN:273294 semapv:UnspecifiedMatching MONDO:0006207 fallopian tube carcinosarcoma skos:exactMatch NCIT:C40124 Fallopian Tube Carcinosarcoma semapv:UnspecifiedMatching MONDO:0006207 fallopian tube carcinosarcoma skos:exactMatch UMLS:C1517117 semapv:UnspecifiedMatching MONDO:0006208 fallopian tube serous adenocarcinoma skos:exactMatch DOID:5598 fallopian tube serous adenocarcinoma semapv:UnspecifiedMatching MONDO:0006208 fallopian tube serous adenocarcinoma skos:exactMatch EFO:1000253 semapv:UnspecifiedMatching MONDO:0006208 fallopian tube serous adenocarcinoma skos:exactMatch MEDGEN:274490 semapv:UnspecifiedMatching MONDO:0006208 fallopian tube serous adenocarcinoma skos:exactMatch NCIT:C40099 Fallopian Tube Serous Adenocarcinoma semapv:UnspecifiedMatching MONDO:0006208 fallopian tube serous adenocarcinoma skos:exactMatch UMLS:C1517124 semapv:UnspecifiedMatching MONDO:0006209 fibroblastic neoplasm skos:exactMatch EFO:1000255 semapv:UnspecifiedMatching MONDO:0006209 fibroblastic neoplasm skos:exactMatch MEDGEN:60198 semapv:UnspecifiedMatching MONDO:0006209 fibroblastic neoplasm skos:exactMatch NCIT:C7075 Fibroblastic Neoplasm semapv:UnspecifiedMatching MONDO:0006209 fibroblastic neoplasm skos:exactMatch UMLS:C0206643 semapv:UnspecifiedMatching MONDO:0006210 fibrolamellar hepatocellular carcinoma skos:exactMatch DOID:5015 fibrolamellar carcinoma semapv:UnspecifiedMatching MONDO:0006210 fibrolamellar hepatocellular carcinoma skos:exactMatch EFO:1000256 semapv:UnspecifiedMatching MONDO:0006210 fibrolamellar hepatocellular carcinoma skos:exactMatch MEDGEN:83122 semapv:UnspecifiedMatching MONDO:0006210 fibrolamellar hepatocellular carcinoma skos:exactMatch NCIT:C4131 Fibrolamellar Carcinoma semapv:UnspecifiedMatching MONDO:0006210 fibrolamellar hepatocellular carcinoma skos:exactMatch Orphanet:401920 Fibrolamellar hepatocellular carcinoma semapv:UnspecifiedMatching MONDO:0006210 fibrolamellar hepatocellular carcinoma skos:exactMatch SCTID:253018005 semapv:UnspecifiedMatching MONDO:0006210 fibrolamellar hepatocellular carcinoma skos:exactMatch UMLS:C0334287 semapv:UnspecifiedMatching MONDO:0006210 fibrolamellar hepatocellular carcinoma skos:exactMatch mesh:C537258 semapv:UnspecifiedMatching MONDO:0006211 fibrous hamartoma of infancy skos:exactMatch EFO:1000257 semapv:UnspecifiedMatching MONDO:0006211 fibrous hamartoma of infancy skos:exactMatch MEDGEN:120562 semapv:UnspecifiedMatching MONDO:0006211 fibrous hamartoma of infancy skos:exactMatch NCIT:C3942 Fibrous Hamartoma of Infancy semapv:UnspecifiedMatching MONDO:0006211 fibrous hamartoma of infancy skos:exactMatch SCTID:56364004 semapv:UnspecifiedMatching MONDO:0006211 fibrous hamartoma of infancy skos:exactMatch UMLS:C0265979 semapv:UnspecifiedMatching MONDO:0006211 fibrous hamartoma of infancy skos:exactMatch icd11.foundation:1496992098 Fibrous hamartoma of infancy semapv:UnspecifiedMatching MONDO:0006212 flat urothelial hyperplasia skos:exactMatch EFO:1000259 semapv:UnspecifiedMatching MONDO:0006212 flat urothelial hyperplasia skos:exactMatch MEDGEN:272633 semapv:UnspecifiedMatching MONDO:0006212 flat urothelial hyperplasia skos:exactMatch NCIT:C27878 Flat Urothelial Hyperplasia semapv:UnspecifiedMatching MONDO:0006212 flat urothelial hyperplasia skos:exactMatch UMLS:C1333621 semapv:UnspecifiedMatching MONDO:0006213 floor of mouth mucoepidermoid carcinoma skos:exactMatch EFO:1000260 semapv:UnspecifiedMatching MONDO:0006213 floor of mouth mucoepidermoid carcinoma skos:exactMatch MEDGEN:124718 semapv:UnspecifiedMatching MONDO:0006213 floor of mouth mucoepidermoid carcinoma skos:exactMatch NCIT:C8178 Floor of Mouth Mucoepidermoid Carcinoma semapv:UnspecifiedMatching MONDO:0006213 floor of mouth mucoepidermoid carcinoma skos:exactMatch UMLS:C0280310 semapv:UnspecifiedMatching MONDO:0006214 follicular variant thyroid gland papillary carcinoma skos:exactMatch EFO:1000261 semapv:UnspecifiedMatching MONDO:0006214 follicular variant thyroid gland papillary carcinoma skos:exactMatch MEDGEN:811427 semapv:UnspecifiedMatching MONDO:0006214 follicular variant thyroid gland papillary carcinoma skos:exactMatch NCIT:C126594 Follicular Variant Thyroid Gland Papillary Carcinoma semapv:UnspecifiedMatching MONDO:0006214 follicular variant thyroid gland papillary carcinoma skos:exactMatch UMLS:C3714651 semapv:UnspecifiedMatching MONDO:0006215 gallbladder adenocarcinoma skos:exactMatch DOID:3500 gallbladder adenocarcinoma semapv:UnspecifiedMatching MONDO:0006215 gallbladder adenocarcinoma skos:exactMatch EFO:1000262 semapv:UnspecifiedMatching MONDO:0006215 gallbladder adenocarcinoma skos:exactMatch MEDGEN:76009 semapv:UnspecifiedMatching MONDO:0006215 gallbladder adenocarcinoma skos:exactMatch NCIT:C9166 Gallbladder Adenocarcinoma semapv:UnspecifiedMatching MONDO:0006215 gallbladder adenocarcinoma skos:exactMatch UMLS:C0279651 semapv:UnspecifiedMatching MONDO:0006215 gallbladder adenocarcinoma skos:exactMatch icd11.foundation:15874829 Adenocarcinoma of the gallbladder semapv:UnspecifiedMatching MONDO:0006216 gallbladder adenoma skos:exactMatch DOID:0050893 gallbladder adenoma semapv:UnspecifiedMatching MONDO:0006216 gallbladder adenoma skos:exactMatch EFO:1000263 semapv:UnspecifiedMatching MONDO:0006216 gallbladder adenoma skos:exactMatch MEDGEN:116046 semapv:UnspecifiedMatching MONDO:0006216 gallbladder adenoma skos:exactMatch NCIT:C7720 Gallbladder Adenoma semapv:UnspecifiedMatching MONDO:0006216 gallbladder adenoma skos:exactMatch UMLS:C0238137 semapv:UnspecifiedMatching MONDO:0006216 gallbladder adenoma skos:exactMatch icd11.foundation:1229475359 Adenoma of gallbladder semapv:UnspecifiedMatching MONDO:0006217 gallbladder adenosquamous carcinoma skos:exactMatch DOID:5627 adenosquamous gallbladder carcinoma semapv:UnspecifiedMatching MONDO:0006217 gallbladder adenosquamous carcinoma skos:exactMatch EFO:1000264 semapv:UnspecifiedMatching MONDO:0006217 gallbladder adenosquamous carcinoma skos:exactMatch MEDGEN:232539 semapv:UnspecifiedMatching MONDO:0006217 gallbladder adenosquamous carcinoma skos:exactMatch NCIT:C7356 Gallbladder Adenosquamous Carcinoma semapv:UnspecifiedMatching MONDO:0006217 gallbladder adenosquamous carcinoma skos:exactMatch UMLS:C1333741 semapv:UnspecifiedMatching MONDO:0006218 gallbladder biliary intraepithelial neoplasia skos:exactMatch EFO:1000265 semapv:UnspecifiedMatching MONDO:0006218 gallbladder biliary intraepithelial neoplasia skos:exactMatch MEDGEN:317714 semapv:UnspecifiedMatching MONDO:0006218 gallbladder biliary intraepithelial neoplasia skos:exactMatch NCIT:C43606 Gallbladder Biliary Intraepithelial Neoplasia semapv:UnspecifiedMatching MONDO:0006218 gallbladder biliary intraepithelial neoplasia skos:exactMatch UMLS:C1708174 semapv:UnspecifiedMatching MONDO:0006219 gallbladder small cell neuroendocrine carcinoma skos:exactMatch DOID:7133 gallbladder small cell carcinoma semapv:UnspecifiedMatching MONDO:0006219 gallbladder small cell neuroendocrine carcinoma skos:exactMatch EFO:1000266 semapv:UnspecifiedMatching MONDO:0006219 gallbladder small cell neuroendocrine carcinoma skos:exactMatch MEDGEN:232229 semapv:UnspecifiedMatching MONDO:0006219 gallbladder small cell neuroendocrine carcinoma skos:exactMatch NCIT:C6763 Gallbladder Small Cell Neuroendocrine Carcinoma semapv:UnspecifiedMatching MONDO:0006219 gallbladder small cell neuroendocrine carcinoma skos:exactMatch UMLS:C1333759 semapv:UnspecifiedMatching MONDO:0006220 gallbladder squamous cell carcinoma skos:exactMatch DOID:5535 gallbladder squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0006220 gallbladder squamous cell carcinoma skos:exactMatch EFO:1000267 semapv:UnspecifiedMatching MONDO:0006220 gallbladder squamous cell carcinoma skos:exactMatch MEDGEN:83539 semapv:UnspecifiedMatching MONDO:0006220 gallbladder squamous cell carcinoma skos:exactMatch NCIT:C9170 Gallbladder Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0006220 gallbladder squamous cell carcinoma skos:exactMatch UMLS:C0279658 semapv:UnspecifiedMatching MONDO:0006221 gastric adenoma skos:exactMatch EFO:1000268 semapv:UnspecifiedMatching MONDO:0006221 gastric adenoma skos:exactMatch MEDGEN:56204 semapv:UnspecifiedMatching MONDO:0006221 gastric adenoma skos:exactMatch NCIT:C7699 Gastric Adenoma semapv:UnspecifiedMatching MONDO:0006221 gastric adenoma skos:exactMatch UMLS:C0149826 semapv:UnspecifiedMatching MONDO:0006222 gastric choriocarcinoma skos:exactMatch EFO:1000269 semapv:UnspecifiedMatching MONDO:0006222 gastric choriocarcinoma skos:exactMatch MEDGEN:459624 semapv:UnspecifiedMatching MONDO:0006222 gastric choriocarcinoma skos:exactMatch NCIT:C95749 Gastric Choriocarcinoma semapv:UnspecifiedMatching MONDO:0006222 gastric choriocarcinoma skos:exactMatch UMLS:C2987398 semapv:UnspecifiedMatching MONDO:0006223 gastric diffuse large B-cell lymphoma skos:exactMatch EFO:1000270 semapv:UnspecifiedMatching MONDO:0006223 gastric diffuse large B-cell lymphoma skos:exactMatch MEDGEN:277530 semapv:UnspecifiedMatching MONDO:0006223 gastric diffuse large B-cell lymphoma skos:exactMatch NCIT:C5253 Gastric Diffuse Large B-Cell Lymphoma semapv:UnspecifiedMatching MONDO:0006223 gastric diffuse large B-cell lymphoma skos:exactMatch UMLS:C1335483 semapv:UnspecifiedMatching MONDO:0006224 gastric hamartomatous polyp skos:exactMatch EFO:1000271 semapv:UnspecifiedMatching MONDO:0006224 gastric hamartomatous polyp skos:exactMatch MEDGEN:90961 semapv:UnspecifiedMatching MONDO:0006224 gastric hamartomatous polyp skos:exactMatch NCIT:C4373 Gastric Hamartomatous Polyp semapv:UnspecifiedMatching MONDO:0006224 gastric hamartomatous polyp skos:exactMatch SCTID:235685007 semapv:UnspecifiedMatching MONDO:0006224 gastric hamartomatous polyp skos:exactMatch UMLS:C0341225 semapv:UnspecifiedMatching MONDO:0006225 gastric mantle cell lymphoma skos:exactMatch EFO:1000272 semapv:UnspecifiedMatching MONDO:0006225 gastric mantle cell lymphoma skos:exactMatch MEDGEN:234300 semapv:UnspecifiedMatching MONDO:0006225 gastric mantle cell lymphoma skos:exactMatch NCIT:C27440 Gastric Mantle Cell Lymphoma semapv:UnspecifiedMatching MONDO:0006225 gastric mantle cell lymphoma skos:exactMatch UMLS:C1333780 semapv:UnspecifiedMatching MONDO:0006226 gastric mucosa-associated lymphoid tissue lymphoma skos:exactMatch EFO:1000274 semapv:UnspecifiedMatching MONDO:0006226 gastric mucosa-associated lymphoid tissue lymphoma skos:exactMatch MEDGEN:232547 semapv:UnspecifiedMatching MONDO:0006226 gastric mucosa-associated lymphoid tissue lymphoma skos:exactMatch NCIT:C5266 Gastric Mucosa-Associated Lymphoid Tissue Lymphoma semapv:UnspecifiedMatching MONDO:0006226 gastric mucosa-associated lymphoid tissue lymphoma skos:exactMatch UMLS:C1333782 semapv:UnspecifiedMatching MONDO:0006227 gastric neuroendocrine tumor G1 skos:exactMatch EFO:1000275 semapv:UnspecifiedMatching MONDO:0006227 gastric neuroendocrine tumor G1 skos:exactMatch MEDGEN:83885 semapv:UnspecifiedMatching MONDO:0006227 gastric neuroendocrine tumor G1 skos:exactMatch NCIT:C4635 Gastric Neuroendocrine Tumor G1 semapv:UnspecifiedMatching MONDO:0006227 gastric neuroendocrine tumor G1 skos:exactMatch UMLS:C0349529 semapv:UnspecifiedMatching MONDO:0006228 gastric papillary adenocarcinoma skos:exactMatch DOID:5593 gastric papillary adenocarcinoma semapv:UnspecifiedMatching MONDO:0006228 gastric papillary adenocarcinoma skos:exactMatch EFO:1000276 semapv:UnspecifiedMatching MONDO:0006228 gastric papillary adenocarcinoma skos:exactMatch MEDGEN:232550 semapv:UnspecifiedMatching MONDO:0006228 gastric papillary adenocarcinoma skos:exactMatch NCIT:C5472 Gastric Papillary Adenocarcinoma semapv:UnspecifiedMatching MONDO:0006228 gastric papillary adenocarcinoma skos:exactMatch UMLS:C1333785 semapv:UnspecifiedMatching MONDO:0006229 gastric small cell neuroendocrine carcinoma skos:exactMatch DOID:6552 gastric small cell carcinoma semapv:UnspecifiedMatching MONDO:0006229 gastric small cell neuroendocrine carcinoma skos:exactMatch EFO:1000277 semapv:UnspecifiedMatching MONDO:0006229 gastric small cell neuroendocrine carcinoma skos:exactMatch MEDGEN:272664 semapv:UnspecifiedMatching MONDO:0006229 gastric small cell neuroendocrine carcinoma skos:exactMatch NCIT:C6764 Gastric Small Cell Neuroendocrine Carcinoma semapv:UnspecifiedMatching MONDO:0006229 gastric small cell neuroendocrine carcinoma skos:exactMatch UMLS:C1333788 semapv:UnspecifiedMatching MONDO:0006230 gastric squamous cell carcinoma skos:exactMatch DOID:5516 gastric squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0006230 gastric squamous cell carcinoma skos:exactMatch EFO:1000278 semapv:UnspecifiedMatching MONDO:0006230 gastric squamous cell carcinoma skos:exactMatch MEDGEN:234302 semapv:UnspecifiedMatching MONDO:0006230 gastric squamous cell carcinoma skos:exactMatch NCIT:C5475 Gastric Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0006230 gastric squamous cell carcinoma skos:exactMatch Orphanet:418959 Squamous cell carcinoma of the stomach semapv:UnspecifiedMatching MONDO:0006230 gastric squamous cell carcinoma skos:exactMatch SCTID:766980008 semapv:UnspecifiedMatching MONDO:0006230 gastric squamous cell carcinoma skos:exactMatch UMLS:C1333789 semapv:UnspecifiedMatching MONDO:0006231 gastrointestinal hamartoma skos:exactMatch EFO:1000280 semapv:UnspecifiedMatching MONDO:0006231 gastrointestinal hamartoma skos:exactMatch MEDGEN:474435 semapv:UnspecifiedMatching MONDO:0006231 gastrointestinal hamartoma skos:exactMatch NCIT:C96475 Gastrointestinal Hamartoma semapv:UnspecifiedMatching MONDO:0006231 gastrointestinal hamartoma skos:exactMatch UMLS:C3272802 semapv:UnspecifiedMatching MONDO:0006232 giant cell tumor of soft tissue skos:exactMatch EFO:1000281 semapv:UnspecifiedMatching MONDO:0006232 giant cell tumor of soft tissue skos:exactMatch MEDGEN:87264 semapv:UnspecifiedMatching MONDO:0006232 giant cell tumor of soft tissue skos:exactMatch NCIT:C49107 Giant Cell Tumor of Soft Tissue semapv:UnspecifiedMatching MONDO:0006232 giant cell tumor of soft tissue skos:exactMatch UMLS:C0334553 semapv:UnspecifiedMatching MONDO:0006233 gonadal teratoma skos:exactMatch EFO:1000282 semapv:UnspecifiedMatching MONDO:0006233 gonadal teratoma skos:exactMatch MEDGEN:475575 semapv:UnspecifiedMatching MONDO:0006233 gonadal teratoma skos:exactMatch NCIT:C98291 Gonadal Teratoma semapv:UnspecifiedMatching MONDO:0006233 gonadal teratoma skos:exactMatch UMLS:C3273942 semapv:UnspecifiedMatching MONDO:0006234 grade III prostatic intraepithelial neoplasia skos:exactMatch DOID:8634 prostate carcinoma in situ semapv:UnspecifiedMatching MONDO:0006234 grade III prostatic intraepithelial neoplasia skos:exactMatch EFO:1000283 semapv:UnspecifiedMatching MONDO:0006234 grade III prostatic intraepithelial neoplasia skos:exactMatch ICD10CM:D07.5 Carcinoma in situ of prostate semapv:UnspecifiedMatching MONDO:0006234 grade III prostatic intraepithelial neoplasia skos:exactMatch MEDGEN:1684800 semapv:UnspecifiedMatching MONDO:0006234 grade III prostatic intraepithelial neoplasia skos:exactMatch NCIT:C3642 Grade III Prostatic Intraepithelial Neoplasia semapv:UnspecifiedMatching MONDO:0006234 grade III prostatic intraepithelial neoplasia skos:exactMatch SCTID:92691004 semapv:UnspecifiedMatching MONDO:0006234 grade III prostatic intraepithelial neoplasia skos:exactMatch UMLS:C5200982 semapv:UnspecifiedMatching MONDO:0006235 granular cell tumor skos:exactMatch DOID:2411 granular cell tumor semapv:UnspecifiedMatching MONDO:0006235 granular cell tumor skos:exactMatch EFO:1000284 semapv:UnspecifiedMatching MONDO:0006235 granular cell tumor skos:exactMatch MEDGEN:88345 semapv:UnspecifiedMatching MONDO:0006235 granular cell tumor skos:exactMatch NCIT:C3474 Granular Cell Tumor semapv:UnspecifiedMatching MONDO:0006235 granular cell tumor skos:exactMatch SCTID:404035005 semapv:UnspecifiedMatching MONDO:0006235 granular cell tumor skos:exactMatch UMLS:C0085167 semapv:UnspecifiedMatching MONDO:0006235 granular cell tumor skos:exactMatch mesh:C535558 semapv:UnspecifiedMatching MONDO:0006235 granular cell tumor skos:exactMatch mesh:D016586 semapv:UnspecifiedMatching MONDO:0006237 granulocytic sarcoma skos:exactMatch EFO:1000286 semapv:UnspecifiedMatching MONDO:0006237 granulocytic sarcoma skos:exactMatch MEDGEN:56275 semapv:UnspecifiedMatching MONDO:0006237 granulocytic sarcoma skos:exactMatch NCIT:C35815 Granulocytic Sarcoma semapv:UnspecifiedMatching MONDO:0006237 granulocytic sarcoma skos:exactMatch UMLS:C0152276 semapv:UnspecifiedMatching MONDO:0006238 growth hormone-producing pituitary gland adenoma skos:exactMatch DOID:6255 growth hormone secreting pituitary adenoma semapv:UnspecifiedMatching MONDO:0006238 growth hormone-producing pituitary gland adenoma skos:exactMatch EFO:1000287 semapv:UnspecifiedMatching MONDO:0006238 growth hormone-producing pituitary gland adenoma skos:exactMatch MEDGEN:82999 semapv:UnspecifiedMatching MONDO:0006238 growth hormone-producing pituitary gland adenoma skos:exactMatch NCIT:C7461 Somatotroph Pituitary Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO:0006238 growth hormone-producing pituitary gland adenoma skos:exactMatch Orphanet:96256 Somatotropic adenoma semapv:UnspecifiedMatching MONDO:0006238 growth hormone-producing pituitary gland adenoma skos:exactMatch SCTID:254957009 semapv:UnspecifiedMatching MONDO:0006238 growth hormone-producing pituitary gland adenoma skos:exactMatch UMLS:C0278864 semapv:UnspecifiedMatching MONDO:0006239 head and neck paraganglioma skos:exactMatch EFO:1000288 semapv:UnspecifiedMatching MONDO:0006239 head and neck paraganglioma skos:exactMatch MEDGEN:232588 semapv:UnspecifiedMatching MONDO:0006239 head and neck paraganglioma skos:exactMatch NCIT:C5327 Head and Neck Paraganglioma semapv:UnspecifiedMatching MONDO:0006239 head and neck paraganglioma skos:exactMatch UMLS:C1333944 semapv:UnspecifiedMatching MONDO:0006241 hepatic granuloma skos:exactMatch EFO:1000291 semapv:UnspecifiedMatching MONDO:0006241 hepatic granuloma skos:exactMatch MEDGEN:155428 semapv:UnspecifiedMatching MONDO:0006241 hepatic granuloma skos:exactMatch SCTID:714253009 semapv:UnspecifiedMatching MONDO:0006241 hepatic granuloma skos:exactMatch UMLS:C0745754 semapv:UnspecifiedMatching MONDO:0006243 hepatoid adenocarcinoma skos:exactMatch DOID:0060534 hepatoid adenocarcinoma semapv:UnspecifiedMatching MONDO:0006243 hepatoid adenocarcinoma skos:exactMatch EFO:1000293 semapv:UnspecifiedMatching MONDO:0006243 hepatoid adenocarcinoma skos:exactMatch MEDGEN:220413 semapv:UnspecifiedMatching MONDO:0006243 hepatoid adenocarcinoma skos:exactMatch NCIT:C66950 Hepatoid Adenocarcinoma semapv:UnspecifiedMatching MONDO:0006243 hepatoid adenocarcinoma skos:exactMatch UMLS:C1266090 semapv:UnspecifiedMatching MONDO:0006244 HER2 positive breast carcinoma skos:exactMatch DOID:0060079 Her2-receptor positive breast cancer semapv:UnspecifiedMatching MONDO:0006244 HER2 positive breast carcinoma skos:exactMatch EFO:1000294 semapv:UnspecifiedMatching MONDO:0006244 HER2 positive breast carcinoma skos:exactMatch MEDGEN:743175 semapv:UnspecifiedMatching MONDO:0006244 HER2 positive breast carcinoma skos:exactMatch NCIT:C53556 HER2-Positive Breast Carcinoma semapv:UnspecifiedMatching MONDO:0006244 HER2 positive breast carcinoma skos:exactMatch SCTID:427685000 semapv:UnspecifiedMatching MONDO:0006244 HER2 positive breast carcinoma skos:exactMatch UMLS:C1960398 semapv:UnspecifiedMatching MONDO:0006245 hidradenocarcinoma skos:exactMatch EFO:1000295 semapv:UnspecifiedMatching MONDO:0006245 hidradenocarcinoma skos:exactMatch MEDGEN:137746 semapv:UnspecifiedMatching MONDO:0006245 hidradenocarcinoma skos:exactMatch NCIT:C54664 Hidradenocarcinoma semapv:UnspecifiedMatching MONDO:0006245 hidradenocarcinoma skos:exactMatch UMLS:C0334344 semapv:UnspecifiedMatching MONDO:0006246 high grade surface osteosarcoma skos:exactMatch EFO:1000296 semapv:UnspecifiedMatching MONDO:0006246 high grade surface osteosarcoma skos:exactMatch MEDGEN:220428 semapv:UnspecifiedMatching MONDO:0006246 high grade surface osteosarcoma skos:exactMatch NCIT:C53958 High Grade Surface Osteosarcoma semapv:UnspecifiedMatching MONDO:0006246 high grade surface osteosarcoma skos:exactMatch UMLS:C1266165 semapv:UnspecifiedMatching MONDO:0006247 histiocytic and dendritic cell neoplasm skos:exactMatch DOID:5621 histiocytic and dendritic cell cancer semapv:UnspecifiedMatching MONDO:0006247 histiocytic and dendritic cell neoplasm skos:exactMatch EFO:1000297 semapv:UnspecifiedMatching MONDO:0006247 histiocytic and dendritic cell neoplasm skos:exactMatch MEDGEN:714988 semapv:UnspecifiedMatching MONDO:0006247 histiocytic and dendritic cell neoplasm skos:exactMatch NCIT:C9294 Histiocytic and Dendritic Cell Neoplasm semapv:UnspecifiedMatching MONDO:0006247 histiocytic and dendritic cell neoplasm skos:exactMatch Orphanet:98287 Histiocytic and dendritic cell tumor semapv:UnspecifiedMatching MONDO:0006247 histiocytic and dendritic cell neoplasm skos:exactMatch UMLS:C1292762 semapv:UnspecifiedMatching MONDO:0006248 hydatidiform mole skos:exactMatch EFO:1000298 semapv:UnspecifiedMatching MONDO:0006248 hydatidiform mole skos:exactMatch ICD10WHO:O01 Hydatidiform mole semapv:UnspecifiedMatching MONDO:0006248 hydatidiform mole skos:exactMatch MEDGEN:9329 semapv:UnspecifiedMatching MONDO:0006248 hydatidiform mole skos:exactMatch NCIT:C3110 Hydatidiform Mole semapv:UnspecifiedMatching MONDO:0006248 hydatidiform mole skos:exactMatch OMIMPS:231090 Hydatidiform mole, recurrent semapv:UnspecifiedMatching MONDO:0006248 hydatidiform mole skos:exactMatch Orphanet:99927 Hydatidiform mole semapv:UnspecifiedMatching MONDO:0006248 hydatidiform mole skos:exactMatch SCTID:44782008 semapv:UnspecifiedMatching MONDO:0006248 hydatidiform mole skos:exactMatch UMLS:C0020217 semapv:UnspecifiedMatching MONDO:0006248 hydatidiform mole skos:exactMatch icd11.foundation:946166369 Molar pregnancy semapv:UnspecifiedMatching MONDO:0006248 hydatidiform mole skos:exactMatch mesh:D006828 semapv:UnspecifiedMatching MONDO:0006249 hyperplastic polyp skos:exactMatch EFO:1000299 semapv:UnspecifiedMatching MONDO:0006249 hyperplastic polyp skos:exactMatch MEDGEN:87189 semapv:UnspecifiedMatching MONDO:0006249 hyperplastic polyp skos:exactMatch NCIT:C4083 Hyperplastic Polyp semapv:UnspecifiedMatching MONDO:0006249 hyperplastic polyp skos:exactMatch UMLS:C0333983 semapv:UnspecifiedMatching MONDO:0006250 ileal neuroendocrine tumor G1 skos:exactMatch EFO:1000300 semapv:UnspecifiedMatching MONDO:0006250 ileal neuroendocrine tumor G1 skos:exactMatch MEDGEN:155426 semapv:UnspecifiedMatching MONDO:0006250 ileal neuroendocrine tumor G1 skos:exactMatch NCIT:C4935 Ileal Neuroendocrine Tumor G1 semapv:UnspecifiedMatching MONDO:0006250 ileal neuroendocrine tumor G1 skos:exactMatch SCTID:425318003 semapv:UnspecifiedMatching MONDO:0006250 ileal neuroendocrine tumor G1 skos:exactMatch UMLS:C0745216 semapv:UnspecifiedMatching MONDO:0006254 intestinal type adenocarcinoma skos:exactMatch EFO:1000304 semapv:UnspecifiedMatching MONDO:0006254 intestinal type adenocarcinoma skos:exactMatch MEDGEN:87206 semapv:UnspecifiedMatching MONDO:0006254 intestinal type adenocarcinoma skos:exactMatch NCIT:C4126 Intestinal-Type Adenocarcinoma semapv:UnspecifiedMatching MONDO:0006254 intestinal type adenocarcinoma skos:exactMatch UMLS:C0334279 semapv:UnspecifiedMatching MONDO:0006255 intimal sarcoma skos:exactMatch EFO:1000305 semapv:UnspecifiedMatching MONDO:0006255 intimal sarcoma skos:exactMatch MEDGEN:317791 semapv:UnspecifiedMatching MONDO:0006255 intimal sarcoma skos:exactMatch NCIT:C53677 Intimal Sarcoma semapv:UnspecifiedMatching MONDO:0006255 intimal sarcoma skos:exactMatch UMLS:C1708550 semapv:UnspecifiedMatching MONDO:0006256 invasive breast carcinoma skos:exactMatch EFO:1000307 semapv:UnspecifiedMatching MONDO:0006256 invasive breast carcinoma skos:exactMatch MEDGEN:163435 semapv:UnspecifiedMatching MONDO:0006256 invasive breast carcinoma skos:exactMatch NCIT:C9245 Invasive Breast Carcinoma semapv:UnspecifiedMatching MONDO:0006256 invasive breast carcinoma skos:exactMatch SCTID:713609000 semapv:UnspecifiedMatching MONDO:0006256 invasive breast carcinoma skos:exactMatch UMLS:C0853879 semapv:UnspecifiedMatching MONDO:0006256 invasive breast carcinoma skos:exactMatch icd11.foundation:2090549892 Invasive carcinoma of breast semapv:UnspecifiedMatching MONDO:0006257 jejunal neuroendocrine tumor G1 skos:exactMatch EFO:1000308 semapv:UnspecifiedMatching MONDO:0006257 jejunal neuroendocrine tumor G1 skos:exactMatch MEDGEN:235235 semapv:UnspecifiedMatching MONDO:0006257 jejunal neuroendocrine tumor G1 skos:exactMatch NCIT:C6429 Jejunal Neuroendocrine Tumor G1 semapv:UnspecifiedMatching MONDO:0006257 jejunal neuroendocrine tumor G1 skos:exactMatch UMLS:C1334296 semapv:UnspecifiedMatching MONDO:0006258 juvenile polyp skos:exactMatch EFO:1000310 semapv:UnspecifiedMatching MONDO:0006258 juvenile polyp skos:exactMatch MEDGEN:113158 semapv:UnspecifiedMatching MONDO:0006258 juvenile polyp skos:exactMatch NCIT:C3826 Juvenile Polyp semapv:UnspecifiedMatching MONDO:0006258 juvenile polyp skos:exactMatch UMLS:C0221273 semapv:UnspecifiedMatching MONDO:0006260 kidney medullary carcinoma skos:exactMatch DOID:0070475 SMARCB1-deficient renal medullary carcinoma semapv:UnspecifiedMatching MONDO:0006260 kidney medullary carcinoma skos:exactMatch EFO:1000314 semapv:UnspecifiedMatching MONDO:0006260 kidney medullary carcinoma skos:exactMatch MEDGEN:888108 semapv:UnspecifiedMatching MONDO:0006260 kidney medullary carcinoma skos:exactMatch NCIT:C7572 Kidney Medullary Carcinoma semapv:UnspecifiedMatching MONDO:0006260 kidney medullary carcinoma skos:exactMatch Orphanet:319319 Renal medullary carcinoma semapv:UnspecifiedMatching MONDO:0006260 kidney medullary carcinoma skos:exactMatch UMLS:C4049328 semapv:UnspecifiedMatching MONDO:0006262 lacrimal gland adenoid cystic carcinoma skos:exactMatch DOID:4870 lacrimal gland adenoid cystic carcinoma semapv:UnspecifiedMatching MONDO:0006262 lacrimal gland adenoid cystic carcinoma skos:exactMatch EFO:1000317 semapv:UnspecifiedMatching MONDO:0006262 lacrimal gland adenoid cystic carcinoma skos:exactMatch MEDGEN:87555 semapv:UnspecifiedMatching MONDO:0006262 lacrimal gland adenoid cystic carcinoma skos:exactMatch NCIT:C4540 Lacrimal Gland Adenoid Cystic Carcinoma semapv:UnspecifiedMatching MONDO:0006262 lacrimal gland adenoid cystic carcinoma skos:exactMatch SCTID:254987003 semapv:UnspecifiedMatching MONDO:0006262 lacrimal gland adenoid cystic carcinoma skos:exactMatch UMLS:C0346340 semapv:UnspecifiedMatching MONDO:0006264 laryngeal adenoid cystic carcinoma skos:exactMatch DOID:4869 laryngeal adenoid cystic carcinoma semapv:UnspecifiedMatching MONDO:0006264 laryngeal adenoid cystic carcinoma skos:exactMatch EFO:1000319 semapv:UnspecifiedMatching MONDO:0006264 laryngeal adenoid cystic carcinoma skos:exactMatch MEDGEN:232690 semapv:UnspecifiedMatching MONDO:0006264 laryngeal adenoid cystic carcinoma skos:exactMatch NCIT:C9462 Laryngeal Adenoid Cystic Carcinoma semapv:UnspecifiedMatching MONDO:0006264 laryngeal adenoid cystic carcinoma skos:exactMatch UMLS:C1334368 semapv:UnspecifiedMatching MONDO:0006265 laryngeal small cell carcinoma skos:exactMatch DOID:7144 laryngeal small cell carcinoma semapv:UnspecifiedMatching MONDO:0006265 laryngeal small cell carcinoma skos:exactMatch EFO:1000320 semapv:UnspecifiedMatching MONDO:0006265 laryngeal small cell carcinoma skos:exactMatch MEDGEN:233611 semapv:UnspecifiedMatching MONDO:0006265 laryngeal small cell carcinoma skos:exactMatch NCIT:C6025 Laryngeal Small Cell Neuroendocrine Carcinoma semapv:UnspecifiedMatching MONDO:0006265 laryngeal small cell carcinoma skos:exactMatch UMLS:C1334378 semapv:UnspecifiedMatching MONDO:0006266 Leydig cell tumor skos:exactMatch DOID:2696 Leydig cell tumor semapv:UnspecifiedMatching MONDO:0006266 Leydig cell tumor skos:exactMatch EFO:1000321 semapv:UnspecifiedMatching MONDO:0006266 Leydig cell tumor skos:exactMatch MEDGEN:9747 semapv:UnspecifiedMatching MONDO:0006266 Leydig cell tumor skos:exactMatch NCIT:C3188 Leydig Cell Tumor semapv:UnspecifiedMatching MONDO:0006266 Leydig cell tumor skos:exactMatch UMLS:C0023601 semapv:UnspecifiedMatching MONDO:0006266 Leydig cell tumor skos:exactMatch mesh:D007984 semapv:UnspecifiedMatching MONDO:0006267 liver cavernous hemangioma skos:exactMatch MEDGEN:482990 semapv:UnspecifiedMatching MONDO:0006267 liver cavernous hemangioma skos:exactMatch NCIT:C96839 Liver Cavernous Hemangioma semapv:UnspecifiedMatching MONDO:0006267 liver cavernous hemangioma skos:exactMatch UMLS:C3282904 semapv:UnspecifiedMatching MONDO:0006268 liver diffuse large B-cell lymphoma skos:exactMatch EFO:1000323 semapv:UnspecifiedMatching MONDO:0006268 liver diffuse large B-cell lymphoma skos:exactMatch MEDGEN:473542 semapv:UnspecifiedMatching MONDO:0006268 liver diffuse large B-cell lymphoma skos:exactMatch NCIT:C96843 Liver Diffuse Large B-Cell Lymphoma semapv:UnspecifiedMatching MONDO:0006268 liver diffuse large B-cell lymphoma skos:exactMatch UMLS:C2184126 semapv:UnspecifiedMatching MONDO:0006270 lobular breast carcinoma in situ skos:exactMatch EFO:1000326 semapv:UnspecifiedMatching MONDO:0006270 lobular breast carcinoma in situ skos:exactMatch ICD10CM:D05.0 Lobular carcinoma in situ of breast semapv:UnspecifiedMatching MONDO:0006270 lobular breast carcinoma in situ skos:exactMatch MEDGEN:79007 semapv:UnspecifiedMatching MONDO:0006270 lobular breast carcinoma in situ skos:exactMatch NCIT:C4018 Breast Lobular Carcinoma In Situ semapv:UnspecifiedMatching MONDO:0006270 lobular breast carcinoma in situ skos:exactMatch SCTID:109888004 semapv:UnspecifiedMatching MONDO:0006270 lobular breast carcinoma in situ skos:exactMatch UMLS:C0279563 semapv:UnspecifiedMatching MONDO:0006271 low grade central osteosarcoma skos:exactMatch MEDGEN:818980 semapv:UnspecifiedMatching MONDO:0006271 low grade central osteosarcoma skos:exactMatch NCIT:C6474 Low Grade Central Osteosarcoma semapv:UnspecifiedMatching MONDO:0006271 low grade central osteosarcoma skos:exactMatch UMLS:C3814534 semapv:UnspecifiedMatching MONDO:0006272 low grade fibromyxoid sarcoma skos:exactMatch MEDGEN:224814 semapv:UnspecifiedMatching MONDO:0006272 low grade fibromyxoid sarcoma skos:exactMatch NCIT:C45202 Low Grade Fibromyxoid Sarcoma semapv:UnspecifiedMatching MONDO:0006272 low grade fibromyxoid sarcoma skos:exactMatch SCTID:404088004 semapv:UnspecifiedMatching MONDO:0006272 low grade fibromyxoid sarcoma skos:exactMatch UMLS:C1275282 semapv:UnspecifiedMatching MONDO:0006273 low grade fibromyxoid sarcoma with giant collagen rosettes skos:exactMatch EFO:1000329 semapv:UnspecifiedMatching MONDO:0006273 low grade fibromyxoid sarcoma with giant collagen rosettes skos:exactMatch MEDGEN:310942 semapv:UnspecifiedMatching MONDO:0006273 low grade fibromyxoid sarcoma with giant collagen rosettes skos:exactMatch NCIT:C45203 Low Grade Fibromyxoid Sarcoma with Giant Collagen Rosettes semapv:UnspecifiedMatching MONDO:0006273 low grade fibromyxoid sarcoma with giant collagen rosettes skos:exactMatch UMLS:C1708749 semapv:UnspecifiedMatching MONDO:0006274 low grade vulvar intraepithelial neoplasia skos:exactMatch EFO:1000330 semapv:UnspecifiedMatching MONDO:0006274 low grade vulvar intraepithelial neoplasia skos:exactMatch MEDGEN:99217 semapv:UnspecifiedMatching MONDO:0006274 low grade vulvar intraepithelial neoplasia skos:exactMatch NCIT:C4760 Low Grade Vulvar Squamous Intraepithelial Lesion semapv:UnspecifiedMatching MONDO:0006274 low grade vulvar intraepithelial neoplasia skos:exactMatch UMLS:C0495106 semapv:UnspecifiedMatching MONDO:0006275 lung giant cell carcinoma skos:exactMatch DOID:5583 lung giant cell carcinoma semapv:UnspecifiedMatching MONDO:0006275 lung giant cell carcinoma skos:exactMatch EFO:1000332 semapv:UnspecifiedMatching MONDO:0006275 lung giant cell carcinoma skos:exactMatch MEDGEN:83392 semapv:UnspecifiedMatching MONDO:0006275 lung giant cell carcinoma skos:exactMatch NCIT:C4452 Lung Giant Cell Carcinoma semapv:UnspecifiedMatching MONDO:0006275 lung giant cell carcinoma skos:exactMatch SCTID:254631008 semapv:UnspecifiedMatching MONDO:0006275 lung giant cell carcinoma skos:exactMatch UMLS:C0345960 semapv:UnspecifiedMatching MONDO:0006275 lung giant cell carcinoma skos:exactMatch mesh:D018286 semapv:UnspecifiedMatching MONDO:0006276 lung inflammatory myofibroblastic tumor skos:exactMatch EFO:1000333 semapv:UnspecifiedMatching MONDO:0006276 lung inflammatory myofibroblastic tumor skos:exactMatch MEDGEN:273512 semapv:UnspecifiedMatching MONDO:0006276 lung inflammatory myofibroblastic tumor skos:exactMatch NCIT:C39740 Lung Inflammatory Myofibroblastic Tumor semapv:UnspecifiedMatching MONDO:0006276 lung inflammatory myofibroblastic tumor skos:exactMatch UMLS:C1518038 semapv:UnspecifiedMatching MONDO:0006277 lung lymphangioleiomyomatosis skos:exactMatch DOID:3319 lymphangioleiomyomatosis semapv:UnspecifiedMatching MONDO:0006277 lung lymphangioleiomyomatosis skos:exactMatch EFO:1000334 semapv:UnspecifiedMatching MONDO:0006277 lung lymphangioleiomyomatosis skos:exactMatch MEDGEN:91161 semapv:UnspecifiedMatching MONDO:0006277 lung lymphangioleiomyomatosis skos:exactMatch NCIT:C38153 Lung Lymphangioleiomyomatosis semapv:UnspecifiedMatching MONDO:0006277 lung lymphangioleiomyomatosis skos:exactMatch Orphanet:538 Lymphangioleiomyomatosis semapv:UnspecifiedMatching MONDO:0006277 lung lymphangioleiomyomatosis skos:exactMatch SCTID:277844007 semapv:UnspecifiedMatching MONDO:0006277 lung lymphangioleiomyomatosis skos:exactMatch UMLS:C0349649 semapv:UnspecifiedMatching MONDO:0006278 lung papilloma skos:exactMatch EFO:1000335 semapv:UnspecifiedMatching MONDO:0006278 lung papilloma skos:exactMatch MEDGEN:1709750 semapv:UnspecifiedMatching MONDO:0006278 lung papilloma skos:exactMatch NCIT:C8295 Bronchial Papilloma semapv:UnspecifiedMatching MONDO:0006278 lung papilloma skos:exactMatch UMLS:C5397991 semapv:UnspecifiedMatching MONDO:0006279 lung sarcomatoid carcinoma skos:exactMatch DOID:0080777 lung sarcomatoid carcinoma semapv:UnspecifiedMatching MONDO:0006279 lung sarcomatoid carcinoma skos:exactMatch EFO:1000336 semapv:UnspecifiedMatching MONDO:0006279 lung sarcomatoid carcinoma skos:exactMatch MEDGEN:353871 semapv:UnspecifiedMatching MONDO:0006279 lung sarcomatoid carcinoma skos:exactMatch NCIT:C45540 Lung Sarcomatoid Carcinoma semapv:UnspecifiedMatching MONDO:0006279 lung sarcomatoid carcinoma skos:exactMatch SCTID:707460002 semapv:UnspecifiedMatching MONDO:0006279 lung sarcomatoid carcinoma skos:exactMatch UMLS:C1708781 semapv:UnspecifiedMatching MONDO:0006280 lung sclerosing hemangioma skos:exactMatch DOID:495 sclerosing hemangioma semapv:UnspecifiedMatching MONDO:0006280 lung sclerosing hemangioma skos:exactMatch DOID:5766 pulmonary sclerosing hemangioma semapv:UnspecifiedMatching MONDO:0006280 lung sclerosing hemangioma skos:exactMatch EFO:1000337 semapv:UnspecifiedMatching MONDO:0006280 lung sclerosing hemangioma skos:exactMatch MEDGEN:734262 semapv:UnspecifiedMatching MONDO:0006280 lung sclerosing hemangioma skos:exactMatch NCIT:C5656 Sclerosing Pneumocytoma semapv:UnspecifiedMatching MONDO:0006280 lung sclerosing hemangioma skos:exactMatch SCTID:707365008 semapv:UnspecifiedMatching MONDO:0006280 lung sclerosing hemangioma skos:exactMatch UMLS:C1509148 semapv:UnspecifiedMatching MONDO:0006280 lung sclerosing hemangioma skos:exactMatch mesh:D047868 semapv:UnspecifiedMatching MONDO:0006281 lung signet ring cell carcinoma skos:exactMatch DOID:0080305 signet ring lung adenocarcinoma semapv:UnspecifiedMatching MONDO:0006281 lung signet ring cell carcinoma skos:exactMatch EFO:1000338 semapv:UnspecifiedMatching MONDO:0006281 lung signet ring cell carcinoma skos:exactMatch MEDGEN:310950 semapv:UnspecifiedMatching MONDO:0006281 lung signet ring cell carcinoma skos:exactMatch NCIT:C45514 Lung Signet Ring Cell Carcinoma semapv:UnspecifiedMatching MONDO:0006281 lung signet ring cell carcinoma skos:exactMatch SCTID:707407001 semapv:UnspecifiedMatching MONDO:0006281 lung signet ring cell carcinoma skos:exactMatch UMLS:C1708782 semapv:UnspecifiedMatching MONDO:0006282 lymphangiosarcoma skos:exactMatch DOID:2689 lymphangiosarcoma semapv:UnspecifiedMatching MONDO:0006282 lymphangiosarcoma skos:exactMatch EFO:1000339 semapv:UnspecifiedMatching MONDO:0006282 lymphangiosarcoma skos:exactMatch MEDGEN:6154 semapv:UnspecifiedMatching MONDO:0006282 lymphangiosarcoma skos:exactMatch NCIT:C3205 Lymphangiosarcoma semapv:UnspecifiedMatching MONDO:0006282 lymphangiosarcoma skos:exactMatch SCTID:403986008 semapv:UnspecifiedMatching MONDO:0006282 lymphangiosarcoma skos:exactMatch UMLS:C0024224 semapv:UnspecifiedMatching MONDO:0006282 lymphangiosarcoma skos:exactMatch mesh:D008204 semapv:UnspecifiedMatching MONDO:0006283 lymphoepithelioma-like lung carcinoma skos:exactMatch EFO:1000340 semapv:UnspecifiedMatching MONDO:0006283 lymphoepithelioma-like lung carcinoma skos:exactMatch MEDGEN:313374 semapv:UnspecifiedMatching MONDO:0006283 lymphoepithelioma-like lung carcinoma skos:exactMatch NCIT:C45519 Lung Lymphoepithelial Carcinoma semapv:UnspecifiedMatching MONDO:0006283 lymphoepithelioma-like lung carcinoma skos:exactMatch UMLS:C1708792 semapv:UnspecifiedMatching MONDO:0006284 major salivary gland carcinoma skos:exactMatch EFO:1000344 semapv:UnspecifiedMatching MONDO:0006284 major salivary gland carcinoma skos:exactMatch MEDGEN:235287 semapv:UnspecifiedMatching MONDO:0006284 major salivary gland carcinoma skos:exactMatch NCIT:C5907 Major Salivary Gland Carcinoma semapv:UnspecifiedMatching MONDO:0006284 major salivary gland carcinoma skos:exactMatch UMLS:C1334549 semapv:UnspecifiedMatching MONDO:0006285 major salivary gland carcinoma ex pleomorphic adenoma skos:exactMatch EFO:1000345 semapv:UnspecifiedMatching MONDO:0006285 major salivary gland carcinoma ex pleomorphic adenoma skos:exactMatch MEDGEN:233655 semapv:UnspecifiedMatching MONDO:0006285 major salivary gland carcinoma ex pleomorphic adenoma skos:exactMatch NCIT:C5975 Major Salivary Gland Carcinoma ex Pleomorphic Adenoma semapv:UnspecifiedMatching MONDO:0006285 major salivary gland carcinoma ex pleomorphic adenoma skos:exactMatch UMLS:C1334550 semapv:UnspecifiedMatching MONDO:0006286 major salivary gland mucoepidermoid carcinoma skos:exactMatch EFO:1000346 semapv:UnspecifiedMatching MONDO:0006286 major salivary gland mucoepidermoid carcinoma skos:exactMatch MEDGEN:233139 semapv:UnspecifiedMatching MONDO:0006286 major salivary gland mucoepidermoid carcinoma skos:exactMatch NCIT:C5906 Major Salivary Gland Mucoepidermoid Carcinoma semapv:UnspecifiedMatching MONDO:0006286 major salivary gland mucoepidermoid carcinoma skos:exactMatch UMLS:C1334551 semapv:UnspecifiedMatching MONDO:0006287 malignancy in giant cell tumor of bone skos:exactMatch DOID:4719 bone giant cell sarcoma semapv:UnspecifiedMatching MONDO:0006287 malignancy in giant cell tumor of bone skos:exactMatch EFO:1000347 semapv:UnspecifiedMatching MONDO:0006287 malignancy in giant cell tumor of bone skos:exactMatch MEDGEN:87263 semapv:UnspecifiedMatching MONDO:0006287 malignancy in giant cell tumor of bone skos:exactMatch NCIT:C4304 Malignancy in Giant Cell Tumor of Bone semapv:UnspecifiedMatching MONDO:0006287 malignancy in giant cell tumor of bone skos:exactMatch UMLS:C0334552 semapv:UnspecifiedMatching MONDO:0006288 malignant adrenal gland pheochromocytoma skos:exactMatch DOID:0080347 malignant pheochromocytoma semapv:UnspecifiedMatching MONDO:0006288 malignant adrenal gland pheochromocytoma skos:exactMatch EFO:1000348 semapv:UnspecifiedMatching MONDO:0006288 malignant adrenal gland pheochromocytoma skos:exactMatch MEDGEN:87238 semapv:UnspecifiedMatching MONDO:0006288 malignant adrenal gland pheochromocytoma skos:exactMatch NCIT:C4220 Metastatic Adrenal Gland Pheochromocytoma semapv:UnspecifiedMatching MONDO:0006288 malignant adrenal gland pheochromocytoma skos:exactMatch SCTID:21851000119103 semapv:UnspecifiedMatching MONDO:0006288 malignant adrenal gland pheochromocytoma skos:exactMatch UMLS:C0334419 semapv:UnspecifiedMatching MONDO:0006290 malignant germ cell tumor skos:exactMatch EFO:1000352 semapv:UnspecifiedMatching MONDO:0006290 malignant germ cell tumor skos:exactMatch MEDGEN:890580 semapv:UnspecifiedMatching MONDO:0006290 malignant germ cell tumor skos:exactMatch NCIT:C4925 Malignant Germ Cell Tumor semapv:UnspecifiedMatching MONDO:0006290 malignant germ cell tumor skos:exactMatch SCTID:145831000119103 semapv:UnspecifiedMatching MONDO:0006290 malignant germ cell tumor skos:exactMatch UMLS:C4048549 semapv:UnspecifiedMatching MONDO:0006291 malignant jugulotympanic paraganglioma skos:exactMatch MEDGEN:87584 semapv:UnspecifiedMatching MONDO:0006291 malignant jugulotympanic paraganglioma skos:exactMatch NCIT:C4623 Metastatic Jugulotympanic Paraganglioma semapv:UnspecifiedMatching MONDO:0006291 malignant jugulotympanic paraganglioma skos:exactMatch UMLS:C0347856 semapv:UnspecifiedMatching MONDO:0006292 malignant mesothelioma skos:exactMatch DOID:1790 malignant mesothelioma semapv:UnspecifiedMatching MONDO:0006292 malignant mesothelioma skos:exactMatch EFO:1000355 semapv:UnspecifiedMatching MONDO:0006292 malignant mesothelioma skos:exactMatch MEDGEN:91062 semapv:UnspecifiedMatching MONDO:0006292 malignant mesothelioma skos:exactMatch NCIT:C4456 Malignant Mesothelioma semapv:UnspecifiedMatching MONDO:0006292 malignant mesothelioma skos:exactMatch OMIM:156240 mesothelioma, malignant semapv:UnspecifiedMatching MONDO:0006292 malignant mesothelioma skos:exactMatch Orphanet:50251 Pleural mesothelioma semapv:UnspecifiedMatching MONDO:0006292 malignant mesothelioma skos:exactMatch SCTID:109378008 semapv:UnspecifiedMatching MONDO:0006292 malignant mesothelioma skos:exactMatch UMLS:C0345967 semapv:UnspecifiedMatching MONDO:0006292 malignant mesothelioma skos:exactMatch icd11.foundation:369414280 Mesothelioma of pleura semapv:UnspecifiedMatching MONDO:0006292 malignant mesothelioma skos:exactMatch mesh:C562839 semapv:UnspecifiedMatching MONDO:0006294 pleural cancer skos:exactMatch DOID:5158 pleural cancer semapv:UnspecifiedMatching MONDO:0006294 pleural cancer skos:exactMatch EFO:1000362 semapv:UnspecifiedMatching MONDO:0006294 pleural cancer skos:exactMatch ICD10CM:C38.4 Malignant neoplasm of pleura semapv:UnspecifiedMatching MONDO:0006294 pleural cancer skos:exactMatch MEDGEN:56307 semapv:UnspecifiedMatching MONDO:0006294 pleural cancer skos:exactMatch NCIT:C3547 Malignant Pleural Neoplasm semapv:UnspecifiedMatching MONDO:0006294 pleural cancer skos:exactMatch SCTID:363433009 semapv:UnspecifiedMatching MONDO:0006294 pleural cancer skos:exactMatch UMLS:C0153494 semapv:UnspecifiedMatching MONDO:0006295 malignant urinary system neoplasm skos:exactMatch DOID:3996 urinary system cancer semapv:UnspecifiedMatching MONDO:0006295 malignant urinary system neoplasm skos:exactMatch EFO:1000363 semapv:UnspecifiedMatching MONDO:0006295 malignant urinary system neoplasm skos:exactMatch ICD10CM:C64-C68 Malignant neoplasms of urinary tract (C64-C68) semapv:UnspecifiedMatching MONDO:0006295 malignant urinary system neoplasm skos:exactMatch MEDGEN:738719 semapv:UnspecifiedMatching MONDO:0006295 malignant urinary system neoplasm skos:exactMatch NCIT:C192668 Malignant Urinary Tract Neoplasm semapv:UnspecifiedMatching MONDO:0006295 malignant urinary system neoplasm skos:exactMatch NCIT:C9297 Malignant Urinary System Neoplasm semapv:UnspecifiedMatching MONDO:0006295 malignant urinary system neoplasm skos:exactMatch SCTID:448233000 semapv:UnspecifiedMatching MONDO:0006295 malignant urinary system neoplasm skos:exactMatch UMLS:C1644719 semapv:UnspecifiedMatching MONDO:0006297 maxillary sinus adenoid cystic carcinoma skos:exactMatch DOID:7198 maxillary sinus adenoid cystic carcinoma semapv:UnspecifiedMatching MONDO:0006297 maxillary sinus adenoid cystic carcinoma skos:exactMatch EFO:1000365 semapv:UnspecifiedMatching MONDO:0006297 maxillary sinus adenoid cystic carcinoma skos:exactMatch MEDGEN:233168 semapv:UnspecifiedMatching MONDO:0006297 maxillary sinus adenoid cystic carcinoma skos:exactMatch NCIT:C6239 Maxillary Sinus Adenoid Cystic Carcinoma semapv:UnspecifiedMatching MONDO:0006297 maxillary sinus adenoid cystic carcinoma skos:exactMatch UMLS:C1334643 semapv:UnspecifiedMatching MONDO:0006298 mediastinal malignant germ cell tumor skos:exactMatch EFO:1000366 semapv:UnspecifiedMatching MONDO:0006298 mediastinal malignant germ cell tumor skos:exactMatch MEDGEN:277334 semapv:UnspecifiedMatching MONDO:0006298 mediastinal malignant germ cell tumor skos:exactMatch NCIT:C6446 Malignant Mediastinal Germ Cell Tumor semapv:UnspecifiedMatching MONDO:0006298 mediastinal malignant germ cell tumor skos:exactMatch SCTID:713293002 semapv:UnspecifiedMatching MONDO:0006298 mediastinal malignant germ cell tumor skos:exactMatch UMLS:C1334597 semapv:UnspecifiedMatching MONDO:0006300 medullomyoblastoma with myogenic differentiation skos:exactMatch DOID:3861 medullomyoblastoma semapv:UnspecifiedMatching MONDO:0006300 medullomyoblastoma with myogenic differentiation skos:exactMatch EFO:1000368 semapv:UnspecifiedMatching MONDO:0006300 medullomyoblastoma with myogenic differentiation skos:exactMatch MEDGEN:104731 semapv:UnspecifiedMatching MONDO:0006300 medullomyoblastoma with myogenic differentiation skos:exactMatch NCIT:C3706 Medullomyoblastoma semapv:UnspecifiedMatching MONDO:0006300 medullomyoblastoma with myogenic differentiation skos:exactMatch UMLS:C0205833 semapv:UnspecifiedMatching MONDO:0006301 metanephric adenoma skos:exactMatch DOID:6404 metanephric adenoma semapv:UnspecifiedMatching MONDO:0006301 metanephric adenoma skos:exactMatch EFO:1000373 semapv:UnspecifiedMatching MONDO:0006301 metanephric adenoma skos:exactMatch MEDGEN:266093 semapv:UnspecifiedMatching MONDO:0006301 metanephric adenoma skos:exactMatch NCIT:C27253 Metanephric Adenoma semapv:UnspecifiedMatching MONDO:0006301 metanephric adenoma skos:exactMatch UMLS:C1266045 semapv:UnspecifiedMatching MONDO:0006302 micropapillary serous carcinoma skos:exactMatch EFO:1000377 semapv:UnspecifiedMatching MONDO:0006302 micropapillary serous carcinoma skos:exactMatch MEDGEN:825423 semapv:UnspecifiedMatching MONDO:0006302 micropapillary serous carcinoma skos:exactMatch NCIT:C6882 Micropapillary Serous Carcinoma semapv:UnspecifiedMatching MONDO:0006302 micropapillary serous carcinoma skos:exactMatch UMLS:C3839578 semapv:UnspecifiedMatching MONDO:0006303 middle ear squamous cell carcinoma skos:exactMatch DOID:5526 middle ear squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0006303 middle ear squamous cell carcinoma skos:exactMatch EFO:1000378 semapv:UnspecifiedMatching MONDO:0006303 middle ear squamous cell carcinoma skos:exactMatch MEDGEN:233191 semapv:UnspecifiedMatching MONDO:0006303 middle ear squamous cell carcinoma skos:exactMatch NCIT:C6086 Middle Ear Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0006303 middle ear squamous cell carcinoma skos:exactMatch UMLS:C1334762 semapv:UnspecifiedMatching MONDO:0006304 minor salivary gland adenocarcinoma skos:exactMatch EFO:1000379 semapv:UnspecifiedMatching MONDO:0006304 minor salivary gland adenocarcinoma skos:exactMatch MEDGEN:235328 semapv:UnspecifiedMatching MONDO:0006304 minor salivary gland adenocarcinoma skos:exactMatch NCIT:C5948 Minor Salivary Gland Adenocarcinoma semapv:UnspecifiedMatching MONDO:0006304 minor salivary gland adenocarcinoma skos:exactMatch UMLS:C1334768 semapv:UnspecifiedMatching MONDO:0006306 mixed lobular and ductal breast carcinoma skos:exactMatch EFO:1000382 semapv:UnspecifiedMatching MONDO:0006306 mixed lobular and ductal breast carcinoma skos:exactMatch MEDGEN:1779609 semapv:UnspecifiedMatching MONDO:0006306 mixed lobular and ductal breast carcinoma skos:exactMatch NCIT:C5160 Breast Mixed Ductal and Lobular Carcinoma semapv:UnspecifiedMatching MONDO:0006306 mixed lobular and ductal breast carcinoma skos:exactMatch SCTID:444604002 semapv:UnspecifiedMatching MONDO:0006306 mixed lobular and ductal breast carcinoma skos:exactMatch UMLS:C5441546 semapv:UnspecifiedMatching MONDO:0006307 mixed somatotroph-lactotroph pituitary gland adenoma skos:exactMatch EFO:1000383 semapv:UnspecifiedMatching MONDO:0006307 mixed somatotroph-lactotroph pituitary gland adenoma skos:exactMatch MEDGEN:353936 semapv:UnspecifiedMatching MONDO:0006307 mixed somatotroph-lactotroph pituitary gland adenoma skos:exactMatch NCIT:C45927 Mixed Somatotroph and Lactotroph Pituitary Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO:0006307 mixed somatotroph-lactotroph pituitary gland adenoma skos:exactMatch UMLS:C1709052 semapv:UnspecifiedMatching MONDO:0006309 mucinous gastric adenocarcinoma skos:exactMatch DOID:3716 mucinous stomach adenocarcinoma semapv:UnspecifiedMatching MONDO:0006309 mucinous gastric adenocarcinoma skos:exactMatch EFO:1000386 semapv:UnspecifiedMatching MONDO:0006309 mucinous gastric adenocarcinoma skos:exactMatch MEDGEN:235338 semapv:UnspecifiedMatching MONDO:0006309 mucinous gastric adenocarcinoma skos:exactMatch NCIT:C5248 Gastric Mucinous Adenocarcinoma semapv:UnspecifiedMatching MONDO:0006309 mucinous gastric adenocarcinoma skos:exactMatch UMLS:C1334809 semapv:UnspecifiedMatching MONDO:0006311 myelodysplastic/myeloproliferative neoplasm skos:exactMatch DOID:4972 myelodysplastic/myeloproliferative neoplasm semapv:UnspecifiedMatching MONDO:0006311 myelodysplastic/myeloproliferative neoplasm skos:exactMatch EFO:1000388 semapv:UnspecifiedMatching MONDO:0006311 myelodysplastic/myeloproliferative neoplasm skos:exactMatch MEDGEN:226981 semapv:UnspecifiedMatching MONDO:0006311 myelodysplastic/myeloproliferative neoplasm skos:exactMatch NCIT:C27262 Myelodysplastic/Myeloproliferative Neoplasm semapv:UnspecifiedMatching MONDO:0006311 myelodysplastic/myeloproliferative neoplasm skos:exactMatch SCTID:445738007 semapv:UnspecifiedMatching MONDO:0006311 myelodysplastic/myeloproliferative neoplasm skos:exactMatch UMLS:C1301355 semapv:UnspecifiedMatching MONDO:0006312 myofibroma skos:exactMatch DOID:4386 myofibroma semapv:UnspecifiedMatching MONDO:0006312 myofibroma skos:exactMatch EFO:1000389 semapv:UnspecifiedMatching MONDO:0006312 myofibroma skos:exactMatch MEDGEN:220420 semapv:UnspecifiedMatching MONDO:0006312 myofibroma skos:exactMatch NCIT:C7052 Myofibroma semapv:UnspecifiedMatching MONDO:0006312 myofibroma skos:exactMatch UMLS:C1266121 semapv:UnspecifiedMatching MONDO:0006312 myofibroma skos:exactMatch mesh:D047708 semapv:UnspecifiedMatching MONDO:0006313 nabothian cyst skos:exactMatch EFO:1000390 semapv:UnspecifiedMatching MONDO:0006313 nabothian cyst skos:exactMatch MEDGEN:6510 semapv:UnspecifiedMatching MONDO:0006313 nabothian cyst skos:exactMatch NCIT:C34835 Nabothian Cyst semapv:UnspecifiedMatching MONDO:0006313 nabothian cyst skos:exactMatch SCTID:24565001 semapv:UnspecifiedMatching MONDO:0006313 nabothian cyst skos:exactMatch UMLS:C0027269 semapv:UnspecifiedMatching MONDO:0006313 nabothian cyst skos:exactMatch icd11.foundation:1329172977 Nabothian cyst semapv:UnspecifiedMatching MONDO:0006314 nasal cavity polyp skos:exactMatch EFO:1000391 semapv:UnspecifiedMatching MONDO:0006314 nasal cavity polyp skos:exactMatch ICD10CM:J33.0 Polyp of nasal cavity semapv:UnspecifiedMatching MONDO:0006314 nasal cavity polyp skos:exactMatch MEDGEN:6524 semapv:UnspecifiedMatching MONDO:0006314 nasal cavity polyp skos:exactMatch NCIT:C3256 Nasal Cavity Polyp semapv:UnspecifiedMatching MONDO:0006314 nasal cavity polyp skos:exactMatch SCTID:52756005 semapv:UnspecifiedMatching MONDO:0006314 nasal cavity polyp skos:exactMatch UMLS:C0027430 semapv:UnspecifiedMatching MONDO:0006314 nasal cavity polyp skos:exactMatch mesh:D009298 semapv:UnspecifiedMatching MONDO:0006315 obsolete neoplastic medium-sized B-lymphocyte with basophilic cytoplasm skos:exactMatch NCIT:C37005 Neoplastic Medium-Sized B-Lymphocyte with Basophilic Cytoplasm semapv:UnspecifiedMatching MONDO:0006316 neuroblastic tumor skos:exactMatch EFO:1000393 semapv:UnspecifiedMatching MONDO:0006316 neuroblastic tumor skos:exactMatch MEDGEN:233228 semapv:UnspecifiedMatching MONDO:0006316 neuroblastic tumor skos:exactMatch NCIT:C6963 Neuroblastic Tumor semapv:UnspecifiedMatching MONDO:0006316 neuroblastic tumor skos:exactMatch UMLS:C1334953 semapv:UnspecifiedMatching MONDO:0006317 neurothekeoma skos:exactMatch EFO:1000394 semapv:UnspecifiedMatching MONDO:0006317 neurothekeoma skos:exactMatch MEDGEN:64641 semapv:UnspecifiedMatching MONDO:0006317 neurothekeoma skos:exactMatch NCIT:C7018 Nerve Sheath Myxoma semapv:UnspecifiedMatching MONDO:0006317 neurothekeoma skos:exactMatch UMLS:C0206730 semapv:UnspecifiedMatching MONDO:0006317 neurothekeoma skos:exactMatch mesh:D018321 semapv:UnspecifiedMatching MONDO:0006320 non-cutaneous melanoma skos:exactMatch EFO:1000397 semapv:UnspecifiedMatching MONDO:0006320 non-cutaneous melanoma skos:exactMatch MEDGEN:233761 semapv:UnspecifiedMatching MONDO:0006320 non-cutaneous melanoma skos:exactMatch NCIT:C8711 Non-Cutaneous Melanoma semapv:UnspecifiedMatching MONDO:0006320 non-cutaneous melanoma skos:exactMatch UMLS:C1334974 semapv:UnspecifiedMatching MONDO:0006321 non-functioning adrenal cortex adenoma skos:exactMatch EFO:1000399 semapv:UnspecifiedMatching MONDO:0006321 non-functioning adrenal cortex adenoma skos:exactMatch MEDGEN:313501 semapv:UnspecifiedMatching MONDO:0006321 non-functioning adrenal cortex adenoma skos:exactMatch NCIT:C48458 Non-Functioning Adrenal Cortical Adenoma semapv:UnspecifiedMatching MONDO:0006321 non-functioning adrenal cortex adenoma skos:exactMatch UMLS:C1709240 semapv:UnspecifiedMatching MONDO:0006322 non-neoplastic bile duct disorder skos:exactMatch EFO:1000400 semapv:UnspecifiedMatching MONDO:0006322 non-neoplastic bile duct disorder skos:exactMatch MEDGEN:476793 semapv:UnspecifiedMatching MONDO:0006322 non-neoplastic bile duct disorder skos:exactMatch NCIT:C35774 Non-Neoplastic Bile Duct Disorder semapv:UnspecifiedMatching MONDO:0006322 non-neoplastic bile duct disorder skos:exactMatch UMLS:C3275160 semapv:UnspecifiedMatching MONDO:0006323 non-seminomatous lesion skos:exactMatch MEDGEN:233785 semapv:UnspecifiedMatching MONDO:0006323 non-seminomatous lesion skos:exactMatch UMLS:C1335059 semapv:UnspecifiedMatching MONDO:0006324 normal breast-like subtype of breast carcinoma skos:exactMatch EFO:1000402 semapv:UnspecifiedMatching MONDO:0006324 normal breast-like subtype of breast carcinoma skos:exactMatch MEDGEN:771111 semapv:UnspecifiedMatching MONDO:0006324 normal breast-like subtype of breast carcinoma skos:exactMatch NCIT:C53557 Normal Breast-Like Subtype of Breast Carcinoma semapv:UnspecifiedMatching MONDO:0006324 normal breast-like subtype of breast carcinoma skos:exactMatch UMLS:C3642471 semapv:UnspecifiedMatching MONDO:0006325 ocular melanoma skos:exactMatch DOID:1752 ocular melanoma semapv:UnspecifiedMatching MONDO:0006325 ocular melanoma skos:exactMatch EFO:1000403 semapv:UnspecifiedMatching MONDO:0006325 ocular melanoma skos:exactMatch MEDGEN:107846 semapv:UnspecifiedMatching MONDO:0006325 ocular melanoma skos:exactMatch NCIT:C8562 Ocular Melanoma semapv:UnspecifiedMatching MONDO:0006325 ocular melanoma skos:exactMatch UMLS:C0558356 semapv:UnspecifiedMatching MONDO:0006326 ocular melanoma with extraocular extension skos:exactMatch MEDGEN:75884 semapv:UnspecifiedMatching MONDO:0006326 ocular melanoma with extraocular extension skos:exactMatch NCIT:C7913 Ocular Melanoma with Extraocular Extension semapv:UnspecifiedMatching MONDO:0006326 ocular melanoma with extraocular extension skos:exactMatch UMLS:C0278869 semapv:UnspecifiedMatching MONDO:0006327 ocular sebaceous carcinoma skos:exactMatch EFO:1000405 semapv:UnspecifiedMatching MONDO:0006327 ocular sebaceous carcinoma skos:exactMatch MEDGEN:317974 semapv:UnspecifiedMatching MONDO:0006327 ocular sebaceous carcinoma skos:exactMatch NCIT:C43340 Eye Sebaceous Carcinoma semapv:UnspecifiedMatching MONDO:0006327 ocular sebaceous carcinoma skos:exactMatch UMLS:C1709308 semapv:UnspecifiedMatching MONDO:0006328 odontogenic cyst skos:exactMatch EFO:1000406 semapv:UnspecifiedMatching MONDO:0006328 odontogenic cyst skos:exactMatch MEDGEN:14461 semapv:UnspecifiedMatching MONDO:0006328 odontogenic cyst skos:exactMatch NCIT:C54220 Odontogenic Cyst semapv:UnspecifiedMatching MONDO:0006328 odontogenic cyst skos:exactMatch SCTID:235110008 semapv:UnspecifiedMatching MONDO:0006328 odontogenic cyst skos:exactMatch UMLS:C0028879 semapv:UnspecifiedMatching MONDO:0006328 odontogenic cyst skos:exactMatch mesh:D009807 semapv:UnspecifiedMatching MONDO:0006329 olfactory neuroblastoma skos:exactMatch DOID:369 olfactory neuroblastoma semapv:UnspecifiedMatching MONDO:0006329 olfactory neuroblastoma skos:exactMatch EFO:1000407 semapv:UnspecifiedMatching MONDO:0006329 olfactory neuroblastoma skos:exactMatch NCIT:C3789 Olfactory Neuroblastoma semapv:UnspecifiedMatching MONDO:0006329 olfactory neuroblastoma skos:exactMatch icd11.foundation:2007774165 Olfactory neuroblastoma semapv:UnspecifiedMatching MONDO:0006330 ossifying fibromyxoid tumor skos:exactMatch DOID:2685 ossifying fibromyxoid tumor semapv:UnspecifiedMatching MONDO:0006330 ossifying fibromyxoid tumor skos:exactMatch EFO:1000408 semapv:UnspecifiedMatching MONDO:0006330 ossifying fibromyxoid tumor skos:exactMatch MEDGEN:226846 semapv:UnspecifiedMatching MONDO:0006330 ossifying fibromyxoid tumor skos:exactMatch NCIT:C6582 Ossifying Fibromyxoid Tumor semapv:UnspecifiedMatching MONDO:0006330 ossifying fibromyxoid tumor skos:exactMatch SCTID:404076001 semapv:UnspecifiedMatching MONDO:0006330 ossifying fibromyxoid tumor skos:exactMatch UMLS:C1266128 semapv:UnspecifiedMatching MONDO:0006335 ovarian endometrioid adenocarcinoma skos:exactMatch DOID:5828 endometrioid ovary carcinoma semapv:UnspecifiedMatching MONDO:0006335 ovarian endometrioid adenocarcinoma skos:exactMatch EFO:1000416 semapv:UnspecifiedMatching MONDO:0006335 ovarian endometrioid adenocarcinoma skos:exactMatch MEDGEN:91087 semapv:UnspecifiedMatching MONDO:0006335 ovarian endometrioid adenocarcinoma skos:exactMatch NCIT:C7979 Ovarian Endometrioid Adenocarcinoma semapv:UnspecifiedMatching MONDO:0006335 ovarian endometrioid adenocarcinoma skos:exactMatch Orphanet:454723 Endometrioid carcinoma of ovary semapv:UnspecifiedMatching MONDO:0006335 ovarian endometrioid adenocarcinoma skos:exactMatch SCTID:254852002 semapv:UnspecifiedMatching MONDO:0006335 ovarian endometrioid adenocarcinoma skos:exactMatch UMLS:C0346163 semapv:UnspecifiedMatching MONDO:0006336 ovarian endometrioid adenocarcinoma with squamous differentiation skos:exactMatch EFO:1000417 semapv:UnspecifiedMatching MONDO:0006336 ovarian endometrioid adenocarcinoma with squamous differentiation skos:exactMatch MEDGEN:389178 semapv:UnspecifiedMatching MONDO:0006336 ovarian endometrioid adenocarcinoma with squamous differentiation skos:exactMatch NCIT:C40061 Ovarian Endometrioid Adenocarcinoma with Squamous Differentiation semapv:UnspecifiedMatching MONDO:0006336 ovarian endometrioid adenocarcinoma with squamous differentiation skos:exactMatch UMLS:C2212017 semapv:UnspecifiedMatching MONDO:0006337 ovarian endometriosis skos:exactMatch DOID:11432 endometriosis of ovary semapv:UnspecifiedMatching MONDO:0006337 ovarian endometriosis skos:exactMatch EFO:1000418 semapv:UnspecifiedMatching MONDO:0006337 ovarian endometriosis skos:exactMatch ICD10CM:N80.1 Endometriosis of ovary semapv:UnspecifiedMatching MONDO:0006337 ovarian endometriosis skos:exactMatch MEDGEN:102350 semapv:UnspecifiedMatching MONDO:0006337 ovarian endometriosis skos:exactMatch NCIT:C27628 Ovarian Endometriosis semapv:UnspecifiedMatching MONDO:0006337 ovarian endometriosis skos:exactMatch SCTID:266589005 semapv:UnspecifiedMatching MONDO:0006337 ovarian endometriosis skos:exactMatch UMLS:C0156344 semapv:UnspecifiedMatching MONDO:0006339 ovarian microcystic stromal tumor skos:exactMatch EFO:1000424 semapv:UnspecifiedMatching MONDO:0006339 ovarian microcystic stromal tumor skos:exactMatch MEDGEN:889995 semapv:UnspecifiedMatching MONDO:0006339 ovarian microcystic stromal tumor skos:exactMatch NCIT:C121953 Ovarian Microcystic Stromal Tumor semapv:UnspecifiedMatching MONDO:0006339 ovarian microcystic stromal tumor skos:exactMatch Orphanet:569248 Microcystic stromal tumor semapv:UnspecifiedMatching MONDO:0006339 ovarian microcystic stromal tumor skos:exactMatch UMLS:C4054287 semapv:UnspecifiedMatching MONDO:0006340 ovarian serous adenofibroma skos:exactMatch DOID:5474 ovarian serous adenofibroma semapv:UnspecifiedMatching MONDO:0006340 ovarian serous adenofibroma skos:exactMatch EFO:1000428 semapv:UnspecifiedMatching MONDO:0006340 ovarian serous adenofibroma skos:exactMatch MEDGEN:309514 semapv:UnspecifiedMatching MONDO:0006340 ovarian serous adenofibroma skos:exactMatch NCIT:C40031 Ovarian Serous Adenofibroma semapv:UnspecifiedMatching MONDO:0006340 ovarian serous adenofibroma skos:exactMatch UMLS:C1518729 semapv:UnspecifiedMatching MONDO:0006343 ovarian transitional cell carcinoma skos:exactMatch DOID:4000 ovary transitional cell carcinoma semapv:UnspecifiedMatching MONDO:0006343 ovarian transitional cell carcinoma skos:exactMatch EFO:1000435 semapv:UnspecifiedMatching MONDO:0006343 ovarian transitional cell carcinoma skos:exactMatch MEDGEN:233811 semapv:UnspecifiedMatching MONDO:0006343 ovarian transitional cell carcinoma skos:exactMatch NCIT:C5240 Ovarian Transitional Cell Carcinoma semapv:UnspecifiedMatching MONDO:0006343 ovarian transitional cell carcinoma skos:exactMatch UMLS:C1335184 semapv:UnspecifiedMatching MONDO:0006344 ovarian yolk sac tumor skos:exactMatch DOID:5350 ovarian endodermal sinus tumor semapv:UnspecifiedMatching MONDO:0006344 ovarian yolk sac tumor skos:exactMatch EFO:1000437 semapv:UnspecifiedMatching MONDO:0006344 ovarian yolk sac tumor skos:exactMatch MEDGEN:83415 semapv:UnspecifiedMatching MONDO:0006344 ovarian yolk sac tumor skos:exactMatch NCIT:C8107 Ovarian Yolk Sac Tumor semapv:UnspecifiedMatching MONDO:0006344 ovarian yolk sac tumor skos:exactMatch SCTID:254876005 semapv:UnspecifiedMatching MONDO:0006344 ovarian yolk sac tumor skos:exactMatch UMLS:C0346188 semapv:UnspecifiedMatching MONDO:0006345 palmar fibromatosis skos:exactMatch EFO:1000438 semapv:UnspecifiedMatching MONDO:0006345 palmar fibromatosis skos:exactMatch MEDGEN:903450 semapv:UnspecifiedMatching MONDO:0006345 palmar fibromatosis skos:exactMatch NCIT:C3469 Palmar Fibromatosis semapv:UnspecifiedMatching MONDO:0006345 palmar fibromatosis skos:exactMatch SCTID:203045001 semapv:UnspecifiedMatching MONDO:0006345 palmar fibromatosis skos:exactMatch UMLS:C4085370 semapv:UnspecifiedMatching MONDO:0006345 palmar fibromatosis skos:exactMatch icd11.foundation:160345690 Palmar fascial fibromatosis semapv:UnspecifiedMatching MONDO:0006345 palmar fibromatosis skos:exactMatch mesh:D004387 semapv:UnspecifiedMatching MONDO:0006346 pancreatic acinar cell carcinoma skos:exactMatch DOID:5742 pancreatic acinar cell adenocarcinoma semapv:UnspecifiedMatching MONDO:0006346 pancreatic acinar cell carcinoma skos:exactMatch EFO:1000439 semapv:UnspecifiedMatching MONDO:0006346 pancreatic acinar cell carcinoma skos:exactMatch MEDGEN:83540 semapv:UnspecifiedMatching MONDO:0006346 pancreatic acinar cell carcinoma skos:exactMatch NCIT:C7977 Pancreatic Acinar Cell Carcinoma semapv:UnspecifiedMatching MONDO:0006346 pancreatic acinar cell carcinoma skos:exactMatch Orphanet:424046 Acinar cell carcinoma of pancreas semapv:UnspecifiedMatching MONDO:0006346 pancreatic acinar cell carcinoma skos:exactMatch UMLS:C0279661 semapv:UnspecifiedMatching MONDO:0006346 pancreatic acinar cell carcinoma skos:exactMatch icd11.foundation:449785448 Acinar cell carcinoma of pancreas semapv:UnspecifiedMatching MONDO:0006347 pancreatic large cell neuroendocrine carcinoma skos:exactMatch EFO:1000442 semapv:UnspecifiedMatching MONDO:0006347 pancreatic large cell neuroendocrine carcinoma skos:exactMatch MEDGEN:459465 semapv:UnspecifiedMatching MONDO:0006347 pancreatic large cell neuroendocrine carcinoma skos:exactMatch NCIT:C95582 Pancreatic Large Cell Neuroendocrine Carcinoma semapv:UnspecifiedMatching MONDO:0006347 pancreatic large cell neuroendocrine carcinoma skos:exactMatch UMLS:C2987239 semapv:UnspecifiedMatching MONDO:0006348 pancreatic small cell neuroendocrine carcinoma skos:exactMatch EFO:1000444 semapv:UnspecifiedMatching MONDO:0006348 pancreatic small cell neuroendocrine carcinoma skos:exactMatch MEDGEN:459466 semapv:UnspecifiedMatching MONDO:0006348 pancreatic small cell neuroendocrine carcinoma skos:exactMatch NCIT:C95583 Pancreatic Small Cell Neuroendocrine Carcinoma semapv:UnspecifiedMatching MONDO:0006348 pancreatic small cell neuroendocrine carcinoma skos:exactMatch UMLS:C2987240 semapv:UnspecifiedMatching MONDO:0006349 papillary cystic neoplasm skos:exactMatch EFO:1000448 semapv:UnspecifiedMatching MONDO:0006349 papillary cystic neoplasm skos:exactMatch MEDGEN:137749 semapv:UnspecifiedMatching MONDO:0006349 papillary cystic neoplasm skos:exactMatch NCIT:C4179 Papillary Cystic Neoplasm semapv:UnspecifiedMatching MONDO:0006349 papillary cystic neoplasm skos:exactMatch UMLS:C0334357 semapv:UnspecifiedMatching MONDO:0006350 papillary transitional cell carcinoma skos:exactMatch DOID:4012 papillary transitional carcinoma semapv:UnspecifiedMatching MONDO:0006350 papillary transitional cell carcinoma skos:exactMatch EFO:1000450 semapv:UnspecifiedMatching MONDO:0006350 papillary transitional cell carcinoma skos:exactMatch MEDGEN:137736 semapv:UnspecifiedMatching MONDO:0006350 papillary transitional cell carcinoma skos:exactMatch UMLS:C0334274 semapv:UnspecifiedMatching MONDO:0006351 parachordoma skos:exactMatch DOID:2647 parachordoma semapv:UnspecifiedMatching MONDO:0006351 parachordoma skos:exactMatch EFO:1000452 semapv:UnspecifiedMatching MONDO:0006351 parachordoma skos:exactMatch MEDGEN:266108 semapv:UnspecifiedMatching MONDO:0006351 parachordoma skos:exactMatch NCIT:C6581 Parachordoma semapv:UnspecifiedMatching MONDO:0006351 parachordoma skos:exactMatch SCTID:404086000 semapv:UnspecifiedMatching MONDO:0006351 parachordoma skos:exactMatch UMLS:C1266175 semapv:UnspecifiedMatching MONDO:0006352 paranasal sinus adenoid cystic carcinoma skos:exactMatch MEDGEN:233840 semapv:UnspecifiedMatching MONDO:0006352 paranasal sinus adenoid cystic carcinoma skos:exactMatch NCIT:C6019 Paranasal Sinus Adenoid Cystic Carcinoma semapv:UnspecifiedMatching MONDO:0006352 paranasal sinus adenoid cystic carcinoma skos:exactMatch UMLS:C1335337 semapv:UnspecifiedMatching MONDO:0006353 paranasal sinus Schneiderian papilloma skos:exactMatch MEDGEN:235462 semapv:UnspecifiedMatching MONDO:0006353 paranasal sinus Schneiderian papilloma skos:exactMatch NCIT:C6835 Paranasal Sinus Papilloma semapv:UnspecifiedMatching MONDO:0006353 paranasal sinus Schneiderian papilloma skos:exactMatch UMLS:C1335343 semapv:UnspecifiedMatching MONDO:0006354 parathyroid hyperplasia skos:exactMatch EFO:1000457 semapv:UnspecifiedMatching MONDO:0006354 parathyroid hyperplasia skos:exactMatch MEDGEN:75767 semapv:UnspecifiedMatching MONDO:0006354 parathyroid hyperplasia skos:exactMatch NCIT:C3989 Parathyroid Gland Hyperplasia semapv:UnspecifiedMatching MONDO:0006354 parathyroid hyperplasia skos:exactMatch SCTID:9092004 semapv:UnspecifiedMatching MONDO:0006354 parathyroid hyperplasia skos:exactMatch UMLS:C0271844 semapv:UnspecifiedMatching MONDO:0006355 parotid gland acinic cell carcinoma skos:exactMatch EFO:1000458 semapv:UnspecifiedMatching MONDO:0006355 parotid gland acinic cell carcinoma skos:exactMatch MEDGEN:277501 semapv:UnspecifiedMatching MONDO:0006355 parotid gland acinic cell carcinoma skos:exactMatch NCIT:C5933 Parotid Gland Acinic Cell Carcinoma semapv:UnspecifiedMatching MONDO:0006355 parotid gland acinic cell carcinoma skos:exactMatch UMLS:C1335353 semapv:UnspecifiedMatching MONDO:0006356 parotid gland adenoid cystic carcinoma skos:exactMatch DOID:0050931 parotid gland adenoid cystic carcinoma semapv:UnspecifiedMatching MONDO:0006356 parotid gland adenoid cystic carcinoma skos:exactMatch EFO:1000459 semapv:UnspecifiedMatching MONDO:0006356 parotid gland adenoid cystic carcinoma skos:exactMatch MEDGEN:277502 semapv:UnspecifiedMatching MONDO:0006356 parotid gland adenoid cystic carcinoma skos:exactMatch NCIT:C5937 Parotid Gland Adenoid Cystic Carcinoma semapv:UnspecifiedMatching MONDO:0006356 parotid gland adenoid cystic carcinoma skos:exactMatch SCTID:423615009 semapv:UnspecifiedMatching MONDO:0006356 parotid gland adenoid cystic carcinoma skos:exactMatch UMLS:C1335355 semapv:UnspecifiedMatching MONDO:0006357 parotid gland carcinoma ex pleomorphic adenoma skos:exactMatch EFO:1000461 semapv:UnspecifiedMatching MONDO:0006357 parotid gland carcinoma ex pleomorphic adenoma skos:exactMatch MEDGEN:233311 semapv:UnspecifiedMatching MONDO:0006357 parotid gland carcinoma ex pleomorphic adenoma skos:exactMatch NCIT:C5974 Parotid Gland Carcinoma ex Pleomorphic Adenoma semapv:UnspecifiedMatching MONDO:0006357 parotid gland carcinoma ex pleomorphic adenoma skos:exactMatch SCTID:425127006 semapv:UnspecifiedMatching MONDO:0006357 parotid gland carcinoma ex pleomorphic adenoma skos:exactMatch UMLS:C1335356 semapv:UnspecifiedMatching MONDO:0006358 parotid gland squamous cell carcinoma skos:exactMatch EFO:1000463 semapv:UnspecifiedMatching MONDO:0006358 parotid gland squamous cell carcinoma skos:exactMatch MEDGEN:233317 semapv:UnspecifiedMatching MONDO:0006358 parotid gland squamous cell carcinoma skos:exactMatch NCIT:C5942 Parotid Gland Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0006358 parotid gland squamous cell carcinoma skos:exactMatch UMLS:C1335367 semapv:UnspecifiedMatching MONDO:0006358 parotid gland squamous cell carcinoma skos:exactMatch icd11.foundation:552798341 Squamous cell carcinoma of parotid gland semapv:UnspecifiedMatching MONDO:0006359 neoplasm with perivascular epithelioid cell differentiation skos:exactMatch DOID:2643 perivascular epithelioid cell tumor semapv:UnspecifiedMatching MONDO:0006359 neoplasm with perivascular epithelioid cell differentiation skos:exactMatch EFO:1000464 semapv:UnspecifiedMatching MONDO:0006359 neoplasm with perivascular epithelioid cell differentiation skos:exactMatch MEDGEN:266246 semapv:UnspecifiedMatching MONDO:0006359 neoplasm with perivascular epithelioid cell differentiation skos:exactMatch NCIT:C38150 PEComa semapv:UnspecifiedMatching MONDO:0006359 neoplasm with perivascular epithelioid cell differentiation skos:exactMatch Orphanet:595133 Perivascular epithelioid cell neoplasm semapv:UnspecifiedMatching MONDO:0006359 neoplasm with perivascular epithelioid cell differentiation skos:exactMatch UMLS:C1300127 semapv:UnspecifiedMatching MONDO:0006359 neoplasm with perivascular epithelioid cell differentiation skos:exactMatch mesh:D054973 semapv:UnspecifiedMatching MONDO:0006360 penile carcinoma skos:exactMatch DOID:3449 penis carcinoma semapv:UnspecifiedMatching MONDO:0006360 penile carcinoma skos:exactMatch EFO:1000465 semapv:UnspecifiedMatching MONDO:0006360 penile carcinoma skos:exactMatch MEDGEN:208877 semapv:UnspecifiedMatching MONDO:0006360 penile carcinoma skos:exactMatch NCIT:C9061 Penile Carcinoma semapv:UnspecifiedMatching MONDO:0006360 penile carcinoma skos:exactMatch SCTID:372106005 semapv:UnspecifiedMatching MONDO:0006360 penile carcinoma skos:exactMatch UMLS:C0853105 semapv:UnspecifiedMatching MONDO:0006361 obsolete penile fibromatosis skos:exactMatch EFO:1000466 semapv:UnspecifiedMatching MONDO:0006362 peritoneal mesothelioma skos:exactMatch EFO:1000467 semapv:UnspecifiedMatching MONDO:0006362 peritoneal mesothelioma skos:exactMatch ICD10CM:C45.1 Mesothelioma of peritoneum semapv:UnspecifiedMatching MONDO:0006362 peritoneal mesothelioma skos:exactMatch MEDGEN:237171 semapv:UnspecifiedMatching MONDO:0006362 peritoneal mesothelioma skos:exactMatch NCIT:C7633 Peritoneal Mesothelial Neoplasm semapv:UnspecifiedMatching MONDO:0006362 peritoneal mesothelioma skos:exactMatch SCTID:109853004 semapv:UnspecifiedMatching MONDO:0006362 peritoneal mesothelioma skos:exactMatch UMLS:C1377610 semapv:UnspecifiedMatching MONDO:0006363 peritoneal multicystic mesothelioma skos:exactMatch EFO:1000468 semapv:UnspecifiedMatching MONDO:0006363 peritoneal multicystic mesothelioma skos:exactMatch MEDGEN:233198 semapv:UnspecifiedMatching MONDO:0006363 peritoneal multicystic mesothelioma skos:exactMatch NCIT:C6536 Peritoneal Multicystic Mesothelioma semapv:UnspecifiedMatching MONDO:0006363 peritoneal multicystic mesothelioma skos:exactMatch Orphanet:168816 Peritoneal inclusion cyst semapv:UnspecifiedMatching MONDO:0006363 peritoneal multicystic mesothelioma skos:exactMatch SCTID:716650003 semapv:UnspecifiedMatching MONDO:0006363 peritoneal multicystic mesothelioma skos:exactMatch UMLS:C1334818 semapv:UnspecifiedMatching MONDO:0006364 peritoneal well differentiated papillary mesothelioma skos:exactMatch EFO:1000469 semapv:UnspecifiedMatching MONDO:0006364 peritoneal well differentiated papillary mesothelioma skos:exactMatch MEDGEN:318015 semapv:UnspecifiedMatching MONDO:0006364 peritoneal well differentiated papillary mesothelioma skos:exactMatch NCIT:C45661 Peritoneal Well Differentiated Papillary Mesothelial Tumor semapv:UnspecifiedMatching MONDO:0006364 peritoneal well differentiated papillary mesothelioma skos:exactMatch Orphanet:676033 Well-differentiated papillary mesothelial tumour of the peritoneum semapv:UnspecifiedMatching MONDO:0006364 peritoneal well differentiated papillary mesothelioma skos:exactMatch UMLS:C1709507 semapv:UnspecifiedMatching MONDO:0006365 Peutz-Jeghers polyp skos:exactMatch EFO:1000470 semapv:UnspecifiedMatching MONDO:0006365 Peutz-Jeghers polyp skos:exactMatch MEDGEN:141582 semapv:UnspecifiedMatching MONDO:0006365 Peutz-Jeghers polyp skos:exactMatch NCIT:C4733 Peutz-Jeghers Polyp semapv:UnspecifiedMatching MONDO:0006365 Peutz-Jeghers polyp skos:exactMatch UMLS:C0456487 semapv:UnspecifiedMatching MONDO:0006366 Peutz-Jeghers polyp of the stomach skos:exactMatch MEDGEN:233323 semapv:UnspecifiedMatching MONDO:0006366 Peutz-Jeghers polyp of the stomach skos:exactMatch NCIT:C36205 Peutz-Jeghers Polyp of the Stomach semapv:UnspecifiedMatching MONDO:0006366 Peutz-Jeghers polyp of the stomach skos:exactMatch UMLS:C1335398 semapv:UnspecifiedMatching MONDO:0006367 pharyngeal adenoid cystic carcinoma skos:exactMatch MEDGEN:233324 semapv:UnspecifiedMatching MONDO:0006367 pharyngeal adenoid cystic carcinoma skos:exactMatch NCIT:C5818 Pharyngeal Adenoid Cystic Carcinoma semapv:UnspecifiedMatching MONDO:0006367 pharyngeal adenoid cystic carcinoma skos:exactMatch UMLS:C1335399 semapv:UnspecifiedMatching MONDO:0006368 phosphaturic mesenchymal tumor skos:exactMatch EFO:1000473 semapv:UnspecifiedMatching MONDO:0006368 phosphaturic mesenchymal tumor skos:exactMatch MEDGEN:371179 semapv:UnspecifiedMatching MONDO:0006368 phosphaturic mesenchymal tumor skos:exactMatch NCIT:C67237 Phosphaturic Mesenchymal Tumor semapv:UnspecifiedMatching MONDO:0006368 phosphaturic mesenchymal tumor skos:exactMatch UMLS:C1831619 semapv:UnspecifiedMatching MONDO:0006369 pineal parenchymal tumor of intermediate differentiation skos:exactMatch DOID:5030 pineal parenchymal tumor of intermediate differentiation semapv:UnspecifiedMatching MONDO:0006369 pineal parenchymal tumor of intermediate differentiation skos:exactMatch EFO:1000474 semapv:UnspecifiedMatching MONDO:0006369 pineal parenchymal tumor of intermediate differentiation skos:exactMatch MEDGEN:234566 semapv:UnspecifiedMatching MONDO:0006369 pineal parenchymal tumor of intermediate differentiation skos:exactMatch NCIT:C6967 Pineal Parenchymal Tumor of Intermediate Differentiation semapv:UnspecifiedMatching MONDO:0006369 pineal parenchymal tumor of intermediate differentiation skos:exactMatch Orphanet:251919 Pineal parenchymal tumor of intermediate differentiation semapv:UnspecifiedMatching MONDO:0006369 pineal parenchymal tumor of intermediate differentiation skos:exactMatch SCTID:715904005 semapv:UnspecifiedMatching MONDO:0006369 pineal parenchymal tumor of intermediate differentiation skos:exactMatch UMLS:C1367859 semapv:UnspecifiedMatching MONDO:0006372 pituicytoma skos:exactMatch DOID:0081280 pituicytoma semapv:UnspecifiedMatching MONDO:0006372 pituicytoma skos:exactMatch EFO:1000477 semapv:UnspecifiedMatching MONDO:0006372 pituicytoma skos:exactMatch MEDGEN:458776 semapv:UnspecifiedMatching MONDO:0006372 pituicytoma skos:exactMatch NCIT:C94524 Pituicytoma semapv:UnspecifiedMatching MONDO:0006372 pituicytoma skos:exactMatch Orphanet:251623 Pituicytoma semapv:UnspecifiedMatching MONDO:0006372 pituicytoma skos:exactMatch SCTID:608817003 semapv:UnspecifiedMatching MONDO:0006372 pituicytoma skos:exactMatch UMLS:C2986550 semapv:UnspecifiedMatching MONDO:0006373 pituitary gland adenoma skos:exactMatch DOID:3829 pituitary adenoma semapv:UnspecifiedMatching MONDO:0006373 pituitary gland adenoma skos:exactMatch EFO:1000478 semapv:UnspecifiedMatching MONDO:0006373 pituitary gland adenoma skos:exactMatch MEDGEN:45933 semapv:UnspecifiedMatching MONDO:0006373 pituitary gland adenoma skos:exactMatch NCIT:C3329 Pituitary Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO:0006373 pituitary gland adenoma skos:exactMatch Orphanet:99408 Pituitary adenoma semapv:UnspecifiedMatching MONDO:0006373 pituitary gland adenoma skos:exactMatch SCTID:254956000 semapv:UnspecifiedMatching MONDO:0006373 pituitary gland adenoma skos:exactMatch UMLS:C0032000 semapv:UnspecifiedMatching MONDO:0006374 placental choriocarcinoma skos:exactMatch DOID:2024 placental choriocarcinoma semapv:UnspecifiedMatching MONDO:0006374 placental choriocarcinoma skos:exactMatch EFO:1000479 semapv:UnspecifiedMatching MONDO:0006374 placental choriocarcinoma skos:exactMatch MEDGEN:167782 semapv:UnspecifiedMatching MONDO:0006374 placental choriocarcinoma skos:exactMatch NCIT:C8893 Placental Choriocarcinoma semapv:UnspecifiedMatching MONDO:0006374 placental choriocarcinoma skos:exactMatch SCTID:448401007 semapv:UnspecifiedMatching MONDO:0006374 placental choriocarcinoma skos:exactMatch UMLS:C0855173 semapv:UnspecifiedMatching MONDO:0006375 placental hemangioma skos:exactMatch DOID:277 chorioangioma semapv:UnspecifiedMatching MONDO:0006375 placental hemangioma skos:exactMatch EFO:1000480 semapv:UnspecifiedMatching MONDO:0006375 placental hemangioma skos:exactMatch MEDGEN:195606 semapv:UnspecifiedMatching MONDO:0006375 placental hemangioma skos:exactMatch NCIT:C4868 Placental Hemangioma semapv:UnspecifiedMatching MONDO:0006375 placental hemangioma skos:exactMatch SCTID:237268002 semapv:UnspecifiedMatching MONDO:0006375 placental hemangioma skos:exactMatch UMLS:C0677608 semapv:UnspecifiedMatching MONDO:0006375 placental hemangioma skos:exactMatch icd11.foundation:588453442 Chorioangioma semapv:UnspecifiedMatching MONDO:0006377 pleural biphasic mesothelioma skos:exactMatch EFO:1000483 semapv:UnspecifiedMatching MONDO:0006377 pleural biphasic mesothelioma skos:exactMatch MEDGEN:311130 semapv:UnspecifiedMatching MONDO:0006377 pleural biphasic mesothelioma skos:exactMatch NCIT:C45665 Pleural Biphasic Mesothelioma semapv:UnspecifiedMatching MONDO:0006377 pleural biphasic mesothelioma skos:exactMatch UMLS:C1709570 semapv:UnspecifiedMatching MONDO:0006378 pleural epithelioid mesothelioma skos:exactMatch EFO:1000484 semapv:UnspecifiedMatching MONDO:0006378 pleural epithelioid mesothelioma skos:exactMatch MEDGEN:318031 semapv:UnspecifiedMatching MONDO:0006378 pleural epithelioid mesothelioma skos:exactMatch NCIT:C45662 Pleural Epithelioid Mesothelioma semapv:UnspecifiedMatching MONDO:0006378 pleural epithelioid mesothelioma skos:exactMatch UMLS:C1709574 semapv:UnspecifiedMatching MONDO:0006380 pleural sarcomatoid mesothelioma skos:exactMatch EFO:1000486 semapv:UnspecifiedMatching MONDO:0006380 pleural sarcomatoid mesothelioma skos:exactMatch MEDGEN:354059 semapv:UnspecifiedMatching MONDO:0006380 pleural sarcomatoid mesothelioma skos:exactMatch NCIT:C45663 Pleural Sarcomatoid Mesothelioma semapv:UnspecifiedMatching MONDO:0006380 pleural sarcomatoid mesothelioma skos:exactMatch UMLS:C1709578 semapv:UnspecifiedMatching MONDO:0006381 plexiform ameloblastoma skos:exactMatch EFO:1000487 semapv:UnspecifiedMatching MONDO:0006381 plexiform ameloblastoma skos:exactMatch MEDGEN:96838 semapv:UnspecifiedMatching MONDO:0006381 plexiform ameloblastoma skos:exactMatch NCIT:C39753 Plexiform Ameloblastoma semapv:UnspecifiedMatching MONDO:0006381 plexiform ameloblastoma skos:exactMatch UMLS:C0457529 semapv:UnspecifiedMatching MONDO:0006382 poorly differentiated thyroid gland carcinoma skos:exactMatch DOID:3972 poorly differentiated thyroid carcinoma semapv:UnspecifiedMatching MONDO:0006382 poorly differentiated thyroid gland carcinoma skos:exactMatch EFO:1000489 semapv:UnspecifiedMatching MONDO:0006382 poorly differentiated thyroid gland carcinoma skos:exactMatch MEDGEN:266094 semapv:UnspecifiedMatching MONDO:0006382 poorly differentiated thyroid gland carcinoma skos:exactMatch NCIT:C6040 Poorly Differentiated Thyroid Gland Carcinoma semapv:UnspecifiedMatching MONDO:0006382 poorly differentiated thyroid gland carcinoma skos:exactMatch UMLS:C1266050 semapv:UnspecifiedMatching MONDO:0006382 poorly differentiated thyroid gland carcinoma skos:exactMatch icd11.foundation:1227619262 Poorly differentiated carcinoma of thyroid gland semapv:UnspecifiedMatching MONDO:0006383 primary cutaneous diffuse large B-cell lymphoma, Leg type skos:exactMatch EFO:1000490 semapv:UnspecifiedMatching MONDO:0006383 primary cutaneous diffuse large B-cell lymphoma, Leg type skos:exactMatch MEDGEN:311155 semapv:UnspecifiedMatching MONDO:0006383 primary cutaneous diffuse large B-cell lymphoma, Leg type skos:exactMatch NCIT:C45194 Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type semapv:UnspecifiedMatching MONDO:0006383 primary cutaneous diffuse large B-cell lymphoma, Leg type skos:exactMatch Orphanet:178544 Primary cutaneous diffuse large B-cell lymphoma, leg type semapv:UnspecifiedMatching MONDO:0006383 primary cutaneous diffuse large B-cell lymphoma, Leg type skos:exactMatch UMLS:C1709656 semapv:UnspecifiedMatching MONDO:0006383 primary cutaneous diffuse large B-cell lymphoma, Leg type skos:exactMatch icd11.foundation:1418101362 Primary cutaneous diffuse large B-cell lymphoma, leg type semapv:UnspecifiedMatching MONDO:0006385 primary intraosseous squamous cell carcinoma skos:exactMatch EFO:1000492 semapv:UnspecifiedMatching MONDO:0006385 primary intraosseous squamous cell carcinoma skos:exactMatch MEDGEN:313618 semapv:UnspecifiedMatching MONDO:0006385 primary intraosseous squamous cell carcinoma skos:exactMatch NCIT:C54295 Primary Intraosseous Carcinoma, Not Otherwise Specified semapv:UnspecifiedMatching MONDO:0006385 primary intraosseous squamous cell carcinoma skos:exactMatch UMLS:C1709663 semapv:UnspecifiedMatching MONDO:0006386 primary peritoneal serous adenocarcinoma skos:exactMatch EFO:1000494 semapv:UnspecifiedMatching MONDO:0006386 primary peritoneal serous adenocarcinoma skos:exactMatch MEDGEN:269517 semapv:UnspecifiedMatching MONDO:0006386 primary peritoneal serous adenocarcinoma skos:exactMatch NCIT:C40023 Primary Peritoneal Serous Adenocarcinoma semapv:UnspecifiedMatching MONDO:0006386 primary peritoneal serous adenocarcinoma skos:exactMatch UMLS:C1514429 semapv:UnspecifiedMatching MONDO:0006387 primary pulmonary diffuse large B-cell lymphoma skos:exactMatch EFO:1000495 semapv:UnspecifiedMatching MONDO:0006387 primary pulmonary diffuse large B-cell lymphoma skos:exactMatch MEDGEN:1789549 semapv:UnspecifiedMatching MONDO:0006387 primary pulmonary diffuse large B-cell lymphoma skos:exactMatch NCIT:C45605 Lung Diffuse Large B-Cell Lymphoma semapv:UnspecifiedMatching MONDO:0006387 primary pulmonary diffuse large B-cell lymphoma skos:exactMatch UMLS:C2200138 semapv:UnspecifiedMatching MONDO:0006388 prolactin-producing pituitary gland carcinoma skos:exactMatch EFO:1000497 semapv:UnspecifiedMatching MONDO:0006388 prolactin-producing pituitary gland carcinoma skos:exactMatch MEDGEN:277338 semapv:UnspecifiedMatching MONDO:0006388 prolactin-producing pituitary gland carcinoma skos:exactMatch NCIT:C5962 Metastatic Lactotroph Pituitary Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO:0006388 prolactin-producing pituitary gland carcinoma skos:exactMatch UMLS:C1334614 semapv:UnspecifiedMatching MONDO:0006389 prostate rhabdomyosarcoma skos:exactMatch DOID:3252 prostate rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0006389 prostate rhabdomyosarcoma skos:exactMatch EFO:1000498 semapv:UnspecifiedMatching MONDO:0006389 prostate rhabdomyosarcoma skos:exactMatch MEDGEN:233356 semapv:UnspecifiedMatching MONDO:0006389 prostate rhabdomyosarcoma skos:exactMatch NCIT:C5522 Prostate Rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0006389 prostate rhabdomyosarcoma skos:exactMatch UMLS:C1335518 semapv:UnspecifiedMatching MONDO:0006390 prostate small cell carcinoma skos:exactMatch DOID:7141 prostate small cell carcinoma semapv:UnspecifiedMatching MONDO:0006390 prostate small cell carcinoma skos:exactMatch EFO:1000499 semapv:UnspecifiedMatching MONDO:0006390 prostate small cell carcinoma skos:exactMatch MEDGEN:266251 semapv:UnspecifiedMatching MONDO:0006390 prostate small cell carcinoma skos:exactMatch NCIT:C6766 Prostate Small Cell Neuroendocrine Carcinoma semapv:UnspecifiedMatching MONDO:0006390 prostate small cell carcinoma skos:exactMatch SCTID:396198006 semapv:UnspecifiedMatching MONDO:0006390 prostate small cell carcinoma skos:exactMatch UMLS:C1300585 semapv:UnspecifiedMatching MONDO:0006391 pyloric gland adenoma skos:exactMatch EFO:1000501 semapv:UnspecifiedMatching MONDO:0006391 pyloric gland adenoma skos:exactMatch MEDGEN:1771507 semapv:UnspecifiedMatching MONDO:0006391 pyloric gland adenoma skos:exactMatch NCIT:C43526 Gastric Pyloric Gland Adenoma semapv:UnspecifiedMatching MONDO:0006391 pyloric gland adenoma skos:exactMatch UMLS:C5421225 semapv:UnspecifiedMatching MONDO:0006392 rectal hyperplastic polyp skos:exactMatch EFO:1000502 semapv:UnspecifiedMatching MONDO:0006392 rectal hyperplastic polyp skos:exactMatch MEDGEN:277574 semapv:UnspecifiedMatching MONDO:0006392 rectal hyperplastic polyp skos:exactMatch NCIT:C5619 Rectal Hyperplastic Polyp semapv:UnspecifiedMatching MONDO:0006392 rectal hyperplastic polyp skos:exactMatch UMLS:C1335679 semapv:UnspecifiedMatching MONDO:0006393 rectal traditional serrated adenoma skos:exactMatch EFO:1000503 semapv:UnspecifiedMatching MONDO:0006393 rectal traditional serrated adenoma skos:exactMatch MEDGEN:474423 semapv:UnspecifiedMatching MONDO:0006393 rectal traditional serrated adenoma skos:exactMatch NCIT:C96463 Rectal Traditional Serrated Adenoma semapv:UnspecifiedMatching MONDO:0006393 rectal traditional serrated adenoma skos:exactMatch UMLS:C3272790 semapv:UnspecifiedMatching MONDO:0006394 rectal tubular adenoma skos:exactMatch EFO:1000504 semapv:UnspecifiedMatching MONDO:0006394 rectal tubular adenoma skos:exactMatch MEDGEN:474437 semapv:UnspecifiedMatching MONDO:0006394 rectal tubular adenoma skos:exactMatch NCIT:C96477 Rectal Tubular Adenoma semapv:UnspecifiedMatching MONDO:0006394 rectal tubular adenoma skos:exactMatch UMLS:C3272804 semapv:UnspecifiedMatching MONDO:0006395 rectal tubulovillous adenoma skos:exactMatch EFO:1000505 semapv:UnspecifiedMatching MONDO:0006395 rectal tubulovillous adenoma skos:exactMatch MEDGEN:277578 semapv:UnspecifiedMatching MONDO:0006395 rectal tubulovillous adenoma skos:exactMatch NCIT:C5620 Rectal Tubulovillous Adenoma semapv:UnspecifiedMatching MONDO:0006395 rectal tubulovillous adenoma skos:exactMatch SCTID:448428002 semapv:UnspecifiedMatching MONDO:0006395 rectal tubulovillous adenoma skos:exactMatch UMLS:C1335691 semapv:UnspecifiedMatching MONDO:0006396 rectal villous adenoma skos:exactMatch EFO:1000506 semapv:UnspecifiedMatching MONDO:0006396 rectal villous adenoma skos:exactMatch MEDGEN:152675 semapv:UnspecifiedMatching MONDO:0006396 rectal villous adenoma skos:exactMatch NCIT:C4919 Rectal Villous Adenoma semapv:UnspecifiedMatching MONDO:0006396 rectal villous adenoma skos:exactMatch SCTID:312823001 semapv:UnspecifiedMatching MONDO:0006396 rectal villous adenoma skos:exactMatch UMLS:C0730199 semapv:UnspecifiedMatching MONDO:0006397 renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions skos:exactMatch DOID:0081415 TFE3-rearranged renal cell carcinoma semapv:UnspecifiedMatching MONDO:0006397 renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions skos:exactMatch EFO:1000508 semapv:UnspecifiedMatching MONDO:0006397 renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions skos:exactMatch MEDGEN:235005 semapv:UnspecifiedMatching MONDO:0006397 renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions skos:exactMatch NCIT:C27891 TFE3-Rearranged Renal Cell Carcinoma semapv:UnspecifiedMatching MONDO:0006397 renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions skos:exactMatch UMLS:C1337036 semapv:UnspecifiedMatching MONDO:0006398 retroperitoneal inflammatory myofibroblastic tumor skos:exactMatch EFO:1000510 semapv:UnspecifiedMatching MONDO:0006398 retroperitoneal inflammatory myofibroblastic tumor skos:exactMatch MEDGEN:271681 semapv:UnspecifiedMatching MONDO:0006398 retroperitoneal inflammatory myofibroblastic tumor skos:exactMatch NCIT:C39741 Retroperitoneal Inflammatory Myofibroblastic Tumor semapv:UnspecifiedMatching MONDO:0006398 retroperitoneal inflammatory myofibroblastic tumor skos:exactMatch UMLS:C1514921 semapv:UnspecifiedMatching MONDO:0006400 salivary gland acinic cell carcinoma skos:exactMatch EFO:1000513 semapv:UnspecifiedMatching MONDO:0006400 salivary gland acinic cell carcinoma skos:exactMatch MEDGEN:79030 semapv:UnspecifiedMatching MONDO:0006400 salivary gland acinic cell carcinoma skos:exactMatch NCIT:C8013 Salivary Gland Acinic Cell Carcinoma semapv:UnspecifiedMatching MONDO:0006400 salivary gland acinic cell carcinoma skos:exactMatch UMLS:C0279738 semapv:UnspecifiedMatching MONDO:0006401 salivary gland adenosquamous carcinoma skos:exactMatch MEDGEN:277627 semapv:UnspecifiedMatching MONDO:0006401 salivary gland adenosquamous carcinoma skos:exactMatch NCIT:C35737 Salivary Gland Adenosquamous Carcinoma semapv:UnspecifiedMatching MONDO:0006401 salivary gland adenosquamous carcinoma skos:exactMatch UMLS:C1335894 semapv:UnspecifiedMatching MONDO:0006402 salivary gland basal cell adenocarcinoma skos:exactMatch EFO:1000515 semapv:UnspecifiedMatching MONDO:0006402 salivary gland basal cell adenocarcinoma skos:exactMatch MEDGEN:412203 semapv:UnspecifiedMatching MONDO:0006402 salivary gland basal cell adenocarcinoma skos:exactMatch NCIT:C3678 Salivary Gland Basal Cell Adenocarcinoma semapv:UnspecifiedMatching MONDO:0006402 salivary gland basal cell adenocarcinoma skos:exactMatch UMLS:C2243086 semapv:UnspecifiedMatching MONDO:0006403 salivary gland carcinoma ex pleomorphic adenoma skos:exactMatch DOID:297 pleomorphic adenoma carcinoma semapv:UnspecifiedMatching MONDO:0006403 salivary gland carcinoma ex pleomorphic adenoma skos:exactMatch EFO:1000516 semapv:UnspecifiedMatching MONDO:0006403 salivary gland carcinoma ex pleomorphic adenoma skos:exactMatch MEDGEN:274190 semapv:UnspecifiedMatching MONDO:0006403 salivary gland carcinoma ex pleomorphic adenoma skos:exactMatch NCIT:C40410 Salivary Gland Carcinoma ex Pleomorphic Adenoma semapv:UnspecifiedMatching MONDO:0006403 salivary gland carcinoma ex pleomorphic adenoma skos:exactMatch UMLS:C1519172 semapv:UnspecifiedMatching MONDO:0006404 salivary gland large cell carcinoma skos:exactMatch EFO:1000517 semapv:UnspecifiedMatching MONDO:0006404 salivary gland large cell carcinoma skos:exactMatch MEDGEN:810975 semapv:UnspecifiedMatching MONDO:0006404 salivary gland large cell carcinoma skos:exactMatch NCIT:C35735 Salivary Gland Large Cell Carcinoma semapv:UnspecifiedMatching MONDO:0006404 salivary gland large cell carcinoma skos:exactMatch UMLS:C2111671 semapv:UnspecifiedMatching MONDO:0006405 salivary gland small cell carcinoma skos:exactMatch EFO:1000519 semapv:UnspecifiedMatching MONDO:0006405 salivary gland small cell carcinoma skos:exactMatch MEDGEN:234786 semapv:UnspecifiedMatching MONDO:0006405 salivary gland small cell carcinoma skos:exactMatch NCIT:C35703 Salivary Gland Small Cell Neuroendocrine Carcinoma semapv:UnspecifiedMatching MONDO:0006405 salivary gland small cell carcinoma skos:exactMatch UMLS:C1335982 semapv:UnspecifiedMatching MONDO:0006406 sarcomatoid carcinoma skos:exactMatch DOID:4015 sarcomatoid carcinoma semapv:UnspecifiedMatching MONDO:0006406 sarcomatoid carcinoma skos:exactMatch EFO:1000520 semapv:UnspecifiedMatching MONDO:0006406 sarcomatoid carcinoma skos:exactMatch MEDGEN:60009 semapv:UnspecifiedMatching MONDO:0006406 sarcomatoid carcinoma skos:exactMatch NCIT:C27004 Sarcomatoid Carcinoma semapv:UnspecifiedMatching MONDO:0006406 sarcomatoid carcinoma skos:exactMatch UMLS:C0205697 semapv:UnspecifiedMatching MONDO:0006407 sarcomatoid mesothelioma skos:exactMatch DOID:4488 sarcomatoid mesothelioma semapv:UnspecifiedMatching MONDO:0006407 sarcomatoid mesothelioma skos:exactMatch EFO:1000521 semapv:UnspecifiedMatching MONDO:0006407 sarcomatoid mesothelioma skos:exactMatch MEDGEN:137774 semapv:UnspecifiedMatching MONDO:0006407 sarcomatoid mesothelioma skos:exactMatch NCIT:C45655 Sarcomatoid Mesothelioma semapv:UnspecifiedMatching MONDO:0006407 sarcomatoid mesothelioma skos:exactMatch UMLS:C0334513 semapv:UnspecifiedMatching MONDO:0006408 sex hormone-producing adrenal cortex adenoma skos:exactMatch EFO:1000523 semapv:UnspecifiedMatching MONDO:0006408 sex hormone-producing adrenal cortex adenoma skos:exactMatch MEDGEN:328025 semapv:UnspecifiedMatching MONDO:0006408 sex hormone-producing adrenal cortex adenoma skos:exactMatch NCIT:C48452 Sex Hormone-Producing Adrenal Cortical Adenoma semapv:UnspecifiedMatching MONDO:0006408 sex hormone-producing adrenal cortex adenoma skos:exactMatch UMLS:C1710067 semapv:UnspecifiedMatching MONDO:0006409 signet ring cell gastric adenocarcinoma skos:exactMatch DOID:8025 gastric signet ring cell adenocarcinoma semapv:UnspecifiedMatching MONDO:0006409 signet ring cell gastric adenocarcinoma skos:exactMatch EFO:1000524 semapv:UnspecifiedMatching MONDO:0006409 signet ring cell gastric adenocarcinoma skos:exactMatch MEDGEN:234782 semapv:UnspecifiedMatching MONDO:0006409 signet ring cell gastric adenocarcinoma skos:exactMatch NCIT:C5250 Gastric Signet Ring Cell Adenocarcinoma semapv:UnspecifiedMatching MONDO:0006409 signet ring cell gastric adenocarcinoma skos:exactMatch UMLS:C1335965 semapv:UnspecifiedMatching MONDO:0006410 simple endometrial hyperplasia skos:exactMatch EFO:1000525 semapv:UnspecifiedMatching MONDO:0006410 simple endometrial hyperplasia skos:exactMatch MEDGEN:96819 semapv:UnspecifiedMatching MONDO:0006410 simple endometrial hyperplasia skos:exactMatch NCIT:C35463 Simple Endometrial Hyperplasia semapv:UnspecifiedMatching MONDO:0006410 simple endometrial hyperplasia skos:exactMatch SCTID:198324001 semapv:UnspecifiedMatching MONDO:0006410 simple endometrial hyperplasia skos:exactMatch UMLS:C0456483 semapv:UnspecifiedMatching MONDO:0006411 sinonasal undifferentiated carcinoma skos:exactMatch DOID:0080799 sinonasal undifferentiated carcinoma semapv:UnspecifiedMatching MONDO:0006411 sinonasal undifferentiated carcinoma skos:exactMatch EFO:1000527 semapv:UnspecifiedMatching MONDO:0006411 sinonasal undifferentiated carcinoma skos:exactMatch MEDGEN:313704 semapv:UnspecifiedMatching MONDO:0006411 sinonasal undifferentiated carcinoma skos:exactMatch NCIT:C54294 Sinonasal Undifferentiated Carcinoma semapv:UnspecifiedMatching MONDO:0006411 sinonasal undifferentiated carcinoma skos:exactMatch SCTID:697993003 semapv:UnspecifiedMatching MONDO:0006411 sinonasal undifferentiated carcinoma skos:exactMatch UMLS:C1710096 semapv:UnspecifiedMatching MONDO:0006411 sinonasal undifferentiated carcinoma skos:exactMatch mesh:C537344 semapv:UnspecifiedMatching MONDO:0006412 sinus histiocytosis with massive lymphadenopathy skos:exactMatch MEDGEN:9266 semapv:UnspecifiedMatching MONDO:0006412 sinus histiocytosis with massive lymphadenopathy skos:exactMatch NCIT:C36075 Rosai-Dorfman-Destombes Disease semapv:UnspecifiedMatching MONDO:0006412 sinus histiocytosis with massive lymphadenopathy skos:exactMatch Orphanet:158014 Rosaï-Dorfman disease semapv:UnspecifiedMatching MONDO:0006412 sinus histiocytosis with massive lymphadenopathy skos:exactMatch SCTID:34287003 semapv:UnspecifiedMatching MONDO:0006412 sinus histiocytosis with massive lymphadenopathy skos:exactMatch UMLS:C0019625 semapv:UnspecifiedMatching MONDO:0006412 sinus histiocytosis with massive lymphadenopathy skos:exactMatch icd11.foundation:1908538383 Sinus histiocytosis with massive lymphadenopathy semapv:UnspecifiedMatching MONDO:0006412 sinus histiocytosis with massive lymphadenopathy skos:exactMatch mesh:D015618 semapv:UnspecifiedMatching MONDO:0006414 skin sarcoma skos:exactMatch DOID:2687 skin sarcoma semapv:UnspecifiedMatching MONDO:0006414 skin sarcoma skos:exactMatch EFO:1000531 semapv:UnspecifiedMatching MONDO:0006414 skin sarcoma skos:exactMatch MEDGEN:208989 semapv:UnspecifiedMatching MONDO:0006414 skin sarcoma skos:exactMatch NCIT:C5585 Skin Sarcoma semapv:UnspecifiedMatching MONDO:0006414 skin sarcoma skos:exactMatch UMLS:C0856900 semapv:UnspecifiedMatching MONDO:0006416 small intestinal Burkitt lymphoma skos:exactMatch MEDGEN:277650 semapv:UnspecifiedMatching MONDO:0006416 small intestinal Burkitt lymphoma skos:exactMatch NCIT:C27409 Small Intestinal Burkitt Lymphoma semapv:UnspecifiedMatching MONDO:0006416 small intestinal Burkitt lymphoma skos:exactMatch UMLS:C1335991 semapv:UnspecifiedMatching MONDO:0006417 small intestinal diffuse large B-cell lymphoma skos:exactMatch EFO:1000534 semapv:UnspecifiedMatching MONDO:0006417 small intestinal diffuse large B-cell lymphoma skos:exactMatch MEDGEN:474155 semapv:UnspecifiedMatching MONDO:0006417 small intestinal diffuse large B-cell lymphoma skos:exactMatch NCIT:C96055 Small Intestinal Diffuse Large B-Cell Lymphoma semapv:UnspecifiedMatching MONDO:0006417 small intestinal diffuse large B-cell lymphoma skos:exactMatch UMLS:C3272522 semapv:UnspecifiedMatching MONDO:0006417 small intestinal diffuse large B-cell lymphoma skos:exactMatch icd11.foundation:1578565768 Diffuse large B-cell lymphoma of small intestine semapv:UnspecifiedMatching MONDO:0006418 small intestinal enteropathy-associated T-cell lymphoma skos:exactMatch EFO:1000535 semapv:UnspecifiedMatching MONDO:0006418 small intestinal enteropathy-associated T-cell lymphoma skos:exactMatch MEDGEN:275445 semapv:UnspecifiedMatching MONDO:0006418 small intestinal enteropathy-associated T-cell lymphoma skos:exactMatch NCIT:C39610 Small Intestinal Enteropathy-Associated T-Cell Lymphoma semapv:UnspecifiedMatching MONDO:0006418 small intestinal enteropathy-associated T-cell lymphoma skos:exactMatch UMLS:C1519371 semapv:UnspecifiedMatching MONDO:0006419 small intestinal intraepithelial neoplasia skos:exactMatch MEDGEN:236822 semapv:UnspecifiedMatching MONDO:0006419 small intestinal intraepithelial neoplasia skos:exactMatch NCIT:C27462 Small Intestinal Intraepithelial Neoplasia semapv:UnspecifiedMatching MONDO:0006419 small intestinal intraepithelial neoplasia skos:exactMatch UMLS:C1335999 semapv:UnspecifiedMatching MONDO:0006420 small intestinal mucosa-associated lymphoid tissue lymphoma skos:exactMatch MEDGEN:233452 semapv:UnspecifiedMatching MONDO:0006420 small intestinal mucosa-associated lymphoid tissue lymphoma skos:exactMatch NCIT:C5635 Small Intestinal Mucosa-Associated Lymphoid Tissue Lymphoma semapv:UnspecifiedMatching MONDO:0006420 small intestinal mucosa-associated lymphoid tissue lymphoma skos:exactMatch UMLS:C1336004 semapv:UnspecifiedMatching MONDO:0006421 small intestinal tubular adenoma skos:exactMatch EFO:1000538 semapv:UnspecifiedMatching MONDO:0006421 small intestinal tubular adenoma skos:exactMatch MEDGEN:328036 semapv:UnspecifiedMatching MONDO:0006421 small intestinal tubular adenoma skos:exactMatch NCIT:C43552 Small Intestinal Tubular Adenoma semapv:UnspecifiedMatching MONDO:0006421 small intestinal tubular adenoma skos:exactMatch UMLS:C1710112 semapv:UnspecifiedMatching MONDO:0006422 small intestinal tubulovillous adenoma skos:exactMatch EFO:1000539 semapv:UnspecifiedMatching MONDO:0006422 small intestinal tubulovillous adenoma skos:exactMatch MEDGEN:354182 semapv:UnspecifiedMatching MONDO:0006422 small intestinal tubulovillous adenoma skos:exactMatch NCIT:C43553 Small Intestinal Tubulovillous Adenoma semapv:UnspecifiedMatching MONDO:0006422 small intestinal tubulovillous adenoma skos:exactMatch UMLS:C1710113 semapv:UnspecifiedMatching MONDO:0006423 soft tissue chondroma skos:exactMatch DOID:3814 soft tissue chondroma semapv:UnspecifiedMatching MONDO:0006423 soft tissue chondroma skos:exactMatch EFO:1000540 semapv:UnspecifiedMatching MONDO:0006423 soft tissue chondroma skos:exactMatch MEDGEN:266157 semapv:UnspecifiedMatching MONDO:0006423 soft tissue chondroma skos:exactMatch NCIT:C9482 Soft Tissue Chondroma semapv:UnspecifiedMatching MONDO:0006423 soft tissue chondroma skos:exactMatch SCTID:404078000 semapv:UnspecifiedMatching MONDO:0006423 soft tissue chondroma skos:exactMatch UMLS:C1275277 semapv:UnspecifiedMatching MONDO:0006424 soft tissue neoplasm skos:exactMatch EFO:1000541 semapv:UnspecifiedMatching MONDO:0006424 soft tissue neoplasm skos:exactMatch MEDGEN:11495 semapv:UnspecifiedMatching MONDO:0006424 soft tissue neoplasm skos:exactMatch NCIT:C3377 Soft Tissue Neoplasm semapv:UnspecifiedMatching MONDO:0006424 soft tissue neoplasm skos:exactMatch SCTID:387837005 semapv:UnspecifiedMatching MONDO:0006424 soft tissue neoplasm skos:exactMatch UMLS:C0037579 semapv:UnspecifiedMatching MONDO:0006426 spinal cord primitive neuroectodermal tumor skos:exactMatch DOID:6872 spinal cord primitive neuroectodermal neoplasm semapv:UnspecifiedMatching MONDO:0006426 spinal cord primitive neuroectodermal tumor skos:exactMatch EFO:1000545 semapv:UnspecifiedMatching MONDO:0006426 spinal cord primitive neuroectodermal tumor skos:exactMatch MEDGEN:234805 semapv:UnspecifiedMatching MONDO:0006426 spinal cord primitive neuroectodermal tumor skos:exactMatch NCIT:C5406 Spinal Cord Embryonal Tumor, Not Otherwise Specified semapv:UnspecifiedMatching MONDO:0006426 spinal cord primitive neuroectodermal tumor skos:exactMatch UMLS:C1336048 semapv:UnspecifiedMatching MONDO:0006427 spindle cell melanoma skos:exactMatch DOID:3162 malignant spindle cell melanoma semapv:UnspecifiedMatching MONDO:0006427 spindle cell melanoma skos:exactMatch EFO:1000546 semapv:UnspecifiedMatching MONDO:0006427 spindle cell melanoma skos:exactMatch MEDGEN:83147 semapv:UnspecifiedMatching MONDO:0006427 spindle cell melanoma skos:exactMatch NCIT:C4237 Spindle Cell Melanoma semapv:UnspecifiedMatching MONDO:0006427 spindle cell melanoma skos:exactMatch SCTID:403923002 semapv:UnspecifiedMatching MONDO:0006427 spindle cell melanoma skos:exactMatch UMLS:C0334444 semapv:UnspecifiedMatching MONDO:0006428 splenic diffuse large B-cell lymphoma skos:exactMatch EFO:1000547 semapv:UnspecifiedMatching MONDO:0006428 splenic diffuse large B-cell lymphoma skos:exactMatch MEDGEN:412154 semapv:UnspecifiedMatching MONDO:0006428 splenic diffuse large B-cell lymphoma skos:exactMatch NCIT:C7308 Splenic Diffuse Large B-Cell Lymphoma semapv:UnspecifiedMatching MONDO:0006428 splenic diffuse large B-cell lymphoma skos:exactMatch UMLS:C2018774 semapv:UnspecifiedMatching MONDO:0006429 splenic hodgkin lymphoma skos:exactMatch MEDGEN:56323 semapv:UnspecifiedMatching MONDO:0006429 splenic hodgkin lymphoma skos:exactMatch NCIT:C7295 Splenic Hodgkin Lymphoma semapv:UnspecifiedMatching MONDO:0006429 splenic hodgkin lymphoma skos:exactMatch SCTID:93527005 semapv:UnspecifiedMatching MONDO:0006429 splenic hodgkin lymphoma skos:exactMatch UMLS:C0153791 semapv:UnspecifiedMatching MONDO:0006430 splenic mantle cell lymphoma skos:exactMatch EFO:1000549 semapv:UnspecifiedMatching MONDO:0006430 splenic mantle cell lymphoma skos:exactMatch MEDGEN:384473 semapv:UnspecifiedMatching MONDO:0006430 splenic mantle cell lymphoma skos:exactMatch NCIT:C7306 Splenic Mantle Cell Lymphoma semapv:UnspecifiedMatching MONDO:0006430 splenic mantle cell lymphoma skos:exactMatch UMLS:C2018777 semapv:UnspecifiedMatching MONDO:0006432 stromal predominant kidney Wilms tumor skos:exactMatch DOID:5191 stromal predominant kidney Wilms' tumor semapv:UnspecifiedMatching MONDO:0006432 stromal predominant kidney Wilms tumor skos:exactMatch MEDGEN:83529 semapv:UnspecifiedMatching MONDO:0006432 stromal predominant kidney Wilms tumor skos:exactMatch NCIT:C9148 Stromal Predominant Kidney Wilms Tumor semapv:UnspecifiedMatching MONDO:0006432 stromal predominant kidney Wilms tumor skos:exactMatch UMLS:C0279610 semapv:UnspecifiedMatching MONDO:0006435 submandibular gland adenocarcinoma skos:exactMatch EFO:1000554 semapv:UnspecifiedMatching MONDO:0006435 submandibular gland adenocarcinoma skos:exactMatch MEDGEN:234370 semapv:UnspecifiedMatching MONDO:0006435 submandibular gland adenocarcinoma skos:exactMatch NCIT:C5940 Submandibular Gland Adenocarcinoma semapv:UnspecifiedMatching MONDO:0006435 submandibular gland adenocarcinoma skos:exactMatch UMLS:C1336521 semapv:UnspecifiedMatching MONDO:0006436 submandibular gland adenoid cystic carcinoma skos:exactMatch EFO:1000555 semapv:UnspecifiedMatching MONDO:0006436 submandibular gland adenoid cystic carcinoma skos:exactMatch MEDGEN:277773 semapv:UnspecifiedMatching MONDO:0006436 submandibular gland adenoid cystic carcinoma skos:exactMatch NCIT:C5935 Submandibular Gland Adenoid Cystic Carcinoma semapv:UnspecifiedMatching MONDO:0006436 submandibular gland adenoid cystic carcinoma skos:exactMatch SCTID:423189008 semapv:UnspecifiedMatching MONDO:0006436 submandibular gland adenoid cystic carcinoma skos:exactMatch UMLS:C1336522 semapv:UnspecifiedMatching MONDO:0006438 synovial chondromatosis skos:exactMatch EFO:1000557 semapv:UnspecifiedMatching MONDO:0006438 synovial chondromatosis skos:exactMatch MEDGEN:40275 semapv:UnspecifiedMatching MONDO:0006438 synovial chondromatosis skos:exactMatch NCIT:C34467 Synovial Chondromatosis semapv:UnspecifiedMatching MONDO:0006438 synovial chondromatosis skos:exactMatch UMLS:C0008476 semapv:UnspecifiedMatching MONDO:0006438 synovial chondromatosis skos:exactMatch mesh:D015838 semapv:UnspecifiedMatching MONDO:0006442 tendon sheath fibroma skos:exactMatch EFO:1000561 semapv:UnspecifiedMatching MONDO:0006442 tendon sheath fibroma skos:exactMatch MEDGEN:226901 semapv:UnspecifiedMatching MONDO:0006442 tendon sheath fibroma skos:exactMatch NCIT:C6485 Tendon Sheath Fibroma semapv:UnspecifiedMatching MONDO:0006442 tendon sheath fibroma skos:exactMatch SCTID:403992002 semapv:UnspecifiedMatching MONDO:0006442 tendon sheath fibroma skos:exactMatch UMLS:C1275236 semapv:UnspecifiedMatching MONDO:0006444 teratoma with malignant transformation skos:exactMatch DOID:0081246 teratoma with somatic-type malignancy semapv:UnspecifiedMatching MONDO:0006444 teratoma with malignant transformation skos:exactMatch EFO:1000563 semapv:UnspecifiedMatching MONDO:0006444 teratoma with malignant transformation skos:exactMatch MEDGEN:87256 semapv:UnspecifiedMatching MONDO:0006444 teratoma with malignant transformation skos:exactMatch NCIT:C4289 Teratoma with Somatic-Type Malignancy semapv:UnspecifiedMatching MONDO:0006444 teratoma with malignant transformation skos:exactMatch UMLS:C0334523 semapv:UnspecifiedMatching MONDO:0006446 testicular embryonal carcinoma skos:exactMatch DOID:5680 embryonal testis carcinoma semapv:UnspecifiedMatching MONDO:0006446 testicular embryonal carcinoma skos:exactMatch EFO:1000565 semapv:UnspecifiedMatching MONDO:0006446 testicular embryonal carcinoma skos:exactMatch MEDGEN:66771 semapv:UnspecifiedMatching MONDO:0006446 testicular embryonal carcinoma skos:exactMatch NCIT:C6341 Testicular Embryonal Carcinoma semapv:UnspecifiedMatching MONDO:0006446 testicular embryonal carcinoma skos:exactMatch UMLS:C0238448 semapv:UnspecifiedMatching MONDO:0006447 testicular non-seminomatous germ cell tumor skos:exactMatch DOID:4086 obsolete testicular germ cell tumor non-seminomatous semapv:UnspecifiedMatching MONDO:0006447 testicular non-seminomatous germ cell tumor skos:exactMatch EFO:1000570 semapv:UnspecifiedMatching MONDO:0006447 testicular non-seminomatous germ cell tumor skos:exactMatch MEDGEN:890627 semapv:UnspecifiedMatching MONDO:0006447 testicular non-seminomatous germ cell tumor skos:exactMatch NCIT:C9313 Testicular Non-Seminomatous Germ Cell Tumor semapv:UnspecifiedMatching MONDO:0006447 testicular non-seminomatous germ cell tumor skos:exactMatch Orphanet:363494 Non-seminomatous germ cell tumor of testis semapv:UnspecifiedMatching MONDO:0006447 testicular non-seminomatous germ cell tumor skos:exactMatch UMLS:C2057625 semapv:UnspecifiedMatching MONDO:0006450 therapy-related myeloid neoplasm skos:exactMatch EFO:1000575 semapv:UnspecifiedMatching MONDO:0006450 therapy-related myeloid neoplasm skos:exactMatch NCIT:C27912 Myeloid Neoplasm Post Cytotoxic Therapy semapv:UnspecifiedMatching MONDO:0006451 thymic carcinoma skos:exactMatch DOID:3284 thymic carcinoma semapv:UnspecifiedMatching MONDO:0006451 thymic carcinoma skos:exactMatch DOID:4554 type C thymoma semapv:UnspecifiedMatching MONDO:0006451 thymic carcinoma skos:exactMatch EFO:1000576 semapv:UnspecifiedMatching MONDO:0006451 thymic carcinoma skos:exactMatch MEDGEN:60049 semapv:UnspecifiedMatching MONDO:0006451 thymic carcinoma skos:exactMatch NCIT:C7569 Thymus Carcinoma semapv:UnspecifiedMatching MONDO:0006451 thymic carcinoma skos:exactMatch NCIT:C7612 Malignant Thymoma semapv:UnspecifiedMatching MONDO:0006451 thymic carcinoma skos:exactMatch Orphanet:99868 Thymic carcinoma semapv:UnspecifiedMatching MONDO:0006451 thymic carcinoma skos:exactMatch SCTID:444374006 semapv:UnspecifiedMatching MONDO:0006451 thymic carcinoma skos:exactMatch UMLS:C0205969 semapv:UnspecifiedMatching MONDO:0006451 thymic carcinoma skos:exactMatch icd11.foundation:1351671383 Carcinoma of thymus semapv:UnspecifiedMatching MONDO:0006452 thymic sarcomatoid carcinoma skos:exactMatch DOID:8138 thymus sarcomatoid carcinoma semapv:UnspecifiedMatching MONDO:0006452 thymic sarcomatoid carcinoma skos:exactMatch EFO:1000577 semapv:UnspecifiedMatching MONDO:0006452 thymic sarcomatoid carcinoma skos:exactMatch MEDGEN:234772 semapv:UnspecifiedMatching MONDO:0006452 thymic sarcomatoid carcinoma skos:exactMatch NCIT:C6463 Thymus Sarcomatoid Carcinoma semapv:UnspecifiedMatching MONDO:0006452 thymic sarcomatoid carcinoma skos:exactMatch UMLS:C1335924 semapv:UnspecifiedMatching MONDO:0006455 thymic undifferentiated carcinoma skos:exactMatch EFO:1000580 semapv:UnspecifiedMatching MONDO:0006455 thymic undifferentiated carcinoma skos:exactMatch MEDGEN:1864846 semapv:UnspecifiedMatching MONDO:0006455 thymic undifferentiated carcinoma skos:exactMatch NCIT:C35718 Thymus Undifferentiated Carcinoma semapv:UnspecifiedMatching MONDO:0006455 thymic undifferentiated carcinoma skos:exactMatch UMLS:C2188088 semapv:UnspecifiedMatching MONDO:0006456 thymoma skos:exactMatch DOID:3275 thymoma semapv:UnspecifiedMatching MONDO:0006456 thymoma skos:exactMatch EFO:1000581 semapv:UnspecifiedMatching MONDO:0006456 thymoma skos:exactMatch MEDGEN:52743 semapv:UnspecifiedMatching MONDO:0006456 thymoma skos:exactMatch NCIT:C3411 Thymoma semapv:UnspecifiedMatching MONDO:0006456 thymoma skos:exactMatch Orphanet:99867 Thymoma semapv:UnspecifiedMatching MONDO:0006456 thymoma skos:exactMatch SCTID:444231005 semapv:UnspecifiedMatching MONDO:0006456 thymoma skos:exactMatch UMLS:C0040100 semapv:UnspecifiedMatching MONDO:0006456 thymoma skos:exactMatch icd11.foundation:33869057 Thymoma semapv:UnspecifiedMatching MONDO:0006456 thymoma skos:exactMatch mesh:D013945 semapv:UnspecifiedMatching MONDO:0006458 thymoma type B3 skos:exactMatch DOID:7926 epithelial malignant thymoma semapv:UnspecifiedMatching MONDO:0006458 thymoma type B3 skos:exactMatch EFO:1000583 semapv:UnspecifiedMatching MONDO:0006458 thymoma type B3 skos:exactMatch MEDGEN:124648 semapv:UnspecifiedMatching MONDO:0006458 thymoma type B3 skos:exactMatch NCIT:C7997 Thymoma Type B3 semapv:UnspecifiedMatching MONDO:0006458 thymoma type B3 skos:exactMatch UMLS:C0279705 semapv:UnspecifiedMatching MONDO:0006459 thymoma type B1 skos:exactMatch DOID:6917 predominantly cortical thymoma semapv:UnspecifiedMatching MONDO:0006459 thymoma type B1 skos:exactMatch EFO:1000584 semapv:UnspecifiedMatching MONDO:0006459 thymoma type B1 skos:exactMatch MEDGEN:224761 semapv:UnspecifiedMatching MONDO:0006459 thymoma type B1 skos:exactMatch NCIT:C6887 Thymoma Type B1 semapv:UnspecifiedMatching MONDO:0006459 thymoma type B1 skos:exactMatch UMLS:C1266094 semapv:UnspecifiedMatching MONDO:0006460 thyroglossal duct cyst skos:exactMatch EFO:1000585 semapv:UnspecifiedMatching MONDO:0006460 thyroglossal duct cyst skos:exactMatch MEDGEN:11810 semapv:UnspecifiedMatching MONDO:0006460 thyroglossal duct cyst skos:exactMatch SCTID:39462005 semapv:UnspecifiedMatching MONDO:0006460 thyroglossal duct cyst skos:exactMatch UMLS:C0040124 semapv:UnspecifiedMatching MONDO:0006460 thyroglossal duct cyst skos:exactMatch icd11.foundation:699074418 Thyroglossal cyst semapv:UnspecifiedMatching MONDO:0006460 thyroglossal duct cyst skos:exactMatch mesh:D013955 semapv:UnspecifiedMatching MONDO:0006462 thyroid gland diffuse large B-cell lymphoma skos:exactMatch EFO:1000587 semapv:UnspecifiedMatching MONDO:0006462 thyroid gland diffuse large B-cell lymphoma skos:exactMatch MEDGEN:234429 semapv:UnspecifiedMatching MONDO:0006462 thyroid gland diffuse large B-cell lymphoma skos:exactMatch NCIT:C6046 Thyroid Gland Diffuse Large B-Cell Lymphoma semapv:UnspecifiedMatching MONDO:0006462 thyroid gland diffuse large B-cell lymphoma skos:exactMatch UMLS:C1336749 semapv:UnspecifiedMatching MONDO:0006463 thyroid gland mucoepidermoid carcinoma skos:exactMatch DOID:4687 thyroid gland mucoepidermoid carcinoma semapv:UnspecifiedMatching MONDO:0006463 thyroid gland mucoepidermoid carcinoma skos:exactMatch EFO:1000590 semapv:UnspecifiedMatching MONDO:0006463 thyroid gland mucoepidermoid carcinoma skos:exactMatch MEDGEN:270845 semapv:UnspecifiedMatching MONDO:0006463 thyroid gland mucoepidermoid carcinoma skos:exactMatch NCIT:C38762 Thyroid Gland Mucoepidermoid Carcinoma semapv:UnspecifiedMatching MONDO:0006463 thyroid gland mucoepidermoid carcinoma skos:exactMatch UMLS:C1513721 semapv:UnspecifiedMatching MONDO:0006464 thyroid gland mucosa-associated lymphoid tissue lymphoma skos:exactMatch EFO:1000591 semapv:UnspecifiedMatching MONDO:0006464 thyroid gland mucosa-associated lymphoid tissue lymphoma skos:exactMatch MEDGEN:234948 semapv:UnspecifiedMatching MONDO:0006464 thyroid gland mucosa-associated lymphoid tissue lymphoma skos:exactMatch NCIT:C7601 Thyroid Gland Mucosa-Associated Lymphoid Tissue Lymphoma semapv:UnspecifiedMatching MONDO:0006464 thyroid gland mucosa-associated lymphoid tissue lymphoma skos:exactMatch UMLS:C1336754 semapv:UnspecifiedMatching MONDO:0006465 obsolete thyroid gland oncocytic follicular carcinoma skos:exactMatch EFO:1000592 semapv:UnspecifiedMatching MONDO:0006466 thyroid gland spindle cell tumor with thymus-like differentiation skos:exactMatch DOID:0050923 spindle epithelial tumor with thymus-like differentiation tumor semapv:UnspecifiedMatching MONDO:0006466 thyroid gland spindle cell tumor with thymus-like differentiation skos:exactMatch DOID:0081461 thyroid gland spindle epithelial tumor with thymus-like elements semapv:UnspecifiedMatching MONDO:0006466 thyroid gland spindle cell tumor with thymus-like differentiation skos:exactMatch EFO:1000593 semapv:UnspecifiedMatching MONDO:0006466 thyroid gland spindle cell tumor with thymus-like differentiation skos:exactMatch MEDGEN:220415 semapv:UnspecifiedMatching MONDO:0006466 thyroid gland spindle cell tumor with thymus-like differentiation skos:exactMatch NCIT:C46105 Thyroid Gland Spindle Epithelial Tumor with Thymus-Like Elements semapv:UnspecifiedMatching MONDO:0006466 thyroid gland spindle cell tumor with thymus-like differentiation skos:exactMatch UMLS:C1266099 semapv:UnspecifiedMatching MONDO:0006467 thyroid gland squamous cell carcinoma skos:exactMatch EFO:1000594 semapv:UnspecifiedMatching MONDO:0006467 thyroid gland squamous cell carcinoma skos:exactMatch MEDGEN:328050 semapv:UnspecifiedMatching MONDO:0006467 thyroid gland squamous cell carcinoma skos:exactMatch NCIT:C46008 Thyroid Gland Anaplastic Carcinoma, Squamous Cell Carcinoma Pattern semapv:UnspecifiedMatching MONDO:0006467 thyroid gland squamous cell carcinoma skos:exactMatch UMLS:C1710177 semapv:UnspecifiedMatching MONDO:0006468 thyroid gland undifferentiated (anaplastic) carcinoma skos:exactMatch DOID:0080522 anaplastic thyroid carcinoma semapv:UnspecifiedMatching MONDO:0006468 thyroid gland undifferentiated (anaplastic) carcinoma skos:exactMatch EFO:1000595 semapv:UnspecifiedMatching MONDO:0006468 thyroid gland undifferentiated (anaplastic) carcinoma skos:exactMatch MEDGEN:116064 semapv:UnspecifiedMatching MONDO:0006468 thyroid gland undifferentiated (anaplastic) carcinoma skos:exactMatch NCIT:C3878 Thyroid Gland Anaplastic Carcinoma semapv:UnspecifiedMatching MONDO:0006468 thyroid gland undifferentiated (anaplastic) carcinoma skos:exactMatch Orphanet:142 Anaplastic thyroid carcinoma semapv:UnspecifiedMatching MONDO:0006468 thyroid gland undifferentiated (anaplastic) carcinoma skos:exactMatch SCTID:255031003 semapv:UnspecifiedMatching MONDO:0006468 thyroid gland undifferentiated (anaplastic) carcinoma skos:exactMatch UMLS:C0238461 semapv:UnspecifiedMatching MONDO:0006468 thyroid gland undifferentiated (anaplastic) carcinoma skos:exactMatch icd11.foundation:320540024 Undifferentiated carcinoma of thyroid gland semapv:UnspecifiedMatching MONDO:0006468 thyroid gland undifferentiated (anaplastic) carcinoma skos:exactMatch mesh:D065646 semapv:UnspecifiedMatching MONDO:0006469 tibial adamantinoma skos:exactMatch DOID:6322 tibial adamantinoma semapv:UnspecifiedMatching MONDO:0006469 tibial adamantinoma skos:exactMatch MEDGEN:220874 semapv:UnspecifiedMatching MONDO:0006469 tibial adamantinoma skos:exactMatch NCIT:C8461 Tibial Adamantinoma semapv:UnspecifiedMatching MONDO:0006469 tibial adamantinoma skos:exactMatch SCTID:281702006 semapv:UnspecifiedMatching MONDO:0006469 tibial adamantinoma skos:exactMatch UMLS:C1273017 semapv:UnspecifiedMatching MONDO:0006470 tonsillar squamous cell carcinoma skos:exactMatch DOID:0050920 tonsil squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0006470 tonsillar squamous cell carcinoma skos:exactMatch EFO:1000597 semapv:UnspecifiedMatching MONDO:0006470 tonsillar squamous cell carcinoma skos:exactMatch MEDGEN:79101 semapv:UnspecifiedMatching MONDO:0006470 tonsillar squamous cell carcinoma skos:exactMatch NCIT:C8183 Tonsillar Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0006470 tonsillar squamous cell carcinoma skos:exactMatch UMLS:C0280317 semapv:UnspecifiedMatching MONDO:0006470 tonsillar squamous cell carcinoma skos:exactMatch icd11.foundation:342470657 Squamous cell carcinoma of tonsil semapv:UnspecifiedMatching MONDO:0006471 tracheal adenoid cystic carcinoma skos:exactMatch DOID:4875 trachea adenoid cystic carcinoma semapv:UnspecifiedMatching MONDO:0006471 tracheal adenoid cystic carcinoma skos:exactMatch EFO:1000598 semapv:UnspecifiedMatching MONDO:0006471 tracheal adenoid cystic carcinoma skos:exactMatch MEDGEN:91058 semapv:UnspecifiedMatching MONDO:0006471 tracheal adenoid cystic carcinoma skos:exactMatch NCIT:C6051 Tracheal Adenoid Cystic Carcinoma semapv:UnspecifiedMatching MONDO:0006471 tracheal adenoid cystic carcinoma skos:exactMatch SCTID:254619006 semapv:UnspecifiedMatching MONDO:0006471 tracheal adenoid cystic carcinoma skos:exactMatch UMLS:C0345945 semapv:UnspecifiedMatching MONDO:0006474 transitional cell carcinoma skos:exactMatch DOID:2671 transitional cell carcinoma semapv:UnspecifiedMatching MONDO:0006474 transitional cell carcinoma skos:exactMatch EFO:1000601 semapv:UnspecifiedMatching MONDO:0006474 transitional cell carcinoma skos:exactMatch MEDGEN:2875 semapv:UnspecifiedMatching MONDO:0006474 transitional cell carcinoma skos:exactMatch NCIT:C2930 Transitional Cell Carcinoma semapv:UnspecifiedMatching MONDO:0006474 transitional cell carcinoma skos:exactMatch UMLS:C0007138 semapv:UnspecifiedMatching MONDO:0006474 transitional cell carcinoma skos:exactMatch mesh:D002295 semapv:UnspecifiedMatching MONDO:0006475 obsolete unclassified renal cell carcinoma skos:exactMatch NCIT:C27892 Unclassified Renal Cell Carcinoma semapv:UnspecifiedMatching MONDO:0006476 undifferentiated gallbladder carcinoma skos:exactMatch EFO:1000604 semapv:UnspecifiedMatching MONDO:0006476 undifferentiated gallbladder carcinoma skos:exactMatch MEDGEN:76010 semapv:UnspecifiedMatching MONDO:0006476 undifferentiated gallbladder carcinoma skos:exactMatch NCIT:C9167 Gallbladder Undifferentiated Carcinoma semapv:UnspecifiedMatching MONDO:0006476 undifferentiated gallbladder carcinoma skos:exactMatch UMLS:C0279653 semapv:UnspecifiedMatching MONDO:0006477 undifferentiated ovarian carcinoma skos:exactMatch EFO:1000605 semapv:UnspecifiedMatching MONDO:0006477 undifferentiated ovarian carcinoma skos:exactMatch MEDGEN:83410 semapv:UnspecifiedMatching MONDO:0006477 undifferentiated ovarian carcinoma skos:exactMatch NCIT:C4509 Ovarian Undifferentiated Carcinoma semapv:UnspecifiedMatching MONDO:0006477 undifferentiated ovarian carcinoma skos:exactMatch SCTID:254856004 semapv:UnspecifiedMatching MONDO:0006477 undifferentiated ovarian carcinoma skos:exactMatch UMLS:C0346167 semapv:UnspecifiedMatching MONDO:0006478 undifferentiated pancreatic carcinoma skos:exactMatch EFO:1000606 semapv:UnspecifiedMatching MONDO:0006478 undifferentiated pancreatic carcinoma skos:exactMatch MEDGEN:237030 semapv:UnspecifiedMatching MONDO:0006478 undifferentiated pancreatic carcinoma skos:exactMatch NCIT:C5722 Pancreatic Undifferentiated Carcinoma semapv:UnspecifiedMatching MONDO:0006478 undifferentiated pancreatic carcinoma skos:exactMatch UMLS:C1336861 semapv:UnspecifiedMatching MONDO:0006479 undifferentiated pancreatic carcinoma with osteoclast-like giant cells skos:exactMatch DOID:7718 osteoclast-like giant cell neoplasm of the pancreas semapv:UnspecifiedMatching MONDO:0006479 undifferentiated pancreatic carcinoma with osteoclast-like giant cells skos:exactMatch EFO:1000607 semapv:UnspecifiedMatching MONDO:0006479 undifferentiated pancreatic carcinoma with osteoclast-like giant cells skos:exactMatch MEDGEN:389157 semapv:UnspecifiedMatching MONDO:0006479 undifferentiated pancreatic carcinoma with osteoclast-like giant cells skos:exactMatch NCIT:C5723 Pancreatic Undifferentiated Carcinoma with Osteoclast-Like Giant Cells semapv:UnspecifiedMatching MONDO:0006479 undifferentiated pancreatic carcinoma with osteoclast-like giant cells skos:exactMatch Orphanet:424080 Undifferentiated carcinoma with osteoclast-like giant cells of pancreas semapv:UnspecifiedMatching MONDO:0006479 undifferentiated pancreatic carcinoma with osteoclast-like giant cells skos:exactMatch UMLS:C2007059 semapv:UnspecifiedMatching MONDO:0006480 undifferentiated pleomorphic sarcoma, inflammatory variant skos:exactMatch DOID:6192 malignant inflammatory fibrous histiocytoma semapv:UnspecifiedMatching MONDO:0006480 undifferentiated pleomorphic sarcoma, inflammatory variant skos:exactMatch EFO:1000608 semapv:UnspecifiedMatching MONDO:0006480 undifferentiated pleomorphic sarcoma, inflammatory variant skos:exactMatch MEDGEN:235211 semapv:UnspecifiedMatching MONDO:0006480 undifferentiated pleomorphic sarcoma, inflammatory variant skos:exactMatch NCIT:C6497 Undifferentiated Pleomorphic Sarcoma, Inflammatory Variant semapv:UnspecifiedMatching MONDO:0006480 undifferentiated pleomorphic sarcoma, inflammatory variant skos:exactMatch UMLS:C1334180 semapv:UnspecifiedMatching MONDO:0006481 ureter carcinoma skos:exactMatch DOID:4939 ureter carcinoma semapv:UnspecifiedMatching MONDO:0006481 ureter carcinoma skos:exactMatch EFO:1000609 semapv:UnspecifiedMatching MONDO:0006481 ureter carcinoma skos:exactMatch MEDGEN:109002 semapv:UnspecifiedMatching MONDO:0006481 ureter carcinoma skos:exactMatch NCIT:C8993 Ureter Carcinoma semapv:UnspecifiedMatching MONDO:0006481 ureter carcinoma skos:exactMatch SCTID:448864006 semapv:UnspecifiedMatching MONDO:0006481 ureter carcinoma skos:exactMatch UMLS:C0600079 semapv:UnspecifiedMatching MONDO:0006482 ureter small cell carcinoma skos:exactMatch DOID:6886 ureter small cell carcinoma semapv:UnspecifiedMatching MONDO:0006482 ureter small cell carcinoma skos:exactMatch MEDGEN:234971 semapv:UnspecifiedMatching MONDO:0006482 ureter small cell carcinoma skos:exactMatch NCIT:C6176 Ureter Small Cell Neuroendocrine Carcinoma semapv:UnspecifiedMatching MONDO:0006482 ureter small cell carcinoma skos:exactMatch UMLS:C1336878 semapv:UnspecifiedMatching MONDO:0006483 urothelial dysplasia skos:exactMatch EFO:1000611 semapv:UnspecifiedMatching MONDO:0006483 urothelial dysplasia skos:exactMatch MEDGEN:266165 semapv:UnspecifiedMatching MONDO:0006483 urothelial dysplasia skos:exactMatch NCIT:C39856 Urothelial Dysplasia semapv:UnspecifiedMatching MONDO:0006483 urothelial dysplasia skos:exactMatch UMLS:C1275859 semapv:UnspecifiedMatching MONDO:0006484 usual ductal breast hyperplasia skos:exactMatch EFO:1000612 semapv:UnspecifiedMatching MONDO:0006484 usual ductal breast hyperplasia skos:exactMatch MEDGEN:759542 semapv:UnspecifiedMatching MONDO:0006484 usual ductal breast hyperplasia skos:exactMatch NCIT:C27941 Breast Usual Ductal Hyperplasia semapv:UnspecifiedMatching MONDO:0006484 usual ductal breast hyperplasia skos:exactMatch SCTID:472905007 semapv:UnspecifiedMatching MONDO:0006484 usual ductal breast hyperplasia skos:exactMatch UMLS:C3532429 semapv:UnspecifiedMatching MONDO:0006485 uterine carcinosarcoma skos:exactMatch DOID:6171 uterine carcinosarcoma semapv:UnspecifiedMatching MONDO:0006485 uterine carcinosarcoma skos:exactMatch EFO:1000613 semapv:UnspecifiedMatching MONDO:0006485 uterine carcinosarcoma skos:exactMatch MEDGEN:83678 semapv:UnspecifiedMatching MONDO:0006485 uterine carcinosarcoma skos:exactMatch NCIT:C42700 Uterine Carcinosarcoma semapv:UnspecifiedMatching MONDO:0006485 uterine carcinosarcoma skos:exactMatch SCTID:702369008 semapv:UnspecifiedMatching MONDO:0006485 uterine carcinosarcoma skos:exactMatch UMLS:C0280630 semapv:UnspecifiedMatching MONDO:0006485 uterine carcinosarcoma skos:exactMatch mesh:D012192 semapv:UnspecifiedMatching MONDO:0006486 uveal melanoma skos:exactMatch DOID:6039 uveal melanoma semapv:UnspecifiedMatching MONDO:0006486 uveal melanoma skos:exactMatch EFO:1000616 semapv:UnspecifiedMatching MONDO:0006486 uveal melanoma skos:exactMatch MEDGEN:65077 semapv:UnspecifiedMatching MONDO:0006486 uveal melanoma skos:exactMatch NCIT:C7712 Uveal Melanoma semapv:UnspecifiedMatching MONDO:0006486 uveal melanoma skos:exactMatch OMIM:155720 melanoma, uveal semapv:UnspecifiedMatching MONDO:0006486 uveal melanoma skos:exactMatch Orphanet:39044 Uveal melanoma semapv:UnspecifiedMatching MONDO:0006486 uveal melanoma skos:exactMatch UMLS:C0220633 semapv:UnspecifiedMatching MONDO:0006486 uveal melanoma skos:exactMatch mesh:C536494 semapv:UnspecifiedMatching MONDO:0006487 vaginal adenoid cystic carcinoma skos:exactMatch MEDGEN:274376 semapv:UnspecifiedMatching MONDO:0006487 vaginal adenoid cystic carcinoma skos:exactMatch NCIT:C40261 Vaginal Adenoid Cystic Carcinoma semapv:UnspecifiedMatching MONDO:0006487 vaginal adenoid cystic carcinoma skos:exactMatch UMLS:C1519912 semapv:UnspecifiedMatching MONDO:0006488 vaginal carcinosarcoma skos:exactMatch DOID:136 vaginal carcinosarcoma semapv:UnspecifiedMatching MONDO:0006488 vaginal carcinosarcoma skos:exactMatch MEDGEN:275573 semapv:UnspecifiedMatching MONDO:0006488 vaginal carcinosarcoma skos:exactMatch NCIT:C40278 Vaginal Carcinosarcoma semapv:UnspecifiedMatching MONDO:0006488 vaginal carcinosarcoma skos:exactMatch UMLS:C1519918 semapv:UnspecifiedMatching MONDO:0006489 vaginal melanoma skos:exactMatch EFO:1000619 semapv:UnspecifiedMatching MONDO:0006489 vaginal melanoma skos:exactMatch MEDGEN:378335 semapv:UnspecifiedMatching MONDO:0006489 vaginal melanoma skos:exactMatch NCIT:C27394 Vaginal Melanoma semapv:UnspecifiedMatching MONDO:0006489 vaginal melanoma skos:exactMatch UMLS:C2004576 semapv:UnspecifiedMatching MONDO:0006490 vaginal squamous cell carcinoma skos:exactMatch EFO:1000620 semapv:UnspecifiedMatching MONDO:0006490 vaginal squamous cell carcinoma skos:exactMatch MEDGEN:66775 semapv:UnspecifiedMatching MONDO:0006490 vaginal squamous cell carcinoma skos:exactMatch NCIT:C180915 Vaginal Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0006490 vaginal squamous cell carcinoma skos:exactMatch NCIT:C7736 Vaginal Squamous Cell Carcinoma, Not Otherwise Specified semapv:UnspecifiedMatching MONDO:0006490 vaginal squamous cell carcinoma skos:exactMatch SCTID:105121000119102 semapv:UnspecifiedMatching MONDO:0006490 vaginal squamous cell carcinoma skos:exactMatch UMLS:C0238518 semapv:UnspecifiedMatching MONDO:0006491 vulvar lichen sclerosus skos:exactMatch EFO:1000623 semapv:UnspecifiedMatching MONDO:0006491 vulvar lichen sclerosus skos:exactMatch MEDGEN:7228 semapv:UnspecifiedMatching MONDO:0006491 vulvar lichen sclerosus skos:exactMatch NCIT:C27723 Vulvar Lichen Sclerosus semapv:UnspecifiedMatching MONDO:0006491 vulvar lichen sclerosus skos:exactMatch UMLS:C0022783 semapv:UnspecifiedMatching MONDO:0006491 vulvar lichen sclerosus skos:exactMatch mesh:D007724 semapv:UnspecifiedMatching MONDO:0006493 Warthin tumor skos:exactMatch EFO:1000625 semapv:UnspecifiedMatching MONDO:0006493 Warthin tumor skos:exactMatch MEDGEN:124 semapv:UnspecifiedMatching MONDO:0006493 Warthin tumor skos:exactMatch NCIT:C2854 Warthin Tumor semapv:UnspecifiedMatching MONDO:0006493 Warthin tumor skos:exactMatch SCTID:422470007 semapv:UnspecifiedMatching MONDO:0006493 Warthin tumor skos:exactMatch UMLS:C0001429 semapv:UnspecifiedMatching MONDO:0006493 Warthin tumor skos:exactMatch mesh:D000235 semapv:UnspecifiedMatching MONDO:0006496 palsy skos:exactMatch EFO:1000631 semapv:UnspecifiedMatching MONDO:0006496 palsy skos:exactMatch ICD10CM:G80-G83 Cerebral palsy and other paralytic syndromes (G80-G83) semapv:UnspecifiedMatching MONDO:0006496 palsy skos:exactMatch MEDGEN:854494 semapv:UnspecifiedMatching MONDO:0006496 palsy skos:exactMatch UMLS:C3887651 semapv:UnspecifiedMatching MONDO:0006496 palsy skos:exactMatch mesh:D010243 semapv:UnspecifiedMatching MONDO:0006497 cerebral palsy skos:exactMatch DOID:1969 cerebral palsy semapv:UnspecifiedMatching MONDO:0006497 cerebral palsy skos:exactMatch EFO:1000632 semapv:UnspecifiedMatching MONDO:0006497 cerebral palsy skos:exactMatch ICD10CM:G80 Cerebral palsy semapv:UnspecifiedMatching MONDO:0006497 cerebral palsy skos:exactMatch ICD10WHO:G80 Cerebral palsy semapv:UnspecifiedMatching MONDO:0006497 cerebral palsy skos:exactMatch MEDGEN:854 semapv:UnspecifiedMatching MONDO:0006497 cerebral palsy skos:exactMatch NCIT:C34460 Cerebral Palsy semapv:UnspecifiedMatching MONDO:0006497 cerebral palsy skos:exactMatch SCTID:128188000 semapv:UnspecifiedMatching MONDO:0006497 cerebral palsy skos:exactMatch UMLS:C0007789 semapv:UnspecifiedMatching MONDO:0006497 cerebral palsy skos:exactMatch icd11.foundation:76906748 Cerebral palsy semapv:UnspecifiedMatching MONDO:0006497 cerebral palsy skos:exactMatch mesh:D002547 semapv:UnspecifiedMatching MONDO:0006498 adenomatous colon polyp skos:exactMatch EFO:1000633 semapv:UnspecifiedMatching MONDO:0006498 adenomatous colon polyp skos:exactMatch MEDGEN:163407 semapv:UnspecifiedMatching MONDO:0006498 adenomatous colon polyp skos:exactMatch NCIT:C96479 Colon Adenomatous Polyp semapv:UnspecifiedMatching MONDO:0006498 adenomatous colon polyp skos:exactMatch SCTID:428054006 semapv:UnspecifiedMatching MONDO:0006498 adenomatous colon polyp skos:exactMatch UMLS:C0850572 semapv:UnspecifiedMatching MONDO:0006498 adenomatous colon polyp skos:exactMatch icd11.foundation:248829180 Adenomatous polyp of the colon semapv:UnspecifiedMatching MONDO:0006499 hamartoma skos:exactMatch DOID:3462 hamartoma semapv:UnspecifiedMatching MONDO:0006499 hamartoma skos:exactMatch EFO:1000634 semapv:UnspecifiedMatching MONDO:0006499 hamartoma skos:exactMatch MEDGEN:6713 semapv:UnspecifiedMatching MONDO:0006499 hamartoma skos:exactMatch NCIT:C3075 Hamartoma semapv:UnspecifiedMatching MONDO:0006499 hamartoma skos:exactMatch SCTID:400006008 semapv:UnspecifiedMatching MONDO:0006499 hamartoma skos:exactMatch UMLS:C0018552 semapv:UnspecifiedMatching MONDO:0006499 hamartoma skos:exactMatch mesh:D006222 semapv:UnspecifiedMatching MONDO:0006500 hemangioma skos:exactMatch DOID:255 hemangioma semapv:UnspecifiedMatching MONDO:0006500 hemangioma skos:exactMatch EFO:1000635 semapv:UnspecifiedMatching MONDO:0006500 hemangioma skos:exactMatch ICD10CM:D18.0 Hemangioma semapv:UnspecifiedMatching MONDO:0006500 hemangioma skos:exactMatch MEDGEN:5477 semapv:UnspecifiedMatching MONDO:0006500 hemangioma skos:exactMatch NCIT:C3085 Hemangioma semapv:UnspecifiedMatching MONDO:0006500 hemangioma skos:exactMatch SCTID:400210000 semapv:UnspecifiedMatching MONDO:0006500 hemangioma skos:exactMatch UMLS:C0018916 semapv:UnspecifiedMatching MONDO:0006500 hemangioma skos:exactMatch mesh:D006391 semapv:UnspecifiedMatching MONDO:0006502 acute respiratory distress syndrome skos:exactMatch EFO:1000637 semapv:UnspecifiedMatching MONDO:0006502 acute respiratory distress syndrome skos:exactMatch ICD10CM:J80 Acute respiratory distress syndrome semapv:UnspecifiedMatching MONDO:0006502 acute respiratory distress syndrome skos:exactMatch MEDGEN:1812214 semapv:UnspecifiedMatching MONDO:0006502 acute respiratory distress syndrome skos:exactMatch NCIT:C3353 Acute Respiratory Distress Syndrome semapv:UnspecifiedMatching MONDO:0006502 acute respiratory distress syndrome skos:exactMatch UMLS:C2887484 semapv:UnspecifiedMatching MONDO:0006502 acute respiratory distress syndrome skos:exactMatch icd11.foundation:1189702844 Acute respiratory distress syndrome semapv:UnspecifiedMatching MONDO:0006504 acquired metabolic disease skos:exactMatch DOID:0060158 acquired metabolic disease semapv:UnspecifiedMatching MONDO:0006504 acquired metabolic disease skos:exactMatch EFO:1000639 semapv:UnspecifiedMatching MONDO:0006505 basal ganglia cerebrovascular disorder skos:exactMatch DOID:10991 basal ganglia cerebrovascular disease semapv:UnspecifiedMatching MONDO:0006505 basal ganglia cerebrovascular disorder skos:exactMatch EFO:1000640 semapv:UnspecifiedMatching MONDO:0006505 basal ganglia cerebrovascular disorder skos:exactMatch MEDGEN:148381 semapv:UnspecifiedMatching MONDO:0006505 basal ganglia cerebrovascular disorder skos:exactMatch UMLS:C0751739 semapv:UnspecifiedMatching MONDO:0006505 basal ganglia cerebrovascular disorder skos:exactMatch mesh:D020144 semapv:UnspecifiedMatching MONDO:0006506 congenital nonspherocytic hemolytic anemia skos:exactMatch DOID:2861 congenital nonspherocytic hemolytic anemia semapv:UnspecifiedMatching MONDO:0006506 congenital nonspherocytic hemolytic anemia skos:exactMatch EFO:1000641 semapv:UnspecifiedMatching MONDO:0006506 congenital nonspherocytic hemolytic anemia skos:exactMatch MEDGEN:284 semapv:UnspecifiedMatching MONDO:0006506 congenital nonspherocytic hemolytic anemia skos:exactMatch OMIMPS:300908 Anemia, congenital, nonspherocytic hemolytic semapv:UnspecifiedMatching MONDO:0006506 congenital nonspherocytic hemolytic anemia skos:exactMatch SCTID:301317008 semapv:UnspecifiedMatching MONDO:0006506 congenital nonspherocytic hemolytic anemia skos:exactMatch UMLS:C0002882 semapv:UnspecifiedMatching MONDO:0006506 congenital nonspherocytic hemolytic anemia skos:exactMatch mesh:D000746 semapv:UnspecifiedMatching MONDO:0006507 hereditary hemochromatosis skos:exactMatch DOID:2352 hemochromatosis semapv:UnspecifiedMatching MONDO:0006507 hereditary hemochromatosis skos:exactMatch ICD10CM:E83.110 Hereditary hemochromatosis semapv:UnspecifiedMatching MONDO:0006507 hereditary hemochromatosis skos:exactMatch MEDGEN:140272 semapv:UnspecifiedMatching MONDO:0006507 hereditary hemochromatosis skos:exactMatch NCIT:C84481 Hereditary Hemochromatosis semapv:UnspecifiedMatching MONDO:0006507 hereditary hemochromatosis skos:exactMatch OMIMPS:235200 Hemochromatosis semapv:UnspecifiedMatching MONDO:0006507 hereditary hemochromatosis skos:exactMatch SCTID:35400008 semapv:UnspecifiedMatching MONDO:0006507 hereditary hemochromatosis skos:exactMatch UMLS:C0392514 semapv:UnspecifiedMatching MONDO:0006507 hereditary hemochromatosis skos:exactMatch mesh:D006432 semapv:UnspecifiedMatching MONDO:0006509 papillary carcinoma skos:exactMatch DOID:3113 papillary carcinoma semapv:UnspecifiedMatching MONDO:0006509 papillary carcinoma skos:exactMatch EFO:1000646 semapv:UnspecifiedMatching MONDO:0006509 papillary carcinoma skos:exactMatch MEDGEN:40105 semapv:UnspecifiedMatching MONDO:0006509 papillary carcinoma skos:exactMatch NCIT:C2927 Papillary Carcinoma semapv:UnspecifiedMatching MONDO:0006509 papillary carcinoma skos:exactMatch UMLS:C0007133 semapv:UnspecifiedMatching MONDO:0006509 papillary carcinoma skos:exactMatch mesh:D002291 semapv:UnspecifiedMatching MONDO:0006510 renal tubular transport disease skos:exactMatch DOID:447 renal tubular transport disease semapv:UnspecifiedMatching MONDO:0006510 renal tubular transport disease skos:exactMatch EFO:1000647 semapv:UnspecifiedMatching MONDO:0006510 renal tubular transport disease skos:exactMatch MEDGEN:19728 semapv:UnspecifiedMatching MONDO:0006510 renal tubular transport disease skos:exactMatch UMLS:C0035091 semapv:UnspecifiedMatching MONDO:0006510 renal tubular transport disease skos:exactMatch mesh:D015499 semapv:UnspecifiedMatching MONDO:0006512 estrogen-receptor positive breast cancer skos:exactMatch DOID:0060075 estrogen-receptor positive breast cancer semapv:UnspecifiedMatching MONDO:0006512 estrogen-receptor positive breast cancer skos:exactMatch EFO:1000649 semapv:UnspecifiedMatching MONDO:0006512 estrogen-receptor positive breast cancer skos:exactMatch MEDGEN:1843470 semapv:UnspecifiedMatching MONDO:0006512 estrogen-receptor positive breast cancer skos:exactMatch UMLS:C2938924 semapv:UnspecifiedMatching MONDO:0006513 estrogen-receptor negative breast cancer skos:exactMatch DOID:0060076 estrogen-receptor negative breast cancer semapv:UnspecifiedMatching MONDO:0006513 estrogen-receptor negative breast cancer skos:exactMatch EFO:1000650 semapv:UnspecifiedMatching MONDO:0006515 acute pancreatitis skos:exactMatch DOID:2913 acute pancreatitis semapv:UnspecifiedMatching MONDO:0006515 acute pancreatitis skos:exactMatch EFO:1000652 semapv:UnspecifiedMatching MONDO:0006515 acute pancreatitis skos:exactMatch ICD10CM:K85 Acute pancreatitis semapv:UnspecifiedMatching MONDO:0006515 acute pancreatitis skos:exactMatch ICD10WHO:K85 Acute pancreatitis semapv:UnspecifiedMatching MONDO:0006515 acute pancreatitis skos:exactMatch MEDGEN:7872 semapv:UnspecifiedMatching MONDO:0006515 acute pancreatitis skos:exactMatch NCIT:C95437 Acute Pancreatitis semapv:UnspecifiedMatching MONDO:0006515 acute pancreatitis skos:exactMatch SCTID:7881005 semapv:UnspecifiedMatching MONDO:0006515 acute pancreatitis skos:exactMatch UMLS:C0001339 semapv:UnspecifiedMatching MONDO:0006515 acute pancreatitis skos:exactMatch icd11.foundation:698285441 Acute pancreatitis semapv:UnspecifiedMatching MONDO:0006516 obsolete sarcopenia skos:exactMatch ICD10CM:M62.84 Sarcopenia semapv:UnspecifiedMatching MONDO:0006516 obsolete sarcopenia skos:exactMatch mesh:D055948 semapv:UnspecifiedMatching MONDO:0006517 childhood malignant neoplasm skos:exactMatch EFO:1000654 semapv:UnspecifiedMatching MONDO:0006517 childhood malignant neoplasm skos:exactMatch MEDGEN:82962 semapv:UnspecifiedMatching MONDO:0006517 childhood malignant neoplasm skos:exactMatch NCIT:C4005 Childhood Malignant Neoplasm semapv:UnspecifiedMatching MONDO:0006517 childhood malignant neoplasm skos:exactMatch UMLS:C0278704 semapv:UnspecifiedMatching MONDO:0006518 obsolete sporadic Creutzfeld Jacob disease skos:exactMatch EFO:1000656 semapv:UnspecifiedMatching MONDO:0006519 rectal cancer skos:exactMatch DOID:1993 rectum cancer semapv:UnspecifiedMatching MONDO:0006519 rectal cancer skos:exactMatch EFO:1000657 semapv:UnspecifiedMatching MONDO:0006519 rectal cancer skos:exactMatch ICD10CM:C20 Malignant neoplasm of rectum semapv:UnspecifiedMatching MONDO:0006519 rectal cancer skos:exactMatch MEDGEN:181763 semapv:UnspecifiedMatching MONDO:0006519 rectal cancer skos:exactMatch NCIT:C7418 Malignant Rectal Neoplasm semapv:UnspecifiedMatching MONDO:0006519 rectal cancer skos:exactMatch SCTID:363351006 semapv:UnspecifiedMatching MONDO:0006519 rectal cancer skos:exactMatch UMLS:C0949022 semapv:UnspecifiedMatching MONDO:0006519 rectal cancer skos:exactMatch icd11.foundation:1113099195 Malignant neoplasms of rectum semapv:UnspecifiedMatching MONDO:0006520 Achenbach syndrome skos:exactMatch DOID:6687 Achenbach syndrome semapv:UnspecifiedMatching MONDO:0006520 Achenbach syndrome skos:exactMatch EFO:1000661 semapv:UnspecifiedMatching MONDO:0006520 Achenbach syndrome skos:exactMatch MEDGEN:99176 semapv:UnspecifiedMatching MONDO:0006520 Achenbach syndrome skos:exactMatch NCIT:C35467 Achenbach Syndrome semapv:UnspecifiedMatching MONDO:0006520 Achenbach syndrome skos:exactMatch SCTID:238824006 semapv:UnspecifiedMatching MONDO:0006520 Achenbach syndrome skos:exactMatch UMLS:C0473563 semapv:UnspecifiedMatching MONDO:0006521 acneiform dermatitis skos:exactMatch DOID:4399 acneiform dermatitis semapv:UnspecifiedMatching MONDO:0006521 acneiform dermatitis skos:exactMatch EFO:1000662 semapv:UnspecifiedMatching MONDO:0006521 acneiform dermatitis skos:exactMatch MEDGEN:68607 semapv:UnspecifiedMatching MONDO:0006521 acneiform dermatitis skos:exactMatch NCIT:C35277 Acneiform Dermatitis semapv:UnspecifiedMatching MONDO:0006521 acneiform dermatitis skos:exactMatch UMLS:C0234894 semapv:UnspecifiedMatching MONDO:0006522 acquired keratosis skos:exactMatch DOID:13072 acquired hyperkeratosis semapv:UnspecifiedMatching MONDO:0006522 acquired keratosis skos:exactMatch MEDGEN:44016 semapv:UnspecifiedMatching MONDO:0006522 acquired keratosis skos:exactMatch NCIT:C34746 Acquired Keratoderma semapv:UnspecifiedMatching MONDO:0006522 acquired keratosis skos:exactMatch SCTID:400166009 semapv:UnspecifiedMatching MONDO:0006522 acquired keratosis skos:exactMatch UMLS:C0022581 semapv:UnspecifiedMatching MONDO:0006523 acrodermatitis skos:exactMatch DOID:2722 acrodermatitis semapv:UnspecifiedMatching MONDO:0006523 acrodermatitis skos:exactMatch EFO:1000664 semapv:UnspecifiedMatching MONDO:0006523 acrodermatitis skos:exactMatch MEDGEN:1301 semapv:UnspecifiedMatching MONDO:0006523 acrodermatitis skos:exactMatch NCIT:C84532 Acrodermatitis semapv:UnspecifiedMatching MONDO:0006523 acrodermatitis skos:exactMatch SCTID:8197001 semapv:UnspecifiedMatching MONDO:0006523 acrodermatitis skos:exactMatch UMLS:C0001197 semapv:UnspecifiedMatching MONDO:0006523 acrodermatitis skos:exactMatch mesh:D000169 semapv:UnspecifiedMatching MONDO:0006524 acrodermatitis chronica atrophicans skos:exactMatch DOID:0060344 acrodermatitis chronica atrophicans semapv:UnspecifiedMatching MONDO:0006524 acrodermatitis chronica atrophicans skos:exactMatch EFO:1000665 semapv:UnspecifiedMatching MONDO:0006524 acrodermatitis chronica atrophicans skos:exactMatch ICD10CM:L90.4 Acrodermatitis chronica atrophicans semapv:UnspecifiedMatching MONDO:0006524 acrodermatitis chronica atrophicans skos:exactMatch MEDGEN:537873 semapv:UnspecifiedMatching MONDO:0006524 acrodermatitis chronica atrophicans skos:exactMatch SCTID:4340003 semapv:UnspecifiedMatching MONDO:0006524 acrodermatitis chronica atrophicans skos:exactMatch UMLS:C0263421 semapv:UnspecifiedMatching MONDO:0006524 acrodermatitis chronica atrophicans skos:exactMatch icd11.foundation:1761234822 Acrodermatitis chronica atrophicans semapv:UnspecifiedMatching MONDO:0006525 allergic contact dermatitis skos:exactMatch DOID:3042 allergic contact dermatitis semapv:UnspecifiedMatching MONDO:0006525 allergic contact dermatitis skos:exactMatch EFO:1000668 semapv:UnspecifiedMatching MONDO:0006525 allergic contact dermatitis skos:exactMatch ICD10CM:L23 Allergic contact dermatitis semapv:UnspecifiedMatching MONDO:0006525 allergic contact dermatitis skos:exactMatch ICD10WHO:L23 Allergic contact dermatitis semapv:UnspecifiedMatching MONDO:0006525 allergic contact dermatitis skos:exactMatch MEDGEN:102474 semapv:UnspecifiedMatching MONDO:0006525 allergic contact dermatitis skos:exactMatch NCIT:C26998 Allergic Contact Dermatitis semapv:UnspecifiedMatching MONDO:0006525 allergic contact dermatitis skos:exactMatch SCTID:238575004 semapv:UnspecifiedMatching MONDO:0006525 allergic contact dermatitis skos:exactMatch UMLS:C0162820 semapv:UnspecifiedMatching MONDO:0006525 allergic contact dermatitis skos:exactMatch icd11.foundation:2020673786 Allergic contact dermatitis semapv:UnspecifiedMatching MONDO:0006525 allergic contact dermatitis skos:exactMatch mesh:D017449 semapv:UnspecifiedMatching MONDO:0006526 allergic urticaria skos:exactMatch DOID:10612 allergic urticaria semapv:UnspecifiedMatching MONDO:0006526 allergic urticaria skos:exactMatch EFO:1000669 semapv:UnspecifiedMatching MONDO:0006526 allergic urticaria skos:exactMatch ICD10CM:L50.0 Allergic urticaria semapv:UnspecifiedMatching MONDO:0006526 allergic urticaria skos:exactMatch MEDGEN:508394 semapv:UnspecifiedMatching MONDO:0006526 allergic urticaria skos:exactMatch SCTID:40178009 semapv:UnspecifiedMatching MONDO:0006526 allergic urticaria skos:exactMatch UMLS:C0149526 semapv:UnspecifiedMatching MONDO:0006527 anhidrosis skos:exactMatch DOID:11156 anhidrosis semapv:UnspecifiedMatching MONDO:0006527 anhidrosis skos:exactMatch EFO:1000670 semapv:UnspecifiedMatching MONDO:0006527 anhidrosis skos:exactMatch ICD10CM:L74.4 Anhidrosis semapv:UnspecifiedMatching MONDO:0006527 anhidrosis skos:exactMatch MEDGEN:1550 semapv:UnspecifiedMatching MONDO:0006527 anhidrosis skos:exactMatch SCTID:39659002 semapv:UnspecifiedMatching MONDO:0006527 anhidrosis skos:exactMatch UMLS:C0003028 semapv:UnspecifiedMatching MONDO:0006528 bacterial exanthem skos:exactMatch DOID:0050487 bacterial exanthem semapv:UnspecifiedMatching MONDO:0006530 cholesteatoma skos:exactMatch DOID:869 cholesteatoma semapv:UnspecifiedMatching MONDO:0006530 cholesteatoma skos:exactMatch EFO:1000675 semapv:UnspecifiedMatching MONDO:0006530 cholesteatoma skos:exactMatch MEDGEN:3043 semapv:UnspecifiedMatching MONDO:0006530 cholesteatoma skos:exactMatch NCIT:C2944 Cholesteatoma semapv:UnspecifiedMatching MONDO:0006530 cholesteatoma skos:exactMatch SCTID:363668000 semapv:UnspecifiedMatching MONDO:0006530 cholesteatoma skos:exactMatch UMLS:C0008373 semapv:UnspecifiedMatching MONDO:0006530 cholesteatoma skos:exactMatch mesh:D002781 semapv:UnspecifiedMatching MONDO:0006531 cholesteatoma of attic skos:exactMatch DOID:10963 cholesteatoma of attic semapv:UnspecifiedMatching MONDO:0006531 cholesteatoma of attic skos:exactMatch EFO:1000676 semapv:UnspecifiedMatching MONDO:0006531 cholesteatoma of attic skos:exactMatch ICD10CM:H71.0 Cholesteatoma of attic semapv:UnspecifiedMatching MONDO:0006531 cholesteatoma of attic skos:exactMatch MEDGEN:509986 semapv:UnspecifiedMatching MONDO:0006531 cholesteatoma of attic skos:exactMatch SCTID:38708003 semapv:UnspecifiedMatching MONDO:0006531 cholesteatoma of attic skos:exactMatch UMLS:C0155489 semapv:UnspecifiedMatching MONDO:0006532 cholesteatoma of external ear skos:exactMatch DOID:9462 cholesteatoma of external ear semapv:UnspecifiedMatching MONDO:0006532 cholesteatoma of external ear skos:exactMatch EFO:1000677 semapv:UnspecifiedMatching MONDO:0006532 cholesteatoma of external ear skos:exactMatch ICD10CM:H60.4 Cholesteatoma of external ear semapv:UnspecifiedMatching MONDO:0006532 cholesteatoma of external ear skos:exactMatch MEDGEN:509952 semapv:UnspecifiedMatching MONDO:0006532 cholesteatoma of external ear skos:exactMatch SCTID:35247001 semapv:UnspecifiedMatching MONDO:0006532 cholesteatoma of external ear skos:exactMatch UMLS:C0155398 semapv:UnspecifiedMatching MONDO:0006533 cholesteatoma of middle ear skos:exactMatch DOID:10964 cholesteatoma of middle ear semapv:UnspecifiedMatching MONDO:0006533 cholesteatoma of middle ear skos:exactMatch EFO:1000678 semapv:UnspecifiedMatching MONDO:0006533 cholesteatoma of middle ear skos:exactMatch ICD10CM:H71 Cholesteatoma of middle ear semapv:UnspecifiedMatching MONDO:0006533 cholesteatoma of middle ear skos:exactMatch ICD10WHO:H71 Cholesteatoma of middle ear semapv:UnspecifiedMatching MONDO:0006533 cholesteatoma of middle ear skos:exactMatch MEDGEN:57836 semapv:UnspecifiedMatching MONDO:0006533 cholesteatoma of middle ear skos:exactMatch NCIT:C3654 Middle Ear Cholesteatoma semapv:UnspecifiedMatching MONDO:0006533 cholesteatoma of middle ear skos:exactMatch SCTID:194339007 semapv:UnspecifiedMatching MONDO:0006533 cholesteatoma of middle ear skos:exactMatch UMLS:C0155490 semapv:UnspecifiedMatching MONDO:0006533 cholesteatoma of middle ear skos:exactMatch icd11.foundation:2134365487 Cholesteatoma of middle ear semapv:UnspecifiedMatching MONDO:0006533 cholesteatoma of middle ear skos:exactMatch mesh:D018424 semapv:UnspecifiedMatching MONDO:0006534 cholinergic urticaria skos:exactMatch DOID:14443 cholinergic urticaria semapv:UnspecifiedMatching MONDO:0006534 cholinergic urticaria skos:exactMatch EFO:1000679 semapv:UnspecifiedMatching MONDO:0006534 cholinergic urticaria skos:exactMatch ICD10CM:L50.5 Cholinergic urticaria semapv:UnspecifiedMatching MONDO:0006534 cholinergic urticaria skos:exactMatch MEDGEN:508939 semapv:UnspecifiedMatching MONDO:0006534 cholinergic urticaria skos:exactMatch SCTID:73098005 semapv:UnspecifiedMatching MONDO:0006534 cholinergic urticaria skos:exactMatch UMLS:C0152230 semapv:UnspecifiedMatching MONDO:0006534 cholinergic urticaria skos:exactMatch icd11.foundation:855107748 Cholinergic urticaria semapv:UnspecifiedMatching MONDO:0006536 congenital generalized lipodystrophy skos:exactMatch DOID:0050585 congenital generalized lipodystrophy semapv:UnspecifiedMatching MONDO:0006536 congenital generalized lipodystrophy skos:exactMatch EFO:1000681 semapv:UnspecifiedMatching MONDO:0006536 congenital generalized lipodystrophy skos:exactMatch MEDGEN:67438 semapv:UnspecifiedMatching MONDO:0006536 congenital generalized lipodystrophy skos:exactMatch OMIMPS:608594 Lipodystrophy, congenital generalized semapv:UnspecifiedMatching MONDO:0006536 congenital generalized lipodystrophy skos:exactMatch SCTID:284449005 semapv:UnspecifiedMatching MONDO:0006536 congenital generalized lipodystrophy skos:exactMatch UMLS:C0221032 semapv:UnspecifiedMatching MONDO:0006537 conjunctival pigmentation skos:exactMatch DOID:12304 conjunctival pigmentation semapv:UnspecifiedMatching MONDO:0006537 conjunctival pigmentation skos:exactMatch MEDGEN:509823 semapv:UnspecifiedMatching MONDO:0006537 conjunctival pigmentation skos:exactMatch SCTID:66081003 semapv:UnspecifiedMatching MONDO:0006537 conjunctival pigmentation skos:exactMatch UMLS:C0155163 semapv:UnspecifiedMatching MONDO:0006539 diffuse lipomatosis skos:exactMatch DOID:3923 diffuse lipomatosis semapv:UnspecifiedMatching MONDO:0006539 diffuse lipomatosis skos:exactMatch MEDGEN:272546 semapv:UnspecifiedMatching MONDO:0006539 diffuse lipomatosis skos:exactMatch NCIT:C6504 Diffuse Lipomatosis semapv:UnspecifiedMatching MONDO:0006539 diffuse lipomatosis skos:exactMatch UMLS:C1333298 semapv:UnspecifiedMatching MONDO:0006540 dyshidrosis skos:exactMatch DOID:9230 pompholyx semapv:UnspecifiedMatching MONDO:0006540 dyshidrosis skos:exactMatch EFO:1000688 semapv:UnspecifiedMatching MONDO:0006540 dyshidrosis skos:exactMatch ICD10CM:L30.1 Dyshidrosis [pompholyx] semapv:UnspecifiedMatching MONDO:0006540 dyshidrosis skos:exactMatch MEDGEN:10851 semapv:UnspecifiedMatching MONDO:0006540 dyshidrosis skos:exactMatch SCTID:402567004 semapv:UnspecifiedMatching MONDO:0006540 dyshidrosis skos:exactMatch UMLS:C0032633 semapv:UnspecifiedMatching MONDO:0006540 dyshidrosis skos:exactMatch mesh:D011146 semapv:UnspecifiedMatching MONDO:0006541 epidermolysis bullosa skos:exactMatch DOID:2730 epidermolysis bullosa semapv:UnspecifiedMatching MONDO:0006541 epidermolysis bullosa skos:exactMatch EFO:1000690 semapv:UnspecifiedMatching MONDO:0006541 epidermolysis bullosa skos:exactMatch ICD10CM:Q81 Epidermolysis bullosa semapv:UnspecifiedMatching MONDO:0006541 epidermolysis bullosa skos:exactMatch ICD10WHO:Q81 Epidermolysis bullosa semapv:UnspecifiedMatching MONDO:0006541 epidermolysis bullosa skos:exactMatch MEDGEN:41832 semapv:UnspecifiedMatching MONDO:0006541 epidermolysis bullosa skos:exactMatch NCIT:C67383 Epidermolysis Bullosa semapv:UnspecifiedMatching MONDO:0006541 epidermolysis bullosa skos:exactMatch SCTID:61003004 semapv:UnspecifiedMatching MONDO:0006541 epidermolysis bullosa skos:exactMatch UMLS:C0014527 semapv:UnspecifiedMatching MONDO:0006541 epidermolysis bullosa skos:exactMatch mesh:D004820 semapv:UnspecifiedMatching MONDO:0006543 epidermolysis bullosa dystrophica skos:exactMatch DOID:4959 epidermolysis bullosa dystrophica semapv:UnspecifiedMatching MONDO:0006543 epidermolysis bullosa dystrophica skos:exactMatch EFO:1000692 semapv:UnspecifiedMatching MONDO:0006543 epidermolysis bullosa dystrophica skos:exactMatch ICD10CM:Q81.2 Epidermolysis bullosa dystrophica semapv:UnspecifiedMatching MONDO:0006543 epidermolysis bullosa dystrophica skos:exactMatch MEDGEN:37179 semapv:UnspecifiedMatching MONDO:0006543 epidermolysis bullosa dystrophica skos:exactMatch NCIT:C84691 Epidermolysis Bullosa Dystrophica semapv:UnspecifiedMatching MONDO:0006543 epidermolysis bullosa dystrophica skos:exactMatch Orphanet:303 Dystrophic epidermolysis bullosa semapv:UnspecifiedMatching MONDO:0006543 epidermolysis bullosa dystrophica skos:exactMatch SCTID:254185007 semapv:UnspecifiedMatching MONDO:0006543 epidermolysis bullosa dystrophica skos:exactMatch UMLS:C0079294 semapv:UnspecifiedMatching MONDO:0006543 epidermolysis bullosa dystrophica skos:exactMatch icd11.foundation:1060981106 Dystrophic epidermolysis bullosa semapv:UnspecifiedMatching MONDO:0006543 epidermolysis bullosa dystrophica skos:exactMatch mesh:D016108 semapv:UnspecifiedMatching MONDO:0006544 erythema infectiosum skos:exactMatch DOID:8743 erythema infectiosum semapv:UnspecifiedMatching MONDO:0006544 erythema infectiosum skos:exactMatch EFO:1000693 semapv:UnspecifiedMatching MONDO:0006544 erythema infectiosum skos:exactMatch ICD10CM:B08.3 Erythema infectiosum [fifth disease] semapv:UnspecifiedMatching MONDO:0006544 erythema infectiosum skos:exactMatch MEDGEN:43142 semapv:UnspecifiedMatching MONDO:0006544 erythema infectiosum skos:exactMatch NCIT:C84695 Erythema Infectiosum semapv:UnspecifiedMatching MONDO:0006544 erythema infectiosum skos:exactMatch SCTID:34730008 semapv:UnspecifiedMatching MONDO:0006544 erythema infectiosum skos:exactMatch UMLS:C0085273 semapv:UnspecifiedMatching MONDO:0006544 erythema infectiosum skos:exactMatch icd11.foundation:352375140 Erythema infectiosum semapv:UnspecifiedMatching MONDO:0006544 erythema infectiosum skos:exactMatch mesh:D016731 semapv:UnspecifiedMatching MONDO:0006545 erythema multiforme skos:exactMatch DOID:0050185 erythema multiforme semapv:UnspecifiedMatching MONDO:0006545 erythema multiforme skos:exactMatch EFO:1000694 semapv:UnspecifiedMatching MONDO:0006545 erythema multiforme skos:exactMatch ICD10CM:L51 Erythema multiforme semapv:UnspecifiedMatching MONDO:0006545 erythema multiforme skos:exactMatch ICD10WHO:L51 Erythema multiforme semapv:UnspecifiedMatching MONDO:0006545 erythema multiforme skos:exactMatch MEDGEN:4527 semapv:UnspecifiedMatching MONDO:0006545 erythema multiforme skos:exactMatch NCIT:C3024 Erythema Multiforme semapv:UnspecifiedMatching MONDO:0006545 erythema multiforme skos:exactMatch SCTID:36715001 semapv:UnspecifiedMatching MONDO:0006545 erythema multiforme skos:exactMatch UMLS:C0014742 semapv:UnspecifiedMatching MONDO:0006545 erythema multiforme skos:exactMatch icd11.foundation:364669853 Erythema multiforme semapv:UnspecifiedMatching MONDO:0006545 erythema multiforme skos:exactMatch mesh:D004892 semapv:UnspecifiedMatching MONDO:0006546 erythematosquamous dermatosis skos:exactMatch DOID:9097 erythematosquamous dermatosis semapv:UnspecifiedMatching MONDO:0006546 erythematosquamous dermatosis skos:exactMatch EFO:1000695 semapv:UnspecifiedMatching MONDO:0006546 erythematosquamous dermatosis skos:exactMatch MEDGEN:5014 semapv:UnspecifiedMatching MONDO:0006546 erythematosquamous dermatosis skos:exactMatch NCIT:C34591 Erythematosquamous Dermatosis semapv:UnspecifiedMatching MONDO:0006546 erythematosquamous dermatosis skos:exactMatch SCTID:54792008 semapv:UnspecifiedMatching MONDO:0006546 erythematosquamous dermatosis skos:exactMatch UMLS:C0014747 semapv:UnspecifiedMatching MONDO:0006547 exanthem skos:exactMatch DOID:0050486 exanthem semapv:UnspecifiedMatching MONDO:0006547 exanthem skos:exactMatch EFO:1000697 semapv:UnspecifiedMatching MONDO:0006547 exanthem skos:exactMatch MEDGEN:8732 semapv:UnspecifiedMatching MONDO:0006547 exanthem skos:exactMatch SCTID:271807003 semapv:UnspecifiedMatching MONDO:0006547 exanthem skos:exactMatch UMLS:C0015230 semapv:UnspecifiedMatching MONDO:0006547 exanthem skos:exactMatch mesh:D005076 semapv:UnspecifiedMatching MONDO:0006548 facial dermatosis skos:exactMatch DOID:3134 facial dermatosis semapv:UnspecifiedMatching MONDO:0006548 facial dermatosis skos:exactMatch MEDGEN:8760 semapv:UnspecifiedMatching MONDO:0006548 facial dermatosis skos:exactMatch UMLS:C0015456 semapv:UnspecifiedMatching MONDO:0006548 facial dermatosis skos:exactMatch mesh:D005148 semapv:UnspecifiedMatching MONDO:0006549 fibroepithelial polyp of the anus skos:exactMatch DOID:8170 fibroepithelial polyp of the anus semapv:UnspecifiedMatching MONDO:0006549 fibroepithelial polyp of the anus skos:exactMatch EFO:1000699 semapv:UnspecifiedMatching MONDO:0006549 fibroepithelial polyp of the anus skos:exactMatch MEDGEN:87519 semapv:UnspecifiedMatching MONDO:0006549 fibroepithelial polyp of the anus skos:exactMatch NCIT:C4435 Anal Fibroepithelial Polyp semapv:UnspecifiedMatching MONDO:0006549 fibroepithelial polyp of the anus skos:exactMatch SCTID:195469007 semapv:UnspecifiedMatching MONDO:0006549 fibroepithelial polyp of the anus skos:exactMatch UMLS:C0345903 semapv:UnspecifiedMatching MONDO:0006550 fibroepithelial polyp of urethra skos:exactMatch DOID:8108 fibroepithelial polyp of urethra semapv:UnspecifiedMatching MONDO:0006550 fibroepithelial polyp of urethra skos:exactMatch MEDGEN:234460 semapv:UnspecifiedMatching MONDO:0006550 fibroepithelial polyp of urethra skos:exactMatch NCIT:C6170 Urethra Fibroepithelial Polyp semapv:UnspecifiedMatching MONDO:0006550 fibroepithelial polyp of urethra skos:exactMatch UMLS:C1336884 semapv:UnspecifiedMatching MONDO:0006551 alopecia mucinosa skos:exactMatch DOID:9905 follicular mucinosis semapv:UnspecifiedMatching MONDO:0006551 alopecia mucinosa skos:exactMatch EFO:1000701 semapv:UnspecifiedMatching MONDO:0006551 alopecia mucinosa skos:exactMatch ICD10CM:L65.2 Alopecia mucinosa semapv:UnspecifiedMatching MONDO:0006551 alopecia mucinosa skos:exactMatch MEDGEN:1419 semapv:UnspecifiedMatching MONDO:0006551 alopecia mucinosa skos:exactMatch NCIT:C82859 Alopecia Mucinosa semapv:UnspecifiedMatching MONDO:0006551 alopecia mucinosa skos:exactMatch SCTID:27382006 semapv:UnspecifiedMatching MONDO:0006551 alopecia mucinosa skos:exactMatch UMLS:C0002173 semapv:UnspecifiedMatching MONDO:0006551 alopecia mucinosa skos:exactMatch mesh:D000507 semapv:UnspecifiedMatching MONDO:0006552 folliculitis skos:exactMatch DOID:4409 folliculitis semapv:UnspecifiedMatching MONDO:0006552 folliculitis skos:exactMatch EFO:1000702 semapv:UnspecifiedMatching MONDO:0006552 folliculitis skos:exactMatch MEDGEN:4752 semapv:UnspecifiedMatching MONDO:0006552 folliculitis skos:exactMatch NCIT:C94408 Folliculitis semapv:UnspecifiedMatching MONDO:0006552 folliculitis skos:exactMatch SCTID:13600006 semapv:UnspecifiedMatching MONDO:0006552 folliculitis skos:exactMatch UMLS:C0016436 semapv:UnspecifiedMatching MONDO:0006552 folliculitis skos:exactMatch mesh:D005499 semapv:UnspecifiedMatching MONDO:0006553 Fox-Fordyce disease skos:exactMatch DOID:1381 Fox-Fordyce disease semapv:UnspecifiedMatching MONDO:0006553 Fox-Fordyce disease skos:exactMatch ICD10CM:L75.2 Apocrine miliaria semapv:UnspecifiedMatching MONDO:0006553 Fox-Fordyce disease skos:exactMatch MEDGEN:42092 semapv:UnspecifiedMatching MONDO:0006553 Fox-Fordyce disease skos:exactMatch NCIT:C84716 Fox-Fordyce Disease semapv:UnspecifiedMatching MONDO:0006553 Fox-Fordyce disease skos:exactMatch SCTID:65038009 semapv:UnspecifiedMatching MONDO:0006553 Fox-Fordyce disease skos:exactMatch UMLS:C0016632 semapv:UnspecifiedMatching MONDO:0006553 Fox-Fordyce disease skos:exactMatch mesh:D005588 semapv:UnspecifiedMatching MONDO:0006554 granuloma annulare skos:exactMatch DOID:3777 granuloma annulare semapv:UnspecifiedMatching MONDO:0006554 granuloma annulare skos:exactMatch EFO:1000704 semapv:UnspecifiedMatching MONDO:0006554 granuloma annulare skos:exactMatch ICD10CM:L92.0 Granuloma annulare semapv:UnspecifiedMatching MONDO:0006554 granuloma annulare skos:exactMatch MEDGEN:88319 semapv:UnspecifiedMatching MONDO:0006554 granuloma annulare skos:exactMatch NCIT:C3470 Granuloma Annulare semapv:UnspecifiedMatching MONDO:0006554 granuloma annulare skos:exactMatch SCTID:65508009 semapv:UnspecifiedMatching MONDO:0006554 granuloma annulare skos:exactMatch UMLS:C0085074 semapv:UnspecifiedMatching MONDO:0006554 granuloma annulare skos:exactMatch icd11.foundation:1925637202 Granuloma annulare semapv:UnspecifiedMatching MONDO:0006554 granuloma annulare skos:exactMatch mesh:D016460 semapv:UnspecifiedMatching MONDO:0006555 granulomatous dermatitis skos:exactMatch DOID:4397 granulomatous dermatitis semapv:UnspecifiedMatching MONDO:0006555 granulomatous dermatitis skos:exactMatch EFO:1000705 semapv:UnspecifiedMatching MONDO:0006555 granulomatous dermatitis skos:exactMatch MEDGEN:196647 semapv:UnspecifiedMatching MONDO:0006555 granulomatous dermatitis skos:exactMatch NCIT:C3505 Granulomatous Dermatitis semapv:UnspecifiedMatching MONDO:0006555 granulomatous dermatitis skos:exactMatch UMLS:C0743086 semapv:UnspecifiedMatching MONDO:0006556 hand dermatosis skos:exactMatch DOID:3158 hand dermatosis semapv:UnspecifiedMatching MONDO:0006556 hand dermatosis skos:exactMatch EFO:1000706 semapv:UnspecifiedMatching MONDO:0006556 hand dermatosis skos:exactMatch MEDGEN:6718 semapv:UnspecifiedMatching MONDO:0006556 hand dermatosis skos:exactMatch UMLS:C0018567 semapv:UnspecifiedMatching MONDO:0006556 hand dermatosis skos:exactMatch mesh:D006229 semapv:UnspecifiedMatching MONDO:0006557 hemangioma of subcutaneous tissue skos:exactMatch DOID:13081 hemangioma of subcutaneous tissue semapv:UnspecifiedMatching MONDO:0006557 hemangioma of subcutaneous tissue skos:exactMatch MEDGEN:146343 semapv:UnspecifiedMatching MONDO:0006557 hemangioma of subcutaneous tissue skos:exactMatch NCIT:C8540 Subcutaneous Hemangioma semapv:UnspecifiedMatching MONDO:0006557 hemangioma of subcutaneous tissue skos:exactMatch SCTID:93473009 semapv:UnspecifiedMatching MONDO:0006557 hemangioma of subcutaneous tissue skos:exactMatch UMLS:C0685200 semapv:UnspecifiedMatching MONDO:0006558 pemphigoid gestationis skos:exactMatch DOID:0040098 pemphigus gestationis semapv:UnspecifiedMatching MONDO:0006558 pemphigoid gestationis skos:exactMatch DOID:14482 pemphigoid gestationis semapv:UnspecifiedMatching MONDO:0006558 pemphigoid gestationis skos:exactMatch EFO:1000709 semapv:UnspecifiedMatching MONDO:0006558 pemphigoid gestationis skos:exactMatch ICD10CM:O26.4 Herpes gestationis semapv:UnspecifiedMatching MONDO:0006558 pemphigoid gestationis skos:exactMatch MEDGEN:9233 semapv:UnspecifiedMatching MONDO:0006558 pemphigoid gestationis skos:exactMatch NCIT:C85003 Pemphigoid Gestationis semapv:UnspecifiedMatching MONDO:0006558 pemphigoid gestationis skos:exactMatch Orphanet:63275 Pemphigoid gestationis semapv:UnspecifiedMatching MONDO:0006558 pemphigoid gestationis skos:exactMatch SCTID:86081009 semapv:UnspecifiedMatching MONDO:0006558 pemphigoid gestationis skos:exactMatch UMLS:C0019343 semapv:UnspecifiedMatching MONDO:0006558 pemphigoid gestationis skos:exactMatch icd11.foundation:1405755890 Gestational pemphigoid semapv:UnspecifiedMatching MONDO:0006558 pemphigoid gestationis skos:exactMatch mesh:D006559 semapv:UnspecifiedMatching MONDO:0006559 hidradenitis suppurativa skos:exactMatch DOID:2280 hidradenitis suppurativa semapv:UnspecifiedMatching MONDO:0006559 hidradenitis suppurativa skos:exactMatch EFO:1000710 semapv:UnspecifiedMatching MONDO:0006559 hidradenitis suppurativa skos:exactMatch ICD10CM:L73.2 Hidradenitis suppurativa semapv:UnspecifiedMatching MONDO:0006559 hidradenitis suppurativa skos:exactMatch MEDGEN:57993 semapv:UnspecifiedMatching MONDO:0006559 hidradenitis suppurativa skos:exactMatch SCTID:59393003 semapv:UnspecifiedMatching MONDO:0006559 hidradenitis suppurativa skos:exactMatch UMLS:C0162836 semapv:UnspecifiedMatching MONDO:0006559 hidradenitis suppurativa skos:exactMatch icd11.foundation:1621794154 Hidradenitis suppurativa semapv:UnspecifiedMatching MONDO:0006559 hidradenitis suppurativa skos:exactMatch mesh:D017497 semapv:UnspecifiedMatching MONDO:0006560 obsolete hypohidrosis skos:exactMatch DOID:11155 hypohidrosis semapv:UnspecifiedMatching MONDO:0006560 obsolete hypohidrosis skos:exactMatch SCTID:45004005 semapv:UnspecifiedMatching MONDO:0006560 obsolete hypohidrosis skos:exactMatch mesh:D007007 semapv:UnspecifiedMatching MONDO:0006561 eyelid hypopigmentation skos:exactMatch DOID:11668 hypopigmentation of eyelid semapv:UnspecifiedMatching MONDO:0006561 eyelid hypopigmentation skos:exactMatch MEDGEN:509852 semapv:UnspecifiedMatching MONDO:0006561 eyelid hypopigmentation skos:exactMatch SCTID:68210006 semapv:UnspecifiedMatching MONDO:0006561 eyelid hypopigmentation skos:exactMatch UMLS:C0155212 semapv:UnspecifiedMatching MONDO:0006562 obsolete incontinentia pigmenti achromians skos:exactMatch SCTID:218358001 semapv:UnspecifiedMatching MONDO:0006563 inverted follicular keratosis skos:exactMatch DOID:6945 inverted follicular keratosis semapv:UnspecifiedMatching MONDO:0006563 inverted follicular keratosis skos:exactMatch EFO:1000717 semapv:UnspecifiedMatching MONDO:0006563 inverted follicular keratosis skos:exactMatch MEDGEN:87190 semapv:UnspecifiedMatching MONDO:0006563 inverted follicular keratosis skos:exactMatch NCIT:C9007 Inverted Follicular Keratosis semapv:UnspecifiedMatching MONDO:0006563 inverted follicular keratosis skos:exactMatch SCTID:394728005 semapv:UnspecifiedMatching MONDO:0006563 inverted follicular keratosis skos:exactMatch UMLS:C0334019 semapv:UnspecifiedMatching MONDO:0006563 inverted follicular keratosis skos:exactMatch icd11.foundation:2109084329 Inverted follicular keratosis semapv:UnspecifiedMatching MONDO:0006564 irritant dermatitis skos:exactMatch DOID:2772 irritant dermatitis semapv:UnspecifiedMatching MONDO:0006564 irritant dermatitis skos:exactMatch EFO:1000718 semapv:UnspecifiedMatching MONDO:0006564 irritant dermatitis skos:exactMatch ICD10CM:L24 Irritant contact dermatitis semapv:UnspecifiedMatching MONDO:0006564 irritant dermatitis skos:exactMatch MEDGEN:56513 semapv:UnspecifiedMatching MONDO:0006564 irritant dermatitis skos:exactMatch NCIT:C27151 Irritant Contact Dermatitis semapv:UnspecifiedMatching MONDO:0006564 irritant dermatitis skos:exactMatch SCTID:110979008 semapv:UnspecifiedMatching MONDO:0006564 irritant dermatitis skos:exactMatch UMLS:C0162823 semapv:UnspecifiedMatching MONDO:0006564 irritant dermatitis skos:exactMatch mesh:D017453 semapv:UnspecifiedMatching MONDO:0006565 juvenile dermatitis herpetiformis skos:exactMatch DOID:8507 juvenile dermatitis herpetiformis semapv:UnspecifiedMatching MONDO:0006565 juvenile dermatitis herpetiformis skos:exactMatch MEDGEN:508884 semapv:UnspecifiedMatching MONDO:0006565 juvenile dermatitis herpetiformis skos:exactMatch SCTID:5906000 semapv:UnspecifiedMatching MONDO:0006565 juvenile dermatitis herpetiformis skos:exactMatch UMLS:C0152092 semapv:UnspecifiedMatching MONDO:0006566 keratosis skos:exactMatch DOID:161 keratosis semapv:UnspecifiedMatching MONDO:0006566 keratosis skos:exactMatch EFO:1000720 semapv:UnspecifiedMatching MONDO:0006566 keratosis skos:exactMatch MEDGEN:9625 semapv:UnspecifiedMatching MONDO:0006566 keratosis skos:exactMatch NCIT:C34745 Keratoderma semapv:UnspecifiedMatching MONDO:0006566 keratosis skos:exactMatch SCTID:254666005 semapv:UnspecifiedMatching MONDO:0006566 keratosis skos:exactMatch UMLS:C0022593 semapv:UnspecifiedMatching MONDO:0006566 keratosis skos:exactMatch mesh:D007642 semapv:UnspecifiedMatching MONDO:0006567 kernicterus due to isoimmunization skos:exactMatch DOID:12043 kernicterus due to isoimmunization semapv:UnspecifiedMatching MONDO:0006567 kernicterus due to isoimmunization skos:exactMatch ICD10CM:P57.0 Kernicterus due to isoimmunization semapv:UnspecifiedMatching MONDO:0006567 kernicterus due to isoimmunization skos:exactMatch MEDGEN:542597 semapv:UnspecifiedMatching MONDO:0006567 kernicterus due to isoimmunization skos:exactMatch NCIT:C101270 Kernicterus Related to Isoimmunization semapv:UnspecifiedMatching MONDO:0006567 kernicterus due to isoimmunization skos:exactMatch SCTID:359007 semapv:UnspecifiedMatching MONDO:0006567 kernicterus due to isoimmunization skos:exactMatch UMLS:C0270204 semapv:UnspecifiedMatching MONDO:0006567 kernicterus due to isoimmunization skos:exactMatch icd11.foundation:1111245443 Kernicterus due to isoimmunization semapv:UnspecifiedMatching MONDO:0006569 leg dermatosis skos:exactMatch DOID:3142 leg dermatosis semapv:UnspecifiedMatching MONDO:0006569 leg dermatosis skos:exactMatch MEDGEN:9700 semapv:UnspecifiedMatching MONDO:0006569 leg dermatosis skos:exactMatch UMLS:C0023219 semapv:UnspecifiedMatching MONDO:0006569 leg dermatosis skos:exactMatch mesh:D007868 semapv:UnspecifiedMatching MONDO:0006570 lichen disease skos:exactMatch DOID:8574 lichen disease semapv:UnspecifiedMatching MONDO:0006570 lichen disease skos:exactMatch EFO:1000724 semapv:UnspecifiedMatching MONDO:0006570 lichen disease skos:exactMatch MEDGEN:507920 semapv:UnspecifiedMatching MONDO:0006570 lichen disease skos:exactMatch SCTID:88996004 semapv:UnspecifiedMatching MONDO:0006570 lichen disease skos:exactMatch UMLS:C0023643 semapv:UnspecifiedMatching MONDO:0006571 lichen nitidus skos:exactMatch DOID:8573 lichen nitidus semapv:UnspecifiedMatching MONDO:0006571 lichen nitidus skos:exactMatch ICD10CM:L44.1 Lichen nitidus semapv:UnspecifiedMatching MONDO:0006571 lichen nitidus skos:exactMatch MEDGEN:58196 semapv:UnspecifiedMatching MONDO:0006571 lichen nitidus skos:exactMatch SCTID:41890004 semapv:UnspecifiedMatching MONDO:0006571 lichen nitidus skos:exactMatch UMLS:C0162849 semapv:UnspecifiedMatching MONDO:0006571 lichen nitidus skos:exactMatch icd11.foundation:525392264 Lichen nitidus semapv:UnspecifiedMatching MONDO:0006571 lichen nitidus skos:exactMatch mesh:D017513 semapv:UnspecifiedMatching MONDO:0006572 lichen planus skos:exactMatch DOID:9201 lichen planus semapv:UnspecifiedMatching MONDO:0006572 lichen planus skos:exactMatch EFO:1000726 semapv:UnspecifiedMatching MONDO:0006572 lichen planus skos:exactMatch ICD10CM:L43 Lichen planus semapv:UnspecifiedMatching MONDO:0006572 lichen planus skos:exactMatch ICD10WHO:L43 Lichen planus semapv:UnspecifiedMatching MONDO:0006572 lichen planus skos:exactMatch MEDGEN:9753 semapv:UnspecifiedMatching MONDO:0006572 lichen planus skos:exactMatch NCIT:C3189 Lichen Planus semapv:UnspecifiedMatching MONDO:0006572 lichen planus skos:exactMatch SCTID:4776004 semapv:UnspecifiedMatching MONDO:0006572 lichen planus skos:exactMatch UMLS:C0023646 semapv:UnspecifiedMatching MONDO:0006572 lichen planus skos:exactMatch icd11.foundation:1402978031 Lichen planus semapv:UnspecifiedMatching MONDO:0006572 lichen planus skos:exactMatch mesh:D008010 semapv:UnspecifiedMatching MONDO:0006573 lipodystrophy skos:exactMatch DOID:811 lipodystrophy semapv:UnspecifiedMatching MONDO:0006573 lipodystrophy skos:exactMatch EFO:1000727 semapv:UnspecifiedMatching MONDO:0006573 lipodystrophy skos:exactMatch MEDGEN:6111 semapv:UnspecifiedMatching MONDO:0006573 lipodystrophy skos:exactMatch NCIT:C97093 Lipodystrophy semapv:UnspecifiedMatching MONDO:0006573 lipodystrophy skos:exactMatch SCTID:71325002 semapv:UnspecifiedMatching MONDO:0006573 lipodystrophy skos:exactMatch UMLS:C0023787 semapv:UnspecifiedMatching MONDO:0006573 lipodystrophy skos:exactMatch mesh:D008060 semapv:UnspecifiedMatching MONDO:0006574 lipomatosis skos:exactMatch DOID:3153 lipomatosis semapv:UnspecifiedMatching MONDO:0006574 lipomatosis skos:exactMatch EFO:1000728 semapv:UnspecifiedMatching MONDO:0006574 lipomatosis skos:exactMatch MEDGEN:9781 semapv:UnspecifiedMatching MONDO:0006574 lipomatosis skos:exactMatch NCIT:C3193 Lipomatosis semapv:UnspecifiedMatching MONDO:0006574 lipomatosis skos:exactMatch SCTID:402693001 semapv:UnspecifiedMatching MONDO:0006574 lipomatosis skos:exactMatch UMLS:C0023801 semapv:UnspecifiedMatching MONDO:0006574 lipomatosis skos:exactMatch mesh:D008068 semapv:UnspecifiedMatching MONDO:0006576 Ludwig's angina skos:exactMatch DOID:4558 Ludwig's angina semapv:UnspecifiedMatching MONDO:0006576 Ludwig's angina skos:exactMatch MEDGEN:44205 semapv:UnspecifiedMatching MONDO:0006576 Ludwig's angina skos:exactMatch SCTID:196542004 semapv:UnspecifiedMatching MONDO:0006576 Ludwig's angina skos:exactMatch UMLS:C0024081 semapv:UnspecifiedMatching MONDO:0006576 Ludwig's angina skos:exactMatch mesh:D008158 semapv:UnspecifiedMatching MONDO:0006577 maxillary sinus cholesteatoma skos:exactMatch DOID:867 maxillary sinus cholesteatoma semapv:UnspecifiedMatching MONDO:0006577 maxillary sinus cholesteatoma skos:exactMatch MEDGEN:277346 semapv:UnspecifiedMatching MONDO:0006577 maxillary sinus cholesteatoma skos:exactMatch NCIT:C35868 Maxillary Sinus Cholesteatoma semapv:UnspecifiedMatching MONDO:0006577 maxillary sinus cholesteatoma skos:exactMatch UMLS:C1334644 semapv:UnspecifiedMatching MONDO:0006578 mediastinal lipomatosis skos:exactMatch DOID:3926 mediastinal lipomatosis semapv:UnspecifiedMatching MONDO:0006578 mediastinal lipomatosis skos:exactMatch EFO:1000732 semapv:UnspecifiedMatching MONDO:0006578 mediastinal lipomatosis skos:exactMatch MEDGEN:233682 semapv:UnspecifiedMatching MONDO:0006578 mediastinal lipomatosis skos:exactMatch NCIT:C27488 Mediastinal Lipomatosis semapv:UnspecifiedMatching MONDO:0006578 mediastinal lipomatosis skos:exactMatch UMLS:C1334662 semapv:UnspecifiedMatching MONDO:0006579 melanoacanthoma skos:exactMatch DOID:11684 melanoacanthoma semapv:UnspecifiedMatching MONDO:0006579 melanoacanthoma skos:exactMatch EFO:1000733 semapv:UnspecifiedMatching MONDO:0006579 melanoacanthoma skos:exactMatch MEDGEN:272110 semapv:UnspecifiedMatching MONDO:0006579 melanoacanthoma skos:exactMatch NCIT:C27548 Melanoacanthoma semapv:UnspecifiedMatching MONDO:0006579 melanoacanthoma skos:exactMatch SCTID:394727000 semapv:UnspecifiedMatching MONDO:0006579 melanoacanthoma skos:exactMatch UMLS:C1321683 semapv:UnspecifiedMatching MONDO:0006580 miliaria skos:exactMatch DOID:1382 miliaria semapv:UnspecifiedMatching MONDO:0006580 miliaria skos:exactMatch MEDGEN:44443 semapv:UnspecifiedMatching MONDO:0006580 miliaria skos:exactMatch NCIT:C34820 Miliaria semapv:UnspecifiedMatching MONDO:0006580 miliaria skos:exactMatch SCTID:63951004 semapv:UnspecifiedMatching MONDO:0006580 miliaria skos:exactMatch UMLS:C0026113 semapv:UnspecifiedMatching MONDO:0006580 miliaria skos:exactMatch icd11.foundation:204420062 Miliaria semapv:UnspecifiedMatching MONDO:0006580 miliaria skos:exactMatch mesh:D008883 semapv:UnspecifiedMatching MONDO:0006581 miliaria rubra skos:exactMatch DOID:11153 miliaria rubra semapv:UnspecifiedMatching MONDO:0006581 miliaria rubra skos:exactMatch EFO:1000735 semapv:UnspecifiedMatching MONDO:0006581 miliaria rubra skos:exactMatch ICD10CM:L74.0 Miliaria rubra semapv:UnspecifiedMatching MONDO:0006581 miliaria rubra skos:exactMatch MEDGEN:57902 semapv:UnspecifiedMatching MONDO:0006581 miliaria rubra skos:exactMatch SCTID:44279002 semapv:UnspecifiedMatching MONDO:0006581 miliaria rubra skos:exactMatch UMLS:C0162423 semapv:UnspecifiedMatching MONDO:0006581 miliaria rubra skos:exactMatch icd11.foundation:1245016385 Miliaria rubra semapv:UnspecifiedMatching MONDO:0006582 mongolian spot skos:exactMatch DOID:4702 mongolian spot semapv:UnspecifiedMatching MONDO:0006582 mongolian spot skos:exactMatch MEDGEN:75591 semapv:UnspecifiedMatching MONDO:0006582 mongolian spot skos:exactMatch NCIT:C3945 Congenital Dermal Melanocytosis semapv:UnspecifiedMatching MONDO:0006582 mongolian spot skos:exactMatch SCTID:40467008 semapv:UnspecifiedMatching MONDO:0006582 mongolian spot skos:exactMatch UMLS:C0265985 semapv:UnspecifiedMatching MONDO:0006582 mongolian spot skos:exactMatch mesh:D049328 semapv:UnspecifiedMatching MONDO:0006583 necrobiosis lipoidica skos:exactMatch DOID:3486 necrobiosis lipoidica semapv:UnspecifiedMatching MONDO:0006583 necrobiosis lipoidica skos:exactMatch EFO:1000738 semapv:UnspecifiedMatching MONDO:0006583 necrobiosis lipoidica skos:exactMatch MEDGEN:45021 semapv:UnspecifiedMatching MONDO:0006583 necrobiosis lipoidica skos:exactMatch NCIT:C34840 Necrobiosis Lipoidica semapv:UnspecifiedMatching MONDO:0006583 necrobiosis lipoidica skos:exactMatch Orphanet:542592 Necrobiosis lipoidica semapv:UnspecifiedMatching MONDO:0006583 necrobiosis lipoidica skos:exactMatch SCTID:9418005 semapv:UnspecifiedMatching MONDO:0006583 necrobiosis lipoidica skos:exactMatch UMLS:C0027538 semapv:UnspecifiedMatching MONDO:0006583 necrobiosis lipoidica skos:exactMatch icd11.foundation:655608138 Necrobiosis lipoidica semapv:UnspecifiedMatching MONDO:0006583 necrobiosis lipoidica skos:exactMatch mesh:D009335 semapv:UnspecifiedMatching MONDO:0006584 obsolete neonatal jaundice skos:exactMatch DOID:2383 neonatal jaundice semapv:UnspecifiedMatching MONDO:0006584 obsolete neonatal jaundice skos:exactMatch SCTID:387712008 semapv:UnspecifiedMatching MONDO:0006584 obsolete neonatal jaundice skos:exactMatch mesh:D007567 semapv:UnspecifiedMatching MONDO:0006585 neurodermatitis skos:exactMatch DOID:3309 neurodermatitis semapv:UnspecifiedMatching MONDO:0006585 neurodermatitis skos:exactMatch EFO:1000740 semapv:UnspecifiedMatching MONDO:0006585 neurodermatitis skos:exactMatch ICD10CM:L28.0 Lichen simplex chronicus semapv:UnspecifiedMatching MONDO:0006585 neurodermatitis skos:exactMatch MEDGEN:45056 semapv:UnspecifiedMatching MONDO:0006585 neurodermatitis skos:exactMatch NCIT:C111963 Neurodermatitis semapv:UnspecifiedMatching MONDO:0006585 neurodermatitis skos:exactMatch SCTID:267854005 semapv:UnspecifiedMatching MONDO:0006585 neurodermatitis skos:exactMatch UMLS:C0027822 semapv:UnspecifiedMatching MONDO:0006585 neurodermatitis skos:exactMatch mesh:D009450 semapv:UnspecifiedMatching MONDO:0006586 neurotic excoriation skos:exactMatch DOID:9165 neurotic excoriation semapv:UnspecifiedMatching MONDO:0006586 neurotic excoriation skos:exactMatch MEDGEN:697535 semapv:UnspecifiedMatching MONDO:0006586 neurotic excoriation skos:exactMatch SCTID:402736003 semapv:UnspecifiedMatching MONDO:0006586 neurotic excoriation skos:exactMatch UMLS:C1274184 semapv:UnspecifiedMatching MONDO:0006589 occupational dermatitis skos:exactMatch DOID:4404 occupational dermatitis semapv:UnspecifiedMatching MONDO:0006589 occupational dermatitis skos:exactMatch EFO:1000744 semapv:UnspecifiedMatching MONDO:0006589 occupational dermatitis skos:exactMatch MEDGEN:14449 semapv:UnspecifiedMatching MONDO:0006589 occupational dermatitis skos:exactMatch NCIT:C34859 Occupational Dermatitis semapv:UnspecifiedMatching MONDO:0006589 occupational dermatitis skos:exactMatch SCTID:402587003 semapv:UnspecifiedMatching MONDO:0006589 occupational dermatitis skos:exactMatch UMLS:C0028796 semapv:UnspecifiedMatching MONDO:0006589 occupational dermatitis skos:exactMatch mesh:D009783 semapv:UnspecifiedMatching MONDO:0006590 palmoplantar keratosis skos:exactMatch DOID:3390 palmoplantar keratosis semapv:UnspecifiedMatching MONDO:0006590 palmoplantar keratosis skos:exactMatch EFO:1000745 semapv:UnspecifiedMatching MONDO:0006590 palmoplantar keratosis skos:exactMatch MEDGEN:44017 semapv:UnspecifiedMatching MONDO:0006590 palmoplantar keratosis skos:exactMatch NCIT:C34748 Palmoplantar Keratoderma semapv:UnspecifiedMatching MONDO:0006590 palmoplantar keratosis skos:exactMatch SCTID:706885006 semapv:UnspecifiedMatching MONDO:0006590 palmoplantar keratosis skos:exactMatch UMLS:C0022596 semapv:UnspecifiedMatching MONDO:0006591 panniculitis skos:exactMatch DOID:1526 panniculitis semapv:UnspecifiedMatching MONDO:0006591 panniculitis skos:exactMatch EFO:1000746 semapv:UnspecifiedMatching MONDO:0006591 panniculitis skos:exactMatch MEDGEN:45301 semapv:UnspecifiedMatching MONDO:0006591 panniculitis skos:exactMatch NCIT:C33645 Subcutis semapv:UnspecifiedMatching MONDO:0006591 panniculitis skos:exactMatch SCTID:22125009 semapv:UnspecifiedMatching MONDO:0006591 panniculitis skos:exactMatch UMLS:C0030326 semapv:UnspecifiedMatching MONDO:0006591 panniculitis skos:exactMatch icd11.foundation:1056888958 Panniculitis semapv:UnspecifiedMatching MONDO:0006591 panniculitis skos:exactMatch mesh:D015434 semapv:UnspecifiedMatching MONDO:0006592 parapsoriasis skos:exactMatch DOID:9088 parapsoriasis semapv:UnspecifiedMatching MONDO:0006592 parapsoriasis skos:exactMatch EFO:1000747 semapv:UnspecifiedMatching MONDO:0006592 parapsoriasis skos:exactMatch ICD10CM:L41 Parapsoriasis semapv:UnspecifiedMatching MONDO:0006592 parapsoriasis skos:exactMatch ICD10WHO:L41 Parapsoriasis semapv:UnspecifiedMatching MONDO:0006592 parapsoriasis skos:exactMatch MEDGEN:10579 semapv:UnspecifiedMatching MONDO:0006592 parapsoriasis skos:exactMatch NCIT:C3312 Parapsoriasis semapv:UnspecifiedMatching MONDO:0006592 parapsoriasis skos:exactMatch SCTID:88233000 semapv:UnspecifiedMatching MONDO:0006592 parapsoriasis skos:exactMatch UMLS:C0030491 semapv:UnspecifiedMatching MONDO:0006592 parapsoriasis skos:exactMatch mesh:D010267 semapv:UnspecifiedMatching MONDO:0006593 pelvic lipomatosis skos:exactMatch DOID:3927 pelvic lipomatosis semapv:UnspecifiedMatching MONDO:0006593 pelvic lipomatosis skos:exactMatch EFO:1000748 semapv:UnspecifiedMatching MONDO:0006593 pelvic lipomatosis skos:exactMatch MEDGEN:96064 semapv:UnspecifiedMatching MONDO:0006593 pelvic lipomatosis skos:exactMatch NCIT:C27486 Pelvic Lipomatosis semapv:UnspecifiedMatching MONDO:0006593 pelvic lipomatosis skos:exactMatch UMLS:C0406608 semapv:UnspecifiedMatching MONDO:0006593 pelvic lipomatosis skos:exactMatch mesh:C535549 semapv:UnspecifiedMatching MONDO:0006594 pemphigus skos:exactMatch DOID:9182 pemphigus semapv:UnspecifiedMatching MONDO:0006594 pemphigus skos:exactMatch EFO:1000749 semapv:UnspecifiedMatching MONDO:0006594 pemphigus skos:exactMatch ICD10CM:L10 Pemphigus semapv:UnspecifiedMatching MONDO:0006594 pemphigus skos:exactMatch ICD10WHO:L10 Pemphigus semapv:UnspecifiedMatching MONDO:0006594 pemphigus skos:exactMatch MEDGEN:45369 semapv:UnspecifiedMatching MONDO:0006594 pemphigus skos:exactMatch NCIT:C34909 Pemphigus semapv:UnspecifiedMatching MONDO:0006594 pemphigus skos:exactMatch SCTID:65172003 semapv:UnspecifiedMatching MONDO:0006594 pemphigus skos:exactMatch UMLS:C0030807 semapv:UnspecifiedMatching MONDO:0006594 pemphigus skos:exactMatch icd11.foundation:191659986 Pemphigus semapv:UnspecifiedMatching MONDO:0006594 pemphigus skos:exactMatch mesh:D010392 semapv:UnspecifiedMatching MONDO:0006595 perinatal jaundice due to hepatocellular damage skos:exactMatch DOID:11452 perinatal jaundice due to hepatocellular damage semapv:UnspecifiedMatching MONDO:0006595 perinatal jaundice due to hepatocellular damage skos:exactMatch MEDGEN:510683 semapv:UnspecifiedMatching MONDO:0006595 perinatal jaundice due to hepatocellular damage skos:exactMatch SCTID:10877007 semapv:UnspecifiedMatching MONDO:0006595 perinatal jaundice due to hepatocellular damage skos:exactMatch UMLS:C0158976 semapv:UnspecifiedMatching MONDO:0006596 photoallergic dermatitis skos:exactMatch DOID:3818 photoallergic dermatitis semapv:UnspecifiedMatching MONDO:0006596 photoallergic dermatitis skos:exactMatch MEDGEN:56514 semapv:UnspecifiedMatching MONDO:0006596 photoallergic dermatitis skos:exactMatch SCTID:111209006 semapv:UnspecifiedMatching MONDO:0006596 photoallergic dermatitis skos:exactMatch UMLS:C0162824 semapv:UnspecifiedMatching MONDO:0006596 photoallergic dermatitis skos:exactMatch mesh:D017454 semapv:UnspecifiedMatching MONDO:0006597 photosensitivity disease skos:exactMatch DOID:3159 photosensitivity disease semapv:UnspecifiedMatching MONDO:0006597 photosensitivity disease skos:exactMatch EFO:1000752 semapv:UnspecifiedMatching MONDO:0006597 photosensitivity disease skos:exactMatch MEDGEN:19281 semapv:UnspecifiedMatching MONDO:0006597 photosensitivity disease skos:exactMatch SCTID:22649008 semapv:UnspecifiedMatching MONDO:0006597 photosensitivity disease skos:exactMatch UMLS:C0031762 semapv:UnspecifiedMatching MONDO:0006597 photosensitivity disease skos:exactMatch mesh:D010787 semapv:UnspecifiedMatching MONDO:0006598 phototoxic dermatitis skos:exactMatch DOID:4407 phototoxic dermatitis semapv:UnspecifiedMatching MONDO:0006598 phototoxic dermatitis skos:exactMatch EFO:1000753 semapv:UnspecifiedMatching MONDO:0006598 phototoxic dermatitis skos:exactMatch MEDGEN:58188 semapv:UnspecifiedMatching MONDO:0006598 phototoxic dermatitis skos:exactMatch NCIT:C4816 Photosensitive Dermatitis semapv:UnspecifiedMatching MONDO:0006598 phototoxic dermatitis skos:exactMatch SCTID:53597009 semapv:UnspecifiedMatching MONDO:0006598 phototoxic dermatitis skos:exactMatch UMLS:C0162830 semapv:UnspecifiedMatching MONDO:0006598 phototoxic dermatitis skos:exactMatch mesh:D017484 semapv:UnspecifiedMatching MONDO:0006599 physical urticaria skos:exactMatch DOID:0060220 physical urticaria semapv:UnspecifiedMatching MONDO:0006599 physical urticaria skos:exactMatch EFO:1000754 semapv:UnspecifiedMatching MONDO:0006599 physical urticaria skos:exactMatch MEDGEN:1639813 semapv:UnspecifiedMatching MONDO:0006599 physical urticaria skos:exactMatch SCTID:402601007 semapv:UnspecifiedMatching MONDO:0006599 physical urticaria skos:exactMatch UMLS:C4551831 semapv:UnspecifiedMatching MONDO:0006600 obsolete pigmentation disease skos:exactMatch SCTID:414032001 semapv:UnspecifiedMatching MONDO:0006601 pityriasis rosea skos:exactMatch DOID:8892 pityriasis rosea semapv:UnspecifiedMatching MONDO:0006601 pityriasis rosea skos:exactMatch EFO:1000756 semapv:UnspecifiedMatching MONDO:0006601 pityriasis rosea skos:exactMatch ICD10CM:L42 Pityriasis rosea semapv:UnspecifiedMatching MONDO:0006601 pityriasis rosea skos:exactMatch ICD10WHO:L42 Pityriasis rosea semapv:UnspecifiedMatching MONDO:0006601 pityriasis rosea skos:exactMatch MEDGEN:18492 semapv:UnspecifiedMatching MONDO:0006601 pityriasis rosea skos:exactMatch NCIT:C26855 Pityriasis Rosea semapv:UnspecifiedMatching MONDO:0006601 pityriasis rosea skos:exactMatch SCTID:77252004 semapv:UnspecifiedMatching MONDO:0006601 pityriasis rosea skos:exactMatch UMLS:C0032026 semapv:UnspecifiedMatching MONDO:0006601 pityriasis rosea skos:exactMatch icd11.foundation:919892859 Pityriasis rosea semapv:UnspecifiedMatching MONDO:0006601 pityriasis rosea skos:exactMatch mesh:D017515 semapv:UnspecifiedMatching MONDO:0006602 porokeratosis skos:exactMatch DOID:3805 porokeratosis semapv:UnspecifiedMatching MONDO:0006602 porokeratosis skos:exactMatch EFO:1000757 semapv:UnspecifiedMatching MONDO:0006602 porokeratosis skos:exactMatch MEDGEN:56518 semapv:UnspecifiedMatching MONDO:0006602 porokeratosis skos:exactMatch NCIT:C85019 Porokeratosis semapv:UnspecifiedMatching MONDO:0006602 porokeratosis skos:exactMatch OMIMPS:175800 Porokeratosis semapv:UnspecifiedMatching MONDO:0006602 porokeratosis skos:exactMatch Orphanet:79358 Porokeratosis semapv:UnspecifiedMatching MONDO:0006602 porokeratosis skos:exactMatch SCTID:400080004 semapv:UnspecifiedMatching MONDO:0006602 porokeratosis skos:exactMatch UMLS:C0162839 semapv:UnspecifiedMatching MONDO:0006602 porokeratosis skos:exactMatch icd11.foundation:29524620 Porokeratoses semapv:UnspecifiedMatching MONDO:0006602 porokeratosis skos:exactMatch mesh:D017499 semapv:UnspecifiedMatching MONDO:0006603 reactive cutaneous fibrous lesion skos:exactMatch DOID:2053 reactive cutaneous fibrous lesion semapv:UnspecifiedMatching MONDO:0006603 reactive cutaneous fibrous lesion skos:exactMatch EFO:1000759 semapv:UnspecifiedMatching MONDO:0006603 reactive cutaneous fibrous lesion skos:exactMatch MEDGEN:235529 semapv:UnspecifiedMatching MONDO:0006603 reactive cutaneous fibrous lesion skos:exactMatch NCIT:C27549 Reactive Cutaneous Fibrous Lesion semapv:UnspecifiedMatching MONDO:0006603 reactive cutaneous fibrous lesion skos:exactMatch UMLS:C1335666 semapv:UnspecifiedMatching MONDO:0006604 rosacea skos:exactMatch DOID:8881 rosacea semapv:UnspecifiedMatching MONDO:0006604 rosacea skos:exactMatch EFO:1000760 semapv:UnspecifiedMatching MONDO:0006604 rosacea skos:exactMatch ICD10CM:L71 Rosacea semapv:UnspecifiedMatching MONDO:0006604 rosacea skos:exactMatch ICD10WHO:L71 Rosacea semapv:UnspecifiedMatching MONDO:0006604 rosacea skos:exactMatch MEDGEN:11269 semapv:UnspecifiedMatching MONDO:0006604 rosacea skos:exactMatch NCIT:C97136 Rosacea semapv:UnspecifiedMatching MONDO:0006604 rosacea skos:exactMatch SCTID:398909004 semapv:UnspecifiedMatching MONDO:0006604 rosacea skos:exactMatch UMLS:C0035854 semapv:UnspecifiedMatching MONDO:0006604 rosacea skos:exactMatch icd11.foundation:134161404 Rosacea semapv:UnspecifiedMatching MONDO:0006604 rosacea skos:exactMatch mesh:D012393 semapv:UnspecifiedMatching MONDO:0006605 scalp dermatosis skos:exactMatch DOID:3136 scalp dermatosis semapv:UnspecifiedMatching MONDO:0006605 scalp dermatosis skos:exactMatch MEDGEN:19882 semapv:UnspecifiedMatching MONDO:0006605 scalp dermatosis skos:exactMatch SCTID:402694007 semapv:UnspecifiedMatching MONDO:0006605 scalp dermatosis skos:exactMatch UMLS:C0036271 semapv:UnspecifiedMatching MONDO:0006605 scalp dermatosis skos:exactMatch mesh:D012536 semapv:UnspecifiedMatching MONDO:0006606 scleredema adultorum skos:exactMatch DOID:3140 scleredema adultorum semapv:UnspecifiedMatching MONDO:0006606 scleredema adultorum skos:exactMatch EFO:1000762 semapv:UnspecifiedMatching MONDO:0006606 scleredema adultorum skos:exactMatch MEDGEN:11346 semapv:UnspecifiedMatching MONDO:0006606 scleredema adultorum skos:exactMatch NCIT:C85057 Scleredema Adultorum semapv:UnspecifiedMatching MONDO:0006606 scleredema adultorum skos:exactMatch Orphanet:352763 Scleredema semapv:UnspecifiedMatching MONDO:0006606 scleredema adultorum skos:exactMatch SCTID:95323007 semapv:UnspecifiedMatching MONDO:0006606 scleredema adultorum skos:exactMatch UMLS:C0036413 semapv:UnspecifiedMatching MONDO:0006606 scleredema adultorum skos:exactMatch mesh:D012592 semapv:UnspecifiedMatching MONDO:0006607 sebaceous gland disorder skos:exactMatch DOID:9098 sebaceous gland disease semapv:UnspecifiedMatching MONDO:0006607 sebaceous gland disorder skos:exactMatch EFO:1000763 semapv:UnspecifiedMatching MONDO:0006607 sebaceous gland disorder skos:exactMatch MEDGEN:48599 semapv:UnspecifiedMatching MONDO:0006607 sebaceous gland disorder skos:exactMatch SCTID:3441005 semapv:UnspecifiedMatching MONDO:0006607 sebaceous gland disorder skos:exactMatch UMLS:C0036502 semapv:UnspecifiedMatching MONDO:0006607 sebaceous gland disorder skos:exactMatch mesh:D012625 semapv:UnspecifiedMatching MONDO:0006608 seborrheic dermatitis skos:exactMatch DOID:8741 seborrheic dermatitis semapv:UnspecifiedMatching MONDO:0006608 seborrheic dermatitis skos:exactMatch EFO:1000764 semapv:UnspecifiedMatching MONDO:0006608 seborrheic dermatitis skos:exactMatch ICD10CM:L21 Seborrheic dermatitis semapv:UnspecifiedMatching MONDO:0006608 seborrheic dermatitis skos:exactMatch MEDGEN:19912 semapv:UnspecifiedMatching MONDO:0006608 seborrheic dermatitis skos:exactMatch NCIT:C111888 Seborrheic Dermatitis semapv:UnspecifiedMatching MONDO:0006608 seborrheic dermatitis skos:exactMatch UMLS:C0036508 semapv:UnspecifiedMatching MONDO:0006608 seborrheic dermatitis skos:exactMatch mesh:D012628 semapv:UnspecifiedMatching MONDO:0006609 seborrheic infantile dermatitis skos:exactMatch DOID:8941 seborrheic infantile dermatitis semapv:UnspecifiedMatching MONDO:0006609 seborrheic infantile dermatitis skos:exactMatch ICD10CM:L21.1 Seborrheic infantile dermatitis semapv:UnspecifiedMatching MONDO:0006610 skin atrophy skos:exactMatch DOID:2733 skin atrophy semapv:UnspecifiedMatching MONDO:0006610 skin atrophy skos:exactMatch EFO:1000766 semapv:UnspecifiedMatching MONDO:0006610 skin atrophy skos:exactMatch MEDGEN:101793 semapv:UnspecifiedMatching MONDO:0006610 skin atrophy skos:exactMatch NCIT:C35163 Skin Atrophy semapv:UnspecifiedMatching MONDO:0006610 skin atrophy skos:exactMatch SCTID:400190005 semapv:UnspecifiedMatching MONDO:0006610 skin atrophy skos:exactMatch UMLS:C0151514 semapv:UnspecifiedMatching MONDO:0006611 skin sarcoidosis skos:exactMatch DOID:13402 skin sarcoidosis semapv:UnspecifiedMatching MONDO:0006611 skin sarcoidosis skos:exactMatch EFO:1000767 semapv:UnspecifiedMatching MONDO:0006611 skin sarcoidosis skos:exactMatch ICD10CM:D86.3 Sarcoidosis of skin semapv:UnspecifiedMatching MONDO:0006611 skin sarcoidosis skos:exactMatch MEDGEN:19872 semapv:UnspecifiedMatching MONDO:0006611 skin sarcoidosis skos:exactMatch NCIT:C34996 Cutaneous Sarcoidosis semapv:UnspecifiedMatching MONDO:0006611 skin sarcoidosis skos:exactMatch SCTID:55941000 semapv:UnspecifiedMatching MONDO:0006611 skin sarcoidosis skos:exactMatch UMLS:C0036203 semapv:UnspecifiedMatching MONDO:0006612 steroid lipomatosis skos:exactMatch DOID:3925 steroid lipomatosis semapv:UnspecifiedMatching MONDO:0006612 steroid lipomatosis skos:exactMatch MEDGEN:234364 semapv:UnspecifiedMatching MONDO:0006612 steroid lipomatosis skos:exactMatch NCIT:C27487 Steroid Lipomatosis semapv:UnspecifiedMatching MONDO:0006612 steroid lipomatosis skos:exactMatch UMLS:C1336506 semapv:UnspecifiedMatching MONDO:0006613 stromal corneal pigmentation skos:exactMatch DOID:12311 stromal corneal pigmentation semapv:UnspecifiedMatching MONDO:0006613 stromal corneal pigmentation skos:exactMatch ICD10CM:H18.06 Stromal corneal pigmentations semapv:UnspecifiedMatching MONDO:0006613 stromal corneal pigmentation skos:exactMatch MEDGEN:509791 semapv:UnspecifiedMatching MONDO:0006613 stromal corneal pigmentation skos:exactMatch SCTID:55031000 semapv:UnspecifiedMatching MONDO:0006613 stromal corneal pigmentation skos:exactMatch UMLS:C0155105 semapv:UnspecifiedMatching MONDO:0006614 subcorneal pustular dermatosis skos:exactMatch DOID:8508 subcorneal pustular dermatosis semapv:UnspecifiedMatching MONDO:0006614 subcorneal pustular dermatosis skos:exactMatch EFO:1000771 semapv:UnspecifiedMatching MONDO:0006614 subcorneal pustular dermatosis skos:exactMatch ICD10CM:L13.1 Subcorneal pustular dermatitis semapv:UnspecifiedMatching MONDO:0006614 subcorneal pustular dermatosis skos:exactMatch MEDGEN:108687 semapv:UnspecifiedMatching MONDO:0006614 subcorneal pustular dermatosis skos:exactMatch Orphanet:48377 Subcorneal pustular dermatosis semapv:UnspecifiedMatching MONDO:0006614 subcorneal pustular dermatosis skos:exactMatch SCTID:25147002 semapv:UnspecifiedMatching MONDO:0006614 subcorneal pustular dermatosis skos:exactMatch UMLS:C0600336 semapv:UnspecifiedMatching MONDO:0006614 subcorneal pustular dermatosis skos:exactMatch icd11.foundation:1952122675 Subcorneal pustular dermatosis semapv:UnspecifiedMatching MONDO:0006615 sweat gland disorder skos:exactMatch DOID:1383 sweat gland disease semapv:UnspecifiedMatching MONDO:0006615 sweat gland disorder skos:exactMatch MEDGEN:892310 semapv:UnspecifiedMatching MONDO:0006615 sweat gland disorder skos:exactMatch SCTID:88232005 semapv:UnspecifiedMatching MONDO:0006615 sweat gland disorder skos:exactMatch UMLS:C0262643 semapv:UnspecifiedMatching MONDO:0006615 sweat gland disorder skos:exactMatch mesh:D013543 semapv:UnspecifiedMatching MONDO:0006616 toxicodendron dermatitis skos:exactMatch DOID:3819 toxicodendron dermatitis semapv:UnspecifiedMatching MONDO:0006616 toxicodendron dermatitis skos:exactMatch EFO:1000773 semapv:UnspecifiedMatching MONDO:0006616 toxicodendron dermatitis skos:exactMatch MEDGEN:10820 semapv:UnspecifiedMatching MONDO:0006616 toxicodendron dermatitis skos:exactMatch SCTID:410049000 semapv:UnspecifiedMatching MONDO:0006616 toxicodendron dermatitis skos:exactMatch UMLS:C0032342 semapv:UnspecifiedMatching MONDO:0006616 toxicodendron dermatitis skos:exactMatch mesh:D011040 semapv:UnspecifiedMatching MONDO:0006617 vesiculobullous skin disease skos:exactMatch DOID:2731 vesiculobullous skin disease semapv:UnspecifiedMatching MONDO:0006617 vesiculobullous skin disease skos:exactMatch EFO:1000774 semapv:UnspecifiedMatching MONDO:0006617 vesiculobullous skin disease skos:exactMatch MEDGEN:20778 semapv:UnspecifiedMatching MONDO:0006617 vesiculobullous skin disease skos:exactMatch UMLS:C0037275 semapv:UnspecifiedMatching MONDO:0006617 vesiculobullous skin disease skos:exactMatch mesh:D012872 semapv:UnspecifiedMatching MONDO:0006618 vibratory urticaria skos:exactMatch DOID:1554 vibratory urticaria semapv:UnspecifiedMatching MONDO:0006618 vibratory urticaria skos:exactMatch EFO:1000775 semapv:UnspecifiedMatching MONDO:0006618 vibratory urticaria skos:exactMatch ICD10CM:L50.4 Vibratory urticaria semapv:UnspecifiedMatching MONDO:0006618 vibratory urticaria skos:exactMatch MEDGEN:510413 semapv:UnspecifiedMatching MONDO:0006618 vibratory urticaria skos:exactMatch SCTID:51247001 semapv:UnspecifiedMatching MONDO:0006618 vibratory urticaria skos:exactMatch UMLS:C0157743 semapv:UnspecifiedMatching MONDO:0006619 viral exanthem skos:exactMatch DOID:8672 viral exanthem semapv:UnspecifiedMatching MONDO:0006619 viral exanthem skos:exactMatch EFO:1000776 semapv:UnspecifiedMatching MONDO:0006619 viral exanthem skos:exactMatch MEDGEN:509133 semapv:UnspecifiedMatching MONDO:0006619 viral exanthem skos:exactMatch SCTID:49882001 semapv:UnspecifiedMatching MONDO:0006619 viral exanthem skos:exactMatch UMLS:C0153062 semapv:UnspecifiedMatching MONDO:0006620 vulva fibroepithelial polyp skos:exactMatch DOID:8255 vulva fibroepithelial polyp semapv:UnspecifiedMatching MONDO:0006620 vulva fibroepithelial polyp skos:exactMatch MEDGEN:237054 semapv:UnspecifiedMatching MONDO:0006620 vulva fibroepithelial polyp skos:exactMatch NCIT:C6857 Vulvar Fibroepithelial Stromal Polyp semapv:UnspecifiedMatching MONDO:0006620 vulva fibroepithelial polyp skos:exactMatch UMLS:C1336978 semapv:UnspecifiedMatching MONDO:0006621 vulvar inverted follicular keratosis skos:exactMatch DOID:6943 vulvar inverted follicular keratosis semapv:UnspecifiedMatching MONDO:0006621 vulvar inverted follicular keratosis skos:exactMatch MEDGEN:274414 semapv:UnspecifiedMatching MONDO:0006621 vulvar inverted follicular keratosis skos:exactMatch NCIT:C40291 Vulvar Inverted Follicular Keratosis semapv:UnspecifiedMatching MONDO:0006621 vulvar inverted follicular keratosis skos:exactMatch UMLS:C1520084 semapv:UnspecifiedMatching MONDO:0006622 vulvar seborrheic keratosis skos:exactMatch DOID:6944 vulvar seborrheic keratosis semapv:UnspecifiedMatching MONDO:0006622 vulvar seborrheic keratosis skos:exactMatch MEDGEN:237055 semapv:UnspecifiedMatching MONDO:0006622 vulvar seborrheic keratosis skos:exactMatch NCIT:C6375 Vulvar Seborrheic Keratosis semapv:UnspecifiedMatching MONDO:0006622 vulvar seborrheic keratosis skos:exactMatch UMLS:C1336981 semapv:UnspecifiedMatching MONDO:0006624 overactive bladder skos:exactMatch DOID:0070355 overactive bladder syndrome semapv:UnspecifiedMatching MONDO:0006624 overactive bladder skos:exactMatch EFO:1000781 semapv:UnspecifiedMatching MONDO:0006624 overactive bladder skos:exactMatch ICD10CM:N32.81 Overactive bladder semapv:UnspecifiedMatching MONDO:0006624 overactive bladder skos:exactMatch MEDGEN:168058 semapv:UnspecifiedMatching MONDO:0006624 overactive bladder skos:exactMatch SCTID:236633002 semapv:UnspecifiedMatching MONDO:0006624 overactive bladder skos:exactMatch UMLS:C0878773 semapv:UnspecifiedMatching MONDO:0006624 overactive bladder skos:exactMatch icd11.foundation:1118102209 Overactive bladder semapv:UnspecifiedMatching MONDO:0006624 overactive bladder skos:exactMatch mesh:D053201 semapv:UnspecifiedMatching MONDO:0006625 altitude sickness skos:exactMatch EFO:1000782 semapv:UnspecifiedMatching MONDO:0006625 altitude sickness skos:exactMatch MEDGEN:229 semapv:UnspecifiedMatching MONDO:0006625 altitude sickness skos:exactMatch UMLS:C0002351 semapv:UnspecifiedMatching MONDO:0006625 altitude sickness skos:exactMatch icd11.foundation:987050905 Altitude sickness semapv:UnspecifiedMatching MONDO:0006625 altitude sickness skos:exactMatch mesh:D000532 semapv:UnspecifiedMatching MONDO:0006626 diabetic neuropathy skos:exactMatch DOID:9743 diabetic neuropathy semapv:UnspecifiedMatching MONDO:0006626 diabetic neuropathy skos:exactMatch EFO:1000783 semapv:UnspecifiedMatching MONDO:0006626 diabetic neuropathy skos:exactMatch MEDGEN:8353 semapv:UnspecifiedMatching MONDO:0006626 diabetic neuropathy skos:exactMatch NCIT:C26748 Diabetic Neuropathy semapv:UnspecifiedMatching MONDO:0006626 diabetic neuropathy skos:exactMatch SCTID:230572002 semapv:UnspecifiedMatching MONDO:0006626 diabetic neuropathy skos:exactMatch UMLS:C0011882 semapv:UnspecifiedMatching MONDO:0006626 diabetic neuropathy skos:exactMatch mesh:D003929 semapv:UnspecifiedMatching MONDO:0006629 osteoarthritis, hip skos:exactMatch EFO:1000786 semapv:UnspecifiedMatching MONDO:0006629 osteoarthritis, hip skos:exactMatch MEDGEN:14530 semapv:UnspecifiedMatching MONDO:0006629 osteoarthritis, hip skos:exactMatch NCIT:C34876 Hip Osteoarthritis semapv:UnspecifiedMatching MONDO:0006629 osteoarthritis, hip skos:exactMatch UMLS:C0029410 semapv:UnspecifiedMatching MONDO:0006629 osteoarthritis, hip skos:exactMatch mesh:D015207 semapv:UnspecifiedMatching MONDO:0006630 osteoarthritis, spine skos:exactMatch EFO:1000787 semapv:UnspecifiedMatching MONDO:0006630 osteoarthritis, spine skos:exactMatch MEDGEN:389941 semapv:UnspecifiedMatching MONDO:0006630 osteoarthritis, spine skos:exactMatch SCTID:8847002 semapv:UnspecifiedMatching MONDO:0006630 osteoarthritis, spine skos:exactMatch UMLS:C2350242 semapv:UnspecifiedMatching MONDO:0006630 osteoarthritis, spine skos:exactMatch mesh:D055013 semapv:UnspecifiedMatching MONDO:0006631 osteoarthritis, toe skos:exactMatch MEDGEN:592722 semapv:UnspecifiedMatching MONDO:0006631 osteoarthritis, toe skos:exactMatch UMLS:C0409929 semapv:UnspecifiedMatching MONDO:0006632 osteoarthritis, hand skos:exactMatch EFO:1000789 semapv:UnspecifiedMatching MONDO:0006632 osteoarthritis, hand skos:exactMatch MEDGEN:472992 semapv:UnspecifiedMatching MONDO:0006632 osteoarthritis, hand skos:exactMatch UMLS:C0263746 semapv:UnspecifiedMatching MONDO:0006633 acalculous cholecystitis skos:exactMatch DOID:2828 acalculous cholecystitis semapv:UnspecifiedMatching MONDO:0006633 acalculous cholecystitis skos:exactMatch EFO:1000790 semapv:UnspecifiedMatching MONDO:0006633 acalculous cholecystitis skos:exactMatch MEDGEN:82762 semapv:UnspecifiedMatching MONDO:0006633 acalculous cholecystitis skos:exactMatch NCIT:C35578 Acalculous Cholecystitis semapv:UnspecifiedMatching MONDO:0006633 acalculous cholecystitis skos:exactMatch SCTID:19968009 semapv:UnspecifiedMatching MONDO:0006633 acalculous cholecystitis skos:exactMatch UMLS:C0267841 semapv:UnspecifiedMatching MONDO:0006633 acalculous cholecystitis skos:exactMatch mesh:D042101 semapv:UnspecifiedMatching MONDO:0006634 pituitary gland acidophil adenoma skos:exactMatch DOID:5392 acidophil adenoma semapv:UnspecifiedMatching MONDO:0006634 pituitary gland acidophil adenoma skos:exactMatch EFO:1000791 semapv:UnspecifiedMatching MONDO:0006634 pituitary gland acidophil adenoma skos:exactMatch MEDGEN:1748 semapv:UnspecifiedMatching MONDO:0006634 pituitary gland acidophil adenoma skos:exactMatch NCIT:C6780 Pituitary Gland Acidophil Adenoma semapv:UnspecifiedMatching MONDO:0006634 pituitary gland acidophil adenoma skos:exactMatch UMLS:C0001433 semapv:UnspecifiedMatching MONDO:0006634 pituitary gland acidophil adenoma skos:exactMatch mesh:D000239 semapv:UnspecifiedMatching MONDO:0006635 Acinetobacter infectious disease skos:exactMatch DOID:3091 Acinetobacter infectious disease semapv:UnspecifiedMatching MONDO:0006635 Acinetobacter infectious disease skos:exactMatch EFO:1000792 semapv:UnspecifiedMatching MONDO:0006635 Acinetobacter infectious disease skos:exactMatch MEDGEN:1299 semapv:UnspecifiedMatching MONDO:0006635 Acinetobacter infectious disease skos:exactMatch UMLS:C0001139 semapv:UnspecifiedMatching MONDO:0006635 Acinetobacter infectious disease skos:exactMatch mesh:D000151 semapv:UnspecifiedMatching MONDO:0006636 Actinobacillus infectious disease skos:exactMatch mesh:D000189 semapv:UnspecifiedMatching MONDO:0006637 acute kidney tubular necrosis skos:exactMatch DOID:12556 acute kidney tubular necrosis semapv:UnspecifiedMatching MONDO:0006637 acute kidney tubular necrosis skos:exactMatch EFO:1000794 semapv:UnspecifiedMatching MONDO:0006637 acute kidney tubular necrosis skos:exactMatch ICD10CM:N17.0 Acute kidney failure with tubular necrosis semapv:UnspecifiedMatching MONDO:0006637 acute kidney tubular necrosis skos:exactMatch MEDGEN:7213 semapv:UnspecifiedMatching MONDO:0006637 acute kidney tubular necrosis skos:exactMatch NCIT:C34749 Acute Tubular Necrosis semapv:UnspecifiedMatching MONDO:0006637 acute kidney tubular necrosis skos:exactMatch SCTID:35455006 semapv:UnspecifiedMatching MONDO:0006637 acute kidney tubular necrosis skos:exactMatch UMLS:C0022672 semapv:UnspecifiedMatching MONDO:0006637 acute kidney tubular necrosis skos:exactMatch mesh:D007683 semapv:UnspecifiedMatching MONDO:0006638 acute retinal necrosis syndrome skos:exactMatch DOID:3611 acute retinal necrosis syndrome semapv:UnspecifiedMatching MONDO:0006638 acute retinal necrosis syndrome skos:exactMatch EFO:1000795 semapv:UnspecifiedMatching MONDO:0006638 acute retinal necrosis syndrome skos:exactMatch MEDGEN:48434 semapv:UnspecifiedMatching MONDO:0006638 acute retinal necrosis syndrome skos:exactMatch SCTID:231986000 semapv:UnspecifiedMatching MONDO:0006638 acute retinal necrosis syndrome skos:exactMatch UMLS:C0035319 semapv:UnspecifiedMatching MONDO:0006638 acute retinal necrosis syndrome skos:exactMatch mesh:D015882 semapv:UnspecifiedMatching MONDO:0006639 adrenal cortex carcinoma skos:exactMatch DOID:3948 adrenocortical carcinoma semapv:UnspecifiedMatching MONDO:0006639 adrenal cortex carcinoma skos:exactMatch DOID:3959 adrenal cortical adenocarcinoma semapv:UnspecifiedMatching MONDO:0006639 adrenal cortex carcinoma skos:exactMatch DOID:660 adrenal cortex cancer semapv:UnspecifiedMatching MONDO:0006639 adrenal cortex carcinoma skos:exactMatch EFO:1000796 semapv:UnspecifiedMatching MONDO:0006639 adrenal cortex carcinoma skos:exactMatch MEDGEN:104917 semapv:UnspecifiedMatching MONDO:0006639 adrenal cortex carcinoma skos:exactMatch NCIT:C9325 Adrenal Cortical Carcinoma semapv:UnspecifiedMatching MONDO:0006639 adrenal cortex carcinoma skos:exactMatch Orphanet:1501 Adrenocortical carcinoma semapv:UnspecifiedMatching MONDO:0006639 adrenal cortex carcinoma skos:exactMatch SCTID:255035007 semapv:UnspecifiedMatching MONDO:0006639 adrenal cortex carcinoma skos:exactMatch UMLS:C0206686 semapv:UnspecifiedMatching MONDO:0006639 adrenal cortex carcinoma skos:exactMatch icd11.foundation:114092945 Adrenocortical carcinoma semapv:UnspecifiedMatching MONDO:0006640 adrenal gland hyperfunction skos:exactMatch DOID:3947 adrenal gland hyperfunction semapv:UnspecifiedMatching MONDO:0006640 adrenal gland hyperfunction skos:exactMatch EFO:1000797 semapv:UnspecifiedMatching MONDO:0006640 adrenal gland hyperfunction skos:exactMatch MEDGEN:7899 semapv:UnspecifiedMatching MONDO:0006640 adrenal gland hyperfunction skos:exactMatch SCTID:275437005 semapv:UnspecifiedMatching MONDO:0006640 adrenal gland hyperfunction skos:exactMatch UMLS:C0001622 semapv:UnspecifiedMatching MONDO:0006640 adrenal gland hyperfunction skos:exactMatch mesh:D000308 semapv:UnspecifiedMatching MONDO:0006641 afferent loop syndrome skos:exactMatch DOID:8438 afferent loop syndrome semapv:UnspecifiedMatching MONDO:0006641 afferent loop syndrome skos:exactMatch EFO:1000799 semapv:UnspecifiedMatching MONDO:0006641 afferent loop syndrome skos:exactMatch MEDGEN:161 semapv:UnspecifiedMatching MONDO:0006641 afferent loop syndrome skos:exactMatch SCTID:20813000 semapv:UnspecifiedMatching MONDO:0006641 afferent loop syndrome skos:exactMatch UMLS:C0001727 semapv:UnspecifiedMatching MONDO:0006641 afferent loop syndrome skos:exactMatch mesh:D000343 semapv:UnspecifiedMatching MONDO:0006642 alcohol withdrawal delirium skos:exactMatch EFO:1000800 semapv:UnspecifiedMatching MONDO:0006642 alcohol withdrawal delirium skos:exactMatch MEDGEN:1398 semapv:UnspecifiedMatching MONDO:0006642 alcohol withdrawal delirium skos:exactMatch SCTID:8635005 semapv:UnspecifiedMatching MONDO:0006642 alcohol withdrawal delirium skos:exactMatch UMLS:C0001957 semapv:UnspecifiedMatching MONDO:0006642 alcohol withdrawal delirium skos:exactMatch mesh:D000430 semapv:UnspecifiedMatching MONDO:0006643 alcoholic cardiomyopathy skos:exactMatch DOID:12935 alcoholic cardiomyopathy semapv:UnspecifiedMatching MONDO:0006643 alcoholic cardiomyopathy skos:exactMatch EFO:1000801 semapv:UnspecifiedMatching MONDO:0006643 alcoholic cardiomyopathy skos:exactMatch ICD10CM:I42.6 Alcoholic cardiomyopathy semapv:UnspecifiedMatching MONDO:0006643 alcoholic cardiomyopathy skos:exactMatch MEDGEN:2879 semapv:UnspecifiedMatching MONDO:0006643 alcoholic cardiomyopathy skos:exactMatch NCIT:C53653 Alcoholic Cardiomyopathy semapv:UnspecifiedMatching MONDO:0006643 alcoholic cardiomyopathy skos:exactMatch SCTID:83521008 semapv:UnspecifiedMatching MONDO:0006643 alcoholic cardiomyopathy skos:exactMatch UMLS:C0007192 semapv:UnspecifiedMatching MONDO:0006643 alcoholic cardiomyopathy skos:exactMatch mesh:D002310 semapv:UnspecifiedMatching MONDO:0006644 alcoholic liver cirrhosis skos:exactMatch DOID:14018 alcoholic liver cirrhosis semapv:UnspecifiedMatching MONDO:0006644 alcoholic liver cirrhosis skos:exactMatch EFO:1000802 semapv:UnspecifiedMatching MONDO:0006644 alcoholic liver cirrhosis skos:exactMatch ICD10CM:K70.3 Alcoholic cirrhosis of liver semapv:UnspecifiedMatching MONDO:0006644 alcoholic liver cirrhosis skos:exactMatch MEDGEN:6125 semapv:UnspecifiedMatching MONDO:0006644 alcoholic liver cirrhosis skos:exactMatch NCIT:C34782 Alcoholic Cirrhosis semapv:UnspecifiedMatching MONDO:0006644 alcoholic liver cirrhosis skos:exactMatch SCTID:419728003 semapv:UnspecifiedMatching MONDO:0006644 alcoholic liver cirrhosis skos:exactMatch UMLS:C0023891 semapv:UnspecifiedMatching MONDO:0006644 alcoholic liver cirrhosis skos:exactMatch mesh:D008104 semapv:UnspecifiedMatching MONDO:0006645 alcoholic polyneuropathy skos:exactMatch DOID:14183 alcoholic neuropathy semapv:UnspecifiedMatching MONDO:0006645 alcoholic polyneuropathy skos:exactMatch EFO:1000803 semapv:UnspecifiedMatching MONDO:0006645 alcoholic polyneuropathy skos:exactMatch ICD10CM:G62.1 Alcoholic polyneuropathy semapv:UnspecifiedMatching MONDO:0006645 alcoholic polyneuropathy skos:exactMatch MEDGEN:39087 semapv:UnspecifiedMatching MONDO:0006645 alcoholic polyneuropathy skos:exactMatch NCIT:C26926 Alcoholic Polyneuropathy semapv:UnspecifiedMatching MONDO:0006645 alcoholic polyneuropathy skos:exactMatch SCTID:7916009 semapv:UnspecifiedMatching MONDO:0006645 alcoholic polyneuropathy skos:exactMatch UMLS:C0085677 semapv:UnspecifiedMatching MONDO:0006645 alcoholic polyneuropathy skos:exactMatch icd11.foundation:597341977 Alcoholic polyneuropathy semapv:UnspecifiedMatching MONDO:0006645 alcoholic polyneuropathy skos:exactMatch mesh:D020269 semapv:UnspecifiedMatching MONDO:0006646 angioleiomyoma skos:exactMatch DOID:4265 angiomyoma semapv:UnspecifiedMatching MONDO:0006646 angioleiomyoma skos:exactMatch EFO:1000084 semapv:UnspecifiedMatching MONDO:0006646 angioleiomyoma skos:exactMatch MEDGEN:60202 semapv:UnspecifiedMatching MONDO:0006646 angioleiomyoma skos:exactMatch NCIT:C3747 Angioleiomyoma semapv:UnspecifiedMatching MONDO:0006646 angioleiomyoma skos:exactMatch UMLS:C0206653 semapv:UnspecifiedMatching MONDO:0006646 angioleiomyoma skos:exactMatch mesh:D018229 semapv:UnspecifiedMatching MONDO:0006647 anterior cerebral artery infarction skos:exactMatch DOID:3528 anterior cerebral artery infarction semapv:UnspecifiedMatching MONDO:0006647 anterior cerebral artery infarction skos:exactMatch EFO:1000807 semapv:UnspecifiedMatching MONDO:0006647 anterior cerebral artery infarction skos:exactMatch MEDGEN:148402 semapv:UnspecifiedMatching MONDO:0006647 anterior cerebral artery infarction skos:exactMatch UMLS:C0751843 semapv:UnspecifiedMatching MONDO:0006647 anterior cerebral artery infarction skos:exactMatch mesh:D020243 semapv:UnspecifiedMatching MONDO:0006648 anterior compartment of tibia syndrome skos:exactMatch DOID:3933 anterior compartment syndrome semapv:UnspecifiedMatching MONDO:0006648 anterior compartment of tibia syndrome skos:exactMatch MEDGEN:1569 semapv:UnspecifiedMatching MONDO:0006648 anterior compartment of tibia syndrome skos:exactMatch SCTID:12694001 semapv:UnspecifiedMatching MONDO:0006648 anterior compartment of tibia syndrome skos:exactMatch UMLS:C0003152 semapv:UnspecifiedMatching MONDO:0006648 anterior compartment of tibia syndrome skos:exactMatch mesh:D000868 semapv:UnspecifiedMatching MONDO:0006649 anterior ischemic optic neuropathy skos:exactMatch DOID:12010 anterior ischemic optic neuropathy semapv:UnspecifiedMatching MONDO:0006649 anterior ischemic optic neuropathy skos:exactMatch EFO:1000809 semapv:UnspecifiedMatching MONDO:0006649 anterior ischemic optic neuropathy skos:exactMatch MEDGEN:199716 semapv:UnspecifiedMatching MONDO:0006649 anterior ischemic optic neuropathy skos:exactMatch SCTID:404659001 semapv:UnspecifiedMatching MONDO:0006649 anterior ischemic optic neuropathy skos:exactMatch UMLS:C0751711 semapv:UnspecifiedMatching MONDO:0006649 anterior ischemic optic neuropathy skos:exactMatch icd11.foundation:632323575 Anterior ischemic optic neuropathy semapv:UnspecifiedMatching MONDO:0006649 anterior ischemic optic neuropathy skos:exactMatch mesh:D018917 semapv:UnspecifiedMatching MONDO:0006650 anterior spinal artery syndrome skos:exactMatch DOID:6712 anterior spinal artery syndrome semapv:UnspecifiedMatching MONDO:0006650 anterior spinal artery syndrome skos:exactMatch EFO:1000810 semapv:UnspecifiedMatching MONDO:0006650 anterior spinal artery syndrome skos:exactMatch MEDGEN:65125 semapv:UnspecifiedMatching MONDO:0006650 anterior spinal artery syndrome skos:exactMatch SCTID:2972007 semapv:UnspecifiedMatching MONDO:0006650 anterior spinal artery syndrome skos:exactMatch UMLS:C0221069 semapv:UnspecifiedMatching MONDO:0006650 anterior spinal artery syndrome skos:exactMatch mesh:D020759 semapv:UnspecifiedMatching MONDO:0006651 anterior uveitis skos:exactMatch DOID:1407 anterior uveitis semapv:UnspecifiedMatching MONDO:0006651 anterior uveitis skos:exactMatch EFO:1000811 semapv:UnspecifiedMatching MONDO:0006651 anterior uveitis skos:exactMatch MEDGEN:22595 semapv:UnspecifiedMatching MONDO:0006651 anterior uveitis skos:exactMatch NCIT:C35109 Anterior Uveitis semapv:UnspecifiedMatching MONDO:0006651 anterior uveitis skos:exactMatch Orphanet:280886 Anterior uveitis semapv:UnspecifiedMatching MONDO:0006651 anterior uveitis skos:exactMatch SCTID:410692006 semapv:UnspecifiedMatching MONDO:0006651 anterior uveitis skos:exactMatch UMLS:C0042165 semapv:UnspecifiedMatching MONDO:0006651 anterior uveitis skos:exactMatch icd11.foundation:908233081 Anterior uveitis semapv:UnspecifiedMatching MONDO:0006651 anterior uveitis skos:exactMatch mesh:D014606 semapv:UnspecifiedMatching MONDO:0006652 anterolateral myocardial infarction skos:exactMatch DOID:5845 anterolateral myocardial infarction semapv:UnspecifiedMatching MONDO:0006652 anterolateral myocardial infarction skos:exactMatch EFO:1000812 semapv:UnspecifiedMatching MONDO:0006652 anterolateral myocardial infarction skos:exactMatch MEDGEN:78086 semapv:UnspecifiedMatching MONDO:0006652 anterolateral myocardial infarction skos:exactMatch UMLS:C0262564 semapv:UnspecifiedMatching MONDO:0006652 anterolateral myocardial infarction skos:exactMatch icd11.foundation:687792216 Anterolateral myocardial infarction semapv:UnspecifiedMatching MONDO:0006652 anterolateral myocardial infarction skos:exactMatch mesh:D056988 semapv:UnspecifiedMatching MONDO:0006653 anthracosilicosis skos:exactMatch DOID:10324 anthracosilicosis semapv:UnspecifiedMatching MONDO:0006653 anthracosilicosis skos:exactMatch EFO:1000813 semapv:UnspecifiedMatching MONDO:0006653 anthracosilicosis skos:exactMatch MEDGEN:1958 semapv:UnspecifiedMatching MONDO:0006653 anthracosilicosis skos:exactMatch NCIT:C34389 Anthracosilicosis semapv:UnspecifiedMatching MONDO:0006653 anthracosilicosis skos:exactMatch SCTID:33548005 semapv:UnspecifiedMatching MONDO:0006653 anthracosilicosis skos:exactMatch UMLS:C0003164 semapv:UnspecifiedMatching MONDO:0006653 anthracosilicosis skos:exactMatch mesh:D000874 semapv:UnspecifiedMatching MONDO:0006654 anthracosis skos:exactMatch DOID:10327 anthracosis semapv:UnspecifiedMatching MONDO:0006654 anthracosis skos:exactMatch EFO:1000814 semapv:UnspecifiedMatching MONDO:0006654 anthracosis skos:exactMatch ICD10CM:J60 Coalworker's pneumoconiosis semapv:UnspecifiedMatching MONDO:0006654 anthracosis skos:exactMatch MEDGEN:8107 semapv:UnspecifiedMatching MONDO:0006654 anthracosis skos:exactMatch NCIT:C34390 Anthracosis semapv:UnspecifiedMatching MONDO:0006654 anthracosis skos:exactMatch SCTID:29422001 semapv:UnspecifiedMatching MONDO:0006654 anthracosis skos:exactMatch UMLS:C0003165 semapv:UnspecifiedMatching MONDO:0006654 anthracosis skos:exactMatch mesh:D055008 semapv:UnspecifiedMatching MONDO:0006655 aortic valve prolapse skos:exactMatch DOID:5232 aortic valve prolapse semapv:UnspecifiedMatching MONDO:0006655 aortic valve prolapse skos:exactMatch MEDGEN:1619 semapv:UnspecifiedMatching MONDO:0006655 aortic valve prolapse skos:exactMatch UMLS:C0003505 semapv:UnspecifiedMatching MONDO:0006655 aortic valve prolapse skos:exactMatch mesh:D001023 semapv:UnspecifiedMatching MONDO:0006656 aortitis skos:exactMatch DOID:519 aortitis semapv:UnspecifiedMatching MONDO:0006656 aortitis skos:exactMatch EFO:1000816 semapv:UnspecifiedMatching MONDO:0006656 aortitis skos:exactMatch MEDGEN:8154 semapv:UnspecifiedMatching MONDO:0006656 aortitis skos:exactMatch NCIT:C97085 Aortitis semapv:UnspecifiedMatching MONDO:0006656 aortitis skos:exactMatch SCTID:70933002 semapv:UnspecifiedMatching MONDO:0006656 aortitis skos:exactMatch UMLS:C0003509 semapv:UnspecifiedMatching MONDO:0006656 aortitis skos:exactMatch mesh:D001025 semapv:UnspecifiedMatching MONDO:0006658 arteriolosclerosis skos:exactMatch DOID:5162 arteriolosclerosis semapv:UnspecifiedMatching MONDO:0006658 arteriolosclerosis skos:exactMatch EFO:1000819 semapv:UnspecifiedMatching MONDO:0006658 arteriolosclerosis skos:exactMatch MEDGEN:209223 semapv:UnspecifiedMatching MONDO:0006658 arteriolosclerosis skos:exactMatch NCIT:C35543 Arteriolosclerosis semapv:UnspecifiedMatching MONDO:0006658 arteriolosclerosis skos:exactMatch UMLS:C0878486 semapv:UnspecifiedMatching MONDO:0006658 arteriolosclerosis skos:exactMatch mesh:D050379 semapv:UnspecifiedMatching MONDO:0006659 arteriosclerosis obliterans skos:exactMatch DOID:5160 arteriosclerosis obliterans semapv:UnspecifiedMatching MONDO:0006659 arteriosclerosis obliterans skos:exactMatch EFO:1000820 semapv:UnspecifiedMatching MONDO:0006659 arteriosclerosis obliterans skos:exactMatch MEDGEN:13915 semapv:UnspecifiedMatching MONDO:0006659 arteriosclerosis obliterans skos:exactMatch SCTID:361133006 semapv:UnspecifiedMatching MONDO:0006659 arteriosclerosis obliterans skos:exactMatch UMLS:C0003851 semapv:UnspecifiedMatching MONDO:0006659 arteriosclerosis obliterans skos:exactMatch mesh:D001162 semapv:UnspecifiedMatching MONDO:0006660 arthus reaction skos:exactMatch DOID:1556 arthus reaction semapv:UnspecifiedMatching MONDO:0006660 arthus reaction skos:exactMatch EFO:1000821 semapv:UnspecifiedMatching MONDO:0006660 arthus reaction skos:exactMatch MEDGEN:2458 semapv:UnspecifiedMatching MONDO:0006660 arthus reaction skos:exactMatch NCIT:C34400 Arthus Reaction semapv:UnspecifiedMatching MONDO:0006660 arthus reaction skos:exactMatch SCTID:402413008 semapv:UnspecifiedMatching MONDO:0006660 arthus reaction skos:exactMatch UMLS:C0003907 semapv:UnspecifiedMatching MONDO:0006660 arthus reaction skos:exactMatch mesh:D001183 semapv:UnspecifiedMatching MONDO:0006662 aseptic meningitis skos:exactMatch DOID:12157 aseptic meningitis semapv:UnspecifiedMatching MONDO:0006662 aseptic meningitis skos:exactMatch EFO:1000823 semapv:UnspecifiedMatching MONDO:0006662 aseptic meningitis skos:exactMatch ICD10CM:G03.0 Nonpyogenic meningitis semapv:UnspecifiedMatching MONDO:0006662 aseptic meningitis skos:exactMatch MEDGEN:7534 semapv:UnspecifiedMatching MONDO:0006662 aseptic meningitis skos:exactMatch NCIT:C118299 Aseptic Meningitis semapv:UnspecifiedMatching MONDO:0006662 aseptic meningitis skos:exactMatch SCTID:301770000 semapv:UnspecifiedMatching MONDO:0006662 aseptic meningitis skos:exactMatch UMLS:C0025290 semapv:UnspecifiedMatching MONDO:0006662 aseptic meningitis skos:exactMatch icd11.foundation:453360366 Aseptic meningitis semapv:UnspecifiedMatching MONDO:0006662 aseptic meningitis skos:exactMatch mesh:D008582 semapv:UnspecifiedMatching MONDO:0006663 perinatal asphyxia skos:exactMatch DOID:11088 asphyxia neonatorum semapv:UnspecifiedMatching MONDO:0006663 perinatal asphyxia skos:exactMatch EFO:1000824 semapv:UnspecifiedMatching MONDO:0006663 perinatal asphyxia skos:exactMatch MEDGEN:2469 semapv:UnspecifiedMatching MONDO:0006663 perinatal asphyxia skos:exactMatch NCIT:C116313 Perinatal Depression semapv:UnspecifiedMatching MONDO:0006663 perinatal asphyxia skos:exactMatch Orphanet:137577 Neonatal hypoxic and ischemic brain injury semapv:UnspecifiedMatching MONDO:0006663 perinatal asphyxia skos:exactMatch SCTID:28314004 semapv:UnspecifiedMatching MONDO:0006663 perinatal asphyxia skos:exactMatch UMLS:C0004045 semapv:UnspecifiedMatching MONDO:0006663 perinatal asphyxia skos:exactMatch icd11.foundation:1281282034 Hypoxic ischaemic encephalopathy of newborn semapv:UnspecifiedMatching MONDO:0006663 perinatal asphyxia skos:exactMatch mesh:D001238 semapv:UnspecifiedMatching MONDO:0006664 atrial septal defect skos:exactMatch DOID:1882 atrial heart septal defect semapv:UnspecifiedMatching MONDO:0006664 atrial septal defect skos:exactMatch EFO:1000825 semapv:UnspecifiedMatching MONDO:0006664 atrial septal defect skos:exactMatch ICD10CM:Q21.1 Atrial septal defect semapv:UnspecifiedMatching MONDO:0006664 atrial septal defect skos:exactMatch MEDGEN:6753 semapv:UnspecifiedMatching MONDO:0006664 atrial septal defect skos:exactMatch NCIT:C84473 Atrial Septal Defect semapv:UnspecifiedMatching MONDO:0006664 atrial septal defect skos:exactMatch OMIMPS:108800 Atrial septal defect semapv:UnspecifiedMatching MONDO:0006664 atrial septal defect skos:exactMatch Orphanet:1478 Interatrial communication semapv:UnspecifiedMatching MONDO:0006664 atrial septal defect skos:exactMatch SCTID:253366007 semapv:UnspecifiedMatching MONDO:0006664 atrial septal defect skos:exactMatch UMLS:C0018817 semapv:UnspecifiedMatching MONDO:0006664 atrial septal defect skos:exactMatch icd11.foundation:1285985084 Interatrial communication semapv:UnspecifiedMatching MONDO:0006664 atrial septal defect skos:exactMatch mesh:D006344 semapv:UnspecifiedMatching MONDO:0006665 chronic atrophic gastritis skos:exactMatch DOID:8929 atrophic gastritis semapv:UnspecifiedMatching MONDO:0006665 chronic atrophic gastritis skos:exactMatch EFO:1000826 semapv:UnspecifiedMatching MONDO:0006665 chronic atrophic gastritis skos:exactMatch ICD10CM:K29.4 Chronic atrophic gastritis semapv:UnspecifiedMatching MONDO:0006665 chronic atrophic gastritis skos:exactMatch MEDGEN:42157 semapv:UnspecifiedMatching MONDO:0006665 chronic atrophic gastritis skos:exactMatch NCIT:C7405 Chronic Atrophic Gastritis semapv:UnspecifiedMatching MONDO:0006665 chronic atrophic gastritis skos:exactMatch SCTID:84568007 semapv:UnspecifiedMatching MONDO:0006665 chronic atrophic gastritis skos:exactMatch UMLS:C0017154 semapv:UnspecifiedMatching MONDO:0006665 chronic atrophic gastritis skos:exactMatch mesh:D005757 semapv:UnspecifiedMatching MONDO:0006666 atrophy of thyroid skos:exactMatch EFO:1000827 semapv:UnspecifiedMatching MONDO:0006666 atrophy of thyroid skos:exactMatch MEDGEN:453383 semapv:UnspecifiedMatching MONDO:0006666 atrophy of thyroid skos:exactMatch NCIT:C26942 Thyroid Gland Atrophy semapv:UnspecifiedMatching MONDO:0006666 atrophy of thyroid skos:exactMatch SCTID:190309006 semapv:UnspecifiedMatching MONDO:0006666 atrophy of thyroid skos:exactMatch UMLS:C2981141 semapv:UnspecifiedMatching MONDO:0006666 atrophy of thyroid skos:exactMatch icd11.foundation:1827568994 Atrophy of thyroid semapv:UnspecifiedMatching MONDO:0006668 bacterial conjunctivitis skos:exactMatch DOID:9700 bacterial conjunctivitis semapv:UnspecifiedMatching MONDO:0006668 bacterial conjunctivitis skos:exactMatch EFO:1000829 semapv:UnspecifiedMatching MONDO:0006668 bacterial conjunctivitis skos:exactMatch MEDGEN:3209 semapv:UnspecifiedMatching MONDO:0006668 bacterial conjunctivitis skos:exactMatch NCIT:C53656 Bacterial Conjunctivitis semapv:UnspecifiedMatching MONDO:0006668 bacterial conjunctivitis skos:exactMatch SCTID:243321006 semapv:UnspecifiedMatching MONDO:0006668 bacterial conjunctivitis skos:exactMatch UMLS:C0009768 semapv:UnspecifiedMatching MONDO:0006668 bacterial conjunctivitis skos:exactMatch icd11.foundation:902481358 Bacterial Conjunctivitis semapv:UnspecifiedMatching MONDO:0006668 bacterial conjunctivitis skos:exactMatch mesh:D003234 semapv:UnspecifiedMatching MONDO:0006669 bacterial endocarditis skos:exactMatch EFO:1000830 semapv:UnspecifiedMatching MONDO:0006669 bacterial endocarditis skos:exactMatch MEDGEN:41779 semapv:UnspecifiedMatching MONDO:0006669 bacterial endocarditis skos:exactMatch NCIT:C128359 Bacterial Endocarditis semapv:UnspecifiedMatching MONDO:0006669 bacterial endocarditis skos:exactMatch SCTID:301183007 semapv:UnspecifiedMatching MONDO:0006669 bacterial endocarditis skos:exactMatch UMLS:C0014121 semapv:UnspecifiedMatching MONDO:0006669 bacterial endocarditis skos:exactMatch icd11.foundation:1924438986 Bacterial endocarditis semapv:UnspecifiedMatching MONDO:0006669 bacterial endocarditis skos:exactMatch mesh:D004697 semapv:UnspecifiedMatching MONDO:0006670 bacterial meningitis skos:exactMatch DOID:9470 bacterial meningitis semapv:UnspecifiedMatching MONDO:0006670 bacterial meningitis skos:exactMatch EFO:1000831 semapv:UnspecifiedMatching MONDO:0006670 bacterial meningitis skos:exactMatch MEDGEN:39048 semapv:UnspecifiedMatching MONDO:0006670 bacterial meningitis skos:exactMatch NCIT:C118297 Bacterial Meningitis semapv:UnspecifiedMatching MONDO:0006670 bacterial meningitis skos:exactMatch SCTID:95883001 semapv:UnspecifiedMatching MONDO:0006670 bacterial meningitis skos:exactMatch UMLS:C0085437 semapv:UnspecifiedMatching MONDO:0006670 bacterial meningitis skos:exactMatch icd11.foundation:684930313 Bacterial meningitis semapv:UnspecifiedMatching MONDO:0006670 bacterial meningitis skos:exactMatch mesh:D016920 semapv:UnspecifiedMatching MONDO:0006671 Bacteroides infectious disease skos:exactMatch EFO:1000832 semapv:UnspecifiedMatching MONDO:0006671 Bacteroides infectious disease skos:exactMatch MEDGEN:2164 semapv:UnspecifiedMatching MONDO:0006671 Bacteroides infectious disease skos:exactMatch SCTID:2918000 semapv:UnspecifiedMatching MONDO:0006671 Bacteroides infectious disease skos:exactMatch UMLS:C0004669 semapv:UnspecifiedMatching MONDO:0006671 Bacteroides infectious disease skos:exactMatch mesh:D001442 semapv:UnspecifiedMatching MONDO:0006672 balanitis skos:exactMatch DOID:13033 balanitis semapv:UnspecifiedMatching MONDO:0006672 balanitis skos:exactMatch EFO:1000833 semapv:UnspecifiedMatching MONDO:0006672 balanitis skos:exactMatch ICD10CM:N48.1 Balanitis semapv:UnspecifiedMatching MONDO:0006672 balanitis skos:exactMatch ICD10WHO:N48.1 Balanoposthitis semapv:UnspecifiedMatching MONDO:0006672 balanitis skos:exactMatch MEDGEN:14020 semapv:UnspecifiedMatching MONDO:0006672 balanitis skos:exactMatch NCIT:C26705 Balanitis semapv:UnspecifiedMatching MONDO:0006672 balanitis skos:exactMatch SCTID:44882003 semapv:UnspecifiedMatching MONDO:0006672 balanitis skos:exactMatch UMLS:C0004690 semapv:UnspecifiedMatching MONDO:0006672 balanitis skos:exactMatch mesh:D001446 semapv:UnspecifiedMatching MONDO:0006673 pituitary gland basophil adenoma skos:exactMatch DOID:4542 basophil adenoma semapv:UnspecifiedMatching MONDO:0006673 pituitary gland basophil adenoma skos:exactMatch EFO:1000834 semapv:UnspecifiedMatching MONDO:0006673 pituitary gland basophil adenoma skos:exactMatch MEDGEN:1746 semapv:UnspecifiedMatching MONDO:0006673 pituitary gland basophil adenoma skos:exactMatch NCIT:C2856 Pituitary Gland Basophil Adenoma semapv:UnspecifiedMatching MONDO:0006673 pituitary gland basophil adenoma skos:exactMatch UMLS:C0001431 semapv:UnspecifiedMatching MONDO:0006673 pituitary gland basophil adenoma skos:exactMatch mesh:D000237 semapv:UnspecifiedMatching MONDO:0006674 obsolete benign fibrous mesothelioma skos:exactMatch DOID:2653 benign fibrous mesothelioma semapv:UnspecifiedMatching MONDO:0006674 obsolete benign fibrous mesothelioma skos:exactMatch mesh:D054363 semapv:UnspecifiedMatching MONDO:0006676 beriberi skos:exactMatch DOID:0070313 thiamine deficiency disease semapv:UnspecifiedMatching MONDO:0006676 beriberi skos:exactMatch DOID:13725 beriberi semapv:UnspecifiedMatching MONDO:0006676 beriberi skos:exactMatch EFO:1000837 semapv:UnspecifiedMatching MONDO:0006676 beriberi skos:exactMatch ICD10CM:E51.1 Beriberi semapv:UnspecifiedMatching MONDO:0006676 beriberi skos:exactMatch MEDGEN:543 semapv:UnspecifiedMatching MONDO:0006676 beriberi skos:exactMatch NCIT:C34418 Vitamin B1 Deficiency semapv:UnspecifiedMatching MONDO:0006676 beriberi skos:exactMatch SCTID:36656008 semapv:UnspecifiedMatching MONDO:0006676 beriberi skos:exactMatch UMLS:C0005122 semapv:UnspecifiedMatching MONDO:0006676 beriberi skos:exactMatch icd11.foundation:632832064 Beriberi semapv:UnspecifiedMatching MONDO:0006676 beriberi skos:exactMatch mesh:D001602 semapv:UnspecifiedMatching MONDO:0006677 bile reflux skos:exactMatch DOID:12237 bile reflux semapv:UnspecifiedMatching MONDO:0006677 bile reflux skos:exactMatch EFO:1000838 semapv:UnspecifiedMatching MONDO:0006677 bile reflux skos:exactMatch MEDGEN:2243 semapv:UnspecifiedMatching MONDO:0006677 bile reflux skos:exactMatch UMLS:C0005403 semapv:UnspecifiedMatching MONDO:0006677 bile reflux skos:exactMatch mesh:D001655 semapv:UnspecifiedMatching MONDO:0006678 bladder calculus skos:exactMatch DOID:11355 bladder calculus semapv:UnspecifiedMatching MONDO:0006678 bladder calculus skos:exactMatch EFO:1000839 semapv:UnspecifiedMatching MONDO:0006678 bladder calculus skos:exactMatch MEDGEN:14149 semapv:UnspecifiedMatching MONDO:0006678 bladder calculus skos:exactMatch SCTID:70650003 semapv:UnspecifiedMatching MONDO:0006678 bladder calculus skos:exactMatch UMLS:C0005683 semapv:UnspecifiedMatching MONDO:0006678 bladder calculus skos:exactMatch mesh:D001744 semapv:UnspecifiedMatching MONDO:0006679 bladder neck obstruction skos:exactMatch DOID:13948 bladder neck obstruction semapv:UnspecifiedMatching MONDO:0006679 bladder neck obstruction skos:exactMatch EFO:1000840 semapv:UnspecifiedMatching MONDO:0006679 bladder neck obstruction skos:exactMatch ICD10CM:N32.0 Bladder-neck obstruction semapv:UnspecifiedMatching MONDO:0006679 bladder neck obstruction skos:exactMatch MEDGEN:14151 semapv:UnspecifiedMatching MONDO:0006679 bladder neck obstruction skos:exactMatch SCTID:399072004 semapv:UnspecifiedMatching MONDO:0006679 bladder neck obstruction skos:exactMatch UMLS:C0005694 semapv:UnspecifiedMatching MONDO:0006679 bladder neck obstruction skos:exactMatch icd11.foundation:441939472 Bladder neck obstruction semapv:UnspecifiedMatching MONDO:0006679 bladder neck obstruction skos:exactMatch mesh:D001748 semapv:UnspecifiedMatching MONDO:0006680 blue nevus skos:exactMatch EFO:1000841 semapv:UnspecifiedMatching MONDO:0006680 blue nevus skos:exactMatch MEDGEN:104930 semapv:UnspecifiedMatching MONDO:0006680 blue nevus skos:exactMatch NCIT:C3803 Blue Nevus semapv:UnspecifiedMatching MONDO:0006680 blue nevus skos:exactMatch SCTID:254806009 semapv:UnspecifiedMatching MONDO:0006680 blue nevus skos:exactMatch UMLS:C0206736 semapv:UnspecifiedMatching MONDO:0006680 blue nevus skos:exactMatch mesh:D018329 semapv:UnspecifiedMatching MONDO:0006681 Borrelia infectious disease skos:exactMatch EFO:1000842 semapv:UnspecifiedMatching MONDO:0006681 Borrelia infectious disease skos:exactMatch MEDGEN:2325 semapv:UnspecifiedMatching MONDO:0006681 Borrelia infectious disease skos:exactMatch UMLS:C0006035 semapv:UnspecifiedMatching MONDO:0006681 Borrelia infectious disease skos:exactMatch mesh:D001899 semapv:UnspecifiedMatching MONDO:0006682 brachial plexus neuritis skos:exactMatch DOID:3689 brachial plexus neuritis semapv:UnspecifiedMatching MONDO:0006682 brachial plexus neuritis skos:exactMatch EFO:1000843 semapv:UnspecifiedMatching MONDO:0006682 brachial plexus neuritis skos:exactMatch MEDGEN:113170 semapv:UnspecifiedMatching MONDO:0006682 brachial plexus neuritis skos:exactMatch NCIT:C84600 Brachial Plexus Neuritis semapv:UnspecifiedMatching MONDO:0006682 brachial plexus neuritis skos:exactMatch SCTID:72893007 semapv:UnspecifiedMatching MONDO:0006682 brachial plexus neuritis skos:exactMatch UMLS:C0221759 semapv:UnspecifiedMatching MONDO:0006682 brachial plexus neuritis skos:exactMatch mesh:D020968 semapv:UnspecifiedMatching MONDO:0006683 brachial plexus neuropathy skos:exactMatch DOID:3690 brachial plexus neuropathy semapv:UnspecifiedMatching MONDO:0006683 brachial plexus neuropathy skos:exactMatch EFO:1000844 semapv:UnspecifiedMatching MONDO:0006683 brachial plexus neuropathy skos:exactMatch MEDGEN:148580 semapv:UnspecifiedMatching MONDO:0006683 brachial plexus neuropathy skos:exactMatch NCIT:C27194 Brachial Plexopathy semapv:UnspecifiedMatching MONDO:0006683 brachial plexus neuropathy skos:exactMatch SCTID:3548001 semapv:UnspecifiedMatching MONDO:0006683 brachial plexus neuropathy skos:exactMatch UMLS:C0700251 semapv:UnspecifiedMatching MONDO:0006683 brachial plexus neuropathy skos:exactMatch mesh:D020516 semapv:UnspecifiedMatching MONDO:0006684 brain edema skos:exactMatch DOID:4724 brain edema semapv:UnspecifiedMatching MONDO:0006684 brain edema skos:exactMatch EFO:1000845 semapv:UnspecifiedMatching MONDO:0006684 brain edema skos:exactMatch MEDGEN:2337 semapv:UnspecifiedMatching MONDO:0006684 brain edema skos:exactMatch SCTID:2032001 semapv:UnspecifiedMatching MONDO:0006684 brain edema skos:exactMatch UMLS:C0006114 semapv:UnspecifiedMatching MONDO:0006684 brain edema skos:exactMatch mesh:D001929 semapv:UnspecifiedMatching MONDO:0006685 brain hypoxia - ischemia skos:exactMatch MEDGEN:199862 semapv:UnspecifiedMatching MONDO:0006685 brain hypoxia - ischemia skos:exactMatch UMLS:C0752308 semapv:UnspecifiedMatching MONDO:0006685 brain hypoxia - ischemia skos:exactMatch mesh:D020925 semapv:UnspecifiedMatching MONDO:0006686 brain stem infarction skos:exactMatch DOID:3523 brain stem infarction semapv:UnspecifiedMatching MONDO:0006686 brain stem infarction skos:exactMatch EFO:1000847 semapv:UnspecifiedMatching MONDO:0006686 brain stem infarction skos:exactMatch MEDGEN:101068 semapv:UnspecifiedMatching MONDO:0006686 brain stem infarction skos:exactMatch SCTID:95457000 semapv:UnspecifiedMatching MONDO:0006686 brain stem infarction skos:exactMatch UMLS:C0521542 semapv:UnspecifiedMatching MONDO:0006686 brain stem infarction skos:exactMatch mesh:D020526 semapv:UnspecifiedMatching MONDO:0006687 burning mouth syndrome skos:exactMatch DOID:4331 burning mouth syndrome semapv:UnspecifiedMatching MONDO:0006687 burning mouth syndrome skos:exactMatch EFO:1000850 semapv:UnspecifiedMatching MONDO:0006687 burning mouth syndrome skos:exactMatch MEDGEN:14254 semapv:UnspecifiedMatching MONDO:0006687 burning mouth syndrome skos:exactMatch NCIT:C62545 Burning Mouth Syndrome semapv:UnspecifiedMatching MONDO:0006687 burning mouth syndrome skos:exactMatch Orphanet:353253 Burning mouth syndrome semapv:UnspecifiedMatching MONDO:0006687 burning mouth syndrome skos:exactMatch SCTID:399165002 semapv:UnspecifiedMatching MONDO:0006687 burning mouth syndrome skos:exactMatch UMLS:C0006430 semapv:UnspecifiedMatching MONDO:0006687 burning mouth syndrome skos:exactMatch icd11.foundation:618998878 Burning mouth syndrome semapv:UnspecifiedMatching MONDO:0006687 burning mouth syndrome skos:exactMatch mesh:D002054 semapv:UnspecifiedMatching MONDO:0006688 byssinosis skos:exactMatch DOID:10323 byssinosis semapv:UnspecifiedMatching MONDO:0006688 byssinosis skos:exactMatch EFO:1000851 semapv:UnspecifiedMatching MONDO:0006688 byssinosis skos:exactMatch ICD10CM:J66.0 Byssinosis semapv:UnspecifiedMatching MONDO:0006688 byssinosis skos:exactMatch MEDGEN:2769 semapv:UnspecifiedMatching MONDO:0006688 byssinosis skos:exactMatch NCIT:C84605 Byssinosis semapv:UnspecifiedMatching MONDO:0006688 byssinosis skos:exactMatch SCTID:13151001 semapv:UnspecifiedMatching MONDO:0006688 byssinosis skos:exactMatch UMLS:C0006542 semapv:UnspecifiedMatching MONDO:0006688 byssinosis skos:exactMatch mesh:D002095 semapv:UnspecifiedMatching MONDO:0006690 carotid artery thrombosis skos:exactMatch DOID:3410 carotid artery thrombosis semapv:UnspecifiedMatching MONDO:0006690 carotid artery thrombosis skos:exactMatch EFO:1000853 semapv:UnspecifiedMatching MONDO:0006690 carotid artery thrombosis skos:exactMatch MEDGEN:40119 semapv:UnspecifiedMatching MONDO:0006690 carotid artery thrombosis skos:exactMatch SCTID:86003009 semapv:UnspecifiedMatching MONDO:0006690 carotid artery thrombosis skos:exactMatch UMLS:C0007274 semapv:UnspecifiedMatching MONDO:0006690 carotid artery thrombosis skos:exactMatch mesh:D002341 semapv:UnspecifiedMatching MONDO:0006692 central pontine myelinolysis skos:exactMatch DOID:636 central pontine myelinolysis semapv:UnspecifiedMatching MONDO:0006692 central pontine myelinolysis skos:exactMatch EFO:1000857 semapv:UnspecifiedMatching MONDO:0006692 central pontine myelinolysis skos:exactMatch ICD10CM:G37.2 Central pontine myelinolysis semapv:UnspecifiedMatching MONDO:0006692 central pontine myelinolysis skos:exactMatch MEDGEN:64511 semapv:UnspecifiedMatching MONDO:0006692 central pontine myelinolysis skos:exactMatch NCIT:C84623 Central Pontine Myelinolysis semapv:UnspecifiedMatching MONDO:0006692 central pontine myelinolysis skos:exactMatch SCTID:6807001 semapv:UnspecifiedMatching MONDO:0006692 central pontine myelinolysis skos:exactMatch UMLS:C0206083 semapv:UnspecifiedMatching MONDO:0006692 central pontine myelinolysis skos:exactMatch icd11.foundation:558060012 Central pontine myelinolysis semapv:UnspecifiedMatching MONDO:0006692 central pontine myelinolysis skos:exactMatch mesh:D017590 semapv:UnspecifiedMatching MONDO:0006693 cerebral arterial disease skos:exactMatch DOID:3527 cerebral arterial disease semapv:UnspecifiedMatching MONDO:0006693 cerebral arterial disease skos:exactMatch EFO:1000859 semapv:UnspecifiedMatching MONDO:0006693 cerebral arterial disease skos:exactMatch MEDGEN:2963 semapv:UnspecifiedMatching MONDO:0006693 cerebral arterial disease skos:exactMatch UMLS:C0007774 semapv:UnspecifiedMatching MONDO:0006693 cerebral arterial disease skos:exactMatch mesh:D002539 semapv:UnspecifiedMatching MONDO:0006694 cerebral atherosclerosis skos:exactMatch DOID:12720 cerebral atherosclerosis semapv:UnspecifiedMatching MONDO:0006694 cerebral atherosclerosis skos:exactMatch EFO:1000860 semapv:UnspecifiedMatching MONDO:0006694 cerebral atherosclerosis skos:exactMatch ICD10CM:I67.2 Cerebral atherosclerosis semapv:UnspecifiedMatching MONDO:0006694 cerebral atherosclerosis skos:exactMatch MEDGEN:40189 semapv:UnspecifiedMatching MONDO:0006694 cerebral atherosclerosis skos:exactMatch NCIT:C34459 Cerebral Atherosclerosis semapv:UnspecifiedMatching MONDO:0006694 cerebral atherosclerosis skos:exactMatch SCTID:55382008 semapv:UnspecifiedMatching MONDO:0006694 cerebral atherosclerosis skos:exactMatch UMLS:C0007775 semapv:UnspecifiedMatching MONDO:0006694 cerebral atherosclerosis skos:exactMatch icd11.foundation:1710003414 Cerebral atherosclerosis semapv:UnspecifiedMatching MONDO:0006696 cervix erosion skos:exactMatch DOID:3456 cervix erosion semapv:UnspecifiedMatching MONDO:0006696 cervix erosion skos:exactMatch MEDGEN:541802 semapv:UnspecifiedMatching MONDO:0006696 cervix erosion skos:exactMatch SCTID:61253004 semapv:UnspecifiedMatching MONDO:0006696 cervix erosion skos:exactMatch UMLS:C0269189 semapv:UnspecifiedMatching MONDO:0006696 cervix erosion skos:exactMatch mesh:D002579 semapv:UnspecifiedMatching MONDO:0006698 cholecystolithiasis skos:exactMatch DOID:11151 cholecystolithiasis semapv:UnspecifiedMatching MONDO:0006698 cholecystolithiasis skos:exactMatch EFO:1000864 semapv:UnspecifiedMatching MONDO:0006698 cholecystolithiasis skos:exactMatch MEDGEN:215268 semapv:UnspecifiedMatching MONDO:0006698 cholecystolithiasis skos:exactMatch UMLS:C0947622 semapv:UnspecifiedMatching MONDO:0006698 cholecystolithiasis skos:exactMatch mesh:D041761 semapv:UnspecifiedMatching MONDO:0006699 choledocholithiasis skos:exactMatch DOID:11755 choledocholithiasis semapv:UnspecifiedMatching MONDO:0006699 choledocholithiasis skos:exactMatch EFO:1000865 semapv:UnspecifiedMatching MONDO:0006699 choledocholithiasis skos:exactMatch MEDGEN:148784 semapv:UnspecifiedMatching MONDO:0006699 choledocholithiasis skos:exactMatch UMLS:C0701818 semapv:UnspecifiedMatching MONDO:0006699 choledocholithiasis skos:exactMatch mesh:D042883 semapv:UnspecifiedMatching MONDO:0006700 choroid cancer skos:exactMatch DOID:12759 choroid cancer semapv:UnspecifiedMatching MONDO:0006700 choroid cancer skos:exactMatch ICD10CM:C69.3 Malignant neoplasm of choroid semapv:UnspecifiedMatching MONDO:0006700 choroid cancer skos:exactMatch MEDGEN:57794 semapv:UnspecifiedMatching MONDO:0006700 choroid cancer skos:exactMatch NCIT:C3566 Malignant Choroid Neoplasm semapv:UnspecifiedMatching MONDO:0006700 choroid cancer skos:exactMatch SCTID:363466008 semapv:UnspecifiedMatching MONDO:0006700 choroid cancer skos:exactMatch UMLS:C0153630 semapv:UnspecifiedMatching MONDO:0006700 choroid cancer skos:exactMatch mesh:D002830 semapv:UnspecifiedMatching MONDO:0006701 chromophobe adenoma skos:exactMatch DOID:3828 chromophobe adenoma semapv:UnspecifiedMatching MONDO:0006701 chromophobe adenoma skos:exactMatch EFO:1000867 semapv:UnspecifiedMatching MONDO:0006701 chromophobe adenoma skos:exactMatch MEDGEN:1747 semapv:UnspecifiedMatching MONDO:0006701 chromophobe adenoma skos:exactMatch NCIT:C2857 Pituitary Gland Chromophobe Adenoma semapv:UnspecifiedMatching MONDO:0006701 chromophobe adenoma skos:exactMatch UMLS:C0001432 semapv:UnspecifiedMatching MONDO:0006701 chromophobe adenoma skos:exactMatch mesh:D000238 semapv:UnspecifiedMatching MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy skos:exactMatch DOID:5213 chronic inflammatory demyelinating polyradiculoneuropathy semapv:UnspecifiedMatching MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy skos:exactMatch EFO:1000868 semapv:UnspecifiedMatching MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy skos:exactMatch ICD10CM:G61.81 Chronic inflammatory demyelinating polyneuritis semapv:UnspecifiedMatching MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy skos:exactMatch MEDGEN:98292 semapv:UnspecifiedMatching MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy skos:exactMatch NCIT:C84636 Chronic Inflammatory Demyelinating Polyneuropathy semapv:UnspecifiedMatching MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy skos:exactMatch Orphanet:2932 Chronic inflammatory demyelinating polyneuropathy semapv:UnspecifiedMatching MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy skos:exactMatch SCTID:128209004 semapv:UnspecifiedMatching MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy skos:exactMatch UMLS:C0393819 semapv:UnspecifiedMatching MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy skos:exactMatch icd11.foundation:224318510 Chronic inflammatory demyelinating polyneuropathy semapv:UnspecifiedMatching MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy skos:exactMatch mesh:D020277 semapv:UnspecifiedMatching MONDO:0006704 CNS demyelinating autoimmune disease skos:exactMatch EFO:1000870 semapv:UnspecifiedMatching MONDO:0006704 CNS demyelinating autoimmune disease skos:exactMatch MEDGEN:199756 semapv:UnspecifiedMatching MONDO:0006704 CNS demyelinating autoimmune disease skos:exactMatch UMLS:C0751873 semapv:UnspecifiedMatching MONDO:0006704 CNS demyelinating autoimmune disease skos:exactMatch mesh:D020278 semapv:UnspecifiedMatching MONDO:0006705 Bacteroidaceae infectious disease skos:exactMatch MEDGEN:39037 semapv:UnspecifiedMatching MONDO:0006705 Bacteroidaceae infectious disease skos:exactMatch UMLS:C0085392 semapv:UnspecifiedMatching MONDO:0006705 Bacteroidaceae infectious disease skos:exactMatch mesh:D016866 semapv:UnspecifiedMatching MONDO:0006706 Bifidobacteriales infectious disease skos:exactMatch MEDGEN:209748 semapv:UnspecifiedMatching MONDO:0006706 Bifidobacteriales infectious disease skos:exactMatch UMLS:C1136339 semapv:UnspecifiedMatching MONDO:0006706 Bifidobacteriales infectious disease skos:exactMatch mesh:D039941 semapv:UnspecifiedMatching MONDO:0006708 Desulfovibrionaceae infectious disease skos:exactMatch mesh:D045824 semapv:UnspecifiedMatching MONDO:0006709 common bile duct neoplasm skos:exactMatch DOID:4608 common bile duct neoplasm semapv:UnspecifiedMatching MONDO:0006709 common bile duct neoplasm skos:exactMatch MEDGEN:3178 semapv:UnspecifiedMatching MONDO:0006709 common bile duct neoplasm skos:exactMatch SCTID:126857009 semapv:UnspecifiedMatching MONDO:0006709 common bile duct neoplasm skos:exactMatch UMLS:C0009442 semapv:UnspecifiedMatching MONDO:0006709 common bile duct neoplasm skos:exactMatch mesh:D003138 semapv:UnspecifiedMatching MONDO:0006710 complex partial epilepsy skos:exactMatch DOID:12382 complex partial epilepsy semapv:UnspecifiedMatching MONDO:0006710 complex partial epilepsy skos:exactMatch EFO:1000877 semapv:UnspecifiedMatching MONDO:0006710 complex partial epilepsy skos:exactMatch MEDGEN:43169 semapv:UnspecifiedMatching MONDO:0006710 complex partial epilepsy skos:exactMatch SCTID:407675009 semapv:UnspecifiedMatching MONDO:0006710 complex partial epilepsy skos:exactMatch UMLS:C0085417 semapv:UnspecifiedMatching MONDO:0006710 complex partial epilepsy skos:exactMatch mesh:D017029 semapv:UnspecifiedMatching MONDO:0006711 constrictive pericarditis skos:exactMatch DOID:11481 constrictive pericarditis semapv:UnspecifiedMatching MONDO:0006711 constrictive pericarditis skos:exactMatch EFO:1000878 semapv:UnspecifiedMatching MONDO:0006711 constrictive pericarditis skos:exactMatch MEDGEN:18378 semapv:UnspecifiedMatching MONDO:0006711 constrictive pericarditis skos:exactMatch NCIT:C78246 Constrictive Pericarditis semapv:UnspecifiedMatching MONDO:0006711 constrictive pericarditis skos:exactMatch SCTID:85598007 semapv:UnspecifiedMatching MONDO:0006711 constrictive pericarditis skos:exactMatch UMLS:C0031048 semapv:UnspecifiedMatching MONDO:0006711 constrictive pericarditis skos:exactMatch icd11.foundation:1722995229 Constrictive pericarditis semapv:UnspecifiedMatching MONDO:0006711 constrictive pericarditis skos:exactMatch mesh:D010494 semapv:UnspecifiedMatching MONDO:0006712 corneal edema skos:exactMatch DOID:11030 corneal edema semapv:UnspecifiedMatching MONDO:0006712 corneal edema skos:exactMatch EFO:1000879 semapv:UnspecifiedMatching MONDO:0006712 corneal edema skos:exactMatch MEDGEN:3242 semapv:UnspecifiedMatching MONDO:0006712 corneal edema skos:exactMatch SCTID:27194006 semapv:UnspecifiedMatching MONDO:0006712 corneal edema skos:exactMatch UMLS:C0010037 semapv:UnspecifiedMatching MONDO:0006712 corneal edema skos:exactMatch mesh:D015715 semapv:UnspecifiedMatching MONDO:0006713 corneal neovascularization skos:exactMatch DOID:11382 corneal neovascularization semapv:UnspecifiedMatching MONDO:0006713 corneal neovascularization skos:exactMatch EFO:1000880 semapv:UnspecifiedMatching MONDO:0006713 corneal neovascularization skos:exactMatch ICD10CM:H16.4 Corneal neovascularization semapv:UnspecifiedMatching MONDO:0006713 corneal neovascularization skos:exactMatch MEDGEN:43103 semapv:UnspecifiedMatching MONDO:0006713 corneal neovascularization skos:exactMatch SCTID:19161004 semapv:UnspecifiedMatching MONDO:0006713 corneal neovascularization skos:exactMatch UMLS:C0085109 semapv:UnspecifiedMatching MONDO:0006713 corneal neovascularization skos:exactMatch icd11.foundation:2077068570 Corneal neovascularization semapv:UnspecifiedMatching MONDO:0006713 corneal neovascularization skos:exactMatch mesh:D016510 semapv:UnspecifiedMatching MONDO:0006714 coronary aneurysm skos:exactMatch DOID:3362 coronary aneurysm semapv:UnspecifiedMatching MONDO:0006714 coronary aneurysm skos:exactMatch EFO:1000881 semapv:UnspecifiedMatching MONDO:0006714 coronary aneurysm skos:exactMatch MEDGEN:3622 semapv:UnspecifiedMatching MONDO:0006714 coronary aneurysm skos:exactMatch SCTID:50570003 semapv:UnspecifiedMatching MONDO:0006714 coronary aneurysm skos:exactMatch UMLS:C0010051 semapv:UnspecifiedMatching MONDO:0006714 coronary aneurysm skos:exactMatch icd11.foundation:777924269 Coronary artery aneurysm semapv:UnspecifiedMatching MONDO:0006714 coronary aneurysm skos:exactMatch mesh:D003323 semapv:UnspecifiedMatching MONDO:0006715 coronary stenosis skos:exactMatch DOID:4248 coronary stenosis semapv:UnspecifiedMatching MONDO:0006715 coronary stenosis skos:exactMatch MEDGEN:66859 semapv:UnspecifiedMatching MONDO:0006715 coronary stenosis skos:exactMatch SCTID:233970002 semapv:UnspecifiedMatching MONDO:0006715 coronary stenosis skos:exactMatch UMLS:C0242231 semapv:UnspecifiedMatching MONDO:0006715 coronary stenosis skos:exactMatch mesh:D023921 semapv:UnspecifiedMatching MONDO:0006716 coronary thrombosis skos:exactMatch DOID:11847 coronary thrombosis semapv:UnspecifiedMatching MONDO:0006716 coronary thrombosis skos:exactMatch EFO:1000883 semapv:UnspecifiedMatching MONDO:0006716 coronary thrombosis skos:exactMatch MEDGEN:3625 semapv:UnspecifiedMatching MONDO:0006716 coronary thrombosis skos:exactMatch SCTID:398274000 semapv:UnspecifiedMatching MONDO:0006716 coronary thrombosis skos:exactMatch UMLS:C0010072 semapv:UnspecifiedMatching MONDO:0006716 coronary thrombosis skos:exactMatch mesh:D003328 semapv:UnspecifiedMatching MONDO:0006717 cutaneous fibrous histiocytoma skos:exactMatch DOID:4418 cutaneous fibrous histiocytoma semapv:UnspecifiedMatching MONDO:0006717 cutaneous fibrous histiocytoma skos:exactMatch EFO:1000885 semapv:UnspecifiedMatching MONDO:0006717 cutaneous fibrous histiocytoma skos:exactMatch MEDGEN:1930 semapv:UnspecifiedMatching MONDO:0006717 cutaneous fibrous histiocytoma skos:exactMatch NCIT:C6801 Skin Fibrous Histiocytoma semapv:UnspecifiedMatching MONDO:0006717 cutaneous fibrous histiocytoma skos:exactMatch SCTID:448015002 semapv:UnspecifiedMatching MONDO:0006717 cutaneous fibrous histiocytoma skos:exactMatch UMLS:C0002991 semapv:UnspecifiedMatching MONDO:0006718 cutaneous syphilis skos:exactMatch EFO:1000887 semapv:UnspecifiedMatching MONDO:0006718 cutaneous syphilis skos:exactMatch MEDGEN:52623 semapv:UnspecifiedMatching MONDO:0006718 cutaneous syphilis skos:exactMatch UMLS:C0039132 semapv:UnspecifiedMatching MONDO:0006718 cutaneous syphilis skos:exactMatch mesh:D013591 semapv:UnspecifiedMatching MONDO:0006720 cystic, mucinous, and serous neoplasm skos:exactMatch EFO:1000889 semapv:UnspecifiedMatching MONDO:0006720 cystic, mucinous, and serous neoplasm skos:exactMatch MEDGEN:61678 semapv:UnspecifiedMatching MONDO:0006720 cystic, mucinous, and serous neoplasm skos:exactMatch UMLS:C0206767 semapv:UnspecifiedMatching MONDO:0006720 cystic, mucinous, and serous neoplasm skos:exactMatch mesh:D018297 semapv:UnspecifiedMatching MONDO:0006721 de Quervain disease skos:exactMatch DOID:14107 De Quervain disease semapv:UnspecifiedMatching MONDO:0006721 de Quervain disease skos:exactMatch EFO:1000891 semapv:UnspecifiedMatching MONDO:0006721 de Quervain disease skos:exactMatch ICD10CM:M65.4 Radial styloid tenosynovitis [de Quervain] semapv:UnspecifiedMatching MONDO:0006721 de Quervain disease skos:exactMatch MEDGEN:101771 semapv:UnspecifiedMatching MONDO:0006721 de Quervain disease skos:exactMatch SCTID:21794005 semapv:UnspecifiedMatching MONDO:0006721 de Quervain disease skos:exactMatch UMLS:C0149870 semapv:UnspecifiedMatching MONDO:0006721 de Quervain disease skos:exactMatch mesh:D053684 semapv:UnspecifiedMatching MONDO:0006722 dental fluorosis skos:exactMatch DOID:13711 dental fluorosis semapv:UnspecifiedMatching MONDO:0006722 dental fluorosis skos:exactMatch EFO:1000892 semapv:UnspecifiedMatching MONDO:0006722 dental fluorosis skos:exactMatch ICD10CM:K00.3 Mottled teeth semapv:UnspecifiedMatching MONDO:0006722 dental fluorosis skos:exactMatch MEDGEN:44506 semapv:UnspecifiedMatching MONDO:0006722 dental fluorosis skos:exactMatch NCIT:C85059 Dental Fluorosis semapv:UnspecifiedMatching MONDO:0006722 dental fluorosis skos:exactMatch SCTID:30265004 semapv:UnspecifiedMatching MONDO:0006722 dental fluorosis skos:exactMatch UMLS:C0026618 semapv:UnspecifiedMatching MONDO:0006722 dental fluorosis skos:exactMatch mesh:D009050 semapv:UnspecifiedMatching MONDO:0006723 denture stomatitis skos:exactMatch DOID:11875 denture stomatitis semapv:UnspecifiedMatching MONDO:0006723 denture stomatitis skos:exactMatch EFO:1000893 semapv:UnspecifiedMatching MONDO:0006723 denture stomatitis skos:exactMatch MEDGEN:21333 semapv:UnspecifiedMatching MONDO:0006723 denture stomatitis skos:exactMatch SCTID:69254008 semapv:UnspecifiedMatching MONDO:0006723 denture stomatitis skos:exactMatch UMLS:C0038364 semapv:UnspecifiedMatching MONDO:0006723 denture stomatitis skos:exactMatch mesh:D013282 semapv:UnspecifiedMatching MONDO:0006726 diaphragmatic eventration skos:exactMatch DOID:10480 diaphragmatic eventration semapv:UnspecifiedMatching MONDO:0006726 diaphragmatic eventration skos:exactMatch EFO:1000898 semapv:UnspecifiedMatching MONDO:0006726 diaphragmatic eventration skos:exactMatch MEDGEN:8359 semapv:UnspecifiedMatching MONDO:0006726 diaphragmatic eventration skos:exactMatch NCIT:C98912 Diaphragmatic Eventration semapv:UnspecifiedMatching MONDO:0006726 diaphragmatic eventration skos:exactMatch SCTID:34168003 semapv:UnspecifiedMatching MONDO:0006726 diaphragmatic eventration skos:exactMatch UMLS:C0011981 semapv:UnspecifiedMatching MONDO:0006726 diaphragmatic eventration skos:exactMatch mesh:D003965 semapv:UnspecifiedMatching MONDO:0006727 diastolic heart failure skos:exactMatch DOID:9775 diastolic heart failure semapv:UnspecifiedMatching MONDO:0006727 diastolic heart failure skos:exactMatch EFO:1000899 semapv:UnspecifiedMatching MONDO:0006727 diastolic heart failure skos:exactMatch MEDGEN:210051 semapv:UnspecifiedMatching MONDO:0006727 diastolic heart failure skos:exactMatch SCTID:418304008 semapv:UnspecifiedMatching MONDO:0006727 diastolic heart failure skos:exactMatch UMLS:C1135196 semapv:UnspecifiedMatching MONDO:0006727 diastolic heart failure skos:exactMatch mesh:D054144 semapv:UnspecifiedMatching MONDO:0006728 obsolete discitis skos:exactMatch DOID:10986 discitis semapv:UnspecifiedMatching MONDO:0006728 obsolete discitis skos:exactMatch SCTID:2304001 semapv:UnspecifiedMatching MONDO:0006728 obsolete discitis skos:exactMatch mesh:D015299 semapv:UnspecifiedMatching MONDO:0006729 discrete subaortic stenosis skos:exactMatch DOID:5804 discrete subaortic stenosis semapv:UnspecifiedMatching MONDO:0006729 discrete subaortic stenosis skos:exactMatch MEDGEN:3867 semapv:UnspecifiedMatching MONDO:0006729 discrete subaortic stenosis skos:exactMatch UMLS:C0012628 semapv:UnspecifiedMatching MONDO:0006729 discrete subaortic stenosis skos:exactMatch mesh:D021922 semapv:UnspecifiedMatching MONDO:0006730 drug psychosis skos:exactMatch DOID:1742 drug psychosis semapv:UnspecifiedMatching MONDO:0006730 drug psychosis skos:exactMatch MEDGEN:46195 semapv:UnspecifiedMatching MONDO:0006730 drug psychosis skos:exactMatch SCTID:191483003 semapv:UnspecifiedMatching MONDO:0006730 drug psychosis skos:exactMatch UMLS:C0033937 semapv:UnspecifiedMatching MONDO:0006730 drug psychosis skos:exactMatch mesh:D011605 semapv:UnspecifiedMatching MONDO:0006731 drug-induced akathisia skos:exactMatch ICD10CM:G25.71 Drug induced akathisia semapv:UnspecifiedMatching MONDO:0006731 drug-induced akathisia skos:exactMatch MEDGEN:57937 semapv:UnspecifiedMatching MONDO:0006731 drug-induced akathisia skos:exactMatch SCTID:230333002 semapv:UnspecifiedMatching MONDO:0006731 drug-induced akathisia skos:exactMatch UMLS:C0162550 semapv:UnspecifiedMatching MONDO:0006731 drug-induced akathisia skos:exactMatch mesh:D017109 semapv:UnspecifiedMatching MONDO:0006732 drug-induced dyskinesia skos:exactMatch EFO:1000904 semapv:UnspecifiedMatching MONDO:0006732 drug-induced dyskinesia skos:exactMatch MEDGEN:3935 semapv:UnspecifiedMatching MONDO:0006732 drug-induced dyskinesia skos:exactMatch SCTID:102448004 semapv:UnspecifiedMatching MONDO:0006732 drug-induced dyskinesia skos:exactMatch UMLS:C0013386 semapv:UnspecifiedMatching MONDO:0006732 drug-induced dyskinesia skos:exactMatch mesh:D004409 semapv:UnspecifiedMatching MONDO:0006733 dry eye syndrome skos:exactMatch DOID:10140 dry eye syndrome semapv:UnspecifiedMatching MONDO:0006733 dry eye syndrome skos:exactMatch DOID:12895 keratoconjunctivitis sicca semapv:UnspecifiedMatching MONDO:0006733 dry eye syndrome skos:exactMatch EFO:1000906 semapv:UnspecifiedMatching MONDO:0006733 dry eye syndrome skos:exactMatch ICD10CM:H04.12 Dry eye syndrome semapv:UnspecifiedMatching MONDO:0006733 dry eye syndrome skos:exactMatch MEDGEN:4411 semapv:UnspecifiedMatching MONDO:0006733 dry eye syndrome skos:exactMatch NCIT:C34553 Dry Eye Syndrome semapv:UnspecifiedMatching MONDO:0006733 dry eye syndrome skos:exactMatch SCTID:302896008 semapv:UnspecifiedMatching MONDO:0006733 dry eye syndrome skos:exactMatch SCTID:46152009 semapv:UnspecifiedMatching MONDO:0006733 dry eye syndrome skos:exactMatch UMLS:C0013238 semapv:UnspecifiedMatching MONDO:0006733 dry eye syndrome skos:exactMatch mesh:D007638 semapv:UnspecifiedMatching MONDO:0006733 dry eye syndrome skos:exactMatch mesh:D015352 semapv:UnspecifiedMatching MONDO:0006734 benign duodenal neoplasm skos:exactMatch DOID:1737 duodenal benign neoplasm semapv:UnspecifiedMatching MONDO:0006734 benign duodenal neoplasm skos:exactMatch EFO:1000907 semapv:UnspecifiedMatching MONDO:0006734 benign duodenal neoplasm skos:exactMatch ICD10CM:D13.2 Benign neoplasm of duodenum semapv:UnspecifiedMatching MONDO:0006734 benign duodenal neoplasm skos:exactMatch MEDGEN:96924 semapv:UnspecifiedMatching MONDO:0006734 benign duodenal neoplasm skos:exactMatch NCIT:C4775 Benign Duodenal Neoplasm semapv:UnspecifiedMatching MONDO:0006734 benign duodenal neoplasm skos:exactMatch SCTID:92080005 semapv:UnspecifiedMatching MONDO:0006734 benign duodenal neoplasm skos:exactMatch UMLS:C0496869 semapv:UnspecifiedMatching MONDO:0006734 benign duodenal neoplasm skos:exactMatch icd11.foundation:1748537954 Benign neoplasm of duodenum semapv:UnspecifiedMatching MONDO:0006735 duodenogastric reflux skos:exactMatch DOID:4071 duodenogastric reflux semapv:UnspecifiedMatching MONDO:0006735 duodenogastric reflux skos:exactMatch EFO:1000909 semapv:UnspecifiedMatching MONDO:0006735 duodenogastric reflux skos:exactMatch MEDGEN:4420 semapv:UnspecifiedMatching MONDO:0006735 duodenogastric reflux skos:exactMatch UMLS:C0013299 semapv:UnspecifiedMatching MONDO:0006735 duodenogastric reflux skos:exactMatch mesh:D004383 semapv:UnspecifiedMatching MONDO:0006736 dysplasia of cervix skos:exactMatch EFO:1000910 semapv:UnspecifiedMatching MONDO:0006736 dysplasia of cervix skos:exactMatch MEDGEN:2971 semapv:UnspecifiedMatching MONDO:0006736 dysplasia of cervix skos:exactMatch SCTID:73391008 semapv:UnspecifiedMatching MONDO:0006736 dysplasia of cervix skos:exactMatch UMLS:C0007868 semapv:UnspecifiedMatching MONDO:0006736 dysplasia of cervix skos:exactMatch mesh:D002578 semapv:UnspecifiedMatching MONDO:0006737 dystocia skos:exactMatch EFO:1000911 semapv:UnspecifiedMatching MONDO:0006737 dystocia skos:exactMatch MEDGEN:3939 semapv:UnspecifiedMatching MONDO:0006737 dystocia skos:exactMatch UMLS:C0013418 semapv:UnspecifiedMatching MONDO:0006737 dystocia skos:exactMatch mesh:D004420 semapv:UnspecifiedMatching MONDO:0006738 eccrine acrospiroma skos:exactMatch DOID:5442 eccrine acrospiroma semapv:UnspecifiedMatching MONDO:0006738 eccrine acrospiroma skos:exactMatch EFO:1000912 semapv:UnspecifiedMatching MONDO:0006738 eccrine acrospiroma skos:exactMatch MEDGEN:104915 semapv:UnspecifiedMatching MONDO:0006738 eccrine acrospiroma skos:exactMatch NCIT:C27273 Poroma semapv:UnspecifiedMatching MONDO:0006738 eccrine acrospiroma skos:exactMatch SCTID:400099008 semapv:UnspecifiedMatching MONDO:0006738 eccrine acrospiroma skos:exactMatch UMLS:C0206671 semapv:UnspecifiedMatching MONDO:0006738 eccrine acrospiroma skos:exactMatch mesh:D018250 semapv:UnspecifiedMatching MONDO:0006739 Ehrlich tumor carcinoma skos:exactMatch DOID:5050 Ehrlich tumor carcinoma semapv:UnspecifiedMatching MONDO:0006739 Ehrlich tumor carcinoma skos:exactMatch EFO:1000913 semapv:UnspecifiedMatching MONDO:0006739 Ehrlich tumor carcinoma skos:exactMatch MEDGEN:40103 semapv:UnspecifiedMatching MONDO:0006739 Ehrlich tumor carcinoma skos:exactMatch UMLS:C0007125 semapv:UnspecifiedMatching MONDO:0006739 Ehrlich tumor carcinoma skos:exactMatch mesh:D002286 semapv:UnspecifiedMatching MONDO:0006740 empty sella syndrome skos:exactMatch DOID:3642 empty sella syndrome semapv:UnspecifiedMatching MONDO:0006740 empty sella syndrome skos:exactMatch EFO:1000914 semapv:UnspecifiedMatching MONDO:0006740 empty sella syndrome skos:exactMatch MEDGEN:41766 semapv:UnspecifiedMatching MONDO:0006740 empty sella syndrome skos:exactMatch NCIT:C84686 Empty Sella Syndrome semapv:UnspecifiedMatching MONDO:0006740 empty sella syndrome skos:exactMatch SCTID:237722004 semapv:UnspecifiedMatching MONDO:0006740 empty sella syndrome skos:exactMatch UMLS:C0014008 semapv:UnspecifiedMatching MONDO:0006740 empty sella syndrome skos:exactMatch icd11.foundation:49112094 Empty sella syndrome semapv:UnspecifiedMatching MONDO:0006740 empty sella syndrome skos:exactMatch mesh:D004652 semapv:UnspecifiedMatching MONDO:0006741 encephalomalacia skos:exactMatch DOID:2034 encephalomalacia semapv:UnspecifiedMatching MONDO:0006741 encephalomalacia skos:exactMatch EFO:1000915 semapv:UnspecifiedMatching MONDO:0006741 encephalomalacia skos:exactMatch MEDGEN:4936 semapv:UnspecifiedMatching MONDO:0006741 encephalomalacia skos:exactMatch NCIT:C98920 Encephalomalacia semapv:UnspecifiedMatching MONDO:0006741 encephalomalacia skos:exactMatch SCTID:58762006 semapv:UnspecifiedMatching MONDO:0006741 encephalomalacia skos:exactMatch UMLS:C0014068 semapv:UnspecifiedMatching MONDO:0006741 encephalomalacia skos:exactMatch icd11.foundation:689481271 Encephalomalacia semapv:UnspecifiedMatching MONDO:0006741 encephalomalacia skos:exactMatch mesh:D004678 semapv:UnspecifiedMatching MONDO:0006742 endemic goiter skos:exactMatch DOID:13198 endemic goiter semapv:UnspecifiedMatching MONDO:0006742 endemic goiter skos:exactMatch EFO:1000916 semapv:UnspecifiedMatching MONDO:0006742 endemic goiter skos:exactMatch MEDGEN:5357 semapv:UnspecifiedMatching MONDO:0006742 endemic goiter skos:exactMatch NCIT:C35023 Endemic Goiter semapv:UnspecifiedMatching MONDO:0006742 endemic goiter skos:exactMatch SCTID:56805008 semapv:UnspecifiedMatching MONDO:0006742 endemic goiter skos:exactMatch UMLS:C0018022 semapv:UnspecifiedMatching MONDO:0006742 endemic goiter skos:exactMatch mesh:D006043 semapv:UnspecifiedMatching MONDO:0006743 endocrine tuberculosis skos:exactMatch MEDGEN:52884 semapv:UnspecifiedMatching MONDO:0006743 endocrine tuberculosis skos:exactMatch UMLS:C0041310 semapv:UnspecifiedMatching MONDO:0006743 endocrine tuberculosis skos:exactMatch mesh:D014383 semapv:UnspecifiedMatching MONDO:0006744 endolymphatic hydrops skos:exactMatch DOID:9848 endolymphatic hydrops semapv:UnspecifiedMatching MONDO:0006744 endolymphatic hydrops skos:exactMatch EFO:1000918 semapv:UnspecifiedMatching MONDO:0006744 endolymphatic hydrops skos:exactMatch MEDGEN:60183 semapv:UnspecifiedMatching MONDO:0006744 endolymphatic hydrops skos:exactMatch SCTID:27621000119100 semapv:UnspecifiedMatching MONDO:0006744 endolymphatic hydrops skos:exactMatch UMLS:C0206586 semapv:UnspecifiedMatching MONDO:0006744 endolymphatic hydrops skos:exactMatch mesh:D018159 semapv:UnspecifiedMatching MONDO:0006745 endometrioid stromal sarcoma skos:exactMatch DOID:4226 endometrial stromal sarcoma semapv:UnspecifiedMatching MONDO:0006745 endometrioid stromal sarcoma skos:exactMatch EFO:1000919 semapv:UnspecifiedMatching MONDO:0006745 endometrioid stromal sarcoma skos:exactMatch MEDGEN:60196 semapv:UnspecifiedMatching MONDO:0006745 endometrioid stromal sarcoma skos:exactMatch NCIT:C8973 Endometrioid Stromal Sarcoma semapv:UnspecifiedMatching MONDO:0006745 endometrioid stromal sarcoma skos:exactMatch Orphanet:213711 Endometrial stromal sarcoma semapv:UnspecifiedMatching MONDO:0006745 endometrioid stromal sarcoma skos:exactMatch SCTID:699356008 semapv:UnspecifiedMatching MONDO:0006745 endometrioid stromal sarcoma skos:exactMatch UMLS:C0206630 semapv:UnspecifiedMatching MONDO:0006745 endometrioid stromal sarcoma skos:exactMatch mesh:D018203 semapv:UnspecifiedMatching MONDO:0006746 endomyocardial fibrosis skos:exactMatch DOID:12932 endomyocardial fibrosis semapv:UnspecifiedMatching MONDO:0006746 endomyocardial fibrosis skos:exactMatch EFO:1000921 semapv:UnspecifiedMatching MONDO:0006746 endomyocardial fibrosis skos:exactMatch MEDGEN:107513 semapv:UnspecifiedMatching MONDO:0006746 endomyocardial fibrosis skos:exactMatch NCIT:C34585 Endomyocardial Fibrosis semapv:UnspecifiedMatching MONDO:0006746 endomyocardial fibrosis skos:exactMatch UMLS:C0553980 semapv:UnspecifiedMatching MONDO:0006746 endomyocardial fibrosis skos:exactMatch icd11.foundation:365224859 Endomyocardial fibrosis semapv:UnspecifiedMatching MONDO:0006746 endomyocardial fibrosis skos:exactMatch mesh:D004719 semapv:UnspecifiedMatching MONDO:0006747 enterotoxemia skos:exactMatch EFO:1000922 semapv:UnspecifiedMatching MONDO:0006747 enterotoxemia skos:exactMatch SCTID:370514003 semapv:UnspecifiedMatching MONDO:0006747 enterotoxemia skos:exactMatch mesh:D004767 semapv:UnspecifiedMatching MONDO:0006748 obsolete epilepsia partialis continua skos:exactMatch DOID:11349 obsolete epilepsia partialis continua semapv:UnspecifiedMatching MONDO:0006748 obsolete epilepsia partialis continua skos:exactMatch EFO:1000924 semapv:UnspecifiedMatching MONDO:0006748 obsolete epilepsia partialis continua skos:exactMatch SCTID:241006 semapv:UnspecifiedMatching MONDO:0006748 obsolete epilepsia partialis continua skos:exactMatch icd11.foundation:669338526 Epilepsia partialis continua semapv:UnspecifiedMatching MONDO:0006748 obsolete epilepsia partialis continua skos:exactMatch mesh:D017036 semapv:UnspecifiedMatching MONDO:0006749 mixed epithelioid and spindle cell melanoma skos:exactMatch MEDGEN:1859670 semapv:UnspecifiedMatching MONDO:0006749 mixed epithelioid and spindle cell melanoma skos:exactMatch NCIT:C66756 Mixed Epithelioid and Spindle Cell Melanoma semapv:UnspecifiedMatching MONDO:0006749 mixed epithelioid and spindle cell melanoma skos:exactMatch SCTID:254811006 semapv:UnspecifiedMatching MONDO:0006749 mixed epithelioid and spindle cell melanoma skos:exactMatch UMLS:C5886750 semapv:UnspecifiedMatching MONDO:0006749 mixed epithelioid and spindle cell melanoma skos:exactMatch mesh:D018332 semapv:UnspecifiedMatching MONDO:0006751 Erysipelothrix infectious disease skos:exactMatch MEDGEN:41856 semapv:UnspecifiedMatching MONDO:0006751 Erysipelothrix infectious disease skos:exactMatch SCTID:367434002 semapv:UnspecifiedMatching MONDO:0006751 Erysipelothrix infectious disease skos:exactMatch UMLS:C0014736 semapv:UnspecifiedMatching MONDO:0006751 Erysipelothrix infectious disease skos:exactMatch mesh:D004889 semapv:UnspecifiedMatching MONDO:0006752 Erysipelothrix rhusiopathiae infectious disease skos:exactMatch DOID:0050061 erysipeloid semapv:UnspecifiedMatching MONDO:0006752 Erysipelothrix rhusiopathiae infectious disease skos:exactMatch EFO:1000928 semapv:UnspecifiedMatching MONDO:0006752 Erysipelothrix rhusiopathiae infectious disease skos:exactMatch ICD10CM:A26 Erysipeloid semapv:UnspecifiedMatching MONDO:0006752 Erysipelothrix rhusiopathiae infectious disease skos:exactMatch MEDGEN:266170 semapv:UnspecifiedMatching MONDO:0006752 Erysipelothrix rhusiopathiae infectious disease skos:exactMatch SCTID:400105005 semapv:UnspecifiedMatching MONDO:0006752 Erysipelothrix rhusiopathiae infectious disease skos:exactMatch UMLS:C1276801 semapv:UnspecifiedMatching MONDO:0006752 Erysipelothrix rhusiopathiae infectious disease skos:exactMatch mesh:D004887 semapv:UnspecifiedMatching MONDO:0006753 Escherichia coli meningitis skos:exactMatch EFO:1000929 semapv:UnspecifiedMatching MONDO:0006753 Escherichia coli meningitis skos:exactMatch MEDGEN:90920 semapv:UnspecifiedMatching MONDO:0006753 Escherichia coli meningitis skos:exactMatch SCTID:192655005 semapv:UnspecifiedMatching MONDO:0006753 Escherichia coli meningitis skos:exactMatch UMLS:C0338395 semapv:UnspecifiedMatching MONDO:0006753 Escherichia coli meningitis skos:exactMatch mesh:D020814 semapv:UnspecifiedMatching MONDO:0006754 esophageal diverticulosis skos:exactMatch DOID:13185 esophageal diverticulosis semapv:UnspecifiedMatching MONDO:0006754 esophageal diverticulosis skos:exactMatch MEDGEN:214609 semapv:UnspecifiedMatching MONDO:0006754 esophageal diverticulosis skos:exactMatch UMLS:C0917875 semapv:UnspecifiedMatching MONDO:0006754 esophageal diverticulosis skos:exactMatch mesh:D045723 semapv:UnspecifiedMatching MONDO:0006755 euthyroid sick syndrome skos:exactMatch DOID:2856 euthyroid sick syndrome semapv:UnspecifiedMatching MONDO:0006755 euthyroid sick syndrome skos:exactMatch EFO:1000931 semapv:UnspecifiedMatching MONDO:0006755 euthyroid sick syndrome skos:exactMatch ICD10CM:E07.81 Sick-euthyroid syndrome semapv:UnspecifiedMatching MONDO:0006755 euthyroid sick syndrome skos:exactMatch MEDGEN:41908 semapv:UnspecifiedMatching MONDO:0006755 euthyroid sick syndrome skos:exactMatch NCIT:C113170 Sick Euthyroid Syndrome semapv:UnspecifiedMatching MONDO:0006755 euthyroid sick syndrome skos:exactMatch SCTID:237542005 semapv:UnspecifiedMatching MONDO:0006755 euthyroid sick syndrome skos:exactMatch UMLS:C0015190 semapv:UnspecifiedMatching MONDO:0006755 euthyroid sick syndrome skos:exactMatch mesh:D005067 semapv:UnspecifiedMatching MONDO:0006757 extrahepatic cholestasis skos:exactMatch DOID:13619 extrahepatic cholestasis semapv:UnspecifiedMatching MONDO:0006757 extrahepatic cholestasis skos:exactMatch EFO:1000933 semapv:UnspecifiedMatching MONDO:0006757 extrahepatic cholestasis skos:exactMatch MEDGEN:2241 semapv:UnspecifiedMatching MONDO:0006757 extrahepatic cholestasis skos:exactMatch SCTID:8262006 semapv:UnspecifiedMatching MONDO:0006757 extrahepatic cholestasis skos:exactMatch UMLS:C0005398 semapv:UnspecifiedMatching MONDO:0006757 extrahepatic cholestasis skos:exactMatch mesh:D001651 semapv:UnspecifiedMatching MONDO:0006758 female genital tuberculosis skos:exactMatch EFO:1000935 semapv:UnspecifiedMatching MONDO:0006758 female genital tuberculosis skos:exactMatch MEDGEN:21724 semapv:UnspecifiedMatching MONDO:0006758 female genital tuberculosis skos:exactMatch SCTID:74181004 semapv:UnspecifiedMatching MONDO:0006758 female genital tuberculosis skos:exactMatch UMLS:C0041311 semapv:UnspecifiedMatching MONDO:0006758 female genital tuberculosis skos:exactMatch mesh:D014384 semapv:UnspecifiedMatching MONDO:0006759 femoral neuropathy skos:exactMatch DOID:4196 femoral neuropathy semapv:UnspecifiedMatching MONDO:0006759 femoral neuropathy skos:exactMatch MEDGEN:148421 semapv:UnspecifiedMatching MONDO:0006759 femoral neuropathy skos:exactMatch NCIT:C27595 Femoral Neuropathy semapv:UnspecifiedMatching MONDO:0006759 femoral neuropathy skos:exactMatch SCTID:25690000 semapv:UnspecifiedMatching MONDO:0006759 femoral neuropathy skos:exactMatch UMLS:C0751931 semapv:UnspecifiedMatching MONDO:0006759 femoral neuropathy skos:exactMatch mesh:D020428 semapv:UnspecifiedMatching MONDO:0006760 fetal erythroblastosis skos:exactMatch DOID:1098 hemolytic disease of the fetus semapv:UnspecifiedMatching MONDO:0006760 fetal erythroblastosis skos:exactMatch EFO:1000937 semapv:UnspecifiedMatching MONDO:0006760 fetal erythroblastosis skos:exactMatch MEDGEN:4530 semapv:UnspecifiedMatching MONDO:0006760 fetal erythroblastosis skos:exactMatch NCIT:C101304 Hemolytic Disease of the Newborn semapv:UnspecifiedMatching MONDO:0006760 fetal erythroblastosis skos:exactMatch SCTID:387705004 semapv:UnspecifiedMatching MONDO:0006760 fetal erythroblastosis skos:exactMatch UMLS:C0014761 semapv:UnspecifiedMatching MONDO:0006760 fetal erythroblastosis skos:exactMatch mesh:D004899 semapv:UnspecifiedMatching MONDO:0006761 fibromuscular dysplasia skos:exactMatch EFO:1000938 semapv:UnspecifiedMatching MONDO:0006761 fibromuscular dysplasia skos:exactMatch MEDGEN:4700 semapv:UnspecifiedMatching MONDO:0006761 fibromuscular dysplasia skos:exactMatch NCIT:C84714 Fibromuscular Dysplasia semapv:UnspecifiedMatching MONDO:0006761 fibromuscular dysplasia skos:exactMatch OMIM:135580 fibromuscular dysplasia, arterial semapv:UnspecifiedMatching MONDO:0006761 fibromuscular dysplasia skos:exactMatch Orphanet:698012 Fibromuscular dysplasia semapv:UnspecifiedMatching MONDO:0006761 fibromuscular dysplasia skos:exactMatch UMLS:C0016052 semapv:UnspecifiedMatching MONDO:0006761 fibromuscular dysplasia skos:exactMatch icd11.foundation:280853107 Arterial fibromuscular dysplasia semapv:UnspecifiedMatching MONDO:0006761 fibromuscular dysplasia skos:exactMatch mesh:C537929 semapv:UnspecifiedMatching MONDO:0006761 fibromuscular dysplasia skos:exactMatch mesh:D005352 semapv:UnspecifiedMatching MONDO:0006762 freemartinism skos:exactMatch DOID:4671 freemartinism semapv:UnspecifiedMatching MONDO:0006762 freemartinism skos:exactMatch EFO:1000939 semapv:UnspecifiedMatching MONDO:0006762 freemartinism skos:exactMatch mesh:D005611 semapv:UnspecifiedMatching MONDO:0006763 frozen shoulder skos:exactMatch DOID:14188 frozen shoulder semapv:UnspecifiedMatching MONDO:0006763 frozen shoulder skos:exactMatch EFO:1000941 semapv:UnspecifiedMatching MONDO:0006763 frozen shoulder skos:exactMatch ICD10CM:M75.0 Adhesive capsulitis of shoulder semapv:UnspecifiedMatching MONDO:0006763 frozen shoulder skos:exactMatch MEDGEN:90227 semapv:UnspecifiedMatching MONDO:0006763 frozen shoulder skos:exactMatch SCTID:399114005 semapv:UnspecifiedMatching MONDO:0006763 frozen shoulder skos:exactMatch UMLS:C0311223 semapv:UnspecifiedMatching MONDO:0006764 fungal meningitis skos:exactMatch DOID:11608 fungal meningitis semapv:UnspecifiedMatching MONDO:0006764 fungal meningitis skos:exactMatch EFO:1000942 semapv:UnspecifiedMatching MONDO:0006764 fungal meningitis skos:exactMatch MEDGEN:39285 semapv:UnspecifiedMatching MONDO:0006764 fungal meningitis skos:exactMatch SCTID:24321005 semapv:UnspecifiedMatching MONDO:0006764 fungal meningitis skos:exactMatch UMLS:C0085438 semapv:UnspecifiedMatching MONDO:0006764 fungal meningitis skos:exactMatch icd11.foundation:1137081791 Fungal meningitis semapv:UnspecifiedMatching MONDO:0006764 fungal meningitis skos:exactMatch mesh:D016921 semapv:UnspecifiedMatching MONDO:0006765 Fusobacterium infectious disease skos:exactMatch EFO:1000943 semapv:UnspecifiedMatching MONDO:0006765 Fusobacterium infectious disease skos:exactMatch MEDGEN:872278 semapv:UnspecifiedMatching MONDO:0006765 Fusobacterium infectious disease skos:exactMatch SCTID:712657002 semapv:UnspecifiedMatching MONDO:0006765 Fusobacterium infectious disease skos:exactMatch UMLS:C4039413 semapv:UnspecifiedMatching MONDO:0006766 gait apraxia skos:exactMatch DOID:4260 gait apraxia semapv:UnspecifiedMatching MONDO:0006766 gait apraxia skos:exactMatch MEDGEN:266930 semapv:UnspecifiedMatching MONDO:0006766 gait apraxia skos:exactMatch UMLS:C1510417 semapv:UnspecifiedMatching MONDO:0006766 gait apraxia skos:exactMatch mesh:D020235 semapv:UnspecifiedMatching MONDO:0006767 gastric antral vascular ectasia skos:exactMatch DOID:2493 gastric antral vascular ectasia semapv:UnspecifiedMatching MONDO:0006767 gastric antral vascular ectasia skos:exactMatch EFO:1000945 semapv:UnspecifiedMatching MONDO:0006767 gastric antral vascular ectasia skos:exactMatch MEDGEN:82753 semapv:UnspecifiedMatching MONDO:0006767 gastric antral vascular ectasia skos:exactMatch NCIT:C84724 Gastric Antral Vascular Ectasia semapv:UnspecifiedMatching MONDO:0006767 gastric antral vascular ectasia skos:exactMatch SCTID:43935004 semapv:UnspecifiedMatching MONDO:0006767 gastric antral vascular ectasia skos:exactMatch UMLS:C0267211 semapv:UnspecifiedMatching MONDO:0006767 gastric antral vascular ectasia skos:exactMatch mesh:D020252 semapv:UnspecifiedMatching MONDO:0006769 gastroparesis skos:exactMatch DOID:11914 gastroparesis semapv:UnspecifiedMatching MONDO:0006769 gastroparesis skos:exactMatch EFO:1000948 semapv:UnspecifiedMatching MONDO:0006769 gastroparesis skos:exactMatch ICD10CM:K31.84 Gastroparesis semapv:UnspecifiedMatching MONDO:0006769 gastroparesis skos:exactMatch MEDGEN:101809 semapv:UnspecifiedMatching MONDO:0006769 gastroparesis skos:exactMatch SCTID:196753007 semapv:UnspecifiedMatching MONDO:0006769 gastroparesis skos:exactMatch UMLS:C0152020 semapv:UnspecifiedMatching MONDO:0006769 gastroparesis skos:exactMatch icd11.foundation:598423727 Gastroparesis semapv:UnspecifiedMatching MONDO:0006769 gastroparesis skos:exactMatch mesh:D018589 semapv:UnspecifiedMatching MONDO:0006770 giant cell reparative granuloma skos:exactMatch DOID:1866 giant cell reparative granuloma semapv:UnspecifiedMatching MONDO:0006770 giant cell reparative granuloma skos:exactMatch EFO:1000950 semapv:UnspecifiedMatching MONDO:0006770 giant cell reparative granuloma skos:exactMatch MEDGEN:102385 semapv:UnspecifiedMatching MONDO:0006770 giant cell reparative granuloma skos:exactMatch NCIT:C121893 Giant Cell Lesion of Small Bones semapv:UnspecifiedMatching MONDO:0006770 giant cell reparative granuloma skos:exactMatch Orphanet:696078 Central Giant Cell Granuloma semapv:UnspecifiedMatching MONDO:0006770 giant cell reparative granuloma skos:exactMatch SCTID:15350006 semapv:UnspecifiedMatching MONDO:0006770 giant cell reparative granuloma skos:exactMatch UMLS:C0162375 semapv:UnspecifiedMatching MONDO:0006770 giant cell reparative granuloma skos:exactMatch mesh:D006101 semapv:UnspecifiedMatching MONDO:0006771 glossitis skos:exactMatch DOID:1456 glossitis semapv:UnspecifiedMatching MONDO:0006771 glossitis skos:exactMatch EFO:1000951 semapv:UnspecifiedMatching MONDO:0006771 glossitis skos:exactMatch ICD10CM:K14.0 Glossitis semapv:UnspecifiedMatching MONDO:0006771 glossitis skos:exactMatch MEDGEN:6618 semapv:UnspecifiedMatching MONDO:0006771 glossitis skos:exactMatch SCTID:45534005 semapv:UnspecifiedMatching MONDO:0006771 glossitis skos:exactMatch UMLS:C0017675 semapv:UnspecifiedMatching MONDO:0006771 glossitis skos:exactMatch icd11.foundation:843084384 Glossitis semapv:UnspecifiedMatching MONDO:0006771 glossitis skos:exactMatch mesh:D005928 semapv:UnspecifiedMatching MONDO:0006773 gonadal tissue neoplasm skos:exactMatch MEDGEN:104925 semapv:UnspecifiedMatching MONDO:0006773 gonadal tissue neoplasm skos:exactMatch UMLS:C0206722 semapv:UnspecifiedMatching MONDO:0006773 gonadal tissue neoplasm skos:exactMatch mesh:D018309 semapv:UnspecifiedMatching MONDO:0006774 habitual spontaneous abortion skos:exactMatch EFO:1000954 semapv:UnspecifiedMatching MONDO:0006774 habitual spontaneous abortion skos:exactMatch MEDGEN:1259 semapv:UnspecifiedMatching MONDO:0006774 habitual spontaneous abortion skos:exactMatch SCTID:102878001 semapv:UnspecifiedMatching MONDO:0006774 habitual spontaneous abortion skos:exactMatch UMLS:C0000809 semapv:UnspecifiedMatching MONDO:0006774 habitual spontaneous abortion skos:exactMatch mesh:D000026 semapv:UnspecifiedMatching MONDO:0006777 hairy tongue skos:exactMatch DOID:13500 hairy tongue semapv:UnspecifiedMatching MONDO:0006777 hairy tongue skos:exactMatch MEDGEN:21199 semapv:UnspecifiedMatching MONDO:0006777 hairy tongue skos:exactMatch NCIT:C35075 Hairy Tongue semapv:UnspecifiedMatching MONDO:0006777 hairy tongue skos:exactMatch SCTID:255225007 semapv:UnspecifiedMatching MONDO:0006777 hairy tongue skos:exactMatch UMLS:C0040414 semapv:UnspecifiedMatching MONDO:0006777 hairy tongue skos:exactMatch mesh:D014064 semapv:UnspecifiedMatching MONDO:0006778 halo nevus skos:exactMatch EFO:1000958 semapv:UnspecifiedMatching MONDO:0006778 halo nevus skos:exactMatch MEDGEN:141636 semapv:UnspecifiedMatching MONDO:0006778 halo nevus skos:exactMatch NCIT:C7602 Halo Nevus semapv:UnspecifiedMatching MONDO:0006778 halo nevus skos:exactMatch SCTID:398028009 semapv:UnspecifiedMatching MONDO:0006778 halo nevus skos:exactMatch UMLS:C0474824 semapv:UnspecifiedMatching MONDO:0006778 halo nevus skos:exactMatch mesh:D055882 semapv:UnspecifiedMatching MONDO:0006779 heart aneurysm skos:exactMatch DOID:9768 heart aneurysm semapv:UnspecifiedMatching MONDO:0006779 heart aneurysm skos:exactMatch EFO:1000959 semapv:UnspecifiedMatching MONDO:0006779 heart aneurysm skos:exactMatch ICD10CM:I25.3 Aneurysm of heart semapv:UnspecifiedMatching MONDO:0006779 heart aneurysm skos:exactMatch MEDGEN:42360 semapv:UnspecifiedMatching MONDO:0006779 heart aneurysm skos:exactMatch SCTID:65340007 semapv:UnspecifiedMatching MONDO:0006779 heart aneurysm skos:exactMatch UMLS:C0018789 semapv:UnspecifiedMatching MONDO:0006779 heart aneurysm skos:exactMatch icd11.foundation:1571863865 Aneurysm of heart semapv:UnspecifiedMatching MONDO:0006779 heart aneurysm skos:exactMatch mesh:D006322 semapv:UnspecifiedMatching MONDO:0006780 heartwater disease skos:exactMatch mesh:D006357 semapv:UnspecifiedMatching MONDO:0006781 Helicobacter pylori infectious disease skos:exactMatch EFO:1000961 semapv:UnspecifiedMatching MONDO:0006781 Helicobacter pylori infectious disease skos:exactMatch mesh:D016481 semapv:UnspecifiedMatching MONDO:0006782 hemometra skos:exactMatch DOID:9958 hemometra semapv:UnspecifiedMatching MONDO:0006782 hemometra skos:exactMatch ICD10CM:N85.7 Hematometra semapv:UnspecifiedMatching MONDO:0006782 hemometra skos:exactMatch MEDGEN:6776 semapv:UnspecifiedMatching MONDO:0006782 hemometra skos:exactMatch SCTID:38280009 semapv:UnspecifiedMatching MONDO:0006782 hemometra skos:exactMatch UMLS:C0018948 semapv:UnspecifiedMatching MONDO:0006782 hemometra skos:exactMatch mesh:D006409 semapv:UnspecifiedMatching MONDO:0006783 hemopneumothorax skos:exactMatch DOID:2718 hemopneumothorax semapv:UnspecifiedMatching MONDO:0006783 hemopneumothorax skos:exactMatch EFO:1000963 semapv:UnspecifiedMatching MONDO:0006783 hemopneumothorax skos:exactMatch ICD10CM:J94.2 Hemothorax semapv:UnspecifiedMatching MONDO:0006783 hemopneumothorax skos:exactMatch MEDGEN:9208 semapv:UnspecifiedMatching MONDO:0006783 hemopneumothorax skos:exactMatch SCTID:16632002 semapv:UnspecifiedMatching MONDO:0006783 hemopneumothorax skos:exactMatch UMLS:C0019077 semapv:UnspecifiedMatching MONDO:0006783 hemopneumothorax skos:exactMatch mesh:D006468 semapv:UnspecifiedMatching MONDO:0006784 hemorrhagic disease of newborn skos:exactMatch EFO:1000964 semapv:UnspecifiedMatching MONDO:0006784 hemorrhagic disease of newborn skos:exactMatch ICD10CM:P53 Hemorrhagic disease of newborn semapv:UnspecifiedMatching MONDO:0006784 hemorrhagic disease of newborn skos:exactMatch MEDGEN:42406 semapv:UnspecifiedMatching MONDO:0006784 hemorrhagic disease of newborn skos:exactMatch NCIT:C111857 Hemorrhagic Disease of Newborn semapv:UnspecifiedMatching MONDO:0006784 hemorrhagic disease of newborn skos:exactMatch SCTID:12546009 semapv:UnspecifiedMatching MONDO:0006784 hemorrhagic disease of newborn skos:exactMatch UMLS:C0019088 semapv:UnspecifiedMatching MONDO:0006784 hemorrhagic disease of newborn skos:exactMatch mesh:D006475 semapv:UnspecifiedMatching MONDO:0006786 hepatic vein thrombosis skos:exactMatch DOID:11512 Budd-Chiari syndrome semapv:UnspecifiedMatching MONDO:0006786 hepatic vein thrombosis skos:exactMatch EFO:1000966 semapv:UnspecifiedMatching MONDO:0006786 hepatic vein thrombosis skos:exactMatch MEDGEN:9217 semapv:UnspecifiedMatching MONDO:0006786 hepatic vein thrombosis skos:exactMatch SCTID:38739001 semapv:UnspecifiedMatching MONDO:0006786 hepatic vein thrombosis skos:exactMatch UMLS:C0019154 semapv:UnspecifiedMatching MONDO:0006786 hepatic vein thrombosis skos:exactMatch icd11.foundation:2131410813 Hepatic vein thrombosis semapv:UnspecifiedMatching MONDO:0006787 hidrocystoma skos:exactMatch DOID:3893 hidrocystoma semapv:UnspecifiedMatching MONDO:0006787 hidrocystoma skos:exactMatch EFO:1000967 semapv:UnspecifiedMatching MONDO:0006787 hidrocystoma skos:exactMatch MEDGEN:61656 semapv:UnspecifiedMatching MONDO:0006787 hidrocystoma skos:exactMatch NCIT:C3760 Hidrocystoma semapv:UnspecifiedMatching MONDO:0006787 hidrocystoma skos:exactMatch SCTID:254725004 semapv:UnspecifiedMatching MONDO:0006787 hidrocystoma skos:exactMatch UMLS:C0206672 semapv:UnspecifiedMatching MONDO:0006787 hidrocystoma skos:exactMatch icd11.foundation:2040265542 Hidrocystoma semapv:UnspecifiedMatching MONDO:0006787 hidrocystoma skos:exactMatch mesh:D018251 semapv:UnspecifiedMatching MONDO:0006789 hyperamylasemia skos:exactMatch EFO:1000969 semapv:UnspecifiedMatching MONDO:0006789 hyperamylasemia skos:exactMatch MEDGEN:105401 semapv:UnspecifiedMatching MONDO:0006789 hyperamylasemia skos:exactMatch UMLS:C0476327 semapv:UnspecifiedMatching MONDO:0006789 hyperamylasemia skos:exactMatch mesh:D034321 semapv:UnspecifiedMatching MONDO:0006790 hypercementosis skos:exactMatch DOID:12733 hypercementosis semapv:UnspecifiedMatching MONDO:0006790 hypercementosis skos:exactMatch EFO:1000970 semapv:UnspecifiedMatching MONDO:0006790 hypercementosis skos:exactMatch ICD10CM:K03.4 Hypercementosis semapv:UnspecifiedMatching MONDO:0006790 hypercementosis skos:exactMatch MEDGEN:9360 semapv:UnspecifiedMatching MONDO:0006790 hypercementosis skos:exactMatch SCTID:78537008 semapv:UnspecifiedMatching MONDO:0006790 hypercementosis skos:exactMatch UMLS:C0020441 semapv:UnspecifiedMatching MONDO:0006790 hypercementosis skos:exactMatch mesh:D006936 semapv:UnspecifiedMatching MONDO:0006791 hyperemesis gravidarum skos:exactMatch EFO:1000971 semapv:UnspecifiedMatching MONDO:0006791 hyperemesis gravidarum skos:exactMatch MEDGEN:43776 semapv:UnspecifiedMatching MONDO:0006791 hyperemesis gravidarum skos:exactMatch SCTID:14094001 semapv:UnspecifiedMatching MONDO:0006791 hyperemesis gravidarum skos:exactMatch UMLS:C0020450 semapv:UnspecifiedMatching MONDO:0006791 hyperemesis gravidarum skos:exactMatch mesh:D006939 semapv:UnspecifiedMatching MONDO:0006792 hyperglobulinemic purpura skos:exactMatch DOID:3325 hyperglobulinemic purpura semapv:UnspecifiedMatching MONDO:0006792 hyperglobulinemic purpura skos:exactMatch MEDGEN:19585 semapv:UnspecifiedMatching MONDO:0006792 hyperglobulinemic purpura skos:exactMatch SCTID:402852007 semapv:UnspecifiedMatching MONDO:0006792 hyperglobulinemic purpura skos:exactMatch UMLS:C0034151 semapv:UnspecifiedMatching MONDO:0006792 hyperglobulinemic purpura skos:exactMatch mesh:D011694 semapv:UnspecifiedMatching MONDO:0006793 hyperpituitarism skos:exactMatch DOID:2444 hyperpituitarism semapv:UnspecifiedMatching MONDO:0006793 hyperpituitarism skos:exactMatch EFO:1000973 semapv:UnspecifiedMatching MONDO:0006793 hyperpituitarism skos:exactMatch MEDGEN:43783 semapv:UnspecifiedMatching MONDO:0006793 hyperpituitarism skos:exactMatch SCTID:10649000 semapv:UnspecifiedMatching MONDO:0006793 hyperpituitarism skos:exactMatch UMLS:C0020506 semapv:UnspecifiedMatching MONDO:0006793 hyperpituitarism skos:exactMatch mesh:D006964 semapv:UnspecifiedMatching MONDO:0006794 hypersensitivity vasculitis skos:exactMatch DOID:9809 hypersensitivity vasculitis semapv:UnspecifiedMatching MONDO:0006794 hypersensitivity vasculitis skos:exactMatch EFO:1000974 semapv:UnspecifiedMatching MONDO:0006794 hypersensitivity vasculitis skos:exactMatch MEDGEN:445500 semapv:UnspecifiedMatching MONDO:0006794 hypersensitivity vasculitis skos:exactMatch NCIT:C82863 Leukocytoclastic Vasculitis semapv:UnspecifiedMatching MONDO:0006794 hypersensitivity vasculitis skos:exactMatch SCTID:60555002 semapv:UnspecifiedMatching MONDO:0006794 hypersensitivity vasculitis skos:exactMatch UMLS:C2973529 semapv:UnspecifiedMatching MONDO:0006795 hypersplenism skos:exactMatch DOID:6376 hypersplenism semapv:UnspecifiedMatching MONDO:0006795 hypersplenism skos:exactMatch EFO:1000975 semapv:UnspecifiedMatching MONDO:0006795 hypersplenism skos:exactMatch ICD10CM:D73.1 Hypersplenism semapv:UnspecifiedMatching MONDO:0006795 hypersplenism skos:exactMatch MEDGEN:9372 semapv:UnspecifiedMatching MONDO:0006795 hypersplenism skos:exactMatch NCIT:C34714 Hypersplenism semapv:UnspecifiedMatching MONDO:0006795 hypersplenism skos:exactMatch SCTID:58381000 semapv:UnspecifiedMatching MONDO:0006795 hypersplenism skos:exactMatch UMLS:C0020532 semapv:UnspecifiedMatching MONDO:0006795 hypersplenism skos:exactMatch icd11.foundation:2093549625 Hypersplenism semapv:UnspecifiedMatching MONDO:0006795 hypersplenism skos:exactMatch mesh:D006971 semapv:UnspecifiedMatching MONDO:0006796 hypertensive encephalopathy skos:exactMatch DOID:9427 hypertensive encephalopathy semapv:UnspecifiedMatching MONDO:0006796 hypertensive encephalopathy skos:exactMatch EFO:1000976 semapv:UnspecifiedMatching MONDO:0006796 hypertensive encephalopathy skos:exactMatch ICD10CM:I67.4 Hypertensive encephalopathy semapv:UnspecifiedMatching MONDO:0006796 hypertensive encephalopathy skos:exactMatch MEDGEN:57726 semapv:UnspecifiedMatching MONDO:0006796 hypertensive encephalopathy skos:exactMatch NCIT:C3503 Hypertensive Encephalopathy semapv:UnspecifiedMatching MONDO:0006796 hypertensive encephalopathy skos:exactMatch SCTID:50490005 semapv:UnspecifiedMatching MONDO:0006796 hypertensive encephalopathy skos:exactMatch UMLS:C0151620 semapv:UnspecifiedMatching MONDO:0006796 hypertensive encephalopathy skos:exactMatch icd11.foundation:1934215896 Hypertensive encephalopathy semapv:UnspecifiedMatching MONDO:0006796 hypertensive encephalopathy skos:exactMatch mesh:D020343 semapv:UnspecifiedMatching MONDO:0006797 hypertensive retinopathy skos:exactMatch DOID:11561 hypertensive retinopathy semapv:UnspecifiedMatching MONDO:0006797 hypertensive retinopathy skos:exactMatch EFO:1000977 semapv:UnspecifiedMatching MONDO:0006797 hypertensive retinopathy skos:exactMatch ICD10CM:H35.03 Hypertensive retinopathy semapv:UnspecifiedMatching MONDO:0006797 hypertensive retinopathy skos:exactMatch MEDGEN:101819 semapv:UnspecifiedMatching MONDO:0006797 hypertensive retinopathy skos:exactMatch NCIT:C3514 Hypertensive Retinopathy semapv:UnspecifiedMatching MONDO:0006797 hypertensive retinopathy skos:exactMatch SCTID:6962006 semapv:UnspecifiedMatching MONDO:0006797 hypertensive retinopathy skos:exactMatch UMLS:C0152132 semapv:UnspecifiedMatching MONDO:0006797 hypertensive retinopathy skos:exactMatch icd11.foundation:218513628 Hypertensive retinopathy semapv:UnspecifiedMatching MONDO:0006797 hypertensive retinopathy skos:exactMatch mesh:D058437 semapv:UnspecifiedMatching MONDO:0006798 hypervitaminosis A skos:exactMatch DOID:9972 hypervitaminosis A semapv:UnspecifiedMatching MONDO:0006798 hypervitaminosis A skos:exactMatch EFO:1000978 semapv:UnspecifiedMatching MONDO:0006798 hypervitaminosis A skos:exactMatch ICD10CM:E67.0 Hypervitaminosis A semapv:UnspecifiedMatching MONDO:0006798 hypervitaminosis A skos:exactMatch MEDGEN:9378 semapv:UnspecifiedMatching MONDO:0006798 hypervitaminosis A skos:exactMatch SCTID:64559002 semapv:UnspecifiedMatching MONDO:0006798 hypervitaminosis A skos:exactMatch UMLS:C0020579 semapv:UnspecifiedMatching MONDO:0006798 hypervitaminosis A skos:exactMatch icd11.foundation:1465667896 Hypervitaminosis A semapv:UnspecifiedMatching MONDO:0006798 hypervitaminosis A skos:exactMatch mesh:D006986 semapv:UnspecifiedMatching MONDO:0006799 hypothalamic neoplasm skos:exactMatch DOID:3644 hypothalamic neoplasm semapv:UnspecifiedMatching MONDO:0006799 hypothalamic neoplasm skos:exactMatch EFO:1000979 semapv:UnspecifiedMatching MONDO:0006799 hypothalamic neoplasm skos:exactMatch MEDGEN:5717 semapv:UnspecifiedMatching MONDO:0006799 hypothalamic neoplasm skos:exactMatch NCIT:C3129 Hypothalamic Neoplasm semapv:UnspecifiedMatching MONDO:0006799 hypothalamic neoplasm skos:exactMatch SCTID:254968009 semapv:UnspecifiedMatching MONDO:0006799 hypothalamic neoplasm skos:exactMatch UMLS:C0020659 semapv:UnspecifiedMatching MONDO:0006799 hypothalamic neoplasm skos:exactMatch icd11.foundation:1383549237 Hypothalamic neoplasm semapv:UnspecifiedMatching MONDO:0006799 hypothalamic neoplasm skos:exactMatch mesh:D007029 semapv:UnspecifiedMatching MONDO:0006800 ideomotor apraxia skos:exactMatch DOID:4627 ideomotor apraxia semapv:UnspecifiedMatching MONDO:0006800 ideomotor apraxia skos:exactMatch EFO:1000980 semapv:UnspecifiedMatching MONDO:0006800 ideomotor apraxia skos:exactMatch MEDGEN:115961 semapv:UnspecifiedMatching MONDO:0006800 ideomotor apraxia skos:exactMatch SCTID:229706001 semapv:UnspecifiedMatching MONDO:0006800 ideomotor apraxia skos:exactMatch UMLS:C0234523 semapv:UnspecifiedMatching MONDO:0006800 ideomotor apraxia skos:exactMatch mesh:D020240 semapv:UnspecifiedMatching MONDO:0006801 ileal neoplasm skos:exactMatch DOID:10156 benign ileal neoplasm semapv:UnspecifiedMatching MONDO:0006801 ileal neoplasm skos:exactMatch EFO:1000981 semapv:UnspecifiedMatching MONDO:0006801 ileal neoplasm skos:exactMatch MEDGEN:43825 semapv:UnspecifiedMatching MONDO:0006801 ileal neoplasm skos:exactMatch NCIT:C3130 Ileal Neoplasm semapv:UnspecifiedMatching MONDO:0006801 ileal neoplasm skos:exactMatch SCTID:126835002 semapv:UnspecifiedMatching MONDO:0006801 ileal neoplasm skos:exactMatch UMLS:C0020876 semapv:UnspecifiedMatching MONDO:0006801 ileal neoplasm skos:exactMatch mesh:D007078 semapv:UnspecifiedMatching MONDO:0006802 inappropriate ADH syndrome skos:exactMatch DOID:3401 inappropriate ADH syndrome semapv:UnspecifiedMatching MONDO:0006802 inappropriate ADH syndrome skos:exactMatch EFO:1000982 semapv:UnspecifiedMatching MONDO:0006802 inappropriate ADH syndrome skos:exactMatch ICD10CM:E22.2 Syndrome of inappropriate secretion of antidiuretic hormone semapv:UnspecifiedMatching MONDO:0006802 inappropriate ADH syndrome skos:exactMatch MEDGEN:5772 semapv:UnspecifiedMatching MONDO:0006802 inappropriate ADH syndrome skos:exactMatch NCIT:C3988 Syndrome of Inappropriate Antidiuretic Hormone Secretion semapv:UnspecifiedMatching MONDO:0006802 inappropriate ADH syndrome skos:exactMatch SCTID:55004003 semapv:UnspecifiedMatching MONDO:0006802 inappropriate ADH syndrome skos:exactMatch UMLS:C0021141 semapv:UnspecifiedMatching MONDO:0006802 inappropriate ADH syndrome skos:exactMatch mesh:D007177 semapv:UnspecifiedMatching MONDO:0006803 inferior myocardial infarction skos:exactMatch DOID:5850 inferior myocardial infarction semapv:UnspecifiedMatching MONDO:0006803 inferior myocardial infarction skos:exactMatch EFO:1000983 semapv:UnspecifiedMatching MONDO:0006803 inferior myocardial infarction skos:exactMatch MEDGEN:83305 semapv:UnspecifiedMatching MONDO:0006803 inferior myocardial infarction skos:exactMatch UMLS:C0340305 semapv:UnspecifiedMatching MONDO:0006803 inferior myocardial infarction skos:exactMatch mesh:D056989 semapv:UnspecifiedMatching MONDO:0006804 inflammatory breast carcinoma skos:exactMatch DOID:6263 inflammatory breast carcinoma semapv:UnspecifiedMatching MONDO:0006804 inflammatory breast carcinoma skos:exactMatch EFO:1000984 semapv:UnspecifiedMatching MONDO:0006804 inflammatory breast carcinoma skos:exactMatch MEDGEN:75841 semapv:UnspecifiedMatching MONDO:0006804 inflammatory breast carcinoma skos:exactMatch NCIT:C4001 Breast Inflammatory Carcinoma semapv:UnspecifiedMatching MONDO:0006804 inflammatory breast carcinoma skos:exactMatch Orphanet:694963 Inflammatory breast cancer semapv:UnspecifiedMatching MONDO:0006804 inflammatory breast carcinoma skos:exactMatch SCTID:254840009 semapv:UnspecifiedMatching MONDO:0006804 inflammatory breast carcinoma skos:exactMatch UMLS:C0278601 semapv:UnspecifiedMatching MONDO:0006804 inflammatory breast carcinoma skos:exactMatch mesh:D058922 semapv:UnspecifiedMatching MONDO:0006805 intermediate coronary syndrome skos:exactMatch DOID:8805 intermediate coronary syndrome semapv:UnspecifiedMatching MONDO:0006805 intermediate coronary syndrome skos:exactMatch EFO:1000985 semapv:UnspecifiedMatching MONDO:0006805 intermediate coronary syndrome skos:exactMatch ICD10CM:I20.0 Unstable angina semapv:UnspecifiedMatching MONDO:0006805 intermediate coronary syndrome skos:exactMatch MEDGEN:296 semapv:UnspecifiedMatching MONDO:0006805 intermediate coronary syndrome skos:exactMatch UMLS:C0002965 semapv:UnspecifiedMatching MONDO:0006805 intermediate coronary syndrome skos:exactMatch icd11.foundation:253490233 Unstable angina semapv:UnspecifiedMatching MONDO:0006805 intermediate coronary syndrome skos:exactMatch mesh:D000789 semapv:UnspecifiedMatching MONDO:0006806 intermediate uveitis skos:exactMatch DOID:12732 intermediate uveitis semapv:UnspecifiedMatching MONDO:0006806 intermediate uveitis skos:exactMatch EFO:1000986 semapv:UnspecifiedMatching MONDO:0006806 intermediate uveitis skos:exactMatch MEDGEN:22596 semapv:UnspecifiedMatching MONDO:0006806 intermediate uveitis skos:exactMatch NCIT:C35110 Intermediate Uveitis semapv:UnspecifiedMatching MONDO:0006806 intermediate uveitis skos:exactMatch Orphanet:279914 Intermediate uveitis semapv:UnspecifiedMatching MONDO:0006806 intermediate uveitis skos:exactMatch SCTID:314429009 semapv:UnspecifiedMatching MONDO:0006806 intermediate uveitis skos:exactMatch UMLS:C0042166 semapv:UnspecifiedMatching MONDO:0006806 intermediate uveitis skos:exactMatch icd11.foundation:892860325 Intermediate uveitis semapv:UnspecifiedMatching MONDO:0006806 intermediate uveitis skos:exactMatch mesh:D015867 semapv:UnspecifiedMatching MONDO:0006807 intestinal perforation skos:exactMatch DOID:2074 intestinal perforation semapv:UnspecifiedMatching MONDO:0006807 intestinal perforation skos:exactMatch EFO:1000987 semapv:UnspecifiedMatching MONDO:0006807 intestinal perforation skos:exactMatch MEDGEN:9525 semapv:UnspecifiedMatching MONDO:0006807 intestinal perforation skos:exactMatch NCIT:C39611 Intestinal Perforation semapv:UnspecifiedMatching MONDO:0006807 intestinal perforation skos:exactMatch SCTID:56905009 semapv:UnspecifiedMatching MONDO:0006807 intestinal perforation skos:exactMatch UMLS:C0021845 semapv:UnspecifiedMatching MONDO:0006807 intestinal perforation skos:exactMatch mesh:D007416 semapv:UnspecifiedMatching MONDO:0006808 intracranial arterial disease skos:exactMatch DOID:13089 intracranial arterial disease semapv:UnspecifiedMatching MONDO:0006808 intracranial arterial disease skos:exactMatch EFO:1000990 semapv:UnspecifiedMatching MONDO:0006808 intracranial arterial disease skos:exactMatch MEDGEN:199819 semapv:UnspecifiedMatching MONDO:0006808 intracranial arterial disease skos:exactMatch UMLS:C0752138 semapv:UnspecifiedMatching MONDO:0006808 intracranial arterial disease skos:exactMatch mesh:D020765 semapv:UnspecifiedMatching MONDO:0006809 intracranial embolism skos:exactMatch DOID:4372 intracranial embolism semapv:UnspecifiedMatching MONDO:0006809 intracranial embolism skos:exactMatch EFO:1000991 semapv:UnspecifiedMatching MONDO:0006809 intracranial embolism skos:exactMatch MEDGEN:155710 semapv:UnspecifiedMatching MONDO:0006809 intracranial embolism skos:exactMatch SCTID:75543006 semapv:UnspecifiedMatching MONDO:0006809 intracranial embolism skos:exactMatch UMLS:C0752140 semapv:UnspecifiedMatching MONDO:0006809 intracranial embolism skos:exactMatch icd11.foundation:816982857 semapv:UnspecifiedMatching MONDO:0006809 intracranial embolism skos:exactMatch mesh:D020766 semapv:UnspecifiedMatching MONDO:0006810 intracranial hypertension skos:exactMatch DOID:9428 intracranial hypertension semapv:UnspecifiedMatching MONDO:0006810 intracranial hypertension skos:exactMatch EFO:1000992 semapv:UnspecifiedMatching MONDO:0006810 intracranial hypertension skos:exactMatch MEDGEN:56241 semapv:UnspecifiedMatching MONDO:0006810 intracranial hypertension skos:exactMatch UMLS:C0151740 semapv:UnspecifiedMatching MONDO:0006810 intracranial hypertension skos:exactMatch mesh:D019586 semapv:UnspecifiedMatching MONDO:0006811 intracranial hypotension skos:exactMatch DOID:4723 intracranial hypotension semapv:UnspecifiedMatching MONDO:0006811 intracranial hypotension skos:exactMatch EFO:1000993 semapv:UnspecifiedMatching MONDO:0006811 intracranial hypotension skos:exactMatch ICD10CM:G96.81 Intracranial hypotension semapv:UnspecifiedMatching MONDO:0006811 intracranial hypotension skos:exactMatch MEDGEN:141851 semapv:UnspecifiedMatching MONDO:0006811 intracranial hypotension skos:exactMatch SCTID:433691000124104 semapv:UnspecifiedMatching MONDO:0006811 intracranial hypotension skos:exactMatch UMLS:C0524812 semapv:UnspecifiedMatching MONDO:0006811 intracranial hypotension skos:exactMatch icd11.foundation:363695674 Intracranial hypotension semapv:UnspecifiedMatching MONDO:0006811 intracranial hypotension skos:exactMatch mesh:D019585 semapv:UnspecifiedMatching MONDO:0006812 intracranial vasospasm skos:exactMatch DOID:13100 intracranial vasospasm semapv:UnspecifiedMatching MONDO:0006812 intracranial vasospasm skos:exactMatch EFO:1000994 semapv:UnspecifiedMatching MONDO:0006812 intracranial vasospasm skos:exactMatch MEDGEN:199760 semapv:UnspecifiedMatching MONDO:0006812 intracranial vasospasm skos:exactMatch UMLS:C0751895 semapv:UnspecifiedMatching MONDO:0006812 intracranial vasospasm skos:exactMatch mesh:D020301 semapv:UnspecifiedMatching MONDO:0006813 intradermal nevus skos:exactMatch EFO:1000995 semapv:UnspecifiedMatching MONDO:0006813 intradermal nevus skos:exactMatch MEDGEN:61670 semapv:UnspecifiedMatching MONDO:0006813 intradermal nevus skos:exactMatch NCIT:C3804 Dermal Nevus semapv:UnspecifiedMatching MONDO:0006813 intradermal nevus skos:exactMatch SCTID:302838006 semapv:UnspecifiedMatching MONDO:0006813 intradermal nevus skos:exactMatch UMLS:C0206737 semapv:UnspecifiedMatching MONDO:0006813 intradermal nevus skos:exactMatch mesh:D018330 semapv:UnspecifiedMatching MONDO:0006814 iritis skos:exactMatch DOID:1406 iritis semapv:UnspecifiedMatching MONDO:0006814 iritis skos:exactMatch EFO:1000997 semapv:UnspecifiedMatching MONDO:0006814 iritis skos:exactMatch MEDGEN:7160 semapv:UnspecifiedMatching MONDO:0006814 iritis skos:exactMatch NCIT:C50621 Iritis semapv:UnspecifiedMatching MONDO:0006814 iritis skos:exactMatch SCTID:65074000 semapv:UnspecifiedMatching MONDO:0006814 iritis skos:exactMatch UMLS:C0022081 semapv:UnspecifiedMatching MONDO:0006814 iritis skos:exactMatch mesh:D007500 semapv:UnspecifiedMatching MONDO:0006815 jejunal cancer skos:exactMatch DOID:13499 jejunal cancer semapv:UnspecifiedMatching MONDO:0006815 jejunal cancer skos:exactMatch EFO:1000998 semapv:UnspecifiedMatching MONDO:0006815 jejunal cancer skos:exactMatch ICD10CM:C17.1 Malignant neoplasm of jejunum semapv:UnspecifiedMatching MONDO:0006815 jejunal cancer skos:exactMatch MEDGEN:56302 semapv:UnspecifiedMatching MONDO:0006815 jejunal cancer skos:exactMatch NCIT:C170919 Malignant Jejunal Neoplasm semapv:UnspecifiedMatching MONDO:0006815 jejunal cancer skos:exactMatch SCTID:363404008 semapv:UnspecifiedMatching MONDO:0006815 jejunal cancer skos:exactMatch UMLS:C0153427 semapv:UnspecifiedMatching MONDO:0006815 jejunal cancer skos:exactMatch icd11.foundation:1044568664 Malignant neoplasm of jejunum semapv:UnspecifiedMatching MONDO:0006816 arthropathy skos:exactMatch DOID:381 arthropathy semapv:UnspecifiedMatching MONDO:0006816 arthropathy skos:exactMatch EFO:1000999 semapv:UnspecifiedMatching MONDO:0006816 arthropathy skos:exactMatch MEDGEN:7190 semapv:UnspecifiedMatching MONDO:0006816 arthropathy skos:exactMatch NCIT:C35760 Arthropathy semapv:UnspecifiedMatching MONDO:0006816 arthropathy skos:exactMatch SCTID:399269003 semapv:UnspecifiedMatching MONDO:0006816 arthropathy skos:exactMatch UMLS:C0022408 semapv:UnspecifiedMatching MONDO:0006816 arthropathy skos:exactMatch mesh:D007592 semapv:UnspecifiedMatching MONDO:0006817 juxtacortical osteosarcoma skos:exactMatch DOID:3373 parosteal osteosarcoma semapv:UnspecifiedMatching MONDO:0006817 juxtacortical osteosarcoma skos:exactMatch EFO:1001000 semapv:UnspecifiedMatching MONDO:0006817 juxtacortical osteosarcoma skos:exactMatch MEDGEN:60197 semapv:UnspecifiedMatching MONDO:0006817 juxtacortical osteosarcoma skos:exactMatch NCIT:C8969 Parosteal Osteosarcoma semapv:UnspecifiedMatching MONDO:0006817 juxtacortical osteosarcoma skos:exactMatch UMLS:C0206642 semapv:UnspecifiedMatching MONDO:0006817 juxtacortical osteosarcoma skos:exactMatch mesh:D018217 semapv:UnspecifiedMatching MONDO:0006820 kidney cortex necrosis skos:exactMatch DOID:2973 kidney cortex necrosis semapv:UnspecifiedMatching MONDO:0006820 kidney cortex necrosis skos:exactMatch MEDGEN:9634 semapv:UnspecifiedMatching MONDO:0006820 kidney cortex necrosis skos:exactMatch SCTID:444691002 semapv:UnspecifiedMatching MONDO:0006820 kidney cortex necrosis skos:exactMatch UMLS:C0022656 semapv:UnspecifiedMatching MONDO:0006820 kidney cortex necrosis skos:exactMatch mesh:D007673 semapv:UnspecifiedMatching MONDO:0006821 kidney papillary necrosis skos:exactMatch DOID:2981 kidney papillary necrosis semapv:UnspecifiedMatching MONDO:0006821 kidney papillary necrosis skos:exactMatch MEDGEN:7212 semapv:UnspecifiedMatching MONDO:0006821 kidney papillary necrosis skos:exactMatch SCTID:90241004 semapv:UnspecifiedMatching MONDO:0006821 kidney papillary necrosis skos:exactMatch UMLS:C0022667 semapv:UnspecifiedMatching MONDO:0006821 kidney papillary necrosis skos:exactMatch mesh:D007681 semapv:UnspecifiedMatching MONDO:0006823 Klinefelter syndrome skos:exactMatch DOID:1921 Klinefelter syndrome semapv:UnspecifiedMatching MONDO:0006823 Klinefelter syndrome skos:exactMatch EFO:1001006 semapv:UnspecifiedMatching MONDO:0006823 Klinefelter syndrome skos:exactMatch MEDGEN:44033 semapv:UnspecifiedMatching MONDO:0006823 Klinefelter syndrome skos:exactMatch NCIT:C34752 Klinefelter Syndrome semapv:UnspecifiedMatching MONDO:0006823 Klinefelter syndrome skos:exactMatch SCTID:405769009 semapv:UnspecifiedMatching MONDO:0006823 Klinefelter syndrome skos:exactMatch UMLS:C0022735 semapv:UnspecifiedMatching MONDO:0006823 Klinefelter syndrome skos:exactMatch icd11.foundation:1937385304 Klinefelter syndrome semapv:UnspecifiedMatching MONDO:0006823 Klinefelter syndrome skos:exactMatch mesh:D007713 semapv:UnspecifiedMatching MONDO:0006824 Krebs 2 carcinoma skos:exactMatch EFO:1001007 semapv:UnspecifiedMatching MONDO:0006824 Krebs 2 carcinoma skos:exactMatch MEDGEN:2842 semapv:UnspecifiedMatching MONDO:0006824 Krebs 2 carcinoma skos:exactMatch UMLS:C0007128 semapv:UnspecifiedMatching MONDO:0006824 Krebs 2 carcinoma skos:exactMatch mesh:D002287 semapv:UnspecifiedMatching MONDO:0006825 kuru skos:exactMatch DOID:648 kuru semapv:UnspecifiedMatching MONDO:0006825 kuru skos:exactMatch EFO:1001008 semapv:UnspecifiedMatching MONDO:0006825 kuru skos:exactMatch ICD10CM:A81.81 Kuru semapv:UnspecifiedMatching MONDO:0006825 kuru skos:exactMatch MEDGEN:9653 semapv:UnspecifiedMatching MONDO:0006825 kuru skos:exactMatch Orphanet:454745 Kuru semapv:UnspecifiedMatching MONDO:0006825 kuru skos:exactMatch SCTID:86188000 semapv:UnspecifiedMatching MONDO:0006825 kuru skos:exactMatch UMLS:C0022802 semapv:UnspecifiedMatching MONDO:0006825 kuru skos:exactMatch icd11.foundation:553889510 Kuru semapv:UnspecifiedMatching MONDO:0006825 kuru skos:exactMatch mesh:D007729 semapv:UnspecifiedMatching MONDO:0006826 kwashiorkor skos:exactMatch DOID:13579 kwashiorkor semapv:UnspecifiedMatching MONDO:0006826 kwashiorkor skos:exactMatch EFO:1001009 semapv:UnspecifiedMatching MONDO:0006826 kwashiorkor skos:exactMatch ICD10CM:E40 Kwashiorkor semapv:UnspecifiedMatching MONDO:0006826 kwashiorkor skos:exactMatch ICD10WHO:E40 Kwashiorkor semapv:UnspecifiedMatching MONDO:0006826 kwashiorkor skos:exactMatch MEDGEN:7233 semapv:UnspecifiedMatching MONDO:0006826 kwashiorkor skos:exactMatch SCTID:58262005 semapv:UnspecifiedMatching MONDO:0006826 kwashiorkor skos:exactMatch UMLS:C0022806 semapv:UnspecifiedMatching MONDO:0006826 kwashiorkor skos:exactMatch icd11.foundation:1656486805 Kwashiorkor semapv:UnspecifiedMatching MONDO:0006826 kwashiorkor skos:exactMatch mesh:D007732 semapv:UnspecifiedMatching MONDO:0006827 lateral medullary syndrome skos:exactMatch DOID:3522 lateral medullary syndrome semapv:UnspecifiedMatching MONDO:0006827 lateral medullary syndrome skos:exactMatch EFO:1001011 semapv:UnspecifiedMatching MONDO:0006827 lateral medullary syndrome skos:exactMatch MEDGEN:53057 semapv:UnspecifiedMatching MONDO:0006827 lateral medullary syndrome skos:exactMatch NCIT:C84807 Lateral Medullary Syndrome semapv:UnspecifiedMatching MONDO:0006827 lateral medullary syndrome skos:exactMatch SCTID:78569004 semapv:UnspecifiedMatching MONDO:0006827 lateral medullary syndrome skos:exactMatch UMLS:C0043019 semapv:UnspecifiedMatching MONDO:0006827 lateral medullary syndrome skos:exactMatch icd11.foundation:1569228344 Posterior inferior cerebellar artery syndrome semapv:UnspecifiedMatching MONDO:0006827 lateral medullary syndrome skos:exactMatch icd11.foundation:1606151456 Lateral medullary syndrome semapv:UnspecifiedMatching MONDO:0006827 lateral medullary syndrome skos:exactMatch mesh:D014854 semapv:UnspecifiedMatching MONDO:0006828 nasal cavity and paranasal sinus lethal midline granuloma skos:exactMatch DOID:9072 lethal midline granuloma semapv:UnspecifiedMatching MONDO:0006828 nasal cavity and paranasal sinus lethal midline granuloma skos:exactMatch EFO:1001013 semapv:UnspecifiedMatching MONDO:0006828 nasal cavity and paranasal sinus lethal midline granuloma skos:exactMatch MEDGEN:42292 semapv:UnspecifiedMatching MONDO:0006828 nasal cavity and paranasal sinus lethal midline granuloma skos:exactMatch NCIT:C8196 Nasal Cavity and Paranasal Sinus Lethal Midline Granuloma semapv:UnspecifiedMatching MONDO:0006828 nasal cavity and paranasal sinus lethal midline granuloma skos:exactMatch UMLS:C0018197 semapv:UnspecifiedMatching MONDO:0006828 nasal cavity and paranasal sinus lethal midline granuloma skos:exactMatch mesh:D006103 semapv:UnspecifiedMatching MONDO:0006829 leukemoid reaction skos:exactMatch EFO:1001014 semapv:UnspecifiedMatching MONDO:0006829 leukemoid reaction skos:exactMatch ICD10CM:D72.823 Leukemoid reaction semapv:UnspecifiedMatching MONDO:0006829 leukemoid reaction skos:exactMatch MEDGEN:44129 semapv:UnspecifiedMatching MONDO:0006829 leukemoid reaction skos:exactMatch SCTID:56478004 semapv:UnspecifiedMatching MONDO:0006829 leukemoid reaction skos:exactMatch UMLS:C0023501 semapv:UnspecifiedMatching MONDO:0006829 leukemoid reaction skos:exactMatch mesh:D007955 semapv:UnspecifiedMatching MONDO:0006830 leukoplakia of penis skos:exactMatch DOID:8738 leukoplakia of penis semapv:UnspecifiedMatching MONDO:0006830 leukoplakia of penis skos:exactMatch ICD10CM:N48.0 Leukoplakia of penis semapv:UnspecifiedMatching MONDO:0006830 leukoplakia of penis skos:exactMatch MEDGEN:44036 semapv:UnspecifiedMatching MONDO:0006830 leukoplakia of penis skos:exactMatch NCIT:C3151 Penile Leukoplakia semapv:UnspecifiedMatching MONDO:0006830 leukoplakia of penis skos:exactMatch SCTID:3323003 semapv:UnspecifiedMatching MONDO:0006830 leukoplakia of penis skos:exactMatch UMLS:C0022782 semapv:UnspecifiedMatching MONDO:0006831 leukostasis skos:exactMatch DOID:12986 leukostasis semapv:UnspecifiedMatching MONDO:0006831 leukostasis skos:exactMatch EFO:1001016 semapv:UnspecifiedMatching MONDO:0006831 leukostasis skos:exactMatch MEDGEN:84394 semapv:UnspecifiedMatching MONDO:0006831 leukostasis skos:exactMatch UMLS:C0282548 semapv:UnspecifiedMatching MONDO:0006831 leukostasis skos:exactMatch mesh:D018921 semapv:UnspecifiedMatching MONDO:0006833 lingual goiter skos:exactMatch DOID:13196 lingual goiter semapv:UnspecifiedMatching MONDO:0006833 lingual goiter skos:exactMatch MEDGEN:75766 semapv:UnspecifiedMatching MONDO:0006833 lingual goiter skos:exactMatch SCTID:75667007 semapv:UnspecifiedMatching MONDO:0006833 lingual goiter skos:exactMatch UMLS:C0271760 semapv:UnspecifiedMatching MONDO:0006833 lingual goiter skos:exactMatch mesh:D047268 semapv:UnspecifiedMatching MONDO:0006834 lip cancer skos:exactMatch DOID:8564 lip cancer semapv:UnspecifiedMatching MONDO:0006834 lip cancer skos:exactMatch EFO:1001019 semapv:UnspecifiedMatching MONDO:0006834 lip cancer skos:exactMatch ICD10CM:C00 Malignant neoplasm of lip semapv:UnspecifiedMatching MONDO:0006834 lip cancer skos:exactMatch MEDGEN:57548 semapv:UnspecifiedMatching MONDO:0006834 lip cancer skos:exactMatch NCIT:C7485 Malignant Lip Neoplasm semapv:UnspecifiedMatching MONDO:0006834 lip cancer skos:exactMatch SCTID:187622006 semapv:UnspecifiedMatching MONDO:0006834 lip cancer skos:exactMatch UMLS:C0153340 semapv:UnspecifiedMatching MONDO:0006834 lip cancer skos:exactMatch icd11.foundation:304997495 Malignant neoplasms of lip semapv:UnspecifiedMatching MONDO:0006834 lip cancer skos:exactMatch mesh:D008048 semapv:UnspecifiedMatching MONDO:0006835 lipoid nephrosis skos:exactMatch DOID:10966 lipoid nephrosis semapv:UnspecifiedMatching MONDO:0006835 lipoid nephrosis skos:exactMatch EFO:1001020 semapv:UnspecifiedMatching MONDO:0006835 lipoid nephrosis skos:exactMatch MEDGEN:10307 semapv:UnspecifiedMatching MONDO:0006835 lipoid nephrosis skos:exactMatch NCIT:C34844 Minimal Change Glomerulonephritis semapv:UnspecifiedMatching MONDO:0006835 lipoid nephrosis skos:exactMatch SCTID:44785005 semapv:UnspecifiedMatching MONDO:0006835 lipoid nephrosis skos:exactMatch UMLS:C0027721 semapv:UnspecifiedMatching MONDO:0006835 lipoid nephrosis skos:exactMatch mesh:D009402 semapv:UnspecifiedMatching MONDO:0006836 Listeria meningitis skos:exactMatch DOID:11572 Listeria meningitis semapv:UnspecifiedMatching MONDO:0006836 Listeria meningitis skos:exactMatch EFO:1001021 semapv:UnspecifiedMatching MONDO:0006836 Listeria meningitis skos:exactMatch MEDGEN:7536 semapv:UnspecifiedMatching MONDO:0006836 Listeria meningitis skos:exactMatch SCTID:31568009 semapv:UnspecifiedMatching MONDO:0006836 Listeria meningitis skos:exactMatch UMLS:C0025293 semapv:UnspecifiedMatching MONDO:0006836 Listeria meningitis skos:exactMatch mesh:D008584 semapv:UnspecifiedMatching MONDO:0006837 low tension glaucoma skos:exactMatch DOID:13544 low tension glaucoma semapv:UnspecifiedMatching MONDO:0006837 low tension glaucoma skos:exactMatch EFO:1001022 semapv:UnspecifiedMatching MONDO:0006837 low tension glaucoma skos:exactMatch MEDGEN:56263 semapv:UnspecifiedMatching MONDO:0006837 low tension glaucoma skos:exactMatch SCTID:50485007 semapv:UnspecifiedMatching MONDO:0006837 low tension glaucoma skos:exactMatch UMLS:C0152136 semapv:UnspecifiedMatching MONDO:0006837 low tension glaucoma skos:exactMatch mesh:D057066 semapv:UnspecifiedMatching MONDO:0006838 lupus vulgaris skos:exactMatch EFO:1001023 semapv:UnspecifiedMatching MONDO:0006838 lupus vulgaris skos:exactMatch MEDGEN:9821 semapv:UnspecifiedMatching MONDO:0006838 lupus vulgaris skos:exactMatch SCTID:10528009 semapv:UnspecifiedMatching MONDO:0006838 lupus vulgaris skos:exactMatch UMLS:C0024131 semapv:UnspecifiedMatching MONDO:0006838 lupus vulgaris skos:exactMatch icd11.foundation:1292667822 Lupus vulgaris semapv:UnspecifiedMatching MONDO:0006838 lupus vulgaris skos:exactMatch mesh:D008177 semapv:UnspecifiedMatching MONDO:0006839 Lutembacher syndrome skos:exactMatch DOID:1998 Lutembacher's syndrome semapv:UnspecifiedMatching MONDO:0006839 Lutembacher syndrome skos:exactMatch MEDGEN:9825 semapv:UnspecifiedMatching MONDO:0006839 Lutembacher syndrome skos:exactMatch SCTID:204319006 semapv:UnspecifiedMatching MONDO:0006839 Lutembacher syndrome skos:exactMatch UMLS:C0024164 semapv:UnspecifiedMatching MONDO:0006839 Lutembacher syndrome skos:exactMatch mesh:D008185 semapv:UnspecifiedMatching MONDO:0006840 lymphangiectasis skos:exactMatch EFO:1001025 semapv:UnspecifiedMatching MONDO:0006840 lymphangiectasis skos:exactMatch MEDGEN:9827 semapv:UnspecifiedMatching MONDO:0006840 lymphangiectasis skos:exactMatch NCIT:C97087 Lymphangiectasia semapv:UnspecifiedMatching MONDO:0006840 lymphangiectasis skos:exactMatch UMLS:C0024214 semapv:UnspecifiedMatching MONDO:0006840 lymphangiectasis skos:exactMatch mesh:D008200 semapv:UnspecifiedMatching MONDO:0006841 lymphangioendothelioma skos:exactMatch EFO:1001026 semapv:UnspecifiedMatching MONDO:0006841 lymphangioendothelioma skos:exactMatch MEDGEN:7411 semapv:UnspecifiedMatching MONDO:0006841 lymphangioendothelioma skos:exactMatch NCIT:C3203 Acquired Progressive Lymphangioma semapv:UnspecifiedMatching MONDO:0006841 lymphangioendothelioma skos:exactMatch SCTID:403975006 semapv:UnspecifiedMatching MONDO:0006841 lymphangioendothelioma skos:exactMatch UMLS:C0024217 semapv:UnspecifiedMatching MONDO:0006842 lymphangiomyoma skos:exactMatch EFO:1001027 semapv:UnspecifiedMatching MONDO:0006842 lymphangiomyoma skos:exactMatch MEDGEN:44216 semapv:UnspecifiedMatching MONDO:0006842 lymphangiomyoma skos:exactMatch NCIT:C3204 Lymphangioleiomyoma semapv:UnspecifiedMatching MONDO:0006842 lymphangiomyoma skos:exactMatch UMLS:C0024223 semapv:UnspecifiedMatching MONDO:0006842 lymphangiomyoma skos:exactMatch mesh:D008203 semapv:UnspecifiedMatching MONDO:0006843 macular holes skos:exactMatch DOID:7633 macular holes semapv:UnspecifiedMatching MONDO:0006843 macular holes skos:exactMatch EFO:1001028 semapv:UnspecifiedMatching MONDO:0006843 macular holes skos:exactMatch MEDGEN:6176 semapv:UnspecifiedMatching MONDO:0006843 macular holes skos:exactMatch NCIT:C34795 Macular Hole semapv:UnspecifiedMatching MONDO:0006843 macular holes skos:exactMatch SCTID:232006002 semapv:UnspecifiedMatching MONDO:0006843 macular holes skos:exactMatch UMLS:C0024441 semapv:UnspecifiedMatching MONDO:0006844 magnesium deficiency skos:exactMatch EFO:1001029 semapv:UnspecifiedMatching MONDO:0006844 magnesium deficiency skos:exactMatch ICD10CM:E61.2 Magnesium deficiency semapv:UnspecifiedMatching MONDO:0006844 magnesium deficiency skos:exactMatch MEDGEN:44244 semapv:UnspecifiedMatching MONDO:0006844 magnesium deficiency skos:exactMatch SCTID:238118002 semapv:UnspecifiedMatching MONDO:0006844 magnesium deficiency skos:exactMatch UMLS:C0024473 semapv:UnspecifiedMatching MONDO:0006844 magnesium deficiency skos:exactMatch mesh:D008275 semapv:UnspecifiedMatching MONDO:0006845 male genital tuberculosis skos:exactMatch MEDGEN:52886 semapv:UnspecifiedMatching MONDO:0006845 male genital tuberculosis skos:exactMatch SCTID:240379005 semapv:UnspecifiedMatching MONDO:0006845 male genital tuberculosis skos:exactMatch UMLS:C0041317 semapv:UnspecifiedMatching MONDO:0006845 male genital tuberculosis skos:exactMatch mesh:D014389 semapv:UnspecifiedMatching MONDO:0006846 malignant hypertension skos:exactMatch DOID:10824 malignant hypertension semapv:UnspecifiedMatching MONDO:0006846 malignant hypertension skos:exactMatch EFO:1001031 semapv:UnspecifiedMatching MONDO:0006846 malignant hypertension skos:exactMatch MEDGEN:9374 semapv:UnspecifiedMatching MONDO:0006846 malignant hypertension skos:exactMatch SCTID:70272006 semapv:UnspecifiedMatching MONDO:0006846 malignant hypertension skos:exactMatch UMLS:C0020540 semapv:UnspecifiedMatching MONDO:0006846 malignant hypertension skos:exactMatch mesh:D006974 semapv:UnspecifiedMatching MONDO:0006848 marasmus skos:exactMatch DOID:12328 marasmus semapv:UnspecifiedMatching MONDO:0006848 marasmus skos:exactMatch EFO:1001033 semapv:UnspecifiedMatching MONDO:0006848 marasmus skos:exactMatch ICD10CM:E41 Nutritional marasmus semapv:UnspecifiedMatching MONDO:0006848 marasmus skos:exactMatch MEDGEN:39251 semapv:UnspecifiedMatching MONDO:0006848 marasmus skos:exactMatch SCTID:29740003 semapv:UnspecifiedMatching MONDO:0006848 marasmus skos:exactMatch UMLS:C0086588 semapv:UnspecifiedMatching MONDO:0006849 mastitis skos:exactMatch DOID:10690 mastitis semapv:UnspecifiedMatching MONDO:0006849 mastitis skos:exactMatch EFO:1001034 semapv:UnspecifiedMatching MONDO:0006849 mastitis skos:exactMatch MEDGEN:9901 semapv:UnspecifiedMatching MONDO:0006849 mastitis skos:exactMatch NCIT:C53662 Mastitis semapv:UnspecifiedMatching MONDO:0006849 mastitis skos:exactMatch SCTID:45198002 semapv:UnspecifiedMatching MONDO:0006849 mastitis skos:exactMatch UMLS:C0024894 semapv:UnspecifiedMatching MONDO:0006849 mastitis skos:exactMatch mesh:D008413 semapv:UnspecifiedMatching MONDO:0006850 maxillary sinus neoplasm skos:exactMatch DOID:1358 maxillary sinus benign neoplasm semapv:UnspecifiedMatching MONDO:0006850 maxillary sinus neoplasm skos:exactMatch EFO:1001035 semapv:UnspecifiedMatching MONDO:0006850 maxillary sinus neoplasm skos:exactMatch MEDGEN:6247 semapv:UnspecifiedMatching MONDO:0006850 maxillary sinus neoplasm skos:exactMatch NCIT:C3219 Maxillary Sinus Neoplasm semapv:UnspecifiedMatching MONDO:0006850 maxillary sinus neoplasm skos:exactMatch SCTID:126676009 semapv:UnspecifiedMatching MONDO:0006850 maxillary sinus neoplasm skos:exactMatch UMLS:C0024958 semapv:UnspecifiedMatching MONDO:0006850 maxillary sinus neoplasm skos:exactMatch mesh:D008444 semapv:UnspecifiedMatching MONDO:0006851 meconium aspiration syndrome skos:exactMatch DOID:11049 meconium aspiration syndrome semapv:UnspecifiedMatching MONDO:0006851 meconium aspiration syndrome skos:exactMatch EFO:1001037 semapv:UnspecifiedMatching MONDO:0006851 meconium aspiration syndrome skos:exactMatch ICD10CM:P24.0 Meconium aspiration semapv:UnspecifiedMatching MONDO:0006851 meconium aspiration syndrome skos:exactMatch MEDGEN:6258 semapv:UnspecifiedMatching MONDO:0006851 meconium aspiration syndrome skos:exactMatch NCIT:C87093 Meconium Aspiration Syndrome semapv:UnspecifiedMatching MONDO:0006851 meconium aspiration syndrome skos:exactMatch Orphanet:70588 Meconium aspiration syndrome semapv:UnspecifiedMatching MONDO:0006851 meconium aspiration syndrome skos:exactMatch SCTID:206292002 semapv:UnspecifiedMatching MONDO:0006851 meconium aspiration syndrome skos:exactMatch UMLS:C0025048 semapv:UnspecifiedMatching MONDO:0006851 meconium aspiration syndrome skos:exactMatch icd11.foundation:872221482 Neonatal aspiration of meconium semapv:UnspecifiedMatching MONDO:0006851 meconium aspiration syndrome skos:exactMatch mesh:D008471 semapv:UnspecifiedMatching MONDO:0006853 mesenchymal chondrosarcoma skos:exactMatch DOID:4545 mesenchymal chondrosarcoma semapv:UnspecifiedMatching MONDO:0006853 mesenchymal chondrosarcoma skos:exactMatch EFO:1001041 semapv:UnspecifiedMatching MONDO:0006853 mesenchymal chondrosarcoma skos:exactMatch MEDGEN:104904 semapv:UnspecifiedMatching MONDO:0006853 mesenchymal chondrosarcoma skos:exactMatch NCIT:C3737 Mesenchymal Chondrosarcoma semapv:UnspecifiedMatching MONDO:0006853 mesenchymal chondrosarcoma skos:exactMatch UMLS:C0206637 semapv:UnspecifiedMatching MONDO:0006853 mesenchymal chondrosarcoma skos:exactMatch mesh:D018211 semapv:UnspecifiedMatching MONDO:0006854 mesenchymoma skos:exactMatch DOID:2668 mesenchymoma semapv:UnspecifiedMatching MONDO:0006854 mesenchymoma skos:exactMatch EFO:1001042 semapv:UnspecifiedMatching MONDO:0006854 mesenchymoma skos:exactMatch MEDGEN:7553 semapv:UnspecifiedMatching MONDO:0006854 mesenchymoma skos:exactMatch NCIT:C3233 Mesenchymoma semapv:UnspecifiedMatching MONDO:0006854 mesenchymoma skos:exactMatch UMLS:C0025464 semapv:UnspecifiedMatching MONDO:0006854 mesenchymoma skos:exactMatch mesh:D008637 semapv:UnspecifiedMatching MONDO:0006855 mesenteric vascular occlusion skos:exactMatch DOID:13252 mesenteric vascular occlusion semapv:UnspecifiedMatching MONDO:0006855 mesenteric vascular occlusion skos:exactMatch EFO:1001043 semapv:UnspecifiedMatching MONDO:0006855 mesenteric vascular occlusion skos:exactMatch MEDGEN:9972 semapv:UnspecifiedMatching MONDO:0006855 mesenteric vascular occlusion skos:exactMatch UMLS:C0025472 semapv:UnspecifiedMatching MONDO:0006855 mesenteric vascular occlusion skos:exactMatch mesh:D008641 semapv:UnspecifiedMatching MONDO:0006856 mesothelial neoplasm skos:exactMatch EFO:1001044 semapv:UnspecifiedMatching MONDO:0006856 mesothelial neoplasm skos:exactMatch MEDGEN:811450 semapv:UnspecifiedMatching MONDO:0006856 mesothelial neoplasm skos:exactMatch NCIT:C3786 Mesothelial Neoplasm semapv:UnspecifiedMatching MONDO:0006856 mesothelial neoplasm skos:exactMatch UMLS:C3714739 semapv:UnspecifiedMatching MONDO:0006856 mesothelial neoplasm skos:exactMatch mesh:D018301 semapv:UnspecifiedMatching MONDO:0006857 middle cerebral artery infarction skos:exactMatch DOID:3525 middle cerebral artery infarction semapv:UnspecifiedMatching MONDO:0006857 middle cerebral artery infarction skos:exactMatch EFO:1001045 semapv:UnspecifiedMatching MONDO:0006857 middle cerebral artery infarction skos:exactMatch MEDGEN:152845 semapv:UnspecifiedMatching MONDO:0006857 middle cerebral artery infarction skos:exactMatch UMLS:C0740392 semapv:UnspecifiedMatching MONDO:0006857 middle cerebral artery infarction skos:exactMatch mesh:D020244 semapv:UnspecifiedMatching MONDO:0006858 mouth disorder skos:exactMatch DOID:403 mouth disease semapv:UnspecifiedMatching MONDO:0006858 mouth disorder skos:exactMatch EFO:1001047 semapv:UnspecifiedMatching MONDO:0006858 mouth disorder skos:exactMatch MEDGEN:6448 semapv:UnspecifiedMatching MONDO:0006858 mouth disorder skos:exactMatch NCIT:C3240 Oral Disorder semapv:UnspecifiedMatching MONDO:0006858 mouth disorder skos:exactMatch SCTID:118938008 semapv:UnspecifiedMatching MONDO:0006858 mouth disorder skos:exactMatch UMLS:C0026636 semapv:UnspecifiedMatching MONDO:0006858 mouth disorder skos:exactMatch mesh:D009059 semapv:UnspecifiedMatching MONDO:0006859 mucinous cystadenoma skos:exactMatch EFO:1001048 semapv:UnspecifiedMatching MONDO:0006859 mucinous cystadenoma skos:exactMatch MEDGEN:8222 semapv:UnspecifiedMatching MONDO:0006859 mucinous cystadenoma skos:exactMatch NCIT:C2973 Mucinous Cystadenoma semapv:UnspecifiedMatching MONDO:0006859 mucinous cystadenoma skos:exactMatch UMLS:C0010635 semapv:UnspecifiedMatching MONDO:0006859 mucinous cystadenoma skos:exactMatch mesh:D018291 semapv:UnspecifiedMatching MONDO:0006861 myeloid sarcoma skos:exactMatch DOID:8683 myeloid sarcoma semapv:UnspecifiedMatching MONDO:0006861 myeloid sarcoma skos:exactMatch EFO:1001052 semapv:UnspecifiedMatching MONDO:0006861 myeloid sarcoma skos:exactMatch ICD10CM:C92.3 Myeloid sarcoma semapv:UnspecifiedMatching MONDO:0006861 myeloid sarcoma skos:exactMatch MEDGEN:1656669 semapv:UnspecifiedMatching MONDO:0006861 myeloid sarcoma skos:exactMatch NCIT:C3520 Myeloid Sarcoma semapv:UnspecifiedMatching MONDO:0006861 myeloid sarcoma skos:exactMatch Orphanet:86850 Myeloid sarcoma semapv:UnspecifiedMatching MONDO:0006861 myeloid sarcoma skos:exactMatch UMLS:C4721505 semapv:UnspecifiedMatching MONDO:0006861 myeloid sarcoma skos:exactMatch icd11.foundation:1988933820 Myeloid sarcoma semapv:UnspecifiedMatching MONDO:0006861 myeloid sarcoma skos:exactMatch icd11.foundation:921720320 semapv:UnspecifiedMatching MONDO:0006861 myeloid sarcoma skos:exactMatch mesh:D023981 semapv:UnspecifiedMatching MONDO:0006862 myofascial pain syndrome skos:exactMatch DOID:431 myofascial pain syndrome semapv:UnspecifiedMatching MONDO:0006862 myofascial pain syndrome skos:exactMatch EFO:1001054 semapv:UnspecifiedMatching MONDO:0006862 myofascial pain syndrome skos:exactMatch MEDGEN:6496 semapv:UnspecifiedMatching MONDO:0006862 myofascial pain syndrome skos:exactMatch SCTID:24693007 semapv:UnspecifiedMatching MONDO:0006862 myofascial pain syndrome skos:exactMatch UMLS:C0027073 semapv:UnspecifiedMatching MONDO:0006862 myofascial pain syndrome skos:exactMatch mesh:D009209 semapv:UnspecifiedMatching MONDO:0006863 myxosarcoma skos:exactMatch DOID:4136 myxosarcoma semapv:UnspecifiedMatching MONDO:0006863 myxosarcoma skos:exactMatch EFO:1001056 semapv:UnspecifiedMatching MONDO:0006863 myxosarcoma skos:exactMatch MEDGEN:6508 semapv:UnspecifiedMatching MONDO:0006863 myxosarcoma skos:exactMatch NCIT:C3255 Myxosarcoma semapv:UnspecifiedMatching MONDO:0006863 myxosarcoma skos:exactMatch UMLS:C0027155 semapv:UnspecifiedMatching MONDO:0006863 myxosarcoma skos:exactMatch mesh:D009236 semapv:UnspecifiedMatching MONDO:0006864 necrotizing sialometaplasia skos:exactMatch DOID:12901 necrotizing sialometaplasia semapv:UnspecifiedMatching MONDO:0006864 necrotizing sialometaplasia skos:exactMatch MEDGEN:48659 semapv:UnspecifiedMatching MONDO:0006864 necrotizing sialometaplasia skos:exactMatch SCTID:109769000 semapv:UnspecifiedMatching MONDO:0006864 necrotizing sialometaplasia skos:exactMatch UMLS:C0037033 semapv:UnspecifiedMatching MONDO:0006864 necrotizing sialometaplasia skos:exactMatch mesh:D012797 semapv:UnspecifiedMatching MONDO:0006865 necrotizing ulcerative gingivitis skos:exactMatch DOID:13924 necrotizing ulcerative gingivitis semapv:UnspecifiedMatching MONDO:0006865 necrotizing ulcerative gingivitis skos:exactMatch EFO:1001058 semapv:UnspecifiedMatching MONDO:0006865 necrotizing ulcerative gingivitis skos:exactMatch MEDGEN:42219 semapv:UnspecifiedMatching MONDO:0006865 necrotizing ulcerative gingivitis skos:exactMatch NCIT:C34637 Necrotizing Ulcerative Gingivitis semapv:UnspecifiedMatching MONDO:0006865 necrotizing ulcerative gingivitis skos:exactMatch SCTID:186963008 semapv:UnspecifiedMatching MONDO:0006865 necrotizing ulcerative gingivitis skos:exactMatch UMLS:C0017575 semapv:UnspecifiedMatching MONDO:0006865 necrotizing ulcerative gingivitis skos:exactMatch mesh:D005892 semapv:UnspecifiedMatching MONDO:0006866 neonatal myasthenia gravis skos:exactMatch DOID:14043 neonatal myasthenia gravis semapv:UnspecifiedMatching MONDO:0006866 neonatal myasthenia gravis skos:exactMatch MEDGEN:102360 semapv:UnspecifiedMatching MONDO:0006866 neonatal myasthenia gravis skos:exactMatch SCTID:82178003 semapv:UnspecifiedMatching MONDO:0006866 neonatal myasthenia gravis skos:exactMatch UMLS:C0158982 semapv:UnspecifiedMatching MONDO:0006866 neonatal myasthenia gravis skos:exactMatch icd11.foundation:1274860004 Neonatal myasthenia gravis semapv:UnspecifiedMatching MONDO:0006866 neonatal myasthenia gravis skos:exactMatch mesh:D020941 semapv:UnspecifiedMatching MONDO:0006868 neurogenic bowel skos:exactMatch DOID:13419 neurogenic bowel semapv:UnspecifiedMatching MONDO:0006868 neurogenic bowel skos:exactMatch MEDGEN:151969 semapv:UnspecifiedMatching MONDO:0006868 neurogenic bowel skos:exactMatch SCTID:425671009 semapv:UnspecifiedMatching MONDO:0006868 neurogenic bowel skos:exactMatch UMLS:C0695242 semapv:UnspecifiedMatching MONDO:0006868 neurogenic bowel skos:exactMatch mesh:D055496 semapv:UnspecifiedMatching MONDO:0006869 nodular goiter skos:exactMatch DOID:13197 nodular goiter semapv:UnspecifiedMatching MONDO:0006869 nodular goiter skos:exactMatch EFO:1001062 semapv:UnspecifiedMatching MONDO:0006869 nodular goiter skos:exactMatch MEDGEN:42271 semapv:UnspecifiedMatching MONDO:0006869 nodular goiter skos:exactMatch NCIT:C131437 Nodular Goiter semapv:UnspecifiedMatching MONDO:0006869 nodular goiter skos:exactMatch SCTID:419153005 semapv:UnspecifiedMatching MONDO:0006869 nodular goiter skos:exactMatch UMLS:C0018023 semapv:UnspecifiedMatching MONDO:0006869 nodular goiter skos:exactMatch mesh:D006044 semapv:UnspecifiedMatching MONDO:0006871 non-gestational choriocarcinoma skos:exactMatch DOID:4320 non-gestational choriocarcinoma semapv:UnspecifiedMatching MONDO:0006871 non-gestational choriocarcinoma skos:exactMatch EFO:1001064 semapv:UnspecifiedMatching MONDO:0006871 non-gestational choriocarcinoma skos:exactMatch MEDGEN:211656 semapv:UnspecifiedMatching MONDO:0006871 non-gestational choriocarcinoma skos:exactMatch UMLS:C1135873 semapv:UnspecifiedMatching MONDO:0006871 non-gestational choriocarcinoma skos:exactMatch mesh:D031954 semapv:UnspecifiedMatching MONDO:0006872 obsolete nut allergic reaction skos:exactMatch DOID:4379 nut allergy semapv:UnspecifiedMatching MONDO:0006872 obsolete nut allergic reaction skos:exactMatch SCTID:91934008 semapv:UnspecifiedMatching MONDO:0006872 obsolete nut allergic reaction skos:exactMatch mesh:D021184 semapv:UnspecifiedMatching MONDO:0006873 nutritional deficiency disease skos:exactMatch DOID:5113 nutritional deficiency disease semapv:UnspecifiedMatching MONDO:0006873 nutritional deficiency disease skos:exactMatch EFO:1001067 semapv:UnspecifiedMatching MONDO:0006873 nutritional deficiency disease skos:exactMatch ICD10CM:E40-E46 Malnutrition (E40-E46) semapv:UnspecifiedMatching MONDO:0006873 nutritional deficiency disease skos:exactMatch MEDGEN:1677627 semapv:UnspecifiedMatching MONDO:0006873 nutritional deficiency disease skos:exactMatch NCIT:C3669 Malnutrition semapv:UnspecifiedMatching MONDO:0006873 nutritional deficiency disease skos:exactMatch SCTID:363246002 semapv:UnspecifiedMatching MONDO:0006873 nutritional deficiency disease skos:exactMatch SCTID:70241007 semapv:UnspecifiedMatching MONDO:0006873 nutritional deficiency disease skos:exactMatch UMLS:C4761312 semapv:UnspecifiedMatching MONDO:0006873 nutritional deficiency disease skos:exactMatch mesh:D003677 semapv:UnspecifiedMatching MONDO:0006874 obstructive jaundice skos:exactMatch DOID:13603 obstructive jaundice semapv:UnspecifiedMatching MONDO:0006874 obstructive jaundice skos:exactMatch EFO:1001068 semapv:UnspecifiedMatching MONDO:0006874 obstructive jaundice skos:exactMatch MEDGEN:43988 semapv:UnspecifiedMatching MONDO:0006874 obstructive jaundice skos:exactMatch SCTID:44018007 semapv:UnspecifiedMatching MONDO:0006874 obstructive jaundice skos:exactMatch UMLS:C0022354 semapv:UnspecifiedMatching MONDO:0006874 obstructive jaundice skos:exactMatch mesh:D041781 semapv:UnspecifiedMatching MONDO:0006875 ocular hypertension skos:exactMatch DOID:9282 ocular hypertension semapv:UnspecifiedMatching MONDO:0006875 ocular hypertension skos:exactMatch EFO:1001069 semapv:UnspecifiedMatching MONDO:0006875 ocular hypertension skos:exactMatch ICD10CM:H40.05 Ocular hypertension semapv:UnspecifiedMatching MONDO:0006875 ocular hypertension skos:exactMatch MEDGEN:10423 semapv:UnspecifiedMatching MONDO:0006875 ocular hypertension skos:exactMatch SCTID:4210003 semapv:UnspecifiedMatching MONDO:0006875 ocular hypertension skos:exactMatch UMLS:C0028840 semapv:UnspecifiedMatching MONDO:0006875 ocular hypertension skos:exactMatch icd11.foundation:535283437 Ocular hypertension semapv:UnspecifiedMatching MONDO:0006875 ocular hypertension skos:exactMatch mesh:D009798 semapv:UnspecifiedMatching MONDO:0006876 ocular tuberculosis skos:exactMatch DOID:0070344 ocular tuberculosis semapv:UnspecifiedMatching MONDO:0006876 ocular tuberculosis skos:exactMatch EFO:1001070 semapv:UnspecifiedMatching MONDO:0006876 ocular tuberculosis skos:exactMatch MEDGEN:52887 semapv:UnspecifiedMatching MONDO:0006876 ocular tuberculosis skos:exactMatch SCTID:49107007 semapv:UnspecifiedMatching MONDO:0006876 ocular tuberculosis skos:exactMatch UMLS:C0041322 semapv:UnspecifiedMatching MONDO:0006876 ocular tuberculosis skos:exactMatch mesh:D014392 semapv:UnspecifiedMatching MONDO:0006877 oophoritis skos:exactMatch DOID:10974 oophoritis semapv:UnspecifiedMatching MONDO:0006877 oophoritis skos:exactMatch EFO:1001071 semapv:UnspecifiedMatching MONDO:0006877 oophoritis skos:exactMatch MEDGEN:14486 semapv:UnspecifiedMatching MONDO:0006877 oophoritis skos:exactMatch SCTID:76047005 semapv:UnspecifiedMatching MONDO:0006877 oophoritis skos:exactMatch UMLS:C0029051 semapv:UnspecifiedMatching MONDO:0006877 oophoritis skos:exactMatch mesh:D009869 semapv:UnspecifiedMatching MONDO:0006878 Moraxellaceae infectious disease skos:exactMatch EFO:1001072 semapv:UnspecifiedMatching MONDO:0006878 Moraxellaceae infectious disease skos:exactMatch mesh:D045828 semapv:UnspecifiedMatching MONDO:0006879 optic papillitis skos:exactMatch DOID:10175 optic papillitis semapv:UnspecifiedMatching MONDO:0006879 optic papillitis skos:exactMatch EFO:1001074 semapv:UnspecifiedMatching MONDO:0006879 optic papillitis skos:exactMatch ICD10CM:H46.0 Optic papillitis semapv:UnspecifiedMatching MONDO:0006879 optic papillitis skos:exactMatch MEDGEN:10565 semapv:UnspecifiedMatching MONDO:0006879 optic papillitis skos:exactMatch SCTID:73221001 semapv:UnspecifiedMatching MONDO:0006879 optic papillitis skos:exactMatch UMLS:C0030353 semapv:UnspecifiedMatching MONDO:0006879 optic papillitis skos:exactMatch mesh:D010211 semapv:UnspecifiedMatching MONDO:0006880 oral leukoedema skos:exactMatch DOID:4557 oral leukoedema semapv:UnspecifiedMatching MONDO:0006880 oral leukoedema skos:exactMatch MEDGEN:44132 semapv:UnspecifiedMatching MONDO:0006880 oral leukoedema skos:exactMatch SCTID:67795000 semapv:UnspecifiedMatching MONDO:0006880 oral leukoedema skos:exactMatch UMLS:C0023523 semapv:UnspecifiedMatching MONDO:0006880 oral leukoedema skos:exactMatch mesh:D007967 semapv:UnspecifiedMatching MONDO:0006881 orbital cellulitis skos:exactMatch DOID:11234 orbital cellulitis semapv:UnspecifiedMatching MONDO:0006881 orbital cellulitis skos:exactMatch EFO:1001076 semapv:UnspecifiedMatching MONDO:0006881 orbital cellulitis skos:exactMatch MEDGEN:57681 semapv:UnspecifiedMatching MONDO:0006881 orbital cellulitis skos:exactMatch NCIT:C99000 Orbital Cellulitis semapv:UnspecifiedMatching MONDO:0006881 orbital cellulitis skos:exactMatch SCTID:194005002 semapv:UnspecifiedMatching MONDO:0006881 orbital cellulitis skos:exactMatch UMLS:C0149507 semapv:UnspecifiedMatching MONDO:0006881 orbital cellulitis skos:exactMatch icd11.foundation:1330743591 Orbital cellulitis semapv:UnspecifiedMatching MONDO:0006881 orbital cellulitis skos:exactMatch mesh:D054517 semapv:UnspecifiedMatching MONDO:0006882 orchitis skos:exactMatch DOID:2518 orchitis semapv:UnspecifiedMatching MONDO:0006882 orchitis skos:exactMatch EFO:1001078 semapv:UnspecifiedMatching MONDO:0006882 orchitis skos:exactMatch ICD10CM:N45.2 Orchitis semapv:UnspecifiedMatching MONDO:0006882 orchitis skos:exactMatch MEDGEN:18191 semapv:UnspecifiedMatching MONDO:0006882 orchitis skos:exactMatch NCIT:C97145 Orchitis semapv:UnspecifiedMatching MONDO:0006882 orchitis skos:exactMatch SCTID:274718005 semapv:UnspecifiedMatching MONDO:0006882 orchitis skos:exactMatch UMLS:C0029191 semapv:UnspecifiedMatching MONDO:0006882 orchitis skos:exactMatch mesh:D009920 semapv:UnspecifiedMatching MONDO:0006883 malignant superior sulcus neoplasm skos:exactMatch DOID:8007 Pancoast tumor semapv:UnspecifiedMatching MONDO:0006883 malignant superior sulcus neoplasm skos:exactMatch EFO:1001080 semapv:UnspecifiedMatching MONDO:0006883 malignant superior sulcus neoplasm skos:exactMatch MEDGEN:107810 semapv:UnspecifiedMatching MONDO:0006883 malignant superior sulcus neoplasm skos:exactMatch NCIT:C7527 Malignant Superior Sulcus Neoplasm semapv:UnspecifiedMatching MONDO:0006883 malignant superior sulcus neoplasm skos:exactMatch SCTID:254638002 semapv:UnspecifiedMatching MONDO:0006883 malignant superior sulcus neoplasm skos:exactMatch UMLS:C0549471 semapv:UnspecifiedMatching MONDO:0006884 panophthalmitis skos:exactMatch DOID:13732 panophthalmitis semapv:UnspecifiedMatching MONDO:0006884 panophthalmitis skos:exactMatch ICD10CM:H44.01 Panophthalmitis (acute) semapv:UnspecifiedMatching MONDO:0006884 panophthalmitis skos:exactMatch MEDGEN:10561 semapv:UnspecifiedMatching MONDO:0006884 panophthalmitis skos:exactMatch SCTID:33382000 semapv:UnspecifiedMatching MONDO:0006884 panophthalmitis skos:exactMatch UMLS:C0030332 semapv:UnspecifiedMatching MONDO:0006884 panophthalmitis skos:exactMatch icd11.foundation:349386559 Panophthalmitis semapv:UnspecifiedMatching MONDO:0006884 panophthalmitis skos:exactMatch mesh:D010202 semapv:UnspecifiedMatching MONDO:0006886 thyroid gland papillary and follicular carcinoma skos:exactMatch EFO:1001083 semapv:UnspecifiedMatching MONDO:0006886 thyroid gland papillary and follicular carcinoma skos:exactMatch MEDGEN:64631 semapv:UnspecifiedMatching MONDO:0006886 thyroid gland papillary and follicular carcinoma skos:exactMatch NCIT:C7380 Thyroid Gland Papillary and Follicular Carcinoma semapv:UnspecifiedMatching MONDO:0006886 thyroid gland papillary and follicular carcinoma skos:exactMatch UMLS:C0206683 semapv:UnspecifiedMatching MONDO:0006886 thyroid gland papillary and follicular carcinoma skos:exactMatch mesh:D018265 semapv:UnspecifiedMatching MONDO:0006887 parametritis skos:exactMatch DOID:1260 parametritis semapv:UnspecifiedMatching MONDO:0006887 parametritis skos:exactMatch EFO:1001084 semapv:UnspecifiedMatching MONDO:0006887 parametritis skos:exactMatch MEDGEN:18295 semapv:UnspecifiedMatching MONDO:0006887 parametritis skos:exactMatch SCTID:280483007 semapv:UnspecifiedMatching MONDO:0006887 parametritis skos:exactMatch UMLS:C0030455 semapv:UnspecifiedMatching MONDO:0006887 parametritis skos:exactMatch mesh:D010249 semapv:UnspecifiedMatching MONDO:0006888 paraneoplastic polyneuropathy skos:exactMatch DOID:8681 paraneoplastic polyneuropathy semapv:UnspecifiedMatching MONDO:0006888 paraneoplastic polyneuropathy skos:exactMatch MEDGEN:124380 semapv:UnspecifiedMatching MONDO:0006888 paraneoplastic polyneuropathy skos:exactMatch NCIT:C3981 Paraneoplastic Polyneuropathy semapv:UnspecifiedMatching MONDO:0006888 paraneoplastic polyneuropathy skos:exactMatch SCTID:77659000 semapv:UnspecifiedMatching MONDO:0006888 paraneoplastic polyneuropathy skos:exactMatch UMLS:C0270932 semapv:UnspecifiedMatching MONDO:0006888 paraneoplastic polyneuropathy skos:exactMatch mesh:D020364 semapv:UnspecifiedMatching MONDO:0006889 paraphimosis skos:exactMatch DOID:5334 paraphimosis semapv:UnspecifiedMatching MONDO:0006889 paraphimosis skos:exactMatch EFO:1001086 semapv:UnspecifiedMatching MONDO:0006889 paraphimosis skos:exactMatch ICD10CM:N47.2 Paraphimosis semapv:UnspecifiedMatching MONDO:0006889 paraphimosis skos:exactMatch MEDGEN:14611 semapv:UnspecifiedMatching MONDO:0006889 paraphimosis skos:exactMatch NCIT:C34893 Paraphimosis semapv:UnspecifiedMatching MONDO:0006889 paraphimosis skos:exactMatch SCTID:13758004 semapv:UnspecifiedMatching MONDO:0006889 paraphimosis skos:exactMatch UMLS:C0030483 semapv:UnspecifiedMatching MONDO:0006889 paraphimosis skos:exactMatch icd11.foundation:452889019 Paraphimosis semapv:UnspecifiedMatching MONDO:0006889 paraphimosis skos:exactMatch mesh:D010263 semapv:UnspecifiedMatching MONDO:0006890 parathyroid gland adenoma skos:exactMatch DOID:7608 parathyroid adenoma semapv:UnspecifiedMatching MONDO:0006890 parathyroid gland adenoma skos:exactMatch EFO:1001087 semapv:UnspecifiedMatching MONDO:0006890 parathyroid gland adenoma skos:exactMatch MEDGEN:75502 semapv:UnspecifiedMatching MONDO:0006890 parathyroid gland adenoma skos:exactMatch NCIT:C156757 Parathyroid Gland Adenoma semapv:UnspecifiedMatching MONDO:0006890 parathyroid gland adenoma skos:exactMatch SCTID:128474007 semapv:UnspecifiedMatching MONDO:0006890 parathyroid gland adenoma skos:exactMatch UMLS:C0262587 semapv:UnspecifiedMatching MONDO:0006891 partial motor epilepsy skos:exactMatch DOID:3327 partial motor epilepsy semapv:UnspecifiedMatching MONDO:0006891 partial motor epilepsy skos:exactMatch EFO:1001089 semapv:UnspecifiedMatching MONDO:0006891 partial motor epilepsy skos:exactMatch MEDGEN:5237 semapv:UnspecifiedMatching MONDO:0006891 partial motor epilepsy skos:exactMatch SCTID:128612007 semapv:UnspecifiedMatching MONDO:0006891 partial motor epilepsy skos:exactMatch UMLS:C0016399 semapv:UnspecifiedMatching MONDO:0006891 partial motor epilepsy skos:exactMatch mesh:D020938 semapv:UnspecifiedMatching MONDO:0006892 partial sensory epilepsy skos:exactMatch DOID:3330 partial sensory epilepsy semapv:UnspecifiedMatching MONDO:0006892 partial sensory epilepsy skos:exactMatch MEDGEN:107460 semapv:UnspecifiedMatching MONDO:0006892 partial sensory epilepsy skos:exactMatch UMLS:C0544645 semapv:UnspecifiedMatching MONDO:0006892 partial sensory epilepsy skos:exactMatch mesh:D020937 semapv:UnspecifiedMatching MONDO:0006893 Pasteurella hemorrhagic septicemia skos:exactMatch EFO:1001091 semapv:UnspecifiedMatching MONDO:0006893 Pasteurella hemorrhagic septicemia skos:exactMatch SCTID:198462004 semapv:UnspecifiedMatching MONDO:0006893 Pasteurella hemorrhagic septicemia skos:exactMatch mesh:D006483 semapv:UnspecifiedMatching MONDO:0006894 patellofemoral pain syndrome skos:exactMatch DOID:14284 patellofemoral pain syndrome semapv:UnspecifiedMatching MONDO:0006894 patellofemoral pain syndrome skos:exactMatch EFO:1001092 semapv:UnspecifiedMatching MONDO:0006894 patellofemoral pain syndrome skos:exactMatch MEDGEN:164080 semapv:UnspecifiedMatching MONDO:0006894 patellofemoral pain syndrome skos:exactMatch SCTID:430725003 semapv:UnspecifiedMatching MONDO:0006894 patellofemoral pain syndrome skos:exactMatch UMLS:C0877149 semapv:UnspecifiedMatching MONDO:0006894 patellofemoral pain syndrome skos:exactMatch mesh:D046788 semapv:UnspecifiedMatching MONDO:0006895 penile neoplasm skos:exactMatch DOID:11624 penile benign neoplasm semapv:UnspecifiedMatching MONDO:0006895 penile neoplasm skos:exactMatch EFO:1001094 semapv:UnspecifiedMatching MONDO:0006895 penile neoplasm skos:exactMatch MEDGEN:14656 semapv:UnspecifiedMatching MONDO:0006895 penile neoplasm skos:exactMatch NCIT:C3317 Penile Neoplasm semapv:UnspecifiedMatching MONDO:0006895 penile neoplasm skos:exactMatch SCTID:126896003 semapv:UnspecifiedMatching MONDO:0006895 penile neoplasm skos:exactMatch UMLS:C0030849 semapv:UnspecifiedMatching MONDO:0006895 penile neoplasm skos:exactMatch mesh:D010412 semapv:UnspecifiedMatching MONDO:0006896 peptic esophagitis skos:exactMatch DOID:13976 peptic esophagitis semapv:UnspecifiedMatching MONDO:0006896 peptic esophagitis skos:exactMatch EFO:1001095 semapv:UnspecifiedMatching MONDO:0006896 peptic esophagitis skos:exactMatch MEDGEN:5028 semapv:UnspecifiedMatching MONDO:0006896 peptic esophagitis skos:exactMatch SCTID:57643001 semapv:UnspecifiedMatching MONDO:0006896 peptic esophagitis skos:exactMatch UMLS:C0014869 semapv:UnspecifiedMatching MONDO:0006896 peptic esophagitis skos:exactMatch mesh:D004942 semapv:UnspecifiedMatching MONDO:0006897 periapical granuloma skos:exactMatch DOID:4617 periapical granuloma semapv:UnspecifiedMatching MONDO:0006897 periapical granuloma skos:exactMatch EFO:1001096 semapv:UnspecifiedMatching MONDO:0006897 periapical granuloma skos:exactMatch MEDGEN:45395 semapv:UnspecifiedMatching MONDO:0006897 periapical granuloma skos:exactMatch SCTID:81407003 semapv:UnspecifiedMatching MONDO:0006897 periapical granuloma skos:exactMatch UMLS:C0031029 semapv:UnspecifiedMatching MONDO:0006897 periapical granuloma skos:exactMatch mesh:D010484 semapv:UnspecifiedMatching MONDO:0006898 periarthritis skos:exactMatch DOID:2964 periarthritis semapv:UnspecifiedMatching MONDO:0006898 periarthritis skos:exactMatch EFO:1001097 semapv:UnspecifiedMatching MONDO:0006898 periarthritis skos:exactMatch MEDGEN:45397 semapv:UnspecifiedMatching MONDO:0006898 periarthritis skos:exactMatch SCTID:50921008 semapv:UnspecifiedMatching MONDO:0006898 periarthritis skos:exactMatch UMLS:C0031037 semapv:UnspecifiedMatching MONDO:0006898 periarthritis skos:exactMatch mesh:D010489 semapv:UnspecifiedMatching MONDO:0006899 pericoronitis skos:exactMatch DOID:3671 pericoronitis semapv:UnspecifiedMatching MONDO:0006899 pericoronitis skos:exactMatch EFO:1001098 semapv:UnspecifiedMatching MONDO:0006899 pericoronitis skos:exactMatch MEDGEN:45399 semapv:UnspecifiedMatching MONDO:0006899 pericoronitis skos:exactMatch SCTID:22240003 semapv:UnspecifiedMatching MONDO:0006899 pericoronitis skos:exactMatch UMLS:C0031055 semapv:UnspecifiedMatching MONDO:0006899 pericoronitis skos:exactMatch icd11.foundation:1764886525 Pericoronitis semapv:UnspecifiedMatching MONDO:0006899 pericoronitis skos:exactMatch mesh:D010497 semapv:UnspecifiedMatching MONDO:0006900 perinephritis skos:exactMatch DOID:2982 perinephritis semapv:UnspecifiedMatching MONDO:0006900 perinephritis skos:exactMatch EFO:1001099 semapv:UnspecifiedMatching MONDO:0006900 perinephritis skos:exactMatch MEDGEN:10656 semapv:UnspecifiedMatching MONDO:0006900 perinephritis skos:exactMatch SCTID:111404004 semapv:UnspecifiedMatching MONDO:0006900 perinephritis skos:exactMatch UMLS:C0031065 semapv:UnspecifiedMatching MONDO:0006900 perinephritis skos:exactMatch mesh:D010501 semapv:UnspecifiedMatching MONDO:0006901 peritoneal neoplasm skos:exactMatch EFO:1001100 semapv:UnspecifiedMatching MONDO:0006901 peritoneal neoplasm skos:exactMatch MEDGEN:18392 semapv:UnspecifiedMatching MONDO:0006901 peritoneal neoplasm skos:exactMatch NCIT:C3322 Peritoneal Neoplasm semapv:UnspecifiedMatching MONDO:0006901 peritoneal neoplasm skos:exactMatch SCTID:126865007 semapv:UnspecifiedMatching MONDO:0006901 peritoneal neoplasm skos:exactMatch UMLS:C0031149 semapv:UnspecifiedMatching MONDO:0006901 peritoneal neoplasm skos:exactMatch mesh:D010534 semapv:UnspecifiedMatching MONDO:0006903 peroneal nerve paralysis skos:exactMatch DOID:6925 peroneal nerve paralysis semapv:UnspecifiedMatching MONDO:0006903 peroneal nerve paralysis skos:exactMatch EFO:1001102 semapv:UnspecifiedMatching MONDO:0006903 peroneal nerve paralysis skos:exactMatch MEDGEN:78733 semapv:UnspecifiedMatching MONDO:0006903 peroneal nerve paralysis skos:exactMatch NCIT:C27061 Peroneal Nerve Paralysis semapv:UnspecifiedMatching MONDO:0006903 peroneal nerve paralysis skos:exactMatch SCTID:399088004 semapv:UnspecifiedMatching MONDO:0006903 peroneal nerve paralysis skos:exactMatch UMLS:C0270810 semapv:UnspecifiedMatching MONDO:0006904 phimosis skos:exactMatch DOID:2712 phimosis semapv:UnspecifiedMatching MONDO:0006904 phimosis skos:exactMatch EFO:1001104 semapv:UnspecifiedMatching MONDO:0006904 phimosis skos:exactMatch ICD10CM:N47.1 Phimosis semapv:UnspecifiedMatching MONDO:0006904 phimosis skos:exactMatch MEDGEN:87496 semapv:UnspecifiedMatching MONDO:0006904 phimosis skos:exactMatch NCIT:C26852 Phimosis semapv:UnspecifiedMatching MONDO:0006904 phimosis skos:exactMatch SCTID:449826002 semapv:UnspecifiedMatching MONDO:0006904 phimosis skos:exactMatch UMLS:C0345326 semapv:UnspecifiedMatching MONDO:0006904 phimosis skos:exactMatch icd11.foundation:184957512 Phimosis semapv:UnspecifiedMatching MONDO:0006904 phimosis skos:exactMatch mesh:D010688 semapv:UnspecifiedMatching MONDO:0006905 pigmented spindle cell nevus skos:exactMatch MEDGEN:105378 semapv:UnspecifiedMatching MONDO:0006905 pigmented spindle cell nevus skos:exactMatch NCIT:C4751 Cutaneous Pigmented Spindle Cell Nevus semapv:UnspecifiedMatching MONDO:0006905 pigmented spindle cell nevus skos:exactMatch SCTID:254812004 semapv:UnspecifiedMatching MONDO:0006905 pigmented spindle cell nevus skos:exactMatch UMLS:C0474967 semapv:UnspecifiedMatching MONDO:0006905 pigmented spindle cell nevus skos:exactMatch mesh:D018331 semapv:UnspecifiedMatching MONDO:0006907 pilar sheath acanthoma skos:exactMatch DOID:4322 pilar sheath acanthoma semapv:UnspecifiedMatching MONDO:0006907 pilar sheath acanthoma skos:exactMatch MEDGEN:83398 semapv:UnspecifiedMatching MONDO:0006907 pilar sheath acanthoma skos:exactMatch NCIT:C4468 Pilar Sheath Acanthoma semapv:UnspecifiedMatching MONDO:0006907 pilar sheath acanthoma skos:exactMatch SCTID:254693008 semapv:UnspecifiedMatching MONDO:0006907 pilar sheath acanthoma skos:exactMatch UMLS:C0346005 semapv:UnspecifiedMatching MONDO:0006907 pilar sheath acanthoma skos:exactMatch icd11.foundation:281473034 Pilar sheath acanthoma semapv:UnspecifiedMatching MONDO:0006908 pituitary apoplexy skos:exactMatch DOID:1129 pituitary apoplexy semapv:UnspecifiedMatching MONDO:0006908 pituitary apoplexy skos:exactMatch EFO:1001108 semapv:UnspecifiedMatching MONDO:0006908 pituitary apoplexy skos:exactMatch MEDGEN:18489 semapv:UnspecifiedMatching MONDO:0006908 pituitary apoplexy skos:exactMatch NCIT:C26853 Pituitary Gland Apoplexy semapv:UnspecifiedMatching MONDO:0006908 pituitary apoplexy skos:exactMatch Orphanet:95613 Pituitary apoplexy semapv:UnspecifiedMatching MONDO:0006908 pituitary apoplexy skos:exactMatch SCTID:237701005 semapv:UnspecifiedMatching MONDO:0006908 pituitary apoplexy skos:exactMatch UMLS:C0032001 semapv:UnspecifiedMatching MONDO:0006908 pituitary apoplexy skos:exactMatch icd11.foundation:1938573221 Pituitary apoplexy semapv:UnspecifiedMatching MONDO:0006908 pituitary apoplexy skos:exactMatch mesh:D010899 semapv:UnspecifiedMatching MONDO:0006909 pituitary dwarfism skos:exactMatch EFO:1001109 semapv:UnspecifiedMatching MONDO:0006909 pituitary dwarfism skos:exactMatch MEDGEN:8506 semapv:UnspecifiedMatching MONDO:0006909 pituitary dwarfism skos:exactMatch SCTID:367460001 semapv:UnspecifiedMatching MONDO:0006909 pituitary dwarfism skos:exactMatch UMLS:C0013338 semapv:UnspecifiedMatching MONDO:0006909 pituitary dwarfism skos:exactMatch mesh:D004393 semapv:UnspecifiedMatching MONDO:0006912 pneumatosis cystoides intestinalis skos:exactMatch DOID:13249 pneumatosis cystoides intestinalis semapv:UnspecifiedMatching MONDO:0006912 pneumatosis cystoides intestinalis skos:exactMatch EFO:1001113 semapv:UnspecifiedMatching MONDO:0006912 pneumatosis cystoides intestinalis skos:exactMatch MEDGEN:18527 semapv:UnspecifiedMatching MONDO:0006912 pneumatosis cystoides intestinalis skos:exactMatch SCTID:17465007 semapv:UnspecifiedMatching MONDO:0006912 pneumatosis cystoides intestinalis skos:exactMatch UMLS:C0032266 semapv:UnspecifiedMatching MONDO:0006912 pneumatosis cystoides intestinalis skos:exactMatch mesh:D011006 semapv:UnspecifiedMatching MONDO:0006913 pneumococcal meningitis skos:exactMatch EFO:1001114 semapv:UnspecifiedMatching MONDO:0006913 pneumococcal meningitis skos:exactMatch ICD10CM:G00.1 Pneumococcal meningitis semapv:UnspecifiedMatching MONDO:0006913 pneumococcal meningitis skos:exactMatch MEDGEN:44354 semapv:UnspecifiedMatching MONDO:0006913 pneumococcal meningitis skos:exactMatch NCIT:C157958 Pneumococcal Meningitis semapv:UnspecifiedMatching MONDO:0006913 pneumococcal meningitis skos:exactMatch Orphanet:55655 Pneumococcal meningitis semapv:UnspecifiedMatching MONDO:0006913 pneumococcal meningitis skos:exactMatch SCTID:51169003 semapv:UnspecifiedMatching MONDO:0006913 pneumococcal meningitis skos:exactMatch UMLS:C0025295 semapv:UnspecifiedMatching MONDO:0006913 pneumococcal meningitis skos:exactMatch mesh:D008586 semapv:UnspecifiedMatching MONDO:0006915 polyradiculoneuropathy skos:exactMatch DOID:4308 polyradiculoneuropathy semapv:UnspecifiedMatching MONDO:0006915 polyradiculoneuropathy skos:exactMatch EFO:1001116 semapv:UnspecifiedMatching MONDO:0006915 polyradiculoneuropathy skos:exactMatch MEDGEN:46012 semapv:UnspecifiedMatching MONDO:0006915 polyradiculoneuropathy skos:exactMatch SCTID:128078004 semapv:UnspecifiedMatching MONDO:0006915 polyradiculoneuropathy skos:exactMatch UMLS:C0032587 semapv:UnspecifiedMatching MONDO:0006915 polyradiculoneuropathy skos:exactMatch mesh:D011129 semapv:UnspecifiedMatching MONDO:0006916 postcholecystectomy syndrome skos:exactMatch DOID:9740 postcholecystectomy syndrome semapv:UnspecifiedMatching MONDO:0006916 postcholecystectomy syndrome skos:exactMatch EFO:1001117 semapv:UnspecifiedMatching MONDO:0006916 postcholecystectomy syndrome skos:exactMatch ICD10CM:K91.5 Postcholecystectomy syndrome semapv:UnspecifiedMatching MONDO:0006916 postcholecystectomy syndrome skos:exactMatch MEDGEN:101815 semapv:UnspecifiedMatching MONDO:0006916 postcholecystectomy syndrome skos:exactMatch SCTID:90782003 semapv:UnspecifiedMatching MONDO:0006916 postcholecystectomy syndrome skos:exactMatch UMLS:C0152099 semapv:UnspecifiedMatching MONDO:0006916 postcholecystectomy syndrome skos:exactMatch icd11.foundation:157319976 Postcholecystectomy syndrome semapv:UnspecifiedMatching MONDO:0006916 postcholecystectomy syndrome skos:exactMatch mesh:D017562 semapv:UnspecifiedMatching MONDO:0006917 posterior cerebral artery infarction skos:exactMatch DOID:3821 posterior cerebral artery infarction semapv:UnspecifiedMatching MONDO:0006917 posterior cerebral artery infarction skos:exactMatch EFO:1001118 semapv:UnspecifiedMatching MONDO:0006917 posterior cerebral artery infarction skos:exactMatch MEDGEN:199818 semapv:UnspecifiedMatching MONDO:0006917 posterior cerebral artery infarction skos:exactMatch UMLS:C0752132 semapv:UnspecifiedMatching MONDO:0006917 posterior cerebral artery infarction skos:exactMatch mesh:D020762 semapv:UnspecifiedMatching MONDO:0006918 posterior uveitis skos:exactMatch DOID:12574 posterior uveitis semapv:UnspecifiedMatching MONDO:0006918 posterior uveitis skos:exactMatch EFO:1001119 semapv:UnspecifiedMatching MONDO:0006918 posterior uveitis skos:exactMatch MEDGEN:22597 semapv:UnspecifiedMatching MONDO:0006918 posterior uveitis skos:exactMatch SCTID:43363007 semapv:UnspecifiedMatching MONDO:0006918 posterior uveitis skos:exactMatch UMLS:C0042167 semapv:UnspecifiedMatching MONDO:0006918 posterior uveitis skos:exactMatch mesh:D015866 semapv:UnspecifiedMatching MONDO:0006919 potassium deficiency skos:exactMatch EFO:1001120 semapv:UnspecifiedMatching MONDO:0006919 potassium deficiency skos:exactMatch MEDGEN:10874 semapv:UnspecifiedMatching MONDO:0006919 potassium deficiency skos:exactMatch UMLS:C0032827 semapv:UnspecifiedMatching MONDO:0006919 potassium deficiency skos:exactMatch mesh:D011191 semapv:UnspecifiedMatching MONDO:0006920 prediabetes syndrome skos:exactMatch DOID:11716 prediabetes syndrome semapv:UnspecifiedMatching MONDO:0006920 prediabetes syndrome skos:exactMatch EFO:1001121 semapv:UnspecifiedMatching MONDO:0006920 prediabetes syndrome skos:exactMatch MEDGEN:83928 semapv:UnspecifiedMatching MONDO:0006920 prediabetes syndrome skos:exactMatch NCIT:C122685 Prediabetes semapv:UnspecifiedMatching MONDO:0006920 prediabetes syndrome skos:exactMatch UMLS:C0362046 semapv:UnspecifiedMatching MONDO:0006920 prediabetes syndrome skos:exactMatch icd11.foundation:1583355636 Intermediate hyperglycaemia semapv:UnspecifiedMatching MONDO:0006920 prediabetes syndrome skos:exactMatch mesh:D011236 semapv:UnspecifiedMatching MONDO:0006921 Actinomycetales infectious disease skos:exactMatch EFO:1001122 semapv:UnspecifiedMatching MONDO:0006921 Actinomycetales infectious disease skos:exactMatch MEDGEN:1732 semapv:UnspecifiedMatching MONDO:0006921 Actinomycetales infectious disease skos:exactMatch NCIT:C84534 Actinomycetales Infection semapv:UnspecifiedMatching MONDO:0006921 Actinomycetales infectious disease skos:exactMatch SCTID:11817007 semapv:UnspecifiedMatching MONDO:0006921 Actinomycetales infectious disease skos:exactMatch SCTID:721751007 semapv:UnspecifiedMatching MONDO:0006921 Actinomycetales infectious disease skos:exactMatch UMLS:C0001255 semapv:UnspecifiedMatching MONDO:0006921 Actinomycetales infectious disease skos:exactMatch mesh:D000193 semapv:UnspecifiedMatching MONDO:0006922 Anaplasmataceae infectious disease skos:exactMatch SCTID:422167001 semapv:UnspecifiedMatching MONDO:0006922 Anaplasmataceae infectious disease skos:exactMatch mesh:D000711 semapv:UnspecifiedMatching MONDO:0006923 Bacillaceae infectious disease skos:exactMatch MEDGEN:39271 semapv:UnspecifiedMatching MONDO:0006923 Bacillaceae infectious disease skos:exactMatch UMLS:C0085389 semapv:UnspecifiedMatching MONDO:0006923 Bacillaceae infectious disease skos:exactMatch mesh:D016863 semapv:UnspecifiedMatching MONDO:0006924 Bartonellaceae infectious disease skos:exactMatch MEDGEN:2171 semapv:UnspecifiedMatching MONDO:0006924 Bartonellaceae infectious disease skos:exactMatch UMLS:C0004773 semapv:UnspecifiedMatching MONDO:0006924 Bartonellaceae infectious disease skos:exactMatch mesh:D001476 semapv:UnspecifiedMatching MONDO:0006925 Fusobacteriaceae infectious disease skos:exactMatch MEDGEN:263530 semapv:UnspecifiedMatching MONDO:0006925 Fusobacteriaceae infectious disease skos:exactMatch UMLS:C1258222 semapv:UnspecifiedMatching MONDO:0006925 Fusobacteriaceae infectious disease skos:exactMatch mesh:D045825 semapv:UnspecifiedMatching MONDO:0006926 haemophilus infectious disease skos:exactMatch EFO:1001127 semapv:UnspecifiedMatching MONDO:0006926 haemophilus infectious disease skos:exactMatch NCIT:C34654 Hemophilus Infection semapv:UnspecifiedMatching MONDO:0006926 haemophilus infectious disease skos:exactMatch SCTID:41659003 semapv:UnspecifiedMatching MONDO:0006926 haemophilus infectious disease skos:exactMatch mesh:D006192 semapv:UnspecifiedMatching MONDO:0006927 Rickettsiaceae infectious disease skos:exactMatch EFO:1001128 semapv:UnspecifiedMatching MONDO:0006927 Rickettsiaceae infectious disease skos:exactMatch mesh:D012288 semapv:UnspecifiedMatching MONDO:0006929 Proteus infectious disease skos:exactMatch MEDGEN:46164 semapv:UnspecifiedMatching MONDO:0006929 Proteus infectious disease skos:exactMatch SCTID:186437007 semapv:UnspecifiedMatching MONDO:0006929 Proteus infectious disease skos:exactMatch UMLS:C0033700 semapv:UnspecifiedMatching MONDO:0006929 Proteus infectious disease skos:exactMatch mesh:D011512 semapv:UnspecifiedMatching MONDO:0006930 pseudobulbar palsy skos:exactMatch DOID:12680 pseudobulbar palsy semapv:UnspecifiedMatching MONDO:0006930 pseudobulbar palsy skos:exactMatch EFO:1001131 semapv:UnspecifiedMatching MONDO:0006930 pseudobulbar palsy skos:exactMatch MEDGEN:10989 semapv:UnspecifiedMatching MONDO:0006930 pseudobulbar palsy skos:exactMatch NCIT:C129934 Pseudobulbar Palsy semapv:UnspecifiedMatching MONDO:0006930 pseudobulbar palsy skos:exactMatch SCTID:7379000 semapv:UnspecifiedMatching MONDO:0006930 pseudobulbar palsy skos:exactMatch UMLS:C0033790 semapv:UnspecifiedMatching MONDO:0006930 pseudobulbar palsy skos:exactMatch mesh:D020828 semapv:UnspecifiedMatching MONDO:0006931 pulmonary coin lesion skos:exactMatch DOID:5364 pulmonary coin lesion semapv:UnspecifiedMatching MONDO:0006931 pulmonary coin lesion skos:exactMatch MEDGEN:3522 semapv:UnspecifiedMatching MONDO:0006931 pulmonary coin lesion skos:exactMatch UMLS:C0009250 semapv:UnspecifiedMatching MONDO:0006931 pulmonary coin lesion skos:exactMatch mesh:D003074 semapv:UnspecifiedMatching MONDO:0006932 pulmonary edema skos:exactMatch DOID:11396 pulmonary edema semapv:UnspecifiedMatching MONDO:0006932 pulmonary edema skos:exactMatch EFO:1001134 semapv:UnspecifiedMatching MONDO:0006932 pulmonary edema skos:exactMatch ICD10CM:J81 Pulmonary edema semapv:UnspecifiedMatching MONDO:0006932 pulmonary edema skos:exactMatch MEDGEN:11026 semapv:UnspecifiedMatching MONDO:0006932 pulmonary edema skos:exactMatch NCIT:C26868 Pulmonary Edema semapv:UnspecifiedMatching MONDO:0006932 pulmonary edema skos:exactMatch SCTID:19242006 semapv:UnspecifiedMatching MONDO:0006932 pulmonary edema skos:exactMatch UMLS:C0034063 semapv:UnspecifiedMatching MONDO:0006932 pulmonary edema skos:exactMatch mesh:D011654 semapv:UnspecifiedMatching MONDO:0006933 pulmonary plasma cell granuloma skos:exactMatch DOID:3677 pulmonary plasma cell granuloma semapv:UnspecifiedMatching MONDO:0006933 pulmonary plasma cell granuloma skos:exactMatch MEDGEN:38832 semapv:UnspecifiedMatching MONDO:0006933 pulmonary plasma cell granuloma skos:exactMatch SCTID:1648002 semapv:UnspecifiedMatching MONDO:0006933 pulmonary plasma cell granuloma skos:exactMatch UMLS:C0085269 semapv:UnspecifiedMatching MONDO:0006933 pulmonary plasma cell granuloma skos:exactMatch icd11.foundation:215620908 Pulmonary plasma cell granuloma semapv:UnspecifiedMatching MONDO:0006933 pulmonary plasma cell granuloma skos:exactMatch mesh:D016726 semapv:UnspecifiedMatching MONDO:0006935 pulmonary subvalvular stenosis skos:exactMatch DOID:8861 pulmonary subvalvular stenosis semapv:UnspecifiedMatching MONDO:0006935 pulmonary subvalvular stenosis skos:exactMatch EFO:1001137 semapv:UnspecifiedMatching MONDO:0006935 pulmonary subvalvular stenosis skos:exactMatch ICD10CM:Q24.3 Pulmonary infundibular stenosis semapv:UnspecifiedMatching MONDO:0006935 pulmonary subvalvular stenosis skos:exactMatch MEDGEN:11030 semapv:UnspecifiedMatching MONDO:0006935 pulmonary subvalvular stenosis skos:exactMatch NCIT:C34961 Congenital Infundibular Stenosis semapv:UnspecifiedMatching MONDO:0006935 pulmonary subvalvular stenosis skos:exactMatch SCTID:204370002 semapv:UnspecifiedMatching MONDO:0006935 pulmonary subvalvular stenosis skos:exactMatch UMLS:C0034084 semapv:UnspecifiedMatching MONDO:0006935 pulmonary subvalvular stenosis skos:exactMatch mesh:D011662 semapv:UnspecifiedMatching MONDO:0006936 pulmonary valve stenosis skos:exactMatch DOID:6420 pulmonary valve stenosis semapv:UnspecifiedMatching MONDO:0006936 pulmonary valve stenosis skos:exactMatch EFO:1001138 semapv:UnspecifiedMatching MONDO:0006936 pulmonary valve stenosis skos:exactMatch MEDGEN:18768 semapv:UnspecifiedMatching MONDO:0006936 pulmonary valve stenosis skos:exactMatch UMLS:C0034089 semapv:UnspecifiedMatching MONDO:0006936 pulmonary valve stenosis skos:exactMatch icd11.foundation:611886666 Pulmonary valve stenosis semapv:UnspecifiedMatching MONDO:0006936 pulmonary valve stenosis skos:exactMatch mesh:D011666 semapv:UnspecifiedMatching MONDO:0006937 pulpitis skos:exactMatch DOID:11121 pulpitis semapv:UnspecifiedMatching MONDO:0006937 pulpitis skos:exactMatch EFO:1001139 semapv:UnspecifiedMatching MONDO:0006937 pulpitis skos:exactMatch ICD10CM:K04.0 Pulpitis semapv:UnspecifiedMatching MONDO:0006937 pulpitis skos:exactMatch MEDGEN:19580 semapv:UnspecifiedMatching MONDO:0006937 pulpitis skos:exactMatch SCTID:32620007 semapv:UnspecifiedMatching MONDO:0006937 pulpitis skos:exactMatch UMLS:C0034103 semapv:UnspecifiedMatching MONDO:0006937 pulpitis skos:exactMatch icd11.foundation:576344431 Pulpitis semapv:UnspecifiedMatching MONDO:0006937 pulpitis skos:exactMatch mesh:D011671 semapv:UnspecifiedMatching MONDO:0006938 pyelitis skos:exactMatch DOID:2744 pyelitis semapv:UnspecifiedMatching MONDO:0006938 pyelitis skos:exactMatch MEDGEN:48268 semapv:UnspecifiedMatching MONDO:0006938 pyelitis skos:exactMatch NCIT:C34964 Pyelitis semapv:UnspecifiedMatching MONDO:0006938 pyelitis skos:exactMatch SCTID:27174002 semapv:UnspecifiedMatching MONDO:0006938 pyelitis skos:exactMatch UMLS:C0034183 semapv:UnspecifiedMatching MONDO:0006938 pyelitis skos:exactMatch mesh:D011702 semapv:UnspecifiedMatching MONDO:0006939 pyelonephritis skos:exactMatch DOID:11400 pyelonephritis semapv:UnspecifiedMatching MONDO:0006939 pyelonephritis skos:exactMatch EFO:1001141 semapv:UnspecifiedMatching MONDO:0006939 pyelonephritis skos:exactMatch MEDGEN:19590 semapv:UnspecifiedMatching MONDO:0006939 pyelonephritis skos:exactMatch NCIT:C34965 Pyelonephritis semapv:UnspecifiedMatching MONDO:0006939 pyelonephritis skos:exactMatch SCTID:45816000 semapv:UnspecifiedMatching MONDO:0006939 pyelonephritis skos:exactMatch UMLS:C0034186 semapv:UnspecifiedMatching MONDO:0006939 pyelonephritis skos:exactMatch mesh:D011704 semapv:UnspecifiedMatching MONDO:0006940 radial nerve lesion skos:exactMatch DOID:12170 radial nerve lesion semapv:UnspecifiedMatching MONDO:0006940 radial nerve lesion skos:exactMatch EFO:1001143 semapv:UnspecifiedMatching MONDO:0006940 radial nerve lesion skos:exactMatch ICD10CM:G56.3 Lesion of radial nerve semapv:UnspecifiedMatching MONDO:0006940 radial nerve lesion skos:exactMatch MEDGEN:102317 semapv:UnspecifiedMatching MONDO:0006940 radial nerve lesion skos:exactMatch SCTID:193137006 semapv:UnspecifiedMatching MONDO:0006940 radial nerve lesion skos:exactMatch UMLS:C0154744 semapv:UnspecifiedMatching MONDO:0006941 rat-bite fever skos:exactMatch EFO:1001144 semapv:UnspecifiedMatching MONDO:0006941 rat-bite fever skos:exactMatch MEDGEN:11123 semapv:UnspecifiedMatching MONDO:0006941 rat-bite fever skos:exactMatch NCIT:C34971 Rat-Bite Fever semapv:UnspecifiedMatching MONDO:0006941 rat-bite fever skos:exactMatch Orphanet:31205 Rat-bite fever semapv:UnspecifiedMatching MONDO:0006941 rat-bite fever skos:exactMatch SCTID:1685005 semapv:UnspecifiedMatching MONDO:0006941 rat-bite fever skos:exactMatch UMLS:C0034686 semapv:UnspecifiedMatching MONDO:0006941 rat-bite fever skos:exactMatch icd11.foundation:1026551291 Rat-bite fevers semapv:UnspecifiedMatching MONDO:0006941 rat-bite fever skos:exactMatch mesh:D011906 semapv:UnspecifiedMatching MONDO:0006944 renal aminoaciduria skos:exactMatch MEDGEN:254 semapv:UnspecifiedMatching MONDO:0006944 renal aminoaciduria skos:exactMatch SCTID:35912001 semapv:UnspecifiedMatching MONDO:0006944 renal aminoaciduria skos:exactMatch UMLS:C0002534 semapv:UnspecifiedMatching MONDO:0006944 renal aminoaciduria skos:exactMatch mesh:D000608 semapv:UnspecifiedMatching MONDO:0006945 renal artery obstruction skos:exactMatch DOID:2972 renal artery obstruction semapv:UnspecifiedMatching MONDO:0006945 renal artery obstruction skos:exactMatch EFO:1001150 semapv:UnspecifiedMatching MONDO:0006945 renal artery obstruction skos:exactMatch MEDGEN:48406 semapv:UnspecifiedMatching MONDO:0006945 renal artery obstruction skos:exactMatch UMLS:C0035066 semapv:UnspecifiedMatching MONDO:0006945 renal artery obstruction skos:exactMatch mesh:D012078 semapv:UnspecifiedMatching MONDO:0006946 renal osteodystrophy skos:exactMatch DOID:13068 renal osteodystrophy semapv:UnspecifiedMatching MONDO:0006946 renal osteodystrophy skos:exactMatch EFO:1001152 semapv:UnspecifiedMatching MONDO:0006946 renal osteodystrophy skos:exactMatch ICD10CM:N25.0 Renal osteodystrophy semapv:UnspecifiedMatching MONDO:0006946 renal osteodystrophy skos:exactMatch MEDGEN:20524 semapv:UnspecifiedMatching MONDO:0006946 renal osteodystrophy skos:exactMatch SCTID:16726004 semapv:UnspecifiedMatching MONDO:0006946 renal osteodystrophy skos:exactMatch UMLS:C0035086 semapv:UnspecifiedMatching MONDO:0006946 renal osteodystrophy skos:exactMatch mesh:D012080 semapv:UnspecifiedMatching MONDO:0006947 renovascular hypertension skos:exactMatch DOID:1591 renovascular hypertension semapv:UnspecifiedMatching MONDO:0006947 renovascular hypertension skos:exactMatch EFO:1001153 semapv:UnspecifiedMatching MONDO:0006947 renovascular hypertension skos:exactMatch ICD10CM:I15.0 Renovascular hypertension semapv:UnspecifiedMatching MONDO:0006947 renovascular hypertension skos:exactMatch MEDGEN:43786 semapv:UnspecifiedMatching MONDO:0006947 renovascular hypertension skos:exactMatch SCTID:123799005 semapv:UnspecifiedMatching MONDO:0006947 renovascular hypertension skos:exactMatch UMLS:C0020545 semapv:UnspecifiedMatching MONDO:0006947 renovascular hypertension skos:exactMatch icd11.foundation:422807701 Secondary hypertension associated with renovascular disease semapv:UnspecifiedMatching MONDO:0006948 retinal artery occlusion skos:exactMatch DOID:8483 retinal artery occlusion semapv:UnspecifiedMatching MONDO:0006948 retinal artery occlusion skos:exactMatch EFO:1001154 semapv:UnspecifiedMatching MONDO:0006948 retinal artery occlusion skos:exactMatch MEDGEN:11208 semapv:UnspecifiedMatching MONDO:0006948 retinal artery occlusion skos:exactMatch NCIT:C34978 Retinal Artery Occlusion semapv:UnspecifiedMatching MONDO:0006948 retinal artery occlusion skos:exactMatch SCTID:232035005 semapv:UnspecifiedMatching MONDO:0006948 retinal artery occlusion skos:exactMatch UMLS:C0035302 semapv:UnspecifiedMatching MONDO:0006948 retinal artery occlusion skos:exactMatch mesh:D015356 semapv:UnspecifiedMatching MONDO:0006949 retinal drusen skos:exactMatch DOID:2569 retinal drusen semapv:UnspecifiedMatching MONDO:0006949 retinal drusen skos:exactMatch EFO:1001155 semapv:UnspecifiedMatching MONDO:0006949 retinal drusen skos:exactMatch MEDGEN:20549 semapv:UnspecifiedMatching MONDO:0006949 retinal drusen skos:exactMatch SCTID:247153005 semapv:UnspecifiedMatching MONDO:0006949 retinal drusen skos:exactMatch UMLS:C0035312 semapv:UnspecifiedMatching MONDO:0006949 retinal drusen skos:exactMatch mesh:D015593 semapv:UnspecifiedMatching MONDO:0006950 retinal vasculitis skos:exactMatch DOID:11563 retinal vasculitis semapv:UnspecifiedMatching MONDO:0006950 retinal vasculitis skos:exactMatch EFO:1001156 semapv:UnspecifiedMatching MONDO:0006950 retinal vasculitis skos:exactMatch ICD10CM:H35.06 Retinal vasculitis semapv:UnspecifiedMatching MONDO:0006950 retinal vasculitis skos:exactMatch MEDGEN:57503 semapv:UnspecifiedMatching MONDO:0006950 retinal vasculitis skos:exactMatch SCTID:77628002 semapv:UnspecifiedMatching MONDO:0006950 retinal vasculitis skos:exactMatch UMLS:C0152026 semapv:UnspecifiedMatching MONDO:0006950 retinal vasculitis skos:exactMatch icd11.foundation:1863208483 Retinal vasculitis semapv:UnspecifiedMatching MONDO:0006950 retinal vasculitis skos:exactMatch mesh:D031300 semapv:UnspecifiedMatching MONDO:0006951 retinal vein occlusion skos:exactMatch DOID:1727 retinal vein occlusion semapv:UnspecifiedMatching MONDO:0006951 retinal vein occlusion skos:exactMatch EFO:1001157 semapv:UnspecifiedMatching MONDO:0006951 retinal vein occlusion skos:exactMatch MEDGEN:19763 semapv:UnspecifiedMatching MONDO:0006951 retinal vein occlusion skos:exactMatch NCIT:C34981 Retinal Vein Occlusion semapv:UnspecifiedMatching MONDO:0006951 retinal vein occlusion skos:exactMatch SCTID:46085004 semapv:UnspecifiedMatching MONDO:0006951 retinal vein occlusion skos:exactMatch UMLS:C0035328 semapv:UnspecifiedMatching MONDO:0006951 retinal vein occlusion skos:exactMatch mesh:D012170 semapv:UnspecifiedMatching MONDO:0006952 retinopathy of prematurity skos:exactMatch DOID:13025 retinopathy of prematurity semapv:UnspecifiedMatching MONDO:0006952 retinopathy of prematurity skos:exactMatch EFO:1001158 semapv:UnspecifiedMatching MONDO:0006952 retinopathy of prematurity skos:exactMatch ICD10CM:H35.1 Retinopathy of prematurity semapv:UnspecifiedMatching MONDO:0006952 retinopathy of prematurity skos:exactMatch ICD10CM:H35.17 Retrolental fibroplasia semapv:UnspecifiedMatching MONDO:0006952 retinopathy of prematurity skos:exactMatch MEDGEN:48438 semapv:UnspecifiedMatching MONDO:0006952 retinopathy of prematurity skos:exactMatch NCIT:C34982 Retinopathy of Prematurity semapv:UnspecifiedMatching MONDO:0006952 retinopathy of prematurity skos:exactMatch Orphanet:90050 Retinopathy of prematurity semapv:UnspecifiedMatching MONDO:0006952 retinopathy of prematurity skos:exactMatch SCTID:415297005 semapv:UnspecifiedMatching MONDO:0006952 retinopathy of prematurity skos:exactMatch UMLS:C0035344 semapv:UnspecifiedMatching MONDO:0006952 retinopathy of prematurity skos:exactMatch icd11.foundation:947283385 Retinopathy of prematurity semapv:UnspecifiedMatching MONDO:0006952 retinopathy of prematurity skos:exactMatch mesh:D012178 semapv:UnspecifiedMatching MONDO:0006953 Rh isoimmunization skos:exactMatch DOID:4175 Rh isoimmunization semapv:UnspecifiedMatching MONDO:0006953 Rh isoimmunization skos:exactMatch EFO:1001159 semapv:UnspecifiedMatching MONDO:0006953 Rh isoimmunization skos:exactMatch MEDGEN:11224 semapv:UnspecifiedMatching MONDO:0006953 Rh isoimmunization skos:exactMatch SCTID:44795003 semapv:UnspecifiedMatching MONDO:0006953 Rh isoimmunization skos:exactMatch UMLS:C0035404 semapv:UnspecifiedMatching MONDO:0006955 rheumatic heart disease skos:exactMatch DOID:0050827 rheumatic heart disease semapv:UnspecifiedMatching MONDO:0006955 rheumatic heart disease skos:exactMatch EFO:1001161 semapv:UnspecifiedMatching MONDO:0006955 rheumatic heart disease skos:exactMatch MEDGEN:20565 semapv:UnspecifiedMatching MONDO:0006955 rheumatic heart disease skos:exactMatch NCIT:C34882 Rheumatic Heart Disease semapv:UnspecifiedMatching MONDO:0006955 rheumatic heart disease skos:exactMatch SCTID:23685000 semapv:UnspecifiedMatching MONDO:0006955 rheumatic heart disease skos:exactMatch UMLS:C0035439 semapv:UnspecifiedMatching MONDO:0006955 rheumatic heart disease skos:exactMatch icd11.foundation:291726710 Chronic rheumatic heart diseases, not elsewhere classified semapv:UnspecifiedMatching MONDO:0006955 rheumatic heart disease skos:exactMatch mesh:D012214 semapv:UnspecifiedMatching MONDO:0006956 Rickettsiosis skos:exactMatch EFO:1001162 semapv:UnspecifiedMatching MONDO:0006956 Rickettsiosis skos:exactMatch ICD10CM:A75-A79 Rickettsioses (A75-A79) semapv:UnspecifiedMatching MONDO:0006956 Rickettsiosis skos:exactMatch MEDGEN:20584 semapv:UnspecifiedMatching MONDO:0006956 Rickettsiosis skos:exactMatch NCIT:C34991 Rickettsiosis semapv:UnspecifiedMatching MONDO:0006956 Rickettsiosis skos:exactMatch Orphanet:102021 Rickettsial disease semapv:UnspecifiedMatching MONDO:0006956 Rickettsiosis skos:exactMatch SCTID:37246009 semapv:UnspecifiedMatching MONDO:0006956 Rickettsiosis skos:exactMatch UMLS:C0035585 semapv:UnspecifiedMatching MONDO:0006956 Rickettsiosis skos:exactMatch mesh:D012282 semapv:UnspecifiedMatching MONDO:0006957 root caries skos:exactMatch DOID:14089 root caries semapv:UnspecifiedMatching MONDO:0006957 root caries skos:exactMatch EFO:1001163 semapv:UnspecifiedMatching MONDO:0006957 root caries skos:exactMatch MEDGEN:57954 semapv:UnspecifiedMatching MONDO:0006957 root caries skos:exactMatch SCTID:30512007 semapv:UnspecifiedMatching MONDO:0006957 root caries skos:exactMatch UMLS:C0162644 semapv:UnspecifiedMatching MONDO:0006957 root caries skos:exactMatch mesh:D017213 semapv:UnspecifiedMatching MONDO:0006960 sciatic neuropathy skos:exactMatch DOID:11446 sciatic neuropathy semapv:UnspecifiedMatching MONDO:0006960 sciatic neuropathy skos:exactMatch EFO:1001166 semapv:UnspecifiedMatching MONDO:0006960 sciatic neuropathy skos:exactMatch MEDGEN:57705 semapv:UnspecifiedMatching MONDO:0006960 sciatic neuropathy skos:exactMatch SCTID:52585001 semapv:UnspecifiedMatching MONDO:0006960 sciatic neuropathy skos:exactMatch UMLS:C0149940 semapv:UnspecifiedMatching MONDO:0006960 sciatic neuropathy skos:exactMatch mesh:D020426 semapv:UnspecifiedMatching MONDO:0006961 scrapie skos:exactMatch DOID:5434 scrapie semapv:UnspecifiedMatching MONDO:0006961 scrapie skos:exactMatch EFO:1001168 semapv:UnspecifiedMatching MONDO:0006961 scrapie skos:exactMatch MEDGEN:19903 semapv:UnspecifiedMatching MONDO:0006961 scrapie skos:exactMatch UMLS:C0036457 semapv:UnspecifiedMatching MONDO:0006961 scrapie skos:exactMatch mesh:D012608 semapv:UnspecifiedMatching MONDO:0006962 sebaceous adenocarcinoma skos:exactMatch DOID:4839 sebaceous adenocarcinoma semapv:UnspecifiedMatching MONDO:0006962 sebaceous adenocarcinoma skos:exactMatch DOID:4840 sebaceous carcinoma semapv:UnspecifiedMatching MONDO:0006962 sebaceous adenocarcinoma skos:exactMatch EFO:1001171 semapv:UnspecifiedMatching MONDO:0006962 sebaceous adenocarcinoma skos:exactMatch MEDGEN:64632 semapv:UnspecifiedMatching MONDO:0006962 sebaceous adenocarcinoma skos:exactMatch NCIT:C40310 Sebaceous Carcinoma semapv:UnspecifiedMatching MONDO:0006962 sebaceous adenocarcinoma skos:exactMatch SCTID:307599002 semapv:UnspecifiedMatching MONDO:0006962 sebaceous adenocarcinoma skos:exactMatch UMLS:C0206684 semapv:UnspecifiedMatching MONDO:0006962 sebaceous adenocarcinoma skos:exactMatch mesh:D018266 semapv:UnspecifiedMatching MONDO:0006963 sebaceous gland neoplasm skos:exactMatch DOID:5759 sebaceous gland neoplasm semapv:UnspecifiedMatching MONDO:0006963 sebaceous gland neoplasm skos:exactMatch EFO:1001172 semapv:UnspecifiedMatching MONDO:0006963 sebaceous gland neoplasm skos:exactMatch MEDGEN:19911 semapv:UnspecifiedMatching MONDO:0006963 sebaceous gland neoplasm skos:exactMatch NCIT:C3363 Sebaceous Gland Neoplasm semapv:UnspecifiedMatching MONDO:0006963 sebaceous gland neoplasm skos:exactMatch SCTID:126491004 semapv:UnspecifiedMatching MONDO:0006963 sebaceous gland neoplasm skos:exactMatch UMLS:C0036503 semapv:UnspecifiedMatching MONDO:0006963 sebaceous gland neoplasm skos:exactMatch mesh:D012626 semapv:UnspecifiedMatching MONDO:0006964 secondary hyperparathyroidism skos:exactMatch DOID:12466 secondary hyperparathyroidism semapv:UnspecifiedMatching MONDO:0006964 secondary hyperparathyroidism skos:exactMatch EFO:1001173 semapv:UnspecifiedMatching MONDO:0006964 secondary hyperparathyroidism skos:exactMatch MEDGEN:9368 semapv:UnspecifiedMatching MONDO:0006964 secondary hyperparathyroidism skos:exactMatch NCIT:C113335 Secondary Hyperparathyroidism semapv:UnspecifiedMatching MONDO:0006964 secondary hyperparathyroidism skos:exactMatch SCTID:91478007 semapv:UnspecifiedMatching MONDO:0006964 secondary hyperparathyroidism skos:exactMatch UMLS:C0020503 semapv:UnspecifiedMatching MONDO:0006964 secondary hyperparathyroidism skos:exactMatch icd11.foundation:1442752937 Secondary hyperparathyroidism semapv:UnspecifiedMatching MONDO:0006964 secondary hyperparathyroidism skos:exactMatch mesh:D006962 semapv:UnspecifiedMatching MONDO:0006965 secondary hypertrophic osteoarthropathy skos:exactMatch DOID:10393 secondary hypertrophic osteoarthropathy semapv:UnspecifiedMatching MONDO:0006965 secondary hypertrophic osteoarthropathy skos:exactMatch EFO:1001174 semapv:UnspecifiedMatching MONDO:0006965 secondary hypertrophic osteoarthropathy skos:exactMatch MEDGEN:18211 semapv:UnspecifiedMatching MONDO:0006965 secondary hypertrophic osteoarthropathy skos:exactMatch SCTID:203357004 semapv:UnspecifiedMatching MONDO:0006965 secondary hypertrophic osteoarthropathy skos:exactMatch UMLS:C0029412 semapv:UnspecifiedMatching MONDO:0006965 secondary hypertrophic osteoarthropathy skos:exactMatch icd11.foundation:1325516156 Secondary hypertrophic osteoarthropathy semapv:UnspecifiedMatching MONDO:0006965 secondary hypertrophic osteoarthropathy skos:exactMatch mesh:D010005 semapv:UnspecifiedMatching MONDO:0006966 secondary Parkinson disease skos:exactMatch DOID:13548 secondary Parkinson disease semapv:UnspecifiedMatching MONDO:0006966 secondary Parkinson disease skos:exactMatch EFO:1001175 semapv:UnspecifiedMatching MONDO:0006966 secondary Parkinson disease skos:exactMatch ICD10CM:G21 Secondary parkinsonism semapv:UnspecifiedMatching MONDO:0006966 secondary Parkinson disease skos:exactMatch MEDGEN:10592 semapv:UnspecifiedMatching MONDO:0006966 secondary Parkinson disease skos:exactMatch NCIT:C34899 Secondary Parkinsonism semapv:UnspecifiedMatching MONDO:0006966 secondary Parkinson disease skos:exactMatch SCTID:265377002 semapv:UnspecifiedMatching MONDO:0006966 secondary Parkinson disease skos:exactMatch UMLS:C0030569 semapv:UnspecifiedMatching MONDO:0006966 secondary Parkinson disease skos:exactMatch mesh:D010302 semapv:UnspecifiedMatching MONDO:0006967 obsolete septic abortion skos:exactMatch mesh:D000031 semapv:UnspecifiedMatching MONDO:0006968 shoulder impingement syndrome skos:exactMatch DOID:14276 shoulder impingement syndrome semapv:UnspecifiedMatching MONDO:0006968 shoulder impingement syndrome skos:exactMatch EFO:1001178 semapv:UnspecifiedMatching MONDO:0006968 shoulder impingement syndrome skos:exactMatch ICD10CM:M75.4 Impingement syndrome of shoulder semapv:UnspecifiedMatching MONDO:0006968 shoulder impingement syndrome skos:exactMatch MEDGEN:138249 semapv:UnspecifiedMatching MONDO:0006968 shoulder impingement syndrome skos:exactMatch SCTID:202849001 semapv:UnspecifiedMatching MONDO:0006968 shoulder impingement syndrome skos:exactMatch UMLS:C0376685 semapv:UnspecifiedMatching MONDO:0006968 shoulder impingement syndrome skos:exactMatch mesh:D019534 semapv:UnspecifiedMatching MONDO:0006969 sialadenitis skos:exactMatch DOID:10303 sialadenitis semapv:UnspecifiedMatching MONDO:0006969 sialadenitis skos:exactMatch EFO:1001179 semapv:UnspecifiedMatching MONDO:0006969 sialadenitis skos:exactMatch ICD10CM:K11.2 Sialoadenitis semapv:UnspecifiedMatching MONDO:0006969 sialadenitis skos:exactMatch MEDGEN:48657 semapv:UnspecifiedMatching MONDO:0006969 sialadenitis skos:exactMatch NCIT:C115165 Sialitis semapv:UnspecifiedMatching MONDO:0006969 sialadenitis skos:exactMatch NCIT:C26882 Sialadenitis semapv:UnspecifiedMatching MONDO:0006969 sialadenitis skos:exactMatch SCTID:42982001 semapv:UnspecifiedMatching MONDO:0006969 sialadenitis skos:exactMatch UMLS:C0037023 semapv:UnspecifiedMatching MONDO:0006969 sialadenitis skos:exactMatch mesh:D012793 semapv:UnspecifiedMatching MONDO:0006970 sialolithiasis skos:exactMatch DOID:12905 sialolithiasis semapv:UnspecifiedMatching MONDO:0006970 sialolithiasis skos:exactMatch EFO:1001180 semapv:UnspecifiedMatching MONDO:0006970 sialolithiasis skos:exactMatch ICD10CM:K11.5 Sialolithiasis semapv:UnspecifiedMatching MONDO:0006970 sialolithiasis skos:exactMatch MEDGEN:48536 semapv:UnspecifiedMatching MONDO:0006970 sialolithiasis skos:exactMatch SCTID:28826002 semapv:UnspecifiedMatching MONDO:0006970 sialolithiasis skos:exactMatch UMLS:C0036091 semapv:UnspecifiedMatching MONDO:0006970 sialolithiasis skos:exactMatch icd11.foundation:1984849248 Sialolithiasis semapv:UnspecifiedMatching MONDO:0006970 sialolithiasis skos:exactMatch mesh:D015494 semapv:UnspecifiedMatching MONDO:0006971 sigmoid neoplasm skos:exactMatch DOID:1896 sigmoid neoplasm semapv:UnspecifiedMatching MONDO:0006971 sigmoid neoplasm skos:exactMatch EFO:1001181 semapv:UnspecifiedMatching MONDO:0006971 sigmoid neoplasm skos:exactMatch MEDGEN:20753 semapv:UnspecifiedMatching MONDO:0006971 sigmoid neoplasm skos:exactMatch SCTID:126845000 semapv:UnspecifiedMatching MONDO:0006971 sigmoid neoplasm skos:exactMatch UMLS:C0037073 semapv:UnspecifiedMatching MONDO:0006971 sigmoid neoplasm skos:exactMatch mesh:D012811 semapv:UnspecifiedMatching MONDO:0006972 silo filler disease skos:exactMatch DOID:4374 Silo filler's disease semapv:UnspecifiedMatching MONDO:0006972 silo filler disease skos:exactMatch MEDGEN:11428 semapv:UnspecifiedMatching MONDO:0006972 silo filler disease skos:exactMatch SCTID:61233003 semapv:UnspecifiedMatching MONDO:0006972 silo filler disease skos:exactMatch UMLS:C0037120 semapv:UnspecifiedMatching MONDO:0006972 silo filler disease skos:exactMatch icd11.foundation:1960063586 Silo filler disease semapv:UnspecifiedMatching MONDO:0006972 silo filler disease skos:exactMatch mesh:D012832 semapv:UnspecifiedMatching MONDO:0006973 skin appendage carcinoma skos:exactMatch EFO:1001183 semapv:UnspecifiedMatching MONDO:0006973 skin appendage carcinoma skos:exactMatch MEDGEN:60209 semapv:UnspecifiedMatching MONDO:0006973 skin appendage carcinoma skos:exactMatch NCIT:C3775 Skin Adnexal Carcinoma semapv:UnspecifiedMatching MONDO:0006973 skin appendage carcinoma skos:exactMatch UMLS:C0206697 semapv:UnspecifiedMatching MONDO:0006973 skin appendage carcinoma skos:exactMatch mesh:D018280 semapv:UnspecifiedMatching MONDO:0006974 small cell sarcoma skos:exactMatch DOID:3098 small cell sarcoma semapv:UnspecifiedMatching MONDO:0006974 small cell sarcoma skos:exactMatch EFO:1001184 semapv:UnspecifiedMatching MONDO:0006974 small cell sarcoma skos:exactMatch MEDGEN:60201 semapv:UnspecifiedMatching MONDO:0006974 small cell sarcoma skos:exactMatch NCIT:C3746 Small Cell Sarcoma semapv:UnspecifiedMatching MONDO:0006974 small cell sarcoma skos:exactMatch UMLS:C0206652 semapv:UnspecifiedMatching MONDO:0006974 small cell sarcoma skos:exactMatch mesh:D018228 semapv:UnspecifiedMatching MONDO:0006975 smooth muscle tumor skos:exactMatch DOID:4310 smooth muscle tumor semapv:UnspecifiedMatching MONDO:0006975 smooth muscle tumor skos:exactMatch EFO:1001185 semapv:UnspecifiedMatching MONDO:0006975 smooth muscle tumor skos:exactMatch MEDGEN:104911 semapv:UnspecifiedMatching MONDO:0006975 smooth muscle tumor skos:exactMatch NCIT:C3751 Smooth Muscle Neoplasm semapv:UnspecifiedMatching MONDO:0006975 smooth muscle tumor skos:exactMatch UMLS:C0206658 semapv:UnspecifiedMatching MONDO:0006975 smooth muscle tumor skos:exactMatch mesh:D018235 semapv:UnspecifiedMatching MONDO:0006976 somatostatinoma skos:exactMatch DOID:4430 somatostatinoma semapv:UnspecifiedMatching MONDO:0006976 somatostatinoma skos:exactMatch EFO:1001187 semapv:UnspecifiedMatching MONDO:0006976 somatostatinoma skos:exactMatch MEDGEN:52416 semapv:UnspecifiedMatching MONDO:0006976 somatostatinoma skos:exactMatch NCIT:C3379 Somatostatin-Producing Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO:0006976 somatostatinoma skos:exactMatch Orphanet:97283 Somatostatinoma semapv:UnspecifiedMatching MONDO:0006976 somatostatinoma skos:exactMatch SCTID:253006001 semapv:UnspecifiedMatching MONDO:0006976 somatostatinoma skos:exactMatch UMLS:C0037661 semapv:UnspecifiedMatching MONDO:0006976 somatostatinoma skos:exactMatch icd11.foundation:219879696 Somatostatinoma semapv:UnspecifiedMatching MONDO:0006976 somatostatinoma skos:exactMatch mesh:D013005 semapv:UnspecifiedMatching MONDO:0006977 spermatocele skos:exactMatch DOID:11997 spermatocele semapv:UnspecifiedMatching MONDO:0006977 spermatocele skos:exactMatch EFO:1001189 semapv:UnspecifiedMatching MONDO:0006977 spermatocele skos:exactMatch ICD10CM:N43.4 Spermatocele of epididymis semapv:UnspecifiedMatching MONDO:0006977 spermatocele skos:exactMatch MEDGEN:20857 semapv:UnspecifiedMatching MONDO:0006977 spermatocele skos:exactMatch SCTID:49263001 semapv:UnspecifiedMatching MONDO:0006977 spermatocele skos:exactMatch UMLS:C0037859 semapv:UnspecifiedMatching MONDO:0006977 spermatocele skos:exactMatch icd11.foundation:1907004531 Spermatocele semapv:UnspecifiedMatching MONDO:0006977 spermatocele skos:exactMatch mesh:D013088 semapv:UnspecifiedMatching MONDO:0006978 splenic infarction skos:exactMatch DOID:2533 splenic infarction semapv:UnspecifiedMatching MONDO:0006978 splenic infarction skos:exactMatch EFO:1001190 semapv:UnspecifiedMatching MONDO:0006978 splenic infarction skos:exactMatch ICD10CM:D73.5 Infarction of spleen semapv:UnspecifiedMatching MONDO:0006978 splenic infarction skos:exactMatch MEDGEN:52468 semapv:UnspecifiedMatching MONDO:0006978 splenic infarction skos:exactMatch SCTID:22996003 semapv:UnspecifiedMatching MONDO:0006978 splenic infarction skos:exactMatch UMLS:C0037998 semapv:UnspecifiedMatching MONDO:0006978 splenic infarction skos:exactMatch mesh:D013159 semapv:UnspecifiedMatching MONDO:0006979 steatitis skos:exactMatch SCTID:33882007 semapv:UnspecifiedMatching MONDO:0006979 steatitis skos:exactMatch mesh:D013231 semapv:UnspecifiedMatching MONDO:0006980 struma ovarii skos:exactMatch DOID:2640 struma ovarii semapv:UnspecifiedMatching MONDO:0006980 struma ovarii skos:exactMatch EFO:1001192 semapv:UnspecifiedMatching MONDO:0006980 struma ovarii skos:exactMatch MEDGEN:20977 semapv:UnspecifiedMatching MONDO:0006980 struma ovarii skos:exactMatch NCIT:C7468 Struma Ovarii semapv:UnspecifiedMatching MONDO:0006980 struma ovarii skos:exactMatch UMLS:C0038478 semapv:UnspecifiedMatching MONDO:0006980 struma ovarii skos:exactMatch icd11.foundation:185581438 Struma ovarii semapv:UnspecifiedMatching MONDO:0006980 struma ovarii skos:exactMatch mesh:D013330 semapv:UnspecifiedMatching MONDO:0006981 subacute bacterial endocarditis skos:exactMatch DOID:4562 subacute bacterial endocarditis semapv:UnspecifiedMatching MONDO:0006981 subacute bacterial endocarditis skos:exactMatch EFO:1001193 semapv:UnspecifiedMatching MONDO:0006981 subacute bacterial endocarditis skos:exactMatch MEDGEN:41780 semapv:UnspecifiedMatching MONDO:0006981 subacute bacterial endocarditis skos:exactMatch NCIT:C34583 Subacute Bacterial Endocarditis semapv:UnspecifiedMatching MONDO:0006981 subacute bacterial endocarditis skos:exactMatch SCTID:73774007 semapv:UnspecifiedMatching MONDO:0006981 subacute bacterial endocarditis skos:exactMatch UMLS:C0014122 semapv:UnspecifiedMatching MONDO:0006981 subacute bacterial endocarditis skos:exactMatch icd11.foundation:933942548 Subacute bacterial endocarditis semapv:UnspecifiedMatching MONDO:0006981 subacute bacterial endocarditis skos:exactMatch mesh:D004698 semapv:UnspecifiedMatching MONDO:0006982 subacute thyroiditis skos:exactMatch DOID:7165 subacute thyroiditis semapv:UnspecifiedMatching MONDO:0006982 subacute thyroiditis skos:exactMatch EFO:1001194 semapv:UnspecifiedMatching MONDO:0006982 subacute thyroiditis skos:exactMatch ICD10CM:E06.1 Subacute thyroiditis semapv:UnspecifiedMatching MONDO:0006982 subacute thyroiditis skos:exactMatch MEDGEN:21549 semapv:UnspecifiedMatching MONDO:0006982 subacute thyroiditis skos:exactMatch NCIT:C35071 Subacute Thyroiditis semapv:UnspecifiedMatching MONDO:0006982 subacute thyroiditis skos:exactMatch NCIT:C35828 Subacute Granulomatous Thyroiditis semapv:UnspecifiedMatching MONDO:0006982 subacute thyroiditis skos:exactMatch SCTID:428041004 semapv:UnspecifiedMatching MONDO:0006982 subacute thyroiditis skos:exactMatch UMLS:C0040149 semapv:UnspecifiedMatching MONDO:0006982 subacute thyroiditis skos:exactMatch icd11.foundation:1320394379 Subacute thyroiditis semapv:UnspecifiedMatching MONDO:0006982 subacute thyroiditis skos:exactMatch mesh:D013968 semapv:UnspecifiedMatching MONDO:0006983 subclavian steal syndrome skos:exactMatch DOID:13002 subclavian steal syndrome semapv:UnspecifiedMatching MONDO:0006983 subclavian steal syndrome skos:exactMatch MEDGEN:20983 semapv:UnspecifiedMatching MONDO:0006983 subclavian steal syndrome skos:exactMatch NCIT:C35044 Subclavian Steal Syndrome semapv:UnspecifiedMatching MONDO:0006983 subclavian steal syndrome skos:exactMatch SCTID:15258001 semapv:UnspecifiedMatching MONDO:0006983 subclavian steal syndrome skos:exactMatch UMLS:C0038531 semapv:UnspecifiedMatching MONDO:0006983 subclavian steal syndrome skos:exactMatch icd11.foundation:2123391417 Subclavian steal syndrome semapv:UnspecifiedMatching MONDO:0006983 subclavian steal syndrome skos:exactMatch mesh:D013349 semapv:UnspecifiedMatching MONDO:0006984 subdural empyema skos:exactMatch DOID:11389 subdural empyema semapv:UnspecifiedMatching MONDO:0006984 subdural empyema skos:exactMatch EFO:1001196 semapv:UnspecifiedMatching MONDO:0006984 subdural empyema skos:exactMatch MEDGEN:52531 semapv:UnspecifiedMatching MONDO:0006984 subdural empyema skos:exactMatch SCTID:37660004 semapv:UnspecifiedMatching MONDO:0006984 subdural empyema skos:exactMatch UMLS:C0038539 semapv:UnspecifiedMatching MONDO:0006984 subdural empyema skos:exactMatch mesh:D013354 semapv:UnspecifiedMatching MONDO:0006986 substernal goiter skos:exactMatch DOID:13200 substernal goiter semapv:UnspecifiedMatching MONDO:0006986 substernal goiter skos:exactMatch MEDGEN:9066 semapv:UnspecifiedMatching MONDO:0006986 substernal goiter skos:exactMatch SCTID:66392007 semapv:UnspecifiedMatching MONDO:0006986 substernal goiter skos:exactMatch UMLS:C0018024 semapv:UnspecifiedMatching MONDO:0006986 substernal goiter skos:exactMatch mesh:D006045 semapv:UnspecifiedMatching MONDO:0006987 subvalvular aortic stenosis skos:exactMatch DOID:5805 subvalvular aortic stenosis semapv:UnspecifiedMatching MONDO:0006987 subvalvular aortic stenosis skos:exactMatch EFO:1001199 semapv:UnspecifiedMatching MONDO:0006987 subvalvular aortic stenosis skos:exactMatch MEDGEN:90950 semapv:UnspecifiedMatching MONDO:0006987 subvalvular aortic stenosis skos:exactMatch NCIT:C85172 Subvalvular Aortic Stenosis semapv:UnspecifiedMatching MONDO:0006987 subvalvular aortic stenosis skos:exactMatch SCTID:204368006 semapv:UnspecifiedMatching MONDO:0006987 subvalvular aortic stenosis skos:exactMatch UMLS:C0340375 semapv:UnspecifiedMatching MONDO:0006987 subvalvular aortic stenosis skos:exactMatch mesh:D001020 semapv:UnspecifiedMatching MONDO:0006988 sulfhemoglobinemia skos:exactMatch DOID:12451 sulfhemoglobinemia semapv:UnspecifiedMatching MONDO:0006988 sulfhemoglobinemia skos:exactMatch EFO:1001200 semapv:UnspecifiedMatching MONDO:0006988 sulfhemoglobinemia skos:exactMatch MEDGEN:52562 semapv:UnspecifiedMatching MONDO:0006988 sulfhemoglobinemia skos:exactMatch SCTID:32117000 semapv:UnspecifiedMatching MONDO:0006988 sulfhemoglobinemia skos:exactMatch UMLS:C0038732 semapv:UnspecifiedMatching MONDO:0006988 sulfhemoglobinemia skos:exactMatch mesh:D013436 semapv:UnspecifiedMatching MONDO:0006989 suppurative periapical periodontitis skos:exactMatch DOID:2562 suppurative periapical periodontitis semapv:UnspecifiedMatching MONDO:0006989 suppurative periapical periodontitis skos:exactMatch EFO:1001202 semapv:UnspecifiedMatching MONDO:0006989 suppurative periapical periodontitis skos:exactMatch MEDGEN:10652 semapv:UnspecifiedMatching MONDO:0006989 suppurative periapical periodontitis skos:exactMatch NCIT:C34913 Periapical Dental Abscess semapv:UnspecifiedMatching MONDO:0006989 suppurative periapical periodontitis skos:exactMatch UMLS:C0031024 semapv:UnspecifiedMatching MONDO:0006989 suppurative periapical periodontitis skos:exactMatch mesh:D010482 semapv:UnspecifiedMatching MONDO:0006990 suppurative uveitis skos:exactMatch DOID:13140 suppurative uveitis semapv:UnspecifiedMatching MONDO:0006990 suppurative uveitis skos:exactMatch MEDGEN:22598 semapv:UnspecifiedMatching MONDO:0006990 suppurative uveitis skos:exactMatch UMLS:C0042168 semapv:UnspecifiedMatching MONDO:0006990 suppurative uveitis skos:exactMatch mesh:D015829 semapv:UnspecifiedMatching MONDO:0006992 syphilitic aortitis skos:exactMatch EFO:1001206 semapv:UnspecifiedMatching MONDO:0006992 syphilitic aortitis skos:exactMatch ICD10CM:A52.02 Syphilitic aortitis semapv:UnspecifiedMatching MONDO:0006992 syphilitic aortitis skos:exactMatch MEDGEN:364 semapv:UnspecifiedMatching MONDO:0006992 syphilitic aortitis skos:exactMatch SCTID:20735004 semapv:UnspecifiedMatching MONDO:0006992 syphilitic aortitis skos:exactMatch UMLS:C0003511 semapv:UnspecifiedMatching MONDO:0006992 syphilitic aortitis skos:exactMatch icd11.foundation:921262131 Syphilitic aortitis semapv:UnspecifiedMatching MONDO:0006993 systolic heart failure skos:exactMatch DOID:9651 systolic heart failure semapv:UnspecifiedMatching MONDO:0006993 systolic heart failure skos:exactMatch EFO:1001207 semapv:UnspecifiedMatching MONDO:0006993 systolic heart failure skos:exactMatch MEDGEN:210050 semapv:UnspecifiedMatching MONDO:0006993 systolic heart failure skos:exactMatch SCTID:417996009 semapv:UnspecifiedMatching MONDO:0006993 systolic heart failure skos:exactMatch UMLS:C1135191 semapv:UnspecifiedMatching MONDO:0006993 systolic heart failure skos:exactMatch mesh:D054143 semapv:UnspecifiedMatching MONDO:0006994 tarsal tunnel syndrome skos:exactMatch DOID:12526 tarsal tunnel syndrome semapv:UnspecifiedMatching MONDO:0006994 tarsal tunnel syndrome skos:exactMatch EFO:1001208 semapv:UnspecifiedMatching MONDO:0006994 tarsal tunnel syndrome skos:exactMatch ICD10CM:G57.5 Tarsal tunnel syndrome semapv:UnspecifiedMatching MONDO:0006994 tarsal tunnel syndrome skos:exactMatch MEDGEN:52646 semapv:UnspecifiedMatching MONDO:0006994 tarsal tunnel syndrome skos:exactMatch NCIT:C85183 Tarsal Tunnel Syndrome semapv:UnspecifiedMatching MONDO:0006994 tarsal tunnel syndrome skos:exactMatch SCTID:47374004 semapv:UnspecifiedMatching MONDO:0006994 tarsal tunnel syndrome skos:exactMatch UMLS:C0039319 semapv:UnspecifiedMatching MONDO:0006994 tarsal tunnel syndrome skos:exactMatch icd11.foundation:854657246 Tarsal tunnel syndrome semapv:UnspecifiedMatching MONDO:0006994 tarsal tunnel syndrome skos:exactMatch mesh:D013641 semapv:UnspecifiedMatching MONDO:0006995 tethered spinal cord syndrome skos:exactMatch DOID:1089 tethered spinal cord syndrome semapv:UnspecifiedMatching MONDO:0006995 tethered spinal cord syndrome skos:exactMatch EFO:1001210 semapv:UnspecifiedMatching MONDO:0006995 tethered spinal cord syndrome skos:exactMatch MEDGEN:36387 semapv:UnspecifiedMatching MONDO:0006995 tethered spinal cord syndrome skos:exactMatch NCIT:C99080 Tethered Spinal Cord Syndrome semapv:UnspecifiedMatching MONDO:0006995 tethered spinal cord syndrome skos:exactMatch SCTID:249491000119100 semapv:UnspecifiedMatching MONDO:0006995 tethered spinal cord syndrome skos:exactMatch UMLS:C0080218 semapv:UnspecifiedMatching MONDO:0006996 thyroid crisis skos:exactMatch DOID:12837 thyroid crisis semapv:UnspecifiedMatching MONDO:0006996 thyroid crisis skos:exactMatch EFO:1001212 semapv:UnspecifiedMatching MONDO:0006996 thyroid crisis skos:exactMatch MEDGEN:11813 semapv:UnspecifiedMatching MONDO:0006996 thyroid crisis skos:exactMatch NCIT:C112836 Thyroid Storm semapv:UnspecifiedMatching MONDO:0006996 thyroid crisis skos:exactMatch SCTID:29028009 semapv:UnspecifiedMatching MONDO:0006996 thyroid crisis skos:exactMatch UMLS:C0040127 semapv:UnspecifiedMatching MONDO:0006996 thyroid crisis skos:exactMatch icd11.foundation:1215823328 Thyroid crisis semapv:UnspecifiedMatching MONDO:0006996 thyroid crisis skos:exactMatch mesh:D013958 semapv:UnspecifiedMatching MONDO:0006997 tibial neuropathy skos:exactMatch DOID:1187 tibial neuropathy semapv:UnspecifiedMatching MONDO:0006997 tibial neuropathy skos:exactMatch MEDGEN:148422 semapv:UnspecifiedMatching MONDO:0006997 tibial neuropathy skos:exactMatch SCTID:399076001 semapv:UnspecifiedMatching MONDO:0006997 tibial neuropathy skos:exactMatch UMLS:C0751932 semapv:UnspecifiedMatching MONDO:0006997 tibial neuropathy skos:exactMatch mesh:D020429 semapv:UnspecifiedMatching MONDO:0006998 tonsil cancer skos:exactMatch DOID:8858 tonsil cancer semapv:UnspecifiedMatching MONDO:0006998 tonsil cancer skos:exactMatch EFO:1001214 semapv:UnspecifiedMatching MONDO:0006998 tonsil cancer skos:exactMatch ICD10CM:C09 Malignant neoplasm of tonsil semapv:UnspecifiedMatching MONDO:0006998 tonsil cancer skos:exactMatch MEDGEN:148341 semapv:UnspecifiedMatching MONDO:0006998 tonsil cancer skos:exactMatch NCIT:C7404 Malignant Tonsillar Neoplasm semapv:UnspecifiedMatching MONDO:0006998 tonsil cancer skos:exactMatch SCTID:363393007 semapv:UnspecifiedMatching MONDO:0006998 tonsil cancer skos:exactMatch UMLS:C0751560 semapv:UnspecifiedMatching MONDO:0006998 tonsil cancer skos:exactMatch icd11.foundation:2044833589 Malignant neoplasms of tonsil semapv:UnspecifiedMatching MONDO:0006998 tonsil cancer skos:exactMatch mesh:D014067 semapv:UnspecifiedMatching MONDO:0006999 tooth disorder skos:exactMatch DOID:1091 tooth disease semapv:UnspecifiedMatching MONDO:0006999 tooth disorder skos:exactMatch EFO:1001216 semapv:UnspecifiedMatching MONDO:0006999 tooth disorder skos:exactMatch MEDGEN:11852 semapv:UnspecifiedMatching MONDO:0006999 tooth disorder skos:exactMatch NCIT:C35077 Dental Disorder semapv:UnspecifiedMatching MONDO:0006999 tooth disorder skos:exactMatch SCTID:234947003 semapv:UnspecifiedMatching MONDO:0006999 tooth disorder skos:exactMatch UMLS:C0040435 semapv:UnspecifiedMatching MONDO:0006999 tooth disorder skos:exactMatch mesh:D014076 semapv:UnspecifiedMatching MONDO:0007000 Treponema infectious disease skos:exactMatch EFO:1001217 semapv:UnspecifiedMatching MONDO:0007000 Treponema infectious disease skos:exactMatch NCIT:C85197 Treponemal Infection semapv:UnspecifiedMatching MONDO:0007000 Treponema infectious disease skos:exactMatch mesh:D014211 semapv:UnspecifiedMatching MONDO:0007001 tricuspid valve prolapse skos:exactMatch DOID:5644 tricuspid valve prolapse semapv:UnspecifiedMatching MONDO:0007001 tricuspid valve prolapse skos:exactMatch EFO:1001218 semapv:UnspecifiedMatching MONDO:0007001 tricuspid valve prolapse skos:exactMatch MEDGEN:11912 semapv:UnspecifiedMatching MONDO:0007001 tricuspid valve prolapse skos:exactMatch SCTID:253383003 semapv:UnspecifiedMatching MONDO:0007001 tricuspid valve prolapse skos:exactMatch UMLS:C0040962 semapv:UnspecifiedMatching MONDO:0007001 tricuspid valve prolapse skos:exactMatch icd11.foundation:973833808 Tricuspid valve prolapse semapv:UnspecifiedMatching MONDO:0007001 tricuspid valve prolapse skos:exactMatch mesh:D014263 semapv:UnspecifiedMatching MONDO:0007002 trochlear nerve disorder skos:exactMatch DOID:13864 trochlear nerve disease semapv:UnspecifiedMatching MONDO:0007002 trochlear nerve disorder skos:exactMatch MEDGEN:888203 semapv:UnspecifiedMatching MONDO:0007002 trochlear nerve disorder skos:exactMatch NCIT:C78395 Trochlear Nerve Disorder semapv:UnspecifiedMatching MONDO:0007002 trochlear nerve disorder skos:exactMatch UMLS:C4048184 semapv:UnspecifiedMatching MONDO:0007002 trochlear nerve disorder skos:exactMatch mesh:D020432 semapv:UnspecifiedMatching MONDO:0007004 type III hypersensitivity disease skos:exactMatch DOID:1557 hypersensitivity reaction type III disease semapv:UnspecifiedMatching MONDO:0007004 type III hypersensitivity disease skos:exactMatch EFO:1001222 semapv:UnspecifiedMatching MONDO:0007004 type III hypersensitivity disease skos:exactMatch MEDGEN:7021 semapv:UnspecifiedMatching MONDO:0007004 type III hypersensitivity disease skos:exactMatch NCIT:C114346 Type III Hypersensitivity semapv:UnspecifiedMatching MONDO:0007004 type III hypersensitivity disease skos:exactMatch UMLS:C0020951 semapv:UnspecifiedMatching MONDO:0007004 type III hypersensitivity disease skos:exactMatch mesh:D007105 semapv:UnspecifiedMatching MONDO:0007005 ulcerative proctosigmoiditis skos:exactMatch EFO:1001223 semapv:UnspecifiedMatching MONDO:0007005 ulcerative proctosigmoiditis skos:exactMatch MEDGEN:540639 semapv:UnspecifiedMatching MONDO:0007005 ulcerative proctosigmoiditis skos:exactMatch SCTID:52506002 semapv:UnspecifiedMatching MONDO:0007005 ulcerative proctosigmoiditis skos:exactMatch UMLS:C0267390 semapv:UnspecifiedMatching MONDO:0007005 ulcerative proctosigmoiditis skos:exactMatch icd11.foundation:545503130 Ulcerative rectosigmoiditis semapv:UnspecifiedMatching MONDO:0007006 ulnar neuropathy skos:exactMatch DOID:4613 ulnar neuropathy semapv:UnspecifiedMatching MONDO:0007006 ulnar neuropathy skos:exactMatch EFO:1001224 semapv:UnspecifiedMatching MONDO:0007006 ulnar neuropathy skos:exactMatch MEDGEN:57596 semapv:UnspecifiedMatching MONDO:0007006 ulnar neuropathy skos:exactMatch SCTID:359837005 semapv:UnspecifiedMatching MONDO:0007006 ulnar neuropathy skos:exactMatch UMLS:C0154743 semapv:UnspecifiedMatching MONDO:0007006 ulnar neuropathy skos:exactMatch mesh:D020424 semapv:UnspecifiedMatching MONDO:0007007 Ureaplasma urethritis skos:exactMatch EFO:1001225 semapv:UnspecifiedMatching MONDO:0007007 Ureaplasma urethritis skos:exactMatch MEDGEN:1843394 semapv:UnspecifiedMatching MONDO:0007007 Ureaplasma urethritis skos:exactMatch SCTID:51105006 semapv:UnspecifiedMatching MONDO:0007007 Ureaplasma urethritis skos:exactMatch UMLS:C0854510 semapv:UnspecifiedMatching MONDO:0007007 Ureaplasma urethritis skos:exactMatch mesh:D016869 semapv:UnspecifiedMatching MONDO:0007008 uremia skos:exactMatch DOID:4676 uremia semapv:UnspecifiedMatching MONDO:0007008 uremia skos:exactMatch EFO:1001226 semapv:UnspecifiedMatching MONDO:0007008 uremia skos:exactMatch MEDGEN:12008 semapv:UnspecifiedMatching MONDO:0007008 uremia skos:exactMatch SCTID:44730006 semapv:UnspecifiedMatching MONDO:0007008 uremia skos:exactMatch UMLS:C0041948 semapv:UnspecifiedMatching MONDO:0007008 uremia skos:exactMatch mesh:D014511 semapv:UnspecifiedMatching MONDO:0007009 ureterolithiasis skos:exactMatch DOID:14146 ureterolithiasis semapv:UnspecifiedMatching MONDO:0007009 ureterolithiasis skos:exactMatch EFO:1001228 semapv:UnspecifiedMatching MONDO:0007009 ureterolithiasis skos:exactMatch ICD10CM:N20.1 Calculus of ureter semapv:UnspecifiedMatching MONDO:0007009 ureterolithiasis skos:exactMatch MEDGEN:21775 semapv:UnspecifiedMatching MONDO:0007009 ureterolithiasis skos:exactMatch NCIT:C114696 Ureterolithiasis semapv:UnspecifiedMatching MONDO:0007009 ureterolithiasis skos:exactMatch SCTID:31054009 semapv:UnspecifiedMatching MONDO:0007009 ureterolithiasis skos:exactMatch UMLS:C0041952 semapv:UnspecifiedMatching MONDO:0007009 ureterolithiasis skos:exactMatch mesh:D053039 semapv:UnspecifiedMatching MONDO:0007011 uveoparotid fever skos:exactMatch DOID:13404 uveoparotid fever semapv:UnspecifiedMatching MONDO:0007011 uveoparotid fever skos:exactMatch EFO:1001232 semapv:UnspecifiedMatching MONDO:0007011 uveoparotid fever skos:exactMatch MEDGEN:22600 semapv:UnspecifiedMatching MONDO:0007011 uveoparotid fever skos:exactMatch SCTID:4416007 semapv:UnspecifiedMatching MONDO:0007011 uveoparotid fever skos:exactMatch UMLS:C0042171 semapv:UnspecifiedMatching MONDO:0007011 uveoparotid fever skos:exactMatch icd11.foundation:2079034902 Uveoparotid fever semapv:UnspecifiedMatching MONDO:0007011 uveoparotid fever skos:exactMatch mesh:D014608 semapv:UnspecifiedMatching MONDO:0007012 variant Creutzfeldt-Jakob disease skos:exactMatch DOID:5435 variant Creutzfeldt-Jakob disease semapv:UnspecifiedMatching MONDO:0007012 variant Creutzfeldt-Jakob disease skos:exactMatch EFO:1001233 semapv:UnspecifiedMatching MONDO:0007012 variant Creutzfeldt-Jakob disease skos:exactMatch ICD10CM:A81.01 Variant Creutzfeldt-Jakob disease semapv:UnspecifiedMatching MONDO:0007012 variant Creutzfeldt-Jakob disease skos:exactMatch MEDGEN:138163 semapv:UnspecifiedMatching MONDO:0007012 variant Creutzfeldt-Jakob disease skos:exactMatch NCIT:C128438 Variant Creutzfeldt-Jakob Disease semapv:UnspecifiedMatching MONDO:0007012 variant Creutzfeldt-Jakob disease skos:exactMatch Orphanet:576370 Variant Creutzfeldt-Jakob disease semapv:UnspecifiedMatching MONDO:0007012 variant Creutzfeldt-Jakob disease skos:exactMatch SCTID:304603007 semapv:UnspecifiedMatching MONDO:0007012 variant Creutzfeldt-Jakob disease skos:exactMatch UMLS:C0376329 semapv:UnspecifiedMatching MONDO:0007012 variant Creutzfeldt-Jakob disease skos:exactMatch icd11.foundation:378572696 Variant Creutzfeldt-Jakob Disease semapv:UnspecifiedMatching MONDO:0007013 vasculogenic impotence skos:exactMatch DOID:4762 vasculogenic impotence semapv:UnspecifiedMatching MONDO:0007013 vasculogenic impotence skos:exactMatch MEDGEN:69309 semapv:UnspecifiedMatching MONDO:0007013 vasculogenic impotence skos:exactMatch UMLS:C0243000 semapv:UnspecifiedMatching MONDO:0007013 vasculogenic impotence skos:exactMatch mesh:D018783 semapv:UnspecifiedMatching MONDO:0007014 vibrio infectious disease skos:exactMatch EFO:1001235 semapv:UnspecifiedMatching MONDO:0007014 vibrio infectious disease skos:exactMatch MEDGEN:53010 semapv:UnspecifiedMatching MONDO:0007014 vibrio infectious disease skos:exactMatch UMLS:C0042636 semapv:UnspecifiedMatching MONDO:0007014 vibrio infectious disease skos:exactMatch mesh:D014735 semapv:UnspecifiedMatching MONDO:0007015 viral meningitis skos:exactMatch DOID:10310 viral meningitis semapv:UnspecifiedMatching MONDO:0007015 viral meningitis skos:exactMatch EFO:1001236 semapv:UnspecifiedMatching MONDO:0007015 viral meningitis skos:exactMatch ICD10CM:A87 Viral meningitis semapv:UnspecifiedMatching MONDO:0007015 viral meningitis skos:exactMatch ICD10WHO:A87 Viral meningitis semapv:UnspecifiedMatching MONDO:0007015 viral meningitis skos:exactMatch MEDGEN:44355 semapv:UnspecifiedMatching MONDO:0007015 viral meningitis skos:exactMatch NCIT:C118298 Viral Meningitis semapv:UnspecifiedMatching MONDO:0007015 viral meningitis skos:exactMatch SCTID:58170007 semapv:UnspecifiedMatching MONDO:0007015 viral meningitis skos:exactMatch UMLS:C0025297 semapv:UnspecifiedMatching MONDO:0007015 viral meningitis skos:exactMatch mesh:D008587 semapv:UnspecifiedMatching MONDO:0007016 vitamin A deficiency skos:exactMatch EFO:1001237 semapv:UnspecifiedMatching MONDO:0007016 vitamin A deficiency skos:exactMatch ICD10CM:E50 Vitamin A deficiency semapv:UnspecifiedMatching MONDO:0007016 vitamin A deficiency skos:exactMatch ICD10WHO:E50 Vitamin A deficiency semapv:UnspecifiedMatching MONDO:0007016 vitamin A deficiency skos:exactMatch MEDGEN:22668 semapv:UnspecifiedMatching MONDO:0007016 vitamin A deficiency skos:exactMatch NCIT:C85220 Vitamin A Deficiency semapv:UnspecifiedMatching MONDO:0007016 vitamin A deficiency skos:exactMatch SCTID:72000004 semapv:UnspecifiedMatching MONDO:0007016 vitamin A deficiency skos:exactMatch UMLS:C0042842 semapv:UnspecifiedMatching MONDO:0007016 vitamin A deficiency skos:exactMatch icd11.foundation:435342452 Vitamin A deficiency semapv:UnspecifiedMatching MONDO:0007016 vitamin A deficiency skos:exactMatch mesh:D014802 semapv:UnspecifiedMatching MONDO:0007017 vitreous detachment skos:exactMatch DOID:9726 vitreous detachment semapv:UnspecifiedMatching MONDO:0007017 vitreous detachment skos:exactMatch EFO:1001238 semapv:UnspecifiedMatching MONDO:0007017 vitreous detachment skos:exactMatch MEDGEN:140839 semapv:UnspecifiedMatching MONDO:0007017 vitreous detachment skos:exactMatch NCIT:C50807 Vitreous Detachment semapv:UnspecifiedMatching MONDO:0007017 vitreous detachment skos:exactMatch SCTID:53772007 semapv:UnspecifiedMatching MONDO:0007017 vitreous detachment skos:exactMatch UMLS:C0423361 semapv:UnspecifiedMatching MONDO:0007017 vitreous detachment skos:exactMatch mesh:D020255 semapv:UnspecifiedMatching MONDO:0007018 vulvitis skos:exactMatch DOID:3901 vulvitis semapv:UnspecifiedMatching MONDO:0007018 vulvitis skos:exactMatch EFO:1001239 semapv:UnspecifiedMatching MONDO:0007018 vulvitis skos:exactMatch MEDGEN:22690 semapv:UnspecifiedMatching MONDO:0007018 vulvitis skos:exactMatch SCTID:63144007 semapv:UnspecifiedMatching MONDO:0007018 vulvitis skos:exactMatch UMLS:C0042996 semapv:UnspecifiedMatching MONDO:0007018 vulvitis skos:exactMatch icd11.foundation:727252860 Vulvitis semapv:UnspecifiedMatching MONDO:0007018 vulvitis skos:exactMatch mesh:D014847 semapv:UnspecifiedMatching MONDO:0007019 vulvovaginitis skos:exactMatch DOID:2273 vulvovaginitis semapv:UnspecifiedMatching MONDO:0007019 vulvovaginitis skos:exactMatch EFO:1001240 semapv:UnspecifiedMatching MONDO:0007019 vulvovaginitis skos:exactMatch MEDGEN:12129 semapv:UnspecifiedMatching MONDO:0007019 vulvovaginitis skos:exactMatch NCIT:C35131 Vulvovaginitis semapv:UnspecifiedMatching MONDO:0007019 vulvovaginitis skos:exactMatch SCTID:53277000 semapv:UnspecifiedMatching MONDO:0007019 vulvovaginitis skos:exactMatch UMLS:C0042998 semapv:UnspecifiedMatching MONDO:0007019 vulvovaginitis skos:exactMatch mesh:D014848 semapv:UnspecifiedMatching MONDO:0007020 Wernicke encephalopathy skos:exactMatch DOID:2384 Wernicke encephalopathy semapv:UnspecifiedMatching MONDO:0007020 Wernicke encephalopathy skos:exactMatch ICD10CM:E51.2 Wernicke's encephalopathy semapv:UnspecifiedMatching MONDO:0007020 Wernicke encephalopathy skos:exactMatch MEDGEN:53073 semapv:UnspecifiedMatching MONDO:0007020 Wernicke encephalopathy skos:exactMatch SCTID:21007002 semapv:UnspecifiedMatching MONDO:0007020 Wernicke encephalopathy skos:exactMatch UMLS:C0043121 semapv:UnspecifiedMatching MONDO:0007020 Wernicke encephalopathy skos:exactMatch icd11.foundation:1360335041 Wernicke encephalopathy semapv:UnspecifiedMatching MONDO:0007020 Wernicke encephalopathy skos:exactMatch mesh:D014899 semapv:UnspecifiedMatching MONDO:0007021 obsolete wheat allergic disease skos:exactMatch DOID:3660 wheat allergy semapv:UnspecifiedMatching MONDO:0007021 obsolete wheat allergic disease skos:exactMatch SCTID:420174000 semapv:UnspecifiedMatching MONDO:0007021 obsolete wheat allergic disease skos:exactMatch mesh:D021182 semapv:UnspecifiedMatching MONDO:0007022 xanthogranulomatous pyelonephritis skos:exactMatch DOID:11401 xanthogranulomatous pyelonephritis semapv:UnspecifiedMatching MONDO:0007022 xanthogranulomatous pyelonephritis skos:exactMatch EFO:1001244 semapv:UnspecifiedMatching MONDO:0007022 xanthogranulomatous pyelonephritis skos:exactMatch MEDGEN:19591 semapv:UnspecifiedMatching MONDO:0007022 xanthogranulomatous pyelonephritis skos:exactMatch NCIT:C123038 Xanthogranulomatous Pyelonephritis semapv:UnspecifiedMatching MONDO:0007022 xanthogranulomatous pyelonephritis skos:exactMatch SCTID:38898003 semapv:UnspecifiedMatching MONDO:0007022 xanthogranulomatous pyelonephritis skos:exactMatch UMLS:C0034188 semapv:UnspecifiedMatching MONDO:0007022 xanthogranulomatous pyelonephritis skos:exactMatch mesh:D011705 semapv:UnspecifiedMatching MONDO:0007023 Yersinia infectious disease skos:exactMatch EFO:1001245 semapv:UnspecifiedMatching MONDO:0007023 Yersinia infectious disease skos:exactMatch NCIT:C128337 Yersiniosis semapv:UnspecifiedMatching MONDO:0007023 Yersinia infectious disease skos:exactMatch SCTID:83436008 semapv:UnspecifiedMatching MONDO:0007023 Yersinia infectious disease skos:exactMatch mesh:D015009 semapv:UnspecifiedMatching MONDO:0007024 Yersinia pseudotuberculosis infectious disease skos:exactMatch EFO:1001246 semapv:UnspecifiedMatching MONDO:0007024 Yersinia pseudotuberculosis infectious disease skos:exactMatch MEDGEN:12190 semapv:UnspecifiedMatching MONDO:0007024 Yersinia pseudotuberculosis infectious disease skos:exactMatch Orphanet:659707 Yersinia pseudotuberculosis infection semapv:UnspecifiedMatching MONDO:0007024 Yersinia pseudotuberculosis infectious disease skos:exactMatch SCTID:36753006 semapv:UnspecifiedMatching MONDO:0007024 Yersinia pseudotuberculosis infectious disease skos:exactMatch UMLS:C0043410 semapv:UnspecifiedMatching MONDO:0007024 Yersinia pseudotuberculosis infectious disease skos:exactMatch mesh:D015012 semapv:UnspecifiedMatching MONDO:0007025 chancre skos:exactMatch EFO:1001247 semapv:UnspecifiedMatching MONDO:0007025 chancre skos:exactMatch MEDGEN:671172 semapv:UnspecifiedMatching MONDO:0007025 chancre skos:exactMatch UMLS:C0600049 semapv:UnspecifiedMatching MONDO:0007025 chancre skos:exactMatch mesh:D002601 semapv:UnspecifiedMatching MONDO:0007027 metabolic dysfunction-associated steatohepatitis skos:exactMatch DOID:0080547 metabolic dysfunction-associated steatohepatitis semapv:UnspecifiedMatching MONDO:0007027 metabolic dysfunction-associated steatohepatitis skos:exactMatch EFO:1001249 semapv:UnspecifiedMatching MONDO:0007027 metabolic dysfunction-associated steatohepatitis skos:exactMatch ICD10CM:K75.81 Nonalcoholic steatohepatitis (NASH) semapv:UnspecifiedMatching MONDO:0007027 metabolic dysfunction-associated steatohepatitis skos:exactMatch MEDGEN:469032 semapv:UnspecifiedMatching MONDO:0007027 metabolic dysfunction-associated steatohepatitis skos:exactMatch NCIT:C84445 Metabolic Dysfunction-Associated Steatohepatitis semapv:UnspecifiedMatching MONDO:0007027 metabolic dysfunction-associated steatohepatitis skos:exactMatch UMLS:C3241937 semapv:UnspecifiedMatching MONDO:0007027 metabolic dysfunction-associated steatohepatitis skos:exactMatch icd11.foundation:1884917970 Non-alcoholic steatohepatitis semapv:UnspecifiedMatching MONDO:0007028 rotator cuff syndrome skos:exactMatch EFO:1001250 semapv:UnspecifiedMatching MONDO:0007028 rotator cuff syndrome skos:exactMatch ICD10CM:M75.1 Rotator cuff tear or rupture, not specified as traumatic semapv:UnspecifiedMatching MONDO:0007028 rotator cuff syndrome skos:exactMatch ICD10WHO:M75.1 Rotator cuff syndrome semapv:UnspecifiedMatching MONDO:0007028 rotator cuff syndrome skos:exactMatch MEDGEN:538186 semapv:UnspecifiedMatching MONDO:0007028 rotator cuff syndrome skos:exactMatch SCTID:4106009 semapv:UnspecifiedMatching MONDO:0007028 rotator cuff syndrome skos:exactMatch UMLS:C0263912 semapv:UnspecifiedMatching MONDO:0007028 rotator cuff syndrome skos:exactMatch icd11.foundation:1471943310 Rotator cuff syndrome semapv:UnspecifiedMatching MONDO:0007029 branchio-oto-renal syndrome skos:exactMatch DOID:14702 branchiootorenal syndrome semapv:UnspecifiedMatching MONDO:0007029 branchio-oto-renal syndrome skos:exactMatch MEDGEN:82693 semapv:UnspecifiedMatching MONDO:0007029 branchio-oto-renal syndrome skos:exactMatch NCIT:C98983 Melnick-Fraser Syndrome semapv:UnspecifiedMatching MONDO:0007029 branchio-oto-renal syndrome skos:exactMatch OMIMPS:113650 Branchiootorenal syndrome semapv:UnspecifiedMatching MONDO:0007029 branchio-oto-renal syndrome skos:exactMatch Orphanet:107 BOR syndrome semapv:UnspecifiedMatching MONDO:0007029 branchio-oto-renal syndrome skos:exactMatch SCTID:290006 semapv:UnspecifiedMatching MONDO:0007029 branchio-oto-renal syndrome skos:exactMatch UMLS:C0265234 semapv:UnspecifiedMatching MONDO:0007029 branchio-oto-renal syndrome skos:exactMatch icd11.foundation:504227287 Branchio-oto-renal syndrome semapv:UnspecifiedMatching MONDO:0007029 branchio-oto-renal syndrome skos:exactMatch mesh:D019280 semapv:UnspecifiedMatching MONDO:0007030 autosomal dominant Aarskog syndrome skos:exactMatch DOID:0111825 autosomal dominant Aarskog syndrome semapv:UnspecifiedMatching MONDO:0007030 autosomal dominant Aarskog syndrome skos:exactMatch MEDGEN:460570 semapv:UnspecifiedMatching MONDO:0007030 autosomal dominant Aarskog syndrome skos:exactMatch OMIM:100050 aarskog syndrome, autosomal dominant semapv:UnspecifiedMatching MONDO:0007030 autosomal dominant Aarskog syndrome skos:exactMatch UMLS:C3149220 semapv:UnspecifiedMatching MONDO:0007031 familial abdominal aortic aneurysm skos:exactMatch MEDGEN:896628 semapv:UnspecifiedMatching MONDO:0007031 familial abdominal aortic aneurysm skos:exactMatch OMIMPS:100070 Aortic aneurysm, familial abdominal semapv:UnspecifiedMatching MONDO:0007031 familial abdominal aortic aneurysm skos:exactMatch Orphanet:86 Familial abdominal aortic aneurysm semapv:UnspecifiedMatching MONDO:0007031 familial abdominal aortic aneurysm skos:exactMatch SCTID:715364001 semapv:UnspecifiedMatching MONDO:0007031 familial abdominal aortic aneurysm skos:exactMatch UMLS:C4275172 semapv:UnspecifiedMatching MONDO:0007031 familial abdominal aortic aneurysm skos:exactMatch icd11.foundation:556590106 Familial abdominal aortic aneurysm semapv:UnspecifiedMatching MONDO:0007032 prune belly syndrome skos:exactMatch DOID:0060889 prune belly syndrome semapv:UnspecifiedMatching MONDO:0007032 prune belly syndrome skos:exactMatch ICD10CM:Q79.4 Prune belly syndrome semapv:UnspecifiedMatching MONDO:0007032 prune belly syndrome skos:exactMatch MEDGEN:18718 semapv:UnspecifiedMatching MONDO:0007032 prune belly syndrome skos:exactMatch NCIT:C85033 Prune Belly Syndrome semapv:UnspecifiedMatching MONDO:0007032 prune belly syndrome skos:exactMatch OMIM:100100 prune belly syndrome semapv:UnspecifiedMatching MONDO:0007032 prune belly syndrome skos:exactMatch Orphanet:2970 Prune belly syndrome semapv:UnspecifiedMatching MONDO:0007032 prune belly syndrome skos:exactMatch SCTID:5187006 semapv:UnspecifiedMatching MONDO:0007032 prune belly syndrome skos:exactMatch UMLS:C0033770 semapv:UnspecifiedMatching MONDO:0007032 prune belly syndrome skos:exactMatch icd11.foundation:1393408621 Prune belly syndrome semapv:UnspecifiedMatching MONDO:0007032 prune belly syndrome skos:exactMatch mesh:D011535 semapv:UnspecifiedMatching MONDO:0007033 abducens nerve palsy skos:exactMatch DOID:10865 abducens nerve palsy semapv:UnspecifiedMatching MONDO:0007033 abducens nerve palsy skos:exactMatch MEDGEN:1645218 semapv:UnspecifiedMatching MONDO:0007033 abducens nerve palsy skos:exactMatch NCIT:C27592 Abducens Nerve Paralysis semapv:UnspecifiedMatching MONDO:0007033 abducens nerve palsy skos:exactMatch OMIM:100200 abducens palsy semapv:UnspecifiedMatching MONDO:0007033 abducens nerve palsy skos:exactMatch SCTID:398963001 semapv:UnspecifiedMatching MONDO:0007033 abducens nerve palsy skos:exactMatch UMLS:C4551519 semapv:UnspecifiedMatching MONDO:0007033 abducens nerve palsy skos:exactMatch icd11.foundation:2004845959 Abducens nerve palsy semapv:UnspecifiedMatching MONDO:0007034 Adams-Oliver syndrome skos:exactMatch DOID:0060227 Adams-Oliver syndrome semapv:UnspecifiedMatching MONDO:0007034 Adams-Oliver syndrome skos:exactMatch MEDGEN:78544 semapv:UnspecifiedMatching MONDO:0007034 Adams-Oliver syndrome skos:exactMatch OMIMPS:100300 Adams-Oliver syndrome semapv:UnspecifiedMatching MONDO:0007034 Adams-Oliver syndrome skos:exactMatch Orphanet:974 Adams-Oliver syndrome semapv:UnspecifiedMatching MONDO:0007034 Adams-Oliver syndrome skos:exactMatch SCTID:34748004 semapv:UnspecifiedMatching MONDO:0007034 Adams-Oliver syndrome skos:exactMatch UMLS:C0265268 semapv:UnspecifiedMatching MONDO:0007034 Adams-Oliver syndrome skos:exactMatch icd11.foundation:745972142 Adams-Oliver syndrome semapv:UnspecifiedMatching MONDO:0007034 Adams-Oliver syndrome skos:exactMatch mesh:C538225 semapv:UnspecifiedMatching MONDO:0007035 acanthosis nigricans skos:exactMatch DOID:3138 acanthosis nigricans semapv:UnspecifiedMatching MONDO:0007035 acanthosis nigricans skos:exactMatch EFO:1000660 semapv:UnspecifiedMatching MONDO:0007035 acanthosis nigricans skos:exactMatch ICD10CM:L83 Acanthosis nigricans semapv:UnspecifiedMatching MONDO:0007035 acanthosis nigricans skos:exactMatch ICD10WHO:L83 Acanthosis nigricans semapv:UnspecifiedMatching MONDO:0007035 acanthosis nigricans skos:exactMatch MEDGEN:54 semapv:UnspecifiedMatching MONDO:0007035 acanthosis nigricans skos:exactMatch NCIT:C26687 Acanthosis Nigricans semapv:UnspecifiedMatching MONDO:0007035 acanthosis nigricans skos:exactMatch SCTID:402599005 semapv:UnspecifiedMatching MONDO:0007035 acanthosis nigricans skos:exactMatch UMLS:C0000889 semapv:UnspecifiedMatching MONDO:0007035 acanthosis nigricans skos:exactMatch icd11.foundation:71488193 Acanthosis nigricans semapv:UnspecifiedMatching MONDO:0007035 acanthosis nigricans skos:exactMatch mesh:D000052 semapv:UnspecifiedMatching MONDO:0007036 Achard syndrome skos:exactMatch DOID:6686 Achard syndrome semapv:UnspecifiedMatching MONDO:0007036 Achard syndrome skos:exactMatch MEDGEN:272277 semapv:UnspecifiedMatching MONDO:0007036 Achard syndrome skos:exactMatch NCIT:C35809 Achard Syndrome semapv:UnspecifiedMatching MONDO:0007036 Achard syndrome skos:exactMatch OMIM:100700 achard syndrome semapv:UnspecifiedMatching MONDO:0007036 Achard syndrome skos:exactMatch UMLS:C1332135 semapv:UnspecifiedMatching MONDO:0007036 Achard syndrome skos:exactMatch mesh:C536012 semapv:UnspecifiedMatching MONDO:0007037 achondroplasia skos:exactMatch DOID:4480 achondroplasia semapv:UnspecifiedMatching MONDO:0007037 achondroplasia skos:exactMatch ICD10CM:Q77.4 Achondroplasia semapv:UnspecifiedMatching MONDO:0007037 achondroplasia skos:exactMatch MEDGEN:1289 semapv:UnspecifiedMatching MONDO:0007037 achondroplasia skos:exactMatch NCIT:C34345 Achondroplasia semapv:UnspecifiedMatching MONDO:0007037 achondroplasia skos:exactMatch OMIM:100800 achondroplasia semapv:UnspecifiedMatching MONDO:0007037 achondroplasia skos:exactMatch Orphanet:15 Achondroplasia semapv:UnspecifiedMatching MONDO:0007037 achondroplasia skos:exactMatch SCTID:86268005 semapv:UnspecifiedMatching MONDO:0007037 achondroplasia skos:exactMatch UMLS:C0001080 semapv:UnspecifiedMatching MONDO:0007037 achondroplasia skos:exactMatch icd11.foundation:24224082 Achondroplasia semapv:UnspecifiedMatching MONDO:0007037 achondroplasia skos:exactMatch mesh:D000130 semapv:UnspecifiedMatching MONDO:0007038 Achoo syndrome skos:exactMatch MEDGEN:400287 semapv:UnspecifiedMatching MONDO:0007038 Achoo syndrome skos:exactMatch OMIM:100820 achoo syndrome semapv:UnspecifiedMatching MONDO:0007038 Achoo syndrome skos:exactMatch UMLS:C1863416 semapv:UnspecifiedMatching MONDO:0007038 Achoo syndrome skos:exactMatch mesh:C535300 semapv:UnspecifiedMatching MONDO:0007039 NF2-related schwannomatosis skos:exactMatch DOID:0111252 vestibular schwannomatosis semapv:UnspecifiedMatching MONDO:0007039 NF2-related schwannomatosis skos:exactMatch ICD10CM:Q85.02 Neurofibromatosis, type 2 semapv:UnspecifiedMatching MONDO:0007039 NF2-related schwannomatosis skos:exactMatch MEDGEN:18014 semapv:UnspecifiedMatching MONDO:0007039 NF2-related schwannomatosis skos:exactMatch NCIT:C3274 Neurofibromatosis Type 2 semapv:UnspecifiedMatching MONDO:0007039 NF2-related schwannomatosis skos:exactMatch OMIM:101000 schwannomatosis, vestibular semapv:UnspecifiedMatching MONDO:0007039 NF2-related schwannomatosis skos:exactMatch Orphanet:637 Full NF2-related schwannomatosis semapv:UnspecifiedMatching MONDO:0007039 NF2-related schwannomatosis skos:exactMatch SCTID:92503002 semapv:UnspecifiedMatching MONDO:0007039 NF2-related schwannomatosis skos:exactMatch UMLS:C0027832 semapv:UnspecifiedMatching MONDO:0007039 NF2-related schwannomatosis skos:exactMatch icd11.foundation:14808714 Neurofibromatosis type 2 semapv:UnspecifiedMatching MONDO:0007040 Sakati-Nyhan syndrome skos:exactMatch DOID:0060359 Sakati-Nyhan syndrome semapv:UnspecifiedMatching MONDO:0007040 Sakati-Nyhan syndrome skos:exactMatch MEDGEN:220889 semapv:UnspecifiedMatching MONDO:0007040 Sakati-Nyhan syndrome skos:exactMatch OMIM:101120 acrocephalopolysyndactyly type 3 semapv:UnspecifiedMatching MONDO:0007040 Sakati-Nyhan syndrome skos:exactMatch SCTID:403768004 semapv:UnspecifiedMatching MONDO:0007040 Sakati-Nyhan syndrome skos:exactMatch UMLS:C1275079 semapv:UnspecifiedMatching MONDO:0007040 Sakati-Nyhan syndrome skos:exactMatch mesh:C537227 semapv:UnspecifiedMatching MONDO:0007041 Apert syndrome skos:exactMatch MEDGEN:7858 semapv:UnspecifiedMatching MONDO:0007041 Apert syndrome skos:exactMatch NCIT:C99099 Type I Acrocephalosyndactyly semapv:UnspecifiedMatching MONDO:0007041 Apert syndrome skos:exactMatch OMIM:101200 apert syndrome semapv:UnspecifiedMatching MONDO:0007041 Apert syndrome skos:exactMatch Orphanet:87 Apert syndrome semapv:UnspecifiedMatching MONDO:0007041 Apert syndrome skos:exactMatch SCTID:205258009 semapv:UnspecifiedMatching MONDO:0007041 Apert syndrome skos:exactMatch UMLS:C0001193 semapv:UnspecifiedMatching MONDO:0007041 Apert syndrome skos:exactMatch icd11.foundation:1962779847 Apert syndrome semapv:UnspecifiedMatching MONDO:0007041 Apert syndrome skos:exactMatch mesh:D000168 semapv:UnspecifiedMatching MONDO:0007042 Saethre-Chotzen syndrome skos:exactMatch DOID:14768 Saethre-Chotzen syndrome semapv:UnspecifiedMatching MONDO:0007042 Saethre-Chotzen syndrome skos:exactMatch MEDGEN:64221 semapv:UnspecifiedMatching MONDO:0007042 Saethre-Chotzen syndrome skos:exactMatch NCIT:C75034 Type III Acrocephalosyndactyly semapv:UnspecifiedMatching MONDO:0007042 Saethre-Chotzen syndrome skos:exactMatch OMIM:101400 saethre-chotzen syndrome semapv:UnspecifiedMatching MONDO:0007042 Saethre-Chotzen syndrome skos:exactMatch Orphanet:794 Saethre-Chotzen syndrome semapv:UnspecifiedMatching MONDO:0007042 Saethre-Chotzen syndrome skos:exactMatch SCTID:83015004 semapv:UnspecifiedMatching MONDO:0007042 Saethre-Chotzen syndrome skos:exactMatch UMLS:C0175699 semapv:UnspecifiedMatching MONDO:0007042 Saethre-Chotzen syndrome skos:exactMatch icd11.foundation:2109857109 Saethre-Chotzen syndrome semapv:UnspecifiedMatching MONDO:0007043 Pfeiffer syndrome skos:exactMatch DOID:14705 Pfeiffer syndrome semapv:UnspecifiedMatching MONDO:0007043 Pfeiffer syndrome skos:exactMatch MEDGEN:67390 semapv:UnspecifiedMatching MONDO:0007043 Pfeiffer syndrome skos:exactMatch NCIT:C99100 Type V Acrocephalosyndactyly semapv:UnspecifiedMatching MONDO:0007043 Pfeiffer syndrome skos:exactMatch OMIM:101600 pfeiffer syndrome semapv:UnspecifiedMatching MONDO:0007043 Pfeiffer syndrome skos:exactMatch Orphanet:710 Pfeiffer syndrome semapv:UnspecifiedMatching MONDO:0007043 Pfeiffer syndrome skos:exactMatch SCTID:70410008 semapv:UnspecifiedMatching MONDO:0007043 Pfeiffer syndrome skos:exactMatch UMLS:C0220658 semapv:UnspecifiedMatching MONDO:0007043 Pfeiffer syndrome skos:exactMatch icd11.foundation:1075159878 Pfeiffer syndrome semapv:UnspecifiedMatching MONDO:0007044 Acrodysostosis 1 with or without hormone resistance skos:exactMatch MEDGEN:477858 semapv:UnspecifiedMatching MONDO:0007044 Acrodysostosis 1 with or without hormone resistance skos:exactMatch NCIT:C136464 Acrodysostosis 1 semapv:UnspecifiedMatching MONDO:0007044 Acrodysostosis 1 with or without hormone resistance skos:exactMatch OMIM:101800 acrodysostosis 1 with or without hormone resistance semapv:UnspecifiedMatching MONDO:0007044 Acrodysostosis 1 with or without hormone resistance skos:exactMatch UMLS:C3276228 semapv:UnspecifiedMatching MONDO:0007045 acrofacial dysostosis, Catania type skos:exactMatch DOID:0060384 acrofacial dysostosis, Catania type semapv:UnspecifiedMatching MONDO:0007045 acrofacial dysostosis, Catania type skos:exactMatch MEDGEN:419487 semapv:UnspecifiedMatching MONDO:0007045 acrofacial dysostosis, Catania type skos:exactMatch OMIM:101805 acrofacial dysostosis, catania type semapv:UnspecifiedMatching MONDO:0007045 acrofacial dysostosis, Catania type skos:exactMatch Orphanet:1786 Acrofacial dysostosis, Catania type semapv:UnspecifiedMatching MONDO:0007045 acrofacial dysostosis, Catania type skos:exactMatch SCTID:720419000 semapv:UnspecifiedMatching MONDO:0007045 acrofacial dysostosis, Catania type skos:exactMatch UMLS:C2931762 semapv:UnspecifiedMatching MONDO:0007045 acrofacial dysostosis, Catania type skos:exactMatch icd11.foundation:750680130 Acrofacial dysostosis, Catania type semapv:UnspecifiedMatching MONDO:0007045 acrofacial dysostosis, Catania type skos:exactMatch mesh:C538182 semapv:UnspecifiedMatching MONDO:0007046 hereditary papulotranslucent acrokeratoderma skos:exactMatch DOID:0060360 hereditary papulotranslucent acrokeratoderma semapv:UnspecifiedMatching MONDO:0007046 hereditary papulotranslucent acrokeratoderma skos:exactMatch EFO:1000708 semapv:UnspecifiedMatching MONDO:0007046 hereditary papulotranslucent acrokeratoderma skos:exactMatch MEDGEN:350144 semapv:UnspecifiedMatching MONDO:0007046 hereditary papulotranslucent acrokeratoderma skos:exactMatch OMIM:101840 acrokeratoderma, hereditary papulotranslucent semapv:UnspecifiedMatching MONDO:0007046 hereditary papulotranslucent acrokeratoderma skos:exactMatch UMLS:C1863343 semapv:UnspecifiedMatching MONDO:0007046 hereditary papulotranslucent acrokeratoderma skos:exactMatch mesh:C566323 semapv:UnspecifiedMatching MONDO:0007047 punctate palmoplantar keratoderma type III skos:exactMatch DOID:0060362 punctate palmoplantar keratoderma type III semapv:UnspecifiedMatching MONDO:0007047 punctate palmoplantar keratoderma type III skos:exactMatch EFO:1000758 semapv:UnspecifiedMatching MONDO:0007047 punctate palmoplantar keratoderma type III skos:exactMatch MEDGEN:107467 semapv:UnspecifiedMatching MONDO:0007047 punctate palmoplantar keratoderma type III skos:exactMatch OMIM:101850 palmoplantar keratoderma, punctate type 3 semapv:UnspecifiedMatching MONDO:0007047 punctate palmoplantar keratoderma type III skos:exactMatch Orphanet:38 Acrokeratoelastoidosis of Costa semapv:UnspecifiedMatching MONDO:0007047 punctate palmoplantar keratoderma type III skos:exactMatch UMLS:C0545044 semapv:UnspecifiedMatching MONDO:0007047 punctate palmoplantar keratoderma type III skos:exactMatch mesh:C535653 semapv:UnspecifiedMatching MONDO:0007048 acrokeratosis verruciformis skos:exactMatch DOID:0050606 acrokeratosis verruciformis semapv:UnspecifiedMatching MONDO:0007048 acrokeratosis verruciformis skos:exactMatch EFO:1000666 semapv:UnspecifiedMatching MONDO:0007048 acrokeratosis verruciformis skos:exactMatch MEDGEN:75589 semapv:UnspecifiedMatching MONDO:0007048 acrokeratosis verruciformis skos:exactMatch NCIT:C27519 Acrokeratosis Verruciformis semapv:UnspecifiedMatching MONDO:0007048 acrokeratosis verruciformis skos:exactMatch OMIM:101900 acrokeratosis verruciformis semapv:UnspecifiedMatching MONDO:0007048 acrokeratosis verruciformis skos:exactMatch Orphanet:79151 Acrokeratosis verruciformis of Hopf semapv:UnspecifiedMatching MONDO:0007048 acrokeratosis verruciformis skos:exactMatch SCTID:400085009 semapv:UnspecifiedMatching MONDO:0007048 acrokeratosis verruciformis skos:exactMatch UMLS:C0265971 semapv:UnspecifiedMatching MONDO:0007049 acroleukopathy, symmetric skos:exactMatch MEDGEN:350143 semapv:UnspecifiedMatching MONDO:0007049 acroleukopathy, symmetric skos:exactMatch OMIM:102000 acroleukopathy, symmetric semapv:UnspecifiedMatching MONDO:0007049 acroleukopathy, symmetric skos:exactMatch UMLS:C1863342 semapv:UnspecifiedMatching MONDO:0007049 acroleukopathy, symmetric skos:exactMatch mesh:C566322 semapv:UnspecifiedMatching MONDO:0007050 acromegaloid changes, cutis verticis gyrata, and corneal leukoma skos:exactMatch MEDGEN:231158 semapv:UnspecifiedMatching MONDO:0007050 acromegaloid changes, cutis verticis gyrata, and corneal leukoma skos:exactMatch OMIM:102100 acromegaloid changes, cutis verticis gyrata, and corneal leukoma semapv:UnspecifiedMatching MONDO:0007050 acromegaloid changes, cutis verticis gyrata, and corneal leukoma skos:exactMatch UMLS:C1321495 semapv:UnspecifiedMatching MONDO:0007050 acromegaloid changes, cutis verticis gyrata, and corneal leukoma skos:exactMatch mesh:C535654 semapv:UnspecifiedMatching MONDO:0007051 acromegaloid facial appearance syndrome skos:exactMatch MEDGEN:167116 semapv:UnspecifiedMatching MONDO:0007051 acromegaloid facial appearance syndrome skos:exactMatch OMIM:102150 acromegaloid facial appearance syndrome semapv:UnspecifiedMatching MONDO:0007051 acromegaloid facial appearance syndrome skos:exactMatch SCTID:720456009 semapv:UnspecifiedMatching MONDO:0007051 acromegaloid facial appearance syndrome skos:exactMatch UMLS:C0796280 semapv:UnspecifiedMatching MONDO:0007051 acromegaloid facial appearance syndrome skos:exactMatch mesh:C535655 semapv:UnspecifiedMatching MONDO:0007052 growth hormone secreting pituitary adenoma 1 skos:exactMatch DOID:0112009 pituitary adenoma 1 semapv:UnspecifiedMatching MONDO:0007052 growth hormone secreting pituitary adenoma 1 skos:exactMatch MEDGEN:1618709 semapv:UnspecifiedMatching MONDO:0007052 growth hormone secreting pituitary adenoma 1 skos:exactMatch OMIM:102200 pituitary adenoma 1, multiple types semapv:UnspecifiedMatching MONDO:0007052 growth hormone secreting pituitary adenoma 1 skos:exactMatch UMLS:C4538355 semapv:UnspecifiedMatching MONDO:0007053 restless legs syndrome, susceptibility to, 1 skos:exactMatch MEDGEN:360293 semapv:UnspecifiedMatching MONDO:0007053 restless legs syndrome, susceptibility to, 1 skos:exactMatch OMIM:102300 restless legs syndrome, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0007053 restless legs syndrome, susceptibility to, 1 skos:exactMatch UMLS:C1876177 semapv:UnspecifiedMatching MONDO:0007053 restless legs syndrome, susceptibility to, 1 skos:exactMatch mesh:C538443 semapv:UnspecifiedMatching MONDO:0007054 acromial dimples skos:exactMatch MEDGEN:869278 semapv:UnspecifiedMatching MONDO:0007054 acromial dimples skos:exactMatch OMIM:102350 acromial dimples semapv:UnspecifiedMatching MONDO:0007054 acromial dimples skos:exactMatch UMLS:C4023704 semapv:UnspecifiedMatching MONDO:0007055 Acromicric dysplasia skos:exactMatch DOID:0111243 acromicric dysplasia semapv:UnspecifiedMatching MONDO:0007055 Acromicric dysplasia skos:exactMatch MEDGEN:78549 semapv:UnspecifiedMatching MONDO:0007055 Acromicric dysplasia skos:exactMatch OMIM:102370 acromicric dysplasia semapv:UnspecifiedMatching MONDO:0007055 Acromicric dysplasia skos:exactMatch Orphanet:969 Acromicric dysplasia semapv:UnspecifiedMatching MONDO:0007055 Acromicric dysplasia skos:exactMatch SCTID:254090007 semapv:UnspecifiedMatching MONDO:0007055 Acromicric dysplasia skos:exactMatch UMLS:C0265287 semapv:UnspecifiedMatching MONDO:0007055 Acromicric dysplasia skos:exactMatch icd11.foundation:1006372687 Acromicric dysplasia semapv:UnspecifiedMatching MONDO:0007055 Acromicric dysplasia skos:exactMatch mesh:C535662 semapv:UnspecifiedMatching MONDO:0007056 acroosteolysis skos:exactMatch MEDGEN:183017 semapv:UnspecifiedMatching MONDO:0007056 acroosteolysis skos:exactMatch NCIT:C35545 Acroosteolysis semapv:UnspecifiedMatching MONDO:0007056 acroosteolysis skos:exactMatch OMIM:102400 acroosteolysis semapv:UnspecifiedMatching MONDO:0007056 acroosteolysis skos:exactMatch SCTID:27201004 semapv:UnspecifiedMatching MONDO:0007056 acroosteolysis skos:exactMatch UMLS:C0917990 semapv:UnspecifiedMatching MONDO:0007056 acroosteolysis skos:exactMatch mesh:D030981 semapv:UnspecifiedMatching MONDO:0007057 acroosteolysis dominant type skos:exactMatch DOID:2736 Hajdu-Cheney syndrome semapv:UnspecifiedMatching MONDO:0007057 acroosteolysis dominant type skos:exactMatch MEDGEN:182961 semapv:UnspecifiedMatching MONDO:0007057 acroosteolysis dominant type skos:exactMatch NCIT:C84745 Hajdu-Cheney Syndrome semapv:UnspecifiedMatching MONDO:0007057 acroosteolysis dominant type skos:exactMatch OMIM:102500 hajdu-cheney syndrome semapv:UnspecifiedMatching MONDO:0007057 acroosteolysis dominant type skos:exactMatch Orphanet:955 Hajdu-Cheney syndrome semapv:UnspecifiedMatching MONDO:0007057 acroosteolysis dominant type skos:exactMatch SCTID:63122002 semapv:UnspecifiedMatching MONDO:0007057 acroosteolysis dominant type skos:exactMatch UMLS:C0917715 semapv:UnspecifiedMatching MONDO:0007057 acroosteolysis dominant type skos:exactMatch mesh:C535663 semapv:UnspecifiedMatching MONDO:0007057 acroosteolysis dominant type skos:exactMatch mesh:C537586 semapv:UnspecifiedMatching MONDO:0007058 Acropectorovertebral dysplasia skos:exactMatch MEDGEN:400262 semapv:UnspecifiedMatching MONDO:0007058 Acropectorovertebral dysplasia skos:exactMatch OMIM:102510 acropectorovertebral dysplasia semapv:UnspecifiedMatching MONDO:0007058 Acropectorovertebral dysplasia skos:exactMatch Orphanet:957 Acropectorovertebral dysplasia semapv:UnspecifiedMatching MONDO:0007058 Acropectorovertebral dysplasia skos:exactMatch SCTID:720457000 semapv:UnspecifiedMatching MONDO:0007058 Acropectorovertebral dysplasia skos:exactMatch UMLS:C1863307 semapv:UnspecifiedMatching MONDO:0007058 Acropectorovertebral dysplasia skos:exactMatch icd11.foundation:1013313909 Acropectorovertebral dysplasia semapv:UnspecifiedMatching MONDO:0007058 Acropectorovertebral dysplasia skos:exactMatch mesh:C566319 semapv:UnspecifiedMatching MONDO:0007059 acrorenal syndrome skos:exactMatch DOID:0060347 acrorenal syndrome semapv:UnspecifiedMatching MONDO:0007059 acrorenal syndrome skos:exactMatch MEDGEN:501193 semapv:UnspecifiedMatching MONDO:0007059 acrorenal syndrome skos:exactMatch OMIM:102520 acrorenal syndrome semapv:UnspecifiedMatching MONDO:0007059 acrorenal syndrome skos:exactMatch Orphanet:971 Acrorenal syndrome semapv:UnspecifiedMatching MONDO:0007059 acrorenal syndrome skos:exactMatch SCTID:720458005 semapv:UnspecifiedMatching MONDO:0007059 acrorenal syndrome skos:exactMatch UMLS:C3495490 semapv:UnspecifiedMatching MONDO:0007059 acrorenal syndrome skos:exactMatch icd11.foundation:1948375645 Acrorenal syndrome semapv:UnspecifiedMatching MONDO:0007059 acrorenal syndrome skos:exactMatch mesh:C563159 semapv:UnspecifiedMatching MONDO:0007060 spermatogenic failure 6 skos:exactMatch DOID:0070167 spermatogenic failure 6 semapv:UnspecifiedMatching MONDO:0007060 spermatogenic failure 6 skos:exactMatch MEDGEN:900925 semapv:UnspecifiedMatching MONDO:0007060 spermatogenic failure 6 skos:exactMatch OMIM:102530 spermatogenic failure 6 semapv:UnspecifiedMatching MONDO:0007060 spermatogenic failure 6 skos:exactMatch SCTID:236818008 semapv:UnspecifiedMatching MONDO:0007060 spermatogenic failure 6 skos:exactMatch UMLS:C4225503 semapv:UnspecifiedMatching MONDO:0007061 obsolete acylase, cobalt-activated skos:exactMatch OMIM:102590 semapv:UnspecifiedMatching MONDO:0007062 adactylia, unilateral skos:exactMatch MEDGEN:113098 semapv:UnspecifiedMatching MONDO:0007062 adactylia, unilateral skos:exactMatch OMIM:102650 adactylia, unilateral semapv:UnspecifiedMatching MONDO:0007062 adactylia, unilateral skos:exactMatch Orphanet:973 Isolated absence/hypoplasia of fingers excluding thumb, unilateral semapv:UnspecifiedMatching MONDO:0007062 adactylia, unilateral skos:exactMatch UMLS:C0220660 semapv:UnspecifiedMatching MONDO:0007062 adactylia, unilateral skos:exactMatch mesh:C562417 semapv:UnspecifiedMatching MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:exactMatch DOID:5810 adenosine deaminase deficiency semapv:UnspecifiedMatching MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:exactMatch MEDGEN:95935 semapv:UnspecifiedMatching MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:exactMatch NCIT:C3962 Adenosine Deaminase Deficiency semapv:UnspecifiedMatching MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:exactMatch OMIM:102700 severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-negative, nk cell-negative, due to adenosine deaminase deficiency semapv:UnspecifiedMatching MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:exactMatch Orphanet:277 Severe combined immunodeficiency due to adenosine deaminase deficiency semapv:UnspecifiedMatching MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:exactMatch SCTID:44940001 semapv:UnspecifiedMatching MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:exactMatch UMLS:C0392607 semapv:UnspecifiedMatching MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:exactMatch mesh:C531816 semapv:UnspecifiedMatching MONDO:0007066 adenosine triphosphatase deficiency, anemia due to skos:exactMatch MEDGEN:350115 semapv:UnspecifiedMatching MONDO:0007066 adenosine triphosphatase deficiency, anemia due to skos:exactMatch SCTID:725057008 semapv:UnspecifiedMatching MONDO:0007066 adenosine triphosphatase deficiency, anemia due to skos:exactMatch UMLS:C1863225 semapv:UnspecifiedMatching MONDO:0007066 adenosine triphosphatase deficiency, anemia due to skos:exactMatch mesh:C566311 semapv:UnspecifiedMatching MONDO:0007067 pyruvate kinase hyperactivity skos:exactMatch EFO:0005840 semapv:UnspecifiedMatching MONDO:0007067 pyruvate kinase hyperactivity skos:exactMatch MEDGEN:350114 semapv:UnspecifiedMatching MONDO:0007067 pyruvate kinase hyperactivity skos:exactMatch OMIM:102900 adenosine triphosphate, elevated, of erythrocytes semapv:UnspecifiedMatching MONDO:0007067 pyruvate kinase hyperactivity skos:exactMatch UMLS:C1863224 semapv:UnspecifiedMatching MONDO:0007067 pyruvate kinase hyperactivity skos:exactMatch mesh:C566310 semapv:UnspecifiedMatching MONDO:0007068 adenylosuccinate lyase deficiency skos:exactMatch DOID:0050762 adenylosuccinase lyase deficiency semapv:UnspecifiedMatching MONDO:0007068 adenylosuccinate lyase deficiency skos:exactMatch MEDGEN:78641 semapv:UnspecifiedMatching MONDO:0007068 adenylosuccinate lyase deficiency skos:exactMatch OMIM:103050 adenylosuccinase deficiency semapv:UnspecifiedMatching MONDO:0007068 adenylosuccinate lyase deficiency skos:exactMatch Orphanet:46 Adenylosuccinate lyase deficiency semapv:UnspecifiedMatching MONDO:0007068 adenylosuccinate lyase deficiency skos:exactMatch SCTID:15285008 semapv:UnspecifiedMatching MONDO:0007068 adenylosuccinate lyase deficiency skos:exactMatch UMLS:C0268126 semapv:UnspecifiedMatching MONDO:0007068 adenylosuccinate lyase deficiency skos:exactMatch icd11.foundation:1725611919 Adenylosuccinate lyase deficiency semapv:UnspecifiedMatching MONDO:0007068 adenylosuccinate lyase deficiency skos:exactMatch mesh:C538235 semapv:UnspecifiedMatching MONDO:0007070 adiposis dolorosa skos:exactMatch DOID:3928 adiposis dolorosa semapv:UnspecifiedMatching MONDO:0007070 adiposis dolorosa skos:exactMatch EFO:1000667 semapv:UnspecifiedMatching MONDO:0007070 adiposis dolorosa skos:exactMatch MEDGEN:1757 semapv:UnspecifiedMatching MONDO:0007070 adiposis dolorosa skos:exactMatch NCIT:C84540 Adiposis Dolorosa semapv:UnspecifiedMatching MONDO:0007070 adiposis dolorosa skos:exactMatch OMIM:103200 adiposis dolorosa semapv:UnspecifiedMatching MONDO:0007070 adiposis dolorosa skos:exactMatch Orphanet:36397 Adiposis dolorosa semapv:UnspecifiedMatching MONDO:0007070 adiposis dolorosa skos:exactMatch SCTID:71404003 semapv:UnspecifiedMatching MONDO:0007070 adiposis dolorosa skos:exactMatch UMLS:C0001529 semapv:UnspecifiedMatching MONDO:0007070 adiposis dolorosa skos:exactMatch mesh:D000274 semapv:UnspecifiedMatching MONDO:0007071 adrenocortical hypofunction, chronic primary congenital skos:exactMatch MEDGEN:78784 semapv:UnspecifiedMatching MONDO:0007071 adrenocortical hypofunction, chronic primary congenital skos:exactMatch OMIM:103230 adrenocortical hypofunction, chronic primary congenital semapv:UnspecifiedMatching MONDO:0007071 adrenocortical hypofunction, chronic primary congenital skos:exactMatch SCTID:12427005 semapv:UnspecifiedMatching MONDO:0007071 adrenocortical hypofunction, chronic primary congenital skos:exactMatch UMLS:C0271740 semapv:UnspecifiedMatching MONDO:0007071 adrenocortical hypofunction, chronic primary congenital skos:exactMatch mesh:C562711 semapv:UnspecifiedMatching MONDO:0007072 ADULT syndrome skos:exactMatch DOID:0050601 ADULT syndrome semapv:UnspecifiedMatching MONDO:0007072 ADULT syndrome skos:exactMatch MEDGEN:400232 semapv:UnspecifiedMatching MONDO:0007072 ADULT syndrome skos:exactMatch OMIM:103285 adult syndrome semapv:UnspecifiedMatching MONDO:0007072 ADULT syndrome skos:exactMatch Orphanet:978 ADULT syndrome semapv:UnspecifiedMatching MONDO:0007072 ADULT syndrome skos:exactMatch SCTID:720464003 semapv:UnspecifiedMatching MONDO:0007072 ADULT syndrome skos:exactMatch UMLS:C1863204 semapv:UnspecifiedMatching MONDO:0007072 ADULT syndrome skos:exactMatch icd11.foundation:1445741645 ADULT syndrome semapv:UnspecifiedMatching MONDO:0007072 ADULT syndrome skos:exactMatch mesh:C538052 semapv:UnspecifiedMatching MONDO:0007073 Hypoglossia-hypodactyly syndrome skos:exactMatch MEDGEN:354928 semapv:UnspecifiedMatching MONDO:0007073 Hypoglossia-hypodactyly syndrome skos:exactMatch OMIM:103300 hypoglossia-hypodactylia semapv:UnspecifiedMatching MONDO:0007073 Hypoglossia-hypodactyly syndrome skos:exactMatch Orphanet:989 Hypoglossia-hypodactyly syndrome semapv:UnspecifiedMatching MONDO:0007073 Hypoglossia-hypodactyly syndrome skos:exactMatch SCTID:35031005 semapv:UnspecifiedMatching MONDO:0007073 Hypoglossia-hypodactyly syndrome skos:exactMatch UMLS:C1863203 semapv:UnspecifiedMatching MONDO:0007074 ainhum skos:exactMatch DOID:11329 ainhum semapv:UnspecifiedMatching MONDO:0007074 ainhum skos:exactMatch ICD10CM:L94.6 Ainhum semapv:UnspecifiedMatching MONDO:0007074 ainhum skos:exactMatch MEDGEN:1381 semapv:UnspecifiedMatching MONDO:0007074 ainhum skos:exactMatch NCIT:C84544 Ainhum semapv:UnspecifiedMatching MONDO:0007074 ainhum skos:exactMatch OMIM:103400 ainhum semapv:UnspecifiedMatching MONDO:0007074 ainhum skos:exactMatch SCTID:38528001 semapv:UnspecifiedMatching MONDO:0007074 ainhum skos:exactMatch UMLS:C0001860 semapv:UnspecifiedMatching MONDO:0007074 ainhum skos:exactMatch icd11.foundation:1138885521 Ainhum semapv:UnspecifiedMatching MONDO:0007074 ainhum skos:exactMatch mesh:D000387 semapv:UnspecifiedMatching MONDO:0007075 alacrima, congenital, autosomal dominant skos:exactMatch MEDGEN:934803 semapv:UnspecifiedMatching MONDO:0007075 alacrima, congenital, autosomal dominant skos:exactMatch OMIM:103420 alacrima, congenital, autosomal dominant semapv:UnspecifiedMatching MONDO:0007075 alacrima, congenital, autosomal dominant skos:exactMatch UMLS:C4310836 semapv:UnspecifiedMatching MONDO:0007075 alacrima, congenital, autosomal dominant skos:exactMatch mesh:C566307 semapv:UnspecifiedMatching MONDO:0007077 Tietz syndrome skos:exactMatch DOID:0090002 Tietz syndrome semapv:UnspecifiedMatching MONDO:0007077 Tietz syndrome skos:exactMatch MEDGEN:98213 semapv:UnspecifiedMatching MONDO:0007077 Tietz syndrome skos:exactMatch OMIM:103500 tietz albinism-deafness syndrome semapv:UnspecifiedMatching MONDO:0007077 Tietz syndrome skos:exactMatch Orphanet:42665 Tietz syndrome semapv:UnspecifiedMatching MONDO:0007077 Tietz syndrome skos:exactMatch SCTID:403805009 semapv:UnspecifiedMatching MONDO:0007077 Tietz syndrome skos:exactMatch UMLS:C0391816 semapv:UnspecifiedMatching MONDO:0007077 Tietz syndrome skos:exactMatch mesh:C536919 semapv:UnspecifiedMatching MONDO:0007078 pseudohypoparathyroidism type 1A skos:exactMatch DOID:0080053 pseudohypoparathyroidism type 1A semapv:UnspecifiedMatching MONDO:0007078 pseudohypoparathyroidism type 1A skos:exactMatch MEDGEN:488447 semapv:UnspecifiedMatching MONDO:0007078 pseudohypoparathyroidism type 1A skos:exactMatch NCIT:C129721 Albright Hereditary Osteodystrophy with Multiple Hormone Resistance semapv:UnspecifiedMatching MONDO:0007078 pseudohypoparathyroidism type 1A skos:exactMatch OMIM:103580 pseudohypoparathyroidism, type 1a semapv:UnspecifiedMatching MONDO:0007078 pseudohypoparathyroidism type 1A skos:exactMatch Orphanet:79443 Pseudohypoparathyroidism type 1A semapv:UnspecifiedMatching MONDO:0007078 pseudohypoparathyroidism type 1A skos:exactMatch SCTID:58833000 semapv:UnspecifiedMatching MONDO:0007078 pseudohypoparathyroidism type 1A skos:exactMatch UMLS:C3494506 semapv:UnspecifiedMatching MONDO:0007078 pseudohypoparathyroidism type 1A skos:exactMatch icd11.foundation:1513156369 Pseudohypoparathyroidism type 1A semapv:UnspecifiedMatching MONDO:0007078 pseudohypoparathyroidism type 1A skos:exactMatch mesh:C537045 semapv:UnspecifiedMatching MONDO:0007079 alcohol dependence skos:exactMatch DOID:0050741 alcohol dependence semapv:UnspecifiedMatching MONDO:0007079 alcohol dependence skos:exactMatch ICD10CM:F10.2 Alcohol dependence semapv:UnspecifiedMatching MONDO:0007079 alcohol dependence skos:exactMatch MEDGEN:1801 semapv:UnspecifiedMatching MONDO:0007079 alcohol dependence skos:exactMatch NCIT:C93040 Alcohol Dependence semapv:UnspecifiedMatching MONDO:0007079 alcohol dependence skos:exactMatch OMIM:103780 alcohol dependence semapv:UnspecifiedMatching MONDO:0007079 alcohol dependence skos:exactMatch SCTID:66590003 semapv:UnspecifiedMatching MONDO:0007079 alcohol dependence skos:exactMatch UMLS:C0001973 semapv:UnspecifiedMatching MONDO:0007079 alcohol dependence skos:exactMatch icd11.foundation:1580466198 Alcohol dependence semapv:UnspecifiedMatching MONDO:0007080 glucocorticoid-remediable aldosteronism skos:exactMatch DOID:14080 glucocorticoid-remediable aldosteronism semapv:UnspecifiedMatching MONDO:0007080 glucocorticoid-remediable aldosteronism skos:exactMatch ICD10CM:E26.02 Glucocorticoid-remediable aldosteronism semapv:UnspecifiedMatching MONDO:0007080 glucocorticoid-remediable aldosteronism skos:exactMatch MEDGEN:824577 semapv:UnspecifiedMatching MONDO:0007080 glucocorticoid-remediable aldosteronism skos:exactMatch OMIM:103900 hyperaldosteronism, familial, type 1 semapv:UnspecifiedMatching MONDO:0007080 glucocorticoid-remediable aldosteronism skos:exactMatch Orphanet:403 Familial hyperaldosteronism type I semapv:UnspecifiedMatching MONDO:0007080 glucocorticoid-remediable aldosteronism skos:exactMatch UMLS:C3838731 semapv:UnspecifiedMatching MONDO:0007080 glucocorticoid-remediable aldosteronism skos:exactMatch mesh:C563177 semapv:UnspecifiedMatching MONDO:0007082 alopecia areata 1 skos:exactMatch MEDGEN:400208 semapv:UnspecifiedMatching MONDO:0007082 alopecia areata 1 skos:exactMatch OMIM:104000 alopecia areata 1 semapv:UnspecifiedMatching MONDO:0007082 alopecia areata 1 skos:exactMatch UMLS:C1863094 semapv:UnspecifiedMatching MONDO:0007082 alopecia areata 1 skos:exactMatch mesh:C566303 semapv:UnspecifiedMatching MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia skos:exactMatch DOID:0111244 palmoplantar keratoderma and congenital alopecia 1 semapv:UnspecifiedMatching MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia skos:exactMatch MEDGEN:930338 semapv:UnspecifiedMatching MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia skos:exactMatch OMIM:104100 palmoplantar keratoderma and congenital alopecia 1 semapv:UnspecifiedMatching MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia skos:exactMatch Orphanet:1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia semapv:UnspecifiedMatching MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia skos:exactMatch SCTID:719518004 semapv:UnspecifiedMatching MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia skos:exactMatch UMLS:C4304669 semapv:UnspecifiedMatching MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia skos:exactMatch icd11.foundation:1745113656 Autosomal dominant palmoplantar keratoderma and congenital alopecia semapv:UnspecifiedMatching MONDO:0007084 familial focal alopecia skos:exactMatch MEDGEN:350835 semapv:UnspecifiedMatching MONDO:0007084 familial focal alopecia skos:exactMatch OMIM:104110 alopecia, familial focal semapv:UnspecifiedMatching MONDO:0007084 familial focal alopecia skos:exactMatch UMLS:C1863092 semapv:UnspecifiedMatching MONDO:0007084 familial focal alopecia skos:exactMatch mesh:C566301 semapv:UnspecifiedMatching MONDO:0007085 alopecia-epilepsy-pyorrhea-intellectual disability syndrome skos:exactMatch MEDGEN:350833 semapv:UnspecifiedMatching MONDO:0007085 alopecia-epilepsy-pyorrhea-intellectual disability syndrome skos:exactMatch OMIM:104130 alopecia, psychomotor epilepsy, pyorrhea, and mental subnormality semapv:UnspecifiedMatching MONDO:0007085 alopecia-epilepsy-pyorrhea-intellectual disability syndrome skos:exactMatch Orphanet:1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0007085 alopecia-epilepsy-pyorrhea-intellectual disability syndrome skos:exactMatch SCTID:720980004 semapv:UnspecifiedMatching MONDO:0007085 alopecia-epilepsy-pyorrhea-intellectual disability syndrome skos:exactMatch UMLS:C1863090 semapv:UnspecifiedMatching MONDO:0007085 alopecia-epilepsy-pyorrhea-intellectual disability syndrome skos:exactMatch mesh:C537057 semapv:UnspecifiedMatching MONDO:0007086 autosomal dominant Alport syndrome skos:exactMatch DOID:0110032 autosomal dominant Alport syndrome 3A semapv:UnspecifiedMatching MONDO:0007086 autosomal dominant Alport syndrome skos:exactMatch MEDGEN:1848787 semapv:UnspecifiedMatching MONDO:0007086 autosomal dominant Alport syndrome skos:exactMatch OMIM:104200 alport syndrome 3a, autosomal dominant semapv:UnspecifiedMatching MONDO:0007086 autosomal dominant Alport syndrome skos:exactMatch Orphanet:88918 Autosomal dominant Alport syndrome semapv:UnspecifiedMatching MONDO:0007086 autosomal dominant Alport syndrome skos:exactMatch SCTID:717766000 semapv:UnspecifiedMatching MONDO:0007086 autosomal dominant Alport syndrome skos:exactMatch UMLS:C5882663 semapv:UnspecifiedMatching MONDO:0007087 alternating hemiplegia of childhood 1 skos:exactMatch MEDGEN:762361 semapv:UnspecifiedMatching MONDO:0007087 alternating hemiplegia of childhood 1 skos:exactMatch OMIM:104290 alternating hemiplegia of childhood 1 semapv:UnspecifiedMatching MONDO:0007087 alternating hemiplegia of childhood 1 skos:exactMatch UMLS:C3549447 semapv:UnspecifiedMatching MONDO:0007088 Alzheimer disease type 1 skos:exactMatch DOID:0080348 Alzheimer's disease 1 semapv:UnspecifiedMatching MONDO:0007088 Alzheimer disease type 1 skos:exactMatch MEDGEN:354892 semapv:UnspecifiedMatching MONDO:0007088 Alzheimer disease type 1 skos:exactMatch OMIM:104300 alzheimer disease, familial, 1 semapv:UnspecifiedMatching MONDO:0007088 Alzheimer disease type 1 skos:exactMatch UMLS:C1863052 semapv:UnspecifiedMatching MONDO:0007088 Alzheimer disease type 1 skos:exactMatch mesh:C536594 semapv:UnspecifiedMatching MONDO:0007089 Alzheimer disease 2 skos:exactMatch DOID:0110035 Alzheimer's disease 2 semapv:UnspecifiedMatching MONDO:0007089 Alzheimer disease 2 skos:exactMatch MEDGEN:400197 semapv:UnspecifiedMatching MONDO:0007089 Alzheimer disease 2 skos:exactMatch OMIM:104310 alzheimer disease 2 semapv:UnspecifiedMatching MONDO:0007089 Alzheimer disease 2 skos:exactMatch UMLS:C1863051 semapv:UnspecifiedMatching MONDO:0007089 Alzheimer disease 2 skos:exactMatch mesh:C536595 semapv:UnspecifiedMatching MONDO:0007090 amastia, bilateral, with ureteral triplication and dysmorphism skos:exactMatch MEDGEN:354882 semapv:UnspecifiedMatching MONDO:0007090 amastia, bilateral, with ureteral triplication and dysmorphism skos:exactMatch OMIM:104350 amastia, bilateral, with ureteral triplication and dysmorphism semapv:UnspecifiedMatching MONDO:0007090 amastia, bilateral, with ureteral triplication and dysmorphism skos:exactMatch UMLS:C1863015 semapv:UnspecifiedMatching MONDO:0007090 amastia, bilateral, with ureteral triplication and dysmorphism skos:exactMatch mesh:C566295 semapv:UnspecifiedMatching MONDO:0007091 amelia and terminal transverse hemimelia skos:exactMatch MEDGEN:400186 semapv:UnspecifiedMatching MONDO:0007091 amelia and terminal transverse hemimelia skos:exactMatch OMIM:104400 amelia and terminal transverse hemimelia semapv:UnspecifiedMatching MONDO:0007091 amelia and terminal transverse hemimelia skos:exactMatch UMLS:C1863014 semapv:UnspecifiedMatching MONDO:0007091 amelia and terminal transverse hemimelia skos:exactMatch mesh:C566294 semapv:UnspecifiedMatching MONDO:0007092 amelogenesis imperfecta type 1B skos:exactMatch DOID:0110052 amelogenesis imperfecta type 1B semapv:UnspecifiedMatching MONDO:0007092 amelogenesis imperfecta type 1B skos:exactMatch MEDGEN:97993 semapv:UnspecifiedMatching MONDO:0007092 amelogenesis imperfecta type 1B skos:exactMatch OMIM:104500 amelogenesis imperfecta, type 1b semapv:UnspecifiedMatching MONDO:0007092 amelogenesis imperfecta type 1B skos:exactMatch SCTID:234961008 semapv:UnspecifiedMatching MONDO:0007092 amelogenesis imperfecta type 1B skos:exactMatch UMLS:C0399368 semapv:UnspecifiedMatching MONDO:0007092 amelogenesis imperfecta type 1B skos:exactMatch mesh:C562879 semapv:UnspecifiedMatching MONDO:0007093 hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism skos:exactMatch DOID:0110053 amelogenesis imperfecta type 4 semapv:UnspecifiedMatching MONDO:0007093 hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism skos:exactMatch MEDGEN:350816 semapv:UnspecifiedMatching MONDO:0007093 hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism skos:exactMatch OMIM:104510 amelogenesis imperfecta, type 4 semapv:UnspecifiedMatching MONDO:0007093 hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism skos:exactMatch Orphanet:100034 Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism semapv:UnspecifiedMatching MONDO:0007093 hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism skos:exactMatch UMLS:C1863012 semapv:UnspecifiedMatching MONDO:0007093 hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism skos:exactMatch mesh:C566293 semapv:UnspecifiedMatching MONDO:0007094 amelogenesis imperfecta type 1A skos:exactMatch DOID:0110054 amelogenesis imperfecta type 1A semapv:UnspecifiedMatching MONDO:0007094 amelogenesis imperfecta type 1A skos:exactMatch MEDGEN:859840 semapv:UnspecifiedMatching MONDO:0007094 amelogenesis imperfecta type 1A skos:exactMatch OMIM:104530 amelogenesis imperfecta, type 1a semapv:UnspecifiedMatching MONDO:0007094 amelogenesis imperfecta type 1A skos:exactMatch UMLS:C4011403 semapv:UnspecifiedMatching MONDO:0007094 amelogenesis imperfecta type 1A skos:exactMatch mesh:C538240 semapv:UnspecifiedMatching MONDO:0007095 ameloonychohypohidrotic syndrome skos:exactMatch MEDGEN:400184 semapv:UnspecifiedMatching MONDO:0007095 ameloonychohypohidrotic syndrome skos:exactMatch OMIM:104570 ameloonychohypohidrotic syndrome semapv:UnspecifiedMatching MONDO:0007095 ameloonychohypohidrotic syndrome skos:exactMatch Orphanet:1028 Amelo-onycho-hypohidrotic syndrome semapv:UnspecifiedMatching MONDO:0007095 ameloonychohypohidrotic syndrome skos:exactMatch SCTID:715404000 semapv:UnspecifiedMatching MONDO:0007095 ameloonychohypohidrotic syndrome skos:exactMatch UMLS:C1863006 semapv:UnspecifiedMatching MONDO:0007095 ameloonychohypohidrotic syndrome skos:exactMatch mesh:C538245 semapv:UnspecifiedMatching MONDO:0007096 amenorrhea-galactorrhea syndrome skos:exactMatch MEDGEN:78775 semapv:UnspecifiedMatching MONDO:0007096 amenorrhea-galactorrhea syndrome skos:exactMatch OMIM:104600 amenorrhea-galactorrhea syndrome semapv:UnspecifiedMatching MONDO:0007096 amenorrhea-galactorrhea syndrome skos:exactMatch SCTID:64678009 semapv:UnspecifiedMatching MONDO:0007096 amenorrhea-galactorrhea syndrome skos:exactMatch UMLS:C0271556 semapv:UnspecifiedMatching MONDO:0007096 amenorrhea-galactorrhea syndrome skos:exactMatch mesh:C537072 semapv:UnspecifiedMatching MONDO:0007097 Finnish type amyloidosis skos:exactMatch DOID:0050637 Finnish type amyloidosis semapv:UnspecifiedMatching MONDO:0007097 Finnish type amyloidosis skos:exactMatch MEDGEN:301243 semapv:UnspecifiedMatching MONDO:0007097 Finnish type amyloidosis skos:exactMatch OMIM:105120 amyloidosis, finnish type semapv:UnspecifiedMatching MONDO:0007097 Finnish type amyloidosis skos:exactMatch Orphanet:85448 AGel amyloidosis semapv:UnspecifiedMatching MONDO:0007097 Finnish type amyloidosis skos:exactMatch SCTID:419398009 semapv:UnspecifiedMatching MONDO:0007097 Finnish type amyloidosis skos:exactMatch UMLS:C1622345 semapv:UnspecifiedMatching MONDO:0007097 Finnish type amyloidosis skos:exactMatch mesh:C537459 semapv:UnspecifiedMatching MONDO:0007098 ACys amyloidosis skos:exactMatch DOID:0070027 CST3-related cerebral amyloid angiopathy semapv:UnspecifiedMatching MONDO:0007098 ACys amyloidosis skos:exactMatch MEDGEN:279656 semapv:UnspecifiedMatching MONDO:0007098 ACys amyloidosis skos:exactMatch OMIM:105150 cerebral amyloid angiopathy, cst3-related semapv:UnspecifiedMatching MONDO:0007098 ACys amyloidosis skos:exactMatch Orphanet:100008 ACys amyloidosis semapv:UnspecifiedMatching MONDO:0007098 ACys amyloidosis skos:exactMatch SCTID:703220002 semapv:UnspecifiedMatching MONDO:0007098 ACys amyloidosis skos:exactMatch UMLS:C1527338 semapv:UnspecifiedMatching MONDO:0007098 ACys amyloidosis skos:exactMatch icd11.foundation:1349991114 Hereditary cerebral haemorrhage with amyloidosis, Icelandic type semapv:UnspecifiedMatching MONDO:0007099 familial visceral amyloidosis skos:exactMatch DOID:0050636 hereditary systemic amyloidosis 2 semapv:UnspecifiedMatching MONDO:0007099 familial visceral amyloidosis skos:exactMatch MEDGEN:82799 semapv:UnspecifiedMatching MONDO:0007099 familial visceral amyloidosis skos:exactMatch OMIM:105200 amyloidosis, hereditary systemic 2 semapv:UnspecifiedMatching MONDO:0007099 familial visceral amyloidosis skos:exactMatch Orphanet:85450 Hereditary amyloidosis with primary renal involvement semapv:UnspecifiedMatching MONDO:0007099 familial visceral amyloidosis skos:exactMatch SCTID:66451004 semapv:UnspecifiedMatching MONDO:0007099 familial visceral amyloidosis skos:exactMatch UMLS:C0268389 semapv:UnspecifiedMatching MONDO:0007099 familial visceral amyloidosis skos:exactMatch mesh:C538249 semapv:UnspecifiedMatching MONDO:0007100 familial amyloid neuropathy skos:exactMatch DOID:0050638 hereditary systemic amyloidosis 1 semapv:UnspecifiedMatching MONDO:0007100 familial amyloid neuropathy skos:exactMatch EFO:0004129 semapv:UnspecifiedMatching MONDO:0007100 familial amyloid neuropathy skos:exactMatch MEDGEN:104815 semapv:UnspecifiedMatching MONDO:0007100 familial amyloid neuropathy skos:exactMatch NCIT:C84554 Familial Amyloid Neuropathy semapv:UnspecifiedMatching MONDO:0007100 familial amyloid neuropathy skos:exactMatch OMIMPS:105210 Amyloidosis, hereditary systemic semapv:UnspecifiedMatching MONDO:0007100 familial amyloid neuropathy skos:exactMatch Orphanet:271861 Hereditary ATTR amyloidosis semapv:UnspecifiedMatching MONDO:0007100 familial amyloid neuropathy skos:exactMatch SCTID:42295001 semapv:UnspecifiedMatching MONDO:0007100 familial amyloid neuropathy skos:exactMatch UMLS:C0206245 semapv:UnspecifiedMatching MONDO:0007100 familial amyloid neuropathy skos:exactMatch icd11.foundation:807065795 Hereditary ATTR amyloidosis semapv:UnspecifiedMatching MONDO:0007100 familial amyloid neuropathy skos:exactMatch mesh:C567782 semapv:UnspecifiedMatching MONDO:0007101 familial primary localized cutaneous amyloidosis skos:exactMatch MEDGEN:725603 semapv:UnspecifiedMatching MONDO:0007101 familial primary localized cutaneous amyloidosis skos:exactMatch OMIMPS:105250 Amyloidosis, primary localized cutaneous semapv:UnspecifiedMatching MONDO:0007101 familial primary localized cutaneous amyloidosis skos:exactMatch Orphanet:353220 Familial primary localized cutaneous amyloidosis semapv:UnspecifiedMatching MONDO:0007101 familial primary localized cutaneous amyloidosis skos:exactMatch UMLS:C1304242 semapv:UnspecifiedMatching MONDO:0007101 familial primary localized cutaneous amyloidosis skos:exactMatch mesh:C562643 semapv:UnspecifiedMatching MONDO:0007102 amyotrophic dystonic paraplegia skos:exactMatch MEDGEN:354871 semapv:UnspecifiedMatching MONDO:0007102 amyotrophic dystonic paraplegia skos:exactMatch OMIM:105300 amyotrophic dystonic paraplegia semapv:UnspecifiedMatching MONDO:0007102 amyotrophic dystonic paraplegia skos:exactMatch UMLS:C1862956 semapv:UnspecifiedMatching MONDO:0007102 amyotrophic dystonic paraplegia skos:exactMatch mesh:C566292 semapv:UnspecifiedMatching MONDO:0007103 amyotrophic lateral sclerosis type 1 skos:exactMatch DOID:0060193 amyotrophic lateral sclerosis type 1 semapv:UnspecifiedMatching MONDO:0007103 amyotrophic lateral sclerosis type 1 skos:exactMatch MEDGEN:400169 semapv:UnspecifiedMatching MONDO:0007103 amyotrophic lateral sclerosis type 1 skos:exactMatch OMIM:105400 amyotrophic lateral sclerosis 1 semapv:UnspecifiedMatching MONDO:0007103 amyotrophic lateral sclerosis type 1 skos:exactMatch UMLS:C1862939 semapv:UnspecifiedMatching MONDO:0007103 amyotrophic lateral sclerosis type 1 skos:exactMatch mesh:C531617 semapv:UnspecifiedMatching MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex skos:exactMatch DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 semapv:UnspecifiedMatching MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex skos:exactMatch MEDGEN:107775 semapv:UnspecifiedMatching MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex skos:exactMatch OMIM:105500 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 semapv:UnspecifiedMatching MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex skos:exactMatch Orphanet:90020 Parkinson-dementia complex of Guam semapv:UnspecifiedMatching MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex skos:exactMatch UMLS:C0543859 semapv:UnspecifiedMatching MONDO:0007105 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 skos:exactMatch DOID:0060213 C9orf72 frontotemporal dementia and/or amyotrophic lateral sclerosis semapv:UnspecifiedMatching MONDO:0007105 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 skos:exactMatch MEDGEN:1830423 semapv:UnspecifiedMatching MONDO:0007105 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 skos:exactMatch NCIT:C168756 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 semapv:UnspecifiedMatching MONDO:0007105 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 skos:exactMatch OMIM:105550 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 semapv:UnspecifiedMatching MONDO:0007105 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 skos:exactMatch UMLS:C5779877 semapv:UnspecifiedMatching MONDO:0007106 anal sphincter dysplasia skos:exactMatch MEDGEN:350794 semapv:UnspecifiedMatching MONDO:0007106 anal sphincter dysplasia skos:exactMatch OMIM:105563 anal sphincter dysplasia semapv:UnspecifiedMatching MONDO:0007106 anal sphincter dysplasia skos:exactMatch UMLS:C1862936 semapv:UnspecifiedMatching MONDO:0007106 anal sphincter dysplasia skos:exactMatch mesh:C538254 semapv:UnspecifiedMatching MONDO:0007107 anal sphincter myopathy, internal skos:exactMatch MEDGEN:349633 semapv:UnspecifiedMatching MONDO:0007107 anal sphincter myopathy, internal skos:exactMatch OMIM:105565 anal sphincter myopathy, internal semapv:UnspecifiedMatching MONDO:0007107 anal sphincter myopathy, internal skos:exactMatch UMLS:C1862935 semapv:UnspecifiedMatching MONDO:0007107 anal sphincter myopathy, internal skos:exactMatch mesh:C566287 semapv:UnspecifiedMatching MONDO:0007108 anal canal carcinoma skos:exactMatch DOID:6126 anal canal carcinoma semapv:UnspecifiedMatching MONDO:0007108 anal canal carcinoma skos:exactMatch MEDGEN:107559 semapv:UnspecifiedMatching MONDO:0007108 anal canal carcinoma skos:exactMatch NCIT:C7489 Anal Canal Carcinoma semapv:UnspecifiedMatching MONDO:0007108 anal canal carcinoma skos:exactMatch OMIM:105580 anal canal carcinoma semapv:UnspecifiedMatching MONDO:0007108 anal canal carcinoma skos:exactMatch Orphanet:424013 Carcinoma of the anal canal semapv:UnspecifiedMatching MONDO:0007108 anal canal carcinoma skos:exactMatch SCTID:285310000 semapv:UnspecifiedMatching MONDO:0007108 anal canal carcinoma skos:exactMatch UMLS:C0563211 semapv:UnspecifiedMatching MONDO:0007109 congenital dyserythropoietic anemia type 3 skos:exactMatch DOID:0111399 congenital dyserythropoietic anemia type IIIa semapv:UnspecifiedMatching MONDO:0007109 congenital dyserythropoietic anemia type 3 skos:exactMatch MEDGEN:1801596 semapv:UnspecifiedMatching MONDO:0007109 congenital dyserythropoietic anemia type 3 skos:exactMatch OMIM:105600 anemia, congenital dyserythropoietic, type iiia semapv:UnspecifiedMatching MONDO:0007109 congenital dyserythropoietic anemia type 3 skos:exactMatch Orphanet:98870 Congenital dyserythropoietic anemia type III semapv:UnspecifiedMatching MONDO:0007109 congenital dyserythropoietic anemia type 3 skos:exactMatch SCTID:26409005 semapv:UnspecifiedMatching MONDO:0007109 congenital dyserythropoietic anemia type 3 skos:exactMatch UMLS:C5676874 semapv:UnspecifiedMatching MONDO:0007110 Diamond-Blackfan anemia 1 skos:exactMatch DOID:0111895 Diamond-Blackfan anemia 1 semapv:UnspecifiedMatching MONDO:0007110 Diamond-Blackfan anemia 1 skos:exactMatch MEDGEN:390966 semapv:UnspecifiedMatching MONDO:0007110 Diamond-Blackfan anemia 1 skos:exactMatch NCIT:C176911 Diamond-Blackfan Anemia 1 semapv:UnspecifiedMatching MONDO:0007110 Diamond-Blackfan anemia 1 skos:exactMatch OMIM:105650 diamond-blackfan anemia 1 semapv:UnspecifiedMatching MONDO:0007110 Diamond-Blackfan anemia 1 skos:exactMatch UMLS:C2676137 semapv:UnspecifiedMatching MONDO:0007110 Diamond-Blackfan anemia 1 skos:exactMatch mesh:C567302 semapv:UnspecifiedMatching MONDO:0007111 aneurysm, intracranial berry type 1 skos:exactMatch DOID:0080964 intracranial berry aneurysm 1 semapv:UnspecifiedMatching MONDO:0007111 aneurysm, intracranial berry type 1 skos:exactMatch MEDGEN:354864 semapv:UnspecifiedMatching MONDO:0007111 aneurysm, intracranial berry type 1 skos:exactMatch OMIM:105800 aneurysm, intracranial berry, 1 semapv:UnspecifiedMatching MONDO:0007111 aneurysm, intracranial berry type 1 skos:exactMatch UMLS:C1862932 semapv:UnspecifiedMatching MONDO:0007111 aneurysm, intracranial berry type 1 skos:exactMatch mesh:C566284 semapv:UnspecifiedMatching MONDO:0007112 interventricular septum aneurysm skos:exactMatch MEDGEN:234648 semapv:UnspecifiedMatching MONDO:0007112 interventricular septum aneurysm skos:exactMatch OMIM:105805 aneurysm of interventricular septum semapv:UnspecifiedMatching MONDO:0007112 interventricular septum aneurysm skos:exactMatch Orphanet:99092 Interventricular septum aneurysm semapv:UnspecifiedMatching MONDO:0007112 interventricular septum aneurysm skos:exactMatch UMLS:C1387721 semapv:UnspecifiedMatching MONDO:0007112 interventricular septum aneurysm skos:exactMatch mesh:C563239 semapv:UnspecifiedMatching MONDO:0007113 Angelman syndrome skos:exactMatch DOID:1932 Angelman syndrome semapv:UnspecifiedMatching MONDO:0007113 Angelman syndrome skos:exactMatch ICD10CM:Q93.51 Angelman syndrome semapv:UnspecifiedMatching MONDO:0007113 Angelman syndrome skos:exactMatch MEDGEN:58144 semapv:UnspecifiedMatching MONDO:0007113 Angelman syndrome skos:exactMatch NCIT:C75462 Angelman Syndrome semapv:UnspecifiedMatching MONDO:0007113 Angelman syndrome skos:exactMatch OMIM:105830 angelman syndrome semapv:UnspecifiedMatching MONDO:0007113 Angelman syndrome skos:exactMatch Orphanet:72 Angelman syndrome semapv:UnspecifiedMatching MONDO:0007113 Angelman syndrome skos:exactMatch SCTID:76880004 semapv:UnspecifiedMatching MONDO:0007113 Angelman syndrome skos:exactMatch UMLS:C0162635 semapv:UnspecifiedMatching MONDO:0007113 Angelman syndrome skos:exactMatch icd11.foundation:1106558408 Angelman syndrome semapv:UnspecifiedMatching MONDO:0007113 Angelman syndrome skos:exactMatch mesh:C531619 semapv:UnspecifiedMatching MONDO:0007113 Angelman syndrome skos:exactMatch mesh:D017204 semapv:UnspecifiedMatching MONDO:0007114 Angel-shaped phalango-epiphyseal dysplasia skos:exactMatch MEDGEN:366028 semapv:UnspecifiedMatching MONDO:0007114 Angel-shaped phalango-epiphyseal dysplasia skos:exactMatch OMIM:105835 angel-shaped phalangoepiphyseal dysplasia semapv:UnspecifiedMatching MONDO:0007114 Angel-shaped phalango-epiphyseal dysplasia skos:exactMatch Orphanet:63442 Angel-shaped phalango-epiphyseal dysplasia semapv:UnspecifiedMatching MONDO:0007114 Angel-shaped phalango-epiphyseal dysplasia skos:exactMatch SCTID:720984008 semapv:UnspecifiedMatching MONDO:0007114 Angel-shaped phalango-epiphyseal dysplasia skos:exactMatch UMLS:C1739384 semapv:UnspecifiedMatching MONDO:0007114 Angel-shaped phalango-epiphyseal dysplasia skos:exactMatch icd11.foundation:1095628863 Angel-shaped phalango-epiphyseal dysplasia semapv:UnspecifiedMatching MONDO:0007114 Angel-shaped phalango-epiphyseal dysplasia skos:exactMatch mesh:C536361 semapv:UnspecifiedMatching MONDO:0007115 angioma serpiginosum, autosomal dominant skos:exactMatch MEDGEN:370186 semapv:UnspecifiedMatching MONDO:0007115 angioma serpiginosum, autosomal dominant skos:exactMatch OMIM:106050 angioma serpiginosum, autosomal dominant semapv:UnspecifiedMatching MONDO:0007115 angioma serpiginosum, autosomal dominant skos:exactMatch UMLS:C1970130 semapv:UnspecifiedMatching MONDO:0007115 angioma serpiginosum, autosomal dominant skos:exactMatch mesh:C536365 semapv:UnspecifiedMatching MONDO:0007116 hereditary neurocutaneous angioma skos:exactMatch MEDGEN:226898 semapv:UnspecifiedMatching MONDO:0007116 hereditary neurocutaneous angioma skos:exactMatch OMIM:106070 angioma, hereditary neurocutaneous semapv:UnspecifiedMatching MONDO:0007116 hereditary neurocutaneous angioma skos:exactMatch Orphanet:1062 Hereditary neurocutaneous malformation semapv:UnspecifiedMatching MONDO:0007116 hereditary neurocutaneous angioma skos:exactMatch UMLS:C1275084 semapv:UnspecifiedMatching MONDO:0007116 hereditary neurocutaneous angioma skos:exactMatch icd11.foundation:182579434 Hereditary neurocutaneous angioma semapv:UnspecifiedMatching MONDO:0007118 isolated anhidrosis with normal sweat glands skos:exactMatch DOID:0060603 isolated anhidrosis with normal sweat glands semapv:UnspecifiedMatching MONDO:0007118 isolated anhidrosis with normal sweat glands skos:exactMatch MEDGEN:1800259 semapv:UnspecifiedMatching MONDO:0007118 isolated anhidrosis with normal sweat glands skos:exactMatch OMIM:106190 anhidrosis, isolated, with normal sweat glands semapv:UnspecifiedMatching MONDO:0007118 isolated anhidrosis with normal sweat glands skos:exactMatch Orphanet:468666 Isolated generalized anhidrosis with normal sweat glands semapv:UnspecifiedMatching MONDO:0007118 isolated anhidrosis with normal sweat glands skos:exactMatch UMLS:C5568836 semapv:UnspecifiedMatching MONDO:0007119 isolated aniridia skos:exactMatch OMIMPS:106210 Aniridia semapv:UnspecifiedMatching MONDO:0007119 isolated aniridia skos:exactMatch Orphanet:250923 Isolated aniridia semapv:UnspecifiedMatching MONDO:0007120 aniridia-absent patella syndrome skos:exactMatch MEDGEN:400149 semapv:UnspecifiedMatching MONDO:0007120 aniridia-absent patella syndrome skos:exactMatch OMIM:106220 aniridia and absent patella semapv:UnspecifiedMatching MONDO:0007120 aniridia-absent patella syndrome skos:exactMatch Orphanet:1069 Aniridia-absent patella syndrome semapv:UnspecifiedMatching MONDO:0007120 aniridia-absent patella syndrome skos:exactMatch UMLS:C1862868 semapv:UnspecifiedMatching MONDO:0007120 aniridia-absent patella syndrome skos:exactMatch mesh:C566281 semapv:UnspecifiedMatching MONDO:0007121 aniridia, microcornea, and spontaneously Reabsorbed cataract skos:exactMatch MEDGEN:350777 semapv:UnspecifiedMatching MONDO:0007121 aniridia, microcornea, and spontaneously Reabsorbed cataract skos:exactMatch OMIM:106230 aniridia, microcornea, and spontaneously reabsorbed cataract semapv:UnspecifiedMatching MONDO:0007121 aniridia, microcornea, and spontaneously Reabsorbed cataract skos:exactMatch UMLS:C1862867 semapv:UnspecifiedMatching MONDO:0007121 aniridia, microcornea, and spontaneously Reabsorbed cataract skos:exactMatch mesh:C566280 semapv:UnspecifiedMatching MONDO:0007122 anisocoria skos:exactMatch ICD10CM:H57.02 Anisocoria semapv:UnspecifiedMatching MONDO:0007122 anisocoria skos:exactMatch MEDGEN:1944 semapv:UnspecifiedMatching MONDO:0007122 anisocoria skos:exactMatch OMIM:106240 anisocoria semapv:UnspecifiedMatching MONDO:0007122 anisocoria skos:exactMatch SCTID:13045009 semapv:UnspecifiedMatching MONDO:0007122 anisocoria skos:exactMatch UMLS:C0003079 semapv:UnspecifiedMatching MONDO:0007122 anisocoria skos:exactMatch mesh:D015875 semapv:UnspecifiedMatching MONDO:0007123 ankyloblepharon filiforme adnatum-cleft palate syndrome skos:exactMatch MEDGEN:400148 semapv:UnspecifiedMatching MONDO:0007123 ankyloblepharon filiforme adnatum-cleft palate syndrome skos:exactMatch OMIM:106250 ankyloblepharon filiforme adnatum and cleft palate semapv:UnspecifiedMatching MONDO:0007123 ankyloblepharon filiforme adnatum-cleft palate syndrome skos:exactMatch Orphanet:1072 Ankyloblepharon filiforme adnatum-cleft palate syndrome semapv:UnspecifiedMatching MONDO:0007123 ankyloblepharon filiforme adnatum-cleft palate syndrome skos:exactMatch SCTID:400952003 semapv:UnspecifiedMatching MONDO:0007123 ankyloblepharon filiforme adnatum-cleft palate syndrome skos:exactMatch UMLS:C1862866 semapv:UnspecifiedMatching MONDO:0007123 ankyloblepharon filiforme adnatum-cleft palate syndrome skos:exactMatch mesh:C536373 semapv:UnspecifiedMatching MONDO:0007124 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome skos:exactMatch DOID:0090119 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome semapv:UnspecifiedMatching MONDO:0007124 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome skos:exactMatch MEDGEN:98032 semapv:UnspecifiedMatching MONDO:0007124 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome skos:exactMatch OMIM:106260 ankyloblepharon-ectodermal defects-cleft lip/palate semapv:UnspecifiedMatching MONDO:0007124 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome skos:exactMatch Orphanet:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome semapv:UnspecifiedMatching MONDO:0007124 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome skos:exactMatch SCTID:55821006 semapv:UnspecifiedMatching MONDO:0007124 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome skos:exactMatch UMLS:C0406709 semapv:UnspecifiedMatching MONDO:0007124 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome skos:exactMatch mesh:C535847 semapv:UnspecifiedMatching MONDO:0007125 ankyloglossia skos:exactMatch DOID:0060604 ankyloglossia semapv:UnspecifiedMatching MONDO:0007125 ankyloglossia skos:exactMatch ICD10CM:Q38.1 Ankyloglossia semapv:UnspecifiedMatching MONDO:0007125 ankyloglossia skos:exactMatch MEDGEN:1673143 semapv:UnspecifiedMatching MONDO:0007125 ankyloglossia skos:exactMatch NCIT:C124538 Ankyloglossia semapv:UnspecifiedMatching MONDO:0007125 ankyloglossia skos:exactMatch OMIM:106280 ankyloglossia with or without tooth anomalies semapv:UnspecifiedMatching MONDO:0007125 ankyloglossia skos:exactMatch SCTID:67787004 semapv:UnspecifiedMatching MONDO:0007125 ankyloglossia skos:exactMatch UMLS:C4759698 semapv:UnspecifiedMatching MONDO:0007125 ankyloglossia skos:exactMatch icd11.foundation:1838543063 Ankyloglossia semapv:UnspecifiedMatching MONDO:0007125 ankyloglossia skos:exactMatch mesh:C562396 semapv:UnspecifiedMatching MONDO:0007125 ankyloglossia skos:exactMatch mesh:D000072676 semapv:UnspecifiedMatching MONDO:0007126 spondyloarthropathy, susceptibility to, 1 skos:exactMatch DOID:0080603 ankylosing spondylitis 1 semapv:UnspecifiedMatching MONDO:0007126 spondyloarthropathy, susceptibility to, 1 skos:exactMatch MEDGEN:400145 semapv:UnspecifiedMatching MONDO:0007126 spondyloarthropathy, susceptibility to, 1 skos:exactMatch OMIM:106300 spondyloarthropathy, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0007126 spondyloarthropathy, susceptibility to, 1 skos:exactMatch UMLS:C1862852 semapv:UnspecifiedMatching MONDO:0007127 diffuse idiopathic skeletal hyperostosis skos:exactMatch DOID:6652 diffuse idiopathic skeletal hyperostosis semapv:UnspecifiedMatching MONDO:0007127 diffuse idiopathic skeletal hyperostosis skos:exactMatch EFO:0007236 semapv:UnspecifiedMatching MONDO:0007127 diffuse idiopathic skeletal hyperostosis skos:exactMatch ICD10CM:M48.1 Ankylosing hyperostosis [Forestier] semapv:UnspecifiedMatching MONDO:0007127 diffuse idiopathic skeletal hyperostosis skos:exactMatch MEDGEN:5695 semapv:UnspecifiedMatching MONDO:0007127 diffuse idiopathic skeletal hyperostosis skos:exactMatch NCIT:C84671 Diffuse Idiopathic Skeletal Hyperostosis semapv:UnspecifiedMatching MONDO:0007127 diffuse idiopathic skeletal hyperostosis skos:exactMatch Orphanet:2206 Ankylosing vertebral hyperostosis with tylosis semapv:UnspecifiedMatching MONDO:0007127 diffuse idiopathic skeletal hyperostosis skos:exactMatch SCTID:31487001 semapv:UnspecifiedMatching MONDO:0007127 diffuse idiopathic skeletal hyperostosis skos:exactMatch UMLS:C0020498 semapv:UnspecifiedMatching MONDO:0007127 diffuse idiopathic skeletal hyperostosis skos:exactMatch mesh:D004057 semapv:UnspecifiedMatching MONDO:0007128 annular erythema skos:exactMatch MEDGEN:68608 semapv:UnspecifiedMatching MONDO:0007128 annular erythema skos:exactMatch OMIM:106500 annular erythema semapv:UnspecifiedMatching MONDO:0007128 annular erythema skos:exactMatch SCTID:200920000 semapv:UnspecifiedMatching MONDO:0007128 annular erythema skos:exactMatch UMLS:C0234906 semapv:UnspecifiedMatching MONDO:0007128 annular erythema skos:exactMatch icd11.foundation:958930318 Annular erythema semapv:UnspecifiedMatching MONDO:0007128 annular erythema skos:exactMatch mesh:C562461 semapv:UnspecifiedMatching MONDO:0007129 tooth agenesis, selective, 1 skos:exactMatch MEDGEN:483482 semapv:UnspecifiedMatching MONDO:0007129 tooth agenesis, selective, 1 skos:exactMatch OMIM:106600 tooth agenesis, selective, 1 semapv:UnspecifiedMatching MONDO:0007129 tooth agenesis, selective, 1 skos:exactMatch UMLS:C3489529 semapv:UnspecifiedMatching MONDO:0007130 congenital total pulmonary venous return anomaly skos:exactMatch DOID:4297 scimitar syndrome semapv:UnspecifiedMatching MONDO:0007130 congenital total pulmonary venous return anomaly skos:exactMatch MEDGEN:1648157 semapv:UnspecifiedMatching MONDO:0007130 congenital total pulmonary venous return anomaly skos:exactMatch NCIT:C98585 Total Anomalous Pulmonary Venous Return semapv:UnspecifiedMatching MONDO:0007130 congenital total pulmonary venous return anomaly skos:exactMatch OMIM:106700 total anomalous pulmonary venous return 1 semapv:UnspecifiedMatching MONDO:0007130 congenital total pulmonary venous return anomaly skos:exactMatch Orphanet:99125 Congenital total pulmonary venous return anomaly semapv:UnspecifiedMatching MONDO:0007130 congenital total pulmonary venous return anomaly skos:exactMatch SCTID:111323005 semapv:UnspecifiedMatching MONDO:0007130 congenital total pulmonary venous return anomaly skos:exactMatch UMLS:C4551903 semapv:UnspecifiedMatching MONDO:0007130 congenital total pulmonary venous return anomaly skos:exactMatch icd11.foundation:1532925990 Total anomalous pulmonary venous connection semapv:UnspecifiedMatching MONDO:0007131 anonychia with flexural pigmentation skos:exactMatch MEDGEN:400144 semapv:UnspecifiedMatching MONDO:0007131 anonychia with flexural pigmentation skos:exactMatch OMIM:106750 anonychia with flexural pigmentation semapv:UnspecifiedMatching MONDO:0007131 anonychia with flexural pigmentation skos:exactMatch Orphanet:69125 Anonychia with flexural pigmentation semapv:UnspecifiedMatching MONDO:0007131 anonychia with flexural pigmentation skos:exactMatch UMLS:C1862844 semapv:UnspecifiedMatching MONDO:0007131 anonychia with flexural pigmentation skos:exactMatch mesh:C566278 semapv:UnspecifiedMatching MONDO:0007132 anonychia-ectrodactyly skos:exactMatch MEDGEN:354849 semapv:UnspecifiedMatching MONDO:0007132 anonychia-ectrodactyly skos:exactMatch OMIM:106900 anonychia-ectrodactyly semapv:UnspecifiedMatching MONDO:0007132 anonychia-ectrodactyly skos:exactMatch UMLS:C1862843 semapv:UnspecifiedMatching MONDO:0007132 anonychia-ectrodactyly skos:exactMatch mesh:C566277 semapv:UnspecifiedMatching MONDO:0007133 anonychia-onychodystrophy with brachydactyly type b and ectrodactyly skos:exactMatch MEDGEN:400143 semapv:UnspecifiedMatching MONDO:0007133 anonychia-onychodystrophy with brachydactyly type b and ectrodactyly skos:exactMatch OMIM:106990 anonychia-onychodystrophy with brachydactyly type B and ectrodactyly semapv:UnspecifiedMatching MONDO:0007133 anonychia-onychodystrophy with brachydactyly type b and ectrodactyly skos:exactMatch UMLS:C1862842 semapv:UnspecifiedMatching MONDO:0007133 anonychia-onychodystrophy with brachydactyly type b and ectrodactyly skos:exactMatch mesh:C536379 semapv:UnspecifiedMatching MONDO:0007134 Cooks syndrome skos:exactMatch MEDGEN:354848 semapv:UnspecifiedMatching MONDO:0007134 Cooks syndrome skos:exactMatch OMIM:106995 anonychia-onychodystrophy with hypoplasia or absence of distal phalanges semapv:UnspecifiedMatching MONDO:0007134 Cooks syndrome skos:exactMatch Orphanet:1487 Cooks syndrome semapv:UnspecifiedMatching MONDO:0007134 Cooks syndrome skos:exactMatch SCTID:720747002 semapv:UnspecifiedMatching MONDO:0007134 Cooks syndrome skos:exactMatch UMLS:C1862841 semapv:UnspecifiedMatching MONDO:0007134 Cooks syndrome skos:exactMatch mesh:C537766 semapv:UnspecifiedMatching MONDO:0007135 nonsyndromic congenital nail disorder 6 skos:exactMatch DOID:0080084 nonsyndromic congenital nail disorder 6 semapv:UnspecifiedMatching MONDO:0007135 nonsyndromic congenital nail disorder 6 skos:exactMatch MEDGEN:477175 semapv:UnspecifiedMatching MONDO:0007135 nonsyndromic congenital nail disorder 6 skos:exactMatch OMIM:107000 nail disorder, nonsyndromic congenital, 6 semapv:UnspecifiedMatching MONDO:0007135 nonsyndromic congenital nail disorder 6 skos:exactMatch UMLS:C3275544 semapv:UnspecifiedMatching MONDO:0007136 hereditary anorectal anomalies skos:exactMatch MEDGEN:501217 semapv:UnspecifiedMatching MONDO:0007136 hereditary anorectal anomalies skos:exactMatch OMIM:107100 anorectal anomalies semapv:UnspecifiedMatching MONDO:0007136 hereditary anorectal anomalies skos:exactMatch UMLS:C3495676 semapv:UnspecifiedMatching MONDO:0007137 isolated congenital anosmia skos:exactMatch MEDGEN:95992 semapv:UnspecifiedMatching MONDO:0007137 isolated congenital anosmia skos:exactMatch OMIM:107200 anosmia, isolated congenital semapv:UnspecifiedMatching MONDO:0007137 isolated congenital anosmia skos:exactMatch Orphanet:88620 Isolated congenital anosmia semapv:UnspecifiedMatching MONDO:0007137 isolated congenital anosmia skos:exactMatch SCTID:230502003 semapv:UnspecifiedMatching MONDO:0007137 isolated congenital anosmia skos:exactMatch UMLS:C0393778 semapv:UnspecifiedMatching MONDO:0007137 isolated congenital anosmia skos:exactMatch icd11.foundation:1603572540 Isolated congenital anosmia semapv:UnspecifiedMatching MONDO:0007137 isolated congenital anosmia skos:exactMatch mesh:C535983 semapv:UnspecifiedMatching MONDO:0007138 anterior segment dysgenesis 1 skos:exactMatch DOID:0080606 anterior segment dysgenesis 1 semapv:UnspecifiedMatching MONDO:0007138 anterior segment dysgenesis 1 skos:exactMatch MEDGEN:1631197 semapv:UnspecifiedMatching MONDO:0007138 anterior segment dysgenesis 1 skos:exactMatch OMIM:107250 anterior segment dysgenesis 1 semapv:UnspecifiedMatching MONDO:0007138 anterior segment dysgenesis 1 skos:exactMatch UMLS:C4551992 semapv:UnspecifiedMatching MONDO:0007139 obsolete Antipyrine metabolism skos:exactMatch OMIM:107290 antipyrine metabolism semapv:UnspecifiedMatching MONDO:0007141 obsolete antiviral state repressor, regulator of skos:exactMatch OMIM:107440 antiviral state repressor, regulator of semapv:UnspecifiedMatching MONDO:0007142 Townes-Brocks syndrome skos:exactMatch DOID:0050887 Townes-Brocks syndrome semapv:UnspecifiedMatching MONDO:0007142 Townes-Brocks syndrome skos:exactMatch MEDGEN:75555 semapv:UnspecifiedMatching MONDO:0007142 Townes-Brocks syndrome skos:exactMatch NCIT:C99085 Townes-Brocks Syndrome semapv:UnspecifiedMatching MONDO:0007142 Townes-Brocks syndrome skos:exactMatch OMIMPS:107480 Townes-Brocks syndrome semapv:UnspecifiedMatching MONDO:0007142 Townes-Brocks syndrome skos:exactMatch Orphanet:857 Townes-Brocks syndrome semapv:UnspecifiedMatching MONDO:0007142 Townes-Brocks syndrome skos:exactMatch SCTID:24750000 semapv:UnspecifiedMatching MONDO:0007142 Townes-Brocks syndrome skos:exactMatch UMLS:C0265246 semapv:UnspecifiedMatching MONDO:0007142 Townes-Brocks syndrome skos:exactMatch icd11.foundation:66554749 Townes-Brocks syndrome semapv:UnspecifiedMatching MONDO:0007142 Townes-Brocks syndrome skos:exactMatch mesh:C536974 semapv:UnspecifiedMatching MONDO:0007143 aortic arch anomaly-facial dysmorphism-intellectual disability syndrome skos:exactMatch MEDGEN:350734 semapv:UnspecifiedMatching MONDO:0007143 aortic arch anomaly-facial dysmorphism-intellectual disability syndrome skos:exactMatch OMIM:107500 aortic arch anomaly with peculiar facies and impaired intellectual development semapv:UnspecifiedMatching MONDO:0007143 aortic arch anomaly-facial dysmorphism-intellectual disability syndrome skos:exactMatch Orphanet:1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0007143 aortic arch anomaly-facial dysmorphism-intellectual disability syndrome skos:exactMatch UMLS:C1862682 semapv:UnspecifiedMatching MONDO:0007143 aortic arch anomaly-facial dysmorphism-intellectual disability syndrome skos:exactMatch mesh:C537785 semapv:UnspecifiedMatching MONDO:0007144 aortic arch interruption, facial palsy, and retinal coloboma skos:exactMatch MEDGEN:350733 semapv:UnspecifiedMatching MONDO:0007144 aortic arch interruption, facial palsy, and retinal coloboma skos:exactMatch OMIM:107550 aortic arch interruption, facial palsy, and retinal coloboma semapv:UnspecifiedMatching MONDO:0007144 aortic arch interruption, facial palsy, and retinal coloboma skos:exactMatch UMLS:C1862681 semapv:UnspecifiedMatching MONDO:0007144 aortic arch interruption, facial palsy, and retinal coloboma skos:exactMatch mesh:C566271 semapv:UnspecifiedMatching MONDO:0007145 aplasia cutis congenita skos:exactMatch DOID:0080661 nonsyndromic aplasia cutis congenita semapv:UnspecifiedMatching MONDO:0007145 aplasia cutis congenita skos:exactMatch MEDGEN:79390 semapv:UnspecifiedMatching MONDO:0007145 aplasia cutis congenita skos:exactMatch NCIT:C98822 Aplasia Cutis Congenita semapv:UnspecifiedMatching MONDO:0007145 aplasia cutis congenita skos:exactMatch OMIM:107600 aplasia cutis congenita, nonsyndromic semapv:UnspecifiedMatching MONDO:0007145 aplasia cutis congenita skos:exactMatch Orphanet:1114 Aplasia cutis congenita semapv:UnspecifiedMatching MONDO:0007145 aplasia cutis congenita skos:exactMatch SCTID:35484002 semapv:UnspecifiedMatching MONDO:0007145 aplasia cutis congenita skos:exactMatch UMLS:C0282160 semapv:UnspecifiedMatching MONDO:0007145 aplasia cutis congenita skos:exactMatch icd11.foundation:350175828 Aplasia cutis congenita semapv:UnspecifiedMatching MONDO:0007147 obstructive sleep apnea syndrome skos:exactMatch DOID:0050848 obstructive sleep apnea semapv:UnspecifiedMatching MONDO:0007147 obstructive sleep apnea syndrome skos:exactMatch EFO:0003918 semapv:UnspecifiedMatching MONDO:0007147 obstructive sleep apnea syndrome skos:exactMatch ICD10CM:G47.33 Obstructive sleep apnea (adult) (pediatric) semapv:UnspecifiedMatching MONDO:0007147 obstructive sleep apnea syndrome skos:exactMatch MEDGEN:101045 semapv:UnspecifiedMatching MONDO:0007147 obstructive sleep apnea syndrome skos:exactMatch NCIT:C27168 Obstructive Sleep Apnea Syndrome semapv:UnspecifiedMatching MONDO:0007147 obstructive sleep apnea syndrome skos:exactMatch OMIM:107650 apnea, obstructive sleep semapv:UnspecifiedMatching MONDO:0007147 obstructive sleep apnea syndrome skos:exactMatch SCTID:78275009 semapv:UnspecifiedMatching MONDO:0007147 obstructive sleep apnea syndrome skos:exactMatch UMLS:C0520679 semapv:UnspecifiedMatching MONDO:0007147 obstructive sleep apnea syndrome skos:exactMatch mesh:D020181 semapv:UnspecifiedMatching MONDO:0007148 appendicitis, proneness to skos:exactMatch MEDGEN:400099 semapv:UnspecifiedMatching MONDO:0007148 appendicitis, proneness to skos:exactMatch OMIM:107700 appendicitis, proneness to semapv:UnspecifiedMatching MONDO:0007148 appendicitis, proneness to skos:exactMatch UMLS:C1862632 semapv:UnspecifiedMatching MONDO:0007149 obsolete arbitrary restriction polymorphism 1 skos:exactMatch OMIM:107750 arbitrary restriction polymorphism 1 semapv:UnspecifiedMatching MONDO:0007150 arcus senilis skos:exactMatch DOID:11342 arcus senilis semapv:UnspecifiedMatching MONDO:0007150 arcus senilis skos:exactMatch EFO:1000818 semapv:UnspecifiedMatching MONDO:0007150 arcus senilis skos:exactMatch ICD10CM:H18.41 Arcus senilis semapv:UnspecifiedMatching MONDO:0007150 arcus senilis skos:exactMatch MEDGEN:8179 semapv:UnspecifiedMatching MONDO:0007150 arcus senilis skos:exactMatch OMIM:107800 arcus corneae semapv:UnspecifiedMatching MONDO:0007150 arcus senilis skos:exactMatch SCTID:231924000 semapv:UnspecifiedMatching MONDO:0007150 arcus senilis skos:exactMatch UMLS:C0003742 semapv:UnspecifiedMatching MONDO:0007150 arcus senilis skos:exactMatch icd11.foundation:2142011301 Arcus senilis semapv:UnspecifiedMatching MONDO:0007150 arcus senilis skos:exactMatch mesh:D001112 semapv:UnspecifiedMatching MONDO:0007151 arms, malformation of skos:exactMatch MEDGEN:350694 semapv:UnspecifiedMatching MONDO:0007151 arms, malformation of skos:exactMatch OMIM:107900 arms, malformation of semapv:UnspecifiedMatching MONDO:0007151 arms, malformation of skos:exactMatch UMLS:C1862534 semapv:UnspecifiedMatching MONDO:0007151 arms, malformation of skos:exactMatch mesh:C566258 semapv:UnspecifiedMatching MONDO:0007152 arrhythmogenic right ventricular dysplasia 1 skos:exactMatch DOID:0110070 arrhythmogenic right ventricular dysplasia 1 semapv:UnspecifiedMatching MONDO:0007152 arrhythmogenic right ventricular dysplasia 1 skos:exactMatch MEDGEN:349530 semapv:UnspecifiedMatching MONDO:0007152 arrhythmogenic right ventricular dysplasia 1 skos:exactMatch OMIM:107970 arrhythmogenic right ventricular dysplasia, familial, 1 semapv:UnspecifiedMatching MONDO:0007152 arrhythmogenic right ventricular dysplasia 1 skos:exactMatch UMLS:C1862511 semapv:UnspecifiedMatching MONDO:0007153 arteries, anomalies of skos:exactMatch MEDGEN:360295 semapv:UnspecifiedMatching MONDO:0007153 arteries, anomalies of skos:exactMatch OMIM:108000 arteries, anomalies of semapv:UnspecifiedMatching MONDO:0007153 arteries, anomalies of skos:exactMatch UMLS:C1876179 semapv:UnspecifiedMatching MONDO:0007154 arteriovenous malformations of the brain skos:exactMatch DOID:0060688 arteriovenous malformations of the brain semapv:UnspecifiedMatching MONDO:0007154 arteriovenous malformations of the brain skos:exactMatch MEDGEN:214590 semapv:UnspecifiedMatching MONDO:0007154 arteriovenous malformations of the brain skos:exactMatch NCIT:C2936 Cerebral Arteriovenous Malformation semapv:UnspecifiedMatching MONDO:0007154 arteriovenous malformations of the brain skos:exactMatch OMIM:108010 arteriovenous malformations of the brain semapv:UnspecifiedMatching MONDO:0007154 arteriovenous malformations of the brain skos:exactMatch Orphanet:46724 Cerebral arteriovenous malformation semapv:UnspecifiedMatching MONDO:0007154 arteriovenous malformations of the brain skos:exactMatch SCTID:234142008 semapv:UnspecifiedMatching MONDO:0007154 arteriovenous malformations of the brain skos:exactMatch UMLS:C0917804 semapv:UnspecifiedMatching MONDO:0007154 arteriovenous malformations of the brain skos:exactMatch icd11.foundation:153256729 Arteriovenous malformation of cerebral vessels semapv:UnspecifiedMatching MONDO:0007154 arteriovenous malformations of the brain skos:exactMatch mesh:D002538 semapv:UnspecifiedMatching MONDO:0007155 arteritis, familial granulomatous, with juvenile polyarthritis skos:exactMatch MEDGEN:349529 semapv:UnspecifiedMatching MONDO:0007155 arteritis, familial granulomatous, with juvenile polyarthritis skos:exactMatch OMIM:108050 arteritis, familial granulomatous, with juvenile polyarthritis semapv:UnspecifiedMatching MONDO:0007155 arteritis, familial granulomatous, with juvenile polyarthritis skos:exactMatch UMLS:C1862510 semapv:UnspecifiedMatching MONDO:0007155 arteritis, familial granulomatous, with juvenile polyarthritis skos:exactMatch mesh:C566253 semapv:UnspecifiedMatching MONDO:0007156 arthritis, sacroiliac skos:exactMatch MEDGEN:148186 semapv:UnspecifiedMatching MONDO:0007156 arthritis, sacroiliac skos:exactMatch OMIM:108100 arthritis, sacroiliac semapv:UnspecifiedMatching MONDO:0007156 arthritis, sacroiliac skos:exactMatch UMLS:C0748473 semapv:UnspecifiedMatching MONDO:0007156 arthritis, sacroiliac skos:exactMatch mesh:C563037 semapv:UnspecifiedMatching MONDO:0007157 arthrogryposis, distal, type 1A skos:exactMatch DOID:0111597 distal arthrogryposis type 1A semapv:UnspecifiedMatching MONDO:0007157 arthrogryposis, distal, type 1A skos:exactMatch MEDGEN:113099 semapv:UnspecifiedMatching MONDO:0007157 arthrogryposis, distal, type 1A skos:exactMatch OMIM:108120 arthrogryposis, distal, type 1a semapv:UnspecifiedMatching MONDO:0007157 arthrogryposis, distal, type 1A skos:exactMatch SCTID:715314008 semapv:UnspecifiedMatching MONDO:0007157 arthrogryposis, distal, type 1A skos:exactMatch UMLS:C0220662 semapv:UnspecifiedMatching MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome skos:exactMatch DOID:0111608 distal arthrogryposis type 5 semapv:UnspecifiedMatching MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome skos:exactMatch MEDGEN:350678 semapv:UnspecifiedMatching MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome skos:exactMatch OMIM:108145 arthrogryposis, distal, type 5 semapv:UnspecifiedMatching MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome skos:exactMatch Orphanet:1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome semapv:UnspecifiedMatching MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome skos:exactMatch SCTID:715217004 semapv:UnspecifiedMatching MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome skos:exactMatch UMLS:C1862472 semapv:UnspecifiedMatching MONDO:0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome skos:exactMatch DOID:0111609 distal arthrogryposis type 6 semapv:UnspecifiedMatching MONDO:0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome skos:exactMatch MEDGEN:350677 semapv:UnspecifiedMatching MONDO:0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome skos:exactMatch OMIM:108200 arthrogryposis, distal, type 6 semapv:UnspecifiedMatching MONDO:0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome skos:exactMatch Orphanet:1144 Arthrogryposis-like hand anomaly-sensorineural deafness syndrome semapv:UnspecifiedMatching MONDO:0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome skos:exactMatch SCTID:720515009 semapv:UnspecifiedMatching MONDO:0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome skos:exactMatch UMLS:C1862471 semapv:UnspecifiedMatching MONDO:0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome skos:exactMatch mesh:C535386 semapv:UnspecifiedMatching MONDO:0007160 Stickler syndrome type 1 skos:exactMatch DOID:0080676 Stickler syndrome 1 semapv:UnspecifiedMatching MONDO:0007160 Stickler syndrome type 1 skos:exactMatch MEDGEN:810955 semapv:UnspecifiedMatching MONDO:0007160 Stickler syndrome type 1 skos:exactMatch NCIT:C168733 Stickler Syndrome Type 1 semapv:UnspecifiedMatching MONDO:0007160 Stickler syndrome type 1 skos:exactMatch OMIM:108300 stickler syndrome, type 1 semapv:UnspecifiedMatching MONDO:0007160 Stickler syndrome type 1 skos:exactMatch Orphanet:90653 Stickler syndrome type 1 semapv:UnspecifiedMatching MONDO:0007160 Stickler syndrome type 1 skos:exactMatch UMLS:C2020284 semapv:UnspecifiedMatching MONDO:0007160 Stickler syndrome type 1 skos:exactMatch icd11.foundation:203625278 Stickler syndrome type 1 semapv:UnspecifiedMatching MONDO:0007160 Stickler syndrome type 1 skos:exactMatch mesh:C537492 semapv:UnspecifiedMatching MONDO:0007161 spermatogenic failure 2 skos:exactMatch DOID:0070164 spermatogenic failure 2 semapv:UnspecifiedMatching MONDO:0007161 spermatogenic failure 2 skos:exactMatch MEDGEN:400056 semapv:UnspecifiedMatching MONDO:0007161 spermatogenic failure 2 skos:exactMatch OMIM:108420 spermatogenic failure 2 semapv:UnspecifiedMatching MONDO:0007161 spermatogenic failure 2 skos:exactMatch UMLS:C1862459 semapv:UnspecifiedMatching MONDO:0007162 asymmetric short stature syndrome skos:exactMatch MEDGEN:354753 semapv:UnspecifiedMatching MONDO:0007162 asymmetric short stature syndrome skos:exactMatch OMIM:108450 asymmetric short stature syndrome semapv:UnspecifiedMatching MONDO:0007162 asymmetric short stature syndrome skos:exactMatch UMLS:C1862458 semapv:UnspecifiedMatching MONDO:0007162 asymmetric short stature syndrome skos:exactMatch mesh:C566248 semapv:UnspecifiedMatching MONDO:0007163 episodic ataxia type 2 skos:exactMatch DOID:0050990 episodic ataxia type 2 semapv:UnspecifiedMatching MONDO:0007163 episodic ataxia type 2 skos:exactMatch MEDGEN:314039 semapv:UnspecifiedMatching MONDO:0007163 episodic ataxia type 2 skos:exactMatch OMIM:108500 episodic ataxia, type 2 semapv:UnspecifiedMatching MONDO:0007163 episodic ataxia type 2 skos:exactMatch Orphanet:97 Familial paroxysmal ataxia semapv:UnspecifiedMatching MONDO:0007163 episodic ataxia type 2 skos:exactMatch SCTID:420932006 semapv:UnspecifiedMatching MONDO:0007163 episodic ataxia type 2 skos:exactMatch UMLS:C1720416 semapv:UnspecifiedMatching MONDO:0007163 episodic ataxia type 2 skos:exactMatch mesh:C535506 semapv:UnspecifiedMatching MONDO:0007164 spastic ataxia 1 skos:exactMatch DOID:0050772 spastic ataxia 1 semapv:UnspecifiedMatching MONDO:0007164 spastic ataxia 1 skos:exactMatch MEDGEN:409988 semapv:UnspecifiedMatching MONDO:0007164 spastic ataxia 1 skos:exactMatch OMIM:108600 spastic ataxia 1, autosomal dominant semapv:UnspecifiedMatching MONDO:0007164 spastic ataxia 1 skos:exactMatch Orphanet:251282 Autosomal dominant spastic ataxia type 1 semapv:UnspecifiedMatching MONDO:0007164 spastic ataxia 1 skos:exactMatch UMLS:C1970107 semapv:UnspecifiedMatching MONDO:0007164 spastic ataxia 1 skos:exactMatch mesh:C566993 semapv:UnspecifiedMatching MONDO:0007165 spastic ataxia 7 skos:exactMatch DOID:0050945 spastic ataxia 7 semapv:UnspecifiedMatching MONDO:0007165 spastic ataxia 7 skos:exactMatch MEDGEN:354750 semapv:UnspecifiedMatching MONDO:0007165 spastic ataxia 7 skos:exactMatch OMIM:108650 spastic ataxia 7, autosomal dominant semapv:UnspecifiedMatching MONDO:0007165 spastic ataxia 7 skos:exactMatch Orphanet:1182 Spastic ataxia with congenital miosis semapv:UnspecifiedMatching MONDO:0007165 spastic ataxia 7 skos:exactMatch SCTID:763669001 semapv:UnspecifiedMatching MONDO:0007165 spastic ataxia 7 skos:exactMatch UMLS:C1862441 semapv:UnspecifiedMatching MONDO:0007165 spastic ataxia 7 skos:exactMatch mesh:C566247 semapv:UnspecifiedMatching MONDO:0007166 ataxia with fasciculations skos:exactMatch MEDGEN:400052 semapv:UnspecifiedMatching MONDO:0007166 ataxia with fasciculations skos:exactMatch OMIM:108700 ataxia with fasciculations semapv:UnspecifiedMatching MONDO:0007166 ataxia with fasciculations skos:exactMatch UMLS:C1862440 semapv:UnspecifiedMatching MONDO:0007166 ataxia with fasciculations skos:exactMatch mesh:C566246 semapv:UnspecifiedMatching MONDO:0007167 atelosteogenesis type I skos:exactMatch MEDGEN:82701 semapv:UnspecifiedMatching MONDO:0007167 atelosteogenesis type I skos:exactMatch OMIM:108720 atelosteogenesis, type 1 semapv:UnspecifiedMatching MONDO:0007167 atelosteogenesis type I skos:exactMatch Orphanet:1190 Atelosteogenesis type I semapv:UnspecifiedMatching MONDO:0007167 atelosteogenesis type I skos:exactMatch SCTID:725141006 semapv:UnspecifiedMatching MONDO:0007167 atelosteogenesis type I skos:exactMatch UMLS:C0265283 semapv:UnspecifiedMatching MONDO:0007167 atelosteogenesis type I skos:exactMatch icd11.foundation:449799342 Atelosteogenesis type I semapv:UnspecifiedMatching MONDO:0007167 atelosteogenesis type I skos:exactMatch mesh:C535396 semapv:UnspecifiedMatching MONDO:0007168 atelosteogenesis type III skos:exactMatch MEDGEN:777149 semapv:UnspecifiedMatching MONDO:0007168 atelosteogenesis type III skos:exactMatch OMIM:108721 atelosteogenesis, type 3 semapv:UnspecifiedMatching MONDO:0007168 atelosteogenesis type III skos:exactMatch Orphanet:56305 Atelosteogenesis type III semapv:UnspecifiedMatching MONDO:0007168 atelosteogenesis type III skos:exactMatch SCTID:725142004 semapv:UnspecifiedMatching MONDO:0007168 atelosteogenesis type III skos:exactMatch UMLS:C3668942 semapv:UnspecifiedMatching MONDO:0007168 atelosteogenesis type III skos:exactMatch icd11.foundation:1997882528 Atelosteogenesis type III semapv:UnspecifiedMatching MONDO:0007168 atelosteogenesis type III skos:exactMatch mesh:C579928 semapv:UnspecifiedMatching MONDO:0007169 atherosclerosis susceptibility skos:exactMatch MEDGEN:283903 semapv:UnspecifiedMatching MONDO:0007169 atherosclerosis susceptibility skos:exactMatch OMIM:108725 atherosclerosis susceptibility semapv:UnspecifiedMatching MONDO:0007169 atherosclerosis susceptibility skos:exactMatch UMLS:C1531719 semapv:UnspecifiedMatching MONDO:0007170 atresia of external auditory canal and conductive deafness skos:exactMatch MEDGEN:502760 semapv:UnspecifiedMatching MONDO:0007170 atresia of external auditory canal and conductive deafness skos:exactMatch OMIM:108760 atresia of external auditory canal and conductive deafness semapv:UnspecifiedMatching MONDO:0007170 atresia of external auditory canal and conductive deafness skos:exactMatch UMLS:C3502361 semapv:UnspecifiedMatching MONDO:0007171 atrial standstill 1 skos:exactMatch DOID:0080662 atrial standstill 1 semapv:UnspecifiedMatching MONDO:0007171 atrial standstill 1 skos:exactMatch MEDGEN:1646392 semapv:UnspecifiedMatching MONDO:0007171 atrial standstill 1 skos:exactMatch OMIM:108770 atrial standstill 1 semapv:UnspecifiedMatching MONDO:0007171 atrial standstill 1 skos:exactMatch UMLS:C4551959 semapv:UnspecifiedMatching MONDO:0007172 atrial septal defect 1 skos:exactMatch DOID:0110106 atrial heart septal defect 1 semapv:UnspecifiedMatching MONDO:0007172 atrial septal defect 1 skos:exactMatch MEDGEN:349495 semapv:UnspecifiedMatching MONDO:0007172 atrial septal defect 1 skos:exactMatch OMIM:108800 atrial septal defect 1 semapv:UnspecifiedMatching MONDO:0007172 atrial septal defect 1 skos:exactMatch UMLS:C1862389 semapv:UnspecifiedMatching MONDO:0007173 atrial septal defect 7 skos:exactMatch DOID:0110112 atrial heart septal defect 7 semapv:UnspecifiedMatching MONDO:0007173 atrial septal defect 7 skos:exactMatch MEDGEN:477726 semapv:UnspecifiedMatching MONDO:0007173 atrial septal defect 7 skos:exactMatch OMIM:108900 atrial septal defect 7 with or without atrioventricular conduction defects semapv:UnspecifiedMatching MONDO:0007173 atrial septal defect 7 skos:exactMatch Orphanet:1479 Atrial septal defect-atrioventricular conduction defects syndrome semapv:UnspecifiedMatching MONDO:0007173 atrial septal defect 7 skos:exactMatch UMLS:C3276096 semapv:UnspecifiedMatching MONDO:0007174 Lown-Ganong-Levine syndrome skos:exactMatch DOID:13087 Lown-Ganong-Levine syndrome semapv:UnspecifiedMatching MONDO:0007174 Lown-Ganong-Levine syndrome skos:exactMatch MEDGEN:354734 semapv:UnspecifiedMatching MONDO:0007174 Lown-Ganong-Levine syndrome skos:exactMatch OMIM:108950 atrial tachyarrhythmia with short pr interval semapv:UnspecifiedMatching MONDO:0007174 Lown-Ganong-Levine syndrome skos:exactMatch SCTID:55475008 semapv:UnspecifiedMatching MONDO:0007174 Lown-Ganong-Levine syndrome skos:exactMatch UMLS:C1862387 semapv:UnspecifiedMatching MONDO:0007174 Lown-Ganong-Levine syndrome skos:exactMatch icd11.foundation:414532162 Lown-Ganong-Levine syndrome semapv:UnspecifiedMatching MONDO:0007174 Lown-Ganong-Levine syndrome skos:exactMatch mesh:D008151 semapv:UnspecifiedMatching MONDO:0007175 PR interval, variation in skos:exactMatch MEDGEN:463601 semapv:UnspecifiedMatching MONDO:0007175 PR interval, variation in skos:exactMatch OMIM:108980 pr interval, variation 1n semapv:UnspecifiedMatching MONDO:0007175 PR interval, variation in skos:exactMatch UMLS:C3152251 semapv:UnspecifiedMatching MONDO:0007176 helicoid peripapillary chorioretinal degeneration skos:exactMatch DOID:0111228 Sveinsson chorioretinal atrophy semapv:UnspecifiedMatching MONDO:0007176 helicoid peripapillary chorioretinal degeneration skos:exactMatch MEDGEN:354733 semapv:UnspecifiedMatching MONDO:0007176 helicoid peripapillary chorioretinal degeneration skos:exactMatch OMIM:108985 sveinsson chorioretinal atrophy semapv:UnspecifiedMatching MONDO:0007176 helicoid peripapillary chorioretinal degeneration skos:exactMatch Orphanet:86813 Helicoid peripapillary chorioretinal degeneration semapv:UnspecifiedMatching MONDO:0007176 helicoid peripapillary chorioretinal degeneration skos:exactMatch SCTID:724384008 semapv:UnspecifiedMatching MONDO:0007176 helicoid peripapillary chorioretinal degeneration skos:exactMatch UMLS:C1862382 semapv:UnspecifiedMatching MONDO:0007176 helicoid peripapillary chorioretinal degeneration skos:exactMatch icd11.foundation:896652469 Helicoid peripapillary chorioretinal degeneration semapv:UnspecifiedMatching MONDO:0007176 helicoid peripapillary chorioretinal degeneration skos:exactMatch mesh:C566236 semapv:UnspecifiedMatching MONDO:0007177 auriculoosteodysplasia skos:exactMatch MEDGEN:400038 semapv:UnspecifiedMatching MONDO:0007177 auriculoosteodysplasia skos:exactMatch OMIM:109000 auriculoosteodysplasia semapv:UnspecifiedMatching MONDO:0007177 auriculoosteodysplasia skos:exactMatch Orphanet:114 Auriculoosteodysplasia semapv:UnspecifiedMatching MONDO:0007177 auriculoosteodysplasia skos:exactMatch UMLS:C1862381 semapv:UnspecifiedMatching MONDO:0007177 auriculoosteodysplasia skos:exactMatch mesh:C538271 semapv:UnspecifiedMatching MONDO:0007178 aurocephalosyndactyly skos:exactMatch MEDGEN:354732 semapv:UnspecifiedMatching MONDO:0007178 aurocephalosyndactyly skos:exactMatch OMIM:109050 aurocephalosyndactyly semapv:UnspecifiedMatching MONDO:0007178 aurocephalosyndactyly skos:exactMatch UMLS:C1862380 semapv:UnspecifiedMatching MONDO:0007178 aurocephalosyndactyly skos:exactMatch icd11.foundation:1849836237 Aurocephalosyndactyly semapv:UnspecifiedMatching MONDO:0007178 aurocephalosyndactyly skos:exactMatch mesh:C566235 semapv:UnspecifiedMatching MONDO:0007179 autoimmune disease skos:exactMatch DOID:417 autoimmune disease semapv:UnspecifiedMatching MONDO:0007179 autoimmune disease skos:exactMatch EFO:0005809 semapv:UnspecifiedMatching MONDO:0007179 autoimmune disease skos:exactMatch MEDGEN:2135 semapv:UnspecifiedMatching MONDO:0007179 autoimmune disease skos:exactMatch NCIT:C2889 Autoimmune Disease semapv:UnspecifiedMatching MONDO:0007179 autoimmune disease skos:exactMatch OMIM:109100 autoimmune disease semapv:UnspecifiedMatching MONDO:0007179 autoimmune disease skos:exactMatch SCTID:85828009 semapv:UnspecifiedMatching MONDO:0007179 autoimmune disease skos:exactMatch UMLS:C0004364 semapv:UnspecifiedMatching MONDO:0007179 autoimmune disease skos:exactMatch mesh:D001327 semapv:UnspecifiedMatching MONDO:0007180 Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities skos:exactMatch MEDGEN:349489 semapv:UnspecifiedMatching MONDO:0007180 Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities skos:exactMatch OMIM:109120 axenfeld-rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities semapv:UnspecifiedMatching MONDO:0007180 Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities skos:exactMatch UMLS:C1862373 semapv:UnspecifiedMatching MONDO:0007180 Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities skos:exactMatch mesh:C566234 semapv:UnspecifiedMatching MONDO:0007181 axial osteomalacia skos:exactMatch DOID:0080039 axial osteomalacia semapv:UnspecifiedMatching MONDO:0007181 axial osteomalacia skos:exactMatch MEDGEN:354730 semapv:UnspecifiedMatching MONDO:0007181 axial osteomalacia skos:exactMatch OMIM:109130 axial osteomalacia semapv:UnspecifiedMatching MONDO:0007181 axial osteomalacia skos:exactMatch UMLS:C1862372 semapv:UnspecifiedMatching MONDO:0007181 axial osteomalacia skos:exactMatch mesh:C537791 semapv:UnspecifiedMatching MONDO:0007182 Machado-Joseph disease skos:exactMatch DOID:1440 Machado-Joseph disease semapv:UnspecifiedMatching MONDO:0007182 Machado-Joseph disease skos:exactMatch MEDGEN:9841 semapv:UnspecifiedMatching MONDO:0007182 Machado-Joseph disease skos:exactMatch NCIT:C84830 Spinocerebellar Ataxia Type 3 semapv:UnspecifiedMatching MONDO:0007182 Machado-Joseph disease skos:exactMatch OMIM:109150 machado-joseph disease semapv:UnspecifiedMatching MONDO:0007182 Machado-Joseph disease skos:exactMatch Orphanet:98757 Spinocerebellar ataxia type 3 semapv:UnspecifiedMatching MONDO:0007182 Machado-Joseph disease skos:exactMatch SCTID:91952008 semapv:UnspecifiedMatching MONDO:0007182 Machado-Joseph disease skos:exactMatch UMLS:C0024408 semapv:UnspecifiedMatching MONDO:0007182 Machado-Joseph disease skos:exactMatch mesh:D017827 semapv:UnspecifiedMatching MONDO:0007183 azotemia, familial skos:exactMatch MEDGEN:400033 semapv:UnspecifiedMatching MONDO:0007183 azotemia, familial skos:exactMatch OMIM:109160 azotemia, familial semapv:UnspecifiedMatching MONDO:0007183 azotemia, familial skos:exactMatch UMLS:C1862358 semapv:UnspecifiedMatching MONDO:0007183 azotemia, familial skos:exactMatch mesh:C566233 semapv:UnspecifiedMatching MONDO:0007184 alopecia, androgenetic, 1 skos:exactMatch MEDGEN:886756 semapv:UnspecifiedMatching MONDO:0007184 alopecia, androgenetic, 1 skos:exactMatch OMIM:109200 alopecia, androgenetic, 1 semapv:UnspecifiedMatching MONDO:0007184 alopecia, androgenetic, 1 skos:exactMatch UMLS:C4049090 semapv:UnspecifiedMatching MONDO:0007185 Banki syndrome skos:exactMatch MEDGEN:350648 semapv:UnspecifiedMatching MONDO:0007185 Banki syndrome skos:exactMatch OMIM:109300 banki syndrome semapv:UnspecifiedMatching MONDO:0007185 Banki syndrome skos:exactMatch Orphanet:1228 Banki syndrome semapv:UnspecifiedMatching MONDO:0007185 Banki syndrome skos:exactMatch SCTID:733093004 semapv:UnspecifiedMatching MONDO:0007185 Banki syndrome skos:exactMatch UMLS:C1862319 semapv:UnspecifiedMatching MONDO:0007185 Banki syndrome skos:exactMatch mesh:C566228 semapv:UnspecifiedMatching MONDO:0007186 gastroesophageal reflux disease skos:exactMatch DOID:8534 gastroesophageal reflux disease semapv:UnspecifiedMatching MONDO:0007186 gastroesophageal reflux disease skos:exactMatch EFO:0003948 semapv:UnspecifiedMatching MONDO:0007186 gastroesophageal reflux disease skos:exactMatch MEDGEN:6553 semapv:UnspecifiedMatching MONDO:0007186 gastroesophageal reflux disease skos:exactMatch NCIT:C26781 Gastroesophageal Reflux Disease semapv:UnspecifiedMatching MONDO:0007186 gastroesophageal reflux disease skos:exactMatch OMIM:109350 gastroesophageal reflux semapv:UnspecifiedMatching MONDO:0007186 gastroesophageal reflux disease skos:exactMatch SCTID:235595009 semapv:UnspecifiedMatching MONDO:0007186 gastroesophageal reflux disease skos:exactMatch UMLS:C0017168 semapv:UnspecifiedMatching MONDO:0007186 gastroesophageal reflux disease skos:exactMatch icd11.foundation:1391387859 Gastro-oesophageal reflux disease semapv:UnspecifiedMatching MONDO:0007186 gastroesophageal reflux disease skos:exactMatch mesh:D005764 semapv:UnspecifiedMatching MONDO:0007187 nevoid basal cell carcinoma syndrome skos:exactMatch DOID:0070365 nevoid basal cell carcinoma syndrome 1 semapv:UnspecifiedMatching MONDO:0007187 nevoid basal cell carcinoma syndrome skos:exactMatch DOID:2512 nevoid basal cell carcinoma syndrome semapv:UnspecifiedMatching MONDO:0007187 nevoid basal cell carcinoma syndrome skos:exactMatch MEDGEN:2554 semapv:UnspecifiedMatching MONDO:0007187 nevoid basal cell carcinoma syndrome skos:exactMatch NCIT:C2892 Nevoid Basal Cell Carcinoma Syndrome semapv:UnspecifiedMatching MONDO:0007187 nevoid basal cell carcinoma syndrome skos:exactMatch OMIMPS:109400 Basal cell nevus syndrome semapv:UnspecifiedMatching MONDO:0007187 nevoid basal cell carcinoma syndrome skos:exactMatch Orphanet:377 Gorlin syndrome semapv:UnspecifiedMatching MONDO:0007187 nevoid basal cell carcinoma syndrome skos:exactMatch SCTID:69408002 semapv:UnspecifiedMatching MONDO:0007187 nevoid basal cell carcinoma syndrome skos:exactMatch UMLS:C0004779 semapv:UnspecifiedMatching MONDO:0007187 nevoid basal cell carcinoma syndrome skos:exactMatch icd11.foundation:1012745138 Gorlin syndrome semapv:UnspecifiedMatching MONDO:0007187 nevoid basal cell carcinoma syndrome skos:exactMatch mesh:D001478 semapv:UnspecifiedMatching MONDO:0007188 primary basilar invagination skos:exactMatch MEDGEN:400018 semapv:UnspecifiedMatching MONDO:0007188 primary basilar invagination skos:exactMatch OMIM:109500 basilar impression, primary semapv:UnspecifiedMatching MONDO:0007188 primary basilar invagination skos:exactMatch Orphanet:2285 Primary basilar invagination semapv:UnspecifiedMatching MONDO:0007188 primary basilar invagination skos:exactMatch UMLS:C1862299 semapv:UnspecifiedMatching MONDO:0007188 primary basilar invagination skos:exactMatch mesh:C566226 semapv:UnspecifiedMatching MONDO:0007189 obsolete B-cell growth factor skos:exactMatch OMIM:109540 b-cell growth factor semapv:UnspecifiedMatching MONDO:0007190 leukemia, chronic lymphocytic, susceptibility to, 2 skos:exactMatch MEDGEN:358385 semapv:UnspecifiedMatching MONDO:0007190 leukemia, chronic lymphocytic, susceptibility to, 2 skos:exactMatch OMIM:109543 leukemia, chronic lymphocytic, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0007190 leukemia, chronic lymphocytic, susceptibility to, 2 skos:exactMatch UMLS:C1868683 semapv:UnspecifiedMatching MONDO:0007191 Behcet disease skos:exactMatch DOID:13241 Behcet's disease semapv:UnspecifiedMatching MONDO:0007191 Behcet disease skos:exactMatch EFO:0003780 semapv:UnspecifiedMatching MONDO:0007191 Behcet disease skos:exactMatch MEDGEN:2568 semapv:UnspecifiedMatching MONDO:0007191 Behcet disease skos:exactMatch NCIT:C34416 Behcet Syndrome semapv:UnspecifiedMatching MONDO:0007191 Behcet disease skos:exactMatch OMIM:109650 Behcet syndrome semapv:UnspecifiedMatching MONDO:0007191 Behcet disease skos:exactMatch Orphanet:117 Behçet disease semapv:UnspecifiedMatching MONDO:0007191 Behcet disease skos:exactMatch SCTID:310701003 semapv:UnspecifiedMatching MONDO:0007191 Behcet disease skos:exactMatch UMLS:C0004943 semapv:UnspecifiedMatching MONDO:0007191 Behcet disease skos:exactMatch icd11.foundation:1668927157 Behet disease semapv:UnspecifiedMatching MONDO:0007191 Behcet disease skos:exactMatch mesh:D001528 semapv:UnspecifiedMatching MONDO:0007192 beta-amino acids, renal transport of skos:exactMatch MEDGEN:349470 semapv:UnspecifiedMatching MONDO:0007192 beta-amino acids, renal transport of skos:exactMatch OMIM:109660 beta-amino acids, renal transport of semapv:UnspecifiedMatching MONDO:0007192 beta-amino acids, renal transport of skos:exactMatch UMLS:C1862289 semapv:UnspecifiedMatching MONDO:0007193 primary biliary cholangitis 1 skos:exactMatch DOID:0070358 primary biliary cholangitis 1 semapv:UnspecifiedMatching MONDO:0007193 primary biliary cholangitis 1 skos:exactMatch MEDGEN:1642459 semapv:UnspecifiedMatching MONDO:0007193 primary biliary cholangitis 1 skos:exactMatch OMIM:109720 biliary cirrhosis, primary, 1 semapv:UnspecifiedMatching MONDO:0007193 primary biliary cholangitis 1 skos:exactMatch UMLS:C4551595 semapv:UnspecifiedMatching MONDO:0007194 familial bicuspid aortic valve skos:exactMatch DOID:0080332 bicuspid aortic valve disease semapv:UnspecifiedMatching MONDO:0007194 familial bicuspid aortic valve skos:exactMatch MEDGEN:1670287 semapv:UnspecifiedMatching MONDO:0007194 familial bicuspid aortic valve skos:exactMatch OMIMPS:109730 Aortic valve disease semapv:UnspecifiedMatching MONDO:0007194 familial bicuspid aortic valve skos:exactMatch Orphanet:402075 Familial bicuspid aortic valve semapv:UnspecifiedMatching MONDO:0007194 familial bicuspid aortic valve skos:exactMatch UMLS:C4749284 semapv:UnspecifiedMatching MONDO:0007195 bifid nose, autosomal dominant skos:exactMatch MEDGEN:414016 semapv:UnspecifiedMatching MONDO:0007195 bifid nose, autosomal dominant skos:exactMatch OMIM:109740 bifid nose, autosomal dominant semapv:UnspecifiedMatching MONDO:0007195 bifid nose, autosomal dominant skos:exactMatch UMLS:C2751431 semapv:UnspecifiedMatching MONDO:0007197 bladder diverticulum skos:exactMatch DOID:11353 bladder diverticulum semapv:UnspecifiedMatching MONDO:0007197 bladder diverticulum skos:exactMatch ICD10CM:N32.3 Diverticulum of bladder semapv:UnspecifiedMatching MONDO:0007197 bladder diverticulum skos:exactMatch MEDGEN:57625 semapv:UnspecifiedMatching MONDO:0007197 bladder diverticulum skos:exactMatch NCIT:C160155 Bladder Diverticulum semapv:UnspecifiedMatching MONDO:0007197 bladder diverticulum skos:exactMatch OMIM:109820 bladder diverticulum semapv:UnspecifiedMatching MONDO:0007197 bladder diverticulum skos:exactMatch SCTID:197866008 semapv:UnspecifiedMatching MONDO:0007197 bladder diverticulum skos:exactMatch UMLS:C0156273 semapv:UnspecifiedMatching MONDO:0007197 bladder diverticulum skos:exactMatch mesh:C562406 semapv:UnspecifiedMatching MONDO:0007198 Ascher syndrome skos:exactMatch MEDGEN:137910 semapv:UnspecifiedMatching MONDO:0007198 Ascher syndrome skos:exactMatch OMIM:109900 blepharochalasis and double 51p semapv:UnspecifiedMatching MONDO:0007198 Ascher syndrome skos:exactMatch Orphanet:1253 Ascher syndrome semapv:UnspecifiedMatching MONDO:0007198 Ascher syndrome skos:exactMatch SCTID:28599006 semapv:UnspecifiedMatching MONDO:0007198 Ascher syndrome skos:exactMatch UMLS:C0339085 semapv:UnspecifiedMatching MONDO:0007198 Ascher syndrome skos:exactMatch icd11.foundation:1063203220 Ascher syndrome semapv:UnspecifiedMatching MONDO:0007198 Ascher syndrome skos:exactMatch mesh:C562742 semapv:UnspecifiedMatching MONDO:0007199 blepharochalasis, superior skos:exactMatch MEDGEN:349465 semapv:UnspecifiedMatching MONDO:0007199 blepharochalasis, superior skos:exactMatch OMIM:110000 blepharochalasis, superior semapv:UnspecifiedMatching MONDO:0007199 blepharochalasis, superior skos:exactMatch UMLS:C1862275 semapv:UnspecifiedMatching MONDO:0007199 blepharochalasis, superior skos:exactMatch mesh:C566223 semapv:UnspecifiedMatching MONDO:0007200 blepharonasofacial malformation syndrome skos:exactMatch MEDGEN:163226 semapv:UnspecifiedMatching MONDO:0007200 blepharonasofacial malformation syndrome skos:exactMatch OMIM:110050 blepharonasofacial malformation syndrome semapv:UnspecifiedMatching MONDO:0007200 blepharonasofacial malformation syndrome skos:exactMatch Orphanet:1252 Blepharonasofacial malformation syndrome semapv:UnspecifiedMatching MONDO:0007200 blepharonasofacial malformation syndrome skos:exactMatch SCTID:717913006 semapv:UnspecifiedMatching MONDO:0007200 blepharonasofacial malformation syndrome skos:exactMatch UMLS:C0796197 semapv:UnspecifiedMatching MONDO:0007200 blepharonasofacial malformation syndrome skos:exactMatch mesh:C536303 semapv:UnspecifiedMatching MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome skos:exactMatch DOID:14778 blepharophimosis, ptosis, and epicanthus inversus syndrome semapv:UnspecifiedMatching MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome skos:exactMatch MEDGEN:66312 semapv:UnspecifiedMatching MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome skos:exactMatch OMIM:110100 blepharophimosis, ptosis, and epicanthus inversus semapv:UnspecifiedMatching MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome skos:exactMatch Orphanet:126 Blepharophimosis-ptosis-epicanthus inversus syndrome semapv:UnspecifiedMatching MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome skos:exactMatch SCTID:715391004 semapv:UnspecifiedMatching MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome skos:exactMatch UMLS:C0220663 semapv:UnspecifiedMatching MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome skos:exactMatch mesh:C562419 semapv:UnspecifiedMatching MONDO:0007202 blepharoptosis-myopia-ectopia lentis syndrome skos:exactMatch MEDGEN:400006 semapv:UnspecifiedMatching MONDO:0007202 blepharoptosis-myopia-ectopia lentis syndrome skos:exactMatch OMIM:110150 blepharoptosis, myopia, and ectopia lentis semapv:UnspecifiedMatching MONDO:0007202 blepharoptosis-myopia-ectopia lentis syndrome skos:exactMatch Orphanet:1259 Blepharoptosis-myopia-ectopia lentis syndrome semapv:UnspecifiedMatching MONDO:0007202 blepharoptosis-myopia-ectopia lentis syndrome skos:exactMatch SCTID:717915004 semapv:UnspecifiedMatching MONDO:0007202 blepharoptosis-myopia-ectopia lentis syndrome skos:exactMatch UMLS:C1862259 semapv:UnspecifiedMatching MONDO:0007202 blepharoptosis-myopia-ectopia lentis syndrome skos:exactMatch mesh:C536236 semapv:UnspecifiedMatching MONDO:0007203 blue rubber bleb nevus skos:exactMatch MEDGEN:83401 semapv:UnspecifiedMatching MONDO:0007203 blue rubber bleb nevus skos:exactMatch NCIT:C4486 Blue Rubber Bleb Nevus Syndrome semapv:UnspecifiedMatching MONDO:0007203 blue rubber bleb nevus skos:exactMatch OMIM:112200 blue rubber bleb nevus semapv:UnspecifiedMatching MONDO:0007203 blue rubber bleb nevus skos:exactMatch Orphanet:1059 Blue rubber bleb nevus semapv:UnspecifiedMatching MONDO:0007203 blue rubber bleb nevus skos:exactMatch SCTID:254784002 semapv:UnspecifiedMatching MONDO:0007203 blue rubber bleb nevus skos:exactMatch UMLS:C0346072 semapv:UnspecifiedMatching MONDO:0007203 blue rubber bleb nevus skos:exactMatch mesh:C536240 semapv:UnspecifiedMatching MONDO:0007204 Cole-Carpenter syndrome 1 skos:exactMatch MEDGEN:1374755 semapv:UnspecifiedMatching MONDO:0007204 Cole-Carpenter syndrome 1 skos:exactMatch OMIM:112240 cole-carpenter syndrome 1 semapv:UnspecifiedMatching MONDO:0007204 Cole-Carpenter syndrome 1 skos:exactMatch UMLS:C4317154 semapv:UnspecifiedMatching MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome skos:exactMatch DOID:0080664 diaphyseal medullary stenosis with malignant fibrous histiocytoma semapv:UnspecifiedMatching MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome skos:exactMatch MEDGEN:350613 semapv:UnspecifiedMatching MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome skos:exactMatch NCIT:C122660 Hardcastle's Syndrome semapv:UnspecifiedMatching MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome skos:exactMatch OMIM:112250 diaphyseal medullary stenosis with malignant fibrous histiocytoma semapv:UnspecifiedMatching MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome skos:exactMatch Orphanet:85182 Diaphyseal medullary stenosis-bone malignancy syndrome semapv:UnspecifiedMatching MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome skos:exactMatch UMLS:C1862177 semapv:UnspecifiedMatching MONDO:0007206 bone pain, periodic skos:exactMatch MEDGEN:350612 semapv:UnspecifiedMatching MONDO:0007206 bone pain, periodic skos:exactMatch OMIM:112270 bone pain, periodic semapv:UnspecifiedMatching MONDO:0007206 bone pain, periodic skos:exactMatch UMLS:C1862176 semapv:UnspecifiedMatching MONDO:0007207 Böök syndrome skos:exactMatch MEDGEN:99140 semapv:UnspecifiedMatching MONDO:0007207 Böök syndrome skos:exactMatch OMIM:112300 book syndrome semapv:UnspecifiedMatching MONDO:0007207 Böök syndrome skos:exactMatch Orphanet:1262 Böök syndrome semapv:UnspecifiedMatching MONDO:0007207 Böök syndrome skos:exactMatch SCTID:722296002 semapv:UnspecifiedMatching MONDO:0007207 Böök syndrome skos:exactMatch UMLS:C0457014 semapv:UnspecifiedMatching MONDO:0007207 Böök syndrome skos:exactMatch mesh:C562993 semapv:UnspecifiedMatching MONDO:0007208 Boomerang dysplasia skos:exactMatch DOID:0050680 Boomerang dysplasia semapv:UnspecifiedMatching MONDO:0007208 Boomerang dysplasia skos:exactMatch MEDGEN:96579 semapv:UnspecifiedMatching MONDO:0007208 Boomerang dysplasia skos:exactMatch OMIM:112310 boomerang dysplasia semapv:UnspecifiedMatching MONDO:0007208 Boomerang dysplasia skos:exactMatch Orphanet:1263 Boomerang dysplasia semapv:UnspecifiedMatching MONDO:0007208 Boomerang dysplasia skos:exactMatch SCTID:254054000 semapv:UnspecifiedMatching MONDO:0007208 Boomerang dysplasia skos:exactMatch UMLS:C0432201 semapv:UnspecifiedMatching MONDO:0007208 Boomerang dysplasia skos:exactMatch icd11.foundation:423736259 Boomerang dysplasia semapv:UnspecifiedMatching MONDO:0007208 Boomerang dysplasia skos:exactMatch mesh:C536573 semapv:UnspecifiedMatching MONDO:0007209 Weismann-Netter syndrome skos:exactMatch MEDGEN:350610 semapv:UnspecifiedMatching MONDO:0007209 Weismann-Netter syndrome skos:exactMatch OMIM:112350 weismann-netter syndrome semapv:UnspecifiedMatching MONDO:0007209 Weismann-Netter syndrome skos:exactMatch Orphanet:3344 Weismann-Netter syndrome semapv:UnspecifiedMatching MONDO:0007209 Weismann-Netter syndrome skos:exactMatch SCTID:715532007 semapv:UnspecifiedMatching MONDO:0007209 Weismann-Netter syndrome skos:exactMatch UMLS:C1862172 semapv:UnspecifiedMatching MONDO:0007209 Weismann-Netter syndrome skos:exactMatch icd11.foundation:180927608 Weismann-Netter syndrome semapv:UnspecifiedMatching MONDO:0007209 Weismann-Netter syndrome skos:exactMatch mesh:C537082 semapv:UnspecifiedMatching MONDO:0007210 Brachmann-de Lange-like facial changes with microcephaly, metatarsus adductus, and developmental delay skos:exactMatch MEDGEN:396307 semapv:UnspecifiedMatching MONDO:0007210 Brachmann-de Lange-like facial changes with microcephaly, metatarsus adductus, and developmental delay skos:exactMatch OMIM:112370 brachmann-de lange-like facial changes with microcephaly, metatarsus adductus, and developmental delay semapv:UnspecifiedMatching MONDO:0007210 Brachmann-de Lange-like facial changes with microcephaly, metatarsus adductus, and developmental delay skos:exactMatch UMLS:C1862171 semapv:UnspecifiedMatching MONDO:0007210 Brachmann-de Lange-like facial changes with microcephaly, metatarsus adductus, and developmental delay skos:exactMatch mesh:C566206 semapv:UnspecifiedMatching MONDO:0007211 brachydactyly-arterial hypertension syndrome skos:exactMatch DOID:0111247 hypertension and brachydactyly syndrome semapv:UnspecifiedMatching MONDO:0007211 brachydactyly-arterial hypertension syndrome skos:exactMatch MEDGEN:349445 semapv:UnspecifiedMatching MONDO:0007211 brachydactyly-arterial hypertension syndrome skos:exactMatch OMIM:112410 hypertension and brachydactyly syndrome semapv:UnspecifiedMatching MONDO:0007211 brachydactyly-arterial hypertension syndrome skos:exactMatch Orphanet:1276 Brachydactyly-arterial hypertension syndrome semapv:UnspecifiedMatching MONDO:0007211 brachydactyly-arterial hypertension syndrome skos:exactMatch SCTID:720568003 semapv:UnspecifiedMatching MONDO:0007211 brachydactyly-arterial hypertension syndrome skos:exactMatch UMLS:C1862170 semapv:UnspecifiedMatching MONDO:0007211 brachydactyly-arterial hypertension syndrome skos:exactMatch mesh:C537095 semapv:UnspecifiedMatching MONDO:0007212 brachydactyly-long thumb syndrome skos:exactMatch MEDGEN:350609 semapv:UnspecifiedMatching MONDO:0007212 brachydactyly-long thumb syndrome skos:exactMatch OMIM:112430 long-thumb brachydactyly syndrome semapv:UnspecifiedMatching MONDO:0007212 brachydactyly-long thumb syndrome skos:exactMatch Orphanet:2946 Brachydactyly-long thumb syndrome semapv:UnspecifiedMatching MONDO:0007212 brachydactyly-long thumb syndrome skos:exactMatch SCTID:733454004 semapv:UnspecifiedMatching MONDO:0007212 brachydactyly-long thumb syndrome skos:exactMatch UMLS:C1862169 semapv:UnspecifiedMatching MONDO:0007212 brachydactyly-long thumb syndrome skos:exactMatch mesh:C566204 semapv:UnspecifiedMatching MONDO:0007213 Ballard syndrome skos:exactMatch DOID:0110963 Ballard syndrome semapv:UnspecifiedMatching MONDO:0007213 Ballard syndrome skos:exactMatch MEDGEN:349443 semapv:UnspecifiedMatching MONDO:0007213 Ballard syndrome skos:exactMatch OMIM:112440 brachydactyly, combined B and e types semapv:UnspecifiedMatching MONDO:0007213 Ballard syndrome skos:exactMatch SCTID:722298001 semapv:UnspecifiedMatching MONDO:0007213 Ballard syndrome skos:exactMatch UMLS:C1862163 semapv:UnspecifiedMatching MONDO:0007213 Ballard syndrome skos:exactMatch icd11.foundation:94436217 Ballard syndrome semapv:UnspecifiedMatching MONDO:0007213 Ballard syndrome skos:exactMatch mesh:C537094 semapv:UnspecifiedMatching MONDO:0007214 brachydactyly-preaxial hallux varus syndrome skos:exactMatch DOID:0110962 brachydactyly-preaxial hallux varus syndrome semapv:UnspecifiedMatching MONDO:0007214 brachydactyly-preaxial hallux varus syndrome skos:exactMatch MEDGEN:349442 semapv:UnspecifiedMatching MONDO:0007214 brachydactyly-preaxial hallux varus syndrome skos:exactMatch OMIM:112450 brachydactyly, preaxial, with hallux varus and thumb abduction semapv:UnspecifiedMatching MONDO:0007214 brachydactyly-preaxial hallux varus syndrome skos:exactMatch Orphanet:1278 Brachydactyly-preaxial hallux varus syndrome semapv:UnspecifiedMatching MONDO:0007214 brachydactyly-preaxial hallux varus syndrome skos:exactMatch UMLS:C1862162 semapv:UnspecifiedMatching MONDO:0007214 brachydactyly-preaxial hallux varus syndrome skos:exactMatch mesh:C537087 semapv:UnspecifiedMatching MONDO:0007215 brachydactyly type A1 skos:exactMatch DOID:0110964 brachydactyly type A1 semapv:UnspecifiedMatching MONDO:0007215 brachydactyly type A1 skos:exactMatch MEDGEN:354673 semapv:UnspecifiedMatching MONDO:0007215 brachydactyly type A1 skos:exactMatch OMIM:112500 brachydactyly, type a1 semapv:UnspecifiedMatching MONDO:0007215 brachydactyly type A1 skos:exactMatch Orphanet:93388 Brachydactyly type A1 semapv:UnspecifiedMatching MONDO:0007215 brachydactyly type A1 skos:exactMatch SCTID:715720006 semapv:UnspecifiedMatching MONDO:0007215 brachydactyly type A1 skos:exactMatch UMLS:C1862151 semapv:UnspecifiedMatching MONDO:0007215 brachydactyly type A1 skos:exactMatch icd11.foundation:568452529 Brachydactyly type A1 semapv:UnspecifiedMatching MONDO:0007215 brachydactyly type A1 skos:exactMatch mesh:C537088 semapv:UnspecifiedMatching MONDO:0007216 brachydactyly type A2 skos:exactMatch DOID:0110965 brachydactyly type A2 semapv:UnspecifiedMatching MONDO:0007216 brachydactyly type A2 skos:exactMatch MEDGEN:318690 semapv:UnspecifiedMatching MONDO:0007216 brachydactyly type A2 skos:exactMatch OMIM:112600 brachydactyly, type a2 semapv:UnspecifiedMatching MONDO:0007216 brachydactyly type A2 skos:exactMatch Orphanet:93396 Brachydactyly type A2 semapv:UnspecifiedMatching MONDO:0007216 brachydactyly type A2 skos:exactMatch SCTID:720569006 semapv:UnspecifiedMatching MONDO:0007216 brachydactyly type A2 skos:exactMatch UMLS:C1832702 semapv:UnspecifiedMatching MONDO:0007216 brachydactyly type A2 skos:exactMatch icd11.foundation:594491464 Brachydactyly type A2 semapv:UnspecifiedMatching MONDO:0007216 brachydactyly type A2 skos:exactMatch mesh:C537089 semapv:UnspecifiedMatching MONDO:0007217 brachydactyly type A3 skos:exactMatch DOID:0110966 brachydactyly type A3 semapv:UnspecifiedMatching MONDO:0007217 brachydactyly type A3 skos:exactMatch MEDGEN:354670 semapv:UnspecifiedMatching MONDO:0007217 brachydactyly type A3 skos:exactMatch OMIM:112700 brachydactyly, type a3 semapv:UnspecifiedMatching MONDO:0007217 brachydactyly type A3 skos:exactMatch UMLS:C1862140 semapv:UnspecifiedMatching MONDO:0007217 brachydactyly type A3 skos:exactMatch icd11.foundation:153446585 Brachydactyly type A3 semapv:UnspecifiedMatching MONDO:0007217 brachydactyly type A3 skos:exactMatch mesh:C537090 semapv:UnspecifiedMatching MONDO:0007218 brachydactyly type A4 skos:exactMatch DOID:0110967 brachydactyly type A4 semapv:UnspecifiedMatching MONDO:0007218 brachydactyly type A4 skos:exactMatch MEDGEN:354669 semapv:UnspecifiedMatching MONDO:0007218 brachydactyly type A4 skos:exactMatch OMIM:112800 brachydactyly, type a4 semapv:UnspecifiedMatching MONDO:0007218 brachydactyly type A4 skos:exactMatch Orphanet:93394 Brachydactyly type A4 semapv:UnspecifiedMatching MONDO:0007218 brachydactyly type A4 skos:exactMatch SCTID:715721005 semapv:UnspecifiedMatching MONDO:0007218 brachydactyly type A4 skos:exactMatch UMLS:C1862139 semapv:UnspecifiedMatching MONDO:0007218 brachydactyly type A4 skos:exactMatch icd11.foundation:10379198 Brachydactyly type A4 semapv:UnspecifiedMatching MONDO:0007218 brachydactyly type A4 skos:exactMatch mesh:C537097 semapv:UnspecifiedMatching MONDO:0007219 Osebold-Remondini syndrome skos:exactMatch DOID:0110968 brachydactyly type A6 semapv:UnspecifiedMatching MONDO:0007219 Osebold-Remondini syndrome skos:exactMatch MEDGEN:350598 semapv:UnspecifiedMatching MONDO:0007219 Osebold-Remondini syndrome skos:exactMatch OMIM:112910 osebold-remondini syndrome semapv:UnspecifiedMatching MONDO:0007219 Osebold-Remondini syndrome skos:exactMatch Orphanet:93382 Brachydactyly type A6 semapv:UnspecifiedMatching MONDO:0007219 Osebold-Remondini syndrome skos:exactMatch SCTID:715722003 semapv:UnspecifiedMatching MONDO:0007219 Osebold-Remondini syndrome skos:exactMatch UMLS:C1862130 semapv:UnspecifiedMatching MONDO:0007219 Osebold-Remondini syndrome skos:exactMatch mesh:C537092 semapv:UnspecifiedMatching MONDO:0007220 brachydactyly type B1 skos:exactMatch DOID:0110969 brachydactyly type B1 semapv:UnspecifiedMatching MONDO:0007220 brachydactyly type B1 skos:exactMatch MEDGEN:349432 semapv:UnspecifiedMatching MONDO:0007220 brachydactyly type B1 skos:exactMatch OMIM:113000 brachydactyly, type b1 semapv:UnspecifiedMatching MONDO:0007220 brachydactyly type B1 skos:exactMatch Orphanet:572385 Brachydactyly type B1 semapv:UnspecifiedMatching MONDO:0007220 brachydactyly type B1 skos:exactMatch UMLS:C1862112 semapv:UnspecifiedMatching MONDO:0007220 brachydactyly type B1 skos:exactMatch mesh:C566196 semapv:UnspecifiedMatching MONDO:0007221 brachydactyly type C skos:exactMatch DOID:0110970 brachydactyly type C semapv:UnspecifiedMatching MONDO:0007221 brachydactyly type C skos:exactMatch MEDGEN:350590 semapv:UnspecifiedMatching MONDO:0007221 brachydactyly type C skos:exactMatch OMIM:113100 brachydactyly, type c semapv:UnspecifiedMatching MONDO:0007221 brachydactyly type C skos:exactMatch Orphanet:93384 Brachydactyly type C semapv:UnspecifiedMatching MONDO:0007221 brachydactyly type C skos:exactMatch UMLS:C1862103 semapv:UnspecifiedMatching MONDO:0007221 brachydactyly type C skos:exactMatch icd11.foundation:956707061 Brachydactyly type C semapv:UnspecifiedMatching MONDO:0007221 brachydactyly type C skos:exactMatch mesh:C537093 semapv:UnspecifiedMatching MONDO:0007222 brachydactyly type D skos:exactMatch DOID:0110971 brachydactyly type D semapv:UnspecifiedMatching MONDO:0007222 brachydactyly type D skos:exactMatch MEDGEN:66313 semapv:UnspecifiedMatching MONDO:0007222 brachydactyly type D skos:exactMatch OMIM:113200 brachydactyly, type d semapv:UnspecifiedMatching MONDO:0007222 brachydactyly type D skos:exactMatch UMLS:C0220664 semapv:UnspecifiedMatching MONDO:0007222 brachydactyly type D skos:exactMatch icd11.foundation:642882691 Brachydactyly type D semapv:UnspecifiedMatching MONDO:0007222 brachydactyly type D skos:exactMatch mesh:C562420 semapv:UnspecifiedMatching MONDO:0007223 brachydactyly type E1 skos:exactMatch DOID:0110972 brachydactyly type E1 semapv:UnspecifiedMatching MONDO:0007223 brachydactyly type E1 skos:exactMatch MEDGEN:396291 semapv:UnspecifiedMatching MONDO:0007223 brachydactyly type E1 skos:exactMatch OMIM:113300 brachydactyly, type e1 semapv:UnspecifiedMatching MONDO:0007223 brachydactyly type E1 skos:exactMatch UMLS:C1862102 semapv:UnspecifiedMatching MONDO:0007223 brachydactyly type E1 skos:exactMatch mesh:C566194 semapv:UnspecifiedMatching MONDO:0007224 brachydactyly, type E, with atrial septal defect, type 2 skos:exactMatch MEDGEN:354662 semapv:UnspecifiedMatching MONDO:0007224 brachydactyly, type E, with atrial septal defect, type 2 skos:exactMatch OMIM:113301 brachydactyly, type e, with atrial septal defect, type 2 semapv:UnspecifiedMatching MONDO:0007224 brachydactyly, type E, with atrial septal defect, type 2 skos:exactMatch UMLS:C1862101 semapv:UnspecifiedMatching MONDO:0007224 brachydactyly, type E, with atrial septal defect, type 2 skos:exactMatch mesh:C566193 semapv:UnspecifiedMatching MONDO:0007225 fibular aplasia-ectrodactyly syndrome skos:exactMatch MEDGEN:396290 semapv:UnspecifiedMatching MONDO:0007225 fibular aplasia-ectrodactyly syndrome skos:exactMatch OMIM:113310 brachydactyly-ectrodactyly with fibular aplasia or hypoplasia semapv:UnspecifiedMatching MONDO:0007225 fibular aplasia-ectrodactyly syndrome skos:exactMatch Orphanet:1118 Fibular aplasia-ectrodactyly syndrome semapv:UnspecifiedMatching MONDO:0007225 fibular aplasia-ectrodactyly syndrome skos:exactMatch UMLS:C1862100 semapv:UnspecifiedMatching MONDO:0007225 fibular aplasia-ectrodactyly syndrome skos:exactMatch mesh:C537930 semapv:UnspecifiedMatching MONDO:0007226 brachydactyly-nystagmus-cerebellar ataxia syndrome skos:exactMatch MEDGEN:350589 semapv:UnspecifiedMatching MONDO:0007226 brachydactyly-nystagmus-cerebellar ataxia syndrome skos:exactMatch OMIM:113400 brachydactyly-nystagmus-cerebellar ataxia semapv:UnspecifiedMatching MONDO:0007226 brachydactyly-nystagmus-cerebellar ataxia syndrome skos:exactMatch Orphanet:1246 Brachydactyly-nystagmus-cerebellar ataxia syndrome semapv:UnspecifiedMatching MONDO:0007226 brachydactyly-nystagmus-cerebellar ataxia syndrome skos:exactMatch SCTID:205828009 semapv:UnspecifiedMatching MONDO:0007226 brachydactyly-nystagmus-cerebellar ataxia syndrome skos:exactMatch UMLS:C1862099 semapv:UnspecifiedMatching MONDO:0007226 brachydactyly-nystagmus-cerebellar ataxia syndrome skos:exactMatch mesh:C566192 semapv:UnspecifiedMatching MONDO:0007227 Sillence syndrome skos:exactMatch MEDGEN:354659 semapv:UnspecifiedMatching MONDO:0007227 Sillence syndrome skos:exactMatch OMIM:113450 brachydactyly-distal symphalangism syndrome semapv:UnspecifiedMatching MONDO:0007227 Sillence syndrome skos:exactMatch Orphanet:3168 Sillence syndrome semapv:UnspecifiedMatching MONDO:0007227 Sillence syndrome skos:exactMatch SCTID:732956000 semapv:UnspecifiedMatching MONDO:0007227 Sillence syndrome skos:exactMatch UMLS:C1862092 semapv:UnspecifiedMatching MONDO:0007227 Sillence syndrome skos:exactMatch mesh:C537338 semapv:UnspecifiedMatching MONDO:0007228 brachymesomelia-renal syndrome skos:exactMatch MEDGEN:350586 semapv:UnspecifiedMatching MONDO:0007228 brachymesomelia-renal syndrome skos:exactMatch OMIM:113470 brachymesomelia-renal syndrome semapv:UnspecifiedMatching MONDO:0007228 brachymesomelia-renal syndrome skos:exactMatch UMLS:C1862084 semapv:UnspecifiedMatching MONDO:0007228 brachymesomelia-renal syndrome skos:exactMatch mesh:C537096 semapv:UnspecifiedMatching MONDO:0007229 Brachymetatarsus 4 skos:exactMatch MEDGEN:396286 semapv:UnspecifiedMatching MONDO:0007229 Brachymetatarsus 4 skos:exactMatch OMIM:113475 brachymetatarsus 4 semapv:UnspecifiedMatching MONDO:0007229 Brachymetatarsus 4 skos:exactMatch UMLS:C1862083 semapv:UnspecifiedMatching MONDO:0007230 Brachymorphism-onychodysplasia-dysphalangism syndrome skos:exactMatch MEDGEN:350585 semapv:UnspecifiedMatching MONDO:0007230 Brachymorphism-onychodysplasia-dysphalangism syndrome skos:exactMatch OMIM:113477 brachymorphism-onychodysplasia-dysphalangism syndrome semapv:UnspecifiedMatching MONDO:0007230 Brachymorphism-onychodysplasia-dysphalangism syndrome skos:exactMatch Orphanet:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome semapv:UnspecifiedMatching MONDO:0007230 Brachymorphism-onychodysplasia-dysphalangism syndrome skos:exactMatch SCTID:720573009 semapv:UnspecifiedMatching MONDO:0007230 Brachymorphism-onychodysplasia-dysphalangism syndrome skos:exactMatch UMLS:C1862082 semapv:UnspecifiedMatching MONDO:0007230 Brachymorphism-onychodysplasia-dysphalangism syndrome skos:exactMatch mesh:C536242 semapv:UnspecifiedMatching MONDO:0007231 brachytelephalangy-dysmorphism-Kallmann syndrome skos:exactMatch MEDGEN:444052 semapv:UnspecifiedMatching MONDO:0007231 brachytelephalangy-dysmorphism-Kallmann syndrome skos:exactMatch OMIM:113480 brachytelephalangy with characteristic facies and kallmann syndrome semapv:UnspecifiedMatching MONDO:0007231 brachytelephalangy-dysmorphism-Kallmann syndrome skos:exactMatch Orphanet:1295 Brachytelephalangy-dysmorphism-Kallmann syndrome semapv:UnspecifiedMatching MONDO:0007231 brachytelephalangy-dysmorphism-Kallmann syndrome skos:exactMatch UMLS:C2931421 semapv:UnspecifiedMatching MONDO:0007231 brachytelephalangy-dysmorphism-Kallmann syndrome skos:exactMatch mesh:C537101 semapv:UnspecifiedMatching MONDO:0007232 autosomal dominant brachyolmia skos:exactMatch MEDGEN:96583 semapv:UnspecifiedMatching MONDO:0007232 autosomal dominant brachyolmia skos:exactMatch OMIM:113500 brachyolmia type 3 semapv:UnspecifiedMatching MONDO:0007232 autosomal dominant brachyolmia skos:exactMatch Orphanet:93304 Autosomal dominant brachyolmia semapv:UnspecifiedMatching MONDO:0007232 autosomal dominant brachyolmia skos:exactMatch SCTID:717264003 semapv:UnspecifiedMatching MONDO:0007232 autosomal dominant brachyolmia skos:exactMatch UMLS:C0432227 semapv:UnspecifiedMatching MONDO:0007233 second branchial cleft anomaly skos:exactMatch MEDGEN:840602 semapv:UnspecifiedMatching MONDO:0007233 second branchial cleft anomaly skos:exactMatch NCIT:C104813 Branchial Cleft Remnant semapv:UnspecifiedMatching MONDO:0007233 second branchial cleft anomaly skos:exactMatch OMIM:113600 branchial cleft anomalies semapv:UnspecifiedMatching MONDO:0007233 second branchial cleft anomaly skos:exactMatch Orphanet:141022 Second branchial cleft anomaly semapv:UnspecifiedMatching MONDO:0007233 second branchial cleft anomaly skos:exactMatch SCTID:73381000119100 semapv:UnspecifiedMatching MONDO:0007233 second branchial cleft anomaly skos:exactMatch UMLS:C3874315 semapv:UnspecifiedMatching MONDO:0007234 branchial myoclonus with spastic paraparesis and cerebellar ataxia skos:exactMatch MEDGEN:349424 semapv:UnspecifiedMatching MONDO:0007234 branchial myoclonus with spastic paraparesis and cerebellar ataxia skos:exactMatch OMIM:113610 branchial myoclonus with spastic paraparesis and cerebellar ataxia semapv:UnspecifiedMatching MONDO:0007234 branchial myoclonus with spastic paraparesis and cerebellar ataxia skos:exactMatch UMLS:C1862071 semapv:UnspecifiedMatching MONDO:0007234 branchial myoclonus with spastic paraparesis and cerebellar ataxia skos:exactMatch mesh:C566188 semapv:UnspecifiedMatching MONDO:0007235 branchiooculofacial syndrome skos:exactMatch DOID:0050691 branchiooculofacial syndrome semapv:UnspecifiedMatching MONDO:0007235 branchiooculofacial syndrome skos:exactMatch MEDGEN:91261 semapv:UnspecifiedMatching MONDO:0007235 branchiooculofacial syndrome skos:exactMatch OMIM:113620 branchiooculofacial syndrome semapv:UnspecifiedMatching MONDO:0007235 branchiooculofacial syndrome skos:exactMatch Orphanet:1297 Branchio-oculo-facial syndrome semapv:UnspecifiedMatching MONDO:0007235 branchiooculofacial syndrome skos:exactMatch SCTID:449821007 semapv:UnspecifiedMatching MONDO:0007235 branchiooculofacial syndrome skos:exactMatch UMLS:C0376524 semapv:UnspecifiedMatching MONDO:0007236 branchiootorenal syndrome 1 skos:exactMatch DOID:0111423 branchiootorenal syndrome 1 semapv:UnspecifiedMatching MONDO:0007236 branchiootorenal syndrome 1 skos:exactMatch MEDGEN:1632634 semapv:UnspecifiedMatching MONDO:0007236 branchiootorenal syndrome 1 skos:exactMatch OMIM:113650 branchiootorenal syndrome 1 semapv:UnspecifiedMatching MONDO:0007236 branchiootorenal syndrome 1 skos:exactMatch UMLS:C4551702 semapv:UnspecifiedMatching MONDO:0007237 familial juvenile hypertrophy of the breast skos:exactMatch MEDGEN:140798 semapv:UnspecifiedMatching MONDO:0007237 familial juvenile hypertrophy of the breast skos:exactMatch OMIM:113670 hypertrophy of the breast, juvenile semapv:UnspecifiedMatching MONDO:0007237 familial juvenile hypertrophy of the breast skos:exactMatch Orphanet:180176 Familial juvenile hypertrophy of the breast semapv:UnspecifiedMatching MONDO:0007237 familial juvenile hypertrophy of the breast skos:exactMatch UMLS:C0405471 semapv:UnspecifiedMatching MONDO:0007237 familial juvenile hypertrophy of the breast skos:exactMatch mesh:C536821 semapv:UnspecifiedMatching MONDO:0007238 amastia skos:exactMatch NCIT:C118459 Amastia semapv:UnspecifiedMatching MONDO:0007238 amastia skos:exactMatch SCTID:75474006 semapv:UnspecifiedMatching MONDO:0007238 amastia skos:exactMatch mesh:C535565 semapv:UnspecifiedMatching MONDO:0007239 epidermolytic ichthyosis skos:exactMatch DOID:4603 epidermolytic hyperkeratosis semapv:UnspecifiedMatching MONDO:0007239 epidermolytic ichthyosis skos:exactMatch MEDGEN:38179 semapv:UnspecifiedMatching MONDO:0007239 epidermolytic ichthyosis skos:exactMatch OMIMPS:113800 Epidermolytic hyperkeratosis semapv:UnspecifiedMatching MONDO:0007239 epidermolytic ichthyosis skos:exactMatch SCTID:254167000 semapv:UnspecifiedMatching MONDO:0007239 epidermolytic ichthyosis skos:exactMatch UMLS:C0079153 semapv:UnspecifiedMatching MONDO:0007239 epidermolytic ichthyosis skos:exactMatch icd11.foundation:1183730789 Epidermolytic ichthyosis semapv:UnspecifiedMatching MONDO:0007239 epidermolytic ichthyosis skos:exactMatch mesh:D017488 semapv:UnspecifiedMatching MONDO:0007240 progressive familial heart block, type 1A skos:exactMatch DOID:0111074 progressive familial heart block type IA semapv:UnspecifiedMatching MONDO:0007240 progressive familial heart block, type 1A skos:exactMatch MEDGEN:406301 semapv:UnspecifiedMatching MONDO:0007240 progressive familial heart block, type 1A skos:exactMatch NCIT:C126651 Progressive Familial Heart Block, Type Ia semapv:UnspecifiedMatching MONDO:0007240 progressive familial heart block, type 1A skos:exactMatch OMIM:113900 progressive familial heart block, type 1a semapv:UnspecifiedMatching MONDO:0007240 progressive familial heart block, type 1A skos:exactMatch UMLS:C1879286 semapv:UnspecifiedMatching MONDO:0007240 progressive familial heart block, type 1A skos:exactMatch mesh:D002037 semapv:UnspecifiedMatching MONDO:0007241 bundle branch block, familial isolated complete right skos:exactMatch MEDGEN:83311 semapv:UnspecifiedMatching MONDO:0007241 bundle branch block, familial isolated complete right skos:exactMatch OMIM:113950 bundle branch block, familial isolated complete right semapv:UnspecifiedMatching MONDO:0007241 bundle branch block, familial isolated complete right skos:exactMatch SCTID:233919006 semapv:UnspecifiedMatching MONDO:0007241 bundle branch block, familial isolated complete right skos:exactMatch UMLS:C0340504 semapv:UnspecifiedMatching MONDO:0007241 bundle branch block, familial isolated complete right skos:exactMatch mesh:C562759 semapv:UnspecifiedMatching MONDO:0007242 butyrylesterase 1 skos:exactMatch MEDGEN:396267 semapv:UnspecifiedMatching MONDO:0007242 butyrylesterase 1 skos:exactMatch OMIM:113960 butyrylesterase 1 semapv:UnspecifiedMatching MONDO:0007242 butyrylesterase 1 skos:exactMatch UMLS:C1861981 semapv:UnspecifiedMatching MONDO:0007243 Burkitt lymphoma skos:exactMatch DOID:8584 Burkitt lymphoma semapv:UnspecifiedMatching MONDO:0007243 Burkitt lymphoma skos:exactMatch EFO:0000309 semapv:UnspecifiedMatching MONDO:0007243 Burkitt lymphoma skos:exactMatch ICD10CM:C83.7 Burkitt lymphoma semapv:UnspecifiedMatching MONDO:0007243 Burkitt lymphoma skos:exactMatch MEDGEN:2377 semapv:UnspecifiedMatching MONDO:0007243 Burkitt lymphoma skos:exactMatch NCIT:C2912 Burkitt Lymphoma semapv:UnspecifiedMatching MONDO:0007243 Burkitt lymphoma skos:exactMatch OMIM:113970 burkitt lymphoma semapv:UnspecifiedMatching MONDO:0007243 Burkitt lymphoma skos:exactMatch Orphanet:543 Burkitt lymphoma semapv:UnspecifiedMatching MONDO:0007243 Burkitt lymphoma skos:exactMatch SCTID:118617000 semapv:UnspecifiedMatching MONDO:0007243 Burkitt lymphoma skos:exactMatch UMLS:C0006413 semapv:UnspecifiedMatching MONDO:0007243 Burkitt lymphoma skos:exactMatch icd11.foundation:2100138081 Burkitt lymphoma including Burkitt leukaemia semapv:UnspecifiedMatching MONDO:0007243 Burkitt lymphoma skos:exactMatch mesh:D002051 semapv:UnspecifiedMatching MONDO:0007244 Caffey disease skos:exactMatch DOID:4257 Caffey disease semapv:UnspecifiedMatching MONDO:0007244 Caffey disease skos:exactMatch MEDGEN:43781 semapv:UnspecifiedMatching MONDO:0007244 Caffey disease skos:exactMatch NCIT:C118423 Infantile Cortical Hyperostosis semapv:UnspecifiedMatching MONDO:0007244 Caffey disease skos:exactMatch OMIM:114000 caffey disease semapv:UnspecifiedMatching MONDO:0007244 Caffey disease skos:exactMatch Orphanet:1310 Caffey disease semapv:UnspecifiedMatching MONDO:0007244 Caffey disease skos:exactMatch SCTID:24752008 semapv:UnspecifiedMatching MONDO:0007244 Caffey disease skos:exactMatch UMLS:C0020497 semapv:UnspecifiedMatching MONDO:0007244 Caffey disease skos:exactMatch mesh:D006958 semapv:UnspecifiedMatching MONDO:0007245 cafe au lait spots, multiple skos:exactMatch MEDGEN:396266 semapv:UnspecifiedMatching MONDO:0007245 cafe au lait spots, multiple skos:exactMatch OMIM:114030 cafe-au-lait spots, multiple semapv:UnspecifiedMatching MONDO:0007245 cafe au lait spots, multiple skos:exactMatch Orphanet:2678 Familial isolated café-au-lait macules semapv:UnspecifiedMatching MONDO:0007245 cafe au lait spots, multiple skos:exactMatch UMLS:C1861975 semapv:UnspecifiedMatching MONDO:0007245 cafe au lait spots, multiple skos:exactMatch mesh:C537421 semapv:UnspecifiedMatching MONDO:0007246 calcific aortic disease with immunologic abnormalities, familial skos:exactMatch MEDGEN:354631 semapv:UnspecifiedMatching MONDO:0007246 calcific aortic disease with immunologic abnormalities, familial skos:exactMatch OMIM:114065 calcific aortic disease with immunologic abnormalities, familial semapv:UnspecifiedMatching MONDO:0007246 calcific aortic disease with immunologic abnormalities, familial skos:exactMatch UMLS:C1861974 semapv:UnspecifiedMatching MONDO:0007246 calcific aortic disease with immunologic abnormalities, familial skos:exactMatch mesh:C566182 semapv:UnspecifiedMatching MONDO:0007247 basal ganglia calcification, idiopathic, childhood-onset skos:exactMatch MEDGEN:396262 semapv:UnspecifiedMatching MONDO:0007247 basal ganglia calcification, idiopathic, childhood-onset skos:exactMatch OMIM:114100 basal ganglia calcification, idiopathic, childhood-onset semapv:UnspecifiedMatching MONDO:0007247 basal ganglia calcification, idiopathic, childhood-onset skos:exactMatch UMLS:C1861967 semapv:UnspecifiedMatching MONDO:0007247 basal ganglia calcification, idiopathic, childhood-onset skos:exactMatch mesh:C536276 semapv:UnspecifiedMatching MONDO:0007248 hereditary painful callosities skos:exactMatch MEDGEN:349400 semapv:UnspecifiedMatching MONDO:0007248 hereditary painful callosities skos:exactMatch OMIM:114140 callosities, hereditary painful semapv:UnspecifiedMatching MONDO:0007248 hereditary painful callosities skos:exactMatch Orphanet:79141 Hereditary painful callosities semapv:UnspecifiedMatching MONDO:0007248 hereditary painful callosities skos:exactMatch UMLS:C1861964 semapv:UnspecifiedMatching MONDO:0007248 hereditary painful callosities skos:exactMatch mesh:C566180 semapv:UnspecifiedMatching MONDO:0007249 camptobrachydactyly skos:exactMatch MEDGEN:349399 semapv:UnspecifiedMatching MONDO:0007249 camptobrachydactyly skos:exactMatch OMIM:114150 camptobrachydactyly semapv:UnspecifiedMatching MONDO:0007249 camptobrachydactyly skos:exactMatch Orphanet:1319 Camptobrachydactyly semapv:UnspecifiedMatching MONDO:0007249 camptobrachydactyly skos:exactMatch SCTID:733045005 semapv:UnspecifiedMatching MONDO:0007249 camptobrachydactyly skos:exactMatch UMLS:C1861963 semapv:UnspecifiedMatching MONDO:0007249 camptobrachydactyly skos:exactMatch mesh:C537967 semapv:UnspecifiedMatching MONDO:0007250 camptodactyly of fingers skos:exactMatch MEDGEN:416550 semapv:UnspecifiedMatching MONDO:0007250 camptodactyly of fingers skos:exactMatch OMIM:114200 camptodactyly 1 semapv:UnspecifiedMatching MONDO:0007250 camptodactyly of fingers skos:exactMatch Orphanet:295016 Camptodactyly of fingers semapv:UnspecifiedMatching MONDO:0007250 camptodactyly of fingers skos:exactMatch SCTID:29271008 semapv:UnspecifiedMatching MONDO:0007250 camptodactyly of fingers skos:exactMatch UMLS:C2751430 semapv:UnspecifiedMatching MONDO:0007250 camptodactyly of fingers skos:exactMatch icd11.foundation:1449348512 Camptodactyly of fingers semapv:UnspecifiedMatching MONDO:0007250 camptodactyly of fingers skos:exactMatch mesh:C536852 semapv:UnspecifiedMatching MONDO:0007250 camptodactyly of fingers skos:exactMatch mesh:C567780 semapv:UnspecifiedMatching MONDO:0007251 campomelic dysplasia skos:exactMatch DOID:0050463 campomelic dysplasia semapv:UnspecifiedMatching MONDO:0007251 campomelic dysplasia skos:exactMatch MEDGEN:354620 semapv:UnspecifiedMatching MONDO:0007251 campomelic dysplasia skos:exactMatch NCIT:C84609 Campomelic Dysplasia semapv:UnspecifiedMatching MONDO:0007251 campomelic dysplasia skos:exactMatch OMIM:114290 campomelic dysplasia semapv:UnspecifiedMatching MONDO:0007251 campomelic dysplasia skos:exactMatch Orphanet:140 Campomelic dysplasia semapv:UnspecifiedMatching MONDO:0007251 campomelic dysplasia skos:exactMatch SCTID:74928006 semapv:UnspecifiedMatching MONDO:0007251 campomelic dysplasia skos:exactMatch UMLS:C1861922 semapv:UnspecifiedMatching MONDO:0007251 campomelic dysplasia skos:exactMatch icd11.foundation:913761638 Campomelic dysplasia semapv:UnspecifiedMatching MONDO:0007251 campomelic dysplasia skos:exactMatch mesh:D055036 semapv:UnspecifiedMatching MONDO:0007252 Gordon syndrome skos:exactMatch DOID:0111607 distal arthrogryposis type 3 semapv:UnspecifiedMatching MONDO:0007252 Gordon syndrome skos:exactMatch MEDGEN:66314 semapv:UnspecifiedMatching MONDO:0007252 Gordon syndrome skos:exactMatch OMIM:114300 arthrogryposis, distal, type 3 semapv:UnspecifiedMatching MONDO:0007252 Gordon syndrome skos:exactMatch Orphanet:376 Gordon syndrome semapv:UnspecifiedMatching MONDO:0007252 Gordon syndrome skos:exactMatch SCTID:237850008 semapv:UnspecifiedMatching MONDO:0007252 Gordon syndrome skos:exactMatch UMLS:C0220666 semapv:UnspecifiedMatching MONDO:0007252 Gordon syndrome skos:exactMatch mesh:C537288 semapv:UnspecifiedMatching MONDO:0007253 cancer, familial, with in vitro Radioresistance skos:exactMatch MEDGEN:396248 semapv:UnspecifiedMatching MONDO:0007253 cancer, familial, with in vitro Radioresistance skos:exactMatch OMIM:114450 cancer, familial, with 1n vitro radioresistance semapv:UnspecifiedMatching MONDO:0007253 cancer, familial, with in vitro Radioresistance skos:exactMatch UMLS:C1861915 semapv:UnspecifiedMatching MONDO:0007253 cancer, familial, with in vitro Radioresistance skos:exactMatch mesh:C566179 semapv:UnspecifiedMatching MONDO:0007254 breast cancer skos:exactMatch DOID:1612 breast cancer semapv:UnspecifiedMatching MONDO:0007254 breast cancer skos:exactMatch ICD10CM:C50 Malignant neoplasm of breast semapv:UnspecifiedMatching MONDO:0007254 breast cancer skos:exactMatch MEDGEN:651 semapv:UnspecifiedMatching MONDO:0007254 breast cancer skos:exactMatch NCIT:C9335 Malignant Breast Neoplasm semapv:UnspecifiedMatching MONDO:0007254 breast cancer skos:exactMatch SCTID:254837009 semapv:UnspecifiedMatching MONDO:0007254 breast cancer skos:exactMatch UMLS:C0006142 semapv:UnspecifiedMatching MONDO:0007254 breast cancer skos:exactMatch icd11.foundation:1047754165 Malignant neoplasms of breast semapv:UnspecifiedMatching MONDO:0007256 hepatocellular carcinoma skos:exactMatch DOID:684 hepatocellular carcinoma semapv:UnspecifiedMatching MONDO:0007256 hepatocellular carcinoma skos:exactMatch DOID:686 liver carcinoma semapv:UnspecifiedMatching MONDO:0007256 hepatocellular carcinoma skos:exactMatch EFO:0000182 semapv:UnspecifiedMatching MONDO:0007256 hepatocellular carcinoma skos:exactMatch ICD10CM:C22.0 Liver cell carcinoma semapv:UnspecifiedMatching MONDO:0007256 hepatocellular carcinoma skos:exactMatch MEDGEN:389187 semapv:UnspecifiedMatching MONDO:0007256 hepatocellular carcinoma skos:exactMatch NCIT:C3099 Hepatocellular Carcinoma semapv:UnspecifiedMatching MONDO:0007256 hepatocellular carcinoma skos:exactMatch OMIM:114550 hepatocellular carcinoma semapv:UnspecifiedMatching MONDO:0007256 hepatocellular carcinoma skos:exactMatch Orphanet:88673 Hepatocellular carcinoma semapv:UnspecifiedMatching MONDO:0007256 hepatocellular carcinoma skos:exactMatch UMLS:C2239176 semapv:UnspecifiedMatching MONDO:0007256 hepatocellular carcinoma skos:exactMatch icd11.foundation:1294035808 Hepatocellular carcinoma of liver semapv:UnspecifiedMatching MONDO:0007256 hepatocellular carcinoma skos:exactMatch mesh:D006528 semapv:UnspecifiedMatching MONDO:0007257 candidiasis, familial, 1 skos:exactMatch MEDGEN:414015 semapv:UnspecifiedMatching MONDO:0007257 candidiasis, familial, 1 skos:exactMatch OMIM:114580 candidiasis, familial, 1 semapv:UnspecifiedMatching MONDO:0007257 candidiasis, familial, 1 skos:exactMatch UMLS:C2751429 semapv:UnspecifiedMatching MONDO:0007257 candidiasis, familial, 1 skos:exactMatch mesh:C567779 semapv:UnspecifiedMatching MONDO:0007258 canine teeth, absence of upper permanent skos:exactMatch MEDGEN:396244 semapv:UnspecifiedMatching MONDO:0007258 canine teeth, absence of upper permanent skos:exactMatch OMIM:114600 canine teeth, absence of upper permanent semapv:UnspecifiedMatching MONDO:0007258 canine teeth, absence of upper permanent skos:exactMatch UMLS:C1861899 semapv:UnspecifiedMatching MONDO:0007259 craniofaciofrontodigital syndrome skos:exactMatch MEDGEN:393947 semapv:UnspecifiedMatching MONDO:0007259 craniofaciofrontodigital syndrome skos:exactMatch OMIM:114620 craniofaciofrontodigital syndrome semapv:UnspecifiedMatching MONDO:0007259 craniofaciofrontodigital syndrome skos:exactMatch Orphanet:363705 Craniofaciofrontodigital syndrome semapv:UnspecifiedMatching MONDO:0007259 craniofaciofrontodigital syndrome skos:exactMatch SCTID:763320005 semapv:UnspecifiedMatching MONDO:0007259 craniofaciofrontodigital syndrome skos:exactMatch UMLS:C2676032 semapv:UnspecifiedMatching MONDO:0007259 craniofaciofrontodigital syndrome skos:exactMatch mesh:C567298 semapv:UnspecifiedMatching MONDO:0007260 Car factor deficiency skos:exactMatch MEDGEN:354615 semapv:UnspecifiedMatching MONDO:0007260 Car factor deficiency skos:exactMatch OMIM:114650 car factor deficiency semapv:UnspecifiedMatching MONDO:0007260 Car factor deficiency skos:exactMatch UMLS:C1861898 semapv:UnspecifiedMatching MONDO:0007260 Car factor deficiency skos:exactMatch mesh:C566176 semapv:UnspecifiedMatching MONDO:0007261 Carabelli anomaly of maxillary molar teeth skos:exactMatch MEDGEN:396243 semapv:UnspecifiedMatching MONDO:0007261 Carabelli anomaly of maxillary molar teeth skos:exactMatch OMIM:114700 carabelli anomaly of maxillary molar teeth semapv:UnspecifiedMatching MONDO:0007261 Carabelli anomaly of maxillary molar teeth skos:exactMatch UMLS:C1861897 semapv:UnspecifiedMatching MONDO:0007261 Carabelli anomaly of maxillary molar teeth skos:exactMatch mesh:C566175 semapv:UnspecifiedMatching MONDO:0007263 cardiac rhythm disease skos:exactMatch MEDGEN:2039 semapv:UnspecifiedMatching MONDO:0007263 cardiac rhythm disease skos:exactMatch NCIT:C2881 Arrhythmia semapv:UnspecifiedMatching MONDO:0007263 cardiac rhythm disease skos:exactMatch SCTID:698247007 semapv:UnspecifiedMatching MONDO:0007263 cardiac rhythm disease skos:exactMatch UMLS:C0003811 semapv:UnspecifiedMatching MONDO:0007264 obsolete sudden cardiac death skos:exactMatch SCTID:95281009 semapv:UnspecifiedMatching MONDO:0007265 cardiofaciocutaneous syndrome 1 skos:exactMatch DOID:0111460 cardiofaciocutaneous syndrome 1 semapv:UnspecifiedMatching MONDO:0007265 cardiofaciocutaneous syndrome 1 skos:exactMatch OMIM:115150 cardiofaciocutaneous syndrome 1 semapv:UnspecifiedMatching MONDO:0007266 hypertrophic cardiomyopathy 2 skos:exactMatch DOID:0110308 hypertrophic cardiomyopathy 2 semapv:UnspecifiedMatching MONDO:0007266 hypertrophic cardiomyopathy 2 skos:exactMatch MEDGEN:349383 semapv:UnspecifiedMatching MONDO:0007266 hypertrophic cardiomyopathy 2 skos:exactMatch NCIT:C142892 Familial Hypertrophic Cardiomyopathy Type 2 semapv:UnspecifiedMatching MONDO:0007266 hypertrophic cardiomyopathy 2 skos:exactMatch OMIM:115195 cardiomyopathy, familial hypertrophic, 2 semapv:UnspecifiedMatching MONDO:0007266 hypertrophic cardiomyopathy 2 skos:exactMatch UMLS:C1861864 semapv:UnspecifiedMatching MONDO:0007266 hypertrophic cardiomyopathy 2 skos:exactMatch mesh:C566171 semapv:UnspecifiedMatching MONDO:0007267 hypertrophic cardiomyopathy 3 skos:exactMatch DOID:0110309 hypertrophic cardiomyopathy 3 semapv:UnspecifiedMatching MONDO:0007267 hypertrophic cardiomyopathy 3 skos:exactMatch MEDGEN:349382 semapv:UnspecifiedMatching MONDO:0007267 hypertrophic cardiomyopathy 3 skos:exactMatch OMIM:115196 cardiomyopathy, familial hypertrophic, 3 semapv:UnspecifiedMatching MONDO:0007267 hypertrophic cardiomyopathy 3 skos:exactMatch UMLS:C1861863 semapv:UnspecifiedMatching MONDO:0007267 hypertrophic cardiomyopathy 3 skos:exactMatch mesh:C566170 semapv:UnspecifiedMatching MONDO:0007268 hypertrophic cardiomyopathy 4 skos:exactMatch DOID:0110310 hypertrophic cardiomyopathy 4 semapv:UnspecifiedMatching MONDO:0007268 hypertrophic cardiomyopathy 4 skos:exactMatch MEDGEN:350526 semapv:UnspecifiedMatching MONDO:0007268 hypertrophic cardiomyopathy 4 skos:exactMatch NCIT:C133725 Familial Hypertrophic Cardiomyopathy Type 4 semapv:UnspecifiedMatching MONDO:0007268 hypertrophic cardiomyopathy 4 skos:exactMatch OMIM:115197 cardiomyopathy, familial hypertrophic, 4 semapv:UnspecifiedMatching MONDO:0007268 hypertrophic cardiomyopathy 4 skos:exactMatch UMLS:C1861862 semapv:UnspecifiedMatching MONDO:0007268 hypertrophic cardiomyopathy 4 skos:exactMatch mesh:C566169 semapv:UnspecifiedMatching MONDO:0007269 dilated cardiomyopathy 1A skos:exactMatch DOID:0110425 dilated cardiomyopathy 1A semapv:UnspecifiedMatching MONDO:0007269 dilated cardiomyopathy 1A skos:exactMatch MEDGEN:1875382 semapv:UnspecifiedMatching MONDO:0007269 dilated cardiomyopathy 1A skos:exactMatch OMIM:115200 cardiomyopathy, dilated, 1a semapv:UnspecifiedMatching MONDO:0007269 dilated cardiomyopathy 1A skos:exactMatch Orphanet:300751 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation semapv:UnspecifiedMatching MONDO:0007269 dilated cardiomyopathy 1A skos:exactMatch SCTID:766883006 semapv:UnspecifiedMatching MONDO:0007269 dilated cardiomyopathy 1A skos:exactMatch UMLS:C5979868 semapv:UnspecifiedMatching MONDO:0007269 dilated cardiomyopathy 1A skos:exactMatch icd11.foundation:884022112 Dilated cardiomyopathy due to laminopathy semapv:UnspecifiedMatching MONDO:0007270 cardiomyopathy, familial restrictive, 1 skos:exactMatch DOID:0111425 familial restrictive cardiomyopathy 1 semapv:UnspecifiedMatching MONDO:0007270 cardiomyopathy, familial restrictive, 1 skos:exactMatch MEDGEN:396236 semapv:UnspecifiedMatching MONDO:0007270 cardiomyopathy, familial restrictive, 1 skos:exactMatch OMIM:115210 cardiomyopathy, familial restrictive, 1 semapv:UnspecifiedMatching MONDO:0007270 cardiomyopathy, familial restrictive, 1 skos:exactMatch UMLS:C1861861 semapv:UnspecifiedMatching MONDO:0007270 cardiomyopathy, familial restrictive, 1 skos:exactMatch mesh:C566168 semapv:UnspecifiedMatching MONDO:0007271 familial cutaneous collagenoma skos:exactMatch MEDGEN:96073 semapv:UnspecifiedMatching MONDO:0007271 familial cutaneous collagenoma skos:exactMatch OMIM:115250 collagenoma, familial cutaneous semapv:UnspecifiedMatching MONDO:0007271 familial cutaneous collagenoma skos:exactMatch Orphanet:53296 Familial cutaneous collagenoma semapv:UnspecifiedMatching MONDO:0007271 familial cutaneous collagenoma skos:exactMatch SCTID:239139000 semapv:UnspecifiedMatching MONDO:0007271 familial cutaneous collagenoma skos:exactMatch UMLS:C0406817 semapv:UnspecifiedMatching MONDO:0007271 familial cutaneous collagenoma skos:exactMatch icd11.foundation:982220551 Familial cutaneous collagenoma semapv:UnspecifiedMatching MONDO:0007271 familial cutaneous collagenoma skos:exactMatch mesh:C562925 semapv:UnspecifiedMatching MONDO:0007272 hereditary hypercarotenemia and vitamin A deficiency skos:exactMatch MEDGEN:393944 semapv:UnspecifiedMatching MONDO:0007272 hereditary hypercarotenemia and vitamin A deficiency skos:exactMatch OMIM:115300 hypercarotenemia and vitamin a deficiency, autosomal dominant semapv:UnspecifiedMatching MONDO:0007272 hereditary hypercarotenemia and vitamin A deficiency skos:exactMatch Orphanet:199285 Hereditary hypercarotenemia and vitamin A deficiency semapv:UnspecifiedMatching MONDO:0007272 hereditary hypercarotenemia and vitamin A deficiency skos:exactMatch SCTID:726079008 semapv:UnspecifiedMatching MONDO:0007272 hereditary hypercarotenemia and vitamin A deficiency skos:exactMatch UMLS:C2676023 semapv:UnspecifiedMatching MONDO:0007272 hereditary hypercarotenemia and vitamin A deficiency skos:exactMatch mesh:C567296 semapv:UnspecifiedMatching MONDO:0007273 pheochromocytoma/paraganglioma syndrome 4 skos:exactMatch DOID:0061219 pheochromocytoma/paraganglioma syndrome 4 semapv:UnspecifiedMatching MONDO:0007273 pheochromocytoma/paraganglioma syndrome 4 skos:exactMatch MEDGEN:349380 semapv:UnspecifiedMatching MONDO:0007273 pheochromocytoma/paraganglioma syndrome 4 skos:exactMatch OMIM:115310 pheochromocytoma/paraganglioma syndrome 4 semapv:UnspecifiedMatching MONDO:0007273 pheochromocytoma/paraganglioma syndrome 4 skos:exactMatch UMLS:C1861848 semapv:UnspecifiedMatching MONDO:0007274 carpal displacement skos:exactMatch MEDGEN:348468 semapv:UnspecifiedMatching MONDO:0007274 carpal displacement skos:exactMatch OMIM:115400 carpal displacement semapv:UnspecifiedMatching MONDO:0007274 carpal displacement skos:exactMatch UMLS:C1861847 semapv:UnspecifiedMatching MONDO:0007275 carpal tunnel syndrome skos:exactMatch DOID:12169 carpal tunnel syndrome semapv:UnspecifiedMatching MONDO:0007275 carpal tunnel syndrome skos:exactMatch EFO:0004143 semapv:UnspecifiedMatching MONDO:0007275 carpal tunnel syndrome skos:exactMatch ICD10CM:G56.0 Carpal tunnel syndrome semapv:UnspecifiedMatching MONDO:0007275 carpal tunnel syndrome skos:exactMatch MEDGEN:2856 semapv:UnspecifiedMatching MONDO:0007275 carpal tunnel syndrome skos:exactMatch NCIT:C34450 Carpal Tunnel Syndrome semapv:UnspecifiedMatching MONDO:0007275 carpal tunnel syndrome skos:exactMatch OMIMPS:115430 Carpal tunnel syndrome semapv:UnspecifiedMatching MONDO:0007275 carpal tunnel syndrome skos:exactMatch SCTID:57406009 semapv:UnspecifiedMatching MONDO:0007275 carpal tunnel syndrome skos:exactMatch UMLS:C0007286 semapv:UnspecifiedMatching MONDO:0007275 carpal tunnel syndrome skos:exactMatch icd11.foundation:1275186848 Carpal tunnel syndrome semapv:UnspecifiedMatching MONDO:0007275 carpal tunnel syndrome skos:exactMatch mesh:D002349 semapv:UnspecifiedMatching MONDO:0007276 cat-eye syndrome skos:exactMatch MEDGEN:120543 semapv:UnspecifiedMatching MONDO:0007276 cat-eye syndrome skos:exactMatch NCIT:C75477 Cat-Eye Syndrome semapv:UnspecifiedMatching MONDO:0007276 cat-eye syndrome skos:exactMatch OMIM:115470 cat eye syndrome semapv:UnspecifiedMatching MONDO:0007276 cat-eye syndrome skos:exactMatch Orphanet:195 Cat-eye syndrome semapv:UnspecifiedMatching MONDO:0007276 cat-eye syndrome skos:exactMatch SCTID:26445008 semapv:UnspecifiedMatching MONDO:0007276 cat-eye syndrome skos:exactMatch UMLS:C0265493 semapv:UnspecifiedMatching MONDO:0007276 cat-eye syndrome skos:exactMatch icd11.foundation:1813923633 Cat-eye syndrome semapv:UnspecifiedMatching MONDO:0007276 cat-eye syndrome skos:exactMatch mesh:C535918 semapv:UnspecifiedMatching MONDO:0007277 cataract-aberrant oral frenula-growth delay syndrome skos:exactMatch MEDGEN:350520 semapv:UnspecifiedMatching MONDO:0007277 cataract-aberrant oral frenula-growth delay syndrome skos:exactMatch OMIM:115645 cataract, aberrant oral frenula, and growth retardation semapv:UnspecifiedMatching MONDO:0007277 cataract-aberrant oral frenula-growth delay syndrome skos:exactMatch Orphanet:1373 Cataract-aberrant oral frenula-growth delay syndrome semapv:UnspecifiedMatching MONDO:0007277 cataract-aberrant oral frenula-growth delay syndrome skos:exactMatch SCTID:715988005 semapv:UnspecifiedMatching MONDO:0007277 cataract-aberrant oral frenula-growth delay syndrome skos:exactMatch UMLS:C1861835 semapv:UnspecifiedMatching MONDO:0007277 cataract-aberrant oral frenula-growth delay syndrome skos:exactMatch mesh:C536691 semapv:UnspecifiedMatching MONDO:0007278 cataract 32 multiple types skos:exactMatch DOID:0110227 cataract 32 multiple types semapv:UnspecifiedMatching MONDO:0007278 cataract 32 multiple types skos:exactMatch MEDGEN:854634 semapv:UnspecifiedMatching MONDO:0007278 cataract 32 multiple types skos:exactMatch OMIM:115650 cataract 32, multiple types semapv:UnspecifiedMatching MONDO:0007278 cataract 32 multiple types skos:exactMatch UMLS:C3887926 semapv:UnspecifiedMatching MONDO:0007279 cataract 7 skos:exactMatch DOID:0110260 cataract 7 semapv:UnspecifiedMatching MONDO:0007279 cataract 7 skos:exactMatch OMIM:115660 cataract 7 semapv:UnspecifiedMatching MONDO:0007280 cataract 8 multiple types skos:exactMatch DOID:0110228 cataract 8 multiple types semapv:UnspecifiedMatching MONDO:0007280 cataract 8 multiple types skos:exactMatch MEDGEN:396230 semapv:UnspecifiedMatching MONDO:0007280 cataract 8 multiple types skos:exactMatch OMIM:115665 cataract 8, multiple types semapv:UnspecifiedMatching MONDO:0007280 cataract 8 multiple types skos:exactMatch UMLS:C1861833 semapv:UnspecifiedMatching MONDO:0007280 cataract 8 multiple types skos:exactMatch mesh:C538285 semapv:UnspecifiedMatching MONDO:0007281 cataract 4 multiple types skos:exactMatch DOID:0110234 cataract 4 multiple types semapv:UnspecifiedMatching MONDO:0007281 cataract 4 multiple types skos:exactMatch MEDGEN:761925 semapv:UnspecifiedMatching MONDO:0007281 cataract 4 multiple types skos:exactMatch OMIM:115700 cataract 4, multiple types semapv:UnspecifiedMatching MONDO:0007281 cataract 4 multiple types skos:exactMatch UMLS:C3540850 semapv:UnspecifiedMatching MONDO:0007282 cataract 29 skos:exactMatch DOID:0110232 cataract 29 semapv:UnspecifiedMatching MONDO:0007282 cataract 29 skos:exactMatch MEDGEN:811739 semapv:UnspecifiedMatching MONDO:0007282 cataract 29 skos:exactMatch OMIM:115800 cataract 29 semapv:UnspecifiedMatching MONDO:0007282 cataract 29 skos:exactMatch Orphanet:98990 Coralliform cataract semapv:UnspecifiedMatching MONDO:0007282 cataract 29 skos:exactMatch UMLS:C3805409 semapv:UnspecifiedMatching MONDO:0007283 cataract 42 skos:exactMatch DOID:0110237 cataract 42 semapv:UnspecifiedMatching MONDO:0007283 cataract 42 skos:exactMatch MEDGEN:859891 semapv:UnspecifiedMatching MONDO:0007283 cataract 42 skos:exactMatch OMIM:115900 cataract 42 semapv:UnspecifiedMatching MONDO:0007283 cataract 42 skos:exactMatch UMLS:C4011454 semapv:UnspecifiedMatching MONDO:0007284 cataract 20 multiple types skos:exactMatch DOID:0110240 cataract 20 multiple types semapv:UnspecifiedMatching MONDO:0007284 cataract 20 multiple types skos:exactMatch MEDGEN:101117 semapv:UnspecifiedMatching MONDO:0007284 cataract 20 multiple types skos:exactMatch OMIM:116100 cataract 20, multiple types semapv:UnspecifiedMatching MONDO:0007284 cataract 20 multiple types skos:exactMatch UMLS:C0524524 semapv:UnspecifiedMatching MONDO:0007285 cataract 1 multiple types skos:exactMatch DOID:0110231 cataract 1 multiple types semapv:UnspecifiedMatching MONDO:0007285 cataract 1 multiple types skos:exactMatch MEDGEN:349374 semapv:UnspecifiedMatching MONDO:0007285 cataract 1 multiple types skos:exactMatch OMIM:116200 cataract 1, multiple types semapv:UnspecifiedMatching MONDO:0007285 cataract 1 multiple types skos:exactMatch UMLS:C1861828 semapv:UnspecifiedMatching MONDO:0007285 cataract 1 multiple types skos:exactMatch mesh:C566158 semapv:UnspecifiedMatching MONDO:0007286 cataract 30 skos:exactMatch DOID:0110248 cataract 30 semapv:UnspecifiedMatching MONDO:0007286 cataract 30 skos:exactMatch MEDGEN:811741 semapv:UnspecifiedMatching MONDO:0007286 cataract 30 skos:exactMatch OMIM:116300 cataract 30, multiple types semapv:UnspecifiedMatching MONDO:0007286 cataract 30 skos:exactMatch UMLS:C3805411 semapv:UnspecifiedMatching MONDO:0007286 cataract 30 skos:exactMatch mesh:C566157 semapv:UnspecifiedMatching MONDO:0007287 cataract 41 skos:exactMatch DOID:0110241 cataract 41 semapv:UnspecifiedMatching MONDO:0007287 cataract 41 skos:exactMatch MEDGEN:811742 semapv:UnspecifiedMatching MONDO:0007287 cataract 41 skos:exactMatch OMIM:116400 cataract 41 semapv:UnspecifiedMatching MONDO:0007287 cataract 41 skos:exactMatch UMLS:C3805412 semapv:UnspecifiedMatching MONDO:0007288 cataract 6 multiple types skos:exactMatch DOID:0110229 cataract 6 multiple types semapv:UnspecifiedMatching MONDO:0007288 cataract 6 multiple types skos:exactMatch MEDGEN:396229 semapv:UnspecifiedMatching MONDO:0007288 cataract 6 multiple types skos:exactMatch OMIM:116600 cataract 6, multiple types semapv:UnspecifiedMatching MONDO:0007288 cataract 6 multiple types skos:exactMatch UMLS:C1861825 semapv:UnspecifiedMatching MONDO:0007289 cataract 13 with adult I phenotype skos:exactMatch DOID:0110242 cataract 13 with adult i phenotype semapv:UnspecifiedMatching MONDO:0007289 cataract 13 with adult I phenotype skos:exactMatch MEDGEN:811703 semapv:UnspecifiedMatching MONDO:0007289 cataract 13 with adult I phenotype skos:exactMatch OMIM:116700 cataract 13 with adult i phenotype semapv:UnspecifiedMatching MONDO:0007289 cataract 13 with adult I phenotype skos:exactMatch UMLS:C3805373 semapv:UnspecifiedMatching MONDO:0007290 cataract 5 multiple types skos:exactMatch DOID:0110255 cataract 5 multiple types semapv:UnspecifiedMatching MONDO:0007290 cataract 5 multiple types skos:exactMatch MEDGEN:78608 semapv:UnspecifiedMatching MONDO:0007290 cataract 5 multiple types skos:exactMatch OMIM:116800 cataract 5, multiple types semapv:UnspecifiedMatching MONDO:0007290 cataract 5 multiple types skos:exactMatch UMLS:C0266537 semapv:UnspecifiedMatching MONDO:0007290 cataract 5 multiple types skos:exactMatch mesh:C535342 semapv:UnspecifiedMatching MONDO:0007293 leukocyte adhesion deficiency 1 skos:exactMatch DOID:0110910 leukocyte adhesion deficiency 1 semapv:UnspecifiedMatching MONDO:0007293 leukocyte adhesion deficiency 1 skos:exactMatch MEDGEN:98310 semapv:UnspecifiedMatching MONDO:0007293 leukocyte adhesion deficiency 1 skos:exactMatch NCIT:C4689 Leukocyte Adhesion Deficiency Type 1 semapv:UnspecifiedMatching MONDO:0007293 leukocyte adhesion deficiency 1 skos:exactMatch OMIM:116920 leukocyte adhesion deficiency, type 1 semapv:UnspecifiedMatching MONDO:0007293 leukocyte adhesion deficiency 1 skos:exactMatch Orphanet:99842 Leukocyte adhesion deficiency type I semapv:UnspecifiedMatching MONDO:0007293 leukocyte adhesion deficiency 1 skos:exactMatch SCTID:234582006 semapv:UnspecifiedMatching MONDO:0007293 leukocyte adhesion deficiency 1 skos:exactMatch UMLS:C0398738 semapv:UnspecifiedMatching MONDO:0007293 leukocyte adhesion deficiency 1 skos:exactMatch mesh:C535887 semapv:UnspecifiedMatching MONDO:0007294 central core myopathy skos:exactMatch DOID:3529 congenital myopathy 1A semapv:UnspecifiedMatching MONDO:0007294 central core myopathy skos:exactMatch EFO:1000855 semapv:UnspecifiedMatching MONDO:0007294 central core myopathy skos:exactMatch MEDGEN:1841337 semapv:UnspecifiedMatching MONDO:0007294 central core myopathy skos:exactMatch NCIT:C83010 Central Core Disease semapv:UnspecifiedMatching MONDO:0007294 central core myopathy skos:exactMatch OMIM:117000 congenital myopathy 1a, autosomal dominant, with susceptibility to malignant hyperthermia semapv:UnspecifiedMatching MONDO:0007294 central core myopathy skos:exactMatch Orphanet:597 Central core disease semapv:UnspecifiedMatching MONDO:0007294 central core myopathy skos:exactMatch SCTID:43152001 semapv:UnspecifiedMatching MONDO:0007294 central core myopathy skos:exactMatch UMLS:C5830701 semapv:UnspecifiedMatching MONDO:0007294 central core myopathy skos:exactMatch icd11.foundation:2065822840 Central core disease semapv:UnspecifiedMatching MONDO:0007294 central core myopathy skos:exactMatch mesh:D020512 semapv:UnspecifiedMatching MONDO:0007295 self-limited epilepsy with centrotemporal spikes skos:exactMatch DOID:3329 benign epilepsy with centrotemporal spikes semapv:UnspecifiedMatching MONDO:0007295 self-limited epilepsy with centrotemporal spikes skos:exactMatch MEDGEN:138210 semapv:UnspecifiedMatching MONDO:0007295 self-limited epilepsy with centrotemporal spikes skos:exactMatch NCIT:C116538 Benign Rolandic Epilepsy semapv:UnspecifiedMatching MONDO:0007295 self-limited epilepsy with centrotemporal spikes skos:exactMatch OMIM:117100 centralopathic epilepsy semapv:UnspecifiedMatching MONDO:0007295 self-limited epilepsy with centrotemporal spikes skos:exactMatch Orphanet:1945 Self-limited epilepsy with centrotemporal spikes semapv:UnspecifiedMatching MONDO:0007295 self-limited epilepsy with centrotemporal spikes skos:exactMatch SCTID:44145005 semapv:UnspecifiedMatching MONDO:0007295 self-limited epilepsy with centrotemporal spikes skos:exactMatch UMLS:C0376532 semapv:UnspecifiedMatching MONDO:0007295 self-limited epilepsy with centrotemporal spikes skos:exactMatch icd11.foundation:1046279423 Benign childhood epilepsy with centro-temporal spikes semapv:UnspecifiedMatching MONDO:0007296 spinocerebellar ataxia type 31 skos:exactMatch DOID:0050980 spinocerebellar ataxia 31 semapv:UnspecifiedMatching MONDO:0007296 spinocerebellar ataxia type 31 skos:exactMatch MEDGEN:348439 semapv:UnspecifiedMatching MONDO:0007296 spinocerebellar ataxia type 31 skos:exactMatch NCIT:C176901 Spinocerebellar Ataxia Type 31 semapv:UnspecifiedMatching MONDO:0007296 spinocerebellar ataxia type 31 skos:exactMatch OMIM:117210 spinocerebellar ataxia 31 semapv:UnspecifiedMatching MONDO:0007296 spinocerebellar ataxia type 31 skos:exactMatch Orphanet:217012 Spinocerebellar ataxia type 31 semapv:UnspecifiedMatching MONDO:0007296 spinocerebellar ataxia type 31 skos:exactMatch SCTID:715826005 semapv:UnspecifiedMatching MONDO:0007296 spinocerebellar ataxia type 31 skos:exactMatch UMLS:C1861736 semapv:UnspecifiedMatching MONDO:0007296 spinocerebellar ataxia type 31 skos:exactMatch icd11.foundation:250956064 Spinocerebellar ataxia type 31 semapv:UnspecifiedMatching MONDO:0007296 spinocerebellar ataxia type 31 skos:exactMatch mesh:C566146 semapv:UnspecifiedMatching MONDO:0007297 ADan amyloidosis skos:exactMatch DOID:0070030 ITM2B-related cerebral amyloid angiopathy 2 semapv:UnspecifiedMatching MONDO:0007297 ADan amyloidosis skos:exactMatch MEDGEN:396208 semapv:UnspecifiedMatching MONDO:0007297 ADan amyloidosis skos:exactMatch OMIM:117300 cerebral amyloid angiopathy, itm2b-related, 2 semapv:UnspecifiedMatching MONDO:0007297 ADan amyloidosis skos:exactMatch Orphanet:97346 ADan amyloidosis semapv:UnspecifiedMatching MONDO:0007297 ADan amyloidosis skos:exactMatch UMLS:C1861735 semapv:UnspecifiedMatching MONDO:0007297 ADan amyloidosis skos:exactMatch icd11.foundation:2086401830 Familial dementia, Danish type semapv:UnspecifiedMatching MONDO:0007297 ADan amyloidosis skos:exactMatch icd11.foundation:54507082 ADan amyloidosis semapv:UnspecifiedMatching MONDO:0007297 ADan amyloidosis skos:exactMatch mesh:C538209 semapv:UnspecifiedMatching MONDO:0007298 spinocerebellar ataxia type 29 skos:exactMatch DOID:0050978 spinocerebellar ataxia 29 semapv:UnspecifiedMatching MONDO:0007298 spinocerebellar ataxia type 29 skos:exactMatch MEDGEN:350085 semapv:UnspecifiedMatching MONDO:0007298 spinocerebellar ataxia type 29 skos:exactMatch OMIM:117360 spinocerebellar ataxia 29 semapv:UnspecifiedMatching MONDO:0007298 spinocerebellar ataxia type 29 skos:exactMatch Orphanet:208513 Spinocerebellar ataxia type 29 semapv:UnspecifiedMatching MONDO:0007298 spinocerebellar ataxia type 29 skos:exactMatch SCTID:715825009 semapv:UnspecifiedMatching MONDO:0007298 spinocerebellar ataxia type 29 skos:exactMatch UMLS:C1861732 semapv:UnspecifiedMatching MONDO:0007298 spinocerebellar ataxia type 29 skos:exactMatch icd11.foundation:359640365 Spinocerebellar ataxia type 29 semapv:UnspecifiedMatching MONDO:0007298 spinocerebellar ataxia type 29 skos:exactMatch mesh:C537206 semapv:UnspecifiedMatching MONDO:0007300 cerebral sarcoma skos:exactMatch MEDGEN:350081 semapv:UnspecifiedMatching MONDO:0007300 cerebral sarcoma skos:exactMatch OMIM:117600 cerebral sarcoma semapv:UnspecifiedMatching MONDO:0007300 cerebral sarcoma skos:exactMatch UMLS:C1861714 semapv:UnspecifiedMatching MONDO:0007300 cerebral sarcoma skos:exactMatch mesh:C537946 semapv:UnspecifiedMatching MONDO:0007301 cerebrocostomandibular syndrome skos:exactMatch DOID:0111248 cerebrocostomandibular syndrome semapv:UnspecifiedMatching MONDO:0007301 cerebrocostomandibular syndrome skos:exactMatch MEDGEN:120537 semapv:UnspecifiedMatching MONDO:0007301 cerebrocostomandibular syndrome skos:exactMatch OMIM:117650 cerebrocostomandibular syndrome semapv:UnspecifiedMatching MONDO:0007301 cerebrocostomandibular syndrome skos:exactMatch Orphanet:1393 Cerebrocostomandibular syndrome semapv:UnspecifiedMatching MONDO:0007301 cerebrocostomandibular syndrome skos:exactMatch SCTID:51780007 semapv:UnspecifiedMatching MONDO:0007301 cerebrocostomandibular syndrome skos:exactMatch UMLS:C0265342 semapv:UnspecifiedMatching MONDO:0007301 cerebrocostomandibular syndrome skos:exactMatch icd11.foundation:1475063064 Cerebrocostomandibular syndrome semapv:UnspecifiedMatching MONDO:0007301 cerebrocostomandibular syndrome skos:exactMatch mesh:C562538 semapv:UnspecifiedMatching MONDO:0007302 cervical hypertrichosis with underlying kyphoscoliosis skos:exactMatch MEDGEN:349343 semapv:UnspecifiedMatching MONDO:0007302 cervical hypertrichosis with underlying kyphoscoliosis skos:exactMatch OMIM:117850 cervical hypertrichosis with underlying kyphoscoliosis semapv:UnspecifiedMatching MONDO:0007302 cervical hypertrichosis with underlying kyphoscoliosis skos:exactMatch UMLS:C1861695 semapv:UnspecifiedMatching MONDO:0007302 cervical hypertrichosis with underlying kyphoscoliosis skos:exactMatch mesh:C566142 semapv:UnspecifiedMatching MONDO:0007303 cervical rib disease skos:exactMatch ICD10CM:Q76.5 Cervical rib semapv:UnspecifiedMatching MONDO:0007303 cervical rib disease skos:exactMatch MEDGEN:102359 semapv:UnspecifiedMatching MONDO:0007303 cervical rib disease skos:exactMatch NCIT:C158329 Cervical Rib semapv:UnspecifiedMatching MONDO:0007303 cervical rib disease skos:exactMatch OMIM:117900 cervical rib semapv:UnspecifiedMatching MONDO:0007303 cervical rib disease skos:exactMatch SCTID:72535009 semapv:UnspecifiedMatching MONDO:0007303 cervical rib disease skos:exactMatch UMLS:C0158779 semapv:UnspecifiedMatching MONDO:0007303 cervical rib disease skos:exactMatch mesh:D002573 semapv:UnspecifiedMatching MONDO:0007304 cervical vertebral Bridge skos:exactMatch MEDGEN:348426 semapv:UnspecifiedMatching MONDO:0007304 cervical vertebral Bridge skos:exactMatch OMIM:118000 cervical vertebral bridge semapv:UnspecifiedMatching MONDO:0007304 cervical vertebral Bridge skos:exactMatch UMLS:C1861694 semapv:UnspecifiedMatching MONDO:0007305 cervical vertebral dysplasia skos:exactMatch MEDGEN:396199 semapv:UnspecifiedMatching MONDO:0007305 cervical vertebral dysplasia skos:exactMatch OMIM:118005 cervical vertebral dysplasia semapv:UnspecifiedMatching MONDO:0007305 cervical vertebral dysplasia skos:exactMatch UMLS:C1861693 semapv:UnspecifiedMatching MONDO:0007305 cervical vertebral dysplasia skos:exactMatch mesh:C566140 semapv:UnspecifiedMatching MONDO:0007306 Klippel-Feil syndrome 1, autosomal dominant skos:exactMatch DOID:0080589 Klippel-Feil syndrome 1 semapv:UnspecifiedMatching MONDO:0007306 Klippel-Feil syndrome 1, autosomal dominant skos:exactMatch MEDGEN:396196 semapv:UnspecifiedMatching MONDO:0007306 Klippel-Feil syndrome 1, autosomal dominant skos:exactMatch OMIM:118100 klippel-feil syndrome 1, autosomal dominant semapv:UnspecifiedMatching MONDO:0007306 Klippel-Feil syndrome 1, autosomal dominant skos:exactMatch UMLS:C1861689 semapv:UnspecifiedMatching MONDO:0007306 Klippel-Feil syndrome 1, autosomal dominant skos:exactMatch mesh:C536887 semapv:UnspecifiedMatching MONDO:0007307 Charcot-Marie-Tooth disease type 1B skos:exactMatch DOID:0110152 Charcot-Marie-Tooth disease type 1B semapv:UnspecifiedMatching MONDO:0007307 Charcot-Marie-Tooth disease type 1B skos:exactMatch MEDGEN:124377 semapv:UnspecifiedMatching MONDO:0007307 Charcot-Marie-Tooth disease type 1B skos:exactMatch NCIT:C118782 Charcot-Marie-Tooth Disease Type 1B semapv:UnspecifiedMatching MONDO:0007307 Charcot-Marie-Tooth disease type 1B skos:exactMatch OMIM:118200 charcot-marie-tooth disease, demyelinating, type 1b semapv:UnspecifiedMatching MONDO:0007307 Charcot-Marie-Tooth disease type 1B skos:exactMatch Orphanet:101082 Charcot-Marie-Tooth disease type 1B semapv:UnspecifiedMatching MONDO:0007307 Charcot-Marie-Tooth disease type 1B skos:exactMatch UMLS:C0270912 semapv:UnspecifiedMatching MONDO:0007307 Charcot-Marie-Tooth disease type 1B skos:exactMatch icd11.foundation:1632280319 Charcot-Marie-Tooth disease type 1B semapv:UnspecifiedMatching MONDO:0007308 Charcot-Marie-Tooth disease type 2A1 skos:exactMatch DOID:0110154 Charcot-Marie-Tooth disease type 2A1 semapv:UnspecifiedMatching MONDO:0007308 Charcot-Marie-Tooth disease type 2A1 skos:exactMatch MEDGEN:350076 semapv:UnspecifiedMatching MONDO:0007308 Charcot-Marie-Tooth disease type 2A1 skos:exactMatch NCIT:C134952 Charcot-Marie-Tooth Disease Type 2A semapv:UnspecifiedMatching MONDO:0007308 Charcot-Marie-Tooth disease type 2A1 skos:exactMatch NCIT:C150609 Charcot-Marie-Tooth Disease Type 2A1 semapv:UnspecifiedMatching MONDO:0007308 Charcot-Marie-Tooth disease type 2A1 skos:exactMatch OMIM:118210 charcot-marie-tooth disease, axonal, type 2a1 semapv:UnspecifiedMatching MONDO:0007308 Charcot-Marie-Tooth disease type 2A1 skos:exactMatch Orphanet:99946 Autosomal dominant Charcot-Marie-Tooth disease type 2A1 semapv:UnspecifiedMatching MONDO:0007308 Charcot-Marie-Tooth disease type 2A1 skos:exactMatch SCTID:717016001 semapv:UnspecifiedMatching MONDO:0007308 Charcot-Marie-Tooth disease type 2A1 skos:exactMatch UMLS:C1861678 semapv:UnspecifiedMatching MONDO:0007308 Charcot-Marie-Tooth disease type 2A1 skos:exactMatch icd11.foundation:2087067372 Charcot-Marie-Tooth disease type 2A1 semapv:UnspecifiedMatching MONDO:0007308 Charcot-Marie-Tooth disease type 2A1 skos:exactMatch mesh:C566138 semapv:UnspecifiedMatching MONDO:0007309 Charcot-Marie-Tooth disease type 1A skos:exactMatch DOID:0110148 Charcot-Marie-Tooth disease type 1A semapv:UnspecifiedMatching MONDO:0007309 Charcot-Marie-Tooth disease type 1A skos:exactMatch MEDGEN:75727 semapv:UnspecifiedMatching MONDO:0007309 Charcot-Marie-Tooth disease type 1A skos:exactMatch NCIT:C75468 Charcot-Marie-Tooth Disease Type 1A semapv:UnspecifiedMatching MONDO:0007309 Charcot-Marie-Tooth disease type 1A skos:exactMatch OMIM:118220 charcot-marie-tooth disease, demyelinating, type 1a semapv:UnspecifiedMatching MONDO:0007309 Charcot-Marie-Tooth disease type 1A skos:exactMatch Orphanet:101081 Charcot-Marie-Tooth disease type 1A semapv:UnspecifiedMatching MONDO:0007309 Charcot-Marie-Tooth disease type 1A skos:exactMatch UMLS:C0270911 semapv:UnspecifiedMatching MONDO:0007310 Charcot-Marie-Tooth disease, Guadalajara neuronal type skos:exactMatch MEDGEN:350075 semapv:UnspecifiedMatching MONDO:0007310 Charcot-Marie-Tooth disease, Guadalajara neuronal type skos:exactMatch OMIM:118230 charcot-marie-tooth disease, guadalajara neuronal type semapv:UnspecifiedMatching MONDO:0007310 Charcot-Marie-Tooth disease, Guadalajara neuronal type skos:exactMatch UMLS:C1861673 semapv:UnspecifiedMatching MONDO:0007310 Charcot-Marie-Tooth disease, Guadalajara neuronal type skos:exactMatch mesh:C566137 semapv:UnspecifiedMatching MONDO:0007311 Charcot-Marie-Tooth disease type 1E skos:exactMatch DOID:0110153 Charcot-Marie-Tooth disease type 1E semapv:UnspecifiedMatching MONDO:0007311 Charcot-Marie-Tooth disease type 1E skos:exactMatch MEDGEN:501212 semapv:UnspecifiedMatching MONDO:0007311 Charcot-Marie-Tooth disease type 1E skos:exactMatch OMIM:118300 charcot-marie-tooth disease and deafness semapv:UnspecifiedMatching MONDO:0007311 Charcot-Marie-Tooth disease type 1E skos:exactMatch Orphanet:90658 Charcot-Marie-Tooth disease type 1E semapv:UnspecifiedMatching MONDO:0007311 Charcot-Marie-Tooth disease type 1E skos:exactMatch UMLS:C3495591 semapv:UnspecifiedMatching MONDO:0007311 Charcot-Marie-Tooth disease type 1E skos:exactMatch icd11.foundation:1924906594 Charcot-Marie-Tooth disease type 1E semapv:UnspecifiedMatching MONDO:0007311 Charcot-Marie-Tooth disease type 1E skos:exactMatch mesh:C537986 semapv:UnspecifiedMatching MONDO:0007312 Charcot-Marie-Tooth disease with ptosis and parkinsonism skos:exactMatch MEDGEN:396191 semapv:UnspecifiedMatching MONDO:0007312 Charcot-Marie-Tooth disease with ptosis and parkinsonism skos:exactMatch OMIM:118301 charcot-marie-tooth disease with ptosis and parkinsonism semapv:UnspecifiedMatching MONDO:0007312 Charcot-Marie-Tooth disease with ptosis and parkinsonism skos:exactMatch UMLS:C1861668 semapv:UnspecifiedMatching MONDO:0007312 Charcot-Marie-Tooth disease with ptosis and parkinsonism skos:exactMatch mesh:C538079 semapv:UnspecifiedMatching MONDO:0007313 cheilitis glandularis skos:exactMatch MEDGEN:75626 semapv:UnspecifiedMatching MONDO:0007313 cheilitis glandularis skos:exactMatch OMIM:118330 cheilitis glandularis semapv:UnspecifiedMatching MONDO:0007313 cheilitis glandularis skos:exactMatch Orphanet:1221 Cheilitis glandularis semapv:UnspecifiedMatching MONDO:0007313 cheilitis glandularis skos:exactMatch SCTID:26374003 semapv:UnspecifiedMatching MONDO:0007313 cheilitis glandularis skos:exactMatch UMLS:C0267034 semapv:UnspecifiedMatching MONDO:0007313 cheilitis glandularis skos:exactMatch mesh:C535921 semapv:UnspecifiedMatching MONDO:0007314 chemodectoma, intraabdominal, with cutaneous angiolipomas skos:exactMatch MEDGEN:443934 semapv:UnspecifiedMatching MONDO:0007314 chemodectoma, intraabdominal, with cutaneous angiolipomas skos:exactMatch OMIM:118350 chemodectoma, intraabdominal, with cutaneous angiolipomas semapv:UnspecifiedMatching MONDO:0007314 chemodectoma, intraabdominal, with cutaneous angiolipomas skos:exactMatch UMLS:C2930928 semapv:UnspecifiedMatching MONDO:0007314 chemodectoma, intraabdominal, with cutaneous angiolipomas skos:exactMatch mesh:C535552 semapv:UnspecifiedMatching MONDO:0007315 cherubism skos:exactMatch DOID:1856 cherubism 1 semapv:UnspecifiedMatching MONDO:0007315 cherubism skos:exactMatch MEDGEN:40219 semapv:UnspecifiedMatching MONDO:0007315 cherubism skos:exactMatch NCIT:C84630 Cherubism semapv:UnspecifiedMatching MONDO:0007315 cherubism skos:exactMatch OMIM:118400 cherubism semapv:UnspecifiedMatching MONDO:0007315 cherubism skos:exactMatch Orphanet:184 Cherubism semapv:UnspecifiedMatching MONDO:0007315 cherubism skos:exactMatch SCTID:76098004 semapv:UnspecifiedMatching MONDO:0007315 cherubism skos:exactMatch UMLS:C0008029 semapv:UnspecifiedMatching MONDO:0007315 cherubism skos:exactMatch icd11.foundation:1729261719 Cherubism semapv:UnspecifiedMatching MONDO:0007315 cherubism skos:exactMatch mesh:D002636 semapv:UnspecifiedMatching MONDO:0007316 Chiari malformation type I skos:exactMatch MEDGEN:196689 semapv:UnspecifiedMatching MONDO:0007316 Chiari malformation type I skos:exactMatch OMIM:118420 chiari malformation type 1 semapv:UnspecifiedMatching MONDO:0007316 Chiari malformation type I skos:exactMatch Orphanet:268882 Arnold-Chiari malformation type I semapv:UnspecifiedMatching MONDO:0007316 Chiari malformation type I skos:exactMatch SCTID:253185002 semapv:UnspecifiedMatching MONDO:0007316 Chiari malformation type I skos:exactMatch UMLS:C0750929 semapv:UnspecifiedMatching MONDO:0007316 Chiari malformation type I skos:exactMatch icd11.foundation:1383121646 Arnold-Chiari malformation type I semapv:UnspecifiedMatching MONDO:0007317 obsolete chlorpropamide-alcohol flushing skos:exactMatch OMIM:118430 chlorpropamide-alcohol flushing semapv:UnspecifiedMatching MONDO:0007318 Alagille syndrome skos:exactMatch DOID:9245 Alagille syndrome semapv:UnspecifiedMatching MONDO:0007318 Alagille syndrome skos:exactMatch MEDGEN:39014 semapv:UnspecifiedMatching MONDO:0007318 Alagille syndrome skos:exactMatch NCIT:C35139 Alagille Syndrome semapv:UnspecifiedMatching MONDO:0007318 Alagille syndrome skos:exactMatch OMIMPS:118450 Alagille syndrome semapv:UnspecifiedMatching MONDO:0007318 Alagille syndrome skos:exactMatch Orphanet:52 Alagille syndrome semapv:UnspecifiedMatching MONDO:0007318 Alagille syndrome skos:exactMatch SCTID:31742004 semapv:UnspecifiedMatching MONDO:0007318 Alagille syndrome skos:exactMatch UMLS:C0085280 semapv:UnspecifiedMatching MONDO:0007318 Alagille syndrome skos:exactMatch icd11.foundation:1249656206 Alagille syndrome semapv:UnspecifiedMatching MONDO:0007318 Alagille syndrome skos:exactMatch mesh:D016738 semapv:UnspecifiedMatching MONDO:0007319 chondrocalcinosis 2 skos:exactMatch MEDGEN:163633 semapv:UnspecifiedMatching MONDO:0007319 chondrocalcinosis 2 skos:exactMatch OMIM:118600 chondrocalcinosis 2 semapv:UnspecifiedMatching MONDO:0007319 chondrocalcinosis 2 skos:exactMatch Orphanet:1416 Familial calcium pyrophosphate deposition semapv:UnspecifiedMatching MONDO:0007319 chondrocalcinosis 2 skos:exactMatch UMLS:C0856830 semapv:UnspecifiedMatching MONDO:0007319 chondrocalcinosis 2 skos:exactMatch mesh:C563162 semapv:UnspecifiedMatching MONDO:0007320 chondrocalcinosis due to apatite crystal deposition skos:exactMatch MEDGEN:349317 semapv:UnspecifiedMatching MONDO:0007320 chondrocalcinosis due to apatite crystal deposition skos:exactMatch OMIM:118610 chondrocalcinosis due to apatite crystal deposition semapv:UnspecifiedMatching MONDO:0007320 chondrocalcinosis due to apatite crystal deposition skos:exactMatch UMLS:C1861580 semapv:UnspecifiedMatching MONDO:0007320 chondrocalcinosis due to apatite crystal deposition skos:exactMatch mesh:C535939 semapv:UnspecifiedMatching MONDO:0007321 autosomal dominant chondrodysplasia punctata skos:exactMatch DOID:0060293 autosomal dominant chondrodysplasia punctata semapv:UnspecifiedMatching MONDO:0007321 autosomal dominant chondrodysplasia punctata skos:exactMatch MEDGEN:303176 semapv:UnspecifiedMatching MONDO:0007321 autosomal dominant chondrodysplasia punctata skos:exactMatch OMIM:118650 chondrodysplasia punctata, autosomal dominant semapv:UnspecifiedMatching MONDO:0007321 autosomal dominant chondrodysplasia punctata skos:exactMatch UMLS:C1442935 semapv:UnspecifiedMatching MONDO:0007321 autosomal dominant chondrodysplasia punctata skos:exactMatch mesh:C563248 semapv:UnspecifiedMatching MONDO:0007322 chondrodysplasia punctata, tibial-metacarpal type skos:exactMatch MEDGEN:98147 semapv:UnspecifiedMatching MONDO:0007322 chondrodysplasia punctata, tibial-metacarpal type skos:exactMatch OMIM:118651 chondrodysplasia punctata, tibia-metacarpal type semapv:UnspecifiedMatching MONDO:0007322 chondrodysplasia punctata, tibial-metacarpal type skos:exactMatch Orphanet:79346 Chondrodysplasia punctata, tibial-metacarpal type semapv:UnspecifiedMatching MONDO:0007322 chondrodysplasia punctata, tibial-metacarpal type skos:exactMatch SCTID:254083002 semapv:UnspecifiedMatching MONDO:0007322 chondrodysplasia punctata, tibial-metacarpal type skos:exactMatch UMLS:C0432224 semapv:UnspecifiedMatching MONDO:0007322 chondrodysplasia punctata, tibial-metacarpal type skos:exactMatch icd11.foundation:1513713461 Chondrodysplasia punctata, tibial-metacarpal type semapv:UnspecifiedMatching MONDO:0007322 chondrodysplasia punctata, tibial-metacarpal type skos:exactMatch mesh:C562961 semapv:UnspecifiedMatching MONDO:0007323 Chondronectin skos:exactMatch MEDGEN:854532 semapv:UnspecifiedMatching MONDO:0007323 Chondronectin skos:exactMatch OMIM:118670 chondronectin semapv:UnspecifiedMatching MONDO:0007323 Chondronectin skos:exactMatch UMLS:C3887693 semapv:UnspecifiedMatching MONDO:0007325 choreoathetosis, familial inverted skos:exactMatch MEDGEN:348393 semapv:UnspecifiedMatching MONDO:0007325 choreoathetosis, familial inverted skos:exactMatch OMIM:118750 choreoathetosis, familial inverted semapv:UnspecifiedMatching MONDO:0007325 choreoathetosis, familial inverted skos:exactMatch UMLS:C1861569 semapv:UnspecifiedMatching MONDO:0007325 choreoathetosis, familial inverted skos:exactMatch mesh:C566127 semapv:UnspecifiedMatching MONDO:0007327 chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase skos:exactMatch DOID:0111419 familial chylomicronemia due to inhibition of lipoprotein lipase activity semapv:UnspecifiedMatching MONDO:0007327 chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase skos:exactMatch MEDGEN:348391 semapv:UnspecifiedMatching MONDO:0007327 chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase skos:exactMatch OMIM:118830 chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase semapv:UnspecifiedMatching MONDO:0007327 chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase skos:exactMatch UMLS:C1861560 semapv:UnspecifiedMatching MONDO:0007327 chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase skos:exactMatch mesh:C566126 semapv:UnspecifiedMatching MONDO:0007328 choroidal osteoma, bilateral skos:exactMatch MEDGEN:396164 semapv:UnspecifiedMatching MONDO:0007328 choroidal osteoma, bilateral skos:exactMatch OMIM:118865 choroidal osteoma, bilateral semapv:UnspecifiedMatching MONDO:0007328 choroidal osteoma, bilateral skos:exactMatch UMLS:C1861558 semapv:UnspecifiedMatching MONDO:0007328 choroidal osteoma, bilateral skos:exactMatch mesh:C566124 semapv:UnspecifiedMatching MONDO:0007329 cirrhosis, familial skos:exactMatch MEDGEN:350049 semapv:UnspecifiedMatching MONDO:0007329 cirrhosis, familial skos:exactMatch NCIT:C84411 Cryptogenic Cirrhosis semapv:UnspecifiedMatching MONDO:0007329 cirrhosis, familial skos:exactMatch OMIM:215600 cirrhosis, familial semapv:UnspecifiedMatching MONDO:0007329 cirrhosis, familial skos:exactMatch SCTID:6183001 semapv:UnspecifiedMatching MONDO:0007329 cirrhosis, familial skos:exactMatch UMLS:C1861556 semapv:UnspecifiedMatching MONDO:0007329 cirrhosis, familial skos:exactMatch mesh:C566123 semapv:UnspecifiedMatching MONDO:0007330 congenital pseudoarthrosis of clavicle skos:exactMatch MEDGEN:75577 semapv:UnspecifiedMatching MONDO:0007330 congenital pseudoarthrosis of clavicle skos:exactMatch OMIM:118980 clavicle, pseudarthrosis of, congenital semapv:UnspecifiedMatching MONDO:0007330 congenital pseudoarthrosis of clavicle skos:exactMatch Orphanet:66630 Congenital pseudoarthrosis of the clavicle semapv:UnspecifiedMatching MONDO:0007330 congenital pseudoarthrosis of clavicle skos:exactMatch SCTID:70794004 semapv:UnspecifiedMatching MONDO:0007330 congenital pseudoarthrosis of clavicle skos:exactMatch UMLS:C0265565 semapv:UnspecifiedMatching MONDO:0007330 congenital pseudoarthrosis of clavicle skos:exactMatch icd11.foundation:1844778103 Congenital pseudoarthrosis of clavicle semapv:UnspecifiedMatching MONDO:0007330 congenital pseudoarthrosis of clavicle skos:exactMatch mesh:C562548 semapv:UnspecifiedMatching MONDO:0007331 obsolete cleft chin skos:exactMatch OMIM:119000 cleft chin semapv:UnspecifiedMatching MONDO:0007332 split-hand/foot malformation with long bone deficiency 1 skos:exactMatch MEDGEN:349310 semapv:UnspecifiedMatching MONDO:0007332 split-hand/foot malformation with long bone deficiency 1 skos:exactMatch OMIM:119100 split-hand/foot malformation with long bone deficiency 1 semapv:UnspecifiedMatching MONDO:0007332 split-hand/foot malformation with long bone deficiency 1 skos:exactMatch UMLS:C1861553 semapv:UnspecifiedMatching MONDO:0007332 split-hand/foot malformation with long bone deficiency 1 skos:exactMatch mesh:C536425 semapv:UnspecifiedMatching MONDO:0007333 van der Woude syndrome 1 skos:exactMatch MEDGEN:1640616 semapv:UnspecifiedMatching MONDO:0007333 van der Woude syndrome 1 skos:exactMatch OMIM:119300 van der woude syndrome 1 semapv:UnspecifiedMatching MONDO:0007333 van der Woude syndrome 1 skos:exactMatch UMLS:C4551864 semapv:UnspecifiedMatching MONDO:0007334 autosomal dominant popliteal pterygium syndrome skos:exactMatch MEDGEN:1844082 semapv:UnspecifiedMatching MONDO:0007334 autosomal dominant popliteal pterygium syndrome skos:exactMatch OMIM:119500 popliteal pterygium syndrome semapv:UnspecifiedMatching MONDO:0007334 autosomal dominant popliteal pterygium syndrome skos:exactMatch Orphanet:1300 Autosomal dominant popliteal pterygium syndrome semapv:UnspecifiedMatching MONDO:0007334 autosomal dominant popliteal pterygium syndrome skos:exactMatch SCTID:718222000 semapv:UnspecifiedMatching MONDO:0007334 autosomal dominant popliteal pterygium syndrome skos:exactMatch UMLS:C5848052 semapv:UnspecifiedMatching MONDO:0007334 autosomal dominant popliteal pterygium syndrome skos:exactMatch icd11.foundation:2069589860 Autosomal dominant popliteal pterygium syndrome semapv:UnspecifiedMatching MONDO:0007335 orofacial cleft 1 skos:exactMatch DOID:0080395 orofacial cleft 1 semapv:UnspecifiedMatching MONDO:0007335 orofacial cleft 1 skos:exactMatch MEDGEN:349303 semapv:UnspecifiedMatching MONDO:0007335 orofacial cleft 1 skos:exactMatch NCIT:C124838 Orofacial Cleft 1 semapv:UnspecifiedMatching MONDO:0007335 orofacial cleft 1 skos:exactMatch OMIM:119530 orofacial cleft 1 semapv:UnspecifiedMatching MONDO:0007335 orofacial cleft 1 skos:exactMatch UMLS:C1861537 semapv:UnspecifiedMatching MONDO:0007335 orofacial cleft 1 skos:exactMatch mesh:C566121 semapv:UnspecifiedMatching MONDO:0007336 isolated cleft palate skos:exactMatch DOID:0110213 isolated cleft palate semapv:UnspecifiedMatching MONDO:0007336 isolated cleft palate skos:exactMatch MEDGEN:332392 semapv:UnspecifiedMatching MONDO:0007336 isolated cleft palate skos:exactMatch OMIM:119540 cleft palate, isolated semapv:UnspecifiedMatching MONDO:0007336 isolated cleft palate skos:exactMatch UMLS:C1837218 semapv:UnspecifiedMatching MONDO:0007337 cleft palate-lateral synechia syndrome skos:exactMatch DOID:0080313 cleft palate-lateral synechia syndrome semapv:UnspecifiedMatching MONDO:0007337 cleft palate-lateral synechia syndrome skos:exactMatch MEDGEN:162888 semapv:UnspecifiedMatching MONDO:0007337 cleft palate-lateral synechia syndrome skos:exactMatch OMIM:119550 syngnathia semapv:UnspecifiedMatching MONDO:0007337 cleft palate-lateral synechia syndrome skos:exactMatch Orphanet:2016 Cleft palate-lateral synechia syndrome semapv:UnspecifiedMatching MONDO:0007337 cleft palate-lateral synechia syndrome skos:exactMatch SCTID:403772000 semapv:UnspecifiedMatching MONDO:0007337 cleft palate-lateral synechia syndrome skos:exactMatch UMLS:C0795898 semapv:UnspecifiedMatching MONDO:0007337 cleft palate-lateral synechia syndrome skos:exactMatch mesh:C563047 semapv:UnspecifiedMatching MONDO:0007338 cleft soft palate skos:exactMatch DOID:0110214 cleft soft palate semapv:UnspecifiedMatching MONDO:0007338 cleft soft palate skos:exactMatch ICD10CM:Q35.3 Cleft soft palate semapv:UnspecifiedMatching MONDO:0007338 cleft soft palate skos:exactMatch MEDGEN:98471 semapv:UnspecifiedMatching MONDO:0007338 cleft soft palate skos:exactMatch OMIM:119570 cleft soft palate semapv:UnspecifiedMatching MONDO:0007338 cleft soft palate skos:exactMatch Orphanet:99772 Cleft velum semapv:UnspecifiedMatching MONDO:0007338 cleft soft palate skos:exactMatch SCTID:253997002 semapv:UnspecifiedMatching MONDO:0007338 cleft soft palate skos:exactMatch UMLS:C0432098 semapv:UnspecifiedMatching MONDO:0007338 cleft soft palate skos:exactMatch icd11.foundation:797497023 Cleft soft palate semapv:UnspecifiedMatching MONDO:0007338 cleft soft palate skos:exactMatch mesh:C562950 semapv:UnspecifiedMatching MONDO:0007339 blepharocheilodontic syndrome skos:exactMatch DOID:0080344 blepharocheilodontic syndrome semapv:UnspecifiedMatching MONDO:0007339 blepharocheilodontic syndrome skos:exactMatch MEDGEN:349302 semapv:UnspecifiedMatching MONDO:0007339 blepharocheilodontic syndrome skos:exactMatch OMIMPS:119580 Blepharocheilodontic syndrome semapv:UnspecifiedMatching MONDO:0007339 blepharocheilodontic syndrome skos:exactMatch Orphanet:1997 Blepharo-cheilo-odontic syndrome semapv:UnspecifiedMatching MONDO:0007339 blepharocheilodontic syndrome skos:exactMatch SCTID:717911008 semapv:UnspecifiedMatching MONDO:0007339 blepharocheilodontic syndrome skos:exactMatch UMLS:C1861536 semapv:UnspecifiedMatching MONDO:0007339 blepharocheilodontic syndrome skos:exactMatch icd11.foundation:755252042 Blepharocheilodontic syndrome semapv:UnspecifiedMatching MONDO:0007339 blepharocheilodontic syndrome skos:exactMatch mesh:C536188 semapv:UnspecifiedMatching MONDO:0007340 cleidocranial dysplasia 1 skos:exactMatch DOID:13994 cleidocranial dysplasia semapv:UnspecifiedMatching MONDO:0007340 cleidocranial dysplasia 1 skos:exactMatch MEDGEN:3486 semapv:UnspecifiedMatching MONDO:0007340 cleidocranial dysplasia 1 skos:exactMatch NCIT:C75020 Cleidocranial Dysplasia semapv:UnspecifiedMatching MONDO:0007340 cleidocranial dysplasia 1 skos:exactMatch OMIM:119600 cleidocranial dysplasia 1 semapv:UnspecifiedMatching MONDO:0007340 cleidocranial dysplasia 1 skos:exactMatch Orphanet:1452 Cleidocranial dysplasia semapv:UnspecifiedMatching MONDO:0007340 cleidocranial dysplasia 1 skos:exactMatch SCTID:65976001 semapv:UnspecifiedMatching MONDO:0007340 cleidocranial dysplasia 1 skos:exactMatch UMLS:C0008928 semapv:UnspecifiedMatching MONDO:0007340 cleidocranial dysplasia 1 skos:exactMatch mesh:D002973 semapv:UnspecifiedMatching MONDO:0007341 cleidorhizomelic syndrome skos:exactMatch MEDGEN:350042 semapv:UnspecifiedMatching MONDO:0007341 cleidorhizomelic syndrome skos:exactMatch OMIM:119650 cleidorhizomelic syndrome semapv:UnspecifiedMatching MONDO:0007341 cleidorhizomelic syndrome skos:exactMatch Orphanet:1453 Cleidorhizomelic syndrome semapv:UnspecifiedMatching MONDO:0007341 cleidorhizomelic syndrome skos:exactMatch SCTID:719471002 semapv:UnspecifiedMatching MONDO:0007341 cleidorhizomelic syndrome skos:exactMatch UMLS:C1861515 semapv:UnspecifiedMatching MONDO:0007341 cleidorhizomelic syndrome skos:exactMatch mesh:C536428 semapv:UnspecifiedMatching MONDO:0007342 clubfoot skos:exactMatch DOID:11836 clubfoot semapv:UnspecifiedMatching MONDO:0007342 clubfoot skos:exactMatch ICD10CM:Q66.0 Congenital talipes equinovarus semapv:UnspecifiedMatching MONDO:0007342 clubfoot skos:exactMatch MEDGEN:3130 semapv:UnspecifiedMatching MONDO:0007342 clubfoot skos:exactMatch NCIT:C84641 Clubfoot semapv:UnspecifiedMatching MONDO:0007342 clubfoot skos:exactMatch OMIM:119800 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly semapv:UnspecifiedMatching MONDO:0007342 clubfoot skos:exactMatch SCTID:397932003 semapv:UnspecifiedMatching MONDO:0007342 clubfoot skos:exactMatch UMLS:C0009081 semapv:UnspecifiedMatching MONDO:0007342 clubfoot skos:exactMatch mesh:D003025 semapv:UnspecifiedMatching MONDO:0007343 isolated congenital digital clubbing skos:exactMatch MEDGEN:576901 semapv:UnspecifiedMatching MONDO:0007343 isolated congenital digital clubbing skos:exactMatch OMIM:119900 digital clubbing, isolated congenital semapv:UnspecifiedMatching MONDO:0007343 isolated congenital digital clubbing skos:exactMatch Orphanet:217059 Isolated nail clubbing semapv:UnspecifiedMatching MONDO:0007343 isolated congenital digital clubbing skos:exactMatch UMLS:C0345408 semapv:UnspecifiedMatching MONDO:0007343 isolated congenital digital clubbing skos:exactMatch icd11.foundation:130631845 Congenital digital clubbing semapv:UnspecifiedMatching MONDO:0007344 cluster headache, familial skos:exactMatch MEDGEN:350040 semapv:UnspecifiedMatching MONDO:0007344 cluster headache, familial skos:exactMatch OMIM:119915 cluster headache, familial semapv:UnspecifiedMatching MONDO:0007344 cluster headache, familial skos:exactMatch UMLS:C1861513 semapv:UnspecifiedMatching MONDO:0007344 cluster headache, familial skos:exactMatch mesh:C566117 semapv:UnspecifiedMatching MONDO:0007345 aorta coarctation skos:exactMatch DOID:0051054 coarctation of the aorta semapv:UnspecifiedMatching MONDO:0007345 aorta coarctation skos:exactMatch EFO:1001267 semapv:UnspecifiedMatching MONDO:0007345 aorta coarctation skos:exactMatch ICD10CM:Q25.1 Coarctation of aorta semapv:UnspecifiedMatching MONDO:0007345 aorta coarctation skos:exactMatch MEDGEN:1617 semapv:UnspecifiedMatching MONDO:0007345 aorta coarctation skos:exactMatch NCIT:C84567 Aortic Coarctation semapv:UnspecifiedMatching MONDO:0007345 aorta coarctation skos:exactMatch OMIM:120000 coarctation of aorta semapv:UnspecifiedMatching MONDO:0007345 aorta coarctation skos:exactMatch Orphanet:1457 Aorta coarctation semapv:UnspecifiedMatching MONDO:0007345 aorta coarctation skos:exactMatch SCTID:7305005 semapv:UnspecifiedMatching MONDO:0007345 aorta coarctation skos:exactMatch UMLS:C0003492 semapv:UnspecifiedMatching MONDO:0007345 aorta coarctation skos:exactMatch icd11.foundation:1524185114 Coarctation of aorta semapv:UnspecifiedMatching MONDO:0007345 aorta coarctation skos:exactMatch mesh:D001017 semapv:UnspecifiedMatching MONDO:0007346 cochleosaccular degeneration-cataract syndrome skos:exactMatch MEDGEN:348378 semapv:UnspecifiedMatching MONDO:0007346 cochleosaccular degeneration-cataract syndrome skos:exactMatch OMIM:120040 cochleosaccular degeneration with progressive cataracts semapv:UnspecifiedMatching MONDO:0007346 cochleosaccular degeneration-cataract syndrome skos:exactMatch Orphanet:3233 Cochleosaccular degeneration-cataract syndrome semapv:UnspecifiedMatching MONDO:0007346 cochleosaccular degeneration-cataract syndrome skos:exactMatch SCTID:715528001 semapv:UnspecifiedMatching MONDO:0007346 cochleosaccular degeneration-cataract syndrome skos:exactMatch UMLS:C1861512 semapv:UnspecifiedMatching MONDO:0007346 cochleosaccular degeneration-cataract syndrome skos:exactMatch mesh:C536432 semapv:UnspecifiedMatching MONDO:0007347 obsolete Coxsackievirus B3 susceptibility skos:exactMatch OMIM:120050 coxsackievirus b3 susceptibility semapv:UnspecifiedMatching MONDO:0007348 obsolete colchicine resistance skos:exactMatch OMIM:120080 colchicine resistance semapv:UnspecifiedMatching MONDO:0007349 familial cold autoinflammatory syndrome 1 skos:exactMatch DOID:0090062 familial cold autoinflammatory syndrome 1 semapv:UnspecifiedMatching MONDO:0007349 familial cold autoinflammatory syndrome 1 skos:exactMatch MEDGEN:1647324 semapv:UnspecifiedMatching MONDO:0007349 familial cold autoinflammatory syndrome 1 skos:exactMatch OMIM:120100 familial cold autoinflammatory syndrome 1 semapv:UnspecifiedMatching MONDO:0007349 familial cold autoinflammatory syndrome 1 skos:exactMatch SCTID:238687000 semapv:UnspecifiedMatching MONDO:0007349 familial cold autoinflammatory syndrome 1 skos:exactMatch UMLS:C4551895 semapv:UnspecifiedMatching MONDO:0007350 coloboma, ocular, autosomal dominant skos:exactMatch MEDGEN:1859952 semapv:UnspecifiedMatching MONDO:0007350 coloboma, ocular, autosomal dominant skos:exactMatch OMIM:120200 microphthalmia/coloboma 12 semapv:UnspecifiedMatching MONDO:0007350 coloboma, ocular, autosomal dominant skos:exactMatch UMLS:C5886785 semapv:UnspecifiedMatching MONDO:0007351 coloboma of macula skos:exactMatch MEDGEN:342305 semapv:UnspecifiedMatching MONDO:0007351 coloboma of macula skos:exactMatch OMIM:120300 coloboma of macula semapv:UnspecifiedMatching MONDO:0007351 coloboma of macula skos:exactMatch Orphanet:98945 Coloboma of macula semapv:UnspecifiedMatching MONDO:0007351 coloboma of macula skos:exactMatch UMLS:C1852767 semapv:UnspecifiedMatching MONDO:0007351 coloboma of macula skos:exactMatch icd11.foundation:366058642 Coloboma of macula semapv:UnspecifiedMatching MONDO:0007352 renal coloboma syndrome skos:exactMatch DOID:0090006 renal coloboma syndrome semapv:UnspecifiedMatching MONDO:0007352 renal coloboma syndrome skos:exactMatch MEDGEN:339002 semapv:UnspecifiedMatching MONDO:0007352 renal coloboma syndrome skos:exactMatch NCIT:C123230 Renal Coloboma Syndrome semapv:UnspecifiedMatching MONDO:0007352 renal coloboma syndrome skos:exactMatch OMIM:120330 papillorenal syndrome semapv:UnspecifiedMatching MONDO:0007352 renal coloboma syndrome skos:exactMatch Orphanet:1475 Renal coloboma syndrome semapv:UnspecifiedMatching MONDO:0007352 renal coloboma syndrome skos:exactMatch SCTID:446449009 semapv:UnspecifiedMatching MONDO:0007352 renal coloboma syndrome skos:exactMatch UMLS:C1852759 semapv:UnspecifiedMatching MONDO:0007352 renal coloboma syndrome skos:exactMatch mesh:C537168 semapv:UnspecifiedMatching MONDO:0007353 coloboma of macula-brachydactyly type B syndrome skos:exactMatch MEDGEN:343882 semapv:UnspecifiedMatching MONDO:0007353 coloboma of macula-brachydactyly type B syndrome skos:exactMatch OMIM:120400 coloboma of macula with type B brachydactyly semapv:UnspecifiedMatching MONDO:0007353 coloboma of macula-brachydactyly type B syndrome skos:exactMatch Orphanet:1471 Coloboma of macula-brachydactyly type B syndrome semapv:UnspecifiedMatching MONDO:0007353 coloboma of macula-brachydactyly type B syndrome skos:exactMatch SCTID:717785002 semapv:UnspecifiedMatching MONDO:0007353 coloboma of macula-brachydactyly type B syndrome skos:exactMatch UMLS:C1852752 semapv:UnspecifiedMatching MONDO:0007353 coloboma of macula-brachydactyly type B syndrome skos:exactMatch mesh:C535969 semapv:UnspecifiedMatching MONDO:0007354 coloboma of optic nerve skos:exactMatch DOID:11975 coloboma of optic nerve semapv:UnspecifiedMatching MONDO:0007354 coloboma of optic nerve skos:exactMatch MEDGEN:57832 semapv:UnspecifiedMatching MONDO:0007354 coloboma of optic nerve skos:exactMatch OMIM:120430 coloboma of optic nerve semapv:UnspecifiedMatching MONDO:0007354 coloboma of optic nerve skos:exactMatch Orphanet:98947 Coloboma of optic disc semapv:UnspecifiedMatching MONDO:0007354 coloboma of optic nerve skos:exactMatch SCTID:17541006 semapv:UnspecifiedMatching MONDO:0007354 coloboma of optic nerve skos:exactMatch UMLS:C0155299 semapv:UnspecifiedMatching MONDO:0007354 coloboma of optic nerve skos:exactMatch icd11.foundation:592278969 Coloboma of optic disc semapv:UnspecifiedMatching MONDO:0007354 coloboma of optic nerve skos:exactMatch mesh:C535970 semapv:UnspecifiedMatching MONDO:0007355 uveal coloboma-cleft lip and palate-intellectual disability skos:exactMatch DOID:0111249 uveal coloboma-cleft lip and palate-intellectual disability semapv:UnspecifiedMatching MONDO:0007355 uveal coloboma-cleft lip and palate-intellectual disability skos:exactMatch MEDGEN:811762 semapv:UnspecifiedMatching MONDO:0007355 uveal coloboma-cleft lip and palate-intellectual disability skos:exactMatch OMIM:120433 coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual development semapv:UnspecifiedMatching MONDO:0007355 uveal coloboma-cleft lip and palate-intellectual disability skos:exactMatch Orphanet:1473 Uveal coloboma-cleft lip and palate-intellectual disability semapv:UnspecifiedMatching MONDO:0007355 uveal coloboma-cleft lip and palate-intellectual disability skos:exactMatch UMLS:C3805432 semapv:UnspecifiedMatching MONDO:0007355 uveal coloboma-cleft lip and palate-intellectual disability skos:exactMatch mesh:C535971 semapv:UnspecifiedMatching MONDO:0007356 Lynch syndrome 1 skos:exactMatch DOID:0070271 Lynch syndrome 1 semapv:UnspecifiedMatching MONDO:0007356 Lynch syndrome 1 skos:exactMatch MEDGEN:423615 semapv:UnspecifiedMatching MONDO:0007356 Lynch syndrome 1 skos:exactMatch NCIT:C6725 Lynch 1 Syndrome semapv:UnspecifiedMatching MONDO:0007356 Lynch syndrome 1 skos:exactMatch OMIM:120435 lynch syndrome 1 semapv:UnspecifiedMatching MONDO:0007356 Lynch syndrome 1 skos:exactMatch UMLS:C2936783 semapv:UnspecifiedMatching MONDO:0007356 Lynch syndrome 1 skos:exactMatch mesh:C537261 semapv:UnspecifiedMatching MONDO:0007357 colonic varices without portal hypertension skos:exactMatch MEDGEN:343875 semapv:UnspecifiedMatching MONDO:0007357 colonic varices without portal hypertension skos:exactMatch OMIM:120440 colonic varices without portal hypertension semapv:UnspecifiedMatching MONDO:0007357 colonic varices without portal hypertension skos:exactMatch UMLS:C1852721 semapv:UnspecifiedMatching MONDO:0007357 colonic varices without portal hypertension skos:exactMatch mesh:C565172 semapv:UnspecifiedMatching MONDO:0007358 comedones, familial Dyskeratotic skos:exactMatch MEDGEN:138018 semapv:UnspecifiedMatching MONDO:0007358 comedones, familial Dyskeratotic skos:exactMatch OMIM:120450 comedones, familial dyskeratotic semapv:UnspecifiedMatching MONDO:0007358 comedones, familial Dyskeratotic skos:exactMatch SCTID:254219004 semapv:UnspecifiedMatching MONDO:0007358 comedones, familial Dyskeratotic skos:exactMatch UMLS:C0345424 semapv:UnspecifiedMatching MONDO:0007358 comedones, familial Dyskeratotic skos:exactMatch mesh:C562838 semapv:UnspecifiedMatching MONDO:0007359 commissural lip pits skos:exactMatch MEDGEN:98001 semapv:UnspecifiedMatching MONDO:0007359 commissural lip pits skos:exactMatch OMIM:120500 commissural 51p pits semapv:UnspecifiedMatching MONDO:0007359 commissural lip pits skos:exactMatch SCTID:109550008 semapv:UnspecifiedMatching MONDO:0007359 commissural lip pits skos:exactMatch UMLS:C0399605 semapv:UnspecifiedMatching MONDO:0007360 branchiootic syndrome 2 skos:exactMatch MEDGEN:377737 semapv:UnspecifiedMatching MONDO:0007360 branchiootic syndrome 2 skos:exactMatch OMIM:120502 branchiootic syndrome 2 semapv:UnspecifiedMatching MONDO:0007360 branchiootic syndrome 2 skos:exactMatch UMLS:C1852718 semapv:UnspecifiedMatching MONDO:0007360 branchiootic syndrome 2 skos:exactMatch mesh:C565171 semapv:UnspecifiedMatching MONDO:0007361 C1 inhibitor deficiency skos:exactMatch DOID:0060002 C1 inhibitor deficiency semapv:UnspecifiedMatching MONDO:0007361 C1 inhibitor deficiency skos:exactMatch MEDGEN:343867 semapv:UnspecifiedMatching MONDO:0007361 C1 inhibitor deficiency skos:exactMatch OMIM:120790 complement component 4, partial deficiency of semapv:UnspecifiedMatching MONDO:0007361 C1 inhibitor deficiency skos:exactMatch UMLS:C1852700 semapv:UnspecifiedMatching MONDO:0007362 cone-rod dystrophy 2 skos:exactMatch DOID:0111005 cone-rod dystrophy 2 semapv:UnspecifiedMatching MONDO:0007362 cone-rod dystrophy 2 skos:exactMatch MEDGEN:483485 semapv:UnspecifiedMatching MONDO:0007362 cone-rod dystrophy 2 skos:exactMatch NCIT:C162399 Cone-Rod Dystrophy 2 semapv:UnspecifiedMatching MONDO:0007362 cone-rod dystrophy 2 skos:exactMatch OMIM:120970 cone-rod dystrophy 2 semapv:UnspecifiedMatching MONDO:0007362 cone-rod dystrophy 2 skos:exactMatch SCTID:80328002 semapv:UnspecifiedMatching MONDO:0007362 cone-rod dystrophy 2 skos:exactMatch UMLS:C3489532 semapv:UnspecifiedMatching MONDO:0007363 congenital contractural arachnodactyly skos:exactMatch DOID:0111595 congenital contractural arachnodactyly semapv:UnspecifiedMatching MONDO:0007363 congenital contractural arachnodactyly skos:exactMatch MEDGEN:67391 semapv:UnspecifiedMatching MONDO:0007363 congenital contractural arachnodactyly skos:exactMatch NCIT:C129865 Congenital Contractural Arachnodactyly semapv:UnspecifiedMatching MONDO:0007363 congenital contractural arachnodactyly skos:exactMatch OMIM:121050 contractural arachnodactyly, congenital semapv:UnspecifiedMatching MONDO:0007363 congenital contractural arachnodactyly skos:exactMatch Orphanet:115 Congenital contractural arachnodactyly semapv:UnspecifiedMatching MONDO:0007363 congenital contractural arachnodactyly skos:exactMatch SCTID:205821003 semapv:UnspecifiedMatching MONDO:0007363 congenital contractural arachnodactyly skos:exactMatch UMLS:C0220668 semapv:UnspecifiedMatching MONDO:0007363 congenital contractural arachnodactyly skos:exactMatch icd11.foundation:1376425921 Congenital contractural arachnodactyly semapv:UnspecifiedMatching MONDO:0007363 congenital contractural arachnodactyly skos:exactMatch mesh:C536211 semapv:UnspecifiedMatching MONDO:0007364 arthrogryposis, distal, type 2E skos:exactMatch MEDGEN:343844 semapv:UnspecifiedMatching MONDO:0007364 arthrogryposis, distal, type 2E skos:exactMatch OMIM:121070 arthrogryposis, distal, type 2e semapv:UnspecifiedMatching MONDO:0007364 arthrogryposis, distal, type 2E skos:exactMatch UMLS:C1852597 semapv:UnspecifiedMatching MONDO:0007364 arthrogryposis, distal, type 2E skos:exactMatch mesh:C535384 semapv:UnspecifiedMatching MONDO:0007365 seizures, benign familial neonatal, 1 skos:exactMatch MEDGEN:460425 semapv:UnspecifiedMatching MONDO:0007365 seizures, benign familial neonatal, 1 skos:exactMatch OMIM:121200 seizures, benign familial neonatal, 1 semapv:UnspecifiedMatching MONDO:0007365 seizures, benign familial neonatal, 1 skos:exactMatch UMLS:C3149074 semapv:UnspecifiedMatching MONDO:0007365 seizures, benign familial neonatal, 1 skos:exactMatch mesh:C567743 semapv:UnspecifiedMatching MONDO:0007366 seizures, benign familial neonatal, 2 skos:exactMatch MEDGEN:377707 semapv:UnspecifiedMatching MONDO:0007366 seizures, benign familial neonatal, 2 skos:exactMatch OMIM:121201 seizures, benign familial neonatal, 2 semapv:UnspecifiedMatching MONDO:0007366 seizures, benign familial neonatal, 2 skos:exactMatch UMLS:C1852581 semapv:UnspecifiedMatching MONDO:0007367 febrile seizures, familial, 1 skos:exactMatch DOID:0111307 familial febrile seizures 1 semapv:UnspecifiedMatching MONDO:0007367 febrile seizures, familial, 1 skos:exactMatch MEDGEN:338959 semapv:UnspecifiedMatching MONDO:0007367 febrile seizures, familial, 1 skos:exactMatch OMIM:121210 febrile seizures, familial, 1 semapv:UnspecifiedMatching MONDO:0007367 febrile seizures, familial, 1 skos:exactMatch SCTID:230432008 semapv:UnspecifiedMatching MONDO:0007367 febrile seizures, familial, 1 skos:exactMatch UMLS:C1852577 semapv:UnspecifiedMatching MONDO:0007367 febrile seizures, familial, 1 skos:exactMatch mesh:C565162 semapv:UnspecifiedMatching MONDO:0007368 familial benign copper deficiency skos:exactMatch MEDGEN:338958 semapv:UnspecifiedMatching MONDO:0007368 familial benign copper deficiency skos:exactMatch OMIM:121270 copper deficiency, familial benign semapv:UnspecifiedMatching MONDO:0007368 familial benign copper deficiency skos:exactMatch Orphanet:1551 Familial benign copper deficiency semapv:UnspecifiedMatching MONDO:0007368 familial benign copper deficiency skos:exactMatch SCTID:763531001 semapv:UnspecifiedMatching MONDO:0007368 familial benign copper deficiency skos:exactMatch UMLS:C1852576 semapv:UnspecifiedMatching MONDO:0007368 familial benign copper deficiency skos:exactMatch mesh:C535468 semapv:UnspecifiedMatching MONDO:0007369 hereditary coproporphyria skos:exactMatch DOID:13269 hereditary coproporphyria semapv:UnspecifiedMatching MONDO:0007369 hereditary coproporphyria skos:exactMatch MEDGEN:57931 semapv:UnspecifiedMatching MONDO:0007369 hereditary coproporphyria skos:exactMatch NCIT:C84759 Hereditary Coproporphyria semapv:UnspecifiedMatching MONDO:0007369 hereditary coproporphyria skos:exactMatch OMIM:121300 coproporphyria, hereditary semapv:UnspecifiedMatching MONDO:0007369 hereditary coproporphyria skos:exactMatch Orphanet:79273 Hereditary coproporphyria semapv:UnspecifiedMatching MONDO:0007369 hereditary coproporphyria skos:exactMatch SCTID:7425008 semapv:UnspecifiedMatching MONDO:0007369 hereditary coproporphyria skos:exactMatch UMLS:C0162531 semapv:UnspecifiedMatching MONDO:0007369 hereditary coproporphyria skos:exactMatch icd11.foundation:1365918274 Hereditary coproporphyria semapv:UnspecifiedMatching MONDO:0007369 hereditary coproporphyria skos:exactMatch mesh:D046349 semapv:UnspecifiedMatching MONDO:0007370 coracoclavicular joint, anomalous skos:exactMatch MEDGEN:377706 semapv:UnspecifiedMatching MONDO:0007370 coracoclavicular joint, anomalous skos:exactMatch OMIM:121350 coracoclavicular joint, anomalous semapv:UnspecifiedMatching MONDO:0007370 coracoclavicular joint, anomalous skos:exactMatch UMLS:C1852561 semapv:UnspecifiedMatching MONDO:0007370 coracoclavicular joint, anomalous skos:exactMatch mesh:C565161 semapv:UnspecifiedMatching MONDO:0007371 cornea guttata with anterior polar cataracts skos:exactMatch MEDGEN:338956 semapv:UnspecifiedMatching MONDO:0007371 cornea guttata with anterior polar cataracts skos:exactMatch OMIM:121390 cornea guttata with anterior polar cataracts semapv:UnspecifiedMatching MONDO:0007371 cornea guttata with anterior polar cataracts skos:exactMatch UMLS:C1852558 semapv:UnspecifiedMatching MONDO:0007371 cornea guttata with anterior polar cataracts skos:exactMatch mesh:C535471 semapv:UnspecifiedMatching MONDO:0007372 cornea plana 1, autosomal dominant skos:exactMatch MEDGEN:343837 semapv:UnspecifiedMatching MONDO:0007372 cornea plana 1, autosomal dominant skos:exactMatch OMIM:121400 cornea plana 1, autosomal dominant semapv:UnspecifiedMatching MONDO:0007372 cornea plana 1, autosomal dominant skos:exactMatch UMLS:C1852557 semapv:UnspecifiedMatching MONDO:0007372 cornea plana 1, autosomal dominant skos:exactMatch mesh:C565158 semapv:UnspecifiedMatching MONDO:0007373 corneal degeneration, ribbonlike, with deafness skos:exactMatch MEDGEN:377705 semapv:UnspecifiedMatching MONDO:0007373 corneal degeneration, ribbonlike, with deafness skos:exactMatch OMIM:121450 corneal degeneration, ribbonlike, with deafness semapv:UnspecifiedMatching MONDO:0007373 corneal degeneration, ribbonlike, with deafness skos:exactMatch UMLS:C1852556 semapv:UnspecifiedMatching MONDO:0007373 corneal degeneration, ribbonlike, with deafness skos:exactMatch mesh:C565157 semapv:UnspecifiedMatching MONDO:0007374 Schnyder corneal dystrophy skos:exactMatch DOID:0060456 Schnyder corneal dystrophy semapv:UnspecifiedMatching MONDO:0007374 Schnyder corneal dystrophy skos:exactMatch MEDGEN:124391 semapv:UnspecifiedMatching MONDO:0007374 Schnyder corneal dystrophy skos:exactMatch OMIM:121800 schnyder corneal dystrophy semapv:UnspecifiedMatching MONDO:0007374 Schnyder corneal dystrophy skos:exactMatch Orphanet:98967 Schnyder corneal dystrophy semapv:UnspecifiedMatching MONDO:0007374 Schnyder corneal dystrophy skos:exactMatch SCTID:419395007 semapv:UnspecifiedMatching MONDO:0007374 Schnyder corneal dystrophy skos:exactMatch UMLS:C0271287 semapv:UnspecifiedMatching MONDO:0007374 Schnyder corneal dystrophy skos:exactMatch mesh:C535475 semapv:UnspecifiedMatching MONDO:0007375 epithelial basement membrane dystrophy skos:exactMatch DOID:0060447 epithelial basement membrane dystrophy semapv:UnspecifiedMatching MONDO:0007375 epithelial basement membrane dystrophy skos:exactMatch MEDGEN:99275 semapv:UnspecifiedMatching MONDO:0007375 epithelial basement membrane dystrophy skos:exactMatch OMIM:121820 corneal dystrophy, epithelial basement membrane semapv:UnspecifiedMatching MONDO:0007375 epithelial basement membrane dystrophy skos:exactMatch Orphanet:98956 Epithelial basement membrane dystrophy semapv:UnspecifiedMatching MONDO:0007375 epithelial basement membrane dystrophy skos:exactMatch SCTID:373426005 semapv:UnspecifiedMatching MONDO:0007375 epithelial basement membrane dystrophy skos:exactMatch UMLS:C0521723 semapv:UnspecifiedMatching MONDO:0007375 epithelial basement membrane dystrophy skos:exactMatch mesh:C535477 semapv:UnspecifiedMatching MONDO:0007376 fleck corneal dystrophy skos:exactMatch DOID:0060448 Fleck corneal dystrophy semapv:UnspecifiedMatching MONDO:0007376 fleck corneal dystrophy skos:exactMatch MEDGEN:287065 semapv:UnspecifiedMatching MONDO:0007376 fleck corneal dystrophy skos:exactMatch OMIM:121850 corneal dystrophy, fleck semapv:UnspecifiedMatching MONDO:0007376 fleck corneal dystrophy skos:exactMatch Orphanet:98970 Fleck corneal dystrophy semapv:UnspecifiedMatching MONDO:0007376 fleck corneal dystrophy skos:exactMatch SCTID:417183007 semapv:UnspecifiedMatching MONDO:0007376 fleck corneal dystrophy skos:exactMatch UMLS:C1562113 semapv:UnspecifiedMatching MONDO:0007376 fleck corneal dystrophy skos:exactMatch icd11.foundation:607143324 Fleck corneal dystrophy semapv:UnspecifiedMatching MONDO:0007376 fleck corneal dystrophy skos:exactMatch mesh:C563256 semapv:UnspecifiedMatching MONDO:0007377 granular corneal dystrophy type I skos:exactMatch DOID:0080530 granular corneal dystrophy 1 semapv:UnspecifiedMatching MONDO:0007377 granular corneal dystrophy type I skos:exactMatch MEDGEN:351521 semapv:UnspecifiedMatching MONDO:0007377 granular corneal dystrophy type I skos:exactMatch OMIM:121900 corneal dystrophy, groenouw type 1 semapv:UnspecifiedMatching MONDO:0007377 granular corneal dystrophy type I skos:exactMatch Orphanet:98962 Granular corneal dystrophy type I semapv:UnspecifiedMatching MONDO:0007377 granular corneal dystrophy type I skos:exactMatch SCTID:419039007 semapv:UnspecifiedMatching MONDO:0007377 granular corneal dystrophy type I skos:exactMatch UMLS:C1641846 semapv:UnspecifiedMatching MONDO:0007377 granular corneal dystrophy type I skos:exactMatch mesh:C537304 semapv:UnspecifiedMatching MONDO:0007378 posterior polymorphous corneal dystrophy 1 skos:exactMatch DOID:0110855 posterior polymorphous corneal dystrophy 1 semapv:UnspecifiedMatching MONDO:0007378 posterior polymorphous corneal dystrophy 1 skos:exactMatch MEDGEN:343836 semapv:UnspecifiedMatching MONDO:0007378 posterior polymorphous corneal dystrophy 1 skos:exactMatch OMIM:122000 corneal dystrophy, posterior polymorphous, 1 semapv:UnspecifiedMatching MONDO:0007378 posterior polymorphous corneal dystrophy 1 skos:exactMatch SCTID:29504002 semapv:UnspecifiedMatching MONDO:0007378 posterior polymorphous corneal dystrophy 1 skos:exactMatch UMLS:C1852555 semapv:UnspecifiedMatching MONDO:0007379 Meesmann corneal dystrophy skos:exactMatch DOID:0060451 Meesmann corneal dystrophy semapv:UnspecifiedMatching MONDO:0007379 Meesmann corneal dystrophy skos:exactMatch MEDGEN:83283 semapv:UnspecifiedMatching MONDO:0007379 Meesmann corneal dystrophy skos:exactMatch NCIT:C84795 Meesmann Corneal Dystrophy semapv:UnspecifiedMatching MONDO:0007379 Meesmann corneal dystrophy skos:exactMatch OMIMPS:122100 Corneal dystrophy, Meesmann semapv:UnspecifiedMatching MONDO:0007379 Meesmann corneal dystrophy skos:exactMatch Orphanet:98954 Meesmann corneal dystrophy semapv:UnspecifiedMatching MONDO:0007379 Meesmann corneal dystrophy skos:exactMatch SCTID:1674008 semapv:UnspecifiedMatching MONDO:0007379 Meesmann corneal dystrophy skos:exactMatch UMLS:C0339277 semapv:UnspecifiedMatching MONDO:0007379 Meesmann corneal dystrophy skos:exactMatch mesh:D053559 semapv:UnspecifiedMatching MONDO:0007380 lattice corneal dystrophy type I skos:exactMatch MEDGEN:305533 semapv:UnspecifiedMatching MONDO:0007380 lattice corneal dystrophy type I skos:exactMatch OMIM:122200 corneal dystrophy, lattice type 1 semapv:UnspecifiedMatching MONDO:0007380 lattice corneal dystrophy type I skos:exactMatch Orphanet:98964 Lattice corneal dystrophy type I semapv:UnspecifiedMatching MONDO:0007380 lattice corneal dystrophy type I skos:exactMatch SCTID:419197009 semapv:UnspecifiedMatching MONDO:0007380 lattice corneal dystrophy type I skos:exactMatch UMLS:C1690006 semapv:UnspecifiedMatching MONDO:0007380 lattice corneal dystrophy type I skos:exactMatch mesh:C537881 semapv:UnspecifiedMatching MONDO:0007381 epithelial recurrent erosion dystrophy skos:exactMatch DOID:0070337 epithelial recurrent erosion dystrophy semapv:UnspecifiedMatching MONDO:0007381 epithelial recurrent erosion dystrophy skos:exactMatch MEDGEN:342263 semapv:UnspecifiedMatching MONDO:0007381 epithelial recurrent erosion dystrophy skos:exactMatch OMIM:122400 epithelial recurrent erosion dystrophy semapv:UnspecifiedMatching MONDO:0007381 epithelial recurrent erosion dystrophy skos:exactMatch Orphanet:293381 Epithelial recurrent erosion dystrophy semapv:UnspecifiedMatching MONDO:0007381 epithelial recurrent erosion dystrophy skos:exactMatch SCTID:715908008 semapv:UnspecifiedMatching MONDO:0007381 epithelial recurrent erosion dystrophy skos:exactMatch UMLS:C1852551 semapv:UnspecifiedMatching MONDO:0007381 epithelial recurrent erosion dystrophy skos:exactMatch icd11.foundation:1105690299 Epithelial recurrent erosion dystrophy semapv:UnspecifiedMatching MONDO:0007381 epithelial recurrent erosion dystrophy skos:exactMatch mesh:C565155 semapv:UnspecifiedMatching MONDO:0007382 Ramos-Arroyo syndrome skos:exactMatch MEDGEN:418932 semapv:UnspecifiedMatching MONDO:0007382 Ramos-Arroyo syndrome skos:exactMatch OMIM:122430 ramos-arroyo syndrome semapv:UnspecifiedMatching MONDO:0007382 Ramos-Arroyo syndrome skos:exactMatch Orphanet:1051 Ramos-Arroyo syndrome semapv:UnspecifiedMatching MONDO:0007382 Ramos-Arroyo syndrome skos:exactMatch UMLS:C2930866 semapv:UnspecifiedMatching MONDO:0007382 Ramos-Arroyo syndrome skos:exactMatch mesh:C535286 semapv:UnspecifiedMatching MONDO:0007383 Stern-Lubinsky-Durrie syndrome skos:exactMatch MEDGEN:342260 semapv:UnspecifiedMatching MONDO:0007383 Stern-Lubinsky-Durrie syndrome skos:exactMatch OMIM:122440 corneodermatoosseous syndrome semapv:UnspecifiedMatching MONDO:0007383 Stern-Lubinsky-Durrie syndrome skos:exactMatch Orphanet:3194 Corneodermatoosseous syndrome semapv:UnspecifiedMatching MONDO:0007383 Stern-Lubinsky-Durrie syndrome skos:exactMatch SCTID:723584003 semapv:UnspecifiedMatching MONDO:0007383 Stern-Lubinsky-Durrie syndrome skos:exactMatch UMLS:C1852542 semapv:UnspecifiedMatching MONDO:0007383 Stern-Lubinsky-Durrie syndrome skos:exactMatch icd11.foundation:1754695879 Stern-Lubinsky-Durrie syndrome semapv:UnspecifiedMatching MONDO:0007383 Stern-Lubinsky-Durrie syndrome skos:exactMatch mesh:C537488 semapv:UnspecifiedMatching MONDO:0007384 congenital trigeminal anesthesia skos:exactMatch MEDGEN:342259 semapv:UnspecifiedMatching MONDO:0007384 congenital trigeminal anesthesia skos:exactMatch OMIM:122450 corneal hypesthesia, familial semapv:UnspecifiedMatching MONDO:0007384 congenital trigeminal anesthesia skos:exactMatch Orphanet:231013 Congenital trigeminal anesthesia semapv:UnspecifiedMatching MONDO:0007384 congenital trigeminal anesthesia skos:exactMatch SCTID:763218005 semapv:UnspecifiedMatching MONDO:0007384 congenital trigeminal anesthesia skos:exactMatch UMLS:C1852541 semapv:UnspecifiedMatching MONDO:0007384 congenital trigeminal anesthesia skos:exactMatch mesh:C536440 semapv:UnspecifiedMatching MONDO:0007385 idiopathic spontaneous coronary artery dissection skos:exactMatch MEDGEN:377701 semapv:UnspecifiedMatching MONDO:0007385 idiopathic spontaneous coronary artery dissection skos:exactMatch OMIM:122455 coronary artery dissection, spontaneous semapv:UnspecifiedMatching MONDO:0007385 idiopathic spontaneous coronary artery dissection skos:exactMatch Orphanet:458718 Idiopathic spontaneous coronary artery dissection semapv:UnspecifiedMatching MONDO:0007385 idiopathic spontaneous coronary artery dissection skos:exactMatch UMLS:C1852540 semapv:UnspecifiedMatching MONDO:0007385 idiopathic spontaneous coronary artery dissection skos:exactMatch mesh:C565153 semapv:UnspecifiedMatching MONDO:0007386 obsolete human coronavirus sensitivity skos:exactMatch OMIM:122460 human coronavirus sensitivity semapv:UnspecifiedMatching MONDO:0007387 Cornelia de Lange syndrome 1 skos:exactMatch DOID:0080505 Cornelia de Lange syndrome 1 semapv:UnspecifiedMatching MONDO:0007387 Cornelia de Lange syndrome 1 skos:exactMatch MEDGEN:1645760 semapv:UnspecifiedMatching MONDO:0007387 Cornelia de Lange syndrome 1 skos:exactMatch OMIM:122470 cornelia lange lange syndrome 1 semapv:UnspecifiedMatching MONDO:0007387 Cornelia de Lange syndrome 1 skos:exactMatch SCTID:40354009 semapv:UnspecifiedMatching MONDO:0007387 Cornelia de Lange syndrome 1 skos:exactMatch UMLS:C4551851 semapv:UnspecifiedMatching MONDO:0007388 congenitally short costocoracoid ligament skos:exactMatch MEDGEN:342257 semapv:UnspecifiedMatching MONDO:0007388 congenitally short costocoracoid ligament skos:exactMatch OMIM:122580 costocoracoid ligament, congenitally short semapv:UnspecifiedMatching MONDO:0007388 congenitally short costocoracoid ligament skos:exactMatch Orphanet:2391 Congenitally short costocoracoid ligament semapv:UnspecifiedMatching MONDO:0007388 congenitally short costocoracoid ligament skos:exactMatch SCTID:725101002 semapv:UnspecifiedMatching MONDO:0007388 congenitally short costocoracoid ligament skos:exactMatch UMLS:C1852523 semapv:UnspecifiedMatching MONDO:0007388 congenitally short costocoracoid ligament skos:exactMatch mesh:C536448 semapv:UnspecifiedMatching MONDO:0007389 spondylocostal dysostosis 5 skos:exactMatch DOID:0112363 spondylocostal dysostosis 5 semapv:UnspecifiedMatching MONDO:0007389 spondylocostal dysostosis 5 skos:exactMatch MEDGEN:901825 semapv:UnspecifiedMatching MONDO:0007389 spondylocostal dysostosis 5 skos:exactMatch OMIM:122600 spondylocostal dysostosis 5 semapv:UnspecifiedMatching MONDO:0007389 spondylocostal dysostosis 5 skos:exactMatch UMLS:C4083048 semapv:UnspecifiedMatching MONDO:0007390 coumarin resistance skos:exactMatch DOID:0080665 warfarin resistance semapv:UnspecifiedMatching MONDO:0007390 coumarin resistance skos:exactMatch MEDGEN:148193 semapv:UnspecifiedMatching MONDO:0007390 coumarin resistance skos:exactMatch OMIM:122700 coumarin resistance semapv:UnspecifiedMatching MONDO:0007390 coumarin resistance skos:exactMatch SCTID:726543008 semapv:UnspecifiedMatching MONDO:0007390 coumarin resistance skos:exactMatch UMLS:C0750384 semapv:UnspecifiedMatching MONDO:0007390 coumarin resistance skos:exactMatch mesh:C563039 semapv:UnspecifiedMatching MONDO:0007391 coxa vara skos:exactMatch EFO:1001298 semapv:UnspecifiedMatching MONDO:0007391 coxa vara skos:exactMatch MEDGEN:1790477 semapv:UnspecifiedMatching MONDO:0007391 coxa vara skos:exactMatch OMIM:122750 coxa vara semapv:UnspecifiedMatching MONDO:0007391 coxa vara skos:exactMatch UMLS:C5551440 semapv:UnspecifiedMatching MONDO:0007391 coxa vara skos:exactMatch mesh:D060905 semapv:UnspecifiedMatching MONDO:0007392 coxoauricular syndrome skos:exactMatch MEDGEN:343827 semapv:UnspecifiedMatching MONDO:0007392 coxoauricular syndrome skos:exactMatch OMIM:122780 coxoauricular syndrome semapv:UnspecifiedMatching MONDO:0007392 coxoauricular syndrome skos:exactMatch Orphanet:1508 Coxoauricular syndrome semapv:UnspecifiedMatching MONDO:0007392 coxoauricular syndrome skos:exactMatch SCTID:732248005 semapv:UnspecifiedMatching MONDO:0007392 coxoauricular syndrome skos:exactMatch UMLS:C1852513 semapv:UnspecifiedMatching MONDO:0007392 coxoauricular syndrome skos:exactMatch icd11.foundation:649449912 Coxoauricular syndrome semapv:UnspecifiedMatching MONDO:0007392 coxoauricular syndrome skos:exactMatch mesh:C565148 semapv:UnspecifiedMatching MONDO:0007393 cranioacrofacial syndrome skos:exactMatch MEDGEN:338947 semapv:UnspecifiedMatching MONDO:0007393 cranioacrofacial syndrome skos:exactMatch OMIM:122850 cranioacrofacial syndrome semapv:UnspecifiedMatching MONDO:0007393 cranioacrofacial syndrome skos:exactMatch UMLS:C1852512 semapv:UnspecifiedMatching MONDO:0007393 cranioacrofacial syndrome skos:exactMatch mesh:C565147 semapv:UnspecifiedMatching MONDO:0007395 craniofacial-deafness-hand syndrome skos:exactMatch DOID:0111336 craniofacial-deafness-hand syndrome semapv:UnspecifiedMatching MONDO:0007395 craniofacial-deafness-hand syndrome skos:exactMatch MEDGEN:377694 semapv:UnspecifiedMatching MONDO:0007395 craniofacial-deafness-hand syndrome skos:exactMatch OMIM:122880 craniofacial-deafness-hand syndrome semapv:UnspecifiedMatching MONDO:0007395 craniofacial-deafness-hand syndrome skos:exactMatch Orphanet:1529 Craniofacial-deafness-hand syndrome semapv:UnspecifiedMatching MONDO:0007395 craniofacial-deafness-hand syndrome skos:exactMatch SCTID:702362004 semapv:UnspecifiedMatching MONDO:0007395 craniofacial-deafness-hand syndrome skos:exactMatch UMLS:C1852510 semapv:UnspecifiedMatching MONDO:0007395 craniofacial-deafness-hand syndrome skos:exactMatch icd11.foundation:1355682887 Craniofacial-deafness-hand syndrome semapv:UnspecifiedMatching MONDO:0007395 craniofacial-deafness-hand syndrome skos:exactMatch mesh:C536453 semapv:UnspecifiedMatching MONDO:0007396 dysostosis, Stanescu type skos:exactMatch MEDGEN:140931 semapv:UnspecifiedMatching MONDO:0007396 dysostosis, Stanescu type skos:exactMatch OMIM:122900 craniofacial dysostosis with diaphyseal hyperplasia semapv:UnspecifiedMatching MONDO:0007396 dysostosis, Stanescu type skos:exactMatch Orphanet:1798 Craniofacial dysostosis-diaphyseal hyperplasia syndrome semapv:UnspecifiedMatching MONDO:0007396 dysostosis, Stanescu type skos:exactMatch SCTID:254124008 semapv:UnspecifiedMatching MONDO:0007396 dysostosis, Stanescu type skos:exactMatch UMLS:C0432263 semapv:UnspecifiedMatching MONDO:0007396 dysostosis, Stanescu type skos:exactMatch mesh:C562974 semapv:UnspecifiedMatching MONDO:0007397 craniometaphyseal dysplasia, autosomal dominant skos:exactMatch DOID:0080801 autosomal dominant craniometaphyseal dysplasia semapv:UnspecifiedMatching MONDO:0007397 craniometaphyseal dysplasia, autosomal dominant skos:exactMatch MEDGEN:338945 semapv:UnspecifiedMatching MONDO:0007397 craniometaphyseal dysplasia, autosomal dominant skos:exactMatch OMIM:123000 craniometaphyseal dysplasia, autosomal dominant semapv:UnspecifiedMatching MONDO:0007397 craniometaphyseal dysplasia, autosomal dominant skos:exactMatch UMLS:C1852502 semapv:UnspecifiedMatching MONDO:0007397 craniometaphyseal dysplasia, autosomal dominant skos:exactMatch mesh:C565145 semapv:UnspecifiedMatching MONDO:0007398 craniorhiny skos:exactMatch MEDGEN:338944 semapv:UnspecifiedMatching MONDO:0007398 craniorhiny skos:exactMatch OMIM:123050 craniorhiny semapv:UnspecifiedMatching MONDO:0007398 craniorhiny skos:exactMatch Orphanet:157832 Craniorhiny semapv:UnspecifiedMatching MONDO:0007398 craniorhiny skos:exactMatch UMLS:C1852501 semapv:UnspecifiedMatching MONDO:0007398 craniorhiny skos:exactMatch icd11.foundation:853619848 Craniorhiny semapv:UnspecifiedMatching MONDO:0007398 craniorhiny skos:exactMatch mesh:C565144 semapv:UnspecifiedMatching MONDO:0007399 TWIST1-related craniosynostosis skos:exactMatch DOID:0061010 craniosynostosis 1 semapv:UnspecifiedMatching MONDO:0007399 TWIST1-related craniosynostosis skos:exactMatch MEDGEN:1646646 semapv:UnspecifiedMatching MONDO:0007399 TWIST1-related craniosynostosis skos:exactMatch OMIM:123100 craniosynostosis 1 semapv:UnspecifiedMatching MONDO:0007399 TWIST1-related craniosynostosis skos:exactMatch SCTID:57219006 semapv:UnspecifiedMatching MONDO:0007399 TWIST1-related craniosynostosis skos:exactMatch UMLS:C4551902 semapv:UnspecifiedMatching MONDO:0007400 Jackson-Weiss syndrome skos:exactMatch DOID:0111337 Jackson-Weiss syndrome semapv:UnspecifiedMatching MONDO:0007400 Jackson-Weiss syndrome skos:exactMatch MEDGEN:208653 semapv:UnspecifiedMatching MONDO:0007400 Jackson-Weiss syndrome skos:exactMatch NCIT:C123814 Jackson-Weiss Syndrome semapv:UnspecifiedMatching MONDO:0007400 Jackson-Weiss syndrome skos:exactMatch OMIM:123150 jackson-weiss syndrome semapv:UnspecifiedMatching MONDO:0007400 Jackson-Weiss syndrome skos:exactMatch Orphanet:1540 Jackson-Weiss syndrome semapv:UnspecifiedMatching MONDO:0007400 Jackson-Weiss syndrome skos:exactMatch SCTID:709105005 semapv:UnspecifiedMatching MONDO:0007400 Jackson-Weiss syndrome skos:exactMatch UMLS:C0795998 semapv:UnspecifiedMatching MONDO:0007400 Jackson-Weiss syndrome skos:exactMatch mesh:C537559 semapv:UnspecifiedMatching MONDO:0007401 craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome skos:exactMatch MEDGEN:325006 semapv:UnspecifiedMatching MONDO:0007401 craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome skos:exactMatch OMIM:123155 hydrocephalus, autosomal dominant semapv:UnspecifiedMatching MONDO:0007401 craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome skos:exactMatch Orphanet:1538 Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome semapv:UnspecifiedMatching MONDO:0007401 craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome skos:exactMatch SCTID:720813007 semapv:UnspecifiedMatching MONDO:0007401 craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome skos:exactMatch UMLS:C1838347 semapv:UnspecifiedMatching MONDO:0007401 craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome skos:exactMatch mesh:C563973 semapv:UnspecifiedMatching MONDO:0007402 creatine phosphokinase, elevated serum skos:exactMatch MEDGEN:1651776 semapv:UnspecifiedMatching MONDO:0007402 creatine phosphokinase, elevated serum skos:exactMatch MEDGEN:347475 semapv:UnspecifiedMatching MONDO:0007402 creatine phosphokinase, elevated serum skos:exactMatch OMIM:123320 creatine phosphokinase, elevated serum semapv:UnspecifiedMatching MONDO:0007402 creatine phosphokinase, elevated serum skos:exactMatch UMLS:C1857533 semapv:UnspecifiedMatching MONDO:0007402 creatine phosphokinase, elevated serum skos:exactMatch UMLS:C4724975 semapv:UnspecifiedMatching MONDO:0007403 inherited Creutzfeldt-Jakob disease skos:exactMatch MEDGEN:155837 semapv:UnspecifiedMatching MONDO:0007403 inherited Creutzfeldt-Jakob disease skos:exactMatch OMIM:123400 creutzfeldt-jakob disease semapv:UnspecifiedMatching MONDO:0007403 inherited Creutzfeldt-Jakob disease skos:exactMatch Orphanet:282166 Inherited Creutzfeldt-Jakob disease semapv:UnspecifiedMatching MONDO:0007403 inherited Creutzfeldt-Jakob disease skos:exactMatch SCTID:715807002 semapv:UnspecifiedMatching MONDO:0007403 inherited Creutzfeldt-Jakob disease skos:exactMatch UMLS:C0751254 semapv:UnspecifiedMatching MONDO:0007403 inherited Creutzfeldt-Jakob disease skos:exactMatch icd11.foundation:607607042 Genetic Creutzfeldt-Jakob disease semapv:UnspecifiedMatching MONDO:0007404 Cri-du-chat syndrome skos:exactMatch DOID:12580 Cri-Du-Chat syndrome semapv:UnspecifiedMatching MONDO:0007404 Cri-du-chat syndrome skos:exactMatch MEDGEN:41345 semapv:UnspecifiedMatching MONDO:0007404 Cri-du-chat syndrome skos:exactMatch NCIT:C34518 Cri du Chat Syndrome semapv:UnspecifiedMatching MONDO:0007404 Cri-du-chat syndrome skos:exactMatch OMIM:123450 cri-du-chat syndrome semapv:UnspecifiedMatching MONDO:0007404 Cri-du-chat syndrome skos:exactMatch Orphanet:281 Monosomy 5p syndrome semapv:UnspecifiedMatching MONDO:0007404 Cri-du-chat syndrome skos:exactMatch SCTID:70173007 semapv:UnspecifiedMatching MONDO:0007404 Cri-du-chat syndrome skos:exactMatch UMLS:C0010314 semapv:UnspecifiedMatching MONDO:0007404 Cri-du-chat syndrome skos:exactMatch icd11.foundation:620584190 Cri-du-chat syndrome semapv:UnspecifiedMatching MONDO:0007404 Cri-du-chat syndrome skos:exactMatch mesh:D003410 semapv:UnspecifiedMatching MONDO:0007405 Crouzon syndrome skos:exactMatch DOID:2339 Crouzon syndrome semapv:UnspecifiedMatching MONDO:0007405 Crouzon syndrome skos:exactMatch MEDGEN:1162 semapv:UnspecifiedMatching MONDO:0007405 Crouzon syndrome skos:exactMatch NCIT:C84653 Craniofacial Dysostosis semapv:UnspecifiedMatching MONDO:0007405 Crouzon syndrome skos:exactMatch OMIM:123500 crouzon syndrome semapv:UnspecifiedMatching MONDO:0007405 Crouzon syndrome skos:exactMatch Orphanet:207 Crouzon syndrome semapv:UnspecifiedMatching MONDO:0007405 Crouzon syndrome skos:exactMatch SCTID:28861008 semapv:UnspecifiedMatching MONDO:0007405 Crouzon syndrome skos:exactMatch UMLS:C0010273 semapv:UnspecifiedMatching MONDO:0007405 Crouzon syndrome skos:exactMatch icd11.foundation:1535725821 Crouzon disease semapv:UnspecifiedMatching MONDO:0007405 Crouzon syndrome skos:exactMatch mesh:D003394 semapv:UnspecifiedMatching MONDO:0007406 cryofibrinogenemia, familial primary skos:exactMatch MEDGEN:377679 semapv:UnspecifiedMatching MONDO:0007406 cryofibrinogenemia, familial primary skos:exactMatch OMIM:123540 cryofibrinogenemia, familial primary semapv:UnspecifiedMatching MONDO:0007406 cryofibrinogenemia, familial primary skos:exactMatch UMLS:C1852457 semapv:UnspecifiedMatching MONDO:0007406 cryofibrinogenemia, familial primary skos:exactMatch mesh:C565142 semapv:UnspecifiedMatching MONDO:0007407 Cryoglobulinemic vasculitis skos:exactMatch MEDGEN:343814 semapv:UnspecifiedMatching MONDO:0007407 Cryoglobulinemic vasculitis skos:exactMatch OMIM:123550 cryoglobulinemia, familial mixed semapv:UnspecifiedMatching MONDO:0007407 Cryoglobulinemic vasculitis skos:exactMatch Orphanet:91138 Cryoglobulinemic vasculitis semapv:UnspecifiedMatching MONDO:0007407 Cryoglobulinemic vasculitis skos:exactMatch SCTID:190815001 semapv:UnspecifiedMatching MONDO:0007407 Cryoglobulinemic vasculitis skos:exactMatch UMLS:C1852456 semapv:UnspecifiedMatching MONDO:0007407 Cryoglobulinemic vasculitis skos:exactMatch icd11.foundation:55133785 Cryoglobulinaemic vasculitis semapv:UnspecifiedMatching MONDO:0007407 Cryoglobulinemic vasculitis skos:exactMatch mesh:C565141 semapv:UnspecifiedMatching MONDO:0007408 cryptotia, familial skos:exactMatch MEDGEN:342243 semapv:UnspecifiedMatching MONDO:0007408 cryptotia, familial skos:exactMatch OMIM:123557 cryptotia, familial semapv:UnspecifiedMatching MONDO:0007408 cryptotia, familial skos:exactMatch UMLS:C1852455 semapv:UnspecifiedMatching MONDO:0007408 cryptotia, familial skos:exactMatch mesh:C565140 semapv:UnspecifiedMatching MONDO:0007409 cryptomicrotia-brachydactyly-excess fingertip arch syndrome skos:exactMatch MEDGEN:377678 semapv:UnspecifiedMatching MONDO:0007409 cryptomicrotia-brachydactyly-excess fingertip arch syndrome skos:exactMatch OMIM:123560 cryptomicrotia-brachydactyly syndrome semapv:UnspecifiedMatching MONDO:0007409 cryptomicrotia-brachydactyly-excess fingertip arch syndrome skos:exactMatch Orphanet:1547 Cryptomicrotia-brachydactyly-excess fingertip arch syndrome semapv:UnspecifiedMatching MONDO:0007409 cryptomicrotia-brachydactyly-excess fingertip arch syndrome skos:exactMatch SCTID:725096002 semapv:UnspecifiedMatching MONDO:0007409 cryptomicrotia-brachydactyly-excess fingertip arch syndrome skos:exactMatch UMLS:C1852454 semapv:UnspecifiedMatching MONDO:0007409 cryptomicrotia-brachydactyly-excess fingertip arch syndrome skos:exactMatch mesh:C536219 semapv:UnspecifiedMatching MONDO:0007410 isolated cryptophthalmia skos:exactMatch DOID:0111717 isolated cryptophthalmia semapv:UnspecifiedMatching MONDO:0007410 isolated cryptophthalmia skos:exactMatch MEDGEN:342242 semapv:UnspecifiedMatching MONDO:0007410 isolated cryptophthalmia skos:exactMatch OMIM:123570 cryptophthalmos, unilateral or bilateral, isolated semapv:UnspecifiedMatching MONDO:0007410 isolated cryptophthalmia skos:exactMatch Orphanet:91396 Isolated cryptophthalmia semapv:UnspecifiedMatching MONDO:0007410 isolated cryptophthalmia skos:exactMatch SCTID:718691008 semapv:UnspecifiedMatching MONDO:0007410 isolated cryptophthalmia skos:exactMatch UMLS:C1852453 semapv:UnspecifiedMatching MONDO:0007410 isolated cryptophthalmia skos:exactMatch mesh:C565138 semapv:UnspecifiedMatching MONDO:0007411 cutis laxa, autosomal dominant 1 skos:exactMatch DOID:0070130 autosomal dominant cutis laxa 1 semapv:UnspecifiedMatching MONDO:0007411 cutis laxa, autosomal dominant 1 skos:exactMatch MEDGEN:478169 semapv:UnspecifiedMatching MONDO:0007411 cutis laxa, autosomal dominant 1 skos:exactMatch OMIM:123700 cutis laxa, autosomal dominant 1 semapv:UnspecifiedMatching MONDO:0007411 cutis laxa, autosomal dominant 1 skos:exactMatch UMLS:C3276539 semapv:UnspecifiedMatching MONDO:0007412 Beare-Stevenson cutis gyrata syndrome skos:exactMatch DOID:0050660 Beare-Stevenson cutis gyrata syndrome semapv:UnspecifiedMatching MONDO:0007412 Beare-Stevenson cutis gyrata syndrome skos:exactMatch MEDGEN:377668 semapv:UnspecifiedMatching MONDO:0007412 Beare-Stevenson cutis gyrata syndrome skos:exactMatch NCIT:C123813 Beare-Stevenson Cutis Gyrata Syndrome semapv:UnspecifiedMatching MONDO:0007412 Beare-Stevenson cutis gyrata syndrome skos:exactMatch OMIM:123790 beare-stevenson cutis gyrata syndrome semapv:UnspecifiedMatching MONDO:0007412 Beare-Stevenson cutis gyrata syndrome skos:exactMatch Orphanet:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome semapv:UnspecifiedMatching MONDO:0007412 Beare-Stevenson cutis gyrata syndrome skos:exactMatch SCTID:703528008 semapv:UnspecifiedMatching MONDO:0007412 Beare-Stevenson cutis gyrata syndrome skos:exactMatch UMLS:C1852406 semapv:UnspecifiedMatching MONDO:0007412 Beare-Stevenson cutis gyrata syndrome skos:exactMatch icd11.foundation:947865461 Beare-Stevenson cutis gyrata syndrome semapv:UnspecifiedMatching MONDO:0007412 Beare-Stevenson cutis gyrata syndrome skos:exactMatch mesh:C565129 semapv:UnspecifiedMatching MONDO:0007413 Cyprus facial-neuromusculoskeletal syndrome skos:exactMatch MEDGEN:343800 semapv:UnspecifiedMatching MONDO:0007413 Cyprus facial-neuromusculoskeletal syndrome skos:exactMatch OMIM:123853 cyprus facial neuromusculoskeletal syndrome semapv:UnspecifiedMatching MONDO:0007413 Cyprus facial-neuromusculoskeletal syndrome skos:exactMatch Orphanet:2674 Cyprus facial-neuromusculoskeletal syndrome semapv:UnspecifiedMatching MONDO:0007413 Cyprus facial-neuromusculoskeletal syndrome skos:exactMatch SCTID:732261005 semapv:UnspecifiedMatching MONDO:0007413 Cyprus facial-neuromusculoskeletal syndrome skos:exactMatch UMLS:C1852396 semapv:UnspecifiedMatching MONDO:0007413 Cyprus facial-neuromusculoskeletal syndrome skos:exactMatch mesh:C536229 semapv:UnspecifiedMatching MONDO:0007414 Gorham-Stout disease skos:exactMatch MEDGEN:45248 semapv:UnspecifiedMatching MONDO:0007414 Gorham-Stout disease skos:exactMatch OMIM:123880 cystic angiomatosis of bone, diffuse semapv:UnspecifiedMatching MONDO:0007414 Gorham-Stout disease skos:exactMatch Orphanet:73 Gorham-Stout disease semapv:UnspecifiedMatching MONDO:0007414 Gorham-Stout disease skos:exactMatch SCTID:1515008 semapv:UnspecifiedMatching MONDO:0007414 Gorham-Stout disease skos:exactMatch UMLS:C0029438 semapv:UnspecifiedMatching MONDO:0007414 Gorham-Stout disease skos:exactMatch icd11.foundation:1318015458 Gorham-Stout disease semapv:UnspecifiedMatching MONDO:0007415 mitochondrial complex III deficiency nuclear type 1 skos:exactMatch DOID:0080111 mitochondrial complex III deficiency nuclear type 1 semapv:UnspecifiedMatching MONDO:0007415 mitochondrial complex III deficiency nuclear type 1 skos:exactMatch MEDGEN:762097 semapv:UnspecifiedMatching MONDO:0007415 mitochondrial complex III deficiency nuclear type 1 skos:exactMatch OMIM:124000 mitochondrial complex 3 deficiency, nuclear type 1 semapv:UnspecifiedMatching MONDO:0007415 mitochondrial complex III deficiency nuclear type 1 skos:exactMatch UMLS:C3541471 semapv:UnspecifiedMatching MONDO:0007415 mitochondrial complex III deficiency nuclear type 1 skos:exactMatch mesh:C565128 semapv:UnspecifiedMatching MONDO:0007416 Balkan nephropathy skos:exactMatch DOID:3052 Balkan nephropathy semapv:UnspecifiedMatching MONDO:0007416 Balkan nephropathy skos:exactMatch EFO:0007164 semapv:UnspecifiedMatching MONDO:0007416 Balkan nephropathy skos:exactMatch ICD10CM:N15.0 Balkan nephropathy semapv:UnspecifiedMatching MONDO:0007416 Balkan nephropathy skos:exactMatch MEDGEN:495 semapv:UnspecifiedMatching MONDO:0007416 Balkan nephropathy skos:exactMatch NCIT:C123025 Aristolochic Acid Nephropathy semapv:UnspecifiedMatching MONDO:0007416 Balkan nephropathy skos:exactMatch OMIM:124100 danubian endemic familial nephropathy semapv:UnspecifiedMatching MONDO:0007416 Balkan nephropathy skos:exactMatch SCTID:26121002 semapv:UnspecifiedMatching MONDO:0007416 Balkan nephropathy skos:exactMatch UMLS:C0004698 semapv:UnspecifiedMatching MONDO:0007416 Balkan nephropathy skos:exactMatch icd11.foundation:18497836 Balkan nephropathy semapv:UnspecifiedMatching MONDO:0007416 Balkan nephropathy skos:exactMatch mesh:D001449 semapv:UnspecifiedMatching MONDO:0007417 Darier disease skos:exactMatch DOID:2734 keratosis follicularis semapv:UnspecifiedMatching MONDO:0007417 Darier disease skos:exactMatch MEDGEN:5956 semapv:UnspecifiedMatching MONDO:0007417 Darier disease skos:exactMatch NCIT:C84665 Darier Disease semapv:UnspecifiedMatching MONDO:0007417 Darier disease skos:exactMatch OMIM:124200 darier-white disease semapv:UnspecifiedMatching MONDO:0007417 Darier disease skos:exactMatch Orphanet:218 Darier disease semapv:UnspecifiedMatching MONDO:0007417 Darier disease skos:exactMatch SCTID:48611009 semapv:UnspecifiedMatching MONDO:0007417 Darier disease skos:exactMatch UMLS:C0022595 semapv:UnspecifiedMatching MONDO:0007417 Darier disease skos:exactMatch icd11.foundation:643994486 Darier disease semapv:UnspecifiedMatching MONDO:0007417 Darier disease skos:exactMatch mesh:D007644 semapv:UnspecifiedMatching MONDO:0007418 Darwinian tubercle of pinna skos:exactMatch MEDGEN:343772 semapv:UnspecifiedMatching MONDO:0007418 Darwinian tubercle of pinna skos:exactMatch OMIM:124300 darwinian tubercle of pinna semapv:UnspecifiedMatching MONDO:0007418 Darwinian tubercle of pinna skos:exactMatch UMLS:C1852294 semapv:UnspecifiedMatching MONDO:0007420 autosomal dominant deafness - onychodystrophy syndrome skos:exactMatch DOID:0080720 autosomal dominant congenital deafness with onychodystrophy semapv:UnspecifiedMatching MONDO:0007420 autosomal dominant deafness - onychodystrophy syndrome skos:exactMatch MEDGEN:382676 semapv:UnspecifiedMatching MONDO:0007420 autosomal dominant deafness - onychodystrophy syndrome skos:exactMatch OMIM:124480 deafness, congenital, with onychodystrophy, autosomal dominant semapv:UnspecifiedMatching MONDO:0007420 autosomal dominant deafness - onychodystrophy syndrome skos:exactMatch Orphanet:79499 Autosomal dominant deafness-onychodystrophy syndrome semapv:UnspecifiedMatching MONDO:0007420 autosomal dominant deafness - onychodystrophy syndrome skos:exactMatch UMLS:C2675730 semapv:UnspecifiedMatching MONDO:0007421 deafness-ear malformation-facial palsy syndrome skos:exactMatch MEDGEN:338900 semapv:UnspecifiedMatching MONDO:0007421 deafness-ear malformation-facial palsy syndrome skos:exactMatch OMIM:124490 deafness, conductive stapedial, with ear malformation and facial palsy semapv:UnspecifiedMatching MONDO:0007421 deafness-ear malformation-facial palsy syndrome skos:exactMatch Orphanet:3232 Deafness-ear malformation-facial palsy syndrome semapv:UnspecifiedMatching MONDO:0007421 deafness-ear malformation-facial palsy syndrome skos:exactMatch SCTID:716243005 semapv:UnspecifiedMatching MONDO:0007421 deafness-ear malformation-facial palsy syndrome skos:exactMatch UMLS:C1852292 semapv:UnspecifiedMatching MONDO:0007421 deafness-ear malformation-facial palsy syndrome skos:exactMatch mesh:C565123 semapv:UnspecifiedMatching MONDO:0007422 keratoderma hereditarium mutilans skos:exactMatch DOID:0111339 Vohwinkel syndrome semapv:UnspecifiedMatching MONDO:0007422 keratoderma hereditarium mutilans skos:exactMatch MEDGEN:78579 semapv:UnspecifiedMatching MONDO:0007422 keratoderma hereditarium mutilans skos:exactMatch OMIM:124500 vohwinkel syndrome semapv:UnspecifiedMatching MONDO:0007422 keratoderma hereditarium mutilans skos:exactMatch Orphanet:494 Keratoderma hereditarium mutilans semapv:UnspecifiedMatching MONDO:0007422 keratoderma hereditarium mutilans skos:exactMatch SCTID:24559001 semapv:UnspecifiedMatching MONDO:0007422 keratoderma hereditarium mutilans skos:exactMatch UMLS:C0265964 semapv:UnspecifiedMatching MONDO:0007422 keratoderma hereditarium mutilans skos:exactMatch mesh:C536457 semapv:UnspecifiedMatching MONDO:0007423 deafness, mid-tone neural skos:exactMatch MEDGEN:338897 semapv:UnspecifiedMatching MONDO:0007423 deafness, mid-tone neural skos:exactMatch OMIM:124700 deafness, mid-tone neural semapv:UnspecifiedMatching MONDO:0007423 deafness, mid-tone neural skos:exactMatch UMLS:C1852283 semapv:UnspecifiedMatching MONDO:0007423 deafness, mid-tone neural skos:exactMatch mesh:C565122 semapv:UnspecifiedMatching MONDO:0007424 autosomal dominant nonsyndromic hearing loss 1 skos:exactMatch DOID:0110541 autosomal dominant nonsyndromic deafness 1 semapv:UnspecifiedMatching MONDO:0007424 autosomal dominant nonsyndromic hearing loss 1 skos:exactMatch MEDGEN:343767 semapv:UnspecifiedMatching MONDO:0007424 autosomal dominant nonsyndromic hearing loss 1 skos:exactMatch OMIM:124900 deafness, autosomal dominant 1, with or without thrombocytopenia semapv:UnspecifiedMatching MONDO:0007424 autosomal dominant nonsyndromic hearing loss 1 skos:exactMatch UMLS:C1852282 semapv:UnspecifiedMatching MONDO:0007424 autosomal dominant nonsyndromic hearing loss 1 skos:exactMatch mesh:C565121 semapv:UnspecifiedMatching MONDO:0007425 deafness, sensorineural, with peripheral neuropathy and arterial disease skos:exactMatch MEDGEN:343766 semapv:UnspecifiedMatching MONDO:0007425 deafness, sensorineural, with peripheral neuropathy and arterial disease skos:exactMatch OMIM:124950 deafness, sensorineural, with peripheral neuropathy and arterial disease semapv:UnspecifiedMatching MONDO:0007425 deafness, sensorineural, with peripheral neuropathy and arterial disease skos:exactMatch UMLS:C1852280 semapv:UnspecifiedMatching MONDO:0007425 deafness, sensorineural, with peripheral neuropathy and arterial disease skos:exactMatch mesh:C565120 semapv:UnspecifiedMatching MONDO:0007426 deafness, unilateral skos:exactMatch MEDGEN:435850 semapv:UnspecifiedMatching MONDO:0007426 deafness, unilateral skos:exactMatch OMIM:125000 deafness, unilateral semapv:UnspecifiedMatching MONDO:0007426 deafness, unilateral skos:exactMatch UMLS:C2607947 semapv:UnspecifiedMatching MONDO:0007426 deafness, unilateral skos:exactMatch mesh:C567079 semapv:UnspecifiedMatching MONDO:0007427 deafness with anhidrotic ectodermal dysplasia skos:exactMatch MEDGEN:342202 semapv:UnspecifiedMatching MONDO:0007427 deafness with anhidrotic ectodermal dysplasia skos:exactMatch OMIM:125050 deafness with anhidrotic ectodermal dysplasia semapv:UnspecifiedMatching MONDO:0007427 deafness with anhidrotic ectodermal dysplasia skos:exactMatch UMLS:C1852279 semapv:UnspecifiedMatching MONDO:0007427 deafness with anhidrotic ectodermal dysplasia skos:exactMatch mesh:C565119 semapv:UnspecifiedMatching MONDO:0007428 deafness-craniofacial syndrome skos:exactMatch MEDGEN:342201 semapv:UnspecifiedMatching MONDO:0007428 deafness-craniofacial syndrome skos:exactMatch OMIM:125230 deafness-craniofacial syndrome semapv:UnspecifiedMatching MONDO:0007428 deafness-craniofacial syndrome skos:exactMatch Orphanet:3241 Deafness-craniofacial syndrome semapv:UnspecifiedMatching MONDO:0007428 deafness-craniofacial syndrome skos:exactMatch SCTID:716245003 semapv:UnspecifiedMatching MONDO:0007428 deafness-craniofacial syndrome skos:exactMatch UMLS:C1852278 semapv:UnspecifiedMatching MONDO:0007428 deafness-craniofacial syndrome skos:exactMatch mesh:C565118 semapv:UnspecifiedMatching MONDO:0007429 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy skos:exactMatch MEDGEN:478179 semapv:UnspecifiedMatching MONDO:0007429 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy skos:exactMatch OMIM:125250 optic atrophy plus syndrome semapv:UnspecifiedMatching MONDO:0007429 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy skos:exactMatch UMLS:C3276549 semapv:UnspecifiedMatching MONDO:0007430 dens evaginatus skos:exactMatch MEDGEN:78585 semapv:UnspecifiedMatching MONDO:0007430 dens evaginatus skos:exactMatch OMIM:125280 dens evaginatus semapv:UnspecifiedMatching MONDO:0007430 dens evaginatus skos:exactMatch SCTID:63691004 semapv:UnspecifiedMatching MONDO:0007430 dens evaginatus skos:exactMatch UMLS:C0266034 semapv:UnspecifiedMatching MONDO:0007430 dens evaginatus skos:exactMatch icd11.foundation:474468588 Dens evaginatus semapv:UnspecifiedMatching MONDO:0007431 dens in dente and palatal invaginations skos:exactMatch MEDGEN:377628 semapv:UnspecifiedMatching MONDO:0007431 dens in dente and palatal invaginations skos:exactMatch OMIM:125300 dens 1n dente and palatal invaginations semapv:UnspecifiedMatching MONDO:0007431 dens in dente and palatal invaginations skos:exactMatch UMLS:C1852250 semapv:UnspecifiedMatching MONDO:0007431 dens in dente and palatal invaginations skos:exactMatch mesh:C538211 semapv:UnspecifiedMatching MONDO:0007432 cerebral arteriopathy with subcortical infarcts and leukoencephalopathy skos:exactMatch DOID:13945 CADASIL semapv:UnspecifiedMatching MONDO:0007432 cerebral arteriopathy with subcortical infarcts and leukoencephalopathy skos:exactMatch MEDGEN:199687 semapv:UnspecifiedMatching MONDO:0007432 cerebral arteriopathy with subcortical infarcts and leukoencephalopathy skos:exactMatch OMIMPS:125310 Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy semapv:UnspecifiedMatching MONDO:0007432 cerebral arteriopathy with subcortical infarcts and leukoencephalopathy skos:exactMatch UMLS:C0751587 semapv:UnspecifiedMatching MONDO:0007433 dementia/parkinsonism with non-Alzheimer amyloid plaques skos:exactMatch MEDGEN:338883 semapv:UnspecifiedMatching MONDO:0007433 dementia/parkinsonism with non-Alzheimer amyloid plaques skos:exactMatch OMIM:125320 dementia/parkinsonism with non-alzheimer amyloid plaques semapv:UnspecifiedMatching MONDO:0007433 dementia/parkinsonism with non-Alzheimer amyloid plaques skos:exactMatch UMLS:C1852223 semapv:UnspecifiedMatching MONDO:0007433 dementia/parkinsonism with non-Alzheimer amyloid plaques skos:exactMatch mesh:C565115 semapv:UnspecifiedMatching MONDO:0007434 primary failure of tooth eruption skos:exactMatch DOID:0111341 primary failure of tooth eruption semapv:UnspecifiedMatching MONDO:0007434 primary failure of tooth eruption skos:exactMatch MEDGEN:338882 semapv:UnspecifiedMatching MONDO:0007434 primary failure of tooth eruption skos:exactMatch OMIM:125350 failure of tooth eruption, primary semapv:UnspecifiedMatching MONDO:0007434 primary failure of tooth eruption skos:exactMatch Orphanet:412206 Primary failure of tooth eruption semapv:UnspecifiedMatching MONDO:0007434 primary failure of tooth eruption skos:exactMatch UMLS:C1852222 semapv:UnspecifiedMatching MONDO:0007434 primary failure of tooth eruption skos:exactMatch mesh:C565114 semapv:UnspecifiedMatching MONDO:0007435 dentatorubral-pallidoluysian atrophy skos:exactMatch DOID:0060162 dentatorubral-pallidoluysian atrophy semapv:UnspecifiedMatching MONDO:0007435 dentatorubral-pallidoluysian atrophy skos:exactMatch MEDGEN:155630 semapv:UnspecifiedMatching MONDO:0007435 dentatorubral-pallidoluysian atrophy skos:exactMatch NCIT:C122653 Dentatorubral-Pallidoluysian Atrophy semapv:UnspecifiedMatching MONDO:0007435 dentatorubral-pallidoluysian atrophy skos:exactMatch OMIM:125370 dentatorubral-pallidoluysian atrophy semapv:UnspecifiedMatching MONDO:0007435 dentatorubral-pallidoluysian atrophy skos:exactMatch Orphanet:101 Dentatorubral pallidoluysian atrophy semapv:UnspecifiedMatching MONDO:0007435 dentatorubral-pallidoluysian atrophy skos:exactMatch SCTID:68116008 semapv:UnspecifiedMatching MONDO:0007435 dentatorubral-pallidoluysian atrophy skos:exactMatch UMLS:C0751781 semapv:UnspecifiedMatching MONDO:0007436 dentin dysplasia type I skos:exactMatch MEDGEN:97996 semapv:UnspecifiedMatching MONDO:0007436 dentin dysplasia type I skos:exactMatch OMIMPS:125400 Dentin dysplasia, type I semapv:UnspecifiedMatching MONDO:0007436 dentin dysplasia type I skos:exactMatch Orphanet:99789 Dentin dysplasia type I semapv:UnspecifiedMatching MONDO:0007436 dentin dysplasia type I skos:exactMatch SCTID:109493006 semapv:UnspecifiedMatching MONDO:0007436 dentin dysplasia type I skos:exactMatch UMLS:C0399379 semapv:UnspecifiedMatching MONDO:0007436 dentin dysplasia type I skos:exactMatch mesh:C531665 semapv:UnspecifiedMatching MONDO:0007436 dentin dysplasia type I skos:exactMatch mesh:C538215 semapv:UnspecifiedMatching MONDO:0007437 dentin dysplasia type II skos:exactMatch MEDGEN:96026 semapv:UnspecifiedMatching MONDO:0007437 dentin dysplasia type II skos:exactMatch OMIM:125420 dentin dysplasia, type 2 semapv:UnspecifiedMatching MONDO:0007437 dentin dysplasia type II skos:exactMatch Orphanet:99791 Dentin dysplasia type II semapv:UnspecifiedMatching MONDO:0007437 dentin dysplasia type II skos:exactMatch SCTID:109494000 semapv:UnspecifiedMatching MONDO:0007437 dentin dysplasia type II skos:exactMatch UMLS:C0399380 semapv:UnspecifiedMatching MONDO:0007438 dentin dysplasia-sclerotic bones syndrome skos:exactMatch MEDGEN:377618 semapv:UnspecifiedMatching MONDO:0007438 dentin dysplasia-sclerotic bones syndrome skos:exactMatch OMIM:125440 dentin dysplasia with sclerotic bones semapv:UnspecifiedMatching MONDO:0007438 dentin dysplasia-sclerotic bones syndrome skos:exactMatch Orphanet:99792 Dentin dysplasia-sclerotic bones syndrome semapv:UnspecifiedMatching MONDO:0007438 dentin dysplasia-sclerotic bones syndrome skos:exactMatch UMLS:C1852201 semapv:UnspecifiedMatching MONDO:0007438 dentin dysplasia-sclerotic bones syndrome skos:exactMatch mesh:C538213 semapv:UnspecifiedMatching MONDO:0007439 deoxyribose-5-phosphate aldolase deficiency skos:exactMatch MEDGEN:377617 semapv:UnspecifiedMatching MONDO:0007439 deoxyribose-5-phosphate aldolase deficiency skos:exactMatch OMIM:125460 deoxyribose-5-phosphate aldolase deficiency semapv:UnspecifiedMatching MONDO:0007439 deoxyribose-5-phosphate aldolase deficiency skos:exactMatch UMLS:C1852200 semapv:UnspecifiedMatching MONDO:0007439 deoxyribose-5-phosphate aldolase deficiency skos:exactMatch mesh:C565112 semapv:UnspecifiedMatching MONDO:0007440 major affective disorder 1 skos:exactMatch MEDGEN:377615 semapv:UnspecifiedMatching MONDO:0007440 major affective disorder 1 skos:exactMatch OMIM:125480 major affective disorder 1 semapv:UnspecifiedMatching MONDO:0007440 major affective disorder 1 skos:exactMatch UMLS:C1852197 semapv:UnspecifiedMatching MONDO:0007440 major affective disorder 1 skos:exactMatch mesh:C565111 semapv:UnspecifiedMatching MONDO:0007441 dentinogenesis imperfecta type 2 skos:exactMatch MEDGEN:424922 semapv:UnspecifiedMatching MONDO:0007441 dentinogenesis imperfecta type 2 skos:exactMatch OMIM:125490 dentinogenesis imperfecta 1 semapv:UnspecifiedMatching MONDO:0007441 dentinogenesis imperfecta type 2 skos:exactMatch Orphanet:166260 Dentinogenesis imperfecta type 2 semapv:UnspecifiedMatching MONDO:0007441 dentinogenesis imperfecta type 2 skos:exactMatch UMLS:C2973527 semapv:UnspecifiedMatching MONDO:0007441 dentinogenesis imperfecta type 2 skos:exactMatch icd11.foundation:314718507 Dentinogenesis imperfecta type 2 semapv:UnspecifiedMatching MONDO:0007442 dentinogenesis imperfecta type 3 skos:exactMatch MEDGEN:97995 semapv:UnspecifiedMatching MONDO:0007442 dentinogenesis imperfecta type 3 skos:exactMatch OMIM:125500 dentinogenesis imperfecta, shields type 3 semapv:UnspecifiedMatching MONDO:0007442 dentinogenesis imperfecta type 3 skos:exactMatch Orphanet:166265 Dentinogenesis imperfecta type 3 semapv:UnspecifiedMatching MONDO:0007442 dentinogenesis imperfecta type 3 skos:exactMatch SCTID:234970006 semapv:UnspecifiedMatching MONDO:0007442 dentinogenesis imperfecta type 3 skos:exactMatch UMLS:C0399378 semapv:UnspecifiedMatching MONDO:0007442 dentinogenesis imperfecta type 3 skos:exactMatch icd11.foundation:518257495 Dentinogenesis imperfecta type 3 semapv:UnspecifiedMatching MONDO:0007442 dentinogenesis imperfecta type 3 skos:exactMatch mesh:C538216 semapv:UnspecifiedMatching MONDO:0007443 congenital unilateral hypoplasia of depressor anguli oris skos:exactMatch MEDGEN:140911 semapv:UnspecifiedMatching MONDO:0007443 congenital unilateral hypoplasia of depressor anguli oris skos:exactMatch OMIM:125520 cayler cardiofacial syndrome semapv:UnspecifiedMatching MONDO:0007443 congenital unilateral hypoplasia of depressor anguli oris skos:exactMatch Orphanet:1166 Congenital unilateral hypoplasia of depressor anguli oris semapv:UnspecifiedMatching MONDO:0007443 congenital unilateral hypoplasia of depressor anguli oris skos:exactMatch SCTID:51409009 semapv:UnspecifiedMatching MONDO:0007443 congenital unilateral hypoplasia of depressor anguli oris skos:exactMatch UMLS:C0431406 semapv:UnspecifiedMatching MONDO:0007444 dermal Ridges, patternless skos:exactMatch MEDGEN:343736 semapv:UnspecifiedMatching MONDO:0007444 dermal Ridges, patternless skos:exactMatch OMIM:125540 dermal ridges, patternless semapv:UnspecifiedMatching MONDO:0007444 dermal Ridges, patternless skos:exactMatch UMLS:C1852160 semapv:UnspecifiedMatching MONDO:0007444 dermal Ridges, patternless skos:exactMatch mesh:C565109 semapv:UnspecifiedMatching MONDO:0007445 dermatopathia pigmentosa reticularis skos:exactMatch DOID:0111342 dermatopathia pigmentosa reticularis semapv:UnspecifiedMatching MONDO:0007445 dermatopathia pigmentosa reticularis skos:exactMatch MEDGEN:98037 semapv:UnspecifiedMatching MONDO:0007445 dermatopathia pigmentosa reticularis skos:exactMatch OMIM:125595 dermatopathia pigmentosa reticularis semapv:UnspecifiedMatching MONDO:0007445 dermatopathia pigmentosa reticularis skos:exactMatch Orphanet:86920 Dermatopathia pigmentosa reticularis semapv:UnspecifiedMatching MONDO:0007445 dermatopathia pigmentosa reticularis skos:exactMatch SCTID:239088003 semapv:UnspecifiedMatching MONDO:0007445 dermatopathia pigmentosa reticularis skos:exactMatch UMLS:C0406778 semapv:UnspecifiedMatching MONDO:0007445 dermatopathia pigmentosa reticularis skos:exactMatch mesh:C535374 semapv:UnspecifiedMatching MONDO:0007446 dermatosis papulosa nigra skos:exactMatch DOID:4400 dermatosis papulosa nigra semapv:UnspecifiedMatching MONDO:0007446 dermatosis papulosa nigra skos:exactMatch EFO:1000686 semapv:UnspecifiedMatching MONDO:0007446 dermatosis papulosa nigra skos:exactMatch MEDGEN:4238 semapv:UnspecifiedMatching MONDO:0007446 dermatosis papulosa nigra skos:exactMatch NCIT:C2984 Dermatosis Papulosa Nigra semapv:UnspecifiedMatching MONDO:0007446 dermatosis papulosa nigra skos:exactMatch OMIM:125600 dermatosis papulosa nigra semapv:UnspecifiedMatching MONDO:0007446 dermatosis papulosa nigra skos:exactMatch SCTID:254669003 semapv:UnspecifiedMatching MONDO:0007446 dermatosis papulosa nigra skos:exactMatch UMLS:C0011645 semapv:UnspecifiedMatching MONDO:0007446 dermatosis papulosa nigra skos:exactMatch icd11.foundation:168986957 Dermatosis papulosa nigra semapv:UnspecifiedMatching MONDO:0007446 dermatosis papulosa nigra skos:exactMatch mesh:C562379 semapv:UnspecifiedMatching MONDO:0007447 autosomal dominant vibratory urticaria skos:exactMatch OMIM:125630 vibratory urticaria semapv:UnspecifiedMatching MONDO:0007447 autosomal dominant vibratory urticaria skos:exactMatch Orphanet:493342 Vibratory urticaria semapv:UnspecifiedMatching MONDO:0007447 autosomal dominant vibratory urticaria skos:exactMatch SCTID:238694002 semapv:UnspecifiedMatching MONDO:0007447 autosomal dominant vibratory urticaria skos:exactMatch mesh:C536347 semapv:UnspecifiedMatching MONDO:0007448 familial dermatographia skos:exactMatch DOID:743 dermatographia semapv:UnspecifiedMatching MONDO:0007448 familial dermatographia skos:exactMatch EFO:1000685 semapv:UnspecifiedMatching MONDO:0007448 familial dermatographia skos:exactMatch ICD10CM:L50.3 Dermatographic urticaria semapv:UnspecifiedMatching MONDO:0007448 familial dermatographia skos:exactMatch MEDGEN:342170 semapv:UnspecifiedMatching MONDO:0007448 familial dermatographia skos:exactMatch OMIM:125635 dermographism, familial semapv:UnspecifiedMatching MONDO:0007448 familial dermatographia skos:exactMatch SCTID:7632005 semapv:UnspecifiedMatching MONDO:0007448 familial dermatographia skos:exactMatch UMLS:C1852145 semapv:UnspecifiedMatching MONDO:0007448 familial dermatographia skos:exactMatch mesh:C536612 semapv:UnspecifiedMatching MONDO:0007449 dermo-odonto dysplasia skos:exactMatch MEDGEN:377602 semapv:UnspecifiedMatching MONDO:0007449 dermo-odonto dysplasia skos:exactMatch OMIM:125640 dermoodontodysplasia semapv:UnspecifiedMatching MONDO:0007449 dermo-odonto dysplasia skos:exactMatch Orphanet:1660 Dermoodontodysplasia semapv:UnspecifiedMatching MONDO:0007449 dermo-odonto dysplasia skos:exactMatch SCTID:721091003 semapv:UnspecifiedMatching MONDO:0007449 dermo-odonto dysplasia skos:exactMatch UMLS:C1852144 semapv:UnspecifiedMatching MONDO:0007449 dermo-odonto dysplasia skos:exactMatch mesh:C565103 semapv:UnspecifiedMatching MONDO:0007450 neurohypophyseal diabetes insipidus skos:exactMatch DOID:12388 neurohypophyseal diabetes insipidus semapv:UnspecifiedMatching MONDO:0007450 neurohypophyseal diabetes insipidus skos:exactMatch MEDGEN:574999 semapv:UnspecifiedMatching MONDO:0007450 neurohypophyseal diabetes insipidus skos:exactMatch NCIT:C84933 Neurogenic Diabetes Insipidus semapv:UnspecifiedMatching MONDO:0007450 neurohypophyseal diabetes insipidus skos:exactMatch OMIM:125700 diabetes insipidus, neurohypophyseal semapv:UnspecifiedMatching MONDO:0007450 neurohypophyseal diabetes insipidus skos:exactMatch Orphanet:30925 Hereditary arginine vasopressin deficiency semapv:UnspecifiedMatching MONDO:0007450 neurohypophyseal diabetes insipidus skos:exactMatch SCTID:45369008 semapv:UnspecifiedMatching MONDO:0007450 neurohypophyseal diabetes insipidus skos:exactMatch UMLS:C0342394 semapv:UnspecifiedMatching MONDO:0007450 neurohypophyseal diabetes insipidus skos:exactMatch icd11.foundation:97299603 Neurohypophyseal diabetes insipidus semapv:UnspecifiedMatching MONDO:0007451 diabetes insipidus, nephrogenic, autosomal skos:exactMatch DOID:0081061 nephrogenic diabetes insipidus type 2 semapv:UnspecifiedMatching MONDO:0007451 diabetes insipidus, nephrogenic, autosomal skos:exactMatch MEDGEN:289643 semapv:UnspecifiedMatching MONDO:0007451 diabetes insipidus, nephrogenic, autosomal skos:exactMatch OMIM:125800 diabetes insipidus, nephrogenic, 2, autosomal semapv:UnspecifiedMatching MONDO:0007451 diabetes insipidus, nephrogenic, autosomal skos:exactMatch UMLS:C1563706 semapv:UnspecifiedMatching MONDO:0007452 maturity-onset diabetes of the young type 1 skos:exactMatch DOID:0111099 maturity-onset diabetes of the young type 1 semapv:UnspecifiedMatching MONDO:0007452 maturity-onset diabetes of the young type 1 skos:exactMatch MEDGEN:377589 semapv:UnspecifiedMatching MONDO:0007452 maturity-onset diabetes of the young type 1 skos:exactMatch NCIT:C129744 Hepatocyte Nuclear Factor 4-Alpha Associated Monogenic Diabetes semapv:UnspecifiedMatching MONDO:0007452 maturity-onset diabetes of the young type 1 skos:exactMatch OMIM:125850 maturity-onset diabetes of the young, type 1 semapv:UnspecifiedMatching MONDO:0007452 maturity-onset diabetes of the young type 1 skos:exactMatch SCTID:609562003 semapv:UnspecifiedMatching MONDO:0007452 maturity-onset diabetes of the young type 1 skos:exactMatch UMLS:C1852093 semapv:UnspecifiedMatching MONDO:0007452 maturity-onset diabetes of the young type 1 skos:exactMatch mesh:C565101 semapv:UnspecifiedMatching MONDO:0007453 maturity-onset diabetes of the young type 2 skos:exactMatch DOID:0111100 maturity-onset diabetes of the young type 2 semapv:UnspecifiedMatching MONDO:0007453 maturity-onset diabetes of the young type 2 skos:exactMatch MEDGEN:87434 semapv:UnspecifiedMatching MONDO:0007453 maturity-onset diabetes of the young type 2 skos:exactMatch NCIT:C129741 Glucokinase-Associated Diabetes Mellitus semapv:UnspecifiedMatching MONDO:0007453 maturity-onset diabetes of the young type 2 skos:exactMatch OMIM:125851 maturity-onset diabetes of the young, type 2 semapv:UnspecifiedMatching MONDO:0007453 maturity-onset diabetes of the young type 2 skos:exactMatch SCTID:237604008 semapv:UnspecifiedMatching MONDO:0007453 maturity-onset diabetes of the young type 2 skos:exactMatch UMLS:C0342277 semapv:UnspecifiedMatching MONDO:0007454 type 1 diabetes mellitus 2 skos:exactMatch DOID:0110741 type 1 diabetes mellitus 2 semapv:UnspecifiedMatching MONDO:0007454 type 1 diabetes mellitus 2 skos:exactMatch MEDGEN:377588 semapv:UnspecifiedMatching MONDO:0007454 type 1 diabetes mellitus 2 skos:exactMatch OMIM:125852 type 1 diabetes mellitus 2 semapv:UnspecifiedMatching MONDO:0007454 type 1 diabetes mellitus 2 skos:exactMatch UMLS:C1852092 semapv:UnspecifiedMatching MONDO:0007454 type 1 diabetes mellitus 2 skos:exactMatch mesh:C565100 semapv:UnspecifiedMatching MONDO:0007456 diarrhea, glucose-stimulated secretory, with common variable immunodeficiency skos:exactMatch MEDGEN:377585 semapv:UnspecifiedMatching MONDO:0007456 diarrhea, glucose-stimulated secretory, with common variable immunodeficiency skos:exactMatch OMIM:125890 diarrhea, glucose-stimulated secretory, with common variable immunodeficiency semapv:UnspecifiedMatching MONDO:0007456 diarrhea, glucose-stimulated secretory, with common variable immunodeficiency skos:exactMatch UMLS:C1852087 semapv:UnspecifiedMatching MONDO:0007456 diarrhea, glucose-stimulated secretory, with common variable immunodeficiency skos:exactMatch mesh:C565099 semapv:UnspecifiedMatching MONDO:0007457 diastema, dental medial skos:exactMatch MEDGEN:342157 semapv:UnspecifiedMatching MONDO:0007457 diastema, dental medial skos:exactMatch OMIM:125900 diastema, dental medial semapv:UnspecifiedMatching MONDO:0007457 diastema, dental medial skos:exactMatch UMLS:C1852086 semapv:UnspecifiedMatching MONDO:0007457 diastema, dental medial skos:exactMatch mesh:C565098 semapv:UnspecifiedMatching MONDO:0007458 digitotalar dysmorphism; ulnar drift, hereditary skos:exactMatch MEDGEN:342156 semapv:UnspecifiedMatching MONDO:0007458 digitotalar dysmorphism; ulnar drift, hereditary skos:exactMatch OMIM:126050 digitotalar dysmorphism semapv:UnspecifiedMatching MONDO:0007458 digitotalar dysmorphism; ulnar drift, hereditary skos:exactMatch UMLS:C1852085 semapv:UnspecifiedMatching MONDO:0007459 dilution, pigmentary skos:exactMatch MEDGEN:406294 semapv:UnspecifiedMatching MONDO:0007459 dilution, pigmentary skos:exactMatch OMIM:126070 dilution, pigmentary semapv:UnspecifiedMatching MONDO:0007459 dilution, pigmentary skos:exactMatch SCTID:23006000 semapv:UnspecifiedMatching MONDO:0007459 dilution, pigmentary skos:exactMatch UMLS:C1876214 semapv:UnspecifiedMatching MONDO:0007459 dilution, pigmentary skos:exactMatch mesh:C566872 semapv:UnspecifiedMatching MONDO:0007460 discrimination, Two-point, reduction 1N skos:exactMatch MEDGEN:343713 semapv:UnspecifiedMatching MONDO:0007460 discrimination, Two-point, reduction 1N skos:exactMatch OMIM:126180 discrimination, two-point, reduction 1n semapv:UnspecifiedMatching MONDO:0007460 discrimination, Two-point, reduction 1N skos:exactMatch UMLS:C1852074 semapv:UnspecifiedMatching MONDO:0007461 short stature-valvular heart disease-characteristic facies syndrome skos:exactMatch MEDGEN:338866 semapv:UnspecifiedMatching MONDO:0007461 short stature-valvular heart disease-characteristic facies syndrome skos:exactMatch OMIM:126190 disproportionate short stature with ptosis and valvular heart lesions semapv:UnspecifiedMatching MONDO:0007461 short stature-valvular heart disease-characteristic facies syndrome skos:exactMatch Orphanet:2868 Short stature-valvular heart disease-characteristic facies syndrome semapv:UnspecifiedMatching MONDO:0007461 short stature-valvular heart disease-characteristic facies syndrome skos:exactMatch UMLS:C1852073 semapv:UnspecifiedMatching MONDO:0007461 short stature-valvular heart disease-characteristic facies syndrome skos:exactMatch mesh:C565094 semapv:UnspecifiedMatching MONDO:0007462 multiple sclerosis, susceptibility to skos:exactMatch MEDGEN:358269 semapv:UnspecifiedMatching MONDO:0007462 multiple sclerosis, susceptibility to skos:exactMatch OMIMPS:126200 Multiple sclerosis, susceptibility to semapv:UnspecifiedMatching MONDO:0007462 multiple sclerosis, susceptibility to skos:exactMatch UMLS:C1868685 semapv:UnspecifiedMatching MONDO:0007463 distal osteosclerosis skos:exactMatch MEDGEN:338863 semapv:UnspecifiedMatching MONDO:0007463 distal osteosclerosis skos:exactMatch OMIM:126250 distal osteosclerosis semapv:UnspecifiedMatching MONDO:0007463 distal osteosclerosis skos:exactMatch UMLS:C1852063 semapv:UnspecifiedMatching MONDO:0007463 distal osteosclerosis skos:exactMatch mesh:C565093 semapv:UnspecifiedMatching MONDO:0007464 obsolete isolated distichiasis skos:exactMatch OMIM:126300 distichiasis semapv:UnspecifiedMatching MONDO:0007464 obsolete isolated distichiasis skos:exactMatch Orphanet:99177 Isolated distichiasis semapv:UnspecifiedMatching MONDO:0007464 obsolete isolated distichiasis skos:exactMatch SCTID:95339000 semapv:UnspecifiedMatching MONDO:0007465 distichiasis with congenital anomalies of the heart and peripheral vasculature skos:exactMatch MEDGEN:338862 semapv:UnspecifiedMatching MONDO:0007465 distichiasis with congenital anomalies of the heart and peripheral vasculature skos:exactMatch OMIM:126320 distichiasis with congenital anomalies of the heart and peripheral vasculature semapv:UnspecifiedMatching MONDO:0007465 distichiasis with congenital anomalies of the heart and peripheral vasculature skos:exactMatch UMLS:C1852062 semapv:UnspecifiedMatching MONDO:0007465 distichiasis with congenital anomalies of the heart and peripheral vasculature skos:exactMatch mesh:C565092 semapv:UnspecifiedMatching MONDO:0007466 DNA, satellite, 3 skos:exactMatch OMIM:126370 dna, satellite, 3 semapv:UnspecifiedMatching MONDO:0007467 DNA, low-repetitive sequences of skos:exactMatch MEDGEN:342148 semapv:UnspecifiedMatching MONDO:0007467 DNA, low-repetitive sequences of skos:exactMatch OMIM:126390 dna, low-repetitive sequences of semapv:UnspecifiedMatching MONDO:0007467 DNA, low-repetitive sequences of skos:exactMatch UMLS:C1852041 semapv:UnspecifiedMatching MONDO:0007468 obsolete DNA, satellite, alpha type skos:exactMatch OMIM:126410 dna, satellite, alpha type semapv:UnspecifiedMatching MONDO:0007469 double nail for fifth toe skos:exactMatch MEDGEN:343705 semapv:UnspecifiedMatching MONDO:0007469 double nail for fifth toe skos:exactMatch OMIM:126500 double nail for fifth toe semapv:UnspecifiedMatching MONDO:0007469 double nail for fifth toe skos:exactMatch UMLS:C1852023 semapv:UnspecifiedMatching MONDO:0007469 double nail for fifth toe skos:exactMatch mesh:C565090 semapv:UnspecifiedMatching MONDO:0007470 calvarial doughnut lesions-bone fragility syndrome skos:exactMatch DOID:0080721 calvarial doughnut lesions with bone fragility semapv:UnspecifiedMatching MONDO:0007470 calvarial doughnut lesions-bone fragility syndrome skos:exactMatch MEDGEN:377572 semapv:UnspecifiedMatching MONDO:0007470 calvarial doughnut lesions-bone fragility syndrome skos:exactMatch OMIM:126550 calvarial doughnut lesions with bone fragility semapv:UnspecifiedMatching MONDO:0007470 calvarial doughnut lesions-bone fragility syndrome skos:exactMatch Orphanet:85192 Calvarial doughnut lesions-bone fragility syndrome semapv:UnspecifiedMatching MONDO:0007470 calvarial doughnut lesions-bone fragility syndrome skos:exactMatch SCTID:720598005 semapv:UnspecifiedMatching MONDO:0007470 calvarial doughnut lesions-bone fragility syndrome skos:exactMatch UMLS:C1852022 semapv:UnspecifiedMatching MONDO:0007470 calvarial doughnut lesions-bone fragility syndrome skos:exactMatch mesh:C565089 semapv:UnspecifiedMatching MONDO:0007471 Doyne honeycomb retinal dystrophy skos:exactMatch DOID:0060745 Doyne honeycomb retinal dystrophy semapv:UnspecifiedMatching MONDO:0007471 Doyne honeycomb retinal dystrophy skos:exactMatch MEDGEN:321900 semapv:UnspecifiedMatching MONDO:0007471 Doyne honeycomb retinal dystrophy skos:exactMatch OMIM:126600 doyne honeycomb retinal dystrophy semapv:UnspecifiedMatching MONDO:0007471 Doyne honeycomb retinal dystrophy skos:exactMatch Orphanet:75376 Familial drusen semapv:UnspecifiedMatching MONDO:0007471 Doyne honeycomb retinal dystrophy skos:exactMatch SCTID:193411004 semapv:UnspecifiedMatching MONDO:0007471 Doyne honeycomb retinal dystrophy skos:exactMatch UMLS:C1832174 semapv:UnspecifiedMatching MONDO:0007472 basal laminar drusen skos:exactMatch DOID:0060746 basal laminar drusen semapv:UnspecifiedMatching MONDO:0007472 basal laminar drusen skos:exactMatch MEDGEN:152676 semapv:UnspecifiedMatching MONDO:0007472 basal laminar drusen skos:exactMatch OMIM:126700 basal laminar drusen semapv:UnspecifiedMatching MONDO:0007472 basal laminar drusen skos:exactMatch UMLS:C0730295 semapv:UnspecifiedMatching MONDO:0007472 basal laminar drusen skos:exactMatch mesh:C563034 semapv:UnspecifiedMatching MONDO:0007473 Duane retraction syndrome skos:exactMatch DOID:12557 Duane retraction syndrome semapv:UnspecifiedMatching MONDO:0007473 Duane retraction syndrome skos:exactMatch ICD10CM:H50.81 Duane's syndrome semapv:UnspecifiedMatching MONDO:0007473 Duane retraction syndrome skos:exactMatch MEDGEN:4413 semapv:UnspecifiedMatching MONDO:0007473 Duane retraction syndrome skos:exactMatch NCIT:C84678 Duane Syndrome semapv:UnspecifiedMatching MONDO:0007473 Duane retraction syndrome skos:exactMatch OMIMPS:126800 Duane retraction syndrome semapv:UnspecifiedMatching MONDO:0007473 Duane retraction syndrome skos:exactMatch Orphanet:233 Duane retraction syndrome semapv:UnspecifiedMatching MONDO:0007473 Duane retraction syndrome skos:exactMatch SCTID:60318001 semapv:UnspecifiedMatching MONDO:0007473 Duane retraction syndrome skos:exactMatch UMLS:C0013261 semapv:UnspecifiedMatching MONDO:0007473 Duane retraction syndrome skos:exactMatch mesh:D004370 semapv:UnspecifiedMatching MONDO:0007474 duodenal ulcer due to antral G-cell hyperfunction skos:exactMatch MEDGEN:338843 semapv:UnspecifiedMatching MONDO:0007474 duodenal ulcer due to antral G-cell hyperfunction skos:exactMatch OMIM:126840 duodenal ulcer due to antral g-cell hyperfunction semapv:UnspecifiedMatching MONDO:0007474 duodenal ulcer due to antral G-cell hyperfunction skos:exactMatch UMLS:C1852009 semapv:UnspecifiedMatching MONDO:0007474 duodenal ulcer due to antral G-cell hyperfunction skos:exactMatch mesh:C535721 semapv:UnspecifiedMatching MONDO:0007475 duodenal ulcer, hyperpepsinogenemic 1 skos:exactMatch MEDGEN:343701 semapv:UnspecifiedMatching MONDO:0007475 duodenal ulcer, hyperpepsinogenemic 1 skos:exactMatch OMIM:126850 duodenal ulcer, hyperpepsinogenemic 1 semapv:UnspecifiedMatching MONDO:0007475 duodenal ulcer, hyperpepsinogenemic 1 skos:exactMatch UMLS:C1852008 semapv:UnspecifiedMatching MONDO:0007475 duodenal ulcer, hyperpepsinogenemic 1 skos:exactMatch mesh:C565086 semapv:UnspecifiedMatching MONDO:0007476 familial Dupuytren contracture skos:exactMatch MEDGEN:41672 semapv:UnspecifiedMatching MONDO:0007476 familial Dupuytren contracture skos:exactMatch OMIM:126900 dupuytren contracture semapv:UnspecifiedMatching MONDO:0007476 familial Dupuytren contracture skos:exactMatch SCTID:274142002 semapv:UnspecifiedMatching MONDO:0007476 familial Dupuytren contracture skos:exactMatch UMLS:C0013312 semapv:UnspecifiedMatching MONDO:0007477 3-M syndrome skos:exactMatch DOID:0060241 3-M syndrome semapv:UnspecifiedMatching MONDO:0007477 3-M syndrome skos:exactMatch MEDGEN:336440 semapv:UnspecifiedMatching MONDO:0007477 3-M syndrome skos:exactMatch OMIMPS:273750 Three M syndrome semapv:UnspecifiedMatching MONDO:0007477 3-M syndrome skos:exactMatch Orphanet:2616 3M syndrome semapv:UnspecifiedMatching MONDO:0007477 3-M syndrome skos:exactMatch SCTID:702342007 semapv:UnspecifiedMatching MONDO:0007477 3-M syndrome skos:exactMatch UMLS:C1848862 semapv:UnspecifiedMatching MONDO:0007477 3-M syndrome skos:exactMatch mesh:C535314 semapv:UnspecifiedMatching MONDO:0007478 autosomal dominant Kenny-Caffey syndrome skos:exactMatch DOID:0080723 Kenny-Caffey syndrome type 2 semapv:UnspecifiedMatching MONDO:0007478 autosomal dominant Kenny-Caffey syndrome skos:exactMatch MEDGEN:1373312 semapv:UnspecifiedMatching MONDO:0007478 autosomal dominant Kenny-Caffey syndrome skos:exactMatch NCIT:C130993 Kenny-Caffey Syndrome Type 2 semapv:UnspecifiedMatching MONDO:0007478 autosomal dominant Kenny-Caffey syndrome skos:exactMatch OMIM:127000 kenny-caffey syndrome, type 2 semapv:UnspecifiedMatching MONDO:0007478 autosomal dominant Kenny-Caffey syndrome skos:exactMatch Orphanet:93325 Autosomal dominant Kenny-Caffey syndrome semapv:UnspecifiedMatching MONDO:0007478 autosomal dominant Kenny-Caffey syndrome skos:exactMatch UMLS:C4316787 semapv:UnspecifiedMatching MONDO:0007479 dwarfism, Levi type skos:exactMatch MEDGEN:338837 semapv:UnspecifiedMatching MONDO:0007479 dwarfism, Levi type skos:exactMatch OMIM:127100 dwarfism, levi type semapv:UnspecifiedMatching MONDO:0007479 dwarfism, Levi type skos:exactMatch UMLS:C1851994 semapv:UnspecifiedMatching MONDO:0007479 dwarfism, Levi type skos:exactMatch mesh:C565081 semapv:UnspecifiedMatching MONDO:0007480 dwarfism with stiff joints and ocular abnormalities skos:exactMatch MEDGEN:82709 semapv:UnspecifiedMatching MONDO:0007480 dwarfism with stiff joints and ocular abnormalities skos:exactMatch OMIM:127200 dwarfism with stiff joints and ocular abnormalities semapv:UnspecifiedMatching MONDO:0007480 dwarfism with stiff joints and ocular abnormalities skos:exactMatch SCTID:72913007 semapv:UnspecifiedMatching MONDO:0007480 dwarfism with stiff joints and ocular abnormalities skos:exactMatch UMLS:C0265349 semapv:UnspecifiedMatching MONDO:0007480 dwarfism with stiff joints and ocular abnormalities skos:exactMatch mesh:C535724 semapv:UnspecifiedMatching MONDO:0007481 Leri-Weill dyschondrosteosis skos:exactMatch DOID:0060847 Leri-Weill dyschondrosteosis semapv:UnspecifiedMatching MONDO:0007481 Leri-Weill dyschondrosteosis skos:exactMatch MEDGEN:75562 semapv:UnspecifiedMatching MONDO:0007481 Leri-Weill dyschondrosteosis skos:exactMatch NCIT:C126560 Leri-Weill Dyschondrosteosis semapv:UnspecifiedMatching MONDO:0007481 Leri-Weill dyschondrosteosis skos:exactMatch OMIM:127300 leri-weill dyschondrosteosis semapv:UnspecifiedMatching MONDO:0007481 Leri-Weill dyschondrosteosis skos:exactMatch Orphanet:240 Léri-Weill dyschondrosteosis semapv:UnspecifiedMatching MONDO:0007481 Leri-Weill dyschondrosteosis skos:exactMatch SCTID:17818006 semapv:UnspecifiedMatching MONDO:0007481 Leri-Weill dyschondrosteosis skos:exactMatch UMLS:C0265309 semapv:UnspecifiedMatching MONDO:0007482 dyschondrosteosis-nephritis syndrome skos:exactMatch MEDGEN:342135 semapv:UnspecifiedMatching MONDO:0007482 dyschondrosteosis-nephritis syndrome skos:exactMatch OMIM:127350 dyschondrosteosis and nephritis semapv:UnspecifiedMatching MONDO:0007482 dyschondrosteosis-nephritis syndrome skos:exactMatch UMLS:C1851986 semapv:UnspecifiedMatching MONDO:0007482 dyschondrosteosis-nephritis syndrome skos:exactMatch mesh:C565080 semapv:UnspecifiedMatching MONDO:0007483 dyschromatosis symmetrica hereditaria skos:exactMatch DOID:0060257 dyschromatosis symmetrica hereditaria semapv:UnspecifiedMatching MONDO:0007483 dyschromatosis symmetrica hereditaria skos:exactMatch MEDGEN:96071 semapv:UnspecifiedMatching MONDO:0007483 dyschromatosis symmetrica hereditaria skos:exactMatch NCIT:C118435 Dyschromatosis Symmetrica Hereditaria semapv:UnspecifiedMatching MONDO:0007483 dyschromatosis symmetrica hereditaria skos:exactMatch OMIM:127400 dyschromatosis symmetrica hereditaria semapv:UnspecifiedMatching MONDO:0007483 dyschromatosis symmetrica hereditaria skos:exactMatch Orphanet:41 Dyschromatosis symmetrica hereditaria semapv:UnspecifiedMatching MONDO:0007483 dyschromatosis symmetrica hereditaria skos:exactMatch SCTID:239085000 semapv:UnspecifiedMatching MONDO:0007483 dyschromatosis symmetrica hereditaria skos:exactMatch UMLS:C0406775 semapv:UnspecifiedMatching MONDO:0007483 dyschromatosis symmetrica hereditaria skos:exactMatch mesh:C535729 semapv:UnspecifiedMatching MONDO:0007485 dyskeratosis congenita, autosomal dominant 1 skos:exactMatch DOID:0070014 autosomal dominant dyskeratosis congenita 1 semapv:UnspecifiedMatching MONDO:0007485 dyskeratosis congenita, autosomal dominant 1 skos:exactMatch MEDGEN:1645250 semapv:UnspecifiedMatching MONDO:0007485 dyskeratosis congenita, autosomal dominant 1 skos:exactMatch NCIT:C176921 Dyskeratosis Congenita, Autosomal Dominant 1 semapv:UnspecifiedMatching MONDO:0007485 dyskeratosis congenita, autosomal dominant 1 skos:exactMatch OMIM:127550 dyskeratosis congenita, autosomal dominant 1 semapv:UnspecifiedMatching MONDO:0007485 dyskeratosis congenita, autosomal dominant 1 skos:exactMatch SCTID:707273001 semapv:UnspecifiedMatching MONDO:0007485 dyskeratosis congenita, autosomal dominant 1 skos:exactMatch UMLS:C4551974 semapv:UnspecifiedMatching MONDO:0007485 dyskeratosis congenita, autosomal dominant 1 skos:exactMatch mesh:C565079 semapv:UnspecifiedMatching MONDO:0007486 hereditary benign intraepithelial dyskeratosis skos:exactMatch MEDGEN:75588 semapv:UnspecifiedMatching MONDO:0007486 hereditary benign intraepithelial dyskeratosis skos:exactMatch NCIT:C3940 Hereditary Benign Intraepithelial Dyskeratosis semapv:UnspecifiedMatching MONDO:0007486 hereditary benign intraepithelial dyskeratosis skos:exactMatch OMIM:127600 dyskeratosis, hereditary benign intraepithelial semapv:UnspecifiedMatching MONDO:0007486 hereditary benign intraepithelial dyskeratosis skos:exactMatch Orphanet:352657 Hereditary benign intraepithelial dyskeratosis semapv:UnspecifiedMatching MONDO:0007486 hereditary benign intraepithelial dyskeratosis skos:exactMatch SCTID:400014002 semapv:UnspecifiedMatching MONDO:0007486 hereditary benign intraepithelial dyskeratosis skos:exactMatch UMLS:C0265966 semapv:UnspecifiedMatching MONDO:0007486 hereditary benign intraepithelial dyskeratosis skos:exactMatch icd11.foundation:2059594980 Hereditary benign intraepithelial dyskeratosis semapv:UnspecifiedMatching MONDO:0007486 hereditary benign intraepithelial dyskeratosis skos:exactMatch mesh:C562551 semapv:UnspecifiedMatching MONDO:0007487 dyslexia, susceptibility to, 1 skos:exactMatch MEDGEN:338828 semapv:UnspecifiedMatching MONDO:0007487 dyslexia, susceptibility to, 1 skos:exactMatch OMIM:127700 dyslexia, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0007487 dyslexia, susceptibility to, 1 skos:exactMatch UMLS:C1851967 semapv:UnspecifiedMatching MONDO:0007488 Lewy body dementia skos:exactMatch DOID:12217 Lewy body dementia semapv:UnspecifiedMatching MONDO:0007488 Lewy body dementia skos:exactMatch EFO:0006792 semapv:UnspecifiedMatching MONDO:0007488 Lewy body dementia skos:exactMatch ICD10CM:G31.83 Neurocognitive disorder with Lewy bodies semapv:UnspecifiedMatching MONDO:0007488 Lewy body dementia skos:exactMatch MEDGEN:199874 semapv:UnspecifiedMatching MONDO:0007488 Lewy body dementia skos:exactMatch NCIT:C84826 Lewy Body Dementia semapv:UnspecifiedMatching MONDO:0007488 Lewy body dementia skos:exactMatch OMIM:127750 dementia, lewy body semapv:UnspecifiedMatching MONDO:0007488 Lewy body dementia skos:exactMatch SCTID:312991009 semapv:UnspecifiedMatching MONDO:0007488 Lewy body dementia skos:exactMatch UMLS:C0752347 semapv:UnspecifiedMatching MONDO:0007489 dysplasia epiphysealis hemimelica skos:exactMatch MEDGEN:96591 semapv:UnspecifiedMatching MONDO:0007489 dysplasia epiphysealis hemimelica skos:exactMatch OMIM:127800 dysplasia epiphysealis hemimelica semapv:UnspecifiedMatching MONDO:0007489 dysplasia epiphysealis hemimelica skos:exactMatch Orphanet:1822 Dysplasia epiphysealis hemimelica semapv:UnspecifiedMatching MONDO:0007489 dysplasia epiphysealis hemimelica skos:exactMatch SCTID:205480005 semapv:UnspecifiedMatching MONDO:0007489 dysplasia epiphysealis hemimelica skos:exactMatch UMLS:C0432282 semapv:UnspecifiedMatching MONDO:0007489 dysplasia epiphysealis hemimelica skos:exactMatch icd11.foundation:1995096940 Dysplasia epiphysealis hemimelica semapv:UnspecifiedMatching MONDO:0007489 dysplasia epiphysealis hemimelica skos:exactMatch mesh:C537997 semapv:UnspecifiedMatching MONDO:0007490 carpotarsal osteochondromatosis skos:exactMatch MEDGEN:377557 semapv:UnspecifiedMatching MONDO:0007490 carpotarsal osteochondromatosis skos:exactMatch OMIM:127820 dysplasia epiphysealis hemimelica with chondromas and osteochondromas semapv:UnspecifiedMatching MONDO:0007490 carpotarsal osteochondromatosis skos:exactMatch Orphanet:2767 Carpotarsal osteochondromatosis semapv:UnspecifiedMatching MONDO:0007490 carpotarsal osteochondromatosis skos:exactMatch SCTID:389272007 semapv:UnspecifiedMatching MONDO:0007490 carpotarsal osteochondromatosis skos:exactMatch UMLS:C1851956 semapv:UnspecifiedMatching MONDO:0007490 carpotarsal osteochondromatosis skos:exactMatch icd11.foundation:1406756925 Carpotarsal osteochondromatosis semapv:UnspecifiedMatching MONDO:0007490 carpotarsal osteochondromatosis skos:exactMatch mesh:C565076 semapv:UnspecifiedMatching MONDO:0007491 dystelephalangy skos:exactMatch MEDGEN:343690 semapv:UnspecifiedMatching MONDO:0007491 dystelephalangy skos:exactMatch OMIM:128000 dystelephalangy semapv:UnspecifiedMatching MONDO:0007491 dystelephalangy skos:exactMatch UMLS:C1851955 semapv:UnspecifiedMatching MONDO:0007491 dystelephalangy skos:exactMatch mesh:C538000 semapv:UnspecifiedMatching MONDO:0007492 early-onset generalized limb-onset dystonia skos:exactMatch DOID:0060730 torsion dystonia 1 semapv:UnspecifiedMatching MONDO:0007492 early-onset generalized limb-onset dystonia skos:exactMatch MEDGEN:338823 semapv:UnspecifiedMatching MONDO:0007492 early-onset generalized limb-onset dystonia skos:exactMatch NCIT:C116718 Early Onset Primary Dystonia semapv:UnspecifiedMatching MONDO:0007492 early-onset generalized limb-onset dystonia skos:exactMatch OMIM:128100 dystonia 1, torsion, autosomal dominant semapv:UnspecifiedMatching MONDO:0007492 early-onset generalized limb-onset dystonia skos:exactMatch Orphanet:256 Early-onset generalized limb-onset dystonia semapv:UnspecifiedMatching MONDO:0007492 early-onset generalized limb-onset dystonia skos:exactMatch UMLS:C1851945 semapv:UnspecifiedMatching MONDO:0007492 early-onset generalized limb-onset dystonia skos:exactMatch mesh:C538005 semapv:UnspecifiedMatching MONDO:0007493 torsion dystonia 4 skos:exactMatch DOID:0090041 torsion dystonia 4 semapv:UnspecifiedMatching MONDO:0007493 torsion dystonia 4 skos:exactMatch MEDGEN:342124 semapv:UnspecifiedMatching MONDO:0007493 torsion dystonia 4 skos:exactMatch OMIM:128101 dystonia 4, torsion, autosomal dominant semapv:UnspecifiedMatching MONDO:0007493 torsion dystonia 4 skos:exactMatch Orphanet:98805 Primary dystonia, DYT4 type semapv:UnspecifiedMatching MONDO:0007493 torsion dystonia 4 skos:exactMatch SCTID:719276005 semapv:UnspecifiedMatching MONDO:0007493 torsion dystonia 4 skos:exactMatch UMLS:C1851943 semapv:UnspecifiedMatching MONDO:0007495 dystonia 5 skos:exactMatch DOID:0090043 dopa-responsive dystonia semapv:UnspecifiedMatching MONDO:0007495 dystonia 5 skos:exactMatch MEDGEN:342121 semapv:UnspecifiedMatching MONDO:0007495 dystonia 5 skos:exactMatch OMIM:128230 dystonia, dopa-responsive semapv:UnspecifiedMatching MONDO:0007495 dystonia 5 skos:exactMatch SCTID:715768000 semapv:UnspecifiedMatching MONDO:0007495 dystonia 5 skos:exactMatch UMLS:C1851920 semapv:UnspecifiedMatching MONDO:0007496 dystonia 12 skos:exactMatch DOID:0090056 dystonia 12 semapv:UnspecifiedMatching MONDO:0007496 dystonia 12 skos:exactMatch MEDGEN:358384 semapv:UnspecifiedMatching MONDO:0007496 dystonia 12 skos:exactMatch NCIT:C157577 Dystonia 12 semapv:UnspecifiedMatching MONDO:0007496 dystonia 12 skos:exactMatch OMIM:128235 dystonia 12 semapv:UnspecifiedMatching MONDO:0007496 dystonia 12 skos:exactMatch Orphanet:71517 Rapid-onset dystonia-parkinsonism semapv:UnspecifiedMatching MONDO:0007496 dystonia 12 skos:exactMatch SCTID:702323008 semapv:UnspecifiedMatching MONDO:0007496 dystonia 12 skos:exactMatch UMLS:C1868681 semapv:UnspecifiedMatching MONDO:0007496 dystonia 12 skos:exactMatch mesh:C538001 semapv:UnspecifiedMatching MONDO:0007497 ear antitragus, tag at base of skos:exactMatch MEDGEN:343680 semapv:UnspecifiedMatching MONDO:0007497 ear antitragus, tag at base of skos:exactMatch OMIM:128290 ear antitragus, tag at base of semapv:UnspecifiedMatching MONDO:0007497 ear antitragus, tag at base of skos:exactMatch UMLS:C1851905 semapv:UnspecifiedMatching MONDO:0007498 ear exostoses skos:exactMatch MEDGEN:56363 semapv:UnspecifiedMatching MONDO:0007498 ear exostoses skos:exactMatch OMIM:128300 ear exostoses semapv:UnspecifiedMatching MONDO:0007498 ear exostoses skos:exactMatch UMLS:C0155411 semapv:UnspecifiedMatching MONDO:0007499 ear folding skos:exactMatch MEDGEN:377546 semapv:UnspecifiedMatching MONDO:0007499 ear folding skos:exactMatch OMIM:128500 ear folding semapv:UnspecifiedMatching MONDO:0007499 ear folding skos:exactMatch UMLS:C1851901 semapv:UnspecifiedMatching MONDO:0007500 ear malformation skos:exactMatch MEDGEN:75618 semapv:UnspecifiedMatching MONDO:0007500 ear malformation skos:exactMatch OMIM:128600 ear malformation semapv:UnspecifiedMatching MONDO:0007500 ear malformation skos:exactMatch SCTID:275259005 semapv:UnspecifiedMatching MONDO:0007500 ear malformation skos:exactMatch UMLS:C0266589 semapv:UnspecifiedMatching MONDO:0007501 preauricular fistulae, congenital skos:exactMatch MEDGEN:154283 semapv:UnspecifiedMatching MONDO:0007501 preauricular fistulae, congenital skos:exactMatch OMIM:128700 preauricular fistulae, congenital semapv:UnspecifiedMatching MONDO:0007501 preauricular fistulae, congenital skos:exactMatch UMLS:C0546969 semapv:UnspecifiedMatching MONDO:0007501 preauricular fistulae, congenital skos:exactMatch mesh:C563015 semapv:UnspecifiedMatching MONDO:0007502 ear pits, posterior helical skos:exactMatch MEDGEN:342119 semapv:UnspecifiedMatching MONDO:0007502 ear pits, posterior helical skos:exactMatch OMIM:128710 ear pits, posterior helical semapv:UnspecifiedMatching MONDO:0007502 ear pits, posterior helical skos:exactMatch UMLS:C1851900 semapv:UnspecifiedMatching MONDO:0007503 ear without helix skos:exactMatch MEDGEN:343678 semapv:UnspecifiedMatching MONDO:0007503 ear without helix skos:exactMatch OMIM:128800 ear without helix semapv:UnspecifiedMatching MONDO:0007503 ear without helix skos:exactMatch UMLS:C1851899 semapv:UnspecifiedMatching MONDO:0007504 thickened earlobes-conductive deafness syndrome skos:exactMatch MEDGEN:343676 semapv:UnspecifiedMatching MONDO:0007504 thickened earlobes-conductive deafness syndrome skos:exactMatch OMIM:128980 earlobes, thickened, with conductive deafness from incudostapedial abnormalities semapv:UnspecifiedMatching MONDO:0007504 thickened earlobes-conductive deafness syndrome skos:exactMatch Orphanet:2405 Thickened earlobes-conductive deafness syndrome semapv:UnspecifiedMatching MONDO:0007504 thickened earlobes-conductive deafness syndrome skos:exactMatch SCTID:722476007 semapv:UnspecifiedMatching MONDO:0007504 thickened earlobes-conductive deafness syndrome skos:exactMatch UMLS:C1851896 semapv:UnspecifiedMatching MONDO:0007505 obsolete earring holes, natural skos:exactMatch OMIM:129000 earring holes, natural semapv:UnspecifiedMatching MONDO:0007506 obsoleted echo virus 11 sensitivity skos:exactMatch OMIM:129150 echo virus 11 sensitivity semapv:UnspecifiedMatching MONDO:0007506 obsoleted echo virus 11 sensitivity skos:exactMatch mesh:C565071 semapv:UnspecifiedMatching MONDO:0007507 absence of fingerprints-congenital milia syndrome skos:exactMatch DOID:0080725 BASAN syndrome semapv:UnspecifiedMatching MONDO:0007507 absence of fingerprints-congenital milia syndrome skos:exactMatch MEDGEN:140808 semapv:UnspecifiedMatching MONDO:0007507 absence of fingerprints-congenital milia syndrome skos:exactMatch OMIM:129200 basan syndrome semapv:UnspecifiedMatching MONDO:0007507 absence of fingerprints-congenital milia syndrome skos:exactMatch Orphanet:1658 Absence of fingerprints-congenital milia syndrome semapv:UnspecifiedMatching MONDO:0007507 absence of fingerprints-congenital milia syndrome skos:exactMatch SCTID:239011004 semapv:UnspecifiedMatching MONDO:0007507 absence of fingerprints-congenital milia syndrome skos:exactMatch UMLS:C0406707 semapv:UnspecifiedMatching MONDO:0007507 absence of fingerprints-congenital milia syndrome skos:exactMatch icd11.foundation:1298640608 Absence of fingerprints-congenital milia syndrome semapv:UnspecifiedMatching MONDO:0007507 absence of fingerprints-congenital milia syndrome skos:exactMatch mesh:C537659 semapv:UnspecifiedMatching MONDO:0007508 Rapp-Hodgkin syndrome skos:exactMatch DOID:0060330 Rapp-Hodgkin syndrome semapv:UnspecifiedMatching MONDO:0007508 Rapp-Hodgkin syndrome skos:exactMatch MEDGEN:315656 semapv:UnspecifiedMatching MONDO:0007508 Rapp-Hodgkin syndrome skos:exactMatch OMIM:129400 rapp-hodgkin syndrome semapv:UnspecifiedMatching MONDO:0007508 Rapp-Hodgkin syndrome skos:exactMatch SCTID:7731005 semapv:UnspecifiedMatching MONDO:0007508 Rapp-Hodgkin syndrome skos:exactMatch UMLS:C1785148 semapv:UnspecifiedMatching MONDO:0007508 Rapp-Hodgkin syndrome skos:exactMatch icd11.foundation:1455333054 Rapp-Hodgkin syndrome semapv:UnspecifiedMatching MONDO:0007508 Rapp-Hodgkin syndrome skos:exactMatch mesh:C535289 semapv:UnspecifiedMatching MONDO:0007509 ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant skos:exactMatch DOID:0111663 ectodermal dysplasia 10A semapv:UnspecifiedMatching MONDO:0007509 ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant skos:exactMatch MEDGEN:854747 semapv:UnspecifiedMatching MONDO:0007509 ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant skos:exactMatch OMIM:129490 ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant semapv:UnspecifiedMatching MONDO:0007509 ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant skos:exactMatch UMLS:C3888065 semapv:UnspecifiedMatching MONDO:0007510 Clouston syndrome skos:exactMatch DOID:14693 Clouston syndrome semapv:UnspecifiedMatching MONDO:0007510 Clouston syndrome skos:exactMatch MEDGEN:56416 semapv:UnspecifiedMatching MONDO:0007510 Clouston syndrome skos:exactMatch OMIM:129500 clouston syndrome semapv:UnspecifiedMatching MONDO:0007510 Clouston syndrome skos:exactMatch Orphanet:189 Hidrotic ectodermal dysplasia semapv:UnspecifiedMatching MONDO:0007510 Clouston syndrome skos:exactMatch SCTID:54209007 semapv:UnspecifiedMatching MONDO:0007510 Clouston syndrome skos:exactMatch UMLS:C0162361 semapv:UnspecifiedMatching MONDO:0007511 ectodermal dysplasia, trichoodontoonychial type skos:exactMatch MEDGEN:338798 semapv:UnspecifiedMatching MONDO:0007511 ectodermal dysplasia, trichoodontoonychial type skos:exactMatch OMIM:129510 ectodermal dysplasia, trichoodontoonychial type semapv:UnspecifiedMatching MONDO:0007511 ectodermal dysplasia, trichoodontoonychial type skos:exactMatch Orphanet:1818 Ectodermal dysplasia, trichoodontoonychial type semapv:UnspecifiedMatching MONDO:0007511 ectodermal dysplasia, trichoodontoonychial type skos:exactMatch SCTID:734018003 semapv:UnspecifiedMatching MONDO:0007511 ectodermal dysplasia, trichoodontoonychial type skos:exactMatch UMLS:C1851858 semapv:UnspecifiedMatching MONDO:0007511 ectodermal dysplasia, trichoodontoonychial type skos:exactMatch mesh:C565068 semapv:UnspecifiedMatching MONDO:0007512 ectodermal dysplasia syndrome with distinctive facial appearance and preaxial polydactyly of feet skos:exactMatch MEDGEN:342107 semapv:UnspecifiedMatching MONDO:0007512 ectodermal dysplasia syndrome with distinctive facial appearance and preaxial polydactyly of feet skos:exactMatch OMIM:129540 ectodermal dysplasia syndrome with distinctive facial appearance and preaxial polydactyly of feet semapv:UnspecifiedMatching MONDO:0007512 ectodermal dysplasia syndrome with distinctive facial appearance and preaxial polydactyly of feet skos:exactMatch UMLS:C1851851 semapv:UnspecifiedMatching MONDO:0007512 ectodermal dysplasia syndrome with distinctive facial appearance and preaxial polydactyly of feet skos:exactMatch mesh:C565067 semapv:UnspecifiedMatching MONDO:0007513 ectodermal dysplasia with adrenal cyst skos:exactMatch MEDGEN:342106 semapv:UnspecifiedMatching MONDO:0007513 ectodermal dysplasia with adrenal cyst skos:exactMatch OMIM:129550 ectodermal dysplasia with adrenal cyst semapv:UnspecifiedMatching MONDO:0007513 ectodermal dysplasia with adrenal cyst skos:exactMatch UMLS:C1851850 semapv:UnspecifiedMatching MONDO:0007513 ectodermal dysplasia with adrenal cyst skos:exactMatch mesh:C538015 semapv:UnspecifiedMatching MONDO:0007514 ectopia lentis 1, isolated, autosomal dominant skos:exactMatch DOID:0111150 autosomal dominant isolated ectopia lentis 1 semapv:UnspecifiedMatching MONDO:0007514 ectopia lentis 1, isolated, autosomal dominant skos:exactMatch MEDGEN:762106 semapv:UnspecifiedMatching MONDO:0007514 ectopia lentis 1, isolated, autosomal dominant skos:exactMatch OMIM:129600 ectopia lentis 1, isolated, autosomal dominant semapv:UnspecifiedMatching MONDO:0007514 ectopia lentis 1, isolated, autosomal dominant skos:exactMatch UMLS:C3541518 semapv:UnspecifiedMatching MONDO:0007515 ectopia pupillae skos:exactMatch MEDGEN:224790 semapv:UnspecifiedMatching MONDO:0007515 ectopia pupillae skos:exactMatch OMIM:129750 ectopia pupillae semapv:UnspecifiedMatching MONDO:0007515 ectopia pupillae skos:exactMatch SCTID:193523008 semapv:UnspecifiedMatching MONDO:0007515 ectopia pupillae skos:exactMatch UMLS:C1271219 semapv:UnspecifiedMatching MONDO:0007515 ectopia pupillae skos:exactMatch icd11.foundation:70138444 Ectopia pupillae semapv:UnspecifiedMatching MONDO:0007515 ectopia pupillae skos:exactMatch mesh:C536185 semapv:UnspecifiedMatching MONDO:0007516 ectrodactyly and ectodermal dysplasia without cleft lip/palate skos:exactMatch MEDGEN:377536 semapv:UnspecifiedMatching MONDO:0007516 ectrodactyly and ectodermal dysplasia without cleft lip/palate skos:exactMatch OMIM:129810 ectrodactyly and ectodermal dysplasia without cleft lip/palate semapv:UnspecifiedMatching MONDO:0007516 ectrodactyly and ectodermal dysplasia without cleft lip/palate skos:exactMatch UMLS:C1851849 semapv:UnspecifiedMatching MONDO:0007516 ectrodactyly and ectodermal dysplasia without cleft lip/palate skos:exactMatch mesh:C565065 semapv:UnspecifiedMatching MONDO:0007517 ectrodactyly-cleft palate syndrome skos:exactMatch MEDGEN:342105 semapv:UnspecifiedMatching MONDO:0007517 ectrodactyly-cleft palate syndrome skos:exactMatch OMIM:129830 ectrodactyly-cleft palate syndrome semapv:UnspecifiedMatching MONDO:0007517 ectrodactyly-cleft palate syndrome skos:exactMatch UMLS:C1851848 semapv:UnspecifiedMatching MONDO:0007517 ectrodactyly-cleft palate syndrome skos:exactMatch mesh:C565064 semapv:UnspecifiedMatching MONDO:0007518 edema, familial idiopathic, prepubertal skos:exactMatch MEDGEN:377535 semapv:UnspecifiedMatching MONDO:0007518 edema, familial idiopathic, prepubertal skos:exactMatch OMIM:129840 edema, familial idiopathic, prepubertal semapv:UnspecifiedMatching MONDO:0007518 edema, familial idiopathic, prepubertal skos:exactMatch UMLS:C1851847 semapv:UnspecifiedMatching MONDO:0007518 edema, familial idiopathic, prepubertal skos:exactMatch mesh:C565063 semapv:UnspecifiedMatching MONDO:0007519 Edinburgh malformation syndrome skos:exactMatch MEDGEN:167084 semapv:UnspecifiedMatching MONDO:0007519 Edinburgh malformation syndrome skos:exactMatch OMIM:129850 edinburgh malformation syndrome semapv:UnspecifiedMatching MONDO:0007519 Edinburgh malformation syndrome skos:exactMatch Orphanet:1895 Edinburgh malformation syndrome semapv:UnspecifiedMatching MONDO:0007519 Edinburgh malformation syndrome skos:exactMatch UMLS:C0795933 semapv:UnspecifiedMatching MONDO:0007519 Edinburgh malformation syndrome skos:exactMatch mesh:C563051 semapv:UnspecifiedMatching MONDO:0007520 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 skos:exactMatch DOID:0060784 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 semapv:UnspecifiedMatching MONDO:0007520 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 skos:exactMatch MEDGEN:343663 semapv:UnspecifiedMatching MONDO:0007520 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 skos:exactMatch OMIM:129900 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 semapv:UnspecifiedMatching MONDO:0007520 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 skos:exactMatch UMLS:C1851841 semapv:UnspecifiedMatching MONDO:0007520 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 skos:exactMatch mesh:C565062 semapv:UnspecifiedMatching MONDO:0007521 obsolete egasyn skos:exactMatch OMIM:129905 egasyn semapv:UnspecifiedMatching MONDO:0007522 Ehlers-Danlos syndrome, classic type skos:exactMatch MEDGEN:909864 semapv:UnspecifiedMatching MONDO:0007522 Ehlers-Danlos syndrome, classic type skos:exactMatch Orphanet:287 Classical Ehlers-Danlos syndrome semapv:UnspecifiedMatching MONDO:0007522 Ehlers-Danlos syndrome, classic type skos:exactMatch SCTID:715318006 semapv:UnspecifiedMatching MONDO:0007522 Ehlers-Danlos syndrome, classic type skos:exactMatch UMLS:C4225429 semapv:UnspecifiedMatching MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type skos:exactMatch DOID:14757 Ehlers-Danlos syndrome hypermobility type semapv:UnspecifiedMatching MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type skos:exactMatch MEDGEN:75670 semapv:UnspecifiedMatching MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type skos:exactMatch NCIT:C125698 Ehlers-Danlos Syndrome, Type III semapv:UnspecifiedMatching MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type skos:exactMatch OMIM:130020 ehlers-danlos syndrome, hypermobility type semapv:UnspecifiedMatching MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type skos:exactMatch Orphanet:285 Hypermobile Ehlers-Danlos syndrome semapv:UnspecifiedMatching MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type skos:exactMatch SCTID:30652003 semapv:UnspecifiedMatching MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type skos:exactMatch UMLS:C0268337 semapv:UnspecifiedMatching MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type skos:exactMatch mesh:C536196 semapv:UnspecifiedMatching MONDO:0007524 autosomal dominant Ehlers-Danlos syndrome, vascular type skos:exactMatch DOID:14756 vascular type Ehlers-Danlos syndrome semapv:UnspecifiedMatching MONDO:0007524 autosomal dominant Ehlers-Danlos syndrome, vascular type skos:exactMatch MEDGEN:541286 semapv:UnspecifiedMatching MONDO:0007524 autosomal dominant Ehlers-Danlos syndrome, vascular type skos:exactMatch OMIM:130050 ehlers-danlos syndrome, vascular type semapv:UnspecifiedMatching MONDO:0007524 autosomal dominant Ehlers-Danlos syndrome, vascular type skos:exactMatch UMLS:C0268339 semapv:UnspecifiedMatching MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasia type skos:exactMatch DOID:0080727 Ehlers-Danlos syndrome arthrochalasia type 1 semapv:UnspecifiedMatching MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasia type skos:exactMatch MEDGEN:1645042 semapv:UnspecifiedMatching MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasia type skos:exactMatch NCIT:C125701 Ehlers-Danlos Syndrome, Type VII semapv:UnspecifiedMatching MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasia type skos:exactMatch Orphanet:1899 Arthrochalasia Ehlers-Danlos syndrome semapv:UnspecifiedMatching MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasia type skos:exactMatch SCTID:4170004 semapv:UnspecifiedMatching MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasia type skos:exactMatch UMLS:C4551623 semapv:UnspecifiedMatching MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasia type skos:exactMatch mesh:C562625 semapv:UnspecifiedMatching MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type skos:exactMatch DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 semapv:UnspecifiedMatching MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type skos:exactMatch Orphanet:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome semapv:UnspecifiedMatching MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type skos:exactMatch SCTID:720861000 semapv:UnspecifiedMatching MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type skos:exactMatch mesh:C536201 semapv:UnspecifiedMatching MONDO:0007527 Ehlers-Danlos syndrome, periodontitis type skos:exactMatch MEDGEN:82791 semapv:UnspecifiedMatching MONDO:0007527 Ehlers-Danlos syndrome, periodontitis type skos:exactMatch Orphanet:75392 Periodontal Ehlers-Danlos syndrome semapv:UnspecifiedMatching MONDO:0007527 Ehlers-Danlos syndrome, periodontitis type skos:exactMatch SCTID:50869007 semapv:UnspecifiedMatching MONDO:0007527 Ehlers-Danlos syndrome, periodontitis type skos:exactMatch UMLS:C0268347 semapv:UnspecifiedMatching MONDO:0007527 Ehlers-Danlos syndrome, periodontitis type skos:exactMatch icd11.foundation:893527307 Ehlers-Danlos syndrome, periodontitis type semapv:UnspecifiedMatching MONDO:0007527 Ehlers-Danlos syndrome, periodontitis type skos:exactMatch mesh:C562626 semapv:UnspecifiedMatching MONDO:0007528 Ehlers-Danlos syndrome, autosomal dominant, type unspecified skos:exactMatch MEDGEN:65083 semapv:UnspecifiedMatching MONDO:0007528 Ehlers-Danlos syndrome, autosomal dominant, type unspecified skos:exactMatch OMIM:130090 ehlers-danlos syndrome, autosomal dominant, type unspecified semapv:UnspecifiedMatching MONDO:0007528 Ehlers-Danlos syndrome, autosomal dominant, type unspecified skos:exactMatch UMLS:C0220679 semapv:UnspecifiedMatching MONDO:0007528 Ehlers-Danlos syndrome, autosomal dominant, type unspecified skos:exactMatch mesh:C562424 semapv:UnspecifiedMatching MONDO:0007529 elastosis perforans serpiginosa skos:exactMatch ICD10CM:L87.2 Elastosis perforans serpiginosa semapv:UnspecifiedMatching MONDO:0007529 elastosis perforans serpiginosa skos:exactMatch MEDGEN:65137 semapv:UnspecifiedMatching MONDO:0007529 elastosis perforans serpiginosa skos:exactMatch OMIM:130100 elastosis perforans serpiginosa semapv:UnspecifiedMatching MONDO:0007529 elastosis perforans serpiginosa skos:exactMatch Orphanet:79148 Elastosis perforans serpiginosa semapv:UnspecifiedMatching MONDO:0007529 elastosis perforans serpiginosa skos:exactMatch SCTID:49428008 semapv:UnspecifiedMatching MONDO:0007529 elastosis perforans serpiginosa skos:exactMatch UMLS:C0221271 semapv:UnspecifiedMatching MONDO:0007529 elastosis perforans serpiginosa skos:exactMatch icd11.foundation:1430012917 Elastosis perforans serpiginosa semapv:UnspecifiedMatching MONDO:0007529 elastosis perforans serpiginosa skos:exactMatch mesh:C536202 semapv:UnspecifiedMatching MONDO:0007530 electroencephalographic peculiarity: 14 and 6 per sec. positive spike phenomenon skos:exactMatch MEDGEN:377516 semapv:UnspecifiedMatching MONDO:0007530 electroencephalographic peculiarity: 14 and 6 per sec. positive spike phenomenon skos:exactMatch OMIM:130200 electroencephalographic peculiarity: 14 and 6 per sec. positive spike phenomenon semapv:UnspecifiedMatching MONDO:0007530 electroencephalographic peculiarity: 14 and 6 per sec. positive spike phenomenon skos:exactMatch UMLS:C1851757 semapv:UnspecifiedMatching MONDO:0007531 electroencephalographic peculiarity: fronto-precentral beta wave groups skos:exactMatch MEDGEN:343646 semapv:UnspecifiedMatching MONDO:0007531 electroencephalographic peculiarity: fronto-precentral beta wave groups skos:exactMatch OMIM:130300 electroencephalographic peculiarity: fronto-precentral beta wave groups semapv:UnspecifiedMatching MONDO:0007531 electroencephalographic peculiarity: fronto-precentral beta wave groups skos:exactMatch UMLS:C1851756 semapv:UnspecifiedMatching MONDO:0007532 obsolete Electroencephalographic peculiarity: occipital slow beta waves skos:exactMatch OMIM:130400 electroencephalographic peculiarity: occipital slow beta waves semapv:UnspecifiedMatching MONDO:0007533 elliptocytosis 2 skos:exactMatch MEDGEN:343643 semapv:UnspecifiedMatching MONDO:0007533 elliptocytosis 2 skos:exactMatch OMIM:130600 elliptocytosis 2 semapv:UnspecifiedMatching MONDO:0007533 elliptocytosis 2 skos:exactMatch UMLS:C1851741 semapv:UnspecifiedMatching MONDO:0007533 elliptocytosis 2 skos:exactMatch mesh:C565058 semapv:UnspecifiedMatching MONDO:0007534 Beckwith-Wiedemann syndrome skos:exactMatch DOID:5572 Beckwith-Wiedemann syndrome semapv:UnspecifiedMatching MONDO:0007534 Beckwith-Wiedemann syndrome skos:exactMatch MEDGEN:2562 semapv:UnspecifiedMatching MONDO:0007534 Beckwith-Wiedemann syndrome skos:exactMatch NCIT:C34415 Beckwith-Wiedemann Syndrome semapv:UnspecifiedMatching MONDO:0007534 Beckwith-Wiedemann syndrome skos:exactMatch OMIM:130650 beckwith-wiedemann syndrome semapv:UnspecifiedMatching MONDO:0007534 Beckwith-Wiedemann syndrome skos:exactMatch Orphanet:116 Beckwith-Wiedemann syndrome semapv:UnspecifiedMatching MONDO:0007534 Beckwith-Wiedemann syndrome skos:exactMatch SCTID:81780002 semapv:UnspecifiedMatching MONDO:0007534 Beckwith-Wiedemann syndrome skos:exactMatch UMLS:C0004903 semapv:UnspecifiedMatching MONDO:0007534 Beckwith-Wiedemann syndrome skos:exactMatch icd11.foundation:803086260 Beckwith-Wiedemann syndrome semapv:UnspecifiedMatching MONDO:0007534 Beckwith-Wiedemann syndrome skos:exactMatch mesh:D001506 semapv:UnspecifiedMatching MONDO:0007535 emphysema, hereditary pulmonary skos:exactMatch MEDGEN:502241 semapv:UnspecifiedMatching MONDO:0007535 emphysema, hereditary pulmonary skos:exactMatch OMIM:130700 emphysema, hereditary pulmonary semapv:UnspecifiedMatching MONDO:0007535 emphysema, hereditary pulmonary skos:exactMatch UMLS:C3501835 semapv:UnspecifiedMatching MONDO:0007535 emphysema, hereditary pulmonary skos:exactMatch mesh:C565057 semapv:UnspecifiedMatching MONDO:0007536 congenital lobar emphysema skos:exactMatch MEDGEN:120557 semapv:UnspecifiedMatching MONDO:0007536 congenital lobar emphysema skos:exactMatch NCIT:C98895 Congenital Lobar Emphysema semapv:UnspecifiedMatching MONDO:0007536 congenital lobar emphysema skos:exactMatch OMIM:130710 emphysema, congenital lobar semapv:UnspecifiedMatching MONDO:0007536 congenital lobar emphysema skos:exactMatch Orphanet:1928 Congenital lobar emphysema semapv:UnspecifiedMatching MONDO:0007536 congenital lobar emphysema skos:exactMatch SCTID:66987001 semapv:UnspecifiedMatching MONDO:0007536 congenital lobar emphysema skos:exactMatch UMLS:C0265797 semapv:UnspecifiedMatching MONDO:0007536 congenital lobar emphysema skos:exactMatch icd11.foundation:685349915 Congenital lobar emphysema semapv:UnspecifiedMatching MONDO:0007536 congenital lobar emphysema skos:exactMatch mesh:C535735 semapv:UnspecifiedMatching MONDO:0007537 lateral meningocele syndrome skos:exactMatch DOID:0111343 lateral meningocele syndrome semapv:UnspecifiedMatching MONDO:0007537 lateral meningocele syndrome skos:exactMatch MEDGEN:342070 semapv:UnspecifiedMatching MONDO:0007537 lateral meningocele syndrome skos:exactMatch OMIM:130720 lateral meningocele syndrome semapv:UnspecifiedMatching MONDO:0007537 lateral meningocele syndrome skos:exactMatch Orphanet:2789 Lateral meningocele syndrome semapv:UnspecifiedMatching MONDO:0007537 lateral meningocele syndrome skos:exactMatch UMLS:C1851710 semapv:UnspecifiedMatching MONDO:0007537 lateral meningocele syndrome skos:exactMatch mesh:C537878 semapv:UnspecifiedMatching MONDO:0007538 amelogenesis imperfecta, type 3A skos:exactMatch DOID:0110055 amelogenesis imperfecta type 3A semapv:UnspecifiedMatching MONDO:0007538 amelogenesis imperfecta, type 3A skos:exactMatch MEDGEN:1854533 semapv:UnspecifiedMatching MONDO:0007538 amelogenesis imperfecta, type 3A skos:exactMatch OMIM:130900 amelogenesis imperfecta, type 3a semapv:UnspecifiedMatching MONDO:0007538 amelogenesis imperfecta, type 3A skos:exactMatch SCTID:109471001 semapv:UnspecifiedMatching MONDO:0007538 amelogenesis imperfecta, type 3A skos:exactMatch UMLS:C5886770 semapv:UnspecifiedMatching MONDO:0007538 amelogenesis imperfecta, type 3A skos:exactMatch mesh:C562880 semapv:UnspecifiedMatching MONDO:0007539 encephalopathy, recurrent, of childhood skos:exactMatch MEDGEN:342069 semapv:UnspecifiedMatching MONDO:0007539 encephalopathy, recurrent, of childhood skos:exactMatch OMIM:130950 encephalopathy, recurrent, of childhood semapv:UnspecifiedMatching MONDO:0007539 encephalopathy, recurrent, of childhood skos:exactMatch Orphanet:2672 Neuhauser-Eichner-Opitz syndrome semapv:UnspecifiedMatching MONDO:0007539 encephalopathy, recurrent, of childhood skos:exactMatch UMLS:C1851708 semapv:UnspecifiedMatching MONDO:0007539 encephalopathy, recurrent, of childhood skos:exactMatch mesh:C536407 semapv:UnspecifiedMatching MONDO:0007540 multiple endocrine neoplasia type 1 skos:exactMatch DOID:10017 multiple endocrine neoplasia type 1 semapv:UnspecifiedMatching MONDO:0007540 multiple endocrine neoplasia type 1 skos:exactMatch ICD10CM:E31.21 Multiple endocrine neoplasia [MEN] type I semapv:UnspecifiedMatching MONDO:0007540 multiple endocrine neoplasia type 1 skos:exactMatch MEDGEN:9957 semapv:UnspecifiedMatching MONDO:0007540 multiple endocrine neoplasia type 1 skos:exactMatch NCIT:C3225 Multiple Endocrine Neoplasia Type 1 semapv:UnspecifiedMatching MONDO:0007540 multiple endocrine neoplasia type 1 skos:exactMatch OMIM:131100 multiple endocrine neoplasia, type 1 semapv:UnspecifiedMatching MONDO:0007540 multiple endocrine neoplasia type 1 skos:exactMatch Orphanet:652 Multiple endocrine neoplasia type 1 semapv:UnspecifiedMatching MONDO:0007540 multiple endocrine neoplasia type 1 skos:exactMatch SCTID:30664006 semapv:UnspecifiedMatching MONDO:0007540 multiple endocrine neoplasia type 1 skos:exactMatch UMLS:C0025267 semapv:UnspecifiedMatching MONDO:0007540 multiple endocrine neoplasia type 1 skos:exactMatch icd11.foundation:1638765741 Multiple endocrine neoplasia type 1 semapv:UnspecifiedMatching MONDO:0007540 multiple endocrine neoplasia type 1 skos:exactMatch mesh:D018761 semapv:UnspecifiedMatching MONDO:0007541 endometriosis, susceptibility to, 1 skos:exactMatch MEDGEN:338749 semapv:UnspecifiedMatching MONDO:0007541 endometriosis, susceptibility to, 1 skos:exactMatch OMIM:131200 endometriosis, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0007541 endometriosis, susceptibility to, 1 skos:exactMatch UMLS:C1851649 semapv:UnspecifiedMatching MONDO:0007542 Camurati-Engelmann disease skos:exactMatch DOID:4997 Camurati-Engelmann disease semapv:UnspecifiedMatching MONDO:0007542 Camurati-Engelmann disease skos:exactMatch ICD10CM:Q78.3 Progressive diaphyseal dysplasia semapv:UnspecifiedMatching MONDO:0007542 Camurati-Engelmann disease skos:exactMatch MEDGEN:4268 semapv:UnspecifiedMatching MONDO:0007542 Camurati-Engelmann disease skos:exactMatch NCIT:C84610 Camurati-Engelmann Syndrome semapv:UnspecifiedMatching MONDO:0007542 Camurati-Engelmann disease skos:exactMatch OMIMPS:131300 Camurati-Engelmann disease semapv:UnspecifiedMatching MONDO:0007542 Camurati-Engelmann disease skos:exactMatch Orphanet:1328 Camurati-Engelmann disease semapv:UnspecifiedMatching MONDO:0007542 Camurati-Engelmann disease skos:exactMatch SCTID:318761000119105 semapv:UnspecifiedMatching MONDO:0007542 Camurati-Engelmann disease skos:exactMatch UMLS:C0011989 semapv:UnspecifiedMatching MONDO:0007544 eosinophilia, familial skos:exactMatch MEDGEN:78796 semapv:UnspecifiedMatching MONDO:0007544 eosinophilia, familial skos:exactMatch OMIM:131400 eosinophilia, familial semapv:UnspecifiedMatching MONDO:0007544 eosinophilia, familial skos:exactMatch SCTID:79336007 semapv:UnspecifiedMatching MONDO:0007544 eosinophilia, familial skos:exactMatch UMLS:C0272192 semapv:UnspecifiedMatching MONDO:0007544 eosinophilia, familial skos:exactMatch mesh:C562722 semapv:UnspecifiedMatching MONDO:0007545 Eosinophilopenia skos:exactMatch MEDGEN:343610 semapv:UnspecifiedMatching MONDO:0007545 Eosinophilopenia skos:exactMatch OMIM:131430 eosinophilopenia semapv:UnspecifiedMatching MONDO:0007545 Eosinophilopenia skos:exactMatch UMLS:C1851586 semapv:UnspecifiedMatching MONDO:0007546 myeloproliferative disorder, chronic, with eosinophilia skos:exactMatch DOID:0111344 myeloproliferative disorder with eosinophilia semapv:UnspecifiedMatching MONDO:0007546 myeloproliferative disorder, chronic, with eosinophilia skos:exactMatch MEDGEN:377060 semapv:UnspecifiedMatching MONDO:0007546 myeloproliferative disorder, chronic, with eosinophilia skos:exactMatch OMIM:131440 myeloproliferative disorder, chronic, with eosinophilia semapv:UnspecifiedMatching MONDO:0007546 myeloproliferative disorder, chronic, with eosinophilia skos:exactMatch UMLS:C1851585 semapv:UnspecifiedMatching MONDO:0007546 myeloproliferative disorder, chronic, with eosinophilia skos:exactMatch mesh:C565054 semapv:UnspecifiedMatching MONDO:0007547 epidermoid cysts skos:exactMatch ICD10CM:L72.0 Epidermal cyst semapv:UnspecifiedMatching MONDO:0007547 epidermoid cysts skos:exactMatch MEDGEN:41829 semapv:UnspecifiedMatching MONDO:0007547 epidermoid cysts skos:exactMatch NCIT:C3134 Epidermal Inclusion Cyst semapv:UnspecifiedMatching MONDO:0007547 epidermoid cysts skos:exactMatch OMIM:131600 epidermoid cysts semapv:UnspecifiedMatching MONDO:0007547 epidermoid cysts skos:exactMatch SCTID:419893006 semapv:UnspecifiedMatching MONDO:0007547 epidermoid cysts skos:exactMatch UMLS:C0014511 semapv:UnspecifiedMatching MONDO:0007547 epidermoid cysts skos:exactMatch mesh:D004814 semapv:UnspecifiedMatching MONDO:0007548 transient bullous dermolysis of the newborn skos:exactMatch DOID:0111345 transient bullous dermolysis of the newborn semapv:UnspecifiedMatching MONDO:0007548 transient bullous dermolysis of the newborn skos:exactMatch MEDGEN:343607 semapv:UnspecifiedMatching MONDO:0007548 transient bullous dermolysis of the newborn skos:exactMatch OMIM:131705 transient bullous dermolysis of the newborn semapv:UnspecifiedMatching MONDO:0007548 transient bullous dermolysis of the newborn skos:exactMatch Orphanet:79411 Self-improving dystrophic epidermolysis bullosa semapv:UnspecifiedMatching MONDO:0007548 transient bullous dermolysis of the newborn skos:exactMatch UMLS:C1851573 semapv:UnspecifiedMatching MONDO:0007548 transient bullous dermolysis of the newborn skos:exactMatch mesh:C536979 semapv:UnspecifiedMatching MONDO:0007549 generalized dominant dystrophic epidermolysis bullosa skos:exactMatch DOID:0080224 autosomal dominant dystrophic epidermolysis bullosa semapv:UnspecifiedMatching MONDO:0007549 generalized dominant dystrophic epidermolysis bullosa skos:exactMatch MEDGEN:140935 semapv:UnspecifiedMatching MONDO:0007549 generalized dominant dystrophic epidermolysis bullosa skos:exactMatch OMIM:131750 epidermolysis bullosa dystrophica, autosomal dominant semapv:UnspecifiedMatching MONDO:0007549 generalized dominant dystrophic epidermolysis bullosa skos:exactMatch Orphanet:231568 Autosomal dominant generalized dystrophic epidermolysis bullosa semapv:UnspecifiedMatching MONDO:0007549 generalized dominant dystrophic epidermolysis bullosa skos:exactMatch SCTID:75875004 semapv:UnspecifiedMatching MONDO:0007549 generalized dominant dystrophic epidermolysis bullosa skos:exactMatch UMLS:C0432322 semapv:UnspecifiedMatching MONDO:0007550 epidermolysis bullosa simplex 1A, generalized severe skos:exactMatch DOID:0060735 epidermolysis bullosa simplex Dowling-Meara type semapv:UnspecifiedMatching MONDO:0007550 epidermolysis bullosa simplex 1A, generalized severe skos:exactMatch MEDGEN:38194 semapv:UnspecifiedMatching MONDO:0007550 epidermolysis bullosa simplex 1A, generalized severe skos:exactMatch OMIM:131760 epidermolysis bullosa simplex 1a, generalized severe semapv:UnspecifiedMatching MONDO:0007550 epidermolysis bullosa simplex 1A, generalized severe skos:exactMatch Orphanet:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form semapv:UnspecifiedMatching MONDO:0007550 epidermolysis bullosa simplex 1A, generalized severe skos:exactMatch SCTID:254179000 semapv:UnspecifiedMatching MONDO:0007550 epidermolysis bullosa simplex 1A, generalized severe skos:exactMatch UMLS:C0079295 semapv:UnspecifiedMatching MONDO:0007551 epidermolysis bullosa simplex 1C, localized skos:exactMatch DOID:0080510 epidermolysis bullosa simplex localized type semapv:UnspecifiedMatching MONDO:0007551 epidermolysis bullosa simplex 1C, localized skos:exactMatch MEDGEN:87016 semapv:UnspecifiedMatching MONDO:0007551 epidermolysis bullosa simplex 1C, localized skos:exactMatch OMIM:131800 epidermolysis bullosa simplex 1c, localized semapv:UnspecifiedMatching MONDO:0007551 epidermolysis bullosa simplex 1C, localized skos:exactMatch Orphanet:79400 Localized epidermolysis bullosa simplex semapv:UnspecifiedMatching MONDO:0007551 epidermolysis bullosa simplex 1C, localized skos:exactMatch SCTID:294705005 semapv:UnspecifiedMatching MONDO:0007551 epidermolysis bullosa simplex 1C, localized skos:exactMatch UMLS:C0080333 semapv:UnspecifiedMatching MONDO:0007552 pretibial dystrophic epidermolysis bullosa skos:exactMatch DOID:0080988 pretibial dystrophic epidermolysis bullosa semapv:UnspecifiedMatching MONDO:0007552 pretibial dystrophic epidermolysis bullosa skos:exactMatch MEDGEN:98154 semapv:UnspecifiedMatching MONDO:0007552 pretibial dystrophic epidermolysis bullosa skos:exactMatch OMIM:131850 epidermolysis bullosa dystrophica, pretibial semapv:UnspecifiedMatching MONDO:0007552 pretibial dystrophic epidermolysis bullosa skos:exactMatch Orphanet:79410 Localized dystrophic epidermolysis bullosa, pretibial form semapv:UnspecifiedMatching MONDO:0007552 pretibial dystrophic epidermolysis bullosa skos:exactMatch SCTID:67653003 semapv:UnspecifiedMatching MONDO:0007552 pretibial dystrophic epidermolysis bullosa skos:exactMatch UMLS:C0432321 semapv:UnspecifiedMatching MONDO:0007552 pretibial dystrophic epidermolysis bullosa skos:exactMatch mesh:C535494 semapv:UnspecifiedMatching MONDO:0007553 epidermolysis bullosa with deficiency of galactosylhydroxylysyl glucosyltransferase skos:exactMatch MEDGEN:342036 semapv:UnspecifiedMatching MONDO:0007553 epidermolysis bullosa with deficiency of galactosylhydroxylysyl glucosyltransferase skos:exactMatch OMIM:131880 epidermolysis bullosa with deficiency of galactosylhydroxylysyl glucosyltransferase semapv:UnspecifiedMatching MONDO:0007553 epidermolysis bullosa with deficiency of galactosylhydroxylysyl glucosyltransferase skos:exactMatch UMLS:C1851570 semapv:UnspecifiedMatching MONDO:0007553 epidermolysis bullosa with deficiency of galactosylhydroxylysyl glucosyltransferase skos:exactMatch mesh:C565049 semapv:UnspecifiedMatching MONDO:0007554 epidermolysis bullosa simplex 1B, generalized intermediate skos:exactMatch DOID:0080511 epidermolysis bullosa simplex generalized type semapv:UnspecifiedMatching MONDO:0007554 epidermolysis bullosa simplex 1B, generalized intermediate skos:exactMatch MEDGEN:1794134 semapv:UnspecifiedMatching MONDO:0007554 epidermolysis bullosa simplex 1B, generalized intermediate skos:exactMatch OMIM:131900 epidermolysis bullosa simplex 1b, generalized intermediate semapv:UnspecifiedMatching MONDO:0007554 epidermolysis bullosa simplex 1B, generalized intermediate skos:exactMatch Orphanet:79399 Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form semapv:UnspecifiedMatching MONDO:0007554 epidermolysis bullosa simplex 1B, generalized intermediate skos:exactMatch SCTID:90496008 semapv:UnspecifiedMatching MONDO:0007554 epidermolysis bullosa simplex 1B, generalized intermediate skos:exactMatch UMLS:C5561924 semapv:UnspecifiedMatching MONDO:0007555 epidermolysis bullosa simplex 5A, Ogna type skos:exactMatch DOID:0060736 epidermolysis bullosa simplex Ogna type semapv:UnspecifiedMatching MONDO:0007555 epidermolysis bullosa simplex 5A, Ogna type skos:exactMatch MEDGEN:98488 semapv:UnspecifiedMatching MONDO:0007555 epidermolysis bullosa simplex 5A, Ogna type skos:exactMatch OMIM:131950 epidermolysis bullosa simplex 5a, ogna type semapv:UnspecifiedMatching MONDO:0007555 epidermolysis bullosa simplex 5A, Ogna type skos:exactMatch Orphanet:79401 PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement semapv:UnspecifiedMatching MONDO:0007555 epidermolysis bullosa simplex 5A, Ogna type skos:exactMatch SCTID:398071000 semapv:UnspecifiedMatching MONDO:0007555 epidermolysis bullosa simplex 5A, Ogna type skos:exactMatch UMLS:C0432317 semapv:UnspecifiedMatching MONDO:0007555 epidermolysis bullosa simplex 5A, Ogna type skos:exactMatch mesh:C535962 semapv:UnspecifiedMatching MONDO:0007556 epidermolysis bullosa simplex 2F, with mottled pigmentation skos:exactMatch DOID:0111346 epidermolysis bullosa simplex with mottled pigmentation semapv:UnspecifiedMatching MONDO:0007556 epidermolysis bullosa simplex 2F, with mottled pigmentation skos:exactMatch MEDGEN:140934 semapv:UnspecifiedMatching MONDO:0007556 epidermolysis bullosa simplex 2F, with mottled pigmentation skos:exactMatch OMIM:131960 epidermolysis bullosa simplex 2f, with mottled pigmentation semapv:UnspecifiedMatching MONDO:0007556 epidermolysis bullosa simplex 2F, with mottled pigmentation skos:exactMatch Orphanet:79397 Epidermolysis bullosa simplex with mottled pigmentation semapv:UnspecifiedMatching MONDO:0007556 epidermolysis bullosa simplex 2F, with mottled pigmentation skos:exactMatch SCTID:254180002 semapv:UnspecifiedMatching MONDO:0007556 epidermolysis bullosa simplex 2F, with mottled pigmentation skos:exactMatch UMLS:C0432316 semapv:UnspecifiedMatching MONDO:0007556 epidermolysis bullosa simplex 2F, with mottled pigmentation skos:exactMatch mesh:C535959 semapv:UnspecifiedMatching MONDO:0007557 epidermolysis bullosa with congenital localized absence of skin and deformity of nails skos:exactMatch DOID:0111347 epidermolysis bullosa with congenital localized absence of skin and deformity of nails semapv:UnspecifiedMatching MONDO:0007557 epidermolysis bullosa with congenital localized absence of skin and deformity of nails skos:exactMatch MEDGEN:82797 semapv:UnspecifiedMatching MONDO:0007557 epidermolysis bullosa with congenital localized absence of skin and deformity of nails skos:exactMatch OMIM:132000 epidermolysis bullosa with congenital localized absence of skin and deformity of nails semapv:UnspecifiedMatching MONDO:0007557 epidermolysis bullosa with congenital localized absence of skin and deformity of nails skos:exactMatch SCTID:2689001 semapv:UnspecifiedMatching MONDO:0007557 epidermolysis bullosa with congenital localized absence of skin and deformity of nails skos:exactMatch UMLS:C0268371 semapv:UnspecifiedMatching MONDO:0007557 epidermolysis bullosa with congenital localized absence of skin and deformity of nails skos:exactMatch mesh:C562638 semapv:UnspecifiedMatching MONDO:0007558 self-limited childhood occipital epilepsy skos:exactMatch MEDGEN:377052 semapv:UnspecifiedMatching MONDO:0007558 self-limited childhood occipital epilepsy skos:exactMatch OMIM:132090 epilepsy, benign occipital semapv:UnspecifiedMatching MONDO:0007558 self-limited childhood occipital epilepsy skos:exactMatch Orphanet:25968 Self-limited childhood occipital epilepsy semapv:UnspecifiedMatching MONDO:0007558 self-limited childhood occipital epilepsy skos:exactMatch UMLS:C1851549 semapv:UnspecifiedMatching MONDO:0007558 self-limited childhood occipital epilepsy skos:exactMatch icd11.foundation:49954675 Benign occipital epilepsy semapv:UnspecifiedMatching MONDO:0007559 photoparoxysmal response 1 skos:exactMatch MEDGEN:358382 semapv:UnspecifiedMatching MONDO:0007559 photoparoxysmal response 1 skos:exactMatch OMIM:132100 photoparoxysmal response 1 semapv:UnspecifiedMatching MONDO:0007559 photoparoxysmal response 1 skos:exactMatch UMLS:C1868677 semapv:UnspecifiedMatching MONDO:0007560 reading seizures skos:exactMatch MEDGEN:75817 semapv:UnspecifiedMatching MONDO:0007560 reading seizures skos:exactMatch OMIM:132300 epilepsy, reading semapv:UnspecifiedMatching MONDO:0007560 reading seizures skos:exactMatch Orphanet:166433 Epilepsy with reading-induced seizures semapv:UnspecifiedMatching MONDO:0007560 reading seizures skos:exactMatch UMLS:C0278193 semapv:UnspecifiedMatching MONDO:0007561 multiple epiphyseal dysplasia type 1 skos:exactMatch DOID:0070303 multiple epiphyseal dysplasia 1 semapv:UnspecifiedMatching MONDO:0007561 multiple epiphyseal dysplasia type 1 skos:exactMatch MEDGEN:325376 semapv:UnspecifiedMatching MONDO:0007561 multiple epiphyseal dysplasia type 1 skos:exactMatch OMIM:132400 epiphyseal dysplasia, multiple, 1 semapv:UnspecifiedMatching MONDO:0007561 multiple epiphyseal dysplasia type 1 skos:exactMatch Orphanet:93308 Multiple epiphyseal dysplasia type 1 semapv:UnspecifiedMatching MONDO:0007561 multiple epiphyseal dysplasia type 1 skos:exactMatch SCTID:715673002 semapv:UnspecifiedMatching MONDO:0007561 multiple epiphyseal dysplasia type 1 skos:exactMatch UMLS:C1838280 semapv:UnspecifiedMatching MONDO:0007561 multiple epiphyseal dysplasia type 1 skos:exactMatch icd11.foundation:2130489957 Multiple epiphyseal dysplasia type 1 semapv:UnspecifiedMatching MONDO:0007562 multiple epiphyseal dysplasia, Beighton type skos:exactMatch DOID:0111348 multiple epiphyseal dysplasia with myopia and deafness semapv:UnspecifiedMatching MONDO:0007562 multiple epiphyseal dysplasia, Beighton type skos:exactMatch MEDGEN:377049 semapv:UnspecifiedMatching MONDO:0007562 multiple epiphyseal dysplasia, Beighton type skos:exactMatch OMIM:132450 epiphyseal dysplasia, multiple, with myopia and conductive deafness semapv:UnspecifiedMatching MONDO:0007562 multiple epiphyseal dysplasia, Beighton type skos:exactMatch SCTID:719689005 semapv:UnspecifiedMatching MONDO:0007562 multiple epiphyseal dysplasia, Beighton type skos:exactMatch UMLS:C1851536 semapv:UnspecifiedMatching MONDO:0007562 multiple epiphyseal dysplasia, Beighton type skos:exactMatch icd11.foundation:1115252418 Multiple epiphyseal dysplasia, Beighton type semapv:UnspecifiedMatching MONDO:0007562 multiple epiphyseal dysplasia, Beighton type skos:exactMatch mesh:C565046 semapv:UnspecifiedMatching MONDO:0007564 pilomatrixoma skos:exactMatch DOID:5374 pilomatrixoma semapv:UnspecifiedMatching MONDO:0007564 pilomatrixoma skos:exactMatch EFO:0009082 semapv:UnspecifiedMatching MONDO:0007564 pilomatrixoma skos:exactMatch MEDGEN:61666 semapv:UnspecifiedMatching MONDO:0007564 pilomatrixoma skos:exactMatch NCIT:C7368 Pilomatricoma semapv:UnspecifiedMatching MONDO:0007564 pilomatrixoma skos:exactMatch OMIM:132600 pilomatrixoma semapv:UnspecifiedMatching MONDO:0007564 pilomatrixoma skos:exactMatch Orphanet:91414 Pilomatrixoma semapv:UnspecifiedMatching MONDO:0007564 pilomatrixoma skos:exactMatch SCTID:274901004 semapv:UnspecifiedMatching MONDO:0007564 pilomatrixoma skos:exactMatch UMLS:C0206711 semapv:UnspecifiedMatching MONDO:0007564 pilomatrixoma skos:exactMatch icd11.foundation:378820295 Pilomatrixoma semapv:UnspecifiedMatching MONDO:0007564 pilomatrixoma skos:exactMatch mesh:D018296 semapv:UnspecifiedMatching MONDO:0007565 familial cylindromatosis skos:exactMatch MEDGEN:343593 semapv:UnspecifiedMatching MONDO:0007565 familial cylindromatosis skos:exactMatch NCIT:C43352 Brooke-Spiegler Syndrome semapv:UnspecifiedMatching MONDO:0007565 familial cylindromatosis skos:exactMatch OMIM:132700 cylindromatosis, familial semapv:UnspecifiedMatching MONDO:0007565 familial cylindromatosis skos:exactMatch Orphanet:211 Familial cylindromatosis semapv:UnspecifiedMatching MONDO:0007565 familial cylindromatosis skos:exactMatch UMLS:C1851526 semapv:UnspecifiedMatching MONDO:0007565 familial cylindromatosis skos:exactMatch mesh:C536611 semapv:UnspecifiedMatching MONDO:0007566 multiple self-healing squamous epithelioma skos:exactMatch DOID:5585 Ferguson-Smith tumor semapv:UnspecifiedMatching MONDO:0007566 multiple self-healing squamous epithelioma skos:exactMatch MEDGEN:154270 semapv:UnspecifiedMatching MONDO:0007566 multiple self-healing squamous epithelioma skos:exactMatch NCIT:C4461 Multiple Self-Healing Squamous Epithelioma semapv:UnspecifiedMatching MONDO:0007566 multiple self-healing squamous epithelioma skos:exactMatch OMIM:132800 multiple self-healing squamous epithelioma, susceptibility to semapv:UnspecifiedMatching MONDO:0007566 multiple self-healing squamous epithelioma skos:exactMatch Orphanet:65748 Multiple self-healing squamous epithelioma semapv:UnspecifiedMatching MONDO:0007566 multiple self-healing squamous epithelioma skos:exactMatch SCTID:254659009 semapv:UnspecifiedMatching MONDO:0007566 multiple self-healing squamous epithelioma skos:exactMatch UMLS:C0546476 semapv:UnspecifiedMatching MONDO:0007566 multiple self-healing squamous epithelioma skos:exactMatch mesh:C536150 semapv:UnspecifiedMatching MONDO:0007567 obsolete Epstein-Barr virus insertion site 1 skos:exactMatch OMIM:132850 epstein-barr virus insertion site 1 semapv:UnspecifiedMatching MONDO:0007568 aortic aneurysm, familial thoracic 4 skos:exactMatch MEDGEN:338704 semapv:UnspecifiedMatching MONDO:0007568 aortic aneurysm, familial thoracic 4 skos:exactMatch OMIM:132900 aortic aneurysm, familial thoracic 4 semapv:UnspecifiedMatching MONDO:0007568 aortic aneurysm, familial thoracic 4 skos:exactMatch UMLS:C1851504 semapv:UnspecifiedMatching MONDO:0007568 aortic aneurysm, familial thoracic 4 skos:exactMatch mesh:C537784 semapv:UnspecifiedMatching MONDO:0007569 erythema nodosum, familial skos:exactMatch MEDGEN:377045 semapv:UnspecifiedMatching MONDO:0007569 erythema nodosum, familial skos:exactMatch OMIM:132990 erythema nodosum, familial semapv:UnspecifiedMatching MONDO:0007569 erythema nodosum, familial skos:exactMatch UMLS:C1851503 semapv:UnspecifiedMatching MONDO:0007569 erythema nodosum, familial skos:exactMatch mesh:C535510 semapv:UnspecifiedMatching MONDO:0007570 erythema palmare hereditarium skos:exactMatch MEDGEN:343587 semapv:UnspecifiedMatching MONDO:0007570 erythema palmare hereditarium skos:exactMatch OMIM:133000 erythema palmare hereditarium semapv:UnspecifiedMatching MONDO:0007570 erythema palmare hereditarium skos:exactMatch Orphanet:231031 Erythema palmare hereditarium semapv:UnspecifiedMatching MONDO:0007570 erythema palmare hereditarium skos:exactMatch SCTID:763767006 semapv:UnspecifiedMatching MONDO:0007570 erythema palmare hereditarium skos:exactMatch UMLS:C1851502 semapv:UnspecifiedMatching MONDO:0007570 erythema palmare hereditarium skos:exactMatch mesh:C565041 semapv:UnspecifiedMatching MONDO:0007571 primary erythermalgia skos:exactMatch MEDGEN:8688 semapv:UnspecifiedMatching MONDO:0007571 primary erythermalgia skos:exactMatch NCIT:C125383 Primary Erythromelalgia semapv:UnspecifiedMatching MONDO:0007571 primary erythermalgia skos:exactMatch OMIM:133020 erythermalgia, primary semapv:UnspecifiedMatching MONDO:0007571 primary erythermalgia skos:exactMatch Orphanet:90026 Primary erythromelalgia semapv:UnspecifiedMatching MONDO:0007571 primary erythermalgia skos:exactMatch UMLS:C0014805 semapv:UnspecifiedMatching MONDO:0007571 primary erythermalgia skos:exactMatch icd11.foundation:327001486 Primary erythromelalgia semapv:UnspecifiedMatching MONDO:0007572 primary familial polycythemia due to EPO receptor mutation skos:exactMatch DOID:0060652 familial erythrocytosis 1 semapv:UnspecifiedMatching MONDO:0007572 primary familial polycythemia due to EPO receptor mutation skos:exactMatch MEDGEN:1641215 semapv:UnspecifiedMatching MONDO:0007572 primary familial polycythemia due to EPO receptor mutation skos:exactMatch OMIM:133100 erythrocytosis, familial, 1 semapv:UnspecifiedMatching MONDO:0007572 primary familial polycythemia due to EPO receptor mutation skos:exactMatch Orphanet:90042 Primary familial polycythemia semapv:UnspecifiedMatching MONDO:0007572 primary familial polycythemia due to EPO receptor mutation skos:exactMatch SCTID:17342003 semapv:UnspecifiedMatching MONDO:0007572 primary familial polycythemia due to EPO receptor mutation skos:exactMatch UMLS:C4551637 semapv:UnspecifiedMatching MONDO:0007572 primary familial polycythemia due to EPO receptor mutation skos:exactMatch icd11.foundation:962836252 Primary inherited erythrocytosis semapv:UnspecifiedMatching MONDO:0007573 erythroleukemia, familial, susceptibility to skos:exactMatch MEDGEN:1790819 semapv:UnspecifiedMatching MONDO:0007573 erythroleukemia, familial, susceptibility to skos:exactMatch OMIM:133180 erythroleukemia, familial, susceptibility to semapv:UnspecifiedMatching MONDO:0007573 erythroleukemia, familial, susceptibility to skos:exactMatch UMLS:C5552985 semapv:UnspecifiedMatching MONDO:0007573 erythroleukemia, familial, susceptibility to skos:exactMatch mesh:C565039 semapv:UnspecifiedMatching MONDO:0007574 spinocerebellar ataxia type 34 skos:exactMatch DOID:0050981 spinocerebellar ataxia 34 semapv:UnspecifiedMatching MONDO:0007574 spinocerebellar ataxia type 34 skos:exactMatch MEDGEN:338703 semapv:UnspecifiedMatching MONDO:0007574 spinocerebellar ataxia type 34 skos:exactMatch OMIM:133190 spinocerebellar ataxia 34 semapv:UnspecifiedMatching MONDO:0007574 spinocerebellar ataxia type 34 skos:exactMatch Orphanet:1955 Spinocerebellar ataxia type 34 semapv:UnspecifiedMatching MONDO:0007574 spinocerebellar ataxia type 34 skos:exactMatch SCTID:719255000 semapv:UnspecifiedMatching MONDO:0007574 spinocerebellar ataxia type 34 skos:exactMatch UMLS:C1851481 semapv:UnspecifiedMatching MONDO:0007574 spinocerebellar ataxia type 34 skos:exactMatch mesh:C535738 semapv:UnspecifiedMatching MONDO:0007576 esophageal cancer skos:exactMatch DOID:5041 esophageal cancer semapv:UnspecifiedMatching MONDO:0007576 esophageal cancer skos:exactMatch ICD10CM:C15 Malignant neoplasm of esophagus semapv:UnspecifiedMatching MONDO:0007576 esophageal cancer skos:exactMatch MEDGEN:107792 semapv:UnspecifiedMatching MONDO:0007576 esophageal cancer skos:exactMatch NCIT:C7478 Malignant Esophageal Neoplasm semapv:UnspecifiedMatching MONDO:0007576 esophageal cancer skos:exactMatch OMIM:133239 esophageal cancer semapv:UnspecifiedMatching MONDO:0007576 esophageal cancer skos:exactMatch SCTID:363402007 semapv:UnspecifiedMatching MONDO:0007576 esophageal cancer skos:exactMatch UMLS:C0546837 semapv:UnspecifiedMatching MONDO:0007576 esophageal cancer skos:exactMatch icd11.foundation:669033105 Malignant neoplasms of oesophagus semapv:UnspecifiedMatching MONDO:0007577 esophageal ring, lower skos:exactMatch MEDGEN:83320 semapv:UnspecifiedMatching MONDO:0007577 esophageal ring, lower skos:exactMatch OMIM:133240 esophageal ring, lower semapv:UnspecifiedMatching MONDO:0007577 esophageal ring, lower skos:exactMatch SCTID:235623002 semapv:UnspecifiedMatching MONDO:0007577 esophageal ring, lower skos:exactMatch UMLS:C0341137 semapv:UnspecifiedMatching MONDO:0007577 esophageal ring, lower skos:exactMatch mesh:C562765 semapv:UnspecifiedMatching MONDO:0007578 obsolete esterase B skos:exactMatch OMIM:133260 esterase B semapv:UnspecifiedMatching MONDO:0007578 obsolete esterase B skos:exactMatch mesh:C049262 semapv:UnspecifiedMatching MONDO:0007579 obsolete esterase C skos:exactMatch OMIM:133270 esterase c semapv:UnspecifiedMatching MONDO:0007580 obsolete esterase ES-2, regulator for skos:exactMatch OMIM:133300 esterase es-2, regulator for semapv:UnspecifiedMatching MONDO:0007581 exchondrosis of pinna, posterior skos:exactMatch MEDGEN:377032 semapv:UnspecifiedMatching MONDO:0007581 exchondrosis of pinna, posterior skos:exactMatch OMIM:133500 exchondrosis of pinna, posterior semapv:UnspecifiedMatching MONDO:0007581 exchondrosis of pinna, posterior skos:exactMatch UMLS:C1851463 semapv:UnspecifiedMatching MONDO:0007581 exchondrosis of pinna, posterior skos:exactMatch mesh:C565036 semapv:UnspecifiedMatching MONDO:0007583 obsolete exostoses of heel skos:exactMatch OMIM:133600 exostoses of heel semapv:UnspecifiedMatching MONDO:0007583 obsolete exostoses of heel skos:exactMatch mesh:C563167 semapv:UnspecifiedMatching MONDO:0007584 exostoses-anetodermia-brachydactyly type E syndrome skos:exactMatch MEDGEN:338695 semapv:UnspecifiedMatching MONDO:0007584 exostoses-anetodermia-brachydactyly type E syndrome skos:exactMatch OMIM:133690 exostoses with anetodermia and brachydactyly, type e semapv:UnspecifiedMatching MONDO:0007584 exostoses-anetodermia-brachydactyly type E syndrome skos:exactMatch Orphanet:1962 Exostoses-anetodermia-brachydactyly type E syndrome semapv:UnspecifiedMatching MONDO:0007584 exostoses-anetodermia-brachydactyly type E syndrome skos:exactMatch UMLS:C1851428 semapv:UnspecifiedMatching MONDO:0007584 exostoses-anetodermia-brachydactyly type E syndrome skos:exactMatch mesh:C565034 semapv:UnspecifiedMatching MONDO:0007585 exostoses, multiple, type 1 skos:exactMatch OMIM:133700 exostoses, multiple, type 1 semapv:UnspecifiedMatching MONDO:0007586 exostoses, multiple, type 2 skos:exactMatch MEDGEN:377018 semapv:UnspecifiedMatching MONDO:0007586 exostoses, multiple, type 2 skos:exactMatch NCIT:C18252 EXT2 Gene semapv:UnspecifiedMatching MONDO:0007586 exostoses, multiple, type 2 skos:exactMatch OMIM:133701 exostoses, multiple, type 2 semapv:UnspecifiedMatching MONDO:0007586 exostoses, multiple, type 2 skos:exactMatch UMLS:C1851413 semapv:UnspecifiedMatching MONDO:0007587 external auditory canal atresia-vertical talus-hypertelorism syndrome skos:exactMatch MEDGEN:361813 semapv:UnspecifiedMatching MONDO:0007587 external auditory canal atresia-vertical talus-hypertelorism syndrome skos:exactMatch OMIM:133705 external auditory canal, bilateral atresia of, with congenital vertical talus semapv:UnspecifiedMatching MONDO:0007587 external auditory canal atresia-vertical talus-hypertelorism syndrome skos:exactMatch Orphanet:3023 External auditory canal atresia-vertical talus-hypertelorism syndrome semapv:UnspecifiedMatching MONDO:0007587 external auditory canal atresia-vertical talus-hypertelorism syndrome skos:exactMatch UMLS:C1876181 semapv:UnspecifiedMatching MONDO:0007588 extrasystoles-short stature-hyperpigmentation-microcephaly syndrome skos:exactMatch MEDGEN:343564 semapv:UnspecifiedMatching MONDO:0007588 extrasystoles-short stature-hyperpigmentation-microcephaly syndrome skos:exactMatch OMIM:133750 extrasystoles, multiform ventricular, with short stature, hyperpigmentation and microcephaly semapv:UnspecifiedMatching MONDO:0007588 extrasystoles-short stature-hyperpigmentation-microcephaly syndrome skos:exactMatch Orphanet:1964 Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome semapv:UnspecifiedMatching MONDO:0007588 extrasystoles-short stature-hyperpigmentation-microcephaly syndrome skos:exactMatch UMLS:C1851412 semapv:UnspecifiedMatching MONDO:0007588 extrasystoles-short stature-hyperpigmentation-microcephaly syndrome skos:exactMatch mesh:C565032 semapv:UnspecifiedMatching MONDO:0007589 exudative vitreoretinopathy 1 skos:exactMatch DOID:0111412 exudative vitreoretinopathy 1 semapv:UnspecifiedMatching MONDO:0007589 exudative vitreoretinopathy 1 skos:exactMatch MEDGEN:343561 semapv:UnspecifiedMatching MONDO:0007589 exudative vitreoretinopathy 1 skos:exactMatch NCIT:C175048 Exudative Vitreoretinopathy 1 semapv:UnspecifiedMatching MONDO:0007589 exudative vitreoretinopathy 1 skos:exactMatch OMIM:133780 exudative vitreoretinopathy 1 semapv:UnspecifiedMatching MONDO:0007589 exudative vitreoretinopathy 1 skos:exactMatch UMLS:C1851402 semapv:UnspecifiedMatching MONDO:0007589 exudative vitreoretinopathy 1 skos:exactMatch mesh:C536382 semapv:UnspecifiedMatching MONDO:0007590 hemifacial hypertrophy skos:exactMatch MEDGEN:452987 semapv:UnspecifiedMatching MONDO:0007590 hemifacial hypertrophy skos:exactMatch OMIM:133900 hemifacial hyperplasia semapv:UnspecifiedMatching MONDO:0007590 hemifacial hypertrophy skos:exactMatch Orphanet:141145 Hemifacial hyperplasia semapv:UnspecifiedMatching MONDO:0007590 hemifacial hypertrophy skos:exactMatch UMLS:C1399354 semapv:UnspecifiedMatching MONDO:0007590 hemifacial hypertrophy skos:exactMatch icd11.foundation:2090544963 Hemifacial hypertrophy semapv:UnspecifiedMatching MONDO:0007591 obsolete facial hypertrichosis skos:exactMatch OMIM:134000 facial hypertrichosis semapv:UnspecifiedMatching MONDO:0007591 obsolete facial hypertrichosis skos:exactMatch mesh:C565029 semapv:UnspecifiedMatching MONDO:0007592 familial recurrent peripheral facial palsy skos:exactMatch MEDGEN:342742 semapv:UnspecifiedMatching MONDO:0007592 familial recurrent peripheral facial palsy skos:exactMatch OMIM:134200 facial palsy, familial recurrent peripheral semapv:UnspecifiedMatching MONDO:0007592 familial recurrent peripheral facial palsy skos:exactMatch Orphanet:2809 Familial recurrent peripheral facial palsy semapv:UnspecifiedMatching MONDO:0007592 familial recurrent peripheral facial palsy skos:exactMatch UMLS:C1851399 semapv:UnspecifiedMatching MONDO:0007592 familial recurrent peripheral facial palsy skos:exactMatch mesh:C565028 semapv:UnspecifiedMatching MONDO:0007593 facial spasm skos:exactMatch MEDGEN:124458 semapv:UnspecifiedMatching MONDO:0007593 facial spasm skos:exactMatch OMIM:134300 facial spasm semapv:UnspecifiedMatching MONDO:0007593 facial spasm skos:exactMatch UMLS:C0278151 semapv:UnspecifiedMatching MONDO:0007594 factor 5 excess with spontaneous thrombosis skos:exactMatch MEDGEN:341996 semapv:UnspecifiedMatching MONDO:0007594 factor 5 excess with spontaneous thrombosis skos:exactMatch OMIM:134400 factor 5 excess with spontaneous thrombosis semapv:UnspecifiedMatching MONDO:0007594 factor 5 excess with spontaneous thrombosis skos:exactMatch UMLS:C1851378 semapv:UnspecifiedMatching MONDO:0007594 factor 5 excess with spontaneous thrombosis skos:exactMatch mesh:C565026 semapv:UnspecifiedMatching MONDO:0007595 factor VII and Factor VIII, combined deficiency of skos:exactMatch MEDGEN:341995 semapv:UnspecifiedMatching MONDO:0007595 factor VII and Factor VIII, combined deficiency of skos:exactMatch OMIM:134430 factor 7 and factor viii, combined deficiency of semapv:UnspecifiedMatching MONDO:0007595 factor VII and Factor VIII, combined deficiency of skos:exactMatch UMLS:C1851377 semapv:UnspecifiedMatching MONDO:0007595 factor VII and Factor VIII, combined deficiency of skos:exactMatch mesh:C565025 semapv:UnspecifiedMatching MONDO:0007597 factor VIII and Factor IX, combined deficiency of skos:exactMatch MEDGEN:341994 semapv:UnspecifiedMatching MONDO:0007597 factor VIII and Factor IX, combined deficiency of skos:exactMatch OMIM:134510 factor 8 and factor ix, combined deficiency of semapv:UnspecifiedMatching MONDO:0007597 factor VIII and Factor IX, combined deficiency of skos:exactMatch UMLS:C1851376 semapv:UnspecifiedMatching MONDO:0007597 factor VIII and Factor IX, combined deficiency of skos:exactMatch mesh:C565024 semapv:UnspecifiedMatching MONDO:0007598 factors VIII, IX and XI, combined deficiency of skos:exactMatch MEDGEN:341993 semapv:UnspecifiedMatching MONDO:0007598 factors VIII, IX and XI, combined deficiency of skos:exactMatch OMIM:134520 factors viii, 9 and xi, combined deficiency of semapv:UnspecifiedMatching MONDO:0007598 factors VIII, IX and XI, combined deficiency of skos:exactMatch UMLS:C1851375 semapv:UnspecifiedMatching MONDO:0007598 factors VIII, IX and XI, combined deficiency of skos:exactMatch mesh:C565023 semapv:UnspecifiedMatching MONDO:0007599 factor 9 and Factor XI, combined deficiency of skos:exactMatch MEDGEN:377012 semapv:UnspecifiedMatching MONDO:0007599 factor 9 and Factor XI, combined deficiency of skos:exactMatch OMIM:134540 factor 9 and factor xi, combined deficiency of semapv:UnspecifiedMatching MONDO:0007599 factor 9 and Factor XI, combined deficiency of skos:exactMatch UMLS:C1851374 semapv:UnspecifiedMatching MONDO:0007599 factor 9 and Factor XI, combined deficiency of skos:exactMatch mesh:C565022 semapv:UnspecifiedMatching MONDO:0007600 primary Fanconi syndrome skos:exactMatch MEDGEN:341765 semapv:UnspecifiedMatching MONDO:0007600 primary Fanconi syndrome skos:exactMatch NCIT:C123229 Primary Fanconi Syndrome semapv:UnspecifiedMatching MONDO:0007600 primary Fanconi syndrome skos:exactMatch Orphanet:3337 Primary Fanconi renotubular syndrome semapv:UnspecifiedMatching MONDO:0007600 primary Fanconi syndrome skos:exactMatch UMLS:C1857395 semapv:UnspecifiedMatching MONDO:0007601 familial Mediterranean fever, autosomal dominant skos:exactMatch MEDGEN:341987 semapv:UnspecifiedMatching MONDO:0007601 familial Mediterranean fever, autosomal dominant skos:exactMatch OMIM:134610 familial mediterranean fever, autosomal dominant semapv:UnspecifiedMatching MONDO:0007601 familial Mediterranean fever, autosomal dominant skos:exactMatch UMLS:C1851347 semapv:UnspecifiedMatching MONDO:0007601 familial Mediterranean fever, autosomal dominant skos:exactMatch mesh:C565021 semapv:UnspecifiedMatching MONDO:0007602 obsolete favism, susceptibility to skos:exactMatch OMIM:134700 semapv:UnspecifiedMatching MONDO:0007603 Felty syndrome skos:exactMatch DOID:11042 Felty's syndrome semapv:UnspecifiedMatching MONDO:0007603 Felty syndrome skos:exactMatch EFO:0007269 semapv:UnspecifiedMatching MONDO:0007603 Felty syndrome skos:exactMatch ICD10CM:M05.0 Felty's syndrome semapv:UnspecifiedMatching MONDO:0007603 Felty syndrome skos:exactMatch MEDGEN:4674 semapv:UnspecifiedMatching MONDO:0007603 Felty syndrome skos:exactMatch NCIT:C84712 Felty Syndrome semapv:UnspecifiedMatching MONDO:0007603 Felty syndrome skos:exactMatch OMIM:134750 felty syndrome semapv:UnspecifiedMatching MONDO:0007603 Felty syndrome skos:exactMatch Orphanet:47612 Felty syndrome semapv:UnspecifiedMatching MONDO:0007603 Felty syndrome skos:exactMatch SCTID:57160007 semapv:UnspecifiedMatching MONDO:0007603 Felty syndrome skos:exactMatch UMLS:C0015773 semapv:UnspecifiedMatching MONDO:0007603 Felty syndrome skos:exactMatch mesh:D005258 semapv:UnspecifiedMatching MONDO:0007604 femoral-facial syndrome skos:exactMatch MEDGEN:120523 semapv:UnspecifiedMatching MONDO:0007604 femoral-facial syndrome skos:exactMatch OMIM:134780 femoral-facial syndrome semapv:UnspecifiedMatching MONDO:0007604 femoral-facial syndrome skos:exactMatch Orphanet:1988 Femoral-facial syndrome semapv:UnspecifiedMatching MONDO:0007604 femoral-facial syndrome skos:exactMatch SCTID:13280000 semapv:UnspecifiedMatching MONDO:0007604 femoral-facial syndrome skos:exactMatch UMLS:C0265263 semapv:UnspecifiedMatching MONDO:0007604 femoral-facial syndrome skos:exactMatch icd11.foundation:505576809 Femoral-facial syndrome semapv:UnspecifiedMatching MONDO:0007604 femoral-facial syndrome skos:exactMatch mesh:C537916 semapv:UnspecifiedMatching MONDO:0007605 fibrinolytic defect skos:exactMatch MEDGEN:338221 semapv:UnspecifiedMatching MONDO:0007605 fibrinolytic defect skos:exactMatch OMIM:134900 fibrinolytic defect semapv:UnspecifiedMatching MONDO:0007605 fibrinolytic defect skos:exactMatch UMLS:C1851184 semapv:UnspecifiedMatching MONDO:0007605 fibrinolytic defect skos:exactMatch mesh:C565017 semapv:UnspecifiedMatching MONDO:0007606 fibrodysplasia ossificans progressiva skos:exactMatch DOID:13374 fibrodysplasia ossificans progressiva semapv:UnspecifiedMatching MONDO:0007606 fibrodysplasia ossificans progressiva skos:exactMatch ICD10CM:M61.1 Myositis ossificans progressiva semapv:UnspecifiedMatching MONDO:0007606 fibrodysplasia ossificans progressiva skos:exactMatch MEDGEN:4698 semapv:UnspecifiedMatching MONDO:0007606 fibrodysplasia ossificans progressiva skos:exactMatch NCIT:C3040 Fibrodysplasia Ossificans Progressiva semapv:UnspecifiedMatching MONDO:0007606 fibrodysplasia ossificans progressiva skos:exactMatch OMIM:135100 fibrodysplasia ossificans progressiva semapv:UnspecifiedMatching MONDO:0007606 fibrodysplasia ossificans progressiva skos:exactMatch Orphanet:337 Fibrodysplasia ossificans progressiva semapv:UnspecifiedMatching MONDO:0007606 fibrodysplasia ossificans progressiva skos:exactMatch SCTID:82725007 semapv:UnspecifiedMatching MONDO:0007606 fibrodysplasia ossificans progressiva skos:exactMatch UMLS:C0016037 semapv:UnspecifiedMatching MONDO:0007606 fibrodysplasia ossificans progressiva skos:exactMatch icd11.foundation:2102976705 Fibrodysplasia ossificans progressiva semapv:UnspecifiedMatching MONDO:0007608 desmoid tumor skos:exactMatch DOID:0080366 desmoid tumor semapv:UnspecifiedMatching MONDO:0007608 desmoid tumor skos:exactMatch EFO:0009907 semapv:UnspecifiedMatching MONDO:0007608 desmoid tumor skos:exactMatch MEDGEN:38187 semapv:UnspecifiedMatching MONDO:0007608 desmoid tumor skos:exactMatch NCIT:C9182 Desmoid Fibromatosis semapv:UnspecifiedMatching MONDO:0007608 desmoid tumor skos:exactMatch OMIM:135290 desmoid disease, hereditary semapv:UnspecifiedMatching MONDO:0007608 desmoid tumor skos:exactMatch Orphanet:873 Desmoid tumor semapv:UnspecifiedMatching MONDO:0007608 desmoid tumor skos:exactMatch UMLS:C0079218 semapv:UnspecifiedMatching MONDO:0007608 desmoid tumor skos:exactMatch mesh:D018222 semapv:UnspecifiedMatching MONDO:0007609 fibromatosis, gingival, 1 skos:exactMatch MEDGEN:1647111 semapv:UnspecifiedMatching MONDO:0007609 fibromatosis, gingival, 1 skos:exactMatch OMIM:135300 fibromatosis, gingival, 1 semapv:UnspecifiedMatching MONDO:0007609 fibromatosis, gingival, 1 skos:exactMatch UMLS:C4551558 semapv:UnspecifiedMatching MONDO:0007610 gingival fibromatosis-hypertrichosis syndrome skos:exactMatch MEDGEN:342675 semapv:UnspecifiedMatching MONDO:0007610 gingival fibromatosis-hypertrichosis syndrome skos:exactMatch OMIM:135400 hypertrichosis, congenital generalized, 3, with or without gingival hyperplasia semapv:UnspecifiedMatching MONDO:0007610 gingival fibromatosis-hypertrichosis syndrome skos:exactMatch Orphanet:2026 Gingival fibromatosis-hypertrichosis syndrome semapv:UnspecifiedMatching MONDO:0007610 gingival fibromatosis-hypertrichosis syndrome skos:exactMatch SCTID:716008002 semapv:UnspecifiedMatching MONDO:0007610 gingival fibromatosis-hypertrichosis syndrome skos:exactMatch UMLS:C1851120 semapv:UnspecifiedMatching MONDO:0007610 gingival fibromatosis-hypertrichosis syndrome skos:exactMatch mesh:C565016 semapv:UnspecifiedMatching MONDO:0007612 gingival fibromatosis-progressive deafness syndrome skos:exactMatch MEDGEN:341928 semapv:UnspecifiedMatching MONDO:0007612 gingival fibromatosis-progressive deafness syndrome skos:exactMatch OMIM:135550 fibromatosis, gingival, with progressive deafness semapv:UnspecifiedMatching MONDO:0007612 gingival fibromatosis-progressive deafness syndrome skos:exactMatch Orphanet:2027 Gingival fibromatosis-progressive deafness syndrome semapv:UnspecifiedMatching MONDO:0007612 gingival fibromatosis-progressive deafness syndrome skos:exactMatch SCTID:722449007 semapv:UnspecifiedMatching MONDO:0007612 gingival fibromatosis-progressive deafness syndrome skos:exactMatch UMLS:C1851112 semapv:UnspecifiedMatching MONDO:0007612 gingival fibromatosis-progressive deafness syndrome skos:exactMatch mesh:C535886 semapv:UnspecifiedMatching MONDO:0007614 congenital fibrosis of extraocular muscles skos:exactMatch DOID:0080143 congenital fibrosis of the extraocular muscles semapv:UnspecifiedMatching MONDO:0007614 congenital fibrosis of extraocular muscles skos:exactMatch MEDGEN:724506 semapv:UnspecifiedMatching MONDO:0007614 congenital fibrosis of extraocular muscles skos:exactMatch OMIMPS:135700 Fibrosis of extraocular muscles, congenital semapv:UnspecifiedMatching MONDO:0007614 congenital fibrosis of extraocular muscles skos:exactMatch Orphanet:45358 Congenital fibrosis of extraocular muscles semapv:UnspecifiedMatching MONDO:0007614 congenital fibrosis of extraocular muscles skos:exactMatch SCTID:400946004 semapv:UnspecifiedMatching MONDO:0007614 congenital fibrosis of extraocular muscles skos:exactMatch UMLS:C1302995 semapv:UnspecifiedMatching MONDO:0007614 congenital fibrosis of extraocular muscles skos:exactMatch icd11.foundation:887449084 Congenital fibrosis of extraocular muscles semapv:UnspecifiedMatching MONDO:0007614 congenital fibrosis of extraocular muscles skos:exactMatch mesh:C580012 semapv:UnspecifiedMatching MONDO:0007615 laurin-Sandrow syndrome skos:exactMatch DOID:0111350 Laurin-Sandrow syndrome semapv:UnspecifiedMatching MONDO:0007615 laurin-Sandrow syndrome skos:exactMatch MEDGEN:340697 semapv:UnspecifiedMatching MONDO:0007615 laurin-Sandrow syndrome skos:exactMatch OMIM:135750 laurin-sandrow syndrome semapv:UnspecifiedMatching MONDO:0007615 laurin-Sandrow syndrome skos:exactMatch Orphanet:2378 Laurin-Sandrow syndrome semapv:UnspecifiedMatching MONDO:0007615 laurin-Sandrow syndrome skos:exactMatch SCTID:715440003 semapv:UnspecifiedMatching MONDO:0007615 laurin-Sandrow syndrome skos:exactMatch UMLS:C1851100 semapv:UnspecifiedMatching MONDO:0007615 laurin-Sandrow syndrome skos:exactMatch icd11.foundation:671594481 Laurin-Sandrow syndrome semapv:UnspecifiedMatching MONDO:0007615 laurin-Sandrow syndrome skos:exactMatch mesh:C535689 semapv:UnspecifiedMatching MONDO:0007616 fibula, recurrent dislocation of head of skos:exactMatch MEDGEN:338206 semapv:UnspecifiedMatching MONDO:0007616 fibula, recurrent dislocation of head of skos:exactMatch OMIM:135800 fibula, recurrent dislocation of head of semapv:UnspecifiedMatching MONDO:0007616 fibula, recurrent dislocation of head of skos:exactMatch UMLS:C1851099 semapv:UnspecifiedMatching MONDO:0007616 fibula, recurrent dislocation of head of skos:exactMatch mesh:C565011 semapv:UnspecifiedMatching MONDO:0007617 Coffin-Siris syndrome 1 skos:exactMatch DOID:0070042 Coffin-Siris syndrome 1 semapv:UnspecifiedMatching MONDO:0007617 Coffin-Siris syndrome 1 skos:exactMatch MEDGEN:482831 semapv:UnspecifiedMatching MONDO:0007617 Coffin-Siris syndrome 1 skos:exactMatch OMIM:135900 coffin-siris syndrome 1 semapv:UnspecifiedMatching MONDO:0007617 Coffin-Siris syndrome 1 skos:exactMatch UMLS:C3281201 semapv:UnspecifiedMatching MONDO:0007617 Coffin-Siris syndrome 1 skos:exactMatch mesh:C538391 semapv:UnspecifiedMatching MONDO:0007618 Eng-Strom syndrome skos:exactMatch MEDGEN:338204 semapv:UnspecifiedMatching MONDO:0007618 Eng-Strom syndrome skos:exactMatch OMIM:135950 finger locking, recurrent, with intrauterine growth retardation and proportionate short stature semapv:UnspecifiedMatching MONDO:0007618 Eng-Strom syndrome skos:exactMatch Orphanet:1937 Eng-Strom syndrome semapv:UnspecifiedMatching MONDO:0007618 Eng-Strom syndrome skos:exactMatch UMLS:C1851081 semapv:UnspecifiedMatching MONDO:0007619 isolated congenital adermatoglyphia skos:exactMatch DOID:0111357 adermatoglyphia semapv:UnspecifiedMatching MONDO:0007619 isolated congenital adermatoglyphia skos:exactMatch MEDGEN:338875 semapv:UnspecifiedMatching MONDO:0007619 isolated congenital adermatoglyphia skos:exactMatch OMIM:136000 adermatoglyphia semapv:UnspecifiedMatching MONDO:0007619 isolated congenital adermatoglyphia skos:exactMatch Orphanet:289465 Isolated congenital adermatoglyphia semapv:UnspecifiedMatching MONDO:0007619 isolated congenital adermatoglyphia skos:exactMatch SCTID:763748007 semapv:UnspecifiedMatching MONDO:0007619 isolated congenital adermatoglyphia skos:exactMatch UMLS:C1852150 semapv:UnspecifiedMatching MONDO:0007619 isolated congenital adermatoglyphia skos:exactMatch mesh:C565010 semapv:UnspecifiedMatching MONDO:0007620 fish eye disease skos:exactMatch MEDGEN:83354 semapv:UnspecifiedMatching MONDO:0007620 fish eye disease skos:exactMatch OMIM:136120 fish-eye disease semapv:UnspecifiedMatching MONDO:0007620 fish eye disease skos:exactMatch Orphanet:79292 Fish-eye disease semapv:UnspecifiedMatching MONDO:0007620 fish eye disease skos:exactMatch SCTID:238092004 semapv:UnspecifiedMatching MONDO:0007620 fish eye disease skos:exactMatch UMLS:C0342895 semapv:UnspecifiedMatching MONDO:0007621 Floating-Harbor syndrome skos:exactMatch DOID:0111358 Floating-Harbor syndrome semapv:UnspecifiedMatching MONDO:0007621 Floating-Harbor syndrome skos:exactMatch MEDGEN:152667 semapv:UnspecifiedMatching MONDO:0007621 Floating-Harbor syndrome skos:exactMatch NCIT:C175241 Floating-Harbor Syndrome semapv:UnspecifiedMatching MONDO:0007621 Floating-Harbor syndrome skos:exactMatch OMIM:136140 floating-harbor syndrome semapv:UnspecifiedMatching MONDO:0007621 Floating-Harbor syndrome skos:exactMatch Orphanet:2044 Floating-Harbor syndrome semapv:UnspecifiedMatching MONDO:0007621 Floating-Harbor syndrome skos:exactMatch SCTID:312214005 semapv:UnspecifiedMatching MONDO:0007621 Floating-Harbor syndrome skos:exactMatch UMLS:C0729582 semapv:UnspecifiedMatching MONDO:0007621 Floating-Harbor syndrome skos:exactMatch icd11.foundation:2101730645 Floating-Harbor syndrome semapv:UnspecifiedMatching MONDO:0007621 Floating-Harbor syndrome skos:exactMatch mesh:C537062 semapv:UnspecifiedMatching MONDO:0007622 obsolete flood factor deficiency skos:exactMatch OMIM:136150 flood factor deficiency semapv:UnspecifiedMatching MONDO:0007622 obsolete flood factor deficiency skos:exactMatch mesh:C565009 semapv:UnspecifiedMatching MONDO:0007623 flushing of ears and somnolence skos:exactMatch MEDGEN:340685 semapv:UnspecifiedMatching MONDO:0007623 flushing of ears and somnolence skos:exactMatch OMIM:136200 flushing of ears and somnolence semapv:UnspecifiedMatching MONDO:0007623 flushing of ears and somnolence skos:exactMatch UMLS:C1851055 semapv:UnspecifiedMatching MONDO:0007624 Flynn-Aird syndrome skos:exactMatch MEDGEN:91009 semapv:UnspecifiedMatching MONDO:0007624 Flynn-Aird syndrome skos:exactMatch OMIM:136300 flynn-aird syndrome semapv:UnspecifiedMatching MONDO:0007624 Flynn-Aird syndrome skos:exactMatch Orphanet:2047 Flynn-Aird syndrome semapv:UnspecifiedMatching MONDO:0007624 Flynn-Aird syndrome skos:exactMatch SCTID:239056006 semapv:UnspecifiedMatching MONDO:0007624 Flynn-Aird syndrome skos:exactMatch UMLS:C0343108 semapv:UnspecifiedMatching MONDO:0007624 Flynn-Aird syndrome skos:exactMatch mesh:C537066 semapv:UnspecifiedMatching MONDO:0007625 focal epithelial hyperplasia of the oral mucosa skos:exactMatch MEDGEN:340674 semapv:UnspecifiedMatching MONDO:0007625 focal epithelial hyperplasia of the oral mucosa skos:exactMatch OMIM:136400 focal epithelial hyperplasia of the oral mucosa semapv:UnspecifiedMatching MONDO:0007625 focal epithelial hyperplasia of the oral mucosa skos:exactMatch UMLS:C1851009 semapv:UnspecifiedMatching MONDO:0007625 focal epithelial hyperplasia of the oral mucosa skos:exactMatch mesh:C565008 semapv:UnspecifiedMatching MONDO:0007626 familial congenital palsy of trochlear nerve skos:exactMatch MEDGEN:338185 semapv:UnspecifiedMatching MONDO:0007626 familial congenital palsy of trochlear nerve skos:exactMatch OMIM:136480 fourth cranial nerve palsy, familial congenital semapv:UnspecifiedMatching MONDO:0007626 familial congenital palsy of trochlear nerve skos:exactMatch Orphanet:91498 Familial congenital palsy of trochlear nerve semapv:UnspecifiedMatching MONDO:0007626 familial congenital palsy of trochlear nerve skos:exactMatch UMLS:C1850996 semapv:UnspecifiedMatching MONDO:0007626 familial congenital palsy of trochlear nerve skos:exactMatch mesh:C565007 semapv:UnspecifiedMatching MONDO:0007627 focal facial dermal dysplasia type I skos:exactMatch MEDGEN:1718224 semapv:UnspecifiedMatching MONDO:0007627 focal facial dermal dysplasia type I skos:exactMatch OMIM:136500 focal facial dermal dysplasia 1, brauer type semapv:UnspecifiedMatching MONDO:0007627 focal facial dermal dysplasia type I skos:exactMatch Orphanet:79133 Focal facial dermal dysplasia type I semapv:UnspecifiedMatching MONDO:0007627 focal facial dermal dysplasia type I skos:exactMatch UMLS:C5235196 semapv:UnspecifiedMatching MONDO:0007628 foveal hypoplasia 1 skos:exactMatch DOID:0070530 foveal hypoplasia 1 semapv:UnspecifiedMatching MONDO:0007628 foveal hypoplasia 1 skos:exactMatch MEDGEN:811934 semapv:UnspecifiedMatching MONDO:0007628 foveal hypoplasia 1 skos:exactMatch OMIM:136520 foveal hypoplasia 1 semapv:UnspecifiedMatching MONDO:0007628 foveal hypoplasia 1 skos:exactMatch UMLS:C3805604 semapv:UnspecifiedMatching MONDO:0007629 fragile site 10Q23 skos:exactMatch MEDGEN:338183 semapv:UnspecifiedMatching MONDO:0007629 fragile site 10Q23 skos:exactMatch OMIM:136540 fragile site 10q23 semapv:UnspecifiedMatching MONDO:0007629 fragile site 10Q23 skos:exactMatch UMLS:C1850987 semapv:UnspecifiedMatching MONDO:0007630 North Carolina macular dystrophy skos:exactMatch DOID:0070439 North Carolina macular dystrophy semapv:UnspecifiedMatching MONDO:0007630 North Carolina macular dystrophy skos:exactMatch MEDGEN:147590 semapv:UnspecifiedMatching MONDO:0007630 North Carolina macular dystrophy skos:exactMatch OMIM:136550 macular dystrophy, retinal, 1, north carolina type semapv:UnspecifiedMatching MONDO:0007630 North Carolina macular dystrophy skos:exactMatch Orphanet:75327 North Carolina macular dystrophy semapv:UnspecifiedMatching MONDO:0007630 North Carolina macular dystrophy skos:exactMatch SCTID:312925009 semapv:UnspecifiedMatching MONDO:0007630 North Carolina macular dystrophy skos:exactMatch UMLS:C0730294 semapv:UnspecifiedMatching MONDO:0007630 North Carolina macular dystrophy skos:exactMatch icd11.foundation:1931008217 North Carolina macular dystrophy semapv:UnspecifiedMatching MONDO:0007630 North Carolina macular dystrophy skos:exactMatch mesh:C537835 semapv:UnspecifiedMatching MONDO:0007631 chromosome 16p12.1 deletion syndrome, 520kb skos:exactMatch DOID:0060399 chromosome 16p12.1 deletion syndrome semapv:UnspecifiedMatching MONDO:0007631 chromosome 16p12.1 deletion syndrome, 520kb skos:exactMatch MEDGEN:460626 semapv:UnspecifiedMatching MONDO:0007631 chromosome 16p12.1 deletion syndrome, 520kb skos:exactMatch NCIT:C129875 Chromosome 16p12.1 Deletion Syndrome semapv:UnspecifiedMatching MONDO:0007631 chromosome 16p12.1 deletion syndrome, 520kb skos:exactMatch OMIM:136570 chromosome 16p12.1 deletion syndrome, 520-kb semapv:UnspecifiedMatching MONDO:0007631 chromosome 16p12.1 deletion syndrome, 520kb skos:exactMatch UMLS:C3149276 semapv:UnspecifiedMatching MONDO:0007631 chromosome 16p12.1 deletion syndrome, 520kb skos:exactMatch mesh:C565001 semapv:UnspecifiedMatching MONDO:0007632 obsolete fragile site, Distamycin a type, rare, fra(16)(q22.1) skos:exactMatch OMIM:136580 fragile site, distamycin a type, rare, fra(16)(q22.1) semapv:UnspecifiedMatching MONDO:0007633 Friedreich ataxia, so-called, with optic atrophy and sensorineural deafness skos:exactMatch MEDGEN:376920 semapv:UnspecifiedMatching MONDO:0007633 Friedreich ataxia, so-called, with optic atrophy and sensorineural deafness skos:exactMatch OMIM:136600 friedreich ataxia, so-called, with optic atrophy and sensorineural deafness semapv:UnspecifiedMatching MONDO:0007633 Friedreich ataxia, so-called, with optic atrophy and sensorineural deafness skos:exactMatch UMLS:C1850982 semapv:UnspecifiedMatching MONDO:0007633 Friedreich ataxia, so-called, with optic atrophy and sensorineural deafness skos:exactMatch mesh:C564999 semapv:UnspecifiedMatching MONDO:0007634 intellectual disability, FRA12A type skos:exactMatch DOID:0061049 autosomal dominant intellectual developmental disorder type FRA12A semapv:UnspecifiedMatching MONDO:0007634 intellectual disability, FRA12A type skos:exactMatch MEDGEN:369613 semapv:UnspecifiedMatching MONDO:0007634 intellectual disability, FRA12A type skos:exactMatch OMIM:136630 intellectual developmental disorder, fra12a type semapv:UnspecifiedMatching MONDO:0007634 intellectual disability, FRA12A type skos:exactMatch UMLS:C1969893 semapv:UnspecifiedMatching MONDO:0007634 intellectual disability, FRA12A type skos:exactMatch mesh:C566980 semapv:UnspecifiedMatching MONDO:0007635 Frasier syndrome skos:exactMatch DOID:0050438 Frasier syndrome semapv:UnspecifiedMatching MONDO:0007635 Frasier syndrome skos:exactMatch MEDGEN:215533 semapv:UnspecifiedMatching MONDO:0007635 Frasier syndrome skos:exactMatch NCIT:C122805 Frasier Syndrome semapv:UnspecifiedMatching MONDO:0007635 Frasier syndrome skos:exactMatch OMIM:136680 frasier syndrome semapv:UnspecifiedMatching MONDO:0007635 Frasier syndrome skos:exactMatch Orphanet:347 Frasier syndrome semapv:UnspecifiedMatching MONDO:0007635 Frasier syndrome skos:exactMatch SCTID:445431000 semapv:UnspecifiedMatching MONDO:0007635 Frasier syndrome skos:exactMatch UMLS:C0950122 semapv:UnspecifiedMatching MONDO:0007635 Frasier syndrome skos:exactMatch icd11.foundation:1659542949 Frasier syndrome semapv:UnspecifiedMatching MONDO:0007635 Frasier syndrome skos:exactMatch mesh:D052159 semapv:UnspecifiedMatching MONDO:0007636 frontorhiny skos:exactMatch DOID:0081045 frontonasal dysplasia 1 semapv:UnspecifiedMatching MONDO:0007636 frontorhiny skos:exactMatch MEDGEN:1803615 semapv:UnspecifiedMatching MONDO:0007636 frontorhiny skos:exactMatch NCIT:C129028 Frontonasal Dysplasia semapv:UnspecifiedMatching MONDO:0007636 frontorhiny skos:exactMatch OMIM:136760 frontonasal dysplasia 1 semapv:UnspecifiedMatching MONDO:0007636 frontorhiny skos:exactMatch Orphanet:391474 Frontorhiny semapv:UnspecifiedMatching MONDO:0007636 frontorhiny skos:exactMatch UMLS:C5574965 semapv:UnspecifiedMatching MONDO:0007637 corneal dystrophy, Fuchs endothelial, 1 skos:exactMatch MEDGEN:338172 semapv:UnspecifiedMatching MONDO:0007637 corneal dystrophy, Fuchs endothelial, 1 skos:exactMatch OMIM:136800 corneal dystrophy, fuchs endothelial, 1 semapv:UnspecifiedMatching MONDO:0007637 corneal dystrophy, Fuchs endothelial, 1 skos:exactMatch UMLS:C1850959 semapv:UnspecifiedMatching MONDO:0007637 corneal dystrophy, Fuchs endothelial, 1 skos:exactMatch mesh:C535478 semapv:UnspecifiedMatching MONDO:0007638 fucosidase regulator skos:exactMatch MEDGEN:342631 semapv:UnspecifiedMatching MONDO:0007638 fucosidase regulator skos:exactMatch OMIM:136830 fucosidase regulator semapv:UnspecifiedMatching MONDO:0007638 fucosidase regulator skos:exactMatch UMLS:C1850954 semapv:UnspecifiedMatching MONDO:0007639 fundus albipunctatus skos:exactMatch DOID:11105 fundus albipunctatus semapv:UnspecifiedMatching MONDO:0007639 fundus albipunctatus skos:exactMatch MEDGEN:86317 semapv:UnspecifiedMatching MONDO:0007639 fundus albipunctatus skos:exactMatch OMIM:136880 fundus albipunctatus semapv:UnspecifiedMatching MONDO:0007639 fundus albipunctatus skos:exactMatch Orphanet:227796 Fundus albipunctatus semapv:UnspecifiedMatching MONDO:0007639 fundus albipunctatus skos:exactMatch SCTID:68222009 semapv:UnspecifiedMatching MONDO:0007639 fundus albipunctatus skos:exactMatch UMLS:C0311338 semapv:UnspecifiedMatching MONDO:0007639 fundus albipunctatus skos:exactMatch icd11.foundation:1981512475 Fundus albipunctatus semapv:UnspecifiedMatching MONDO:0007639 fundus albipunctatus skos:exactMatch mesh:C562733 semapv:UnspecifiedMatching MONDO:0007640 Sorsby fundus dystrophy skos:exactMatch DOID:0090114 Sorsby's fundus dystrophy semapv:UnspecifiedMatching MONDO:0007640 Sorsby fundus dystrophy skos:exactMatch MEDGEN:338164 semapv:UnspecifiedMatching MONDO:0007640 Sorsby fundus dystrophy skos:exactMatch OMIM:136900 sorsby fundus dystrophy semapv:UnspecifiedMatching MONDO:0007640 Sorsby fundus dystrophy skos:exactMatch Orphanet:59181 Sorsby pseudoinflammatory fundus dystrophy semapv:UnspecifiedMatching MONDO:0007640 Sorsby fundus dystrophy skos:exactMatch SCTID:193410003 semapv:UnspecifiedMatching MONDO:0007640 Sorsby fundus dystrophy skos:exactMatch UMLS:C1850938 semapv:UnspecifiedMatching MONDO:0007640 Sorsby fundus dystrophy skos:exactMatch icd11.foundation:796458172 Sorsby fundus dystrophy semapv:UnspecifiedMatching MONDO:0007640 Sorsby fundus dystrophy skos:exactMatch mesh:C564992 semapv:UnspecifiedMatching MONDO:0007641 obsolete Futcher line skos:exactMatch OMIM:137000 futcher line semapv:UnspecifiedMatching MONDO:0007642 isolated agenesis of gallbladder skos:exactMatch MEDGEN:82736 semapv:UnspecifiedMatching MONDO:0007642 isolated agenesis of gallbladder skos:exactMatch OMIM:137040 gallbladder, agenesis of semapv:UnspecifiedMatching MONDO:0007642 isolated agenesis of gallbladder skos:exactMatch Orphanet:440987 Isolated agenesis of gallbladder semapv:UnspecifiedMatching MONDO:0007642 isolated agenesis of gallbladder skos:exactMatch UMLS:C0266251 semapv:UnspecifiedMatching MONDO:0007642 isolated agenesis of gallbladder skos:exactMatch mesh:C562564 semapv:UnspecifiedMatching MONDO:0007643 gamma-A-globulin, defect in assembly of skos:exactMatch MEDGEN:342627 semapv:UnspecifiedMatching MONDO:0007643 gamma-A-globulin, defect in assembly of skos:exactMatch OMIM:137050 gamma-a-globulin, defect 1n assembly of semapv:UnspecifiedMatching MONDO:0007643 gamma-A-globulin, defect in assembly of skos:exactMatch UMLS:C1850934 semapv:UnspecifiedMatching MONDO:0007643 gamma-A-globulin, defect in assembly of skos:exactMatch mesh:C564991 semapv:UnspecifiedMatching MONDO:0007644 IgAD1 skos:exactMatch MEDGEN:419725 semapv:UnspecifiedMatching MONDO:0007644 IgAD1 skos:exactMatch NCIT:C123434 Immunoglobulin A Deficiency 1 semapv:UnspecifiedMatching MONDO:0007644 IgAD1 skos:exactMatch OMIM:137100 immunoglobulin a deficiency 1 semapv:UnspecifiedMatching MONDO:0007644 IgAD1 skos:exactMatch UMLS:C2931161 semapv:UnspecifiedMatching MONDO:0007644 IgAD1 skos:exactMatch mesh:C536290 semapv:UnspecifiedMatching MONDO:0007645 obsolete gastric sneezing skos:exactMatch OMIM:137130 gastric sneezing semapv:UnspecifiedMatching MONDO:0007645 obsolete gastric sneezing skos:exactMatch mesh:C564990 semapv:UnspecifiedMatching MONDO:0007646 Gamstorp-Wohlfart syndrome skos:exactMatch DOID:0050526 Gamstorp-Wohlfart syndrome semapv:UnspecifiedMatching MONDO:0007646 Gamstorp-Wohlfart syndrome skos:exactMatch MEDGEN:1814513 semapv:UnspecifiedMatching MONDO:0007646 Gamstorp-Wohlfart syndrome skos:exactMatch OMIM:137200 neuromyotonia and axonal neuropathy, autosomal recessive semapv:UnspecifiedMatching MONDO:0007646 Gamstorp-Wohlfart syndrome skos:exactMatch Orphanet:324442 Autosomal recessive axonal neuropathy with neuromyotonia semapv:UnspecifiedMatching MONDO:0007646 Gamstorp-Wohlfart syndrome skos:exactMatch SCTID:711406009 semapv:UnspecifiedMatching MONDO:0007646 Gamstorp-Wohlfart syndrome skos:exactMatch UMLS:C5700127 semapv:UnspecifiedMatching MONDO:0007646 Gamstorp-Wohlfart syndrome skos:exactMatch icd11.foundation:1738677442 Gamstorp-Wohlfart syndrome semapv:UnspecifiedMatching MONDO:0007647 gastric volvulus, intrathoracic skos:exactMatch MEDGEN:338155 semapv:UnspecifiedMatching MONDO:0007647 gastric volvulus, intrathoracic skos:exactMatch OMIM:137210 gastric volvulus, intrathoracic semapv:UnspecifiedMatching MONDO:0007647 gastric volvulus, intrathoracic skos:exactMatch UMLS:C1850902 semapv:UnspecifiedMatching MONDO:0007647 gastric volvulus, intrathoracic skos:exactMatch mesh:C564989 semapv:UnspecifiedMatching MONDO:0007648 hereditary diffuse gastric adenocarcinoma skos:exactMatch DOID:0080764 hereditary diffuse gastric cancer semapv:UnspecifiedMatching MONDO:0007648 hereditary diffuse gastric adenocarcinoma skos:exactMatch MEDGEN:310839 semapv:UnspecifiedMatching MONDO:0007648 hereditary diffuse gastric adenocarcinoma skos:exactMatch NCIT:C43295 Hereditary Gastric Diffuse Adenocarcinoma semapv:UnspecifiedMatching MONDO:0007648 hereditary diffuse gastric adenocarcinoma skos:exactMatch Orphanet:26106 Hereditary diffuse gastric cancer semapv:UnspecifiedMatching MONDO:0007648 hereditary diffuse gastric adenocarcinoma skos:exactMatch SCTID:716859000 semapv:UnspecifiedMatching MONDO:0007648 hereditary diffuse gastric adenocarcinoma skos:exactMatch UMLS:C1708349 semapv:UnspecifiedMatching MONDO:0007649 obsolete gastric juice peptides skos:exactMatch OMIM:137220 gastric juice peptides semapv:UnspecifiedMatching MONDO:0007650 MALT lymphoma skos:exactMatch DOID:0050909 extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue semapv:UnspecifiedMatching MONDO:0007650 MALT lymphoma skos:exactMatch EFO:0000191 semapv:UnspecifiedMatching MONDO:0007650 MALT lymphoma skos:exactMatch ICD10CM:C88.4 Extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue [MALT-lymphoma] semapv:UnspecifiedMatching MONDO:0007650 MALT lymphoma skos:exactMatch MEDGEN:66942 semapv:UnspecifiedMatching MONDO:0007650 MALT lymphoma skos:exactMatch NCIT:C3898 Extranodal Marginal Zone Lymphoma of Mucosa-Associated Lymphoid Tissue semapv:UnspecifiedMatching MONDO:0007650 MALT lymphoma skos:exactMatch OMIM:137245 lymphoma, mucosa-associated lymphoid type semapv:UnspecifiedMatching MONDO:0007650 MALT lymphoma skos:exactMatch Orphanet:52417 MALT lymphoma semapv:UnspecifiedMatching MONDO:0007650 MALT lymphoma skos:exactMatch SCTID:277622004 semapv:UnspecifiedMatching MONDO:0007650 MALT lymphoma skos:exactMatch UMLS:C0242647 semapv:UnspecifiedMatching MONDO:0007651 gastrocutaneous syndrome skos:exactMatch MEDGEN:338154 semapv:UnspecifiedMatching MONDO:0007651 gastrocutaneous syndrome skos:exactMatch OMIM:137270 gastrocutaneous syndrome semapv:UnspecifiedMatching MONDO:0007651 gastrocutaneous syndrome skos:exactMatch Orphanet:2069 Gastrocutaneous syndrome semapv:UnspecifiedMatching MONDO:0007651 gastrocutaneous syndrome skos:exactMatch UMLS:C1850899 semapv:UnspecifiedMatching MONDO:0007651 gastrocutaneous syndrome skos:exactMatch icd11.foundation:1431211717 Gastrocutaneous syndrome semapv:UnspecifiedMatching MONDO:0007651 gastrocutaneous syndrome skos:exactMatch mesh:C535651 semapv:UnspecifiedMatching MONDO:0007652 gastric mucosal hypertrophy skos:exactMatch DOID:8757 gastric mucosal hypertrophy semapv:UnspecifiedMatching MONDO:0007652 gastric mucosal hypertrophy skos:exactMatch EFO:1000946 semapv:UnspecifiedMatching MONDO:0007652 gastric mucosal hypertrophy skos:exactMatch MEDGEN:4844 semapv:UnspecifiedMatching MONDO:0007652 gastric mucosal hypertrophy skos:exactMatch NCIT:C67277 Giant Hypertrophic Gastritis semapv:UnspecifiedMatching MONDO:0007652 gastric mucosal hypertrophy skos:exactMatch OMIM:137280 gastritis, familial giant hypertrophic semapv:UnspecifiedMatching MONDO:0007652 gastric mucosal hypertrophy skos:exactMatch Orphanet:2494 Ménétrier disease semapv:UnspecifiedMatching MONDO:0007652 gastric mucosal hypertrophy skos:exactMatch SCTID:60002000 semapv:UnspecifiedMatching MONDO:0007652 gastric mucosal hypertrophy skos:exactMatch UMLS:C0017155 semapv:UnspecifiedMatching MONDO:0007652 gastric mucosal hypertrophy skos:exactMatch icd11.foundation:1343994188 Menetrier disease semapv:UnspecifiedMatching MONDO:0007652 gastric mucosal hypertrophy skos:exactMatch mesh:D005758 semapv:UnspecifiedMatching MONDO:0007653 genochondromatosis skos:exactMatch MEDGEN:224887 semapv:UnspecifiedMatching MONDO:0007653 genochondromatosis skos:exactMatch OMIM:137360 genochondromatosis semapv:UnspecifiedMatching MONDO:0007653 genochondromatosis skos:exactMatch SCTID:389264005 semapv:UnspecifiedMatching MONDO:0007653 genochondromatosis skos:exactMatch UMLS:C1300229 semapv:UnspecifiedMatching MONDO:0007653 genochondromatosis skos:exactMatch icd11.foundation:1222756922 Genochondromatosis semapv:UnspecifiedMatching MONDO:0007653 genochondromatosis skos:exactMatch mesh:C563215 semapv:UnspecifiedMatching MONDO:0007654 genu valgum, st. Helena familial skos:exactMatch MEDGEN:333980 semapv:UnspecifiedMatching MONDO:0007654 genu valgum, st. Helena familial skos:exactMatch OMIM:137370 genu valgum, st. helena familial semapv:UnspecifiedMatching MONDO:0007654 genu valgum, st. Helena familial skos:exactMatch UMLS:C1842052 semapv:UnspecifiedMatching MONDO:0007654 genu valgum, st. Helena familial skos:exactMatch mesh:C537685 semapv:UnspecifiedMatching MONDO:0007655 fissured tongue skos:exactMatch DOID:11514 fissured tongue semapv:UnspecifiedMatching MONDO:0007655 fissured tongue skos:exactMatch ICD10CM:K14.5 Plicated tongue semapv:UnspecifiedMatching MONDO:0007655 fissured tongue skos:exactMatch MEDGEN:1624209 semapv:UnspecifiedMatching MONDO:0007655 fissured tongue skos:exactMatch OMIM:137400 geographic and fissured tongue semapv:UnspecifiedMatching MONDO:0007655 fissured tongue skos:exactMatch SCTID:52368004 semapv:UnspecifiedMatching MONDO:0007655 fissured tongue skos:exactMatch UMLS:C4540616 semapv:UnspecifiedMatching MONDO:0007655 fissured tongue skos:exactMatch icd11.foundation:699700094 Fissured tongue semapv:UnspecifiedMatching MONDO:0007655 fissured tongue skos:exactMatch mesh:D014063 semapv:UnspecifiedMatching MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome skos:exactMatch DOID:4249 Gerstmann-Straussler-Scheinker syndrome semapv:UnspecifiedMatching MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome skos:exactMatch ICD10CM:A81.82 Gerstmann-Sträussler-Scheinker syndrome semapv:UnspecifiedMatching MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome skos:exactMatch MEDGEN:4886 semapv:UnspecifiedMatching MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome skos:exactMatch NCIT:C84727 Gerstmann-Straussler-Scheinker Disease semapv:UnspecifiedMatching MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome skos:exactMatch OMIM:137440 gerstmann-straussler disease semapv:UnspecifiedMatching MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome skos:exactMatch Orphanet:356 Gerstmann-Straussler-Scheinker syndrome semapv:UnspecifiedMatching MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome skos:exactMatch SCTID:67155006 semapv:UnspecifiedMatching MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome skos:exactMatch UMLS:C0017495 semapv:UnspecifiedMatching MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome skos:exactMatch icd11.foundation:406818835 Gerstmann-Straussler-Scheinker syndrome semapv:UnspecifiedMatching MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome skos:exactMatch mesh:C535800 semapv:UnspecifiedMatching MONDO:0007657 giant neutrophil leukocytes skos:exactMatch MEDGEN:330754 semapv:UnspecifiedMatching MONDO:0007657 giant neutrophil leukocytes skos:exactMatch OMIM:137500 giant neutrophil leukocytes semapv:UnspecifiedMatching MONDO:0007657 giant neutrophil leukocytes skos:exactMatch UMLS:C1842039 semapv:UnspecifiedMatching MONDO:0007659 obsolete giant platelet syndrome with thrombocytopenia skos:exactMatch OMIM:137560 semapv:UnspecifiedMatching MONDO:0007659 obsolete giant platelet syndrome with thrombocytopenia skos:exactMatch mesh:C564237 semapv:UnspecifiedMatching MONDO:0007660 familial ossifying fibroma skos:exactMatch MEDGEN:501159 semapv:UnspecifiedMatching MONDO:0007660 familial ossifying fibroma skos:exactMatch OMIM:137575 gigantiform cementoma, familial semapv:UnspecifiedMatching MONDO:0007660 familial ossifying fibroma skos:exactMatch Orphanet:435329 Familial ossifying fibroma semapv:UnspecifiedMatching MONDO:0007660 familial ossifying fibroma skos:exactMatch UMLS:C3495361 semapv:UnspecifiedMatching MONDO:0007660 familial ossifying fibroma skos:exactMatch mesh:C563017 semapv:UnspecifiedMatching MONDO:0007661 Tourette syndrome skos:exactMatch DOID:11119 Gilles de la Tourette syndrome semapv:UnspecifiedMatching MONDO:0007661 Tourette syndrome skos:exactMatch EFO:0004895 semapv:UnspecifiedMatching MONDO:0007661 Tourette syndrome skos:exactMatch ICD10CM:F95.2 Tourette's disorder semapv:UnspecifiedMatching MONDO:0007661 Tourette syndrome skos:exactMatch MEDGEN:21219 semapv:UnspecifiedMatching MONDO:0007661 Tourette syndrome skos:exactMatch NCIT:C35078 Tourette Syndrome semapv:UnspecifiedMatching MONDO:0007661 Tourette syndrome skos:exactMatch OMIM:137580 gilles lange 50a tourette syndrome semapv:UnspecifiedMatching MONDO:0007661 Tourette syndrome skos:exactMatch SCTID:5158005 semapv:UnspecifiedMatching MONDO:0007661 Tourette syndrome skos:exactMatch UMLS:C0040517 semapv:UnspecifiedMatching MONDO:0007661 Tourette syndrome skos:exactMatch icd11.foundation:119340957 Tourette syndrome semapv:UnspecifiedMatching MONDO:0007661 Tourette syndrome skos:exactMatch mesh:D005879 semapv:UnspecifiedMatching MONDO:0007662 anterior segment dysgenesis 4 skos:exactMatch DOID:0080609 anterior segment dysgenesis 4 semapv:UnspecifiedMatching MONDO:0007662 anterior segment dysgenesis 4 skos:exactMatch MEDGEN:330750 semapv:UnspecifiedMatching MONDO:0007662 anterior segment dysgenesis 4 skos:exactMatch OMIM:137600 anterior segment dysgenesis 4 semapv:UnspecifiedMatching MONDO:0007662 anterior segment dysgenesis 4 skos:exactMatch UMLS:C1842031 semapv:UnspecifiedMatching MONDO:0007663 glaucoma with elevated episcleral venous pressure skos:exactMatch MEDGEN:333975 semapv:UnspecifiedMatching MONDO:0007663 glaucoma with elevated episcleral venous pressure skos:exactMatch OMIM:137700 glaucoma with elevated episcleral venous pressure semapv:UnspecifiedMatching MONDO:0007663 glaucoma with elevated episcleral venous pressure skos:exactMatch UMLS:C1842030 semapv:UnspecifiedMatching MONDO:0007663 glaucoma with elevated episcleral venous pressure skos:exactMatch mesh:C564235 semapv:UnspecifiedMatching MONDO:0007664 glaucoma 1, open angle, A skos:exactMatch MEDGEN:333974 semapv:UnspecifiedMatching MONDO:0007664 glaucoma 1, open angle, A skos:exactMatch OMIM:137750 glaucoma 1, open angle, a semapv:UnspecifiedMatching MONDO:0007664 glaucoma 1, open angle, A skos:exactMatch UMLS:C1842028 semapv:UnspecifiedMatching MONDO:0007664 glaucoma 1, open angle, A skos:exactMatch mesh:C564234 semapv:UnspecifiedMatching MONDO:0007665 obsolete glaucoma 1, open angle, E skos:exactMatch DOID:1070 primary open angle glaucoma semapv:UnspecifiedMatching MONDO:0007665 obsolete glaucoma 1, open angle, E skos:exactMatch NCIT:C35394 Primary Open Angle Glaucoma semapv:UnspecifiedMatching MONDO:0007665 obsolete glaucoma 1, open angle, E skos:exactMatch SCTID:77075001 semapv:UnspecifiedMatching MONDO:0007665 obsolete glaucoma 1, open angle, E skos:exactMatch mesh:C562750 semapv:UnspecifiedMatching MONDO:0007666 glaucoma-sleep apnea syndrome skos:exactMatch MEDGEN:330749 semapv:UnspecifiedMatching MONDO:0007666 glaucoma-sleep apnea syndrome skos:exactMatch OMIM:137763 glaucoma and sleep apnea semapv:UnspecifiedMatching MONDO:0007666 glaucoma-sleep apnea syndrome skos:exactMatch Orphanet:2085 Glaucoma-sleep apnea syndrome semapv:UnspecifiedMatching MONDO:0007666 glaucoma-sleep apnea syndrome skos:exactMatch UMLS:C1842025 semapv:UnspecifiedMatching MONDO:0007666 glaucoma-sleep apnea syndrome skos:exactMatch mesh:C564232 semapv:UnspecifiedMatching MONDO:0007667 subependymoma skos:exactMatch DOID:4843 subependymal glioma semapv:UnspecifiedMatching MONDO:0007667 subependymoma skos:exactMatch EFO:1000553 semapv:UnspecifiedMatching MONDO:0007667 subependymoma skos:exactMatch MEDGEN:64637 semapv:UnspecifiedMatching MONDO:0007667 subependymoma skos:exactMatch NCIT:C3795 Subependymoma semapv:UnspecifiedMatching MONDO:0007667 subependymoma skos:exactMatch Orphanet:251639 Subependymoma semapv:UnspecifiedMatching MONDO:0007667 subependymoma skos:exactMatch UMLS:C0206725 semapv:UnspecifiedMatching MONDO:0007667 subependymoma skos:exactMatch mesh:D018315 semapv:UnspecifiedMatching MONDO:0007668 globulin anomaly involving beta (2A)-globulin skos:exactMatch MEDGEN:330741 semapv:UnspecifiedMatching MONDO:0007668 globulin anomaly involving beta (2A)-globulin skos:exactMatch OMIM:137900 globulin anomaly involving beta (2a)-globulin semapv:UnspecifiedMatching MONDO:0007668 globulin anomaly involving beta (2A)-globulin skos:exactMatch UMLS:C1842009 semapv:UnspecifiedMatching MONDO:0007668 globulin anomaly involving beta (2A)-globulin skos:exactMatch mesh:C564229 semapv:UnspecifiedMatching MONDO:0007669 renal cysts and diabetes syndrome skos:exactMatch DOID:0111101 renal cysts and diabetes syndrome semapv:UnspecifiedMatching MONDO:0007669 renal cysts and diabetes syndrome skos:exactMatch MEDGEN:96569 semapv:UnspecifiedMatching MONDO:0007669 renal cysts and diabetes syndrome skos:exactMatch NCIT:C123018 Renal Cysts and Diabetes Syndrome semapv:UnspecifiedMatching MONDO:0007669 renal cysts and diabetes syndrome skos:exactMatch OMIM:137920 renal cysts and diabetes syndrome semapv:UnspecifiedMatching MONDO:0007669 renal cysts and diabetes syndrome skos:exactMatch Orphanet:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease semapv:UnspecifiedMatching MONDO:0007669 renal cysts and diabetes syndrome skos:exactMatch SCTID:446641003 semapv:UnspecifiedMatching MONDO:0007669 renal cysts and diabetes syndrome skos:exactMatch UMLS:C0431693 semapv:UnspecifiedMatching MONDO:0007669 renal cysts and diabetes syndrome skos:exactMatch mesh:C535520 semapv:UnspecifiedMatching MONDO:0007670 hypotrichosis-lymphedema-telangiectasia syndrome (grouping) skos:exactMatch Orphanet:69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome semapv:UnspecifiedMatching MONDO:0007671 fibronectin glomerulopathy skos:exactMatch MEDGEN:854773 semapv:UnspecifiedMatching MONDO:0007671 fibronectin glomerulopathy skos:exactMatch OMIMPS:137950 Glomerulopathy with fibronectin deposits semapv:UnspecifiedMatching MONDO:0007671 fibronectin glomerulopathy skos:exactMatch Orphanet:84090 Fibronectin glomerulopathy semapv:UnspecifiedMatching MONDO:0007671 fibronectin glomerulopathy skos:exactMatch SCTID:236535001 semapv:UnspecifiedMatching MONDO:0007671 fibronectin glomerulopathy skos:exactMatch UMLS:C3888104 semapv:UnspecifiedMatching MONDO:0007671 fibronectin glomerulopathy skos:exactMatch icd11.foundation:1877494378 Fibronectin glomerulopathy semapv:UnspecifiedMatching MONDO:0007671 fibronectin glomerulopathy skos:exactMatch mesh:C536826 semapv:UnspecifiedMatching MONDO:0007671 fibronectin glomerulopathy skos:exactMatch mesh:C562900 semapv:UnspecifiedMatching MONDO:0007672 glomuvenous malformation skos:exactMatch DOID:7996 familial glomangioma semapv:UnspecifiedMatching MONDO:0007672 glomuvenous malformation skos:exactMatch MEDGEN:374834 semapv:UnspecifiedMatching MONDO:0007672 glomuvenous malformation skos:exactMatch NCIT:C5350 Hereditary Glomuvenous Malformation semapv:UnspecifiedMatching MONDO:0007672 glomuvenous malformation skos:exactMatch OMIM:138000 glomuvenous malformations semapv:UnspecifiedMatching MONDO:0007672 glomuvenous malformation skos:exactMatch Orphanet:83454 Glomuvenous malformation semapv:UnspecifiedMatching MONDO:0007672 glomuvenous malformation skos:exactMatch SCTID:715644000 semapv:UnspecifiedMatching MONDO:0007672 glomuvenous malformation skos:exactMatch UMLS:C1841984 semapv:UnspecifiedMatching MONDO:0007672 glomuvenous malformation skos:exactMatch icd11.foundation:2095305475 Glomuvenous malformation semapv:UnspecifiedMatching MONDO:0007672 glomuvenous malformation skos:exactMatch mesh:C536827 semapv:UnspecifiedMatching MONDO:0007673 Glucoglycinuria skos:exactMatch MEDGEN:78686 semapv:UnspecifiedMatching MONDO:0007673 Glucoglycinuria skos:exactMatch OMIM:138070 glucoglycinuria semapv:UnspecifiedMatching MONDO:0007673 Glucoglycinuria skos:exactMatch UMLS:C0268536 semapv:UnspecifiedMatching MONDO:0007673 Glucoglycinuria skos:exactMatch icd11.foundation:2034546543 Glucoglycinuria semapv:UnspecifiedMatching MONDO:0007673 Glucoglycinuria skos:exactMatch mesh:C562670 semapv:UnspecifiedMatching MONDO:0007674 glucose-6-phosphate dehydrogenase-like skos:exactMatch MEDGEN:236373 semapv:UnspecifiedMatching MONDO:0007674 glucose-6-phosphate dehydrogenase-like skos:exactMatch OMIM:138110 glucose-6-phosphate dehydrogenase-like semapv:UnspecifiedMatching MONDO:0007674 glucose-6-phosphate dehydrogenase-like skos:exactMatch UMLS:C1414893 semapv:UnspecifiedMatching MONDO:0007675 glutamic acid decarboxylase, brain, membrane form skos:exactMatch MEDGEN:333943 semapv:UnspecifiedMatching MONDO:0007675 glutamic acid decarboxylase, brain, membrane form skos:exactMatch OMIM:138277 glutamic acid decarboxylase, brain, membrane form semapv:UnspecifiedMatching MONDO:0007675 glutamic acid decarboxylase, brain, membrane form skos:exactMatch UMLS:C1841911 semapv:UnspecifiedMatching MONDO:0007676 glutathione transferase activity toward trans-stilbene oxide skos:exactMatch MEDGEN:330718 semapv:UnspecifiedMatching MONDO:0007676 glutathione transferase activity toward trans-stilbene oxide skos:exactMatch OMIM:138340 glutathione transferase activity toward trans-stilbene oxide semapv:UnspecifiedMatching MONDO:0007676 glutathione transferase activity toward trans-stilbene oxide skos:exactMatch UMLS:C1841901 semapv:UnspecifiedMatching MONDO:0007677 hyperglycinuria skos:exactMatch MEDGEN:107456 semapv:UnspecifiedMatching MONDO:0007677 hyperglycinuria skos:exactMatch OMIM:138500 hyperglycinuria semapv:UnspecifiedMatching MONDO:0007677 hyperglycinuria skos:exactMatch UMLS:C0543541 semapv:UnspecifiedMatching MONDO:0007677 hyperglycinuria skos:exactMatch mesh:C563009 semapv:UnspecifiedMatching MONDO:0007678 obsolete glycoprotein, renal skos:exactMatch OMIM:138710 glycoprotein, renal semapv:UnspecifiedMatching MONDO:0007679 GMS syndrome skos:exactMatch MEDGEN:374804 semapv:UnspecifiedMatching MONDO:0007679 GMS syndrome skos:exactMatch OMIM:138770 gms syndrome semapv:UnspecifiedMatching MONDO:0007679 GMS syndrome skos:exactMatch Orphanet:2090 GMS syndrome semapv:UnspecifiedMatching MONDO:0007679 GMS syndrome skos:exactMatch SCTID:716024001 semapv:UnspecifiedMatching MONDO:0007679 GMS syndrome skos:exactMatch UMLS:C1841854 semapv:UnspecifiedMatching MONDO:0007679 GMS syndrome skos:exactMatch mesh:C564214 semapv:UnspecifiedMatching MONDO:0007680 multinodular goiter-cystic kidney-polydactyly syndrome skos:exactMatch MEDGEN:333929 semapv:UnspecifiedMatching MONDO:0007680 multinodular goiter-cystic kidney-polydactyly syndrome skos:exactMatch OMIM:138790 goiter, multinodular, cystic renal disease, and digital anomalies semapv:UnspecifiedMatching MONDO:0007680 multinodular goiter-cystic kidney-polydactyly syndrome skos:exactMatch Orphanet:2091 Multinodular goiter-cystic kidney-polydactyly syndrome semapv:UnspecifiedMatching MONDO:0007680 multinodular goiter-cystic kidney-polydactyly syndrome skos:exactMatch SCTID:723409007 semapv:UnspecifiedMatching MONDO:0007680 multinodular goiter-cystic kidney-polydactyly syndrome skos:exactMatch UMLS:C1841853 semapv:UnspecifiedMatching MONDO:0007680 multinodular goiter-cystic kidney-polydactyly syndrome skos:exactMatch mesh:C535986 semapv:UnspecifiedMatching MONDO:0007681 goiter, multinodular 1, with or without Sertoli-Leydig cell tumors skos:exactMatch MEDGEN:86230 semapv:UnspecifiedMatching MONDO:0007681 goiter, multinodular 1, with or without Sertoli-Leydig cell tumors skos:exactMatch OMIM:138800 goiter, multinodular 1, with or without sertoli-leydig cell tumors semapv:UnspecifiedMatching MONDO:0007681 goiter, multinodular 1, with or without Sertoli-Leydig cell tumors skos:exactMatch Orphanet:276399 Familial multinodular goiter semapv:UnspecifiedMatching MONDO:0007681 goiter, multinodular 1, with or without Sertoli-Leydig cell tumors skos:exactMatch SCTID:267369002 semapv:UnspecifiedMatching MONDO:0007681 goiter, multinodular 1, with or without Sertoli-Leydig cell tumors skos:exactMatch UMLS:C0302859 semapv:UnspecifiedMatching MONDO:0007681 goiter, multinodular 1, with or without Sertoli-Leydig cell tumors skos:exactMatch mesh:C562732 semapv:UnspecifiedMatching MONDO:0007682 granddad syndrome skos:exactMatch MEDGEN:330701 semapv:UnspecifiedMatching MONDO:0007682 granddad syndrome skos:exactMatch OMIM:138920 granddad syndrome semapv:UnspecifiedMatching MONDO:0007682 granddad syndrome skos:exactMatch UMLS:C1841836 semapv:UnspecifiedMatching MONDO:0007682 granddad syndrome skos:exactMatch mesh:C564211 semapv:UnspecifiedMatching MONDO:0007683 Grant syndrome skos:exactMatch MEDGEN:333925 semapv:UnspecifiedMatching MONDO:0007683 Grant syndrome skos:exactMatch OMIM:138930 grant syndrome semapv:UnspecifiedMatching MONDO:0007683 Grant syndrome skos:exactMatch Orphanet:2097 Grant syndrome semapv:UnspecifiedMatching MONDO:0007683 Grant syndrome skos:exactMatch SCTID:723827003 semapv:UnspecifiedMatching MONDO:0007683 Grant syndrome skos:exactMatch UMLS:C1841835 semapv:UnspecifiedMatching MONDO:0007683 Grant syndrome skos:exactMatch icd11.foundation:1320218486 Grant syndrome semapv:UnspecifiedMatching MONDO:0007683 Grant syndrome skos:exactMatch mesh:C537293 semapv:UnspecifiedMatching MONDO:0007685 granulosis rubra nasi skos:exactMatch MEDGEN:78096 semapv:UnspecifiedMatching MONDO:0007685 granulosis rubra nasi skos:exactMatch OMIM:139000 granulosis rubra nasi semapv:UnspecifiedMatching MONDO:0007685 granulosis rubra nasi skos:exactMatch SCTID:22818000 semapv:UnspecifiedMatching MONDO:0007685 granulosis rubra nasi skos:exactMatch UMLS:C0263471 semapv:UnspecifiedMatching MONDO:0007685 granulosis rubra nasi skos:exactMatch icd11.foundation:1871134805 Granulosis rubra nasi semapv:UnspecifiedMatching MONDO:0007685 granulosis rubra nasi skos:exactMatch mesh:C562483 semapv:UnspecifiedMatching MONDO:0007686 gray platelet syndrome skos:exactMatch DOID:0111044 gray platelet syndrome semapv:UnspecifiedMatching MONDO:0007686 gray platelet syndrome skos:exactMatch MEDGEN:82900 semapv:UnspecifiedMatching MONDO:0007686 gray platelet syndrome skos:exactMatch NCIT:C84741 Gray Platelet Syndrome semapv:UnspecifiedMatching MONDO:0007686 gray platelet syndrome skos:exactMatch OMIM:139090 gray platelet syndrome semapv:UnspecifiedMatching MONDO:0007686 gray platelet syndrome skos:exactMatch Orphanet:721 Gray platelet syndrome semapv:UnspecifiedMatching MONDO:0007686 gray platelet syndrome skos:exactMatch SCTID:51720005 semapv:UnspecifiedMatching MONDO:0007686 gray platelet syndrome skos:exactMatch UMLS:C0272302 semapv:UnspecifiedMatching MONDO:0007686 gray platelet syndrome skos:exactMatch icd11.foundation:1818085572 Gray platelet syndrome semapv:UnspecifiedMatching MONDO:0007686 gray platelet syndrome skos:exactMatch mesh:D055652 semapv:UnspecifiedMatching MONDO:0007687 graying of hair, precocious skos:exactMatch MEDGEN:374795 semapv:UnspecifiedMatching MONDO:0007687 graying of hair, precocious skos:exactMatch OMIM:139100 graying of hair, precocious semapv:UnspecifiedMatching MONDO:0007687 graying of hair, precocious skos:exactMatch UMLS:C1841809 semapv:UnspecifiedMatching MONDO:0007687 graying of hair, precocious skos:exactMatch mesh:C564209 semapv:UnspecifiedMatching MONDO:0007688 Myhre syndrome skos:exactMatch MEDGEN:167103 semapv:UnspecifiedMatching MONDO:0007688 Myhre syndrome skos:exactMatch NCIT:C123815 Myhre Syndrome semapv:UnspecifiedMatching MONDO:0007688 Myhre syndrome skos:exactMatch OMIM:139210 myhre syndrome semapv:UnspecifiedMatching MONDO:0007688 Myhre syndrome skos:exactMatch Orphanet:2588 Myhre syndrome semapv:UnspecifiedMatching MONDO:0007688 Myhre syndrome skos:exactMatch SCTID:699316006 semapv:UnspecifiedMatching MONDO:0007688 Myhre syndrome skos:exactMatch UMLS:C0796081 semapv:UnspecifiedMatching MONDO:0007688 Myhre syndrome skos:exactMatch mesh:C537620 semapv:UnspecifiedMatching MONDO:0007689 guanylate kinase 3 skos:exactMatch MEDGEN:331129 semapv:UnspecifiedMatching MONDO:0007689 guanylate kinase 3 skos:exactMatch OMIM:139290 guanylate kinase 3 semapv:UnspecifiedMatching MONDO:0007689 guanylate kinase 3 skos:exactMatch UMLS:C1841763 semapv:UnspecifiedMatching MONDO:0007690 aromatase excess syndrome skos:exactMatch DOID:0090122 aromatase excess syndrome semapv:UnspecifiedMatching MONDO:0007690 aromatase excess syndrome skos:exactMatch MEDGEN:409989 semapv:UnspecifiedMatching MONDO:0007690 aromatase excess syndrome skos:exactMatch OMIM:139300 aromatase excess syndrome semapv:UnspecifiedMatching MONDO:0007690 aromatase excess syndrome skos:exactMatch Orphanet:178345 Aromatase excess syndrome semapv:UnspecifiedMatching MONDO:0007690 aromatase excess syndrome skos:exactMatch SCTID:709075008 semapv:UnspecifiedMatching MONDO:0007690 aromatase excess syndrome skos:exactMatch UMLS:C1970109 semapv:UnspecifiedMatching MONDO:0007690 aromatase excess syndrome skos:exactMatch icd11.foundation:191989744 Aromatase excess syndrome semapv:UnspecifiedMatching MONDO:0007690 aromatase excess syndrome skos:exactMatch mesh:C000591739 semapv:UnspecifiedMatching MONDO:0007691 Guillain-Barre syndrome, familial skos:exactMatch EFO:0009538 semapv:UnspecifiedMatching MONDO:0007691 Guillain-Barre syndrome, familial skos:exactMatch MEDGEN:901636 semapv:UnspecifiedMatching MONDO:0007691 Guillain-Barre syndrome, familial skos:exactMatch OMIM:139393 guillain-barre syndrome, familial semapv:UnspecifiedMatching MONDO:0007691 Guillain-Barre syndrome, familial skos:exactMatch SCTID:716723000 semapv:UnspecifiedMatching MONDO:0007691 Guillain-Barre syndrome, familial skos:exactMatch UMLS:C4083008 semapv:UnspecifiedMatching MONDO:0007692 obsolete hairy ears skos:exactMatch OMIM:139500 hairy ears semapv:UnspecifiedMatching MONDO:0007692 obsolete hairy ears skos:exactMatch SCTID:89000008 semapv:UnspecifiedMatching MONDO:0007692 obsolete hairy ears skos:exactMatch mesh:C562484 semapv:UnspecifiedMatching MONDO:0007693 hypertrichosis cubiti-short stature syndrome skos:exactMatch MEDGEN:870835 semapv:UnspecifiedMatching MONDO:0007693 hypertrichosis cubiti-short stature syndrome skos:exactMatch OMIM:139600 hairy elbows semapv:UnspecifiedMatching MONDO:0007693 hypertrichosis cubiti-short stature syndrome skos:exactMatch Orphanet:2220 Hypertrichosis cubiti semapv:UnspecifiedMatching MONDO:0007693 hypertrichosis cubiti-short stature syndrome skos:exactMatch UMLS:C4025295 semapv:UnspecifiedMatching MONDO:0007693 hypertrichosis cubiti-short stature syndrome skos:exactMatch mesh:C535618 semapv:UnspecifiedMatching MONDO:0007694 hairy nose tip skos:exactMatch MEDGEN:333893 semapv:UnspecifiedMatching MONDO:0007694 hairy nose tip skos:exactMatch OMIM:139630 hairy nose tip semapv:UnspecifiedMatching MONDO:0007694 hairy nose tip skos:exactMatch UMLS:C1841695 semapv:UnspecifiedMatching MONDO:0007694 hairy nose tip skos:exactMatch mesh:C535619 semapv:UnspecifiedMatching MONDO:0007695 hairy palms and soles skos:exactMatch MEDGEN:330667 semapv:UnspecifiedMatching MONDO:0007695 hairy palms and soles skos:exactMatch OMIM:139650 hairy palms and soles semapv:UnspecifiedMatching MONDO:0007695 hairy palms and soles skos:exactMatch UMLS:C1841694 semapv:UnspecifiedMatching MONDO:0007695 hairy palms and soles skos:exactMatch mesh:C535620 semapv:UnspecifiedMatching MONDO:0007696 Emery-Nelson syndrome skos:exactMatch MEDGEN:333892 semapv:UnspecifiedMatching MONDO:0007696 Emery-Nelson syndrome skos:exactMatch OMIM:139750 hand and foot deformity with flat facies semapv:UnspecifiedMatching MONDO:0007696 Emery-Nelson syndrome skos:exactMatch Orphanet:1927 Emery-Nelson syndrome semapv:UnspecifiedMatching MONDO:0007696 Emery-Nelson syndrome skos:exactMatch UMLS:C1841693 semapv:UnspecifiedMatching MONDO:0007696 Emery-Nelson syndrome skos:exactMatch mesh:C535626 semapv:UnspecifiedMatching MONDO:0007697 hand clasping pattern skos:exactMatch MEDGEN:330666 semapv:UnspecifiedMatching MONDO:0007697 hand clasping pattern skos:exactMatch OMIM:139800 hand clasping pattern semapv:UnspecifiedMatching MONDO:0007697 hand clasping pattern skos:exactMatch UMLS:C1841692 semapv:UnspecifiedMatching MONDO:0007698 hand-foot-genital syndrome skos:exactMatch DOID:0060739 hand-foot-genital syndrome semapv:UnspecifiedMatching MONDO:0007698 hand-foot-genital syndrome skos:exactMatch MEDGEN:331103 semapv:UnspecifiedMatching MONDO:0007698 hand-foot-genital syndrome skos:exactMatch OMIM:140000 hand-foot-genital syndrome semapv:UnspecifiedMatching MONDO:0007698 hand-foot-genital syndrome skos:exactMatch Orphanet:2438 Hand-foot-genital syndrome semapv:UnspecifiedMatching MONDO:0007698 hand-foot-genital syndrome skos:exactMatch SCTID:702425002 semapv:UnspecifiedMatching MONDO:0007698 hand-foot-genital syndrome skos:exactMatch UMLS:C1841679 semapv:UnspecifiedMatching MONDO:0007698 hand-foot-genital syndrome skos:exactMatch mesh:C535627 semapv:UnspecifiedMatching MONDO:0007699 Hashimoto thyroiditis skos:exactMatch DOID:7188 autoimmune thyroiditis semapv:UnspecifiedMatching MONDO:0007699 Hashimoto thyroiditis skos:exactMatch EFO:0003779 semapv:UnspecifiedMatching MONDO:0007699 Hashimoto thyroiditis skos:exactMatch ICD10CM:E06.3 Autoimmune thyroiditis semapv:UnspecifiedMatching MONDO:0007699 Hashimoto thyroiditis skos:exactMatch MEDGEN:151769 semapv:UnspecifiedMatching MONDO:0007699 Hashimoto thyroiditis skos:exactMatch NCIT:C27191 Hashimoto Thyroiditis semapv:UnspecifiedMatching MONDO:0007699 Hashimoto thyroiditis skos:exactMatch OMIM:140300 hashimoto thyroiditis semapv:UnspecifiedMatching MONDO:0007699 Hashimoto thyroiditis skos:exactMatch UMLS:C0677607 semapv:UnspecifiedMatching MONDO:0007699 Hashimoto thyroiditis skos:exactMatch icd11.foundation:972507934 Hashimoto thyroiditis semapv:UnspecifiedMatching MONDO:0007699 Hashimoto thyroiditis skos:exactMatch mesh:D050031 semapv:UnspecifiedMatching MONDO:0007700 hawkinsinuria skos:exactMatch DOID:0111362 hawkinsinuria semapv:UnspecifiedMatching MONDO:0007700 hawkinsinuria skos:exactMatch MEDGEN:419319 semapv:UnspecifiedMatching MONDO:0007700 hawkinsinuria skos:exactMatch OMIM:140350 hawkinsinuria semapv:UnspecifiedMatching MONDO:0007700 hawkinsinuria skos:exactMatch Orphanet:2118 Hawkinsinuria semapv:UnspecifiedMatching MONDO:0007700 hawkinsinuria skos:exactMatch SCTID:414380008 semapv:UnspecifiedMatching MONDO:0007700 hawkinsinuria skos:exactMatch UMLS:C2931042 semapv:UnspecifiedMatching MONDO:0007700 hawkinsinuria skos:exactMatch icd11.foundation:786595759 Hawkinsinuria semapv:UnspecifiedMatching MONDO:0007700 hawkinsinuria skos:exactMatch mesh:C535845 semapv:UnspecifiedMatching MONDO:0007701 progressive familial heart block type II skos:exactMatch DOID:0111075 progressive familial heart block type II semapv:UnspecifiedMatching MONDO:0007701 progressive familial heart block type II skos:exactMatch MEDGEN:333884 semapv:UnspecifiedMatching MONDO:0007701 progressive familial heart block type II skos:exactMatch OMIM:140400 progressive familial heart block, type 2 semapv:UnspecifiedMatching MONDO:0007701 progressive familial heart block type II skos:exactMatch SCTID:698251009 semapv:UnspecifiedMatching MONDO:0007701 progressive familial heart block type II skos:exactMatch UMLS:C1841658 semapv:UnspecifiedMatching MONDO:0007701 progressive familial heart block type II skos:exactMatch mesh:C564202 semapv:UnspecifiedMatching MONDO:0007702 heart-hand syndrome type 3 skos:exactMatch MEDGEN:333883 semapv:UnspecifiedMatching MONDO:0007702 heart-hand syndrome type 3 skos:exactMatch OMIM:140450 heart-hand syndrome, spanish type semapv:UnspecifiedMatching MONDO:0007702 heart-hand syndrome type 3 skos:exactMatch Orphanet:1342 Heart-hand syndrome type 3 semapv:UnspecifiedMatching MONDO:0007702 heart-hand syndrome type 3 skos:exactMatch SCTID:721013001 semapv:UnspecifiedMatching MONDO:0007702 heart-hand syndrome type 3 skos:exactMatch UMLS:C1841657 semapv:UnspecifiedMatching MONDO:0007702 heart-hand syndrome type 3 skos:exactMatch icd11.foundation:1878745129 Heart-hand syndrome type 3 semapv:UnspecifiedMatching MONDO:0007702 heart-hand syndrome type 3 skos:exactMatch mesh:C535853 semapv:UnspecifiedMatching MONDO:0007704 osteoarthritis susceptibility 2 skos:exactMatch MEDGEN:854385 semapv:UnspecifiedMatching MONDO:0007704 osteoarthritis susceptibility 2 skos:exactMatch OMIM:140600 osteoarthritis susceptibility 2 semapv:UnspecifiedMatching MONDO:0007704 osteoarthritis susceptibility 2 skos:exactMatch UMLS:C3887526 semapv:UnspecifiedMatching MONDO:0007705 Heinz body anemia skos:exactMatch DOID:0111363 Heinz body anemia semapv:UnspecifiedMatching MONDO:0007705 Heinz body anemia skos:exactMatch MEDGEN:148583 semapv:UnspecifiedMatching MONDO:0007705 Heinz body anemia skos:exactMatch OMIM:140700 heinz body anemias semapv:UnspecifiedMatching MONDO:0007705 Heinz body anemia skos:exactMatch UMLS:C0700299 semapv:UnspecifiedMatching MONDO:0007705 Heinz body anemia skos:exactMatch mesh:C563030 semapv:UnspecifiedMatching MONDO:0007706 cavernous hemangiomas of face-supraumbilical midline raphe syndrome skos:exactMatch MEDGEN:99171 semapv:UnspecifiedMatching MONDO:0007706 cavernous hemangiomas of face-supraumbilical midline raphe syndrome skos:exactMatch OMIM:140850 hemangiomas, cavernous, of face and supraumbilical midline raphe semapv:UnspecifiedMatching MONDO:0007706 cavernous hemangiomas of face-supraumbilical midline raphe syndrome skos:exactMatch SCTID:234140000 semapv:UnspecifiedMatching MONDO:0007706 cavernous hemangiomas of face-supraumbilical midline raphe syndrome skos:exactMatch UMLS:C0472694 semapv:UnspecifiedMatching MONDO:0007706 cavernous hemangiomas of face-supraumbilical midline raphe syndrome skos:exactMatch mesh:C538144 semapv:UnspecifiedMatching MONDO:0007707 hemangiomas of small intestine skos:exactMatch MEDGEN:331098 semapv:UnspecifiedMatching MONDO:0007707 hemangiomas of small intestine skos:exactMatch OMIM:140900 hemangiomas of small intestine semapv:UnspecifiedMatching MONDO:0007707 hemangiomas of small intestine skos:exactMatch UMLS:C1841654 semapv:UnspecifiedMatching MONDO:0007707 hemangiomas of small intestine skos:exactMatch mesh:C564201 semapv:UnspecifiedMatching MONDO:0007708 Kasabach-Merritt syndrome skos:exactMatch MEDGEN:65122 semapv:UnspecifiedMatching MONDO:0007708 Kasabach-Merritt syndrome skos:exactMatch NCIT:C3821 Hemangiomatosis with Thrombocytopenia semapv:UnspecifiedMatching MONDO:0007708 Kasabach-Merritt syndrome skos:exactMatch OMIM:141000 hemangioma-thrombocytopenia syndrome semapv:UnspecifiedMatching MONDO:0007708 Kasabach-Merritt syndrome skos:exactMatch Orphanet:2330 Kasabach-Merritt phenomenon semapv:UnspecifiedMatching MONDO:0007708 Kasabach-Merritt syndrome skos:exactMatch SCTID:86635005 semapv:UnspecifiedMatching MONDO:0007708 Kasabach-Merritt syndrome skos:exactMatch UMLS:C0221025 semapv:UnspecifiedMatching MONDO:0007708 Kasabach-Merritt syndrome skos:exactMatch icd11.foundation:2059601885 Kasabach-Merritt syndrome semapv:UnspecifiedMatching MONDO:0007708 Kasabach-Merritt syndrome skos:exactMatch mesh:D059885 semapv:UnspecifiedMatching MONDO:0007709 hematuria, benign familial, 1 skos:exactMatch OMIM:141200 hematuria, benign familial, 1 semapv:UnspecifiedMatching MONDO:0007710 facial hemiatrophy skos:exactMatch DOID:1757 facial hemiatrophy semapv:UnspecifiedMatching MONDO:0007710 facial hemiatrophy skos:exactMatch MEDGEN:8761 semapv:UnspecifiedMatching MONDO:0007710 facial hemiatrophy skos:exactMatch NCIT:C116916 Progressive Hemifacial Atrophy semapv:UnspecifiedMatching MONDO:0007710 facial hemiatrophy skos:exactMatch OMIM:141300 hemifacial atrophy, progressive semapv:UnspecifiedMatching MONDO:0007710 facial hemiatrophy skos:exactMatch Orphanet:1214 Progressive hemifacial atrophy semapv:UnspecifiedMatching MONDO:0007710 facial hemiatrophy skos:exactMatch SCTID:718224004 semapv:UnspecifiedMatching MONDO:0007710 facial hemiatrophy skos:exactMatch UMLS:C0015458 semapv:UnspecifiedMatching MONDO:0007710 facial hemiatrophy skos:exactMatch mesh:D005150 semapv:UnspecifiedMatching MONDO:0007711 Bencze syndrome skos:exactMatch MEDGEN:330655 semapv:UnspecifiedMatching MONDO:0007711 Bencze syndrome skos:exactMatch OMIM:141350 hemifacial hyperplasia with strabismus semapv:UnspecifiedMatching MONDO:0007711 Bencze syndrome skos:exactMatch Orphanet:1241 Bencze syndrome semapv:UnspecifiedMatching MONDO:0007711 Bencze syndrome skos:exactMatch SCTID:733046006 semapv:UnspecifiedMatching MONDO:0007711 Bencze syndrome skos:exactMatch UMLS:C1841640 semapv:UnspecifiedMatching MONDO:0007711 Bencze syndrome skos:exactMatch mesh:C564199 semapv:UnspecifiedMatching MONDO:0007712 oculoauriculovertebral spectrum with radial defects skos:exactMatch MEDGEN:67392 semapv:UnspecifiedMatching MONDO:0007712 oculoauriculovertebral spectrum with radial defects skos:exactMatch OMIM:141400 hemifacial microsomia with radial defects semapv:UnspecifiedMatching MONDO:0007712 oculoauriculovertebral spectrum with radial defects skos:exactMatch Orphanet:2549 Oculoauriculovertebral spectrum with radial defects semapv:UnspecifiedMatching MONDO:0007712 oculoauriculovertebral spectrum with radial defects skos:exactMatch SCTID:726722009 semapv:UnspecifiedMatching MONDO:0007712 oculoauriculovertebral spectrum with radial defects skos:exactMatch UMLS:C0220681 semapv:UnspecifiedMatching MONDO:0007713 clonic hemifacial spasm skos:exactMatch ICD10CM:G51.3 Clonic hemifacial spasm semapv:UnspecifiedMatching MONDO:0007713 clonic hemifacial spasm skos:exactMatch MEDGEN:374760 semapv:UnspecifiedMatching MONDO:0007713 clonic hemifacial spasm skos:exactMatch OMIM:141405 hemifacial spasm, familial semapv:UnspecifiedMatching MONDO:0007713 clonic hemifacial spasm skos:exactMatch Orphanet:221083 Hemifacial spasm semapv:UnspecifiedMatching MONDO:0007713 clonic hemifacial spasm skos:exactMatch UMLS:C1841639 semapv:UnspecifiedMatching MONDO:0007713 clonic hemifacial spasm skos:exactMatch icd11.foundation:353312397 Hemifacial spasm semapv:UnspecifiedMatching MONDO:0007713 clonic hemifacial spasm skos:exactMatch icd11.foundation:64352031 Clonic hemifacial spasm semapv:UnspecifiedMatching MONDO:0007713 clonic hemifacial spasm skos:exactMatch mesh:C564198 semapv:UnspecifiedMatching MONDO:0007715 hemolytic poikilocytic anemia due to reduced ankyrin binding sites skos:exactMatch MEDGEN:330649 semapv:UnspecifiedMatching MONDO:0007715 hemolytic poikilocytic anemia due to reduced ankyrin binding sites skos:exactMatch OMIM:141700 hemolytic poikilocytic anemia due to reduced ankyrin binding sites semapv:UnspecifiedMatching MONDO:0007715 hemolytic poikilocytic anemia due to reduced ankyrin binding sites skos:exactMatch UMLS:C1841622 semapv:UnspecifiedMatching MONDO:0007715 hemolytic poikilocytic anemia due to reduced ankyrin binding sites skos:exactMatch mesh:C564197 semapv:UnspecifiedMatching MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 skos:exactMatch DOID:0110029 alpha thalassemia-intellectual disability syndrome type 1 semapv:UnspecifiedMatching MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 skos:exactMatch MEDGEN:162892 semapv:UnspecifiedMatching MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 skos:exactMatch OMIM:141750 alpha-thalassemia/impaired intellectual development syndrome, deletion type semapv:UnspecifiedMatching MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 skos:exactMatch Orphanet:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 semapv:UnspecifiedMatching MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 skos:exactMatch SCTID:277918006 semapv:UnspecifiedMatching MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 skos:exactMatch UMLS:C0795917 semapv:UnspecifiedMatching MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 skos:exactMatch mesh:C563050 semapv:UnspecifiedMatching MONDO:0007717 hemoglobin--variants for which the chain carrying the mutation 1S unknown or uncertain skos:exactMatch MEDGEN:333610 semapv:UnspecifiedMatching MONDO:0007717 hemoglobin--variants for which the chain carrying the mutation 1S unknown or uncertain skos:exactMatch OMIM:142309 hemoglobin--variants for which the chain carrying the mutation 1s unknown or uncertain semapv:UnspecifiedMatching MONDO:0007717 hemoglobin--variants for which the chain carrying the mutation 1S unknown or uncertain skos:exactMatch UMLS:C1840647 semapv:UnspecifiedMatching MONDO:0007718 hepatic adenomas, familial skos:exactMatch DOID:0111366 familial hepatic adenoma semapv:UnspecifiedMatching MONDO:0007718 hepatic adenomas, familial skos:exactMatch MEDGEN:374515 semapv:UnspecifiedMatching MONDO:0007718 hepatic adenomas, familial skos:exactMatch OMIM:142330 hepatic adenomas, familial semapv:UnspecifiedMatching MONDO:0007718 hepatic adenomas, familial skos:exactMatch UMLS:C1840646 semapv:UnspecifiedMatching MONDO:0007718 hepatic adenomas, familial skos:exactMatch mesh:C564190 semapv:UnspecifiedMatching MONDO:0007719 diaphragmatic hernia 1 skos:exactMatch MEDGEN:327154 semapv:UnspecifiedMatching MONDO:0007719 diaphragmatic hernia 1 skos:exactMatch OMIM:142340 diaphragmatic hernia, congenital semapv:UnspecifiedMatching MONDO:0007719 diaphragmatic hernia 1 skos:exactMatch UMLS:C1840643 semapv:UnspecifiedMatching MONDO:0007720 hernia, double inguinal skos:exactMatch MEDGEN:163567 semapv:UnspecifiedMatching MONDO:0007720 hernia, double inguinal skos:exactMatch OMIM:142350 hernia, double inguinal semapv:UnspecifiedMatching MONDO:0007720 hernia, double inguinal skos:exactMatch UMLS:C0860251 semapv:UnspecifiedMatching MONDO:0007720 hernia, double inguinal skos:exactMatch mesh:C563164 semapv:UnspecifiedMatching MONDO:0007721 hiatus hernia skos:exactMatch DOID:12642 hiatus hernia semapv:UnspecifiedMatching MONDO:0007721 hiatus hernia skos:exactMatch MEDGEN:483347 semapv:UnspecifiedMatching MONDO:0007721 hiatus hernia skos:exactMatch NCIT:C98945 Hiatal Hernia semapv:UnspecifiedMatching MONDO:0007721 hiatus hernia skos:exactMatch OMIM:142400 hernia, hiatus semapv:UnspecifiedMatching MONDO:0007721 hiatus hernia skos:exactMatch SCTID:84089009 semapv:UnspecifiedMatching MONDO:0007721 hiatus hernia skos:exactMatch UMLS:C3489393 semapv:UnspecifiedMatching MONDO:0007721 hiatus hernia skos:exactMatch mesh:D006551 semapv:UnspecifiedMatching MONDO:0007722 heterochromia iridis skos:exactMatch MEDGEN:98395 semapv:UnspecifiedMatching MONDO:0007722 heterochromia iridis skos:exactMatch OMIM:142500 heterochromia iridis semapv:UnspecifiedMatching MONDO:0007722 heterochromia iridis skos:exactMatch UMLS:C0423318 semapv:UnspecifiedMatching MONDO:0007722 heterochromia iridis skos:exactMatch mesh:C538115 semapv:UnspecifiedMatching MONDO:0007723 Hirschsprung disease, susceptibility to, 1 skos:exactMatch MEDGEN:854827 semapv:UnspecifiedMatching MONDO:0007723 Hirschsprung disease, susceptibility to, 1 skos:exactMatch OMIM:142623 hirschsprung disease, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0007723 Hirschsprung disease, susceptibility to, 1 skos:exactMatch UMLS:C3888239 semapv:UnspecifiedMatching MONDO:0007724 hirsutism-skeletal dysplasia-intellectual disability syndrome skos:exactMatch MEDGEN:163202 semapv:UnspecifiedMatching MONDO:0007724 hirsutism-skeletal dysplasia-intellectual disability syndrome skos:exactMatch OMIM:142625 hirsutism, skeletal dysplasia, and impaired intellectual development semapv:UnspecifiedMatching MONDO:0007724 hirsutism-skeletal dysplasia-intellectual disability syndrome skos:exactMatch UMLS:C0795976 semapv:UnspecifiedMatching MONDO:0007724 hirsutism-skeletal dysplasia-intellectual disability syndrome skos:exactMatch mesh:C536705 semapv:UnspecifiedMatching MONDO:0007725 hereditary progressive mucinous histiocytosis skos:exactMatch MEDGEN:326771 semapv:UnspecifiedMatching MONDO:0007725 hereditary progressive mucinous histiocytosis skos:exactMatch OMIM:142630 histiocytosis, progressive mucinous semapv:UnspecifiedMatching MONDO:0007725 hereditary progressive mucinous histiocytosis skos:exactMatch Orphanet:158025 Hereditary progressive mucinous histiocytosis semapv:UnspecifiedMatching MONDO:0007725 hereditary progressive mucinous histiocytosis skos:exactMatch UMLS:C1840586 semapv:UnspecifiedMatching MONDO:0007725 hereditary progressive mucinous histiocytosis skos:exactMatch icd11.foundation:284196883 Hereditary progressive mucinous histiocytosis semapv:UnspecifiedMatching MONDO:0007725 hereditary progressive mucinous histiocytosis skos:exactMatch mesh:C564186 semapv:UnspecifiedMatching MONDO:0007726 hip dysplasia, Beukes type skos:exactMatch DOID:0111367 Beukes hip dysplasia semapv:UnspecifiedMatching MONDO:0007726 hip dysplasia, Beukes type skos:exactMatch MEDGEN:333593 semapv:UnspecifiedMatching MONDO:0007726 hip dysplasia, Beukes type skos:exactMatch OMIM:142669 beukes hip dysplasia semapv:UnspecifiedMatching MONDO:0007726 hip dysplasia, Beukes type skos:exactMatch Orphanet:2114 Hip dysplasia, Beukes type semapv:UnspecifiedMatching MONDO:0007726 hip dysplasia, Beukes type skos:exactMatch SCTID:721148005 semapv:UnspecifiedMatching MONDO:0007726 hip dysplasia, Beukes type skos:exactMatch UMLS:C1840572 semapv:UnspecifiedMatching MONDO:0007726 hip dysplasia, Beukes type skos:exactMatch mesh:C564185 semapv:UnspecifiedMatching MONDO:0007727 TNF receptor 1-associated periodic fever syndrome skos:exactMatch DOID:0090018 TNF receptor–associated periodic syndrome semapv:UnspecifiedMatching MONDO:0007727 TNF receptor 1-associated periodic fever syndrome skos:exactMatch MEDGEN:226899 semapv:UnspecifiedMatching MONDO:0007727 TNF receptor 1-associated periodic fever syndrome skos:exactMatch NCIT:C119051 Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome semapv:UnspecifiedMatching MONDO:0007727 TNF receptor 1-associated periodic fever syndrome skos:exactMatch OMIM:142680 periodic fever, familial, autosomal dominant semapv:UnspecifiedMatching MONDO:0007727 TNF receptor 1-associated periodic fever syndrome skos:exactMatch Orphanet:32960 Tumor necrosis factor receptor 1 associated periodic syndrome semapv:UnspecifiedMatching MONDO:0007727 TNF receptor 1-associated periodic fever syndrome skos:exactMatch SCTID:403833009 semapv:UnspecifiedMatching MONDO:0007727 TNF receptor 1-associated periodic fever syndrome skos:exactMatch UMLS:C1275126 semapv:UnspecifiedMatching MONDO:0007727 TNF receptor 1-associated periodic fever syndrome skos:exactMatch icd11.foundation:1869883509 Tumour necrosis factor receptor 1 associated periodic syndrome semapv:UnspecifiedMatching MONDO:0007727 TNF receptor 1-associated periodic fever syndrome skos:exactMatch mesh:C536657 semapv:UnspecifiedMatching MONDO:0007728 acne inversa, familial, 1 skos:exactMatch MEDGEN:1631104 semapv:UnspecifiedMatching MONDO:0007728 acne inversa, familial, 1 skos:exactMatch OMIM:142690 acne inversa, familial, 1 semapv:UnspecifiedMatching MONDO:0007728 acne inversa, familial, 1 skos:exactMatch UMLS:C4551962 semapv:UnspecifiedMatching MONDO:0007729 developmental dysplasia of the hip 1 skos:exactMatch DOID:0060931 developmental dysplasia of the hip 1 semapv:UnspecifiedMatching MONDO:0007729 developmental dysplasia of the hip 1 skos:exactMatch MEDGEN:266288 semapv:UnspecifiedMatching MONDO:0007729 developmental dysplasia of the hip 1 skos:exactMatch OMIM:142700 developmental dysplasia of the hip 1 semapv:UnspecifiedMatching MONDO:0007729 developmental dysplasia of the hip 1 skos:exactMatch UMLS:C1306065 semapv:UnspecifiedMatching MONDO:0007730 histiocytic dermatoarthritis skos:exactMatch MEDGEN:327131 semapv:UnspecifiedMatching MONDO:0007730 histiocytic dermatoarthritis skos:exactMatch OMIM:142730 histiocytic dermatoarthritis semapv:UnspecifiedMatching MONDO:0007730 histiocytic dermatoarthritis skos:exactMatch UMLS:C1840551 semapv:UnspecifiedMatching MONDO:0007730 histiocytic dermatoarthritis skos:exactMatch mesh:C564183 semapv:UnspecifiedMatching MONDO:0007731 obsolete HLA modifier skos:exactMatch OMIM:142770 hla modifier semapv:UnspecifiedMatching MONDO:0007732 Holt-Oram syndrome skos:exactMatch DOID:0060468 Holt-Oram syndrome semapv:UnspecifiedMatching MONDO:0007732 Holt-Oram syndrome skos:exactMatch MEDGEN:120524 semapv:UnspecifiedMatching MONDO:0007732 Holt-Oram syndrome skos:exactMatch NCIT:C125592 Holt-Oram Syndrome semapv:UnspecifiedMatching MONDO:0007732 Holt-Oram syndrome skos:exactMatch OMIM:142900 holt-oram syndrome semapv:UnspecifiedMatching MONDO:0007732 Holt-Oram syndrome skos:exactMatch Orphanet:392 Holt-Oram syndrome semapv:UnspecifiedMatching MONDO:0007732 Holt-Oram syndrome skos:exactMatch SCTID:19092004 semapv:UnspecifiedMatching MONDO:0007732 Holt-Oram syndrome skos:exactMatch UMLS:C0265264 semapv:UnspecifiedMatching MONDO:0007732 Holt-Oram syndrome skos:exactMatch icd11.foundation:1169240278 Heart-hand syndrome type 1 semapv:UnspecifiedMatching MONDO:0007732 Holt-Oram syndrome skos:exactMatch mesh:C535326 semapv:UnspecifiedMatching MONDO:0007733 holoprosencephaly 3 skos:exactMatch DOID:0110875 holoprosencephaly 3 semapv:UnspecifiedMatching MONDO:0007733 holoprosencephaly 3 skos:exactMatch MEDGEN:327125 semapv:UnspecifiedMatching MONDO:0007733 holoprosencephaly 3 skos:exactMatch OMIM:142945 holoprosencephaly 3 semapv:UnspecifiedMatching MONDO:0007733 holoprosencephaly 3 skos:exactMatch UMLS:C1840529 semapv:UnspecifiedMatching MONDO:0007733 holoprosencephaly 3 skos:exactMatch mesh:C564181 semapv:UnspecifiedMatching MONDO:0007734 holoprosencephaly 4 skos:exactMatch DOID:0110880 holoprosencephaly 4 semapv:UnspecifiedMatching MONDO:0007734 holoprosencephaly 4 skos:exactMatch MEDGEN:374488 semapv:UnspecifiedMatching MONDO:0007734 holoprosencephaly 4 skos:exactMatch NCIT:C75475 Holoprosencephaly Type 4 semapv:UnspecifiedMatching MONDO:0007734 holoprosencephaly 4 skos:exactMatch OMIM:142946 holoprosencephaly 4 semapv:UnspecifiedMatching MONDO:0007734 holoprosencephaly 4 skos:exactMatch UMLS:C1840528 semapv:UnspecifiedMatching MONDO:0007734 holoprosencephaly 4 skos:exactMatch mesh:C564180 semapv:UnspecifiedMatching MONDO:0007735 congenital Horner syndrome skos:exactMatch MEDGEN:327111 semapv:UnspecifiedMatching MONDO:0007735 congenital Horner syndrome skos:exactMatch OMIM:143000 horner syndrome, congenital semapv:UnspecifiedMatching MONDO:0007735 congenital Horner syndrome skos:exactMatch Orphanet:91413 Congenital Horner syndrome semapv:UnspecifiedMatching MONDO:0007735 congenital Horner syndrome skos:exactMatch UMLS:C1840475 semapv:UnspecifiedMatching MONDO:0007735 congenital Horner syndrome skos:exactMatch mesh:C564178 semapv:UnspecifiedMatching MONDO:0007737 humeroradial synostosis skos:exactMatch DOID:0060467 humeroradial synostosis semapv:UnspecifiedMatching MONDO:0007737 humeroradial synostosis skos:exactMatch MEDGEN:418931 semapv:UnspecifiedMatching MONDO:0007737 humeroradial synostosis skos:exactMatch OMIM:143050 humeroradial synostosis semapv:UnspecifiedMatching MONDO:0007737 humeroradial synostosis skos:exactMatch Orphanet:3265 Isolated humero-radial synostosis semapv:UnspecifiedMatching MONDO:0007737 humeroradial synostosis skos:exactMatch SCTID:205329008 semapv:UnspecifiedMatching MONDO:0007737 humeroradial synostosis skos:exactMatch UMLS:C2930865 semapv:UnspecifiedMatching MONDO:0007737 humeroradial synostosis skos:exactMatch icd11.foundation:518723993 Humero-radial synostosis semapv:UnspecifiedMatching MONDO:0007738 spondyloepiphyseal dysplasia with congenital joint dislocations skos:exactMatch DOID:0050813 spondyloepiphyseal dysplasia with congenital joint dislocations semapv:UnspecifiedMatching MONDO:0007738 spondyloepiphyseal dysplasia with congenital joint dislocations skos:exactMatch MEDGEN:373381 semapv:UnspecifiedMatching MONDO:0007738 spondyloepiphyseal dysplasia with congenital joint dislocations skos:exactMatch OMIM:143095 spondyloepiphyseal dysplasia with congenital joint dislocations semapv:UnspecifiedMatching MONDO:0007738 spondyloepiphyseal dysplasia with congenital joint dislocations skos:exactMatch Orphanet:263463 CHST3-related skeletal dysplasia semapv:UnspecifiedMatching MONDO:0007738 spondyloepiphyseal dysplasia with congenital joint dislocations skos:exactMatch SCTID:702400006 semapv:UnspecifiedMatching MONDO:0007738 spondyloepiphyseal dysplasia with congenital joint dislocations skos:exactMatch UMLS:C1837657 semapv:UnspecifiedMatching MONDO:0007738 spondyloepiphyseal dysplasia with congenital joint dislocations skos:exactMatch mesh:C537283 semapv:UnspecifiedMatching MONDO:0007739 Huntington disease skos:exactMatch DOID:12858 Huntington's disease semapv:UnspecifiedMatching MONDO:0007739 Huntington disease skos:exactMatch ICD10CM:G10 Huntington's disease semapv:UnspecifiedMatching MONDO:0007739 Huntington disease skos:exactMatch ICD10WHO:G10 Huntington disease semapv:UnspecifiedMatching MONDO:0007739 Huntington disease skos:exactMatch MEDGEN:5654 semapv:UnspecifiedMatching MONDO:0007739 Huntington disease skos:exactMatch NCIT:C82342 Huntington's Disease semapv:UnspecifiedMatching MONDO:0007739 Huntington disease skos:exactMatch OMIM:143100 huntington disease semapv:UnspecifiedMatching MONDO:0007739 Huntington disease skos:exactMatch Orphanet:399 Huntington disease semapv:UnspecifiedMatching MONDO:0007739 Huntington disease skos:exactMatch SCTID:58756001 semapv:UnspecifiedMatching MONDO:0007739 Huntington disease skos:exactMatch UMLS:C0020179 semapv:UnspecifiedMatching MONDO:0007739 Huntington disease skos:exactMatch icd11.foundation:2132180242 Huntington disease semapv:UnspecifiedMatching MONDO:0007739 Huntington disease skos:exactMatch mesh:D006816 semapv:UnspecifiedMatching MONDO:0007740 Wagner disease skos:exactMatch MEDGEN:326741 semapv:UnspecifiedMatching MONDO:0007740 Wagner disease skos:exactMatch OMIM:143200 wagner vitreoretinopathy semapv:UnspecifiedMatching MONDO:0007740 Wagner disease skos:exactMatch Orphanet:898 Wagner disease semapv:UnspecifiedMatching MONDO:0007740 Wagner disease skos:exactMatch SCTID:232064001 semapv:UnspecifiedMatching MONDO:0007740 Wagner disease skos:exactMatch UMLS:C1840452 semapv:UnspecifiedMatching MONDO:0007740 Wagner disease skos:exactMatch icd11.foundation:780893571 Wagner disease semapv:UnspecifiedMatching MONDO:0007740 Wagner disease skos:exactMatch mesh:C536075 semapv:UnspecifiedMatching MONDO:0007741 congenital hydronephrosis skos:exactMatch ICD10CM:Q62.0 Congenital hydronephrosis semapv:UnspecifiedMatching MONDO:0007741 congenital hydronephrosis skos:exactMatch MEDGEN:78594 semapv:UnspecifiedMatching MONDO:0007741 congenital hydronephrosis skos:exactMatch NCIT:C102979 Congenital Hydronephrosis semapv:UnspecifiedMatching MONDO:0007741 congenital hydronephrosis skos:exactMatch SCTID:16297002 semapv:UnspecifiedMatching MONDO:0007741 congenital hydronephrosis skos:exactMatch UMLS:C0266316 semapv:UnspecifiedMatching MONDO:0007741 congenital hydronephrosis skos:exactMatch icd11.foundation:808343797 Congenital hydronephrosis semapv:UnspecifiedMatching MONDO:0007742 5-hydroxytryptamine oxygenase regulator skos:exactMatch MEDGEN:854659 semapv:UnspecifiedMatching MONDO:0007742 5-hydroxytryptamine oxygenase regulator skos:exactMatch OMIM:143460 5-hydroxytryptamine oxygenase regulator semapv:UnspecifiedMatching MONDO:0007742 5-hydroxytryptamine oxygenase regulator skos:exactMatch UMLS:C3887951 semapv:UnspecifiedMatching MONDO:0007743 attention deficit-hyperactivity disorder skos:exactMatch EFO:0003888 semapv:UnspecifiedMatching MONDO:0007743 attention deficit-hyperactivity disorder skos:exactMatch MEDGEN:220387 semapv:UnspecifiedMatching MONDO:0007743 attention deficit-hyperactivity disorder skos:exactMatch NCIT:C97160 Attention Deficit Hyperactivity Disorder semapv:UnspecifiedMatching MONDO:0007743 attention deficit-hyperactivity disorder skos:exactMatch UMLS:C1263846 semapv:UnspecifiedMatching MONDO:0007744 cholesterol-ester transfer protein deficiency skos:exactMatch DOID:0111369 hyperalphalipoproteinemia 1 semapv:UnspecifiedMatching MONDO:0007744 cholesterol-ester transfer protein deficiency skos:exactMatch MEDGEN:840020 semapv:UnspecifiedMatching MONDO:0007744 cholesterol-ester transfer protein deficiency skos:exactMatch OMIM:143470 hyperalphalipoproteinemia 1 semapv:UnspecifiedMatching MONDO:0007744 cholesterol-ester transfer protein deficiency skos:exactMatch SCTID:15771000119109 semapv:UnspecifiedMatching MONDO:0007744 cholesterol-ester transfer protein deficiency skos:exactMatch UMLS:C3875011 semapv:UnspecifiedMatching MONDO:0007745 Gilbert syndrome skos:exactMatch DOID:2739 Gilbert syndrome semapv:UnspecifiedMatching MONDO:0007745 Gilbert syndrome skos:exactMatch EFO:0005556 semapv:UnspecifiedMatching MONDO:0007745 Gilbert syndrome skos:exactMatch ICD10CM:E80.4 Gilbert syndrome semapv:UnspecifiedMatching MONDO:0007745 Gilbert syndrome skos:exactMatch MEDGEN:4891 semapv:UnspecifiedMatching MONDO:0007745 Gilbert syndrome skos:exactMatch NCIT:C84729 Gilbert Syndrome semapv:UnspecifiedMatching MONDO:0007745 Gilbert syndrome skos:exactMatch OMIM:143500 gilbert syndrome semapv:UnspecifiedMatching MONDO:0007745 Gilbert syndrome skos:exactMatch SCTID:27503000 semapv:UnspecifiedMatching MONDO:0007745 Gilbert syndrome skos:exactMatch UMLS:C0017551 semapv:UnspecifiedMatching MONDO:0007745 Gilbert syndrome skos:exactMatch icd11.foundation:1947520963 Gilbert syndrome semapv:UnspecifiedMatching MONDO:0007745 Gilbert syndrome skos:exactMatch mesh:D005878 semapv:UnspecifiedMatching MONDO:0007746 orthostatic hypotensive disorder, Streeten type skos:exactMatch MEDGEN:327101 semapv:UnspecifiedMatching MONDO:0007746 orthostatic hypotensive disorder, Streeten type skos:exactMatch OMIM:143850 orthostatic hypotensive disorder, streeten type semapv:UnspecifiedMatching MONDO:0007746 orthostatic hypotensive disorder, Streeten type skos:exactMatch UMLS:C1840438 semapv:UnspecifiedMatching MONDO:0007746 orthostatic hypotensive disorder, Streeten type skos:exactMatch mesh:C564174 semapv:UnspecifiedMatching MONDO:0007747 isolated hyperchlorhidrosis skos:exactMatch DOID:0111371 isolated hyperchlorhidrosis semapv:UnspecifiedMatching MONDO:0007747 isolated hyperchlorhidrosis skos:exactMatch MEDGEN:333560 semapv:UnspecifiedMatching MONDO:0007747 isolated hyperchlorhidrosis skos:exactMatch OMIM:143860 hyperchlorhidrosis, isolated semapv:UnspecifiedMatching MONDO:0007747 isolated hyperchlorhidrosis skos:exactMatch Orphanet:542657 Isolated hyperchlorhidrosis semapv:UnspecifiedMatching MONDO:0007747 isolated hyperchlorhidrosis skos:exactMatch SCTID:709413001 semapv:UnspecifiedMatching MONDO:0007747 isolated hyperchlorhidrosis skos:exactMatch UMLS:C1840437 semapv:UnspecifiedMatching MONDO:0007748 hypercalciuria, absorptive, 2 skos:exactMatch MEDGEN:137974 semapv:UnspecifiedMatching MONDO:0007748 hypercalciuria, absorptive, 2 skos:exactMatch OMIM:143870 hypercalciuria, absorptive, 2 semapv:UnspecifiedMatching MONDO:0007748 hypercalciuria, absorptive, 2 skos:exactMatch SCTID:237886009 semapv:UnspecifiedMatching MONDO:0007748 hypercalciuria, absorptive, 2 skos:exactMatch UMLS:C0342639 semapv:UnspecifiedMatching MONDO:0007748 hypercalciuria, absorptive, 2 skos:exactMatch mesh:C562790 semapv:UnspecifiedMatching MONDO:0007750 hypercholesterolemia, familial, 1 skos:exactMatch MEDGEN:152875 semapv:UnspecifiedMatching MONDO:0007750 hypercholesterolemia, familial, 1 skos:exactMatch OMIM:143890 hypercholesterolemia, familial, 1 semapv:UnspecifiedMatching MONDO:0007750 hypercholesterolemia, familial, 1 skos:exactMatch SCTID:398036000 semapv:UnspecifiedMatching MONDO:0007750 hypercholesterolemia, familial, 1 skos:exactMatch UMLS:C0745103 semapv:UnspecifiedMatching MONDO:0007751 hypercholesterolemia, autosomal dominant, type B skos:exactMatch MEDGEN:309962 semapv:UnspecifiedMatching MONDO:0007751 hypercholesterolemia, autosomal dominant, type B skos:exactMatch OMIM:144010 hypercholesterolemia, familial, 2 semapv:UnspecifiedMatching MONDO:0007751 hypercholesterolemia, autosomal dominant, type B skos:exactMatch SCTID:238081000 semapv:UnspecifiedMatching MONDO:0007751 hypercholesterolemia, autosomal dominant, type B skos:exactMatch UMLS:C1704417 semapv:UnspecifiedMatching MONDO:0007752 hyperheparinemia skos:exactMatch MEDGEN:469019 semapv:UnspecifiedMatching MONDO:0007752 hyperheparinemia skos:exactMatch OMIM:144050 hyperheparinemia semapv:UnspecifiedMatching MONDO:0007752 hyperheparinemia skos:exactMatch SCTID:79674009 semapv:UnspecifiedMatching MONDO:0007752 hyperheparinemia skos:exactMatch UMLS:C3203346 semapv:UnspecifiedMatching MONDO:0007752 hyperheparinemia skos:exactMatch mesh:C562723 semapv:UnspecifiedMatching MONDO:0007753 Frey syndrome skos:exactMatch DOID:11599 Frey syndrome semapv:UnspecifiedMatching MONDO:0007753 Frey syndrome skos:exactMatch EFO:1000940 semapv:UnspecifiedMatching MONDO:0007753 Frey syndrome skos:exactMatch MEDGEN:21041 semapv:UnspecifiedMatching MONDO:0007753 Frey syndrome skos:exactMatch OMIM:144100 hyperhidrosis, gustatory semapv:UnspecifiedMatching MONDO:0007753 Frey syndrome skos:exactMatch Orphanet:662240 Frey syndrome semapv:UnspecifiedMatching MONDO:0007753 Frey syndrome skos:exactMatch SCTID:238758008 semapv:UnspecifiedMatching MONDO:0007753 Frey syndrome skos:exactMatch UMLS:C0038994 semapv:UnspecifiedMatching MONDO:0007753 Frey syndrome skos:exactMatch mesh:D013547 semapv:UnspecifiedMatching MONDO:0007754 hyperhidrosis palmaris ET plantaris skos:exactMatch MEDGEN:224808 semapv:UnspecifiedMatching MONDO:0007754 hyperhidrosis palmaris ET plantaris skos:exactMatch OMIM:144110 hyperhidrosis palmaris et plantaris semapv:UnspecifiedMatching MONDO:0007754 hyperhidrosis palmaris ET plantaris skos:exactMatch UMLS:C1274743 semapv:UnspecifiedMatching MONDO:0007754 hyperhidrosis palmaris ET plantaris skos:exactMatch mesh:C563185 semapv:UnspecifiedMatching MONDO:0007755 hyperimmunoglobulin G1(A1) syndrome skos:exactMatch MEDGEN:374465 semapv:UnspecifiedMatching MONDO:0007755 hyperimmunoglobulin G1(A1) syndrome skos:exactMatch OMIM:144120 hyperimmunoglobulin g1(a1) syndrome semapv:UnspecifiedMatching MONDO:0007755 hyperimmunoglobulin G1(A1) syndrome skos:exactMatch UMLS:C1840429 semapv:UnspecifiedMatching MONDO:0007755 hyperimmunoglobulin G1(A1) syndrome skos:exactMatch mesh:C564173 semapv:UnspecifiedMatching MONDO:0007756 hyperkeratosis lenticularis perstans skos:exactMatch MEDGEN:120477 semapv:UnspecifiedMatching MONDO:0007756 hyperkeratosis lenticularis perstans skos:exactMatch OMIM:144150 hyperkeratosis lenticularis perstans semapv:UnspecifiedMatching MONDO:0007756 hyperkeratosis lenticularis perstans skos:exactMatch Orphanet:409 Hyperkeratosis lenticularis perstans semapv:UnspecifiedMatching MONDO:0007756 hyperkeratosis lenticularis perstans skos:exactMatch SCTID:28488007 semapv:UnspecifiedMatching MONDO:0007756 hyperkeratosis lenticularis perstans skos:exactMatch UMLS:C0263420 semapv:UnspecifiedMatching MONDO:0007756 hyperkeratosis lenticularis perstans skos:exactMatch mesh:C538377 semapv:UnspecifiedMatching MONDO:0007757 hyperkeratosis-hyperpigmentation syndrome skos:exactMatch MEDGEN:326735 semapv:UnspecifiedMatching MONDO:0007757 hyperkeratosis-hyperpigmentation syndrome skos:exactMatch OMIM:144190 hyperkeratosis-hyperpigmentation syndrome semapv:UnspecifiedMatching MONDO:0007757 hyperkeratosis-hyperpigmentation syndrome skos:exactMatch Orphanet:1336 Hyperkeratosis-hyperpigmentation syndrome semapv:UnspecifiedMatching MONDO:0007757 hyperkeratosis-hyperpigmentation syndrome skos:exactMatch UMLS:C1840428 semapv:UnspecifiedMatching MONDO:0007757 hyperkeratosis-hyperpigmentation syndrome skos:exactMatch mesh:C564172 semapv:UnspecifiedMatching MONDO:0007758 epidermolytic palmoplantar keratoderma, 1 skos:exactMatch DOID:0070552 epidermolytic palmoplantar keratoderma 1 semapv:UnspecifiedMatching MONDO:0007758 epidermolytic palmoplantar keratoderma, 1 skos:exactMatch NCIT:C84693 Epidermolytic Palmoplantar Keratoderma semapv:UnspecifiedMatching MONDO:0007758 epidermolytic palmoplantar keratoderma, 1 skos:exactMatch OMIM:144200 palmoplantar keratoderma, epidermolytic, 1 semapv:UnspecifiedMatching MONDO:0007758 epidermolytic palmoplantar keratoderma, 1 skos:exactMatch Orphanet:2199 Epidermolytic palmoplantar keratoderma semapv:UnspecifiedMatching MONDO:0007758 epidermolytic palmoplantar keratoderma, 1 skos:exactMatch SCTID:399955009 semapv:UnspecifiedMatching MONDO:0007759 hyperlipidemia, familial combined, LPL related skos:exactMatch MEDGEN:6965 semapv:UnspecifiedMatching MONDO:0007759 hyperlipidemia, familial combined, LPL related skos:exactMatch OMIM:144250 hyperlipidemia, familial combined, 3 semapv:UnspecifiedMatching MONDO:0007759 hyperlipidemia, familial combined, LPL related skos:exactMatch UMLS:C0020474 semapv:UnspecifiedMatching MONDO:0007760 hyperlipoproteinemia, type II, and deafness skos:exactMatch MEDGEN:326732 semapv:UnspecifiedMatching MONDO:0007760 hyperlipoproteinemia, type II, and deafness skos:exactMatch OMIM:144300 hyperlipoproteinemia, type ii, and deafness semapv:UnspecifiedMatching MONDO:0007760 hyperlipoproteinemia, type II, and deafness skos:exactMatch UMLS:C1840425 semapv:UnspecifiedMatching MONDO:0007760 hyperlipoproteinemia, type II, and deafness skos:exactMatch mesh:C564170 semapv:UnspecifiedMatching MONDO:0007761 obsolete hyperlipoproteinemia type IV skos:exactMatch DOID:1172 hyperlipoproteinemia type IV semapv:UnspecifiedMatching MONDO:0007761 obsolete hyperlipoproteinemia type IV skos:exactMatch OMIM:144600 hyperlipoproteinemia, type 4 semapv:UnspecifiedMatching MONDO:0007761 obsolete hyperlipoproteinemia type IV skos:exactMatch Orphanet:413 NON RARE IN EUROPE: Hyperlipoproteinemia type 4 semapv:UnspecifiedMatching MONDO:0007761 obsolete hyperlipoproteinemia type IV skos:exactMatch SCTID:238085009 semapv:UnspecifiedMatching MONDO:0007761 obsolete hyperlipoproteinemia type IV skos:exactMatch mesh:D006953 semapv:UnspecifiedMatching MONDO:0007762 hyperlipoproteinemia type V skos:exactMatch DOID:0111421 familial apolipoprotein A5 deficiency semapv:UnspecifiedMatching MONDO:0007762 hyperlipoproteinemia type V skos:exactMatch DOID:1171 hyperlipoproteinemia type V semapv:UnspecifiedMatching MONDO:0007762 hyperlipoproteinemia type V skos:exactMatch MEDGEN:5693 semapv:UnspecifiedMatching MONDO:0007762 hyperlipoproteinemia type V skos:exactMatch OMIM:144650 hyperlipoproteinemia, type 5 semapv:UnspecifiedMatching MONDO:0007762 hyperlipoproteinemia type V skos:exactMatch Orphanet:530849 Familial apolipoprotein A5 deficiency semapv:UnspecifiedMatching MONDO:0007762 hyperlipoproteinemia type V skos:exactMatch SCTID:34349009 semapv:UnspecifiedMatching MONDO:0007762 hyperlipoproteinemia type V skos:exactMatch UMLS:C0020481 semapv:UnspecifiedMatching MONDO:0007762 hyperlipoproteinemia type V skos:exactMatch mesh:D006954 semapv:UnspecifiedMatching MONDO:0007763 nonpapillary renal cell carcinoma skos:exactMatch DOID:0050387 nonpapillary renal cell carcinoma semapv:UnspecifiedMatching MONDO:0007763 nonpapillary renal cell carcinoma skos:exactMatch OMIM:144700 renal cell carcinoma, nonpapillary semapv:UnspecifiedMatching MONDO:0007764 autosomal dominant osteosclerosis, Worth type skos:exactMatch DOID:0080037 Worth syndrome semapv:UnspecifiedMatching MONDO:0007764 autosomal dominant osteosclerosis, Worth type skos:exactMatch MEDGEN:140932 semapv:UnspecifiedMatching MONDO:0007764 autosomal dominant osteosclerosis, Worth type skos:exactMatch OMIM:144750 endosteal hyperostosis, autosomal dominant semapv:UnspecifiedMatching MONDO:0007764 autosomal dominant osteosclerosis, Worth type skos:exactMatch Orphanet:2790 Endosteal hyperostosis, Worth type semapv:UnspecifiedMatching MONDO:0007764 autosomal dominant osteosclerosis, Worth type skos:exactMatch SCTID:254131007 semapv:UnspecifiedMatching MONDO:0007764 autosomal dominant osteosclerosis, Worth type skos:exactMatch UMLS:C0432273 semapv:UnspecifiedMatching MONDO:0007764 autosomal dominant osteosclerosis, Worth type skos:exactMatch icd11.foundation:1038854228 Autosomal dominant osteosclerosis, Worth type semapv:UnspecifiedMatching MONDO:0007765 hyperostosis cranialis interna skos:exactMatch MEDGEN:327093 semapv:UnspecifiedMatching MONDO:0007765 hyperostosis cranialis interna skos:exactMatch OMIM:144755 hyperostosis cranialis interna semapv:UnspecifiedMatching MONDO:0007765 hyperostosis cranialis interna skos:exactMatch Orphanet:443098 Hyperostosis cranialis interna semapv:UnspecifiedMatching MONDO:0007765 hyperostosis cranialis interna skos:exactMatch UMLS:C1840404 semapv:UnspecifiedMatching MONDO:0007765 hyperostosis cranialis interna skos:exactMatch mesh:C564168 semapv:UnspecifiedMatching MONDO:0007766 Morgagni-Stewart-Morel syndrome skos:exactMatch MEDGEN:9367 semapv:UnspecifiedMatching MONDO:0007766 Morgagni-Stewart-Morel syndrome skos:exactMatch NCIT:C84772 Hyperostosis Frontalis Interna semapv:UnspecifiedMatching MONDO:0007766 Morgagni-Stewart-Morel syndrome skos:exactMatch OMIM:144800 hyperostosis frontalis interna semapv:UnspecifiedMatching MONDO:0007766 Morgagni-Stewart-Morel syndrome skos:exactMatch Orphanet:77296 Morgagni-Stewart-Morel syndrome semapv:UnspecifiedMatching MONDO:0007766 Morgagni-Stewart-Morel syndrome skos:exactMatch SCTID:82054006 semapv:UnspecifiedMatching MONDO:0007766 Morgagni-Stewart-Morel syndrome skos:exactMatch UMLS:C0020494 semapv:UnspecifiedMatching MONDO:0007766 Morgagni-Stewart-Morel syndrome skos:exactMatch mesh:D006957 semapv:UnspecifiedMatching MONDO:0007767 hyperparathyroidism 1 skos:exactMatch MEDGEN:333554 semapv:UnspecifiedMatching MONDO:0007767 hyperparathyroidism 1 skos:exactMatch OMIM:145000 hyperparathyroidism 1 semapv:UnspecifiedMatching MONDO:0007767 hyperparathyroidism 1 skos:exactMatch UMLS:C1840402 semapv:UnspecifiedMatching MONDO:0007767 hyperparathyroidism 1 skos:exactMatch mesh:C564166 semapv:UnspecifiedMatching MONDO:0007768 hyperparathyroidism 2 with jaw tumors skos:exactMatch MEDGEN:310065 semapv:UnspecifiedMatching MONDO:0007768 hyperparathyroidism 2 with jaw tumors skos:exactMatch NCIT:C48287 Hyperparathyroidism-Jaw Tumor Syndrome semapv:UnspecifiedMatching MONDO:0007768 hyperparathyroidism 2 with jaw tumors skos:exactMatch OMIM:145001 hyperparathyroidism 2 with jaw tumors semapv:UnspecifiedMatching MONDO:0007768 hyperparathyroidism 2 with jaw tumors skos:exactMatch Orphanet:99880 Hyperparathyroidism-jaw tumor syndrome semapv:UnspecifiedMatching MONDO:0007768 hyperparathyroidism 2 with jaw tumors skos:exactMatch SCTID:702378002 semapv:UnspecifiedMatching MONDO:0007768 hyperparathyroidism 2 with jaw tumors skos:exactMatch UMLS:C1704981 semapv:UnspecifiedMatching MONDO:0007769 hyperpigmentation of eyelid skos:exactMatch DOID:10122 hyperpigmentation of eyelid semapv:UnspecifiedMatching MONDO:0007769 hyperpigmentation of eyelid skos:exactMatch MEDGEN:56358 semapv:UnspecifiedMatching MONDO:0007769 hyperpigmentation of eyelid skos:exactMatch OMIM:145100 hyperpigmentation of eyelids semapv:UnspecifiedMatching MONDO:0007769 hyperpigmentation of eyelid skos:exactMatch SCTID:41115008 semapv:UnspecifiedMatching MONDO:0007769 hyperpigmentation of eyelid skos:exactMatch UMLS:C0155211 semapv:UnspecifiedMatching MONDO:0007769 hyperpigmentation of eyelid skos:exactMatch mesh:C562400 semapv:UnspecifiedMatching MONDO:0007770 hyperpigmentation of Fuldauer and Kuijpers skos:exactMatch MEDGEN:327090 semapv:UnspecifiedMatching MONDO:0007770 hyperpigmentation of Fuldauer and Kuijpers skos:exactMatch OMIM:145200 hyperpigmentation of fuldauer and kuijpers semapv:UnspecifiedMatching MONDO:0007770 hyperpigmentation of Fuldauer and Kuijpers skos:exactMatch UMLS:C1840393 semapv:UnspecifiedMatching MONDO:0007770 hyperpigmentation of Fuldauer and Kuijpers skos:exactMatch mesh:C564164 semapv:UnspecifiedMatching MONDO:0007771 hyperpigmentation with or without hypopigmentation, familial progressive skos:exactMatch DOID:0111373 familial progressive hyperpigmentation with or without hypopigmentation semapv:UnspecifiedMatching MONDO:0007771 hyperpigmentation with or without hypopigmentation, familial progressive skos:exactMatch MEDGEN:333550 semapv:UnspecifiedMatching MONDO:0007771 hyperpigmentation with or without hypopigmentation, familial progressive skos:exactMatch OMIM:145250 hyperpigmentation with or without hypopigmentation, familial progressive semapv:UnspecifiedMatching MONDO:0007771 hyperpigmentation with or without hypopigmentation, familial progressive skos:exactMatch UMLS:C1840392 semapv:UnspecifiedMatching MONDO:0007772 pseudohypoaldosteronism type 2A skos:exactMatch MEDGEN:327088 semapv:UnspecifiedMatching MONDO:0007772 pseudohypoaldosteronism type 2A skos:exactMatch OMIM:145260 pseudohypoaldosteronism, type 2a semapv:UnspecifiedMatching MONDO:0007772 pseudohypoaldosteronism type 2A skos:exactMatch Orphanet:88938 Pseudohypoaldosteronism type 2A semapv:UnspecifiedMatching MONDO:0007772 pseudohypoaldosteronism type 2A skos:exactMatch SCTID:703254001 semapv:UnspecifiedMatching MONDO:0007772 pseudohypoaldosteronism type 2A skos:exactMatch UMLS:C1840389 semapv:UnspecifiedMatching MONDO:0007772 pseudohypoaldosteronism type 2A skos:exactMatch icd11.foundation:646091849 Pseudohypoaldosteronism type 2A semapv:UnspecifiedMatching MONDO:0007773 hyperproglucagonemia skos:exactMatch MEDGEN:326726 semapv:UnspecifiedMatching MONDO:0007773 hyperproglucagonemia skos:exactMatch OMIM:145270 hyperproglucagonemia semapv:UnspecifiedMatching MONDO:0007773 hyperproglucagonemia skos:exactMatch UMLS:C1840388 semapv:UnspecifiedMatching MONDO:0007773 hyperproglucagonemia skos:exactMatch mesh:C564159 semapv:UnspecifiedMatching MONDO:0007774 hyperreflexia skos:exactMatch MEDGEN:57738 semapv:UnspecifiedMatching MONDO:0007774 hyperreflexia skos:exactMatch OMIM:145290 hyperreflexia semapv:UnspecifiedMatching MONDO:0007774 hyperreflexia skos:exactMatch UMLS:C0151889 semapv:UnspecifiedMatching MONDO:0007774 hyperreflexia skos:exactMatch icd11.foundation:514864448 Hyperreflexia semapv:UnspecifiedMatching MONDO:0007774 hyperreflexia skos:exactMatch mesh:D012021 semapv:UnspecifiedMatching MONDO:0007775 hypersecretion of adrenal androgens, familial skos:exactMatch MEDGEN:326725 semapv:UnspecifiedMatching MONDO:0007775 hypersecretion of adrenal androgens, familial skos:exactMatch OMIM:145295 hypersecretion of adrenal androgens, familial semapv:UnspecifiedMatching MONDO:0007775 hypersecretion of adrenal androgens, familial skos:exactMatch UMLS:C1840387 semapv:UnspecifiedMatching MONDO:0007775 hypersecretion of adrenal androgens, familial skos:exactMatch mesh:C536845 semapv:UnspecifiedMatching MONDO:0007776 hypersensitivity pneumonitis, familial skos:exactMatch MEDGEN:326724 semapv:UnspecifiedMatching MONDO:0007776 hypersensitivity pneumonitis, familial skos:exactMatch OMIM:145300 hypersensitivity pneumonitis, familial semapv:UnspecifiedMatching MONDO:0007776 hypersensitivity pneumonitis, familial skos:exactMatch UMLS:C1840386 semapv:UnspecifiedMatching MONDO:0007776 hypersensitivity pneumonitis, familial skos:exactMatch mesh:C536846 semapv:UnspecifiedMatching MONDO:0007777 hypotaurinemic retinal degeneration and cardiomyopathy skos:exactMatch MEDGEN:1779589 semapv:UnspecifiedMatching MONDO:0007777 hypotaurinemic retinal degeneration and cardiomyopathy skos:exactMatch OMIM:145350 hypotaurinemic retinal degeneration and cardiomyopathy semapv:UnspecifiedMatching MONDO:0007777 hypotaurinemic retinal degeneration and cardiomyopathy skos:exactMatch UMLS:C5542181 semapv:UnspecifiedMatching MONDO:0007777 hypotaurinemic retinal degeneration and cardiomyopathy skos:exactMatch mesh:C564157 semapv:UnspecifiedMatching MONDO:0007778 obsolete hypertelorism skos:exactMatch NCIT:C34715 Hypertelorism semapv:UnspecifiedMatching MONDO:0007778 obsolete hypertelorism skos:exactMatch OMIM:145400 hypertelorism semapv:UnspecifiedMatching MONDO:0007778 obsolete hypertelorism skos:exactMatch SCTID:22006008 semapv:UnspecifiedMatching MONDO:0007778 obsolete hypertelorism skos:exactMatch mesh:D006972 semapv:UnspecifiedMatching MONDO:0007779 obsolete autosomal dominant Opitz G/BBB syndrome skos:exactMatch OMIM:145410 semapv:UnspecifiedMatching MONDO:0007779 obsolete autosomal dominant Opitz G/BBB syndrome skos:exactMatch Orphanet:306588 OBSOLETE: Autosomal dominant Opitz G/BBB syndrome semapv:UnspecifiedMatching MONDO:0007781 essential hypertension, genetic skos:exactMatch OMIM:145500 hypertension, essential semapv:UnspecifiedMatching MONDO:0007782 hyperthermia, cutaneous, with headaches and nausea skos:exactMatch MEDGEN:374453 semapv:UnspecifiedMatching MONDO:0007782 hyperthermia, cutaneous, with headaches and nausea skos:exactMatch OMIM:145590 hyperthermia, cutaneous, with headaches and nausea semapv:UnspecifiedMatching MONDO:0007782 hyperthermia, cutaneous, with headaches and nausea skos:exactMatch UMLS:C1840373 semapv:UnspecifiedMatching MONDO:0007782 hyperthermia, cutaneous, with headaches and nausea skos:exactMatch mesh:C564156 semapv:UnspecifiedMatching MONDO:0007783 malignant hyperthermia, susceptibility to, 1 skos:exactMatch DOID:0080990 King Denborough syndrome semapv:UnspecifiedMatching MONDO:0007783 malignant hyperthermia, susceptibility to, 1 skos:exactMatch MEDGEN:443948 semapv:UnspecifiedMatching MONDO:0007783 malignant hyperthermia, susceptibility to, 1 skos:exactMatch OMIM:145600 malignant hyperthermia, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0007783 malignant hyperthermia, susceptibility to, 1 skos:exactMatch UMLS:C2930980 semapv:UnspecifiedMatching MONDO:0007783 malignant hyperthermia, susceptibility to, 1 skos:exactMatch mesh:C535694 semapv:UnspecifiedMatching MONDO:0007784 selective pituitary resistance to thyroid hormone skos:exactMatch DOID:0111374 selective pituitary thyroid hormone resistance semapv:UnspecifiedMatching MONDO:0007784 selective pituitary resistance to thyroid hormone skos:exactMatch MEDGEN:333543 semapv:UnspecifiedMatching MONDO:0007784 selective pituitary resistance to thyroid hormone skos:exactMatch OMIM:145650 thyroid hormone resistance, selective pituitary semapv:UnspecifiedMatching MONDO:0007784 selective pituitary resistance to thyroid hormone skos:exactMatch UMLS:C1840364 semapv:UnspecifiedMatching MONDO:0007784 selective pituitary resistance to thyroid hormone skos:exactMatch icd11.foundation:482664523 Selective pituitary resistance to thyroid hormone semapv:UnspecifiedMatching MONDO:0007784 selective pituitary resistance to thyroid hormone skos:exactMatch mesh:C564154 semapv:UnspecifiedMatching MONDO:0007785 hyperthyroxinemia, dystransthyretinemic skos:exactMatch DOID:0080219 dystransthyretinemic hyperthyroxinemia semapv:UnspecifiedMatching MONDO:0007785 hyperthyroxinemia, dystransthyretinemic skos:exactMatch MEDGEN:442573 semapv:UnspecifiedMatching MONDO:0007785 hyperthyroxinemia, dystransthyretinemic skos:exactMatch OMIM:145680 hyperthyroxinemia, dystransthyretinemic semapv:UnspecifiedMatching MONDO:0007785 hyperthyroxinemia, dystransthyretinemic skos:exactMatch UMLS:C2750824 semapv:UnspecifiedMatching MONDO:0007785 hyperthyroxinemia, dystransthyretinemic skos:exactMatch mesh:C567719 semapv:UnspecifiedMatching MONDO:0007787 Ambras type hypertrichosis universalis congenita skos:exactMatch DOID:0111060 Ambras type hypertrichosis universalis congenita semapv:UnspecifiedMatching MONDO:0007787 Ambras type hypertrichosis universalis congenita skos:exactMatch MEDGEN:333542 semapv:UnspecifiedMatching MONDO:0007787 Ambras type hypertrichosis universalis congenita skos:exactMatch OMIM:145701 hypertrichosis universalis congenita, ambras type semapv:UnspecifiedMatching MONDO:0007787 Ambras type hypertrichosis universalis congenita skos:exactMatch Orphanet:1023 Congenital generalized hypertrichosis, Ambras type semapv:UnspecifiedMatching MONDO:0007787 Ambras type hypertrichosis universalis congenita skos:exactMatch UMLS:C1840362 semapv:UnspecifiedMatching MONDO:0007788 hypertriglyceridemia 1 skos:exactMatch MEDGEN:1787149 semapv:UnspecifiedMatching MONDO:0007788 hypertriglyceridemia 1 skos:exactMatch OMIM:145750 hypertriglyceridemia 1 semapv:UnspecifiedMatching MONDO:0007788 hypertriglyceridemia 1 skos:exactMatch SCTID:34528009 semapv:UnspecifiedMatching MONDO:0007788 hypertriglyceridemia 1 skos:exactMatch UMLS:C5444012 semapv:UnspecifiedMatching MONDO:0007789 hypertrophia musculorum vera skos:exactMatch MEDGEN:374451 semapv:UnspecifiedMatching MONDO:0007789 hypertrophia musculorum vera skos:exactMatch OMIM:145800 hypertrophia musculorum vera semapv:UnspecifiedMatching MONDO:0007789 hypertrophia musculorum vera skos:exactMatch UMLS:C1840361 semapv:UnspecifiedMatching MONDO:0007789 hypertrophia musculorum vera skos:exactMatch mesh:C564152 semapv:UnspecifiedMatching MONDO:0007790 Charcot-Marie-Tooth disease type 3 skos:exactMatch DOID:0050540 Charcot-Marie-Tooth disease type 3 semapv:UnspecifiedMatching MONDO:0007790 Charcot-Marie-Tooth disease type 3 skos:exactMatch MEDGEN:3710 semapv:UnspecifiedMatching MONDO:0007790 Charcot-Marie-Tooth disease type 3 skos:exactMatch NCIT:C133087 Charcot-Marie-Tooth Disease, Type 3 semapv:UnspecifiedMatching MONDO:0007790 Charcot-Marie-Tooth disease type 3 skos:exactMatch OMIM:145900 hypertrophic neuropathy of dejerine-sottas semapv:UnspecifiedMatching MONDO:0007790 Charcot-Marie-Tooth disease type 3 skos:exactMatch Orphanet:64748 Dejerine-Sottas syndrome semapv:UnspecifiedMatching MONDO:0007790 Charcot-Marie-Tooth disease type 3 skos:exactMatch SCTID:111499002 semapv:UnspecifiedMatching MONDO:0007790 Charcot-Marie-Tooth disease type 3 skos:exactMatch UMLS:C0011195 semapv:UnspecifiedMatching MONDO:0007791 familial hypocalciuric hypercalcemia 1 skos:exactMatch DOID:0060700 familial hypocalciuric hypercalcemia 1 semapv:UnspecifiedMatching MONDO:0007791 familial hypocalciuric hypercalcemia 1 skos:exactMatch MEDGEN:137973 semapv:UnspecifiedMatching MONDO:0007791 familial hypocalciuric hypercalcemia 1 skos:exactMatch OMIM:145980 hypocalciuric hypercalcemia, familial, type 1 semapv:UnspecifiedMatching MONDO:0007791 familial hypocalciuric hypercalcemia 1 skos:exactMatch Orphanet:93372 Familial hypocalciuric hypercalcemia type 1 semapv:UnspecifiedMatching MONDO:0007791 familial hypocalciuric hypercalcemia 1 skos:exactMatch SCTID:704166007 semapv:UnspecifiedMatching MONDO:0007791 familial hypocalciuric hypercalcemia 1 skos:exactMatch UMLS:C0342637 semapv:UnspecifiedMatching MONDO:0007791 familial hypocalciuric hypercalcemia 1 skos:exactMatch mesh:C537145 semapv:UnspecifiedMatching MONDO:0007792 familial hypocalciuric hypercalcemia 2 skos:exactMatch DOID:0060701 familial hypocalciuric hypercalcemia 2 semapv:UnspecifiedMatching MONDO:0007792 familial hypocalciuric hypercalcemia 2 skos:exactMatch MEDGEN:374447 semapv:UnspecifiedMatching MONDO:0007792 familial hypocalciuric hypercalcemia 2 skos:exactMatch OMIM:145981 hypocalciuric hypercalcemia, familial, type 2 semapv:UnspecifiedMatching MONDO:0007792 familial hypocalciuric hypercalcemia 2 skos:exactMatch Orphanet:101049 Familial hypocalciuric hypercalcemia type 2 semapv:UnspecifiedMatching MONDO:0007792 familial hypocalciuric hypercalcemia 2 skos:exactMatch UMLS:C1840347 semapv:UnspecifiedMatching MONDO:0007792 familial hypocalciuric hypercalcemia 2 skos:exactMatch mesh:C537146 semapv:UnspecifiedMatching MONDO:0007793 hypochondroplasia skos:exactMatch DOID:0080041 hypochondroplasia semapv:UnspecifiedMatching MONDO:0007793 hypochondroplasia skos:exactMatch MEDGEN:98376 semapv:UnspecifiedMatching MONDO:0007793 hypochondroplasia skos:exactMatch NCIT:C118697 Hypochondroplasia semapv:UnspecifiedMatching MONDO:0007793 hypochondroplasia skos:exactMatch OMIM:146000 hypochondroplasia semapv:UnspecifiedMatching MONDO:0007793 hypochondroplasia skos:exactMatch Orphanet:429 Hypochondroplasia semapv:UnspecifiedMatching MONDO:0007793 hypochondroplasia skos:exactMatch SCTID:205468002 semapv:UnspecifiedMatching MONDO:0007793 hypochondroplasia skos:exactMatch UMLS:C0410529 semapv:UnspecifiedMatching MONDO:0007793 hypochondroplasia skos:exactMatch icd11.foundation:1930265486 Hypochondroplasia semapv:UnspecifiedMatching MONDO:0007793 hypochondroplasia skos:exactMatch mesh:C562937 semapv:UnspecifiedMatching MONDO:0007794 hypogonadotropic hypogonadism 7 with or without anosmia skos:exactMatch DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia semapv:UnspecifiedMatching MONDO:0007794 hypogonadotropic hypogonadism 7 with or without anosmia skos:exactMatch MEDGEN:87440 semapv:UnspecifiedMatching MONDO:0007794 hypogonadotropic hypogonadism 7 with or without anosmia skos:exactMatch OMIM:146110 hypogonadotropic hypogonadism 7 with or without anosmia semapv:UnspecifiedMatching MONDO:0007794 hypogonadotropic hypogonadism 7 with or without anosmia skos:exactMatch SCTID:123953004 semapv:UnspecifiedMatching MONDO:0007794 hypogonadotropic hypogonadism 7 with or without anosmia skos:exactMatch UMLS:C0342384 semapv:UnspecifiedMatching MONDO:0007794 hypogonadotropic hypogonadism 7 with or without anosmia skos:exactMatch mesh:C562785 semapv:UnspecifiedMatching MONDO:0007795 mullerian duct anomalies-limb anomalies syndrome skos:exactMatch MEDGEN:327078 semapv:UnspecifiedMatching MONDO:0007795 mullerian duct anomalies-limb anomalies syndrome skos:exactMatch OMIM:146160 hypomelia with mullerian duct anomalies semapv:UnspecifiedMatching MONDO:0007795 mullerian duct anomalies-limb anomalies syndrome skos:exactMatch Orphanet:2491 Müllerian duct anomalies-limb anomalies syndrome semapv:UnspecifiedMatching MONDO:0007795 mullerian duct anomalies-limb anomalies syndrome skos:exactMatch UMLS:C1840335 semapv:UnspecifiedMatching MONDO:0007795 mullerian duct anomalies-limb anomalies syndrome skos:exactMatch mesh:C537155 semapv:UnspecifiedMatching MONDO:0007796 hypoparathyroidism, familial isolated 1 skos:exactMatch DOID:0061150 familial isolated hypoparathyroidism 1 semapv:UnspecifiedMatching MONDO:0007796 hypoparathyroidism, familial isolated 1 skos:exactMatch MEDGEN:1713884 semapv:UnspecifiedMatching MONDO:0007796 hypoparathyroidism, familial isolated 1 skos:exactMatch OMIM:146200 hypoparathyroidism, familial isolated, 1 semapv:UnspecifiedMatching MONDO:0007796 hypoparathyroidism, familial isolated 1 skos:exactMatch SCTID:237657009 semapv:UnspecifiedMatching MONDO:0007796 hypoparathyroidism, familial isolated 1 skos:exactMatch UMLS:C5241444 semapv:UnspecifiedMatching MONDO:0007797 hypoparathyroidism-deafness-renal disease syndrome skos:exactMatch DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome semapv:UnspecifiedMatching MONDO:0007797 hypoparathyroidism-deafness-renal disease syndrome skos:exactMatch MEDGEN:374443 semapv:UnspecifiedMatching MONDO:0007797 hypoparathyroidism-deafness-renal disease syndrome skos:exactMatch NCIT:C130983 Barakat Syndrome semapv:UnspecifiedMatching MONDO:0007797 hypoparathyroidism-deafness-renal disease syndrome skos:exactMatch OMIM:146255 hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome semapv:UnspecifiedMatching MONDO:0007797 hypoparathyroidism-deafness-renal disease syndrome skos:exactMatch Orphanet:2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome semapv:UnspecifiedMatching MONDO:0007797 hypoparathyroidism-deafness-renal disease syndrome skos:exactMatch SCTID:724282009 semapv:UnspecifiedMatching MONDO:0007797 hypoparathyroidism-deafness-renal disease syndrome skos:exactMatch UMLS:C1840333 semapv:UnspecifiedMatching MONDO:0007797 hypoparathyroidism-deafness-renal disease syndrome skos:exactMatch mesh:C537907 semapv:UnspecifiedMatching MONDO:0007799 hypophosphatemic bone disease skos:exactMatch MEDGEN:333534 semapv:UnspecifiedMatching MONDO:0007799 hypophosphatemic bone disease skos:exactMatch OMIM:146350 hypophosphatemic bone disease semapv:UnspecifiedMatching MONDO:0007799 hypophosphatemic bone disease skos:exactMatch UMLS:C1840321 semapv:UnspecifiedMatching MONDO:0007799 hypophosphatemic bone disease skos:exactMatch mesh:C564145 semapv:UnspecifiedMatching MONDO:0007800 chromosome 18p deletion syndrome skos:exactMatch DOID:0060406 chromosome 18p deletion syndrome semapv:UnspecifiedMatching MONDO:0007800 chromosome 18p deletion syndrome skos:exactMatch MEDGEN:96604 semapv:UnspecifiedMatching MONDO:0007800 chromosome 18p deletion syndrome skos:exactMatch NCIT:C84521 Deletion 18p Syndrome semapv:UnspecifiedMatching MONDO:0007800 chromosome 18p deletion syndrome skos:exactMatch OMIM:146390 chromosome 18p deletion syndrome semapv:UnspecifiedMatching MONDO:0007800 chromosome 18p deletion syndrome skos:exactMatch Orphanet:1598 Monosomy 18p syndrome semapv:UnspecifiedMatching MONDO:0007800 chromosome 18p deletion syndrome skos:exactMatch Orphanet:261974 Partial deletion of the short arm of chromosome 18 syndrome semapv:UnspecifiedMatching MONDO:0007800 chromosome 18p deletion syndrome skos:exactMatch SCTID:270890001 semapv:UnspecifiedMatching MONDO:0007800 chromosome 18p deletion syndrome skos:exactMatch UMLS:C0432442 semapv:UnspecifiedMatching MONDO:0007800 chromosome 18p deletion syndrome skos:exactMatch icd11.foundation:121037615 Deletions of the short arm of chromosome 18 semapv:UnspecifiedMatching MONDO:0007800 chromosome 18p deletion syndrome skos:exactMatch mesh:C538309 semapv:UnspecifiedMatching MONDO:0007801 obsolete hypoplasia of teeth roots skos:exactMatch OMIM:146400 semapv:UnspecifiedMatching MONDO:0007801 obsolete hypoplasia of teeth roots skos:exactMatch mesh:C564144 semapv:UnspecifiedMatching MONDO:0007802 hypospadias 3, autosomal skos:exactMatch MEDGEN:382538 semapv:UnspecifiedMatching MONDO:0007802 hypospadias 3, autosomal skos:exactMatch OMIM:146450 hypospadias 3, autosomal semapv:UnspecifiedMatching MONDO:0007802 hypospadias 3, autosomal skos:exactMatch UMLS:C2675154 semapv:UnspecifiedMatching MONDO:0007802 hypospadias 3, autosomal skos:exactMatch mesh:C567191 semapv:UnspecifiedMatching MONDO:0007803 multiple system atrophy skos:exactMatch DOID:4752 multiple system atrophy semapv:UnspecifiedMatching MONDO:0007803 multiple system atrophy skos:exactMatch EFO:1001050 semapv:UnspecifiedMatching MONDO:0007803 multiple system atrophy skos:exactMatch MEDGEN:98276 semapv:UnspecifiedMatching MONDO:0007803 multiple system atrophy skos:exactMatch NCIT:C84909 Multiple System Atrophy semapv:UnspecifiedMatching MONDO:0007803 multiple system atrophy skos:exactMatch Orphanet:102 Multiple system atrophy semapv:UnspecifiedMatching MONDO:0007803 multiple system atrophy skos:exactMatch UMLS:C0393571 semapv:UnspecifiedMatching MONDO:0007803 multiple system atrophy skos:exactMatch icd11.foundation:1890931931 Multiple system atrophy semapv:UnspecifiedMatching MONDO:0007803 multiple system atrophy skos:exactMatch mesh:D019578 semapv:UnspecifiedMatching MONDO:0007804 Pallister-Hall syndrome skos:exactMatch DOID:9248 Pallister-Hall syndrome semapv:UnspecifiedMatching MONDO:0007804 Pallister-Hall syndrome skos:exactMatch MEDGEN:120514 semapv:UnspecifiedMatching MONDO:0007804 Pallister-Hall syndrome skos:exactMatch NCIT:C84987 Pallister-Hall Syndrome semapv:UnspecifiedMatching MONDO:0007804 Pallister-Hall syndrome skos:exactMatch OMIM:146510 pallister-hall syndrome semapv:UnspecifiedMatching MONDO:0007804 Pallister-Hall syndrome skos:exactMatch Orphanet:672 Pallister-Hall syndrome semapv:UnspecifiedMatching MONDO:0007804 Pallister-Hall syndrome skos:exactMatch SCTID:56677004 semapv:UnspecifiedMatching MONDO:0007804 Pallister-Hall syndrome skos:exactMatch UMLS:C0265220 semapv:UnspecifiedMatching MONDO:0007804 Pallister-Hall syndrome skos:exactMatch icd11.foundation:1845613381 Pallister-Hall syndrome semapv:UnspecifiedMatching MONDO:0007804 Pallister-Hall syndrome skos:exactMatch mesh:D054975 semapv:UnspecifiedMatching MONDO:0007805 hypotrichosis 2 skos:exactMatch DOID:0110699 hypotrichosis 2 semapv:UnspecifiedMatching MONDO:0007805 hypotrichosis 2 skos:exactMatch MEDGEN:374435 semapv:UnspecifiedMatching MONDO:0007805 hypotrichosis 2 skos:exactMatch OMIM:146520 hypotrichosis 2 semapv:UnspecifiedMatching MONDO:0007805 hypotrichosis 2 skos:exactMatch UMLS:C1840299 semapv:UnspecifiedMatching MONDO:0007805 hypotrichosis 2 skos:exactMatch mesh:C564143 semapv:UnspecifiedMatching MONDO:0007807 hypoxanthine guanine phosphoribosyltransferase suppressor skos:exactMatch MEDGEN:326701 semapv:UnspecifiedMatching MONDO:0007807 hypoxanthine guanine phosphoribosyltransferase suppressor skos:exactMatch OMIM:146580 hypoxanthine guanine phosphoribosyltransferase suppressor semapv:UnspecifiedMatching MONDO:0007807 hypoxanthine guanine phosphoribosyltransferase suppressor skos:exactMatch UMLS:C1840297 semapv:UnspecifiedMatching MONDO:0007808 ichthyosis hystrix of Curth-Macklin skos:exactMatch MEDGEN:326700 semapv:UnspecifiedMatching MONDO:0007808 ichthyosis hystrix of Curth-Macklin skos:exactMatch OMIM:146590 ichthyosis hystrix, curth-macklin type semapv:UnspecifiedMatching MONDO:0007808 ichthyosis hystrix of Curth-Macklin skos:exactMatch Orphanet:79503 Ichthyosis hystrix of Curth-Macklin semapv:UnspecifiedMatching MONDO:0007808 ichthyosis hystrix of Curth-Macklin skos:exactMatch SCTID:254170001 semapv:UnspecifiedMatching MONDO:0007808 ichthyosis hystrix of Curth-Macklin skos:exactMatch UMLS:C1840296 semapv:UnspecifiedMatching MONDO:0007808 ichthyosis hystrix of Curth-Macklin skos:exactMatch mesh:C536088 semapv:UnspecifiedMatching MONDO:0007809 ichthyosis histrix, Lambert type skos:exactMatch MEDGEN:98487 semapv:UnspecifiedMatching MONDO:0007809 ichthyosis histrix, Lambert type skos:exactMatch OMIM:146600 ichthyosis hystrix, lambert type semapv:UnspecifiedMatching MONDO:0007809 ichthyosis histrix, Lambert type skos:exactMatch SCTID:254174005 semapv:UnspecifiedMatching MONDO:0007809 ichthyosis histrix, Lambert type skos:exactMatch UMLS:C0432311 semapv:UnspecifiedMatching MONDO:0007809 ichthyosis histrix, Lambert type skos:exactMatch mesh:C536087 semapv:UnspecifiedMatching MONDO:0007810 autosomal dominant ichthyosis vulgaris skos:exactMatch DOID:1702 ichthyosis vulgaris semapv:UnspecifiedMatching MONDO:0007810 autosomal dominant ichthyosis vulgaris skos:exactMatch ICD10CM:Q80.0 Ichthyosis vulgaris semapv:UnspecifiedMatching MONDO:0007810 autosomal dominant ichthyosis vulgaris skos:exactMatch MEDGEN:609440 semapv:UnspecifiedMatching MONDO:0007810 autosomal dominant ichthyosis vulgaris skos:exactMatch OMIM:146700 ichthyosis vulgaris semapv:UnspecifiedMatching MONDO:0007810 autosomal dominant ichthyosis vulgaris skos:exactMatch SCTID:254157005 semapv:UnspecifiedMatching MONDO:0007810 autosomal dominant ichthyosis vulgaris skos:exactMatch UMLS:C0432300 semapv:UnspecifiedMatching MONDO:0007811 ichthyosis-cheek-eyebrow syndrome skos:exactMatch MEDGEN:326697 semapv:UnspecifiedMatching MONDO:0007811 ichthyosis-cheek-eyebrow syndrome skos:exactMatch OMIM:146720 ichthyosis--cheek--eyebrow syndrome semapv:UnspecifiedMatching MONDO:0007811 ichthyosis-cheek-eyebrow syndrome skos:exactMatch SCTID:716097001 semapv:UnspecifiedMatching MONDO:0007811 ichthyosis-cheek-eyebrow syndrome skos:exactMatch UMLS:C1840283 semapv:UnspecifiedMatching MONDO:0007811 ichthyosis-cheek-eyebrow syndrome skos:exactMatch mesh:C536084 semapv:UnspecifiedMatching MONDO:0007812 ichthyosis, lamellar, autosomal dominant skos:exactMatch MEDGEN:98486 semapv:UnspecifiedMatching MONDO:0007812 ichthyosis, lamellar, autosomal dominant skos:exactMatch OMIM:146750 ichthyosis, lamellar, autosomal dominant semapv:UnspecifiedMatching MONDO:0007812 ichthyosis, lamellar, autosomal dominant skos:exactMatch SCTID:254164007 semapv:UnspecifiedMatching MONDO:0007812 ichthyosis, lamellar, autosomal dominant skos:exactMatch UMLS:C0432304 semapv:UnspecifiedMatching MONDO:0007812 ichthyosis, lamellar, autosomal dominant skos:exactMatch mesh:C537263 semapv:UnspecifiedMatching MONDO:0007813 superficial epidermolytic ichthyosis skos:exactMatch DOID:0060877 bullous congenital ichthyosiform erythroderma semapv:UnspecifiedMatching MONDO:0007813 superficial epidermolytic ichthyosis skos:exactMatch MEDGEN:98153 semapv:UnspecifiedMatching MONDO:0007813 superficial epidermolytic ichthyosis skos:exactMatch NCIT:C84777 Ichthyosis Bullosa of Siemens semapv:UnspecifiedMatching MONDO:0007813 superficial epidermolytic ichthyosis skos:exactMatch OMIM:146800 ichthyosis bullosa of siemens semapv:UnspecifiedMatching MONDO:0007813 superficial epidermolytic ichthyosis skos:exactMatch Orphanet:455 Superficial epidermolytic ichthyosis semapv:UnspecifiedMatching MONDO:0007813 superficial epidermolytic ichthyosis skos:exactMatch SCTID:254169002 semapv:UnspecifiedMatching MONDO:0007813 superficial epidermolytic ichthyosis skos:exactMatch UMLS:C0432306 semapv:UnspecifiedMatching MONDO:0007813 superficial epidermolytic ichthyosis skos:exactMatch icd11.foundation:842172475 Superficial epidermolytic ichthyosis semapv:UnspecifiedMatching MONDO:0007813 superficial epidermolytic ichthyosis skos:exactMatch mesh:D053560 semapv:UnspecifiedMatching MONDO:0007814 immune deficiency, familial variable skos:exactMatch MEDGEN:374426 semapv:UnspecifiedMatching MONDO:0007814 immune deficiency, familial variable skos:exactMatch OMIM:146830 immune deficiency, familial variable semapv:UnspecifiedMatching MONDO:0007814 immune deficiency, familial variable skos:exactMatch UMLS:C1840266 semapv:UnspecifiedMatching MONDO:0007814 immune deficiency, familial variable skos:exactMatch mesh:C564136 semapv:UnspecifiedMatching MONDO:0007816 obsolete immune suppression skos:exactMatch OMIM:146850 immune suppression semapv:UnspecifiedMatching MONDO:0007817 IgE responsiveness, atopic skos:exactMatch MEDGEN:327063 semapv:UnspecifiedMatching MONDO:0007817 IgE responsiveness, atopic skos:exactMatch NCIT:C3116 Type I Hypersensitivity semapv:UnspecifiedMatching MONDO:0007817 IgE responsiveness, atopic skos:exactMatch OMIM:147050 ige responsiveness, atopic semapv:UnspecifiedMatching MONDO:0007817 IgE responsiveness, atopic skos:exactMatch UMLS:C1840253 semapv:UnspecifiedMatching MONDO:0007817 IgE responsiveness, atopic skos:exactMatch mesh:C564133 semapv:UnspecifiedMatching MONDO:0007818 hyper-IgE recurrent infection syndrome 1, autosomal dominant skos:exactMatch DOID:3261 autosomal dominant hyper-IgE syndrome 1 with recurrent infections semapv:UnspecifiedMatching MONDO:0007818 hyper-IgE recurrent infection syndrome 1, autosomal dominant skos:exactMatch MEDGEN:445391 semapv:UnspecifiedMatching MONDO:0007818 hyper-IgE recurrent infection syndrome 1, autosomal dominant skos:exactMatch NCIT:C126342 STAT3 Deficiency semapv:UnspecifiedMatching MONDO:0007818 hyper-IgE recurrent infection syndrome 1, autosomal dominant skos:exactMatch OMIM:147060 hyper-ige syndrome 1, autosomal dominant, with recurrent infections semapv:UnspecifiedMatching MONDO:0007818 hyper-IgE recurrent infection syndrome 1, autosomal dominant skos:exactMatch Orphanet:2314 Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency semapv:UnspecifiedMatching MONDO:0007818 hyper-IgE recurrent infection syndrome 1, autosomal dominant skos:exactMatch SCTID:50926003 semapv:UnspecifiedMatching MONDO:0007818 hyper-IgE recurrent infection syndrome 1, autosomal dominant skos:exactMatch UMLS:C2936739 semapv:UnspecifiedMatching MONDO:0007818 hyper-IgE recurrent infection syndrome 1, autosomal dominant skos:exactMatch mesh:C564135 semapv:UnspecifiedMatching MONDO:0007818 hyper-IgE recurrent infection syndrome 1, autosomal dominant skos:exactMatch mesh:C567925 semapv:UnspecifiedMatching MONDO:0007819 solitary median maxillary central incisor syndrome skos:exactMatch MEDGEN:326686 semapv:UnspecifiedMatching MONDO:0007819 solitary median maxillary central incisor syndrome skos:exactMatch OMIM:147250 solitary median maxillary central incisor semapv:UnspecifiedMatching MONDO:0007819 solitary median maxillary central incisor syndrome skos:exactMatch SCTID:707609006 semapv:UnspecifiedMatching MONDO:0007819 solitary median maxillary central incisor syndrome skos:exactMatch UMLS:C1840235 semapv:UnspecifiedMatching MONDO:0007819 solitary median maxillary central incisor syndrome skos:exactMatch icd11.foundation:1834868112 Solitary median maxillary central incisor syndrome semapv:UnspecifiedMatching MONDO:0007819 solitary median maxillary central incisor syndrome skos:exactMatch mesh:C537342 semapv:UnspecifiedMatching MONDO:0007820 fused mandibular incisors skos:exactMatch MEDGEN:488128 semapv:UnspecifiedMatching MONDO:0007820 fused mandibular incisors skos:exactMatch OMIM:147251 incisors, fused mandibular semapv:UnspecifiedMatching MONDO:0007820 fused mandibular incisors skos:exactMatch Orphanet:2287 Fused mandibular incisors semapv:UnspecifiedMatching MONDO:0007820 fused mandibular incisors skos:exactMatch SCTID:707796002 semapv:UnspecifiedMatching MONDO:0007820 fused mandibular incisors skos:exactMatch UMLS:C3494175 semapv:UnspecifiedMatching MONDO:0007820 fused mandibular incisors skos:exactMatch icd11.foundation:1109888650 Fused mandibular incisors semapv:UnspecifiedMatching MONDO:0007821 obsolete immunoglobulin switch sequences skos:exactMatch OMIM:147260 immunoglobulin switch sequences semapv:UnspecifiedMatching MONDO:0007822 obsolete incisors, long upper central skos:exactMatch OMIM:147300 incisors, long upper central semapv:UnspecifiedMatching MONDO:0007823 obsolete insulin receptors, familial increase 1N skos:exactMatch OMIM:147320 insulin receptors, familial increase 1n semapv:UnspecifiedMatching MONDO:0007824 incisors, lower central, absence of skos:exactMatch MEDGEN:333512 semapv:UnspecifiedMatching MONDO:0007824 incisors, lower central, absence of skos:exactMatch OMIM:147330 incisors, lower central, absence of semapv:UnspecifiedMatching MONDO:0007824 incisors, lower central, absence of skos:exactMatch UMLS:C1840225 semapv:UnspecifiedMatching MONDO:0007825 incisors, rotation of upper central skos:exactMatch MEDGEN:374416 semapv:UnspecifiedMatching MONDO:0007825 incisors, rotation of upper central skos:exactMatch OMIM:147350 incisors, rotation of upper central semapv:UnspecifiedMatching MONDO:0007825 incisors, rotation of upper central skos:exactMatch UMLS:C1840224 semapv:UnspecifiedMatching MONDO:0007826 incisors, shovel-shaped skos:exactMatch MEDGEN:278058 semapv:UnspecifiedMatching MONDO:0007826 incisors, shovel-shaped skos:exactMatch OMIM:147400 incisors, shovel-shaped semapv:UnspecifiedMatching MONDO:0007826 incisors, shovel-shaped skos:exactMatch UMLS:C1409763 semapv:UnspecifiedMatching MONDO:0007827 inclusion body myositis skos:exactMatch DOID:3429 inclusion body myositis semapv:UnspecifiedMatching MONDO:0007827 inclusion body myositis skos:exactMatch EFO:0007323 semapv:UnspecifiedMatching MONDO:0007827 inclusion body myositis skos:exactMatch ICD10CM:G72.41 Inclusion body myositis [IBM] semapv:UnspecifiedMatching MONDO:0007827 inclusion body myositis skos:exactMatch MEDGEN:68659 semapv:UnspecifiedMatching MONDO:0007827 inclusion body myositis skos:exactMatch NCIT:C84786 Inclusion Body Myositis semapv:UnspecifiedMatching MONDO:0007827 inclusion body myositis skos:exactMatch OMIM:147421 inclusion body myositis semapv:UnspecifiedMatching MONDO:0007827 inclusion body myositis skos:exactMatch Orphanet:611 Inclusion body myositis semapv:UnspecifiedMatching MONDO:0007827 inclusion body myositis skos:exactMatch SCTID:72315009 semapv:UnspecifiedMatching MONDO:0007827 inclusion body myositis skos:exactMatch UMLS:C0238190 semapv:UnspecifiedMatching MONDO:0007827 inclusion body myositis skos:exactMatch mesh:D018979 semapv:UnspecifiedMatching MONDO:0007829 cholestasis, intrahepatic, of pregnancy, 1 skos:exactMatch DOID:0070228 intrahepatic cholestasis of pregnancy 1 semapv:UnspecifiedMatching MONDO:0007829 cholestasis, intrahepatic, of pregnancy, 1 skos:exactMatch MEDGEN:762759 semapv:UnspecifiedMatching MONDO:0007829 cholestasis, intrahepatic, of pregnancy, 1 skos:exactMatch OMIM:147480 cholestasis, intrahepatic, of pregnancy, 1 semapv:UnspecifiedMatching MONDO:0007829 cholestasis, intrahepatic, of pregnancy, 1 skos:exactMatch UMLS:C3549845 semapv:UnspecifiedMatching MONDO:0007830 insensitivity to pain with hyperplastic Myelinopathy skos:exactMatch MEDGEN:327046 semapv:UnspecifiedMatching MONDO:0007830 insensitivity to pain with hyperplastic Myelinopathy skos:exactMatch OMIM:147530 insensitivity to pain with hyperplastic myelinopathy semapv:UnspecifiedMatching MONDO:0007830 insensitivity to pain with hyperplastic Myelinopathy skos:exactMatch UMLS:C1840172 semapv:UnspecifiedMatching MONDO:0007831 insect Stings, hypersensitivity to skos:exactMatch MEDGEN:327045 semapv:UnspecifiedMatching MONDO:0007831 insect Stings, hypersensitivity to skos:exactMatch OMIM:147540 insect stings, hypersensitivity to semapv:UnspecifiedMatching MONDO:0007831 insect Stings, hypersensitivity to skos:exactMatch UMLS:C1840171 semapv:UnspecifiedMatching MONDO:0007832 interferon antiviral depressor skos:exactMatch MEDGEN:333493 semapv:UnspecifiedMatching MONDO:0007832 interferon antiviral depressor skos:exactMatch OMIM:147560 interferon antiviral depressor semapv:UnspecifiedMatching MONDO:0007832 interferon antiviral depressor skos:exactMatch UMLS:C1840150 semapv:UnspecifiedMatching MONDO:0007833 iris pigment layer, cleavage of skos:exactMatch MEDGEN:326664 semapv:UnspecifiedMatching MONDO:0007833 iris pigment layer, cleavage of skos:exactMatch OMIM:147610 iris pigment layer, cleavage of semapv:UnspecifiedMatching MONDO:0007833 iris pigment layer, cleavage of skos:exactMatch UMLS:C1840140 semapv:UnspecifiedMatching MONDO:0007834 islet cell adenomatosis skos:exactMatch MEDGEN:293643 semapv:UnspecifiedMatching MONDO:0007834 islet cell adenomatosis skos:exactMatch NCIT:C4375 Nesidioblastosis semapv:UnspecifiedMatching MONDO:0007834 islet cell adenomatosis skos:exactMatch OMIM:147630 insulinomatosis and diabetes mellitus semapv:UnspecifiedMatching MONDO:0007834 islet cell adenomatosis skos:exactMatch SCTID:274944000 semapv:UnspecifiedMatching MONDO:0007834 islet cell adenomatosis skos:exactMatch UMLS:C1578917 semapv:UnspecifiedMatching MONDO:0007834 islet cell adenomatosis skos:exactMatch mesh:C563258 semapv:UnspecifiedMatching MONDO:0007835 intussusception skos:exactMatch DOID:8446 intussusception semapv:UnspecifiedMatching MONDO:0007835 intussusception skos:exactMatch ICD10CM:K56.1 Intussusception semapv:UnspecifiedMatching MONDO:0007835 intussusception skos:exactMatch MEDGEN:43940 semapv:UnspecifiedMatching MONDO:0007835 intussusception skos:exactMatch OMIM:147710 intussusception semapv:UnspecifiedMatching MONDO:0007835 intussusception skos:exactMatch SCTID:49723003 semapv:UnspecifiedMatching MONDO:0007835 intussusception skos:exactMatch UMLS:C0021933 semapv:UnspecifiedMatching MONDO:0007835 intussusception skos:exactMatch mesh:D007443 semapv:UnspecifiedMatching MONDO:0007836 IVIC syndrome skos:exactMatch DOID:0111381 IVIC syndrome semapv:UnspecifiedMatching MONDO:0007836 IVIC syndrome skos:exactMatch MEDGEN:233003 semapv:UnspecifiedMatching MONDO:0007836 IVIC syndrome skos:exactMatch OMIM:147750 IVIC syndrome semapv:UnspecifiedMatching MONDO:0007836 IVIC syndrome skos:exactMatch Orphanet:2307 IVIC syndrome semapv:UnspecifiedMatching MONDO:0007836 IVIC syndrome skos:exactMatch SCTID:722019000 semapv:UnspecifiedMatching MONDO:0007836 IVIC syndrome skos:exactMatch UMLS:C1327918 semapv:UnspecifiedMatching MONDO:0007836 IVIC syndrome skos:exactMatch mesh:C535544 semapv:UnspecifiedMatching MONDO:0007837 Johnson neuroectodermal syndrome skos:exactMatch MEDGEN:167092 semapv:UnspecifiedMatching MONDO:0007837 Johnson neuroectodermal syndrome skos:exactMatch OMIM:147770 johnson neuroectodermal syndrome semapv:UnspecifiedMatching MONDO:0007837 Johnson neuroectodermal syndrome skos:exactMatch Orphanet:2316 Johnson neuroectodermal syndrome semapv:UnspecifiedMatching MONDO:0007837 Johnson neuroectodermal syndrome skos:exactMatch SCTID:721584005 semapv:UnspecifiedMatching MONDO:0007837 Johnson neuroectodermal syndrome skos:exactMatch UMLS:C0796002 semapv:UnspecifiedMatching MONDO:0007837 Johnson neuroectodermal syndrome skos:exactMatch icd11.foundation:1480597785 Johnson neuroectodermal syndrome semapv:UnspecifiedMatching MONDO:0007837 Johnson neuroectodermal syndrome skos:exactMatch mesh:C535882 semapv:UnspecifiedMatching MONDO:0007838 Jacobsen syndrome skos:exactMatch DOID:0111723 Jacobsen Syndrome semapv:UnspecifiedMatching MONDO:0007838 Jacobsen syndrome skos:exactMatch MEDGEN:162878 semapv:UnspecifiedMatching MONDO:0007838 Jacobsen syndrome skos:exactMatch NCIT:C75457 Jacobsen Syndrome semapv:UnspecifiedMatching MONDO:0007838 Jacobsen syndrome skos:exactMatch OMIM:147791 jacobsen syndrome semapv:UnspecifiedMatching MONDO:0007838 Jacobsen syndrome skos:exactMatch Orphanet:2308 Jacobsen syndrome semapv:UnspecifiedMatching MONDO:0007838 Jacobsen syndrome skos:exactMatch SCTID:715438008 semapv:UnspecifiedMatching MONDO:0007838 Jacobsen syndrome skos:exactMatch UMLS:C0795841 semapv:UnspecifiedMatching MONDO:0007838 Jacobsen syndrome skos:exactMatch icd11.foundation:27788176 Jacobsen syndrome semapv:UnspecifiedMatching MONDO:0007839 Aase-Smith syndrome skos:exactMatch MEDGEN:66316 semapv:UnspecifiedMatching MONDO:0007839 Aase-Smith syndrome skos:exactMatch OMIM:147800 aase-smith syndrome 1 semapv:UnspecifiedMatching MONDO:0007839 Aase-Smith syndrome skos:exactMatch Orphanet:916 Aase-Smith syndrome semapv:UnspecifiedMatching MONDO:0007839 Aase-Smith syndrome skos:exactMatch SCTID:718576001 semapv:UnspecifiedMatching MONDO:0007839 Aase-Smith syndrome skos:exactMatch UMLS:C0220686 semapv:UnspecifiedMatching MONDO:0007839 Aase-Smith syndrome skos:exactMatch mesh:C535332 semapv:UnspecifiedMatching MONDO:0007840 internal carotid artery, spontaneous dissection of skos:exactMatch MEDGEN:333477 semapv:UnspecifiedMatching MONDO:0007840 internal carotid artery, spontaneous dissection of skos:exactMatch OMIM:147820 internal carotid artery, spontaneous dissection of semapv:UnspecifiedMatching MONDO:0007840 internal carotid artery, spontaneous dissection of skos:exactMatch UMLS:C1840073 semapv:UnspecifiedMatching MONDO:0007840 internal carotid artery, spontaneous dissection of skos:exactMatch mesh:C564125 semapv:UnspecifiedMatching MONDO:0007841 coxopodopatellar syndrome skos:exactMatch DOID:0111382 ischiocoxopodopatellar syndrome semapv:UnspecifiedMatching MONDO:0007841 coxopodopatellar syndrome skos:exactMatch MEDGEN:333474 semapv:UnspecifiedMatching MONDO:0007841 coxopodopatellar syndrome skos:exactMatch OMIM:147891 ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension semapv:UnspecifiedMatching MONDO:0007841 coxopodopatellar syndrome skos:exactMatch Orphanet:1509 Coxopodopatellar syndrome semapv:UnspecifiedMatching MONDO:0007841 coxopodopatellar syndrome skos:exactMatch SCTID:720752007 semapv:UnspecifiedMatching MONDO:0007841 coxopodopatellar syndrome skos:exactMatch UMLS:C1840061 semapv:UnspecifiedMatching MONDO:0007841 coxopodopatellar syndrome skos:exactMatch icd11.foundation:794154672 Coxopodopatellar syndrome semapv:UnspecifiedMatching MONDO:0007841 coxopodopatellar syndrome skos:exactMatch mesh:C535540 semapv:UnspecifiedMatching MONDO:0007842 joint laxity, familial skos:exactMatch MEDGEN:120629 semapv:UnspecifiedMatching MONDO:0007842 joint laxity, familial skos:exactMatch OMIM:147900 joint laxity, familial semapv:UnspecifiedMatching MONDO:0007842 joint laxity, familial skos:exactMatch Orphanet:2295 Familial articular hypermobility syndrome semapv:UnspecifiedMatching MONDO:0007842 joint laxity, familial skos:exactMatch SCTID:71322004 semapv:UnspecifiedMatching MONDO:0007842 joint laxity, familial skos:exactMatch UMLS:C0268349 semapv:UnspecifiedMatching MONDO:0007842 joint laxity, familial skos:exactMatch mesh:C535884 semapv:UnspecifiedMatching MONDO:0007843 Kabuki syndrome 1 skos:exactMatch OMIM:147920 kabuki syndrome 1 semapv:UnspecifiedMatching MONDO:0007844 hypogonadotropic hypogonadism 2 with or without anosmia skos:exactMatch DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia semapv:UnspecifiedMatching MONDO:0007844 hypogonadotropic hypogonadism 2 with or without anosmia skos:exactMatch MEDGEN:289648 semapv:UnspecifiedMatching MONDO:0007844 hypogonadotropic hypogonadism 2 with or without anosmia skos:exactMatch OMIM:147950 hypogonadotropic hypogonadism 2 with or without anosmia semapv:UnspecifiedMatching MONDO:0007844 hypogonadotropic hypogonadism 2 with or without anosmia skos:exactMatch UMLS:C1563720 semapv:UnspecifiedMatching MONDO:0007845 Kaposi sarcoma, susceptibility to skos:exactMatch MEDGEN:761233 semapv:UnspecifiedMatching MONDO:0007845 Kaposi sarcoma, susceptibility to skos:exactMatch OMIM:148000 kaposi sarcoma, susceptibility to semapv:UnspecifiedMatching MONDO:0007845 Kaposi sarcoma, susceptibility to skos:exactMatch UMLS:C3538945 semapv:UnspecifiedMatching MONDO:0007846 KBG syndrome skos:exactMatch DOID:14780 KBG syndrome semapv:UnspecifiedMatching MONDO:0007846 KBG syndrome skos:exactMatch MEDGEN:66317 semapv:UnspecifiedMatching MONDO:0007846 KBG syndrome skos:exactMatch OMIM:148050 kbg syndrome semapv:UnspecifiedMatching MONDO:0007846 KBG syndrome skos:exactMatch Orphanet:2332 KBG syndrome semapv:UnspecifiedMatching MONDO:0007846 KBG syndrome skos:exactMatch SCTID:711156009 semapv:UnspecifiedMatching MONDO:0007846 KBG syndrome skos:exactMatch UMLS:C0220687 semapv:UnspecifiedMatching MONDO:0007846 KBG syndrome skos:exactMatch icd11.foundation:465550090 KBG syndrome semapv:UnspecifiedMatching MONDO:0007846 KBG syndrome skos:exactMatch mesh:C537015 semapv:UnspecifiedMatching MONDO:0007847 keloid formation skos:exactMatch MEDGEN:460844 semapv:UnspecifiedMatching MONDO:0007847 keloid formation skos:exactMatch OMIM:148100 keloid formation semapv:UnspecifiedMatching MONDO:0007847 keloid formation skos:exactMatch UMLS:C3149494 semapv:UnspecifiedMatching MONDO:0007848 autosomal dominant keratitis skos:exactMatch DOID:0111383 autosomal dominant keratitis semapv:UnspecifiedMatching MONDO:0007848 autosomal dominant keratitis skos:exactMatch MEDGEN:332039 semapv:UnspecifiedMatching MONDO:0007848 autosomal dominant keratitis skos:exactMatch OMIM:148190 keratitis, hereditary semapv:UnspecifiedMatching MONDO:0007848 autosomal dominant keratitis skos:exactMatch Orphanet:2334 Autosomal dominant keratitis semapv:UnspecifiedMatching MONDO:0007848 autosomal dominant keratitis skos:exactMatch SCTID:715339004 semapv:UnspecifiedMatching MONDO:0007848 autosomal dominant keratitis skos:exactMatch UMLS:C1835698 semapv:UnspecifiedMatching MONDO:0007848 autosomal dominant keratitis skos:exactMatch icd11.foundation:682617640 Autosomal dominant keratitis semapv:UnspecifiedMatching MONDO:0007848 autosomal dominant keratitis skos:exactMatch mesh:C537022 semapv:UnspecifiedMatching MONDO:0007849 keratitis fugax hereditaria skos:exactMatch MEDGEN:372107 semapv:UnspecifiedMatching MONDO:0007849 keratitis fugax hereditaria skos:exactMatch OMIM:148200 keratoendotheliitis fugax hereditaria semapv:UnspecifiedMatching MONDO:0007849 keratitis fugax hereditaria skos:exactMatch Orphanet:647815 Keratitis fugax hereditaria semapv:UnspecifiedMatching MONDO:0007849 keratitis fugax hereditaria skos:exactMatch UMLS:C1835697 semapv:UnspecifiedMatching MONDO:0007849 keratitis fugax hereditaria skos:exactMatch mesh:C563650 semapv:UnspecifiedMatching MONDO:0007850 autosomal dominant keratitis-ichthyosis-hearing loss syndrome skos:exactMatch DOID:0060871 autosomal dominant keratitis-ichthyosis-deafness syndrome semapv:UnspecifiedMatching MONDO:0007850 autosomal dominant keratitis-ichthyosis-hearing loss syndrome skos:exactMatch MEDGEN:120536 semapv:UnspecifiedMatching MONDO:0007850 autosomal dominant keratitis-ichthyosis-hearing loss syndrome skos:exactMatch OMIM:148210 keratitis-ichthyosis-deafness syndrome, autosomal dominant semapv:UnspecifiedMatching MONDO:0007850 autosomal dominant keratitis-ichthyosis-hearing loss syndrome skos:exactMatch UMLS:C0265336 semapv:UnspecifiedMatching MONDO:0007851 keratoconus 1 skos:exactMatch MEDGEN:372103 semapv:UnspecifiedMatching MONDO:0007851 keratoconus 1 skos:exactMatch OMIM:148300 keratoconus 1 semapv:UnspecifiedMatching MONDO:0007851 keratoconus 1 skos:exactMatch UMLS:C1835677 semapv:UnspecifiedMatching MONDO:0007851 keratoconus 1 skos:exactMatch mesh:C563649 semapv:UnspecifiedMatching MONDO:0007852 palmoplantar keratoderma-deafness syndrome skos:exactMatch DOID:0111505 palmoplantar keratoderma-deafness syndrome semapv:UnspecifiedMatching MONDO:0007852 palmoplantar keratoderma-deafness syndrome skos:exactMatch MEDGEN:332030 semapv:UnspecifiedMatching MONDO:0007852 palmoplantar keratoderma-deafness syndrome skos:exactMatch OMIM:148350 keratoderma, palmoplantar, with deafness semapv:UnspecifiedMatching MONDO:0007852 palmoplantar keratoderma-deafness syndrome skos:exactMatch Orphanet:2202 Palmoplantar keratoderma-deafness syndrome semapv:UnspecifiedMatching MONDO:0007852 palmoplantar keratoderma-deafness syndrome skos:exactMatch UMLS:C1835672 semapv:UnspecifiedMatching MONDO:0007852 palmoplantar keratoderma-deafness syndrome skos:exactMatch mesh:C536152 semapv:UnspecifiedMatching MONDO:0007853 palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome skos:exactMatch MEDGEN:322722 semapv:UnspecifiedMatching MONDO:0007853 palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome skos:exactMatch OMIM:148360 keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathy semapv:UnspecifiedMatching MONDO:0007853 palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome skos:exactMatch Orphanet:538574 Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome semapv:UnspecifiedMatching MONDO:0007853 palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome skos:exactMatch UMLS:C1835671 semapv:UnspecifiedMatching MONDO:0007853 palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome skos:exactMatch mesh:C536153 semapv:UnspecifiedMatching MONDO:0007854 keratolytic winter erythema skos:exactMatch MEDGEN:98359 semapv:UnspecifiedMatching MONDO:0007854 keratolytic winter erythema skos:exactMatch OMIM:148370 keratolytic winter erythema semapv:UnspecifiedMatching MONDO:0007854 keratolytic winter erythema skos:exactMatch Orphanet:50943 Keratolytic winter erythema semapv:UnspecifiedMatching MONDO:0007854 keratolytic winter erythema skos:exactMatch SCTID:239064000 semapv:UnspecifiedMatching MONDO:0007854 keratolytic winter erythema skos:exactMatch UMLS:C0406756 semapv:UnspecifiedMatching MONDO:0007854 keratolytic winter erythema skos:exactMatch icd11.foundation:1491245207 Keratolytic winter erythema semapv:UnspecifiedMatching MONDO:0007854 keratolytic winter erythema skos:exactMatch mesh:C536155 semapv:UnspecifiedMatching MONDO:0007855 keratosis, familial actinic skos:exactMatch MEDGEN:390709 semapv:UnspecifiedMatching MONDO:0007855 keratosis, familial actinic skos:exactMatch OMIM:148390 keratosis, familial actinic semapv:UnspecifiedMatching MONDO:0007855 keratosis, familial actinic skos:exactMatch UMLS:C2675099 semapv:UnspecifiedMatching MONDO:0007855 keratosis, familial actinic skos:exactMatch mesh:C567190 semapv:UnspecifiedMatching MONDO:0007856 palmoplantar keratoderma-esophageal carcinoma syndrome skos:exactMatch DOID:0111506 palmoplantar keratoderma-esophageal carcinoma syndrome semapv:UnspecifiedMatching MONDO:0007856 palmoplantar keratoderma-esophageal carcinoma syndrome skos:exactMatch MEDGEN:324338 semapv:UnspecifiedMatching MONDO:0007856 palmoplantar keratoderma-esophageal carcinoma syndrome skos:exactMatch OMIM:148500 tylosis with esophageal cancer semapv:UnspecifiedMatching MONDO:0007856 palmoplantar keratoderma-esophageal carcinoma syndrome skos:exactMatch Orphanet:2198 Palmoplantar keratoderma-esophageal carcinoma syndrome semapv:UnspecifiedMatching MONDO:0007856 palmoplantar keratoderma-esophageal carcinoma syndrome skos:exactMatch SCTID:111030006 semapv:UnspecifiedMatching MONDO:0007856 palmoplantar keratoderma-esophageal carcinoma syndrome skos:exactMatch UMLS:C1835664 semapv:UnspecifiedMatching MONDO:0007856 palmoplantar keratoderma-esophageal carcinoma syndrome skos:exactMatch mesh:C536164 semapv:UnspecifiedMatching MONDO:0007857 keratosis palmaris et plantaris-clinodactyly syndrome skos:exactMatch MEDGEN:320656 semapv:UnspecifiedMatching MONDO:0007857 keratosis palmaris et plantaris-clinodactyly syndrome skos:exactMatch OMIM:148520 keratosis palmaris et plantaris with clinodactyly semapv:UnspecifiedMatching MONDO:0007857 keratosis palmaris et plantaris-clinodactyly syndrome skos:exactMatch Orphanet:86919 Keratosis palmaris et plantaris-clinodactyly syndrome semapv:UnspecifiedMatching MONDO:0007857 keratosis palmaris et plantaris-clinodactyly syndrome skos:exactMatch UMLS:C1835663 semapv:UnspecifiedMatching MONDO:0007857 keratosis palmaris et plantaris-clinodactyly syndrome skos:exactMatch mesh:C563646 semapv:UnspecifiedMatching MONDO:0007858 palmoplantar keratoderma, punctate type 1A skos:exactMatch DOID:0080214 punctate palmoplantar keratoderma type I semapv:UnspecifiedMatching MONDO:0007858 palmoplantar keratoderma, punctate type 1A skos:exactMatch OMIM:148600 palmoplantar keratoderma, punctate type 1a semapv:UnspecifiedMatching MONDO:0007859 palmoplantar keratoderma i, striate, focal, or diffuse skos:exactMatch DOID:0081108 keratosis palmoplantaris striata 1 semapv:UnspecifiedMatching MONDO:0007859 palmoplantar keratoderma i, striate, focal, or diffuse skos:exactMatch MEDGEN:419717 semapv:UnspecifiedMatching MONDO:0007859 palmoplantar keratoderma i, striate, focal, or diffuse skos:exactMatch OMIM:148700 palmoplantar keratoderma i, striate, focal, or diffuse semapv:UnspecifiedMatching MONDO:0007859 palmoplantar keratoderma i, striate, focal, or diffuse skos:exactMatch UMLS:C2931122 semapv:UnspecifiedMatching MONDO:0007859 palmoplantar keratoderma i, striate, focal, or diffuse skos:exactMatch mesh:C536162 semapv:UnspecifiedMatching MONDO:0007860 focal palmoplantar and gingival keratoderma skos:exactMatch DOID:0070553 focal palmoplantar and gingival keratosis semapv:UnspecifiedMatching MONDO:0007860 focal palmoplantar and gingival keratoderma skos:exactMatch MEDGEN:372097 semapv:UnspecifiedMatching MONDO:0007860 focal palmoplantar and gingival keratoderma skos:exactMatch OMIM:148730 keratosis, focal palmoplantar and gingival semapv:UnspecifiedMatching MONDO:0007860 focal palmoplantar and gingival keratoderma skos:exactMatch Orphanet:2200 Focal palmoplantar and gingival keratoderma semapv:UnspecifiedMatching MONDO:0007860 focal palmoplantar and gingival keratoderma skos:exactMatch SCTID:764963007 semapv:UnspecifiedMatching MONDO:0007860 focal palmoplantar and gingival keratoderma skos:exactMatch UMLS:C1835650 semapv:UnspecifiedMatching MONDO:0007860 focal palmoplantar and gingival keratoderma skos:exactMatch mesh:C536157 semapv:UnspecifiedMatching MONDO:0007861 isolated cloverleaf skull syndrome skos:exactMatch MEDGEN:98141 semapv:UnspecifiedMatching MONDO:0007861 isolated cloverleaf skull syndrome skos:exactMatch OMIM:148800 kleeblattschaedel semapv:UnspecifiedMatching MONDO:0007861 isolated cloverleaf skull syndrome skos:exactMatch SCTID:254022009 semapv:UnspecifiedMatching MONDO:0007861 isolated cloverleaf skull syndrome skos:exactMatch UMLS:C0432126 semapv:UnspecifiedMatching MONDO:0007861 isolated cloverleaf skull syndrome skos:exactMatch mesh:C536884 semapv:UnspecifiedMatching MONDO:0007862 Waardenburg syndrome type 3 skos:exactMatch DOID:0110949 Waardenburg syndrome type 3 semapv:UnspecifiedMatching MONDO:0007862 Waardenburg syndrome type 3 skos:exactMatch MEDGEN:86948 semapv:UnspecifiedMatching MONDO:0007862 Waardenburg syndrome type 3 skos:exactMatch OMIM:148820 waardenburg syndrome, type 3 semapv:UnspecifiedMatching MONDO:0007862 Waardenburg syndrome type 3 skos:exactMatch Orphanet:896 Waardenburg syndrome type 3 semapv:UnspecifiedMatching MONDO:0007862 Waardenburg syndrome type 3 skos:exactMatch UMLS:C0079661 semapv:UnspecifiedMatching MONDO:0007862 Waardenburg syndrome type 3 skos:exactMatch icd11.foundation:847608197 Waardenburg syndrome type 3 semapv:UnspecifiedMatching MONDO:0007863 Kleine-Levin syndrome skos:exactMatch DOID:0060165 Kleine-Levin syndrome semapv:UnspecifiedMatching MONDO:0007863 Kleine-Levin syndrome skos:exactMatch EFO:1001354 semapv:UnspecifiedMatching MONDO:0007863 Kleine-Levin syndrome skos:exactMatch MEDGEN:61511 semapv:UnspecifiedMatching MONDO:0007863 Kleine-Levin syndrome skos:exactMatch NCIT:C84800 Kleine-Levin Syndrome semapv:UnspecifiedMatching MONDO:0007863 Kleine-Levin syndrome skos:exactMatch OMIM:148840 kleine-levin hibernation syndrome semapv:UnspecifiedMatching MONDO:0007863 Kleine-Levin syndrome skos:exactMatch Orphanet:33543 Kleine-Levin syndrome semapv:UnspecifiedMatching MONDO:0007863 Kleine-Levin syndrome skos:exactMatch SCTID:111488004 semapv:UnspecifiedMatching MONDO:0007863 Kleine-Levin syndrome skos:exactMatch UMLS:C0206085 semapv:UnspecifiedMatching MONDO:0007863 Kleine-Levin syndrome skos:exactMatch icd11.foundation:1180849398 Kleine-Levin syndrome semapv:UnspecifiedMatching MONDO:0007863 Kleine-Levin syndrome skos:exactMatch mesh:D017593 semapv:UnspecifiedMatching MONDO:0007864 angioosteohypertrophic syndrome skos:exactMatch DOID:2926 Klippel-Trenaunay syndrome semapv:UnspecifiedMatching MONDO:0007864 angioosteohypertrophic syndrome skos:exactMatch MEDGEN:9646 semapv:UnspecifiedMatching MONDO:0007864 angioosteohypertrophic syndrome skos:exactMatch NCIT:C84801 Klippel-Trenaunay-Weber Syndrome semapv:UnspecifiedMatching MONDO:0007864 angioosteohypertrophic syndrome skos:exactMatch OMIM:149000 klippel-trenaunay-weber syndrome semapv:UnspecifiedMatching MONDO:0007864 angioosteohypertrophic syndrome skos:exactMatch Orphanet:90308 Capillary-lymphatic-venous malformation with segmental distribution semapv:UnspecifiedMatching MONDO:0007864 angioosteohypertrophic syndrome skos:exactMatch SCTID:721105004 semapv:UnspecifiedMatching MONDO:0007864 angioosteohypertrophic syndrome skos:exactMatch UMLS:C0022739 semapv:UnspecifiedMatching MONDO:0007864 angioosteohypertrophic syndrome skos:exactMatch icd11.foundation:1561120378 Angio-osteohypertrophic syndrome semapv:UnspecifiedMatching MONDO:0007864 angioosteohypertrophic syndrome skos:exactMatch mesh:D007715 semapv:UnspecifiedMatching MONDO:0007865 knuckle pads skos:exactMatch ICD10CM:M72.1 Knuckle pads semapv:UnspecifiedMatching MONDO:0007865 knuckle pads skos:exactMatch MEDGEN:78103 semapv:UnspecifiedMatching MONDO:0007865 knuckle pads skos:exactMatch OMIM:149100 knuckle pads semapv:UnspecifiedMatching MONDO:0007865 knuckle pads skos:exactMatch SCTID:16687001 semapv:UnspecifiedMatching MONDO:0007865 knuckle pads skos:exactMatch UMLS:C0264000 semapv:UnspecifiedMatching MONDO:0007865 knuckle pads skos:exactMatch icd11.foundation:1824875472 Knuckle pads semapv:UnspecifiedMatching MONDO:0007866 Bart-Pumphrey syndrome skos:exactMatch DOID:0050658 Bart-Pumphrey syndrome semapv:UnspecifiedMatching MONDO:0007866 Bart-Pumphrey syndrome skos:exactMatch MEDGEN:82727 semapv:UnspecifiedMatching MONDO:0007866 Bart-Pumphrey syndrome skos:exactMatch OMIM:149200 bart-pumphrey syndrome semapv:UnspecifiedMatching MONDO:0007866 Bart-Pumphrey syndrome skos:exactMatch Orphanet:2698 Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome semapv:UnspecifiedMatching MONDO:0007866 Bart-Pumphrey syndrome skos:exactMatch SCTID:1271009 semapv:UnspecifiedMatching MONDO:0007866 Bart-Pumphrey syndrome skos:exactMatch UMLS:C0266004 semapv:UnspecifiedMatching MONDO:0007866 Bart-Pumphrey syndrome skos:exactMatch mesh:C537210 semapv:UnspecifiedMatching MONDO:0007867 nonsyndromic congenital nail disorder 2 skos:exactMatch DOID:0080080 nonsyndromic congenital nail disorder 2 semapv:UnspecifiedMatching MONDO:0007867 nonsyndromic congenital nail disorder 2 skos:exactMatch MEDGEN:75593 semapv:UnspecifiedMatching MONDO:0007867 nonsyndromic congenital nail disorder 2 skos:exactMatch OMIM:149300 nail disorder, nonsyndromic congenital, 2 semapv:UnspecifiedMatching MONDO:0007867 nonsyndromic congenital nail disorder 2 skos:exactMatch SCTID:66270006 semapv:UnspecifiedMatching MONDO:0007867 nonsyndromic congenital nail disorder 2 skos:exactMatch UMLS:C0266000 semapv:UnspecifiedMatching MONDO:0007867 nonsyndromic congenital nail disorder 2 skos:exactMatch mesh:C537260 semapv:UnspecifiedMatching MONDO:0007868 hyperekplexia 1 skos:exactMatch DOID:0060696 hyperekplexia 1 semapv:UnspecifiedMatching MONDO:0007868 hyperekplexia 1 skos:exactMatch MEDGEN:1647581 semapv:UnspecifiedMatching MONDO:0007868 hyperekplexia 1 skos:exactMatch OMIM:149400 hyperekplexia 1 semapv:UnspecifiedMatching MONDO:0007868 hyperekplexia 1 skos:exactMatch UMLS:C4551954 semapv:UnspecifiedMatching MONDO:0007869 Kyrle disease skos:exactMatch ICD10CM:L87.0 Keratosis follicularis et parafollicularis in cutem penetrans semapv:UnspecifiedMatching MONDO:0007869 Kyrle disease skos:exactMatch MEDGEN:75516 semapv:UnspecifiedMatching MONDO:0007869 Kyrle disease skos:exactMatch OMIM:149500 kyrle disease semapv:UnspecifiedMatching MONDO:0007869 Kyrle disease skos:exactMatch SCTID:34042008 semapv:UnspecifiedMatching MONDO:0007869 Kyrle disease skos:exactMatch UMLS:C0263382 semapv:UnspecifiedMatching MONDO:0007869 Kyrle disease skos:exactMatch mesh:C538130 semapv:UnspecifiedMatching MONDO:0007870 labia minora, incomplete adhesion of skos:exactMatch MEDGEN:372090 semapv:UnspecifiedMatching MONDO:0007870 labia minora, incomplete adhesion of skos:exactMatch OMIM:149600 labia minora, incomplete adhesion of semapv:UnspecifiedMatching MONDO:0007870 labia minora, incomplete adhesion of skos:exactMatch UMLS:C1835613 semapv:UnspecifiedMatching MONDO:0007871 familial congenital nasolacrimal duct obstruction skos:exactMatch MEDGEN:332018 semapv:UnspecifiedMatching MONDO:0007871 familial congenital nasolacrimal duct obstruction skos:exactMatch OMIM:149700 lacrimal duct defect semapv:UnspecifiedMatching MONDO:0007871 familial congenital nasolacrimal duct obstruction skos:exactMatch Orphanet:451612 Familial congenital nasolacrimal duct obstruction semapv:UnspecifiedMatching MONDO:0007871 familial congenital nasolacrimal duct obstruction skos:exactMatch UMLS:C1835612 semapv:UnspecifiedMatching MONDO:0007871 familial congenital nasolacrimal duct obstruction skos:exactMatch mesh:C566703 semapv:UnspecifiedMatching MONDO:0007872 LADD syndrome skos:exactMatch DOID:0050331 lacrimoauriculodentodigital syndrome 1 semapv:UnspecifiedMatching MONDO:0007872 LADD syndrome skos:exactMatch DOID:0081370 LADD syndrome semapv:UnspecifiedMatching MONDO:0007872 LADD syndrome skos:exactMatch MEDGEN:78545 semapv:UnspecifiedMatching MONDO:0007872 LADD syndrome skos:exactMatch OMIMPS:149730 Lacrimoauriculodentodigital syndrome semapv:UnspecifiedMatching MONDO:0007872 LADD syndrome skos:exactMatch Orphanet:2363 Lacrimoauriculodentodigital syndrome semapv:UnspecifiedMatching MONDO:0007872 LADD syndrome skos:exactMatch SCTID:23817003 semapv:UnspecifiedMatching MONDO:0007872 LADD syndrome skos:exactMatch UMLS:C0265269 semapv:UnspecifiedMatching MONDO:0007872 LADD syndrome skos:exactMatch mesh:C538132 semapv:UnspecifiedMatching MONDO:0007873 lactic acidosis, chronic adult form skos:exactMatch MEDGEN:320642 semapv:UnspecifiedMatching MONDO:0007873 lactic acidosis, chronic adult form skos:exactMatch OMIM:150170 lactic acidosis, chronic adult form semapv:UnspecifiedMatching MONDO:0007873 lactic acidosis, chronic adult form skos:exactMatch UMLS:C1835591 semapv:UnspecifiedMatching MONDO:0007873 lactic acidosis, chronic adult form skos:exactMatch mesh:C563640 semapv:UnspecifiedMatching MONDO:0007874 trichorhinophalangeal syndrome type II skos:exactMatch DOID:4998 trichorhinophalangeal syndrome type II semapv:UnspecifiedMatching MONDO:0007874 trichorhinophalangeal syndrome type II skos:exactMatch MEDGEN:6009 semapv:UnspecifiedMatching MONDO:0007874 trichorhinophalangeal syndrome type II skos:exactMatch NCIT:C75118 Trichorhinophalangeal Syndrome Type II semapv:UnspecifiedMatching MONDO:0007874 trichorhinophalangeal syndrome type II skos:exactMatch OMIM:150230 trichorhinophalangeal syndrome, type 2 semapv:UnspecifiedMatching MONDO:0007874 trichorhinophalangeal syndrome type II skos:exactMatch Orphanet:502 Trichorhinophalangeal syndrome type 2 semapv:UnspecifiedMatching MONDO:0007874 trichorhinophalangeal syndrome type II skos:exactMatch SCTID:41069008 semapv:UnspecifiedMatching MONDO:0007874 trichorhinophalangeal syndrome type II skos:exactMatch UMLS:C0023003 semapv:UnspecifiedMatching MONDO:0007874 trichorhinophalangeal syndrome type II skos:exactMatch icd11.foundation:315453775 Langer-Giedion syndrome semapv:UnspecifiedMatching MONDO:0007874 trichorhinophalangeal syndrome type II skos:exactMatch mesh:D015826 semapv:UnspecifiedMatching MONDO:0007875 Larsen syndrome skos:exactMatch DOID:14764 Larsen syndrome semapv:UnspecifiedMatching MONDO:0007875 Larsen syndrome skos:exactMatch MEDGEN:104500 semapv:UnspecifiedMatching MONDO:0007875 Larsen syndrome skos:exactMatch OMIM:150250 larsen syndrome semapv:UnspecifiedMatching MONDO:0007875 Larsen syndrome skos:exactMatch Orphanet:503 Larsen syndrome semapv:UnspecifiedMatching MONDO:0007875 Larsen syndrome skos:exactMatch SCTID:63387002 semapv:UnspecifiedMatching MONDO:0007875 Larsen syndrome skos:exactMatch UMLS:C0175778 semapv:UnspecifiedMatching MONDO:0007875 Larsen syndrome skos:exactMatch icd11.foundation:607849551 Larsen syndrome semapv:UnspecifiedMatching MONDO:0007875 Larsen syndrome skos:exactMatch mesh:C580241 semapv:UnspecifiedMatching MONDO:0007876 laryngeal abductor paralysis skos:exactMatch MEDGEN:96004 semapv:UnspecifiedMatching MONDO:0007876 laryngeal abductor paralysis skos:exactMatch OMIM:150260 laryngeal abductor paralysis semapv:UnspecifiedMatching MONDO:0007876 laryngeal abductor paralysis skos:exactMatch Orphanet:2808 Laryngeal abductor paralysis semapv:UnspecifiedMatching MONDO:0007876 laryngeal abductor paralysis skos:exactMatch SCTID:232442001 semapv:UnspecifiedMatching MONDO:0007876 laryngeal abductor paralysis skos:exactMatch UMLS:C0396059 semapv:UnspecifiedMatching MONDO:0007876 laryngeal abductor paralysis skos:exactMatch icd11.foundation:965049946 Laryngeal abductor paralysis semapv:UnspecifiedMatching MONDO:0007877 laryngeal adductor paralysis skos:exactMatch MEDGEN:140759 semapv:UnspecifiedMatching MONDO:0007877 laryngeal adductor paralysis skos:exactMatch OMIM:150270 laryngeal adductor paralysis semapv:UnspecifiedMatching MONDO:0007877 laryngeal adductor paralysis skos:exactMatch UMLS:C0396060 semapv:UnspecifiedMatching MONDO:0007877 laryngeal adductor paralysis skos:exactMatch mesh:C562861 semapv:UnspecifiedMatching MONDO:0007878 congenital laryngomalacia skos:exactMatch DOID:0080833 laryngomalacia semapv:UnspecifiedMatching MONDO:0007878 congenital laryngomalacia skos:exactMatch ICD10CM:Q31.5 Congenital laryngomalacia semapv:UnspecifiedMatching MONDO:0007878 congenital laryngomalacia skos:exactMatch MEDGEN:120500 semapv:UnspecifiedMatching MONDO:0007878 congenital laryngomalacia skos:exactMatch NCIT:C98971 Laryngomalacia semapv:UnspecifiedMatching MONDO:0007878 congenital laryngomalacia skos:exactMatch OMIM:150280 laryngomalacia semapv:UnspecifiedMatching MONDO:0007878 congenital laryngomalacia skos:exactMatch Orphanet:2373 Congenital laryngomalacia semapv:UnspecifiedMatching MONDO:0007878 congenital laryngomalacia skos:exactMatch SCTID:253737007 semapv:UnspecifiedMatching MONDO:0007878 congenital laryngomalacia skos:exactMatch UMLS:C0264303 semapv:UnspecifiedMatching MONDO:0007878 congenital laryngomalacia skos:exactMatch icd11.foundation:64182721 Congenital laryngomalacia semapv:UnspecifiedMatching MONDO:0007878 congenital laryngomalacia skos:exactMatch mesh:D055092 semapv:UnspecifiedMatching MONDO:0007879 larynx atresia skos:exactMatch MEDGEN:78572 semapv:UnspecifiedMatching MONDO:0007879 larynx atresia skos:exactMatch NCIT:C98972 Laryngeal Atresia semapv:UnspecifiedMatching MONDO:0007879 larynx atresia skos:exactMatch OMIM:150300 larynx, congenital partial atresia of semapv:UnspecifiedMatching MONDO:0007879 larynx atresia skos:exactMatch Orphanet:1202 Larynx atresia semapv:UnspecifiedMatching MONDO:0007879 larynx atresia skos:exactMatch SCTID:64981002 semapv:UnspecifiedMatching MONDO:0007879 larynx atresia skos:exactMatch UMLS:C0265756 semapv:UnspecifiedMatching MONDO:0007879 larynx atresia skos:exactMatch mesh:C563637 semapv:UnspecifiedMatching MONDO:0007880 congenital laryngeal web skos:exactMatch MEDGEN:372058 semapv:UnspecifiedMatching MONDO:0007880 congenital laryngeal web skos:exactMatch NCIT:C98970 Laryngeal Web semapv:UnspecifiedMatching MONDO:0007880 congenital laryngeal web skos:exactMatch OMIM:150360 laryngeal web, familial semapv:UnspecifiedMatching MONDO:0007880 congenital laryngeal web skos:exactMatch Orphanet:2374 Isolated congenital laryngeal web semapv:UnspecifiedMatching MONDO:0007880 congenital laryngeal web skos:exactMatch SCTID:444921008 semapv:UnspecifiedMatching MONDO:0007880 congenital laryngeal web skos:exactMatch UMLS:C1835494 semapv:UnspecifiedMatching MONDO:0007880 congenital laryngeal web skos:exactMatch icd11.foundation:1641764672 Congenital laryngeal web semapv:UnspecifiedMatching MONDO:0007880 congenital laryngeal web skos:exactMatch mesh:C537676 semapv:UnspecifiedMatching MONDO:0007880 congenital laryngeal web skos:exactMatch mesh:C563636 semapv:UnspecifiedMatching MONDO:0007881 tooth agenesis, selective, 4 skos:exactMatch MEDGEN:372057 semapv:UnspecifiedMatching MONDO:0007881 tooth agenesis, selective, 4 skos:exactMatch OMIM:150400 tooth agenesis, selective, 4 semapv:UnspecifiedMatching MONDO:0007881 tooth agenesis, selective, 4 skos:exactMatch UMLS:C1835492 semapv:UnspecifiedMatching MONDO:0007881 tooth agenesis, selective, 4 skos:exactMatch mesh:C563634 semapv:UnspecifiedMatching MONDO:0007882 lattice degeneration of retina leading to retinal detachment skos:exactMatch MEDGEN:331989 semapv:UnspecifiedMatching MONDO:0007882 lattice degeneration of retina leading to retinal detachment skos:exactMatch OMIM:150500 lattice degeneration of retina leading to retinal detachment semapv:UnspecifiedMatching MONDO:0007882 lattice degeneration of retina leading to retinal detachment skos:exactMatch UMLS:C1835491 semapv:UnspecifiedMatching MONDO:0007882 lattice degeneration of retina leading to retinal detachment skos:exactMatch mesh:C563633 semapv:UnspecifiedMatching MONDO:0007883 periodic fever, immunodeficiency, and thrombocytopenia syndrome skos:exactMatch MEDGEN:78795 semapv:UnspecifiedMatching MONDO:0007883 periodic fever, immunodeficiency, and thrombocytopenia syndrome skos:exactMatch OMIM:150550 periodic fever, immunodeficiency, and thrombocytopenia syndrome semapv:UnspecifiedMatching MONDO:0007883 periodic fever, immunodeficiency, and thrombocytopenia syndrome skos:exactMatch Orphanet:652522 Periodic fever-immunodeficiency-thrombocytopenia syndrome semapv:UnspecifiedMatching MONDO:0007883 periodic fever, immunodeficiency, and thrombocytopenia syndrome skos:exactMatch SCTID:71436005 semapv:UnspecifiedMatching MONDO:0007883 periodic fever, immunodeficiency, and thrombocytopenia syndrome skos:exactMatch UMLS:C0272174 semapv:UnspecifiedMatching MONDO:0007883 periodic fever, immunodeficiency, and thrombocytopenia syndrome skos:exactMatch mesh:C562721 semapv:UnspecifiedMatching MONDO:0007884 leg ulcers, familial, of juvenile onset skos:exactMatch MEDGEN:322673 semapv:UnspecifiedMatching MONDO:0007884 leg ulcers, familial, of juvenile onset skos:exactMatch OMIM:150590 leg ulcers, familial, of juvenile onset semapv:UnspecifiedMatching MONDO:0007884 leg ulcers, familial, of juvenile onset skos:exactMatch UMLS:C1835489 semapv:UnspecifiedMatching MONDO:0007884 leg ulcers, familial, of juvenile onset skos:exactMatch mesh:C563632 semapv:UnspecifiedMatching MONDO:0007885 Legg-Calve-Perthes disease skos:exactMatch DOID:14415 Legg-Calve-Perthes disease semapv:UnspecifiedMatching MONDO:0007885 Legg-Calve-Perthes disease skos:exactMatch MEDGEN:730669 semapv:UnspecifiedMatching MONDO:0007885 Legg-Calve-Perthes disease skos:exactMatch NCIT:C34766 Perthes Disease semapv:UnspecifiedMatching MONDO:0007885 Legg-Calve-Perthes disease skos:exactMatch OMIM:150600 legg-calve-perthes disease semapv:UnspecifiedMatching MONDO:0007885 Legg-Calve-Perthes disease skos:exactMatch Orphanet:2380 Legg-Calvé-Perthes disease semapv:UnspecifiedMatching MONDO:0007885 Legg-Calve-Perthes disease skos:exactMatch SCTID:15739006 semapv:UnspecifiedMatching MONDO:0007885 Legg-Calve-Perthes disease skos:exactMatch UMLS:C1442965 semapv:UnspecifiedMatching MONDO:0007885 Legg-Calve-Perthes disease skos:exactMatch mesh:D007873 semapv:UnspecifiedMatching MONDO:0007886 uterine corpus leiomyoma skos:exactMatch DOID:13223 uterine fibroid semapv:UnspecifiedMatching MONDO:0007886 uterine corpus leiomyoma skos:exactMatch EFO:0000731 semapv:UnspecifiedMatching MONDO:0007886 uterine corpus leiomyoma skos:exactMatch ICD10CM:D25 Leiomyoma of uterus semapv:UnspecifiedMatching MONDO:0007886 uterine corpus leiomyoma skos:exactMatch MEDGEN:21801 semapv:UnspecifiedMatching MONDO:0007886 uterine corpus leiomyoma skos:exactMatch NCIT:C3434 Uterine Corpus Leiomyoma semapv:UnspecifiedMatching MONDO:0007886 uterine corpus leiomyoma skos:exactMatch OMIM:150699 leiomyoma, uterine semapv:UnspecifiedMatching MONDO:0007886 uterine corpus leiomyoma skos:exactMatch SCTID:95315005 semapv:UnspecifiedMatching MONDO:0007886 uterine corpus leiomyoma skos:exactMatch UMLS:C0042133 semapv:UnspecifiedMatching MONDO:0007887 leiomyoma of vulva and esophagus skos:exactMatch MEDGEN:320616 semapv:UnspecifiedMatching MONDO:0007887 leiomyoma of vulva and esophagus skos:exactMatch OMIM:150700 leiomyoma of vulva and esophagus semapv:UnspecifiedMatching MONDO:0007887 leiomyoma of vulva and esophagus skos:exactMatch UMLS:C1835488 semapv:UnspecifiedMatching MONDO:0007887 leiomyoma of vulva and esophagus skos:exactMatch mesh:C537006 semapv:UnspecifiedMatching MONDO:0007888 hereditary leiomyomatosis and renal cell cancer skos:exactMatch MEDGEN:353771 semapv:UnspecifiedMatching MONDO:0007888 hereditary leiomyomatosis and renal cell cancer skos:exactMatch NCIT:C51302 Hereditary Leiomyomatosis and Renal Cell Carcinoma semapv:UnspecifiedMatching MONDO:0007888 hereditary leiomyomatosis and renal cell cancer skos:exactMatch OMIM:150800 hereditary leiomyomatosis and renal cell cancer semapv:UnspecifiedMatching MONDO:0007888 hereditary leiomyomatosis and renal cell cancer skos:exactMatch Orphanet:523 Hereditary leiomyomatosis and renal cell cancer semapv:UnspecifiedMatching MONDO:0007888 hereditary leiomyomatosis and renal cell cancer skos:exactMatch UMLS:C1708350 semapv:UnspecifiedMatching MONDO:0007888 hereditary leiomyomatosis and renal cell cancer skos:exactMatch icd11.foundation:754002573 Hereditary leiomyomatosis and renal cell cancer semapv:UnspecifiedMatching MONDO:0007888 hereditary leiomyomatosis and renal cell cancer skos:exactMatch mesh:C535516 semapv:UnspecifiedMatching MONDO:0007890 lentiginosis, centrofacial neurodysraphic skos:exactMatch MEDGEN:372055 semapv:UnspecifiedMatching MONDO:0007890 lentiginosis, centrofacial neurodysraphic skos:exactMatch OMIM:151000 lentiginosis, centrofacial neurodysraphic semapv:UnspecifiedMatching MONDO:0007890 lentiginosis, centrofacial neurodysraphic skos:exactMatch UMLS:C1835484 semapv:UnspecifiedMatching MONDO:0007890 lentiginosis, centrofacial neurodysraphic skos:exactMatch mesh:C563630 semapv:UnspecifiedMatching MONDO:0007891 familial generalized lentiginosis skos:exactMatch MEDGEN:486897 semapv:UnspecifiedMatching MONDO:0007891 familial generalized lentiginosis skos:exactMatch OMIM:151001 lentiginosis, inherited patterned semapv:UnspecifiedMatching MONDO:0007891 familial generalized lentiginosis skos:exactMatch Orphanet:231040 Familial generalized lentiginosis semapv:UnspecifiedMatching MONDO:0007891 familial generalized lentiginosis skos:exactMatch SCTID:765195000 semapv:UnspecifiedMatching MONDO:0007891 familial generalized lentiginosis skos:exactMatch UMLS:C3492944 semapv:UnspecifiedMatching MONDO:0007891 familial generalized lentiginosis skos:exactMatch mesh:C573023 semapv:UnspecifiedMatching MONDO:0007892 Lenz-Majewski hyperostotic dwarfism skos:exactMatch DOID:0111507 Lenz-Majewski hyperostotic dwarfism semapv:UnspecifiedMatching MONDO:0007892 Lenz-Majewski hyperostotic dwarfism skos:exactMatch MEDGEN:98483 semapv:UnspecifiedMatching MONDO:0007892 Lenz-Majewski hyperostotic dwarfism skos:exactMatch OMIM:151050 lenz-majewski hyperostotic dwarfism semapv:UnspecifiedMatching MONDO:0007892 Lenz-Majewski hyperostotic dwarfism skos:exactMatch Orphanet:2658 Lenz-Majewski hyperostotic dwarfism semapv:UnspecifiedMatching MONDO:0007892 Lenz-Majewski hyperostotic dwarfism skos:exactMatch UMLS:C0432269 semapv:UnspecifiedMatching MONDO:0007892 Lenz-Majewski hyperostotic dwarfism skos:exactMatch icd11.foundation:1509425242 Lenz-Majewski hyperostotic dwarfism semapv:UnspecifiedMatching MONDO:0007892 Lenz-Majewski hyperostotic dwarfism skos:exactMatch mesh:C537115 semapv:UnspecifiedMatching MONDO:0007893 Noonan syndrome with multiple lentigines skos:exactMatch DOID:14291 Noonan syndrome with multiple lentigines semapv:UnspecifiedMatching MONDO:0007893 Noonan syndrome with multiple lentigines skos:exactMatch MEDGEN:104494 semapv:UnspecifiedMatching MONDO:0007893 Noonan syndrome with multiple lentigines skos:exactMatch NCIT:C84820 LEOPARD Syndrome semapv:UnspecifiedMatching MONDO:0007893 Noonan syndrome with multiple lentigines skos:exactMatch OMIMPS:151100 LEOPARD syndrome semapv:UnspecifiedMatching MONDO:0007893 Noonan syndrome with multiple lentigines skos:exactMatch Orphanet:500 Noonan syndrome with multiple lentigines semapv:UnspecifiedMatching MONDO:0007893 Noonan syndrome with multiple lentigines skos:exactMatch SCTID:111306001 semapv:UnspecifiedMatching MONDO:0007893 Noonan syndrome with multiple lentigines skos:exactMatch UMLS:C0175704 semapv:UnspecifiedMatching MONDO:0007893 Noonan syndrome with multiple lentigines skos:exactMatch icd11.foundation:939197023 LEOPARD syndrome semapv:UnspecifiedMatching MONDO:0007893 Noonan syndrome with multiple lentigines skos:exactMatch mesh:D044542 semapv:UnspecifiedMatching MONDO:0007894 Leri pleonosteosis skos:exactMatch MEDGEN:331978 semapv:UnspecifiedMatching MONDO:0007894 Leri pleonosteosis skos:exactMatch OMIM:151200 chromosome 8q22.1 duplication syndrome semapv:UnspecifiedMatching MONDO:0007894 Leri pleonosteosis skos:exactMatch Orphanet:2900 Leri pleonosteosis semapv:UnspecifiedMatching MONDO:0007894 Leri pleonosteosis skos:exactMatch UMLS:C1835450 semapv:UnspecifiedMatching MONDO:0007894 Leri pleonosteosis skos:exactMatch mesh:C537118 semapv:UnspecifiedMatching MONDO:0007895 platyspondylic dysplasia, Torrance type skos:exactMatch DOID:0111508 Torrance type platyspondylic dysplasia semapv:UnspecifiedMatching MONDO:0007895 platyspondylic dysplasia, Torrance type skos:exactMatch MEDGEN:331974 semapv:UnspecifiedMatching MONDO:0007895 platyspondylic dysplasia, Torrance type skos:exactMatch OMIM:151210 platyspondylic lethal skeletal dysplasia, torrance type semapv:UnspecifiedMatching MONDO:0007895 platyspondylic dysplasia, Torrance type skos:exactMatch Orphanet:85166 Platyspondylic dysplasia, Torrance type semapv:UnspecifiedMatching MONDO:0007895 platyspondylic dysplasia, Torrance type skos:exactMatch UMLS:C1835437 semapv:UnspecifiedMatching MONDO:0007895 platyspondylic dysplasia, Torrance type skos:exactMatch icd11.foundation:263213426 Platyspondylic dysplasia, Torrance type semapv:UnspecifiedMatching MONDO:0007895 platyspondylic dysplasia, Torrance type skos:exactMatch mesh:C563627 semapv:UnspecifiedMatching MONDO:0007896 acute monocytic leukemia skos:exactMatch DOID:8864 acute monocytic leukemia semapv:UnspecifiedMatching MONDO:0007896 acute monocytic leukemia skos:exactMatch EFO:0000221 semapv:UnspecifiedMatching MONDO:0007896 acute monocytic leukemia skos:exactMatch ICD10CM:C93.0 Acute monoblastic/monocytic leukemia semapv:UnspecifiedMatching MONDO:0007896 acute monocytic leukemia skos:exactMatch MEDGEN:7319 semapv:UnspecifiedMatching MONDO:0007896 acute monocytic leukemia skos:exactMatch NCIT:C4861 Acute Monocytic Leukemia semapv:UnspecifiedMatching MONDO:0007896 acute monocytic leukemia skos:exactMatch OMIM:151380 leukemia, acute monocytic semapv:UnspecifiedMatching MONDO:0007896 acute monocytic leukemia skos:exactMatch Orphanet:514 Acute monoblastic/monocytic leukemia semapv:UnspecifiedMatching MONDO:0007896 acute monocytic leukemia skos:exactMatch SCTID:413441006 semapv:UnspecifiedMatching MONDO:0007896 acute monocytic leukemia skos:exactMatch UMLS:C0023465 semapv:UnspecifiedMatching MONDO:0007896 acute monocytic leukemia skos:exactMatch icd11.foundation:517546180 Acute monoblastic or monocytic leukaemia semapv:UnspecifiedMatching MONDO:0007896 acute monocytic leukemia skos:exactMatch mesh:D007948 semapv:UnspecifiedMatching MONDO:0007898 leukocyte nuclear appendages, hereditary prevalence of skos:exactMatch MEDGEN:320594 semapv:UnspecifiedMatching MONDO:0007898 leukocyte nuclear appendages, hereditary prevalence of skos:exactMatch OMIM:151500 leukocyte nuclear appendages, hereditary prevalence of semapv:UnspecifiedMatching MONDO:0007898 leukocyte nuclear appendages, hereditary prevalence of skos:exactMatch UMLS:C1835405 semapv:UnspecifiedMatching MONDO:0007898 leukocyte nuclear appendages, hereditary prevalence of skos:exactMatch mesh:C563626 semapv:UnspecifiedMatching MONDO:0007899 lichen sclerosus et atrophicus skos:exactMatch ICD10CM:L90.0 Lichen sclerosus et atrophicus semapv:UnspecifiedMatching MONDO:0007899 lichen sclerosus et atrophicus skos:exactMatch MEDGEN:7338 semapv:UnspecifiedMatching MONDO:0007899 lichen sclerosus et atrophicus skos:exactMatch NCIT:C26817 Lichen Sclerosus et Atrophicus semapv:UnspecifiedMatching MONDO:0007899 lichen sclerosus et atrophicus skos:exactMatch OMIM:151590 lichen sclerosus et atrophicus semapv:UnspecifiedMatching MONDO:0007899 lichen sclerosus et atrophicus skos:exactMatch SCTID:25674000 semapv:UnspecifiedMatching MONDO:0007899 lichen sclerosus et atrophicus skos:exactMatch UMLS:C0023652 semapv:UnspecifiedMatching MONDO:0007899 lichen sclerosus et atrophicus skos:exactMatch mesh:D018459 semapv:UnspecifiedMatching MONDO:0007900 nonsyndromic congenital nail disorder 3 skos:exactMatch DOID:0080081 nonsyndromic congenital nail disorder 3 semapv:UnspecifiedMatching MONDO:0007900 nonsyndromic congenital nail disorder 3 skos:exactMatch MEDGEN:107463 semapv:UnspecifiedMatching MONDO:0007900 nonsyndromic congenital nail disorder 3 skos:exactMatch OMIM:151600 nail disorder, nonsyndromic congenital, 3 semapv:UnspecifiedMatching MONDO:0007900 nonsyndromic congenital nail disorder 3 skos:exactMatch SCTID:74102009 semapv:UnspecifiedMatching MONDO:0007900 nonsyndromic congenital nail disorder 3 skos:exactMatch UMLS:C0544855 semapv:UnspecifiedMatching MONDO:0007900 nonsyndromic congenital nail disorder 3 skos:exactMatch mesh:C537289 semapv:UnspecifiedMatching MONDO:0007901 levator-medial rectus synkinesis skos:exactMatch MEDGEN:320592 semapv:UnspecifiedMatching MONDO:0007901 levator-medial rectus synkinesis skos:exactMatch OMIM:151610 oculomotor-levator synkinesis semapv:UnspecifiedMatching MONDO:0007901 levator-medial rectus synkinesis skos:exactMatch UMLS:C1835403 semapv:UnspecifiedMatching MONDO:0007901 levator-medial rectus synkinesis skos:exactMatch mesh:C563625 semapv:UnspecifiedMatching MONDO:0007902 lichen planus, familial skos:exactMatch MEDGEN:372036 semapv:UnspecifiedMatching MONDO:0007902 lichen planus, familial skos:exactMatch OMIM:151620 lichen planus, familial semapv:UnspecifiedMatching MONDO:0007902 lichen planus, familial skos:exactMatch UMLS:C1835402 semapv:UnspecifiedMatching MONDO:0007902 lichen planus, familial skos:exactMatch mesh:C563624 semapv:UnspecifiedMatching MONDO:0007904 median nodule of the upper lip skos:exactMatch MEDGEN:372034 semapv:UnspecifiedMatching MONDO:0007904 median nodule of the upper lip skos:exactMatch OMIM:151630 lip, median nodule of upper semapv:UnspecifiedMatching MONDO:0007904 median nodule of the upper lip skos:exactMatch Orphanet:2699 Median nodule of the upper lip semapv:UnspecifiedMatching MONDO:0007904 median nodule of the upper lip skos:exactMatch SCTID:722034006 semapv:UnspecifiedMatching MONDO:0007904 median nodule of the upper lip skos:exactMatch UMLS:C1835396 semapv:UnspecifiedMatching MONDO:0007905 lip, hamartomatous skos:exactMatch MEDGEN:331965 semapv:UnspecifiedMatching MONDO:0007905 lip, hamartomatous skos:exactMatch OMIM:151640 lip, hamartomatous semapv:UnspecifiedMatching MONDO:0007905 lip, hamartomatous skos:exactMatch UMLS:C1835395 semapv:UnspecifiedMatching MONDO:0007905 lip, hamartomatous skos:exactMatch mesh:C563621 semapv:UnspecifiedMatching MONDO:0007906 familial partial lipodystrophy, Dunnigan type skos:exactMatch DOID:0070202 familial partial lipodystrophy type 2 semapv:UnspecifiedMatching MONDO:0007906 familial partial lipodystrophy, Dunnigan type skos:exactMatch MEDGEN:354526 semapv:UnspecifiedMatching MONDO:0007906 familial partial lipodystrophy, Dunnigan type skos:exactMatch OMIM:151660 lipodystrophy, familial partial, type 2 semapv:UnspecifiedMatching MONDO:0007906 familial partial lipodystrophy, Dunnigan type skos:exactMatch Orphanet:2348 Familial partial lipodystrophy, Dunnigan type semapv:UnspecifiedMatching MONDO:0007906 familial partial lipodystrophy, Dunnigan type skos:exactMatch SCTID:715439000 semapv:UnspecifiedMatching MONDO:0007906 familial partial lipodystrophy, Dunnigan type skos:exactMatch UMLS:C1720860 semapv:UnspecifiedMatching MONDO:0007906 familial partial lipodystrophy, Dunnigan type skos:exactMatch icd11.foundation:2068585355 Familial partial lipodystrophy, Dunnigan type semapv:UnspecifiedMatching MONDO:0007907 lipoma of the conjunctiva skos:exactMatch MEDGEN:372030 semapv:UnspecifiedMatching MONDO:0007907 lipoma of the conjunctiva skos:exactMatch OMIM:151700 lipoma of the conjunctiva semapv:UnspecifiedMatching MONDO:0007907 lipoma of the conjunctiva skos:exactMatch UMLS:C1835373 semapv:UnspecifiedMatching MONDO:0007907 lipoma of the conjunctiva skos:exactMatch mesh:C563620 semapv:UnspecifiedMatching MONDO:0007908 multiple symmetric lipomatosis skos:exactMatch DOID:14116 multiple symmetric lipomatosis semapv:UnspecifiedMatching MONDO:0007908 multiple symmetric lipomatosis skos:exactMatch EFO:1000737 semapv:UnspecifiedMatching MONDO:0007908 multiple symmetric lipomatosis skos:exactMatch MEDGEN:7349 semapv:UnspecifiedMatching MONDO:0007908 multiple symmetric lipomatosis skos:exactMatch NCIT:C4392 Cervical Symmetrical Lipomatosis semapv:UnspecifiedMatching MONDO:0007908 multiple symmetric lipomatosis skos:exactMatch OMIM:151800 lipomatosis, multiple symmetric, with or without axonal peripheral neuropathy semapv:UnspecifiedMatching MONDO:0007908 multiple symmetric lipomatosis skos:exactMatch Orphanet:2398 Multiple symmetric lipomatosis semapv:UnspecifiedMatching MONDO:0007908 multiple symmetric lipomatosis skos:exactMatch SCTID:238902007 semapv:UnspecifiedMatching MONDO:0007908 multiple symmetric lipomatosis skos:exactMatch UMLS:C0023804 semapv:UnspecifiedMatching MONDO:0007909 familial multiple lipomatosis skos:exactMatch DOID:0070518 familial multiple lipomatosis semapv:UnspecifiedMatching MONDO:0007909 familial multiple lipomatosis skos:exactMatch MEDGEN:698553 semapv:UnspecifiedMatching MONDO:0007909 familial multiple lipomatosis skos:exactMatch OMIM:151900 lipomatosis, familial multiple semapv:UnspecifiedMatching MONDO:0007909 familial multiple lipomatosis skos:exactMatch Orphanet:199276 Familial multiple lipomatosis semapv:UnspecifiedMatching MONDO:0007909 familial multiple lipomatosis skos:exactMatch SCTID:766888002 semapv:UnspecifiedMatching MONDO:0007909 familial multiple lipomatosis skos:exactMatch UMLS:C1275273 semapv:UnspecifiedMatching MONDO:0007909 familial multiple lipomatosis skos:exactMatch mesh:D000071070 semapv:UnspecifiedMatching MONDO:0007910 lipoprotein types--Lt system skos:exactMatch MEDGEN:322644 semapv:UnspecifiedMatching MONDO:0007910 lipoprotein types--Lt system skos:exactMatch OMIM:152300 lipoprotein types--lt system semapv:UnspecifiedMatching MONDO:0007910 lipoprotein types--Lt system skos:exactMatch UMLS:C1835359 semapv:UnspecifiedMatching MONDO:0007911 lipoprotein, variant of beta skos:exactMatch MEDGEN:322642 semapv:UnspecifiedMatching MONDO:0007911 lipoprotein, variant of beta skos:exactMatch OMIM:152400 lipoprotein, variant of beta semapv:UnspecifiedMatching MONDO:0007911 lipoprotein, variant of beta skos:exactMatch UMLS:C1835357 semapv:UnspecifiedMatching MONDO:0007912 lithium transport skos:exactMatch MEDGEN:331956 semapv:UnspecifiedMatching MONDO:0007912 lithium transport skos:exactMatch OMIM:152420 lithium transport semapv:UnspecifiedMatching MONDO:0007912 lithium transport skos:exactMatch UMLS:C1835356 semapv:UnspecifiedMatching MONDO:0007913 low density lipoprotein, variation in molecular weight of skos:exactMatch MEDGEN:322635 semapv:UnspecifiedMatching MONDO:0007913 low density lipoprotein, variation in molecular weight of skos:exactMatch OMIM:152450 low density lipoprotein, variation 1n molecular weight of semapv:UnspecifiedMatching MONDO:0007913 low density lipoprotein, variation in molecular weight of skos:exactMatch UMLS:C1835321 semapv:UnspecifiedMatching MONDO:0007914 lumbar stenosis, familial skos:exactMatch MEDGEN:372016 semapv:UnspecifiedMatching MONDO:0007914 lumbar stenosis, familial skos:exactMatch OMIM:152550 lumbar stenosis, familial semapv:UnspecifiedMatching MONDO:0007914 lumbar stenosis, familial skos:exactMatch UMLS:C1835320 semapv:UnspecifiedMatching MONDO:0007914 lumbar stenosis, familial skos:exactMatch mesh:C563613 semapv:UnspecifiedMatching MONDO:0007915 systemic lupus erythematosus skos:exactMatch DOID:9074 systemic lupus erythematosus semapv:UnspecifiedMatching MONDO:0007915 systemic lupus erythematosus skos:exactMatch ICD10CM:M32 Systemic lupus erythematosus (SLE) semapv:UnspecifiedMatching MONDO:0007915 systemic lupus erythematosus skos:exactMatch ICD10WHO:M32 Systemic lupus erythematosus semapv:UnspecifiedMatching MONDO:0007915 systemic lupus erythematosus skos:exactMatch MEDGEN:6146 semapv:UnspecifiedMatching MONDO:0007915 systemic lupus erythematosus skos:exactMatch NCIT:C3201 Systemic Lupus Erythematosus semapv:UnspecifiedMatching MONDO:0007915 systemic lupus erythematosus skos:exactMatch OMIM:152700 systemic lupus erythematosus semapv:UnspecifiedMatching MONDO:0007915 systemic lupus erythematosus skos:exactMatch OMIMPS:601744 Systemic lupus erythematosus semapv:UnspecifiedMatching MONDO:0007915 systemic lupus erythematosus skos:exactMatch Orphanet:536 Systemic lupus erythematosus semapv:UnspecifiedMatching MONDO:0007915 systemic lupus erythematosus skos:exactMatch SCTID:55464009 semapv:UnspecifiedMatching MONDO:0007915 systemic lupus erythematosus skos:exactMatch UMLS:C0024141 semapv:UnspecifiedMatching MONDO:0007915 systemic lupus erythematosus skos:exactMatch icd11.foundation:749596428 Systemic lupus erythematosus semapv:UnspecifiedMatching MONDO:0007915 systemic lupus erythematosus skos:exactMatch mesh:D008180 semapv:UnspecifiedMatching MONDO:0007916 primary intestinal lymphangiectasia skos:exactMatch MEDGEN:444009 semapv:UnspecifiedMatching MONDO:0007916 primary intestinal lymphangiectasia skos:exactMatch OMIM:152800 lymphangiectasia, intestinal semapv:UnspecifiedMatching MONDO:0007916 primary intestinal lymphangiectasia skos:exactMatch Orphanet:90362 Primary intestinal lymphangiectasia semapv:UnspecifiedMatching MONDO:0007916 primary intestinal lymphangiectasia skos:exactMatch SCTID:6124009 semapv:UnspecifiedMatching MONDO:0007916 primary intestinal lymphangiectasia skos:exactMatch UMLS:C2931241 semapv:UnspecifiedMatching MONDO:0007916 primary intestinal lymphangiectasia skos:exactMatch icd11.foundation:52162548 Primary intestinal lymphangiectasia semapv:UnspecifiedMatching MONDO:0007917 lymphedema-cerebral arteriovenous anomaly syndrome skos:exactMatch MEDGEN:322617 semapv:UnspecifiedMatching MONDO:0007917 lymphedema-cerebral arteriovenous anomaly syndrome skos:exactMatch OMIM:152900 lymphedema and cerebral arteriovenous anomaly semapv:UnspecifiedMatching MONDO:0007917 lymphedema-cerebral arteriovenous anomaly syndrome skos:exactMatch Orphanet:86914 Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome semapv:UnspecifiedMatching MONDO:0007917 lymphedema-cerebral arteriovenous anomaly syndrome skos:exactMatch UMLS:C1835272 semapv:UnspecifiedMatching MONDO:0007917 lymphedema-cerebral arteriovenous anomaly syndrome skos:exactMatch mesh:C563612 semapv:UnspecifiedMatching MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability skos:exactMatch DOID:0060349 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation semapv:UnspecifiedMatching MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability skos:exactMatch MEDGEN:320559 semapv:UnspecifiedMatching MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability skos:exactMatch OMIM:152950 microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development semapv:UnspecifiedMatching MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability skos:exactMatch Orphanet:2526 Microcephaly-lymphedema-chorioretinopathy syndrome semapv:UnspecifiedMatching MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability skos:exactMatch UMLS:C1835265 semapv:UnspecifiedMatching MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability skos:exactMatch mesh:C537711 semapv:UnspecifiedMatching MONDO:0007919 lymphatic malformation 1 skos:exactMatch DOID:0070210 hereditary lymphedema IA semapv:UnspecifiedMatching MONDO:0007919 lymphatic malformation 1 skos:exactMatch DOID:0070212 hereditary lymphedema I semapv:UnspecifiedMatching MONDO:0007919 lymphatic malformation 1 skos:exactMatch MEDGEN:309963 semapv:UnspecifiedMatching MONDO:0007919 lymphatic malformation 1 skos:exactMatch OMIM:153100 lymphatic malformation 1 semapv:UnspecifiedMatching MONDO:0007919 lymphatic malformation 1 skos:exactMatch Orphanet:79452 Milroy disease semapv:UnspecifiedMatching MONDO:0007919 lymphatic malformation 1 skos:exactMatch SCTID:399889006 semapv:UnspecifiedMatching MONDO:0007919 lymphatic malformation 1 skos:exactMatch UMLS:C1704423 semapv:UnspecifiedMatching MONDO:0007920 lymphatic malformation 5 skos:exactMatch DOID:0070213 hereditary lymphedema II semapv:UnspecifiedMatching MONDO:0007920 lymphatic malformation 5 skos:exactMatch MEDGEN:1648463 semapv:UnspecifiedMatching MONDO:0007920 lymphatic malformation 5 skos:exactMatch OMIM:153200 lymphatic malformation 5 semapv:UnspecifiedMatching MONDO:0007920 lymphatic malformation 5 skos:exactMatch Orphanet:90186 Meige disease semapv:UnspecifiedMatching MONDO:0007920 lymphatic malformation 5 skos:exactMatch SCTID:400040008 semapv:UnspecifiedMatching MONDO:0007920 lymphatic malformation 5 skos:exactMatch UMLS:C4746631 semapv:UnspecifiedMatching MONDO:0007920 lymphatic malformation 5 skos:exactMatch mesh:C562467 semapv:UnspecifiedMatching MONDO:0007921 yellow nail syndrome skos:exactMatch DOID:0050468 yellow nail syndrome semapv:UnspecifiedMatching MONDO:0007921 yellow nail syndrome skos:exactMatch EFO:1001452 semapv:UnspecifiedMatching MONDO:0007921 yellow nail syndrome skos:exactMatch ICD10CM:L60.5 Yellow nail syndrome semapv:UnspecifiedMatching MONDO:0007921 yellow nail syndrome skos:exactMatch MEDGEN:113164 semapv:UnspecifiedMatching MONDO:0007921 yellow nail syndrome skos:exactMatch NCIT:C85238 Yellow Nail Syndrome semapv:UnspecifiedMatching MONDO:0007921 yellow nail syndrome skos:exactMatch OMIM:153300 yellow nail syndrome semapv:UnspecifiedMatching MONDO:0007921 yellow nail syndrome skos:exactMatch Orphanet:662 Lymphedema with yellow nails semapv:UnspecifiedMatching MONDO:0007921 yellow nail syndrome skos:exactMatch SCTID:400211001 semapv:UnspecifiedMatching MONDO:0007921 yellow nail syndrome skos:exactMatch UMLS:C0221348 semapv:UnspecifiedMatching MONDO:0007921 yellow nail syndrome skos:exactMatch icd11.foundation:47812081 Yellow nail syndrome semapv:UnspecifiedMatching MONDO:0007921 yellow nail syndrome skos:exactMatch mesh:D056684 semapv:UnspecifiedMatching MONDO:0007922 lymphedema-distichiasis syndrome skos:exactMatch DOID:0111509 lymphedema-distichiasis syndrome semapv:UnspecifiedMatching MONDO:0007922 lymphedema-distichiasis syndrome skos:exactMatch MEDGEN:75566 semapv:UnspecifiedMatching MONDO:0007922 lymphedema-distichiasis syndrome skos:exactMatch NCIT:C128191 Lymphedema-Distichiasis Syndrome semapv:UnspecifiedMatching MONDO:0007922 lymphedema-distichiasis syndrome skos:exactMatch OMIM:153400 lymphedema-distichiasis syndrome semapv:UnspecifiedMatching MONDO:0007922 lymphedema-distichiasis syndrome skos:exactMatch Orphanet:33001 Lymphedema-distichiasis syndrome semapv:UnspecifiedMatching MONDO:0007922 lymphedema-distichiasis syndrome skos:exactMatch SCTID:8634009 semapv:UnspecifiedMatching MONDO:0007922 lymphedema-distichiasis syndrome skos:exactMatch UMLS:C0265345 semapv:UnspecifiedMatching MONDO:0007922 lymphedema-distichiasis syndrome skos:exactMatch mesh:C537710 semapv:UnspecifiedMatching MONDO:0007923 macrocephaly, benign familial skos:exactMatch MEDGEN:113101 semapv:UnspecifiedMatching MONDO:0007923 macrocephaly, benign familial skos:exactMatch OMIM:153470 macrocephaly, benign familial semapv:UnspecifiedMatching MONDO:0007923 macrocephaly, benign familial skos:exactMatch UMLS:C0220690 semapv:UnspecifiedMatching MONDO:0007923 macrocephaly, benign familial skos:exactMatch mesh:C537717 semapv:UnspecifiedMatching MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome skos:exactMatch DOID:0050657 Cowden syndrome 1 semapv:UnspecifiedMatching MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome skos:exactMatch ICD10CM:E71.440 Ruvalcaba-Myhre-Smith syndrome semapv:UnspecifiedMatching MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome skos:exactMatch MEDGEN:78554 semapv:UnspecifiedMatching MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome skos:exactMatch NCIT:C3939 Bannayan-Riley-Ruvalcaba Syndrome semapv:UnspecifiedMatching MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome skos:exactMatch Orphanet:109 Bannayan-Riley-Ruvalcaba syndrome semapv:UnspecifiedMatching MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome skos:exactMatch SCTID:21984008 semapv:UnspecifiedMatching MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome skos:exactMatch UMLS:C0265326 semapv:UnspecifiedMatching MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome skos:exactMatch icd11.foundation:357383447 Bannayan-Riley-Ruvalcaba syndrome semapv:UnspecifiedMatching MONDO:0007925 myelodysplastic syndrome associated with isolated del(5q) skos:exactMatch DOID:0090016 chromosome 5q deletion syndrome semapv:UnspecifiedMatching MONDO:0007925 myelodysplastic syndrome associated with isolated del(5q) skos:exactMatch ICD10CM:D46.C Myelodysplastic syndrome with isolated del(5q) chromosomal abnormality semapv:UnspecifiedMatching MONDO:0007925 myelodysplastic syndrome associated with isolated del(5q) skos:exactMatch MEDGEN:226950 semapv:UnspecifiedMatching MONDO:0007925 myelodysplastic syndrome associated with isolated del(5q) skos:exactMatch NCIT:C6867 Myelodysplastic Syndrome with del(5q) semapv:UnspecifiedMatching MONDO:0007925 myelodysplastic syndrome associated with isolated del(5q) skos:exactMatch OMIM:153550 chromosome 5q deletion syndrome semapv:UnspecifiedMatching MONDO:0007925 myelodysplastic syndrome associated with isolated del(5q) skos:exactMatch Orphanet:86841 Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality semapv:UnspecifiedMatching MONDO:0007925 myelodysplastic syndrome associated with isolated del(5q) skos:exactMatch SCTID:277597005 semapv:UnspecifiedMatching MONDO:0007925 myelodysplastic syndrome associated with isolated del(5q) skos:exactMatch UMLS:C1292779 semapv:UnspecifiedMatching MONDO:0007925 myelodysplastic syndrome associated with isolated del(5q) skos:exactMatch icd11.foundation:420472577 Myelodysplastic syndrome with isolated del(5q) semapv:UnspecifiedMatching MONDO:0007925 myelodysplastic syndrome associated with isolated del(5q) skos:exactMatch mesh:C535323 semapv:UnspecifiedMatching MONDO:0007927 congenital macroglossia skos:exactMatch MEDGEN:3588 semapv:UnspecifiedMatching MONDO:0007927 congenital macroglossia skos:exactMatch OMIM:153630 macroglossia semapv:UnspecifiedMatching MONDO:0007927 congenital macroglossia skos:exactMatch Orphanet:2430 Congenital macroglossia semapv:UnspecifiedMatching MONDO:0007927 congenital macroglossia skos:exactMatch SCTID:270516002 semapv:UnspecifiedMatching MONDO:0007927 congenital macroglossia skos:exactMatch UMLS:C0009677 semapv:UnspecifiedMatching MONDO:0007927 congenital macroglossia skos:exactMatch icd11.foundation:423141418 Congenital macroglossia semapv:UnspecifiedMatching MONDO:0007927 congenital macroglossia skos:exactMatch mesh:C531735 semapv:UnspecifiedMatching MONDO:0007928 obsolete Fechtner syndrome skos:exactMatch NCIT:C131642 Fechtner Syndrome semapv:UnspecifiedMatching MONDO:0007929 obsolete Epstein syndrome skos:exactMatch NCIT:C131639 Epstein Syndrome semapv:UnspecifiedMatching MONDO:0007930 Bernard-Soulier syndrome, type A2, autosomal dominant skos:exactMatch DOID:0111059 Bernard-Soulier syndrome type A2 semapv:UnspecifiedMatching MONDO:0007930 Bernard-Soulier syndrome, type A2, autosomal dominant skos:exactMatch MEDGEN:478706 semapv:UnspecifiedMatching MONDO:0007930 Bernard-Soulier syndrome, type A2, autosomal dominant skos:exactMatch OMIM:153670 bernard-soulier syndrome, type a2, autosomal dominant semapv:UnspecifiedMatching MONDO:0007930 Bernard-Soulier syndrome, type A2, autosomal dominant skos:exactMatch UMLS:C3277076 semapv:UnspecifiedMatching MONDO:0007931 vitelliform macular dystrophy 2 skos:exactMatch MEDGEN:411553 semapv:UnspecifiedMatching MONDO:0007931 vitelliform macular dystrophy 2 skos:exactMatch OMIM:153700 macular dystrophy, vitelliform, 2 semapv:UnspecifiedMatching MONDO:0007931 vitelliform macular dystrophy 2 skos:exactMatch Orphanet:1243 Best vitelliform macular dystrophy semapv:UnspecifiedMatching MONDO:0007931 vitelliform macular dystrophy 2 skos:exactMatch SCTID:763387005 semapv:UnspecifiedMatching MONDO:0007931 vitelliform macular dystrophy 2 skos:exactMatch UMLS:C2745945 semapv:UnspecifiedMatching MONDO:0007932 age related macular degeneration 2 skos:exactMatch DOID:0110015 age related macular degeneration 2 semapv:UnspecifiedMatching MONDO:0007932 age related macular degeneration 2 skos:exactMatch MEDGEN:501183 semapv:UnspecifiedMatching MONDO:0007932 age related macular degeneration 2 skos:exactMatch OMIM:153800 macular degeneration, age-related, 2 semapv:UnspecifiedMatching MONDO:0007932 age related macular degeneration 2 skos:exactMatch UMLS:C3495438 semapv:UnspecifiedMatching MONDO:0007932 age related macular degeneration 2 skos:exactMatch mesh:C562479 semapv:UnspecifiedMatching MONDO:0007933 vitelliform macular dystrophy 1 skos:exactMatch MEDGEN:1636950 semapv:UnspecifiedMatching MONDO:0007933 vitelliform macular dystrophy 1 skos:exactMatch OMIM:153840 macular dystrophy, vitelliform, 1 semapv:UnspecifiedMatching MONDO:0007933 vitelliform macular dystrophy 1 skos:exactMatch UMLS:C4551953 semapv:UnspecifiedMatching MONDO:0007933 vitelliform macular dystrophy 1 skos:exactMatch mesh:C537832 semapv:UnspecifiedMatching MONDO:0007934 benign concentric annular macular dystrophy skos:exactMatch DOID:0061106 retinitis pigmentosa 91 semapv:UnspecifiedMatching MONDO:0007934 benign concentric annular macular dystrophy skos:exactMatch MEDGEN:1794135 semapv:UnspecifiedMatching MONDO:0007934 benign concentric annular macular dystrophy skos:exactMatch OMIM:153870 retinitis pigmentosa 91 semapv:UnspecifiedMatching MONDO:0007934 benign concentric annular macular dystrophy skos:exactMatch Orphanet:251287 Benign concentric annular macular dystrophy semapv:UnspecifiedMatching MONDO:0007934 benign concentric annular macular dystrophy skos:exactMatch SCTID:719520001 semapv:UnspecifiedMatching MONDO:0007934 benign concentric annular macular dystrophy skos:exactMatch UMLS:C5561925 semapv:UnspecifiedMatching MONDO:0007934 benign concentric annular macular dystrophy skos:exactMatch icd11.foundation:1839503243 Benign concentric annular macular dystrophy semapv:UnspecifiedMatching MONDO:0007934 benign concentric annular macular dystrophy skos:exactMatch mesh:C537833 semapv:UnspecifiedMatching MONDO:0007935 cystoid macular edema skos:exactMatch DOID:4447 cystoid macular edema semapv:UnspecifiedMatching MONDO:0007935 cystoid macular edema skos:exactMatch MEDGEN:7435 semapv:UnspecifiedMatching MONDO:0007935 cystoid macular edema skos:exactMatch NCIT:C34794 Cystoid Macular Edema semapv:UnspecifiedMatching MONDO:0007935 cystoid macular edema skos:exactMatch OMIM:153880 macular dystrophy, dominant cystoid semapv:UnspecifiedMatching MONDO:0007935 cystoid macular edema skos:exactMatch Orphanet:75381 Cystoid macular dystrophy semapv:UnspecifiedMatching MONDO:0007935 cystoid macular edema skos:exactMatch SCTID:312921000 semapv:UnspecifiedMatching MONDO:0007935 cystoid macular edema skos:exactMatch UMLS:C0024440 semapv:UnspecifiedMatching MONDO:0007936 macular dystrophy, fenestrated sheen type skos:exactMatch MEDGEN:331921 semapv:UnspecifiedMatching MONDO:0007936 macular dystrophy, fenestrated sheen type skos:exactMatch OMIM:153890 macular dystrophy, fenestrated sheen type semapv:UnspecifiedMatching MONDO:0007936 macular dystrophy, fenestrated sheen type skos:exactMatch UMLS:C1835173 semapv:UnspecifiedMatching MONDO:0007936 macular dystrophy, fenestrated sheen type skos:exactMatch mesh:C563607 semapv:UnspecifiedMatching MONDO:0007937 renal hypomagnesemia 2 skos:exactMatch DOID:0060885 renal hypomagnesemia 2 semapv:UnspecifiedMatching MONDO:0007937 renal hypomagnesemia 2 skos:exactMatch MEDGEN:320542 semapv:UnspecifiedMatching MONDO:0007937 renal hypomagnesemia 2 skos:exactMatch OMIM:154020 hypomagnesemia 2, renal semapv:UnspecifiedMatching MONDO:0007937 renal hypomagnesemia 2 skos:exactMatch Orphanet:34528 Autosomal dominant primary hypomagnesemia with hypocalciuria semapv:UnspecifiedMatching MONDO:0007937 renal hypomagnesemia 2 skos:exactMatch SCTID:725393000 semapv:UnspecifiedMatching MONDO:0007937 renal hypomagnesemia 2 skos:exactMatch UMLS:C1835171 semapv:UnspecifiedMatching MONDO:0007937 renal hypomagnesemia 2 skos:exactMatch mesh:C537152 semapv:UnspecifiedMatching MONDO:0007938 46,XY sex reversal 4 skos:exactMatch DOID:0111771 46,XY sex reversal 4 semapv:UnspecifiedMatching MONDO:0007938 46,XY sex reversal 4 skos:exactMatch MEDGEN:416704 semapv:UnspecifiedMatching MONDO:0007938 46,XY sex reversal 4 skos:exactMatch NCIT:C132270 46,XY Sex Reversal 4 semapv:UnspecifiedMatching MONDO:0007938 46,XY sex reversal 4 skos:exactMatch OMIM:154230 46,xy sex reversal 4 semapv:UnspecifiedMatching MONDO:0007938 46,XY sex reversal 4 skos:exactMatch UMLS:C2752149 semapv:UnspecifiedMatching MONDO:0007938 46,XY sex reversal 4 skos:exactMatch mesh:C567887 semapv:UnspecifiedMatching MONDO:0007939 malignant hyperthermia, susceptibility to, 2 skos:exactMatch MEDGEN:419301 semapv:UnspecifiedMatching MONDO:0007939 malignant hyperthermia, susceptibility to, 2 skos:exactMatch OMIM:154275 malignant hyperthermia, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0007939 malignant hyperthermia, susceptibility to, 2 skos:exactMatch UMLS:C2930981 semapv:UnspecifiedMatching MONDO:0007939 malignant hyperthermia, susceptibility to, 2 skos:exactMatch mesh:C535695 semapv:UnspecifiedMatching MONDO:0007940 malignant hyperthermia, susceptibility to, 3 skos:exactMatch MEDGEN:418956 semapv:UnspecifiedMatching MONDO:0007940 malignant hyperthermia, susceptibility to, 3 skos:exactMatch OMIM:154276 malignant hyperthermia, susceptibility to, 3 semapv:UnspecifiedMatching MONDO:0007940 malignant hyperthermia, susceptibility to, 3 skos:exactMatch UMLS:C2930982 semapv:UnspecifiedMatching MONDO:0007940 malignant hyperthermia, susceptibility to, 3 skos:exactMatch mesh:C535696 semapv:UnspecifiedMatching MONDO:0007941 malocclusion due to protuberant upper front teeth skos:exactMatch MEDGEN:331917 semapv:UnspecifiedMatching MONDO:0007941 malocclusion due to protuberant upper front teeth skos:exactMatch OMIM:154300 malocclusion due to protuberant upper front teeth semapv:UnspecifiedMatching MONDO:0007941 malocclusion due to protuberant upper front teeth skos:exactMatch UMLS:C1835159 semapv:UnspecifiedMatching MONDO:0007942 Mammastatin skos:exactMatch MEDGEN:854535 semapv:UnspecifiedMatching MONDO:0007942 Mammastatin skos:exactMatch OMIM:154370 mammastatin semapv:UnspecifiedMatching MONDO:0007942 Mammastatin skos:exactMatch UMLS:C3887696 semapv:UnspecifiedMatching MONDO:0007942 Mammastatin skos:exactMatch mesh:C060120 semapv:UnspecifiedMatching MONDO:0007943 Nager acrofacial dysostosis skos:exactMatch DOID:5768 Nager acrofacial dysostosis semapv:UnspecifiedMatching MONDO:0007943 Nager acrofacial dysostosis skos:exactMatch MEDGEN:120519 semapv:UnspecifiedMatching MONDO:0007943 Nager acrofacial dysostosis skos:exactMatch OMIM:154400 acrofacial dysostosis 1, nager type semapv:UnspecifiedMatching MONDO:0007943 Nager acrofacial dysostosis skos:exactMatch Orphanet:245 Nager syndrome semapv:UnspecifiedMatching MONDO:0007943 Nager acrofacial dysostosis skos:exactMatch SCTID:35520007 semapv:UnspecifiedMatching MONDO:0007943 Nager acrofacial dysostosis skos:exactMatch UMLS:C0265245 semapv:UnspecifiedMatching MONDO:0007943 Nager acrofacial dysostosis skos:exactMatch mesh:C538184 semapv:UnspecifiedMatching MONDO:0007944 Treacher Collins syndrome 1 skos:exactMatch DOID:0080789 Treacher Collins syndrome 1 semapv:UnspecifiedMatching MONDO:0007944 Treacher Collins syndrome 1 skos:exactMatch OMIM:154500 treacher collins syndrome 1 semapv:UnspecifiedMatching MONDO:0007945 mannose 6-phosphate receptor recognition defect, Lebanese type skos:exactMatch MEDGEN:331911 semapv:UnspecifiedMatching MONDO:0007945 mannose 6-phosphate receptor recognition defect, Lebanese type skos:exactMatch OMIM:154570 mannose 6-phosphate receptor recognition defect, lebanese type semapv:UnspecifiedMatching MONDO:0007945 mannose 6-phosphate receptor recognition defect, Lebanese type skos:exactMatch UMLS:C1835134 semapv:UnspecifiedMatching MONDO:0007945 mannose 6-phosphate receptor recognition defect, Lebanese type skos:exactMatch mesh:C563601 semapv:UnspecifiedMatching MONDO:0007946 jaw-winking syndrome skos:exactMatch DOID:560 jaw-winking syndrome semapv:UnspecifiedMatching MONDO:0007946 jaw-winking syndrome skos:exactMatch MEDGEN:120582 semapv:UnspecifiedMatching MONDO:0007946 jaw-winking syndrome skos:exactMatch OMIM:154600 marcus gunn phenomenon semapv:UnspecifiedMatching MONDO:0007946 jaw-winking syndrome skos:exactMatch Orphanet:91412 Marcus-Gunn syndrome semapv:UnspecifiedMatching MONDO:0007946 jaw-winking syndrome skos:exactMatch SCTID:5127009 semapv:UnspecifiedMatching MONDO:0007946 jaw-winking syndrome skos:exactMatch UMLS:C0266521 semapv:UnspecifiedMatching MONDO:0007946 jaw-winking syndrome skos:exactMatch icd11.foundation:590216180 Marcus-Gunn syndrome semapv:UnspecifiedMatching MONDO:0007946 jaw-winking syndrome skos:exactMatch mesh:C535908 semapv:UnspecifiedMatching MONDO:0007947 Marfan syndrome skos:exactMatch DOID:14323 Marfan syndrome semapv:UnspecifiedMatching MONDO:0007947 Marfan syndrome skos:exactMatch ICD10CM:Q87.4 Marfan syndrome semapv:UnspecifiedMatching MONDO:0007947 Marfan syndrome skos:exactMatch MEDGEN:44287 semapv:UnspecifiedMatching MONDO:0007947 Marfan syndrome skos:exactMatch NCIT:C34807 Marfan Syndrome semapv:UnspecifiedMatching MONDO:0007947 Marfan syndrome skos:exactMatch OMIM:154700 marfan syndrome semapv:UnspecifiedMatching MONDO:0007947 Marfan syndrome skos:exactMatch Orphanet:284963 Marfan syndrome type 1 semapv:UnspecifiedMatching MONDO:0007947 Marfan syndrome skos:exactMatch Orphanet:558 Marfan syndrome semapv:UnspecifiedMatching MONDO:0007947 Marfan syndrome skos:exactMatch SCTID:19346006 semapv:UnspecifiedMatching MONDO:0007947 Marfan syndrome skos:exactMatch UMLS:C0024796 semapv:UnspecifiedMatching MONDO:0007947 Marfan syndrome skos:exactMatch icd11.foundation:236564145 Marfan syndrome semapv:UnspecifiedMatching MONDO:0007947 Marfan syndrome skos:exactMatch mesh:D008382 semapv:UnspecifiedMatching MONDO:0007948 marfanoid hypermobility syndrome skos:exactMatch MEDGEN:120632 semapv:UnspecifiedMatching MONDO:0007948 marfanoid hypermobility syndrome skos:exactMatch OMIM:154750 marfanoid hypermobility syndrome semapv:UnspecifiedMatching MONDO:0007948 marfanoid hypermobility syndrome skos:exactMatch UMLS:C0268365 semapv:UnspecifiedMatching MONDO:0007948 marfanoid hypermobility syndrome skos:exactMatch mesh:C531742 semapv:UnspecifiedMatching MONDO:0007949 Marshall syndrome skos:exactMatch DOID:0111510 Marshall syndrome semapv:UnspecifiedMatching MONDO:0007949 Marshall syndrome skos:exactMatch MEDGEN:82694 semapv:UnspecifiedMatching MONDO:0007949 Marshall syndrome skos:exactMatch NCIT:C128115 Marshall Syndrome semapv:UnspecifiedMatching MONDO:0007949 Marshall syndrome skos:exactMatch OMIM:154780 marshall syndrome semapv:UnspecifiedMatching MONDO:0007949 Marshall syndrome skos:exactMatch Orphanet:560 Marshall syndrome semapv:UnspecifiedMatching MONDO:0007949 Marshall syndrome skos:exactMatch SCTID:33410002 semapv:UnspecifiedMatching MONDO:0007949 Marshall syndrome skos:exactMatch UMLS:C0265235 semapv:UnspecifiedMatching MONDO:0007949 Marshall syndrome skos:exactMatch icd11.foundation:1401051186 Marshall syndrome semapv:UnspecifiedMatching MONDO:0007949 Marshall syndrome skos:exactMatch mesh:C536025 semapv:UnspecifiedMatching MONDO:0007950 mastocytosis skos:exactMatch DOID:350 mastocytosis semapv:UnspecifiedMatching MONDO:0007950 mastocytosis skos:exactMatch EFO:0009001 semapv:UnspecifiedMatching MONDO:0007950 mastocytosis skos:exactMatch ICD10WHO:Q82.2 Mastocytosis semapv:UnspecifiedMatching MONDO:0007950 mastocytosis skos:exactMatch MEDGEN:9902 semapv:UnspecifiedMatching MONDO:0007950 mastocytosis skos:exactMatch NCIT:C84269 Mastocytosis semapv:UnspecifiedMatching MONDO:0007950 mastocytosis skos:exactMatch Orphanet:98292 Mastocytosis semapv:UnspecifiedMatching MONDO:0007950 mastocytosis skos:exactMatch UMLS:C0024899 semapv:UnspecifiedMatching MONDO:0007950 mastocytosis skos:exactMatch icd11.foundation:691643472 Mastocytosis semapv:UnspecifiedMatching MONDO:0007950 mastocytosis skos:exactMatch mesh:D008415 semapv:UnspecifiedMatching MONDO:0007951 masticatory muscles, hypertrophy of skos:exactMatch MEDGEN:322570 semapv:UnspecifiedMatching MONDO:0007951 masticatory muscles, hypertrophy of skos:exactMatch OMIM:154850 masticatory muscles, hypertrophy of semapv:UnspecifiedMatching MONDO:0007951 masticatory muscles, hypertrophy of skos:exactMatch SCTID:699649006 semapv:UnspecifiedMatching MONDO:0007951 masticatory muscles, hypertrophy of skos:exactMatch UMLS:C1835093 semapv:UnspecifiedMatching MONDO:0007951 masticatory muscles, hypertrophy of skos:exactMatch mesh:C563600 semapv:UnspecifiedMatching MONDO:0007952 maxillofacial dysostosis skos:exactMatch MEDGEN:320517 semapv:UnspecifiedMatching MONDO:0007952 maxillofacial dysostosis skos:exactMatch OMIM:155000 maxillofacial dysostosis semapv:UnspecifiedMatching MONDO:0007952 maxillofacial dysostosis skos:exactMatch UMLS:C1835088 semapv:UnspecifiedMatching MONDO:0007952 maxillofacial dysostosis skos:exactMatch mesh:C563599 semapv:UnspecifiedMatching MONDO:0007953 Binder syndrome skos:exactMatch DOID:14683 Binder syndrome semapv:UnspecifiedMatching MONDO:0007953 Binder syndrome skos:exactMatch MEDGEN:66318 semapv:UnspecifiedMatching MONDO:0007953 Binder syndrome skos:exactMatch OMIM:155050 maxillonasal dysplasia, binder type semapv:UnspecifiedMatching MONDO:0007953 Binder syndrome skos:exactMatch Orphanet:1248 Maxillonasal dysplasia semapv:UnspecifiedMatching MONDO:0007953 Binder syndrome skos:exactMatch SCTID:715985008 semapv:UnspecifiedMatching MONDO:0007953 Binder syndrome skos:exactMatch UMLS:C0220692 semapv:UnspecifiedMatching MONDO:0007953 Binder syndrome skos:exactMatch mesh:C536036 semapv:UnspecifiedMatching MONDO:0007955 Meckel diverticulum skos:exactMatch DOID:9487 Meckel's diverticulum semapv:UnspecifiedMatching MONDO:0007955 Meckel diverticulum skos:exactMatch EFO:1001036 semapv:UnspecifiedMatching MONDO:0007955 Meckel diverticulum skos:exactMatch ICD10CM:Q43.0 Meckel's diverticulum (displaced) (hypertrophic) semapv:UnspecifiedMatching MONDO:0007955 Meckel diverticulum skos:exactMatch MEDGEN:9917 semapv:UnspecifiedMatching MONDO:0007955 Meckel diverticulum skos:exactMatch NCIT:C12264 Meckel Diverticulum semapv:UnspecifiedMatching MONDO:0007955 Meckel diverticulum skos:exactMatch OMIM:155140 meckel diverticulum semapv:UnspecifiedMatching MONDO:0007955 Meckel diverticulum skos:exactMatch SCTID:37373007 semapv:UnspecifiedMatching MONDO:0007955 Meckel diverticulum skos:exactMatch UMLS:C0025037 semapv:UnspecifiedMatching MONDO:0007955 Meckel diverticulum skos:exactMatch icd11.foundation:216192536 Meckel diverticulum semapv:UnspecifiedMatching MONDO:0007955 Meckel diverticulum skos:exactMatch icd11.foundation:337533229 Persistent vitelline duct semapv:UnspecifiedMatching MONDO:0007955 Meckel diverticulum skos:exactMatch mesh:D008467 semapv:UnspecifiedMatching MONDO:0007956 Pai syndrome skos:exactMatch MEDGEN:371972 semapv:UnspecifiedMatching MONDO:0007956 Pai syndrome skos:exactMatch OMIM:155145 cleft, median, of upper 51p with polyps of facial skin and nasal mucosa semapv:UnspecifiedMatching MONDO:0007956 Pai syndrome skos:exactMatch Orphanet:1993 Pai syndrome semapv:UnspecifiedMatching MONDO:0007956 Pai syndrome skos:exactMatch SCTID:722201004 semapv:UnspecifiedMatching MONDO:0007956 Pai syndrome skos:exactMatch UMLS:C1835087 semapv:UnspecifiedMatching MONDO:0007956 Pai syndrome skos:exactMatch icd11.foundation:1236130516 Pai syndrome semapv:UnspecifiedMatching MONDO:0007956 Pai syndrome skos:exactMatch mesh:C536135 semapv:UnspecifiedMatching MONDO:0007957 mediosternal depigmentation line skos:exactMatch MEDGEN:371971 semapv:UnspecifiedMatching MONDO:0007957 mediosternal depigmentation line skos:exactMatch OMIM:155200 mediosternal depigmentation line semapv:UnspecifiedMatching MONDO:0007957 mediosternal depigmentation line skos:exactMatch UMLS:C1835085 semapv:UnspecifiedMatching MONDO:0007958 familial medullary thyroid carcinoma skos:exactMatch DOID:0050547 familial medullary thyroid carcinoma semapv:UnspecifiedMatching MONDO:0007958 familial medullary thyroid carcinoma skos:exactMatch MEDGEN:322311 semapv:UnspecifiedMatching MONDO:0007958 familial medullary thyroid carcinoma skos:exactMatch NCIT:C46099 Hereditary Thyroid Gland Medullary Carcinoma semapv:UnspecifiedMatching MONDO:0007958 familial medullary thyroid carcinoma skos:exactMatch OMIM:155240 thyroid carcinoma, familial medullary semapv:UnspecifiedMatching MONDO:0007958 familial medullary thyroid carcinoma skos:exactMatch Orphanet:99361 Isolated familial medullary thyroid carcinoma semapv:UnspecifiedMatching MONDO:0007958 familial medullary thyroid carcinoma skos:exactMatch UMLS:C1833921 semapv:UnspecifiedMatching MONDO:0007958 familial medullary thyroid carcinoma skos:exactMatch mesh:C536911 semapv:UnspecifiedMatching MONDO:0007959 medulloblastoma skos:exactMatch DOID:0050902 medulloblastoma semapv:UnspecifiedMatching MONDO:0007959 medulloblastoma skos:exactMatch DOID:0060104 cerebellar medulloblastoma semapv:UnspecifiedMatching MONDO:0007959 medulloblastoma skos:exactMatch EFO:0002939 semapv:UnspecifiedMatching MONDO:0007959 medulloblastoma skos:exactMatch MEDGEN:7517 semapv:UnspecifiedMatching MONDO:0007959 medulloblastoma skos:exactMatch NCIT:C3222 Medulloblastoma semapv:UnspecifiedMatching MONDO:0007959 medulloblastoma skos:exactMatch OMIM:155255 medulloblastoma semapv:UnspecifiedMatching MONDO:0007959 medulloblastoma skos:exactMatch Orphanet:616 Medulloblastoma semapv:UnspecifiedMatching MONDO:0007959 medulloblastoma skos:exactMatch SCTID:443333004 semapv:UnspecifiedMatching MONDO:0007959 medulloblastoma skos:exactMatch UMLS:C0025149 semapv:UnspecifiedMatching MONDO:0007959 medulloblastoma skos:exactMatch icd11.foundation:290815825 Medulloblastoma of brain semapv:UnspecifiedMatching MONDO:0007959 medulloblastoma skos:exactMatch mesh:D008527 semapv:UnspecifiedMatching MONDO:0007961 megalencephaly, autosomal dominant skos:exactMatch MEDGEN:812057 semapv:UnspecifiedMatching MONDO:0007961 megalencephaly, autosomal dominant skos:exactMatch OMIM:155350 megalencephaly, autosomal dominant semapv:UnspecifiedMatching MONDO:0007961 megalencephaly, autosomal dominant skos:exactMatch UMLS:C3805727 semapv:UnspecifiedMatching MONDO:0007962 megalodactyly skos:exactMatch MEDGEN:78564 semapv:UnspecifiedMatching MONDO:0007962 megalodactyly skos:exactMatch NCIT:C48900 Macrodactyly semapv:UnspecifiedMatching MONDO:0007962 megalodactyly skos:exactMatch OMIM:155500 macrodactyly semapv:UnspecifiedMatching MONDO:0007962 megalodactyly skos:exactMatch SCTID:48449000 semapv:UnspecifiedMatching MONDO:0007962 megalodactyly skos:exactMatch UMLS:C0265552 semapv:UnspecifiedMatching MONDO:0007962 megalodactyly skos:exactMatch mesh:C562546 semapv:UnspecifiedMatching MONDO:0007963 melanoma, cutaneous malignant, susceptibility to, 1 skos:exactMatch MEDGEN:320506 semapv:UnspecifiedMatching MONDO:0007963 melanoma, cutaneous malignant, susceptibility to, 1 skos:exactMatch OMIM:155600 melanoma, cutaneous malignant, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0007963 melanoma, cutaneous malignant, susceptibility to, 1 skos:exactMatch SCTID:254819008 semapv:UnspecifiedMatching MONDO:0007963 melanoma, cutaneous malignant, susceptibility to, 1 skos:exactMatch UMLS:C1835047 semapv:UnspecifiedMatching MONDO:0007964 melanoma, cutaneous malignant, susceptibility to, 2 skos:exactMatch DOID:10041 dysplastic nevus syndrome semapv:UnspecifiedMatching MONDO:0007964 melanoma, cutaneous malignant, susceptibility to, 2 skos:exactMatch MEDGEN:331891 semapv:UnspecifiedMatching MONDO:0007964 melanoma, cutaneous malignant, susceptibility to, 2 skos:exactMatch NCIT:C7584 Dysplastic Nevus Syndrome semapv:UnspecifiedMatching MONDO:0007964 melanoma, cutaneous malignant, susceptibility to, 2 skos:exactMatch OMIM:155601 melanoma, cutaneous malignant, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0007964 melanoma, cutaneous malignant, susceptibility to, 2 skos:exactMatch UMLS:C1835044 semapv:UnspecifiedMatching MONDO:0007964 melanoma, cutaneous malignant, susceptibility to, 2 skos:exactMatch mesh:D004416 semapv:UnspecifiedMatching MONDO:0007965 melanoma, malignant familial intraocular skos:exactMatch MEDGEN:322559 semapv:UnspecifiedMatching MONDO:0007965 melanoma, malignant familial intraocular skos:exactMatch OMIM:155700 melanoma, malignant familial intraocular semapv:UnspecifiedMatching MONDO:0007965 melanoma, malignant familial intraocular skos:exactMatch UMLS:C1835043 semapv:UnspecifiedMatching MONDO:0007965 melanoma, malignant familial intraocular skos:exactMatch mesh:C563596 semapv:UnspecifiedMatching MONDO:0007967 melanoma and neural system tumor syndrome skos:exactMatch DOID:0111511 melanoma and neural system tumor syndrome semapv:UnspecifiedMatching MONDO:0007967 melanoma and neural system tumor syndrome skos:exactMatch MEDGEN:331890 semapv:UnspecifiedMatching MONDO:0007967 melanoma and neural system tumor syndrome skos:exactMatch NCIT:C176905 Melanoma-Astrocytoma Syndrome semapv:UnspecifiedMatching MONDO:0007967 melanoma and neural system tumor syndrome skos:exactMatch OMIM:155755 melanoma-astrocytoma syndrome semapv:UnspecifiedMatching MONDO:0007967 melanoma and neural system tumor syndrome skos:exactMatch Orphanet:252206 Melanoma and neural system tumor syndrome semapv:UnspecifiedMatching MONDO:0007967 melanoma and neural system tumor syndrome skos:exactMatch SCTID:717968005 semapv:UnspecifiedMatching MONDO:0007967 melanoma and neural system tumor syndrome skos:exactMatch UMLS:C1835042 semapv:UnspecifiedMatching MONDO:0007967 melanoma and neural system tumor syndrome skos:exactMatch mesh:C536149 semapv:UnspecifiedMatching MONDO:0007968 melanoma tumor antigen Gp90 skos:exactMatch MEDGEN:322558 semapv:UnspecifiedMatching MONDO:0007968 melanoma tumor antigen Gp90 skos:exactMatch OMIM:155770 melanoma tumor antigen GP90 semapv:UnspecifiedMatching MONDO:0007968 melanoma tumor antigen Gp90 skos:exactMatch UMLS:C1835040 semapv:UnspecifiedMatching MONDO:0007969 Melkersson-Rosenthal syndrome skos:exactMatch DOID:1761 Melkersson-Rosenthal syndrome semapv:UnspecifiedMatching MONDO:0007969 Melkersson-Rosenthal syndrome skos:exactMatch EFO:1001039 semapv:UnspecifiedMatching MONDO:0007969 Melkersson-Rosenthal syndrome skos:exactMatch ICD10CM:G51.2 Melkersson's syndrome semapv:UnspecifiedMatching MONDO:0007969 Melkersson-Rosenthal syndrome skos:exactMatch MEDGEN:6291 semapv:UnspecifiedMatching MONDO:0007969 Melkersson-Rosenthal syndrome skos:exactMatch NCIT:C84886 Melkersson-Rosenthal Syndrome semapv:UnspecifiedMatching MONDO:0007969 Melkersson-Rosenthal syndrome skos:exactMatch OMIM:155900 melkersson-rosenthal syndrome semapv:UnspecifiedMatching MONDO:0007969 Melkersson-Rosenthal syndrome skos:exactMatch Orphanet:2483 Melkersson-Rosenthal syndrome semapv:UnspecifiedMatching MONDO:0007969 Melkersson-Rosenthal syndrome skos:exactMatch UMLS:C0025235 semapv:UnspecifiedMatching MONDO:0007969 Melkersson-Rosenthal syndrome skos:exactMatch mesh:D008556 semapv:UnspecifiedMatching MONDO:0007970 melorheostosis skos:exactMatch DOID:4253 melorheostosis semapv:UnspecifiedMatching MONDO:0007970 melorheostosis skos:exactMatch MEDGEN:460981 semapv:UnspecifiedMatching MONDO:0007970 melorheostosis skos:exactMatch NCIT:C84887 Melorheostosis semapv:UnspecifiedMatching MONDO:0007970 melorheostosis skos:exactMatch OMIM:155950 melorheostosis, isolated semapv:UnspecifiedMatching MONDO:0007970 melorheostosis skos:exactMatch Orphanet:2485 Melorheostosis semapv:UnspecifiedMatching MONDO:0007970 melorheostosis skos:exactMatch SCTID:44697002 semapv:UnspecifiedMatching MONDO:0007970 melorheostosis skos:exactMatch UMLS:C3149631 semapv:UnspecifiedMatching MONDO:0007970 melorheostosis skos:exactMatch icd11.foundation:312433776 Melorheostosis semapv:UnspecifiedMatching MONDO:0007970 melorheostosis skos:exactMatch mesh:D008557 semapv:UnspecifiedMatching MONDO:0007971 delayed membranous cranial ossification skos:exactMatch MEDGEN:320502 semapv:UnspecifiedMatching MONDO:0007971 delayed membranous cranial ossification skos:exactMatch OMIM:155980 membranous cranial ossification, delayed semapv:UnspecifiedMatching MONDO:0007971 delayed membranous cranial ossification skos:exactMatch Orphanet:3034 Delayed membranous cranial ossification semapv:UnspecifiedMatching MONDO:0007971 delayed membranous cranial ossification skos:exactMatch SCTID:715524004 semapv:UnspecifiedMatching MONDO:0007971 delayed membranous cranial ossification skos:exactMatch UMLS:C1835030 semapv:UnspecifiedMatching MONDO:0007971 delayed membranous cranial ossification skos:exactMatch icd11.foundation:766852360 Delayed membranous cranial ossification semapv:UnspecifiedMatching MONDO:0007971 delayed membranous cranial ossification skos:exactMatch mesh:C563592 semapv:UnspecifiedMatching MONDO:0007972 Meniere disease skos:exactMatch DOID:9849 Meniere's disease semapv:UnspecifiedMatching MONDO:0007972 Meniere disease skos:exactMatch EFO:0006862 semapv:UnspecifiedMatching MONDO:0007972 Meniere disease skos:exactMatch MEDGEN:7530 semapv:UnspecifiedMatching MONDO:0007972 Meniere disease skos:exactMatch NCIT:C185243 Meniere Disease semapv:UnspecifiedMatching MONDO:0007972 Meniere disease skos:exactMatch OMIM:156000 meniere disease semapv:UnspecifiedMatching MONDO:0007972 Meniere disease skos:exactMatch SCTID:13445001 semapv:UnspecifiedMatching MONDO:0007972 Meniere disease skos:exactMatch UMLS:C0025281 semapv:UnspecifiedMatching MONDO:0007972 Meniere disease skos:exactMatch icd11.foundation:683932278 Meniere disease semapv:UnspecifiedMatching MONDO:0007972 Meniere disease skos:exactMatch mesh:D008575 semapv:UnspecifiedMatching MONDO:0007973 mental and growth retardation with amblyopia skos:exactMatch MEDGEN:331885 semapv:UnspecifiedMatching MONDO:0007973 mental and growth retardation with amblyopia skos:exactMatch OMIM:156190 mental and growth retardation with amblyopia semapv:UnspecifiedMatching MONDO:0007973 mental and growth retardation with amblyopia skos:exactMatch UMLS:C1835028 semapv:UnspecifiedMatching MONDO:0007973 mental and growth retardation with amblyopia skos:exactMatch mesh:C563591 semapv:UnspecifiedMatching MONDO:0007974 intellectual disability, autosomal dominant 1 skos:exactMatch DOID:0070031 autosomal dominant intellectual developmental disorder 1 semapv:UnspecifiedMatching MONDO:0007974 intellectual disability, autosomal dominant 1 skos:exactMatch MEDGEN:409857 semapv:UnspecifiedMatching MONDO:0007974 intellectual disability, autosomal dominant 1 skos:exactMatch NCIT:C141424 Mental Retardation, Autosomal Dominant 1 semapv:UnspecifiedMatching MONDO:0007974 intellectual disability, autosomal dominant 1 skos:exactMatch OMIM:156200 intellectual developmental disorder, autosomal dominant 1 semapv:UnspecifiedMatching MONDO:0007974 intellectual disability, autosomal dominant 1 skos:exactMatch UMLS:C1969562 semapv:UnspecifiedMatching MONDO:0007974 intellectual disability, autosomal dominant 1 skos:exactMatch mesh:C566947 semapv:UnspecifiedMatching MONDO:0007975 meralgia paraesthetica, familial skos:exactMatch MEDGEN:322555 semapv:UnspecifiedMatching MONDO:0007975 meralgia paraesthetica, familial skos:exactMatch OMIM:156220 meralgia paraesthetica, familial semapv:UnspecifiedMatching MONDO:0007975 meralgia paraesthetica, familial skos:exactMatch UMLS:C1835026 semapv:UnspecifiedMatching MONDO:0007975 meralgia paraesthetica, familial skos:exactMatch mesh:C563590 semapv:UnspecifiedMatching MONDO:0007976 mesomelic dwarfism of hypoplastic tibia and radius type skos:exactMatch MEDGEN:322550 semapv:UnspecifiedMatching MONDO:0007976 mesomelic dwarfism of hypoplastic tibia and radius type skos:exactMatch OMIM:156230 mesomelic dwarfism of hypoplastic tibia and radius type semapv:UnspecifiedMatching MONDO:0007976 mesomelic dwarfism of hypoplastic tibia and radius type skos:exactMatch UMLS:C1835010 semapv:UnspecifiedMatching MONDO:0007976 mesomelic dwarfism of hypoplastic tibia and radius type skos:exactMatch mesh:C563589 semapv:UnspecifiedMatching MONDO:0007977 mesomelic dysplasia, Kantaputra type skos:exactMatch MEDGEN:331880 semapv:UnspecifiedMatching MONDO:0007977 mesomelic dysplasia, Kantaputra type skos:exactMatch OMIM:156232 mesomelic dysplasia, kantaputra type semapv:UnspecifiedMatching MONDO:0007977 mesomelic dysplasia, Kantaputra type skos:exactMatch Orphanet:1836 Mesomelic dysplasia, Kantaputra type semapv:UnspecifiedMatching MONDO:0007977 mesomelic dysplasia, Kantaputra type skos:exactMatch SCTID:719397009 semapv:UnspecifiedMatching MONDO:0007977 mesomelic dysplasia, Kantaputra type skos:exactMatch UMLS:C1835009 semapv:UnspecifiedMatching MONDO:0007977 mesomelic dysplasia, Kantaputra type skos:exactMatch mesh:C535547 semapv:UnspecifiedMatching MONDO:0007979 metachondromatosis skos:exactMatch DOID:0111512 metachondromatosis semapv:UnspecifiedMatching MONDO:0007979 metachondromatosis skos:exactMatch MEDGEN:98377 semapv:UnspecifiedMatching MONDO:0007979 metachondromatosis skos:exactMatch OMIM:156250 metachondromatosis semapv:UnspecifiedMatching MONDO:0007979 metachondromatosis skos:exactMatch Orphanet:2499 Metachondromatosis semapv:UnspecifiedMatching MONDO:0007979 metachondromatosis skos:exactMatch SCTID:205481009 semapv:UnspecifiedMatching MONDO:0007979 metachondromatosis skos:exactMatch UMLS:C0410530 semapv:UnspecifiedMatching MONDO:0007979 metachondromatosis skos:exactMatch icd11.foundation:1342578560 Metachondromatosis semapv:UnspecifiedMatching MONDO:0007979 metachondromatosis skos:exactMatch mesh:C562938 semapv:UnspecifiedMatching MONDO:0007980 metachromasia of fibroblasts skos:exactMatch MEDGEN:322549 semapv:UnspecifiedMatching MONDO:0007980 metachromasia of fibroblasts skos:exactMatch OMIM:156300 metachromasia of fibroblasts semapv:UnspecifiedMatching MONDO:0007980 metachromasia of fibroblasts skos:exactMatch UMLS:C1835008 semapv:UnspecifiedMatching MONDO:0007981 obsolete metachromatic leukodystrophy, adult-onset, with normal arylsulfatase A skos:exactMatch OMIM:156310 metachromatic leukodystrophy, adult-onset, with normal arylsulfatase a semapv:UnspecifiedMatching MONDO:0007981 obsolete metachromatic leukodystrophy, adult-onset, with normal arylsulfatase A skos:exactMatch mesh:C563587 semapv:UnspecifiedMatching MONDO:0007982 metaphyseal chondrodysplasia, Jansen type skos:exactMatch DOID:0080020 Jansen's metaphyseal chondrodysplasia semapv:UnspecifiedMatching MONDO:0007982 metaphyseal chondrodysplasia, Jansen type skos:exactMatch MEDGEN:120529 semapv:UnspecifiedMatching MONDO:0007982 metaphyseal chondrodysplasia, Jansen type skos:exactMatch NCIT:C131868 Metaphyseal Chondrodysplasia, Jansen Type semapv:UnspecifiedMatching MONDO:0007982 metaphyseal chondrodysplasia, Jansen type skos:exactMatch OMIM:156400 metaphyseal chondrodysplasia, jansen type semapv:UnspecifiedMatching MONDO:0007982 metaphyseal chondrodysplasia, Jansen type skos:exactMatch Orphanet:33067 Metaphyseal chondrodysplasia, Jansen type semapv:UnspecifiedMatching MONDO:0007982 metaphyseal chondrodysplasia, Jansen type skos:exactMatch SCTID:24629003 semapv:UnspecifiedMatching MONDO:0007982 metaphyseal chondrodysplasia, Jansen type skos:exactMatch UMLS:C0265295 semapv:UnspecifiedMatching MONDO:0007982 metaphyseal chondrodysplasia, Jansen type skos:exactMatch icd11.foundation:1652660420 Metaphyseal chondrodysplasia, Jansen type semapv:UnspecifiedMatching MONDO:0007982 metaphyseal chondrodysplasia, Jansen type skos:exactMatch mesh:C537564 semapv:UnspecifiedMatching MONDO:0007983 Schmid metaphyseal chondrodysplasia skos:exactMatch DOID:0080021 Schmid metaphyseal chondrodysplasia semapv:UnspecifiedMatching MONDO:0007983 Schmid metaphyseal chondrodysplasia skos:exactMatch MEDGEN:78550 semapv:UnspecifiedMatching MONDO:0007983 Schmid metaphyseal chondrodysplasia skos:exactMatch OMIM:156500 metaphyseal chondrodysplasia, schmid type semapv:UnspecifiedMatching MONDO:0007983 Schmid metaphyseal chondrodysplasia skos:exactMatch Orphanet:174 Metaphyseal chondrodysplasia, Schmid type semapv:UnspecifiedMatching MONDO:0007983 Schmid metaphyseal chondrodysplasia skos:exactMatch SCTID:29248006 semapv:UnspecifiedMatching MONDO:0007983 Schmid metaphyseal chondrodysplasia skos:exactMatch UMLS:C0265289 semapv:UnspecifiedMatching MONDO:0007983 Schmid metaphyseal chondrodysplasia skos:exactMatch mesh:C537352 semapv:UnspecifiedMatching MONDO:0007984 metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome skos:exactMatch DOID:0111513 metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome semapv:UnspecifiedMatching MONDO:0007984 metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome skos:exactMatch MEDGEN:762788 semapv:UnspecifiedMatching MONDO:0007984 metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome skos:exactMatch OMIM:156510 metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly semapv:UnspecifiedMatching MONDO:0007984 metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome skos:exactMatch Orphanet:2504 Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome semapv:UnspecifiedMatching MONDO:0007984 metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome skos:exactMatch UMLS:C3549874 semapv:UnspecifiedMatching MONDO:0007985 metatarsus varus, type 1 skos:exactMatch MEDGEN:331870 semapv:UnspecifiedMatching MONDO:0007985 metatarsus varus, type 1 skos:exactMatch OMIM:156520 metatarsus varus, type 1 semapv:UnspecifiedMatching MONDO:0007985 metatarsus varus, type 1 skos:exactMatch UMLS:C1834968 semapv:UnspecifiedMatching MONDO:0007985 metatarsus varus, type 1 skos:exactMatch mesh:C563585 semapv:UnspecifiedMatching MONDO:0007986 metatropic dysplasia skos:exactMatch DOID:0111514 metatropic dysplasia semapv:UnspecifiedMatching MONDO:0007986 metatropic dysplasia skos:exactMatch MEDGEN:82699 semapv:UnspecifiedMatching MONDO:0007986 metatropic dysplasia skos:exactMatch NCIT:C175209 Metatropic Dysplasia semapv:UnspecifiedMatching MONDO:0007986 metatropic dysplasia skos:exactMatch OMIM:156530 metatropic dysplasia semapv:UnspecifiedMatching MONDO:0007986 metatropic dysplasia skos:exactMatch Orphanet:2635 Metatropic dysplasia semapv:UnspecifiedMatching MONDO:0007986 metatropic dysplasia skos:exactMatch SCTID:22764001 semapv:UnspecifiedMatching MONDO:0007986 metatropic dysplasia skos:exactMatch UMLS:C0265281 semapv:UnspecifiedMatching MONDO:0007986 metatropic dysplasia skos:exactMatch mesh:C537356 semapv:UnspecifiedMatching MONDO:0007987 Kniest dysplasia skos:exactMatch DOID:0080045 Kniest dysplasia semapv:UnspecifiedMatching MONDO:0007987 Kniest dysplasia skos:exactMatch MEDGEN:75559 semapv:UnspecifiedMatching MONDO:0007987 Kniest dysplasia skos:exactMatch NCIT:C125594 Kniest Dysplasia semapv:UnspecifiedMatching MONDO:0007987 Kniest dysplasia skos:exactMatch OMIM:156550 kniest dysplasia semapv:UnspecifiedMatching MONDO:0007987 Kniest dysplasia skos:exactMatch Orphanet:485 Kniest dysplasia semapv:UnspecifiedMatching MONDO:0007987 Kniest dysplasia skos:exactMatch SCTID:53974002 semapv:UnspecifiedMatching MONDO:0007987 Kniest dysplasia skos:exactMatch UMLS:C0265279 semapv:UnspecifiedMatching MONDO:0007987 Kniest dysplasia skos:exactMatch icd11.foundation:2088691719 Kniest dysplasia semapv:UnspecifiedMatching MONDO:0007987 Kniest dysplasia skos:exactMatch mesh:C537207 semapv:UnspecifiedMatching MONDO:0007988 autosomal dominant primary microcephaly skos:exactMatch DOID:0061100 autosomal dominant primary microcephaly semapv:UnspecifiedMatching MONDO:0007988 autosomal dominant primary microcephaly skos:exactMatch DOID:14725 autosomal dominant microcephaly semapv:UnspecifiedMatching MONDO:0007988 autosomal dominant primary microcephaly skos:exactMatch MEDGEN:66319 semapv:UnspecifiedMatching MONDO:0007988 autosomal dominant primary microcephaly skos:exactMatch OMIM:156580 microcephaly, autosomal dominant semapv:UnspecifiedMatching MONDO:0007988 autosomal dominant primary microcephaly skos:exactMatch Orphanet:2514 Autosomal dominant primary microcephaly semapv:UnspecifiedMatching MONDO:0007988 autosomal dominant primary microcephaly skos:exactMatch UMLS:C0220693 semapv:UnspecifiedMatching MONDO:0007988 autosomal dominant primary microcephaly skos:exactMatch icd11.foundation:774437947 Autosomal dominant primary microcephaly semapv:UnspecifiedMatching MONDO:0007988 autosomal dominant primary microcephaly skos:exactMatch mesh:C537323 semapv:UnspecifiedMatching MONDO:0007989 congenital microcoria skos:exactMatch MEDGEN:227002 semapv:UnspecifiedMatching MONDO:0007989 congenital microcoria skos:exactMatch OMIM:156600 microcoria, congenital semapv:UnspecifiedMatching MONDO:0007989 congenital microcoria skos:exactMatch Orphanet:566 Congenital microcoria semapv:UnspecifiedMatching MONDO:0007989 congenital microcoria skos:exactMatch SCTID:400962005 semapv:UnspecifiedMatching MONDO:0007989 congenital microcoria skos:exactMatch UMLS:C1303009 semapv:UnspecifiedMatching MONDO:0007989 congenital microcoria skos:exactMatch mesh:C537550 semapv:UnspecifiedMatching MONDO:0007990 multiple benign circumferential skin creases on limbs skos:exactMatch DOID:0112241 multiple benign circumferential skin creases on limbs semapv:UnspecifiedMatching MONDO:0007990 multiple benign circumferential skin creases on limbs skos:exactMatch MEDGEN:96881 semapv:UnspecifiedMatching MONDO:0007990 multiple benign circumferential skin creases on limbs skos:exactMatch Orphanet:2505 Multiple benign circumferential skin creases on limbs semapv:UnspecifiedMatching MONDO:0007990 multiple benign circumferential skin creases on limbs skos:exactMatch UMLS:C0473586 semapv:UnspecifiedMatching MONDO:0007990 multiple benign circumferential skin creases on limbs skos:exactMatch mesh:C537575 semapv:UnspecifiedMatching MONDO:0007991 microcephaly-deafness-intellectual disability syndrome skos:exactMatch MEDGEN:163208 semapv:UnspecifiedMatching MONDO:0007991 microcephaly-deafness-intellectual disability syndrome skos:exactMatch OMIM:156620 microcephaly-deafness syndrome semapv:UnspecifiedMatching MONDO:0007991 microcephaly-deafness-intellectual disability syndrome skos:exactMatch Orphanet:2533 Microcephaly-deafness-intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0007991 microcephaly-deafness-intellectual disability syndrome skos:exactMatch SCTID:716112005 semapv:UnspecifiedMatching MONDO:0007991 microcephaly-deafness-intellectual disability syndrome skos:exactMatch UMLS:C0796062 semapv:UnspecifiedMatching MONDO:0007991 microcephaly-deafness-intellectual disability syndrome skos:exactMatch mesh:C537326 semapv:UnspecifiedMatching MONDO:0007992 microcornea-glaucoma-absent frontal sinuses syndrome skos:exactMatch MEDGEN:331860 semapv:UnspecifiedMatching MONDO:0007992 microcornea-glaucoma-absent frontal sinuses syndrome skos:exactMatch OMIM:156700 microcornea, glaucoma, and absent frontal sinuses semapv:UnspecifiedMatching MONDO:0007992 microcornea-glaucoma-absent frontal sinuses syndrome skos:exactMatch Orphanet:2536 Microcornea-glaucoma-absent frontal sinuses syndrome semapv:UnspecifiedMatching MONDO:0007992 microcornea-glaucoma-absent frontal sinuses syndrome skos:exactMatch UMLS:C1834935 semapv:UnspecifiedMatching MONDO:0007992 microcornea-glaucoma-absent frontal sinuses syndrome skos:exactMatch mesh:C537552 semapv:UnspecifiedMatching MONDO:0007993 microgastria-limb reduction defect syndrome skos:exactMatch MEDGEN:322532 semapv:UnspecifiedMatching MONDO:0007993 microgastria-limb reduction defect syndrome skos:exactMatch OMIM:156810 microgastria-limb reduction defects association semapv:UnspecifiedMatching MONDO:0007993 microgastria-limb reduction defect syndrome skos:exactMatch Orphanet:2538 Microgastria-limb reduction defect syndrome semapv:UnspecifiedMatching MONDO:0007993 microgastria-limb reduction defect syndrome skos:exactMatch UMLS:C1834929 semapv:UnspecifiedMatching MONDO:0007993 microgastria-limb reduction defect syndrome skos:exactMatch mesh:C537554 semapv:UnspecifiedMatching MONDO:0007994 micromelic bone dysplasia with cloverleaf skull skos:exactMatch MEDGEN:322531 semapv:UnspecifiedMatching MONDO:0007994 micromelic bone dysplasia with cloverleaf skull skos:exactMatch OMIM:156830 micromelic bone dysplasia with cloverleaf skull semapv:UnspecifiedMatching MONDO:0007994 micromelic bone dysplasia with cloverleaf skull skos:exactMatch UMLS:C1834928 semapv:UnspecifiedMatching MONDO:0007994 micromelic bone dysplasia with cloverleaf skull skos:exactMatch mesh:C536429 semapv:UnspecifiedMatching MONDO:0007995 microphthalmia, isolated, with cataract 1 skos:exactMatch MEDGEN:320475 semapv:UnspecifiedMatching MONDO:0007995 microphthalmia, isolated, with cataract 1 skos:exactMatch OMIM:156850 microphthalmia, isolated, with cataract 1 semapv:UnspecifiedMatching MONDO:0007995 microphthalmia, isolated, with cataract 1 skos:exactMatch UMLS:C1834919 semapv:UnspecifiedMatching MONDO:0007995 microphthalmia, isolated, with cataract 1 skos:exactMatch mesh:C563582 semapv:UnspecifiedMatching MONDO:0007996 microphthalmia, isolated, with corectopia skos:exactMatch MEDGEN:320474 semapv:UnspecifiedMatching MONDO:0007996 microphthalmia, isolated, with corectopia skos:exactMatch OMIM:156900 microphthalmia, isolated, with corectopia semapv:UnspecifiedMatching MONDO:0007996 microphthalmia, isolated, with corectopia skos:exactMatch UMLS:C1834918 semapv:UnspecifiedMatching MONDO:0007996 microphthalmia, isolated, with corectopia skos:exactMatch mesh:C563581 semapv:UnspecifiedMatching MONDO:0007997 microspherophakia with hernia skos:exactMatch MEDGEN:322521 semapv:UnspecifiedMatching MONDO:0007997 microspherophakia with hernia skos:exactMatch OMIM:157150 microspherophakia with hernia semapv:UnspecifiedMatching MONDO:0007997 microspherophakia with hernia skos:exactMatch UMLS:C1834881 semapv:UnspecifiedMatching MONDO:0007997 microspherophakia with hernia skos:exactMatch mesh:C537468 semapv:UnspecifiedMatching MONDO:0007998 microspherophakia-metaphyseal dysplasia syndrome skos:exactMatch MEDGEN:322520 semapv:UnspecifiedMatching MONDO:0007998 microspherophakia-metaphyseal dysplasia syndrome skos:exactMatch OMIM:157151 microspherophakia-metaphyseal dysplasia semapv:UnspecifiedMatching MONDO:0007998 microspherophakia-metaphyseal dysplasia syndrome skos:exactMatch Orphanet:2551 Microspherophakia-metaphyseal dysplasia syndrome semapv:UnspecifiedMatching MONDO:0007998 microspherophakia-metaphyseal dysplasia syndrome skos:exactMatch UMLS:C1834880 semapv:UnspecifiedMatching MONDO:0007998 microspherophakia-metaphyseal dysplasia syndrome skos:exactMatch mesh:C536540 semapv:UnspecifiedMatching MONDO:0007999 holoprosencephaly 2 skos:exactMatch DOID:0110872 holoprosencephaly 2 semapv:UnspecifiedMatching MONDO:0007999 holoprosencephaly 2 skos:exactMatch MEDGEN:322517 semapv:UnspecifiedMatching MONDO:0007999 holoprosencephaly 2 skos:exactMatch NCIT:C74995 Holoprosencephaly Type 2 semapv:UnspecifiedMatching MONDO:0007999 holoprosencephaly 2 skos:exactMatch OMIM:157170 holoprosencephaly 2 semapv:UnspecifiedMatching MONDO:0007999 holoprosencephaly 2 skos:exactMatch UMLS:C1834877 semapv:UnspecifiedMatching MONDO:0007999 holoprosencephaly 2 skos:exactMatch mesh:C563579 semapv:UnspecifiedMatching MONDO:0008000 migraine with or without aura, susceptibility to, 1 skos:exactMatch MEDGEN:854348 semapv:UnspecifiedMatching MONDO:0008000 migraine with or without aura, susceptibility to, 1 skos:exactMatch OMIM:157300 migraine with or without aura, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0008000 migraine with or without aura, susceptibility to, 1 skos:exactMatch SCTID:37796009 semapv:UnspecifiedMatching MONDO:0008000 migraine with or without aura, susceptibility to, 1 skos:exactMatch UMLS:C3887485 semapv:UnspecifiedMatching MONDO:0008001 milia, multiple eruptive skos:exactMatch MEDGEN:83356 semapv:UnspecifiedMatching MONDO:0008001 milia, multiple eruptive skos:exactMatch OMIM:157400 milia, multiple eruptive semapv:UnspecifiedMatching MONDO:0008001 milia, multiple eruptive skos:exactMatch SCTID:238749001 semapv:UnspecifiedMatching MONDO:0008001 milia, multiple eruptive skos:exactMatch UMLS:C0343079 semapv:UnspecifiedMatching MONDO:0008001 milia, multiple eruptive skos:exactMatch mesh:C562823 semapv:UnspecifiedMatching MONDO:0008002 mirror movements 1 skos:exactMatch DOID:0070636 mirror movements 1 semapv:UnspecifiedMatching MONDO:0008002 mirror movements 1 skos:exactMatch MEDGEN:320461 semapv:UnspecifiedMatching MONDO:0008002 mirror movements 1 skos:exactMatch OMIM:157600 mirror movements 1 semapv:UnspecifiedMatching MONDO:0008002 mirror movements 1 skos:exactMatch UMLS:C1834870 semapv:UnspecifiedMatching MONDO:0008003 autosomal dominant progressive external ophthalmoplegia skos:exactMatch MEDGEN:1686757 semapv:UnspecifiedMatching MONDO:0008003 autosomal dominant progressive external ophthalmoplegia skos:exactMatch Orphanet:254892 Autosomal dominant progressive external ophthalmoplegia semapv:UnspecifiedMatching MONDO:0008003 autosomal dominant progressive external ophthalmoplegia skos:exactMatch UMLS:C5231255 semapv:UnspecifiedMatching MONDO:0008003 autosomal dominant progressive external ophthalmoplegia skos:exactMatch mesh:C563575 semapv:UnspecifiedMatching MONDO:0008004 familial mitral valve prolapse skos:exactMatch MEDGEN:573696 semapv:UnspecifiedMatching MONDO:0008004 familial mitral valve prolapse skos:exactMatch OMIMPS:157700 Mitral valve prolapse, myxomatous semapv:UnspecifiedMatching MONDO:0008004 familial mitral valve prolapse skos:exactMatch Orphanet:741 Familial mitral valve prolapse semapv:UnspecifiedMatching MONDO:0008004 familial mitral valve prolapse skos:exactMatch SCTID:233858000 semapv:UnspecifiedMatching MONDO:0008004 familial mitral valve prolapse skos:exactMatch UMLS:C0340364 semapv:UnspecifiedMatching MONDO:0008005 cardiospondylocarpofacial syndrome skos:exactMatch MEDGEN:444060 semapv:UnspecifiedMatching MONDO:0008005 cardiospondylocarpofacial syndrome skos:exactMatch NCIT:C188216 Cardiospondylocarpofacial Syndrome semapv:UnspecifiedMatching MONDO:0008005 cardiospondylocarpofacial syndrome skos:exactMatch OMIM:157800 cardiospondylocarpofacial syndrome semapv:UnspecifiedMatching MONDO:0008005 cardiospondylocarpofacial syndrome skos:exactMatch Orphanet:3238 Cardiospondylocarpofacial syndrome semapv:UnspecifiedMatching MONDO:0008005 cardiospondylocarpofacial syndrome skos:exactMatch SCTID:720612000 semapv:UnspecifiedMatching MONDO:0008005 cardiospondylocarpofacial syndrome skos:exactMatch UMLS:C2931461 semapv:UnspecifiedMatching MONDO:0008005 cardiospondylocarpofacial syndrome skos:exactMatch mesh:C563572 semapv:UnspecifiedMatching MONDO:0008006 Mobius syndrome skos:exactMatch DOID:13501 Moebius syndrome semapv:UnspecifiedMatching MONDO:0008006 Mobius syndrome skos:exactMatch MEDGEN:66357 semapv:UnspecifiedMatching MONDO:0008006 Mobius syndrome skos:exactMatch NCIT:C84893 Mobius Syndrome semapv:UnspecifiedMatching MONDO:0008006 Mobius syndrome skos:exactMatch OMIM:157900 moebius syndrome semapv:UnspecifiedMatching MONDO:0008006 Mobius syndrome skos:exactMatch Orphanet:570 Moebius syndrome semapv:UnspecifiedMatching MONDO:0008006 Mobius syndrome skos:exactMatch SCTID:89444000 semapv:UnspecifiedMatching MONDO:0008006 Mobius syndrome skos:exactMatch UMLS:C0221060 semapv:UnspecifiedMatching MONDO:0008006 Mobius syndrome skos:exactMatch mesh:D020331 semapv:UnspecifiedMatching MONDO:0008007 tooth ankylosis skos:exactMatch DOID:12661 tooth ankylosis semapv:UnspecifiedMatching MONDO:0008007 tooth ankylosis skos:exactMatch ICD10CM:K03.5 Ankylosis of teeth semapv:UnspecifiedMatching MONDO:0008007 tooth ankylosis skos:exactMatch MEDGEN:57843 semapv:UnspecifiedMatching MONDO:0008007 tooth ankylosis skos:exactMatch OMIM:157950 permanent molars, secondary retention of semapv:UnspecifiedMatching MONDO:0008007 tooth ankylosis skos:exactMatch Orphanet:1077 Dental ankylosis semapv:UnspecifiedMatching MONDO:0008007 tooth ankylosis skos:exactMatch SCTID:14901003 semapv:UnspecifiedMatching MONDO:0008007 tooth ankylosis skos:exactMatch UMLS:C0155930 semapv:UnspecifiedMatching MONDO:0008007 tooth ankylosis skos:exactMatch icd11.foundation:2066427602 Ankylosis of teeth semapv:UnspecifiedMatching MONDO:0008007 tooth ankylosis skos:exactMatch mesh:D020254 semapv:UnspecifiedMatching MONDO:0008008 MOMO syndrome skos:exactMatch MEDGEN:371897 semapv:UnspecifiedMatching MONDO:0008008 MOMO syndrome skos:exactMatch OMIM:157980 momo syndrome semapv:UnspecifiedMatching MONDO:0008008 MOMO syndrome skos:exactMatch Orphanet:2563 MOMO syndrome semapv:UnspecifiedMatching MONDO:0008008 MOMO syndrome skos:exactMatch SCTID:724137002 semapv:UnspecifiedMatching MONDO:0008008 MOMO syndrome skos:exactMatch UMLS:C1834759 semapv:UnspecifiedMatching MONDO:0008008 MOMO syndrome skos:exactMatch mesh:C535812 semapv:UnspecifiedMatching MONDO:0008009 monilethrix skos:exactMatch DOID:0050472 monilethrix semapv:UnspecifiedMatching MONDO:0008009 monilethrix skos:exactMatch MEDGEN:108185 semapv:UnspecifiedMatching MONDO:0008009 monilethrix skos:exactMatch NCIT:C84894 Monilethrix semapv:UnspecifiedMatching MONDO:0008009 monilethrix skos:exactMatch OMIMPS:158000 Monilethrix semapv:UnspecifiedMatching MONDO:0008009 monilethrix skos:exactMatch Orphanet:573 Monilethrix semapv:UnspecifiedMatching MONDO:0008009 monilethrix skos:exactMatch SCTID:69488000 semapv:UnspecifiedMatching MONDO:0008009 monilethrix skos:exactMatch UMLS:C0546966 semapv:UnspecifiedMatching MONDO:0008009 monilethrix skos:exactMatch icd11.foundation:415074833 Monilethrix semapv:UnspecifiedMatching MONDO:0008009 monilethrix skos:exactMatch mesh:D056734 semapv:UnspecifiedMatching MONDO:0008010 antigen defined by monoclonal antibody Aj9 skos:exactMatch MEDGEN:371896 semapv:UnspecifiedMatching MONDO:0008010 antigen defined by monoclonal antibody Aj9 skos:exactMatch OMIM:158030 antigen defined by monoclonal antibody aj9 semapv:UnspecifiedMatching MONDO:0008010 antigen defined by monoclonal antibody Aj9 skos:exactMatch UMLS:C1834757 semapv:UnspecifiedMatching MONDO:0008011 antigen defined by monoclonal antibody T87 skos:exactMatch MEDGEN:331821 semapv:UnspecifiedMatching MONDO:0008011 antigen defined by monoclonal antibody T87 skos:exactMatch OMIM:158040 antigen defined by monoclonal antibody t87 semapv:UnspecifiedMatching MONDO:0008011 antigen defined by monoclonal antibody T87 skos:exactMatch UMLS:C1834756 semapv:UnspecifiedMatching MONDO:0008012 Monophalangy of great toe skos:exactMatch MEDGEN:320429 semapv:UnspecifiedMatching MONDO:0008012 Monophalangy of great toe skos:exactMatch OMIM:158100 monophalangy of great toe semapv:UnspecifiedMatching MONDO:0008012 Monophalangy of great toe skos:exactMatch UMLS:C1834753 semapv:UnspecifiedMatching MONDO:0008012 Monophalangy of great toe skos:exactMatch mesh:C563570 semapv:UnspecifiedMatching MONDO:0008013 chromosome 9p deletion syndrome skos:exactMatch DOID:0060732 chromosome 9p deletion syndrome semapv:UnspecifiedMatching MONDO:0008013 chromosome 9p deletion syndrome skos:exactMatch MEDGEN:167073 semapv:UnspecifiedMatching MONDO:0008013 chromosome 9p deletion syndrome skos:exactMatch OMIM:158170 chromosome 9p deletion syndrome semapv:UnspecifiedMatching MONDO:0008013 chromosome 9p deletion syndrome skos:exactMatch Orphanet:261112 Monosomy 9p syndrome semapv:UnspecifiedMatching MONDO:0008013 chromosome 9p deletion syndrome skos:exactMatch SCTID:62599000 semapv:UnspecifiedMatching MONDO:0008013 chromosome 9p deletion syndrome skos:exactMatch UMLS:C0795830 semapv:UnspecifiedMatching MONDO:0008013 chromosome 9p deletion syndrome skos:exactMatch mesh:C538024 semapv:UnspecifiedMatching MONDO:0008014 nondisjunction skos:exactMatch MEDGEN:320427 semapv:UnspecifiedMatching MONDO:0008014 nondisjunction skos:exactMatch OMIM:158250 nondisjunction semapv:UnspecifiedMatching MONDO:0008014 nondisjunction skos:exactMatch UMLS:C1834741 semapv:UnspecifiedMatching MONDO:0008015 motion sickness skos:exactMatch DOID:2951 motion sickness semapv:UnspecifiedMatching MONDO:0008015 motion sickness skos:exactMatch ICD10CM:T75.3 Motion sickness semapv:UnspecifiedMatching MONDO:0008015 motion sickness skos:exactMatch MEDGEN:44503 semapv:UnspecifiedMatching MONDO:0008015 motion sickness skos:exactMatch OMIM:158280 motion sickness semapv:UnspecifiedMatching MONDO:0008015 motion sickness skos:exactMatch UMLS:C0026603 semapv:UnspecifiedMatching MONDO:0008015 motion sickness skos:exactMatch icd11.foundation:1078108554 Motion sickness semapv:UnspecifiedMatching MONDO:0008015 motion sickness skos:exactMatch mesh:D009041 semapv:UnspecifiedMatching MONDO:0008016 trismus-pseudocamptodactyly syndrome skos:exactMatch DOID:0111603 distal arthrogryposis type 7 semapv:UnspecifiedMatching MONDO:0008016 trismus-pseudocamptodactyly syndrome skos:exactMatch MEDGEN:78540 semapv:UnspecifiedMatching MONDO:0008016 trismus-pseudocamptodactyly syndrome skos:exactMatch OMIM:158300 arthrogryposis, distal, type 7 semapv:UnspecifiedMatching MONDO:0008016 trismus-pseudocamptodactyly syndrome skos:exactMatch Orphanet:3377 Trismus-pseudocamptodactyly syndrome semapv:UnspecifiedMatching MONDO:0008016 trismus-pseudocamptodactyly syndrome skos:exactMatch SCTID:8757006 semapv:UnspecifiedMatching MONDO:0008016 trismus-pseudocamptodactyly syndrome skos:exactMatch UMLS:C0265226 semapv:UnspecifiedMatching MONDO:0008016 trismus-pseudocamptodactyly syndrome skos:exactMatch mesh:C535857 semapv:UnspecifiedMatching MONDO:0008017 hereditary mucoepithelial dysplasia skos:exactMatch MEDGEN:220887 semapv:UnspecifiedMatching MONDO:0008017 hereditary mucoepithelial dysplasia skos:exactMatch OMIM:158310 mucoepithelial dysplasia, hereditary semapv:UnspecifiedMatching MONDO:0008017 hereditary mucoepithelial dysplasia skos:exactMatch Orphanet:1839 Hereditary mucoepithelial dysplasia semapv:UnspecifiedMatching MONDO:0008017 hereditary mucoepithelial dysplasia skos:exactMatch SCTID:403442005 semapv:UnspecifiedMatching MONDO:0008017 hereditary mucoepithelial dysplasia skos:exactMatch UMLS:C1274795 semapv:UnspecifiedMatching MONDO:0008017 hereditary mucoepithelial dysplasia skos:exactMatch icd11.foundation:1167609602 Hereditary mucoepithelial dysplasia semapv:UnspecifiedMatching MONDO:0008017 hereditary mucoepithelial dysplasia skos:exactMatch mesh:C536476 semapv:UnspecifiedMatching MONDO:0008018 Muir-Torre syndrome skos:exactMatch DOID:0050465 Muir-Torre syndrome semapv:UnspecifiedMatching MONDO:0008018 Muir-Torre syndrome skos:exactMatch MEDGEN:231157 semapv:UnspecifiedMatching MONDO:0008018 Muir-Torre syndrome skos:exactMatch NCIT:C84905 Muir-Torre Syndrome semapv:UnspecifiedMatching MONDO:0008018 Muir-Torre syndrome skos:exactMatch OMIM:158320 muir-torre syndrome semapv:UnspecifiedMatching MONDO:0008018 Muir-Torre syndrome skos:exactMatch SCTID:403824007 semapv:UnspecifiedMatching MONDO:0008018 Muir-Torre syndrome skos:exactMatch UMLS:C1321489 semapv:UnspecifiedMatching MONDO:0008018 Muir-Torre syndrome skos:exactMatch icd11.foundation:229304403 Muir-Torre syndrome semapv:UnspecifiedMatching MONDO:0008018 Muir-Torre syndrome skos:exactMatch mesh:D055653 semapv:UnspecifiedMatching MONDO:0008019 mullerian aplasia and hyperandrogenism skos:exactMatch DOID:0111526 Mullerian aplasia and hyperandrogenism semapv:UnspecifiedMatching MONDO:0008019 mullerian aplasia and hyperandrogenism skos:exactMatch MEDGEN:390686 semapv:UnspecifiedMatching MONDO:0008019 mullerian aplasia and hyperandrogenism skos:exactMatch NCIT:C120376 Mullerian Aplasia and Hyperandrogenism semapv:UnspecifiedMatching MONDO:0008019 mullerian aplasia and hyperandrogenism skos:exactMatch OMIM:158330 mullerian aplasia and hyperandrogenism semapv:UnspecifiedMatching MONDO:0008019 mullerian aplasia and hyperandrogenism skos:exactMatch Orphanet:247768 Müllerian aplasia and hyperandrogenism semapv:UnspecifiedMatching MONDO:0008019 mullerian aplasia and hyperandrogenism skos:exactMatch UMLS:C2675014 semapv:UnspecifiedMatching MONDO:0008019 mullerian aplasia and hyperandrogenism skos:exactMatch mesh:C567186 semapv:UnspecifiedMatching MONDO:0008020 multiple exostoses with spastic tetraparesis skos:exactMatch MEDGEN:371889 semapv:UnspecifiedMatching MONDO:0008020 multiple exostoses with spastic tetraparesis skos:exactMatch OMIM:158345 multiple exostoses with spastic tetraparesis semapv:UnspecifiedMatching MONDO:0008020 multiple exostoses with spastic tetraparesis skos:exactMatch UMLS:C1834724 semapv:UnspecifiedMatching MONDO:0008020 multiple exostoses with spastic tetraparesis skos:exactMatch mesh:C563566 semapv:UnspecifiedMatching MONDO:0008021 Cowden syndrome 1 skos:exactMatch OMIM:158350 cowden syndrome 1 semapv:UnspecifiedMatching MONDO:0008022 muscle cramps, familial skos:exactMatch MEDGEN:371885 semapv:UnspecifiedMatching MONDO:0008022 muscle cramps, familial skos:exactMatch OMIM:158400 muscle cramps, familial semapv:UnspecifiedMatching MONDO:0008022 muscle cramps, familial skos:exactMatch UMLS:C1834708 semapv:UnspecifiedMatching MONDO:0008022 muscle cramps, familial skos:exactMatch mesh:C563563 semapv:UnspecifiedMatching MONDO:0008023 muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome skos:exactMatch MEDGEN:137966 semapv:UnspecifiedMatching MONDO:0008023 muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome skos:exactMatch OMIM:158500 muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus semapv:UnspecifiedMatching MONDO:0008023 muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome skos:exactMatch Orphanet:2579 Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome semapv:UnspecifiedMatching MONDO:0008023 muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome skos:exactMatch SCTID:237611007 semapv:UnspecifiedMatching MONDO:0008023 muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome skos:exactMatch UMLS:C0342281 semapv:UnspecifiedMatching MONDO:0008024 neuronopathy, distal hereditary motor, type 7A skos:exactMatch MEDGEN:322474 semapv:UnspecifiedMatching MONDO:0008024 neuronopathy, distal hereditary motor, type 7A skos:exactMatch OMIM:158580 neuronopathy, distal hereditary motor, autosomal dominant 7 semapv:UnspecifiedMatching MONDO:0008024 neuronopathy, distal hereditary motor, type 7A skos:exactMatch UMLS:C1834703 semapv:UnspecifiedMatching MONDO:0008024 neuronopathy, distal hereditary motor, type 7A skos:exactMatch mesh:C563562 semapv:UnspecifiedMatching MONDO:0008025 neuronopathy, distal hereditary motor, type 2A skos:exactMatch MEDGEN:322471 semapv:UnspecifiedMatching MONDO:0008025 neuronopathy, distal hereditary motor, type 2A skos:exactMatch OMIM:158590 neuronopathy, distal hereditary motor, autosomal dominant 2 semapv:UnspecifiedMatching MONDO:0008025 neuronopathy, distal hereditary motor, type 2A skos:exactMatch UMLS:C1834692 semapv:UnspecifiedMatching MONDO:0008025 neuronopathy, distal hereditary motor, type 2A skos:exactMatch mesh:C563561 semapv:UnspecifiedMatching MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures skos:exactMatch DOID:0070351 spinal muscular atrophy with lower extremity predominant 1 semapv:UnspecifiedMatching MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures skos:exactMatch MEDGEN:1830501 semapv:UnspecifiedMatching MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures skos:exactMatch OMIM:158600 spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant semapv:UnspecifiedMatching MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures skos:exactMatch Orphanet:209341 DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy semapv:UnspecifiedMatching MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures skos:exactMatch UMLS:C5780022 semapv:UnspecifiedMatching MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures skos:exactMatch mesh:C563560 semapv:UnspecifiedMatching MONDO:0008027 muscular atrophy, malignant neurogenic skos:exactMatch MEDGEN:322469 semapv:UnspecifiedMatching MONDO:0008027 muscular atrophy, malignant neurogenic skos:exactMatch OMIM:158650 muscular atrophy, malignant neurogenic semapv:UnspecifiedMatching MONDO:0008027 muscular atrophy, malignant neurogenic skos:exactMatch UMLS:C1834689 semapv:UnspecifiedMatching MONDO:0008027 muscular atrophy, malignant neurogenic skos:exactMatch mesh:C563559 semapv:UnspecifiedMatching MONDO:0008028 muscular dystrophy, Barnes type skos:exactMatch MEDGEN:322468 semapv:UnspecifiedMatching MONDO:0008028 muscular dystrophy, Barnes type skos:exactMatch OMIM:158800 muscular dystrophy, barnes type semapv:UnspecifiedMatching MONDO:0008028 muscular dystrophy, Barnes type skos:exactMatch UMLS:C1834688 semapv:UnspecifiedMatching MONDO:0008028 muscular dystrophy, Barnes type skos:exactMatch mesh:C563558 semapv:UnspecifiedMatching MONDO:0008029 Bethlem myopathy skos:exactMatch DOID:0050663 Bethlem myopathy semapv:UnspecifiedMatching MONDO:0008029 Bethlem myopathy skos:exactMatch MEDGEN:331805 semapv:UnspecifiedMatching MONDO:0008029 Bethlem myopathy skos:exactMatch NCIT:C126688 Bethlem Myopathy 1 semapv:UnspecifiedMatching MONDO:0008029 Bethlem myopathy skos:exactMatch OMIMPS:158810 Bethlem myopathy semapv:UnspecifiedMatching MONDO:0008029 Bethlem myopathy skos:exactMatch Orphanet:610 Bethlem muscular dystrophy semapv:UnspecifiedMatching MONDO:0008029 Bethlem myopathy skos:exactMatch SCTID:718572004 semapv:UnspecifiedMatching MONDO:0008029 Bethlem myopathy skos:exactMatch UMLS:C1834674 semapv:UnspecifiedMatching MONDO:0008029 Bethlem myopathy skos:exactMatch icd11.foundation:72734329 Bethlem myopathy semapv:UnspecifiedMatching MONDO:0008029 Bethlem myopathy skos:exactMatch mesh:C535436 semapv:UnspecifiedMatching MONDO:0008030 facioscapulohumeral muscular dystrophy 1 skos:exactMatch DOID:0111192 facioscapulohumeral muscular dystrophy 1 semapv:UnspecifiedMatching MONDO:0008030 facioscapulohumeral muscular dystrophy 1 skos:exactMatch MEDGEN:1727901 semapv:UnspecifiedMatching MONDO:0008030 facioscapulohumeral muscular dystrophy 1 skos:exactMatch NCIT:C172704 Facioscapulohumeral Muscular Dystrophy 1 semapv:UnspecifiedMatching MONDO:0008030 facioscapulohumeral muscular dystrophy 1 skos:exactMatch OMIM:158900 facioscapulohumeral muscular dystrophy 1 semapv:UnspecifiedMatching MONDO:0008030 facioscapulohumeral muscular dystrophy 1 skos:exactMatch UMLS:C5399970 semapv:UnspecifiedMatching MONDO:0008030 facioscapulohumeral muscular dystrophy 1 skos:exactMatch mesh:C536391 semapv:UnspecifiedMatching MONDO:0008031 facioscapulohumeral muscular dystrophy 2 skos:exactMatch DOID:0111193 facioscapulohumeral muscular dystrophy 2 semapv:UnspecifiedMatching MONDO:0008031 facioscapulohumeral muscular dystrophy 2 skos:exactMatch MEDGEN:320405 semapv:UnspecifiedMatching MONDO:0008031 facioscapulohumeral muscular dystrophy 2 skos:exactMatch NCIT:C172705 Facioscapulohumeral Muscular Dystrophy 2 semapv:UnspecifiedMatching MONDO:0008031 facioscapulohumeral muscular dystrophy 2 skos:exactMatch OMIM:158901 facioscapulohumeral muscular dystrophy 2, digenic semapv:UnspecifiedMatching MONDO:0008031 facioscapulohumeral muscular dystrophy 2 skos:exactMatch UMLS:C1834671 semapv:UnspecifiedMatching MONDO:0008031 facioscapulohumeral muscular dystrophy 2 skos:exactMatch mesh:C563557 semapv:UnspecifiedMatching MONDO:0008034 muscular dystrophy, pseudohypertrophic, with Internalized capillaries skos:exactMatch MEDGEN:320399 semapv:UnspecifiedMatching MONDO:0008034 muscular dystrophy, pseudohypertrophic, with Internalized capillaries skos:exactMatch OMIM:159050 muscular dystrophy, pseudohypertrophic, with internalized capillaries semapv:UnspecifiedMatching MONDO:0008034 muscular dystrophy, pseudohypertrophic, with Internalized capillaries skos:exactMatch UMLS:C1834652 semapv:UnspecifiedMatching MONDO:0008034 muscular dystrophy, pseudohypertrophic, with Internalized capillaries skos:exactMatch mesh:C563554 semapv:UnspecifiedMatching MONDO:0008035 muscular hypoplasia, congenital universal, of Krabbe skos:exactMatch MEDGEN:320398 semapv:UnspecifiedMatching MONDO:0008035 muscular hypoplasia, congenital universal, of Krabbe skos:exactMatch OMIM:159100 muscular hypoplasia, congenital universal, of krabbe semapv:UnspecifiedMatching MONDO:0008035 muscular hypoplasia, congenital universal, of Krabbe skos:exactMatch UMLS:C1834651 semapv:UnspecifiedMatching MONDO:0008035 muscular hypoplasia, congenital universal, of Krabbe skos:exactMatch mesh:C563553 semapv:UnspecifiedMatching MONDO:0008036 myasthenia, limb-girdle, autoimmune skos:exactMatch MEDGEN:331795 semapv:UnspecifiedMatching MONDO:0008036 myasthenia, limb-girdle, autoimmune skos:exactMatch OMIM:159400 myasthenia, limb-girdle, autoimmune semapv:UnspecifiedMatching MONDO:0008036 myasthenia, limb-girdle, autoimmune skos:exactMatch UMLS:C1834635 semapv:UnspecifiedMatching MONDO:0008036 myasthenia, limb-girdle, autoimmune skos:exactMatch mesh:C563552 semapv:UnspecifiedMatching MONDO:0008037 myelinated optic nerve fibers skos:exactMatch MEDGEN:320388 semapv:UnspecifiedMatching MONDO:0008037 myelinated optic nerve fibers skos:exactMatch OMIM:159500 myelinated optic nerve fibers semapv:UnspecifiedMatching MONDO:0008037 myelinated optic nerve fibers skos:exactMatch UMLS:C1834600 semapv:UnspecifiedMatching MONDO:0008038 ataxia-pancytopenia syndrome skos:exactMatch MEDGEN:230896 semapv:UnspecifiedMatching MONDO:0008038 ataxia-pancytopenia syndrome skos:exactMatch NCIT:C176909 Ataxia-Pancytopenia Syndrome semapv:UnspecifiedMatching MONDO:0008038 ataxia-pancytopenia syndrome skos:exactMatch OMIM:159550 ataxia-pancytopenia syndrome semapv:UnspecifiedMatching MONDO:0008038 ataxia-pancytopenia syndrome skos:exactMatch Orphanet:2585 Ataxia-pancytopenia syndrome semapv:UnspecifiedMatching MONDO:0008038 ataxia-pancytopenia syndrome skos:exactMatch SCTID:768556005 semapv:UnspecifiedMatching MONDO:0008038 ataxia-pancytopenia syndrome skos:exactMatch UMLS:C1327919 semapv:UnspecifiedMatching MONDO:0008038 ataxia-pancytopenia syndrome skos:exactMatch mesh:C563233 semapv:UnspecifiedMatching MONDO:0008039 tropical spastic paraparesis skos:exactMatch DOID:321 HTLV-1-associated myelopathy/tropical spastic paraparesis semapv:UnspecifiedMatching MONDO:0008039 tropical spastic paraparesis skos:exactMatch EFO:0007527 semapv:UnspecifiedMatching MONDO:0008039 tropical spastic paraparesis skos:exactMatch ICD10CM:G04.1 Tropical spastic paraplegia semapv:UnspecifiedMatching MONDO:0008039 tropical spastic paraparesis skos:exactMatch MEDGEN:18298 semapv:UnspecifiedMatching MONDO:0008039 tropical spastic paraparesis skos:exactMatch OMIM:159580 myelopathy, htlv-1-associated semapv:UnspecifiedMatching MONDO:0008039 tropical spastic paraparesis skos:exactMatch Orphanet:289326 Tropical spastic paraparesis semapv:UnspecifiedMatching MONDO:0008039 tropical spastic paraparesis skos:exactMatch SCTID:714279000 semapv:UnspecifiedMatching MONDO:0008039 tropical spastic paraparesis skos:exactMatch UMLS:C0030481 semapv:UnspecifiedMatching MONDO:0008039 tropical spastic paraparesis skos:exactMatch icd11.foundation:1043229589 Human T-cell lymphotropic virus-associated myelopathy semapv:UnspecifiedMatching MONDO:0008039 tropical spastic paraparesis skos:exactMatch mesh:D015493 semapv:UnspecifiedMatching MONDO:0008040 transient myeloproliferative syndrome skos:exactMatch DOID:0060888 transient myeloproliferative syndrome semapv:UnspecifiedMatching MONDO:0008040 transient myeloproliferative syndrome skos:exactMatch MEDGEN:331782 semapv:UnspecifiedMatching MONDO:0008040 transient myeloproliferative syndrome skos:exactMatch NCIT:C82339 Transient Abnormal Myelopoiesis Associated with Down Syndrome semapv:UnspecifiedMatching MONDO:0008040 transient myeloproliferative syndrome skos:exactMatch OMIM:159595 myeloproliferative syndrome, transient semapv:UnspecifiedMatching MONDO:0008040 transient myeloproliferative syndrome skos:exactMatch Orphanet:420611 Transient myeloproliferative syndrome semapv:UnspecifiedMatching MONDO:0008040 transient myeloproliferative syndrome skos:exactMatch SCTID:721307000 semapv:UnspecifiedMatching MONDO:0008040 transient myeloproliferative syndrome skos:exactMatch UMLS:C1834582 semapv:UnspecifiedMatching MONDO:0008040 transient myeloproliferative syndrome skos:exactMatch mesh:C563551 semapv:UnspecifiedMatching MONDO:0008041 myoclonic epilepsy, Hartung type skos:exactMatch MEDGEN:371857 semapv:UnspecifiedMatching MONDO:0008041 myoclonic epilepsy, Hartung type skos:exactMatch OMIM:159600 myoclonic epilepsy, hartung type semapv:UnspecifiedMatching MONDO:0008041 myoclonic epilepsy, Hartung type skos:exactMatch UMLS:C1834581 semapv:UnspecifiedMatching MONDO:0008041 myoclonic epilepsy, Hartung type skos:exactMatch mesh:C563550 semapv:UnspecifiedMatching MONDO:0008043 myoclonus-cerebellar ataxia-deafness syndrome skos:exactMatch MEDGEN:331780 semapv:UnspecifiedMatching MONDO:0008043 myoclonus-cerebellar ataxia-deafness syndrome skos:exactMatch OMIM:159800 myoclonus, cerebellar ataxia, and deafness semapv:UnspecifiedMatching MONDO:0008043 myoclonus-cerebellar ataxia-deafness syndrome skos:exactMatch Orphanet:2589 Myoclonus-cerebellar ataxia-deafness syndrome semapv:UnspecifiedMatching MONDO:0008043 myoclonus-cerebellar ataxia-deafness syndrome skos:exactMatch UMLS:C1834579 semapv:UnspecifiedMatching MONDO:0008043 myoclonus-cerebellar ataxia-deafness syndrome skos:exactMatch mesh:C563549 semapv:UnspecifiedMatching MONDO:0008044 myoclonic dystonia 11 skos:exactMatch DOID:0090034 myoclonic dystonia 11 semapv:UnspecifiedMatching MONDO:0008044 myoclonic dystonia 11 skos:exactMatch MEDGEN:331778 semapv:UnspecifiedMatching MONDO:0008044 myoclonic dystonia 11 skos:exactMatch OMIM:159900 dystonia 11, myoclonic semapv:UnspecifiedMatching MONDO:0008044 myoclonic dystonia 11 skos:exactMatch UMLS:C1834570 semapv:UnspecifiedMatching MONDO:0008045 spinal muscular atrophy-progressive myoclonic epilepsy syndrome skos:exactMatch DOID:0111527 spinal muscular atrophy with progressive myoclonic epilepsy semapv:UnspecifiedMatching MONDO:0008045 spinal muscular atrophy-progressive myoclonic epilepsy syndrome skos:exactMatch MEDGEN:371854 semapv:UnspecifiedMatching MONDO:0008045 spinal muscular atrophy-progressive myoclonic epilepsy syndrome skos:exactMatch OMIM:159950 spinal muscular atrophy with progressive myoclonic epilepsy semapv:UnspecifiedMatching MONDO:0008045 spinal muscular atrophy-progressive myoclonic epilepsy syndrome skos:exactMatch Orphanet:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome semapv:UnspecifiedMatching MONDO:0008045 spinal muscular atrophy-progressive myoclonic epilepsy syndrome skos:exactMatch SCTID:703524005 semapv:UnspecifiedMatching MONDO:0008045 spinal muscular atrophy-progressive myoclonic epilepsy syndrome skos:exactMatch UMLS:C1834569 semapv:UnspecifiedMatching MONDO:0008045 spinal muscular atrophy-progressive myoclonic epilepsy syndrome skos:exactMatch mesh:C537563 semapv:UnspecifiedMatching MONDO:0008046 autosomal dominant myoglobinuria skos:exactMatch MEDGEN:320384 semapv:UnspecifiedMatching MONDO:0008046 autosomal dominant myoglobinuria skos:exactMatch OMIM:160010 myoglobinuria, autosomal dominant semapv:UnspecifiedMatching MONDO:0008046 autosomal dominant myoglobinuria skos:exactMatch Orphanet:99846 Autosomal dominant myoglobinuria semapv:UnspecifiedMatching MONDO:0008046 autosomal dominant myoglobinuria skos:exactMatch SCTID:725903003 semapv:UnspecifiedMatching MONDO:0008046 autosomal dominant myoglobinuria skos:exactMatch UMLS:C1834567 semapv:UnspecifiedMatching MONDO:0008046 autosomal dominant myoglobinuria skos:exactMatch icd11.foundation:149859272 Autosomal dominant myoglobinuria semapv:UnspecifiedMatching MONDO:0008046 autosomal dominant myoglobinuria skos:exactMatch mesh:C563546 semapv:UnspecifiedMatching MONDO:0008047 episodic ataxia type 1 skos:exactMatch DOID:0050989 episodic ataxia type 1 semapv:UnspecifiedMatching MONDO:0008047 episodic ataxia type 1 skos:exactMatch MEDGEN:318554 semapv:UnspecifiedMatching MONDO:0008047 episodic ataxia type 1 skos:exactMatch OMIM:160120 episodic ataxia, type 1 semapv:UnspecifiedMatching MONDO:0008047 episodic ataxia type 1 skos:exactMatch Orphanet:37612 Episodic ataxia type 1 semapv:UnspecifiedMatching MONDO:0008047 episodic ataxia type 1 skos:exactMatch SCTID:421182009 semapv:UnspecifiedMatching MONDO:0008047 episodic ataxia type 1 skos:exactMatch UMLS:C1719788 semapv:UnspecifiedMatching MONDO:0008048 autosomal dominant centronuclear myopathy skos:exactMatch DOID:0111217 autosomal dominant centronuclear myopathy semapv:UnspecifiedMatching MONDO:0008048 autosomal dominant centronuclear myopathy skos:exactMatch DOID:0111223 centronuclear myopathy 1 semapv:UnspecifiedMatching MONDO:0008048 autosomal dominant centronuclear myopathy skos:exactMatch MEDGEN:1645741 semapv:UnspecifiedMatching MONDO:0008048 autosomal dominant centronuclear myopathy skos:exactMatch NCIT:C126689 Centronuclear Myopathy 1 semapv:UnspecifiedMatching MONDO:0008048 autosomal dominant centronuclear myopathy skos:exactMatch OMIM:160150 myopathy, centronuclear, 1 semapv:UnspecifiedMatching MONDO:0008048 autosomal dominant centronuclear myopathy skos:exactMatch Orphanet:169189 Autosomal dominant centronuclear myopathy semapv:UnspecifiedMatching MONDO:0008048 autosomal dominant centronuclear myopathy skos:exactMatch SCTID:716696006 semapv:UnspecifiedMatching MONDO:0008048 autosomal dominant centronuclear myopathy skos:exactMatch UMLS:C4551952 semapv:UnspecifiedMatching MONDO:0008049 myopathy, distal, infantile-onset skos:exactMatch DOID:0070196 infantile-onset distal myopathy semapv:UnspecifiedMatching MONDO:0008049 myopathy, distal, infantile-onset skos:exactMatch MEDGEN:860162 semapv:UnspecifiedMatching MONDO:0008049 myopathy, distal, infantile-onset skos:exactMatch OMIM:160300 myopathy, distal, infantile-onset semapv:UnspecifiedMatching MONDO:0008049 myopathy, distal, infantile-onset skos:exactMatch UMLS:C4011725 semapv:UnspecifiedMatching MONDO:0008050 MYH7-related skeletal myopathy skos:exactMatch DOID:0070197 distal myopathy 1 semapv:UnspecifiedMatching MONDO:0008050 MYH7-related skeletal myopathy skos:exactMatch MEDGEN:1647391 semapv:UnspecifiedMatching MONDO:0008050 MYH7-related skeletal myopathy skos:exactMatch OMIM:160500 myopathy, distal, 1 semapv:UnspecifiedMatching MONDO:0008050 MYH7-related skeletal myopathy skos:exactMatch Orphanet:59135 Laing distal myopathy semapv:UnspecifiedMatching MONDO:0008050 MYH7-related skeletal myopathy skos:exactMatch SCTID:764859001 semapv:UnspecifiedMatching MONDO:0008050 MYH7-related skeletal myopathy skos:exactMatch UMLS:C4552004 semapv:UnspecifiedMatching MONDO:0008051 tubular aggregate myopathy skos:exactMatch DOID:0080089 tubular aggregate myopathy 1 semapv:UnspecifiedMatching MONDO:0008051 tubular aggregate myopathy skos:exactMatch MEDGEN:98050 semapv:UnspecifiedMatching MONDO:0008051 tubular aggregate myopathy skos:exactMatch OMIMPS:160565 Myopathy, tubular aggregate semapv:UnspecifiedMatching MONDO:0008051 tubular aggregate myopathy skos:exactMatch Orphanet:2593 Tubular aggregate myopathy semapv:UnspecifiedMatching MONDO:0008051 tubular aggregate myopathy skos:exactMatch UMLS:C0410207 semapv:UnspecifiedMatching MONDO:0008052 myopathy with storage of glycoproteins and Glycosaminoglycans skos:exactMatch MEDGEN:371846 semapv:UnspecifiedMatching MONDO:0008052 myopathy with storage of glycoproteins and Glycosaminoglycans skos:exactMatch OMIM:160570 myopathy with storage of glycoproteins and glycosaminoglycans semapv:UnspecifiedMatching MONDO:0008052 myopathy with storage of glycoproteins and Glycosaminoglycans skos:exactMatch UMLS:C1834532 semapv:UnspecifiedMatching MONDO:0008052 myopathy with storage of glycoproteins and Glycosaminoglycans skos:exactMatch mesh:C563542 semapv:UnspecifiedMatching MONDO:0008053 myopia 2, autosomal dominant skos:exactMatch MEDGEN:331770 semapv:UnspecifiedMatching MONDO:0008053 myopia 2, autosomal dominant skos:exactMatch OMIM:160700 myopia 2, autosomal dominant semapv:UnspecifiedMatching MONDO:0008053 myopia 2, autosomal dominant skos:exactMatch UMLS:C1834531 semapv:UnspecifiedMatching MONDO:0008053 myopia 2, autosomal dominant skos:exactMatch mesh:C563541 semapv:UnspecifiedMatching MONDO:0008054 juvenile dermatomyositis skos:exactMatch DOID:14203 childhood type dermatomyositis semapv:UnspecifiedMatching MONDO:0008054 juvenile dermatomyositis skos:exactMatch EFO:0000557 semapv:UnspecifiedMatching MONDO:0008054 juvenile dermatomyositis skos:exactMatch ICD10CM:M33.0 Juvenile dermatomyositis semapv:UnspecifiedMatching MONDO:0008054 juvenile dermatomyositis skos:exactMatch MEDGEN:120486 semapv:UnspecifiedMatching MONDO:0008054 juvenile dermatomyositis skos:exactMatch NCIT:C27576 Childhood Dermatomyositis semapv:UnspecifiedMatching MONDO:0008054 juvenile dermatomyositis skos:exactMatch Orphanet:93672 Juvenile dermatomyositis semapv:UnspecifiedMatching MONDO:0008054 juvenile dermatomyositis skos:exactMatch SCTID:1212005 semapv:UnspecifiedMatching MONDO:0008054 juvenile dermatomyositis skos:exactMatch UMLS:C0263666 semapv:UnspecifiedMatching MONDO:0008054 juvenile dermatomyositis skos:exactMatch icd11.foundation:1428089375 Juvenile dermatomyositis semapv:UnspecifiedMatching MONDO:0008055 myotonia congenita, autosomal dominant skos:exactMatch DOID:0081336 Thomsen disease semapv:UnspecifiedMatching MONDO:0008055 myotonia congenita, autosomal dominant skos:exactMatch MEDGEN:422446 semapv:UnspecifiedMatching MONDO:0008055 myotonia congenita, autosomal dominant skos:exactMatch OMIM:160800 myotonia congenita, autosomal dominant semapv:UnspecifiedMatching MONDO:0008055 myotonia congenita, autosomal dominant skos:exactMatch SCTID:57938005 semapv:UnspecifiedMatching MONDO:0008055 myotonia congenita, autosomal dominant skos:exactMatch UMLS:C2936781 semapv:UnspecifiedMatching MONDO:0008056 myotonic dystrophy type 1 skos:exactMatch DOID:11722 myotonic dystrophy type 1 semapv:UnspecifiedMatching MONDO:0008056 myotonic dystrophy type 1 skos:exactMatch MEDGEN:886881 semapv:UnspecifiedMatching MONDO:0008056 myotonic dystrophy type 1 skos:exactMatch NCIT:C84679 Dystrophia Myotonica 1 semapv:UnspecifiedMatching MONDO:0008056 myotonic dystrophy type 1 skos:exactMatch OMIM:160900 myotonic dystrophy 1 semapv:UnspecifiedMatching MONDO:0008056 myotonic dystrophy type 1 skos:exactMatch Orphanet:273 Steinert myotonic dystrophy semapv:UnspecifiedMatching MONDO:0008056 myotonic dystrophy type 1 skos:exactMatch UMLS:C3250443 semapv:UnspecifiedMatching MONDO:0008056 myotonic dystrophy type 1 skos:exactMatch icd11.foundation:557405480 Myotonic dystrophy type 1 semapv:UnspecifiedMatching MONDO:0008057 Carney complex, type 1 skos:exactMatch MEDGEN:388559 semapv:UnspecifiedMatching MONDO:0008057 Carney complex, type 1 skos:exactMatch OMIM:160980 carney complex, type 1 semapv:UnspecifiedMatching MONDO:0008057 Carney complex, type 1 skos:exactMatch UMLS:C2607929 semapv:UnspecifiedMatching MONDO:0008058 cylindrical spirals myopathy skos:exactMatch DOID:0080103 cylindrical spirals myopathy semapv:UnspecifiedMatching MONDO:0008058 cylindrical spirals myopathy skos:exactMatch MEDGEN:371817 semapv:UnspecifiedMatching MONDO:0008058 cylindrical spirals myopathy skos:exactMatch OMIM:160990 myotonic myopathy with cylindrical spirals semapv:UnspecifiedMatching MONDO:0008058 cylindrical spirals myopathy skos:exactMatch Orphanet:171886 Cylindrical spirals myopathy semapv:UnspecifiedMatching MONDO:0008058 cylindrical spirals myopathy skos:exactMatch SCTID:764525006 semapv:UnspecifiedMatching MONDO:0008058 cylindrical spirals myopathy skos:exactMatch UMLS:C1834418 semapv:UnspecifiedMatching MONDO:0008058 cylindrical spirals myopathy skos:exactMatch icd11.foundation:1555346098 Cylindrical spirals myopathy semapv:UnspecifiedMatching MONDO:0008058 cylindrical spirals myopathy skos:exactMatch mesh:C563535 semapv:UnspecifiedMatching MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome skos:exactMatch DOID:0111528 Naegeli-Franceschetti-Jadassohn syndrome semapv:UnspecifiedMatching MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome skos:exactMatch MEDGEN:91010 semapv:UnspecifiedMatching MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome skos:exactMatch OMIM:161000 naegeli-franceschetti-jadassohn syndrome semapv:UnspecifiedMatching MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome skos:exactMatch Orphanet:69087 Naegeli-Franceschetti-Jadassohn syndrome semapv:UnspecifiedMatching MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome skos:exactMatch SCTID:239084001 semapv:UnspecifiedMatching MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome skos:exactMatch UMLS:C0343111 semapv:UnspecifiedMatching MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome skos:exactMatch icd11.foundation:352035640 Naegeli-Franceschetti-Jadassohn syndrome semapv:UnspecifiedMatching MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome skos:exactMatch mesh:C538331 semapv:UnspecifiedMatching MONDO:0008060 nonsyndromic congenital nail disorder 1 skos:exactMatch DOID:0080079 nonsyndromic congenital nail disorder 1 semapv:UnspecifiedMatching MONDO:0008060 nonsyndromic congenital nail disorder 1 skos:exactMatch MEDGEN:96056 semapv:UnspecifiedMatching MONDO:0008060 nonsyndromic congenital nail disorder 1 skos:exactMatch OMIM:161050 nail disorder, nonsyndromic congenital, 1 semapv:UnspecifiedMatching MONDO:0008060 nonsyndromic congenital nail disorder 1 skos:exactMatch Orphanet:79153 Idiopathic trachyonychia semapv:UnspecifiedMatching MONDO:0008060 nonsyndromic congenital nail disorder 1 skos:exactMatch SCTID:238719003 semapv:UnspecifiedMatching MONDO:0008060 nonsyndromic congenital nail disorder 1 skos:exactMatch UMLS:C0406443 semapv:UnspecifiedMatching MONDO:0008060 nonsyndromic congenital nail disorder 1 skos:exactMatch mesh:C562907 semapv:UnspecifiedMatching MONDO:0008061 nail-patella syndrome skos:exactMatch DOID:9467 nail-patella syndrome semapv:UnspecifiedMatching MONDO:0008061 nail-patella syndrome skos:exactMatch MEDGEN:10257 semapv:UnspecifiedMatching MONDO:0008061 nail-patella syndrome skos:exactMatch NCIT:C75120 Nail-Patella Syndrome semapv:UnspecifiedMatching MONDO:0008061 nail-patella syndrome skos:exactMatch OMIM:161200 nail-patella syndrome semapv:UnspecifiedMatching MONDO:0008061 nail-patella syndrome skos:exactMatch Orphanet:2614 Nail-patella syndrome semapv:UnspecifiedMatching MONDO:0008061 nail-patella syndrome skos:exactMatch SCTID:22199006 semapv:UnspecifiedMatching MONDO:0008061 nail-patella syndrome skos:exactMatch UMLS:C0027341 semapv:UnspecifiedMatching MONDO:0008061 nail-patella syndrome skos:exactMatch icd11.foundation:1121867410 Nail-patella syndrome semapv:UnspecifiedMatching MONDO:0008061 nail-patella syndrome skos:exactMatch mesh:D009261 semapv:UnspecifiedMatching MONDO:0008062 narcolepsy 1 skos:exactMatch MEDGEN:371809 semapv:UnspecifiedMatching MONDO:0008062 narcolepsy 1 skos:exactMatch NCIT:C84618 Cataplexy semapv:UnspecifiedMatching MONDO:0008062 narcolepsy 1 skos:exactMatch OMIM:161400 narcolepsy 1 semapv:UnspecifiedMatching MONDO:0008062 narcolepsy 1 skos:exactMatch SCTID:46263000 semapv:UnspecifiedMatching MONDO:0008062 narcolepsy 1 skos:exactMatch UMLS:C1834372 semapv:UnspecifiedMatching MONDO:0008062 narcolepsy 1 skos:exactMatch mesh:C563534 semapv:UnspecifiedMatching MONDO:0008063 nasal alar collapse, bilateral skos:exactMatch MEDGEN:331728 semapv:UnspecifiedMatching MONDO:0008063 nasal alar collapse, bilateral skos:exactMatch OMIM:161470 nasal alar collapse, bilateral semapv:UnspecifiedMatching MONDO:0008063 nasal alar collapse, bilateral skos:exactMatch UMLS:C1834371 semapv:UnspecifiedMatching MONDO:0008063 nasal alar collapse, bilateral skos:exactMatch mesh:C563533 semapv:UnspecifiedMatching MONDO:0008064 nasal bones, absence of skos:exactMatch MEDGEN:90946 semapv:UnspecifiedMatching MONDO:0008064 nasal bones, absence of skos:exactMatch OMIM:161480 nasal bones, absence of semapv:UnspecifiedMatching MONDO:0008064 nasal bones, absence of skos:exactMatch UMLS:C0339851 semapv:UnspecifiedMatching MONDO:0008064 nasal bones, absence of skos:exactMatch mesh:C562753 semapv:UnspecifiedMatching MONDO:0008065 nasal groove, familial transverse skos:exactMatch MEDGEN:322400 semapv:UnspecifiedMatching MONDO:0008065 nasal groove, familial transverse skos:exactMatch OMIM:161500 nasal groove, familial transverse semapv:UnspecifiedMatching MONDO:0008065 nasal groove, familial transverse skos:exactMatch UMLS:C1834370 semapv:UnspecifiedMatching MONDO:0008066 nasal hyperpigmentation, familial transverse skos:exactMatch MEDGEN:331727 semapv:UnspecifiedMatching MONDO:0008066 nasal hyperpigmentation, familial transverse skos:exactMatch OMIM:161530 nasal hyperpigmentation, familial transverse semapv:UnspecifiedMatching MONDO:0008066 nasal hyperpigmentation, familial transverse skos:exactMatch UMLS:C1834369 semapv:UnspecifiedMatching MONDO:0008067 nasopharyngeal carcinoma, susceptibility to, 2 skos:exactMatch MEDGEN:413336 semapv:UnspecifiedMatching MONDO:0008067 nasopharyngeal carcinoma, susceptibility to, 2 skos:exactMatch OMIM:161550 nasopharyngeal carcinoma, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0008067 nasopharyngeal carcinoma, susceptibility to, 2 skos:exactMatch UMLS:C2750548 semapv:UnspecifiedMatching MONDO:0008068 obsolete navicular bone, accessory skos:exactMatch OMIM:161600 navicular bone, accessory semapv:UnspecifiedMatching MONDO:0008068 obsolete navicular bone, accessory skos:exactMatch mesh:C536002 semapv:UnspecifiedMatching MONDO:0008069 necrotizing encephalomyelopathy, subacute, of Leigh, adult skos:exactMatch MEDGEN:331718 semapv:UnspecifiedMatching MONDO:0008069 necrotizing encephalomyelopathy, subacute, of Leigh, adult skos:exactMatch OMIM:161700 necrotizing encephalomyelopathy, subacute, of leigh, adult semapv:UnspecifiedMatching MONDO:0008069 necrotizing encephalomyelopathy, subacute, of Leigh, adult skos:exactMatch UMLS:C1834340 semapv:UnspecifiedMatching MONDO:0008069 necrotizing encephalomyelopathy, subacute, of Leigh, adult skos:exactMatch mesh:C563530 semapv:UnspecifiedMatching MONDO:0008070 congenital myopathy 2a, typical, autosomal dominant skos:exactMatch DOID:0110927 nemaline myopathy 3 semapv:UnspecifiedMatching MONDO:0008070 congenital myopathy 2a, typical, autosomal dominant skos:exactMatch MEDGEN:777997 semapv:UnspecifiedMatching MONDO:0008070 congenital myopathy 2a, typical, autosomal dominant skos:exactMatch NCIT:C129870 Nemaline Myopathy 3 semapv:UnspecifiedMatching MONDO:0008070 congenital myopathy 2a, typical, autosomal dominant skos:exactMatch OMIM:161800 congenital myopathy 2a, typical, autosomal dominant semapv:UnspecifiedMatching MONDO:0008070 congenital myopathy 2a, typical, autosomal dominant skos:exactMatch Orphanet:98904 Congenital myopathy with excess of thin filaments semapv:UnspecifiedMatching MONDO:0008070 congenital myopathy 2a, typical, autosomal dominant skos:exactMatch SCTID:702349003 semapv:UnspecifiedMatching MONDO:0008070 congenital myopathy 2a, typical, autosomal dominant skos:exactMatch UMLS:C3711389 semapv:UnspecifiedMatching MONDO:0008070 congenital myopathy 2a, typical, autosomal dominant skos:exactMatch mesh:C579880 semapv:UnspecifiedMatching MONDO:0008070 congenital myopathy 2a, typical, autosomal dominant skos:exactMatch mesh:C580202 semapv:UnspecifiedMatching MONDO:0008071 autosomal dominant progressive nephropathy with hypertension skos:exactMatch MEDGEN:98012 semapv:UnspecifiedMatching MONDO:0008071 autosomal dominant progressive nephropathy with hypertension skos:exactMatch OMIM:161900 renal failure, progressive, with hypertension semapv:UnspecifiedMatching MONDO:0008071 autosomal dominant progressive nephropathy with hypertension skos:exactMatch Orphanet:88659 Autosomal dominant progressive nephropathy with hypertension semapv:UnspecifiedMatching MONDO:0008071 autosomal dominant progressive nephropathy with hypertension skos:exactMatch SCTID:703310005 semapv:UnspecifiedMatching MONDO:0008071 autosomal dominant progressive nephropathy with hypertension skos:exactMatch UMLS:C0403443 semapv:UnspecifiedMatching MONDO:0008071 autosomal dominant progressive nephropathy with hypertension skos:exactMatch icd11.foundation:1997246041 Autosomal dominant progressive nephropathy with hypertension semapv:UnspecifiedMatching MONDO:0008071 autosomal dominant progressive nephropathy with hypertension skos:exactMatch mesh:C562889 semapv:UnspecifiedMatching MONDO:0008072 IgA nephropathy, susceptibility to, 1 skos:exactMatch MEDGEN:463619 semapv:UnspecifiedMatching MONDO:0008072 IgA nephropathy, susceptibility to, 1 skos:exactMatch OMIM:161950 iga nephropathy, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0008072 IgA nephropathy, susceptibility to, 1 skos:exactMatch UMLS:C3160719 semapv:UnspecifiedMatching MONDO:0008073 familial juvenile hyperuricemic nephropathy type 1 skos:exactMatch DOID:0061122 autosomal dominant tubulointerstitial kidney disease 1 semapv:UnspecifiedMatching MONDO:0008073 familial juvenile hyperuricemic nephropathy type 1 skos:exactMatch MEDGEN:1645893 semapv:UnspecifiedMatching MONDO:0008073 familial juvenile hyperuricemic nephropathy type 1 skos:exactMatch NCIT:C123172 Medullary Cystic Kidney Disease Type II semapv:UnspecifiedMatching MONDO:0008073 familial juvenile hyperuricemic nephropathy type 1 skos:exactMatch OMIM:162000 tubulointerstitial kidney disease, autosomal dominant 1 semapv:UnspecifiedMatching MONDO:0008073 familial juvenile hyperuricemic nephropathy type 1 skos:exactMatch Orphanet:88950 UMOD-related autosomal dominant tubulointerstitial kidney disease semapv:UnspecifiedMatching MONDO:0008073 familial juvenile hyperuricemic nephropathy type 1 skos:exactMatch SCTID:445503007 semapv:UnspecifiedMatching MONDO:0008073 familial juvenile hyperuricemic nephropathy type 1 skos:exactMatch UMLS:C4551496 semapv:UnspecifiedMatching MONDO:0008073 familial juvenile hyperuricemic nephropathy type 1 skos:exactMatch mesh:C563693 semapv:UnspecifiedMatching MONDO:0008074 obsolete nerve growth factor, alpha subunit skos:exactMatch OMIM:162020 semapv:UnspecifiedMatching MONDO:0008075 schwannomatosis skos:exactMatch DOID:3204 schwannomatosis semapv:UnspecifiedMatching MONDO:0008075 schwannomatosis skos:exactMatch ICD10CM:Q85.03 Schwannomatosis semapv:UnspecifiedMatching MONDO:0008075 schwannomatosis skos:exactMatch MEDGEN:234775 semapv:UnspecifiedMatching MONDO:0008075 schwannomatosis skos:exactMatch NCIT:C6557 Schwannomatosis semapv:UnspecifiedMatching MONDO:0008075 schwannomatosis skos:exactMatch OMIMPS:162091 Schwannomatosis semapv:UnspecifiedMatching MONDO:0008075 schwannomatosis skos:exactMatch Orphanet:93921 Full schwannomatosis semapv:UnspecifiedMatching MONDO:0008075 schwannomatosis skos:exactMatch UMLS:C1335929 semapv:UnspecifiedMatching MONDO:0008076 amyotrophic neuralgia skos:exactMatch DOID:10383 amyotrophic neuralgia semapv:UnspecifiedMatching MONDO:0008076 amyotrophic neuralgia skos:exactMatch MEDGEN:320318 semapv:UnspecifiedMatching MONDO:0008076 amyotrophic neuralgia skos:exactMatch OMIM:162100 amyotrophy, hereditary neuralgic semapv:UnspecifiedMatching MONDO:0008076 amyotrophic neuralgia skos:exactMatch SCTID:26609002 semapv:UnspecifiedMatching MONDO:0008076 amyotrophic neuralgia skos:exactMatch UMLS:C1834304 semapv:UnspecifiedMatching MONDO:0008078 neurofibromatosis, familial spinal skos:exactMatch DOID:0070482 spinal neurofibromatosis semapv:UnspecifiedMatching MONDO:0008078 neurofibromatosis, familial spinal skos:exactMatch MEDGEN:320296 semapv:UnspecifiedMatching MONDO:0008078 neurofibromatosis, familial spinal skos:exactMatch OMIM:162210 neurofibromatosis, familial spinal semapv:UnspecifiedMatching MONDO:0008078 neurofibromatosis, familial spinal skos:exactMatch UMLS:C1834235 semapv:UnspecifiedMatching MONDO:0008078 neurofibromatosis, familial spinal skos:exactMatch mesh:C563523 semapv:UnspecifiedMatching MONDO:0008079 neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome skos:exactMatch MEDGEN:331696 semapv:UnspecifiedMatching MONDO:0008079 neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome skos:exactMatch OMIM:162240 neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome semapv:UnspecifiedMatching MONDO:0008079 neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome skos:exactMatch UMLS:C1834232 semapv:UnspecifiedMatching MONDO:0008079 neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome skos:exactMatch mesh:C563522 semapv:UnspecifiedMatching MONDO:0008080 neurofibromatosis, type III, mixed central and peripheral skos:exactMatch MEDGEN:419422 semapv:UnspecifiedMatching MONDO:0008080 neurofibromatosis, type III, mixed central and peripheral skos:exactMatch OMIM:162260 neurofibromatosis, type iii, mixed central and peripheral semapv:UnspecifiedMatching MONDO:0008080 neurofibromatosis, type III, mixed central and peripheral skos:exactMatch SCTID:254240003 semapv:UnspecifiedMatching MONDO:0008080 neurofibromatosis, type III, mixed central and peripheral skos:exactMatch UMLS:C2931480 semapv:UnspecifiedMatching MONDO:0008080 neurofibromatosis, type III, mixed central and peripheral skos:exactMatch mesh:C537389 semapv:UnspecifiedMatching MONDO:0008081 neurofibromatosis, type IV, of Riccardi skos:exactMatch MEDGEN:67393 semapv:UnspecifiedMatching MONDO:0008081 neurofibromatosis, type IV, of Riccardi skos:exactMatch OMIM:162270 neurofibromatosis, type iv, of riccardi semapv:UnspecifiedMatching MONDO:0008081 neurofibromatosis, type IV, of Riccardi skos:exactMatch UMLS:C0220695 semapv:UnspecifiedMatching MONDO:0008081 neurofibromatosis, type IV, of Riccardi skos:exactMatch mesh:C537392 semapv:UnspecifiedMatching MONDO:0008082 multiple endocrine neoplasia type 2B skos:exactMatch DOID:10016 multiple endocrine neoplasia type 2B semapv:UnspecifiedMatching MONDO:0008082 multiple endocrine neoplasia type 2B skos:exactMatch MEDGEN:9959 semapv:UnspecifiedMatching MONDO:0008082 multiple endocrine neoplasia type 2B skos:exactMatch NCIT:C3227 Multiple Endocrine Neoplasia Type 2B semapv:UnspecifiedMatching MONDO:0008082 multiple endocrine neoplasia type 2B skos:exactMatch OMIM:162300 multiple endocrine neoplasia, type 2b semapv:UnspecifiedMatching MONDO:0008082 multiple endocrine neoplasia type 2B skos:exactMatch Orphanet:247709 Multiple endocrine neoplasia type 2B semapv:UnspecifiedMatching MONDO:0008082 multiple endocrine neoplasia type 2B skos:exactMatch SCTID:61530001 semapv:UnspecifiedMatching MONDO:0008082 multiple endocrine neoplasia type 2B skos:exactMatch UMLS:C0025269 semapv:UnspecifiedMatching MONDO:0008082 multiple endocrine neoplasia type 2B skos:exactMatch icd11.foundation:1754393919 Multiple endocrine neoplasia type 2B semapv:UnspecifiedMatching MONDO:0008082 multiple endocrine neoplasia type 2B skos:exactMatch mesh:D018814 semapv:UnspecifiedMatching MONDO:0008083 ceroid lipofuscinosis, neuronal, 4 (Kufs type) skos:exactMatch DOID:0110720 neuronal ceroid lipofuscinosis 4 semapv:UnspecifiedMatching MONDO:0008083 ceroid lipofuscinosis, neuronal, 4 (Kufs type) skos:exactMatch MEDGEN:320287 semapv:UnspecifiedMatching MONDO:0008083 ceroid lipofuscinosis, neuronal, 4 (Kufs type) skos:exactMatch NCIT:C128116 Neuronal Ceroid Lipofuscinosis Type 4B semapv:UnspecifiedMatching MONDO:0008083 ceroid lipofuscinosis, neuronal, 4 (Kufs type) skos:exactMatch OMIM:162350 ceroid lipofuscinosis, neuronal, 4 (kufs type) semapv:UnspecifiedMatching MONDO:0008083 ceroid lipofuscinosis, neuronal, 4 (Kufs type) skos:exactMatch Orphanet:228343 CLN4 disease semapv:UnspecifiedMatching MONDO:0008083 ceroid lipofuscinosis, neuronal, 4 (Kufs type) skos:exactMatch UMLS:C1834207 semapv:UnspecifiedMatching MONDO:0008084 neuropathy, congenital, with arthrogryposis multiplex skos:exactMatch MEDGEN:320286 semapv:UnspecifiedMatching MONDO:0008084 neuropathy, congenital, with arthrogryposis multiplex skos:exactMatch OMIM:162370 neuropathy, congenital, with arthrogryposis multiplex semapv:UnspecifiedMatching MONDO:0008084 neuropathy, congenital, with arthrogryposis multiplex skos:exactMatch UMLS:C1834206 semapv:UnspecifiedMatching MONDO:0008084 neuropathy, congenital, with arthrogryposis multiplex skos:exactMatch mesh:C535714 semapv:UnspecifiedMatching MONDO:0008085 obsolete neuropathy, hereditary sensorimotor, with upper motor neuron, visual pathway and autonomic disturbance skos:exactMatch OMIM:162380 neuropathy, hereditary sensorimotor, with upper motor neuron, visual pathway and autonomic disturbance semapv:UnspecifiedMatching MONDO:0008085 obsolete neuropathy, hereditary sensorimotor, with upper motor neuron, visual pathway and autonomic disturbance skos:exactMatch mesh:C563517 semapv:UnspecifiedMatching MONDO:0008086 neuropathy, hereditary sensory and autonomic, type 1A skos:exactMatch DOID:0070152 hereditary sensory and autonomic neuropathy type 1A semapv:UnspecifiedMatching MONDO:0008086 neuropathy, hereditary sensory and autonomic, type 1A skos:exactMatch MEDGEN:1716450 semapv:UnspecifiedMatching MONDO:0008086 neuropathy, hereditary sensory and autonomic, type 1A skos:exactMatch OMIM:162400 neuropathy, hereditary sensory and autonomic, type 1a semapv:UnspecifiedMatching MONDO:0008086 neuropathy, hereditary sensory and autonomic, type 1A skos:exactMatch UMLS:C5235211 semapv:UnspecifiedMatching MONDO:0008087 hereditary neuropathy with liability to pressure palsies skos:exactMatch DOID:0060843 hereditary neuropathy with liability to pressure palsies semapv:UnspecifiedMatching MONDO:0008087 hereditary neuropathy with liability to pressure palsies skos:exactMatch MEDGEN:98291 semapv:UnspecifiedMatching MONDO:0008087 hereditary neuropathy with liability to pressure palsies skos:exactMatch OMIM:162500 neuropathy, hereditary, with liability to pressure palsies semapv:UnspecifiedMatching MONDO:0008087 hereditary neuropathy with liability to pressure palsies skos:exactMatch Orphanet:640 Hereditary neuropathy with liability to pressure palsies semapv:UnspecifiedMatching MONDO:0008087 hereditary neuropathy with liability to pressure palsies skos:exactMatch SCTID:230558006 semapv:UnspecifiedMatching MONDO:0008087 hereditary neuropathy with liability to pressure palsies skos:exactMatch UMLS:C0393814 semapv:UnspecifiedMatching MONDO:0008087 hereditary neuropathy with liability to pressure palsies skos:exactMatch icd11.foundation:2126843932 Hereditary neuropathy with liability to pressure palsies semapv:UnspecifiedMatching MONDO:0008087 hereditary neuropathy with liability to pressure palsies skos:exactMatch mesh:C536965 semapv:UnspecifiedMatching MONDO:0008088 neuropathy, with paraprotein in serum, cerebrospinal fluid and urine skos:exactMatch MEDGEN:371758 semapv:UnspecifiedMatching MONDO:0008088 neuropathy, with paraprotein in serum, cerebrospinal fluid and urine skos:exactMatch OMIM:162600 neuropathy, with paraprotein 1n serum, cerebrospinal fluid and urine semapv:UnspecifiedMatching MONDO:0008088 neuropathy, with paraprotein in serum, cerebrospinal fluid and urine skos:exactMatch UMLS:C1834180 semapv:UnspecifiedMatching MONDO:0008088 neuropathy, with paraprotein in serum, cerebrospinal fluid and urine skos:exactMatch mesh:C563516 semapv:UnspecifiedMatching MONDO:0008089 neutropenia, chronic familial skos:exactMatch MEDGEN:777137 semapv:UnspecifiedMatching MONDO:0008089 neutropenia, chronic familial skos:exactMatch OMIM:162700 neutropenia, chronic familial semapv:UnspecifiedMatching MONDO:0008089 neutropenia, chronic familial skos:exactMatch SCTID:234576008 semapv:UnspecifiedMatching MONDO:0008089 neutropenia, chronic familial skos:exactMatch UMLS:C3665676 semapv:UnspecifiedMatching MONDO:0008089 neutropenia, chronic familial skos:exactMatch mesh:C535815 semapv:UnspecifiedMatching MONDO:0008090 cyclic hematopoiesis skos:exactMatch DOID:5339 cyclic hematopoiesis semapv:UnspecifiedMatching MONDO:0008090 cyclic hematopoiesis skos:exactMatch ICD10CM:D70.4 Cyclic neutropenia semapv:UnspecifiedMatching MONDO:0008090 cyclic hematopoiesis skos:exactMatch MEDGEN:65121 semapv:UnspecifiedMatching MONDO:0008090 cyclic hematopoiesis skos:exactMatch NCIT:C3820 Cyclic Neutropenia semapv:UnspecifiedMatching MONDO:0008090 cyclic hematopoiesis skos:exactMatch OMIM:162800 cyclic neutropenia semapv:UnspecifiedMatching MONDO:0008090 cyclic hematopoiesis skos:exactMatch Orphanet:2686 Cyclic neutropenia semapv:UnspecifiedMatching MONDO:0008090 cyclic hematopoiesis skos:exactMatch SCTID:191347008 semapv:UnspecifiedMatching MONDO:0008090 cyclic hematopoiesis skos:exactMatch UMLS:C0221023 semapv:UnspecifiedMatching MONDO:0008090 cyclic hematopoiesis skos:exactMatch mesh:C536227 semapv:UnspecifiedMatching MONDO:0008091 obsolete abnormal neutrophil chemotactic response skos:exactMatch OMIM:162820 semapv:UnspecifiedMatching MONDO:0008092 hereditary neutrophilia skos:exactMatch DOID:0090120 hereditary neutrophilia semapv:UnspecifiedMatching MONDO:0008092 hereditary neutrophilia skos:exactMatch MEDGEN:154252 semapv:UnspecifiedMatching MONDO:0008092 hereditary neutrophilia skos:exactMatch OMIM:162830 neutrophilia, hereditary semapv:UnspecifiedMatching MONDO:0008092 hereditary neutrophilia skos:exactMatch Orphanet:279943 Hereditary neutrophilia semapv:UnspecifiedMatching MONDO:0008092 hereditary neutrophilia skos:exactMatch SCTID:129639005 semapv:UnspecifiedMatching MONDO:0008092 hereditary neutrophilia skos:exactMatch UMLS:C0543669 semapv:UnspecifiedMatching MONDO:0008092 hereditary neutrophilia skos:exactMatch mesh:C563010 semapv:UnspecifiedMatching MONDO:0008093 nevus, epidermal skos:exactMatch DOID:0111162 epidermal nevus semapv:UnspecifiedMatching MONDO:0008093 nevus, epidermal skos:exactMatch MEDGEN:83106 semapv:UnspecifiedMatching MONDO:0008093 nevus, epidermal skos:exactMatch NCIT:C4088 Epidermal Nevus semapv:UnspecifiedMatching MONDO:0008093 nevus, epidermal skos:exactMatch OMIM:162900 nevus, epidermal semapv:UnspecifiedMatching MONDO:0008093 nevus, epidermal skos:exactMatch UMLS:C0334082 semapv:UnspecifiedMatching MONDO:0008093 nevus, epidermal skos:exactMatch mesh:C580062 semapv:UnspecifiedMatching MONDO:0008094 familial multiple nevi flammei skos:exactMatch DOID:0111529 familial multiple nevi flammei semapv:UnspecifiedMatching MONDO:0008094 familial multiple nevi flammei skos:exactMatch MEDGEN:419699 semapv:UnspecifiedMatching MONDO:0008094 familial multiple nevi flammei skos:exactMatch NCIT:C3840 Port Wine Stain semapv:UnspecifiedMatching MONDO:0008094 familial multiple nevi flammei skos:exactMatch OMIM:163000 capillary malformations, congenital semapv:UnspecifiedMatching MONDO:0008094 familial multiple nevi flammei skos:exactMatch Orphanet:624 Familial multiple nevi flammei semapv:UnspecifiedMatching MONDO:0008094 familial multiple nevi flammei skos:exactMatch SCTID:416377005 semapv:UnspecifiedMatching MONDO:0008094 familial multiple nevi flammei skos:exactMatch UMLS:C2931029 semapv:UnspecifiedMatching MONDO:0008095 nevus anemicus skos:exactMatch MEDGEN:82725 semapv:UnspecifiedMatching MONDO:0008095 nevus anemicus skos:exactMatch NCIT:C3943 Nevus Anemicus semapv:UnspecifiedMatching MONDO:0008095 nevus anemicus skos:exactMatch OMIM:163050 nevus anemicus semapv:UnspecifiedMatching MONDO:0008095 nevus anemicus skos:exactMatch SCTID:40929003 semapv:UnspecifiedMatching MONDO:0008095 nevus anemicus skos:exactMatch UMLS:C0265982 semapv:UnspecifiedMatching MONDO:0008096 nevus flammeus of nape of neck skos:exactMatch MEDGEN:437278 semapv:UnspecifiedMatching MONDO:0008096 nevus flammeus of nape of neck skos:exactMatch OMIM:163100 nevus flammeus of nape of neck semapv:UnspecifiedMatching MONDO:0008096 nevus flammeus of nape of neck skos:exactMatch UMLS:C2697447 semapv:UnspecifiedMatching MONDO:0008096 nevus flammeus of nape of neck skos:exactMatch mesh:C567524 semapv:UnspecifiedMatching MONDO:0008097 linear nevus sebaceous syndrome skos:exactMatch DOID:0111530 linear nevus sebaceous syndrome semapv:UnspecifiedMatching MONDO:0008097 linear nevus sebaceous syndrome skos:exactMatch MEDGEN:1646345 semapv:UnspecifiedMatching MONDO:0008097 linear nevus sebaceous syndrome skos:exactMatch NCIT:C4678 Organoid Nevus semapv:UnspecifiedMatching MONDO:0008097 linear nevus sebaceous syndrome skos:exactMatch OMIM:163200 schimmelpenning-feuerstein-mims syndrome semapv:UnspecifiedMatching MONDO:0008097 linear nevus sebaceous syndrome skos:exactMatch Orphanet:2612 Linear nevus sebaceus syndrome semapv:UnspecifiedMatching MONDO:0008097 linear nevus sebaceous syndrome skos:exactMatch UMLS:C4552097 semapv:UnspecifiedMatching MONDO:0008098 mesomelic dwarfism, Nievergelt type skos:exactMatch MEDGEN:98478 semapv:UnspecifiedMatching MONDO:0008098 mesomelic dwarfism, Nievergelt type skos:exactMatch OMIM:163400 nievergelt syndrome semapv:UnspecifiedMatching MONDO:0008098 mesomelic dwarfism, Nievergelt type skos:exactMatch Orphanet:2633 Mesomelic dysplasia, Nievergelt type semapv:UnspecifiedMatching MONDO:0008098 mesomelic dwarfism, Nievergelt type skos:exactMatch SCTID:33979003 semapv:UnspecifiedMatching MONDO:0008098 mesomelic dwarfism, Nievergelt type skos:exactMatch UMLS:C0432231 semapv:UnspecifiedMatching MONDO:0008098 mesomelic dwarfism, Nievergelt type skos:exactMatch icd11.foundation:2034257092 Mesomelic dwarfism, Nievergelt type semapv:UnspecifiedMatching MONDO:0008098 mesomelic dwarfism, Nievergelt type skos:exactMatch mesh:C536120 semapv:UnspecifiedMatching MONDO:0008099 congenital stationary night blindness autosomal dominant 2 skos:exactMatch DOID:0110863 congenital stationary night blindness autosomal dominant 2 semapv:UnspecifiedMatching MONDO:0008099 congenital stationary night blindness autosomal dominant 2 skos:exactMatch MEDGEN:361814 semapv:UnspecifiedMatching MONDO:0008099 congenital stationary night blindness autosomal dominant 2 skos:exactMatch OMIM:163500 night blindness, congenital stationary, autosomal dominant 2 semapv:UnspecifiedMatching MONDO:0008099 congenital stationary night blindness autosomal dominant 2 skos:exactMatch UMLS:C1876182 semapv:UnspecifiedMatching MONDO:0008099 congenital stationary night blindness autosomal dominant 2 skos:exactMatch mesh:C566869 semapv:UnspecifiedMatching MONDO:0008100 nipples inverted skos:exactMatch MEDGEN:82844 semapv:UnspecifiedMatching MONDO:0008100 nipples inverted skos:exactMatch OMIM:163600 nipples inverted semapv:UnspecifiedMatching MONDO:0008100 nipples inverted skos:exactMatch UMLS:C0269269 semapv:UnspecifiedMatching MONDO:0008101 familial supernumerary nipples skos:exactMatch MEDGEN:120564 semapv:UnspecifiedMatching MONDO:0008101 familial supernumerary nipples skos:exactMatch OMIM:163700 nipples, supernumerary semapv:UnspecifiedMatching MONDO:0008101 familial supernumerary nipples skos:exactMatch Orphanet:2456 Familial supernumerary nipples semapv:UnspecifiedMatching MONDO:0008101 familial supernumerary nipples skos:exactMatch UMLS:C0266011 semapv:UnspecifiedMatching MONDO:0008102 sick sinus syndrome 2, autosomal dominant skos:exactMatch MEDGEN:320273 semapv:UnspecifiedMatching MONDO:0008102 sick sinus syndrome 2, autosomal dominant skos:exactMatch OMIM:163800 sick sinus syndrome 2 semapv:UnspecifiedMatching MONDO:0008102 sick sinus syndrome 2, autosomal dominant skos:exactMatch UMLS:C1834144 semapv:UnspecifiedMatching MONDO:0008102 sick sinus syndrome 2, autosomal dominant skos:exactMatch mesh:C563513 semapv:UnspecifiedMatching MONDO:0008103 noduli Cutanei, multiple, with urinary tract abnormalities skos:exactMatch MEDGEN:371746 semapv:UnspecifiedMatching MONDO:0008103 noduli Cutanei, multiple, with urinary tract abnormalities skos:exactMatch OMIM:163850 noduli cutanei, multiple, with urinary tract abnormalities semapv:UnspecifiedMatching MONDO:0008103 noduli Cutanei, multiple, with urinary tract abnormalities skos:exactMatch UMLS:C1834143 semapv:UnspecifiedMatching MONDO:0008103 noduli Cutanei, multiple, with urinary tract abnormalities skos:exactMatch mesh:C563512 semapv:UnspecifiedMatching MONDO:0008104 Noonan syndrome 1 skos:exactMatch DOID:0060578 Noonan syndrome 1 semapv:UnspecifiedMatching MONDO:0008104 Noonan syndrome 1 skos:exactMatch MEDGEN:1638960 semapv:UnspecifiedMatching MONDO:0008104 Noonan syndrome 1 skos:exactMatch NCIT:C75459 Noonan Syndrome 1 semapv:UnspecifiedMatching MONDO:0008104 Noonan syndrome 1 skos:exactMatch OMIM:163950 noonan syndrome 1 semapv:UnspecifiedMatching MONDO:0008104 Noonan syndrome 1 skos:exactMatch UMLS:C4551602 semapv:UnspecifiedMatching MONDO:0008105 nose, anomalous shape of skos:exactMatch MEDGEN:331668 semapv:UnspecifiedMatching MONDO:0008105 nose, anomalous shape of skos:exactMatch OMIM:164000 nose, anomalous shape of semapv:UnspecifiedMatching MONDO:0008105 nose, anomalous shape of skos:exactMatch UMLS:C1834118 semapv:UnspecifiedMatching MONDO:0008105 nose, anomalous shape of skos:exactMatch mesh:C538354 semapv:UnspecifiedMatching MONDO:0008106 nystagmus 2, congenital, autosomal dominant skos:exactMatch DOID:0111792 congenital nystagmus 2 semapv:UnspecifiedMatching MONDO:0008106 nystagmus 2, congenital, autosomal dominant skos:exactMatch MEDGEN:331657 semapv:UnspecifiedMatching MONDO:0008106 nystagmus 2, congenital, autosomal dominant skos:exactMatch OMIM:164100 nystagmus 2, congenital, autosomal dominant semapv:UnspecifiedMatching MONDO:0008106 nystagmus 2, congenital, autosomal dominant skos:exactMatch UMLS:C1834079 semapv:UnspecifiedMatching MONDO:0008106 nystagmus 2, congenital, autosomal dominant skos:exactMatch mesh:C537854 semapv:UnspecifiedMatching MONDO:0008107 nystagmus, hereditary vertical skos:exactMatch MEDGEN:322336 semapv:UnspecifiedMatching MONDO:0008107 nystagmus, hereditary vertical skos:exactMatch OMIM:164150 nystagmus, hereditary vertical semapv:UnspecifiedMatching MONDO:0008107 nystagmus, hereditary vertical skos:exactMatch UMLS:C1834078 semapv:UnspecifiedMatching MONDO:0008107 nystagmus, hereditary vertical skos:exactMatch mesh:C537857 semapv:UnspecifiedMatching MONDO:0008108 oculocerebrocutaneous syndrome skos:exactMatch MEDGEN:163214 semapv:UnspecifiedMatching MONDO:0008108 oculocerebrocutaneous syndrome skos:exactMatch OMIM:164180 oculocerebrocutaneous syndrome semapv:UnspecifiedMatching MONDO:0008108 oculocerebrocutaneous syndrome skos:exactMatch Orphanet:1647 Oculocerebrocutaneous syndrome semapv:UnspecifiedMatching MONDO:0008108 oculocerebrocutaneous syndrome skos:exactMatch SCTID:403554008 semapv:UnspecifiedMatching MONDO:0008108 oculocerebrocutaneous syndrome skos:exactMatch UMLS:C0796092 semapv:UnspecifiedMatching MONDO:0008108 oculocerebrocutaneous syndrome skos:exactMatch mesh:C538088 semapv:UnspecifiedMatching MONDO:0008109 ocular cicatricial pemphigoid skos:broadMatch SCTID:34250006 semapv:UnspecifiedMatching MONDO:0008109 ocular cicatricial pemphigoid skos:exactMatch EFO:0008610 semapv:UnspecifiedMatching MONDO:0008109 ocular cicatricial pemphigoid skos:exactMatch MEDGEN:266181 semapv:UnspecifiedMatching MONDO:0008109 ocular cicatricial pemphigoid skos:exactMatch NCIT:C84939 Ocular Cicatricial Pemphigoid semapv:UnspecifiedMatching MONDO:0008109 ocular cicatricial pemphigoid skos:exactMatch OMIM:164185 ocular cicatricial pemphigoid semapv:UnspecifiedMatching MONDO:0008109 ocular cicatricial pemphigoid skos:exactMatch Orphanet:99922 Ocular cicatricial pemphigoid semapv:UnspecifiedMatching MONDO:0008109 ocular cicatricial pemphigoid skos:exactMatch SCTID:314757003 semapv:UnspecifiedMatching MONDO:0008109 ocular cicatricial pemphigoid skos:exactMatch UMLS:C1282359 semapv:UnspecifiedMatching MONDO:0008109 ocular cicatricial pemphigoid skos:exactMatch icd11.foundation:953963439 Mucous membrane pemphigoid with ocular involvement semapv:UnspecifiedMatching MONDO:0008110 obsolete ocular dominance skos:exactMatch OMIM:164190 ocular dominance semapv:UnspecifiedMatching MONDO:0008111 oculodentodigital dysplasia skos:exactMatch DOID:0060291 oculodentodigital dysplasia semapv:UnspecifiedMatching MONDO:0008111 oculodentodigital dysplasia skos:exactMatch MEDGEN:167236 semapv:UnspecifiedMatching MONDO:0008111 oculodentodigital dysplasia skos:exactMatch OMIM:164200 oculodentodigital dysplasia semapv:UnspecifiedMatching MONDO:0008111 oculodentodigital dysplasia skos:exactMatch Orphanet:2710 Oculodentodigital dysplasia semapv:UnspecifiedMatching MONDO:0008111 oculodentodigital dysplasia skos:exactMatch SCTID:38215007 semapv:UnspecifiedMatching MONDO:0008111 oculodentodigital dysplasia skos:exactMatch UMLS:C0812437 semapv:UnspecifiedMatching MONDO:0008111 oculodentodigital dysplasia skos:exactMatch mesh:C563160 semapv:UnspecifiedMatching MONDO:0008113 Schilbach-Rott syndrome skos:exactMatch MEDGEN:371716 semapv:UnspecifiedMatching MONDO:0008113 Schilbach-Rott syndrome skos:exactMatch OMIM:164220 schilbach-rott syndrome semapv:UnspecifiedMatching MONDO:0008113 Schilbach-Rott syndrome skos:exactMatch Orphanet:2353 Schilbach-Rott syndrome semapv:UnspecifiedMatching MONDO:0008113 Schilbach-Rott syndrome skos:exactMatch SCTID:721902002 semapv:UnspecifiedMatching MONDO:0008113 Schilbach-Rott syndrome skos:exactMatch UMLS:C1834038 semapv:UnspecifiedMatching MONDO:0008113 Schilbach-Rott syndrome skos:exactMatch mesh:C563509 semapv:UnspecifiedMatching MONDO:0008114 obsessive-compulsive disorder skos:exactMatch DOID:10933 obsessive-compulsive disorder semapv:UnspecifiedMatching MONDO:0008114 obsessive-compulsive disorder skos:exactMatch EFO:0004242 semapv:UnspecifiedMatching MONDO:0008114 obsessive-compulsive disorder skos:exactMatch ICD10CM:F42 Obsessive-compulsive disorder semapv:UnspecifiedMatching MONDO:0008114 obsessive-compulsive disorder skos:exactMatch ICD10WHO:F42 Obsessive-compulsive disorder semapv:UnspecifiedMatching MONDO:0008114 obsessive-compulsive disorder skos:exactMatch MEDGEN:14445 semapv:UnspecifiedMatching MONDO:0008114 obsessive-compulsive disorder skos:exactMatch NCIT:C88411 Obsessive Compulsive Disorder semapv:UnspecifiedMatching MONDO:0008114 obsessive-compulsive disorder skos:exactMatch OMIM:164230 obsessive-compulsive disorder semapv:UnspecifiedMatching MONDO:0008114 obsessive-compulsive disorder skos:exactMatch SCTID:191736004 semapv:UnspecifiedMatching MONDO:0008114 obsessive-compulsive disorder skos:exactMatch UMLS:C0028768 semapv:UnspecifiedMatching MONDO:0008114 obsessive-compulsive disorder skos:exactMatch icd11.foundation:1582741816 Obsessive-compulsive disorder semapv:UnspecifiedMatching MONDO:0008114 obsessive-compulsive disorder skos:exactMatch mesh:D009771 semapv:UnspecifiedMatching MONDO:0008115 Feingold syndrome type 1 skos:exactMatch MEDGEN:1637716 semapv:UnspecifiedMatching MONDO:0008115 Feingold syndrome type 1 skos:exactMatch OMIM:164280 feingold syndrome 1 semapv:UnspecifiedMatching MONDO:0008115 Feingold syndrome type 1 skos:exactMatch Orphanet:391641 Feingold syndrome type 1 semapv:UnspecifiedMatching MONDO:0008115 Feingold syndrome type 1 skos:exactMatch SCTID:702431004 semapv:UnspecifiedMatching MONDO:0008115 Feingold syndrome type 1 skos:exactMatch UMLS:C4551774 semapv:UnspecifiedMatching MONDO:0008116 oculopharyngeal muscular dystrophy skos:exactMatch DOID:11719 oculopharyngeal muscular dystrophy semapv:UnspecifiedMatching MONDO:0008116 oculopharyngeal muscular dystrophy skos:exactMatch MEDGEN:75730 semapv:UnspecifiedMatching MONDO:0008116 oculopharyngeal muscular dystrophy skos:exactMatch OMIMPS:164300 Oculopharyngeal muscular dystrophy semapv:UnspecifiedMatching MONDO:0008116 oculopharyngeal muscular dystrophy skos:exactMatch Orphanet:270 Oculopharyngeal muscular dystrophy semapv:UnspecifiedMatching MONDO:0008116 oculopharyngeal muscular dystrophy skos:exactMatch SCTID:77097004 semapv:UnspecifiedMatching MONDO:0008116 oculopharyngeal muscular dystrophy skos:exactMatch UMLS:C0270952 semapv:UnspecifiedMatching MONDO:0008116 oculopharyngeal muscular dystrophy skos:exactMatch icd11.foundation:1354386293 Oculopharyngeal muscular dystrophy semapv:UnspecifiedMatching MONDO:0008116 oculopharyngeal muscular dystrophy skos:exactMatch mesh:D039141 semapv:UnspecifiedMatching MONDO:0008118 odontomatosis-aortae esophagus stenosis syndrome skos:exactMatch MEDGEN:320249 semapv:UnspecifiedMatching MONDO:0008118 odontomatosis-aortae esophagus stenosis syndrome skos:exactMatch OMIM:164330 odontoma-dysphagia syndrome semapv:UnspecifiedMatching MONDO:0008118 odontomatosis-aortae esophagus stenosis syndrome skos:exactMatch Orphanet:2724 Odontomatosis-aortae esophagus stenosis syndrome semapv:UnspecifiedMatching MONDO:0008118 odontomatosis-aortae esophagus stenosis syndrome skos:exactMatch SCTID:716180009 semapv:UnspecifiedMatching MONDO:0008118 odontomatosis-aortae esophagus stenosis syndrome skos:exactMatch UMLS:C1834013 semapv:UnspecifiedMatching MONDO:0008118 odontomatosis-aortae esophagus stenosis syndrome skos:exactMatch mesh:C537740 semapv:UnspecifiedMatching MONDO:0008119 spinocerebellar ataxia type 1 skos:exactMatch DOID:0050954 spinocerebellar ataxia 1 semapv:UnspecifiedMatching MONDO:0008119 spinocerebellar ataxia type 1 skos:exactMatch MEDGEN:155703 semapv:UnspecifiedMatching MONDO:0008119 spinocerebellar ataxia type 1 skos:exactMatch NCIT:C129982 Spinocerebellar Ataxia Type 1 semapv:UnspecifiedMatching MONDO:0008119 spinocerebellar ataxia type 1 skos:exactMatch OMIM:164400 spinocerebellar ataxia 1 semapv:UnspecifiedMatching MONDO:0008119 spinocerebellar ataxia type 1 skos:exactMatch Orphanet:98755 Spinocerebellar ataxia type 1 semapv:UnspecifiedMatching MONDO:0008119 spinocerebellar ataxia type 1 skos:exactMatch SCTID:715748006 semapv:UnspecifiedMatching MONDO:0008119 spinocerebellar ataxia type 1 skos:exactMatch UMLS:C0752120 semapv:UnspecifiedMatching MONDO:0008119 spinocerebellar ataxia type 1 skos:exactMatch icd11.foundation:2071487961 Spinocerebellar ataxia type 1 semapv:UnspecifiedMatching MONDO:0008121 onychogryposis, pedal, with keratosis plantaris and coarse hair skos:exactMatch MEDGEN:331637 semapv:UnspecifiedMatching MONDO:0008121 onychogryposis, pedal, with keratosis plantaris and coarse hair skos:exactMatch OMIM:164680 onychogryposis, pedal, with keratosis plantaris and coarse hair semapv:UnspecifiedMatching MONDO:0008121 onychogryposis, pedal, with keratosis plantaris and coarse hair skos:exactMatch UMLS:C1833997 semapv:UnspecifiedMatching MONDO:0008121 onychogryposis, pedal, with keratosis plantaris and coarse hair skos:exactMatch mesh:C563506 semapv:UnspecifiedMatching MONDO:0008123 autosomal dominant omodysplasia skos:exactMatch DOID:0080845 omodysplasia 2 semapv:UnspecifiedMatching MONDO:0008123 autosomal dominant omodysplasia skos:exactMatch MEDGEN:413823 semapv:UnspecifiedMatching MONDO:0008123 autosomal dominant omodysplasia skos:exactMatch OMIM:164745 omodysplasia 2 semapv:UnspecifiedMatching MONDO:0008123 autosomal dominant omodysplasia skos:exactMatch Orphanet:93328 Autosomal dominant omodysplasia semapv:UnspecifiedMatching MONDO:0008123 autosomal dominant omodysplasia skos:exactMatch SCTID:725165009 semapv:UnspecifiedMatching MONDO:0008123 autosomal dominant omodysplasia skos:exactMatch UMLS:C2750355 semapv:UnspecifiedMatching MONDO:0008123 autosomal dominant omodysplasia skos:exactMatch icd11.foundation:1237796148 Autosomal dominant omodysplasia semapv:UnspecifiedMatching MONDO:0008123 autosomal dominant omodysplasia skos:exactMatch mesh:C567664 semapv:UnspecifiedMatching MONDO:0008124 omphalocele, autosomal skos:exactMatch MEDGEN:478865 semapv:UnspecifiedMatching MONDO:0008124 omphalocele, autosomal skos:exactMatch OMIM:164750 omphalocele, autosomal semapv:UnspecifiedMatching MONDO:0008124 omphalocele, autosomal skos:exactMatch UMLS:C3277235 semapv:UnspecifiedMatching MONDO:0008125 nonsyndromic congenital nail disorder 5 skos:exactMatch DOID:0080083 nonsyndromic congenital nail disorder 5 semapv:UnspecifiedMatching MONDO:0008125 nonsyndromic congenital nail disorder 5 skos:exactMatch MEDGEN:318994 semapv:UnspecifiedMatching MONDO:0008125 nonsyndromic congenital nail disorder 5 skos:exactMatch OMIM:164800 nail disorder, nonsyndromic congenital, 5 semapv:UnspecifiedMatching MONDO:0008125 nonsyndromic congenital nail disorder 5 skos:exactMatch UMLS:C1833909 semapv:UnspecifiedMatching MONDO:0008125 nonsyndromic congenital nail disorder 5 skos:exactMatch mesh:C563503 semapv:UnspecifiedMatching MONDO:0008126 obsolete oncogene Yuasa skos:exactMatch OMIM:164891 semapv:UnspecifiedMatching MONDO:0008127 ophthalmomandibulomelic dysplasia skos:exactMatch MEDGEN:331604 semapv:UnspecifiedMatching MONDO:0008127 ophthalmomandibulomelic dysplasia skos:exactMatch OMIM:164900 ophthalmomandibulomelic dysplasia semapv:UnspecifiedMatching MONDO:0008127 ophthalmomandibulomelic dysplasia skos:exactMatch Orphanet:2741 Ophthalmomandibulomelic dysplasia semapv:UnspecifiedMatching MONDO:0008127 ophthalmomandibulomelic dysplasia skos:exactMatch SCTID:715484003 semapv:UnspecifiedMatching MONDO:0008127 ophthalmomandibulomelic dysplasia skos:exactMatch UMLS:C1833872 semapv:UnspecifiedMatching MONDO:0008127 ophthalmomandibulomelic dysplasia skos:exactMatch icd11.foundation:869046719 Ophthalmomandibulomelic dysplasia semapv:UnspecifiedMatching MONDO:0008127 ophthalmomandibulomelic dysplasia skos:exactMatch mesh:C563501 semapv:UnspecifiedMatching MONDO:0008128 ophthalmoplegia, familial static skos:exactMatch MEDGEN:371666 semapv:UnspecifiedMatching MONDO:0008128 ophthalmoplegia, familial static skos:exactMatch OMIM:165000 ophthalmoplegia, familial static semapv:UnspecifiedMatching MONDO:0008128 ophthalmoplegia, familial static skos:exactMatch UMLS:C1833839 semapv:UnspecifiedMatching MONDO:0008128 ophthalmoplegia, familial static skos:exactMatch mesh:C563500 semapv:UnspecifiedMatching MONDO:0008129 ophthalmoplegia, familial total, with iris transillumination skos:exactMatch MEDGEN:371665 semapv:UnspecifiedMatching MONDO:0008129 ophthalmoplegia, familial total, with iris transillumination skos:exactMatch OMIM:165098 ophthalmoplegia, familial total, with iris transillumination semapv:UnspecifiedMatching MONDO:0008129 ophthalmoplegia, familial total, with iris transillumination skos:exactMatch UMLS:C1833836 semapv:UnspecifiedMatching MONDO:0008129 ophthalmoplegia, familial total, with iris transillumination skos:exactMatch mesh:C563499 semapv:UnspecifiedMatching MONDO:0008130 ophthalmoplegia-intellectual disability-lingua scrotalis syndrome skos:exactMatch MEDGEN:318972 semapv:UnspecifiedMatching MONDO:0008130 ophthalmoplegia-intellectual disability-lingua scrotalis syndrome skos:exactMatch OMIM:165150 ophthalmoplegia, progressive, with scrotal tongue and mental deficiency semapv:UnspecifiedMatching MONDO:0008130 ophthalmoplegia-intellectual disability-lingua scrotalis syndrome skos:exactMatch Orphanet:2743 Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome semapv:UnspecifiedMatching MONDO:0008130 ophthalmoplegia-intellectual disability-lingua scrotalis syndrome skos:exactMatch UMLS:C1833835 semapv:UnspecifiedMatching MONDO:0008130 ophthalmoplegia-intellectual disability-lingua scrotalis syndrome skos:exactMatch mesh:C563498 semapv:UnspecifiedMatching MONDO:0008131 optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant skos:exactMatch MEDGEN:331597 semapv:UnspecifiedMatching MONDO:0008131 optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant skos:exactMatch OMIM:165199 optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant semapv:UnspecifiedMatching MONDO:0008131 optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant skos:exactMatch UMLS:C1833831 semapv:UnspecifiedMatching MONDO:0008131 optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant skos:exactMatch mesh:C563497 semapv:UnspecifiedMatching MONDO:0008132 optic atrophy with demyelinating disease of CNS skos:exactMatch DOID:0111756 Leber hereditary optic neuropathy with demyelinating disease of CNS semapv:UnspecifiedMatching MONDO:0008132 optic atrophy with demyelinating disease of CNS skos:exactMatch MEDGEN:322290 semapv:UnspecifiedMatching MONDO:0008132 optic atrophy with demyelinating disease of CNS skos:exactMatch OMIM:165200 optic atrophy with demyelinating disease of cns semapv:UnspecifiedMatching MONDO:0008132 optic atrophy with demyelinating disease of CNS skos:exactMatch UMLS:C1833830 semapv:UnspecifiedMatching MONDO:0008132 optic atrophy with demyelinating disease of CNS skos:exactMatch mesh:C563496 semapv:UnspecifiedMatching MONDO:0008133 optic atrophy 3 skos:exactMatch DOID:0111433 optic atrophy 3 semapv:UnspecifiedMatching MONDO:0008133 optic atrophy 3 skos:exactMatch MEDGEN:371657 semapv:UnspecifiedMatching MONDO:0008133 optic atrophy 3 skos:exactMatch OMIM:165300 optic atrophy 3, autosomal dominant semapv:UnspecifiedMatching MONDO:0008133 optic atrophy 3 skos:exactMatch Orphanet:67036 Autosomal dominant optic atrophy and cataract semapv:UnspecifiedMatching MONDO:0008133 optic atrophy 3 skos:exactMatch SCTID:719517009 semapv:UnspecifiedMatching MONDO:0008133 optic atrophy 3 skos:exactMatch UMLS:C1833809 semapv:UnspecifiedMatching MONDO:0008133 optic atrophy 3 skos:exactMatch mesh:C537128 semapv:UnspecifiedMatching MONDO:0008134 autosomal dominant optic atrophy, classic form skos:exactMatch DOID:0111441 optic atrophy 1 semapv:UnspecifiedMatching MONDO:0008134 autosomal dominant optic atrophy, classic form skos:exactMatch MEDGEN:137902 semapv:UnspecifiedMatching MONDO:0008134 autosomal dominant optic atrophy, classic form skos:exactMatch OMIM:165500 optic atrophy 1 semapv:UnspecifiedMatching MONDO:0008134 autosomal dominant optic atrophy, classic form skos:exactMatch Orphanet:98673 Autosomal dominant optic atrophy, classic form semapv:UnspecifiedMatching MONDO:0008134 autosomal dominant optic atrophy, classic form skos:exactMatch SCTID:717336005 semapv:UnspecifiedMatching MONDO:0008134 autosomal dominant optic atrophy, classic form skos:exactMatch UMLS:C0338508 semapv:UnspecifiedMatching MONDO:0008135 optic atrophy 13 with retinal and foveal abnormalities skos:exactMatch MEDGEN:1768962 semapv:UnspecifiedMatching MONDO:0008135 optic atrophy 13 with retinal and foveal abnormalities skos:exactMatch OMIM:165510 optic atrophy 13 with retinal and foveal abnormalities semapv:UnspecifiedMatching MONDO:0008135 optic atrophy 13 with retinal and foveal abnormalities skos:exactMatch UMLS:C5435585 semapv:UnspecifiedMatching MONDO:0008135 optic atrophy 13 with retinal and foveal abnormalities skos:exactMatch mesh:C563494 semapv:UnspecifiedMatching MONDO:0008136 isolated optic nerve hypoplasia skos:exactMatch DOID:0111531 bilateral optic nerve hypoplasia semapv:UnspecifiedMatching MONDO:0008136 isolated optic nerve hypoplasia skos:exactMatch MEDGEN:322281 semapv:UnspecifiedMatching MONDO:0008136 isolated optic nerve hypoplasia skos:exactMatch OMIM:165550 optic nerve hypoplasia, bilateral semapv:UnspecifiedMatching MONDO:0008136 isolated optic nerve hypoplasia skos:exactMatch Orphanet:637061 Isolated optic nerve hypoplasia semapv:UnspecifiedMatching MONDO:0008136 isolated optic nerve hypoplasia skos:exactMatch SCTID:724999003 semapv:UnspecifiedMatching MONDO:0008136 isolated optic nerve hypoplasia skos:exactMatch UMLS:C1833797 semapv:UnspecifiedMatching MONDO:0008136 isolated optic nerve hypoplasia skos:exactMatch icd11.foundation:609162974 Isolated optic nerve hypoplasia semapv:UnspecifiedMatching MONDO:0008137 orofaciodigital syndrome X skos:exactMatch DOID:0060380 orofaciodigital syndrome X semapv:UnspecifiedMatching MONDO:0008137 orofaciodigital syndrome X skos:exactMatch MEDGEN:322280 semapv:UnspecifiedMatching MONDO:0008137 orofaciodigital syndrome X skos:exactMatch OMIM:165590 orofaciodigital syndrome 10 semapv:UnspecifiedMatching MONDO:0008137 orofaciodigital syndrome X skos:exactMatch SCTID:722075004 semapv:UnspecifiedMatching MONDO:0008137 orofaciodigital syndrome X skos:exactMatch UMLS:C1833796 semapv:UnspecifiedMatching MONDO:0008137 orofaciodigital syndrome X skos:exactMatch mesh:C563491 semapv:UnspecifiedMatching MONDO:0008138 syndromic orbital border hypoplasia skos:exactMatch MEDGEN:318965 semapv:UnspecifiedMatching MONDO:0008138 syndromic orbital border hypoplasia skos:exactMatch OMIM:165600 orbital margin, hypoplasia of semapv:UnspecifiedMatching MONDO:0008138 syndromic orbital border hypoplasia skos:exactMatch Orphanet:98606 Syndromic orbital border hypoplasia semapv:UnspecifiedMatching MONDO:0008138 syndromic orbital border hypoplasia skos:exactMatch SCTID:717337001 semapv:UnspecifiedMatching MONDO:0008138 syndromic orbital border hypoplasia skos:exactMatch UMLS:C1833795 semapv:UnspecifiedMatching MONDO:0008138 syndromic orbital border hypoplasia skos:exactMatch mesh:C563490 semapv:UnspecifiedMatching MONDO:0008139 OSLAM syndrome skos:exactMatch MEDGEN:331588 semapv:UnspecifiedMatching MONDO:0008139 OSLAM syndrome skos:exactMatch OMIM:165660 oslam syndrome semapv:UnspecifiedMatching MONDO:0008139 OSLAM syndrome skos:exactMatch Orphanet:2760 OSLAM syndrome semapv:UnspecifiedMatching MONDO:0008139 OSLAM syndrome skos:exactMatch SCTID:733064004 semapv:UnspecifiedMatching MONDO:0008139 OSLAM syndrome skos:exactMatch UMLS:C1833792 semapv:UnspecifiedMatching MONDO:0008139 OSLAM syndrome skos:exactMatch mesh:C537138 semapv:UnspecifiedMatching MONDO:0008140 ossified ear cartilages skos:exactMatch MEDGEN:331587 semapv:UnspecifiedMatching MONDO:0008140 ossified ear cartilages skos:exactMatch OMIM:165670 ossified ear cartilages semapv:UnspecifiedMatching MONDO:0008140 ossified ear cartilages skos:exactMatch UMLS:C1833791 semapv:UnspecifiedMatching MONDO:0008140 ossified ear cartilages skos:exactMatch mesh:C563488 semapv:UnspecifiedMatching MONDO:0008141 ossicular malformations, familial skos:exactMatch MEDGEN:371652 semapv:UnspecifiedMatching MONDO:0008141 ossicular malformations, familial skos:exactMatch OMIM:165680 ossicular malformations, familial semapv:UnspecifiedMatching MONDO:0008141 ossicular malformations, familial skos:exactMatch UMLS:C1833790 semapv:UnspecifiedMatching MONDO:0008141 ossicular malformations, familial skos:exactMatch mesh:C537142 semapv:UnspecifiedMatching MONDO:0008142 Thiemann disease, familial form skos:exactMatch MEDGEN:82674 semapv:UnspecifiedMatching MONDO:0008142 Thiemann disease, familial form skos:exactMatch OMIM:165700 thiemann disease semapv:UnspecifiedMatching MONDO:0008142 Thiemann disease, familial form skos:exactMatch Orphanet:3314 Thiemann disease, familial form semapv:UnspecifiedMatching MONDO:0008142 Thiemann disease, familial form skos:exactMatch SCTID:55166000 semapv:UnspecifiedMatching MONDO:0008142 Thiemann disease, familial form skos:exactMatch UMLS:C0264081 semapv:UnspecifiedMatching MONDO:0008142 Thiemann disease, familial form skos:exactMatch icd11.foundation:67016273 Thiemann disease, familial form semapv:UnspecifiedMatching MONDO:0008142 Thiemann disease, familial form skos:exactMatch mesh:C537144 semapv:UnspecifiedMatching MONDO:0008143 osteoarthritis susceptibility 1 skos:exactMatch MEDGEN:854604 semapv:UnspecifiedMatching MONDO:0008143 osteoarthritis susceptibility 1 skos:exactMatch OMIM:165720 osteoarthritis susceptibility 1 semapv:UnspecifiedMatching MONDO:0008143 osteoarthritis susceptibility 1 skos:exactMatch UMLS:C3887876 semapv:UnspecifiedMatching MONDO:0008145 Ollier disease skos:exactMatch DOID:4624 Ollier disease semapv:UnspecifiedMatching MONDO:0008145 Ollier disease skos:exactMatch ICD10CM:Q78.4 Enchondromatosis semapv:UnspecifiedMatching MONDO:0008145 Ollier disease skos:exactMatch MEDGEN:41775 semapv:UnspecifiedMatching MONDO:0008145 Ollier disease skos:exactMatch NCIT:C3008 Enchondromatosis semapv:UnspecifiedMatching MONDO:0008145 Ollier disease skos:exactMatch OMIM:166000 enchondromatosis, multiple, ollier type semapv:UnspecifiedMatching MONDO:0008145 Ollier disease skos:exactMatch Orphanet:296 Ollier disease semapv:UnspecifiedMatching MONDO:0008145 Ollier disease skos:exactMatch SCTID:268274005 semapv:UnspecifiedMatching MONDO:0008145 Ollier disease skos:exactMatch UMLS:C0014084 semapv:UnspecifiedMatching MONDO:0008145 Ollier disease skos:exactMatch icd11.foundation:1648299787 Dyschondroplasia semapv:UnspecifiedMatching MONDO:0008146 osteogenesis imperfecta type 1 skos:exactMatch DOID:0110334 osteogenesis imperfecta type 1 semapv:UnspecifiedMatching MONDO:0008146 osteogenesis imperfecta type 1 skos:exactMatch MEDGEN:9799 semapv:UnspecifiedMatching MONDO:0008146 osteogenesis imperfecta type 1 skos:exactMatch NCIT:C99003 Osteogenesis Imperfecta Type I semapv:UnspecifiedMatching MONDO:0008146 osteogenesis imperfecta type 1 skos:exactMatch OMIM:166200 osteogenesis imperfecta, type 1 semapv:UnspecifiedMatching MONDO:0008146 osteogenesis imperfecta type 1 skos:exactMatch Orphanet:216796 Osteogenesis imperfecta type 1 semapv:UnspecifiedMatching MONDO:0008146 osteogenesis imperfecta type 1 skos:exactMatch SCTID:385482004 semapv:UnspecifiedMatching MONDO:0008146 osteogenesis imperfecta type 1 skos:exactMatch UMLS:C0023931 semapv:UnspecifiedMatching MONDO:0008146 osteogenesis imperfecta type 1 skos:exactMatch icd11.foundation:1897905410 Osteogenesis imperfecta type 1 semapv:UnspecifiedMatching MONDO:0008147 osteogenesis imperfecta type 2 skos:exactMatch DOID:0110341 osteogenesis imperfecta type 2 semapv:UnspecifiedMatching MONDO:0008147 osteogenesis imperfecta type 2 skos:exactMatch MEDGEN:75673 semapv:UnspecifiedMatching MONDO:0008147 osteogenesis imperfecta type 2 skos:exactMatch NCIT:C99001 Osteogenesis Imperfecta Type II semapv:UnspecifiedMatching MONDO:0008147 osteogenesis imperfecta type 2 skos:exactMatch OMIM:166210 osteogenesis imperfecta, type 2 semapv:UnspecifiedMatching MONDO:0008147 osteogenesis imperfecta type 2 skos:exactMatch Orphanet:216804 Osteogenesis imperfecta type 2 semapv:UnspecifiedMatching MONDO:0008147 osteogenesis imperfecta type 2 skos:exactMatch SCTID:86470003 semapv:UnspecifiedMatching MONDO:0008147 osteogenesis imperfecta type 2 skos:exactMatch UMLS:C0268358 semapv:UnspecifiedMatching MONDO:0008147 osteogenesis imperfecta type 2 skos:exactMatch icd11.foundation:2024049157 Osteogenesis imperfecta type 2 semapv:UnspecifiedMatching MONDO:0008147 osteogenesis imperfecta type 2 skos:exactMatch mesh:C536042 semapv:UnspecifiedMatching MONDO:0008148 osteogenesis imperfecta type 4 skos:exactMatch DOID:0110340 osteogenesis imperfecta type 4 semapv:UnspecifiedMatching MONDO:0008148 osteogenesis imperfecta type 4 skos:exactMatch MEDGEN:78665 semapv:UnspecifiedMatching MONDO:0008148 osteogenesis imperfecta type 4 skos:exactMatch NCIT:C98576 Osteogenesis Imperfecta Type IV semapv:UnspecifiedMatching MONDO:0008148 osteogenesis imperfecta type 4 skos:exactMatch OMIM:166220 osteogenesis imperfecta, type 4 semapv:UnspecifiedMatching MONDO:0008148 osteogenesis imperfecta type 4 skos:exactMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:UnspecifiedMatching MONDO:0008148 osteogenesis imperfecta type 4 skos:exactMatch SCTID:205497004 semapv:UnspecifiedMatching MONDO:0008148 osteogenesis imperfecta type 4 skos:exactMatch UMLS:C0268363 semapv:UnspecifiedMatching MONDO:0008148 osteogenesis imperfecta type 4 skos:exactMatch icd11.foundation:829297901 Osteogenesis imperfecta type 4 semapv:UnspecifiedMatching MONDO:0008148 osteogenesis imperfecta type 4 skos:exactMatch mesh:C536045 semapv:UnspecifiedMatching MONDO:0008149 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures skos:exactMatch DOID:0110335 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures semapv:UnspecifiedMatching MONDO:0008149 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures skos:exactMatch MEDGEN:331579 semapv:UnspecifiedMatching MONDO:0008149 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures skos:exactMatch OMIM:166230 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones, but without fractures semapv:UnspecifiedMatching MONDO:0008149 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures skos:exactMatch UMLS:C1833748 semapv:UnspecifiedMatching MONDO:0008149 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures skos:exactMatch mesh:C563487 semapv:UnspecifiedMatching MONDO:0008150 osteoglophonic dysplasia skos:exactMatch DOID:0111532 osteoglophonic dysplasia semapv:UnspecifiedMatching MONDO:0008150 osteoglophonic dysplasia skos:exactMatch MEDGEN:96592 semapv:UnspecifiedMatching MONDO:0008150 osteoglophonic dysplasia skos:exactMatch OMIM:166250 osteoglophonic dysplasia semapv:UnspecifiedMatching MONDO:0008150 osteoglophonic dysplasia skos:exactMatch Orphanet:2645 Osteoglosphonic dysplasia semapv:UnspecifiedMatching MONDO:0008150 osteoglophonic dysplasia skos:exactMatch SCTID:254144002 semapv:UnspecifiedMatching MONDO:0008150 osteoglophonic dysplasia skos:exactMatch UMLS:C0432283 semapv:UnspecifiedMatching MONDO:0008150 osteoglophonic dysplasia skos:exactMatch icd11.foundation:1427874962 Osteoglophonic dysplasia semapv:UnspecifiedMatching MONDO:0008150 osteoglophonic dysplasia skos:exactMatch mesh:C536050 semapv:UnspecifiedMatching MONDO:0008151 gnathodiaphyseal dysplasia skos:exactMatch DOID:0111533 gnathodiaphyseal dysplasia semapv:UnspecifiedMatching MONDO:0008151 gnathodiaphyseal dysplasia skos:exactMatch MEDGEN:331575 semapv:UnspecifiedMatching MONDO:0008151 gnathodiaphyseal dysplasia skos:exactMatch OMIM:166260 gnathodiaphyseal dysplasia semapv:UnspecifiedMatching MONDO:0008151 gnathodiaphyseal dysplasia skos:exactMatch Orphanet:53697 Gnathodiaphyseal dysplasia semapv:UnspecifiedMatching MONDO:0008151 gnathodiaphyseal dysplasia skos:exactMatch SCTID:715568002 semapv:UnspecifiedMatching MONDO:0008151 gnathodiaphyseal dysplasia skos:exactMatch UMLS:C1833736 semapv:UnspecifiedMatching MONDO:0008151 gnathodiaphyseal dysplasia skos:exactMatch icd11.foundation:1984860886 Gnathodiaphyseal dysplasia semapv:UnspecifiedMatching MONDO:0008151 gnathodiaphyseal dysplasia skos:exactMatch mesh:C536039 semapv:UnspecifiedMatching MONDO:0008152 multicentric carpo-tarsal osteolysis with or without nephropathy skos:exactMatch DOID:0111534 multicentric carpotarsal osteolysis syndrome semapv:UnspecifiedMatching MONDO:0008152 multicentric carpo-tarsal osteolysis with or without nephropathy skos:exactMatch MEDGEN:436237 semapv:UnspecifiedMatching MONDO:0008152 multicentric carpo-tarsal osteolysis with or without nephropathy skos:exactMatch OMIM:166300 multicentric carpotarsal osteolysis syndrome semapv:UnspecifiedMatching MONDO:0008152 multicentric carpo-tarsal osteolysis with or without nephropathy skos:exactMatch Orphanet:2774 Multicentric carpo-tarsal osteolysis with or without nephropathy semapv:UnspecifiedMatching MONDO:0008152 multicentric carpo-tarsal osteolysis with or without nephropathy skos:exactMatch SCTID:766992008 semapv:UnspecifiedMatching MONDO:0008152 multicentric carpo-tarsal osteolysis with or without nephropathy skos:exactMatch UMLS:C2674705 semapv:UnspecifiedMatching MONDO:0008152 multicentric carpo-tarsal osteolysis with or without nephropathy skos:exactMatch mesh:C567171 semapv:UnspecifiedMatching MONDO:0008153 progressive osseous heteroplasia skos:exactMatch DOID:0111535 progressive osseous heteroplasia semapv:UnspecifiedMatching MONDO:0008153 progressive osseous heteroplasia skos:exactMatch MEDGEN:137714 semapv:UnspecifiedMatching MONDO:0008153 progressive osseous heteroplasia skos:exactMatch OMIM:166350 osseous heteroplasia, progressive semapv:UnspecifiedMatching MONDO:0008153 progressive osseous heteroplasia skos:exactMatch Orphanet:2762 Progressive osseous heteroplasia semapv:UnspecifiedMatching MONDO:0008153 progressive osseous heteroplasia skos:exactMatch SCTID:719271000 semapv:UnspecifiedMatching MONDO:0008153 progressive osseous heteroplasia skos:exactMatch UMLS:C0334041 semapv:UnspecifiedMatching MONDO:0008153 progressive osseous heteroplasia skos:exactMatch icd11.foundation:1107209347 Progressive osseous heteroplasia semapv:UnspecifiedMatching MONDO:0008153 progressive osseous heteroplasia skos:exactMatch mesh:C562735 semapv:UnspecifiedMatching MONDO:0008154 osteomas of mandible skos:exactMatch MEDGEN:318953 semapv:UnspecifiedMatching MONDO:0008154 osteomas of mandible skos:exactMatch OMIM:166400 osteomas of mandible semapv:UnspecifiedMatching MONDO:0008154 osteomas of mandible skos:exactMatch UMLS:C1833733 semapv:UnspecifiedMatching MONDO:0008154 osteomas of mandible skos:exactMatch mesh:C563485 semapv:UnspecifiedMatching MONDO:0008155 osteomesopyknosis skos:exactMatch MEDGEN:98482 semapv:UnspecifiedMatching MONDO:0008155 osteomesopyknosis skos:exactMatch OMIM:166450 osteomesopyknosis semapv:UnspecifiedMatching MONDO:0008155 osteomesopyknosis skos:exactMatch Orphanet:2777 Osteomesopyknosis semapv:UnspecifiedMatching MONDO:0008155 osteomesopyknosis skos:exactMatch SCTID:254125009 semapv:UnspecifiedMatching MONDO:0008155 osteomesopyknosis skos:exactMatch UMLS:C0432264 semapv:UnspecifiedMatching MONDO:0008155 osteomesopyknosis skos:exactMatch icd11.foundation:455371627 Osteomesopyknosis semapv:UnspecifiedMatching MONDO:0008155 osteomesopyknosis skos:exactMatch mesh:C537792 semapv:UnspecifiedMatching MONDO:0008156 autosomal dominant osteopetrosis 2 skos:exactMatch DOID:0110938 autosomal dominant osteopetrosis 2 semapv:UnspecifiedMatching MONDO:0008156 autosomal dominant osteopetrosis 2 skos:exactMatch MEDGEN:465707 semapv:UnspecifiedMatching MONDO:0008156 autosomal dominant osteopetrosis 2 skos:exactMatch OMIM:166600 osteopetrosis, autosomal dominant 2 semapv:UnspecifiedMatching MONDO:0008156 autosomal dominant osteopetrosis 2 skos:exactMatch Orphanet:53 Albers-Schönberg osteopetrosis semapv:UnspecifiedMatching MONDO:0008156 autosomal dominant osteopetrosis 2 skos:exactMatch SCTID:725050005 semapv:UnspecifiedMatching MONDO:0008156 autosomal dominant osteopetrosis 2 skos:exactMatch UMLS:C3179239 semapv:UnspecifiedMatching MONDO:0008157 Buschke-Ollendorff syndrome skos:exactMatch DOID:0111536 Buschke-Ollendorff syndrome semapv:UnspecifiedMatching MONDO:0008157 Buschke-Ollendorff syndrome skos:exactMatch MEDGEN:120545 semapv:UnspecifiedMatching MONDO:0008157 Buschke-Ollendorff syndrome skos:exactMatch OMIM:166700 buschke-ollendorff syndrome semapv:UnspecifiedMatching MONDO:0008157 Buschke-Ollendorff syndrome skos:exactMatch UMLS:C0265514 semapv:UnspecifiedMatching MONDO:0008157 Buschke-Ollendorff syndrome skos:exactMatch icd11.foundation:1556522143 Buschke-Ollendorff syndrome semapv:UnspecifiedMatching MONDO:0008157 Buschke-Ollendorff syndrome skos:exactMatch mesh:C537415 semapv:UnspecifiedMatching MONDO:0008158 dacryocystitis-osteopoikilosis syndrome skos:exactMatch MEDGEN:318939 semapv:UnspecifiedMatching MONDO:0008158 dacryocystitis-osteopoikilosis syndrome skos:exactMatch OMIM:166705 osteopoikilosis and dacryocystitis semapv:UnspecifiedMatching MONDO:0008158 dacryocystitis-osteopoikilosis syndrome skos:exactMatch SCTID:721082002 semapv:UnspecifiedMatching MONDO:0008158 dacryocystitis-osteopoikilosis syndrome skos:exactMatch UMLS:C1833698 semapv:UnspecifiedMatching MONDO:0008158 dacryocystitis-osteopoikilosis syndrome skos:exactMatch mesh:C536061 semapv:UnspecifiedMatching MONDO:0008159 postmenopausal osteoporosis skos:exactMatch EFO:0003854 semapv:UnspecifiedMatching MONDO:0008159 postmenopausal osteoporosis skos:exactMatch MEDGEN:10498 semapv:UnspecifiedMatching MONDO:0008159 postmenopausal osteoporosis skos:exactMatch SCTID:102447009 semapv:UnspecifiedMatching MONDO:0008159 postmenopausal osteoporosis skos:exactMatch UMLS:C0029458 semapv:UnspecifiedMatching MONDO:0008159 postmenopausal osteoporosis skos:exactMatch icd11.foundation:123797893 Postmenopausal osteoporosis semapv:UnspecifiedMatching MONDO:0008159 postmenopausal osteoporosis skos:exactMatch mesh:D015663 semapv:UnspecifiedMatching MONDO:0008160 osteosclerosis with ichthyosis and fractures skos:exactMatch MEDGEN:331568 semapv:UnspecifiedMatching MONDO:0008160 osteosclerosis with ichthyosis and fractures skos:exactMatch OMIM:166740 osteosclerosis with ichthyosis and fractures semapv:UnspecifiedMatching MONDO:0008160 osteosclerosis with ichthyosis and fractures skos:exactMatch UMLS:C1833697 semapv:UnspecifiedMatching MONDO:0008160 osteosclerosis with ichthyosis and fractures skos:exactMatch mesh:C563483 semapv:UnspecifiedMatching MONDO:0008161 otodental syndrome skos:exactMatch MEDGEN:318937 semapv:UnspecifiedMatching MONDO:0008161 otodental syndrome skos:exactMatch OMIM:166750 otodental dysplasia semapv:UnspecifiedMatching MONDO:0008161 otodental syndrome skos:exactMatch Orphanet:2791 Otodental syndrome semapv:UnspecifiedMatching MONDO:0008161 otodental syndrome skos:exactMatch SCTID:707310009 semapv:UnspecifiedMatching MONDO:0008161 otodental syndrome skos:exactMatch UMLS:C1833693 semapv:UnspecifiedMatching MONDO:0008161 otodental syndrome skos:exactMatch mesh:C563482 semapv:UnspecifiedMatching MONDO:0008162 otitis media, susceptibility to skos:exactMatch MEDGEN:318936 semapv:UnspecifiedMatching MONDO:0008162 otitis media, susceptibility to skos:exactMatch OMIM:166760 otitis media, susceptibility to semapv:UnspecifiedMatching MONDO:0008162 otitis media, susceptibility to skos:exactMatch UMLS:C1833692 semapv:UnspecifiedMatching MONDO:0008163 otofaciocervical syndrome skos:exactMatch MEDGEN:322257 semapv:UnspecifiedMatching MONDO:0008163 otofaciocervical syndrome skos:exactMatch OMIMPS:166780 Otofaciocervical syndrome semapv:UnspecifiedMatching MONDO:0008163 otofaciocervical syndrome skos:exactMatch Orphanet:2792 Otofaciocervical syndrome semapv:UnspecifiedMatching MONDO:0008163 otofaciocervical syndrome skos:exactMatch UMLS:C1833691 semapv:UnspecifiedMatching MONDO:0008163 otofaciocervical syndrome skos:exactMatch mesh:C563481 semapv:UnspecifiedMatching MONDO:0008164 otosclerosis 1 skos:exactMatch DOID:0060920 otosclerosis 1 semapv:UnspecifiedMatching MONDO:0008164 otosclerosis 1 skos:exactMatch MEDGEN:1639517 semapv:UnspecifiedMatching MONDO:0008164 otosclerosis 1 skos:exactMatch OMIM:166800 otosclerosis 1 semapv:UnspecifiedMatching MONDO:0008164 otosclerosis 1 skos:exactMatch UMLS:C4551901 semapv:UnspecifiedMatching MONDO:0008165 southeast Asian ovalocytosis skos:exactMatch MEDGEN:350649 semapv:UnspecifiedMatching MONDO:0008165 southeast Asian ovalocytosis skos:exactMatch OMIM:166900 ovalocytosis, southeast asian semapv:UnspecifiedMatching MONDO:0008165 southeast Asian ovalocytosis skos:exactMatch Orphanet:98868 Southeast Asian ovalocytosis semapv:UnspecifiedMatching MONDO:0008165 southeast Asian ovalocytosis skos:exactMatch SCTID:191169008 semapv:UnspecifiedMatching MONDO:0008165 southeast Asian ovalocytosis skos:exactMatch UMLS:C1862322 semapv:UnspecifiedMatching MONDO:0008165 southeast Asian ovalocytosis skos:exactMatch icd11.foundation:835618545 Southeast Asian ovalocytosis semapv:UnspecifiedMatching MONDO:0008166 ovalocytosis, hereditary hemolytic, with defective erythropoiesis skos:exactMatch MEDGEN:322255 semapv:UnspecifiedMatching MONDO:0008166 ovalocytosis, hereditary hemolytic, with defective erythropoiesis skos:exactMatch OMIM:166910 ovalocytosis, hereditary hemolytic, with defective erythropoiesis semapv:UnspecifiedMatching MONDO:0008166 ovalocytosis, hereditary hemolytic, with defective erythropoiesis skos:exactMatch UMLS:C1833689 semapv:UnspecifiedMatching MONDO:0008166 ovalocytosis, hereditary hemolytic, with defective erythropoiesis skos:exactMatch mesh:C563479 semapv:UnspecifiedMatching MONDO:0008167 dermoid cyst of ovary skos:exactMatch DOID:5117 dermoid cyst of ovary semapv:UnspecifiedMatching MONDO:0008167 dermoid cyst of ovary skos:exactMatch MEDGEN:68637 semapv:UnspecifiedMatching MONDO:0008167 dermoid cyst of ovary skos:exactMatch NCIT:C3856 Ovarian Dermoid Cyst semapv:UnspecifiedMatching MONDO:0008167 dermoid cyst of ovary skos:exactMatch OMIM:166950 teratoma, ovarian semapv:UnspecifiedMatching MONDO:0008167 dermoid cyst of ovary skos:exactMatch UMLS:C0237020 semapv:UnspecifiedMatching MONDO:0008167 dermoid cyst of ovary skos:exactMatch icd11.foundation:1067463359 Dermoid cyst of ovary semapv:UnspecifiedMatching MONDO:0008167 dermoid cyst of ovary skos:exactMatch mesh:C562731 semapv:UnspecifiedMatching MONDO:0008168 ovarian fibroma skos:exactMatch MEDGEN:57706 semapv:UnspecifiedMatching MONDO:0008168 ovarian fibroma skos:exactMatch NCIT:C3498 Ovarian Fibroma semapv:UnspecifiedMatching MONDO:0008168 ovarian fibroma skos:exactMatch OMIM:166970 ovarian fibromata semapv:UnspecifiedMatching MONDO:0008168 ovarian fibroma skos:exactMatch Orphanet:314473 Ovarian fibroma semapv:UnspecifiedMatching MONDO:0008168 ovarian fibroma skos:exactMatch SCTID:254865006 semapv:UnspecifiedMatching MONDO:0008168 ovarian fibroma skos:exactMatch UMLS:C0149951 semapv:UnspecifiedMatching MONDO:0008168 ovarian fibroma skos:exactMatch icd11.foundation:871413134 Ovarian fibroma semapv:UnspecifiedMatching MONDO:0008168 ovarian fibroma skos:exactMatch mesh:C562391 semapv:UnspecifiedMatching MONDO:0008169 osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension skos:exactMatch MEDGEN:322254 semapv:UnspecifiedMatching MONDO:0008169 osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension skos:exactMatch OMIM:166990 osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension semapv:UnspecifiedMatching MONDO:0008169 osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension skos:exactMatch UMLS:C1833688 semapv:UnspecifiedMatching MONDO:0008169 osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension skos:exactMatch mesh:C563478 semapv:UnspecifiedMatching MONDO:0008170 ovarian cancer skos:exactMatch DOID:2394 ovarian cancer semapv:UnspecifiedMatching MONDO:0008170 ovarian cancer skos:exactMatch ICD10CM:C56 Malignant neoplasm of ovary semapv:UnspecifiedMatching MONDO:0008170 ovarian cancer skos:exactMatch MEDGEN:216027 semapv:UnspecifiedMatching MONDO:0008170 ovarian cancer skos:exactMatch NCIT:C7431 Malignant Ovarian Neoplasm semapv:UnspecifiedMatching MONDO:0008170 ovarian cancer skos:exactMatch OMIM:167000 ovarian cancer semapv:UnspecifiedMatching MONDO:0008170 ovarian cancer skos:exactMatch Orphanet:213500 Rare ovarian cancer semapv:UnspecifiedMatching MONDO:0008170 ovarian cancer skos:exactMatch SCTID:363443007 semapv:UnspecifiedMatching MONDO:0008170 ovarian cancer skos:exactMatch UMLS:C1140680 semapv:UnspecifiedMatching MONDO:0008170 ovarian cancer skos:exactMatch icd11.foundation:685124533 Malignant neoplasms of ovary semapv:UnspecifiedMatching MONDO:0008170 ovarian cancer skos:exactMatch mesh:D010051 semapv:UnspecifiedMatching MONDO:0008171 nephrolithiasis skos:exactMatch DOID:585 nephrolithiasis semapv:UnspecifiedMatching MONDO:0008171 nephrolithiasis skos:exactMatch EFO:0004253 semapv:UnspecifiedMatching MONDO:0008171 nephrolithiasis skos:exactMatch MEDGEN:98227 semapv:UnspecifiedMatching MONDO:0008171 nephrolithiasis skos:exactMatch NCIT:C114667 Nephrolithiasis semapv:UnspecifiedMatching MONDO:0008171 nephrolithiasis skos:exactMatch SCTID:266556005 semapv:UnspecifiedMatching MONDO:0008171 nephrolithiasis skos:exactMatch UMLS:C0392525 semapv:UnspecifiedMatching MONDO:0008171 nephrolithiasis skos:exactMatch mesh:D053040 semapv:UnspecifiedMatching MONDO:0008172 hypertrophic osteoarthropathy, primary, autosomal dominant skos:exactMatch MEDGEN:382429 semapv:UnspecifiedMatching MONDO:0008172 hypertrophic osteoarthropathy, primary, autosomal dominant skos:exactMatch OMIM:167100 hypertrophic osteoarthropathy, primary, autosomal dominant semapv:UnspecifiedMatching MONDO:0008172 hypertrophic osteoarthropathy, primary, autosomal dominant skos:exactMatch UMLS:C2674695 semapv:UnspecifiedMatching MONDO:0008173 pachyonychia congenita 1 skos:exactMatch MEDGEN:353335 semapv:UnspecifiedMatching MONDO:0008173 pachyonychia congenita 1 skos:exactMatch OMIM:167200 pachyonychia congenita 1 semapv:UnspecifiedMatching MONDO:0008173 pachyonychia congenita 1 skos:exactMatch SCTID:39427000 semapv:UnspecifiedMatching MONDO:0008173 pachyonychia congenita 1 skos:exactMatch UMLS:C1706595 semapv:UnspecifiedMatching MONDO:0008174 pachyonychia congenita 2 skos:exactMatch MEDGEN:314107 semapv:UnspecifiedMatching MONDO:0008174 pachyonychia congenita 2 skos:exactMatch OMIM:167210 pachyonychia congenita 2 semapv:UnspecifiedMatching MONDO:0008174 pachyonychia congenita 2 skos:exactMatch UMLS:C1721007 semapv:UnspecifiedMatching MONDO:0008175 pacman dysplasia skos:exactMatch MEDGEN:331566 semapv:UnspecifiedMatching MONDO:0008175 pacman dysplasia skos:exactMatch OMIM:167220 pacman dysplasia semapv:UnspecifiedMatching MONDO:0008175 pacman dysplasia skos:exactMatch Orphanet:1952 Epiphyseal stippling-osteoclastic hyperplasia syndrome semapv:UnspecifiedMatching MONDO:0008175 pacman dysplasia skos:exactMatch SCTID:722127006 semapv:UnspecifiedMatching MONDO:0008175 pacman dysplasia skos:exactMatch UMLS:C1833676 semapv:UnspecifiedMatching MONDO:0008175 pacman dysplasia skos:exactMatch icd11.foundation:519938437 Pacman dysplasia semapv:UnspecifiedMatching MONDO:0008175 pacman dysplasia skos:exactMatch mesh:C538095 semapv:UnspecifiedMatching MONDO:0008176 Paget disease of bone 3 skos:exactMatch DOID:0081366 Paget's disease of bone 3 semapv:UnspecifiedMatching MONDO:0008176 Paget disease of bone 3 skos:exactMatch MEDGEN:895927 semapv:UnspecifiedMatching MONDO:0008176 Paget disease of bone 3 skos:exactMatch OMIM:167250 paget disease of bone 3 semapv:UnspecifiedMatching MONDO:0008176 Paget disease of bone 3 skos:exactMatch UMLS:C4085252 semapv:UnspecifiedMatching MONDO:0008177 extramammary Paget disease skos:exactMatch EFO:1000249 semapv:UnspecifiedMatching MONDO:0008177 extramammary Paget disease skos:exactMatch MEDGEN:45280 semapv:UnspecifiedMatching MONDO:0008177 extramammary Paget disease skos:exactMatch NCIT:C3302 Extramammary Paget Disease semapv:UnspecifiedMatching MONDO:0008177 extramammary Paget disease skos:exactMatch OMIM:167300 paget disease, extramammary semapv:UnspecifiedMatching MONDO:0008177 extramammary Paget disease skos:exactMatch Orphanet:2800 Extramammary Paget disease semapv:UnspecifiedMatching MONDO:0008177 extramammary Paget disease skos:exactMatch UMLS:C0030186 semapv:UnspecifiedMatching MONDO:0008177 extramammary Paget disease skos:exactMatch icd11.foundation:1796624917 Extramammary Paget disease of skin semapv:UnspecifiedMatching MONDO:0008177 extramammary Paget disease skos:exactMatch mesh:D010145 semapv:UnspecifiedMatching MONDO:0008178 inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 skos:exactMatch DOID:0111385 inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1 semapv:UnspecifiedMatching MONDO:0008178 inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 skos:exactMatch MEDGEN:1641069 semapv:UnspecifiedMatching MONDO:0008178 inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 skos:exactMatch NCIT:C122663 Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1 semapv:UnspecifiedMatching MONDO:0008178 inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 skos:exactMatch OMIM:167320 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 semapv:UnspecifiedMatching MONDO:0008178 inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 skos:exactMatch UMLS:C4551951 semapv:UnspecifiedMatching MONDO:0008178 inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 skos:exactMatch mesh:C563476 semapv:UnspecifiedMatching MONDO:0008179 paroxysmal extreme pain disorder skos:exactMatch DOID:0111537 paroxysmal extreme pain disorder semapv:UnspecifiedMatching MONDO:0008179 paroxysmal extreme pain disorder skos:exactMatch MEDGEN:331565 semapv:UnspecifiedMatching MONDO:0008179 paroxysmal extreme pain disorder skos:exactMatch NCIT:C125385 Paroxysmal Extreme Pain Disorder semapv:UnspecifiedMatching MONDO:0008179 paroxysmal extreme pain disorder skos:exactMatch OMIM:167400 paroxysmal extreme pain disorder semapv:UnspecifiedMatching MONDO:0008179 paroxysmal extreme pain disorder skos:exactMatch Orphanet:46348 Paroxysmal extreme pain disorder semapv:UnspecifiedMatching MONDO:0008179 paroxysmal extreme pain disorder skos:exactMatch SCTID:699190008 semapv:UnspecifiedMatching MONDO:0008179 paroxysmal extreme pain disorder skos:exactMatch UMLS:C1833661 semapv:UnspecifiedMatching MONDO:0008179 paroxysmal extreme pain disorder skos:exactMatch icd11.foundation:9604457 Paroxysmal extreme pain disorder semapv:UnspecifiedMatching MONDO:0008179 paroxysmal extreme pain disorder skos:exactMatch mesh:C563475 semapv:UnspecifiedMatching MONDO:0008180 congenital velopharyngeal incompetence skos:exactMatch MEDGEN:52992 semapv:UnspecifiedMatching MONDO:0008180 congenital velopharyngeal incompetence skos:exactMatch OMIM:167500 palatopharyngeal incompetence semapv:UnspecifiedMatching MONDO:0008180 congenital velopharyngeal incompetence skos:exactMatch Orphanet:2291 Congenital velopharyngeal incompetence semapv:UnspecifiedMatching MONDO:0008180 congenital velopharyngeal incompetence skos:exactMatch UMLS:C0042454 semapv:UnspecifiedMatching MONDO:0008180 congenital velopharyngeal incompetence skos:exactMatch icd11.foundation:158386351 Congenital velopharyngeal incompetence semapv:UnspecifiedMatching MONDO:0008180 congenital velopharyngeal incompetence skos:exactMatch mesh:D014681 semapv:UnspecifiedMatching MONDO:0008181 palmaris longus muscle, absence of skos:exactMatch MEDGEN:357025 semapv:UnspecifiedMatching MONDO:0008181 palmaris longus muscle, absence of skos:exactMatch OMIM:167600 palmaris longus muscle, absence of semapv:UnspecifiedMatching MONDO:0008181 palmaris longus muscle, absence of skos:exactMatch UMLS:C1868661 semapv:UnspecifiedMatching MONDO:0008182 nasopalpebral lipoma-coloboma syndrome skos:exactMatch MEDGEN:358378 semapv:UnspecifiedMatching MONDO:0008182 nasopalpebral lipoma-coloboma syndrome skos:exactMatch OMIM:167730 nasopalpebral lipoma-coloboma syndrome semapv:UnspecifiedMatching MONDO:0008182 nasopalpebral lipoma-coloboma syndrome skos:exactMatch Orphanet:2399 Nasopalpebral lipoma-coloboma syndrome semapv:UnspecifiedMatching MONDO:0008182 nasopalpebral lipoma-coloboma syndrome skos:exactMatch SCTID:723411003 semapv:UnspecifiedMatching MONDO:0008182 nasopalpebral lipoma-coloboma syndrome skos:exactMatch UMLS:C1868660 semapv:UnspecifiedMatching MONDO:0008182 nasopalpebral lipoma-coloboma syndrome skos:exactMatch mesh:C538338 semapv:UnspecifiedMatching MONDO:0008183 annular pancreas skos:exactMatch DOID:0060850 annular pancreas semapv:UnspecifiedMatching MONDO:0008183 annular pancreas skos:exactMatch ICD10CM:Q45.1 Annular pancreas semapv:UnspecifiedMatching MONDO:0008183 annular pancreas skos:exactMatch MEDGEN:56211 semapv:UnspecifiedMatching MONDO:0008183 annular pancreas skos:exactMatch NCIT:C98813 Annular Pancreas semapv:UnspecifiedMatching MONDO:0008183 annular pancreas skos:exactMatch OMIM:167750 pancreas, annular semapv:UnspecifiedMatching MONDO:0008183 annular pancreas skos:exactMatch Orphanet:675 Annular pancreas semapv:UnspecifiedMatching MONDO:0008183 annular pancreas skos:exactMatch SCTID:40315008 semapv:UnspecifiedMatching MONDO:0008183 annular pancreas skos:exactMatch UMLS:C0149955 semapv:UnspecifiedMatching MONDO:0008183 annular pancreas skos:exactMatch icd11.foundation:1311285827 Annular pancreas semapv:UnspecifiedMatching MONDO:0008183 annular pancreas skos:exactMatch mesh:C536376 semapv:UnspecifiedMatching MONDO:0008184 pancreas, dorsal, agenesis of skos:exactMatch MEDGEN:357024 semapv:UnspecifiedMatching MONDO:0008184 pancreas, dorsal, agenesis of skos:exactMatch OMIM:167755 pancreas, dorsal, agenesis of semapv:UnspecifiedMatching MONDO:0008184 pancreas, dorsal, agenesis of skos:exactMatch UMLS:C1868659 semapv:UnspecifiedMatching MONDO:0008184 pancreas, dorsal, agenesis of skos:exactMatch mesh:C538109 semapv:UnspecifiedMatching MONDO:0008185 hereditary chronic pancreatitis skos:exactMatch MEDGEN:116056 semapv:UnspecifiedMatching MONDO:0008185 hereditary chronic pancreatitis skos:exactMatch NCIT:C95436 Hereditary Pancreatitis semapv:UnspecifiedMatching MONDO:0008185 hereditary chronic pancreatitis skos:exactMatch OMIM:167800 pancreatitis, hereditary semapv:UnspecifiedMatching MONDO:0008185 hereditary chronic pancreatitis skos:exactMatch Orphanet:676 Autosomal dominant hereditary chronic pancreatitis semapv:UnspecifiedMatching MONDO:0008185 hereditary chronic pancreatitis skos:exactMatch SCTID:68072000 semapv:UnspecifiedMatching MONDO:0008185 hereditary chronic pancreatitis skos:exactMatch UMLS:C0238339 semapv:UnspecifiedMatching MONDO:0008185 hereditary chronic pancreatitis skos:exactMatch icd11.foundation:1287702961 Hereditary chronic pancreatitis semapv:UnspecifiedMatching MONDO:0008185 hereditary chronic pancreatitis skos:exactMatch mesh:C537262 semapv:UnspecifiedMatching MONDO:0008186 pancytopenia and occlusive vascular disease skos:exactMatch MEDGEN:358375 semapv:UnspecifiedMatching MONDO:0008186 pancytopenia and occlusive vascular disease skos:exactMatch OMIM:167850 pancytopenia and occlusive vascular disease semapv:UnspecifiedMatching MONDO:0008186 pancytopenia and occlusive vascular disease skos:exactMatch UMLS:C1868652 semapv:UnspecifiedMatching MONDO:0008186 pancytopenia and occlusive vascular disease skos:exactMatch mesh:C566836 semapv:UnspecifiedMatching MONDO:0008187 panic disorder 1 skos:exactMatch MEDGEN:401493 semapv:UnspecifiedMatching MONDO:0008187 panic disorder 1 skos:exactMatch OMIM:167870 panic disorder 1 semapv:UnspecifiedMatching MONDO:0008187 panic disorder 1 skos:exactMatch UMLS:C1868649 semapv:UnspecifiedMatching MONDO:0008188 papillomatosis, confluent and reticulated skos:exactMatch MEDGEN:472991 semapv:UnspecifiedMatching MONDO:0008188 papillomatosis, confluent and reticulated skos:exactMatch OMIM:167900 papillomatosis, confluent and reticulated semapv:UnspecifiedMatching MONDO:0008188 papillomatosis, confluent and reticulated skos:exactMatch UMLS:C0263385 semapv:UnspecifiedMatching MONDO:0008188 papillomatosis, confluent and reticulated skos:exactMatch mesh:C566832 semapv:UnspecifiedMatching MONDO:0008189 papillomatosis, florid, of nipple skos:exactMatch MEDGEN:401492 semapv:UnspecifiedMatching MONDO:0008189 papillomatosis, florid, of nipple skos:exactMatch OMIM:167950 papillomatosis, florid, of nipple semapv:UnspecifiedMatching MONDO:0008189 papillomatosis, florid, of nipple skos:exactMatch SCTID:237467005 semapv:UnspecifiedMatching MONDO:0008189 papillomatosis, florid, of nipple skos:exactMatch UMLS:C1868647 semapv:UnspecifiedMatching MONDO:0008189 papillomatosis, florid, of nipple skos:exactMatch mesh:C537167 semapv:UnspecifiedMatching MONDO:0008190 obsolete human papillomavirus type 18 integration site 1 skos:exactMatch OMIM:167959 human papillomavirus type 18 integration site 1 semapv:UnspecifiedMatching MONDO:0008191 obsolete human papillomavirus type 18 integration site 2 skos:exactMatch OMIM:167960 human papillomavirus type 18 integration site 2 semapv:UnspecifiedMatching MONDO:0008192 pheochromocytoma/paraganglioma syndrome 1 skos:exactMatch DOID:0061216 pheochromocytoma/paraganglioma syndrome 1 semapv:UnspecifiedMatching MONDO:0008192 pheochromocytoma/paraganglioma syndrome 1 skos:exactMatch MEDGEN:488134 semapv:UnspecifiedMatching MONDO:0008192 pheochromocytoma/paraganglioma syndrome 1 skos:exactMatch OMIM:168000 pheochromocytoma/paraganglioma syndrome 1 semapv:UnspecifiedMatching MONDO:0008192 pheochromocytoma/paraganglioma syndrome 1 skos:exactMatch UMLS:C3494181 semapv:UnspecifiedMatching MONDO:0008193 paralysis agitans, juvenile, of Hunt skos:exactMatch MEDGEN:66768 semapv:UnspecifiedMatching MONDO:0008193 paralysis agitans, juvenile, of Hunt skos:exactMatch OMIM:168100 paralysis agitans, juvenile, of hunt semapv:UnspecifiedMatching MONDO:0008193 paralysis agitans, juvenile, of Hunt skos:exactMatch SCTID:43647007 semapv:UnspecifiedMatching MONDO:0008193 paralysis agitans, juvenile, of Hunt skos:exactMatch UMLS:C0238344 semapv:UnspecifiedMatching MONDO:0008193 paralysis agitans, juvenile, of Hunt skos:exactMatch mesh:C562469 semapv:UnspecifiedMatching MONDO:0008194 Paramolar tubercle of bolk skos:exactMatch MEDGEN:539640 semapv:UnspecifiedMatching MONDO:0008194 Paramolar tubercle of bolk skos:exactMatch OMIM:168200 paramolar tubercle of bolk semapv:UnspecifiedMatching MONDO:0008194 Paramolar tubercle of bolk skos:exactMatch SCTID:78305006 semapv:UnspecifiedMatching MONDO:0008194 Paramolar tubercle of bolk skos:exactMatch UMLS:C0266029 semapv:UnspecifiedMatching MONDO:0008195 paramyotonia congenita of Von Eulenburg skos:exactMatch DOID:0111538 paramyotonia congenita of Von Eulenburg semapv:UnspecifiedMatching MONDO:0008195 paramyotonia congenita of Von Eulenburg skos:exactMatch MEDGEN:113142 semapv:UnspecifiedMatching MONDO:0008195 paramyotonia congenita of Von Eulenburg skos:exactMatch NCIT:C122790 Paramyotonia Congenita semapv:UnspecifiedMatching MONDO:0008195 paramyotonia congenita of Von Eulenburg skos:exactMatch OMIM:168300 paramyotonia congenita semapv:UnspecifiedMatching MONDO:0008195 paramyotonia congenita of Von Eulenburg skos:exactMatch Orphanet:684 Paramyotonia congenita of Von Eulenburg semapv:UnspecifiedMatching MONDO:0008195 paramyotonia congenita of Von Eulenburg skos:exactMatch SCTID:41574007 semapv:UnspecifiedMatching MONDO:0008195 paramyotonia congenita of Von Eulenburg skos:exactMatch UMLS:C0221055 semapv:UnspecifiedMatching MONDO:0008195 paramyotonia congenita of Von Eulenburg skos:exactMatch icd11.foundation:1740060527 Paramyotonia congenita semapv:UnspecifiedMatching MONDO:0008196 parastremmatic dwarfism skos:exactMatch DOID:0111539 parastremmatic dwarfism semapv:UnspecifiedMatching MONDO:0008196 parastremmatic dwarfism skos:exactMatch MEDGEN:358366 semapv:UnspecifiedMatching MONDO:0008196 parastremmatic dwarfism skos:exactMatch OMIM:168400 parastremmatic dwarfism semapv:UnspecifiedMatching MONDO:0008196 parastremmatic dwarfism skos:exactMatch SCTID:722210007 semapv:UnspecifiedMatching MONDO:0008196 parastremmatic dwarfism skos:exactMatch UMLS:C1868616 semapv:UnspecifiedMatching MONDO:0008196 parastremmatic dwarfism skos:exactMatch icd11.foundation:431936114 Parastremmatic dwarfism semapv:UnspecifiedMatching MONDO:0008196 parastremmatic dwarfism skos:exactMatch mesh:C537172 semapv:UnspecifiedMatching MONDO:0008197 parietal foramina 1 skos:exactMatch MEDGEN:401480 semapv:UnspecifiedMatching MONDO:0008197 parietal foramina 1 skos:exactMatch OMIM:168500 parietal foramina 1 semapv:UnspecifiedMatching MONDO:0008197 parietal foramina 1 skos:exactMatch UMLS:C1868599 semapv:UnspecifiedMatching MONDO:0008197 parietal foramina 1 skos:exactMatch mesh:C566827 semapv:UnspecifiedMatching MONDO:0008198 parietal foramina with cleidocranial dysplasia skos:exactMatch MEDGEN:401479 semapv:UnspecifiedMatching MONDO:0008198 parietal foramina with cleidocranial dysplasia skos:exactMatch OMIM:168550 parietal foramina with cleidocranial dysplasia semapv:UnspecifiedMatching MONDO:0008198 parietal foramina with cleidocranial dysplasia skos:exactMatch Orphanet:251290 Parietal foramina with clavicular hypoplasia semapv:UnspecifiedMatching MONDO:0008198 parietal foramina with cleidocranial dysplasia skos:exactMatch UMLS:C1868597 semapv:UnspecifiedMatching MONDO:0008198 parietal foramina with cleidocranial dysplasia skos:exactMatch mesh:C566825 semapv:UnspecifiedMatching MONDO:0008199 late-onset Parkinson disease skos:exactMatch DOID:0060892 late onset Parkinson's disease semapv:UnspecifiedMatching MONDO:0008199 late-onset Parkinson disease skos:exactMatch MEDGEN:463618 semapv:UnspecifiedMatching MONDO:0008199 late-onset Parkinson disease skos:exactMatch OMIM:168600 parkinson disease, late-onset semapv:UnspecifiedMatching MONDO:0008199 late-onset Parkinson disease skos:exactMatch Orphanet:411602 Hereditary late-onset Parkinson disease semapv:UnspecifiedMatching MONDO:0008199 late-onset Parkinson disease skos:exactMatch SCTID:716662004 semapv:UnspecifiedMatching MONDO:0008199 late-onset Parkinson disease skos:exactMatch UMLS:C3160718 semapv:UnspecifiedMatching MONDO:0008200 autosomal dominant Parkinson disease 1 skos:exactMatch DOID:0060367 Parkinson's disease 1 semapv:UnspecifiedMatching MONDO:0008200 autosomal dominant Parkinson disease 1 skos:exactMatch MEDGEN:357008 semapv:UnspecifiedMatching MONDO:0008200 autosomal dominant Parkinson disease 1 skos:exactMatch OMIM:168601 parkinson disease 1, autosomal dominant semapv:UnspecifiedMatching MONDO:0008200 autosomal dominant Parkinson disease 1 skos:exactMatch UMLS:C1868595 semapv:UnspecifiedMatching MONDO:0008200 autosomal dominant Parkinson disease 1 skos:exactMatch mesh:C566823 semapv:UnspecifiedMatching MONDO:0008201 Perry syndrome skos:exactMatch DOID:0060486 Perry syndrome semapv:UnspecifiedMatching MONDO:0008201 Perry syndrome skos:exactMatch MEDGEN:357007 semapv:UnspecifiedMatching MONDO:0008201 Perry syndrome skos:exactMatch OMIM:168605 perry syndrome semapv:UnspecifiedMatching MONDO:0008201 Perry syndrome skos:exactMatch Orphanet:178509 Perry syndrome semapv:UnspecifiedMatching MONDO:0008201 Perry syndrome skos:exactMatch SCTID:699184009 semapv:UnspecifiedMatching MONDO:0008201 Perry syndrome skos:exactMatch UMLS:C1868594 semapv:UnspecifiedMatching MONDO:0008201 Perry syndrome skos:exactMatch icd11.foundation:1441227658 Perry syndrome semapv:UnspecifiedMatching MONDO:0008201 Perry syndrome skos:exactMatch mesh:C566822 semapv:UnspecifiedMatching MONDO:0008202 Parotidomegaly, hereditary bilateral skos:exactMatch MEDGEN:401477 semapv:UnspecifiedMatching MONDO:0008202 Parotidomegaly, hereditary bilateral skos:exactMatch OMIM:168800 parotidomegaly, hereditary bilateral semapv:UnspecifiedMatching MONDO:0008202 Parotidomegaly, hereditary bilateral skos:exactMatch UMLS:C1868590 semapv:UnspecifiedMatching MONDO:0008202 Parotidomegaly, hereditary bilateral skos:exactMatch mesh:C566821 semapv:UnspecifiedMatching MONDO:0008203 Passovoy factor defect skos:exactMatch MEDGEN:461057 semapv:UnspecifiedMatching MONDO:0008203 Passovoy factor defect skos:exactMatch OMIM:168830 passovoy factor defect semapv:UnspecifiedMatching MONDO:0008203 Passovoy factor defect skos:exactMatch UMLS:C3149707 semapv:UnspecifiedMatching MONDO:0008204 obsolete patella aplasia, coxa vara, and tarsal synostosis skos:exactMatch OMIM:168850 semapv:UnspecifiedMatching MONDO:0008204 obsolete patella aplasia, coxa vara, and tarsal synostosis skos:exactMatch mesh:C536307 semapv:UnspecifiedMatching MONDO:0008205 patella aplasia/hypoplasia skos:exactMatch MEDGEN:358246 semapv:UnspecifiedMatching MONDO:0008205 patella aplasia/hypoplasia skos:exactMatch OMIM:168860 patella aplasia-hypoplasia semapv:UnspecifiedMatching MONDO:0008205 patella aplasia/hypoplasia skos:exactMatch Orphanet:86789 Isolated patella aplasia/hypoplasia semapv:UnspecifiedMatching MONDO:0008205 patella aplasia/hypoplasia skos:exactMatch UMLS:C1868577 semapv:UnspecifiedMatching MONDO:0008205 patella aplasia/hypoplasia skos:exactMatch icd11.foundation:88577362 Patella aplasia or hypoplasia semapv:UnspecifiedMatching MONDO:0008205 patella aplasia/hypoplasia skos:exactMatch mesh:C535568 semapv:UnspecifiedMatching MONDO:0008206 benign paroxysmal tonic upgaze of childhood with ataxia skos:exactMatch MEDGEN:401473 semapv:UnspecifiedMatching MONDO:0008206 benign paroxysmal tonic upgaze of childhood with ataxia skos:exactMatch OMIM:168885 neuroocular syndrome 2, paroxysmal type semapv:UnspecifiedMatching MONDO:0008206 benign paroxysmal tonic upgaze of childhood with ataxia skos:exactMatch Orphanet:1179 Benign paroxysmal tonic upgaze of childhood with ataxia semapv:UnspecifiedMatching MONDO:0008206 benign paroxysmal tonic upgaze of childhood with ataxia skos:exactMatch SCTID:763127004 semapv:UnspecifiedMatching MONDO:0008206 benign paroxysmal tonic upgaze of childhood with ataxia skos:exactMatch UMLS:C1868576 semapv:UnspecifiedMatching MONDO:0008206 benign paroxysmal tonic upgaze of childhood with ataxia skos:exactMatch mesh:C566817 semapv:UnspecifiedMatching MONDO:0008207 chondromalacia patellae skos:exactMatch DOID:13357 chondromalacia patellae semapv:UnspecifiedMatching MONDO:0008207 chondromalacia patellae skos:exactMatch ICD10CM:M22.4 Chondromalacia patellae semapv:UnspecifiedMatching MONDO:0008207 chondromalacia patellae skos:exactMatch MEDGEN:939 semapv:UnspecifiedMatching MONDO:0008207 chondromalacia patellae skos:exactMatch OMIM:168900 patella, chondromalacia of semapv:UnspecifiedMatching MONDO:0008207 chondromalacia patellae skos:exactMatch SCTID:36071006 semapv:UnspecifiedMatching MONDO:0008207 chondromalacia patellae skos:exactMatch UMLS:C0008475 semapv:UnspecifiedMatching MONDO:0008207 chondromalacia patellae skos:exactMatch icd11.foundation:1589625540 Chondromalacia patellae semapv:UnspecifiedMatching MONDO:0008207 chondromalacia patellae skos:exactMatch mesh:D046789 semapv:UnspecifiedMatching MONDO:0008208 patella, familial recurrent dislocation of skos:exactMatch MEDGEN:358245 semapv:UnspecifiedMatching MONDO:0008208 patella, familial recurrent dislocation of skos:exactMatch OMIM:169000 patella, familial recurrent dislocation of semapv:UnspecifiedMatching MONDO:0008208 patella, familial recurrent dislocation of skos:exactMatch UMLS:C1868575 semapv:UnspecifiedMatching MONDO:0008208 patella, familial recurrent dislocation of skos:exactMatch mesh:C566816 semapv:UnspecifiedMatching MONDO:0008209 Char syndrome skos:exactMatch DOID:0060563 Char syndrome semapv:UnspecifiedMatching MONDO:0008209 Char syndrome skos:exactMatch MEDGEN:358356 semapv:UnspecifiedMatching MONDO:0008209 Char syndrome skos:exactMatch OMIM:169100 CHAR syndrome semapv:UnspecifiedMatching MONDO:0008209 Char syndrome skos:exactMatch Orphanet:46627 Char syndrome semapv:UnspecifiedMatching MONDO:0008209 Char syndrome skos:exactMatch SCTID:703534001 semapv:UnspecifiedMatching MONDO:0008209 Char syndrome skos:exactMatch UMLS:C1868570 semapv:UnspecifiedMatching MONDO:0008209 Char syndrome skos:exactMatch mesh:C566815 semapv:UnspecifiedMatching MONDO:0008210 patterned macular dystrophy 1 skos:exactMatch DOID:0060866 patterned macular dystrophy 1 semapv:UnspecifiedMatching MONDO:0008210 patterned macular dystrophy 1 skos:exactMatch MEDGEN:1646806 semapv:UnspecifiedMatching MONDO:0008210 patterned macular dystrophy 1 skos:exactMatch OMIM:169150 macular dystrophy, patterned, 1 semapv:UnspecifiedMatching MONDO:0008210 patterned macular dystrophy 1 skos:exactMatch UMLS:C4551999 semapv:UnspecifiedMatching MONDO:0008211 pseudoleprechaunism syndrome, Patterson type skos:exactMatch MEDGEN:358350 semapv:UnspecifiedMatching MONDO:0008211 pseudoleprechaunism syndrome, Patterson type skos:exactMatch OMIM:169170 patterson pseudoleprechaunism syndrome semapv:UnspecifiedMatching MONDO:0008211 pseudoleprechaunism syndrome, Patterson type skos:exactMatch Orphanet:2976 Pseudoleprechaunism syndrome, Patterson type semapv:UnspecifiedMatching MONDO:0008211 pseudoleprechaunism syndrome, Patterson type skos:exactMatch UMLS:C1868546 semapv:UnspecifiedMatching MONDO:0008211 pseudoleprechaunism syndrome, Patterson type skos:exactMatch mesh:C536310 semapv:UnspecifiedMatching MONDO:0008212 Pechet factor deficiency skos:exactMatch MEDGEN:358349 semapv:UnspecifiedMatching MONDO:0008212 Pechet factor deficiency skos:exactMatch OMIM:169200 pechet factor deficiency semapv:UnspecifiedMatching MONDO:0008212 Pechet factor deficiency skos:exactMatch UMLS:C1868545 semapv:UnspecifiedMatching MONDO:0008212 Pechet factor deficiency skos:exactMatch mesh:C566814 semapv:UnspecifiedMatching MONDO:0008213 pectus excavatum skos:exactMatch ICD10CM:Q67.6 Pectus excavatum semapv:UnspecifiedMatching MONDO:0008213 pectus excavatum skos:exactMatch MEDGEN:781174 semapv:UnspecifiedMatching MONDO:0008213 pectus excavatum skos:exactMatch OMIM:169300 pectus excavatum semapv:UnspecifiedMatching MONDO:0008213 pectus excavatum skos:exactMatch SCTID:391987005 semapv:UnspecifiedMatching MONDO:0008213 pectus excavatum skos:exactMatch UMLS:C2051831 semapv:UnspecifiedMatching MONDO:0008213 pectus excavatum skos:exactMatch icd11.foundation:9248522 Pectus excavatum semapv:UnspecifiedMatching MONDO:0008213 pectus excavatum skos:exactMatch mesh:D005660 semapv:UnspecifiedMatching MONDO:0008214 Pelger-Huet anomaly skos:exactMatch DOID:9631 Pelger-Huet anomaly semapv:UnspecifiedMatching MONDO:0008214 Pelger-Huet anomaly skos:exactMatch EFO:1001093 semapv:UnspecifiedMatching MONDO:0008214 Pelger-Huet anomaly skos:exactMatch MEDGEN:10617 semapv:UnspecifiedMatching MONDO:0008214 Pelger-Huet anomaly skos:exactMatch NCIT:C85002 Pelger-Huet Anomaly semapv:UnspecifiedMatching MONDO:0008214 Pelger-Huet anomaly skos:exactMatch OMIM:169400 pelger-huet anomaly semapv:UnspecifiedMatching MONDO:0008214 Pelger-Huet anomaly skos:exactMatch SCTID:85559002 semapv:UnspecifiedMatching MONDO:0008214 Pelger-Huet anomaly skos:exactMatch UMLS:C0030779 semapv:UnspecifiedMatching MONDO:0008214 Pelger-Huet anomaly skos:exactMatch icd11.foundation:1210390183 Pelger-Huet anomaly semapv:UnspecifiedMatching MONDO:0008214 Pelger-Huet anomaly skos:exactMatch mesh:D010381 semapv:UnspecifiedMatching MONDO:0008215 adult-onset autosomal dominant demyelinating leukodystrophy skos:exactMatch DOID:0051015 adult onset demyelinating leukodystrophy semapv:UnspecifiedMatching MONDO:0008215 adult-onset autosomal dominant demyelinating leukodystrophy skos:exactMatch DOID:0060785 typical adult-onset autosomal dominant demyelinating leukodystrophy semapv:UnspecifiedMatching MONDO:0008215 adult-onset autosomal dominant demyelinating leukodystrophy skos:exactMatch MEDGEN:356995 semapv:UnspecifiedMatching MONDO:0008215 adult-onset autosomal dominant demyelinating leukodystrophy skos:exactMatch OMIMPS:169500 Leukodystrophy, demyelinating, adult-onset semapv:UnspecifiedMatching MONDO:0008215 adult-onset autosomal dominant demyelinating leukodystrophy skos:exactMatch Orphanet:99027 Adult-onset autosomal dominant leukodystrophy semapv:UnspecifiedMatching MONDO:0008215 adult-onset autosomal dominant demyelinating leukodystrophy skos:exactMatch SCTID:448054001 semapv:UnspecifiedMatching MONDO:0008215 adult-onset autosomal dominant demyelinating leukodystrophy skos:exactMatch UMLS:C1868512 semapv:UnspecifiedMatching MONDO:0008215 adult-onset autosomal dominant demyelinating leukodystrophy skos:exactMatch mesh:C566813 semapv:UnspecifiedMatching MONDO:0008216 pelvic lipomatosis with crossed renal ectopia skos:exactMatch MEDGEN:356994 semapv:UnspecifiedMatching MONDO:0008216 pelvic lipomatosis with crossed renal ectopia skos:exactMatch OMIM:169545 pelvic lipomatosis with crossed renal ectopia semapv:UnspecifiedMatching MONDO:0008216 pelvic lipomatosis with crossed renal ectopia skos:exactMatch UMLS:C1868511 semapv:UnspecifiedMatching MONDO:0008216 pelvic lipomatosis with crossed renal ectopia skos:exactMatch mesh:C566812 semapv:UnspecifiedMatching MONDO:0008217 pelvis-shoulder dysplasia skos:exactMatch MEDGEN:356991 semapv:UnspecifiedMatching MONDO:0008217 pelvis-shoulder dysplasia skos:exactMatch OMIM:169550 pelvis-shoulder dysplasia semapv:UnspecifiedMatching MONDO:0008217 pelvis-shoulder dysplasia skos:exactMatch Orphanet:2839 Pelvis-shoulder dysplasia semapv:UnspecifiedMatching MONDO:0008217 pelvis-shoulder dysplasia skos:exactMatch SCTID:719298001 semapv:UnspecifiedMatching MONDO:0008217 pelvis-shoulder dysplasia skos:exactMatch UMLS:C1868508 semapv:UnspecifiedMatching MONDO:0008217 pelvis-shoulder dysplasia skos:exactMatch mesh:C566811 semapv:UnspecifiedMatching MONDO:0008218 Hailey-Hailey disease skos:exactMatch DOID:0050429 Hailey-Hailey disease semapv:UnspecifiedMatching MONDO:0008218 Hailey-Hailey disease skos:exactMatch MEDGEN:43100 semapv:UnspecifiedMatching MONDO:0008218 Hailey-Hailey disease skos:exactMatch NCIT:C82865 Familial Benign Pemphigus semapv:UnspecifiedMatching MONDO:0008218 Hailey-Hailey disease skos:exactMatch OMIM:169600 hailey-hailey disease semapv:UnspecifiedMatching MONDO:0008218 Hailey-Hailey disease skos:exactMatch Orphanet:2841 Hailey-Hailey disease semapv:UnspecifiedMatching MONDO:0008218 Hailey-Hailey disease skos:exactMatch SCTID:79468000 semapv:UnspecifiedMatching MONDO:0008218 Hailey-Hailey disease skos:exactMatch UMLS:C0085106 semapv:UnspecifiedMatching MONDO:0008218 Hailey-Hailey disease skos:exactMatch icd11.foundation:818400628 Hailey-Hailey disease semapv:UnspecifiedMatching MONDO:0008218 Hailey-Hailey disease skos:exactMatch mesh:D016506 semapv:UnspecifiedMatching MONDO:0008219 pemphigus vulgaris skos:exactMatch DOID:0060851 pemphigus vulgaris semapv:UnspecifiedMatching MONDO:0008219 pemphigus vulgaris skos:exactMatch EFO:0004719 semapv:UnspecifiedMatching MONDO:0008219 pemphigus vulgaris skos:exactMatch ICD10CM:L10.0 Pemphigus vulgaris semapv:UnspecifiedMatching MONDO:0008219 pemphigus vulgaris skos:exactMatch MEDGEN:10621 semapv:UnspecifiedMatching MONDO:0008219 pemphigus vulgaris skos:exactMatch NCIT:C34910 Pemphigus Vulgaris semapv:UnspecifiedMatching MONDO:0008219 pemphigus vulgaris skos:exactMatch OMIM:169610 pemphigus vulgaris, familial semapv:UnspecifiedMatching MONDO:0008219 pemphigus vulgaris skos:exactMatch Orphanet:704 Pemphigus vulgaris semapv:UnspecifiedMatching MONDO:0008219 pemphigus vulgaris skos:exactMatch SCTID:49420001 semapv:UnspecifiedMatching MONDO:0008219 pemphigus vulgaris skos:exactMatch UMLS:C0030809 semapv:UnspecifiedMatching MONDO:0008219 pemphigus vulgaris skos:exactMatch icd11.foundation:278358681 Pemphigus vulgaris semapv:UnspecifiedMatching MONDO:0008219 pemphigus vulgaris skos:exactMatch mesh:C536645 semapv:UnspecifiedMatching MONDO:0008220 obsolete pepsinogen 3, group 1 skos:exactMatch OMIM:169710 pepsinogen 3, group 1 semapv:UnspecifiedMatching MONDO:0008221 prolidase deficiency skos:exactMatch DOID:0111540 prolidase deficiency semapv:UnspecifiedMatching MONDO:0008221 prolidase deficiency skos:exactMatch MEDGEN:120647 semapv:UnspecifiedMatching MONDO:0008221 prolidase deficiency skos:exactMatch NCIT:C85029 Prolidase Deficiency semapv:UnspecifiedMatching MONDO:0008221 prolidase deficiency skos:exactMatch OMIM:170100 prolidase deficiency semapv:UnspecifiedMatching MONDO:0008221 prolidase deficiency skos:exactMatch Orphanet:742 Prolidase deficiency semapv:UnspecifiedMatching MONDO:0008221 prolidase deficiency skos:exactMatch SCTID:410055005 semapv:UnspecifiedMatching MONDO:0008221 prolidase deficiency skos:exactMatch UMLS:C0268532 semapv:UnspecifiedMatching MONDO:0008221 prolidase deficiency skos:exactMatch icd11.foundation:1416203271 Prolidase deficiency semapv:UnspecifiedMatching MONDO:0008221 prolidase deficiency skos:exactMatch mesh:D056732 semapv:UnspecifiedMatching MONDO:0008222 Andersen-Tawil syndrome skos:exactMatch DOID:0050434 Andersen-Tawil syndrome semapv:UnspecifiedMatching MONDO:0008222 Andersen-Tawil syndrome skos:exactMatch MEDGEN:327586 semapv:UnspecifiedMatching MONDO:0008222 Andersen-Tawil syndrome skos:exactMatch NCIT:C84559 Long QT Syndrome 7 semapv:UnspecifiedMatching MONDO:0008222 Andersen-Tawil syndrome skos:exactMatch OMIM:170390 andersen cardiodysrhythmic periodic paralysis semapv:UnspecifiedMatching MONDO:0008222 Andersen-Tawil syndrome skos:exactMatch Orphanet:37553 Andersen-Tawil syndrome semapv:UnspecifiedMatching MONDO:0008222 Andersen-Tawil syndrome skos:exactMatch SCTID:422348008 semapv:UnspecifiedMatching MONDO:0008222 Andersen-Tawil syndrome skos:exactMatch UMLS:C1563715 semapv:UnspecifiedMatching MONDO:0008222 Andersen-Tawil syndrome skos:exactMatch mesh:D050030 semapv:UnspecifiedMatching MONDO:0008223 hypokalemic periodic paralysis skos:exactMatch DOID:14452 hypokalemic periodic paralysis semapv:UnspecifiedMatching MONDO:0008223 hypokalemic periodic paralysis skos:exactMatch MEDGEN:116058 semapv:UnspecifiedMatching MONDO:0008223 hypokalemic periodic paralysis skos:exactMatch NCIT:C84775 Hypokalemic Periodic Paralysis semapv:UnspecifiedMatching MONDO:0008223 hypokalemic periodic paralysis skos:exactMatch Orphanet:681 Hypokalemic periodic paralysis semapv:UnspecifiedMatching MONDO:0008223 hypokalemic periodic paralysis skos:exactMatch SCTID:82732003 semapv:UnspecifiedMatching MONDO:0008223 hypokalemic periodic paralysis skos:exactMatch UMLS:C0238358 semapv:UnspecifiedMatching MONDO:0008223 hypokalemic periodic paralysis skos:exactMatch icd11.foundation:1494773635 Hypokalaemic periodic paralysis semapv:UnspecifiedMatching MONDO:0008223 hypokalemic periodic paralysis skos:exactMatch mesh:D020514 semapv:UnspecifiedMatching MONDO:0008224 hyperkalemic periodic paralysis skos:exactMatch DOID:14451 hyperkalemic periodic paralysis semapv:UnspecifiedMatching MONDO:0008224 hyperkalemic periodic paralysis skos:exactMatch MEDGEN:68665 semapv:UnspecifiedMatching MONDO:0008224 hyperkalemic periodic paralysis skos:exactMatch NCIT:C123429 Hyperkalemic Periodic Paralysis semapv:UnspecifiedMatching MONDO:0008224 hyperkalemic periodic paralysis skos:exactMatch OMIM:170500 hyperkalemic periodic paralysis semapv:UnspecifiedMatching MONDO:0008224 hyperkalemic periodic paralysis skos:exactMatch Orphanet:682 Hyperkalemic periodic paralysis semapv:UnspecifiedMatching MONDO:0008224 hyperkalemic periodic paralysis skos:exactMatch SCTID:304737009 semapv:UnspecifiedMatching MONDO:0008224 hyperkalemic periodic paralysis skos:exactMatch UMLS:C0238357 semapv:UnspecifiedMatching MONDO:0008224 hyperkalemic periodic paralysis skos:exactMatch icd11.foundation:1308452752 Hyperkalaemic periodic paralysis semapv:UnspecifiedMatching MONDO:0008224 hyperkalemic periodic paralysis skos:exactMatch mesh:D020513 semapv:UnspecifiedMatching MONDO:0008225 normokalemic periodic paralysis skos:exactMatch MEDGEN:78678 semapv:UnspecifiedMatching MONDO:0008225 normokalemic periodic paralysis skos:exactMatch NCIT:C122791 Normokalemic Periodic Paralysis semapv:UnspecifiedMatching MONDO:0008225 normokalemic periodic paralysis skos:exactMatch OMIM:170600 normokalemic periodic paralysis semapv:UnspecifiedMatching MONDO:0008225 normokalemic periodic paralysis skos:exactMatch SCTID:40381009 semapv:UnspecifiedMatching MONDO:0008225 normokalemic periodic paralysis skos:exactMatch UMLS:C0268445 semapv:UnspecifiedMatching MONDO:0008226 periodontitis, aggressive 1 skos:exactMatch DOID:0061237 semapv:UnspecifiedMatching MONDO:0008226 periodontitis, aggressive 1 skos:exactMatch DOID:1474 aggressive periodontitis semapv:UnspecifiedMatching MONDO:0008226 periodontitis, aggressive 1 skos:exactMatch EFO:0006342 semapv:UnspecifiedMatching MONDO:0008226 periodontitis, aggressive 1 skos:exactMatch OMIM:170650 periodontitis, aggressive, 1 semapv:UnspecifiedMatching MONDO:0008226 periodontitis, aggressive 1 skos:exactMatch mesh:D010520 semapv:UnspecifiedMatching MONDO:0008227 peripheral dysostosis skos:exactMatch MEDGEN:1648357 semapv:UnspecifiedMatching MONDO:0008227 peripheral dysostosis skos:exactMatch OMIM:170700 peripheral dysostosis semapv:UnspecifiedMatching MONDO:0008227 peripheral dysostosis skos:exactMatch UMLS:C4721502 semapv:UnspecifiedMatching MONDO:0008228 pernicious anemia skos:exactMatch DOID:13381 pernicious anemia semapv:UnspecifiedMatching MONDO:0008228 pernicious anemia skos:exactMatch EFO:0005576 semapv:UnspecifiedMatching MONDO:0008228 pernicious anemia skos:exactMatch ICD10CM:D51.0 Vitamin B12 deficiency anemia due to intrinsic factor deficiency semapv:UnspecifiedMatching MONDO:0008228 pernicious anemia skos:exactMatch MEDGEN:1531 semapv:UnspecifiedMatching MONDO:0008228 pernicious anemia skos:exactMatch NCIT:C2871 Pernicious Anemia semapv:UnspecifiedMatching MONDO:0008228 pernicious anemia skos:exactMatch OMIM:170900 pernicious anemia semapv:UnspecifiedMatching MONDO:0008228 pernicious anemia skos:exactMatch SCTID:84027009 semapv:UnspecifiedMatching MONDO:0008228 pernicious anemia skos:exactMatch UMLS:C0002892 semapv:UnspecifiedMatching MONDO:0008228 pernicious anemia skos:exactMatch mesh:D000752 semapv:UnspecifiedMatching MONDO:0008229 peroneal nerve, accessory deep skos:exactMatch MEDGEN:358317 semapv:UnspecifiedMatching MONDO:0008229 peroneal nerve, accessory deep skos:exactMatch OMIM:170980 peroneal nerve, accessory deep semapv:UnspecifiedMatching MONDO:0008229 peroneal nerve, accessory deep skos:exactMatch UMLS:C1868426 semapv:UnspecifiedMatching MONDO:0008229 peroneal nerve, accessory deep skos:exactMatch mesh:C536001 semapv:UnspecifiedMatching MONDO:0008230 peroxidase, salivary skos:exactMatch MEDGEN:401440 semapv:UnspecifiedMatching MONDO:0008230 peroxidase, salivary skos:exactMatch OMIM:170990 peroxidase, salivary semapv:UnspecifiedMatching MONDO:0008230 peroxidase, salivary skos:exactMatch UMLS:C1868425 semapv:UnspecifiedMatching MONDO:0008231 Peyronie disease skos:exactMatch DOID:8616 Peyronie's disease semapv:UnspecifiedMatching MONDO:0008231 Peyronie disease skos:exactMatch ICD10CM:N48.6 Induration penis plastica semapv:UnspecifiedMatching MONDO:0008231 Peyronie disease skos:exactMatch MEDGEN:10629 semapv:UnspecifiedMatching MONDO:0008231 Peyronie disease skos:exactMatch NCIT:C3316 Penile Fibromatosis semapv:UnspecifiedMatching MONDO:0008231 Peyronie disease skos:exactMatch OMIM:171000 peyronie disease semapv:UnspecifiedMatching MONDO:0008231 Peyronie disease skos:exactMatch UMLS:C0030848 semapv:UnspecifiedMatching MONDO:0008232 phagocytosis, plasma-related defect 1N skos:exactMatch MEDGEN:356965 semapv:UnspecifiedMatching MONDO:0008232 phagocytosis, plasma-related defect 1N skos:exactMatch OMIM:171100 phagocytosis, plasma-related defect 1n semapv:UnspecifiedMatching MONDO:0008232 phagocytosis, plasma-related defect 1N skos:exactMatch UMLS:C1868402 semapv:UnspecifiedMatching MONDO:0008232 phagocytosis, plasma-related defect 1N skos:exactMatch mesh:C566808 semapv:UnspecifiedMatching MONDO:0008233 pheochromocytoma skos:exactMatch DOID:0050771 pheochromocytoma semapv:UnspecifiedMatching MONDO:0008233 pheochromocytoma skos:exactMatch MEDGEN:18419 semapv:UnspecifiedMatching MONDO:0008233 pheochromocytoma skos:exactMatch OMIM:171300 pheochromocytoma semapv:UnspecifiedMatching MONDO:0008233 pheochromocytoma skos:exactMatch UMLS:C0031511 semapv:UnspecifiedMatching MONDO:0008233 pheochromocytoma skos:exactMatch icd11.foundation:13029801 Phaeochromocytoma semapv:UnspecifiedMatching MONDO:0008233 pheochromocytoma skos:exactMatch mesh:D010673 semapv:UnspecifiedMatching MONDO:0008234 multiple endocrine neoplasia type 2A skos:exactMatch DOID:0050430 multiple endocrine neoplasia type 2A semapv:UnspecifiedMatching MONDO:0008234 multiple endocrine neoplasia type 2A skos:exactMatch MEDGEN:9958 semapv:UnspecifiedMatching MONDO:0008234 multiple endocrine neoplasia type 2A skos:exactMatch NCIT:C3226 Multiple Endocrine Neoplasia Type 2A semapv:UnspecifiedMatching MONDO:0008234 multiple endocrine neoplasia type 2A skos:exactMatch OMIM:171400 multiple endocrine neoplasia, type 2a semapv:UnspecifiedMatching MONDO:0008234 multiple endocrine neoplasia type 2A skos:exactMatch Orphanet:247698 Multiple endocrine neoplasia type 2A semapv:UnspecifiedMatching MONDO:0008234 multiple endocrine neoplasia type 2A skos:exactMatch SCTID:721188000 semapv:UnspecifiedMatching MONDO:0008234 multiple endocrine neoplasia type 2A skos:exactMatch UMLS:C0025268 semapv:UnspecifiedMatching MONDO:0008234 multiple endocrine neoplasia type 2A skos:exactMatch icd11.foundation:1689268035 Multiple endocrine neoplasia type 2A semapv:UnspecifiedMatching MONDO:0008234 multiple endocrine neoplasia type 2A skos:exactMatch mesh:D018813 semapv:UnspecifiedMatching MONDO:0008235 pheochromocytoma-islet cell tumor syndrome skos:exactMatch MEDGEN:401431 semapv:UnspecifiedMatching MONDO:0008235 pheochromocytoma-islet cell tumor syndrome skos:exactMatch OMIM:171420 pheochromocytoma--islet cell tumor syndrome semapv:UnspecifiedMatching MONDO:0008235 pheochromocytoma-islet cell tumor syndrome skos:exactMatch UMLS:C1868392 semapv:UnspecifiedMatching MONDO:0008235 pheochromocytoma-islet cell tumor syndrome skos:exactMatch mesh:C566807 semapv:UnspecifiedMatching MONDO:0008236 phlebectasia of lips skos:exactMatch MEDGEN:356962 semapv:UnspecifiedMatching MONDO:0008236 phlebectasia of lips skos:exactMatch OMIM:171450 phlebectasia of lips semapv:UnspecifiedMatching MONDO:0008236 phlebectasia of lips skos:exactMatch UMLS:C1868391 semapv:UnspecifiedMatching MONDO:0008236 phlebectasia of lips skos:exactMatch mesh:C566806 semapv:UnspecifiedMatching MONDO:0008237 phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome skos:exactMatch MEDGEN:356961 semapv:UnspecifiedMatching MONDO:0008237 phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome skos:exactMatch OMIM:171480 phocomelia-ectrodactyly, ear malformation, deafness, and sinus arrhythmia semapv:UnspecifiedMatching MONDO:0008237 phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome skos:exactMatch UMLS:C1868390 semapv:UnspecifiedMatching MONDO:0008237 phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome skos:exactMatch mesh:C537498 semapv:UnspecifiedMatching MONDO:0008238 phosphatase, acid, of tissues skos:exactMatch MEDGEN:361808 semapv:UnspecifiedMatching MONDO:0008238 phosphatase, acid, of tissues skos:exactMatch OMIM:171660 phosphatase, acid, of tissues semapv:UnspecifiedMatching MONDO:0008238 phosphatase, acid, of tissues skos:exactMatch UMLS:C1876163 semapv:UnspecifiedMatching MONDO:0008239 phosphoglucomutase 4 skos:exactMatch MEDGEN:358301 semapv:UnspecifiedMatching MONDO:0008239 phosphoglucomutase 4 skos:exactMatch OMIM:172110 phosphoglucomutase 4 semapv:UnspecifiedMatching MONDO:0008239 phosphoglucomutase 4 skos:exactMatch UMLS:C1868356 semapv:UnspecifiedMatching MONDO:0008240 6-phosphogluconolactonase deficiency skos:exactMatch MEDGEN:358188 semapv:UnspecifiedMatching MONDO:0008240 6-phosphogluconolactonase deficiency skos:exactMatch OMIM:172150 6-phosphogluconolactonase deficiency semapv:UnspecifiedMatching MONDO:0008240 6-phosphogluconolactonase deficiency skos:exactMatch UMLS:C1868355 semapv:UnspecifiedMatching MONDO:0008240 6-phosphogluconolactonase deficiency skos:exactMatch mesh:C566803 semapv:UnspecifiedMatching MONDO:0008241 phosphoglycoprotein 1 skos:exactMatch MEDGEN:401424 semapv:UnspecifiedMatching MONDO:0008241 phosphoglycoprotein 1 skos:exactMatch OMIM:172290 phosphoglycoprotein 1 semapv:UnspecifiedMatching MONDO:0008241 phosphoglycoprotein 1 skos:exactMatch UMLS:C1868352 semapv:UnspecifiedMatching MONDO:0008242 photomyoclonus, diabetes mellitus, deafness, nephropathy, and cerebral dysfunction skos:exactMatch MEDGEN:315660 semapv:UnspecifiedMatching MONDO:0008242 photomyoclonus, diabetes mellitus, deafness, nephropathy, and cerebral dysfunction skos:exactMatch OMIM:172500 photomyoclonus, diabetes mellitus, deafness, nephropathy, and cerebral dysfunction semapv:UnspecifiedMatching MONDO:0008242 photomyoclonus, diabetes mellitus, deafness, nephropathy, and cerebral dysfunction skos:exactMatch SCTID:237612000 semapv:UnspecifiedMatching MONDO:0008242 photomyoclonus, diabetes mellitus, deafness, nephropathy, and cerebral dysfunction skos:exactMatch UMLS:C1809475 semapv:UnspecifiedMatching MONDO:0008242 photomyoclonus, diabetes mellitus, deafness, nephropathy, and cerebral dysfunction skos:exactMatch mesh:C538113 semapv:UnspecifiedMatching MONDO:0008243 Pick disease skos:exactMatch DOID:11870 Pick's disease semapv:UnspecifiedMatching MONDO:0008243 Pick disease skos:exactMatch EFO:0003096 semapv:UnspecifiedMatching MONDO:0008243 Pick disease skos:exactMatch ICD10CM:G31.01 Pick's disease semapv:UnspecifiedMatching MONDO:0008243 Pick disease skos:exactMatch MEDGEN:116020 semapv:UnspecifiedMatching MONDO:0008243 Pick disease skos:exactMatch NCIT:C85008 Pick's Disease semapv:UnspecifiedMatching MONDO:0008243 Pick disease skos:exactMatch OMIM:172700 pick disease of brain semapv:UnspecifiedMatching MONDO:0008243 Pick disease skos:exactMatch SCTID:13092008 semapv:UnspecifiedMatching MONDO:0008243 Pick disease skos:exactMatch UMLS:C0236642 semapv:UnspecifiedMatching MONDO:0008243 Pick disease skos:exactMatch mesh:D020774 semapv:UnspecifiedMatching MONDO:0008244 piebaldism skos:exactMatch DOID:3263 piebaldism semapv:UnspecifiedMatching MONDO:0008244 piebaldism skos:exactMatch MEDGEN:36361 semapv:UnspecifiedMatching MONDO:0008244 piebaldism skos:exactMatch NCIT:C85009 Piebaldism semapv:UnspecifiedMatching MONDO:0008244 piebaldism skos:exactMatch OMIM:172800 piebald trait semapv:UnspecifiedMatching MONDO:0008244 piebaldism skos:exactMatch Orphanet:2884 Piebaldism semapv:UnspecifiedMatching MONDO:0008244 piebaldism skos:exactMatch SCTID:6479008 semapv:UnspecifiedMatching MONDO:0008244 piebaldism skos:exactMatch UMLS:C0080024 semapv:UnspecifiedMatching MONDO:0008244 piebaldism skos:exactMatch icd11.foundation:2089421143 Piebaldism semapv:UnspecifiedMatching MONDO:0008244 piebaldism skos:exactMatch mesh:D016116 semapv:UnspecifiedMatching MONDO:0008245 piebald trait-neurologic defects syndrome skos:exactMatch MEDGEN:358177 semapv:UnspecifiedMatching MONDO:0008245 piebald trait-neurologic defects syndrome skos:exactMatch OMIM:172850 piebald trait with neurologic defects semapv:UnspecifiedMatching MONDO:0008245 piebald trait-neurologic defects syndrome skos:exactMatch Orphanet:2885 Piebald trait-neurologic defects syndrome semapv:UnspecifiedMatching MONDO:0008245 piebald trait-neurologic defects syndrome skos:exactMatch UMLS:C1868311 semapv:UnspecifiedMatching MONDO:0008245 piebald trait-neurologic defects syndrome skos:exactMatch mesh:C536955 semapv:UnspecifiedMatching MONDO:0008246 pigmented paravenous retinochoroidal atrophy skos:exactMatch DOID:0111541 pigmented paravenous chorioretinal atrophy semapv:UnspecifiedMatching MONDO:0008246 pigmented paravenous retinochoroidal atrophy skos:exactMatch MEDGEN:401413 semapv:UnspecifiedMatching MONDO:0008246 pigmented paravenous retinochoroidal atrophy skos:exactMatch OMIM:172870 pigmented paravenous chorioretinal atrophy semapv:UnspecifiedMatching MONDO:0008246 pigmented paravenous retinochoroidal atrophy skos:exactMatch Orphanet:251295 Pigmented paravenous retinochoroidal atrophy semapv:UnspecifiedMatching MONDO:0008246 pigmented paravenous retinochoroidal atrophy skos:exactMatch SCTID:723450004 semapv:UnspecifiedMatching MONDO:0008246 pigmented paravenous retinochoroidal atrophy skos:exactMatch UMLS:C1868310 semapv:UnspecifiedMatching MONDO:0008246 pigmented paravenous retinochoroidal atrophy skos:exactMatch icd11.foundation:1278139412 Pigmented paravenous retinochoroidal atrophy semapv:UnspecifiedMatching MONDO:0008246 pigmented paravenous retinochoroidal atrophy skos:exactMatch mesh:C566801 semapv:UnspecifiedMatching MONDO:0008247 Robin sequence-oligodactyly syndrome skos:exactMatch MEDGEN:358176 semapv:UnspecifiedMatching MONDO:0008247 Robin sequence-oligodactyly syndrome skos:exactMatch OMIM:172880 pierre robin syndrome and oligodactyly semapv:UnspecifiedMatching MONDO:0008247 Robin sequence-oligodactyly syndrome skos:exactMatch Orphanet:3104 Robin sequence-oligodactyly syndrome semapv:UnspecifiedMatching MONDO:0008247 Robin sequence-oligodactyly syndrome skos:exactMatch UMLS:C1868309 semapv:UnspecifiedMatching MONDO:0008247 Robin sequence-oligodactyly syndrome skos:exactMatch mesh:C535688 semapv:UnspecifiedMatching MONDO:0008248 pigmented purpuric eruption skos:exactMatch MEDGEN:96058 semapv:UnspecifiedMatching MONDO:0008248 pigmented purpuric eruption skos:exactMatch OMIM:172900 pigmented purpuric eruption semapv:UnspecifiedMatching MONDO:0008248 pigmented purpuric eruption skos:exactMatch SCTID:20343006 semapv:UnspecifiedMatching MONDO:0008248 pigmented purpuric eruption skos:exactMatch UMLS:C0406515 semapv:UnspecifiedMatching MONDO:0008248 pigmented purpuric eruption skos:exactMatch mesh:C537186 semapv:UnspecifiedMatching MONDO:0008249 pilonidal sinus skos:exactMatch MEDGEN:19314 semapv:UnspecifiedMatching MONDO:0008249 pilonidal sinus skos:exactMatch OMIM:173000 pilonidal sinus semapv:UnspecifiedMatching MONDO:0008249 pilonidal sinus skos:exactMatch SCTID:47639008 semapv:UnspecifiedMatching MONDO:0008249 pilonidal sinus skos:exactMatch UMLS:C0031925 semapv:UnspecifiedMatching MONDO:0008249 pilonidal sinus skos:exactMatch mesh:D010864 semapv:UnspecifiedMatching MONDO:0008250 isolated growth hormone deficiency type II skos:exactMatch DOID:0060872 isolated growth hormone deficiency type II semapv:UnspecifiedMatching MONDO:0008250 isolated growth hormone deficiency type II skos:exactMatch MEDGEN:124405 semapv:UnspecifiedMatching MONDO:0008250 isolated growth hormone deficiency type II skos:exactMatch OMIM:173100 isolated growth hormone deficiency, type 2 semapv:UnspecifiedMatching MONDO:0008250 isolated growth hormone deficiency type II skos:exactMatch Orphanet:231679 Isolated growth hormone deficiency type II semapv:UnspecifiedMatching MONDO:0008250 isolated growth hormone deficiency type II skos:exactMatch SCTID:237687003 semapv:UnspecifiedMatching MONDO:0008250 isolated growth hormone deficiency type II skos:exactMatch UMLS:C0271567 semapv:UnspecifiedMatching MONDO:0008250 isolated growth hormone deficiency type II skos:exactMatch mesh:C562704 semapv:UnspecifiedMatching MONDO:0008251 familial pityriasis rubra pilaris skos:exactMatch MEDGEN:443914 semapv:UnspecifiedMatching MONDO:0008251 familial pityriasis rubra pilaris skos:exactMatch OMIM:173200 pityriasis rubra pilaris semapv:UnspecifiedMatching MONDO:0008251 familial pityriasis rubra pilaris skos:exactMatch Orphanet:2897 Pityriasis rubra pilaris semapv:UnspecifiedMatching MONDO:0008251 familial pityriasis rubra pilaris skos:exactMatch UMLS:C2930842 semapv:UnspecifiedMatching MONDO:0008251 familial pityriasis rubra pilaris skos:exactMatch mesh:C531784 semapv:UnspecifiedMatching MONDO:0008252 platelet adenylate cyclase activity skos:exactMatch MEDGEN:358164 semapv:UnspecifiedMatching MONDO:0008252 platelet adenylate cyclase activity skos:exactMatch OMIM:173395 platelet adenylate cyclase activity semapv:UnspecifiedMatching MONDO:0008252 platelet adenylate cyclase activity skos:exactMatch UMLS:C1868264 semapv:UnspecifiedMatching MONDO:0008253 platelet aggregation, spontaneous skos:exactMatch MEDGEN:401406 semapv:UnspecifiedMatching MONDO:0008253 platelet aggregation, spontaneous skos:exactMatch OMIM:173400 platelet aggregation, spontaneous semapv:UnspecifiedMatching MONDO:0008253 platelet aggregation, spontaneous skos:exactMatch UMLS:C1868263 semapv:UnspecifiedMatching MONDO:0008253 platelet aggregation, spontaneous skos:exactMatch mesh:C566800 semapv:UnspecifiedMatching MONDO:0008254 platelet disorder, undefined skos:exactMatch MEDGEN:401405 semapv:UnspecifiedMatching MONDO:0008254 platelet disorder, undefined skos:exactMatch OMIM:173420 platelet disorder, undefined semapv:UnspecifiedMatching MONDO:0008254 platelet disorder, undefined skos:exactMatch UMLS:C1868258 semapv:UnspecifiedMatching MONDO:0008254 platelet disorder, undefined skos:exactMatch mesh:C566799 semapv:UnspecifiedMatching MONDO:0008255 platelet factor 3 deficiency skos:exactMatch MEDGEN:356931 semapv:UnspecifiedMatching MONDO:0008255 platelet factor 3 deficiency skos:exactMatch OMIM:173450 platelet factor 3 deficiency semapv:UnspecifiedMatching MONDO:0008255 platelet factor 3 deficiency skos:exactMatch UMLS:C1868256 semapv:UnspecifiedMatching MONDO:0008255 platelet factor 3 deficiency skos:exactMatch mesh:C566798 semapv:UnspecifiedMatching MONDO:0008256 platelet membrane fluidity skos:exactMatch MEDGEN:401393 semapv:UnspecifiedMatching MONDO:0008256 platelet membrane fluidity skos:exactMatch OMIM:173560 platelet membrane fluidity semapv:UnspecifiedMatching MONDO:0008256 platelet membrane fluidity skos:exactMatch UMLS:C1868201 semapv:UnspecifiedMatching MONDO:0008257 platelet responsiveness to adrenaline, depressed skos:exactMatch MEDGEN:358151 semapv:UnspecifiedMatching MONDO:0008257 platelet responsiveness to adrenaline, depressed skos:exactMatch OMIM:173580 platelet responsiveness to adrenaline, depressed semapv:UnspecifiedMatching MONDO:0008257 platelet responsiveness to adrenaline, depressed skos:exactMatch UMLS:C1868200 semapv:UnspecifiedMatching MONDO:0008258 platelet signal processing defect skos:exactMatch MEDGEN:357448 semapv:UnspecifiedMatching MONDO:0008258 platelet signal processing defect skos:exactMatch OMIM:173590 platelet signal processing defect semapv:UnspecifiedMatching MONDO:0008258 platelet signal processing defect skos:exactMatch UMLS:C1868199 semapv:UnspecifiedMatching MONDO:0008258 platelet signal processing defect skos:exactMatch mesh:C566796 semapv:UnspecifiedMatching MONDO:0008259 familial spontaneous pneumothorax skos:exactMatch DOID:0080218 primary spontaneous pneumothorax semapv:UnspecifiedMatching MONDO:0008259 familial spontaneous pneumothorax skos:exactMatch MEDGEN:357445 semapv:UnspecifiedMatching MONDO:0008259 familial spontaneous pneumothorax skos:exactMatch OMIM:173600 pneumothorax, primary spontaneous semapv:UnspecifiedMatching MONDO:0008259 familial spontaneous pneumothorax skos:exactMatch Orphanet:2903 Familial spontaneous pneumothorax semapv:UnspecifiedMatching MONDO:0008259 familial spontaneous pneumothorax skos:exactMatch SCTID:715219001 semapv:UnspecifiedMatching MONDO:0008259 familial spontaneous pneumothorax skos:exactMatch UMLS:C1868193 semapv:UnspecifiedMatching MONDO:0008259 familial spontaneous pneumothorax skos:exactMatch icd11.foundation:319022944 Familial spontaneous pneumothorax semapv:UnspecifiedMatching MONDO:0008259 familial spontaneous pneumothorax skos:exactMatch mesh:C566795 semapv:UnspecifiedMatching MONDO:0008260 Kindler syndrome skos:exactMatch DOID:0060472 Kindler syndrome semapv:UnspecifiedMatching MONDO:0008260 Kindler syndrome skos:exactMatch MEDGEN:96060 semapv:UnspecifiedMatching MONDO:0008260 Kindler syndrome skos:exactMatch OMIM:173650 kindler syndrome semapv:UnspecifiedMatching MONDO:0008260 Kindler syndrome skos:exactMatch Orphanet:2908 Kindler epidermolysis bullosa semapv:UnspecifiedMatching MONDO:0008260 Kindler syndrome skos:exactMatch SCTID:238836000 semapv:UnspecifiedMatching MONDO:0008260 Kindler syndrome skos:exactMatch UMLS:C0406557 semapv:UnspecifiedMatching MONDO:0008260 Kindler syndrome skos:exactMatch icd11.foundation:726317303 Kindler syndrome semapv:UnspecifiedMatching MONDO:0008260 Kindler syndrome skos:exactMatch mesh:C536321 semapv:UnspecifiedMatching MONDO:0008261 hereditary sclerosing poikiloderma, Weary type skos:exactMatch MEDGEN:91006 semapv:UnspecifiedMatching MONDO:0008261 hereditary sclerosing poikiloderma, Weary type skos:exactMatch OMIM:173700 poikiloderma, hereditary sclerosing semapv:UnspecifiedMatching MONDO:0008261 hereditary sclerosing poikiloderma, Weary type skos:exactMatch Orphanet:221039 Hereditary sclerosing poikiloderma, Weary type semapv:UnspecifiedMatching MONDO:0008261 hereditary sclerosing poikiloderma, Weary type skos:exactMatch UMLS:C0343094 semapv:UnspecifiedMatching MONDO:0008261 hereditary sclerosing poikiloderma, Weary type skos:exactMatch icd11.foundation:1538273632 Hereditary sclerosing poikiloderma, Weary type semapv:UnspecifiedMatching MONDO:0008261 hereditary sclerosing poikiloderma, Weary type skos:exactMatch mesh:C562824 semapv:UnspecifiedMatching MONDO:0008262 Poland syndrome skos:exactMatch DOID:12961 Poland syndrome semapv:UnspecifiedMatching MONDO:0008262 Poland syndrome skos:exactMatch MEDGEN:10822 semapv:UnspecifiedMatching MONDO:0008262 Poland syndrome skos:exactMatch NCIT:C85017 Poland Syndrome semapv:UnspecifiedMatching MONDO:0008262 Poland syndrome skos:exactMatch OMIM:173800 poland syndrome semapv:UnspecifiedMatching MONDO:0008262 Poland syndrome skos:exactMatch Orphanet:2911 Poland syndrome semapv:UnspecifiedMatching MONDO:0008262 Poland syndrome skos:exactMatch SCTID:38371006 semapv:UnspecifiedMatching MONDO:0008262 Poland syndrome skos:exactMatch UMLS:C0032357 semapv:UnspecifiedMatching MONDO:0008262 Poland syndrome skos:exactMatch icd11.foundation:1364451323 Poland syndrome semapv:UnspecifiedMatching MONDO:0008262 Poland syndrome skos:exactMatch mesh:D011045 semapv:UnspecifiedMatching MONDO:0008263 polycystic kidney disease 1 skos:exactMatch DOID:0110858 polycystic kidney disease 1 semapv:UnspecifiedMatching MONDO:0008263 polycystic kidney disease 1 skos:exactMatch MEDGEN:461191 semapv:UnspecifiedMatching MONDO:0008263 polycystic kidney disease 1 skos:exactMatch OMIM:173900 polycystic kidney disease 1 with or without polycystic liver disease semapv:UnspecifiedMatching MONDO:0008263 polycystic kidney disease 1 skos:exactMatch SCTID:253878003 semapv:UnspecifiedMatching MONDO:0008263 polycystic kidney disease 1 skos:exactMatch UMLS:C3149841 semapv:UnspecifiedMatching MONDO:0008263 polycystic kidney disease 1 skos:exactMatch mesh:C536326 semapv:UnspecifiedMatching MONDO:0008264 autosomal dominant medullary cystic kidney disease with or without hyperuricemia skos:exactMatch MEDGEN:1377523 semapv:UnspecifiedMatching MONDO:0008264 autosomal dominant medullary cystic kidney disease with or without hyperuricemia skos:exactMatch Orphanet:34149 Autosomal dominant tubulointerstitial kidney disease semapv:UnspecifiedMatching MONDO:0008264 autosomal dominant medullary cystic kidney disease with or without hyperuricemia skos:exactMatch SCTID:444699000 semapv:UnspecifiedMatching MONDO:0008264 autosomal dominant medullary cystic kidney disease with or without hyperuricemia skos:exactMatch UMLS:C4511620 semapv:UnspecifiedMatching MONDO:0008264 autosomal dominant medullary cystic kidney disease with or without hyperuricemia skos:exactMatch icd11.foundation:216863438 Autosomal dominant tubulointerstitial disease semapv:UnspecifiedMatching MONDO:0008264 autosomal dominant medullary cystic kidney disease with or without hyperuricemia skos:exactMatch mesh:C536137 semapv:UnspecifiedMatching MONDO:0008265 polycystic liver disease 1 skos:exactMatch DOID:0060980 polycystic liver disease 1 semapv:UnspecifiedMatching MONDO:0008265 polycystic liver disease 1 skos:exactMatch MEDGEN:165781 semapv:UnspecifiedMatching MONDO:0008265 polycystic liver disease 1 skos:exactMatch OMIM:174050 polycystic liver disease 1 with or without kidney cysts semapv:UnspecifiedMatching MONDO:0008265 polycystic liver disease 1 skos:exactMatch SCTID:716196007 semapv:UnspecifiedMatching MONDO:0008265 polycystic liver disease 1 skos:exactMatch UMLS:C0887850 semapv:UnspecifiedMatching MONDO:0008266 polydactyly, postaxial, type A1 skos:exactMatch MEDGEN:924305 semapv:UnspecifiedMatching MONDO:0008266 polydactyly, postaxial, type A1 skos:exactMatch OMIM:174200 polydactyly, postaxial, type a1 semapv:UnspecifiedMatching MONDO:0008266 polydactyly, postaxial, type A1 skos:exactMatch UMLS:C4282400 semapv:UnspecifiedMatching MONDO:0008267 orofaciodigital syndrome V skos:exactMatch DOID:0060375 orofaciodigital syndrome V semapv:UnspecifiedMatching MONDO:0008267 orofaciodigital syndrome V skos:exactMatch MEDGEN:358131 semapv:UnspecifiedMatching MONDO:0008267 orofaciodigital syndrome V skos:exactMatch OMIM:174300 orofaciodigital syndrome 5 semapv:UnspecifiedMatching MONDO:0008267 orofaciodigital syndrome V skos:exactMatch Orphanet:2919 Orofaciodigital syndrome type 5 semapv:UnspecifiedMatching MONDO:0008267 orofaciodigital syndrome V skos:exactMatch SCTID:722105002 semapv:UnspecifiedMatching MONDO:0008267 orofaciodigital syndrome V skos:exactMatch UMLS:C1868118 semapv:UnspecifiedMatching MONDO:0008267 orofaciodigital syndrome V skos:exactMatch mesh:C557819 semapv:UnspecifiedMatching MONDO:0008268 polydactyly-myopia syndrome skos:exactMatch MEDGEN:357424 semapv:UnspecifiedMatching MONDO:0008268 polydactyly-myopia syndrome skos:exactMatch OMIM:174310 polydactyly, postaxial, with progressive myopia semapv:UnspecifiedMatching MONDO:0008268 polydactyly-myopia syndrome skos:exactMatch Orphanet:2917 Polydactyly-myopia syndrome semapv:UnspecifiedMatching MONDO:0008268 polydactyly-myopia syndrome skos:exactMatch SCTID:82639001 semapv:UnspecifiedMatching MONDO:0008268 polydactyly-myopia syndrome skos:exactMatch UMLS:C1868117 semapv:UnspecifiedMatching MONDO:0008268 polydactyly-myopia syndrome skos:exactMatch mesh:C536331 semapv:UnspecifiedMatching MONDO:0008269 polydactyly of a biphalangeal thumb skos:exactMatch DOID:0060987 preaxial polydactyly I semapv:UnspecifiedMatching MONDO:0008269 polydactyly of a biphalangeal thumb skos:exactMatch MEDGEN:237235 semapv:UnspecifiedMatching MONDO:0008269 polydactyly of a biphalangeal thumb skos:exactMatch OMIM:174400 polydactyly, preaxial 1 semapv:UnspecifiedMatching MONDO:0008269 polydactyly of a biphalangeal thumb skos:exactMatch Orphanet:93339 Polydactyly of a biphalangeal thumb and/or hallux semapv:UnspecifiedMatching MONDO:0008269 polydactyly of a biphalangeal thumb skos:exactMatch SCTID:445216006 semapv:UnspecifiedMatching MONDO:0008269 polydactyly of a biphalangeal thumb skos:exactMatch UMLS:C1395852 semapv:UnspecifiedMatching MONDO:0008269 polydactyly of a biphalangeal thumb skos:exactMatch mesh:C536332 semapv:UnspecifiedMatching MONDO:0008270 polydactyly of a triphalangeal thumb skos:exactMatch DOID:0060986 preaxial polydactyly II semapv:UnspecifiedMatching MONDO:0008270 polydactyly of a triphalangeal thumb skos:exactMatch MEDGEN:357423 semapv:UnspecifiedMatching MONDO:0008270 polydactyly of a triphalangeal thumb skos:exactMatch OMIM:174500 polydactyly, preaxial 2 semapv:UnspecifiedMatching MONDO:0008270 polydactyly of a triphalangeal thumb skos:exactMatch Orphanet:93336 Polydactyly of a triphalangeal thumb semapv:UnspecifiedMatching MONDO:0008270 polydactyly of a triphalangeal thumb skos:exactMatch SCTID:715710001 semapv:UnspecifiedMatching MONDO:0008270 polydactyly of a triphalangeal thumb skos:exactMatch UMLS:C1868114 semapv:UnspecifiedMatching MONDO:0008270 polydactyly of a triphalangeal thumb skos:exactMatch icd11.foundation:728781925 Polydactyly of a triphalangeal thumb semapv:UnspecifiedMatching MONDO:0008271 polydactyly of an index finger skos:exactMatch MEDGEN:357422 semapv:UnspecifiedMatching MONDO:0008271 polydactyly of an index finger skos:exactMatch OMIM:174600 polydactyly, preaxial 3 semapv:UnspecifiedMatching MONDO:0008271 polydactyly of an index finger skos:exactMatch Orphanet:93337 Polydactyly of an index finger semapv:UnspecifiedMatching MONDO:0008271 polydactyly of an index finger skos:exactMatch SCTID:723446006 semapv:UnspecifiedMatching MONDO:0008271 polydactyly of an index finger skos:exactMatch UMLS:C1868113 semapv:UnspecifiedMatching MONDO:0008271 polydactyly of an index finger skos:exactMatch icd11.foundation:982050714 Polydactyly of an index finger semapv:UnspecifiedMatching MONDO:0008271 polydactyly of an index finger skos:exactMatch mesh:C566784 semapv:UnspecifiedMatching MONDO:0008272 polysyndactyly 4 skos:exactMatch DOID:0060985 preaxial polydactyly type IV semapv:UnspecifiedMatching MONDO:0008272 polysyndactyly 4 skos:exactMatch MEDGEN:357420 semapv:UnspecifiedMatching MONDO:0008272 polysyndactyly 4 skos:exactMatch OMIM:174700 polydactyly, preaxial 4 semapv:UnspecifiedMatching MONDO:0008272 polysyndactyly 4 skos:exactMatch Orphanet:93338 Polysyndactyly semapv:UnspecifiedMatching MONDO:0008272 polysyndactyly 4 skos:exactMatch UMLS:C1868111 semapv:UnspecifiedMatching MONDO:0008272 polysyndactyly 4 skos:exactMatch icd11.foundation:973656080 Polysyndactyly semapv:UnspecifiedMatching MONDO:0008273 actinic prurigo skos:exactMatch MEDGEN:98348 semapv:UnspecifiedMatching MONDO:0008273 actinic prurigo skos:exactMatch OMIM:174770 actinic prurigo semapv:UnspecifiedMatching MONDO:0008273 actinic prurigo skos:exactMatch Orphanet:330061 Actinic prurigo semapv:UnspecifiedMatching MONDO:0008273 actinic prurigo skos:exactMatch SCTID:201015007 semapv:UnspecifiedMatching MONDO:0008273 actinic prurigo skos:exactMatch UMLS:C0406217 semapv:UnspecifiedMatching MONDO:0008273 actinic prurigo skos:exactMatch icd11.foundation:1528164728 Actinic prurigo semapv:UnspecifiedMatching MONDO:0008273 actinic prurigo skos:exactMatch mesh:C566780 semapv:UnspecifiedMatching MONDO:0008274 polyostotic fibrous dysplasia skos:exactMatch ICD10CM:Q78.1 Polyostotic fibrous dysplasia semapv:UnspecifiedMatching MONDO:0008274 polyostotic fibrous dysplasia skos:exactMatch MEDGEN:5180 semapv:UnspecifiedMatching MONDO:0008274 polyostotic fibrous dysplasia skos:exactMatch NCIT:C34610 Polyostotic Fibrous Dysplasia semapv:UnspecifiedMatching MONDO:0008274 polyostotic fibrous dysplasia skos:exactMatch Orphanet:93276 Polyostotic fibrous dysplasia semapv:UnspecifiedMatching MONDO:0008274 polyostotic fibrous dysplasia skos:exactMatch SCTID:36517007 semapv:UnspecifiedMatching MONDO:0008274 polyostotic fibrous dysplasia skos:exactMatch UMLS:C0016065 semapv:UnspecifiedMatching MONDO:0008274 polyostotic fibrous dysplasia skos:exactMatch icd11.foundation:771587091 Polyostotic fibrous dysplasia semapv:UnspecifiedMatching MONDO:0008274 polyostotic fibrous dysplasia skos:exactMatch mesh:D005359 semapv:UnspecifiedMatching MONDO:0008275 familial expansile osteolysis skos:exactMatch DOID:0111542 familial expansile osteolysis semapv:UnspecifiedMatching MONDO:0008275 familial expansile osteolysis skos:exactMatch MEDGEN:96593 semapv:UnspecifiedMatching MONDO:0008275 familial expansile osteolysis skos:exactMatch OMIM:174810 familial expansile osteolysis semapv:UnspecifiedMatching MONDO:0008275 familial expansile osteolysis skos:exactMatch Orphanet:85195 Familial expansile osteolysis semapv:UnspecifiedMatching MONDO:0008275 familial expansile osteolysis skos:exactMatch SCTID:254153009 semapv:UnspecifiedMatching MONDO:0008275 familial expansile osteolysis skos:exactMatch UMLS:C0432292 semapv:UnspecifiedMatching MONDO:0008275 familial expansile osteolysis skos:exactMatch icd11.foundation:1161028858 Familial expansile osteolysis semapv:UnspecifiedMatching MONDO:0008275 familial expansile osteolysis skos:exactMatch mesh:C536335 semapv:UnspecifiedMatching MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli skos:exactMatch DOID:0050787 juvenile polyposis syndrome semapv:UnspecifiedMatching MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli skos:exactMatch MEDGEN:356898 semapv:UnspecifiedMatching MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli skos:exactMatch Orphanet:329971 Generalized juvenile polyposis/juvenile polyposis coli semapv:UnspecifiedMatching MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli skos:exactMatch UMLS:C1868081 semapv:UnspecifiedMatching MONDO:0008277 stomach polyp skos:exactMatch MEDGEN:68629 semapv:UnspecifiedMatching MONDO:0008277 stomach polyp skos:exactMatch NCIT:C3954 Gastric Polyp semapv:UnspecifiedMatching MONDO:0008277 stomach polyp skos:exactMatch SCTID:87252009 semapv:UnspecifiedMatching MONDO:0008277 stomach polyp skos:exactMatch UMLS:C0236048 semapv:UnspecifiedMatching MONDO:0008277 stomach polyp skos:exactMatch icd11.foundation:731629989 Gastric polyp semapv:UnspecifiedMatching MONDO:0008277 stomach polyp skos:exactMatch mesh:C562464 semapv:UnspecifiedMatching MONDO:0008278 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome skos:exactMatch DOID:0111543 juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome semapv:UnspecifiedMatching MONDO:0008278 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome skos:exactMatch MEDGEN:331400 semapv:UnspecifiedMatching MONDO:0008278 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome skos:exactMatch OMIM:175050 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome semapv:UnspecifiedMatching MONDO:0008278 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome skos:exactMatch UMLS:C1832942 semapv:UnspecifiedMatching MONDO:0008278 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome skos:exactMatch mesh:C563412 semapv:UnspecifiedMatching MONDO:0008280 Peutz-Jeghers syndrome skos:exactMatch DOID:3852 Peutz-Jeghers syndrome semapv:UnspecifiedMatching MONDO:0008280 Peutz-Jeghers syndrome skos:exactMatch MEDGEN:18404 semapv:UnspecifiedMatching MONDO:0008280 Peutz-Jeghers syndrome skos:exactMatch NCIT:C3324 Peutz-Jeghers Syndrome semapv:UnspecifiedMatching MONDO:0008280 Peutz-Jeghers syndrome skos:exactMatch OMIM:175200 peutz-jeghers syndrome semapv:UnspecifiedMatching MONDO:0008280 Peutz-Jeghers syndrome skos:exactMatch Orphanet:2869 Peutz-Jeghers syndrome semapv:UnspecifiedMatching MONDO:0008280 Peutz-Jeghers syndrome skos:exactMatch SCTID:54411001 semapv:UnspecifiedMatching MONDO:0008280 Peutz-Jeghers syndrome skos:exactMatch UMLS:C0031269 semapv:UnspecifiedMatching MONDO:0008280 Peutz-Jeghers syndrome skos:exactMatch icd11.foundation:969253189 Peutz-Jeghers syndrome semapv:UnspecifiedMatching MONDO:0008280 Peutz-Jeghers syndrome skos:exactMatch mesh:D010580 semapv:UnspecifiedMatching MONDO:0008281 polyposis, intestinal, scattered and discrete skos:exactMatch MEDGEN:358114 semapv:UnspecifiedMatching MONDO:0008281 polyposis, intestinal, scattered and discrete skos:exactMatch OMIM:175400 polyposis, intestinal, scattered and discrete semapv:UnspecifiedMatching MONDO:0008281 polyposis, intestinal, scattered and discrete skos:exactMatch UMLS:C1868006 semapv:UnspecifiedMatching MONDO:0008282 polyposis, intestinal, with multiple exostoses skos:exactMatch MEDGEN:401357 semapv:UnspecifiedMatching MONDO:0008282 polyposis, intestinal, with multiple exostoses skos:exactMatch OMIM:175450 polyposis, intestinal, with multiple exostoses semapv:UnspecifiedMatching MONDO:0008282 polyposis, intestinal, with multiple exostoses skos:exactMatch UMLS:C1868005 semapv:UnspecifiedMatching MONDO:0008282 polyposis, intestinal, with multiple exostoses skos:exactMatch mesh:C566776 semapv:UnspecifiedMatching MONDO:0008283 Cronkhite-Canada syndrome skos:exactMatch DOID:6225 Cronkhite-Canada syndrome semapv:UnspecifiedMatching MONDO:0008283 Cronkhite-Canada syndrome skos:exactMatch MEDGEN:129128 semapv:UnspecifiedMatching MONDO:0008283 Cronkhite-Canada syndrome skos:exactMatch NCIT:C7035 Gastric Cronkhite Canada Polyposis semapv:UnspecifiedMatching MONDO:0008283 Cronkhite-Canada syndrome skos:exactMatch OMIM:175500 polyposis, skin pigmentation, alopecia, and fingernail changes semapv:UnspecifiedMatching MONDO:0008283 Cronkhite-Canada syndrome skos:exactMatch Orphanet:2930 Cronkhite-Canada syndrome semapv:UnspecifiedMatching MONDO:0008283 Cronkhite-Canada syndrome skos:exactMatch SCTID:76304001 semapv:UnspecifiedMatching MONDO:0008283 Cronkhite-Canada syndrome skos:exactMatch UMLS:C0282207 semapv:UnspecifiedMatching MONDO:0008283 Cronkhite-Canada syndrome skos:exactMatch icd11.foundation:79007466 Cronkhite-Canada syndrome semapv:UnspecifiedMatching MONDO:0008283 Cronkhite-Canada syndrome skos:exactMatch mesh:D044483 semapv:UnspecifiedMatching MONDO:0008284 polyposis of gastric fundus without polyposis coli skos:exactMatch MEDGEN:357403 semapv:UnspecifiedMatching MONDO:0008284 polyposis of gastric fundus without polyposis coli skos:exactMatch UMLS:C1868001 semapv:UnspecifiedMatching MONDO:0008284 polyposis of gastric fundus without polyposis coli skos:exactMatch mesh:C566775 semapv:UnspecifiedMatching MONDO:0008285 polyps, multiple and recurrent inflammatory fibroid, gastrointestinal skos:exactMatch MEDGEN:1677803 semapv:UnspecifiedMatching MONDO:0008285 polyps, multiple and recurrent inflammatory fibroid, gastrointestinal skos:exactMatch OMIM:175510 gist-plus syndrome semapv:UnspecifiedMatching MONDO:0008285 polyps, multiple and recurrent inflammatory fibroid, gastrointestinal skos:exactMatch UMLS:C5193005 semapv:UnspecifiedMatching MONDO:0008285 polyps, multiple and recurrent inflammatory fibroid, gastrointestinal skos:exactMatch mesh:C566774 semapv:UnspecifiedMatching MONDO:0008286 crossed polysyndactyly skos:exactMatch MEDGEN:358112 semapv:UnspecifiedMatching MONDO:0008286 crossed polysyndactyly skos:exactMatch OMIM:175690 polysyndactyly, crossed semapv:UnspecifiedMatching MONDO:0008286 crossed polysyndactyly skos:exactMatch Orphanet:2935 Crossed polysyndactyly semapv:UnspecifiedMatching MONDO:0008286 crossed polysyndactyly skos:exactMatch UMLS:C1867999 semapv:UnspecifiedMatching MONDO:0008286 crossed polysyndactyly skos:exactMatch icd11.foundation:1884305247 Crossed polysyndactyly semapv:UnspecifiedMatching MONDO:0008286 crossed polysyndactyly skos:exactMatch mesh:C566773 semapv:UnspecifiedMatching MONDO:0008287 Greig cephalopolysyndactyly syndrome skos:exactMatch DOID:14761 Greig cephalopolysyndactyly syndrome semapv:UnspecifiedMatching MONDO:0008287 Greig cephalopolysyndactyly syndrome skos:exactMatch MEDGEN:120531 semapv:UnspecifiedMatching MONDO:0008287 Greig cephalopolysyndactyly syndrome skos:exactMatch NCIT:C35255 Greig Syndrome semapv:UnspecifiedMatching MONDO:0008287 Greig cephalopolysyndactyly syndrome skos:exactMatch OMIM:175700 greig cephalopolysyndactyly syndrome semapv:UnspecifiedMatching MONDO:0008287 Greig cephalopolysyndactyly syndrome skos:exactMatch Orphanet:380 Greig cephalopolysyndactyly syndrome semapv:UnspecifiedMatching MONDO:0008287 Greig cephalopolysyndactyly syndrome skos:exactMatch SCTID:32985001 semapv:UnspecifiedMatching MONDO:0008287 Greig cephalopolysyndactyly syndrome skos:exactMatch UMLS:C0265306 semapv:UnspecifiedMatching MONDO:0008287 Greig cephalopolysyndactyly syndrome skos:exactMatch icd11.foundation:606500237 Greig cephalopolysyndactyly syndrome semapv:UnspecifiedMatching MONDO:0008287 Greig cephalopolysyndactyly syndrome skos:exactMatch mesh:C537300 semapv:UnspecifiedMatching MONDO:0008288 popliteal cyst skos:exactMatch MEDGEN:10853 semapv:UnspecifiedMatching MONDO:0008288 popliteal cyst skos:exactMatch OMIM:175750 popliteal cyst semapv:UnspecifiedMatching MONDO:0008288 popliteal cyst skos:exactMatch SCTID:82675004 semapv:UnspecifiedMatching MONDO:0008288 popliteal cyst skos:exactMatch UMLS:C0032650 semapv:UnspecifiedMatching MONDO:0008288 popliteal cyst skos:exactMatch mesh:D011151 semapv:UnspecifiedMatching MONDO:0008289 brain small vessel disease 1 with or without ocular anomalies skos:exactMatch DOID:0090125 brain small vessel disease 1 semapv:UnspecifiedMatching MONDO:0008289 brain small vessel disease 1 with or without ocular anomalies skos:exactMatch MEDGEN:1663316 semapv:UnspecifiedMatching MONDO:0008289 brain small vessel disease 1 with or without ocular anomalies skos:exactMatch OMIM:175780 brain small vessel disease 1 with or without ocular anomalies semapv:UnspecifiedMatching MONDO:0008289 brain small vessel disease 1 with or without ocular anomalies skos:exactMatch Orphanet:36383 COL4A1/2-related familial vascular leukoencephalopathy semapv:UnspecifiedMatching MONDO:0008289 brain small vessel disease 1 with or without ocular anomalies skos:exactMatch UMLS:C4755307 semapv:UnspecifiedMatching MONDO:0008289 brain small vessel disease 1 with or without ocular anomalies skos:exactMatch mesh:C531642 semapv:UnspecifiedMatching MONDO:0008289 brain small vessel disease 1 with or without ocular anomalies skos:exactMatch mesh:C564372 semapv:UnspecifiedMatching MONDO:0008290 porokeratosis 1, Mibelli type skos:exactMatch OMIM:175800 porokeratosis 1, multiple types semapv:UnspecifiedMatching MONDO:0008291 porokeratosis plantaris palmaris et disseminata skos:exactMatch MEDGEN:56517 semapv:UnspecifiedMatching MONDO:0008291 porokeratosis plantaris palmaris et disseminata skos:exactMatch OMIM:175850 porokeratosis 2, palmar, plantar, and disseminated type semapv:UnspecifiedMatching MONDO:0008291 porokeratosis plantaris palmaris et disseminata skos:exactMatch Orphanet:737 Porokeratosis plantaris palmaris et disseminata semapv:UnspecifiedMatching MONDO:0008291 porokeratosis plantaris palmaris et disseminata skos:exactMatch SCTID:718218005 semapv:UnspecifiedMatching MONDO:0008291 porokeratosis plantaris palmaris et disseminata skos:exactMatch UMLS:C0162838 semapv:UnspecifiedMatching MONDO:0008292 punctate palmoplantar keratoderma type 2 skos:exactMatch DOID:0080213 punctate palmoplantar keratoderma type II semapv:UnspecifiedMatching MONDO:0008292 punctate palmoplantar keratoderma type 2 skos:exactMatch MEDGEN:356886 semapv:UnspecifiedMatching MONDO:0008292 punctate palmoplantar keratoderma type 2 skos:exactMatch OMIM:175860 palmoplantar keratoderma, punctate type 2 semapv:UnspecifiedMatching MONDO:0008292 punctate palmoplantar keratoderma type 2 skos:exactMatch Orphanet:79502 Punctate palmoplantar keratoderma type 2 semapv:UnspecifiedMatching MONDO:0008292 punctate palmoplantar keratoderma type 2 skos:exactMatch SCTID:765096001 semapv:UnspecifiedMatching MONDO:0008292 punctate palmoplantar keratoderma type 2 skos:exactMatch UMLS:C1867982 semapv:UnspecifiedMatching MONDO:0008293 porokeratosis 3, disseminated superficial actinic type skos:exactMatch MEDGEN:401352 semapv:UnspecifiedMatching MONDO:0008293 porokeratosis 3, disseminated superficial actinic type skos:exactMatch OMIM:175900 porokeratosis 3, multiple types semapv:UnspecifiedMatching MONDO:0008293 porokeratosis 3, disseminated superficial actinic type skos:exactMatch UMLS:C1867981 semapv:UnspecifiedMatching MONDO:0008293 porokeratosis 3, disseminated superficial actinic type skos:exactMatch mesh:C536339 semapv:UnspecifiedMatching MONDO:0008294 acute intermittent porphyria skos:exactMatch DOID:3890 acute intermittent porphyria semapv:UnspecifiedMatching MONDO:0008294 acute intermittent porphyria skos:exactMatch MEDGEN:56452 semapv:UnspecifiedMatching MONDO:0008294 acute intermittent porphyria skos:exactMatch NCIT:C84536 Acute Intermittent Porphyria semapv:UnspecifiedMatching MONDO:0008294 acute intermittent porphyria skos:exactMatch OMIM:176000 porphyria, acute intermittent semapv:UnspecifiedMatching MONDO:0008294 acute intermittent porphyria skos:exactMatch Orphanet:79276 Acute intermittent porphyria semapv:UnspecifiedMatching MONDO:0008294 acute intermittent porphyria skos:exactMatch SCTID:234422006 semapv:UnspecifiedMatching MONDO:0008294 acute intermittent porphyria skos:exactMatch UMLS:C0162565 semapv:UnspecifiedMatching MONDO:0008294 acute intermittent porphyria skos:exactMatch icd11.foundation:1565229118 Acute intermittent porphyria semapv:UnspecifiedMatching MONDO:0008294 acute intermittent porphyria skos:exactMatch mesh:D017118 semapv:UnspecifiedMatching MONDO:0008295 sporadic porphyria cutanea tarda skos:exactMatch MEDGEN:357391 semapv:UnspecifiedMatching MONDO:0008295 sporadic porphyria cutanea tarda skos:exactMatch OMIM:176090 porphyria cutanea tarda, type 1 semapv:UnspecifiedMatching MONDO:0008295 sporadic porphyria cutanea tarda skos:exactMatch Orphanet:443057 Sporadic porphyria cutanea tarda semapv:UnspecifiedMatching MONDO:0008295 sporadic porphyria cutanea tarda skos:exactMatch SCTID:402479002 semapv:UnspecifiedMatching MONDO:0008295 sporadic porphyria cutanea tarda skos:exactMatch UMLS:C1867968 semapv:UnspecifiedMatching MONDO:0008295 sporadic porphyria cutanea tarda skos:exactMatch icd11.foundation:1813031784 Sporadic porphyria cutanea tarda semapv:UnspecifiedMatching MONDO:0008295 sporadic porphyria cutanea tarda skos:exactMatch mesh:C566768 semapv:UnspecifiedMatching MONDO:0008296 familial porphyria cutanea tarda skos:exactMatch EFO:0009043 semapv:UnspecifiedMatching MONDO:0008296 familial porphyria cutanea tarda skos:exactMatch MEDGEN:75669 semapv:UnspecifiedMatching MONDO:0008296 familial porphyria cutanea tarda skos:exactMatch OMIM:176100 porphyria cutanea tarda semapv:UnspecifiedMatching MONDO:0008296 familial porphyria cutanea tarda skos:exactMatch Orphanet:443062 Familial porphyria cutanea tarda semapv:UnspecifiedMatching MONDO:0008296 familial porphyria cutanea tarda skos:exactMatch SCTID:59229005 semapv:UnspecifiedMatching MONDO:0008296 familial porphyria cutanea tarda skos:exactMatch UMLS:C0268323 semapv:UnspecifiedMatching MONDO:0008296 familial porphyria cutanea tarda skos:exactMatch icd11.foundation:1318287619 Familial porphyria cutanea tarda semapv:UnspecifiedMatching MONDO:0008297 variegate porphyria skos:exactMatch DOID:4346 variegate porphyria semapv:UnspecifiedMatching MONDO:0008297 variegate porphyria skos:exactMatch MEDGEN:58118 semapv:UnspecifiedMatching MONDO:0008297 variegate porphyria skos:exactMatch NCIT:C85219 Variegate Porphyria semapv:UnspecifiedMatching MONDO:0008297 variegate porphyria skos:exactMatch OMIM:176200 variegate porphyria semapv:UnspecifiedMatching MONDO:0008297 variegate porphyria skos:exactMatch Orphanet:79473 Variegate porphyria semapv:UnspecifiedMatching MONDO:0008297 variegate porphyria skos:exactMatch SCTID:58275005 semapv:UnspecifiedMatching MONDO:0008297 variegate porphyria skos:exactMatch UMLS:C0162532 semapv:UnspecifiedMatching MONDO:0008297 variegate porphyria skos:exactMatch icd11.foundation:1227474618 Variegate porphyria semapv:UnspecifiedMatching MONDO:0008297 variegate porphyria skos:exactMatch mesh:D046350 semapv:UnspecifiedMatching MONDO:0008298 postaxial tetramelic oligodactyly skos:exactMatch MEDGEN:357380 semapv:UnspecifiedMatching MONDO:0008298 postaxial tetramelic oligodactyly skos:exactMatch OMIM:176240 postaxial oligodactyly, tetramelic semapv:UnspecifiedMatching MONDO:0008298 postaxial tetramelic oligodactyly skos:exactMatch Orphanet:2730 Postaxial tetramelic oligodactyly semapv:UnspecifiedMatching MONDO:0008298 postaxial tetramelic oligodactyly skos:exactMatch UMLS:C1867924 semapv:UnspecifiedMatching MONDO:0008298 postaxial tetramelic oligodactyly skos:exactMatch mesh:C566767 semapv:UnspecifiedMatching MONDO:0008299 posterior column ataxia skos:exactMatch MEDGEN:357379 semapv:UnspecifiedMatching MONDO:0008299 posterior column ataxia skos:exactMatch OMIM:176250 posterior column ataxia semapv:UnspecifiedMatching MONDO:0008299 posterior column ataxia skos:exactMatch UMLS:C1867923 semapv:UnspecifiedMatching MONDO:0008299 posterior column ataxia skos:exactMatch mesh:C536342 semapv:UnspecifiedMatching MONDO:0008300 Prader-Willi syndrome skos:exactMatch DOID:11983 Prader-Willi syndrome semapv:UnspecifiedMatching MONDO:0008300 Prader-Willi syndrome skos:exactMatch ICD10CM:Q87.11 Prader-Willi syndrome semapv:UnspecifiedMatching MONDO:0008300 Prader-Willi syndrome skos:exactMatch MEDGEN:46057 semapv:UnspecifiedMatching MONDO:0008300 Prader-Willi syndrome skos:exactMatch NCIT:C75463 Prader-Willi Syndrome semapv:UnspecifiedMatching MONDO:0008300 Prader-Willi syndrome skos:exactMatch OMIM:176270 prader-willi syndrome semapv:UnspecifiedMatching MONDO:0008300 Prader-Willi syndrome skos:exactMatch Orphanet:739 Prader-Willi syndrome semapv:UnspecifiedMatching MONDO:0008300 Prader-Willi syndrome skos:exactMatch SCTID:89392001 semapv:UnspecifiedMatching MONDO:0008300 Prader-Willi syndrome skos:exactMatch UMLS:C0032897 semapv:UnspecifiedMatching MONDO:0008300 Prader-Willi syndrome skos:exactMatch icd11.foundation:393773440 Prader-Willi syndrome semapv:UnspecifiedMatching MONDO:0008300 Prader-Willi syndrome skos:exactMatch mesh:D011218 semapv:UnspecifiedMatching MONDO:0008301 Guttmacher syndrome skos:exactMatch DOID:0111544 Guttmacher syndrome semapv:UnspecifiedMatching MONDO:0008301 Guttmacher syndrome skos:exactMatch MEDGEN:401304 semapv:UnspecifiedMatching MONDO:0008301 Guttmacher syndrome skos:exactMatch OMIM:176305 preaxial deficiency, postaxial polydactyly, and hypospadias semapv:UnspecifiedMatching MONDO:0008301 Guttmacher syndrome skos:exactMatch Orphanet:2957 Guttmacher syndrome semapv:UnspecifiedMatching MONDO:0008301 Guttmacher syndrome skos:exactMatch SCTID:722452004 semapv:UnspecifiedMatching MONDO:0008301 Guttmacher syndrome skos:exactMatch UMLS:C1867801 semapv:UnspecifiedMatching MONDO:0008301 Guttmacher syndrome skos:exactMatch mesh:C538278 semapv:UnspecifiedMatching MONDO:0008302 central precocious puberty 1 skos:exactMatch DOID:0112310 central precocious puberty 1 semapv:UnspecifiedMatching MONDO:0008302 central precocious puberty 1 skos:exactMatch MEDGEN:812209 semapv:UnspecifiedMatching MONDO:0008302 central precocious puberty 1 skos:exactMatch OMIM:176400 precocious puberty, central, 1 semapv:UnspecifiedMatching MONDO:0008302 central precocious puberty 1 skos:exactMatch UMLS:C3805879 semapv:UnspecifiedMatching MONDO:0008303 familial male-limited precocious puberty skos:exactMatch DOID:0111545 familial male-limited precocious puberty semapv:UnspecifiedMatching MONDO:0008303 familial male-limited precocious puberty skos:exactMatch MEDGEN:87444 semapv:UnspecifiedMatching MONDO:0008303 familial male-limited precocious puberty skos:exactMatch OMIM:176410 precocious puberty, male-limited semapv:UnspecifiedMatching MONDO:0008303 familial male-limited precocious puberty skos:exactMatch Orphanet:3000 Familial peripheral male-limited precocious puberty semapv:UnspecifiedMatching MONDO:0008303 familial male-limited precocious puberty skos:exactMatch SCTID:237818003 semapv:UnspecifiedMatching MONDO:0008303 familial male-limited precocious puberty skos:exactMatch UMLS:C0342549 semapv:UnspecifiedMatching MONDO:0008304 premature chromatid separation trait skos:exactMatch MEDGEN:400517 semapv:UnspecifiedMatching MONDO:0008304 premature chromatid separation trait skos:exactMatch OMIM:176430 premature chromatid separation trait semapv:UnspecifiedMatching MONDO:0008304 premature chromatid separation trait skos:exactMatch UMLS:C1864389 semapv:UnspecifiedMatching MONDO:0008305 Currarino triad skos:exactMatch DOID:0111546 Currarino syndrome semapv:UnspecifiedMatching MONDO:0008305 Currarino triad skos:exactMatch MEDGEN:323460 semapv:UnspecifiedMatching MONDO:0008305 Currarino triad skos:exactMatch OMIM:176450 currarino syndrome semapv:UnspecifiedMatching MONDO:0008305 Currarino triad skos:exactMatch Orphanet:1552 Currarino syndrome semapv:UnspecifiedMatching MONDO:0008305 Currarino triad skos:exactMatch SCTID:413936007 semapv:UnspecifiedMatching MONDO:0008305 Currarino triad skos:exactMatch UMLS:C1531773 semapv:UnspecifiedMatching MONDO:0008305 Currarino triad skos:exactMatch icd11.foundation:1532133816 Currarino triad semapv:UnspecifiedMatching MONDO:0008305 Currarino triad skos:exactMatch mesh:C536221 semapv:UnspecifiedMatching MONDO:0008306 ABri amyloidosis skos:exactMatch DOID:0070029 ITM2B-related cerebral amyloid angiopathy 1 semapv:UnspecifiedMatching MONDO:0008306 ABri amyloidosis skos:exactMatch MEDGEN:1677186 semapv:UnspecifiedMatching MONDO:0008306 ABri amyloidosis skos:exactMatch OMIM:176500 cerebral amyloid angiopathy, itm2b-related, 1 semapv:UnspecifiedMatching MONDO:0008306 ABri amyloidosis skos:exactMatch Orphanet:97345 ABri amyloidosis semapv:UnspecifiedMatching MONDO:0008306 ABri amyloidosis skos:exactMatch UMLS:C5190835 semapv:UnspecifiedMatching MONDO:0008306 ABri amyloidosis skos:exactMatch icd11.foundation:1037669378 ABri amyloidosis semapv:UnspecifiedMatching MONDO:0008306 ABri amyloidosis skos:exactMatch icd11.foundation:1314005795 Familial dementia, British type semapv:UnspecifiedMatching MONDO:0008306 ABri amyloidosis skos:exactMatch mesh:C538208 semapv:UnspecifiedMatching MONDO:0008307 presenile dementia, Kraepelin type skos:exactMatch MEDGEN:356847 semapv:UnspecifiedMatching MONDO:0008307 presenile dementia, Kraepelin type skos:exactMatch OMIM:176600 presenile dementia, kraepelin type semapv:UnspecifiedMatching MONDO:0008307 presenile dementia, Kraepelin type skos:exactMatch UMLS:C1867772 semapv:UnspecifiedMatching MONDO:0008307 presenile dementia, Kraepelin type skos:exactMatch mesh:C535273 semapv:UnspecifiedMatching MONDO:0008308 priapism, familial idiopathic skos:exactMatch MEDGEN:356846 semapv:UnspecifiedMatching MONDO:0008308 priapism, familial idiopathic skos:exactMatch OMIM:176620 priapism, familial idiopathic semapv:UnspecifiedMatching MONDO:0008308 priapism, familial idiopathic skos:exactMatch UMLS:C1867771 semapv:UnspecifiedMatching MONDO:0008308 priapism, familial idiopathic skos:exactMatch mesh:C531791 semapv:UnspecifiedMatching MONDO:0008309 primary release disorder of platelets skos:exactMatch MEDGEN:356845 semapv:UnspecifiedMatching MONDO:0008309 primary release disorder of platelets skos:exactMatch OMIM:176630 primary release disorder of platelets semapv:UnspecifiedMatching MONDO:0008309 primary release disorder of platelets skos:exactMatch UMLS:C1867770 semapv:UnspecifiedMatching MONDO:0008309 primary release disorder of platelets skos:exactMatch mesh:C566759 semapv:UnspecifiedMatching MONDO:0008310 Hutchinson-Gilford progeria syndrome skos:exactMatch DOID:3911 progeria semapv:UnspecifiedMatching MONDO:0008310 Hutchinson-Gilford progeria syndrome skos:exactMatch MEDGEN:46123 semapv:UnspecifiedMatching MONDO:0008310 Hutchinson-Gilford progeria syndrome skos:exactMatch NCIT:C34951 Progeria semapv:UnspecifiedMatching MONDO:0008310 Hutchinson-Gilford progeria syndrome skos:exactMatch OMIM:176670 hutchinson-gilford progeria syndrome semapv:UnspecifiedMatching MONDO:0008310 Hutchinson-Gilford progeria syndrome skos:exactMatch Orphanet:740 Hutchinson-Gilford progeria syndrome semapv:UnspecifiedMatching MONDO:0008310 Hutchinson-Gilford progeria syndrome skos:exactMatch SCTID:238870004 semapv:UnspecifiedMatching MONDO:0008310 Hutchinson-Gilford progeria syndrome skos:exactMatch UMLS:C0033300 semapv:UnspecifiedMatching MONDO:0008311 progeria-short stature-pigmented nevi syndrome skos:exactMatch DOID:0061154 Mulvihill-Smith syndrome semapv:UnspecifiedMatching MONDO:0008311 progeria-short stature-pigmented nevi syndrome skos:exactMatch MEDGEN:224702 semapv:UnspecifiedMatching MONDO:0008311 progeria-short stature-pigmented nevi syndrome skos:exactMatch OMIM:176690 mulvihill-smith syndrome semapv:UnspecifiedMatching MONDO:0008311 progeria-short stature-pigmented nevi syndrome skos:exactMatch Orphanet:2959 Progeria-short stature-pigmented nevi syndrome semapv:UnspecifiedMatching MONDO:0008311 progeria-short stature-pigmented nevi syndrome skos:exactMatch SCTID:399947002 semapv:UnspecifiedMatching MONDO:0008311 progeria-short stature-pigmented nevi syndrome skos:exactMatch UMLS:C1261128 semapv:UnspecifiedMatching MONDO:0008311 progeria-short stature-pigmented nevi syndrome skos:exactMatch mesh:C536422 semapv:UnspecifiedMatching MONDO:0008312 autosomal dominant prognathism skos:exactMatch MEDGEN:98316 semapv:UnspecifiedMatching MONDO:0008312 autosomal dominant prognathism skos:exactMatch OMIM:176700 prognathism, mandibular semapv:UnspecifiedMatching MONDO:0008312 autosomal dominant prognathism skos:exactMatch Orphanet:2964 Autosomal dominant prognathism semapv:UnspecifiedMatching MONDO:0008312 autosomal dominant prognathism skos:exactMatch UMLS:C0399526 semapv:UnspecifiedMatching MONDO:0008312 autosomal dominant prognathism skos:exactMatch mesh:D008313 semapv:UnspecifiedMatching MONDO:0008313 pelvic organ prolapse, susceptibility to skos:exactMatch MEDGEN:442887 semapv:UnspecifiedMatching MONDO:0008313 pelvic organ prolapse, susceptibility to skos:exactMatch OMIM:176780 pelvic organ prolapse, susceptibility to semapv:UnspecifiedMatching MONDO:0008313 pelvic organ prolapse, susceptibility to skos:exactMatch UMLS:C2752090 semapv:UnspecifiedMatching MONDO:0008314 pronation-supination of the forearm, impairment of skos:exactMatch MEDGEN:356828 semapv:UnspecifiedMatching MONDO:0008314 pronation-supination of the forearm, impairment of skos:exactMatch OMIM:176800 pronation-supination of the forearm, impairment of semapv:UnspecifiedMatching MONDO:0008314 pronation-supination of the forearm, impairment of skos:exactMatch UMLS:C1867726 semapv:UnspecifiedMatching MONDO:0008314 pronation-supination of the forearm, impairment of skos:exactMatch mesh:C566757 semapv:UnspecifiedMatching MONDO:0008315 prostate cancer skos:exactMatch DOID:10283 prostate cancer semapv:UnspecifiedMatching MONDO:0008315 prostate cancer skos:exactMatch ICD10CM:C61 Malignant neoplasm of prostate semapv:UnspecifiedMatching MONDO:0008315 prostate cancer skos:exactMatch MEDGEN:138169 semapv:UnspecifiedMatching MONDO:0008315 prostate cancer skos:exactMatch NCIT:C7378 Malignant Prostate Neoplasm semapv:UnspecifiedMatching MONDO:0008315 prostate cancer skos:exactMatch SCTID:399068003 semapv:UnspecifiedMatching MONDO:0008315 prostate cancer skos:exactMatch UMLS:C0376358 semapv:UnspecifiedMatching MONDO:0008315 prostate cancer skos:exactMatch mesh:D011471 semapv:UnspecifiedMatching MONDO:0008316 thrombophilia due to protein C deficiency, autosomal dominant skos:exactMatch DOID:0111909 autosomal dominant thrombophilia due to protein C deficiency semapv:UnspecifiedMatching MONDO:0008316 thrombophilia due to protein C deficiency, autosomal dominant skos:exactMatch MEDGEN:436138 semapv:UnspecifiedMatching MONDO:0008316 thrombophilia due to protein C deficiency, autosomal dominant skos:exactMatch OMIM:176860 thrombophilia due to protein c deficiency, autosomal dominant semapv:UnspecifiedMatching MONDO:0008316 thrombophilia due to protein C deficiency, autosomal dominant skos:exactMatch UMLS:C2674321 semapv:UnspecifiedMatching MONDO:0008317 proteolytic capacity of plasma skos:exactMatch MEDGEN:401269 semapv:UnspecifiedMatching MONDO:0008317 proteolytic capacity of plasma skos:exactMatch OMIM:176900 proteolytic capacity of plasma semapv:UnspecifiedMatching MONDO:0008317 proteolytic capacity of plasma skos:exactMatch UMLS:C1867621 semapv:UnspecifiedMatching MONDO:0008318 Proteus syndrome skos:exactMatch DOID:13482 Proteus syndrome semapv:UnspecifiedMatching MONDO:0008318 Proteus syndrome skos:exactMatch MEDGEN:39008 semapv:UnspecifiedMatching MONDO:0008318 Proteus syndrome skos:exactMatch NCIT:C85032 Proteus Syndrome semapv:UnspecifiedMatching MONDO:0008318 Proteus syndrome skos:exactMatch OMIM:176920 proteus syndrome semapv:UnspecifiedMatching MONDO:0008318 Proteus syndrome skos:exactMatch Orphanet:744 Proteus syndrome semapv:UnspecifiedMatching MONDO:0008318 Proteus syndrome skos:exactMatch SCTID:23150001 semapv:UnspecifiedMatching MONDO:0008318 Proteus syndrome skos:exactMatch UMLS:C0085261 semapv:UnspecifiedMatching MONDO:0008318 Proteus syndrome skos:exactMatch icd11.foundation:760267333 Proteus syndrome semapv:UnspecifiedMatching MONDO:0008318 Proteus syndrome skos:exactMatch mesh:D016715 semapv:UnspecifiedMatching MONDO:0008319 protoporphyria, erythropoietic, 1 skos:exactMatch MEDGEN:1643471 semapv:UnspecifiedMatching MONDO:0008319 protoporphyria, erythropoietic, 1 skos:exactMatch NCIT:C84698 Erythropoietic Protoporphyria semapv:UnspecifiedMatching MONDO:0008319 protoporphyria, erythropoietic, 1 skos:exactMatch OMIM:177000 protoporphyria, erythropoietic, 1 semapv:UnspecifiedMatching MONDO:0008319 protoporphyria, erythropoietic, 1 skos:exactMatch UMLS:C4692546 semapv:UnspecifiedMatching MONDO:0008320 Protrusio acetabuli skos:exactMatch ICD10CM:M24.7 Protrusio acetabuli semapv:UnspecifiedMatching MONDO:0008320 Protrusio acetabuli skos:exactMatch MEDGEN:98369 semapv:UnspecifiedMatching MONDO:0008320 Protrusio acetabuli skos:exactMatch OMIM:177050 protrusio acetabuli semapv:UnspecifiedMatching MONDO:0008320 Protrusio acetabuli skos:exactMatch SCTID:59606006 semapv:UnspecifiedMatching MONDO:0008320 Protrusio acetabuli skos:exactMatch UMLS:C0409495 semapv:UnspecifiedMatching MONDO:0008321 pruritus, hereditary localized skos:exactMatch MEDGEN:356792 semapv:UnspecifiedMatching MONDO:0008321 pruritus, hereditary localized skos:exactMatch OMIM:177100 pruritus, hereditary localized semapv:UnspecifiedMatching MONDO:0008321 pruritus, hereditary localized skos:exactMatch UMLS:C1867499 semapv:UnspecifiedMatching MONDO:0008321 pruritus, hereditary localized skos:exactMatch mesh:C566754 semapv:UnspecifiedMatching MONDO:0008322 pseudoachondroplasia skos:exactMatch DOID:0080047 pseudoachondroplasia semapv:UnspecifiedMatching MONDO:0008322 pseudoachondroplasia skos:exactMatch MEDGEN:98378 semapv:UnspecifiedMatching MONDO:0008322 pseudoachondroplasia skos:exactMatch NCIT:C118635 Pseudoachondroplasia semapv:UnspecifiedMatching MONDO:0008322 pseudoachondroplasia skos:exactMatch OMIM:177170 pseudoachondroplasia semapv:UnspecifiedMatching MONDO:0008322 pseudoachondroplasia skos:exactMatch Orphanet:750 Pseudoachondroplasia semapv:UnspecifiedMatching MONDO:0008322 pseudoachondroplasia skos:exactMatch SCTID:22567005 semapv:UnspecifiedMatching MONDO:0008322 pseudoachondroplasia skos:exactMatch UMLS:C0410538 semapv:UnspecifiedMatching MONDO:0008322 pseudoachondroplasia skos:exactMatch icd11.foundation:1192649257 Pseudoachondroplasia semapv:UnspecifiedMatching MONDO:0008322 pseudoachondroplasia skos:exactMatch mesh:C535819 semapv:UnspecifiedMatching MONDO:0008323 Liddle syndrome skos:exactMatch DOID:0050477 Liddle syndrome semapv:UnspecifiedMatching MONDO:0008323 Liddle syndrome skos:exactMatch MEDGEN:67439 semapv:UnspecifiedMatching MONDO:0008323 Liddle syndrome skos:exactMatch NCIT:C84827 Liddle Syndrome semapv:UnspecifiedMatching MONDO:0008323 Liddle syndrome skos:exactMatch OMIMPS:177200 Liddle syndrome semapv:UnspecifiedMatching MONDO:0008323 Liddle syndrome skos:exactMatch Orphanet:526 Liddle syndrome semapv:UnspecifiedMatching MONDO:0008323 Liddle syndrome skos:exactMatch SCTID:707747007 semapv:UnspecifiedMatching MONDO:0008323 Liddle syndrome skos:exactMatch UMLS:C0221043 semapv:UnspecifiedMatching MONDO:0008323 Liddle syndrome skos:exactMatch mesh:D056929 semapv:UnspecifiedMatching MONDO:0008324 pseudoarthrogryposis skos:exactMatch MEDGEN:356790 semapv:UnspecifiedMatching MONDO:0008324 pseudoarthrogryposis skos:exactMatch OMIM:177300 pseudoarthrogryposis semapv:UnspecifiedMatching MONDO:0008324 pseudoarthrogryposis skos:exactMatch UMLS:C1867485 semapv:UnspecifiedMatching MONDO:0008324 pseudoarthrogryposis skos:exactMatch mesh:C566753 semapv:UnspecifiedMatching MONDO:0008325 Pseudoatrophoderma colli skos:exactMatch MEDGEN:96061 semapv:UnspecifiedMatching MONDO:0008325 Pseudoatrophoderma colli skos:exactMatch OMIM:177350 pseudoatrophoderma colli semapv:UnspecifiedMatching MONDO:0008325 Pseudoatrophoderma colli skos:exactMatch SCTID:238840009 semapv:UnspecifiedMatching MONDO:0008325 Pseudoatrophoderma colli skos:exactMatch UMLS:C0406561 semapv:UnspecifiedMatching MONDO:0008325 Pseudoatrophoderma colli skos:exactMatch mesh:C562909 semapv:UnspecifiedMatching MONDO:0008326 obsolete pseudocholinesterase, increase in plasma level of skos:exactMatch OMIM:177600 pseudocholinesterase, increase 1n plasma level of semapv:UnspecifiedMatching MONDO:0008327 exfoliation syndrome skos:exactMatch DOID:13641 exfoliation syndrome semapv:UnspecifiedMatching MONDO:0008327 exfoliation syndrome skos:exactMatch EFO:0004235 semapv:UnspecifiedMatching MONDO:0008327 exfoliation syndrome skos:exactMatch MEDGEN:60133 semapv:UnspecifiedMatching MONDO:0008327 exfoliation syndrome skos:exactMatch NCIT:C129025 Exfoliation Syndrome semapv:UnspecifiedMatching MONDO:0008327 exfoliation syndrome skos:exactMatch SCTID:111514006 semapv:UnspecifiedMatching MONDO:0008327 exfoliation syndrome skos:exactMatch UMLS:C0206368 semapv:UnspecifiedMatching MONDO:0008327 exfoliation syndrome skos:exactMatch mesh:D017889 semapv:UnspecifiedMatching MONDO:0008328 glaucoma 1, open angle, P skos:exactMatch MEDGEN:854866 semapv:UnspecifiedMatching MONDO:0008328 glaucoma 1, open angle, P skos:exactMatch OMIM:177700 glaucoma 1, open angle, p semapv:UnspecifiedMatching MONDO:0008328 glaucoma 1, open angle, P skos:exactMatch UMLS:C3888338 semapv:UnspecifiedMatching MONDO:0008328 glaucoma 1, open angle, P skos:exactMatch mesh:C566748 semapv:UnspecifiedMatching MONDO:0008329 autosomal dominant pseudohypoaldosteronism type 1 skos:exactMatch DOID:0060855 autosomal dominant pseudohypoaldosteronism type 1 semapv:UnspecifiedMatching MONDO:0008329 autosomal dominant pseudohypoaldosteronism type 1 skos:exactMatch MEDGEN:260623 semapv:UnspecifiedMatching MONDO:0008329 autosomal dominant pseudohypoaldosteronism type 1 skos:exactMatch NCIT:C126810 Hyponatremic Mineralocorticoid Resistance due to Mineralocorticoid Receptor Defect semapv:UnspecifiedMatching MONDO:0008329 autosomal dominant pseudohypoaldosteronism type 1 skos:exactMatch OMIM:177735 pseudohypoaldosteronism, type i, autosomal dominant semapv:UnspecifiedMatching MONDO:0008329 autosomal dominant pseudohypoaldosteronism type 1 skos:exactMatch Orphanet:171871 Renal pseudohypoaldosteronism type 1 semapv:UnspecifiedMatching MONDO:0008329 autosomal dominant pseudohypoaldosteronism type 1 skos:exactMatch UMLS:C1449842 semapv:UnspecifiedMatching MONDO:0008330 pseudomonilethrix skos:exactMatch MEDGEN:96595 semapv:UnspecifiedMatching MONDO:0008330 pseudomonilethrix skos:exactMatch OMIM:177750 pseudomonilethrix semapv:UnspecifiedMatching MONDO:0008330 pseudomonilethrix skos:exactMatch SCTID:254229006 semapv:UnspecifiedMatching MONDO:0008330 pseudomonilethrix skos:exactMatch UMLS:C0432346 semapv:UnspecifiedMatching MONDO:0008330 pseudomonilethrix skos:exactMatch icd11.foundation:207127044 Pseudomonilethrix semapv:UnspecifiedMatching MONDO:0008330 pseudomonilethrix skos:exactMatch mesh:C562988 semapv:UnspecifiedMatching MONDO:0008331 obsolete pseudopapilledema skos:exactMatch DOID:1392 pseudopapilledema semapv:UnspecifiedMatching MONDO:0008331 obsolete pseudopapilledema skos:exactMatch OMIM:177800 pseudopapilledema semapv:UnspecifiedMatching MONDO:0008331 obsolete pseudopapilledema skos:exactMatch Orphanet:519339 Pseudopapilledema semapv:UnspecifiedMatching MONDO:0008331 obsolete pseudopapilledema skos:exactMatch SCTID:57138009 semapv:UnspecifiedMatching MONDO:0008331 obsolete pseudopapilledema skos:exactMatch mesh:C562401 semapv:UnspecifiedMatching MONDO:0008332 platelet-type von Willebrand disease skos:exactMatch DOID:0111056 platelet-type bleeding disorder 3 semapv:UnspecifiedMatching MONDO:0008332 platelet-type von Willebrand disease skos:exactMatch MEDGEN:226914 semapv:UnspecifiedMatching MONDO:0008332 platelet-type von Willebrand disease skos:exactMatch NCIT:C131681 Platelet-Type von Willebrand Disease semapv:UnspecifiedMatching MONDO:0008332 platelet-type von Willebrand disease skos:exactMatch OMIM:177820 von willebrand disease, platelet-type semapv:UnspecifiedMatching MONDO:0008332 platelet-type von Willebrand disease skos:exactMatch Orphanet:52530 Pseudo-von Willebrand disease semapv:UnspecifiedMatching MONDO:0008332 platelet-type von Willebrand disease skos:exactMatch UMLS:C1280798 semapv:UnspecifiedMatching MONDO:0008332 platelet-type von Willebrand disease skos:exactMatch mesh:C536458 semapv:UnspecifiedMatching MONDO:0008333 pseudoxanthoma elasticum, forme fruste skos:exactMatch MEDGEN:357280 semapv:UnspecifiedMatching MONDO:0008333 pseudoxanthoma elasticum, forme fruste skos:exactMatch OMIM:177850 pseudoxanthoma elasticum, forme fruste semapv:UnspecifiedMatching MONDO:0008333 pseudoxanthoma elasticum, forme fruste skos:exactMatch UMLS:C1867450 semapv:UnspecifiedMatching MONDO:0008334 psoriasis 1, susceptibility to skos:exactMatch DOID:0111286 psoriasis 1 semapv:UnspecifiedMatching MONDO:0008334 psoriasis 1, susceptibility to skos:exactMatch MEDGEN:357279 semapv:UnspecifiedMatching MONDO:0008334 psoriasis 1, susceptibility to skos:exactMatch OMIM:177900 psoriasis 1, susceptibility to semapv:UnspecifiedMatching MONDO:0008334 psoriasis 1, susceptibility to skos:exactMatch UMLS:C1867449 semapv:UnspecifiedMatching MONDO:0008335 short stature-craniofacial anomalies-genital hypoplasia syndrome skos:exactMatch MEDGEN:357988 semapv:UnspecifiedMatching MONDO:0008335 short stature-craniofacial anomalies-genital hypoplasia syndrome skos:exactMatch OMIM:177980 pterygia, impaired intellectual development, and distinctive craniofacial features semapv:UnspecifiedMatching MONDO:0008335 short stature-craniofacial anomalies-genital hypoplasia syndrome skos:exactMatch Orphanet:2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome semapv:UnspecifiedMatching MONDO:0008335 short stature-craniofacial anomalies-genital hypoplasia syndrome skos:exactMatch SCTID:716090004 semapv:UnspecifiedMatching MONDO:0008335 short stature-craniofacial anomalies-genital hypoplasia syndrome skos:exactMatch UMLS:C1867443 semapv:UnspecifiedMatching MONDO:0008335 short stature-craniofacial anomalies-genital hypoplasia syndrome skos:exactMatch mesh:C535844 semapv:UnspecifiedMatching MONDO:0008336 pterygium colli, isolated skos:exactMatch MEDGEN:356780 semapv:UnspecifiedMatching MONDO:0008336 pterygium colli, isolated skos:exactMatch OMIM:177990 pterygium colli, isolated semapv:UnspecifiedMatching MONDO:0008336 pterygium colli, isolated skos:exactMatch UMLS:C1867442 semapv:UnspecifiedMatching MONDO:0008336 pterygium colli, isolated skos:exactMatch mesh:C566741 semapv:UnspecifiedMatching MONDO:0008337 familial pterygium of the conjunctiva skos:exactMatch MEDGEN:896736 semapv:UnspecifiedMatching MONDO:0008337 familial pterygium of the conjunctiva skos:exactMatch OMIM:178000 pterygium of conjunctiva and cornea semapv:UnspecifiedMatching MONDO:0008337 familial pterygium of the conjunctiva skos:exactMatch Orphanet:2989 Familial pterygium of the conjunctiva semapv:UnspecifiedMatching MONDO:0008337 familial pterygium of the conjunctiva skos:exactMatch UMLS:C4274782 semapv:UnspecifiedMatching MONDO:0008337 familial pterygium of the conjunctiva skos:exactMatch mesh:C566740 semapv:UnspecifiedMatching MONDO:0008338 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A skos:exactMatch DOID:0081321 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A semapv:UnspecifiedMatching MONDO:0008338 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A skos:exactMatch MEDGEN:401232 semapv:UnspecifiedMatching MONDO:0008338 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A skos:exactMatch OMIM:178110 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a semapv:UnspecifiedMatching MONDO:0008338 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A skos:exactMatch Orphanet:65743 Autosomal dominant multiple pterygium syndrome semapv:UnspecifiedMatching MONDO:0008338 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A skos:exactMatch UMLS:C1867440 semapv:UnspecifiedMatching MONDO:0008338 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A skos:exactMatch mesh:C566739 semapv:UnspecifiedMatching MONDO:0008339 antecubital pterygium syndrome skos:exactMatch MEDGEN:401231 semapv:UnspecifiedMatching MONDO:0008339 antecubital pterygium syndrome skos:exactMatch OMIM:178200 pterygium, antecubital semapv:UnspecifiedMatching MONDO:0008339 antecubital pterygium syndrome skos:exactMatch Orphanet:2987 Antecubital pterygium syndrome semapv:UnspecifiedMatching MONDO:0008339 antecubital pterygium syndrome skos:exactMatch UMLS:C1867439 semapv:UnspecifiedMatching MONDO:0008339 antecubital pterygium syndrome skos:exactMatch mesh:C566738 semapv:UnspecifiedMatching MONDO:0008340 congenital ptosis skos:exactMatch DOID:0060261 congenital ptosis semapv:UnspecifiedMatching MONDO:0008340 congenital ptosis skos:exactMatch MEDGEN:357987 semapv:UnspecifiedMatching MONDO:0008340 congenital ptosis skos:exactMatch NCIT:C27049 Congenital Eyelid Ptosis semapv:UnspecifiedMatching MONDO:0008340 congenital ptosis skos:exactMatch Orphanet:91411 Congenital ptosis semapv:UnspecifiedMatching MONDO:0008340 congenital ptosis skos:exactMatch SCTID:268163008 semapv:UnspecifiedMatching MONDO:0008340 congenital ptosis skos:exactMatch UMLS:C1867438 semapv:UnspecifiedMatching MONDO:0008340 congenital ptosis skos:exactMatch mesh:C566737 semapv:UnspecifiedMatching MONDO:0008341 ptosis-strabismus-ectopic pupils syndrome skos:exactMatch MEDGEN:356778 semapv:UnspecifiedMatching MONDO:0008341 ptosis-strabismus-ectopic pupils syndrome skos:exactMatch OMIM:178330 ptosis, strabismus, and ectopic pupils semapv:UnspecifiedMatching MONDO:0008341 ptosis-strabismus-ectopic pupils syndrome skos:exactMatch Orphanet:2999 Ptosis-strabismus-ectopic pupils syndrome semapv:UnspecifiedMatching MONDO:0008341 ptosis-strabismus-ectopic pupils syndrome skos:exactMatch UMLS:C1867437 semapv:UnspecifiedMatching MONDO:0008341 ptosis-strabismus-ectopic pupils syndrome skos:exactMatch mesh:C566736 semapv:UnspecifiedMatching MONDO:0008342 pubic bone dysplasia skos:exactMatch MEDGEN:356777 semapv:UnspecifiedMatching MONDO:0008342 pubic bone dysplasia skos:exactMatch OMIM:178350 pubic bone dysplasia semapv:UnspecifiedMatching MONDO:0008342 pubic bone dysplasia skos:exactMatch UMLS:C1867436 semapv:UnspecifiedMatching MONDO:0008342 pubic bone dysplasia skos:exactMatch mesh:C566735 semapv:UnspecifiedMatching MONDO:0008343 pulmonary atresia with ventricular septal defect skos:exactMatch MEDGEN:87492 semapv:UnspecifiedMatching MONDO:0008343 pulmonary atresia with ventricular septal defect skos:exactMatch NCIT:C99033 Pulmonary Valve Atresia with Ventricular Septal Defect semapv:UnspecifiedMatching MONDO:0008343 pulmonary atresia with ventricular septal defect skos:exactMatch OMIM:178370 pulmonary atresia with ventricular septal defect semapv:UnspecifiedMatching MONDO:0008343 pulmonary atresia with ventricular septal defect skos:exactMatch Orphanet:1207 Pulmonary atresia with ventricular septal defect semapv:UnspecifiedMatching MONDO:0008343 pulmonary atresia with ventricular septal defect skos:exactMatch SCTID:253591008 semapv:UnspecifiedMatching MONDO:0008343 pulmonary atresia with ventricular septal defect skos:exactMatch UMLS:C0344976 semapv:UnspecifiedMatching MONDO:0008343 pulmonary atresia with ventricular septal defect skos:exactMatch mesh:C562833 semapv:UnspecifiedMatching MONDO:0008344 pulmonary edema of mountaineers, susceptibility to skos:exactMatch MEDGEN:83314 semapv:UnspecifiedMatching MONDO:0008344 pulmonary edema of mountaineers, susceptibility to skos:exactMatch OMIM:178400 pulmonary edema of mountaineers, susceptibility to semapv:UnspecifiedMatching MONDO:0008344 pulmonary edema of mountaineers, susceptibility to skos:exactMatch SCTID:233954004 semapv:UnspecifiedMatching MONDO:0008344 pulmonary edema of mountaineers, susceptibility to skos:exactMatch UMLS:C0340552 semapv:UnspecifiedMatching MONDO:0008344 pulmonary edema of mountaineers, susceptibility to skos:exactMatch mesh:C535833 semapv:UnspecifiedMatching MONDO:0008346 pulmonary hemosiderosis skos:exactMatch DOID:10328 siderosis semapv:UnspecifiedMatching MONDO:0008346 pulmonary hemosiderosis skos:exactMatch DOID:12118 pulmonary hemosiderosis semapv:UnspecifiedMatching MONDO:0008346 pulmonary hemosiderosis skos:exactMatch ICD10CM:J84.03 Idiopathic pulmonary hemosiderosis semapv:UnspecifiedMatching MONDO:0008346 pulmonary hemosiderosis skos:exactMatch MEDGEN:9403 semapv:UnspecifiedMatching MONDO:0008346 pulmonary hemosiderosis skos:exactMatch OMIM:178550 pulmonary hemosiderosis semapv:UnspecifiedMatching MONDO:0008346 pulmonary hemosiderosis skos:exactMatch Orphanet:99931 Idiopathic pulmonary hemosiderosis semapv:UnspecifiedMatching MONDO:0008346 pulmonary hemosiderosis skos:exactMatch SCTID:40527005 semapv:UnspecifiedMatching MONDO:0008346 pulmonary hemosiderosis skos:exactMatch UMLS:C0020807 semapv:UnspecifiedMatching MONDO:0008346 pulmonary hemosiderosis skos:exactMatch icd11.foundation:1542272036 Idiopathic pulmonary haemosiderosis semapv:UnspecifiedMatching MONDO:0008346 pulmonary hemosiderosis skos:exactMatch mesh:D012806 semapv:UnspecifiedMatching MONDO:0008348 pulmonary nodular lymphoid hyperplasia skos:exactMatch MEDGEN:401226 semapv:UnspecifiedMatching MONDO:0008348 pulmonary nodular lymphoid hyperplasia skos:exactMatch OMIM:178610 pulmonary nodular lymphoid hyperplasia, familial semapv:UnspecifiedMatching MONDO:0008348 pulmonary nodular lymphoid hyperplasia skos:exactMatch Orphanet:60026 Pulmonary nodular lymphoid hyperplasia semapv:UnspecifiedMatching MONDO:0008348 pulmonary nodular lymphoid hyperplasia skos:exactMatch SCTID:718097008 semapv:UnspecifiedMatching MONDO:0008348 pulmonary nodular lymphoid hyperplasia skos:exactMatch UMLS:C1867419 semapv:UnspecifiedMatching MONDO:0008349 pulmonic stenosis, atrial septal defect, and unique electrocardiographic abnormalities skos:exactMatch MEDGEN:357274 semapv:UnspecifiedMatching MONDO:0008349 pulmonic stenosis, atrial septal defect, and unique electrocardiographic abnormalities skos:exactMatch OMIM:178650 pulmonic stenosis, atrial septal defect, and unique electrocardiographic abnormalities semapv:UnspecifiedMatching MONDO:0008349 pulmonic stenosis, atrial septal defect, and unique electrocardiographic abnormalities skos:exactMatch UMLS:C1867407 semapv:UnspecifiedMatching MONDO:0008349 pulmonic stenosis, atrial septal defect, and unique electrocardiographic abnormalities skos:exactMatch mesh:C566733 semapv:UnspecifiedMatching MONDO:0008350 pulmonic stenosis and deafness skos:exactMatch MEDGEN:357273 semapv:UnspecifiedMatching MONDO:0008350 pulmonic stenosis and deafness skos:exactMatch OMIM:178651 pulmonic stenosis and deafness semapv:UnspecifiedMatching MONDO:0008350 pulmonic stenosis and deafness skos:exactMatch UMLS:C1867406 semapv:UnspecifiedMatching MONDO:0008351 obsolete pupil, egg-shaped skos:exactMatch OMIM:178800 pupil, egg-shaped semapv:UnspecifiedMatching MONDO:0008351 obsolete pupil, egg-shaped skos:exactMatch mesh:C566731 semapv:UnspecifiedMatching MONDO:0008352 pupillary membrane, persistence of skos:exactMatch MEDGEN:124386 semapv:UnspecifiedMatching MONDO:0008352 pupillary membrane, persistence of skos:exactMatch OMIM:178900 pupillary membrane, persistence of semapv:UnspecifiedMatching MONDO:0008352 pupillary membrane, persistence of skos:exactMatch UMLS:C0271130 semapv:UnspecifiedMatching MONDO:0008352 pupillary membrane, persistence of skos:exactMatch mesh:C562700 semapv:UnspecifiedMatching MONDO:0008353 pruritic urticarial papules and plaques of pregnancy skos:exactMatch ICD10CM:O26.86 Pruritic urticarial papules and plaques of pregnancy (PUPPP) semapv:UnspecifiedMatching MONDO:0008353 pruritic urticarial papules and plaques of pregnancy skos:exactMatch MEDGEN:78710 semapv:UnspecifiedMatching MONDO:0008353 pruritic urticarial papules and plaques of pregnancy skos:exactMatch OMIM:178995 pruritic urticarial papules and plaques of pregnancy semapv:UnspecifiedMatching MONDO:0008353 pruritic urticarial papules and plaques of pregnancy skos:exactMatch Orphanet:64745 Pruritic urticarial papules and plaques of pregnancy semapv:UnspecifiedMatching MONDO:0008353 pruritic urticarial papules and plaques of pregnancy skos:exactMatch SCTID:88697005 semapv:UnspecifiedMatching MONDO:0008353 pruritic urticarial papules and plaques of pregnancy skos:exactMatch UMLS:C0269680 semapv:UnspecifiedMatching MONDO:0008353 pruritic urticarial papules and plaques of pregnancy skos:exactMatch icd11.foundation:968694549 Polymorphic eruption of pregnancy semapv:UnspecifiedMatching MONDO:0008353 pruritic urticarial papules and plaques of pregnancy skos:exactMatch mesh:C535817 semapv:UnspecifiedMatching MONDO:0008354 purpura simplex skos:exactMatch MEDGEN:124424 semapv:UnspecifiedMatching MONDO:0008354 purpura simplex skos:exactMatch OMIM:179000 purpura simplex semapv:UnspecifiedMatching MONDO:0008354 purpura simplex skos:exactMatch SCTID:277791008 semapv:UnspecifiedMatching MONDO:0008354 purpura simplex skos:exactMatch UMLS:C0272309 semapv:UnspecifiedMatching MONDO:0008354 purpura simplex skos:exactMatch mesh:C536249 semapv:UnspecifiedMatching MONDO:0008355 pyloric stenosis, infantile hypertrophic, 1 skos:exactMatch MEDGEN:357978 semapv:UnspecifiedMatching MONDO:0008355 pyloric stenosis, infantile hypertrophic, 1 skos:exactMatch OMIM:179010 pyloric stenosis, infantile hypertrophic, 1 semapv:UnspecifiedMatching MONDO:0008355 pyloric stenosis, infantile hypertrophic, 1 skos:exactMatch UMLS:C1867403 semapv:UnspecifiedMatching MONDO:0008356 radial heads, posterior dislocation of skos:exactMatch MEDGEN:357272 semapv:UnspecifiedMatching MONDO:0008356 radial heads, posterior dislocation of skos:exactMatch OMIM:179200 radial heads, posterior dislocation of semapv:UnspecifiedMatching MONDO:0008356 radial heads, posterior dislocation of skos:exactMatch UMLS:C1867398 semapv:UnspecifiedMatching MONDO:0008356 radial heads, posterior dislocation of skos:exactMatch mesh:C566728 semapv:UnspecifiedMatching MONDO:0008357 radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome skos:exactMatch MEDGEN:357271 semapv:UnspecifiedMatching MONDO:0008357 radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome skos:exactMatch OMIM:179250 radial hypoplasia, triphalangeal thumbs, hypospadias, and maxillary diastema semapv:UnspecifiedMatching MONDO:0008357 radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome skos:exactMatch Orphanet:2252 Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome semapv:UnspecifiedMatching MONDO:0008357 radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome skos:exactMatch SCTID:716092007 semapv:UnspecifiedMatching MONDO:0008357 radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome skos:exactMatch UMLS:C1867397 semapv:UnspecifiedMatching MONDO:0008357 radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome skos:exactMatch mesh:C536262 semapv:UnspecifiedMatching MONDO:0008358 radial ray hypoplasia-choanal atresia syndrome skos:exactMatch MEDGEN:419083 semapv:UnspecifiedMatching MONDO:0008358 radial ray hypoplasia-choanal atresia syndrome skos:exactMatch OMIM:179270 radial ray hypoplasia with choanal atresia semapv:UnspecifiedMatching MONDO:0008358 radial ray hypoplasia-choanal atresia syndrome skos:exactMatch Orphanet:3026 Radial ray hypoplasia-choanal atresia syndrome semapv:UnspecifiedMatching MONDO:0008358 radial ray hypoplasia-choanal atresia syndrome skos:exactMatch SCTID:232373003 semapv:UnspecifiedMatching MONDO:0008358 radial ray hypoplasia-choanal atresia syndrome skos:exactMatch UMLS:C2931464 semapv:UnspecifiedMatching MONDO:0008359 radio-renal syndrome skos:exactMatch MEDGEN:419723 semapv:UnspecifiedMatching MONDO:0008359 radio-renal syndrome skos:exactMatch OMIM:179280 radial-renal syndrome semapv:UnspecifiedMatching MONDO:0008359 radio-renal syndrome skos:exactMatch Orphanet:3015 Radio-renal syndrome semapv:UnspecifiedMatching MONDO:0008359 radio-renal syndrome skos:exactMatch SCTID:766765009 semapv:UnspecifiedMatching MONDO:0008359 radio-renal syndrome skos:exactMatch UMLS:C2931146 semapv:UnspecifiedMatching MONDO:0008359 radio-renal syndrome skos:exactMatch mesh:C536267 semapv:UnspecifiedMatching MONDO:0008361 radius, aplasia of, with cleft lip/palate skos:exactMatch MEDGEN:357270 semapv:UnspecifiedMatching MONDO:0008361 radius, aplasia of, with cleft lip/palate skos:exactMatch OMIM:179400 radius, aplasia of, with cleft lip/palate semapv:UnspecifiedMatching MONDO:0008361 radius, aplasia of, with cleft lip/palate skos:exactMatch UMLS:C1867395 semapv:UnspecifiedMatching MONDO:0008362 ragweed sensitivity skos:exactMatch MEDGEN:356768 semapv:UnspecifiedMatching MONDO:0008362 ragweed sensitivity skos:exactMatch OMIM:179450 ragweed sensitivity semapv:UnspecifiedMatching MONDO:0008362 ragweed sensitivity skos:exactMatch UMLS:C1867394 semapv:UnspecifiedMatching MONDO:0008362 ragweed sensitivity skos:exactMatch mesh:C566725 semapv:UnspecifiedMatching MONDO:0008363 raindrop hypopigmentation skos:exactMatch MEDGEN:356767 semapv:UnspecifiedMatching MONDO:0008363 raindrop hypopigmentation skos:exactMatch OMIM:179500 raindrop hypopigmentation semapv:UnspecifiedMatching MONDO:0008363 raindrop hypopigmentation skos:exactMatch UMLS:C1867393 semapv:UnspecifiedMatching MONDO:0008363 raindrop hypopigmentation skos:exactMatch mesh:C566724 semapv:UnspecifiedMatching MONDO:0008364 Raynaud disease skos:exactMatch DOID:10300 Raynaud disease semapv:UnspecifiedMatching MONDO:0008364 Raynaud disease skos:exactMatch EFO:1001145 semapv:UnspecifiedMatching MONDO:0008364 Raynaud disease skos:exactMatch ICD10CM:I73.0 Raynaud's syndrome semapv:UnspecifiedMatching MONDO:0008364 Raynaud disease skos:exactMatch MEDGEN:20473 semapv:UnspecifiedMatching MONDO:0008364 Raynaud disease skos:exactMatch NCIT:C116359 Secondary Raynaud Phenomenon semapv:UnspecifiedMatching MONDO:0008364 Raynaud disease skos:exactMatch OMIM:179600 raynaud disease semapv:UnspecifiedMatching MONDO:0008364 Raynaud disease skos:exactMatch SCTID:195295006 semapv:UnspecifiedMatching MONDO:0008364 Raynaud disease skos:exactMatch UMLS:C0034734 semapv:UnspecifiedMatching MONDO:0008364 Raynaud disease skos:exactMatch mesh:D011928 semapv:UnspecifiedMatching MONDO:0008365 recombinant 8 syndrome skos:exactMatch MEDGEN:167070 semapv:UnspecifiedMatching MONDO:0008365 recombinant 8 syndrome skos:exactMatch OMIM:179613 recombinant chromosome 8 syndrome semapv:UnspecifiedMatching MONDO:0008365 recombinant 8 syndrome skos:exactMatch Orphanet:96167 Recombinant 8 syndrome semapv:UnspecifiedMatching MONDO:0008365 recombinant 8 syndrome skos:exactMatch SCTID:718189004 semapv:UnspecifiedMatching MONDO:0008365 recombinant 8 syndrome skos:exactMatch UMLS:C0795822 semapv:UnspecifiedMatching MONDO:0008365 recombinant 8 syndrome skos:exactMatch mesh:C535296 semapv:UnspecifiedMatching MONDO:0008366 red cell permeability defect skos:exactMatch MEDGEN:357961 semapv:UnspecifiedMatching MONDO:0008366 red cell permeability defect skos:exactMatch OMIM:179650 red cell permeability defect semapv:UnspecifiedMatching MONDO:0008366 red cell permeability defect skos:exactMatch UMLS:C1867340 semapv:UnspecifiedMatching MONDO:0008367 red cell phospholipid defect with hemolysis skos:exactMatch MEDGEN:357960 semapv:UnspecifiedMatching MONDO:0008367 red cell phospholipid defect with hemolysis skos:exactMatch OMIM:179700 red cell phospholipid defect with hemolysis semapv:UnspecifiedMatching MONDO:0008367 red cell phospholipid defect with hemolysis skos:exactMatch UMLS:C1867339 semapv:UnspecifiedMatching MONDO:0008367 red cell phospholipid defect with hemolysis skos:exactMatch mesh:C535298 semapv:UnspecifiedMatching MONDO:0008368 autosomal dominant distal renal tubular acidosis skos:exactMatch OMIM:179800 renal tubular acidosis, distal, 1 semapv:UnspecifiedMatching MONDO:0008368 autosomal dominant distal renal tubular acidosis skos:exactMatch Orphanet:93608 Autosomal dominant distal renal tubular acidosis semapv:UnspecifiedMatching MONDO:0008369 proximal renal tubular acidosis skos:exactMatch DOID:0061165 proximal renal tubular acidosis semapv:UnspecifiedMatching MONDO:0008369 proximal renal tubular acidosis skos:exactMatch MEDGEN:82804 semapv:UnspecifiedMatching MONDO:0008369 proximal renal tubular acidosis skos:exactMatch OMIM:179830 renal tubular acidosis, proximal semapv:UnspecifiedMatching MONDO:0008369 proximal renal tubular acidosis skos:exactMatch Orphanet:47159 Proximal renal tubular acidosis semapv:UnspecifiedMatching MONDO:0008369 proximal renal tubular acidosis skos:exactMatch SCTID:24790002 semapv:UnspecifiedMatching MONDO:0008369 proximal renal tubular acidosis skos:exactMatch UMLS:C0268435 semapv:UnspecifiedMatching MONDO:0008371 Dowling-Degos disease skos:exactMatch DOID:0060256 Dowling-Degos disease semapv:UnspecifiedMatching MONDO:0008371 Dowling-Degos disease skos:exactMatch MEDGEN:811363 semapv:UnspecifiedMatching MONDO:0008371 Dowling-Degos disease skos:exactMatch Orphanet:79145 Dowling-Degos disease semapv:UnspecifiedMatching MONDO:0008371 Dowling-Degos disease skos:exactMatch UMLS:C3714534 semapv:UnspecifiedMatching MONDO:0008371 Dowling-Degos disease skos:exactMatch icd11.foundation:15123132 Dowling-Degos disease semapv:UnspecifiedMatching MONDO:0008371 Dowling-Degos disease skos:exactMatch mesh:C562924 semapv:UnspecifiedMatching MONDO:0008372 retinal aplasia skos:exactMatch MEDGEN:356752 semapv:UnspecifiedMatching MONDO:0008372 retinal aplasia skos:exactMatch OMIM:179900 retinal aplasia semapv:UnspecifiedMatching MONDO:0008372 retinal aplasia skos:exactMatch UMLS:C1867331 semapv:UnspecifiedMatching MONDO:0008372 retinal aplasia skos:exactMatch mesh:C566720 semapv:UnspecifiedMatching MONDO:0008373 retinal arterial tortuosity skos:exactMatch DOID:0111547 retinal arterial tortuosity semapv:UnspecifiedMatching MONDO:0008373 retinal arterial tortuosity skos:exactMatch MEDGEN:140840 semapv:UnspecifiedMatching MONDO:0008373 retinal arterial tortuosity skos:exactMatch OMIM:180000 retinal arteries, tortuosity of semapv:UnspecifiedMatching MONDO:0008373 retinal arterial tortuosity skos:exactMatch Orphanet:75326 Familial isolated retinal arteriolar tortuosity semapv:UnspecifiedMatching MONDO:0008373 retinal arterial tortuosity skos:exactMatch UMLS:C0423401 semapv:UnspecifiedMatching MONDO:0008374 retinal cone dystrophy type 1 skos:exactMatch DOID:0081024 retinal cone dystrophy 1 semapv:UnspecifiedMatching MONDO:0008374 retinal cone dystrophy type 1 skos:exactMatch MEDGEN:356747 semapv:UnspecifiedMatching MONDO:0008374 retinal cone dystrophy type 1 skos:exactMatch OMIM:180020 retinal cone dystrophy 1 semapv:UnspecifiedMatching MONDO:0008374 retinal cone dystrophy type 1 skos:exactMatch UMLS:C1867326 semapv:UnspecifiedMatching MONDO:0008374 retinal cone dystrophy type 1 skos:exactMatch mesh:C566719 semapv:UnspecifiedMatching MONDO:0008375 retinal detachment skos:exactMatch DOID:5327 retinal detachment semapv:UnspecifiedMatching MONDO:0008375 retinal detachment skos:exactMatch EFO:0005773 semapv:UnspecifiedMatching MONDO:0008375 retinal detachment skos:exactMatch MEDGEN:19759 semapv:UnspecifiedMatching MONDO:0008375 retinal detachment skos:exactMatch NCIT:C26874 Retinal Detachment semapv:UnspecifiedMatching MONDO:0008375 retinal detachment skos:exactMatch OMIM:180050 retinal detachment semapv:UnspecifiedMatching MONDO:0008375 retinal detachment skos:exactMatch SCTID:42059000 semapv:UnspecifiedMatching MONDO:0008375 retinal detachment skos:exactMatch UMLS:C0035305 semapv:UnspecifiedMatching MONDO:0008375 retinal detachment skos:exactMatch mesh:D012163 semapv:UnspecifiedMatching MONDO:0008376 retinal venous beading skos:exactMatch MEDGEN:422473 semapv:UnspecifiedMatching MONDO:0008376 retinal venous beading skos:exactMatch OMIM:180080 retinal venous beading semapv:UnspecifiedMatching MONDO:0008376 retinal venous beading skos:exactMatch UMLS:C2939143 semapv:UnspecifiedMatching MONDO:0008377 retinitis pigmentosa 1 skos:exactMatch DOID:0110390 retinitis pigmentosa 1 semapv:UnspecifiedMatching MONDO:0008377 retinitis pigmentosa 1 skos:exactMatch MEDGEN:67395 semapv:UnspecifiedMatching MONDO:0008377 retinitis pigmentosa 1 skos:exactMatch OMIM:180100 retinitis pigmentosa 1 semapv:UnspecifiedMatching MONDO:0008377 retinitis pigmentosa 1 skos:exactMatch UMLS:C0220701 semapv:UnspecifiedMatching MONDO:0008377 retinitis pigmentosa 1 skos:exactMatch mesh:C538365 semapv:UnspecifiedMatching MONDO:0008378 retinitis pigmentosa 9 skos:exactMatch DOID:0110387 retinitis pigmentosa 9 semapv:UnspecifiedMatching MONDO:0008378 retinitis pigmentosa 9 skos:exactMatch MEDGEN:356743 semapv:UnspecifiedMatching MONDO:0008378 retinitis pigmentosa 9 skos:exactMatch OMIM:180104 retinitis pigmentosa 9 semapv:UnspecifiedMatching MONDO:0008378 retinitis pigmentosa 9 skos:exactMatch UMLS:C1867300 semapv:UnspecifiedMatching MONDO:0008378 retinitis pigmentosa 9 skos:exactMatch mesh:C566716 semapv:UnspecifiedMatching MONDO:0008379 retinitis pigmentosa 10 skos:exactMatch DOID:0110388 retinitis pigmentosa 10 semapv:UnspecifiedMatching MONDO:0008379 retinitis pigmentosa 10 skos:exactMatch MEDGEN:357247 semapv:UnspecifiedMatching MONDO:0008379 retinitis pigmentosa 10 skos:exactMatch OMIM:180105 retinitis pigmentosa 10 semapv:UnspecifiedMatching MONDO:0008379 retinitis pigmentosa 10 skos:exactMatch UMLS:C1867299 semapv:UnspecifiedMatching MONDO:0008379 retinitis pigmentosa 10 skos:exactMatch mesh:C566715 semapv:UnspecifiedMatching MONDO:0008380 retinoblastoma skos:exactMatch DOID:768 retinoblastoma semapv:UnspecifiedMatching MONDO:0008380 retinoblastoma skos:exactMatch MEDGEN:20552 semapv:UnspecifiedMatching MONDO:0008380 retinoblastoma skos:exactMatch NCIT:C7541 Retinoblastoma semapv:UnspecifiedMatching MONDO:0008380 retinoblastoma skos:exactMatch Orphanet:790 Retinoblastoma semapv:UnspecifiedMatching MONDO:0008380 retinoblastoma skos:exactMatch SCTID:370967009 semapv:UnspecifiedMatching MONDO:0008380 retinoblastoma skos:exactMatch UMLS:C0035335 semapv:UnspecifiedMatching MONDO:0008380 retinoblastoma skos:exactMatch icd11.foundation:1855353671 Retinoblastoma semapv:UnspecifiedMatching MONDO:0008380 retinoblastoma skos:exactMatch mesh:D012175 semapv:UnspecifiedMatching MONDO:0008381 dominant pericentral pigmentary retinopathy skos:exactMatch DOID:0110420 dominant pericentral pigmentary retinopathy semapv:UnspecifiedMatching MONDO:0008381 dominant pericentral pigmentary retinopathy skos:exactMatch MEDGEN:357237 semapv:UnspecifiedMatching MONDO:0008381 dominant pericentral pigmentary retinopathy skos:exactMatch OMIM:180210 retinopathy, pericentral pigmentary, dominant semapv:UnspecifiedMatching MONDO:0008381 dominant pericentral pigmentary retinopathy skos:exactMatch UMLS:C1867261 semapv:UnspecifiedMatching MONDO:0008381 dominant pericentral pigmentary retinopathy skos:exactMatch mesh:C566713 semapv:UnspecifiedMatching MONDO:0008382 retinoschisis, autosomal dominant skos:exactMatch MEDGEN:357940 semapv:UnspecifiedMatching MONDO:0008382 retinoschisis, autosomal dominant skos:exactMatch OMIM:180270 retinoschisis, autosomal dominant semapv:UnspecifiedMatching MONDO:0008382 retinoschisis, autosomal dominant skos:exactMatch UMLS:C1867235 semapv:UnspecifiedMatching MONDO:0008382 retinoschisis, autosomal dominant skos:exactMatch mesh:C000598640 semapv:UnspecifiedMatching MONDO:0008383 rheumatoid arthritis skos:exactMatch DOID:7148 rheumatoid arthritis semapv:UnspecifiedMatching MONDO:0008383 rheumatoid arthritis skos:exactMatch EFO:0000685 semapv:UnspecifiedMatching MONDO:0008383 rheumatoid arthritis skos:exactMatch MEDGEN:2078 semapv:UnspecifiedMatching MONDO:0008383 rheumatoid arthritis skos:exactMatch NCIT:C2884 Rheumatoid Arthritis semapv:UnspecifiedMatching MONDO:0008383 rheumatoid arthritis skos:exactMatch OMIM:180300 rheumatoid arthritis semapv:UnspecifiedMatching MONDO:0008383 rheumatoid arthritis skos:exactMatch SCTID:69896004 semapv:UnspecifiedMatching MONDO:0008383 rheumatoid arthritis skos:exactMatch UMLS:C0003873 semapv:UnspecifiedMatching MONDO:0008383 rheumatoid arthritis skos:exactMatch icd11.foundation:576319925 Rheumatoid arthritis semapv:UnspecifiedMatching MONDO:0008383 rheumatoid arthritis skos:exactMatch mesh:D001172 semapv:UnspecifiedMatching MONDO:0008384 rheumatoid nodulosis skos:exactMatch MEDGEN:19781 semapv:UnspecifiedMatching MONDO:0008384 rheumatoid nodulosis skos:exactMatch OMIM:180350 rheumatoid nodulosis semapv:UnspecifiedMatching MONDO:0008384 rheumatoid nodulosis skos:exactMatch SCTID:402426007 semapv:UnspecifiedMatching MONDO:0008384 rheumatoid nodulosis skos:exactMatch SCTID:402427003 semapv:UnspecifiedMatching MONDO:0008384 rheumatoid nodulosis skos:exactMatch UMLS:C0035450 semapv:UnspecifiedMatching MONDO:0008384 rheumatoid nodulosis skos:exactMatch mesh:D012218 semapv:UnspecifiedMatching MONDO:0008385 rhiny skos:exactMatch MEDGEN:401188 semapv:UnspecifiedMatching MONDO:0008385 rhiny skos:exactMatch OMIM:180360 rhiny semapv:UnspecifiedMatching MONDO:0008385 rhiny skos:exactMatch UMLS:C1867222 semapv:UnspecifiedMatching MONDO:0008385 rhiny skos:exactMatch mesh:C566708 semapv:UnspecifiedMatching MONDO:0008386 Axenfeld-Rieger syndrome type 1 skos:exactMatch DOID:0110120 Axenfeld-Rieger syndrome type 1 semapv:UnspecifiedMatching MONDO:0008386 Axenfeld-Rieger syndrome type 1 skos:exactMatch MEDGEN:811487 semapv:UnspecifiedMatching MONDO:0008386 Axenfeld-Rieger syndrome type 1 skos:exactMatch NCIT:C75015 Rieger Syndrome Type 1 semapv:UnspecifiedMatching MONDO:0008386 Axenfeld-Rieger syndrome type 1 skos:exactMatch OMIM:180500 axenfeld-rieger syndrome, type 1 semapv:UnspecifiedMatching MONDO:0008386 Axenfeld-Rieger syndrome type 1 skos:exactMatch UMLS:C3714873 semapv:UnspecifiedMatching MONDO:0008387 ring dermoid of cornea skos:exactMatch DOID:0111548 ring dermoid of cornea semapv:UnspecifiedMatching MONDO:0008387 ring dermoid of cornea skos:exactMatch MEDGEN:357922 semapv:UnspecifiedMatching MONDO:0008387 ring dermoid of cornea skos:exactMatch OMIM:180550 ring dermoid of cornea semapv:UnspecifiedMatching MONDO:0008387 ring dermoid of cornea skos:exactMatch Orphanet:91481 Ring dermoid of cornea semapv:UnspecifiedMatching MONDO:0008387 ring dermoid of cornea skos:exactMatch SCTID:723499000 semapv:UnspecifiedMatching MONDO:0008387 ring dermoid of cornea skos:exactMatch UMLS:C1867155 semapv:UnspecifiedMatching MONDO:0008387 ring dermoid of cornea skos:exactMatch icd11.foundation:271430543 Ring dermoid of cornea semapv:UnspecifiedMatching MONDO:0008387 ring dermoid of cornea skos:exactMatch mesh:C535684 semapv:UnspecifiedMatching MONDO:0008388 ringed hair disease skos:exactMatch MEDGEN:75523 semapv:UnspecifiedMatching MONDO:0008388 ringed hair disease skos:exactMatch OMIM:180600 ringed hair semapv:UnspecifiedMatching MONDO:0008388 ringed hair disease skos:exactMatch Orphanet:169 Ringed hair disease semapv:UnspecifiedMatching MONDO:0008388 ringed hair disease skos:exactMatch SCTID:21926007 semapv:UnspecifiedMatching MONDO:0008388 ringed hair disease skos:exactMatch UMLS:C0263489 semapv:UnspecifiedMatching MONDO:0008388 ringed hair disease skos:exactMatch mesh:C537187 semapv:UnspecifiedMatching MONDO:0008389 autosomal dominant Robinow syndrome skos:exactMatch MEDGEN:1675001 semapv:UnspecifiedMatching MONDO:0008389 autosomal dominant Robinow syndrome skos:exactMatch Orphanet:3107 Autosomal dominant Robinow syndrome semapv:UnspecifiedMatching MONDO:0008389 autosomal dominant Robinow syndrome skos:exactMatch SCTID:76520005 semapv:UnspecifiedMatching MONDO:0008389 autosomal dominant Robinow syndrome skos:exactMatch UMLS:C5200540 semapv:UnspecifiedMatching MONDO:0008389 autosomal dominant Robinow syndrome skos:exactMatch icd11.foundation:807338758 Autosomal dominant Robinow syndrome semapv:UnspecifiedMatching MONDO:0008390 Rombo syndrome skos:exactMatch MEDGEN:356704 semapv:UnspecifiedMatching MONDO:0008390 Rombo syndrome skos:exactMatch OMIM:180730 rombo syndrome semapv:UnspecifiedMatching MONDO:0008390 Rombo syndrome skos:exactMatch Orphanet:3110 Rombo syndrome semapv:UnspecifiedMatching MONDO:0008390 Rombo syndrome skos:exactMatch SCTID:721904001 semapv:UnspecifiedMatching MONDO:0008390 Rombo syndrome skos:exactMatch UMLS:C1867147 semapv:UnspecifiedMatching MONDO:0008390 Rombo syndrome skos:exactMatch mesh:C535870 semapv:UnspecifiedMatching MONDO:0008391 Robinow-Sorauf syndrome skos:exactMatch MEDGEN:356703 semapv:UnspecifiedMatching MONDO:0008391 Robinow-Sorauf syndrome skos:exactMatch OMIM:180750 robinow-sorauf syndrome semapv:UnspecifiedMatching MONDO:0008391 Robinow-Sorauf syndrome skos:exactMatch UMLS:C1867146 semapv:UnspecifiedMatching MONDO:0008391 Robinow-Sorauf syndrome skos:exactMatch icd11.foundation:1272297510 Robinow-Sorauf syndrome semapv:UnspecifiedMatching MONDO:0008391 Robinow-Sorauf syndrome skos:exactMatch mesh:C537183 semapv:UnspecifiedMatching MONDO:0008392 Roussy-Levy syndrome skos:exactMatch MEDGEN:64430 semapv:UnspecifiedMatching MONDO:0008392 Roussy-Levy syndrome skos:exactMatch OMIM:180800 roussy-levy hereditary areflexic dystasia semapv:UnspecifiedMatching MONDO:0008392 Roussy-Levy syndrome skos:exactMatch Orphanet:3115 Roussy-Lévy syndrome semapv:UnspecifiedMatching MONDO:0008392 Roussy-Levy syndrome skos:exactMatch SCTID:45853006 semapv:UnspecifiedMatching MONDO:0008392 Roussy-Levy syndrome skos:exactMatch UMLS:C0205713 semapv:UnspecifiedMatching MONDO:0008392 Roussy-Levy syndrome skos:exactMatch icd11.foundation:1790389383 Roussy-Levy syndrome semapv:UnspecifiedMatching MONDO:0008393 Rubinstein-Taybi syndrome due to CREBBP mutations skos:exactMatch MEDGEN:1639327 semapv:UnspecifiedMatching MONDO:0008393 Rubinstein-Taybi syndrome due to CREBBP mutations skos:exactMatch NCIT:C153290 Rubinstein-Taybi Syndrome Type 1 semapv:UnspecifiedMatching MONDO:0008393 Rubinstein-Taybi syndrome due to CREBBP mutations skos:exactMatch OMIM:180849 rubinstein-taybi syndrome 1 semapv:UnspecifiedMatching MONDO:0008393 Rubinstein-Taybi syndrome due to CREBBP mutations skos:exactMatch Orphanet:353277 Rubinstein-Taybi syndrome due to CREBBP mutations semapv:UnspecifiedMatching MONDO:0008393 Rubinstein-Taybi syndrome due to CREBBP mutations skos:exactMatch UMLS:C4551859 semapv:UnspecifiedMatching MONDO:0008394 Silver-Russell syndrome skos:exactMatch DOID:14681 Silver-Russell syndrome semapv:UnspecifiedMatching MONDO:0008394 Silver-Russell syndrome skos:exactMatch MEDGEN:104492 semapv:UnspecifiedMatching MONDO:0008394 Silver-Russell syndrome skos:exactMatch NCIT:C85068 Russell-Silver Syndrome semapv:UnspecifiedMatching MONDO:0008394 Silver-Russell syndrome skos:exactMatch OMIMPS:180860 Silver-Russell syndrome semapv:UnspecifiedMatching MONDO:0008394 Silver-Russell syndrome skos:exactMatch Orphanet:813 Silver-Russell syndrome semapv:UnspecifiedMatching MONDO:0008394 Silver-Russell syndrome skos:exactMatch SCTID:15069006 semapv:UnspecifiedMatching MONDO:0008394 Silver-Russell syndrome skos:exactMatch UMLS:C0175693 semapv:UnspecifiedMatching MONDO:0008394 Silver-Russell syndrome skos:exactMatch icd11.foundation:735297495 Silver-Russell syndrome semapv:UnspecifiedMatching MONDO:0008394 Silver-Russell syndrome skos:exactMatch mesh:D056730 semapv:UnspecifiedMatching MONDO:0008395 Ruvalcaba syndrome skos:exactMatch MEDGEN:120520 semapv:UnspecifiedMatching MONDO:0008395 Ruvalcaba syndrome skos:exactMatch OMIM:180870 ruvalcaba syndrome semapv:UnspecifiedMatching MONDO:0008395 Ruvalcaba syndrome skos:exactMatch Orphanet:3121 Ruvalcaba syndrome semapv:UnspecifiedMatching MONDO:0008395 Ruvalcaba syndrome skos:exactMatch SCTID:3073006 semapv:UnspecifiedMatching MONDO:0008395 Ruvalcaba syndrome skos:exactMatch UMLS:C0265248 semapv:UnspecifiedMatching MONDO:0008395 Ruvalcaba syndrome skos:exactMatch mesh:C579395 semapv:UnspecifiedMatching MONDO:0008396 oculodental syndrome, Rutherfurd type skos:exactMatch MEDGEN:163222 semapv:UnspecifiedMatching MONDO:0008396 oculodental syndrome, Rutherfurd type skos:exactMatch OMIM:180900 rutherfurd syndrome semapv:UnspecifiedMatching MONDO:0008396 oculodental syndrome, Rutherfurd type skos:exactMatch Orphanet:2709 Oculodental syndrome, Rutherfurd type semapv:UnspecifiedMatching MONDO:0008396 oculodental syndrome, Rutherfurd type skos:exactMatch SCTID:699754008 semapv:UnspecifiedMatching MONDO:0008396 oculodental syndrome, Rutherfurd type skos:exactMatch UMLS:C0796140 semapv:UnspecifiedMatching MONDO:0008396 oculodental syndrome, Rutherfurd type skos:exactMatch icd11.foundation:183543626 Oculodental syndrome, Rutherfurd type semapv:UnspecifiedMatching MONDO:0008396 oculodental syndrome, Rutherfurd type skos:exactMatch mesh:C537732 semapv:UnspecifiedMatching MONDO:0008397 aplasia of lacrimal and salivary glands skos:exactMatch DOID:0111549 aplasia of lacrimal and salivary glands semapv:UnspecifiedMatching MONDO:0008397 aplasia of lacrimal and salivary glands skos:exactMatch MEDGEN:57641 semapv:UnspecifiedMatching MONDO:0008397 aplasia of lacrimal and salivary glands skos:exactMatch OMIM:180920 aplasia of lacrimal and salivary glands semapv:UnspecifiedMatching MONDO:0008397 aplasia of lacrimal and salivary glands skos:exactMatch Orphanet:86815 Aplasia of lacrimal and salivary glands semapv:UnspecifiedMatching MONDO:0008397 aplasia of lacrimal and salivary glands skos:exactMatch SCTID:715656004 semapv:UnspecifiedMatching MONDO:0008397 aplasia of lacrimal and salivary glands skos:exactMatch UMLS:C0158667 semapv:UnspecifiedMatching MONDO:0008397 aplasia of lacrimal and salivary glands skos:exactMatch icd11.foundation:539255304 Aplasia of lacrimal or salivary glands semapv:UnspecifiedMatching MONDO:0008398 salivary substance, Clostridium botulinum type skos:exactMatch MEDGEN:356679 semapv:UnspecifiedMatching MONDO:0008398 salivary substance, Clostridium botulinum type skos:exactMatch OMIM:180950 salivary substance, clostridium botulinum type semapv:UnspecifiedMatching MONDO:0008398 salivary substance, Clostridium botulinum type skos:exactMatch UMLS:C1867056 semapv:UnspecifiedMatching MONDO:0008399 sarcoidosis, susceptibility to, 1 skos:exactMatch MEDGEN:394568 semapv:UnspecifiedMatching MONDO:0008399 sarcoidosis, susceptibility to, 1 skos:exactMatch OMIM:181000 sarcoidosis, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0008399 sarcoidosis, susceptibility to, 1 skos:exactMatch UMLS:C2697310 semapv:UnspecifiedMatching MONDO:0008400 salivary duct calculi skos:exactMatch MEDGEN:19865 semapv:UnspecifiedMatching MONDO:0008400 salivary duct calculi skos:exactMatch OMIM:181010 salivary duct calculi semapv:UnspecifiedMatching MONDO:0008400 salivary duct calculi skos:exactMatch UMLS:C0036089 semapv:UnspecifiedMatching MONDO:0008400 salivary duct calculi skos:exactMatch mesh:D012465 semapv:UnspecifiedMatching MONDO:0008401 pleomorphic adenoma skos:exactMatch DOID:452 pleomorphic adenoma semapv:UnspecifiedMatching MONDO:0008401 pleomorphic adenoma skos:exactMatch MEDGEN:275400 semapv:UnspecifiedMatching MONDO:0008401 pleomorphic adenoma skos:exactMatch NCIT:C8602 Pleomorphic Adenoma semapv:UnspecifiedMatching MONDO:0008401 pleomorphic adenoma skos:exactMatch OMIM:181030 salivary gland adenoma, pleomorphic semapv:UnspecifiedMatching MONDO:0008401 pleomorphic adenoma skos:exactMatch SCTID:447888006 semapv:UnspecifiedMatching MONDO:0008401 pleomorphic adenoma skos:exactMatch UMLS:C1519176 semapv:UnspecifiedMatching MONDO:0008401 pleomorphic adenoma skos:exactMatch mesh:D008949 semapv:UnspecifiedMatching MONDO:0008402 cleft palate-large ears-small head syndrome skos:exactMatch MEDGEN:357895 semapv:UnspecifiedMatching MONDO:0008402 cleft palate-large ears-small head syndrome skos:exactMatch OMIM:181180 say syndrome semapv:UnspecifiedMatching MONDO:0008402 cleft palate-large ears-small head syndrome skos:exactMatch Orphanet:2013 Cleft palate-large ears-small head syndrome semapv:UnspecifiedMatching MONDO:0008402 cleft palate-large ears-small head syndrome skos:exactMatch SCTID:763130006 semapv:UnspecifiedMatching MONDO:0008402 cleft palate-large ears-small head syndrome skos:exactMatch UMLS:C1867023 semapv:UnspecifiedMatching MONDO:0008402 cleft palate-large ears-small head syndrome skos:exactMatch mesh:C536621 semapv:UnspecifiedMatching MONDO:0008403 scalp defects-postaxial polydactyly syndrome skos:exactMatch MEDGEN:401140 semapv:UnspecifiedMatching MONDO:0008403 scalp defects-postaxial polydactyly syndrome skos:exactMatch OMIM:181250 scalp defects and postaxial polydactyly semapv:UnspecifiedMatching MONDO:0008403 scalp defects-postaxial polydactyly syndrome skos:exactMatch Orphanet:1003 Scalp defects-postaxial polydactyly syndrome semapv:UnspecifiedMatching MONDO:0008403 scalp defects-postaxial polydactyly syndrome skos:exactMatch UMLS:C1867021 semapv:UnspecifiedMatching MONDO:0008403 scalp defects-postaxial polydactyly syndrome skos:exactMatch mesh:C536622 semapv:UnspecifiedMatching MONDO:0008404 scalp-ear-nipple syndrome skos:exactMatch DOID:0111550 scalp-ear-nipple syndrome semapv:UnspecifiedMatching MONDO:0008404 scalp-ear-nipple syndrome skos:exactMatch MEDGEN:357183 semapv:UnspecifiedMatching MONDO:0008404 scalp-ear-nipple syndrome skos:exactMatch OMIM:181270 scalp-ear-nipple syndrome semapv:UnspecifiedMatching MONDO:0008404 scalp-ear-nipple syndrome skos:exactMatch Orphanet:2036 Scalp-ear-nipple syndrome semapv:UnspecifiedMatching MONDO:0008404 scalp-ear-nipple syndrome skos:exactMatch SCTID:721888002 semapv:UnspecifiedMatching MONDO:0008404 scalp-ear-nipple syndrome skos:exactMatch UMLS:C1867020 semapv:UnspecifiedMatching MONDO:0008404 scalp-ear-nipple syndrome skos:exactMatch icd11.foundation:88843032 Scalp-ear-nipple syndrome semapv:UnspecifiedMatching MONDO:0008404 scalp-ear-nipple syndrome skos:exactMatch mesh:C536623 semapv:UnspecifiedMatching MONDO:0008405 obsolete scapula, contour of vertebral border of skos:exactMatch OMIM:181300 scapula, contour of vertebral border of semapv:UnspecifiedMatching MONDO:0008407 neurogenic scapuloperoneal syndrome, Kaeser type skos:exactMatch DOID:0111551 neurogenic scapuloperoneal syndrome Kaeser type semapv:UnspecifiedMatching MONDO:0008407 neurogenic scapuloperoneal syndrome, Kaeser type skos:exactMatch MEDGEN:356670 semapv:UnspecifiedMatching MONDO:0008407 neurogenic scapuloperoneal syndrome, Kaeser type skos:exactMatch OMIM:181400 scapuloperoneal syndrome, neurogenic, kaeser type semapv:UnspecifiedMatching MONDO:0008407 neurogenic scapuloperoneal syndrome, Kaeser type skos:exactMatch Orphanet:85146 Neurogenic scapuloperoneal syndrome, Kaeser type semapv:UnspecifiedMatching MONDO:0008407 neurogenic scapuloperoneal syndrome, Kaeser type skos:exactMatch UMLS:C1867005 semapv:UnspecifiedMatching MONDO:0008407 neurogenic scapuloperoneal syndrome, Kaeser type skos:exactMatch mesh:C566695 semapv:UnspecifiedMatching MONDO:0008408 scapuloperoneal spinal muscular atrophy, autosomal dominant skos:exactMatch DOID:0111552 scapuloperoneal spinal muscular atrophy semapv:UnspecifiedMatching MONDO:0008408 scapuloperoneal spinal muscular atrophy, autosomal dominant skos:exactMatch EFO:1001992 semapv:UnspecifiedMatching MONDO:0008408 scapuloperoneal spinal muscular atrophy, autosomal dominant skos:exactMatch MEDGEN:148283 semapv:UnspecifiedMatching MONDO:0008408 scapuloperoneal spinal muscular atrophy, autosomal dominant skos:exactMatch OMIM:181405 scapuloperoneal spinal muscular atrophy semapv:UnspecifiedMatching MONDO:0008408 scapuloperoneal spinal muscular atrophy, autosomal dominant skos:exactMatch Orphanet:431255 Scapuloperoneal spinal muscular atrophy semapv:UnspecifiedMatching MONDO:0008408 scapuloperoneal spinal muscular atrophy, autosomal dominant skos:exactMatch SCTID:230248006 semapv:UnspecifiedMatching MONDO:0008408 scapuloperoneal spinal muscular atrophy, autosomal dominant skos:exactMatch UMLS:C0751335 semapv:UnspecifiedMatching MONDO:0008409 congenital myopathy 7A, myosin storage, autosomal dominant skos:exactMatch DOID:0111269 autosomal dominant hyaline body myopathy semapv:UnspecifiedMatching MONDO:0008409 congenital myopathy 7A, myosin storage, autosomal dominant skos:exactMatch MEDGEN:374868 semapv:UnspecifiedMatching MONDO:0008409 congenital myopathy 7A, myosin storage, autosomal dominant skos:exactMatch OMIM:608358 congenital myopathy 7a, myosin storage, autosomal dominant semapv:UnspecifiedMatching MONDO:0008409 congenital myopathy 7A, myosin storage, autosomal dominant skos:exactMatch Orphanet:636965 Autosomal dominant myosin storage myopathy semapv:UnspecifiedMatching MONDO:0008409 congenital myopathy 7A, myosin storage, autosomal dominant skos:exactMatch UMLS:C1842160 semapv:UnspecifiedMatching MONDO:0008409 congenital myopathy 7A, myosin storage, autosomal dominant skos:exactMatch mesh:C564253 semapv:UnspecifiedMatching MONDO:0008410 Scheuermann disease skos:exactMatch DOID:13300 Scheuermann's disease semapv:UnspecifiedMatching MONDO:0008410 Scheuermann disease skos:exactMatch MEDGEN:19885 semapv:UnspecifiedMatching MONDO:0008410 Scheuermann disease skos:exactMatch NCIT:C34999 Juvenile Osteochondrosis of Spine semapv:UnspecifiedMatching MONDO:0008410 Scheuermann disease skos:exactMatch OMIM:181440 scheuermann disease semapv:UnspecifiedMatching MONDO:0008410 Scheuermann disease skos:exactMatch SCTID:53406005 semapv:UnspecifiedMatching MONDO:0008410 Scheuermann disease skos:exactMatch UMLS:C0036310 semapv:UnspecifiedMatching MONDO:0008410 Scheuermann disease skos:exactMatch mesh:D012544 semapv:UnspecifiedMatching MONDO:0008411 ulnar-mammary syndrome skos:exactMatch DOID:0060614 ulnar-mammary syndrome semapv:UnspecifiedMatching MONDO:0008411 ulnar-mammary syndrome skos:exactMatch MEDGEN:357886 semapv:UnspecifiedMatching MONDO:0008411 ulnar-mammary syndrome skos:exactMatch OMIM:181450 ulnar-mammary syndrome semapv:UnspecifiedMatching MONDO:0008411 ulnar-mammary syndrome skos:exactMatch Orphanet:3138 Ulnar-mammary syndrome semapv:UnspecifiedMatching MONDO:0008411 ulnar-mammary syndrome skos:exactMatch SCTID:700211007 semapv:UnspecifiedMatching MONDO:0008411 ulnar-mammary syndrome skos:exactMatch UMLS:C1866994 semapv:UnspecifiedMatching MONDO:0008411 ulnar-mammary syndrome skos:exactMatch icd11.foundation:1508836700 Ulnar-mammary syndrome semapv:UnspecifiedMatching MONDO:0008411 ulnar-mammary syndrome skos:exactMatch mesh:C536937 semapv:UnspecifiedMatching MONDO:0008412 intestinal schistosomiasis skos:exactMatch DOID:0050597 intestinal schistosomiasis semapv:UnspecifiedMatching MONDO:0008412 intestinal schistosomiasis skos:exactMatch MEDGEN:116602 semapv:UnspecifiedMatching MONDO:0008412 intestinal schistosomiasis skos:exactMatch SCTID:240796008 semapv:UnspecifiedMatching MONDO:0008412 intestinal schistosomiasis skos:exactMatch UMLS:C0242497 semapv:UnspecifiedMatching MONDO:0008414 schizophrenia 1 skos:exactMatch DOID:0070077 schizophrenia 1 semapv:UnspecifiedMatching MONDO:0008414 schizophrenia 1 skos:exactMatch MEDGEN:65084 semapv:UnspecifiedMatching MONDO:0008414 schizophrenia 1 skos:exactMatch OMIM:181510 schizophrenia 1 semapv:UnspecifiedMatching MONDO:0008414 schizophrenia 1 skos:exactMatch UMLS:C0220702 semapv:UnspecifiedMatching MONDO:0008415 obsolete Scholte syndrome skos:exactMatch OMIM:181515 semapv:UnspecifiedMatching MONDO:0008416 palmoplantar keratoderma-sclerodactyly syndrome skos:exactMatch MEDGEN:98360 semapv:UnspecifiedMatching MONDO:0008416 palmoplantar keratoderma-sclerodactyly syndrome skos:exactMatch OMIM:181600 huriez syndrome semapv:UnspecifiedMatching MONDO:0008416 palmoplantar keratoderma-sclerodactyly syndrome skos:exactMatch Orphanet:384 Huriez syndrome semapv:UnspecifiedMatching MONDO:0008416 palmoplantar keratoderma-sclerodactyly syndrome skos:exactMatch SCTID:239076000 semapv:UnspecifiedMatching MONDO:0008416 palmoplantar keratoderma-sclerodactyly syndrome skos:exactMatch UMLS:C0406767 semapv:UnspecifiedMatching MONDO:0008416 palmoplantar keratoderma-sclerodactyly syndrome skos:exactMatch mesh:C537526 semapv:UnspecifiedMatching MONDO:0008417 sclerocornea, autosomal dominant skos:exactMatch MEDGEN:356662 semapv:UnspecifiedMatching MONDO:0008417 sclerocornea, autosomal dominant skos:exactMatch OMIM:181700 sclerocornea, autosomal dominant semapv:UnspecifiedMatching MONDO:0008417 sclerocornea, autosomal dominant skos:exactMatch UMLS:C1866984 semapv:UnspecifiedMatching MONDO:0008417 sclerocornea, autosomal dominant skos:exactMatch mesh:C566692 semapv:UnspecifiedMatching MONDO:0008418 scleroderma, familial progressive skos:exactMatch MEDGEN:356661 semapv:UnspecifiedMatching MONDO:0008418 scleroderma, familial progressive skos:exactMatch OMIM:181750 scleroderma, familial progressive semapv:UnspecifiedMatching MONDO:0008418 scleroderma, familial progressive skos:exactMatch UMLS:C1866983 semapv:UnspecifiedMatching MONDO:0008419 scoliosis, isolated, susceptibility to, 1 skos:exactMatch MEDGEN:438003 semapv:UnspecifiedMatching MONDO:0008419 scoliosis, isolated, susceptibility to, 1 skos:exactMatch OMIM:181800 scoliosis, isolated, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0008419 scoliosis, isolated, susceptibility to, 1 skos:exactMatch UMLS:C2700406 semapv:UnspecifiedMatching MONDO:0008420 seborrheic keratosis skos:exactMatch DOID:6498 seborrheic keratosis semapv:UnspecifiedMatching MONDO:0008420 seborrheic keratosis skos:exactMatch EFO:0005584 semapv:UnspecifiedMatching MONDO:0008420 seborrheic keratosis skos:exactMatch ICD10CM:L82 Seborrheic keratosis semapv:UnspecifiedMatching MONDO:0008420 seborrheic keratosis skos:exactMatch MEDGEN:5957 semapv:UnspecifiedMatching MONDO:0008420 seborrheic keratosis skos:exactMatch NCIT:C9006 Seborrheic Keratosis semapv:UnspecifiedMatching MONDO:0008420 seborrheic keratosis skos:exactMatch OMIM:182000 keratosis, seborrheic semapv:UnspecifiedMatching MONDO:0008420 seborrheic keratosis skos:exactMatch UMLS:C0022603 semapv:UnspecifiedMatching MONDO:0008420 seborrheic keratosis skos:exactMatch mesh:D017492 semapv:UnspecifiedMatching MONDO:0008421 flat face-microstomia-ear anomaly syndrome skos:exactMatch MEDGEN:356655 semapv:UnspecifiedMatching MONDO:0008421 flat face-microstomia-ear anomaly syndrome skos:exactMatch OMIM:182150 simosa craniofacial syndrome semapv:UnspecifiedMatching MONDO:0008421 flat face-microstomia-ear anomaly syndrome skos:exactMatch Orphanet:1968 Flat face-microstomia-ear anomaly syndrome semapv:UnspecifiedMatching MONDO:0008421 flat face-microstomia-ear anomaly syndrome skos:exactMatch UMLS:C1866962 semapv:UnspecifiedMatching MONDO:0008421 flat face-microstomia-ear anomaly syndrome skos:exactMatch mesh:C537339 semapv:UnspecifiedMatching MONDO:0008422 autosomal dominant sideroblastic anemia skos:exactMatch DOID:0060335 autosomal dominant sideroblastic anemia 4 semapv:UnspecifiedMatching MONDO:0008422 autosomal dominant sideroblastic anemia skos:exactMatch MEDGEN:902781 semapv:UnspecifiedMatching MONDO:0008422 autosomal dominant sideroblastic anemia skos:exactMatch OMIM:182170 anemia, sideroblastic, 4 semapv:UnspecifiedMatching MONDO:0008422 autosomal dominant sideroblastic anemia skos:exactMatch UMLS:C4225428 semapv:UnspecifiedMatching MONDO:0008422 autosomal dominant sideroblastic anemia skos:exactMatch mesh:C567160 semapv:UnspecifiedMatching MONDO:0008423 sinus node disease and myopia skos:exactMatch MEDGEN:401121 semapv:UnspecifiedMatching MONDO:0008423 sinus node disease and myopia skos:exactMatch OMIM:182190 sinus node disease and myopia semapv:UnspecifiedMatching MONDO:0008423 sinus node disease and myopia skos:exactMatch UMLS:C1866960 semapv:UnspecifiedMatching MONDO:0008423 sinus node disease and myopia skos:exactMatch mesh:C566690 semapv:UnspecifiedMatching MONDO:0008424 sella turcica, bridged skos:exactMatch MEDGEN:356654 semapv:UnspecifiedMatching MONDO:0008424 sella turcica, bridged skos:exactMatch OMIM:182200 sella turcica, bridged semapv:UnspecifiedMatching MONDO:0008424 sella turcica, bridged skos:exactMatch UMLS:C1866959 semapv:UnspecifiedMatching MONDO:0008424 sella turcica, bridged skos:exactMatch mesh:C566689 semapv:UnspecifiedMatching MONDO:0008425 omphalocele syndrome, Shprintzen-Goldberg type skos:exactMatch MEDGEN:356653 semapv:UnspecifiedMatching MONDO:0008425 omphalocele syndrome, Shprintzen-Goldberg type skos:exactMatch OMIM:182210 shprintzen omphalocele syndrome semapv:UnspecifiedMatching MONDO:0008425 omphalocele syndrome, Shprintzen-Goldberg type skos:exactMatch Orphanet:3164 Omphalocele syndrome, Shprintzen-Goldberg type semapv:UnspecifiedMatching MONDO:0008425 omphalocele syndrome, Shprintzen-Goldberg type skos:exactMatch SCTID:716230005 semapv:UnspecifiedMatching MONDO:0008425 omphalocele syndrome, Shprintzen-Goldberg type skos:exactMatch UMLS:C1866958 semapv:UnspecifiedMatching MONDO:0008425 omphalocele syndrome, Shprintzen-Goldberg type skos:exactMatch mesh:C537329 semapv:UnspecifiedMatching MONDO:0008426 Shprintzen-Goldberg syndrome skos:exactMatch MEDGEN:231160 semapv:UnspecifiedMatching MONDO:0008426 Shprintzen-Goldberg syndrome skos:exactMatch NCIT:C124840 Shprintzen-Goldberg Craniosynostosis Syndrome semapv:UnspecifiedMatching MONDO:0008426 Shprintzen-Goldberg syndrome skos:exactMatch OMIM:182212 shprintzen-goldberg craniosynostosis syndrome semapv:UnspecifiedMatching MONDO:0008426 Shprintzen-Goldberg syndrome skos:exactMatch Orphanet:2462 Shprintzen-Goldberg syndrome semapv:UnspecifiedMatching MONDO:0008426 Shprintzen-Goldberg syndrome skos:exactMatch SCTID:719069008 semapv:UnspecifiedMatching MONDO:0008426 Shprintzen-Goldberg syndrome skos:exactMatch UMLS:C1321551 semapv:UnspecifiedMatching MONDO:0008427 sister chromatid exchange, frequency of skos:exactMatch MEDGEN:357877 semapv:UnspecifiedMatching MONDO:0008427 sister chromatid exchange, frequency of skos:exactMatch OMIM:182220 sister chromatid exchange, frequency of semapv:UnspecifiedMatching MONDO:0008427 sister chromatid exchange, frequency of skos:exactMatch UMLS:C1866942 semapv:UnspecifiedMatching MONDO:0008428 septooptic dysplasia skos:exactMatch DOID:0060857 septooptic dysplasia semapv:UnspecifiedMatching MONDO:0008428 septooptic dysplasia skos:exactMatch MEDGEN:90926 semapv:UnspecifiedMatching MONDO:0008428 septooptic dysplasia skos:exactMatch NCIT:C85063 Septo-Optic Dysplasia semapv:UnspecifiedMatching MONDO:0008428 septooptic dysplasia skos:exactMatch OMIM:182230 septooptic dysplasia semapv:UnspecifiedMatching MONDO:0008428 septooptic dysplasia skos:exactMatch Orphanet:3157 Septo-optic dysplasia spectrum semapv:UnspecifiedMatching MONDO:0008428 septooptic dysplasia skos:exactMatch SCTID:7611002 semapv:UnspecifiedMatching MONDO:0008428 septooptic dysplasia skos:exactMatch UMLS:C0338503 semapv:UnspecifiedMatching MONDO:0008428 septooptic dysplasia skos:exactMatch mesh:D025962 semapv:UnspecifiedMatching MONDO:0008429 Singleton-Merten dysplasia skos:exactMatch MEDGEN:98481 semapv:UnspecifiedMatching MONDO:0008429 Singleton-Merten dysplasia skos:exactMatch OMIMPS:182250 Singleton-Merten syndrome semapv:UnspecifiedMatching MONDO:0008429 Singleton-Merten dysplasia skos:exactMatch Orphanet:85191 Singleton-Merten dysplasia semapv:UnspecifiedMatching MONDO:0008429 Singleton-Merten dysplasia skos:exactMatch SCTID:254114000 semapv:UnspecifiedMatching MONDO:0008429 Singleton-Merten dysplasia skos:exactMatch UMLS:C0432254 semapv:UnspecifiedMatching MONDO:0008429 Singleton-Merten dysplasia skos:exactMatch icd11.foundation:1084593684 Singleton-Merten dysplasia semapv:UnspecifiedMatching MONDO:0008429 Singleton-Merten dysplasia skos:exactMatch mesh:C537343 semapv:UnspecifiedMatching MONDO:0008430 skeletal dysplasia with delayed epiphyseal and carpal bone ossification skos:exactMatch MEDGEN:356650 semapv:UnspecifiedMatching MONDO:0008430 skeletal dysplasia with delayed epiphyseal and carpal bone ossification skos:exactMatch OMIM:182255 skeletal dysplasia with delayed epiphyseal and carpal bone ossification semapv:UnspecifiedMatching MONDO:0008430 skeletal dysplasia with delayed epiphyseal and carpal bone ossification skos:exactMatch UMLS:C1866939 semapv:UnspecifiedMatching MONDO:0008430 skeletal dysplasia with delayed epiphyseal and carpal bone ossification skos:exactMatch mesh:C566687 semapv:UnspecifiedMatching MONDO:0008432 obsolete ketone compounds, ability to smell skos:exactMatch OMIM:182270 ketone compounds, ability to smell semapv:UnspecifiedMatching MONDO:0008433 small cell lung carcinoma skos:exactMatch DOID:5409 lung small cell carcinoma semapv:UnspecifiedMatching MONDO:0008433 small cell lung carcinoma skos:exactMatch DOID:5411 lung oat cell carcinoma semapv:UnspecifiedMatching MONDO:0008433 small cell lung carcinoma skos:exactMatch EFO:0000702 semapv:UnspecifiedMatching MONDO:0008433 small cell lung carcinoma skos:exactMatch MEDGEN:57450 semapv:UnspecifiedMatching MONDO:0008433 small cell lung carcinoma skos:exactMatch NCIT:C4917 Lung Small Cell Carcinoma semapv:UnspecifiedMatching MONDO:0008433 small cell lung carcinoma skos:exactMatch OMIM:182280 small cell cancer of the lung semapv:UnspecifiedMatching MONDO:0008433 small cell lung carcinoma skos:exactMatch Orphanet:70573 Small cell lung cancer semapv:UnspecifiedMatching MONDO:0008433 small cell lung carcinoma skos:exactMatch SCTID:254632001 semapv:UnspecifiedMatching MONDO:0008433 small cell lung carcinoma skos:exactMatch UMLS:C0149925 semapv:UnspecifiedMatching MONDO:0008433 small cell lung carcinoma skos:exactMatch icd11.foundation:1800431439 Small cell carcinoma of bronchus or lung semapv:UnspecifiedMatching MONDO:0008433 small cell lung carcinoma skos:exactMatch mesh:D055752 semapv:UnspecifiedMatching MONDO:0008434 Smith-Magenis syndrome skos:exactMatch DOID:0060768 Smith-Magenis syndrome semapv:UnspecifiedMatching MONDO:0008434 Smith-Magenis syndrome skos:exactMatch MEDGEN:162881 semapv:UnspecifiedMatching MONDO:0008434 Smith-Magenis syndrome skos:exactMatch NCIT:C75469 Smith-Magenis Syndrome semapv:UnspecifiedMatching MONDO:0008434 Smith-Magenis syndrome skos:exactMatch OMIM:182290 smith-magenis syndrome semapv:UnspecifiedMatching MONDO:0008434 Smith-Magenis syndrome skos:exactMatch Orphanet:819 Smith-Magenis syndrome semapv:UnspecifiedMatching MONDO:0008434 Smith-Magenis syndrome skos:exactMatch SCTID:401315004 semapv:UnspecifiedMatching MONDO:0008434 Smith-Magenis syndrome skos:exactMatch UMLS:C0795864 semapv:UnspecifiedMatching MONDO:0008434 Smith-Magenis syndrome skos:exactMatch icd11.foundation:989025532 Smith-Magenis syndrome semapv:UnspecifiedMatching MONDO:0008434 Smith-Magenis syndrome skos:exactMatch mesh:D058496 semapv:UnspecifiedMatching MONDO:0008435 Somatomedin, embryonic skos:exactMatch MEDGEN:401103 semapv:UnspecifiedMatching MONDO:0008435 Somatomedin, embryonic skos:exactMatch OMIM:182400 somatomedin, embryonic semapv:UnspecifiedMatching MONDO:0008435 Somatomedin, embryonic skos:exactMatch UMLS:C1866879 semapv:UnspecifiedMatching MONDO:0008436 Sneddon syndrome skos:exactMatch DOID:13096 Sneddon syndrome semapv:UnspecifiedMatching MONDO:0008436 Sneddon syndrome skos:exactMatch EFO:1001186 semapv:UnspecifiedMatching MONDO:0008436 Sneddon syndrome skos:exactMatch MEDGEN:76449 semapv:UnspecifiedMatching MONDO:0008436 Sneddon syndrome skos:exactMatch OMIM:182410 sneddon syndrome semapv:UnspecifiedMatching MONDO:0008436 Sneddon syndrome skos:exactMatch Orphanet:820 Sneddon syndrome semapv:UnspecifiedMatching MONDO:0008436 Sneddon syndrome skos:exactMatch SCTID:238776001 semapv:UnspecifiedMatching MONDO:0008436 Sneddon syndrome skos:exactMatch UMLS:C0282492 semapv:UnspecifiedMatching MONDO:0008436 Sneddon syndrome skos:exactMatch icd11.foundation:1474816492 Sneddon syndrome semapv:UnspecifiedMatching MONDO:0008436 Sneddon syndrome skos:exactMatch mesh:D018860 semapv:UnspecifiedMatching MONDO:0008437 hereditary spastic paraplegia 3A skos:exactMatch DOID:0110791 hereditary spastic paraplegia 3A semapv:UnspecifiedMatching MONDO:0008437 hereditary spastic paraplegia 3A skos:exactMatch MEDGEN:419393 semapv:UnspecifiedMatching MONDO:0008437 hereditary spastic paraplegia 3A skos:exactMatch NCIT:C142893 Spastic Paraplegia 3A semapv:UnspecifiedMatching MONDO:0008437 hereditary spastic paraplegia 3A skos:exactMatch OMIM:182600 spastic paraplegia 3, autosomal dominant semapv:UnspecifiedMatching MONDO:0008437 hereditary spastic paraplegia 3A skos:exactMatch Orphanet:100984 Autosomal dominant spastic paraplegia type 3 semapv:UnspecifiedMatching MONDO:0008437 hereditary spastic paraplegia 3A skos:exactMatch UMLS:C2931355 semapv:UnspecifiedMatching MONDO:0008437 hereditary spastic paraplegia 3A skos:exactMatch mesh:C536864 semapv:UnspecifiedMatching MONDO:0008438 hereditary spastic paraplegia 4 skos:exactMatch DOID:0110792 hereditary spastic paraplegia 4 semapv:UnspecifiedMatching MONDO:0008438 hereditary spastic paraplegia 4 skos:exactMatch MEDGEN:401097 semapv:UnspecifiedMatching MONDO:0008438 hereditary spastic paraplegia 4 skos:exactMatch NCIT:C129981 Spastic Paraplegia 4 semapv:UnspecifiedMatching MONDO:0008438 hereditary spastic paraplegia 4 skos:exactMatch OMIM:182601 spastic paraplegia 4, autosomal dominant semapv:UnspecifiedMatching MONDO:0008438 hereditary spastic paraplegia 4 skos:exactMatch Orphanet:100985 Autosomal dominant spastic paraplegia type 4 semapv:UnspecifiedMatching MONDO:0008438 hereditary spastic paraplegia 4 skos:exactMatch SCTID:723820001 semapv:UnspecifiedMatching MONDO:0008438 hereditary spastic paraplegia 4 skos:exactMatch UMLS:C1866855 semapv:UnspecifiedMatching MONDO:0008438 hereditary spastic paraplegia 4 skos:exactMatch mesh:C536865 semapv:UnspecifiedMatching MONDO:0008439 spastic paraplegia-epilepsy-intellectual disability syndrome skos:exactMatch MEDGEN:356631 semapv:UnspecifiedMatching MONDO:0008439 spastic paraplegia-epilepsy-intellectual disability syndrome skos:exactMatch OMIM:182610 spastic paraplegia, epilepsy, and impaired intellectual development semapv:UnspecifiedMatching MONDO:0008439 spastic paraplegia-epilepsy-intellectual disability syndrome skos:exactMatch UMLS:C1866854 semapv:UnspecifiedMatching MONDO:0008439 spastic paraplegia-epilepsy-intellectual disability syndrome skos:exactMatch mesh:C536869 semapv:UnspecifiedMatching MONDO:0008440 spastic paraplegia-nephritis-deafness syndrome skos:exactMatch MEDGEN:355816 semapv:UnspecifiedMatching MONDO:0008440 spastic paraplegia-nephritis-deafness syndrome skos:exactMatch OMIM:182690 spastic paraplegia, sensorineural deafness, impaired intellectual development, and progressive nephropathy semapv:UnspecifiedMatching MONDO:0008440 spastic paraplegia-nephritis-deafness syndrome skos:exactMatch Orphanet:2820 Spastic paraplegia-nephritis-deafness syndrome semapv:UnspecifiedMatching MONDO:0008440 spastic paraplegia-nephritis-deafness syndrome skos:exactMatch UMLS:C1866853 semapv:UnspecifiedMatching MONDO:0008440 spastic paraplegia-nephritis-deafness syndrome skos:exactMatch mesh:C537937 semapv:UnspecifiedMatching MONDO:0008441 spastic paraplegia with associated extrapyramidal signs skos:exactMatch MEDGEN:355815 semapv:UnspecifiedMatching MONDO:0008441 spastic paraplegia with associated extrapyramidal signs skos:exactMatch OMIM:182800 spastic paraplegia with associated extrapyramidal signs semapv:UnspecifiedMatching MONDO:0008441 spastic paraplegia with associated extrapyramidal signs skos:exactMatch UMLS:C1866852 semapv:UnspecifiedMatching MONDO:0008441 spastic paraplegia with associated extrapyramidal signs skos:exactMatch mesh:C566681 semapv:UnspecifiedMatching MONDO:0008442 spastic paraplegia-neuropathy-poikiloderma syndrome skos:exactMatch MEDGEN:355814 semapv:UnspecifiedMatching MONDO:0008442 spastic paraplegia-neuropathy-poikiloderma syndrome skos:exactMatch OMIM:182815 spastic paraplegia with neuropathy and poikiloderma semapv:UnspecifiedMatching MONDO:0008442 spastic paraplegia-neuropathy-poikiloderma syndrome skos:exactMatch Orphanet:2821 Spastic paraplegia-neuropathy-poikiloderma syndrome semapv:UnspecifiedMatching MONDO:0008442 spastic paraplegia-neuropathy-poikiloderma syndrome skos:exactMatch UMLS:C1866851 semapv:UnspecifiedMatching MONDO:0008442 spastic paraplegia-neuropathy-poikiloderma syndrome skos:exactMatch mesh:C536870 semapv:UnspecifiedMatching MONDO:0008443 spastic paraplegia-precocious puberty syndrome skos:exactMatch MEDGEN:401096 semapv:UnspecifiedMatching MONDO:0008443 spastic paraplegia-precocious puberty syndrome skos:exactMatch OMIM:182820 spastic paraplegia with precocious puberty semapv:UnspecifiedMatching MONDO:0008443 spastic paraplegia-precocious puberty syndrome skos:exactMatch Orphanet:2826 Spastic paraplegia-precocious puberty syndrome semapv:UnspecifiedMatching MONDO:0008443 spastic paraplegia-precocious puberty syndrome skos:exactMatch UMLS:C1866850 semapv:UnspecifiedMatching MONDO:0008443 spastic paraplegia-precocious puberty syndrome skos:exactMatch mesh:C536874 semapv:UnspecifiedMatching MONDO:0008444 spastic paraplegia, optic atrophy, and dementia skos:exactMatch MEDGEN:356630 semapv:UnspecifiedMatching MONDO:0008444 spastic paraplegia, optic atrophy, and dementia skos:exactMatch OMIM:182830 spastic paraplegia, optic atrophy, and dementia semapv:UnspecifiedMatching MONDO:0008444 spastic paraplegia, optic atrophy, and dementia skos:exactMatch UMLS:C1866849 semapv:UnspecifiedMatching MONDO:0008444 spastic paraplegia, optic atrophy, and dementia skos:exactMatch mesh:C566679 semapv:UnspecifiedMatching MONDO:0008445 delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome skos:exactMatch MEDGEN:355803 semapv:UnspecifiedMatching MONDO:0008445 delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome skos:exactMatch OMIM:182875 speech development, delayed, with facial asymmetry, strabismus, and transverse earlobe crease semapv:UnspecifiedMatching MONDO:0008445 delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome skos:exactMatch Orphanet:3038 Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome semapv:UnspecifiedMatching MONDO:0008445 delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome skos:exactMatch SCTID:716199000 semapv:UnspecifiedMatching MONDO:0008445 delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome skos:exactMatch UMLS:C1866802 semapv:UnspecifiedMatching MONDO:0008446 sperm protamine P4 skos:exactMatch MEDGEN:355802 semapv:UnspecifiedMatching MONDO:0008446 sperm protamine P4 skos:exactMatch OMIM:182882 sperm protamine p4 semapv:UnspecifiedMatching MONDO:0008446 sperm protamine P4 skos:exactMatch UMLS:C1866801 semapv:UnspecifiedMatching MONDO:0008447 hereditary spherocytosis type 1 skos:exactMatch DOID:0110916 hereditary spherocytosis type 1 semapv:UnspecifiedMatching MONDO:0008447 hereditary spherocytosis type 1 skos:exactMatch MEDGEN:382302 semapv:UnspecifiedMatching MONDO:0008447 hereditary spherocytosis type 1 skos:exactMatch OMIM:182900 spherocytosis, type 1 semapv:UnspecifiedMatching MONDO:0008447 hereditary spherocytosis type 1 skos:exactMatch UMLS:C2674218 semapv:UnspecifiedMatching MONDO:0008449 spina bifida skos:exactMatch DOID:0080016 spina bifida semapv:UnspecifiedMatching MONDO:0008449 spina bifida skos:exactMatch EFO:0003105 semapv:UnspecifiedMatching MONDO:0008449 spina bifida skos:exactMatch ICD10CM:Q05 Spina bifida semapv:UnspecifiedMatching MONDO:0008449 spina bifida skos:exactMatch ICD10WHO:Q05 Spina bifida semapv:UnspecifiedMatching MONDO:0008449 spina bifida skos:exactMatch MEDGEN:38283 semapv:UnspecifiedMatching MONDO:0008449 spina bifida skos:exactMatch NCIT:C101214 Spina Bifida semapv:UnspecifiedMatching MONDO:0008449 spina bifida skos:exactMatch SCTID:67531005 semapv:UnspecifiedMatching MONDO:0008449 spina bifida skos:exactMatch UMLS:C0080178 semapv:UnspecifiedMatching MONDO:0008449 spina bifida skos:exactMatch icd11.foundation:2036217905 Spina bifida semapv:UnspecifiedMatching MONDO:0008449 spina bifida skos:exactMatch mesh:D016135 semapv:UnspecifiedMatching MONDO:0008450 spinal arachnoiditis skos:exactMatch MEDGEN:318191 semapv:UnspecifiedMatching MONDO:0008450 spinal arachnoiditis skos:exactMatch NCIT:C50749 Spinal Arachnoiditis semapv:UnspecifiedMatching MONDO:0008450 spinal arachnoiditis skos:exactMatch OMIM:182950 spinal arachnoiditis semapv:UnspecifiedMatching MONDO:0008450 spinal arachnoiditis skos:exactMatch SCTID:426055002 semapv:UnspecifiedMatching MONDO:0008450 spinal arachnoiditis skos:exactMatch UMLS:C1710146 semapv:UnspecifiedMatching MONDO:0008450 spinal arachnoiditis skos:exactMatch icd11.foundation:1074591848 Spinal arachnoiditis semapv:UnspecifiedMatching MONDO:0008450 spinal arachnoiditis skos:exactMatch mesh:C531624 semapv:UnspecifiedMatching MONDO:0008451 neuronopathy, distal hereditary motor, autosomal dominant 1 skos:exactMatch DOID:0111200 autosomal dominant distal hereditary motor neuronopathy 1 semapv:UnspecifiedMatching MONDO:0008451 neuronopathy, distal hereditary motor, autosomal dominant 1 skos:exactMatch MEDGEN:356618 semapv:UnspecifiedMatching MONDO:0008451 neuronopathy, distal hereditary motor, autosomal dominant 1 skos:exactMatch NCIT:C132826 Charcot-Marie-Tooth Disease, Spinal, Type I semapv:UnspecifiedMatching MONDO:0008451 neuronopathy, distal hereditary motor, autosomal dominant 1 skos:exactMatch OMIM:182960 neuronopathy, distal hereditary motor, autosomal dominant 1 semapv:UnspecifiedMatching MONDO:0008451 neuronopathy, distal hereditary motor, autosomal dominant 1 skos:exactMatch Orphanet:139518 Distal hereditary motor neuropathy type 1 semapv:UnspecifiedMatching MONDO:0008451 neuronopathy, distal hereditary motor, autosomal dominant 1 skos:exactMatch UMLS:C1866784 semapv:UnspecifiedMatching MONDO:0008451 neuronopathy, distal hereditary motor, autosomal dominant 1 skos:exactMatch mesh:C566675 semapv:UnspecifiedMatching MONDO:0008452 spinal muscular atrophy, facioscapulohumeral type skos:exactMatch MEDGEN:357136 semapv:UnspecifiedMatching MONDO:0008452 spinal muscular atrophy, facioscapulohumeral type skos:exactMatch OMIM:182970 spinal muscular atrophy, facioscapulohumeral type semapv:UnspecifiedMatching MONDO:0008452 spinal muscular atrophy, facioscapulohumeral type skos:exactMatch UMLS:C1866783 semapv:UnspecifiedMatching MONDO:0008452 spinal muscular atrophy, facioscapulohumeral type skos:exactMatch mesh:C566674 semapv:UnspecifiedMatching MONDO:0008453 adult-onset proximal spinal muscular atrophy, autosomal dominant skos:exactMatch DOID:0111194 autosomal dominant adult-onset proximal spinal muscular atrophy semapv:UnspecifiedMatching MONDO:0008453 adult-onset proximal spinal muscular atrophy, autosomal dominant skos:exactMatch MEDGEN:340120 semapv:UnspecifiedMatching MONDO:0008453 adult-onset proximal spinal muscular atrophy, autosomal dominant skos:exactMatch OMIM:182980 spinal muscular atrophy, late-onset, finkel type semapv:UnspecifiedMatching MONDO:0008453 adult-onset proximal spinal muscular atrophy, autosomal dominant skos:exactMatch Orphanet:209335 Autosomal dominant adult-onset proximal spinal muscular atrophy semapv:UnspecifiedMatching MONDO:0008453 adult-onset proximal spinal muscular atrophy, autosomal dominant skos:exactMatch UMLS:C1854058 semapv:UnspecifiedMatching MONDO:0008454 spinal intradural arachnoid cysts skos:exactMatch MEDGEN:83372 semapv:UnspecifiedMatching MONDO:0008454 spinal intradural arachnoid cysts skos:exactMatch OMIM:182990 spinal intradural arachnoid cysts semapv:UnspecifiedMatching MONDO:0008454 spinal intradural arachnoid cysts skos:exactMatch UMLS:C0344485 semapv:UnspecifiedMatching MONDO:0008454 spinal intradural arachnoid cysts skos:exactMatch mesh:C536878 semapv:UnspecifiedMatching MONDO:0008455 spinal muscular atrophy, segmental skos:exactMatch MEDGEN:355801 semapv:UnspecifiedMatching MONDO:0008455 spinal muscular atrophy, segmental skos:exactMatch OMIM:183020 spinal muscular atrophy, segmental semapv:UnspecifiedMatching MONDO:0008455 spinal muscular atrophy, segmental skos:exactMatch UMLS:C1866774 semapv:UnspecifiedMatching MONDO:0008455 spinal muscular atrophy, segmental skos:exactMatch mesh:C566670 semapv:UnspecifiedMatching MONDO:0008456 spinocerebellar ataxia with rigidity and peripheral neuropathy skos:exactMatch MEDGEN:401079 semapv:UnspecifiedMatching MONDO:0008456 spinocerebellar ataxia with rigidity and peripheral neuropathy skos:exactMatch OMIM:183050 spinocerebellar ataxia with rigidity and peripheral neuropathy semapv:UnspecifiedMatching MONDO:0008456 spinocerebellar ataxia with rigidity and peripheral neuropathy skos:exactMatch UMLS:C1866770 semapv:UnspecifiedMatching MONDO:0008456 spinocerebellar ataxia with rigidity and peripheral neuropathy skos:exactMatch mesh:C566669 semapv:UnspecifiedMatching MONDO:0008457 spinocerebellar ataxia type 6 skos:exactMatch DOID:0050956 spinocerebellar ataxia 6 semapv:UnspecifiedMatching MONDO:0008457 spinocerebellar ataxia type 6 skos:exactMatch MEDGEN:148458 semapv:UnspecifiedMatching MONDO:0008457 spinocerebellar ataxia type 6 skos:exactMatch NCIT:C142838 Spinocerebellar Ataxia Type 6 semapv:UnspecifiedMatching MONDO:0008457 spinocerebellar ataxia type 6 skos:exactMatch OMIM:183086 spinocerebellar ataxia 6 semapv:UnspecifiedMatching MONDO:0008457 spinocerebellar ataxia type 6 skos:exactMatch Orphanet:98758 Spinocerebellar ataxia type 6 semapv:UnspecifiedMatching MONDO:0008457 spinocerebellar ataxia type 6 skos:exactMatch SCTID:715752006 semapv:UnspecifiedMatching MONDO:0008457 spinocerebellar ataxia type 6 skos:exactMatch UMLS:C0752124 semapv:UnspecifiedMatching MONDO:0008457 spinocerebellar ataxia type 6 skos:exactMatch icd11.foundation:1056119281 Spinocerebellar ataxia type 6 semapv:UnspecifiedMatching MONDO:0008458 spinocerebellar ataxia type 2 skos:exactMatch DOID:0050955 spinocerebellar ataxia 2 semapv:UnspecifiedMatching MONDO:0008458 spinocerebellar ataxia type 2 skos:exactMatch DOID:0060204 amyotrophic lateral sclerosis type 13 semapv:UnspecifiedMatching MONDO:0008458 spinocerebellar ataxia type 2 skos:exactMatch MEDGEN:155704 semapv:UnspecifiedMatching MONDO:0008458 spinocerebellar ataxia type 2 skos:exactMatch NCIT:C148315 Spinocerebellar Ataxia Type 2 semapv:UnspecifiedMatching MONDO:0008458 spinocerebellar ataxia type 2 skos:exactMatch OMIM:183090 spinocerebellar ataxia 2 semapv:UnspecifiedMatching MONDO:0008458 spinocerebellar ataxia type 2 skos:exactMatch Orphanet:98756 Spinocerebellar ataxia type 2 semapv:UnspecifiedMatching MONDO:0008458 spinocerebellar ataxia type 2 skos:exactMatch SCTID:715751004 semapv:UnspecifiedMatching MONDO:0008458 spinocerebellar ataxia type 2 skos:exactMatch UMLS:C0752121 semapv:UnspecifiedMatching MONDO:0008458 spinocerebellar ataxia type 2 skos:exactMatch icd11.foundation:1232187870 Spinocerebellar ataxia type 2 semapv:UnspecifiedMatching MONDO:0008459 spinocerebellar atrophy with pupillary paralysis skos:exactMatch MEDGEN:356608 semapv:UnspecifiedMatching MONDO:0008459 spinocerebellar atrophy with pupillary paralysis skos:exactMatch OMIM:183100 spinocerebellar atrophy with pupillary paralysis semapv:UnspecifiedMatching MONDO:0008459 spinocerebellar atrophy with pupillary paralysis skos:exactMatch UMLS:C1866746 semapv:UnspecifiedMatching MONDO:0008459 spinocerebellar atrophy with pupillary paralysis skos:exactMatch mesh:C566668 semapv:UnspecifiedMatching MONDO:0008460 splenogonadal fusion-limb defects-micrognathia syndrome skos:exactMatch MEDGEN:401073 semapv:UnspecifiedMatching MONDO:0008460 splenogonadal fusion-limb defects-micrognathia syndrome skos:exactMatch OMIM:183300 splenogonadal fusion with limb defects and micrognathia semapv:UnspecifiedMatching MONDO:0008460 splenogonadal fusion-limb defects-micrognathia syndrome skos:exactMatch Orphanet:2063 Splenogonadal fusion-limb defects-micrognathia syndrome semapv:UnspecifiedMatching MONDO:0008460 splenogonadal fusion-limb defects-micrognathia syndrome skos:exactMatch SCTID:726724005 semapv:UnspecifiedMatching MONDO:0008460 splenogonadal fusion-limb defects-micrognathia syndrome skos:exactMatch UMLS:C1866745 semapv:UnspecifiedMatching MONDO:0008460 splenogonadal fusion-limb defects-micrognathia syndrome skos:exactMatch mesh:C537318 semapv:UnspecifiedMatching MONDO:0008461 splenomegaly syndrome with splenic Germinal center hypoplasia and reduced circulating T helper cells skos:exactMatch MEDGEN:357126 semapv:UnspecifiedMatching MONDO:0008461 splenomegaly syndrome with splenic Germinal center hypoplasia and reduced circulating T helper cells skos:exactMatch OMIM:183350 splenomegaly syndrome with splenic germinal center hypoplasia and reduced circulating t helper cells semapv:UnspecifiedMatching MONDO:0008461 splenomegaly syndrome with splenic Germinal center hypoplasia and reduced circulating T helper cells skos:exactMatch UMLS:C1866744 semapv:UnspecifiedMatching MONDO:0008461 splenomegaly syndrome with splenic Germinal center hypoplasia and reduced circulating T helper cells skos:exactMatch mesh:C566666 semapv:UnspecifiedMatching MONDO:0008462 split lower lip skos:exactMatch MEDGEN:356607 semapv:UnspecifiedMatching MONDO:0008462 split lower lip skos:exactMatch OMIM:183400 split lower 51p semapv:UnspecifiedMatching MONDO:0008462 split lower lip skos:exactMatch UMLS:C1866743 semapv:UnspecifiedMatching MONDO:0008463 split-hand and split-foot with hypodontia skos:exactMatch MEDGEN:357125 semapv:UnspecifiedMatching MONDO:0008463 split-hand and split-foot with hypodontia skos:exactMatch OMIM:183500 split-hand and split-foot with hypodontia semapv:UnspecifiedMatching MONDO:0008463 split-hand and split-foot with hypodontia skos:exactMatch UMLS:C1866742 semapv:UnspecifiedMatching MONDO:0008463 split-hand and split-foot with hypodontia skos:exactMatch mesh:C566665 semapv:UnspecifiedMatching MONDO:0008464 split hand-foot malformation 1 skos:exactMatch DOID:0090021 split hand-foot malformation 1 semapv:UnspecifiedMatching MONDO:0008464 split hand-foot malformation 1 skos:exactMatch MEDGEN:419314 semapv:UnspecifiedMatching MONDO:0008464 split hand-foot malformation 1 skos:exactMatch NCIT:C75045 Split-Hand/Foot Malformation Type 1 semapv:UnspecifiedMatching MONDO:0008464 split hand-foot malformation 1 skos:exactMatch OMIM:183600 split-hand/foot malformation 1 semapv:UnspecifiedMatching MONDO:0008464 split hand-foot malformation 1 skos:exactMatch UMLS:C2931019 semapv:UnspecifiedMatching MONDO:0008465 Patterson-Stevenson-Fontaine syndrome skos:exactMatch MEDGEN:1808766 semapv:UnspecifiedMatching MONDO:0008465 Patterson-Stevenson-Fontaine syndrome skos:exactMatch OMIM:183700 split-foot deformity with mandibulofacial dysostosis semapv:UnspecifiedMatching MONDO:0008465 Patterson-Stevenson-Fontaine syndrome skos:exactMatch Orphanet:2439 Patterson-Stevenson-Fontaine syndrome semapv:UnspecifiedMatching MONDO:0008465 Patterson-Stevenson-Fontaine syndrome skos:exactMatch SCTID:724069009 semapv:UnspecifiedMatching MONDO:0008465 Patterson-Stevenson-Fontaine syndrome skos:exactMatch UMLS:C5574964 semapv:UnspecifiedMatching MONDO:0008466 Karsch-Neugebauer syndrome skos:exactMatch MEDGEN:401072 semapv:UnspecifiedMatching MONDO:0008466 Karsch-Neugebauer syndrome skos:exactMatch OMIM:183800 split-hand with congenital nystagmus, fundal changes, and cataracts semapv:UnspecifiedMatching MONDO:0008466 Karsch-Neugebauer syndrome skos:exactMatch Orphanet:2329 Karsch-Neugebauer syndrome semapv:UnspecifiedMatching MONDO:0008466 Karsch-Neugebauer syndrome skos:exactMatch SCTID:722032005 semapv:UnspecifiedMatching MONDO:0008466 Karsch-Neugebauer syndrome skos:exactMatch UMLS:C1866740 semapv:UnspecifiedMatching MONDO:0008466 Karsch-Neugebauer syndrome skos:exactMatch mesh:C537319 semapv:UnspecifiedMatching MONDO:0008467 Czeizel-Losonci syndrome skos:exactMatch MEDGEN:401071 semapv:UnspecifiedMatching MONDO:0008467 Czeizel-Losonci syndrome skos:exactMatch OMIM:183802 split-hand with obstructive uropathy, spina bifida, and diaphragmatic defects semapv:UnspecifiedMatching MONDO:0008467 Czeizel-Losonci syndrome skos:exactMatch Orphanet:2437 Czeizel-Losonci syndrome semapv:UnspecifiedMatching MONDO:0008467 Czeizel-Losonci syndrome skos:exactMatch UMLS:C1866739 semapv:UnspecifiedMatching MONDO:0008467 Czeizel-Losonci syndrome skos:exactMatch mesh:C566662 semapv:UnspecifiedMatching MONDO:0008468 spondyloarthropathy, susceptibility to, 2 skos:exactMatch DOID:0080604 ankylosing spondylitis 2 semapv:UnspecifiedMatching MONDO:0008468 spondyloarthropathy, susceptibility to, 2 skos:exactMatch MEDGEN:355791 semapv:UnspecifiedMatching MONDO:0008468 spondyloarthropathy, susceptibility to, 2 skos:exactMatch OMIM:183840 spondyloarthropathy, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0008468 spondyloarthropathy, susceptibility to, 2 skos:exactMatch UMLS:C1866738 semapv:UnspecifiedMatching MONDO:0008469 spondyloepimetaphyseal dysplasia-hypotrichosis syndrome skos:exactMatch MEDGEN:357120 semapv:UnspecifiedMatching MONDO:0008469 spondyloepimetaphyseal dysplasia-hypotrichosis syndrome skos:exactMatch OMIM:183849 spondyloepimetaphyseal dysplasia with hypotrichosis semapv:UnspecifiedMatching MONDO:0008469 spondyloepimetaphyseal dysplasia-hypotrichosis syndrome skos:exactMatch Orphanet:168443 Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome semapv:UnspecifiedMatching MONDO:0008469 spondyloepimetaphyseal dysplasia-hypotrichosis syndrome skos:exactMatch UMLS:C1866728 semapv:UnspecifiedMatching MONDO:0008469 spondyloepimetaphyseal dysplasia-hypotrichosis syndrome skos:exactMatch mesh:C535783 semapv:UnspecifiedMatching MONDO:0008470 spondyloepiphyseal dysplasia with punctate corneal dystrophy skos:exactMatch DOID:0112286 spondyloepiphyseal dysplasia with punctate corneal dystrophy semapv:UnspecifiedMatching MONDO:0008470 spondyloepiphyseal dysplasia with punctate corneal dystrophy skos:exactMatch MEDGEN:357119 semapv:UnspecifiedMatching MONDO:0008470 spondyloepiphyseal dysplasia with punctate corneal dystrophy skos:exactMatch OMIM:183850 spondyloepiphyseal dysplasia with punctate corneal dystrophy semapv:UnspecifiedMatching MONDO:0008470 spondyloepiphyseal dysplasia with punctate corneal dystrophy skos:exactMatch UMLS:C1866727 semapv:UnspecifiedMatching MONDO:0008470 spondyloepiphyseal dysplasia with punctate corneal dystrophy skos:exactMatch mesh:C566660 semapv:UnspecifiedMatching MONDO:0008471 spondyloepiphyseal dysplasia congenita skos:exactMatch DOID:14789 spondyloepiphyseal dysplasia congenita semapv:UnspecifiedMatching MONDO:0008471 spondyloepiphyseal dysplasia congenita skos:exactMatch MEDGEN:412530 semapv:UnspecifiedMatching MONDO:0008471 spondyloepiphyseal dysplasia congenita skos:exactMatch OMIM:183900 spondyloepiphyseal dysplasia congenita semapv:UnspecifiedMatching MONDO:0008471 spondyloepiphyseal dysplasia congenita skos:exactMatch Orphanet:94068 Spondyloepiphyseal dysplasia congenita semapv:UnspecifiedMatching MONDO:0008471 spondyloepiphyseal dysplasia congenita skos:exactMatch SCTID:278713008 semapv:UnspecifiedMatching MONDO:0008471 spondyloepiphyseal dysplasia congenita skos:exactMatch UMLS:C2745959 semapv:UnspecifiedMatching MONDO:0008471 spondyloepiphyseal dysplasia congenita skos:exactMatch mesh:C535788 semapv:UnspecifiedMatching MONDO:0008472 spondyloepiphyseal dysplasia, MacDermot type skos:exactMatch MEDGEN:401067 semapv:UnspecifiedMatching MONDO:0008472 spondyloepiphyseal dysplasia, MacDermot type skos:exactMatch OMIM:184000 spondyloepiphyseal dysplasia, myopia, and sensorineural deafness semapv:UnspecifiedMatching MONDO:0008472 spondyloepiphyseal dysplasia, MacDermot type skos:exactMatch Orphanet:163668 Spondyloepiphyseal dysplasia, MacDermot type semapv:UnspecifiedMatching MONDO:0008472 spondyloepiphyseal dysplasia, MacDermot type skos:exactMatch UMLS:C1866719 semapv:UnspecifiedMatching MONDO:0008472 spondyloepiphyseal dysplasia, MacDermot type skos:exactMatch icd11.foundation:800575171 Spondyloepiphyseal dysplasia, MacDermot type semapv:UnspecifiedMatching MONDO:0008472 spondyloepiphyseal dysplasia, MacDermot type skos:exactMatch mesh:C566659 semapv:UnspecifiedMatching MONDO:0008473 spondyloepimetaphyseal dysplasia, Maroteaux type skos:exactMatch DOID:0111553 spondyloepiphyseal dysplasia Maroteaux type semapv:UnspecifiedMatching MONDO:0008473 spondyloepimetaphyseal dysplasia, Maroteaux type skos:exactMatch MEDGEN:463613 semapv:UnspecifiedMatching MONDO:0008473 spondyloepimetaphyseal dysplasia, Maroteaux type skos:exactMatch OMIM:184095 spondyloepiphyseal dysplasia, maroteaux type semapv:UnspecifiedMatching MONDO:0008473 spondyloepimetaphyseal dysplasia, Maroteaux type skos:exactMatch Orphanet:263482 Spondyloepimetaphyseal dysplasia, Maroteaux type semapv:UnspecifiedMatching MONDO:0008473 spondyloepimetaphyseal dysplasia, Maroteaux type skos:exactMatch SCTID:719204007 semapv:UnspecifiedMatching MONDO:0008473 spondyloepimetaphyseal dysplasia, Maroteaux type skos:exactMatch UMLS:C3159322 semapv:UnspecifiedMatching MONDO:0008474 spondyloepiphyseal dysplasia tarda, autosomal dominant skos:exactMatch DOID:0112285 autosomal dominant spondyloepiphyseal dysplasia tarda semapv:UnspecifiedMatching MONDO:0008474 spondyloepiphyseal dysplasia tarda, autosomal dominant skos:exactMatch MEDGEN:355785 semapv:UnspecifiedMatching MONDO:0008474 spondyloepiphyseal dysplasia tarda, autosomal dominant skos:exactMatch OMIM:184100 spondyloepiphyseal dysplasia tarda, autosomal dominant semapv:UnspecifiedMatching MONDO:0008474 spondyloepiphyseal dysplasia tarda, autosomal dominant skos:exactMatch UMLS:C1866717 semapv:UnspecifiedMatching MONDO:0008474 spondyloepiphyseal dysplasia tarda, autosomal dominant skos:exactMatch mesh:C566658 semapv:UnspecifiedMatching MONDO:0008475 spondylolisthesis skos:exactMatch DOID:6682 spondylolisthesis semapv:UnspecifiedMatching MONDO:0008475 spondylolisthesis skos:exactMatch EFO:0007493 semapv:UnspecifiedMatching MONDO:0008475 spondylolisthesis skos:exactMatch ICD10CM:M43.1 Spondylolisthesis semapv:UnspecifiedMatching MONDO:0008475 spondylolisthesis skos:exactMatch MEDGEN:52470 semapv:UnspecifiedMatching MONDO:0008475 spondylolisthesis skos:exactMatch NCIT:C35033 Spondylolisthesis semapv:UnspecifiedMatching MONDO:0008475 spondylolisthesis skos:exactMatch OMIM:184200 spondylolisthesis semapv:UnspecifiedMatching MONDO:0008475 spondylolisthesis skos:exactMatch SCTID:274152003 semapv:UnspecifiedMatching MONDO:0008475 spondylolisthesis skos:exactMatch UMLS:C0038016 semapv:UnspecifiedMatching MONDO:0008475 spondylolisthesis skos:exactMatch icd11.foundation:1075039772 Spondylolisthesis semapv:UnspecifiedMatching MONDO:0008475 spondylolisthesis skos:exactMatch mesh:D013168 semapv:UnspecifiedMatching MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type skos:exactMatch DOID:0080028 spondyloepimetaphyseal dysplasia, Strudwick type semapv:UnspecifiedMatching MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type skos:exactMatch MEDGEN:147134 semapv:UnspecifiedMatching MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type skos:exactMatch OMIM:184250 spondyloepimetaphyseal dysplasia, strudwick type semapv:UnspecifiedMatching MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type skos:exactMatch Orphanet:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type semapv:UnspecifiedMatching MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type skos:exactMatch SCTID:702350003 semapv:UnspecifiedMatching MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type skos:exactMatch UMLS:C0700635 semapv:UnspecifiedMatching MONDO:0008477 spondylometaphyseal dysplasia, Kozlowski type skos:exactMatch DOID:0111554 spondylometaphyseal dysplasia Kozlowski type semapv:UnspecifiedMatching MONDO:0008477 spondylometaphyseal dysplasia, Kozlowski type skos:exactMatch MEDGEN:82698 semapv:UnspecifiedMatching MONDO:0008477 spondylometaphyseal dysplasia, Kozlowski type skos:exactMatch OMIM:184252 spondylometaphyseal dysplasia, kozlowski type semapv:UnspecifiedMatching MONDO:0008477 spondylometaphyseal dysplasia, Kozlowski type skos:exactMatch Orphanet:93314 Spondylometaphyseal dysplasia, Kozlowski type semapv:UnspecifiedMatching MONDO:0008477 spondylometaphyseal dysplasia, Kozlowski type skos:exactMatch UMLS:C0265280 semapv:UnspecifiedMatching MONDO:0008477 spondylometaphyseal dysplasia, Kozlowski type skos:exactMatch icd11.foundation:360868302 Spondylometaphyseal dysplasia, Kozlowski type semapv:UnspecifiedMatching MONDO:0008477 spondylometaphyseal dysplasia, Kozlowski type skos:exactMatch mesh:C535797 semapv:UnspecifiedMatching MONDO:0008478 spondylometaphyseal dysplasia, Schmidt type skos:exactMatch DOID:0112296 spondylometaphyseal dysplasia Algerian type semapv:UnspecifiedMatching MONDO:0008478 spondylometaphyseal dysplasia, Schmidt type skos:exactMatch MEDGEN:356595 semapv:UnspecifiedMatching MONDO:0008478 spondylometaphyseal dysplasia, Schmidt type skos:exactMatch OMIM:184253 spondylometaphyseal dysplasia, algerian type semapv:UnspecifiedMatching MONDO:0008478 spondylometaphyseal dysplasia, Schmidt type skos:exactMatch Orphanet:93316 Spondylometaphyseal dysplasia, Schmidt type semapv:UnspecifiedMatching MONDO:0008478 spondylometaphyseal dysplasia, Schmidt type skos:exactMatch SCTID:719304005 semapv:UnspecifiedMatching MONDO:0008478 spondylometaphyseal dysplasia, Schmidt type skos:exactMatch UMLS:C1866688 semapv:UnspecifiedMatching MONDO:0008478 spondylometaphyseal dysplasia, Schmidt type skos:exactMatch icd11.foundation:1092012084 Spondylometaphyseal dysplasia, Schmidt type semapv:UnspecifiedMatching MONDO:0008478 spondylometaphyseal dysplasia, Schmidt type skos:exactMatch mesh:C535794 semapv:UnspecifiedMatching MONDO:0008479 spondylometaphyseal dysplasia, 'corner fracture' type skos:exactMatch DOID:0112297 spondylometaphyseal dysplasia corner fracture type semapv:UnspecifiedMatching MONDO:0008479 spondylometaphyseal dysplasia, 'corner fracture' type skos:exactMatch MEDGEN:98146 semapv:UnspecifiedMatching MONDO:0008479 spondylometaphyseal dysplasia, 'corner fracture' type skos:exactMatch OMIM:184255 spondylometaphyseal dysplasia, corner fracture type semapv:UnspecifiedMatching MONDO:0008479 spondylometaphyseal dysplasia, 'corner fracture' type skos:exactMatch Orphanet:93315 Spondylometaphyseal dysplasia, 'corner fracture' type semapv:UnspecifiedMatching MONDO:0008479 spondylometaphyseal dysplasia, 'corner fracture' type skos:exactMatch SCTID:254078005 semapv:UnspecifiedMatching MONDO:0008479 spondylometaphyseal dysplasia, 'corner fracture' type skos:exactMatch UMLS:C0432221 semapv:UnspecifiedMatching MONDO:0008479 spondylometaphyseal dysplasia, 'corner fracture' type skos:exactMatch icd11.foundation:1295452752 Spondylometaphyseal dysplasia, 'corner fracture' type semapv:UnspecifiedMatching MONDO:0008479 spondylometaphyseal dysplasia, 'corner fracture' type skos:exactMatch mesh:C535793 semapv:UnspecifiedMatching MONDO:0008481 spondylosis, cervical skos:exactMatch EFO:0009610 semapv:UnspecifiedMatching MONDO:0008481 spondylosis, cervical skos:exactMatch MEDGEN:235174 semapv:UnspecifiedMatching MONDO:0008481 spondylosis, cervical skos:exactMatch OMIM:184300 spondylosis, cervical semapv:UnspecifiedMatching MONDO:0008481 spondylosis, cervical skos:exactMatch SCTID:387800004 semapv:UnspecifiedMatching MONDO:0008481 spondylosis, cervical skos:exactMatch UMLS:C1384641 semapv:UnspecifiedMatching MONDO:0008482 Sprengel deformity skos:exactMatch MEDGEN:56291 semapv:UnspecifiedMatching MONDO:0008482 Sprengel deformity skos:exactMatch OMIM:184400 sprengel deformity semapv:UnspecifiedMatching MONDO:0008482 Sprengel deformity skos:exactMatch Orphanet:3181 Sprengel deformity semapv:UnspecifiedMatching MONDO:0008482 Sprengel deformity skos:exactMatch SCTID:79120002 semapv:UnspecifiedMatching MONDO:0008482 Sprengel deformity skos:exactMatch UMLS:C0152438 semapv:UnspecifiedMatching MONDO:0008482 Sprengel deformity skos:exactMatch icd11.foundation:2144522441 Sprengel deformity semapv:UnspecifiedMatching MONDO:0008482 Sprengel deformity skos:exactMatch mesh:C535802 semapv:UnspecifiedMatching MONDO:0008483 stuttering, familial persistent, 1 skos:exactMatch MEDGEN:483580 semapv:UnspecifiedMatching MONDO:0008483 stuttering, familial persistent, 1 skos:exactMatch OMIM:184450 stuttering, familial persistent, 1 semapv:UnspecifiedMatching MONDO:0008483 stuttering, familial persistent, 1 skos:exactMatch UMLS:C3489627 semapv:UnspecifiedMatching MONDO:0008484 stapes ankylosis with broad thumbs and toes skos:exactMatch MEDGEN:357104 semapv:UnspecifiedMatching MONDO:0008484 stapes ankylosis with broad thumbs and toes skos:exactMatch OMIM:184460 stapes ankylosis with broad thumbs and toes semapv:UnspecifiedMatching MONDO:0008484 stapes ankylosis with broad thumbs and toes skos:exactMatch Orphanet:140917 Stapes ankylosis with broad thumbs and toes semapv:UnspecifiedMatching MONDO:0008484 stapes ankylosis with broad thumbs and toes skos:exactMatch SCTID:719305006 semapv:UnspecifiedMatching MONDO:0008484 stapes ankylosis with broad thumbs and toes skos:exactMatch UMLS:C1866656 semapv:UnspecifiedMatching MONDO:0008484 stapes ankylosis with broad thumbs and toes skos:exactMatch icd11.foundation:387089262 Stapes ankylosis with broad thumbs and toes semapv:UnspecifiedMatching MONDO:0008485 sebocystomatosis skos:exactMatch DOID:0111556 steatocystoma multiplex semapv:UnspecifiedMatching MONDO:0008485 sebocystomatosis skos:exactMatch ICD10CM:L72.2 Steatocystoma multiplex semapv:UnspecifiedMatching MONDO:0008485 sebocystomatosis skos:exactMatch MEDGEN:75476 semapv:UnspecifiedMatching MONDO:0008485 sebocystomatosis skos:exactMatch OMIM:184500 steatocystoma multiplex semapv:UnspecifiedMatching MONDO:0008485 sebocystomatosis skos:exactMatch Orphanet:841 Sebocystomatosis semapv:UnspecifiedMatching MONDO:0008485 sebocystomatosis skos:exactMatch SCTID:109433009 semapv:UnspecifiedMatching MONDO:0008485 sebocystomatosis skos:exactMatch UMLS:C0259771 semapv:UnspecifiedMatching MONDO:0008486 steatocystoma multiplex-natal teeth syndrome skos:exactMatch MEDGEN:356586 semapv:UnspecifiedMatching MONDO:0008486 steatocystoma multiplex-natal teeth syndrome skos:exactMatch OMIM:184510 steatocystoma multiplex with natal teeth semapv:UnspecifiedMatching MONDO:0008486 steatocystoma multiplex-natal teeth syndrome skos:exactMatch Orphanet:3184 Steatocystoma multiplex-natal teeth syndrome semapv:UnspecifiedMatching MONDO:0008486 steatocystoma multiplex-natal teeth syndrome skos:exactMatch UMLS:C1866650 semapv:UnspecifiedMatching MONDO:0008486 steatocystoma multiplex-natal teeth syndrome skos:exactMatch mesh:C537487 semapv:UnspecifiedMatching MONDO:0008487 polycystic ovary syndrome skos:exactMatch DOID:11612 polycystic ovary syndrome semapv:UnspecifiedMatching MONDO:0008487 polycystic ovary syndrome skos:exactMatch EFO:0000660 semapv:UnspecifiedMatching MONDO:0008487 polycystic ovary syndrome skos:exactMatch ICD10CM:E28.2 Polycystic ovarian syndrome semapv:UnspecifiedMatching MONDO:0008487 polycystic ovary syndrome skos:exactMatch MEDGEN:10836 semapv:UnspecifiedMatching MONDO:0008487 polycystic ovary syndrome skos:exactMatch NCIT:C26862 Polycystic Ovary Syndrome semapv:UnspecifiedMatching MONDO:0008487 polycystic ovary syndrome skos:exactMatch OMIM:184700 polycystic ovary syndrome 1 semapv:UnspecifiedMatching MONDO:0008487 polycystic ovary syndrome skos:exactMatch SCTID:69878008 semapv:UnspecifiedMatching MONDO:0008487 polycystic ovary syndrome skos:exactMatch UMLS:C0032460 semapv:UnspecifiedMatching MONDO:0008487 polycystic ovary syndrome skos:exactMatch icd11.foundation:1213633323 Polycystic ovary syndrome semapv:UnspecifiedMatching MONDO:0008487 polycystic ovary syndrome skos:exactMatch mesh:D011085 semapv:UnspecifiedMatching MONDO:0008488 holoprosencephaly-radial heart renal anomalies syndrome skos:exactMatch MEDGEN:401047 semapv:UnspecifiedMatching MONDO:0008488 holoprosencephaly-radial heart renal anomalies syndrome skos:exactMatch OMIM:184705 steinfeld syndrome semapv:UnspecifiedMatching MONDO:0008488 holoprosencephaly-radial heart renal anomalies syndrome skos:exactMatch Orphanet:3186 Holoprosencephaly-radial heart renal anomalies syndrome semapv:UnspecifiedMatching MONDO:0008488 holoprosencephaly-radial heart renal anomalies syndrome skos:exactMatch SCTID:716233007 semapv:UnspecifiedMatching MONDO:0008488 holoprosencephaly-radial heart renal anomalies syndrome skos:exactMatch UMLS:C1866649 semapv:UnspecifiedMatching MONDO:0008488 holoprosencephaly-radial heart renal anomalies syndrome skos:exactMatch mesh:C566655 semapv:UnspecifiedMatching MONDO:0008489 sternum, premature obliteration of sutures of skos:exactMatch MEDGEN:396144 semapv:UnspecifiedMatching MONDO:0008489 sternum, premature obliteration of sutures of skos:exactMatch OMIM:184800 sternum, premature obliteration of sutures of semapv:UnspecifiedMatching MONDO:0008489 sternum, premature obliteration of sutures of skos:exactMatch UMLS:C1861485 semapv:UnspecifiedMatching MONDO:0008490 otospondylomegaepiphyseal dysplasia, autosomal dominant skos:exactMatch DOID:0080677 otospondylomegaepiphyseal dysplasia, autosomal dominant semapv:UnspecifiedMatching MONDO:0008490 otospondylomegaepiphyseal dysplasia, autosomal dominant skos:exactMatch DOID:4258 Weissenbacher-Zweymuller syndrome semapv:UnspecifiedMatching MONDO:0008490 otospondylomegaepiphyseal dysplasia, autosomal dominant skos:exactMatch MEDGEN:341234 semapv:UnspecifiedMatching MONDO:0008490 otospondylomegaepiphyseal dysplasia, autosomal dominant skos:exactMatch OMIM:184840 otospondylomegaepiphyseal dysplasia, autosomal dominant semapv:UnspecifiedMatching MONDO:0008490 otospondylomegaepiphyseal dysplasia, autosomal dominant skos:exactMatch Orphanet:166100 Autosomal dominant otospondylomegaepiphyseal dysplasia semapv:UnspecifiedMatching MONDO:0008490 otospondylomegaepiphyseal dysplasia, autosomal dominant skos:exactMatch SCTID:699313003 semapv:UnspecifiedMatching MONDO:0008490 otospondylomegaepiphyseal dysplasia, autosomal dominant skos:exactMatch UMLS:C1848488 semapv:UnspecifiedMatching MONDO:0008490 otospondylomegaepiphyseal dysplasia, autosomal dominant skos:exactMatch mesh:C535776 semapv:UnspecifiedMatching MONDO:0008490 otospondylomegaepiphyseal dysplasia, autosomal dominant skos:exactMatch mesh:C537494 semapv:UnspecifiedMatching MONDO:0008491 stiff-person syndrome skos:exactMatch DOID:13366 Stiff-Person syndrome semapv:UnspecifiedMatching MONDO:0008491 stiff-person syndrome skos:exactMatch EFO:0007498 semapv:UnspecifiedMatching MONDO:0008491 stiff-person syndrome skos:exactMatch ICD10CM:G25.82 Stiff-man syndrome semapv:UnspecifiedMatching MONDO:0008491 stiff-person syndrome skos:exactMatch MEDGEN:39017 semapv:UnspecifiedMatching MONDO:0008491 stiff-person syndrome skos:exactMatch NCIT:C85170 Stiff Person Syndrome semapv:UnspecifiedMatching MONDO:0008491 stiff-person syndrome skos:exactMatch OMIM:184850 stiff-person syndrome semapv:UnspecifiedMatching MONDO:0008491 stiff-person syndrome skos:exactMatch Orphanet:3198 Stiff person spectrum disorder semapv:UnspecifiedMatching MONDO:0008491 stiff-person syndrome skos:exactMatch SCTID:5217008 semapv:UnspecifiedMatching MONDO:0008491 stiff-person syndrome skos:exactMatch UMLS:C0085292 semapv:UnspecifiedMatching MONDO:0008491 stiff-person syndrome skos:exactMatch mesh:D016750 semapv:UnspecifiedMatching MONDO:0008492 stiff skin syndrome skos:exactMatch DOID:0111561 stiff skin syndrome semapv:UnspecifiedMatching MONDO:0008492 stiff skin syndrome skos:exactMatch MEDGEN:348877 semapv:UnspecifiedMatching MONDO:0008492 stiff skin syndrome skos:exactMatch NCIT:C118636 Stiff Skin Syndrome semapv:UnspecifiedMatching MONDO:0008492 stiff skin syndrome skos:exactMatch OMIM:184900 stiff skin syndrome semapv:UnspecifiedMatching MONDO:0008492 stiff skin syndrome skos:exactMatch Orphanet:2833 Stiff skin syndrome semapv:UnspecifiedMatching MONDO:0008492 stiff skin syndrome skos:exactMatch SCTID:765187004 semapv:UnspecifiedMatching MONDO:0008492 stiff skin syndrome skos:exactMatch UMLS:C1861456 semapv:UnspecifiedMatching MONDO:0008492 stiff skin syndrome skos:exactMatch icd11.foundation:642409035 Stiff skin syndrome semapv:UnspecifiedMatching MONDO:0008492 stiff skin syndrome skos:exactMatch mesh:C566112 semapv:UnspecifiedMatching MONDO:0008493 overhydrated hereditary stomatocytosis skos:exactMatch DOID:0111562 overhydrated hereditary stomatocytosis semapv:UnspecifiedMatching MONDO:0008493 overhydrated hereditary stomatocytosis skos:exactMatch MEDGEN:348876 semapv:UnspecifiedMatching MONDO:0008493 overhydrated hereditary stomatocytosis skos:exactMatch OMIM:185000 overhydrated hereditary stomatocytosis semapv:UnspecifiedMatching MONDO:0008493 overhydrated hereditary stomatocytosis skos:exactMatch Orphanet:3203 Overhydrated hereditary stomatocytosis semapv:UnspecifiedMatching MONDO:0008493 overhydrated hereditary stomatocytosis skos:exactMatch SCTID:722125003 semapv:UnspecifiedMatching MONDO:0008493 overhydrated hereditary stomatocytosis skos:exactMatch UMLS:C1861455 semapv:UnspecifiedMatching MONDO:0008493 overhydrated hereditary stomatocytosis skos:exactMatch icd11.foundation:595647587 Overhydrated hereditary stomatocytosis semapv:UnspecifiedMatching MONDO:0008493 overhydrated hereditary stomatocytosis skos:exactMatch mesh:C566111 semapv:UnspecifiedMatching MONDO:0008494 cryohydrocytosis skos:exactMatch MEDGEN:396137 semapv:UnspecifiedMatching MONDO:0008494 cryohydrocytosis skos:exactMatch OMIM:185020 cryohydrocytosis semapv:UnspecifiedMatching MONDO:0008494 cryohydrocytosis skos:exactMatch Orphanet:398088 Hereditary cryohydrocytosis with normal stomatin semapv:UnspecifiedMatching MONDO:0008494 cryohydrocytosis skos:exactMatch UMLS:C1861453 semapv:UnspecifiedMatching MONDO:0008494 cryohydrocytosis skos:exactMatch mesh:C535827 semapv:UnspecifiedMatching MONDO:0008495 platelet storage pool deficiency skos:exactMatch DOID:2223 platelet storage pool deficiency semapv:UnspecifiedMatching MONDO:0008495 platelet storage pool deficiency skos:exactMatch EFO:1001112 semapv:UnspecifiedMatching MONDO:0008495 platelet storage pool deficiency skos:exactMatch MEDGEN:19351 semapv:UnspecifiedMatching MONDO:0008495 platelet storage pool deficiency skos:exactMatch OMIM:185050 storage pool platelet disease semapv:UnspecifiedMatching MONDO:0008495 platelet storage pool deficiency skos:exactMatch Orphanet:734 Alpha delta granule deficiency semapv:UnspecifiedMatching MONDO:0008495 platelet storage pool deficiency skos:exactMatch SCTID:234474009 semapv:UnspecifiedMatching MONDO:0008495 platelet storage pool deficiency skos:exactMatch UMLS:C0032197 semapv:UnspecifiedMatching MONDO:0008495 platelet storage pool deficiency skos:exactMatch mesh:D010981 semapv:UnspecifiedMatching MONDO:0008496 storm syndrome skos:exactMatch MEDGEN:350029 semapv:UnspecifiedMatching MONDO:0008496 storm syndrome skos:exactMatch OMIM:185069 storm syndrome semapv:UnspecifiedMatching MONDO:0008496 storm syndrome skos:exactMatch UMLS:C1861452 semapv:UnspecifiedMatching MONDO:0008496 storm syndrome skos:exactMatch mesh:C566109 semapv:UnspecifiedMatching MONDO:0008497 Stormorken syndrome skos:exactMatch DOID:0060354 Stormorken syndrome semapv:UnspecifiedMatching MONDO:0008497 Stormorken syndrome skos:exactMatch MEDGEN:350028 semapv:UnspecifiedMatching MONDO:0008497 Stormorken syndrome skos:exactMatch OMIM:185070 stormorken syndrome semapv:UnspecifiedMatching MONDO:0008497 Stormorken syndrome skos:exactMatch Orphanet:3204 Stormorken-Sjaastad-Langslet syndrome semapv:UnspecifiedMatching MONDO:0008497 Stormorken syndrome skos:exactMatch SCTID:711407000 semapv:UnspecifiedMatching MONDO:0008497 Stormorken syndrome skos:exactMatch UMLS:C1861451 semapv:UnspecifiedMatching MONDO:0008497 Stormorken syndrome skos:exactMatch mesh:C566108 semapv:UnspecifiedMatching MONDO:0008498 strabismus, susceptibility to skos:exactMatch MEDGEN:350026 semapv:UnspecifiedMatching MONDO:0008498 strabismus, susceptibility to skos:exactMatch OMIM:185100 strabismus, susceptibility to semapv:UnspecifiedMatching MONDO:0008498 strabismus, susceptibility to skos:exactMatch UMLS:C1861449 semapv:UnspecifiedMatching MONDO:0008499 short stature-wormian bones-dextrocardia syndrome skos:exactMatch MEDGEN:350025 semapv:UnspecifiedMatching MONDO:0008499 short stature-wormian bones-dextrocardia syndrome skos:exactMatch OMIM:185120 stratton-parker syndrome semapv:UnspecifiedMatching MONDO:0008499 short stature-wormian bones-dextrocardia syndrome skos:exactMatch Orphanet:2863 Short stature-wormian bones-dextrocardia syndrome semapv:UnspecifiedMatching MONDO:0008499 short stature-wormian bones-dextrocardia syndrome skos:exactMatch SCTID:763631006 semapv:UnspecifiedMatching MONDO:0008499 short stature-wormian bones-dextrocardia syndrome skos:exactMatch UMLS:C1861448 semapv:UnspecifiedMatching MONDO:0008499 short stature-wormian bones-dextrocardia syndrome skos:exactMatch mesh:C566105 semapv:UnspecifiedMatching MONDO:0008500 striae distensae, familial skos:exactMatch MEDGEN:348875 semapv:UnspecifiedMatching MONDO:0008500 striae distensae, familial skos:exactMatch OMIM:185200 striae distensae, familial semapv:UnspecifiedMatching MONDO:0008500 striae distensae, familial skos:exactMatch UMLS:C1861447 semapv:UnspecifiedMatching MONDO:0008500 striae distensae, familial skos:exactMatch mesh:C566104 semapv:UnspecifiedMatching MONDO:0008501 Sturge-Weber syndrome skos:exactMatch DOID:0111563 Sturge-Weber syndrome semapv:UnspecifiedMatching MONDO:0008501 Sturge-Weber syndrome skos:exactMatch MEDGEN:21361 semapv:UnspecifiedMatching MONDO:0008501 Sturge-Weber syndrome skos:exactMatch NCIT:C3391 Sturge-Weber Syndrome semapv:UnspecifiedMatching MONDO:0008501 Sturge-Weber syndrome skos:exactMatch OMIM:185300 sturge-weber syndrome semapv:UnspecifiedMatching MONDO:0008501 Sturge-Weber syndrome skos:exactMatch Orphanet:3205 Sturge-Weber syndrome semapv:UnspecifiedMatching MONDO:0008501 Sturge-Weber syndrome skos:exactMatch SCTID:19886006 semapv:UnspecifiedMatching MONDO:0008501 Sturge-Weber syndrome skos:exactMatch UMLS:C0038505 semapv:UnspecifiedMatching MONDO:0008501 Sturge-Weber syndrome skos:exactMatch icd11.foundation:1173035836 Sturge-Weber syndrome semapv:UnspecifiedMatching MONDO:0008501 Sturge-Weber syndrome skos:exactMatch mesh:D013341 semapv:UnspecifiedMatching MONDO:0008502 sulfhemoglobinemia, congenital skos:exactMatch MEDGEN:350024 semapv:UnspecifiedMatching MONDO:0008502 sulfhemoglobinemia, congenital skos:exactMatch OMIM:185460 sulfhemoglobinemia, congenital semapv:UnspecifiedMatching MONDO:0008502 sulfhemoglobinemia, congenital skos:exactMatch UMLS:C1861437 semapv:UnspecifiedMatching MONDO:0008502 sulfhemoglobinemia, congenital skos:exactMatch mesh:C566102 semapv:UnspecifiedMatching MONDO:0008503 Worster-Drought syndrome skos:exactMatch MEDGEN:163228 semapv:UnspecifiedMatching MONDO:0008503 Worster-Drought syndrome skos:exactMatch OMIM:185480 suprabulbar paresis, congenital semapv:UnspecifiedMatching MONDO:0008503 Worster-Drought syndrome skos:exactMatch Orphanet:3465 Worster-Drought syndrome semapv:UnspecifiedMatching MONDO:0008503 Worster-Drought syndrome skos:exactMatch SCTID:716335003 semapv:UnspecifiedMatching MONDO:0008503 Worster-Drought syndrome skos:exactMatch UMLS:C0796204 semapv:UnspecifiedMatching MONDO:0008503 Worster-Drought syndrome skos:exactMatch icd11.foundation:1834138618 Worster-Drought syndrome semapv:UnspecifiedMatching MONDO:0008503 Worster-Drought syndrome skos:exactMatch mesh:C536747 semapv:UnspecifiedMatching MONDO:0008504 supravalvular aortic stenosis skos:exactMatch DOID:1929 supravalvular aortic stenosis semapv:UnspecifiedMatching MONDO:0008504 supravalvular aortic stenosis skos:exactMatch ICD10CM:Q25.3 Supravalvular aortic stenosis semapv:UnspecifiedMatching MONDO:0008504 supravalvular aortic stenosis skos:exactMatch MEDGEN:2001 semapv:UnspecifiedMatching MONDO:0008504 supravalvular aortic stenosis skos:exactMatch NCIT:C85176 Supravalvular Aortic Stenosis semapv:UnspecifiedMatching MONDO:0008504 supravalvular aortic stenosis skos:exactMatch OMIM:185500 supravalvular aortic stenosis semapv:UnspecifiedMatching MONDO:0008504 supravalvular aortic stenosis skos:exactMatch Orphanet:3193 Supravalvular aortic stenosis semapv:UnspecifiedMatching MONDO:0008504 supravalvular aortic stenosis skos:exactMatch SCTID:268185002 semapv:UnspecifiedMatching MONDO:0008504 supravalvular aortic stenosis skos:exactMatch UMLS:C0003499 semapv:UnspecifiedMatching MONDO:0008504 supravalvular aortic stenosis skos:exactMatch icd11.foundation:1066595728 Congenital supravalvar aortic stenosis semapv:UnspecifiedMatching MONDO:0008505 surface antigen, glycoprotein 75 skos:exactMatch MEDGEN:396130 semapv:UnspecifiedMatching MONDO:0008505 surface antigen, glycoprotein 75 skos:exactMatch OMIM:185540 surface antigen, glycoprotein 75 semapv:UnspecifiedMatching MONDO:0008505 surface antigen, glycoprotein 75 skos:exactMatch UMLS:C1861423 semapv:UnspecifiedMatching MONDO:0008506 symphalangism of toes skos:exactMatch MEDGEN:396129 semapv:UnspecifiedMatching MONDO:0008506 symphalangism of toes skos:exactMatch OMIM:185600 symphalangism of toes semapv:UnspecifiedMatching MONDO:0008506 symphalangism of toes skos:exactMatch UMLS:C1861418 semapv:UnspecifiedMatching MONDO:0008506 symphalangism of toes skos:exactMatch mesh:C566101 semapv:UnspecifiedMatching MONDO:0008507 surface polypeptides, anonymous skos:exactMatch MEDGEN:348354 semapv:UnspecifiedMatching MONDO:0008507 surface polypeptides, anonymous skos:exactMatch OMIM:185610 surface polypeptides, anonymous semapv:UnspecifiedMatching MONDO:0008507 surface polypeptides, anonymous skos:exactMatch UMLS:C1861417 semapv:UnspecifiedMatching MONDO:0008508 symphalangism, C. S. Lewis type skos:exactMatch MEDGEN:396126 semapv:UnspecifiedMatching MONDO:0008508 symphalangism, C. S. Lewis type skos:exactMatch OMIM:185650 symphalangism, c. s. lewis type semapv:UnspecifiedMatching MONDO:0008508 symphalangism, C. S. Lewis type skos:exactMatch UMLS:C1861404 semapv:UnspecifiedMatching MONDO:0008508 symphalangism, C. S. Lewis type skos:exactMatch mesh:C566100 semapv:UnspecifiedMatching MONDO:0008509 distal symphalangism skos:exactMatch MEDGEN:350018 semapv:UnspecifiedMatching MONDO:0008509 distal symphalangism skos:exactMatch OMIM:185700 symphalangism, distal semapv:UnspecifiedMatching MONDO:0008509 distal symphalangism skos:exactMatch Orphanet:3248 Isolated distal symphalangism semapv:UnspecifiedMatching MONDO:0008509 distal symphalangism skos:exactMatch UMLS:C1861401 semapv:UnspecifiedMatching MONDO:0008509 distal symphalangism skos:exactMatch icd11.foundation:1737945585 Distal symphalangism semapv:UnspecifiedMatching MONDO:0008509 distal symphalangism skos:exactMatch mesh:C566099 semapv:UnspecifiedMatching MONDO:0008510 symphalangism with multiple anomalies of hands and feet skos:exactMatch MEDGEN:348859 semapv:UnspecifiedMatching MONDO:0008510 symphalangism with multiple anomalies of hands and feet skos:exactMatch OMIM:185750 symphalangism with multiple anomalies of hands and feet semapv:UnspecifiedMatching MONDO:0008510 symphalangism with multiple anomalies of hands and feet skos:exactMatch Orphanet:3246 Symphalangism with multiple anomalies of hands and feet semapv:UnspecifiedMatching MONDO:0008510 symphalangism with multiple anomalies of hands and feet skos:exactMatch SCTID:732955001 semapv:UnspecifiedMatching MONDO:0008510 symphalangism with multiple anomalies of hands and feet skos:exactMatch UMLS:C1861391 semapv:UnspecifiedMatching MONDO:0008510 symphalangism with multiple anomalies of hands and feet skos:exactMatch mesh:C566098 semapv:UnspecifiedMatching MONDO:0008511 proximal symphalangism skos:exactMatch DOID:0050788 proximal symphalangism semapv:UnspecifiedMatching MONDO:0008511 proximal symphalangism skos:exactMatch MEDGEN:348856 semapv:UnspecifiedMatching MONDO:0008511 proximal symphalangism skos:exactMatch OMIMPS:185800 Proximal symphalangism semapv:UnspecifiedMatching MONDO:0008511 proximal symphalangism skos:exactMatch Orphanet:3250 Proximal symphalangism semapv:UnspecifiedMatching MONDO:0008511 proximal symphalangism skos:exactMatch UMLS:C1861385 semapv:UnspecifiedMatching MONDO:0008511 proximal symphalangism skos:exactMatch icd11.foundation:49802338 Proximal symphalangism semapv:UnspecifiedMatching MONDO:0008511 proximal symphalangism skos:exactMatch mesh:C536223 semapv:UnspecifiedMatching MONDO:0008512 syndactyly type 1 skos:exactMatch DOID:0111816 syndactyly type 1 semapv:UnspecifiedMatching MONDO:0008512 syndactyly type 1 skos:exactMatch MEDGEN:348343 semapv:UnspecifiedMatching MONDO:0008512 syndactyly type 1 skos:exactMatch OMIM:185900 chromosome 2q35 duplication syndrome semapv:UnspecifiedMatching MONDO:0008512 syndactyly type 1 skos:exactMatch Orphanet:93402 Syndactyly type 1 semapv:UnspecifiedMatching MONDO:0008512 syndactyly type 1 skos:exactMatch SCTID:715723008 semapv:UnspecifiedMatching MONDO:0008512 syndactyly type 1 skos:exactMatch UMLS:C1861380 semapv:UnspecifiedMatching MONDO:0008512 syndactyly type 1 skos:exactMatch icd11.foundation:1841508645 Syndactyly type 1 semapv:UnspecifiedMatching MONDO:0008513 synpolydactyly type 1 skos:exactMatch MEDGEN:1809573 semapv:UnspecifiedMatching MONDO:0008513 synpolydactyly type 1 skos:exactMatch OMIM:186000 synpolydactyly 1 semapv:UnspecifiedMatching MONDO:0008513 synpolydactyly type 1 skos:exactMatch Orphanet:295195 Synpolydactyly type 1 semapv:UnspecifiedMatching MONDO:0008513 synpolydactyly type 1 skos:exactMatch UMLS:C5574994 semapv:UnspecifiedMatching MONDO:0008513 synpolydactyly type 1 skos:exactMatch icd11.foundation:1701170393 Synpolydactyly type 1 semapv:UnspecifiedMatching MONDO:0008514 syndactyly type 3 skos:exactMatch DOID:0111817 syndactyly type 3 semapv:UnspecifiedMatching MONDO:0008514 syndactyly type 3 skos:exactMatch MEDGEN:396117 semapv:UnspecifiedMatching MONDO:0008514 syndactyly type 3 skos:exactMatch OMIM:186100 syndactyly, type 3 semapv:UnspecifiedMatching MONDO:0008514 syndactyly type 3 skos:exactMatch Orphanet:93404 Syndactyly type 3 semapv:UnspecifiedMatching MONDO:0008514 syndactyly type 3 skos:exactMatch SCTID:715725001 semapv:UnspecifiedMatching MONDO:0008514 syndactyly type 3 skos:exactMatch UMLS:C1861366 semapv:UnspecifiedMatching MONDO:0008514 syndactyly type 3 skos:exactMatch icd11.foundation:144846004 Syndactyly type 3 semapv:UnspecifiedMatching MONDO:0008514 syndactyly type 3 skos:exactMatch mesh:C538154 semapv:UnspecifiedMatching MONDO:0008515 syndactyly type 4 skos:exactMatch DOID:0111818 syndactyly type 4 semapv:UnspecifiedMatching MONDO:0008515 syndactyly type 4 skos:exactMatch MEDGEN:350013 semapv:UnspecifiedMatching MONDO:0008515 syndactyly type 4 skos:exactMatch OMIM:186200 syndactyly, type 4 semapv:UnspecifiedMatching MONDO:0008515 syndactyly type 4 skos:exactMatch Orphanet:93405 Syndactyly type 4 semapv:UnspecifiedMatching MONDO:0008515 syndactyly type 4 skos:exactMatch SCTID:719158007 semapv:UnspecifiedMatching MONDO:0008515 syndactyly type 4 skos:exactMatch UMLS:C1861355 semapv:UnspecifiedMatching MONDO:0008515 syndactyly type 4 skos:exactMatch icd11.foundation:75755208 Syndactyly type 4 semapv:UnspecifiedMatching MONDO:0008515 syndactyly type 4 skos:exactMatch mesh:C566092 semapv:UnspecifiedMatching MONDO:0008516 syndactyly type 5 skos:exactMatch DOID:0111819 syndactyly type 5 semapv:UnspecifiedMatching MONDO:0008516 syndactyly type 5 skos:exactMatch MEDGEN:350010 semapv:UnspecifiedMatching MONDO:0008516 syndactyly type 5 skos:exactMatch OMIM:186300 syndactyly, type 5 semapv:UnspecifiedMatching MONDO:0008516 syndactyly type 5 skos:exactMatch Orphanet:93406 Syndactyly type 5 semapv:UnspecifiedMatching MONDO:0008516 syndactyly type 5 skos:exactMatch SCTID:719159004 semapv:UnspecifiedMatching MONDO:0008516 syndactyly type 5 skos:exactMatch UMLS:C1861348 semapv:UnspecifiedMatching MONDO:0008516 syndactyly type 5 skos:exactMatch icd11.foundation:283224140 Syndactyly type 5 semapv:UnspecifiedMatching MONDO:0008516 syndactyly type 5 skos:exactMatch mesh:C538155 semapv:UnspecifiedMatching MONDO:0008517 syndactyly-polydactyly-ear lobe syndrome skos:exactMatch MEDGEN:348333 semapv:UnspecifiedMatching MONDO:0008517 syndactyly-polydactyly-ear lobe syndrome skos:exactMatch OMIM:186350 syndactyly-polydactyly-earlobe syndrome semapv:UnspecifiedMatching MONDO:0008517 syndactyly-polydactyly-ear lobe syndrome skos:exactMatch Orphanet:3259 Syndactyly-polydactyly-ear lobe syndrome semapv:UnspecifiedMatching MONDO:0008517 syndactyly-polydactyly-ear lobe syndrome skos:exactMatch UMLS:C1861347 semapv:UnspecifiedMatching MONDO:0008517 syndactyly-polydactyly-ear lobe syndrome skos:exactMatch mesh:C566091 semapv:UnspecifiedMatching MONDO:0008518 calcaneonavicular coalition skos:exactMatch DOID:14762 calcaneonavicular coalition semapv:UnspecifiedMatching MONDO:0008518 calcaneonavicular coalition skos:exactMatch MEDGEN:360296 semapv:UnspecifiedMatching MONDO:0008518 calcaneonavicular coalition skos:exactMatch OMIM:186400 synostoses, tarsal, carpal, and digital semapv:UnspecifiedMatching MONDO:0008518 calcaneonavicular coalition skos:exactMatch SCTID:62628008 semapv:UnspecifiedMatching MONDO:0008518 calcaneonavicular coalition skos:exactMatch UMLS:C1876184 semapv:UnspecifiedMatching MONDO:0008518 calcaneonavicular coalition skos:exactMatch mesh:C538156 semapv:UnspecifiedMatching MONDO:0008519 multiple synostoses syndrome 1 skos:exactMatch DOID:0081317 multiple synostoses syndrome 1 semapv:UnspecifiedMatching MONDO:0008519 multiple synostoses syndrome 1 skos:exactMatch MEDGEN:90977 semapv:UnspecifiedMatching MONDO:0008519 multiple synostoses syndrome 1 skos:exactMatch OMIM:186500 multiple synostoses syndrome 1 semapv:UnspecifiedMatching MONDO:0008519 multiple synostoses syndrome 1 skos:exactMatch UMLS:C0342282 semapv:UnspecifiedMatching MONDO:0008520 brachydactyly-elbow wrist dysplasia syndrome skos:exactMatch MEDGEN:396103 semapv:UnspecifiedMatching MONDO:0008520 brachydactyly-elbow wrist dysplasia syndrome skos:exactMatch OMIM:186550 liebenberg syndrome semapv:UnspecifiedMatching MONDO:0008520 brachydactyly-elbow wrist dysplasia syndrome skos:exactMatch Orphanet:1275 Brachydactyly-elbow wrist dysplasia syndrome semapv:UnspecifiedMatching MONDO:0008520 brachydactyly-elbow wrist dysplasia syndrome skos:exactMatch SCTID:764437006 semapv:UnspecifiedMatching MONDO:0008520 brachydactyly-elbow wrist dysplasia syndrome skos:exactMatch UMLS:C1861313 semapv:UnspecifiedMatching MONDO:0008520 brachydactyly-elbow wrist dysplasia syndrome skos:exactMatch mesh:C566090 semapv:UnspecifiedMatching MONDO:0008521 tarsal-carpal coalition syndrome skos:exactMatch DOID:0050789 tarsal-carpal coalition syndrome semapv:UnspecifiedMatching MONDO:0008521 tarsal-carpal coalition syndrome skos:exactMatch MEDGEN:348322 semapv:UnspecifiedMatching MONDO:0008521 tarsal-carpal coalition syndrome skos:exactMatch OMIM:186570 tarsal-carpal coalition syndrome semapv:UnspecifiedMatching MONDO:0008521 tarsal-carpal coalition syndrome skos:exactMatch Orphanet:1412 Tarsal-carpal coalition syndrome semapv:UnspecifiedMatching MONDO:0008521 tarsal-carpal coalition syndrome skos:exactMatch SCTID:702312009 semapv:UnspecifiedMatching MONDO:0008521 tarsal-carpal coalition syndrome skos:exactMatch UMLS:C1861305 semapv:UnspecifiedMatching MONDO:0008521 tarsal-carpal coalition syndrome skos:exactMatch icd11.foundation:1118132902 Tarsal-carpal coalition syndrome semapv:UnspecifiedMatching MONDO:0008522 synovial chondromatosis, familial, with dwarfism skos:exactMatch MEDGEN:348836 semapv:UnspecifiedMatching MONDO:0008522 synovial chondromatosis, familial, with dwarfism skos:exactMatch OMIM:186575 synovial chondromatosis, familial, with dwarfism semapv:UnspecifiedMatching MONDO:0008522 synovial chondromatosis, familial, with dwarfism skos:exactMatch UMLS:C1861304 semapv:UnspecifiedMatching MONDO:0008522 synovial chondromatosis, familial, with dwarfism skos:exactMatch mesh:C566087 semapv:UnspecifiedMatching MONDO:0008523 Blau syndrome skos:exactMatch DOID:0050678 Blau syndrome semapv:UnspecifiedMatching MONDO:0008523 Blau syndrome skos:exactMatch MEDGEN:1684759 semapv:UnspecifiedMatching MONDO:0008523 Blau syndrome skos:exactMatch NCIT:C116794 Blau Syndrome semapv:UnspecifiedMatching MONDO:0008523 Blau syndrome skos:exactMatch OMIM:186580 blau syndrome semapv:UnspecifiedMatching MONDO:0008523 Blau syndrome skos:exactMatch Orphanet:90340 Blau syndrome semapv:UnspecifiedMatching MONDO:0008523 Blau syndrome skos:exactMatch SCTID:699861000 semapv:UnspecifiedMatching MONDO:0008523 Blau syndrome skos:exactMatch UMLS:C5201146 semapv:UnspecifiedMatching MONDO:0008523 Blau syndrome skos:exactMatch icd11.foundation:382488319 Blau syndrome semapv:UnspecifiedMatching MONDO:0008523 Blau syndrome skos:exactMatch mesh:C538157 semapv:UnspecifiedMatching MONDO:0008524 syringomas, multiple skos:exactMatch MEDGEN:348321 semapv:UnspecifiedMatching MONDO:0008524 syringomas, multiple skos:exactMatch OMIM:186600 syringomas, multiple semapv:UnspecifiedMatching MONDO:0008524 syringomas, multiple skos:exactMatch UMLS:C1861302 semapv:UnspecifiedMatching MONDO:0008524 syringomas, multiple skos:exactMatch mesh:C566085 semapv:UnspecifiedMatching MONDO:0008525 syringomyelia, isolated skos:exactMatch MEDGEN:1622554 semapv:UnspecifiedMatching MONDO:0008525 syringomyelia, isolated skos:exactMatch OMIM:186700 syringomyelia, noncommunicating isolated semapv:UnspecifiedMatching MONDO:0008525 syringomyelia, isolated skos:exactMatch UMLS:C4538540 semapv:UnspecifiedMatching MONDO:0008525 syringomyelia, isolated skos:exactMatch mesh:C566084 semapv:UnspecifiedMatching MONDO:0008526 talonavicular coalition skos:exactMatch MEDGEN:350002 semapv:UnspecifiedMatching MONDO:0008526 talonavicular coalition skos:exactMatch OMIM:186750 talonavicular coalition semapv:UnspecifiedMatching MONDO:0008526 talonavicular coalition skos:exactMatch UMLS:C1861296 semapv:UnspecifiedMatching MONDO:0008526 talonavicular coalition skos:exactMatch mesh:C536895 semapv:UnspecifiedMatching MONDO:0008527 tarsal coalition skos:exactMatch MEDGEN:539393 semapv:UnspecifiedMatching MONDO:0008527 tarsal coalition skos:exactMatch OMIM:186850 tarsal coalition semapv:UnspecifiedMatching MONDO:0008527 tarsal coalition skos:exactMatch SCTID:27173008 semapv:UnspecifiedMatching MONDO:0008527 tarsal coalition skos:exactMatch UMLS:C0265654 semapv:UnspecifiedMatching MONDO:0008527 tarsal coalition skos:exactMatch mesh:D000070604 semapv:UnspecifiedMatching MONDO:0008528 tear protein, anodal skos:exactMatch MEDGEN:348829 semapv:UnspecifiedMatching MONDO:0008528 tear protein, anodal skos:exactMatch OMIM:186890 tear protein, anodal semapv:UnspecifiedMatching MONDO:0008528 tear protein, anodal skos:exactMatch UMLS:C1861283 semapv:UnspecifiedMatching MONDO:0008529 T-cell Subgroups, non-HLA-linked skos:exactMatch MEDGEN:348312 semapv:UnspecifiedMatching MONDO:0008529 T-cell Subgroups, non-HLA-linked skos:exactMatch OMIM:186950 t-cell subgroups, non-hla-linked semapv:UnspecifiedMatching MONDO:0008529 T-cell Subgroups, non-HLA-linked skos:exactMatch UMLS:C1861277 semapv:UnspecifiedMatching MONDO:0008530 teeth, odd shapes of skos:exactMatch MEDGEN:396097 semapv:UnspecifiedMatching MONDO:0008530 teeth, odd shapes of skos:exactMatch OMIM:187000 teeth, odd shapes of semapv:UnspecifiedMatching MONDO:0008530 teeth, odd shapes of skos:exactMatch UMLS:C1861274 semapv:UnspecifiedMatching MONDO:0008530 teeth, odd shapes of skos:exactMatch mesh:C566076 semapv:UnspecifiedMatching MONDO:0008531 obsolete T-complex locus TCP10B skos:exactMatch OMIM:187030 t-complex locus TCP10B semapv:UnspecifiedMatching MONDO:0008532 teeth present at birth skos:exactMatch MEDGEN:10268 semapv:UnspecifiedMatching MONDO:0008532 teeth present at birth skos:exactMatch OMIM:187050 teeth present at birth semapv:UnspecifiedMatching MONDO:0008532 teeth present at birth skos:exactMatch SCTID:21995002 semapv:UnspecifiedMatching MONDO:0008532 teeth present at birth skos:exactMatch UMLS:C0027443 semapv:UnspecifiedMatching MONDO:0008533 teeth, supernumerary skos:exactMatch ICD10CM:K00.1 Supernumerary teeth semapv:UnspecifiedMatching MONDO:0008533 teeth, supernumerary skos:exactMatch MEDGEN:21210 semapv:UnspecifiedMatching MONDO:0008533 teeth, supernumerary skos:exactMatch OMIM:187100 teeth, supernumerary semapv:UnspecifiedMatching MONDO:0008533 teeth, supernumerary skos:exactMatch SCTID:8666004 semapv:UnspecifiedMatching MONDO:0008533 teeth, supernumerary skos:exactMatch UMLS:C0040457 semapv:UnspecifiedMatching MONDO:0008533 teeth, supernumerary skos:exactMatch mesh:D014096 semapv:UnspecifiedMatching MONDO:0008534 generalized essential telangiectasia skos:exactMatch MEDGEN:140803 semapv:UnspecifiedMatching MONDO:0008534 generalized essential telangiectasia skos:exactMatch OMIM:187260 telangiectasia, hereditary benign semapv:UnspecifiedMatching MONDO:0008534 generalized essential telangiectasia skos:exactMatch Orphanet:280774 Generalized essential telangiectasia semapv:UnspecifiedMatching MONDO:0008534 generalized essential telangiectasia skos:exactMatch SCTID:238763007 semapv:UnspecifiedMatching MONDO:0008534 generalized essential telangiectasia skos:exactMatch UMLS:C0406502 semapv:UnspecifiedMatching MONDO:0008534 generalized essential telangiectasia skos:exactMatch icd11.foundation:236046211 Generalised essential telangiectasia semapv:UnspecifiedMatching MONDO:0008535 telangiectasia, hereditary hemorrhagic, type 1 skos:exactMatch MEDGEN:1643786 semapv:UnspecifiedMatching MONDO:0008535 telangiectasia, hereditary hemorrhagic, type 1 skos:exactMatch OMIM:187300 telangiectasia, hereditary hemorrhagic, type 1 semapv:UnspecifiedMatching MONDO:0008535 telangiectasia, hereditary hemorrhagic, type 1 skos:exactMatch UMLS:C4551861 semapv:UnspecifiedMatching MONDO:0008536 temperature-sensitive lethal mutation skos:exactMatch MEDGEN:396088 semapv:UnspecifiedMatching MONDO:0008536 temperature-sensitive lethal mutation skos:exactMatch OMIM:187340 temperature-sensitive lethal mutation semapv:UnspecifiedMatching MONDO:0008536 temperature-sensitive lethal mutation skos:exactMatch UMLS:C1861242 semapv:UnspecifiedMatching MONDO:0008537 telecanthus skos:exactMatch MEDGEN:140836 semapv:UnspecifiedMatching MONDO:0008537 telecanthus skos:exactMatch OMIM:187350 telecanthus semapv:UnspecifiedMatching MONDO:0008537 telecanthus skos:exactMatch Orphanet:98575 Syndromic telecanthus semapv:UnspecifiedMatching MONDO:0008537 telecanthus skos:exactMatch UMLS:C0423113 semapv:UnspecifiedMatching MONDO:0008537 telecanthus skos:exactMatch icd11.foundation:210416501 Telecanthus semapv:UnspecifiedMatching MONDO:0008537 telecanthus skos:exactMatch mesh:C562941 semapv:UnspecifiedMatching MONDO:0008538 temporal arteritis skos:exactMatch DOID:13375 temporal arteritis semapv:UnspecifiedMatching MONDO:0008538 temporal arteritis skos:exactMatch EFO:1001209 semapv:UnspecifiedMatching MONDO:0008538 temporal arteritis skos:exactMatch MEDGEN:365495 semapv:UnspecifiedMatching MONDO:0008538 temporal arteritis skos:exactMatch NCIT:C35065 Temporal Arteritis semapv:UnspecifiedMatching MONDO:0008538 temporal arteritis skos:exactMatch OMIM:187360 temporal arteritis semapv:UnspecifiedMatching MONDO:0008538 temporal arteritis skos:exactMatch Orphanet:397 Giant cell arteritis semapv:UnspecifiedMatching MONDO:0008538 temporal arteritis skos:exactMatch SCTID:400130008 semapv:UnspecifiedMatching MONDO:0008538 temporal arteritis skos:exactMatch UMLS:C1956391 semapv:UnspecifiedMatching MONDO:0008538 temporal arteritis skos:exactMatch icd11.foundation:1929970386 Giant cell arteritis semapv:UnspecifiedMatching MONDO:0008540 extensor tendons of finger anomalies skos:exactMatch MEDGEN:348302 semapv:UnspecifiedMatching MONDO:0008540 extensor tendons of finger anomalies skos:exactMatch OMIM:187390 tendons, extensor, of fingers, anomalous insertion of semapv:UnspecifiedMatching MONDO:0008540 extensor tendons of finger anomalies skos:exactMatch Orphanet:3294 Extensor tendons of finger anomalies semapv:UnspecifiedMatching MONDO:0008540 extensor tendons of finger anomalies skos:exactMatch UMLS:C1861237 semapv:UnspecifiedMatching MONDO:0008540 extensor tendons of finger anomalies skos:exactMatch mesh:C566068 semapv:UnspecifiedMatching MONDO:0008541 spermatic cord torsion skos:exactMatch DOID:11996 spermatic cord torsion semapv:UnspecifiedMatching MONDO:0008541 spermatic cord torsion skos:exactMatch ICD10CM:N44.0 Torsion of testis semapv:UnspecifiedMatching MONDO:0008541 spermatic cord torsion skos:exactMatch MEDGEN:52446 semapv:UnspecifiedMatching MONDO:0008541 spermatic cord torsion skos:exactMatch NCIT:C26885 Testicular Torsion semapv:UnspecifiedMatching MONDO:0008541 spermatic cord torsion skos:exactMatch OMIM:187400 testicular torsion semapv:UnspecifiedMatching MONDO:0008541 spermatic cord torsion skos:exactMatch SCTID:81996005 semapv:UnspecifiedMatching MONDO:0008541 spermatic cord torsion skos:exactMatch UMLS:C0037856 semapv:UnspecifiedMatching MONDO:0008541 spermatic cord torsion skos:exactMatch mesh:D013086 semapv:UnspecifiedMatching MONDO:0008542 tetralogy of fallot skos:exactMatch DOID:6419 tetralogy of Fallot semapv:UnspecifiedMatching MONDO:0008542 tetralogy of fallot skos:exactMatch ICD10CM:Q21.3 Tetralogy of Fallot semapv:UnspecifiedMatching MONDO:0008542 tetralogy of fallot skos:exactMatch MEDGEN:21498 semapv:UnspecifiedMatching MONDO:0008542 tetralogy of fallot skos:exactMatch NCIT:C84505 Tetralogy of Fallot semapv:UnspecifiedMatching MONDO:0008542 tetralogy of fallot skos:exactMatch OMIM:187500 tetralogy of fallot semapv:UnspecifiedMatching MONDO:0008542 tetralogy of fallot skos:exactMatch Orphanet:3303 Tetralogy of Fallot semapv:UnspecifiedMatching MONDO:0008542 tetralogy of fallot skos:exactMatch SCTID:86299006 semapv:UnspecifiedMatching MONDO:0008542 tetralogy of fallot skos:exactMatch UMLS:C0039685 semapv:UnspecifiedMatching MONDO:0008542 tetralogy of fallot skos:exactMatch icd11.foundation:90973426 Tetralogy of Fallot semapv:UnspecifiedMatching MONDO:0008542 tetralogy of fallot skos:exactMatch mesh:D013771 semapv:UnspecifiedMatching MONDO:0008543 tetralogy of fallot and glaucoma skos:exactMatch MEDGEN:396086 semapv:UnspecifiedMatching MONDO:0008543 tetralogy of fallot and glaucoma skos:exactMatch OMIM:187501 tetralogy of fallot and glaucoma semapv:UnspecifiedMatching MONDO:0008543 tetralogy of fallot and glaucoma skos:exactMatch UMLS:C1861234 semapv:UnspecifiedMatching MONDO:0008543 tetralogy of fallot and glaucoma skos:exactMatch mesh:C536501 semapv:UnspecifiedMatching MONDO:0008544 tetramelic monodactyly skos:exactMatch MEDGEN:349989 semapv:UnspecifiedMatching MONDO:0008544 tetramelic monodactyly skos:exactMatch OMIM:187510 tetramelic monodactyly semapv:UnspecifiedMatching MONDO:0008544 tetramelic monodactyly skos:exactMatch Orphanet:2564 Tetramelic monodactyly semapv:UnspecifiedMatching MONDO:0008544 tetramelic monodactyly skos:exactMatch UMLS:C1861233 semapv:UnspecifiedMatching MONDO:0008544 tetramelic monodactyly skos:exactMatch mesh:C566066 semapv:UnspecifiedMatching MONDO:0008545 thalassemia, beta+, silent allele skos:exactMatch MEDGEN:349988 semapv:UnspecifiedMatching MONDO:0008545 thalassemia, beta+, silent allele skos:exactMatch OMIM:187550 thalassemia, beta+, silent allele semapv:UnspecifiedMatching MONDO:0008545 thalassemia, beta+, silent allele skos:exactMatch UMLS:C1861232 semapv:UnspecifiedMatching MONDO:0008545 thalassemia, beta+, silent allele skos:exactMatch mesh:C566065 semapv:UnspecifiedMatching MONDO:0008546 thanatophoric dysplasia type 1 skos:exactMatch MEDGEN:358383 semapv:UnspecifiedMatching MONDO:0008546 thanatophoric dysplasia type 1 skos:exactMatch NCIT:C98583 Type 1 Thanatophoric Dysplasia semapv:UnspecifiedMatching MONDO:0008546 thanatophoric dysplasia type 1 skos:exactMatch OMIM:187600 thanatophoric dysplasia, type 1 semapv:UnspecifiedMatching MONDO:0008546 thanatophoric dysplasia type 1 skos:exactMatch Orphanet:1860 Thanatophoric dysplasia type 1 semapv:UnspecifiedMatching MONDO:0008546 thanatophoric dysplasia type 1 skos:exactMatch UMLS:C1868678 semapv:UnspecifiedMatching MONDO:0008547 thanatophoric dysplasia type 2 skos:exactMatch MEDGEN:226975 semapv:UnspecifiedMatching MONDO:0008547 thanatophoric dysplasia type 2 skos:exactMatch NCIT:C98584 Type 2 Thanatophoric Dysplasia semapv:UnspecifiedMatching MONDO:0008547 thanatophoric dysplasia type 2 skos:exactMatch OMIM:187601 thanatophoric dysplasia, type 2 semapv:UnspecifiedMatching MONDO:0008547 thanatophoric dysplasia type 2 skos:exactMatch Orphanet:93274 Thanatophoric dysplasia type 2 semapv:UnspecifiedMatching MONDO:0008547 thanatophoric dysplasia type 2 skos:exactMatch SCTID:389158007 semapv:UnspecifiedMatching MONDO:0008547 thanatophoric dysplasia type 2 skos:exactMatch UMLS:C1300257 semapv:UnspecifiedMatching MONDO:0008547 thanatophoric dysplasia type 2 skos:exactMatch mesh:C536508 semapv:UnspecifiedMatching MONDO:0008548 obsolete theophylline Biotransformation skos:exactMatch OMIM:187650 theophylline biotransformation semapv:UnspecifiedMatching MONDO:0008549 thoracic dysostosis, isolated skos:exactMatch mesh:C566063 semapv:UnspecifiedMatching MONDO:0008551 thoracolaryngopelvic dysplasia skos:exactMatch MEDGEN:349978 semapv:UnspecifiedMatching MONDO:0008551 thoracolaryngopelvic dysplasia skos:exactMatch OMIM:187760 thoracolaryngopelvic dysplasia semapv:UnspecifiedMatching MONDO:0008551 thoracolaryngopelvic dysplasia skos:exactMatch OMIM:187770 thoracopelvic dysostosis semapv:UnspecifiedMatching MONDO:0008551 thoracolaryngopelvic dysplasia skos:exactMatch Orphanet:3317 Thoracolaryngopelvic dysplasia semapv:UnspecifiedMatching MONDO:0008551 thoracolaryngopelvic dysplasia skos:exactMatch SCTID:723556008 semapv:UnspecifiedMatching MONDO:0008551 thoracolaryngopelvic dysplasia skos:exactMatch UMLS:C1861197 semapv:UnspecifiedMatching MONDO:0008551 thoracolaryngopelvic dysplasia skos:exactMatch icd11.foundation:337990406 Thoracolaryngopelvic dysplasia semapv:UnspecifiedMatching MONDO:0008551 thoracolaryngopelvic dysplasia skos:exactMatch mesh:C536517 semapv:UnspecifiedMatching MONDO:0008552 platelet-type bleeding disorder 16 skos:exactMatch DOID:0060691 platelet-type bleeding disorder 16 semapv:UnspecifiedMatching MONDO:0008552 platelet-type bleeding disorder 16 skos:exactMatch MEDGEN:1781222 semapv:UnspecifiedMatching MONDO:0008552 platelet-type bleeding disorder 16 skos:exactMatch OMIM:187800 bleeding disorder, platelet-type, 16 semapv:UnspecifiedMatching MONDO:0008552 platelet-type bleeding disorder 16 skos:exactMatch UMLS:C5442010 semapv:UnspecifiedMatching MONDO:0008552 platelet-type bleeding disorder 16 skos:exactMatch mesh:C566061 semapv:UnspecifiedMatching MONDO:0008553 platelet-type bleeding disorder 17 skos:exactMatch DOID:0111049 platelet-type bleeding disorder 17 semapv:UnspecifiedMatching MONDO:0008553 platelet-type bleeding disorder 17 skos:exactMatch MEDGEN:396078 semapv:UnspecifiedMatching MONDO:0008553 platelet-type bleeding disorder 17 skos:exactMatch NCIT:C142084 Bleeding Disorder, Platelet-Type 17 semapv:UnspecifiedMatching MONDO:0008553 platelet-type bleeding disorder 17 skos:exactMatch OMIM:187900 bleeding disorder, platelet-type, 17 semapv:UnspecifiedMatching MONDO:0008553 platelet-type bleeding disorder 17 skos:exactMatch UMLS:C1861194 semapv:UnspecifiedMatching MONDO:0008553 platelet-type bleeding disorder 17 skos:exactMatch mesh:C566060 semapv:UnspecifiedMatching MONDO:0008554 thrombocythemia 1 skos:exactMatch MEDGEN:479301 semapv:UnspecifiedMatching MONDO:0008554 thrombocythemia 1 skos:exactMatch OMIM:187950 thrombocythemia 1 semapv:UnspecifiedMatching MONDO:0008554 thrombocythemia 1 skos:exactMatch UMLS:C3277671 semapv:UnspecifiedMatching MONDO:0008555 thrombocytopenia 2 skos:exactMatch MEDGEN:349976 semapv:UnspecifiedMatching MONDO:0008555 thrombocytopenia 2 skos:exactMatch NCIT:C129035 Thrombocytopenia 2 semapv:UnspecifiedMatching MONDO:0008555 thrombocytopenia 2 skos:exactMatch OMIM:188000 thrombocytopenia 2 semapv:UnspecifiedMatching MONDO:0008555 thrombocytopenia 2 skos:exactMatch UMLS:C1861185 semapv:UnspecifiedMatching MONDO:0008555 thrombocytopenia 2 skos:exactMatch mesh:C536519 semapv:UnspecifiedMatching MONDO:0008556 thrombocytopenia, cyclic skos:exactMatch MEDGEN:78799 semapv:UnspecifiedMatching MONDO:0008556 thrombocytopenia, cyclic skos:exactMatch OMIM:188020 thrombocytopenia, cyclic semapv:UnspecifiedMatching MONDO:0008556 thrombocytopenia, cyclic skos:exactMatch SCTID:48788004 semapv:UnspecifiedMatching MONDO:0008556 thrombocytopenia, cyclic skos:exactMatch UMLS:C0272282 semapv:UnspecifiedMatching MONDO:0008556 thrombocytopenia, cyclic skos:exactMatch mesh:C536899 semapv:UnspecifiedMatching MONDO:0008557 Paris-Trousseau thrombocytopenia skos:exactMatch MEDGEN:365037 semapv:UnspecifiedMatching MONDO:0008557 Paris-Trousseau thrombocytopenia skos:exactMatch OMIM:188025 thrombocytopenia, paris-trousseau type semapv:UnspecifiedMatching MONDO:0008557 Paris-Trousseau thrombocytopenia skos:exactMatch Orphanet:851 Paris-Trousseau thrombocytopenia semapv:UnspecifiedMatching MONDO:0008557 Paris-Trousseau thrombocytopenia skos:exactMatch UMLS:C1956093 semapv:UnspecifiedMatching MONDO:0008557 Paris-Trousseau thrombocytopenia skos:exactMatch icd11.foundation:1441183910 Paris-Trousseau thrombocytopenia semapv:UnspecifiedMatching MONDO:0008558 autoimmune thrombocytopenic purpura skos:exactMatch DOID:8924 autoimmune thrombocytopenic purpura semapv:UnspecifiedMatching MONDO:0008558 autoimmune thrombocytopenic purpura skos:exactMatch EFO:0007160 semapv:UnspecifiedMatching MONDO:0008558 autoimmune thrombocytopenic purpura skos:exactMatch ICD10CM:D69.3 Immune thrombocytopenic purpura semapv:UnspecifiedMatching MONDO:0008558 autoimmune thrombocytopenic purpura skos:exactMatch MEDGEN:584986 semapv:UnspecifiedMatching MONDO:0008558 autoimmune thrombocytopenic purpura skos:exactMatch NCIT:C3446 Primary Immune Thrombocytopenia semapv:UnspecifiedMatching MONDO:0008558 autoimmune thrombocytopenic purpura skos:exactMatch OMIM:188030 immune thrombocytopenia semapv:UnspecifiedMatching MONDO:0008558 autoimmune thrombocytopenic purpura skos:exactMatch Orphanet:3002 Immune thrombocytopenia semapv:UnspecifiedMatching MONDO:0008558 autoimmune thrombocytopenic purpura skos:exactMatch UMLS:C0398650 semapv:UnspecifiedMatching MONDO:0008558 autoimmune thrombocytopenic purpura skos:exactMatch icd11.foundation:364346400 Immune thrombocytopenic purpura semapv:UnspecifiedMatching MONDO:0008559 thrombophilia due to thrombin defect skos:exactMatch DOID:0111907 thrombophilia due to thrombin defect semapv:UnspecifiedMatching MONDO:0008559 thrombophilia due to thrombin defect skos:exactMatch MEDGEN:463623 semapv:UnspecifiedMatching MONDO:0008559 thrombophilia due to thrombin defect skos:exactMatch OMIM:188050 thrombophilia due to thrombin defect semapv:UnspecifiedMatching MONDO:0008559 thrombophilia due to thrombin defect skos:exactMatch SCTID:111293003 semapv:UnspecifiedMatching MONDO:0008559 thrombophilia due to thrombin defect skos:exactMatch UMLS:C3160733 semapv:UnspecifiedMatching MONDO:0008560 thrombophilia due to activated protein C resistance skos:exactMatch DOID:0111902 thrombophilia due to activated protein C resistance semapv:UnspecifiedMatching MONDO:0008560 thrombophilia due to activated protein C resistance skos:exactMatch MEDGEN:396074 semapv:UnspecifiedMatching MONDO:0008560 thrombophilia due to activated protein C resistance skos:exactMatch OMIM:188055 thrombophilia due to activated protein c resistance semapv:UnspecifiedMatching MONDO:0008560 thrombophilia due to activated protein C resistance skos:exactMatch SCTID:421527008 semapv:UnspecifiedMatching MONDO:0008560 thrombophilia due to activated protein C resistance skos:exactMatch UMLS:C1861171 semapv:UnspecifiedMatching MONDO:0008560 thrombophilia due to activated protein C resistance skos:exactMatch mesh:D020016 semapv:UnspecifiedMatching MONDO:0008561 thumb deformity skos:exactMatch MEDGEN:107901 semapv:UnspecifiedMatching MONDO:0008561 thumb deformity skos:exactMatch OMIM:188100 thumb deformity semapv:UnspecifiedMatching MONDO:0008561 thumb deformity skos:exactMatch UMLS:C0575897 semapv:UnspecifiedMatching MONDO:0008561 thumb deformity skos:exactMatch mesh:C536903 semapv:UnspecifiedMatching MONDO:0008562 thumb deformity-alopecia-pigmentation anomaly syndrome skos:exactMatch MEDGEN:348284 semapv:UnspecifiedMatching MONDO:0008562 thumb deformity-alopecia-pigmentation anomaly syndrome skos:exactMatch OMIM:188150 thumb deformity and alopecia semapv:UnspecifiedMatching MONDO:0008562 thumb deformity-alopecia-pigmentation anomaly syndrome skos:exactMatch Orphanet:2251 Thumb deformity-alopecia-pigmentation anomaly syndrome semapv:UnspecifiedMatching MONDO:0008562 thumb deformity-alopecia-pigmentation anomaly syndrome skos:exactMatch UMLS:C1861168 semapv:UnspecifiedMatching MONDO:0008562 thumb deformity-alopecia-pigmentation anomaly syndrome skos:exactMatch mesh:C566054 semapv:UnspecifiedMatching MONDO:0008563 thumb stiffness-brachydactyly-intellectual disability syndrome skos:exactMatch MEDGEN:396073 semapv:UnspecifiedMatching MONDO:0008563 thumb stiffness-brachydactyly-intellectual disability syndrome skos:exactMatch OMIM:188201 thumbs, stiff, with brachydactyly type a1 and developmental delay semapv:UnspecifiedMatching MONDO:0008563 thumb stiffness-brachydactyly-intellectual disability syndrome skos:exactMatch Orphanet:1078 Thumb stiffness-brachydactyly-intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0008563 thumb stiffness-brachydactyly-intellectual disability syndrome skos:exactMatch UMLS:C1861166 semapv:UnspecifiedMatching MONDO:0008564 DiGeorge syndrome skos:exactMatch DOID:11198 DiGeorge syndrome semapv:UnspecifiedMatching MONDO:0008564 DiGeorge syndrome skos:exactMatch ICD10CM:D82.1 Di George's syndrome semapv:UnspecifiedMatching MONDO:0008564 DiGeorge syndrome skos:exactMatch MEDGEN:4297 semapv:UnspecifiedMatching MONDO:0008564 DiGeorge syndrome skos:exactMatch NCIT:C2989 22q11.2 Deletion Syndrome semapv:UnspecifiedMatching MONDO:0008564 DiGeorge syndrome skos:exactMatch OMIM:188400 digeorge syndrome semapv:UnspecifiedMatching MONDO:0008564 DiGeorge syndrome skos:exactMatch SCTID:77128003 semapv:UnspecifiedMatching MONDO:0008564 DiGeorge syndrome skos:exactMatch UMLS:C0012236 semapv:UnspecifiedMatching MONDO:0008564 DiGeorge syndrome skos:exactMatch mesh:D004062 semapv:UnspecifiedMatching MONDO:0008565 familial thyroglossal duct cyst skos:exactMatch MEDGEN:501211 semapv:UnspecifiedMatching MONDO:0008565 familial thyroglossal duct cyst skos:exactMatch OMIM:188455 thyroglossal duct cyst, familial semapv:UnspecifiedMatching MONDO:0008565 familial thyroglossal duct cyst skos:exactMatch Orphanet:93953 Familial thyroglossal duct cyst semapv:UnspecifiedMatching MONDO:0008565 familial thyroglossal duct cyst skos:exactMatch SCTID:717331000 semapv:UnspecifiedMatching MONDO:0008565 familial thyroglossal duct cyst skos:exactMatch UMLS:C3495590 semapv:UnspecifiedMatching MONDO:0008565 familial thyroglossal duct cyst skos:exactMatch mesh:C536909 semapv:UnspecifiedMatching MONDO:0008566 thyroid cancer, nonmedullary, 2 skos:exactMatch MEDGEN:904175 semapv:UnspecifiedMatching MONDO:0008566 thyroid cancer, nonmedullary, 2 skos:exactMatch OMIM:188470 thyroid cancer, nonmedullary, 2 semapv:UnspecifiedMatching MONDO:0008566 thyroid cancer, nonmedullary, 2 skos:exactMatch UMLS:C4225426 semapv:UnspecifiedMatching MONDO:0008566 thyroid cancer, nonmedullary, 2 skos:exactMatch mesh:C572845 semapv:UnspecifiedMatching MONDO:0008567 thyroid cancer, nonmedullary, 1 skos:exactMatch MEDGEN:1648293 semapv:UnspecifiedMatching MONDO:0008567 thyroid cancer, nonmedullary, 1 skos:exactMatch OMIM:188550 thyroid cancer, nonmedullary, 1 semapv:UnspecifiedMatching MONDO:0008567 thyroid cancer, nonmedullary, 1 skos:exactMatch UMLS:C4721429 semapv:UnspecifiedMatching MONDO:0008568 thyroid hormone plasma membrane transport defect skos:exactMatch MEDGEN:396060 semapv:UnspecifiedMatching MONDO:0008568 thyroid hormone plasma membrane transport defect skos:exactMatch OMIM:188560 thyroid hormone plasma membrane transport defect semapv:UnspecifiedMatching MONDO:0008568 thyroid hormone plasma membrane transport defect skos:exactMatch UMLS:C1861101 semapv:UnspecifiedMatching MONDO:0008568 thyroid hormone plasma membrane transport defect skos:exactMatch mesh:C536916 semapv:UnspecifiedMatching MONDO:0008569 thyroid hormone resistance, generalized, autosomal dominant skos:exactMatch MEDGEN:424846 semapv:UnspecifiedMatching MONDO:0008569 thyroid hormone resistance, generalized, autosomal dominant skos:exactMatch OMIM:188570 thyroid hormone resistance, generalized, autosomal dominant semapv:UnspecifiedMatching MONDO:0008569 thyroid hormone resistance, generalized, autosomal dominant skos:exactMatch UMLS:C2937288 semapv:UnspecifiedMatching MONDO:0008569 thyroid hormone resistance, generalized, autosomal dominant skos:exactMatch mesh:C567934 semapv:UnspecifiedMatching MONDO:0008570 thyrotoxic periodic paralysis, susceptibility to, 1 skos:exactMatch MEDGEN:413199 semapv:UnspecifiedMatching MONDO:0008570 thyrotoxic periodic paralysis, susceptibility to, 1 skos:exactMatch OMIM:188580 thyrotoxic periodic paralysis, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0008570 thyrotoxic periodic paralysis, susceptibility to, 1 skos:exactMatch UMLS:C2749982 semapv:UnspecifiedMatching MONDO:0008571 Blount disease, infantile skos:exactMatch MEDGEN:65091 semapv:UnspecifiedMatching MONDO:0008571 Blount disease, infantile skos:exactMatch OMIM:188700 blount disease, infantile semapv:UnspecifiedMatching MONDO:0008571 Blount disease, infantile skos:exactMatch UMLS:C0220757 semapv:UnspecifiedMatching MONDO:0008572 tibia, hypoplasia or aplasia of, with polydactyly skos:exactMatch DOID:0111564 hypoplastic or aplastic tibia with polydactyly semapv:UnspecifiedMatching MONDO:0008572 tibia, hypoplasia or aplasia of, with polydactyly skos:exactMatch MEDGEN:348786 semapv:UnspecifiedMatching MONDO:0008572 tibia, hypoplasia or aplasia of, with polydactyly skos:exactMatch OMIM:188740 tibia, hypoplasia or aplasia of, with polydactyly semapv:UnspecifiedMatching MONDO:0008572 tibia, hypoplasia or aplasia of, with polydactyly skos:exactMatch Orphanet:988 Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome semapv:UnspecifiedMatching MONDO:0008572 tibia, hypoplasia or aplasia of, with polydactyly skos:exactMatch SCTID:716741008 semapv:UnspecifiedMatching MONDO:0008572 tibia, hypoplasia or aplasia of, with polydactyly skos:exactMatch UMLS:C1861098 semapv:UnspecifiedMatching MONDO:0008572 tibia, hypoplasia or aplasia of, with polydactyly skos:exactMatch mesh:C535564 semapv:UnspecifiedMatching MONDO:0008572 tibia, hypoplasia or aplasia of, with polydactyly skos:exactMatch mesh:C566046 semapv:UnspecifiedMatching MONDO:0008573 tibial torsion, bilateral medial skos:exactMatch MEDGEN:348785 semapv:UnspecifiedMatching MONDO:0008573 tibial torsion, bilateral medial skos:exactMatch OMIM:188800 tibial torsion, bilateral medial semapv:UnspecifiedMatching MONDO:0008573 tibial torsion, bilateral medial skos:exactMatch UMLS:C1861097 semapv:UnspecifiedMatching MONDO:0008573 tibial torsion, bilateral medial skos:exactMatch mesh:C566045 semapv:UnspecifiedMatching MONDO:0008574 obsolete Tl antigen skos:exactMatch OMIM:188850 tl antigen semapv:UnspecifiedMatching MONDO:0008575 nicotine dependence skos:exactMatch DOID:0050742 nicotine dependence semapv:UnspecifiedMatching MONDO:0008575 nicotine dependence skos:exactMatch EFO:0003768 semapv:UnspecifiedMatching MONDO:0008575 nicotine dependence skos:exactMatch ICD10CM:F17 Nicotine dependence semapv:UnspecifiedMatching MONDO:0008575 nicotine dependence skos:exactMatch ICD10CM:F17.2 Nicotine dependence semapv:UnspecifiedMatching MONDO:0008575 nicotine dependence skos:exactMatch MEDGEN:45086 semapv:UnspecifiedMatching MONDO:0008575 nicotine dependence skos:exactMatch NCIT:C54203 Nicotine Dependence semapv:UnspecifiedMatching MONDO:0008575 nicotine dependence skos:exactMatch SCTID:56294008 semapv:UnspecifiedMatching MONDO:0008575 nicotine dependence skos:exactMatch UMLS:C0028043 semapv:UnspecifiedMatching MONDO:0008575 nicotine dependence skos:exactMatch icd11.foundation:1699574100 Nicotine dependence semapv:UnspecifiedMatching MONDO:0008575 nicotine dependence skos:exactMatch mesh:D014029 semapv:UnspecifiedMatching MONDO:0008576 toe, fifth, number of phalanges 1N skos:exactMatch MEDGEN:348255 semapv:UnspecifiedMatching MONDO:0008576 toe, fifth, number of phalanges 1N skos:exactMatch OMIM:189000 toe, fifth, number of phalanges 1n semapv:UnspecifiedMatching MONDO:0008576 toe, fifth, number of phalanges 1N skos:exactMatch UMLS:C1861062 semapv:UnspecifiedMatching MONDO:0008577 toe, misshapen skos:exactMatch MEDGEN:396052 semapv:UnspecifiedMatching MONDO:0008577 toe, misshapen skos:exactMatch OMIM:189100 toe, misshapen semapv:UnspecifiedMatching MONDO:0008577 toe, misshapen skos:exactMatch UMLS:C1861061 semapv:UnspecifiedMatching MONDO:0008578 toe, rotated fifth skos:exactMatch MEDGEN:348254 semapv:UnspecifiedMatching MONDO:0008578 toe, rotated fifth skos:exactMatch OMIM:189150 toe, rotated fifth semapv:UnspecifiedMatching MONDO:0008578 toe, rotated fifth skos:exactMatch UMLS:C1861060 semapv:UnspecifiedMatching MONDO:0008579 toes, relative length of first and second skos:exactMatch MEDGEN:396051 semapv:UnspecifiedMatching MONDO:0008579 toes, relative length of first and second skos:exactMatch OMIM:189200 toes, relative length of first and second semapv:UnspecifiedMatching MONDO:0008579 toes, relative length of first and second skos:exactMatch UMLS:C1861059 semapv:UnspecifiedMatching MONDO:0008580 toes, space between first and second skos:exactMatch MEDGEN:348253 semapv:UnspecifiedMatching MONDO:0008580 toes, space between first and second skos:exactMatch OMIM:189230 toes, space between first and second semapv:UnspecifiedMatching MONDO:0008580 toes, space between first and second skos:exactMatch UMLS:C1861058 semapv:UnspecifiedMatching MONDO:0008581 malposition of teeth with or without hypodontia/oligodontia skos:exactMatch MEDGEN:442888 semapv:UnspecifiedMatching MONDO:0008581 malposition of teeth with or without hypodontia/oligodontia skos:exactMatch OMIM:189490 malposition of teeth with or without hypodontia/oligodontia semapv:UnspecifiedMatching MONDO:0008581 malposition of teeth with or without hypodontia/oligodontia skos:exactMatch UMLS:C2752157 semapv:UnspecifiedMatching MONDO:0008582 tooth and nail syndrome skos:exactMatch DOID:6678 tooth and nail syndrome semapv:UnspecifiedMatching MONDO:0008582 tooth and nail syndrome skos:exactMatch MEDGEN:140809 semapv:UnspecifiedMatching MONDO:0008582 tooth and nail syndrome skos:exactMatch NCIT:C40553 Tooth and Nail Syndrome semapv:UnspecifiedMatching MONDO:0008582 tooth and nail syndrome skos:exactMatch OMIM:189500 witkop syndrome semapv:UnspecifiedMatching MONDO:0008582 tooth and nail syndrome skos:exactMatch Orphanet:2228 Hypodontia-dysplasia of nails syndrome semapv:UnspecifiedMatching MONDO:0008582 tooth and nail syndrome skos:exactMatch SCTID:400036004 semapv:UnspecifiedMatching MONDO:0008582 tooth and nail syndrome skos:exactMatch UMLS:C0406735 semapv:UnspecifiedMatching MONDO:0008582 tooth and nail syndrome skos:exactMatch mesh:C536736 semapv:UnspecifiedMatching MONDO:0008583 inherited torticollis skos:exactMatch MEDGEN:11859 semapv:UnspecifiedMatching MONDO:0008583 inherited torticollis skos:exactMatch NCIT:C4811 Fibromatosis Colli semapv:UnspecifiedMatching MONDO:0008583 inherited torticollis skos:exactMatch OMIM:189600 torticollis semapv:UnspecifiedMatching MONDO:0008583 inherited torticollis skos:exactMatch SCTID:268240006 semapv:UnspecifiedMatching MONDO:0008583 inherited torticollis skos:exactMatch SCTID:70070008 semapv:UnspecifiedMatching MONDO:0008583 inherited torticollis skos:exactMatch UMLS:C0040485 semapv:UnspecifiedMatching MONDO:0008583 inherited torticollis skos:exactMatch mesh:C535425 semapv:UnspecifiedMatching MONDO:0008584 torus palatinus and torus mandibularis skos:exactMatch MEDGEN:349942 semapv:UnspecifiedMatching MONDO:0008584 torus palatinus and torus mandibularis skos:exactMatch OMIM:189700 torus palatinus and torus mandibularis semapv:UnspecifiedMatching MONDO:0008584 torus palatinus and torus mandibularis skos:exactMatch UMLS:C1861044 semapv:UnspecifiedMatching MONDO:0008584 torus palatinus and torus mandibularis skos:exactMatch mesh:C566043 semapv:UnspecifiedMatching MONDO:0008585 HELLP syndrome skos:exactMatch DOID:13133 HELLP syndrome semapv:UnspecifiedMatching MONDO:0008585 HELLP syndrome skos:exactMatch EFO:0007297 semapv:UnspecifiedMatching MONDO:0008585 HELLP syndrome skos:exactMatch ICD10CM:O14.2 HELLP syndrome semapv:UnspecifiedMatching MONDO:0008585 HELLP syndrome skos:exactMatch MEDGEN:58162 semapv:UnspecifiedMatching MONDO:0008585 HELLP syndrome skos:exactMatch NCIT:C84750 HELLP Syndrome semapv:UnspecifiedMatching MONDO:0008585 HELLP syndrome skos:exactMatch Orphanet:244242 HELLP syndrome semapv:UnspecifiedMatching MONDO:0008585 HELLP syndrome skos:exactMatch UMLS:C0162739 semapv:UnspecifiedMatching MONDO:0008585 HELLP syndrome skos:exactMatch icd11.foundation:1748922908 HELLP syndrome semapv:UnspecifiedMatching MONDO:0008585 HELLP syndrome skos:exactMatch mesh:D017359 semapv:UnspecifiedMatching MONDO:0008586 esophageal atresia/tracheoesophageal fistula skos:exactMatch DOID:0080171 esophageal atresia/tracheoesophageal fistula semapv:UnspecifiedMatching MONDO:0008586 esophageal atresia/tracheoesophageal fistula skos:exactMatch MEDGEN:21228 semapv:UnspecifiedMatching MONDO:0008586 esophageal atresia/tracheoesophageal fistula skos:exactMatch OMIM:189960 tracheoesophageal fistula with or without esophageal atresia semapv:UnspecifiedMatching MONDO:0008586 esophageal atresia/tracheoesophageal fistula skos:exactMatch Orphanet:1199 Esophageal atresia semapv:UnspecifiedMatching MONDO:0008586 esophageal atresia/tracheoesophageal fistula skos:exactMatch SCTID:95435007 semapv:UnspecifiedMatching MONDO:0008586 esophageal atresia/tracheoesophageal fistula skos:exactMatch UMLS:C0040588 semapv:UnspecifiedMatching MONDO:0008586 esophageal atresia/tracheoesophageal fistula skos:exactMatch icd11.foundation:1582061097 Atresia of oesophagus semapv:UnspecifiedMatching MONDO:0008586 esophageal atresia/tracheoesophageal fistula skos:exactMatch mesh:C531835 semapv:UnspecifiedMatching MONDO:0008587 tracheobronchopathia osteochondroplastica skos:exactMatch MEDGEN:854438 semapv:UnspecifiedMatching MONDO:0008587 tracheobronchopathia osteochondroplastica skos:exactMatch OMIM:189961 tracheopathia osteoplastica semapv:UnspecifiedMatching MONDO:0008587 tracheobronchopathia osteochondroplastica skos:exactMatch Orphanet:3348 Tracheobronchopathia osteochondroplastica semapv:UnspecifiedMatching MONDO:0008587 tracheobronchopathia osteochondroplastica skos:exactMatch SCTID:54675009 semapv:UnspecifiedMatching MONDO:0008587 tracheobronchopathia osteochondroplastica skos:exactMatch UMLS:C3887588 semapv:UnspecifiedMatching MONDO:0008587 tracheobronchopathia osteochondroplastica skos:exactMatch icd11.foundation:1797446244 Tracheobronchopathia osteochondroplastica semapv:UnspecifiedMatching MONDO:0008587 tracheobronchopathia osteochondroplastica skos:exactMatch mesh:C536977 semapv:UnspecifiedMatching MONDO:0008588 hereditary geniospasm skos:exactMatch MEDGEN:348757 semapv:UnspecifiedMatching MONDO:0008588 hereditary geniospasm skos:exactMatch OMIM:190100 geniospasm 1 semapv:UnspecifiedMatching MONDO:0008588 hereditary geniospasm skos:exactMatch Orphanet:53372 Hereditary geniospasm semapv:UnspecifiedMatching MONDO:0008588 hereditary geniospasm skos:exactMatch SCTID:718103001 semapv:UnspecifiedMatching MONDO:0008588 hereditary geniospasm skos:exactMatch UMLS:C1860972 semapv:UnspecifiedMatching MONDO:0008588 hereditary geniospasm skos:exactMatch mesh:C537682 semapv:UnspecifiedMatching MONDO:0008589 tremor of intention, ataxia, and lipofuscinosis skos:exactMatch MEDGEN:396002 semapv:UnspecifiedMatching MONDO:0008589 tremor of intention, ataxia, and lipofuscinosis skos:exactMatch OMIM:190200 tremor of intention, ataxia, and lipofuscinosis semapv:UnspecifiedMatching MONDO:0008589 tremor of intention, ataxia, and lipofuscinosis skos:exactMatch UMLS:C1860872 semapv:UnspecifiedMatching MONDO:0008589 tremor of intention, ataxia, and lipofuscinosis skos:exactMatch mesh:C566038 semapv:UnspecifiedMatching MONDO:0008590 tremor, hereditary essential, 1 skos:exactMatch DOID:0111428 essential tremor 1 semapv:UnspecifiedMatching MONDO:0008590 tremor, hereditary essential, 1 skos:exactMatch MEDGEN:349909 semapv:UnspecifiedMatching MONDO:0008590 tremor, hereditary essential, 1 skos:exactMatch OMIM:190300 tremor, hereditary essential, 1 semapv:UnspecifiedMatching MONDO:0008590 tremor, hereditary essential, 1 skos:exactMatch UMLS:C1860861 semapv:UnspecifiedMatching MONDO:0008590 tremor, hereditary essential, 1 skos:exactMatch mesh:C536545 semapv:UnspecifiedMatching MONDO:0008591 tremor-nystagmus-duodenal ulcer syndrome skos:exactMatch MEDGEN:349908 semapv:UnspecifiedMatching MONDO:0008591 tremor-nystagmus-duodenal ulcer syndrome skos:exactMatch OMIM:190310 tremor, nystagmus, and duodenal ulcer semapv:UnspecifiedMatching MONDO:0008591 tremor-nystagmus-duodenal ulcer syndrome skos:exactMatch Orphanet:3350 Tremor-nystagmus-duodenal ulcer syndrome semapv:UnspecifiedMatching MONDO:0008591 tremor-nystagmus-duodenal ulcer syndrome skos:exactMatch UMLS:C1860860 semapv:UnspecifiedMatching MONDO:0008591 tremor-nystagmus-duodenal ulcer syndrome skos:exactMatch mesh:C536406 semapv:UnspecifiedMatching MONDO:0008592 tricho-dento-osseous syndrome skos:exactMatch DOID:0111565 trichodontoosseous syndrome semapv:UnspecifiedMatching MONDO:0008592 tricho-dento-osseous syndrome skos:exactMatch MEDGEN:78555 semapv:UnspecifiedMatching MONDO:0008592 tricho-dento-osseous syndrome skos:exactMatch OMIM:190320 trichodentoosseous syndrome semapv:UnspecifiedMatching MONDO:0008592 tricho-dento-osseous syndrome skos:exactMatch Orphanet:3352 Tricho-dento-osseous syndrome semapv:UnspecifiedMatching MONDO:0008592 tricho-dento-osseous syndrome skos:exactMatch SCTID:38993008 semapv:UnspecifiedMatching MONDO:0008592 tricho-dento-osseous syndrome skos:exactMatch UMLS:C0265333 semapv:UnspecifiedMatching MONDO:0008592 tricho-dento-osseous syndrome skos:exactMatch icd11.foundation:131993435 Tricho-dento-osseous syndrome semapv:UnspecifiedMatching MONDO:0008592 tricho-dento-osseous syndrome skos:exactMatch mesh:C536549 semapv:UnspecifiedMatching MONDO:0008593 trichomegaly skos:exactMatch MEDGEN:163139 semapv:UnspecifiedMatching MONDO:0008593 trichomegaly skos:exactMatch OMIM:190330 trichomegaly semapv:UnspecifiedMatching MONDO:0008593 trichomegaly skos:exactMatch UMLS:C0854699 semapv:UnspecifiedMatching MONDO:0008594 familial multiple discoid fibromas skos:exactMatch MEDGEN:348201 semapv:UnspecifiedMatching MONDO:0008594 familial multiple discoid fibromas skos:exactMatch OMIM:190340 discoid fibromas, familial multiple semapv:UnspecifiedMatching MONDO:0008594 familial multiple discoid fibromas skos:exactMatch Orphanet:538756 Familial multiple discoid fibromas semapv:UnspecifiedMatching MONDO:0008594 familial multiple discoid fibromas skos:exactMatch UMLS:C1860850 semapv:UnspecifiedMatching MONDO:0008594 familial multiple discoid fibromas skos:exactMatch mesh:C536847 semapv:UnspecifiedMatching MONDO:0008595 trichoepitheliomas, multiple desmoplastic skos:exactMatch MEDGEN:348200 semapv:UnspecifiedMatching MONDO:0008595 trichoepitheliomas, multiple desmoplastic skos:exactMatch OMIM:190345 trichoepitheliomas, multiple desmoplastic semapv:UnspecifiedMatching MONDO:0008595 trichoepitheliomas, multiple desmoplastic skos:exactMatch UMLS:C1860849 semapv:UnspecifiedMatching MONDO:0008595 trichoepitheliomas, multiple desmoplastic skos:exactMatch mesh:C566034 semapv:UnspecifiedMatching MONDO:0008596 trichorhinophalangeal syndrome type I skos:exactMatch DOID:14743 trichorhinophalangeal syndrome type I semapv:UnspecifiedMatching MONDO:0008596 trichorhinophalangeal syndrome type I skos:exactMatch MEDGEN:140929 semapv:UnspecifiedMatching MONDO:0008596 trichorhinophalangeal syndrome type I skos:exactMatch NCIT:C75109 Trichorhinophalangeal Syndrome Type I semapv:UnspecifiedMatching MONDO:0008596 trichorhinophalangeal syndrome type I skos:exactMatch OMIM:190350 trichorhinophalangeal syndrome, type 1 semapv:UnspecifiedMatching MONDO:0008596 trichorhinophalangeal syndrome type I skos:exactMatch Orphanet:77258 Trichorhinophalangeal syndrome type 1 semapv:UnspecifiedMatching MONDO:0008596 trichorhinophalangeal syndrome type I skos:exactMatch SCTID:254091006 semapv:UnspecifiedMatching MONDO:0008596 trichorhinophalangeal syndrome type I skos:exactMatch UMLS:C0432233 semapv:UnspecifiedMatching MONDO:0008596 trichorhinophalangeal syndrome type I skos:exactMatch mesh:C536820 semapv:UnspecifiedMatching MONDO:0008597 obsolete trichorhinophalangeal syndrome, type III skos:exactMatch DOID:0080376 trichorhinophalangeal syndrome type III semapv:UnspecifiedMatching MONDO:0008597 obsolete trichorhinophalangeal syndrome, type III skos:exactMatch OMIM:190351 trichorhinophalangeal syndrome, type 3 semapv:UnspecifiedMatching MONDO:0008597 obsolete trichorhinophalangeal syndrome, type III skos:exactMatch mesh:C566033 semapv:UnspecifiedMatching MONDO:0008598 trichodysplasia-xeroderma syndrome skos:exactMatch MEDGEN:349898 semapv:UnspecifiedMatching MONDO:0008598 trichodysplasia-xeroderma syndrome skos:exactMatch OMIM:190360 trichodysplasia-xeroderma semapv:UnspecifiedMatching MONDO:0008598 trichodysplasia-xeroderma syndrome skos:exactMatch Orphanet:3361 Trichodysplasia-xeroderma syndrome semapv:UnspecifiedMatching MONDO:0008598 trichodysplasia-xeroderma syndrome skos:exactMatch UMLS:C1860822 semapv:UnspecifiedMatching MONDO:0008598 trichodysplasia-xeroderma syndrome skos:exactMatch mesh:C566032 semapv:UnspecifiedMatching MONDO:0008599 trigeminal neuralgia skos:exactMatch DOID:12098 trigeminal neuralgia semapv:UnspecifiedMatching MONDO:0008599 trigeminal neuralgia skos:exactMatch EFO:1001219 semapv:UnspecifiedMatching MONDO:0008599 trigeminal neuralgia skos:exactMatch ICD10CM:G50.0 Trigeminal neuralgia semapv:UnspecifiedMatching MONDO:0008599 trigeminal neuralgia skos:exactMatch MEDGEN:21683 semapv:UnspecifiedMatching MONDO:0008599 trigeminal neuralgia skos:exactMatch OMIM:190400 trigeminal neuralgia semapv:UnspecifiedMatching MONDO:0008599 trigeminal neuralgia skos:exactMatch Orphanet:221091 Trigeminal neuralgia semapv:UnspecifiedMatching MONDO:0008599 trigeminal neuralgia skos:exactMatch SCTID:31681005 semapv:UnspecifiedMatching MONDO:0008599 trigeminal neuralgia skos:exactMatch UMLS:C0040997 semapv:UnspecifiedMatching MONDO:0008599 trigeminal neuralgia skos:exactMatch icd11.foundation:1803581281 Trigeminal neuralgia semapv:UnspecifiedMatching MONDO:0008599 trigeminal neuralgia skos:exactMatch mesh:D014277 semapv:UnspecifiedMatching MONDO:0008600 trigger thumb skos:exactMatch ICD10CM:M65.31 Trigger thumb semapv:UnspecifiedMatching MONDO:0008600 trigger thumb skos:exactMatch MEDGEN:98044 semapv:UnspecifiedMatching MONDO:0008600 trigger thumb skos:exactMatch OMIM:190410 trigger thumb semapv:UnspecifiedMatching MONDO:0008600 trigger thumb skos:exactMatch SCTID:42786005 semapv:UnspecifiedMatching MONDO:0008600 trigger thumb skos:exactMatch UMLS:C0410060 semapv:UnspecifiedMatching MONDO:0008600 trigger thumb skos:exactMatch mesh:D052582 semapv:UnspecifiedMatching MONDO:0008601 triglyceride storage disease, type 1 skos:exactMatch MEDGEN:349897 semapv:UnspecifiedMatching MONDO:0008601 triglyceride storage disease, type 1 skos:exactMatch OMIM:190420 triglyceride storage disease, type 1 semapv:UnspecifiedMatching MONDO:0008601 triglyceride storage disease, type 1 skos:exactMatch UMLS:C1860821 semapv:UnspecifiedMatching MONDO:0008601 triglyceride storage disease, type 1 skos:exactMatch mesh:C566031 semapv:UnspecifiedMatching MONDO:0008602 triglyceride storage disease, type 2 skos:exactMatch MEDGEN:349896 semapv:UnspecifiedMatching MONDO:0008602 triglyceride storage disease, type 2 skos:exactMatch OMIM:190430 triglyceride storage disease, type 2 semapv:UnspecifiedMatching MONDO:0008602 triglyceride storage disease, type 2 skos:exactMatch UMLS:C1860820 semapv:UnspecifiedMatching MONDO:0008602 triglyceride storage disease, type 2 skos:exactMatch mesh:C566030 semapv:UnspecifiedMatching MONDO:0008603 trigonocephaly 1 skos:exactMatch MEDGEN:98473 semapv:UnspecifiedMatching MONDO:0008603 trigonocephaly 1 skos:exactMatch OMIM:190440 trigonocephaly 1 semapv:UnspecifiedMatching MONDO:0008603 trigonocephaly 1 skos:exactMatch UMLS:C0432122 semapv:UnspecifiedMatching MONDO:0008604 triphalangeal thumb with double phalanges skos:exactMatch MEDGEN:395985 semapv:UnspecifiedMatching MONDO:0008604 triphalangeal thumb with double phalanges skos:exactMatch OMIM:190500 triphalangeal thumb with double phalanges semapv:UnspecifiedMatching MONDO:0008604 triphalangeal thumb with double phalanges skos:exactMatch UMLS:C1860807 semapv:UnspecifiedMatching MONDO:0008604 triphalangeal thumb with double phalanges skos:exactMatch mesh:C566028 semapv:UnspecifiedMatching MONDO:0008605 triphalangeal thumb, Nonopposable skos:exactMatch MEDGEN:444008 semapv:UnspecifiedMatching MONDO:0008605 triphalangeal thumb, Nonopposable skos:exactMatch OMIM:190600 triphalangeal thumb, nonopposable semapv:UnspecifiedMatching MONDO:0008605 triphalangeal thumb, Nonopposable skos:exactMatch UMLS:C2931238 semapv:UnspecifiedMatching MONDO:0008605 triphalangeal thumb, Nonopposable skos:exactMatch mesh:C536562 semapv:UnspecifiedMatching MONDO:0008606 Say-field-Coldwell syndrome skos:exactMatch MEDGEN:348711 semapv:UnspecifiedMatching MONDO:0008606 Say-field-Coldwell syndrome skos:exactMatch OMIM:190650 triphalangeal thumbs and dislocation of patella semapv:UnspecifiedMatching MONDO:0008606 Say-field-Coldwell syndrome skos:exactMatch UMLS:C1860805 semapv:UnspecifiedMatching MONDO:0008606 Say-field-Coldwell syndrome skos:exactMatch mesh:C536619 semapv:UnspecifiedMatching MONDO:0008607 triphalangeal thumbs-brachyectrodactyly syndrome skos:exactMatch MEDGEN:348710 semapv:UnspecifiedMatching MONDO:0008607 triphalangeal thumbs-brachyectrodactyly syndrome skos:exactMatch OMIM:190680 triphalangeal thumbs with brachyectrodactyly semapv:UnspecifiedMatching MONDO:0008607 triphalangeal thumbs-brachyectrodactyly syndrome skos:exactMatch Orphanet:2947 Triphalangeal thumbs-brachyectrodactyly syndrome semapv:UnspecifiedMatching MONDO:0008607 triphalangeal thumbs-brachyectrodactyly syndrome skos:exactMatch UMLS:C1860804 semapv:UnspecifiedMatching MONDO:0008607 triphalangeal thumbs-brachyectrodactyly syndrome skos:exactMatch mesh:C536564 semapv:UnspecifiedMatching MONDO:0008608 Down syndrome skos:exactMatch DOID:14250 Down syndrome semapv:UnspecifiedMatching MONDO:0008608 Down syndrome skos:exactMatch EFO:0001064 semapv:UnspecifiedMatching MONDO:0008608 Down syndrome skos:exactMatch ICD10CM:Q90 Down syndrome semapv:UnspecifiedMatching MONDO:0008608 Down syndrome skos:exactMatch ICD10WHO:Q90 Down syndrome semapv:UnspecifiedMatching MONDO:0008608 Down syndrome skos:exactMatch MEDGEN:4385 semapv:UnspecifiedMatching MONDO:0008608 Down syndrome skos:exactMatch NCIT:C2993 Down Syndrome semapv:UnspecifiedMatching MONDO:0008608 Down syndrome skos:exactMatch OMIM:190685 down syndrome semapv:UnspecifiedMatching MONDO:0008608 Down syndrome skos:exactMatch Orphanet:870 Down syndrome semapv:UnspecifiedMatching MONDO:0008608 Down syndrome skos:exactMatch SCTID:41040004 semapv:UnspecifiedMatching MONDO:0008608 Down syndrome skos:exactMatch UMLS:C0013080 semapv:UnspecifiedMatching MONDO:0008608 Down syndrome skos:exactMatch icd11.foundation:1624623908 Complete trisomy 21 semapv:UnspecifiedMatching MONDO:0008608 Down syndrome skos:exactMatch mesh:D004314 semapv:UnspecifiedMatching MONDO:0008609 Tristichiasis skos:exactMatch MEDGEN:349889 semapv:UnspecifiedMatching MONDO:0008609 Tristichiasis skos:exactMatch OMIM:190800 tristichiasis semapv:UnspecifiedMatching MONDO:0008609 Tristichiasis skos:exactMatch UMLS:C1860785 semapv:UnspecifiedMatching MONDO:0008610 blue color blindness skos:exactMatch DOID:11661 blue color blindness semapv:UnspecifiedMatching MONDO:0008610 blue color blindness skos:exactMatch MEDGEN:57827 semapv:UnspecifiedMatching MONDO:0008610 blue color blindness skos:exactMatch OMIM:190900 tritanopia semapv:UnspecifiedMatching MONDO:0008610 blue color blindness skos:exactMatch Orphanet:88629 Tritanopia semapv:UnspecifiedMatching MONDO:0008610 blue color blindness skos:exactMatch SCTID:51886007 semapv:UnspecifiedMatching MONDO:0008610 blue color blindness skos:exactMatch UMLS:C0155017 semapv:UnspecifiedMatching MONDO:0008611 humerus trochlea aplasia skos:exactMatch MEDGEN:348185 semapv:UnspecifiedMatching MONDO:0008611 humerus trochlea aplasia skos:exactMatch OMIM:191000 trochlea of the humerus, aplasia of semapv:UnspecifiedMatching MONDO:0008611 humerus trochlea aplasia skos:exactMatch Orphanet:3383 Humerus trochlea aplasia semapv:UnspecifiedMatching MONDO:0008611 humerus trochlea aplasia skos:exactMatch SCTID:732928005 semapv:UnspecifiedMatching MONDO:0008611 humerus trochlea aplasia skos:exactMatch UMLS:C1860773 semapv:UnspecifiedMatching MONDO:0008611 humerus trochlea aplasia skos:exactMatch mesh:C566022 semapv:UnspecifiedMatching MONDO:0008612 tuberous sclerosis 1 skos:exactMatch DOID:0080324 tuberous sclerosis 1 semapv:UnspecifiedMatching MONDO:0008612 tuberous sclerosis 1 skos:exactMatch MEDGEN:344288 semapv:UnspecifiedMatching MONDO:0008612 tuberous sclerosis 1 skos:exactMatch NCIT:C75122 Tuberous Sclerosis 1 semapv:UnspecifiedMatching MONDO:0008612 tuberous sclerosis 1 skos:exactMatch OMIM:191100 tuberous sclerosis 1 semapv:UnspecifiedMatching MONDO:0008612 tuberous sclerosis 1 skos:exactMatch UMLS:C1854465 semapv:UnspecifiedMatching MONDO:0008612 tuberous sclerosis 1 skos:exactMatch mesh:C565346 semapv:UnspecifiedMatching MONDO:0008613 Tuftsin deficiency skos:exactMatch MEDGEN:98311 semapv:UnspecifiedMatching MONDO:0008613 Tuftsin deficiency skos:exactMatch OMIM:191150 tuftsin deficiency semapv:UnspecifiedMatching MONDO:0008613 Tuftsin deficiency skos:exactMatch SCTID:234584007 semapv:UnspecifiedMatching MONDO:0008613 Tuftsin deficiency skos:exactMatch UMLS:C0398741 semapv:UnspecifiedMatching MONDO:0008613 Tuftsin deficiency skos:exactMatch mesh:C562872 semapv:UnspecifiedMatching MONDO:0008614 suppressor of tumorigenicity 3 skos:exactMatch MEDGEN:348673 semapv:UnspecifiedMatching MONDO:0008614 suppressor of tumorigenicity 3 skos:exactMatch OMIM:191181 suppressor of tumorigenicity 3 semapv:UnspecifiedMatching MONDO:0008614 suppressor of tumorigenicity 3 skos:exactMatch UMLS:C1860658 semapv:UnspecifiedMatching MONDO:0008615 tune deafness skos:exactMatch MEDGEN:349862 semapv:UnspecifiedMatching MONDO:0008615 tune deafness skos:exactMatch OMIM:191200 tune deafness semapv:UnspecifiedMatching MONDO:0008615 tune deafness skos:exactMatch SCTID:55647004 semapv:UnspecifiedMatching MONDO:0008615 tune deafness skos:exactMatch UMLS:C1860646 semapv:UnspecifiedMatching MONDO:0008615 tune deafness skos:exactMatch mesh:C566019 semapv:UnspecifiedMatching MONDO:0008616 obsolete twinning due to superfetation skos:exactMatch OMIM:191250 twinning due to superfetation semapv:UnspecifiedMatching MONDO:0008616 obsolete twinning due to superfetation skos:exactMatch mesh:C566018 semapv:UnspecifiedMatching MONDO:0008617 inflammatory bowel disease 11 skos:exactMatch DOID:0110894 inflammatory bowel disease 11 semapv:UnspecifiedMatching MONDO:0008617 inflammatory bowel disease 11 skos:exactMatch MEDGEN:393069 semapv:UnspecifiedMatching MONDO:0008617 inflammatory bowel disease 11 skos:exactMatch OMIM:191390 inflammatory bowel disease 11 semapv:UnspecifiedMatching MONDO:0008617 inflammatory bowel disease 11 skos:exactMatch UMLS:C2674051 semapv:UnspecifiedMatching MONDO:0008617 inflammatory bowel disease 11 skos:exactMatch mesh:C567154 semapv:UnspecifiedMatching MONDO:0008618 mesomelic dwarfism, Reinhardt-Pfeiffer type skos:exactMatch MEDGEN:395935 semapv:UnspecifiedMatching MONDO:0008618 mesomelic dwarfism, Reinhardt-Pfeiffer type skos:exactMatch OMIM:191400 ulna and fibula, hypoplasia of semapv:UnspecifiedMatching MONDO:0008618 mesomelic dwarfism, Reinhardt-Pfeiffer type skos:exactMatch Orphanet:2634 Mesomelic dwarfism, Reinhardt-Pfeiffer type semapv:UnspecifiedMatching MONDO:0008618 mesomelic dwarfism, Reinhardt-Pfeiffer type skos:exactMatch SCTID:715472000 semapv:UnspecifiedMatching MONDO:0008618 mesomelic dwarfism, Reinhardt-Pfeiffer type skos:exactMatch UMLS:C1860616 semapv:UnspecifiedMatching MONDO:0008618 mesomelic dwarfism, Reinhardt-Pfeiffer type skos:exactMatch icd11.foundation:1393171517 Mesomelic dwarfism, Reinhardt-Pfeiffer type semapv:UnspecifiedMatching MONDO:0008618 mesomelic dwarfism, Reinhardt-Pfeiffer type skos:exactMatch mesh:C537349 semapv:UnspecifiedMatching MONDO:0008619 ulna metaphyseal dysplasia syndrome skos:exactMatch MEDGEN:348149 semapv:UnspecifiedMatching MONDO:0008619 ulna metaphyseal dysplasia syndrome skos:exactMatch OMIM:191420 ulna metaphyseal dysplasia syndrome semapv:UnspecifiedMatching MONDO:0008619 ulna metaphyseal dysplasia syndrome skos:exactMatch Orphanet:1837 Metaphyseal chondrodysplasia, Rosenberg type semapv:UnspecifiedMatching MONDO:0008619 ulna metaphyseal dysplasia syndrome skos:exactMatch SCTID:715242008 semapv:UnspecifiedMatching MONDO:0008619 ulna metaphyseal dysplasia syndrome skos:exactMatch UMLS:C1860615 semapv:UnspecifiedMatching MONDO:0008619 ulna metaphyseal dysplasia syndrome skos:exactMatch icd11.foundation:1343160916 Ulna metaphyseal dysplasia syndrome semapv:UnspecifiedMatching MONDO:0008619 ulna metaphyseal dysplasia syndrome skos:exactMatch mesh:C536935 semapv:UnspecifiedMatching MONDO:0008620 upper limb mesomelic dysplasia skos:exactMatch MEDGEN:1811806 semapv:UnspecifiedMatching MONDO:0008620 upper limb mesomelic dysplasia skos:exactMatch OMIM:191440 ulnar hypoplasia semapv:UnspecifiedMatching MONDO:0008620 upper limb mesomelic dysplasia skos:exactMatch Orphanet:2497 Upper limb mesomelic dysplasia, type Fryns semapv:UnspecifiedMatching MONDO:0008620 upper limb mesomelic dysplasia skos:exactMatch UMLS:C5574958 semapv:UnspecifiedMatching MONDO:0008620 upper limb mesomelic dysplasia skos:exactMatch icd11.foundation:2013121778 Upper limb mesomelic dysplasia semapv:UnspecifiedMatching MONDO:0008620 upper limb mesomelic dysplasia skos:exactMatch mesh:C538069 semapv:UnspecifiedMatching MONDO:0008621 uncombable hair syndrome skos:exactMatch MEDGEN:96596 semapv:UnspecifiedMatching MONDO:0008621 uncombable hair syndrome skos:exactMatch Orphanet:1410 Uncombable hair syndrome semapv:UnspecifiedMatching MONDO:0008621 uncombable hair syndrome skos:exactMatch SCTID:254230001 semapv:UnspecifiedMatching MONDO:0008621 uncombable hair syndrome skos:exactMatch UMLS:C0432347 semapv:UnspecifiedMatching MONDO:0008621 uncombable hair syndrome skos:exactMatch icd11.foundation:244892708 Uncombable hair syndrome semapv:UnspecifiedMatching MONDO:0008621 uncombable hair syndrome skos:exactMatch mesh:C536939 semapv:UnspecifiedMatching MONDO:0008622 tricho-retino-dento-digital syndrome skos:exactMatch MEDGEN:348658 semapv:UnspecifiedMatching MONDO:0008622 tricho-retino-dento-digital syndrome skos:exactMatch OMIM:191482 uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly semapv:UnspecifiedMatching MONDO:0008622 tricho-retino-dento-digital syndrome skos:exactMatch Orphanet:1264 Tricho-retino-dento-digital syndrome semapv:UnspecifiedMatching MONDO:0008622 tricho-retino-dento-digital syndrome skos:exactMatch SCTID:719910004 semapv:UnspecifiedMatching MONDO:0008622 tricho-retino-dento-digital syndrome skos:exactMatch UMLS:C1860605 semapv:UnspecifiedMatching MONDO:0008622 tricho-retino-dento-digital syndrome skos:exactMatch icd11.foundation:200680230 Tricho-retino-dento-digital syndrome semapv:UnspecifiedMatching MONDO:0008622 tricho-retino-dento-digital syndrome skos:exactMatch mesh:C536576 semapv:UnspecifiedMatching MONDO:0008623 Undritz anomaly skos:exactMatch MEDGEN:348657 semapv:UnspecifiedMatching MONDO:0008623 Undritz anomaly skos:exactMatch OMIM:191500 undritz anomaly semapv:UnspecifiedMatching MONDO:0008623 Undritz anomaly skos:exactMatch UMLS:C1860604 semapv:UnspecifiedMatching MONDO:0008623 Undritz anomaly skos:exactMatch mesh:C566014 semapv:UnspecifiedMatching MONDO:0008624 Upington disease skos:exactMatch MEDGEN:348145 semapv:UnspecifiedMatching MONDO:0008624 Upington disease skos:exactMatch OMIM:191520 upington disease semapv:UnspecifiedMatching MONDO:0008624 Upington disease skos:exactMatch Orphanet:3408 Upington disease semapv:UnspecifiedMatching MONDO:0008624 Upington disease skos:exactMatch SCTID:719041000 semapv:UnspecifiedMatching MONDO:0008624 Upington disease skos:exactMatch UMLS:C1860596 semapv:UnspecifiedMatching MONDO:0008624 Upington disease skos:exactMatch icd11.foundation:1846351406 Upington disease semapv:UnspecifiedMatching MONDO:0008624 Upington disease skos:exactMatch mesh:C536472 semapv:UnspecifiedMatching MONDO:0008625 obsolete urate-binding globulin, decrease 1N skos:exactMatch OMIM:191530 urate-binding globulin, decrease 1n semapv:UnspecifiedMatching MONDO:0008625 obsolete urate-binding globulin, decrease 1N skos:exactMatch mesh:C566013 semapv:UnspecifiedMatching MONDO:0008626 ureter, bifid or double skos:exactMatch MEDGEN:348142 semapv:UnspecifiedMatching MONDO:0008626 ureter, bifid or double skos:exactMatch OMIM:191550 ureter, bifid or double semapv:UnspecifiedMatching MONDO:0008626 ureter, bifid or double skos:exactMatch UMLS:C1860586 semapv:UnspecifiedMatching MONDO:0008626 ureter, bifid or double skos:exactMatch mesh:C566012 semapv:UnspecifiedMatching MONDO:0008627 ureter cancer skos:exactMatch DOID:11819 ureter cancer semapv:UnspecifiedMatching MONDO:0008627 ureter cancer skos:exactMatch ICD10CM:C66 Malignant neoplasm of ureter semapv:UnspecifiedMatching MONDO:0008627 ureter cancer skos:exactMatch MEDGEN:102281 semapv:UnspecifiedMatching MONDO:0008627 ureter cancer skos:exactMatch NCIT:C7543 Malignant Ureter Neoplasm semapv:UnspecifiedMatching MONDO:0008627 ureter cancer skos:exactMatch OMIM:191600 ureter, cancer of semapv:UnspecifiedMatching MONDO:0008627 ureter cancer skos:exactMatch SCTID:363458004 semapv:UnspecifiedMatching MONDO:0008627 ureter cancer skos:exactMatch UMLS:C0153619 semapv:UnspecifiedMatching MONDO:0008627 ureter cancer skos:exactMatch mesh:D014516 semapv:UnspecifiedMatching MONDO:0008628 ureterocele skos:exactMatch DOID:4022 ureterocele semapv:UnspecifiedMatching MONDO:0008628 ureterocele skos:exactMatch EFO:1001227 semapv:UnspecifiedMatching MONDO:0008628 ureterocele skos:exactMatch MEDGEN:21778 semapv:UnspecifiedMatching MONDO:0008628 ureterocele skos:exactMatch NCIT:C123159 Ureterocele semapv:UnspecifiedMatching MONDO:0008628 ureterocele skos:exactMatch OMIM:191650 ureterocele semapv:UnspecifiedMatching MONDO:0008628 ureterocele skos:exactMatch SCTID:12818004 semapv:UnspecifiedMatching MONDO:0008628 ureterocele skos:exactMatch UMLS:C0041960 semapv:UnspecifiedMatching MONDO:0008628 ureterocele skos:exactMatch icd11.foundation:408801251 Ureterocele semapv:UnspecifiedMatching MONDO:0008628 ureterocele skos:exactMatch mesh:D014518 semapv:UnspecifiedMatching MONDO:0008629 urolithiasis, uric acid, autosomal dominant skos:exactMatch DOID:0080654 uric acid urolithiasis semapv:UnspecifiedMatching MONDO:0008629 urolithiasis, uric acid, autosomal dominant skos:exactMatch MEDGEN:393068 semapv:UnspecifiedMatching MONDO:0008629 urolithiasis, uric acid, autosomal dominant skos:exactMatch OMIM:191700 urolithiasis, uric acid, autosomal dominant semapv:UnspecifiedMatching MONDO:0008629 urolithiasis, uric acid, autosomal dominant skos:exactMatch UMLS:C2674049 semapv:UnspecifiedMatching MONDO:0008630 urinary bladder, atony of skos:exactMatch MEDGEN:1684829 semapv:UnspecifiedMatching MONDO:0008630 urinary bladder, atony of skos:exactMatch OMIM:191800 bladder dysfunction, autonomic, with impaired pupillary reflex and secondary cakut semapv:UnspecifiedMatching MONDO:0008630 urinary bladder, atony of skos:exactMatch UMLS:C5231389 semapv:UnspecifiedMatching MONDO:0008632 urticaria, aquagenic skos:exactMatch MEDGEN:82663 semapv:UnspecifiedMatching MONDO:0008632 urticaria, aquagenic skos:exactMatch OMIM:191850 urticaria, aquagenic semapv:UnspecifiedMatching MONDO:0008632 urticaria, aquagenic skos:exactMatch SCTID:89870006 semapv:UnspecifiedMatching MONDO:0008632 urticaria, aquagenic skos:exactMatch UMLS:C0263334 semapv:UnspecifiedMatching MONDO:0008632 urticaria, aquagenic skos:exactMatch mesh:C562481 semapv:UnspecifiedMatching MONDO:0008633 Muckle-Wells syndrome skos:exactMatch DOID:0050854 Muckle-Wells syndrome semapv:UnspecifiedMatching MONDO:0008633 Muckle-Wells syndrome skos:exactMatch MEDGEN:120634 semapv:UnspecifiedMatching MONDO:0008633 Muckle-Wells syndrome skos:exactMatch NCIT:C119054 Muckle-Wells Syndrome semapv:UnspecifiedMatching MONDO:0008633 Muckle-Wells syndrome skos:exactMatch OMIM:191900 muckle-wells syndrome semapv:UnspecifiedMatching MONDO:0008633 Muckle-Wells syndrome skos:exactMatch Orphanet:575 Muckle-Wells syndrome semapv:UnspecifiedMatching MONDO:0008633 Muckle-Wells syndrome skos:exactMatch SCTID:402417009 semapv:UnspecifiedMatching MONDO:0008633 Muckle-Wells syndrome skos:exactMatch UMLS:C0268390 semapv:UnspecifiedMatching MONDO:0008633 Muckle-Wells syndrome skos:exactMatch icd11.foundation:1983358487 Muckle-Wells syndrome semapv:UnspecifiedMatching MONDO:0008634 urticaria, familial localized heat skos:exactMatch MEDGEN:395922 semapv:UnspecifiedMatching MONDO:0008634 urticaria, familial localized heat skos:exactMatch OMIM:191950 urticaria, familial localized heat semapv:UnspecifiedMatching MONDO:0008634 urticaria, familial localized heat skos:exactMatch UMLS:C1860551 semapv:UnspecifiedMatching MONDO:0008634 urticaria, familial localized heat skos:exactMatch mesh:C566011 semapv:UnspecifiedMatching MONDO:0008635 uterine anomalies skos:exactMatch MEDGEN:78598 semapv:UnspecifiedMatching MONDO:0008635 uterine anomalies skos:exactMatch OMIM:192000 uterine anomalies semapv:UnspecifiedMatching MONDO:0008635 uterine anomalies skos:exactMatch UMLS:C0266383 semapv:UnspecifiedMatching MONDO:0008635 uterine anomalies skos:exactMatch mesh:C562565 semapv:UnspecifiedMatching MONDO:0008636 double uterus-hemivagina-renal agenesis syndrome skos:exactMatch MEDGEN:348132 semapv:UnspecifiedMatching MONDO:0008636 double uterus-hemivagina-renal agenesis syndrome skos:exactMatch OMIM:192050 uterus bicornis bicollis with partial vaginal septum and unilateral hematocolpos with ipsilateral renal agenesis semapv:UnspecifiedMatching MONDO:0008636 double uterus-hemivagina-renal agenesis syndrome skos:exactMatch Orphanet:3411 Double uterus-hemivagina-renal agenesis syndrome semapv:UnspecifiedMatching MONDO:0008636 double uterus-hemivagina-renal agenesis syndrome skos:exactMatch SCTID:722431007 semapv:UnspecifiedMatching MONDO:0008636 double uterus-hemivagina-renal agenesis syndrome skos:exactMatch UMLS:C1860549 semapv:UnspecifiedMatching MONDO:0008636 double uterus-hemivagina-renal agenesis syndrome skos:exactMatch mesh:C566010 semapv:UnspecifiedMatching MONDO:0008637 bifid uvula skos:exactMatch MEDGEN:1646931 semapv:UnspecifiedMatching MONDO:0008637 bifid uvula skos:exactMatch OMIM:192100 uvula, bifid semapv:UnspecifiedMatching MONDO:0008637 bifid uvula skos:exactMatch Orphanet:99771 Bifid uvula semapv:UnspecifiedMatching MONDO:0008637 bifid uvula skos:exactMatch SCTID:18910001 semapv:UnspecifiedMatching MONDO:0008637 bifid uvula skos:exactMatch UMLS:C4551488 semapv:UnspecifiedMatching MONDO:0008637 bifid uvula skos:exactMatch icd11.foundation:684398038 Cleft uvula semapv:UnspecifiedMatching MONDO:0008638 varicose disease skos:exactMatch DOID:799 varicose veins semapv:UnspecifiedMatching MONDO:0008638 varicose disease skos:exactMatch MEDGEN:21827 semapv:UnspecifiedMatching MONDO:0008638 varicose disease skos:exactMatch NCIT:C35114 Varicose Vein semapv:UnspecifiedMatching MONDO:0008638 varicose disease skos:exactMatch OMIM:192200 varicose veins semapv:UnspecifiedMatching MONDO:0008638 varicose disease skos:exactMatch SCTID:128060009 semapv:UnspecifiedMatching MONDO:0008638 varicose disease skos:exactMatch UMLS:C0042345 semapv:UnspecifiedMatching MONDO:0008638 varicose disease skos:exactMatch mesh:D014648 semapv:UnspecifiedMatching MONDO:0008639 vascular helix of umbilical cord skos:exactMatch MEDGEN:349836 semapv:UnspecifiedMatching MONDO:0008639 vascular helix of umbilical cord skos:exactMatch OMIM:192300 vascular helix of umbilical cord semapv:UnspecifiedMatching MONDO:0008639 vascular helix of umbilical cord skos:exactMatch UMLS:C1860520 semapv:UnspecifiedMatching MONDO:0008640 vasculitis, lymphocytic, nodular skos:exactMatch MEDGEN:348635 semapv:UnspecifiedMatching MONDO:0008640 vasculitis, lymphocytic, nodular skos:exactMatch OMIM:192310 vasculitis, lymphocytic, nodular semapv:UnspecifiedMatching MONDO:0008640 vasculitis, lymphocytic, nodular skos:exactMatch UMLS:C1860519 semapv:UnspecifiedMatching MONDO:0008640 vasculitis, lymphocytic, nodular skos:exactMatch mesh:C566008 semapv:UnspecifiedMatching MONDO:0008641 retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations skos:exactMatch DOID:0111567 retinal vasculopathy with cerebral leukodystrophy semapv:UnspecifiedMatching MONDO:0008641 retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations skos:exactMatch MEDGEN:348124 semapv:UnspecifiedMatching MONDO:0008641 retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations skos:exactMatch OMIM:192315 vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations semapv:UnspecifiedMatching MONDO:0008641 retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations skos:exactMatch Orphanet:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations semapv:UnspecifiedMatching MONDO:0008641 retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations skos:exactMatch SCTID:720854004 semapv:UnspecifiedMatching MONDO:0008641 retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations skos:exactMatch UMLS:C1860518 semapv:UnspecifiedMatching MONDO:0008641 retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations skos:exactMatch icd11.foundation:554838792 Retinal vasculopathy and cerebral leukodystrophy semapv:UnspecifiedMatching MONDO:0008641 retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations skos:exactMatch mesh:C566007 semapv:UnspecifiedMatching MONDO:0008642 VACTERL/vater association skos:exactMatch DOID:14679 VACTERL association semapv:UnspecifiedMatching MONDO:0008642 VACTERL/vater association skos:exactMatch MEDGEN:902479 semapv:UnspecifiedMatching MONDO:0008642 VACTERL/vater association skos:exactMatch NCIT:C99105 VACTERL Association semapv:UnspecifiedMatching MONDO:0008642 VACTERL/vater association skos:exactMatch OMIM:192350 vater/vacterl association semapv:UnspecifiedMatching MONDO:0008642 VACTERL/vater association skos:exactMatch Orphanet:887 VACTERL/VATER association semapv:UnspecifiedMatching MONDO:0008642 VACTERL/vater association skos:exactMatch SCTID:27742002 semapv:UnspecifiedMatching MONDO:0008642 VACTERL/vater association skos:exactMatch UMLS:C4225671 semapv:UnspecifiedMatching MONDO:0008642 VACTERL/vater association skos:exactMatch icd11.foundation:1452617987 VATER association semapv:UnspecifiedMatching MONDO:0008643 veins, pattern of, on anterior thorax skos:exactMatch MEDGEN:348117 semapv:UnspecifiedMatching MONDO:0008643 veins, pattern of, on anterior thorax skos:exactMatch OMIM:192400 veins, pattern of, on anterior thorax semapv:UnspecifiedMatching MONDO:0008643 veins, pattern of, on anterior thorax skos:exactMatch UMLS:C1860490 semapv:UnspecifiedMatching MONDO:0008644 velocardiofacial syndrome skos:exactMatch DOID:12583 velocardiofacial syndrome semapv:UnspecifiedMatching MONDO:0008644 velocardiofacial syndrome skos:exactMatch MEDGEN:65085 semapv:UnspecifiedMatching MONDO:0008644 velocardiofacial syndrome skos:exactMatch OMIM:192430 velocardiofacial syndrome semapv:UnspecifiedMatching MONDO:0008644 velocardiofacial syndrome skos:exactMatch UMLS:C0220704 semapv:UnspecifiedMatching MONDO:0008645 ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome skos:exactMatch MEDGEN:395493 semapv:UnspecifiedMatching MONDO:0008645 ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome skos:exactMatch OMIM:192445 ventricular extrasystoles with syncope, perodactyly, and robin sequence semapv:UnspecifiedMatching MONDO:0008645 ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome skos:exactMatch Orphanet:3201 Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome semapv:UnspecifiedMatching MONDO:0008645 ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome skos:exactMatch SCTID:719823007 semapv:UnspecifiedMatching MONDO:0008645 ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome skos:exactMatch UMLS:C1860471 semapv:UnspecifiedMatching MONDO:0008645 ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome skos:exactMatch mesh:C537497 semapv:UnspecifiedMatching MONDO:0008647 hypertrophic cardiomyopathy 1 skos:exactMatch DOID:0110307 hypertrophic cardiomyopathy 1 semapv:UnspecifiedMatching MONDO:0008647 hypertrophic cardiomyopathy 1 skos:exactMatch MEDGEN:501195 semapv:UnspecifiedMatching MONDO:0008647 hypertrophic cardiomyopathy 1 skos:exactMatch OMIM:192600 cardiomyopathy, familial hypertrophic, 1 semapv:UnspecifiedMatching MONDO:0008647 hypertrophic cardiomyopathy 1 skos:exactMatch UMLS:C3495498 semapv:UnspecifiedMatching MONDO:0008648 ventricular tachycardia, familial skos:exactMatch MEDGEN:83309 semapv:UnspecifiedMatching MONDO:0008648 ventricular tachycardia, familial skos:exactMatch OMIM:192605 ventricular tachycardia, familial semapv:UnspecifiedMatching MONDO:0008648 ventricular tachycardia, familial skos:exactMatch SCTID:233906007 semapv:UnspecifiedMatching MONDO:0008648 ventricular tachycardia, familial skos:exactMatch UMLS:C0340485 semapv:UnspecifiedMatching MONDO:0008649 venular insufficiency, systemic skos:exactMatch MEDGEN:348623 semapv:UnspecifiedMatching MONDO:0008649 venular insufficiency, systemic skos:exactMatch OMIM:192700 venular insufficiency, systemic semapv:UnspecifiedMatching MONDO:0008649 venular insufficiency, systemic skos:exactMatch UMLS:C1860465 semapv:UnspecifiedMatching MONDO:0008649 venular insufficiency, systemic skos:exactMatch mesh:C566004 semapv:UnspecifiedMatching MONDO:0008650 posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome skos:exactMatch MEDGEN:348108 semapv:UnspecifiedMatching MONDO:0008650 posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome skos:exactMatch OMIM:192800 vertebral fusion, posterior lumbosacral, with blepharoptosis semapv:UnspecifiedMatching MONDO:0008650 posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome skos:exactMatch Orphanet:2064 Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome semapv:UnspecifiedMatching MONDO:0008650 posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome skos:exactMatch SCTID:724064004 semapv:UnspecifiedMatching MONDO:0008650 posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome skos:exactMatch UMLS:C1860464 semapv:UnspecifiedMatching MONDO:0008650 posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome skos:exactMatch mesh:C536344 semapv:UnspecifiedMatching MONDO:0008651 vertebral hypoplasia with lumbar kyphosis skos:exactMatch MEDGEN:348622 semapv:UnspecifiedMatching MONDO:0008651 vertebral hypoplasia with lumbar kyphosis skos:exactMatch OMIM:192900 vertebral hypoplasia with lumbar kyphosis semapv:UnspecifiedMatching MONDO:0008651 vertebral hypoplasia with lumbar kyphosis skos:exactMatch UMLS:C1860463 semapv:UnspecifiedMatching MONDO:0008651 vertebral hypoplasia with lumbar kyphosis skos:exactMatch mesh:C566002 semapv:UnspecifiedMatching MONDO:0008652 congenital vertical talus skos:exactMatch DOID:0111568 congenital vertical talus semapv:UnspecifiedMatching MONDO:0008652 congenital vertical talus skos:exactMatch MEDGEN:66821 semapv:UnspecifiedMatching MONDO:0008652 congenital vertical talus skos:exactMatch OMIM:192950 vertical talus, congenital semapv:UnspecifiedMatching MONDO:0008652 congenital vertical talus skos:exactMatch Orphanet:178382 Congenital vertical talus semapv:UnspecifiedMatching MONDO:0008652 congenital vertical talus skos:exactMatch SCTID:205082007 semapv:UnspecifiedMatching MONDO:0008652 congenital vertical talus skos:exactMatch UMLS:C0240912 semapv:UnspecifiedMatching MONDO:0008652 congenital vertical talus skos:exactMatch icd11.foundation:1525079646 Congenital vertical talus semapv:UnspecifiedMatching MONDO:0008652 congenital vertical talus skos:exactMatch mesh:C536345 semapv:UnspecifiedMatching MONDO:0008653 vesicoureteral reflux 1 skos:exactMatch MEDGEN:1644868 semapv:UnspecifiedMatching MONDO:0008653 vesicoureteral reflux 1 skos:exactMatch OMIM:193000 vesicoureteral reflux 1 semapv:UnspecifiedMatching MONDO:0008653 vesicoureteral reflux 1 skos:exactMatch UMLS:C4551858 semapv:UnspecifiedMatching MONDO:0008654 spinocerebellar ataxia 27A skos:exactMatch OMIM:193003 spinocerebellar ataxia 27a semapv:UnspecifiedMatching MONDO:0008654 spinocerebellar ataxia 27A skos:exactMatch mesh:C537856 semapv:UnspecifiedMatching MONDO:0008655 vestibulocochlear dysfunction, progressive skos:exactMatch MEDGEN:419730 semapv:UnspecifiedMatching MONDO:0008655 vestibulocochlear dysfunction, progressive skos:exactMatch OMIM:193005 vestibulocochlear dysfunction, progressive semapv:UnspecifiedMatching MONDO:0008655 vestibulocochlear dysfunction, progressive skos:exactMatch UMLS:C2931176 semapv:UnspecifiedMatching MONDO:0008655 vestibulocochlear dysfunction, progressive skos:exactMatch mesh:C536346 semapv:UnspecifiedMatching MONDO:0008658 obsolete virus Rd114 RNA Complementarity skos:exactMatch OMIM:193070 virus rd114 RNA complementarity semapv:UnspecifiedMatching MONDO:0008659 transcobalamin I deficiency skos:exactMatch MEDGEN:90993 semapv:UnspecifiedMatching MONDO:0008659 transcobalamin I deficiency skos:exactMatch OMIM:193090 transcobalamin 1 deficiency semapv:UnspecifiedMatching MONDO:0008659 transcobalamin I deficiency skos:exactMatch Orphanet:2967 Transcobalamin I deficiency semapv:UnspecifiedMatching MONDO:0008659 transcobalamin I deficiency skos:exactMatch SCTID:237933007 semapv:UnspecifiedMatching MONDO:0008659 transcobalamin I deficiency skos:exactMatch UMLS:C0342700 semapv:UnspecifiedMatching MONDO:0008659 transcobalamin I deficiency skos:exactMatch mesh:C562798 semapv:UnspecifiedMatching MONDO:0008660 autosomal dominant hypophosphatemic rickets skos:exactMatch DOID:0050948 autosomal dominant hypophosphatemic rickets semapv:UnspecifiedMatching MONDO:0008660 autosomal dominant hypophosphatemic rickets skos:exactMatch MEDGEN:83346 semapv:UnspecifiedMatching MONDO:0008660 autosomal dominant hypophosphatemic rickets skos:exactMatch OMIM:193100 hypophosphatemic rickets, autosomal dominant semapv:UnspecifiedMatching MONDO:0008660 autosomal dominant hypophosphatemic rickets skos:exactMatch Orphanet:89937 Autosomal dominant hypophosphatemic rickets semapv:UnspecifiedMatching MONDO:0008660 autosomal dominant hypophosphatemic rickets skos:exactMatch SCTID:237889002 semapv:UnspecifiedMatching MONDO:0008660 autosomal dominant hypophosphatemic rickets skos:exactMatch UMLS:C0342642 semapv:UnspecifiedMatching MONDO:0008660 autosomal dominant hypophosphatemic rickets skos:exactMatch mesh:C562791 semapv:UnspecifiedMatching MONDO:0008661 vitiligo skos:exactMatch DOID:12306 vitiligo semapv:UnspecifiedMatching MONDO:0008661 vitiligo skos:exactMatch EFO:0004208 semapv:UnspecifiedMatching MONDO:0008661 vitiligo skos:exactMatch ICD10CM:L80 Vitiligo semapv:UnspecifiedMatching MONDO:0008661 vitiligo skos:exactMatch ICD10WHO:L80 Vitiligo semapv:UnspecifiedMatching MONDO:0008661 vitiligo skos:exactMatch MEDGEN:22677 semapv:UnspecifiedMatching MONDO:0008661 vitiligo skos:exactMatch NCIT:C26915 Vitiligo semapv:UnspecifiedMatching MONDO:0008661 vitiligo skos:exactMatch UMLS:C0042900 semapv:UnspecifiedMatching MONDO:0008661 vitiligo skos:exactMatch icd11.foundation:1894744640 Vitiligo semapv:UnspecifiedMatching MONDO:0008661 vitiligo skos:exactMatch mesh:D014820 semapv:UnspecifiedMatching MONDO:0008662 autosomal dominant vitreoretinochoroidopathy skos:exactMatch DOID:0111569 autosomal dominant vitreoretinochoroidopathy semapv:UnspecifiedMatching MONDO:0008662 autosomal dominant vitreoretinochoroidopathy skos:exactMatch MEDGEN:854768 semapv:UnspecifiedMatching MONDO:0008662 autosomal dominant vitreoretinochoroidopathy skos:exactMatch OMIM:193220 vitreoretinochoroidopathy semapv:UnspecifiedMatching MONDO:0008662 autosomal dominant vitreoretinochoroidopathy skos:exactMatch Orphanet:3086 Autosomal dominant vitreoretinochoroidopathy semapv:UnspecifiedMatching MONDO:0008662 autosomal dominant vitreoretinochoroidopathy skos:exactMatch SCTID:711162004 semapv:UnspecifiedMatching MONDO:0008662 autosomal dominant vitreoretinochoroidopathy skos:exactMatch UMLS:C3888099 semapv:UnspecifiedMatching MONDO:0008662 autosomal dominant vitreoretinochoroidopathy skos:exactMatch icd11.foundation:96951767 Autosomal dominant vitreoretinochoroidopathy semapv:UnspecifiedMatching MONDO:0008662 autosomal dominant vitreoretinochoroidopathy skos:exactMatch mesh:C536352 semapv:UnspecifiedMatching MONDO:0008663 snowflake vitreoretinal degeneration skos:exactMatch DOID:0111570 snowflake vitreoretinal degeneration semapv:UnspecifiedMatching MONDO:0008663 snowflake vitreoretinal degeneration skos:exactMatch MEDGEN:395476 semapv:UnspecifiedMatching MONDO:0008663 snowflake vitreoretinal degeneration skos:exactMatch OMIM:193230 vitreoretinal degeneration, snowflake type semapv:UnspecifiedMatching MONDO:0008663 snowflake vitreoretinal degeneration skos:exactMatch Orphanet:91496 Snowflake vitreoretinal degeneration semapv:UnspecifiedMatching MONDO:0008663 snowflake vitreoretinal degeneration skos:exactMatch UMLS:C1860405 semapv:UnspecifiedMatching MONDO:0008663 snowflake vitreoretinal degeneration skos:exactMatch icd11.foundation:282570444 Snowflake vitreoretinal degeneration semapv:UnspecifiedMatching MONDO:0008663 snowflake vitreoretinal degeneration skos:exactMatch mesh:C536677 semapv:UnspecifiedMatching MONDO:0008665 ptosis-vocal cord paralysis syndrome skos:exactMatch MEDGEN:349807 semapv:UnspecifiedMatching MONDO:0008665 ptosis-vocal cord paralysis syndrome skos:exactMatch OMIM:193240 vocal cord paralysis and ptosis semapv:UnspecifiedMatching MONDO:0008665 ptosis-vocal cord paralysis syndrome skos:exactMatch Orphanet:2997 Ptosis-vocal cord paralysis syndrome semapv:UnspecifiedMatching MONDO:0008665 ptosis-vocal cord paralysis syndrome skos:exactMatch UMLS:C1860403 semapv:UnspecifiedMatching MONDO:0008665 ptosis-vocal cord paralysis syndrome skos:exactMatch mesh:C536923 semapv:UnspecifiedMatching MONDO:0008666 volvulus of midgut skos:exactMatch MEDGEN:113153 semapv:UnspecifiedMatching MONDO:0008666 volvulus of midgut skos:exactMatch NCIT:C98961 Intestinal Malrotation semapv:UnspecifiedMatching MONDO:0008666 volvulus of midgut skos:exactMatch OMIM:193250 volvulus of midgut semapv:UnspecifiedMatching MONDO:0008666 volvulus of midgut skos:exactMatch Orphanet:508410 Familial intestinal malrotation semapv:UnspecifiedMatching MONDO:0008666 volvulus of midgut skos:exactMatch SCTID:458422009 semapv:UnspecifiedMatching MONDO:0008666 volvulus of midgut skos:exactMatch UMLS:C0221210 semapv:UnspecifiedMatching MONDO:0008666 volvulus of midgut skos:exactMatch mesh:C562456 semapv:UnspecifiedMatching MONDO:0008667 von Hippel-Lindau disease skos:exactMatch DOID:14175 von Hippel-Lindau disease semapv:UnspecifiedMatching MONDO:0008667 von Hippel-Lindau disease skos:exactMatch MEDGEN:42458 semapv:UnspecifiedMatching MONDO:0008667 von Hippel-Lindau disease skos:exactMatch NCIT:C3105 Von Hippel Lindau Syndrome semapv:UnspecifiedMatching MONDO:0008667 von Hippel-Lindau disease skos:exactMatch OMIM:193300 von hippel-lindau syndrome semapv:UnspecifiedMatching MONDO:0008667 von Hippel-Lindau disease skos:exactMatch Orphanet:892 Von Hippel-Lindau disease semapv:UnspecifiedMatching MONDO:0008667 von Hippel-Lindau disease skos:exactMatch SCTID:46659004 semapv:UnspecifiedMatching MONDO:0008667 von Hippel-Lindau disease skos:exactMatch UMLS:C0019562 semapv:UnspecifiedMatching MONDO:0008667 von Hippel-Lindau disease skos:exactMatch icd11.foundation:1985408165 Von Hippel-Lindau disease semapv:UnspecifiedMatching MONDO:0008667 von Hippel-Lindau disease skos:exactMatch mesh:D006623 semapv:UnspecifiedMatching MONDO:0008668 von Willebrand disease 1 skos:exactMatch DOID:0060573 von Willebrand's disease 1 semapv:UnspecifiedMatching MONDO:0008668 von Willebrand disease 1 skos:exactMatch MEDGEN:220393 semapv:UnspecifiedMatching MONDO:0008668 von Willebrand disease 1 skos:exactMatch NCIT:C131685 von Willebrand Disease, Type 1 semapv:UnspecifiedMatching MONDO:0008668 von Willebrand disease 1 skos:exactMatch OMIM:193400 von willebrand disease, type 1 semapv:UnspecifiedMatching MONDO:0008668 von Willebrand disease 1 skos:exactMatch Orphanet:166078 Von Willebrand disease type 1 semapv:UnspecifiedMatching MONDO:0008668 von Willebrand disease 1 skos:exactMatch SCTID:128106003 semapv:UnspecifiedMatching MONDO:0008668 von Willebrand disease 1 skos:exactMatch UMLS:C1264039 semapv:UnspecifiedMatching MONDO:0008668 von Willebrand disease 1 skos:exactMatch mesh:D056725 semapv:UnspecifiedMatching MONDO:0008669 vulvovaginitis, allergic seminal skos:exactMatch MEDGEN:348089 semapv:UnspecifiedMatching MONDO:0008669 vulvovaginitis, allergic seminal skos:exactMatch OMIM:193450 vulvovaginitis, allergic seminal semapv:UnspecifiedMatching MONDO:0008669 vulvovaginitis, allergic seminal skos:exactMatch UMLS:C1860357 semapv:UnspecifiedMatching MONDO:0008669 vulvovaginitis, allergic seminal skos:exactMatch mesh:C565993 semapv:UnspecifiedMatching MONDO:0008670 Waardenburg syndrome type 1 skos:exactMatch DOID:0110948 Waardenburg syndrome type 1 semapv:UnspecifiedMatching MONDO:0008670 Waardenburg syndrome type 1 skos:exactMatch MEDGEN:376211 semapv:UnspecifiedMatching MONDO:0008670 Waardenburg syndrome type 1 skos:exactMatch NCIT:C75008 Waardenburg Syndrome Type 1 semapv:UnspecifiedMatching MONDO:0008670 Waardenburg syndrome type 1 skos:exactMatch OMIM:193500 waardenburg syndrome, type 1 semapv:UnspecifiedMatching MONDO:0008670 Waardenburg syndrome type 1 skos:exactMatch Orphanet:894 Waardenburg syndrome type 1 semapv:UnspecifiedMatching MONDO:0008670 Waardenburg syndrome type 1 skos:exactMatch UMLS:C1847800 semapv:UnspecifiedMatching MONDO:0008670 Waardenburg syndrome type 1 skos:exactMatch icd11.foundation:547536187 Waardenburg syndrome type 1 semapv:UnspecifiedMatching MONDO:0008671 Waardenburg syndrome type 2A skos:exactMatch DOID:0110950 Waardenburg syndrome type 2A semapv:UnspecifiedMatching MONDO:0008671 Waardenburg syndrome type 2A skos:exactMatch MEDGEN:349786 semapv:UnspecifiedMatching MONDO:0008671 Waardenburg syndrome type 2A skos:exactMatch NCIT:C75011 Waardenburg Syndrome Type 2A semapv:UnspecifiedMatching MONDO:0008671 Waardenburg syndrome type 2A skos:exactMatch OMIM:193510 waardenburg syndrome, type 2a semapv:UnspecifiedMatching MONDO:0008671 Waardenburg syndrome type 2A skos:exactMatch UMLS:C1860339 semapv:UnspecifiedMatching MONDO:0008671 Waardenburg syndrome type 2A skos:exactMatch mesh:C536464 semapv:UnspecifiedMatching MONDO:0008672 Watson syndrome skos:exactMatch DOID:0070483 Watson syndrome semapv:UnspecifiedMatching MONDO:0008672 Watson syndrome skos:exactMatch MEDGEN:107817 semapv:UnspecifiedMatching MONDO:0008672 Watson syndrome skos:exactMatch OMIM:193520 watson syndrome semapv:UnspecifiedMatching MONDO:0008672 Watson syndrome skos:exactMatch SCTID:403820003 semapv:UnspecifiedMatching MONDO:0008672 Watson syndrome skos:exactMatch UMLS:C0553586 semapv:UnspecifiedMatching MONDO:0008672 Watson syndrome skos:exactMatch icd11.foundation:1674178232 Watson syndrome semapv:UnspecifiedMatching MONDO:0008673 acrofacial dysostosis, Weyers type skos:exactMatch DOID:0111571 Weyers acrofacial dysostosis semapv:UnspecifiedMatching MONDO:0008673 acrofacial dysostosis, Weyers type skos:exactMatch MEDGEN:141594 semapv:UnspecifiedMatching MONDO:0008673 acrofacial dysostosis, Weyers type skos:exactMatch OMIM:193530 weyers acrofacial dysostosis semapv:UnspecifiedMatching MONDO:0008673 acrofacial dysostosis, Weyers type skos:exactMatch Orphanet:952 Acrofacial dysostosis, Weyers type semapv:UnspecifiedMatching MONDO:0008673 acrofacial dysostosis, Weyers type skos:exactMatch SCTID:277807007 semapv:UnspecifiedMatching MONDO:0008673 acrofacial dysostosis, Weyers type skos:exactMatch UMLS:C0457013 semapv:UnspecifiedMatching MONDO:0008673 acrofacial dysostosis, Weyers type skos:exactMatch icd11.foundation:547338814 Acrofacial dysostosis, Weyers type semapv:UnspecifiedMatching MONDO:0008673 acrofacial dysostosis, Weyers type skos:exactMatch mesh:C536695 semapv:UnspecifiedMatching MONDO:0008675 Freeman-Sheldon syndrome skos:exactMatch DOID:0111604 Freeman-Sheldon syndrome semapv:UnspecifiedMatching MONDO:0008675 Freeman-Sheldon syndrome skos:exactMatch DOID:0111605 distal arthrogryposis type 2A semapv:UnspecifiedMatching MONDO:0008675 Freeman-Sheldon syndrome skos:exactMatch MEDGEN:120516 semapv:UnspecifiedMatching MONDO:0008675 Freeman-Sheldon syndrome skos:exactMatch NCIT:C98931 Freeman-Sheldon Syndrome semapv:UnspecifiedMatching MONDO:0008675 Freeman-Sheldon syndrome skos:exactMatch OMIM:193700 arthrogryposis, distal, type 2a semapv:UnspecifiedMatching MONDO:0008675 Freeman-Sheldon syndrome skos:exactMatch Orphanet:2053 Freeman-Sheldon syndrome semapv:UnspecifiedMatching MONDO:0008675 Freeman-Sheldon syndrome skos:exactMatch SCTID:52616002 semapv:UnspecifiedMatching MONDO:0008675 Freeman-Sheldon syndrome skos:exactMatch UMLS:C0265224 semapv:UnspecifiedMatching MONDO:0008675 Freeman-Sheldon syndrome skos:exactMatch icd11.foundation:1314169421 Freeman-Sheldon syndrome semapv:UnspecifiedMatching MONDO:0008675 Freeman-Sheldon syndrome skos:exactMatch mesh:C535483 semapv:UnspecifiedMatching MONDO:0008676 white sponge nevus 1 skos:exactMatch DOID:0081287 white sponge nevus 1 semapv:UnspecifiedMatching MONDO:0008676 white sponge nevus 1 skos:exactMatch MEDGEN:860363 semapv:UnspecifiedMatching MONDO:0008676 white sponge nevus 1 skos:exactMatch OMIM:193900 white sponge nevus 1 semapv:UnspecifiedMatching MONDO:0008676 white sponge nevus 1 skos:exactMatch UMLS:C4011926 semapv:UnspecifiedMatching MONDO:0008677 obsolete widow's peak skos:exactMatch OMIM:194000 widow's peak semapv:UnspecifiedMatching MONDO:0008678 Williams syndrome skos:exactMatch DOID:1928 Williams-Beuren syndrome semapv:UnspecifiedMatching MONDO:0008678 Williams syndrome skos:exactMatch ICD10CM:Q93.82 Williams syndrome semapv:UnspecifiedMatching MONDO:0008678 Williams syndrome skos:exactMatch MEDGEN:59799 semapv:UnspecifiedMatching MONDO:0008678 Williams syndrome skos:exactMatch NCIT:C85232 Williams Syndrome semapv:UnspecifiedMatching MONDO:0008678 Williams syndrome skos:exactMatch OMIM:194050 williams-beuren syndrome semapv:UnspecifiedMatching MONDO:0008678 Williams syndrome skos:exactMatch Orphanet:904 Williams syndrome semapv:UnspecifiedMatching MONDO:0008678 Williams syndrome skos:exactMatch SCTID:63247009 semapv:UnspecifiedMatching MONDO:0008678 Williams syndrome skos:exactMatch UMLS:C0175702 semapv:UnspecifiedMatching MONDO:0008678 Williams syndrome skos:exactMatch mesh:D018980 semapv:UnspecifiedMatching MONDO:0008679 Wilms tumor 1 skos:exactMatch OMIM:194070 wilms tumor 1 semapv:UnspecifiedMatching MONDO:0008680 Wilms tumor 2 skos:exactMatch MEDGEN:854562 semapv:UnspecifiedMatching MONDO:0008680 Wilms tumor 2 skos:exactMatch OMIM:194071 wilms tumor 2 semapv:UnspecifiedMatching MONDO:0008680 Wilms tumor 2 skos:exactMatch UMLS:C3887743 semapv:UnspecifiedMatching MONDO:0008680 Wilms tumor 2 skos:exactMatch mesh:C536853 semapv:UnspecifiedMatching MONDO:0008681 WAGR syndrome skos:exactMatch DOID:14515 WAGR syndrome semapv:UnspecifiedMatching MONDO:0008681 WAGR syndrome skos:exactMatch MEDGEN:64512 semapv:UnspecifiedMatching MONDO:0008681 WAGR syndrome skos:exactMatch NCIT:C3718 WAGR Syndrome semapv:UnspecifiedMatching MONDO:0008681 WAGR syndrome skos:exactMatch OMIM:194072 wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndrome semapv:UnspecifiedMatching MONDO:0008681 WAGR syndrome skos:exactMatch Orphanet:893 WAGR syndrome semapv:UnspecifiedMatching MONDO:0008681 WAGR syndrome skos:exactMatch SCTID:715215007 semapv:UnspecifiedMatching MONDO:0008681 WAGR syndrome skos:exactMatch UMLS:C0206115 semapv:UnspecifiedMatching MONDO:0008681 WAGR syndrome skos:exactMatch icd11.foundation:1858307812 WAGR syndrome semapv:UnspecifiedMatching MONDO:0008681 WAGR syndrome skos:exactMatch mesh:D017624 semapv:UnspecifiedMatching MONDO:0008682 Denys-Drash syndrome skos:exactMatch DOID:3764 Denys-Drash syndrome semapv:UnspecifiedMatching MONDO:0008682 Denys-Drash syndrome skos:exactMatch MEDGEN:181980 semapv:UnspecifiedMatching MONDO:0008682 Denys-Drash syndrome skos:exactMatch NCIT:C84668 Denys-Drash Syndrome semapv:UnspecifiedMatching MONDO:0008682 Denys-Drash syndrome skos:exactMatch OMIM:194080 denys-drash syndrome semapv:UnspecifiedMatching MONDO:0008682 Denys-Drash syndrome skos:exactMatch Orphanet:220 Denys-Drash syndrome semapv:UnspecifiedMatching MONDO:0008682 Denys-Drash syndrome skos:exactMatch SCTID:236385009 semapv:UnspecifiedMatching MONDO:0008682 Denys-Drash syndrome skos:exactMatch UMLS:C0950121 semapv:UnspecifiedMatching MONDO:0008682 Denys-Drash syndrome skos:exactMatch icd11.foundation:904981302 Denys-Drash syndrome semapv:UnspecifiedMatching MONDO:0008682 Denys-Drash syndrome skos:exactMatch mesh:D030321 semapv:UnspecifiedMatching MONDO:0008683 Wilms tumor 3 skos:exactMatch MEDGEN:349770 semapv:UnspecifiedMatching MONDO:0008683 Wilms tumor 3 skos:exactMatch OMIM:194090 wilms tumor 3 semapv:UnspecifiedMatching MONDO:0008683 Wilms tumor 3 skos:exactMatch UMLS:C1860265 semapv:UnspecifiedMatching MONDO:0008683 Wilms tumor 3 skos:exactMatch mesh:C565991 semapv:UnspecifiedMatching MONDO:0008684 Wolf-Hirschhorn syndrome skos:exactMatch DOID:0050460 Wolf-Hirschhorn syndrome semapv:UnspecifiedMatching MONDO:0008684 Wolf-Hirschhorn syndrome skos:exactMatch MEDGEN:408255 semapv:UnspecifiedMatching MONDO:0008684 Wolf-Hirschhorn syndrome skos:exactMatch NCIT:C35528 Wolf-Hirschhorn Syndrome semapv:UnspecifiedMatching MONDO:0008684 Wolf-Hirschhorn syndrome skos:exactMatch OMIM:194190 wolf-hirschhorn syndrome semapv:UnspecifiedMatching MONDO:0008684 Wolf-Hirschhorn syndrome skos:exactMatch Orphanet:280 Wolf-Hirschhorn syndrome semapv:UnspecifiedMatching MONDO:0008684 Wolf-Hirschhorn syndrome skos:exactMatch SCTID:718226002 semapv:UnspecifiedMatching MONDO:0008684 Wolf-Hirschhorn syndrome skos:exactMatch UMLS:C1956097 semapv:UnspecifiedMatching MONDO:0008684 Wolf-Hirschhorn syndrome skos:exactMatch icd11.foundation:1337401724 Wolf-Hirschhorn syndrome semapv:UnspecifiedMatching MONDO:0008684 Wolf-Hirschhorn syndrome skos:exactMatch mesh:D054877 semapv:UnspecifiedMatching MONDO:0008685 Wolff-Parkinson-White syndrome skos:exactMatch DOID:384 Wolff-Parkinson-White syndrome semapv:UnspecifiedMatching MONDO:0008685 Wolff-Parkinson-White syndrome skos:exactMatch EFO:1001450 semapv:UnspecifiedMatching MONDO:0008685 Wolff-Parkinson-White syndrome skos:exactMatch MEDGEN:12162 semapv:UnspecifiedMatching MONDO:0008685 Wolff-Parkinson-White syndrome skos:exactMatch NCIT:C35132 Wolff-Parkinson-White Syndrome semapv:UnspecifiedMatching MONDO:0008685 Wolff-Parkinson-White syndrome skos:exactMatch OMIM:194200 wolff-parkinson-white syndrome semapv:UnspecifiedMatching MONDO:0008685 Wolff-Parkinson-White syndrome skos:exactMatch SCTID:17869006 semapv:UnspecifiedMatching MONDO:0008685 Wolff-Parkinson-White syndrome skos:exactMatch UMLS:C0043202 semapv:UnspecifiedMatching MONDO:0008685 Wolff-Parkinson-White syndrome skos:exactMatch icd11.foundation:1091030330 Wolff-Parkinson-White syndrome semapv:UnspecifiedMatching MONDO:0008685 Wolff-Parkinson-White syndrome skos:exactMatch mesh:D014927 semapv:UnspecifiedMatching MONDO:0008686 isolated familial wooly hair disorder skos:exactMatch DOID:0111572 familial woolly hair syndrome semapv:UnspecifiedMatching MONDO:0008686 isolated familial wooly hair disorder skos:exactMatch MEDGEN:87469 semapv:UnspecifiedMatching MONDO:0008686 isolated familial wooly hair disorder skos:exactMatch Orphanet:170 Woolly hair semapv:UnspecifiedMatching MONDO:0008686 isolated familial wooly hair disorder skos:exactMatch SCTID:52564001 semapv:UnspecifiedMatching MONDO:0008686 isolated familial wooly hair disorder skos:exactMatch UMLS:C0343073 semapv:UnspecifiedMatching MONDO:0008686 isolated familial wooly hair disorder skos:exactMatch mesh:C536745 semapv:UnspecifiedMatching MONDO:0008687 Woronets trait skos:exactMatch MEDGEN:348570 semapv:UnspecifiedMatching MONDO:0008687 Woronets trait skos:exactMatch OMIM:194320 woronets trait semapv:UnspecifiedMatching MONDO:0008687 Woronets trait skos:exactMatch UMLS:C1860237 semapv:UnspecifiedMatching MONDO:0008688 WT limb-blood syndrome skos:exactMatch MEDGEN:231231 semapv:UnspecifiedMatching MONDO:0008688 WT limb-blood syndrome skos:exactMatch OMIM:194350 wt limb-blood syndrome semapv:UnspecifiedMatching MONDO:0008688 WT limb-blood syndrome skos:exactMatch Orphanet:3466 WT limb-blood syndrome semapv:UnspecifiedMatching MONDO:0008688 WT limb-blood syndrome skos:exactMatch SCTID:719019000 semapv:UnspecifiedMatching MONDO:0008688 WT limb-blood syndrome skos:exactMatch UMLS:C1327917 semapv:UnspecifiedMatching MONDO:0008688 WT limb-blood syndrome skos:exactMatch icd11.foundation:1407849410 WT limb-blood syndrome semapv:UnspecifiedMatching MONDO:0008688 WT limb-blood syndrome skos:exactMatch mesh:C536751 semapv:UnspecifiedMatching MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema skos:exactMatch DOID:0111576 dehydrated hereditary stomatocytosis 1 semapv:UnspecifiedMatching MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema skos:exactMatch MEDGEN:1638271 semapv:UnspecifiedMatching MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema skos:exactMatch OMIM:194380 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema semapv:UnspecifiedMatching MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema skos:exactMatch UMLS:C4551512 semapv:UnspecifiedMatching MONDO:0008690 xeroderma pigmentosum, autosomal dominant, mild skos:exactMatch MEDGEN:395440 semapv:UnspecifiedMatching MONDO:0008690 xeroderma pigmentosum, autosomal dominant, mild skos:exactMatch OMIM:194400 xeroderma pigmentosum, autosomal dominant, mild semapv:UnspecifiedMatching MONDO:0008690 xeroderma pigmentosum, autosomal dominant, mild skos:exactMatch UMLS:C1860231 semapv:UnspecifiedMatching MONDO:0008690 xeroderma pigmentosum, autosomal dominant, mild skos:exactMatch mesh:C565989 semapv:UnspecifiedMatching MONDO:0008691 obsolete zinc, elevated plasma skos:exactMatch OMIM:194470 zinc, elevated plasma semapv:UnspecifiedMatching MONDO:0008692 abetalipoproteinemia skos:exactMatch DOID:1386 abetalipoproteinemia semapv:UnspecifiedMatching MONDO:0008692 abetalipoproteinemia skos:exactMatch MEDGEN:1253 semapv:UnspecifiedMatching MONDO:0008692 abetalipoproteinemia skos:exactMatch NCIT:C84525 Abetalipoproteinemia semapv:UnspecifiedMatching MONDO:0008692 abetalipoproteinemia skos:exactMatch OMIM:200100 abetalipoproteinemia semapv:UnspecifiedMatching MONDO:0008692 abetalipoproteinemia skos:exactMatch Orphanet:14 Abetalipoproteinemia semapv:UnspecifiedMatching MONDO:0008692 abetalipoproteinemia skos:exactMatch SCTID:190787008 semapv:UnspecifiedMatching MONDO:0008692 abetalipoproteinemia skos:exactMatch UMLS:C0000744 semapv:UnspecifiedMatching MONDO:0008692 abetalipoproteinemia skos:exactMatch icd11.foundation:1117838449 Abetalipoproteinaemia semapv:UnspecifiedMatching MONDO:0008692 abetalipoproteinemia skos:exactMatch mesh:D000012 semapv:UnspecifiedMatching MONDO:0008693 ablepharon macrostomia syndrome skos:exactMatch DOID:0060550 ablepharon macrostomia syndrome semapv:UnspecifiedMatching MONDO:0008693 ablepharon macrostomia syndrome skos:exactMatch MEDGEN:395439 semapv:UnspecifiedMatching MONDO:0008693 ablepharon macrostomia syndrome skos:exactMatch OMIM:200110 ablepharon-macrostomia syndrome semapv:UnspecifiedMatching MONDO:0008693 ablepharon macrostomia syndrome skos:exactMatch Orphanet:920 Ablepharon macrostomia syndrome semapv:UnspecifiedMatching MONDO:0008693 ablepharon macrostomia syndrome skos:exactMatch SCTID:718575002 semapv:UnspecifiedMatching MONDO:0008693 ablepharon macrostomia syndrome skos:exactMatch UMLS:C1860224 semapv:UnspecifiedMatching MONDO:0008693 ablepharon macrostomia syndrome skos:exactMatch mesh:C535557 semapv:UnspecifiedMatching MONDO:0008694 pseudoprogeria syndrome skos:exactMatch MEDGEN:163218 semapv:UnspecifiedMatching MONDO:0008694 pseudoprogeria syndrome skos:exactMatch OMIM:200130 absent eyebrows and eyelashes with impaired intellectual development semapv:UnspecifiedMatching MONDO:0008694 pseudoprogeria syndrome skos:exactMatch Orphanet:2985 Pseudoprogeria syndrome semapv:UnspecifiedMatching MONDO:0008694 pseudoprogeria syndrome skos:exactMatch SCTID:733086003 semapv:UnspecifiedMatching MONDO:0008694 pseudoprogeria syndrome skos:exactMatch UMLS:C0796125 semapv:UnspecifiedMatching MONDO:0008694 pseudoprogeria syndrome skos:exactMatch mesh:C563111 semapv:UnspecifiedMatching MONDO:0008695 VPS13A-related neurodegenerative disease skos:exactMatch DOID:0050766 choreaacanthocytosis semapv:UnspecifiedMatching MONDO:0008695 VPS13A-related neurodegenerative disease skos:exactMatch MEDGEN:98277 semapv:UnspecifiedMatching MONDO:0008695 VPS13A-related neurodegenerative disease skos:exactMatch OMIM:200150 choreoacanthocytosis semapv:UnspecifiedMatching MONDO:0008695 VPS13A-related neurodegenerative disease skos:exactMatch Orphanet:2388 Choreoacanthocytosis semapv:UnspecifiedMatching MONDO:0008695 VPS13A-related neurodegenerative disease skos:exactMatch SCTID:66881004 semapv:UnspecifiedMatching MONDO:0008695 VPS13A-related neurodegenerative disease skos:exactMatch UMLS:C0393576 semapv:UnspecifiedMatching MONDO:0008696 acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome skos:exactMatch MEDGEN:348051 semapv:UnspecifiedMatching MONDO:0008696 acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome skos:exactMatch OMIM:200170 acanthosis nigricans with muscle cramps and acral enlargement semapv:UnspecifiedMatching MONDO:0008696 acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome skos:exactMatch Orphanet:90301 Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome semapv:UnspecifiedMatching MONDO:0008696 acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome skos:exactMatch UMLS:C1860215 semapv:UnspecifiedMatching MONDO:0008696 acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome skos:exactMatch mesh:C536000 semapv:UnspecifiedMatching MONDO:0008697 obsolete acetophenetidin sensitivity skos:exactMatch OMIM:200300 acetophenetidin sensitivity semapv:UnspecifiedMatching MONDO:0008698 achalasia skos:exactMatch DOID:9164 achalasia semapv:UnspecifiedMatching MONDO:0008698 achalasia skos:exactMatch ICD10CM:K22.0 Achalasia of cardia semapv:UnspecifiedMatching MONDO:0008698 achalasia skos:exactMatch MEDGEN:5023 semapv:UnspecifiedMatching MONDO:0008698 achalasia skos:exactMatch SCTID:235630008 semapv:UnspecifiedMatching MONDO:0008698 achalasia skos:exactMatch UMLS:C0014848 semapv:UnspecifiedMatching MONDO:0008698 achalasia skos:exactMatch icd11.foundation:636464846 Achalasia semapv:UnspecifiedMatching MONDO:0008699 achalasia microcephaly syndrome skos:exactMatch DOID:0050796 achalasia microcephaly syndrome semapv:UnspecifiedMatching MONDO:0008699 achalasia microcephaly syndrome skos:exactMatch MEDGEN:349753 semapv:UnspecifiedMatching MONDO:0008699 achalasia microcephaly syndrome skos:exactMatch OMIM:200450 achalasia-microcephaly syndrome semapv:UnspecifiedMatching MONDO:0008699 achalasia microcephaly syndrome skos:exactMatch Orphanet:929 Achalasia-microcephaly syndrome semapv:UnspecifiedMatching MONDO:0008699 achalasia microcephaly syndrome skos:exactMatch SCTID:718573009 semapv:UnspecifiedMatching MONDO:0008699 achalasia microcephaly syndrome skos:exactMatch UMLS:C1860212 semapv:UnspecifiedMatching MONDO:0008699 achalasia microcephaly syndrome skos:exactMatch mesh:C536010 semapv:UnspecifiedMatching MONDO:0008700 acheiropody skos:exactMatch DOID:0050603 acheiropody semapv:UnspecifiedMatching MONDO:0008700 acheiropody skos:exactMatch MEDGEN:120547 semapv:UnspecifiedMatching MONDO:0008700 acheiropody skos:exactMatch OMIM:200500 acheiropody semapv:UnspecifiedMatching MONDO:0008700 acheiropody skos:exactMatch Orphanet:931 Isolated acheiropodia semapv:UnspecifiedMatching MONDO:0008700 acheiropody skos:exactMatch SCTID:177504007 semapv:UnspecifiedMatching MONDO:0008700 acheiropody skos:exactMatch UMLS:C0265559 semapv:UnspecifiedMatching MONDO:0008700 acheiropody skos:exactMatch mesh:C536014 semapv:UnspecifiedMatching MONDO:0008701 achondrogenesis type IA skos:exactMatch DOID:0080054 achondrogenesis type IA semapv:UnspecifiedMatching MONDO:0008701 achondrogenesis type IA skos:exactMatch MEDGEN:78546 semapv:UnspecifiedMatching MONDO:0008701 achondrogenesis type IA skos:exactMatch OMIM:200600 achondrogenesis, type 1a semapv:UnspecifiedMatching MONDO:0008701 achondrogenesis type IA skos:exactMatch Orphanet:93299 Achondrogenesis type 1A semapv:UnspecifiedMatching MONDO:0008701 achondrogenesis type IA skos:exactMatch SCTID:42725006 semapv:UnspecifiedMatching MONDO:0008701 achondrogenesis type IA skos:exactMatch UMLS:C0265273 semapv:UnspecifiedMatching MONDO:0008701 achondrogenesis type IA skos:exactMatch mesh:C536015 semapv:UnspecifiedMatching MONDO:0008702 achondrogenesis type II skos:exactMatch DOID:0080056 achondrogenesis type II semapv:UnspecifiedMatching MONDO:0008702 achondrogenesis type II skos:exactMatch MEDGEN:66315 semapv:UnspecifiedMatching MONDO:0008702 achondrogenesis type II skos:exactMatch OMIM:200610 achondrogenesis, type 2 semapv:UnspecifiedMatching MONDO:0008702 achondrogenesis type II skos:exactMatch Orphanet:93296 Achondrogenesis type 2 semapv:UnspecifiedMatching MONDO:0008702 achondrogenesis type II skos:exactMatch UMLS:C0220685 semapv:UnspecifiedMatching MONDO:0008702 achondrogenesis type II skos:exactMatch mesh:C536017 semapv:UnspecifiedMatching MONDO:0008703 acromesomelic dysplasia 2A skos:exactMatch DOID:0080052 acromesomelic dysplasia, Grebe type semapv:UnspecifiedMatching MONDO:0008703 acromesomelic dysplasia 2A skos:exactMatch MEDGEN:75557 semapv:UnspecifiedMatching MONDO:0008703 acromesomelic dysplasia 2A skos:exactMatch NCIT:C3816 Type II Achondrogenesis semapv:UnspecifiedMatching MONDO:0008703 acromesomelic dysplasia 2A skos:exactMatch OMIM:200700 acromesomelic dysplasia 2a semapv:UnspecifiedMatching MONDO:0008703 acromesomelic dysplasia 2A skos:exactMatch Orphanet:2098 Acromesomelic dysplasia, Grebe type semapv:UnspecifiedMatching MONDO:0008703 acromesomelic dysplasia 2A skos:exactMatch UMLS:C0265260 semapv:UnspecifiedMatching MONDO:0008704 short-limb skeletal dysplasia with severe combined immunodeficiency skos:exactMatch MEDGEN:348040 semapv:UnspecifiedMatching MONDO:0008704 short-limb skeletal dysplasia with severe combined immunodeficiency skos:exactMatch OMIM:200900 short-limb skeletal dysplasia with severe combined immunodeficiency semapv:UnspecifiedMatching MONDO:0008704 short-limb skeletal dysplasia with severe combined immunodeficiency skos:exactMatch Orphanet:935 Short-limb skeletal dysplasia with severe combined immunodeficiency semapv:UnspecifiedMatching MONDO:0008704 short-limb skeletal dysplasia with severe combined immunodeficiency skos:exactMatch UMLS:C1860168 semapv:UnspecifiedMatching MONDO:0008704 short-limb skeletal dysplasia with severe combined immunodeficiency skos:exactMatch icd11.foundation:469016488 Short-limb skeletal dysplasia with severe combined immunodeficiency semapv:UnspecifiedMatching MONDO:0008704 short-limb skeletal dysplasia with severe combined immunodeficiency skos:exactMatch mesh:C565984 semapv:UnspecifiedMatching MONDO:0008705 lysosomal acid phosphatase deficiency skos:exactMatch MEDGEN:78674 semapv:UnspecifiedMatching MONDO:0008705 lysosomal acid phosphatase deficiency skos:exactMatch OMIM:200950 acid phosphatase deficiency semapv:UnspecifiedMatching MONDO:0008705 lysosomal acid phosphatase deficiency skos:exactMatch Orphanet:35121 Lysosomal acid phosphatase deficiency semapv:UnspecifiedMatching MONDO:0008705 lysosomal acid phosphatase deficiency skos:exactMatch SCTID:57863006 semapv:UnspecifiedMatching MONDO:0008705 lysosomal acid phosphatase deficiency skos:exactMatch UMLS:C0268410 semapv:UnspecifiedMatching MONDO:0008705 lysosomal acid phosphatase deficiency skos:exactMatch mesh:C562645 semapv:UnspecifiedMatching MONDO:0008706 Ackerman syndrome skos:exactMatch MEDGEN:395426 semapv:UnspecifiedMatching MONDO:0008706 Ackerman syndrome skos:exactMatch OMIM:200970 ackerman syndrome semapv:UnspecifiedMatching MONDO:0008706 Ackerman syndrome skos:exactMatch Orphanet:2561 Pyramidal molars-abnormal upper lip syndrome semapv:UnspecifiedMatching MONDO:0008706 Ackerman syndrome skos:exactMatch SCTID:722280000 semapv:UnspecifiedMatching MONDO:0008706 Ackerman syndrome skos:exactMatch UMLS:C1860167 semapv:UnspecifiedMatching MONDO:0008706 Ackerman syndrome skos:exactMatch icd11.foundation:1946127088 Ackerman syndrome semapv:UnspecifiedMatching MONDO:0008706 Ackerman syndrome skos:exactMatch mesh:C538170 semapv:UnspecifiedMatching MONDO:0008707 acro-renal-mandibular syndrome skos:exactMatch MEDGEN:395425 semapv:UnspecifiedMatching MONDO:0008707 acro-renal-mandibular syndrome skos:exactMatch OMIM:200980 acrorenal-mandibular syndrome semapv:UnspecifiedMatching MONDO:0008707 acro-renal-mandibular syndrome skos:exactMatch Orphanet:958 Acro-renal-mandibular syndrome semapv:UnspecifiedMatching MONDO:0008707 acro-renal-mandibular syndrome skos:exactMatch SCTID:720414005 semapv:UnspecifiedMatching MONDO:0008707 acro-renal-mandibular syndrome skos:exactMatch UMLS:C1860166 semapv:UnspecifiedMatching MONDO:0008707 acro-renal-mandibular syndrome skos:exactMatch icd11.foundation:879242648 Acro-renal-mandibular syndrome semapv:UnspecifiedMatching MONDO:0008707 acro-renal-mandibular syndrome skos:exactMatch mesh:C535665 semapv:UnspecifiedMatching MONDO:0008708 acrocallosal syndrome skos:exactMatch DOID:9250 acrocallosal syndrome semapv:UnspecifiedMatching MONDO:0008708 acrocallosal syndrome skos:exactMatch MEDGEN:162915 semapv:UnspecifiedMatching MONDO:0008708 acrocallosal syndrome skos:exactMatch NCIT:C84531 Acrocallosal Syndrome semapv:UnspecifiedMatching MONDO:0008708 acrocallosal syndrome skos:exactMatch OMIM:200990 acrocallosal syndrome semapv:UnspecifiedMatching MONDO:0008708 acrocallosal syndrome skos:exactMatch Orphanet:36 Acrocallosal syndrome semapv:UnspecifiedMatching MONDO:0008708 acrocallosal syndrome skos:exactMatch SCTID:715951007 semapv:UnspecifiedMatching MONDO:0008708 acrocallosal syndrome skos:exactMatch UMLS:C0796147 semapv:UnspecifiedMatching MONDO:0008708 acrocallosal syndrome skos:exactMatch icd11.foundation:1286493807 Acrocallosal syndrome semapv:UnspecifiedMatching MONDO:0008708 acrocallosal syndrome skos:exactMatch mesh:D055673 semapv:UnspecifiedMatching MONDO:0008709 acrocephalopolydactyly skos:exactMatch MEDGEN:501209 semapv:UnspecifiedMatching MONDO:0008709 acrocephalopolydactyly skos:exactMatch OMIM:200995 acrocephalopolydactylous dysplasia semapv:UnspecifiedMatching MONDO:0008709 acrocephalopolydactyly skos:exactMatch Orphanet:221054 Acrocephalopolydactyly semapv:UnspecifiedMatching MONDO:0008709 acrocephalopolydactyly skos:exactMatch SCTID:720417003 semapv:UnspecifiedMatching MONDO:0008709 acrocephalopolydactyly skos:exactMatch UMLS:C3495588 semapv:UnspecifiedMatching MONDO:0008709 acrocephalopolydactyly skos:exactMatch icd11.foundation:1177551296 Acrocephalopolydactyly semapv:UnspecifiedMatching MONDO:0008709 acrocephalopolydactyly skos:exactMatch mesh:C573722 semapv:UnspecifiedMatching MONDO:0008710 RAB23-related Carpenter syndrome skos:exactMatch DOID:0061098 Carpenter syndrome 1 semapv:UnspecifiedMatching MONDO:0008710 RAB23-related Carpenter syndrome skos:exactMatch MEDGEN:1644017 semapv:UnspecifiedMatching MONDO:0008710 RAB23-related Carpenter syndrome skos:exactMatch OMIM:201000 carpenter syndrome 1 semapv:UnspecifiedMatching MONDO:0008710 RAB23-related Carpenter syndrome skos:exactMatch SCTID:205813009 semapv:UnspecifiedMatching MONDO:0008710 RAB23-related Carpenter syndrome skos:exactMatch UMLS:C4551510 semapv:UnspecifiedMatching MONDO:0008711 Goodman syndrome skos:exactMatch MEDGEN:78551 semapv:UnspecifiedMatching MONDO:0008711 Goodman syndrome skos:exactMatch OMIM:201020 acrocephalopolysyndactyly type 4 semapv:UnspecifiedMatching MONDO:0008711 Goodman syndrome skos:exactMatch SCTID:720600004 semapv:UnspecifiedMatching MONDO:0008711 Goodman syndrome skos:exactMatch UMLS:C0265303 semapv:UnspecifiedMatching MONDO:0008711 Goodman syndrome skos:exactMatch mesh:C537287 semapv:UnspecifiedMatching MONDO:0008712 acrocraniofacial dysostosis skos:exactMatch MEDGEN:349738 semapv:UnspecifiedMatching MONDO:0008712 acrocraniofacial dysostosis skos:exactMatch OMIM:201050 acrocraniofacial dysostosis semapv:UnspecifiedMatching MONDO:0008712 acrocraniofacial dysostosis skos:exactMatch Orphanet:949 Acrocraniofacial dysostosis semapv:UnspecifiedMatching MONDO:0008712 acrocraniofacial dysostosis skos:exactMatch SCTID:720418008 semapv:UnspecifiedMatching MONDO:0008712 acrocraniofacial dysostosis skos:exactMatch UMLS:C1860145 semapv:UnspecifiedMatching MONDO:0008712 acrocraniofacial dysostosis skos:exactMatch mesh:C536892 semapv:UnspecifiedMatching MONDO:0008713 acrodermatitis enteropathica skos:exactMatch DOID:0050605 acrodermatitis enteropathica semapv:UnspecifiedMatching MONDO:0008713 acrodermatitis enteropathica skos:exactMatch MEDGEN:66355 semapv:UnspecifiedMatching MONDO:0008713 acrodermatitis enteropathica skos:exactMatch NCIT:C128802 Acrodermatitis Enteropathica semapv:UnspecifiedMatching MONDO:0008713 acrodermatitis enteropathica skos:exactMatch OMIM:201100 acrodermatitis enteropathica, zinc-deficiency type semapv:UnspecifiedMatching MONDO:0008713 acrodermatitis enteropathica skos:exactMatch Orphanet:37 Acrodermatitis enteropathica semapv:UnspecifiedMatching MONDO:0008713 acrodermatitis enteropathica skos:exactMatch SCTID:37702000 semapv:UnspecifiedMatching MONDO:0008713 acrodermatitis enteropathica skos:exactMatch UMLS:C0221036 semapv:UnspecifiedMatching MONDO:0008713 acrodermatitis enteropathica skos:exactMatch icd11.foundation:1813939482 Acrodermatitis enteropathica semapv:UnspecifiedMatching MONDO:0008713 acrodermatitis enteropathica skos:exactMatch mesh:C538178 semapv:UnspecifiedMatching MONDO:0008714 acrofacial dysostosis Rodriguez type skos:exactMatch DOID:0060383 acrofacial dysostosis Rodriguez type semapv:UnspecifiedMatching MONDO:0008714 acrofacial dysostosis Rodriguez type skos:exactMatch MEDGEN:349730 semapv:UnspecifiedMatching MONDO:0008714 acrofacial dysostosis Rodriguez type skos:exactMatch OMIM:201170 acrofacial dysostosis syndrome of rodriguez semapv:UnspecifiedMatching MONDO:0008714 acrofacial dysostosis Rodriguez type skos:exactMatch Orphanet:1788 Acrofacial dysostosis, Rodríguez type semapv:UnspecifiedMatching MONDO:0008714 acrofacial dysostosis Rodriguez type skos:exactMatch SCTID:720430002 semapv:UnspecifiedMatching MONDO:0008714 acrofacial dysostosis Rodriguez type skos:exactMatch UMLS:C1860119 semapv:UnspecifiedMatching MONDO:0008714 acrofacial dysostosis Rodriguez type skos:exactMatch mesh:C538183 semapv:UnspecifiedMatching MONDO:0008715 acrofrontofacionasal dysostosis skos:exactMatch DOID:0060226 acrofrontofacionasal dysostosis semapv:UnspecifiedMatching MONDO:0008715 acrofrontofacionasal dysostosis skos:exactMatch MEDGEN:349729 semapv:UnspecifiedMatching MONDO:0008715 acrofrontofacionasal dysostosis skos:exactMatch Orphanet:1784 Acrofrontofacionasal dysostosis semapv:UnspecifiedMatching MONDO:0008715 acrofrontofacionasal dysostosis skos:exactMatch SCTID:720408003 semapv:UnspecifiedMatching MONDO:0008715 acrofrontofacionasal dysostosis skos:exactMatch UMLS:C1860118 semapv:UnspecifiedMatching MONDO:0008715 acrofrontofacionasal dysostosis skos:exactMatch icd11.foundation:700995487 Acrofrontofacionasal dysostosis semapv:UnspecifiedMatching MONDO:0008716 acrogeria skos:exactMatch MEDGEN:96063 semapv:UnspecifiedMatching MONDO:0008716 acrogeria skos:exactMatch OMIM:201200 acrogeria, gottron type semapv:UnspecifiedMatching MONDO:0008716 acrogeria skos:exactMatch Orphanet:2500 Acrogeria semapv:UnspecifiedMatching MONDO:0008716 acrogeria skos:exactMatch SCTID:238872007 semapv:UnspecifiedMatching MONDO:0008716 acrogeria skos:exactMatch UMLS:C0406584 semapv:UnspecifiedMatching MONDO:0008716 acrogeria skos:exactMatch icd11.foundation:1607996977 Acrogeria semapv:UnspecifiedMatching MONDO:0008716 acrogeria skos:exactMatch mesh:C538187 semapv:UnspecifiedMatching MONDO:0008717 acromesomelic dysplasia 2C, Hunter-Thompson type skos:exactMatch DOID:0080051 acromesomelic dysplasia, Hunter-Thompson type semapv:UnspecifiedMatching MONDO:0008717 acromesomelic dysplasia 2C, Hunter-Thompson type skos:exactMatch MEDGEN:419681 semapv:UnspecifiedMatching MONDO:0008717 acromesomelic dysplasia 2C, Hunter-Thompson type skos:exactMatch OMIM:201250 acromesomelic dysplasia 2c semapv:UnspecifiedMatching MONDO:0008717 acromesomelic dysplasia 2C, Hunter-Thompson type skos:exactMatch Orphanet:968 Acromesomelic dysplasia, Hunter-Thompson type semapv:UnspecifiedMatching MONDO:0008717 acromesomelic dysplasia 2C, Hunter-Thompson type skos:exactMatch UMLS:C2930970 semapv:UnspecifiedMatching MONDO:0008718 Morvan syndrome skos:exactMatch EFO:1001897 semapv:UnspecifiedMatching MONDO:0008718 Morvan syndrome skos:exactMatch MEDGEN:1632829 semapv:UnspecifiedMatching MONDO:0008718 Morvan syndrome skos:exactMatch Orphanet:83467 Morvan syndrome semapv:UnspecifiedMatching MONDO:0008718 Morvan syndrome skos:exactMatch SCTID:763803004 semapv:UnspecifiedMatching MONDO:0008718 Morvan syndrome skos:exactMatch UMLS:C3854373 semapv:UnspecifiedMatching MONDO:0008719 acrorenal syndrome, autosomal recessive skos:exactMatch MEDGEN:163241 semapv:UnspecifiedMatching MONDO:0008719 acrorenal syndrome, autosomal recessive skos:exactMatch OMIM:201310 acrorenal syndrome, autosomal recessive semapv:UnspecifiedMatching MONDO:0008719 acrorenal syndrome, autosomal recessive skos:exactMatch UMLS:C0796290 semapv:UnspecifiedMatching MONDO:0008719 acrorenal syndrome, autosomal recessive skos:exactMatch mesh:C535666 semapv:UnspecifiedMatching MONDO:0008720 congenital isolated adrenocorticotropic hormone deficiency skos:exactMatch DOID:0080150 adrenocorticotropic hormone deficiency semapv:UnspecifiedMatching MONDO:0008720 congenital isolated adrenocorticotropic hormone deficiency skos:exactMatch EFO:1001979 semapv:UnspecifiedMatching MONDO:0008720 congenital isolated adrenocorticotropic hormone deficiency skos:exactMatch MEDGEN:137968 semapv:UnspecifiedMatching MONDO:0008720 congenital isolated adrenocorticotropic hormone deficiency skos:exactMatch OMIM:201400 acth deficiency, isolated semapv:UnspecifiedMatching MONDO:0008720 congenital isolated adrenocorticotropic hormone deficiency skos:exactMatch Orphanet:199296 Congenital isolated ACTH deficiency semapv:UnspecifiedMatching MONDO:0008720 congenital isolated adrenocorticotropic hormone deficiency skos:exactMatch SCTID:237692001 semapv:UnspecifiedMatching MONDO:0008720 congenital isolated adrenocorticotropic hormone deficiency skos:exactMatch UMLS:C0342388 semapv:UnspecifiedMatching MONDO:0008720 congenital isolated adrenocorticotropic hormone deficiency skos:exactMatch mesh:C535668 semapv:UnspecifiedMatching MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency skos:exactMatch DOID:0080153 medium chain acyl-CoA dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency skos:exactMatch ICD10CM:E71.311 Medium chain acyl CoA dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency skos:exactMatch MEDGEN:65086 semapv:UnspecifiedMatching MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency skos:exactMatch NCIT:C84538 Medium-Chain Acyl-CoA Dehydrogenase Deficiency semapv:UnspecifiedMatching MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency skos:exactMatch OMIM:201450 acyl-coa dehydrogenase, medium-chain, deficiency of semapv:UnspecifiedMatching MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency skos:exactMatch Orphanet:42 Medium chain acyl-CoA dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency skos:exactMatch SCTID:128596003 semapv:UnspecifiedMatching MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency skos:exactMatch UMLS:C0220710 semapv:UnspecifiedMatching MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency skos:exactMatch icd11.foundation:627734797 Medium chain acyl-CoA dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency skos:exactMatch mesh:C536038 semapv:UnspecifiedMatching MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency skos:exactMatch DOID:0080154 short chain acyl-CoA dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency skos:exactMatch ICD10CM:E71.312 Short chain acyl CoA dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency skos:exactMatch MEDGEN:90998 semapv:UnspecifiedMatching MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency skos:exactMatch NCIT:C84539 Acyl-CoA Dehydrogenase, Short-Chain Deficiency semapv:UnspecifiedMatching MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency skos:exactMatch OMIM:201470 acyl-coa dehydrogenase, short-chain, deficiency of semapv:UnspecifiedMatching MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency skos:exactMatch Orphanet:26792 Short chain acyl-CoA dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency skos:exactMatch UMLS:C0342783 semapv:UnspecifiedMatching MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency skos:exactMatch icd11.foundation:180018315 Short chain acyl-CoA dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency skos:exactMatch mesh:C537596 semapv:UnspecifiedMatching MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency skos:exactMatch DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency skos:exactMatch ICD10CM:E71.310 Long chain/very long chain acyl CoA dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency skos:exactMatch MEDGEN:854382 semapv:UnspecifiedMatching MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency skos:exactMatch NCIT:C98647 Very Long-Chain Acyl-CoA Dehydrogenase Deficiency semapv:UnspecifiedMatching MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency skos:exactMatch OMIM:201475 acyl-coa dehydrogenase, very long-chain, deficiency of semapv:UnspecifiedMatching MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency skos:exactMatch Orphanet:26793 Very long chain acyl-CoA dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency skos:exactMatch SCTID:237997005 semapv:UnspecifiedMatching MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency skos:exactMatch UMLS:C3887523 semapv:UnspecifiedMatching MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency skos:exactMatch icd11.foundation:907810567 Very long chain acyl-CoA dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0008724 adducted thumbs-arthrogryposis syndrome, Christian type skos:exactMatch MEDGEN:1875234 semapv:UnspecifiedMatching MONDO:0008724 adducted thumbs-arthrogryposis syndrome, Christian type skos:exactMatch OMIM:201550 adducted thumbs syndrome semapv:UnspecifiedMatching MONDO:0008724 adducted thumbs-arthrogryposis syndrome, Christian type skos:exactMatch Orphanet:2952 Adducted thumbs-arthrogryposis syndrome, Christian type semapv:UnspecifiedMatching MONDO:0008724 adducted thumbs-arthrogryposis syndrome, Christian type skos:exactMatch UMLS:C5975706 semapv:UnspecifiedMatching MONDO:0008725 congenital lipoid adrenal hyperplasia due to STAR deficency skos:exactMatch MEDGEN:83341 semapv:UnspecifiedMatching MONDO:0008725 congenital lipoid adrenal hyperplasia due to STAR deficency skos:exactMatch OMIM:201710 lipoid congenital adrenal hyperplasia semapv:UnspecifiedMatching MONDO:0008725 congenital lipoid adrenal hyperplasia due to STAR deficency skos:exactMatch Orphanet:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency semapv:UnspecifiedMatching MONDO:0008725 congenital lipoid adrenal hyperplasia due to STAR deficency skos:exactMatch SCTID:44231009 semapv:UnspecifiedMatching MONDO:0008725 congenital lipoid adrenal hyperplasia due to STAR deficency skos:exactMatch UMLS:C0342474 semapv:UnspecifiedMatching MONDO:0008726 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis skos:exactMatch MEDGEN:461449 semapv:UnspecifiedMatching MONDO:0008726 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis skos:exactMatch NCIT:C178415 Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis semapv:UnspecifiedMatching MONDO:0008726 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis skos:exactMatch OMIM:201750 antley-bixler syndrome with genital anomalies and disordered steroidogenesis semapv:UnspecifiedMatching MONDO:0008726 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis skos:exactMatch Orphanet:63269 Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis semapv:UnspecifiedMatching MONDO:0008726 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis skos:exactMatch UMLS:C3150099 semapv:UnspecifiedMatching MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency skos:exactMatch MEDGEN:452446 semapv:UnspecifiedMatching MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency skos:exactMatch NCIT:C131088 3-Beta-Hydroxysteroid Dehydrogenase Deficiency semapv:UnspecifiedMatching MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency skos:exactMatch OMIM:201810 adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency semapv:UnspecifiedMatching MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency skos:exactMatch Orphanet:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency skos:exactMatch SCTID:54470008 semapv:UnspecifiedMatching MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency skos:exactMatch UMLS:C0342471 semapv:UnspecifiedMatching MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency skos:exactMatch icd11.foundation:929626064 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency skos:exactMatch mesh:C538236 semapv:UnspecifiedMatching MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:exactMatch MEDGEN:903755 semapv:UnspecifiedMatching MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:exactMatch NCIT:C131087 21-Hydroxylase Deficiency semapv:UnspecifiedMatching MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:exactMatch OMIM:201910 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency semapv:UnspecifiedMatching MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:exactMatch Orphanet:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency semapv:UnspecifiedMatching MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:exactMatch SCTID:124221007 semapv:UnspecifiedMatching MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:exactMatch SCTID:717261006 semapv:UnspecifiedMatching MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:exactMatch UMLS:C4273964 semapv:UnspecifiedMatching MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:exactMatch mesh:C535979 semapv:UnspecifiedMatching MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:exactMatch MEDGEN:82783 semapv:UnspecifiedMatching MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:exactMatch NCIT:C131085 11-Beta-Hydroxylase Deficiency semapv:UnspecifiedMatching MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:exactMatch OMIM:202010 adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency semapv:UnspecifiedMatching MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:exactMatch Orphanet:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency semapv:UnspecifiedMatching MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:exactMatch SCTID:124214007 semapv:UnspecifiedMatching MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:exactMatch UMLS:C0268292 semapv:UnspecifiedMatching MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:exactMatch icd11.foundation:791376680 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency semapv:UnspecifiedMatching MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:exactMatch mesh:C535978 semapv:UnspecifiedMatching MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency skos:exactMatch MEDGEN:82782 semapv:UnspecifiedMatching MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency skos:exactMatch OMIM:202110 adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency semapv:UnspecifiedMatching MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency skos:exactMatch Orphanet:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency semapv:UnspecifiedMatching MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency skos:exactMatch SCTID:124220008 semapv:UnspecifiedMatching MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency skos:exactMatch UMLS:C0268285 semapv:UnspecifiedMatching MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency skos:exactMatch icd11.foundation:587903316 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency semapv:UnspecifiedMatching MONDO:0008731 familial adrenal hypoplasia with absent pituitary luteinizing hormone skos:exactMatch MEDGEN:348510 semapv:UnspecifiedMatching MONDO:0008731 familial adrenal hypoplasia with absent pituitary luteinizing hormone skos:exactMatch OMIM:202150 adrenal hypoplasia, congenital, with absent pituitary luteinizing hormone semapv:UnspecifiedMatching MONDO:0008731 familial adrenal hypoplasia with absent pituitary luteinizing hormone skos:exactMatch Orphanet:95700 Familial adrenal hypoplasia with absent pituitary luteinizing hormone semapv:UnspecifiedMatching MONDO:0008731 familial adrenal hypoplasia with absent pituitary luteinizing hormone skos:exactMatch UMLS:C1859978 semapv:UnspecifiedMatching MONDO:0008731 familial adrenal hypoplasia with absent pituitary luteinizing hormone skos:exactMatch mesh:C565976 semapv:UnspecifiedMatching MONDO:0008732 adrenal hypoplasia, cytomegalic type skos:exactMatch MEDGEN:348509 semapv:UnspecifiedMatching MONDO:0008732 adrenal hypoplasia, cytomegalic type skos:exactMatch OMIM:202155 adrenal hypoplasia, cytomegalic type semapv:UnspecifiedMatching MONDO:0008732 adrenal hypoplasia, cytomegalic type skos:exactMatch UMLS:C1859977 semapv:UnspecifiedMatching MONDO:0008733 familial glucocorticoid deficiency skos:exactMatch DOID:0080620 familial glucocorticoid deficiency semapv:UnspecifiedMatching MONDO:0008733 familial glucocorticoid deficiency skos:exactMatch MEDGEN:885955 semapv:UnspecifiedMatching MONDO:0008733 familial glucocorticoid deficiency skos:exactMatch NCIT:C120446 Isolated Glucocorticoid Deficiency semapv:UnspecifiedMatching MONDO:0008733 familial glucocorticoid deficiency skos:exactMatch OMIMPS:202200 Glucocorticoid deficiency semapv:UnspecifiedMatching MONDO:0008733 familial glucocorticoid deficiency skos:exactMatch Orphanet:361 Familial glucocorticoid deficiency semapv:UnspecifiedMatching MONDO:0008733 familial glucocorticoid deficiency skos:exactMatch SCTID:765326001 semapv:UnspecifiedMatching MONDO:0008733 familial glucocorticoid deficiency skos:exactMatch UMLS:C4054695 semapv:UnspecifiedMatching MONDO:0008733 familial glucocorticoid deficiency skos:exactMatch icd11.foundation:861297039 Familial glucocorticoid deficiency semapv:UnspecifiedMatching MONDO:0008733 familial glucocorticoid deficiency skos:exactMatch mesh:C565974 semapv:UnspecifiedMatching MONDO:0008734 adrenocortical carcinoma, hereditary skos:exactMatch MEDGEN:348508 semapv:UnspecifiedMatching MONDO:0008734 adrenocortical carcinoma, hereditary skos:exactMatch OMIM:202300 adrenocortical carcinoma, hereditary semapv:UnspecifiedMatching MONDO:0008734 adrenocortical carcinoma, hereditary skos:exactMatch UMLS:C1859972 semapv:UnspecifiedMatching MONDO:0008734 adrenocortical carcinoma, hereditary skos:exactMatch mesh:C565972 semapv:UnspecifiedMatching MONDO:0008735 adrenocortical unresponsiveness to ACTH with postreceptor defect skos:exactMatch MEDGEN:348507 semapv:UnspecifiedMatching MONDO:0008735 adrenocortical unresponsiveness to ACTH with postreceptor defect skos:exactMatch OMIM:202355 adrenocortical unresponsiveness to acth with postreceptor defect semapv:UnspecifiedMatching MONDO:0008735 adrenocortical unresponsiveness to ACTH with postreceptor defect skos:exactMatch UMLS:C1859971 semapv:UnspecifiedMatching MONDO:0008735 adrenocortical unresponsiveness to ACTH with postreceptor defect skos:exactMatch mesh:C565971 semapv:UnspecifiedMatching MONDO:0008736 peroxisome biogenesis disorder 2B skos:exactMatch DOID:0080622 peroxisome biogenesis disorder 2B semapv:UnspecifiedMatching MONDO:0008736 peroxisome biogenesis disorder 2B skos:exactMatch MEDGEN:763148 semapv:UnspecifiedMatching MONDO:0008736 peroxisome biogenesis disorder 2B skos:exactMatch NCIT:C155751 Peroxisome Biogenesis Disorder 2B semapv:UnspecifiedMatching MONDO:0008736 peroxisome biogenesis disorder 2B skos:exactMatch OMIM:202370 peroxisome biogenesis disorder 2b semapv:UnspecifiedMatching MONDO:0008736 peroxisome biogenesis disorder 2B skos:exactMatch UMLS:C3550234 semapv:UnspecifiedMatching MONDO:0008737 congenital afibrinogenemia skos:exactMatch DOID:2236 congenital afibrinogenemia semapv:UnspecifiedMatching MONDO:0008737 congenital afibrinogenemia skos:exactMatch MEDGEN:749036 semapv:UnspecifiedMatching MONDO:0008737 congenital afibrinogenemia skos:exactMatch NCIT:C98130 Afibrinogenemia semapv:UnspecifiedMatching MONDO:0008737 congenital afibrinogenemia skos:exactMatch OMIM:202400 afibrinogenemia, congenital semapv:UnspecifiedMatching MONDO:0008737 congenital afibrinogenemia skos:exactMatch Orphanet:98880 Familial afibrinogenemia semapv:UnspecifiedMatching MONDO:0008737 congenital afibrinogenemia skos:exactMatch SCTID:154818001 semapv:UnspecifiedMatching MONDO:0008737 congenital afibrinogenemia skos:exactMatch UMLS:C2584774 semapv:UnspecifiedMatching MONDO:0008737 congenital afibrinogenemia skos:exactMatch mesh:D000347 semapv:UnspecifiedMatching MONDO:0008738 aganglionosis, total intestinal skos:exactMatch MEDGEN:83378 semapv:UnspecifiedMatching MONDO:0008738 aganglionosis, total intestinal skos:exactMatch NCIT:C101074 Total Intestinal Aganglionosis semapv:UnspecifiedMatching MONDO:0008738 aganglionosis, total intestinal skos:exactMatch OMIM:202550 aganglionosis, total intestinal semapv:UnspecifiedMatching MONDO:0008738 aganglionosis, total intestinal skos:exactMatch UMLS:C0345240 semapv:UnspecifiedMatching MONDO:0008738 aganglionosis, total intestinal skos:exactMatch mesh:C538058 semapv:UnspecifiedMatching MONDO:0008739 agenesis of cerebral white matter skos:exactMatch MEDGEN:347986 semapv:UnspecifiedMatching MONDO:0008739 agenesis of cerebral white matter skos:exactMatch OMIM:202600 agenesis of cerebral white matter semapv:UnspecifiedMatching MONDO:0008739 agenesis of cerebral white matter skos:exactMatch UMLS:C1859969 semapv:UnspecifiedMatching MONDO:0008740 agnathia-otocephaly complex skos:exactMatch DOID:0060341 agnathia-otocephaly complex semapv:UnspecifiedMatching MONDO:0008740 agnathia-otocephaly complex skos:exactMatch MEDGEN:78541 semapv:UnspecifiedMatching MONDO:0008740 agnathia-otocephaly complex skos:exactMatch NCIT:C124568 Otocephaly semapv:UnspecifiedMatching MONDO:0008740 agnathia-otocephaly complex skos:exactMatch OMIM:202650 agnathia-otocephaly complex semapv:UnspecifiedMatching MONDO:0008740 agnathia-otocephaly complex skos:exactMatch Orphanet:990 Agnathia-holoprosencephaly-situs inversus syndrome semapv:UnspecifiedMatching MONDO:0008740 agnathia-otocephaly complex skos:exactMatch SCTID:48180002 semapv:UnspecifiedMatching MONDO:0008740 agnathia-otocephaly complex skos:exactMatch UMLS:C0265242 semapv:UnspecifiedMatching MONDO:0008741 PAGOD syndrome skos:exactMatch MEDGEN:347985 semapv:UnspecifiedMatching MONDO:0008741 PAGOD syndrome skos:exactMatch OMIM:202660 pagod syndrome semapv:UnspecifiedMatching MONDO:0008741 PAGOD syndrome skos:exactMatch Orphanet:991 PAGOD syndrome semapv:UnspecifiedMatching MONDO:0008741 PAGOD syndrome skos:exactMatch SCTID:722132007 semapv:UnspecifiedMatching MONDO:0008741 PAGOD syndrome skos:exactMatch UMLS:C1859967 semapv:UnspecifiedMatching MONDO:0008741 PAGOD syndrome skos:exactMatch mesh:C537018 semapv:UnspecifiedMatching MONDO:0008742 autosomal dominant severe congenital neutropenia skos:exactMatch DOID:0112130 autosomal dominant severe congenital neutropenia semapv:UnspecifiedMatching MONDO:0008742 autosomal dominant severe congenital neutropenia skos:exactMatch MEDGEN:1665322 semapv:UnspecifiedMatching MONDO:0008742 autosomal dominant severe congenital neutropenia skos:exactMatch NCIT:C166155 Autosomal Dominant Severe Congenital Neutropenia semapv:UnspecifiedMatching MONDO:0008742 autosomal dominant severe congenital neutropenia skos:exactMatch Orphanet:486 Autosomal dominant severe congenital neutropenia semapv:UnspecifiedMatching MONDO:0008742 autosomal dominant severe congenital neutropenia skos:exactMatch UMLS:C4749612 semapv:UnspecifiedMatching MONDO:0008743 Stimmler syndrome skos:exactMatch MEDGEN:348505 semapv:UnspecifiedMatching MONDO:0008743 Stimmler syndrome skos:exactMatch OMIM:202900 alaninuria with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitus semapv:UnspecifiedMatching MONDO:0008743 Stimmler syndrome skos:exactMatch Orphanet:3199 Stimmler syndrome semapv:UnspecifiedMatching MONDO:0008743 Stimmler syndrome skos:exactMatch SCTID:733072002 semapv:UnspecifiedMatching MONDO:0008743 Stimmler syndrome skos:exactMatch UMLS:C1859965 semapv:UnspecifiedMatching MONDO:0008743 Stimmler syndrome skos:exactMatch mesh:C565968 semapv:UnspecifiedMatching MONDO:0008744 alar cartilages hypoplasia-coloboma-telecanthus syndrome skos:exactMatch MEDGEN:348504 semapv:UnspecifiedMatching MONDO:0008744 alar cartilages hypoplasia-coloboma-telecanthus syndrome skos:exactMatch OMIM:203000 frontonasal dysplasia with alar clefts semapv:UnspecifiedMatching MONDO:0008744 alar cartilages hypoplasia-coloboma-telecanthus syndrome skos:exactMatch Orphanet:2007 Alar cartilages hypoplasia-coloboma-telecanthus syndrome semapv:UnspecifiedMatching MONDO:0008744 alar cartilages hypoplasia-coloboma-telecanthus syndrome skos:exactMatch UMLS:C1859964 semapv:UnspecifiedMatching MONDO:0008744 alar cartilages hypoplasia-coloboma-telecanthus syndrome skos:exactMatch mesh:C535967 semapv:UnspecifiedMatching MONDO:0008745 oculocutaneous albinism type 1A skos:exactMatch DOID:0070094 oculocutaneous albinism type IA semapv:UnspecifiedMatching MONDO:0008745 oculocutaneous albinism type 1A skos:exactMatch MEDGEN:1643910 semapv:UnspecifiedMatching MONDO:0008745 oculocutaneous albinism type 1A skos:exactMatch NCIT:C168731 Oculocutaneous Albinism Type 1A semapv:UnspecifiedMatching MONDO:0008745 oculocutaneous albinism type 1A skos:exactMatch OMIM:203100 albinism, oculocutaneous, type 1a semapv:UnspecifiedMatching MONDO:0008745 oculocutaneous albinism type 1A skos:exactMatch Orphanet:79431 Oculocutaneous albinism type 1A semapv:UnspecifiedMatching MONDO:0008745 oculocutaneous albinism type 1A skos:exactMatch SCTID:6483008 semapv:UnspecifiedMatching MONDO:0008745 oculocutaneous albinism type 1A skos:exactMatch UMLS:C4551504 semapv:UnspecifiedMatching MONDO:0008745 oculocutaneous albinism type 1A skos:exactMatch icd11.foundation:1168847652 Oculocutaneous albinism type 1A semapv:UnspecifiedMatching MONDO:0008746 oculocutaneous albinism type 2 skos:exactMatch DOID:0070096 oculocutaneous albinism type II semapv:UnspecifiedMatching MONDO:0008746 oculocutaneous albinism type 2 skos:exactMatch MEDGEN:82810 semapv:UnspecifiedMatching MONDO:0008746 oculocutaneous albinism type 2 skos:exactMatch OMIM:203200 albinism, oculocutaneous, type 2 semapv:UnspecifiedMatching MONDO:0008746 oculocutaneous albinism type 2 skos:exactMatch Orphanet:79432 Oculocutaneous albinism type 2 semapv:UnspecifiedMatching MONDO:0008746 oculocutaneous albinism type 2 skos:exactMatch UMLS:C0268495 semapv:UnspecifiedMatching MONDO:0008746 oculocutaneous albinism type 2 skos:exactMatch icd11.foundation:2019316252 Oculocutaneous albinism type 2 semapv:UnspecifiedMatching MONDO:0008746 oculocutaneous albinism type 2 skos:exactMatch mesh:C537730 semapv:UnspecifiedMatching MONDO:0008747 oculocutaneous albinism type 3 skos:exactMatch DOID:0070097 oculocutaneous albinism type III semapv:UnspecifiedMatching MONDO:0008747 oculocutaneous albinism type 3 skos:exactMatch MEDGEN:87450 semapv:UnspecifiedMatching MONDO:0008747 oculocutaneous albinism type 3 skos:exactMatch OMIM:203290 albinism, oculocutaneous, type 3 semapv:UnspecifiedMatching MONDO:0008747 oculocutaneous albinism type 3 skos:exactMatch Orphanet:79433 Oculocutaneous albinism type 3 semapv:UnspecifiedMatching MONDO:0008747 oculocutaneous albinism type 3 skos:exactMatch SCTID:63450009 semapv:UnspecifiedMatching MONDO:0008747 oculocutaneous albinism type 3 skos:exactMatch UMLS:C0342683 semapv:UnspecifiedMatching MONDO:0008747 oculocutaneous albinism type 3 skos:exactMatch icd11.foundation:1565320806 Oculocutaneous albinism type 3 semapv:UnspecifiedMatching MONDO:0008747 oculocutaneous albinism type 3 skos:exactMatch mesh:C537731 semapv:UnspecifiedMatching MONDO:0008748 Hermansky-Pudlak syndrome 1 skos:exactMatch DOID:0060539 Hermansky-Pudlak syndrome 1 semapv:UnspecifiedMatching MONDO:0008748 Hermansky-Pudlak syndrome 1 skos:exactMatch MEDGEN:419514 semapv:UnspecifiedMatching MONDO:0008748 Hermansky-Pudlak syndrome 1 skos:exactMatch NCIT:C150367 Hermansky-Pudlak Syndrome 1 semapv:UnspecifiedMatching MONDO:0008748 Hermansky-Pudlak syndrome 1 skos:exactMatch OMIM:203300 hermansky-pudlak syndrome 1 semapv:UnspecifiedMatching MONDO:0008748 Hermansky-Pudlak syndrome 1 skos:exactMatch UMLS:C2931875 semapv:UnspecifiedMatching MONDO:0008748 Hermansky-Pudlak syndrome 1 skos:exactMatch mesh:C538539 semapv:UnspecifiedMatching MONDO:0008749 pseudohypoparathyroidism type 2 skos:exactMatch MEDGEN:444371 semapv:UnspecifiedMatching MONDO:0008749 pseudohypoparathyroidism type 2 skos:exactMatch OMIM:203330 pseudohypoparathyroidism, type 2 semapv:UnspecifiedMatching MONDO:0008749 pseudohypoparathyroidism type 2 skos:exactMatch Orphanet:94090 Pseudohypoparathyroidism type 2 semapv:UnspecifiedMatching MONDO:0008749 pseudohypoparathyroidism type 2 skos:exactMatch SCTID:42183005 semapv:UnspecifiedMatching MONDO:0008749 pseudohypoparathyroidism type 2 skos:exactMatch UMLS:C2932717 semapv:UnspecifiedMatching MONDO:0008749 pseudohypoparathyroidism type 2 skos:exactMatch icd11.foundation:1650158822 Pseudohypoparathyroidism type 2 semapv:UnspecifiedMatching MONDO:0008749 pseudohypoparathyroidism type 2 skos:exactMatch mesh:C548077 semapv:UnspecifiedMatching MONDO:0008750 microcephaly-albinism-digital anomalies syndrome skos:exactMatch MEDGEN:395372 semapv:UnspecifiedMatching MONDO:0008750 microcephaly-albinism-digital anomalies syndrome skos:exactMatch OMIM:203340 albinism-microcephaly-digital anomalies syndrome semapv:UnspecifiedMatching MONDO:0008750 microcephaly-albinism-digital anomalies syndrome skos:exactMatch Orphanet:2513 Microcephaly-albinism-digital anomalies syndrome semapv:UnspecifiedMatching MONDO:0008750 microcephaly-albinism-digital anomalies syndrome skos:exactMatch SCTID:719377004 semapv:UnspecifiedMatching MONDO:0008750 microcephaly-albinism-digital anomalies syndrome skos:exactMatch UMLS:C1859910 semapv:UnspecifiedMatching MONDO:0008750 microcephaly-albinism-digital anomalies syndrome skos:exactMatch mesh:C537322 semapv:UnspecifiedMatching MONDO:0008751 corticosterone methyloxidase type 1 deficiency skos:exactMatch DOID:0080626 corticosterone methyloxidase deficiency 1 semapv:UnspecifiedMatching MONDO:0008751 corticosterone methyloxidase type 1 deficiency skos:exactMatch MEDGEN:82784 semapv:UnspecifiedMatching MONDO:0008751 corticosterone methyloxidase type 1 deficiency skos:exactMatch OMIM:203400 corticosterone methyloxidase type 1 deficiency semapv:UnspecifiedMatching MONDO:0008751 corticosterone methyloxidase type 1 deficiency skos:exactMatch SCTID:47757001 semapv:UnspecifiedMatching MONDO:0008751 corticosterone methyloxidase type 1 deficiency skos:exactMatch UMLS:C0268293 semapv:UnspecifiedMatching MONDO:0008752 Alexander disease skos:exactMatch DOID:4252 Alexander disease semapv:UnspecifiedMatching MONDO:0008752 Alexander disease skos:exactMatch MEDGEN:78724 semapv:UnspecifiedMatching MONDO:0008752 Alexander disease skos:exactMatch NCIT:C84545 Alexander Disease semapv:UnspecifiedMatching MONDO:0008752 Alexander disease skos:exactMatch OMIM:203450 alexander disease semapv:UnspecifiedMatching MONDO:0008752 Alexander disease skos:exactMatch Orphanet:58 Alexander disease semapv:UnspecifiedMatching MONDO:0008752 Alexander disease skos:exactMatch SCTID:81854007 semapv:UnspecifiedMatching MONDO:0008752 Alexander disease skos:exactMatch UMLS:C0270726 semapv:UnspecifiedMatching MONDO:0008752 Alexander disease skos:exactMatch icd11.foundation:2023359698 Alexander disease semapv:UnspecifiedMatching MONDO:0008752 Alexander disease skos:exactMatch mesh:D038261 semapv:UnspecifiedMatching MONDO:0008753 alkaptonuria skos:exactMatch DOID:9270 alkaptonuria semapv:UnspecifiedMatching MONDO:0008753 alkaptonuria skos:exactMatch MEDGEN:1413 semapv:UnspecifiedMatching MONDO:0008753 alkaptonuria skos:exactMatch NCIT:C84546 Alkaptonuria semapv:UnspecifiedMatching MONDO:0008753 alkaptonuria skos:exactMatch OMIM:203500 alkaptonuria semapv:UnspecifiedMatching MONDO:0008753 alkaptonuria skos:exactMatch Orphanet:56 Alkaptonuria semapv:UnspecifiedMatching MONDO:0008753 alkaptonuria skos:exactMatch SCTID:360378009 semapv:UnspecifiedMatching MONDO:0008753 alkaptonuria skos:exactMatch UMLS:C0002066 semapv:UnspecifiedMatching MONDO:0008753 alkaptonuria skos:exactMatch icd11.foundation:1761652827 Alkaptonuria semapv:UnspecifiedMatching MONDO:0008753 alkaptonuria skos:exactMatch mesh:D000474 semapv:UnspecifiedMatching MONDO:0008754 alopecia - contractures - dwarfism - intellectual disability syndrome skos:exactMatch MEDGEN:167081 semapv:UnspecifiedMatching MONDO:0008754 alopecia - contractures - dwarfism - intellectual disability syndrome skos:exactMatch OMIM:203550 alopecia, contractures, dwarfism, and impaired intellectual development syndrome semapv:UnspecifiedMatching MONDO:0008754 alopecia - contractures - dwarfism - intellectual disability syndrome skos:exactMatch Orphanet:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0008754 alopecia - contractures - dwarfism - intellectual disability syndrome skos:exactMatch UMLS:C0795895 semapv:UnspecifiedMatching MONDO:0008754 alopecia - contractures - dwarfism - intellectual disability syndrome skos:exactMatch mesh:C537051 semapv:UnspecifiedMatching MONDO:0008755 Moynahan syndrome skos:exactMatch MEDGEN:120535 semapv:UnspecifiedMatching MONDO:0008755 Moynahan syndrome skos:exactMatch OMIM:203600 alopecia-epilepsy-oligophrenia syndrome of moynahan semapv:UnspecifiedMatching MONDO:0008755 Moynahan syndrome skos:exactMatch Orphanet:2574 Moynahan syndrome semapv:UnspecifiedMatching MONDO:0008755 Moynahan syndrome skos:exactMatch UMLS:C0265328 semapv:UnspecifiedMatching MONDO:0008755 Moynahan syndrome skos:exactMatch mesh:C537052 semapv:UnspecifiedMatching MONDO:0008756 alopecia - intellectual disability syndrome skos:exactMatch DOID:0080627 alopecia-mental retardation syndrome semapv:UnspecifiedMatching MONDO:0008756 alopecia - intellectual disability syndrome skos:exactMatch MEDGEN:444019 semapv:UnspecifiedMatching MONDO:0008756 alopecia - intellectual disability syndrome skos:exactMatch OMIMPS:203650 Alopecia-intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0008756 alopecia - intellectual disability syndrome skos:exactMatch Orphanet:2850 Alopecia-intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0008756 alopecia - intellectual disability syndrome skos:exactMatch SCTID:716191002 semapv:UnspecifiedMatching MONDO:0008756 alopecia - intellectual disability syndrome skos:exactMatch UMLS:C2931280 semapv:UnspecifiedMatching MONDO:0008757 alopecia universalis congenita skos:exactMatch DOID:0050634 alopecia universalis semapv:UnspecifiedMatching MONDO:0008757 alopecia universalis congenita skos:exactMatch MEDGEN:349262 semapv:UnspecifiedMatching MONDO:0008757 alopecia universalis congenita skos:exactMatch OMIM:203655 alopecia universalis congenita semapv:UnspecifiedMatching MONDO:0008757 alopecia universalis congenita skos:exactMatch Orphanet:701 Alopecia universalis semapv:UnspecifiedMatching MONDO:0008757 alopecia universalis congenita skos:exactMatch SCTID:86166000 semapv:UnspecifiedMatching MONDO:0008757 alopecia universalis congenita skos:exactMatch UMLS:C1859877 semapv:UnspecifiedMatching MONDO:0008757 alopecia universalis congenita skos:exactMatch mesh:C537055 semapv:UnspecifiedMatching MONDO:0008758 mitochondrial DNA depletion syndrome 4a skos:exactMatch DOID:0080122 Alpers-Huttenlocher syndrome semapv:UnspecifiedMatching MONDO:0008758 mitochondrial DNA depletion syndrome 4a skos:exactMatch ICD10CM:G31.81 Alpers disease semapv:UnspecifiedMatching MONDO:0008758 mitochondrial DNA depletion syndrome 4a skos:exactMatch MEDGEN:60012 semapv:UnspecifiedMatching MONDO:0008758 mitochondrial DNA depletion syndrome 4a skos:exactMatch NCIT:C35257 Alper Syndrome semapv:UnspecifiedMatching MONDO:0008758 mitochondrial DNA depletion syndrome 4a skos:exactMatch OMIM:203700 mitochondrial DNA depletion syndrome 4a (alpers type) semapv:UnspecifiedMatching MONDO:0008758 mitochondrial DNA depletion syndrome 4a skos:exactMatch Orphanet:726 Alpers-Huttenlocher syndrome semapv:UnspecifiedMatching MONDO:0008758 mitochondrial DNA depletion syndrome 4a skos:exactMatch SCTID:20415001 semapv:UnspecifiedMatching MONDO:0008758 mitochondrial DNA depletion syndrome 4a skos:exactMatch UMLS:C0205710 semapv:UnspecifiedMatching MONDO:0008759 oxoglutaricaciduria skos:exactMatch DOID:0081326 oxoglutarate dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0008759 oxoglutaricaciduria skos:exactMatch MEDGEN:414553 semapv:UnspecifiedMatching MONDO:0008759 oxoglutaricaciduria skos:exactMatch OMIM:203740 oxoglutarate dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0008759 oxoglutaricaciduria skos:exactMatch Orphanet:31 Oxoglutaric aciduria semapv:UnspecifiedMatching MONDO:0008759 oxoglutaricaciduria skos:exactMatch SCTID:733630004 semapv:UnspecifiedMatching MONDO:0008759 oxoglutaricaciduria skos:exactMatch UMLS:C2752074 semapv:UnspecifiedMatching MONDO:0008759 oxoglutaricaciduria skos:exactMatch mesh:C536582 semapv:UnspecifiedMatching MONDO:0008760 beta-ketothiolase deficiency skos:exactMatch DOID:14723 beta-ketothiolase deficiency semapv:UnspecifiedMatching MONDO:0008760 beta-ketothiolase deficiency skos:exactMatch MEDGEN:280689 semapv:UnspecifiedMatching MONDO:0008760 beta-ketothiolase deficiency skos:exactMatch NCIT:C98841 Alpha-Methylacetoacetic Aciduria semapv:UnspecifiedMatching MONDO:0008760 beta-ketothiolase deficiency skos:exactMatch OMIM:203750 alpha-methylacetoacetic aciduria semapv:UnspecifiedMatching MONDO:0008760 beta-ketothiolase deficiency skos:exactMatch Orphanet:134 Beta-ketothiolase deficiency semapv:UnspecifiedMatching MONDO:0008760 beta-ketothiolase deficiency skos:exactMatch UMLS:C1536500 semapv:UnspecifiedMatching MONDO:0008760 beta-ketothiolase deficiency skos:exactMatch mesh:C535434 semapv:UnspecifiedMatching MONDO:0008761 obsolete alpha-2-deficient collagen disease skos:exactMatch OMIM:203760 alpha-2-deficient collagen disease semapv:UnspecifiedMatching MONDO:0008761 obsolete alpha-2-deficient collagen disease skos:exactMatch mesh:C565963 semapv:UnspecifiedMatching MONDO:0008762 autosomal recessive Alport syndrome skos:exactMatch DOID:0110033 autosomal recessive Alport syndrome semapv:UnspecifiedMatching MONDO:0008762 autosomal recessive Alport syndrome skos:exactMatch MEDGEN:1648334 semapv:UnspecifiedMatching MONDO:0008762 autosomal recessive Alport syndrome skos:exactMatch OMIM:203780 alport syndrome 2, autosomal recessive semapv:UnspecifiedMatching MONDO:0008762 autosomal recessive Alport syndrome skos:exactMatch Orphanet:88919 Autosomal recessive Alport syndrome semapv:UnspecifiedMatching MONDO:0008762 autosomal recessive Alport syndrome skos:exactMatch SCTID:717767009 semapv:UnspecifiedMatching MONDO:0008762 autosomal recessive Alport syndrome skos:exactMatch UMLS:C4746745 semapv:UnspecifiedMatching MONDO:0008763 Alstrom syndrome skos:exactMatch DOID:0050473 Alstrom syndrome semapv:UnspecifiedMatching MONDO:0008763 Alstrom syndrome skos:exactMatch MEDGEN:78675 semapv:UnspecifiedMatching MONDO:0008763 Alstrom syndrome skos:exactMatch NCIT:C84549 Alstrom Syndrome semapv:UnspecifiedMatching MONDO:0008763 Alstrom syndrome skos:exactMatch OMIM:203800 alstrom syndrome semapv:UnspecifiedMatching MONDO:0008763 Alstrom syndrome skos:exactMatch Orphanet:64 Alström syndrome semapv:UnspecifiedMatching MONDO:0008763 Alstrom syndrome skos:exactMatch SCTID:63702009 semapv:UnspecifiedMatching MONDO:0008763 Alstrom syndrome skos:exactMatch UMLS:C0268425 semapv:UnspecifiedMatching MONDO:0008763 Alstrom syndrome skos:exactMatch mesh:D056769 semapv:UnspecifiedMatching MONDO:0008764 Leber congenital amaurosis 1 skos:exactMatch DOID:0110078 Leber congenital amaurosis 1 semapv:UnspecifiedMatching MONDO:0008764 Leber congenital amaurosis 1 skos:exactMatch MEDGEN:419026 semapv:UnspecifiedMatching MONDO:0008764 Leber congenital amaurosis 1 skos:exactMatch OMIM:204000 leber congenital amaurosis 1 semapv:UnspecifiedMatching MONDO:0008764 Leber congenital amaurosis 1 skos:exactMatch UMLS:C2931258 semapv:UnspecifiedMatching MONDO:0008765 Leber congenital amaurosis 2 skos:exactMatch DOID:0110016 Leber congenital amaurosis 2 semapv:UnspecifiedMatching MONDO:0008765 Leber congenital amaurosis 2 skos:exactMatch MEDGEN:348473 semapv:UnspecifiedMatching MONDO:0008765 Leber congenital amaurosis 2 skos:exactMatch OMIM:204100 leber congenital amaurosis 2 semapv:UnspecifiedMatching MONDO:0008765 Leber congenital amaurosis 2 skos:exactMatch UMLS:C1859844 semapv:UnspecifiedMatching MONDO:0008765 Leber congenital amaurosis 2 skos:exactMatch mesh:C536601 semapv:UnspecifiedMatching MONDO:0008766 amaurosis-hypertrichosis syndrome skos:exactMatch MEDGEN:341805 semapv:UnspecifiedMatching MONDO:0008766 amaurosis-hypertrichosis syndrome skos:exactMatch OMIM:204110 amaurosis congenita, cone-rod type, with congenital hypertrichosis semapv:UnspecifiedMatching MONDO:0008766 amaurosis-hypertrichosis syndrome skos:exactMatch Orphanet:1021 Amaurosis-hypertrichosis syndrome semapv:UnspecifiedMatching MONDO:0008766 amaurosis-hypertrichosis syndrome skos:exactMatch SCTID:720983002 semapv:UnspecifiedMatching MONDO:0008766 amaurosis-hypertrichosis syndrome skos:exactMatch UMLS:C1857588 semapv:UnspecifiedMatching MONDO:0008766 amaurosis-hypertrichosis syndrome skos:exactMatch mesh:C536604 semapv:UnspecifiedMatching MONDO:0008767 neuronal ceroid lipofuscinosis 3 skos:exactMatch DOID:0110731 neuronal ceroid lipofuscinosis 3 semapv:UnspecifiedMatching MONDO:0008767 neuronal ceroid lipofuscinosis 3 skos:exactMatch MEDGEN:155549 semapv:UnspecifiedMatching MONDO:0008767 neuronal ceroid lipofuscinosis 3 skos:exactMatch NCIT:C61258 Neuronal Ceroid Lipofuscinosis Type 3 semapv:UnspecifiedMatching MONDO:0008767 neuronal ceroid lipofuscinosis 3 skos:exactMatch OMIM:204200 ceroid lipofuscinosis, neuronal, 3 semapv:UnspecifiedMatching MONDO:0008767 neuronal ceroid lipofuscinosis 3 skos:exactMatch Orphanet:228346 CLN3 disease semapv:UnspecifiedMatching MONDO:0008767 neuronal ceroid lipofuscinosis 3 skos:exactMatch UMLS:C0751383 semapv:UnspecifiedMatching MONDO:0008768 ceroid lipofuscinosis, neuronal, 6B (Kufs type) skos:exactMatch DOID:0110730 neuronal ceroid lipofuscinosis 6B semapv:UnspecifiedMatching MONDO:0008768 ceroid lipofuscinosis, neuronal, 6B (Kufs type) skos:exactMatch MEDGEN:1794137 semapv:UnspecifiedMatching MONDO:0008768 ceroid lipofuscinosis, neuronal, 6B (Kufs type) skos:exactMatch OMIM:204300 ceroid lipofuscinosis, neuronal, 6b (kufs type) semapv:UnspecifiedMatching MONDO:0008768 ceroid lipofuscinosis, neuronal, 6B (Kufs type) skos:exactMatch Orphanet:700477 Adult CLN6 disease semapv:UnspecifiedMatching MONDO:0008768 ceroid lipofuscinosis, neuronal, 6B (Kufs type) skos:exactMatch UMLS:C5561927 semapv:UnspecifiedMatching MONDO:0008769 neuronal ceroid lipofuscinosis 2 skos:exactMatch DOID:0110726 neuronal ceroid lipofuscinosis 2 semapv:UnspecifiedMatching MONDO:0008769 neuronal ceroid lipofuscinosis 2 skos:exactMatch MEDGEN:406281 semapv:UnspecifiedMatching MONDO:0008769 neuronal ceroid lipofuscinosis 2 skos:exactMatch NCIT:C85864 Neuronal Ceroid Lipofuscinosis Type 2 semapv:UnspecifiedMatching MONDO:0008769 neuronal ceroid lipofuscinosis 2 skos:exactMatch OMIM:204500 ceroid lipofuscinosis, neuronal, 2 semapv:UnspecifiedMatching MONDO:0008769 neuronal ceroid lipofuscinosis 2 skos:exactMatch Orphanet:228349 CLN2 disease semapv:UnspecifiedMatching MONDO:0008769 neuronal ceroid lipofuscinosis 2 skos:exactMatch UMLS:C1876161 semapv:UnspecifiedMatching MONDO:0008770 amelogenesis imperfecta type 1C skos:exactMatch DOID:0110056 amelogenesis imperfecta type 1C semapv:UnspecifiedMatching MONDO:0008770 amelogenesis imperfecta type 1C skos:exactMatch MEDGEN:388763 semapv:UnspecifiedMatching MONDO:0008770 amelogenesis imperfecta type 1C skos:exactMatch OMIM:204650 amelogenesis imperfecta, type 1c semapv:UnspecifiedMatching MONDO:0008770 amelogenesis imperfecta type 1C skos:exactMatch UMLS:C2673923 semapv:UnspecifiedMatching MONDO:0008770 amelogenesis imperfecta type 1C skos:exactMatch mesh:C567147 semapv:UnspecifiedMatching MONDO:0008771 amelogenesis imperfecta type 1G skos:exactMatch DOID:0110066 amelogenesis imperfecta type 1G semapv:UnspecifiedMatching MONDO:0008771 amelogenesis imperfecta type 1G skos:exactMatch MEDGEN:419162 semapv:UnspecifiedMatching MONDO:0008771 amelogenesis imperfecta type 1G skos:exactMatch OMIM:204690 amelogenesis imperfecta, type 1g semapv:UnspecifiedMatching MONDO:0008771 amelogenesis imperfecta type 1G skos:exactMatch Orphanet:1031 Enamel-renal syndrome semapv:UnspecifiedMatching MONDO:0008771 amelogenesis imperfecta type 1G skos:exactMatch SCTID:109477002 semapv:UnspecifiedMatching MONDO:0008771 amelogenesis imperfecta type 1G skos:exactMatch UMLS:C2931783 semapv:UnspecifiedMatching MONDO:0008771 amelogenesis imperfecta type 1G skos:exactMatch mesh:C538241 semapv:UnspecifiedMatching MONDO:0008772 amelogenesis imperfecta type 2A1 skos:exactMatch DOID:0110057 amelogenesis imperfecta type 2A1 semapv:UnspecifiedMatching MONDO:0008772 amelogenesis imperfecta type 2A1 skos:exactMatch MEDGEN:436039 semapv:UnspecifiedMatching MONDO:0008772 amelogenesis imperfecta type 2A1 skos:exactMatch OMIM:204700 amelogenesis imperfecta, hypomaturation type, iia1 semapv:UnspecifiedMatching MONDO:0008772 amelogenesis imperfecta type 2A1 skos:exactMatch UMLS:C2673922 semapv:UnspecifiedMatching MONDO:0008772 amelogenesis imperfecta type 2A1 skos:exactMatch mesh:C538242 semapv:UnspecifiedMatching MONDO:0008772 amelogenesis imperfecta type 2A1 skos:exactMatch mesh:C567146 semapv:UnspecifiedMatching MONDO:0008773 amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis, and acidosis skos:exactMatch MEDGEN:347955 semapv:UnspecifiedMatching MONDO:0008773 amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis, and acidosis skos:exactMatch OMIM:204730 amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis, and acidosis semapv:UnspecifiedMatching MONDO:0008773 amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis, and acidosis skos:exactMatch UMLS:C1859818 semapv:UnspecifiedMatching MONDO:0008773 amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis, and acidosis skos:exactMatch mesh:C565960 semapv:UnspecifiedMatching MONDO:0008774 2-aminoadipic 2-oxoadipic aciduria skos:exactMatch DOID:0111453 2-aminoadipic 2-oxoadipic aciduria semapv:UnspecifiedMatching MONDO:0008774 2-aminoadipic 2-oxoadipic aciduria skos:exactMatch MEDGEN:395350 semapv:UnspecifiedMatching MONDO:0008774 2-aminoadipic 2-oxoadipic aciduria skos:exactMatch OMIM:204750 alpha-aminoadipic and alpha-ketoadipic aciduria semapv:UnspecifiedMatching MONDO:0008774 2-aminoadipic 2-oxoadipic aciduria skos:exactMatch Orphanet:79154 2-aminoadipic 2-oxoadipic aciduria semapv:UnspecifiedMatching MONDO:0008774 2-aminoadipic 2-oxoadipic aciduria skos:exactMatch UMLS:C1859817 semapv:UnspecifiedMatching MONDO:0008774 2-aminoadipic 2-oxoadipic aciduria skos:exactMatch mesh:C565453 semapv:UnspecifiedMatching MONDO:0008775 Amobarbital, deficient N-hydroxylation of skos:exactMatch MEDGEN:347241 semapv:UnspecifiedMatching MONDO:0008775 Amobarbital, deficient N-hydroxylation of skos:exactMatch OMIM:204800 amobarbital, deficient n-hydroxylation of semapv:UnspecifiedMatching MONDO:0008775 Amobarbital, deficient N-hydroxylation of skos:exactMatch UMLS:C1859816 semapv:UnspecifiedMatching MONDO:0008775 Amobarbital, deficient N-hydroxylation of skos:exactMatch mesh:C565959 semapv:UnspecifiedMatching MONDO:0008776 amyloidosis of gingiva and conjunctiva, with intellectual disability skos:exactMatch MEDGEN:347240 semapv:UnspecifiedMatching MONDO:0008776 amyloidosis of gingiva and conjunctiva, with intellectual disability skos:exactMatch OMIM:204850 amyloidosis of gingiva and conjunctiva with impaired intellectual development semapv:UnspecifiedMatching MONDO:0008776 amyloidosis of gingiva and conjunctiva, with intellectual disability skos:exactMatch UMLS:C1859815 semapv:UnspecifiedMatching MONDO:0008776 amyloidosis of gingiva and conjunctiva, with intellectual disability skos:exactMatch mesh:C565958 semapv:UnspecifiedMatching MONDO:0008777 gelatinous drop-like corneal dystrophy skos:exactMatch DOID:0060449 gelatinous drop-like corneal dystrophy semapv:UnspecifiedMatching MONDO:0008777 gelatinous drop-like corneal dystrophy skos:exactMatch MEDGEN:90939 semapv:UnspecifiedMatching MONDO:0008777 gelatinous drop-like corneal dystrophy skos:exactMatch NCIT:C142805 Gelatinous Drop-Like Corneal Dystrophy semapv:UnspecifiedMatching MONDO:0008777 gelatinous drop-like corneal dystrophy skos:exactMatch OMIM:204870 corneal dystrophy, gelatinous drop-like semapv:UnspecifiedMatching MONDO:0008777 gelatinous drop-like corneal dystrophy skos:exactMatch Orphanet:98957 Gelatinous drop-like corneal dystrophy semapv:UnspecifiedMatching MONDO:0008777 gelatinous drop-like corneal dystrophy skos:exactMatch UMLS:C0339273 semapv:UnspecifiedMatching MONDO:0008777 gelatinous drop-like corneal dystrophy skos:exactMatch icd11.foundation:1062815669 Gelatinous drop-like corneal dystrophy semapv:UnspecifiedMatching MONDO:0008777 gelatinous drop-like corneal dystrophy skos:exactMatch mesh:C535480 semapv:UnspecifiedMatching MONDO:0008778 amyloidosis, cutaneous bullous skos:exactMatch MEDGEN:78672 semapv:UnspecifiedMatching MONDO:0008778 amyloidosis, cutaneous bullous skos:exactMatch OMIM:204900 amyloidosis, cutaneous bullous semapv:UnspecifiedMatching MONDO:0008778 amyloidosis, cutaneous bullous skos:exactMatch SCTID:38606009 semapv:UnspecifiedMatching MONDO:0008778 amyloidosis, cutaneous bullous skos:exactMatch UMLS:C0268399 semapv:UnspecifiedMatching MONDO:0008778 amyloidosis, cutaneous bullous skos:exactMatch mesh:C562644 semapv:UnspecifiedMatching MONDO:0008779 arthrogryposis skos:exactMatch EFO:0003857 semapv:UnspecifiedMatching MONDO:0008779 arthrogryposis skos:exactMatch MEDGEN:2455 semapv:UnspecifiedMatching MONDO:0008779 arthrogryposis skos:exactMatch NCIT:C84572 Arthrogryposis semapv:UnspecifiedMatching MONDO:0008779 arthrogryposis skos:exactMatch UMLS:C0003886 semapv:UnspecifiedMatching MONDO:0008779 arthrogryposis skos:exactMatch mesh:D001176 semapv:UnspecifiedMatching MONDO:0008780 amyotrophic lateral sclerosis type 2, juvenile skos:exactMatch DOID:0060194 amyotrophic lateral sclerosis type 2 semapv:UnspecifiedMatching MONDO:0008780 amyotrophic lateral sclerosis type 2, juvenile skos:exactMatch MEDGEN:349246 semapv:UnspecifiedMatching MONDO:0008780 amyotrophic lateral sclerosis type 2, juvenile skos:exactMatch OMIM:205100 amyotrophic lateral sclerosis 2, juvenile semapv:UnspecifiedMatching MONDO:0008780 amyotrophic lateral sclerosis type 2, juvenile skos:exactMatch UMLS:C1859807 semapv:UnspecifiedMatching MONDO:0008780 amyotrophic lateral sclerosis type 2, juvenile skos:exactMatch mesh:C565957 semapv:UnspecifiedMatching MONDO:0008781 juvenile amyotrophic lateral sclerosis with dementia skos:exactMatch DOID:0110067 juvenile amyotrophic lateral sclerosis with dementia semapv:UnspecifiedMatching MONDO:0008781 juvenile amyotrophic lateral sclerosis with dementia skos:exactMatch MEDGEN:395347 semapv:UnspecifiedMatching MONDO:0008781 juvenile amyotrophic lateral sclerosis with dementia skos:exactMatch OMIM:205200 amyotrophic lateral sclerosis, juvenile, with dementia semapv:UnspecifiedMatching MONDO:0008781 juvenile amyotrophic lateral sclerosis with dementia skos:exactMatch UMLS:C1859806 semapv:UnspecifiedMatching MONDO:0008781 juvenile amyotrophic lateral sclerosis with dementia skos:exactMatch mesh:C565956 semapv:UnspecifiedMatching MONDO:0008782 amyotrophic lateral sclerosis with polyglucosan bodies skos:exactMatch MEDGEN:347953 semapv:UnspecifiedMatching MONDO:0008782 amyotrophic lateral sclerosis with polyglucosan bodies skos:exactMatch OMIM:205250 amyotrophic lateral sclerosis with polyglucosan bodies semapv:UnspecifiedMatching MONDO:0008782 amyotrophic lateral sclerosis with polyglucosan bodies skos:exactMatch UMLS:C1859805 semapv:UnspecifiedMatching MONDO:0008782 amyotrophic lateral sclerosis with polyglucosan bodies skos:exactMatch mesh:C565955 semapv:UnspecifiedMatching MONDO:0008783 Tangier disease skos:exactMatch DOID:1388 Tangier disease semapv:UnspecifiedMatching MONDO:0008783 Tangier disease skos:exactMatch MEDGEN:52644 semapv:UnspecifiedMatching MONDO:0008783 Tangier disease skos:exactMatch NCIT:C85182 Tangier Disease semapv:UnspecifiedMatching MONDO:0008783 Tangier disease skos:exactMatch OMIM:205400 tangier disease semapv:UnspecifiedMatching MONDO:0008783 Tangier disease skos:exactMatch Orphanet:31150 Tangier disease semapv:UnspecifiedMatching MONDO:0008783 Tangier disease skos:exactMatch SCTID:723579009 semapv:UnspecifiedMatching MONDO:0008783 Tangier disease skos:exactMatch UMLS:C0039292 semapv:UnspecifiedMatching MONDO:0008783 Tangier disease skos:exactMatch mesh:D013631 semapv:UnspecifiedMatching MONDO:0008785 sideroblastic anemia 2 skos:exactMatch DOID:0060065 autosomal recessive pyridoxine-refractory sideroblastic anemia 2 semapv:UnspecifiedMatching MONDO:0008785 sideroblastic anemia 2 skos:exactMatch MEDGEN:899109 semapv:UnspecifiedMatching MONDO:0008785 sideroblastic anemia 2 skos:exactMatch OMIM:205950 anemia, sideroblastic, 2, pyridoxine-refractory semapv:UnspecifiedMatching MONDO:0008785 sideroblastic anemia 2 skos:exactMatch UMLS:C4225425 semapv:UnspecifiedMatching MONDO:0008785 sideroblastic anemia 2 skos:exactMatch mesh:C567145 semapv:UnspecifiedMatching MONDO:0008786 pyridoxine-responsive sideroblastic anemia skos:exactMatch DOID:0060066 pyridoxine-responsive sideroblastic anemia semapv:UnspecifiedMatching MONDO:0008786 pyridoxine-responsive sideroblastic anemia skos:exactMatch MEDGEN:395346 semapv:UnspecifiedMatching MONDO:0008786 pyridoxine-responsive sideroblastic anemia skos:exactMatch OMIM:206000 anemia, sideroblastic, pyridoxine-responsive, autosomal recessive semapv:UnspecifiedMatching MONDO:0008786 pyridoxine-responsive sideroblastic anemia skos:exactMatch SCTID:191260004 semapv:UnspecifiedMatching MONDO:0008786 pyridoxine-responsive sideroblastic anemia skos:exactMatch UMLS:C1859787 semapv:UnspecifiedMatching MONDO:0008786 pyridoxine-responsive sideroblastic anemia skos:exactMatch mesh:C565954 semapv:UnspecifiedMatching MONDO:0008787 microcytic anemia with liver iron overload skos:exactMatch MEDGEN:812483 semapv:UnspecifiedMatching MONDO:0008787 microcytic anemia with liver iron overload skos:exactMatch OMIM:206100 anemia, hypochromic microcytic, with iron overload 1 semapv:UnspecifiedMatching MONDO:0008787 microcytic anemia with liver iron overload skos:exactMatch Orphanet:83642 Microcytic anemia with liver iron overload semapv:UnspecifiedMatching MONDO:0008787 microcytic anemia with liver iron overload skos:exactMatch SCTID:711161006 semapv:UnspecifiedMatching MONDO:0008787 microcytic anemia with liver iron overload skos:exactMatch UMLS:C3806153 semapv:UnspecifiedMatching MONDO:0008788 IRIDA syndrome skos:exactMatch MEDGEN:39081 semapv:UnspecifiedMatching MONDO:0008788 IRIDA syndrome skos:exactMatch OMIM:206200 iron-refractory iron deficiency anemia semapv:UnspecifiedMatching MONDO:0008788 IRIDA syndrome skos:exactMatch Orphanet:209981 IRIDA syndrome semapv:UnspecifiedMatching MONDO:0008788 IRIDA syndrome skos:exactMatch SCTID:722005000 semapv:UnspecifiedMatching MONDO:0008788 IRIDA syndrome skos:exactMatch UMLS:C0085576 semapv:UnspecifiedMatching MONDO:0008788 IRIDA syndrome skos:exactMatch mesh:C562385 semapv:UnspecifiedMatching MONDO:0008789 anemia, nonspherocytic hemolytic, associated with abnormality of red cell membrane skos:exactMatch MEDGEN:349245 semapv:UnspecifiedMatching MONDO:0008789 anemia, nonspherocytic hemolytic, associated with abnormality of red cell membrane skos:exactMatch OMIM:206300 anemia, nonspherocytic hemolytic, associated with abnormality of red cell membrane semapv:UnspecifiedMatching MONDO:0008789 anemia, nonspherocytic hemolytic, associated with abnormality of red cell membrane skos:exactMatch UMLS:C1859786 semapv:UnspecifiedMatching MONDO:0008789 anemia, nonspherocytic hemolytic, associated with abnormality of red cell membrane skos:exactMatch mesh:C565953 semapv:UnspecifiedMatching MONDO:0008790 anemia, nonspherocytic hemolytic, possibly due to defect in porphyrin metabolism skos:exactMatch MEDGEN:395345 semapv:UnspecifiedMatching MONDO:0008790 anemia, nonspherocytic hemolytic, possibly due to defect in porphyrin metabolism skos:exactMatch OMIM:206400 anemia, nonspherocytic hemolytic, possibly due to defect 1n porphyrin metabolism semapv:UnspecifiedMatching MONDO:0008790 anemia, nonspherocytic hemolytic, possibly due to defect in porphyrin metabolism skos:exactMatch UMLS:C1859785 semapv:UnspecifiedMatching MONDO:0008790 anemia, nonspherocytic hemolytic, possibly due to defect in porphyrin metabolism skos:exactMatch mesh:C565952 semapv:UnspecifiedMatching MONDO:0008791 anencephaly 1 skos:exactMatch MEDGEN:1794138 semapv:UnspecifiedMatching MONDO:0008791 anencephaly 1 skos:exactMatch OMIM:206500 anencephaly 1 semapv:UnspecifiedMatching MONDO:0008791 anencephaly 1 skos:exactMatch Orphanet:1048 Isolated anencephaly/exencephaly semapv:UnspecifiedMatching MONDO:0008791 anencephaly 1 skos:exactMatch SCTID:89369001 semapv:UnspecifiedMatching MONDO:0008791 anencephaly 1 skos:exactMatch UMLS:C5561928 semapv:UnspecifiedMatching MONDO:0008792 familial angiolipomatosis skos:exactMatch MEDGEN:347235 semapv:UnspecifiedMatching MONDO:0008792 familial angiolipomatosis skos:exactMatch OMIM:206550 angiolipomatosis, familial semapv:UnspecifiedMatching MONDO:0008792 familial angiolipomatosis skos:exactMatch Orphanet:199279 Familial angiolipomatosis semapv:UnspecifiedMatching MONDO:0008792 familial angiolipomatosis skos:exactMatch UMLS:C1859784 semapv:UnspecifiedMatching MONDO:0008792 familial angiolipomatosis skos:exactMatch mesh:C565951 semapv:UnspecifiedMatching MONDO:0008793 angiomatosis, diffuse Corticomeningeal, of Divry and van Bogaert skos:exactMatch MEDGEN:347234 semapv:UnspecifiedMatching MONDO:0008793 angiomatosis, diffuse Corticomeningeal, of Divry and van Bogaert skos:exactMatch OMIM:206570 angiomatosis, diffuse corticomeningeal, of divry and van bogaert semapv:UnspecifiedMatching MONDO:0008793 angiomatosis, diffuse Corticomeningeal, of Divry and van Bogaert skos:exactMatch UMLS:C1859783 semapv:UnspecifiedMatching MONDO:0008793 angiomatosis, diffuse Corticomeningeal, of Divry and van Bogaert skos:exactMatch mesh:C536367 semapv:UnspecifiedMatching MONDO:0008794 anhidrosis, familial generalized, with abnormal or absent sweat glands skos:exactMatch MEDGEN:895862 semapv:UnspecifiedMatching MONDO:0008794 anhidrosis, familial generalized, with abnormal or absent sweat glands skos:exactMatch OMIM:206600 anhidrosis, familial generalized, with abnormal or absent sweat glands semapv:UnspecifiedMatching MONDO:0008794 anhidrosis, familial generalized, with abnormal or absent sweat glands skos:exactMatch UMLS:C4225670 semapv:UnspecifiedMatching MONDO:0008795 aniridia-cerebellar ataxia-intellectual disability syndrome skos:exactMatch DOID:0111578 Gillespie syndrome semapv:UnspecifiedMatching MONDO:0008795 aniridia-cerebellar ataxia-intellectual disability syndrome skos:exactMatch MEDGEN:96563 semapv:UnspecifiedMatching MONDO:0008795 aniridia-cerebellar ataxia-intellectual disability syndrome skos:exactMatch OMIM:206700 gillespie syndrome semapv:UnspecifiedMatching MONDO:0008795 aniridia-cerebellar ataxia-intellectual disability syndrome skos:exactMatch Orphanet:1065 Aniridia-cerebellar ataxia-intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0008795 aniridia-cerebellar ataxia-intellectual disability syndrome skos:exactMatch SCTID:253176002 semapv:UnspecifiedMatching MONDO:0008795 aniridia-cerebellar ataxia-intellectual disability syndrome skos:exactMatch UMLS:C0431401 semapv:UnspecifiedMatching MONDO:0008795 aniridia-cerebellar ataxia-intellectual disability syndrome skos:exactMatch mesh:C536370 semapv:UnspecifiedMatching MONDO:0008796 aniridia-renal agenesis-psychomotor retardation syndrome skos:exactMatch MEDGEN:347952 semapv:UnspecifiedMatching MONDO:0008796 aniridia-renal agenesis-psychomotor retardation syndrome skos:exactMatch OMIM:206750 aniridia, partial, with unilateral renal agenesis and psychomotor retardation semapv:UnspecifiedMatching MONDO:0008796 aniridia-renal agenesis-psychomotor retardation syndrome skos:exactMatch Orphanet:1064 Aniridia-renal agenesis-psychomotor retardation syndrome semapv:UnspecifiedMatching MONDO:0008796 aniridia-renal agenesis-psychomotor retardation syndrome skos:exactMatch SCTID:733116005 semapv:UnspecifiedMatching MONDO:0008796 aniridia-renal agenesis-psychomotor retardation syndrome skos:exactMatch UMLS:C1859782 semapv:UnspecifiedMatching MONDO:0008796 aniridia-renal agenesis-psychomotor retardation syndrome skos:exactMatch mesh:C000598722 semapv:UnspecifiedMatching MONDO:0008797 anodontia skos:exactMatch DOID:13714 anodontia semapv:UnspecifiedMatching MONDO:0008797 anodontia skos:exactMatch MEDGEN:98313 semapv:UnspecifiedMatching MONDO:0008797 anodontia skos:exactMatch OMIM:206780 anodontia of permanent dentition semapv:UnspecifiedMatching MONDO:0008797 anodontia skos:exactMatch Orphanet:99797 Anodontia semapv:UnspecifiedMatching MONDO:0008797 anodontia skos:exactMatch SCTID:16958000 semapv:UnspecifiedMatching MONDO:0008797 anodontia skos:exactMatch UMLS:C0399352 semapv:UnspecifiedMatching MONDO:0008797 anodontia skos:exactMatch icd11.foundation:413433873 Anodontia semapv:UnspecifiedMatching MONDO:0008797 anodontia skos:exactMatch mesh:D000848 semapv:UnspecifiedMatching MONDO:0008798 nonsyndromic congenital nail disorder 4 skos:exactMatch DOID:0080082 nonsyndromic congenital nail disorder 4 semapv:UnspecifiedMatching MONDO:0008798 nonsyndromic congenital nail disorder 4 skos:exactMatch MEDGEN:479530 semapv:UnspecifiedMatching MONDO:0008798 nonsyndromic congenital nail disorder 4 skos:exactMatch OMIM:206800 nail disorder, nonsyndromic congenital, 4 semapv:UnspecifiedMatching MONDO:0008798 nonsyndromic congenital nail disorder 4 skos:exactMatch Orphanet:94150 Anonychia congenita totalis semapv:UnspecifiedMatching MONDO:0008798 nonsyndromic congenital nail disorder 4 skos:exactMatch UMLS:C3277900 semapv:UnspecifiedMatching MONDO:0008798 nonsyndromic congenital nail disorder 4 skos:exactMatch mesh:C536377 semapv:UnspecifiedMatching MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome skos:exactMatch DOID:0111801 syndromic microphthalmia 3 semapv:UnspecifiedMatching MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome skos:exactMatch MEDGEN:347232 semapv:UnspecifiedMatching MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome skos:exactMatch OMIM:206900 microphthalmia, syndromic 3 semapv:UnspecifiedMatching MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome skos:exactMatch Orphanet:77298 Anophthalmia/microphthalmia-esophageal atresia syndrome semapv:UnspecifiedMatching MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome skos:exactMatch SCTID:698851003 semapv:UnspecifiedMatching MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome skos:exactMatch UMLS:C1859773 semapv:UnspecifiedMatching MONDO:0008800 microphthalmia with limb anomalies skos:exactMatch DOID:0060861 microphthalmia with limb anomalies semapv:UnspecifiedMatching MONDO:0008800 microphthalmia with limb anomalies skos:exactMatch MEDGEN:154638 semapv:UnspecifiedMatching MONDO:0008800 microphthalmia with limb anomalies skos:exactMatch OMIM:206920 microphthalmia with limb anomalies semapv:UnspecifiedMatching MONDO:0008800 microphthalmia with limb anomalies skos:exactMatch Orphanet:1106 Microphthalmia with limb anomalies semapv:UnspecifiedMatching MONDO:0008800 microphthalmia with limb anomalies skos:exactMatch SCTID:703403003 semapv:UnspecifiedMatching MONDO:0008800 microphthalmia with limb anomalies skos:exactMatch UMLS:C0599973 semapv:UnspecifiedMatching MONDO:0008800 microphthalmia with limb anomalies skos:exactMatch mesh:C537769 semapv:UnspecifiedMatching MONDO:0008801 anosmia for isobutyric acid skos:exactMatch MEDGEN:347228 semapv:UnspecifiedMatching MONDO:0008801 anosmia for isobutyric acid skos:exactMatch OMIM:207000 anosmia for isobutyric acid semapv:UnspecifiedMatching MONDO:0008801 anosmia for isobutyric acid skos:exactMatch UMLS:C1859762 semapv:UnspecifiedMatching MONDO:0008802 antithrombin, familial hemorrhagic diathesis due to skos:exactMatch MEDGEN:347227 semapv:UnspecifiedMatching MONDO:0008802 antithrombin, familial hemorrhagic diathesis due to skos:exactMatch OMIM:207300 antithrombin, familial hemorrhagic diathesis due to semapv:UnspecifiedMatching MONDO:0008802 antithrombin, familial hemorrhagic diathesis due to skos:exactMatch UMLS:C1859761 semapv:UnspecifiedMatching MONDO:0008802 antithrombin, familial hemorrhagic diathesis due to skos:exactMatch mesh:C565947 semapv:UnspecifiedMatching MONDO:0008803 Antley-Bixler syndrome skos:exactMatch DOID:0050462 Antley-Bixler syndrome with disordered steroidogenesis semapv:UnspecifiedMatching MONDO:0008803 Antley-Bixler syndrome skos:exactMatch DOID:0081289 Antley-Bixler syndrome semapv:UnspecifiedMatching MONDO:0008803 Antley-Bixler syndrome skos:exactMatch MEDGEN:1714404 semapv:UnspecifiedMatching MONDO:0008803 Antley-Bixler syndrome skos:exactMatch Orphanet:83 Antley-Bixler syndrome semapv:UnspecifiedMatching MONDO:0008803 Antley-Bixler syndrome skos:exactMatch SCTID:62964007 semapv:UnspecifiedMatching MONDO:0008803 Antley-Bixler syndrome skos:exactMatch UMLS:C5234850 semapv:UnspecifiedMatching MONDO:0008803 Antley-Bixler syndrome skos:exactMatch icd11.foundation:2027710139 Antley-Bixler syndrome semapv:UnspecifiedMatching MONDO:0008806 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome skos:exactMatch MEDGEN:347225 semapv:UnspecifiedMatching MONDO:0008806 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome skos:exactMatch OMIM:207620 aphalangy with hemivertebrae semapv:UnspecifiedMatching MONDO:0008806 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome skos:exactMatch Orphanet:1112 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome semapv:UnspecifiedMatching MONDO:0008806 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome skos:exactMatch SCTID:733118006 semapv:UnspecifiedMatching MONDO:0008806 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome skos:exactMatch UMLS:C1859754 semapv:UnspecifiedMatching MONDO:0008806 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome skos:exactMatch mesh:C535881 semapv:UnspecifiedMatching MONDO:0008807 obsolete apnea, central sleep skos:exactMatch OMIM:107640 apnea, central sleep, autosomal dominant semapv:UnspecifiedMatching MONDO:0008807 obsolete apnea, central sleep skos:exactMatch OMIM:207720 apnea, central sleep, autosomal recessive semapv:UnspecifiedMatching MONDO:0008808 aplasia cutis congenita-intestinal lymphangiectasia syndrome skos:exactMatch MEDGEN:349241 semapv:UnspecifiedMatching MONDO:0008808 aplasia cutis congenita-intestinal lymphangiectasia syndrome skos:exactMatch OMIM:207731 aplasia cutis congenita with intestinal lymphangiectasia semapv:UnspecifiedMatching MONDO:0008808 aplasia cutis congenita-intestinal lymphangiectasia syndrome skos:exactMatch Orphanet:1116 Aplasia cutis congenita-intestinal lymphangiectasia syndrome semapv:UnspecifiedMatching MONDO:0008808 aplasia cutis congenita-intestinal lymphangiectasia syndrome skos:exactMatch SCTID:720500008 semapv:UnspecifiedMatching MONDO:0008808 aplasia cutis congenita-intestinal lymphangiectasia syndrome skos:exactMatch UMLS:C1859753 semapv:UnspecifiedMatching MONDO:0008808 aplasia cutis congenita-intestinal lymphangiectasia syndrome skos:exactMatch mesh:C537788 semapv:UnspecifiedMatching MONDO:0008809 polyneuropathy-hand defect syndrome skos:exactMatch MEDGEN:349240 semapv:UnspecifiedMatching MONDO:0008809 polyneuropathy-hand defect syndrome skos:exactMatch OMIM:207740 aplasia of extensor muscles of fingers, unilateral, with generalized polyneuropathy semapv:UnspecifiedMatching MONDO:0008809 polyneuropathy-hand defect syndrome skos:exactMatch Orphanet:2926 Digital extensor muscle aplasia-polyneuropathy semapv:UnspecifiedMatching MONDO:0008809 polyneuropathy-hand defect syndrome skos:exactMatch UMLS:C1859752 semapv:UnspecifiedMatching MONDO:0008809 polyneuropathy-hand defect syndrome skos:exactMatch mesh:C535624 semapv:UnspecifiedMatching MONDO:0008810 familial apolipoprotein C-II deficiency skos:exactMatch DOID:0111418 familial apolipoprotein C-II deficiency semapv:UnspecifiedMatching MONDO:0008810 familial apolipoprotein C-II deficiency skos:exactMatch MEDGEN:328375 semapv:UnspecifiedMatching MONDO:0008810 familial apolipoprotein C-II deficiency skos:exactMatch OMIM:207750 apolipoprotein c-ii deficiency semapv:UnspecifiedMatching MONDO:0008810 familial apolipoprotein C-II deficiency skos:exactMatch Orphanet:309020 Familial apolipoprotein C-II deficiency semapv:UnspecifiedMatching MONDO:0008810 familial apolipoprotein C-II deficiency skos:exactMatch SCTID:33513003 semapv:UnspecifiedMatching MONDO:0008810 familial apolipoprotein C-II deficiency skos:exactMatch UMLS:C1720779 semapv:UnspecifiedMatching MONDO:0008810 familial apolipoprotein C-II deficiency skos:exactMatch icd11.foundation:877401371 Familial apolipoprotein C-II deficiency semapv:UnspecifiedMatching MONDO:0008811 XK aprosencephaly skos:exactMatch MEDGEN:167087 semapv:UnspecifiedMatching MONDO:0008811 XK aprosencephaly skos:exactMatch OMIM:207770 aprosencephaly syndrome semapv:UnspecifiedMatching MONDO:0008811 XK aprosencephaly skos:exactMatch Orphanet:3469 XK aprosencephaly syndrome semapv:UnspecifiedMatching MONDO:0008811 XK aprosencephaly skos:exactMatch SCTID:277921008 semapv:UnspecifiedMatching MONDO:0008811 XK aprosencephaly skos:exactMatch UMLS:C0795952 semapv:UnspecifiedMatching MONDO:0008811 XK aprosencephaly skos:exactMatch icd11.foundation:1805259428 XK aprosencephaly semapv:UnspecifiedMatching MONDO:0008811 XK aprosencephaly skos:exactMatch mesh:C536767 semapv:UnspecifiedMatching MONDO:0008812 AREDYLD syndrome skos:exactMatch MEDGEN:87435 semapv:UnspecifiedMatching MONDO:0008812 AREDYLD syndrome skos:exactMatch OMIM:207780 aredyld semapv:UnspecifiedMatching MONDO:0008812 AREDYLD syndrome skos:exactMatch Orphanet:1133 AREDYLD syndrome semapv:UnspecifiedMatching MONDO:0008812 AREDYLD syndrome skos:exactMatch SCTID:237610008 semapv:UnspecifiedMatching MONDO:0008812 AREDYLD syndrome skos:exactMatch UMLS:C0342280 semapv:UnspecifiedMatching MONDO:0008812 AREDYLD syndrome skos:exactMatch icd11.foundation:2007371732 AREDYLD syndrome semapv:UnspecifiedMatching MONDO:0008812 AREDYLD syndrome skos:exactMatch mesh:C537427 semapv:UnspecifiedMatching MONDO:0008813 arachnoid cyst skos:exactMatch MEDGEN:86860 semapv:UnspecifiedMatching MONDO:0008813 arachnoid cyst skos:exactMatch NCIT:C3455 Arachnoid Cyst semapv:UnspecifiedMatching MONDO:0008813 arachnoid cyst skos:exactMatch Orphanet:2356 Arachnoid cyst semapv:UnspecifiedMatching MONDO:0008813 arachnoid cyst skos:exactMatch SCTID:33595009 semapv:UnspecifiedMatching MONDO:0008813 arachnoid cyst skos:exactMatch UMLS:C0078981 semapv:UnspecifiedMatching MONDO:0008813 arachnoid cyst skos:exactMatch mesh:D016080 semapv:UnspecifiedMatching MONDO:0008814 arginase deficiency skos:exactMatch DOID:9278 hyperargininemia semapv:UnspecifiedMatching MONDO:0008814 arginase deficiency skos:exactMatch ICD10CM:E72.21 Argininemia semapv:UnspecifiedMatching MONDO:0008814 arginase deficiency skos:exactMatch MEDGEN:78688 semapv:UnspecifiedMatching MONDO:0008814 arginase deficiency skos:exactMatch NCIT:C84568 Argininemia semapv:UnspecifiedMatching MONDO:0008814 arginase deficiency skos:exactMatch OMIM:207800 argininemia semapv:UnspecifiedMatching MONDO:0008814 arginase deficiency skos:exactMatch Orphanet:90 Argininemia semapv:UnspecifiedMatching MONDO:0008814 arginase deficiency skos:exactMatch SCTID:23501004 semapv:UnspecifiedMatching MONDO:0008814 arginase deficiency skos:exactMatch UMLS:C0268548 semapv:UnspecifiedMatching MONDO:0008814 arginase deficiency skos:exactMatch icd11.foundation:1619102598 Argininaemia semapv:UnspecifiedMatching MONDO:0008814 arginase deficiency skos:exactMatch mesh:D020162 semapv:UnspecifiedMatching MONDO:0008815 argininosuccinic aciduria skos:exactMatch DOID:14755 argininosuccinic aciduria semapv:UnspecifiedMatching MONDO:0008815 argininosuccinic aciduria skos:exactMatch MEDGEN:78687 semapv:UnspecifiedMatching MONDO:0008815 argininosuccinic aciduria skos:exactMatch NCIT:C84569 Argininosuccinic Aciduria semapv:UnspecifiedMatching MONDO:0008815 argininosuccinic aciduria skos:exactMatch OMIM:207900 argininosuccinic aciduria semapv:UnspecifiedMatching MONDO:0008815 argininosuccinic aciduria skos:exactMatch Orphanet:23 Argininosuccinic aciduria semapv:UnspecifiedMatching MONDO:0008815 argininosuccinic aciduria skos:exactMatch SCTID:41013004 semapv:UnspecifiedMatching MONDO:0008815 argininosuccinic aciduria skos:exactMatch UMLS:C0268547 semapv:UnspecifiedMatching MONDO:0008815 argininosuccinic aciduria skos:exactMatch icd11.foundation:439383288 Argininosuccinic aciduria semapv:UnspecifiedMatching MONDO:0008815 argininosuccinic aciduria skos:exactMatch mesh:D056807 semapv:UnspecifiedMatching MONDO:0008816 Chiari malformation type II skos:exactMatch MEDGEN:108222 semapv:UnspecifiedMatching MONDO:0008816 Chiari malformation type II skos:exactMatch OMIM:207950 chiari malformation type 2 semapv:UnspecifiedMatching MONDO:0008816 Chiari malformation type II skos:exactMatch SCTID:373587001 semapv:UnspecifiedMatching MONDO:0008816 Chiari malformation type II skos:exactMatch UMLS:C0555206 semapv:UnspecifiedMatching MONDO:0008817 arterial calcification, generalized, of infancy, 1 skos:exactMatch MEDGEN:1631685 semapv:UnspecifiedMatching MONDO:0008817 arterial calcification, generalized, of infancy, 1 skos:exactMatch NCIT:C128805 Generalized Arterial Calcification of Infancy 1 semapv:UnspecifiedMatching MONDO:0008817 arterial calcification, generalized, of infancy, 1 skos:exactMatch OMIM:208000 arterial calcification, generalized, of infancy, 1 semapv:UnspecifiedMatching MONDO:0008817 arterial calcification, generalized, of infancy, 1 skos:exactMatch UMLS:C4551985 semapv:UnspecifiedMatching MONDO:0008818 arterial tortuosity syndrome skos:exactMatch DOID:0050645 arterial tortuosity syndrome semapv:UnspecifiedMatching MONDO:0008818 arterial tortuosity syndrome skos:exactMatch ICD10CM:Q87.82 Arterial tortuosity syndrome semapv:UnspecifiedMatching MONDO:0008818 arterial tortuosity syndrome skos:exactMatch MEDGEN:347942 semapv:UnspecifiedMatching MONDO:0008818 arterial tortuosity syndrome skos:exactMatch OMIM:208050 arterial tortuosity syndrome semapv:UnspecifiedMatching MONDO:0008818 arterial tortuosity syndrome skos:exactMatch Orphanet:3342 Arterial tortuosity syndrome semapv:UnspecifiedMatching MONDO:0008818 arterial tortuosity syndrome skos:exactMatch SCTID:458432002 semapv:UnspecifiedMatching MONDO:0008818 arterial tortuosity syndrome skos:exactMatch UMLS:C1859726 semapv:UnspecifiedMatching MONDO:0008818 arterial tortuosity syndrome skos:exactMatch icd11.foundation:371764699 Arterial tortuosity syndrome semapv:UnspecifiedMatching MONDO:0008818 arterial tortuosity syndrome skos:exactMatch mesh:C565942 semapv:UnspecifiedMatching MONDO:0008819 arteriosclerosis, severe juvenile skos:exactMatch MEDGEN:395330 semapv:UnspecifiedMatching MONDO:0008819 arteriosclerosis, severe juvenile skos:exactMatch OMIM:208060 arteriosclerosis, severe juvenile semapv:UnspecifiedMatching MONDO:0008819 arteriosclerosis, severe juvenile skos:exactMatch UMLS:C1859725 semapv:UnspecifiedMatching MONDO:0008819 arteriosclerosis, severe juvenile skos:exactMatch mesh:C565941 semapv:UnspecifiedMatching MONDO:0008821 arthrogryposis, distal, with intellectual disability and characteristic facies skos:exactMatch MEDGEN:1844539 semapv:UnspecifiedMatching MONDO:0008821 arthrogryposis, distal, with intellectual disability and characteristic facies skos:exactMatch OMIM:208081 arthrogryposis, distal, with impaired intellectual development and characteristic facies semapv:UnspecifiedMatching MONDO:0008821 arthrogryposis, distal, with intellectual disability and characteristic facies skos:exactMatch UMLS:C5882782 semapv:UnspecifiedMatching MONDO:0008821 arthrogryposis, distal, with intellectual disability and characteristic facies skos:exactMatch mesh:C565940 semapv:UnspecifiedMatching MONDO:0008822 arthrogryposis, renal dysfunction, and cholestasis 1 skos:exactMatch DOID:0111353 arthrogryposis, renal dysfunction, and cholestasis 1 semapv:UnspecifiedMatching MONDO:0008822 arthrogryposis, renal dysfunction, and cholestasis 1 skos:exactMatch MEDGEN:347219 semapv:UnspecifiedMatching MONDO:0008822 arthrogryposis, renal dysfunction, and cholestasis 1 skos:exactMatch OMIM:208085 arthrogryposis, renal dysfunction, and cholestasis 1 semapv:UnspecifiedMatching MONDO:0008822 arthrogryposis, renal dysfunction, and cholestasis 1 skos:exactMatch UMLS:C1859722 semapv:UnspecifiedMatching MONDO:0008823 arthrogryposis multiplex congenita 2, neurogenic type skos:exactMatch DOID:0090124 neurogenic-type arthrogryposis multiplex congenita-2 semapv:UnspecifiedMatching MONDO:0008823 arthrogryposis multiplex congenita 2, neurogenic type skos:exactMatch MEDGEN:1725686 semapv:UnspecifiedMatching MONDO:0008823 arthrogryposis multiplex congenita 2, neurogenic type skos:exactMatch OMIM:208100 arthrogryposis multiplex congenita 2, neurogenic type semapv:UnspecifiedMatching MONDO:0008823 arthrogryposis multiplex congenita 2, neurogenic type skos:exactMatch Orphanet:1143 Neurogenic arthrogryposis multiplex congenita semapv:UnspecifiedMatching MONDO:0008823 arthrogryposis multiplex congenita 2, neurogenic type skos:exactMatch SCTID:715316005 semapv:UnspecifiedMatching MONDO:0008823 arthrogryposis multiplex congenita 2, neurogenic type skos:exactMatch UMLS:C5435650 semapv:UnspecifiedMatching MONDO:0008823 arthrogryposis multiplex congenita 2, neurogenic type skos:exactMatch mesh:C536614 semapv:UnspecifiedMatching MONDO:0008824 fetal akinesia deformation sequence skos:exactMatch DOID:0111375 fetal akinesia deformation sequence syndrome semapv:UnspecifiedMatching MONDO:0008824 fetal akinesia deformation sequence skos:exactMatch NCIT:C129071 Fetal Akinesia Deformation Sequence semapv:UnspecifiedMatching MONDO:0008824 fetal akinesia deformation sequence skos:exactMatch OMIMPS:208150 Fetal akinesia deformation sequence semapv:UnspecifiedMatching MONDO:0008824 fetal akinesia deformation sequence skos:exactMatch SCTID:401138005 semapv:UnspecifiedMatching MONDO:0008824 fetal akinesia deformation sequence skos:exactMatch mesh:C536647 semapv:UnspecifiedMatching MONDO:0008825 arthrogryposis multiplex congenita-whistling face syndrome skos:exactMatch MEDGEN:349231 semapv:UnspecifiedMatching MONDO:0008825 arthrogryposis multiplex congenita-whistling face syndrome skos:exactMatch OMIM:208155 illum syndrome semapv:UnspecifiedMatching MONDO:0008825 arthrogryposis multiplex congenita-whistling face syndrome skos:exactMatch Orphanet:1150 Arthrogryposis multiplex congenita-whistling face syndrome semapv:UnspecifiedMatching MONDO:0008825 arthrogryposis multiplex congenita-whistling face syndrome skos:exactMatch SCTID:720514008 semapv:UnspecifiedMatching MONDO:0008825 arthrogryposis multiplex congenita-whistling face syndrome skos:exactMatch UMLS:C1859711 semapv:UnspecifiedMatching MONDO:0008825 arthrogryposis multiplex congenita-whistling face syndrome skos:exactMatch mesh:C538401 semapv:UnspecifiedMatching MONDO:0008826 arthrogryposis-hyperkeratosis syndrome, lethal form skos:exactMatch MEDGEN:349230 semapv:UnspecifiedMatching MONDO:0008826 arthrogryposis-hyperkeratosis syndrome, lethal form skos:exactMatch OMIM:208158 arthrogryposis with hyperkeratosis semapv:UnspecifiedMatching MONDO:0008826 arthrogryposis-hyperkeratosis syndrome, lethal form skos:exactMatch Orphanet:1485 Arthrogryposis-hyperkeratosis syndrome, lethal form semapv:UnspecifiedMatching MONDO:0008826 arthrogryposis-hyperkeratosis syndrome, lethal form skos:exactMatch SCTID:726620005 semapv:UnspecifiedMatching MONDO:0008826 arthrogryposis-hyperkeratosis syndrome, lethal form skos:exactMatch UMLS:C1859710 semapv:UnspecifiedMatching MONDO:0008826 arthrogryposis-hyperkeratosis syndrome, lethal form skos:exactMatch mesh:C535883 semapv:UnspecifiedMatching MONDO:0008827 progressive pseudorheumatoid arthropathy of childhood skos:exactMatch DOID:0090004 progressive pseudorheumatoid arthropathy of childhood semapv:UnspecifiedMatching MONDO:0008827 progressive pseudorheumatoid arthropathy of childhood skos:exactMatch MEDGEN:96581 semapv:UnspecifiedMatching MONDO:0008827 progressive pseudorheumatoid arthropathy of childhood skos:exactMatch OMIM:208230 progressive pseudorheumatoid dysplasia semapv:UnspecifiedMatching MONDO:0008827 progressive pseudorheumatoid arthropathy of childhood skos:exactMatch Orphanet:1159 Progressive pseudorheumatoid dysplasia semapv:UnspecifiedMatching MONDO:0008827 progressive pseudorheumatoid arthropathy of childhood skos:exactMatch SCTID:254065005 semapv:UnspecifiedMatching MONDO:0008827 progressive pseudorheumatoid arthropathy of childhood skos:exactMatch UMLS:C0432215 semapv:UnspecifiedMatching MONDO:0008827 progressive pseudorheumatoid arthropathy of childhood skos:exactMatch icd11.foundation:280808713 Progressive pseudorheumatoid arthropathy of childhood semapv:UnspecifiedMatching MONDO:0008827 progressive pseudorheumatoid arthropathy of childhood skos:exactMatch mesh:C535387 semapv:UnspecifiedMatching MONDO:0008828 camptodactyly-arthropathy-coxa vara-pericarditis syndrome skos:exactMatch DOID:0090127 camptodactyly-arthropathy-coxa vara-pericarditis syndrome semapv:UnspecifiedMatching MONDO:0008828 camptodactyly-arthropathy-coxa vara-pericarditis syndrome skos:exactMatch EFO:0009028 semapv:UnspecifiedMatching MONDO:0008828 camptodactyly-arthropathy-coxa vara-pericarditis syndrome skos:exactMatch MEDGEN:349226 semapv:UnspecifiedMatching MONDO:0008828 camptodactyly-arthropathy-coxa vara-pericarditis syndrome skos:exactMatch OMIM:208250 camptodactyly-arthropathy-coxa vara-pericarditis syndrome semapv:UnspecifiedMatching MONDO:0008828 camptodactyly-arthropathy-coxa vara-pericarditis syndrome skos:exactMatch Orphanet:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome semapv:UnspecifiedMatching MONDO:0008828 camptodactyly-arthropathy-coxa vara-pericarditis syndrome skos:exactMatch UMLS:C1859690 semapv:UnspecifiedMatching MONDO:0008828 camptodactyly-arthropathy-coxa vara-pericarditis syndrome skos:exactMatch mesh:C537560 semapv:UnspecifiedMatching MONDO:0008829 chylous ascites skos:exactMatch MEDGEN:969 semapv:UnspecifiedMatching MONDO:0008829 chylous ascites skos:exactMatch NCIT:C34482 Chylous Peritoneal Effusion semapv:UnspecifiedMatching MONDO:0008829 chylous ascites skos:exactMatch OMIM:208300 ascites, chylous semapv:UnspecifiedMatching MONDO:0008829 chylous ascites skos:exactMatch Orphanet:1160 Chylous ascites semapv:UnspecifiedMatching MONDO:0008829 chylous ascites skos:exactMatch SCTID:52985009 semapv:UnspecifiedMatching MONDO:0008829 chylous ascites skos:exactMatch UMLS:C0008732 semapv:UnspecifiedMatching MONDO:0008829 chylous ascites skos:exactMatch icd11.foundation:768846885 Chylous ascites semapv:UnspecifiedMatching MONDO:0008829 chylous ascites skos:exactMatch mesh:D002915 semapv:UnspecifiedMatching MONDO:0008830 aspartylglucosaminuria skos:exactMatch DOID:0050461 aspartylglucosaminuria semapv:UnspecifiedMatching MONDO:0008830 aspartylglucosaminuria skos:exactMatch MEDGEN:78649 semapv:UnspecifiedMatching MONDO:0008830 aspartylglucosaminuria skos:exactMatch NCIT:C61273 Aspartylglycosaminuria semapv:UnspecifiedMatching MONDO:0008830 aspartylglucosaminuria skos:exactMatch OMIM:208400 aspartylglucosaminuria semapv:UnspecifiedMatching MONDO:0008830 aspartylglucosaminuria skos:exactMatch Orphanet:93 Aspartylglucosaminuria semapv:UnspecifiedMatching MONDO:0008830 aspartylglucosaminuria skos:exactMatch SCTID:54954004 semapv:UnspecifiedMatching MONDO:0008830 aspartylglucosaminuria skos:exactMatch UMLS:C0268225 semapv:UnspecifiedMatching MONDO:0008830 aspartylglucosaminuria skos:exactMatch icd11.foundation:2143470200 Aspartylglucosaminuria semapv:UnspecifiedMatching MONDO:0008830 aspartylglucosaminuria skos:exactMatch mesh:D054880 semapv:UnspecifiedMatching MONDO:0008831 asphyxiating thoracic dystrophy 1 skos:exactMatch DOID:0110085 asphyxiating thoracic dystrophy 1 semapv:UnspecifiedMatching MONDO:0008831 asphyxiating thoracic dystrophy 1 skos:exactMatch MEDGEN:1648057 semapv:UnspecifiedMatching MONDO:0008831 asphyxiating thoracic dystrophy 1 skos:exactMatch OMIM:208500 short-rib thoracic dysplasia 1 with or without polydactyly semapv:UnspecifiedMatching MONDO:0008831 asphyxiating thoracic dystrophy 1 skos:exactMatch UMLS:C4551856 semapv:UnspecifiedMatching MONDO:0008832 right atrial isomerism skos:exactMatch DOID:0060856 right atrial isomerism semapv:UnspecifiedMatching MONDO:0008832 right atrial isomerism skos:exactMatch MEDGEN:465274 semapv:UnspecifiedMatching MONDO:0008832 right atrial isomerism skos:exactMatch OMIM:208530 right atrial isomerism semapv:UnspecifiedMatching MONDO:0008832 right atrial isomerism skos:exactMatch Orphanet:97548 Right sided atrial isomerism semapv:UnspecifiedMatching MONDO:0008832 right atrial isomerism skos:exactMatch UMLS:C3178806 semapv:UnspecifiedMatching MONDO:0008833 renal-hepatic-pancreatic dysplasia 1 skos:exactMatch MEDGEN:811626 semapv:UnspecifiedMatching MONDO:0008833 renal-hepatic-pancreatic dysplasia 1 skos:exactMatch OMIM:208540 renal-hepatic-pancreatic dysplasia 1 semapv:UnspecifiedMatching MONDO:0008833 renal-hepatic-pancreatic dysplasia 1 skos:exactMatch UMLS:C3715199 semapv:UnspecifiedMatching MONDO:0008834 asthma, nasal polyps, and aspirin intolerance skos:exactMatch DOID:0111579 asthma, nasal polyps, and aspirin intolerance semapv:UnspecifiedMatching MONDO:0008834 asthma, nasal polyps, and aspirin intolerance skos:exactMatch MEDGEN:347198 semapv:UnspecifiedMatching MONDO:0008834 asthma, nasal polyps, and aspirin intolerance skos:exactMatch OMIM:208550 asthma, nasal polyps, and aspirin intolerance semapv:UnspecifiedMatching MONDO:0008834 asthma, nasal polyps, and aspirin intolerance skos:exactMatch UMLS:C1859648 semapv:UnspecifiedMatching MONDO:0008835 asthma, short stature, and elevated IgA skos:exactMatch MEDGEN:395313 semapv:UnspecifiedMatching MONDO:0008835 asthma, short stature, and elevated IgA skos:exactMatch OMIM:208600 asthma, short stature, and elevated iga semapv:UnspecifiedMatching MONDO:0008835 asthma, short stature, and elevated IgA skos:exactMatch UMLS:C1859647 semapv:UnspecifiedMatching MONDO:0008835 asthma, short stature, and elevated IgA skos:exactMatch mesh:C565934 semapv:UnspecifiedMatching MONDO:0008836 ataxia with myoclonic epilepsy and presenile dementia skos:exactMatch MEDGEN:347924 semapv:UnspecifiedMatching MONDO:0008836 ataxia with myoclonic epilepsy and presenile dementia skos:exactMatch OMIM:208700 ataxia with myoclonic epilepsy and presenile dementia semapv:UnspecifiedMatching MONDO:0008836 ataxia with myoclonic epilepsy and presenile dementia skos:exactMatch UMLS:C1859646 semapv:UnspecifiedMatching MONDO:0008836 ataxia with myoclonic epilepsy and presenile dementia skos:exactMatch mesh:C565933 semapv:UnspecifiedMatching MONDO:0008837 ataxia, deafness, and cardiomyopathy skos:exactMatch MEDGEN:395312 semapv:UnspecifiedMatching MONDO:0008837 ataxia, deafness, and cardiomyopathy skos:exactMatch OMIM:208750 ataxia, deafness, and cardiomyopathy semapv:UnspecifiedMatching MONDO:0008837 ataxia, deafness, and cardiomyopathy skos:exactMatch UMLS:C1859645 semapv:UnspecifiedMatching MONDO:0008837 ataxia, deafness, and cardiomyopathy skos:exactMatch mesh:C565932 semapv:UnspecifiedMatching MONDO:0008838 ataxia - deafness - intellectual disability syndrome skos:exactMatch MEDGEN:208659 semapv:UnspecifiedMatching MONDO:0008838 ataxia - deafness - intellectual disability syndrome skos:exactMatch OMIM:208850 ataxia-deafness-retardation syndrome semapv:UnspecifiedMatching MONDO:0008838 ataxia - deafness - intellectual disability syndrome skos:exactMatch Orphanet:1188 Ataxia-deafness-intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0008838 ataxia - deafness - intellectual disability syndrome skos:exactMatch SCTID:720517001 semapv:UnspecifiedMatching MONDO:0008838 ataxia - deafness - intellectual disability syndrome skos:exactMatch UMLS:C0796045 semapv:UnspecifiedMatching MONDO:0008838 ataxia - deafness - intellectual disability syndrome skos:exactMatch icd11.foundation:2133046984 Ataxia - deafness - intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0008838 ataxia - deafness - intellectual disability syndrome skos:exactMatch mesh:C535295 semapv:UnspecifiedMatching MONDO:0008839 ataxia-microcephaly-cataract syndrome skos:exactMatch MEDGEN:167098 semapv:UnspecifiedMatching MONDO:0008839 ataxia-microcephaly-cataract syndrome skos:exactMatch OMIM:208870 ataxia-microcephaly-cataract syndrome semapv:UnspecifiedMatching MONDO:0008839 ataxia-microcephaly-cataract syndrome skos:exactMatch UMLS:C0796056 semapv:UnspecifiedMatching MONDO:0008839 ataxia-microcephaly-cataract syndrome skos:exactMatch mesh:C563086 semapv:UnspecifiedMatching MONDO:0008840 ataxia telangiectasia skos:exactMatch DOID:12704 ataxia telangiectasia semapv:UnspecifiedMatching MONDO:0008840 ataxia telangiectasia skos:exactMatch MEDGEN:439 semapv:UnspecifiedMatching MONDO:0008840 ataxia telangiectasia skos:exactMatch NCIT:C2887 Ataxia Telangiectasia Syndrome semapv:UnspecifiedMatching MONDO:0008840 ataxia telangiectasia skos:exactMatch OMIM:208900 ataxia-telangiectasia semapv:UnspecifiedMatching MONDO:0008840 ataxia telangiectasia skos:exactMatch Orphanet:100 Ataxia-telangiectasia semapv:UnspecifiedMatching MONDO:0008840 ataxia telangiectasia skos:exactMatch SCTID:68504005 semapv:UnspecifiedMatching MONDO:0008840 ataxia telangiectasia skos:exactMatch UMLS:C0004135 semapv:UnspecifiedMatching MONDO:0008840 ataxia telangiectasia skos:exactMatch mesh:D001260 semapv:UnspecifiedMatching MONDO:0008841 ataxia-telangiectasia with generalized skin pigmentation and early death skos:exactMatch MEDGEN:395306 semapv:UnspecifiedMatching MONDO:0008841 ataxia-telangiectasia with generalized skin pigmentation and early death skos:exactMatch OMIM:208910 ataxia-telangiectasia with generalized skin pigmentation and early death semapv:UnspecifiedMatching MONDO:0008841 ataxia-telangiectasia with generalized skin pigmentation and early death skos:exactMatch UMLS:C1859615 semapv:UnspecifiedMatching MONDO:0008841 ataxia-telangiectasia with generalized skin pigmentation and early death skos:exactMatch mesh:C565930 semapv:UnspecifiedMatching MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia skos:exactMatch DOID:0050754 early-onset ataxia with oculomotor apraxia and hypoalbuminemia semapv:UnspecifiedMatching MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia skos:exactMatch MEDGEN:395301 semapv:UnspecifiedMatching MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia skos:exactMatch OMIM:208920 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia semapv:UnspecifiedMatching MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia skos:exactMatch Orphanet:1168 Ataxia-oculomotor apraxia type 1 semapv:UnspecifiedMatching MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia skos:exactMatch UMLS:C1859598 semapv:UnspecifiedMatching MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia skos:exactMatch mesh:C538013 semapv:UnspecifiedMatching MONDO:0008843 atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome skos:exactMatch MEDGEN:349198 semapv:UnspecifiedMatching MONDO:0008843 atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome skos:exactMatch OMIM:209010 atherosclerosis, premature, with deafness, nephropathy, diabetes mellitus, photomyoclonus, and degenerative neurologic disease semapv:UnspecifiedMatching MONDO:0008843 atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome skos:exactMatch Orphanet:1192 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome semapv:UnspecifiedMatching MONDO:0008843 atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome skos:exactMatch SCTID:720519003 semapv:UnspecifiedMatching MONDO:0008843 atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome skos:exactMatch UMLS:C1859596 semapv:UnspecifiedMatching MONDO:0008843 atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome skos:exactMatch mesh:C565928 semapv:UnspecifiedMatching MONDO:0008844 Athrombia, essential skos:exactMatch MEDGEN:349197 semapv:UnspecifiedMatching MONDO:0008844 Athrombia, essential skos:exactMatch OMIM:209050 athrombia, essential semapv:UnspecifiedMatching MONDO:0008844 Athrombia, essential skos:exactMatch UMLS:C1859595 semapv:UnspecifiedMatching MONDO:0008844 Athrombia, essential skos:exactMatch mesh:C565927 semapv:UnspecifiedMatching MONDO:0008845 atonic-astatic syndrome of Foerster skos:exactMatch MEDGEN:395300 semapv:UnspecifiedMatching MONDO:0008845 atonic-astatic syndrome of Foerster skos:exactMatch OMIM:209100 atonic-astatic syndrome of foerster semapv:UnspecifiedMatching MONDO:0008845 atonic-astatic syndrome of Foerster skos:exactMatch UMLS:C1859594 semapv:UnspecifiedMatching MONDO:0008845 atonic-astatic syndrome of Foerster skos:exactMatch mesh:C565926 semapv:UnspecifiedMatching MONDO:0008846 atransferrinemia skos:exactMatch DOID:0050649 atransferrinemia semapv:UnspecifiedMatching MONDO:0008846 atransferrinemia skos:exactMatch MEDGEN:105489 semapv:UnspecifiedMatching MONDO:0008846 atransferrinemia skos:exactMatch NCIT:C125693 Atransferrinemia semapv:UnspecifiedMatching MONDO:0008846 atransferrinemia skos:exactMatch OMIM:209300 atransferrinemia semapv:UnspecifiedMatching MONDO:0008846 atransferrinemia skos:exactMatch Orphanet:1195 Congenital atransferrinemia semapv:UnspecifiedMatching MONDO:0008846 atransferrinemia skos:exactMatch SCTID:111571009 semapv:UnspecifiedMatching MONDO:0008846 atransferrinemia skos:exactMatch UMLS:C0521802 semapv:UnspecifiedMatching MONDO:0008846 atransferrinemia skos:exactMatch mesh:C538259 semapv:UnspecifiedMatching MONDO:0008847 atrichia with papular lesions skos:exactMatch DOID:0060689 atrichia with papular lesions semapv:UnspecifiedMatching MONDO:0008847 atrichia with papular lesions skos:exactMatch MEDGEN:395299 semapv:UnspecifiedMatching MONDO:0008847 atrichia with papular lesions skos:exactMatch OMIM:209500 atrichia with papular lesions semapv:UnspecifiedMatching MONDO:0008847 atrichia with papular lesions skos:exactMatch Orphanet:86819 Atrichia with papular lesions semapv:UnspecifiedMatching MONDO:0008847 atrichia with papular lesions skos:exactMatch SCTID:715963002 semapv:UnspecifiedMatching MONDO:0008847 atrichia with papular lesions skos:exactMatch UMLS:C1859592 semapv:UnspecifiedMatching MONDO:0008847 atrichia with papular lesions skos:exactMatch mesh:C565924 semapv:UnspecifiedMatching MONDO:0008848 atrioventricular dissociation skos:exactMatch MEDGEN:2496 semapv:UnspecifiedMatching MONDO:0008848 atrioventricular dissociation skos:exactMatch OMIM:209600 atrioventricular dissociation semapv:UnspecifiedMatching MONDO:0008848 atrioventricular dissociation skos:exactMatch SCTID:50799005 semapv:UnspecifiedMatching MONDO:0008848 atrioventricular dissociation skos:exactMatch UMLS:C0004331 semapv:UnspecifiedMatching MONDO:0008848 atrioventricular dissociation skos:exactMatch icd11.foundation:268503599 Atrioventricular dissociation semapv:UnspecifiedMatching MONDO:0008848 atrioventricular dissociation skos:exactMatch mesh:D006327 semapv:UnspecifiedMatching MONDO:0008849 atrophoderma vermiculata skos:exactMatch DOID:0080756 atrophoderma vermiculata semapv:UnspecifiedMatching MONDO:0008849 atrophoderma vermiculata skos:exactMatch MEDGEN:82666 semapv:UnspecifiedMatching MONDO:0008849 atrophoderma vermiculata skos:exactMatch OMIM:209700 atrophoderma vermiculata semapv:UnspecifiedMatching MONDO:0008849 atrophoderma vermiculata skos:exactMatch Orphanet:79100 Atrophoderma vermiculata semapv:UnspecifiedMatching MONDO:0008849 atrophoderma vermiculata skos:exactMatch SCTID:2736005 semapv:UnspecifiedMatching MONDO:0008849 atrophoderma vermiculata skos:exactMatch UMLS:C0263429 semapv:UnspecifiedMatching MONDO:0008850 Cooper-Jabs syndrome skos:exactMatch MEDGEN:347912 semapv:UnspecifiedMatching MONDO:0008850 Cooper-Jabs syndrome skos:exactMatch OMIM:209770 aural atresia, multiple congenital anomalies, and impaired intellectual development semapv:UnspecifiedMatching MONDO:0008850 Cooper-Jabs syndrome skos:exactMatch Orphanet:1488 Cooper-Jabs syndrome semapv:UnspecifiedMatching MONDO:0008850 Cooper-Jabs syndrome skos:exactMatch SCTID:720748007 semapv:UnspecifiedMatching MONDO:0008850 Cooper-Jabs syndrome skos:exactMatch UMLS:C1859591 semapv:UnspecifiedMatching MONDO:0008850 Cooper-Jabs syndrome skos:exactMatch mesh:C565923 semapv:UnspecifiedMatching MONDO:0008853 Barber-Say syndrome skos:exactMatch DOID:0060549 Barber-Say syndrome semapv:UnspecifiedMatching MONDO:0008853 Barber-Say syndrome skos:exactMatch MEDGEN:230818 semapv:UnspecifiedMatching MONDO:0008853 Barber-Say syndrome skos:exactMatch OMIM:209885 barber-say syndrome semapv:UnspecifiedMatching MONDO:0008853 Barber-Say syndrome skos:exactMatch Orphanet:1231 Barber-Say syndrome semapv:UnspecifiedMatching MONDO:0008853 Barber-Say syndrome skos:exactMatch SCTID:408537003 semapv:UnspecifiedMatching MONDO:0008853 Barber-Say syndrome skos:exactMatch UMLS:C1319466 semapv:UnspecifiedMatching MONDO:0008853 Barber-Say syndrome skos:exactMatch icd11.foundation:37248895 Barber-Say syndrome semapv:UnspecifiedMatching MONDO:0008853 Barber-Say syndrome skos:exactMatch mesh:C537908 semapv:UnspecifiedMatching MONDO:0008854 Bardet-Biedl syndrome 1 skos:exactMatch DOID:0110123 Bardet-Biedl syndrome 1 semapv:UnspecifiedMatching MONDO:0008854 Bardet-Biedl syndrome 1 skos:exactMatch MEDGEN:422452 semapv:UnspecifiedMatching MONDO:0008854 Bardet-Biedl syndrome 1 skos:exactMatch OMIM:209900 bardet-biedl syndrome 1 semapv:UnspecifiedMatching MONDO:0008854 Bardet-Biedl syndrome 1 skos:exactMatch UMLS:C2936862 semapv:UnspecifiedMatching MONDO:0008854 Bardet-Biedl syndrome 1 skos:exactMatch mesh:C537909 semapv:UnspecifiedMatching MONDO:0008855 MHC class II deficiency skos:exactMatch DOID:5812 MHC class II deficiency semapv:UnspecifiedMatching MONDO:0008855 MHC class II deficiency skos:exactMatch MEDGEN:1781237 semapv:UnspecifiedMatching MONDO:0008855 MHC class II deficiency skos:exactMatch NCIT:C176823 MHC Class II Deficiency semapv:UnspecifiedMatching MONDO:0008855 MHC class II deficiency skos:exactMatch NCIT:C3895 Bare Lymphocyte Syndrome semapv:UnspecifiedMatching MONDO:0008855 MHC class II deficiency skos:exactMatch OMIMPS:209920 MHC class II deficiency semapv:UnspecifiedMatching MONDO:0008855 MHC class II deficiency skos:exactMatch Orphanet:572 Immunodeficiency by defective expression of MHC class II semapv:UnspecifiedMatching MONDO:0008855 MHC class II deficiency skos:exactMatch SCTID:71904008 semapv:UnspecifiedMatching MONDO:0008855 MHC class II deficiency skos:exactMatch UMLS:C5447452 semapv:UnspecifiedMatching MONDO:0008855 MHC class II deficiency skos:exactMatch icd11.foundation:2021339495 Major histocompatibility complex class II deficiency semapv:UnspecifiedMatching MONDO:0008855 MHC class II deficiency skos:exactMatch mesh:C537079 semapv:UnspecifiedMatching MONDO:0008856 immunodeficiency 27A skos:exactMatch DOID:0111955 immunodeficiency 27A semapv:UnspecifiedMatching MONDO:0008856 immunodeficiency 27A skos:exactMatch MEDGEN:860386 semapv:UnspecifiedMatching MONDO:0008856 immunodeficiency 27A skos:exactMatch NCIT:C176806 Immunodeficiency 27A semapv:UnspecifiedMatching MONDO:0008856 immunodeficiency 27A skos:exactMatch OMIM:209950 immunodeficiency 27a semapv:UnspecifiedMatching MONDO:0008856 immunodeficiency 27A skos:exactMatch UMLS:C4011949 semapv:UnspecifiedMatching MONDO:0008857 Beemer-Ertbruggen syndrome skos:exactMatch MEDGEN:347174 semapv:UnspecifiedMatching MONDO:0008857 Beemer-Ertbruggen syndrome skos:exactMatch OMIM:209970 beemer lethal malformation syndrome semapv:UnspecifiedMatching MONDO:0008857 Beemer-Ertbruggen syndrome skos:exactMatch Orphanet:1237 Beemer-Ertbruggen syndrome semapv:UnspecifiedMatching MONDO:0008857 Beemer-Ertbruggen syndrome skos:exactMatch SCTID:717859007 semapv:UnspecifiedMatching MONDO:0008857 Beemer-Ertbruggen syndrome skos:exactMatch UMLS:C1859526 semapv:UnspecifiedMatching MONDO:0008857 Beemer-Ertbruggen syndrome skos:exactMatch mesh:C537668 semapv:UnspecifiedMatching MONDO:0008858 Behr syndrome skos:exactMatch DOID:0111580 Behr syndrome semapv:UnspecifiedMatching MONDO:0008858 Behr syndrome skos:exactMatch MEDGEN:66358 semapv:UnspecifiedMatching MONDO:0008858 Behr syndrome skos:exactMatch NCIT:C177251 Behr Syndrome semapv:UnspecifiedMatching MONDO:0008858 Behr syndrome skos:exactMatch OMIM:210000 behr syndrome semapv:UnspecifiedMatching MONDO:0008858 Behr syndrome skos:exactMatch Orphanet:1239 Behr syndrome semapv:UnspecifiedMatching MONDO:0008858 Behr syndrome skos:exactMatch SCTID:718221007 semapv:UnspecifiedMatching MONDO:0008858 Behr syndrome skos:exactMatch UMLS:C0221061 semapv:UnspecifiedMatching MONDO:0008858 Behr syndrome skos:exactMatch mesh:C537669 semapv:UnspecifiedMatching MONDO:0008859 berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification skos:exactMatch MEDGEN:347170 semapv:UnspecifiedMatching MONDO:0008859 berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification skos:exactMatch OMIM:210050 berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification semapv:UnspecifiedMatching MONDO:0008859 berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification skos:exactMatch UMLS:C1859519 semapv:UnspecifiedMatching MONDO:0008859 berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification skos:exactMatch mesh:C565905 semapv:UnspecifiedMatching MONDO:0008860 beta-aminoisobutyric acid, urinary excretion of skos:exactMatch MEDGEN:347169 semapv:UnspecifiedMatching MONDO:0008860 beta-aminoisobutyric acid, urinary excretion of skos:exactMatch OMIM:210100 beta-aminoisobutyric aciduria semapv:UnspecifiedMatching MONDO:0008860 beta-aminoisobutyric acid, urinary excretion of skos:exactMatch UMLS:C1859518 semapv:UnspecifiedMatching MONDO:0008860 beta-aminoisobutyric acid, urinary excretion of skos:exactMatch mesh:C565904 semapv:UnspecifiedMatching MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency skos:exactMatch DOID:0080579 3-methylcrotonyl-CoA carboxylase 1 deficiency semapv:UnspecifiedMatching MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency skos:exactMatch OMIM:210200 3-methylcrotonyl-coa carboxylase 1 deficiency semapv:UnspecifiedMatching MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency skos:exactMatch mesh:C535308 semapv:UnspecifiedMatching MONDO:0008862 3-methylcrotonyl-CoA carboxylase 2 deficiency skos:exactMatch DOID:0080580 3-methylcrotonyl-CoA carboxylase 2 deficiency semapv:UnspecifiedMatching MONDO:0008862 3-methylcrotonyl-CoA carboxylase 2 deficiency skos:exactMatch MEDGEN:347898 semapv:UnspecifiedMatching MONDO:0008862 3-methylcrotonyl-CoA carboxylase 2 deficiency skos:exactMatch OMIM:210210 3-methylcrotonyl-coa carboxylase 2 deficiency semapv:UnspecifiedMatching MONDO:0008862 3-methylcrotonyl-CoA carboxylase 2 deficiency skos:exactMatch UMLS:C1859499 semapv:UnspecifiedMatching MONDO:0008862 3-methylcrotonyl-CoA carboxylase 2 deficiency skos:exactMatch mesh:C535309 semapv:UnspecifiedMatching MONDO:0008863 sitosterolemia skos:exactMatch DOID:0090019 sitosterolemia semapv:UnspecifiedMatching MONDO:0008863 sitosterolemia skos:exactMatch MEDGEN:87466 semapv:UnspecifiedMatching MONDO:0008863 sitosterolemia skos:exactMatch NCIT:C125694 Sitosterolemia semapv:UnspecifiedMatching MONDO:0008863 sitosterolemia skos:exactMatch OMIMPS:210250 Sitosterolemia semapv:UnspecifiedMatching MONDO:0008863 sitosterolemia skos:exactMatch Orphanet:2882 Sitosterolemia semapv:UnspecifiedMatching MONDO:0008863 sitosterolemia skos:exactMatch SCTID:238104009 semapv:UnspecifiedMatching MONDO:0008863 sitosterolemia skos:exactMatch UMLS:C0342907 semapv:UnspecifiedMatching MONDO:0008863 sitosterolemia skos:exactMatch mesh:C537345 semapv:UnspecifiedMatching MONDO:0008864 Biemond syndrome type 2 skos:exactMatch MEDGEN:347159 semapv:UnspecifiedMatching MONDO:0008864 Biemond syndrome type 2 skos:exactMatch OMIM:210350 biemond syndrome 2 semapv:UnspecifiedMatching MONDO:0008864 Biemond syndrome type 2 skos:exactMatch Orphanet:141333 Biemond syndrome type 2 semapv:UnspecifiedMatching MONDO:0008864 Biemond syndrome type 2 skos:exactMatch SCTID:717887003 semapv:UnspecifiedMatching MONDO:0008864 Biemond syndrome type 2 skos:exactMatch UMLS:C1859487 semapv:UnspecifiedMatching MONDO:0008864 Biemond syndrome type 2 skos:exactMatch mesh:C565902 semapv:UnspecifiedMatching MONDO:0008865 Bietti crystalline corneoretinal dystrophy skos:exactMatch DOID:0050664 Bietti crystalline corneoretinal dystrophy semapv:UnspecifiedMatching MONDO:0008865 Bietti crystalline corneoretinal dystrophy skos:exactMatch MEDGEN:347895 semapv:UnspecifiedMatching MONDO:0008865 Bietti crystalline corneoretinal dystrophy skos:exactMatch NCIT:C179299 Bietti Crystalline Corneoretinal Dystrophy semapv:UnspecifiedMatching MONDO:0008865 Bietti crystalline corneoretinal dystrophy skos:exactMatch OMIM:210370 bietti crystalline corneoretinal dystrophy semapv:UnspecifiedMatching MONDO:0008865 Bietti crystalline corneoretinal dystrophy skos:exactMatch Orphanet:41751 Bietti crystalline dystrophy semapv:UnspecifiedMatching MONDO:0008865 Bietti crystalline corneoretinal dystrophy skos:exactMatch SCTID:312927001 semapv:UnspecifiedMatching MONDO:0008865 Bietti crystalline corneoretinal dystrophy skos:exactMatch UMLS:C1859486 semapv:UnspecifiedMatching MONDO:0008865 Bietti crystalline corneoretinal dystrophy skos:exactMatch mesh:C535440 semapv:UnspecifiedMatching MONDO:0008866 bifid nose, autosomal recessive skos:exactMatch MEDGEN:854359 semapv:UnspecifiedMatching MONDO:0008866 bifid nose, autosomal recessive skos:exactMatch OMIM:210400 bifid nose, autosomal recessive semapv:UnspecifiedMatching MONDO:0008866 bifid nose, autosomal recessive skos:exactMatch UMLS:C3887497 semapv:UnspecifiedMatching MONDO:0008867 biliary atresia skos:exactMatch DOID:13608 biliary atresia semapv:UnspecifiedMatching MONDO:0008867 biliary atresia skos:exactMatch ICD10CM:Q44.2 Atresia of bile ducts semapv:UnspecifiedMatching MONDO:0008867 biliary atresia skos:exactMatch MEDGEN:14117 semapv:UnspecifiedMatching MONDO:0008867 biliary atresia skos:exactMatch NCIT:C34421 Biliary Atresia semapv:UnspecifiedMatching MONDO:0008867 biliary atresia skos:exactMatch Orphanet:30391 Isolated biliary atresia semapv:UnspecifiedMatching MONDO:0008867 biliary atresia skos:exactMatch SCTID:77480004 semapv:UnspecifiedMatching MONDO:0008867 biliary atresia skos:exactMatch UMLS:C0005411 semapv:UnspecifiedMatching MONDO:0008867 biliary atresia skos:exactMatch icd11.foundation:645741117 Biliary atresia semapv:UnspecifiedMatching MONDO:0008867 biliary atresia skos:exactMatch mesh:D001656 semapv:UnspecifiedMatching MONDO:0008868 biliary malformation with renal tubular insufficiency skos:exactMatch MEDGEN:98009 semapv:UnspecifiedMatching MONDO:0008868 biliary malformation with renal tubular insufficiency skos:exactMatch SCTID:235914003 semapv:UnspecifiedMatching MONDO:0008868 biliary malformation with renal tubular insufficiency skos:exactMatch UMLS:C0400972 semapv:UnspecifiedMatching MONDO:0008868 biliary malformation with renal tubular insufficiency skos:exactMatch mesh:C537726 semapv:UnspecifiedMatching MONDO:0008869 Seckel syndrome 1 skos:exactMatch DOID:0070007 Seckel syndrome 1 semapv:UnspecifiedMatching MONDO:0008869 Seckel syndrome 1 skos:exactMatch MEDGEN:1637056 semapv:UnspecifiedMatching MONDO:0008869 Seckel syndrome 1 skos:exactMatch OMIM:210600 seckel syndrome 1 semapv:UnspecifiedMatching MONDO:0008869 Seckel syndrome 1 skos:exactMatch UMLS:C4551474 semapv:UnspecifiedMatching MONDO:0008870 bird headed-dwarfism, Montreal type skos:exactMatch MEDGEN:347890 semapv:UnspecifiedMatching MONDO:0008870 bird headed-dwarfism, Montreal type skos:exactMatch OMIM:210700 microcephalic primordial dwarfism, montreal type semapv:UnspecifiedMatching MONDO:0008870 bird headed-dwarfism, Montreal type skos:exactMatch Orphanet:2617 Microcephalic primordial dwarfism, Montreal type semapv:UnspecifiedMatching MONDO:0008870 bird headed-dwarfism, Montreal type skos:exactMatch UMLS:C1859468 semapv:UnspecifiedMatching MONDO:0008870 bird headed-dwarfism, Montreal type skos:exactMatch mesh:C535448 semapv:UnspecifiedMatching MONDO:0008871 microcephalic osteodysplastic primordial dwarfism type I skos:exactMatch DOID:0060608 microcephalic osteodysplastic primordial dwarfism type I semapv:UnspecifiedMatching MONDO:0008871 microcephalic osteodysplastic primordial dwarfism type I skos:exactMatch MEDGEN:347149 semapv:UnspecifiedMatching MONDO:0008871 microcephalic osteodysplastic primordial dwarfism type I skos:exactMatch OMIM:210710 microcephalic osteodysplastic primordial dwarfism, type 1 semapv:UnspecifiedMatching MONDO:0008871 microcephalic osteodysplastic primordial dwarfism type I skos:exactMatch SCTID:254102008 semapv:UnspecifiedMatching MONDO:0008871 microcephalic osteodysplastic primordial dwarfism type I skos:exactMatch UMLS:C1859452 semapv:UnspecifiedMatching MONDO:0008872 microcephalic osteodysplastic primordial dwarfism type II skos:exactMatch DOID:0060609 microcephalic osteodysplastic primordial dwarfism type II semapv:UnspecifiedMatching MONDO:0008872 microcephalic osteodysplastic primordial dwarfism type II skos:exactMatch MEDGEN:96587 semapv:UnspecifiedMatching MONDO:0008872 microcephalic osteodysplastic primordial dwarfism type II skos:exactMatch OMIM:210720 microcephalic osteodysplastic primordial dwarfism, type 2 semapv:UnspecifiedMatching MONDO:0008872 microcephalic osteodysplastic primordial dwarfism type II skos:exactMatch Orphanet:2637 Microcephalic osteodysplastic primordial dwarfism type II semapv:UnspecifiedMatching MONDO:0008872 microcephalic osteodysplastic primordial dwarfism type II skos:exactMatch SCTID:254103003 semapv:UnspecifiedMatching MONDO:0008872 microcephalic osteodysplastic primordial dwarfism type II skos:exactMatch UMLS:C0432246 semapv:UnspecifiedMatching MONDO:0008872 microcephalic osteodysplastic primordial dwarfism type II skos:exactMatch mesh:C565898 semapv:UnspecifiedMatching MONDO:0008873 microcephalic osteodysplastic primordial dwarfism, type 3 skos:exactMatch MEDGEN:349167 semapv:UnspecifiedMatching MONDO:0008873 microcephalic osteodysplastic primordial dwarfism, type 3 skos:exactMatch UMLS:C1859439 semapv:UnspecifiedMatching MONDO:0008873 microcephalic osteodysplastic primordial dwarfism, type 3 skos:exactMatch mesh:C537320 semapv:UnspecifiedMatching MONDO:0008874 Bangstad syndrome skos:exactMatch MEDGEN:90978 semapv:UnspecifiedMatching MONDO:0008874 Bangstad syndrome skos:exactMatch OMIM:210740 bangstad syndrome semapv:UnspecifiedMatching MONDO:0008874 Bangstad syndrome skos:exactMatch Orphanet:1227 Bangstad syndrome semapv:UnspecifiedMatching MONDO:0008874 Bangstad syndrome skos:exactMatch SCTID:237614004 semapv:UnspecifiedMatching MONDO:0008874 Bangstad syndrome skos:exactMatch UMLS:C0342284 semapv:UnspecifiedMatching MONDO:0008874 Bangstad syndrome skos:exactMatch mesh:C537902 semapv:UnspecifiedMatching MONDO:0008875 blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome skos:exactMatch MEDGEN:347880 semapv:UnspecifiedMatching MONDO:0008875 blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome skos:exactMatch OMIM:210745 blepharophimosis with ptosis, syndactyly, and short stature semapv:UnspecifiedMatching MONDO:0008875 blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome skos:exactMatch Orphanet:2057 Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome semapv:UnspecifiedMatching MONDO:0008875 blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome skos:exactMatch SCTID:717914000 semapv:UnspecifiedMatching MONDO:0008875 blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome skos:exactMatch UMLS:C1859432 semapv:UnspecifiedMatching MONDO:0008875 blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome skos:exactMatch mesh:C536235 semapv:UnspecifiedMatching MONDO:0008876 Bloom syndrome skos:exactMatch DOID:2717 Bloom syndrome semapv:UnspecifiedMatching MONDO:0008876 Bloom syndrome skos:exactMatch MEDGEN:2685 semapv:UnspecifiedMatching MONDO:0008876 Bloom syndrome skos:exactMatch NCIT:C2903 Bloom Syndrome semapv:UnspecifiedMatching MONDO:0008876 Bloom syndrome skos:exactMatch OMIM:210900 bloom syndrome semapv:UnspecifiedMatching MONDO:0008876 Bloom syndrome skos:exactMatch Orphanet:125 Bloom syndrome semapv:UnspecifiedMatching MONDO:0008876 Bloom syndrome skos:exactMatch SCTID:4434006 semapv:UnspecifiedMatching MONDO:0008876 Bloom syndrome skos:exactMatch UMLS:C0005859 semapv:UnspecifiedMatching MONDO:0008876 Bloom syndrome skos:exactMatch icd11.foundation:1838213890 Bloom syndrome semapv:UnspecifiedMatching MONDO:0008876 Bloom syndrome skos:exactMatch mesh:D001816 semapv:UnspecifiedMatching MONDO:0008877 blue diaper syndrome skos:exactMatch MEDGEN:75685 semapv:UnspecifiedMatching MONDO:0008877 blue diaper syndrome skos:exactMatch OMIM:211000 blue diaper syndrome semapv:UnspecifiedMatching MONDO:0008877 blue diaper syndrome skos:exactMatch Orphanet:94086 Blue diaper syndrome semapv:UnspecifiedMatching MONDO:0008877 blue diaper syndrome skos:exactMatch SCTID:59531002 semapv:UnspecifiedMatching MONDO:0008877 blue diaper syndrome skos:exactMatch UMLS:C0268478 semapv:UnspecifiedMatching MONDO:0008877 blue diaper syndrome skos:exactMatch icd11.foundation:292681007 Blue diaper syndrome semapv:UnspecifiedMatching MONDO:0008877 blue diaper syndrome skos:exactMatch mesh:C536239 semapv:UnspecifiedMatching MONDO:0008878 bone dysplasia, lethal Holmgren type skos:exactMatch MEDGEN:347872 semapv:UnspecifiedMatching MONDO:0008878 bone dysplasia, lethal Holmgren type skos:exactMatch OMIM:211120 bone dysplasia, lethal, holmgren type semapv:UnspecifiedMatching MONDO:0008878 bone dysplasia, lethal Holmgren type skos:exactMatch Orphanet:1842 Bone dysplasia, lethal Holmgren type semapv:UnspecifiedMatching MONDO:0008878 bone dysplasia, lethal Holmgren type skos:exactMatch SCTID:732249002 semapv:UnspecifiedMatching MONDO:0008878 bone dysplasia, lethal Holmgren type skos:exactMatch UMLS:C1859407 semapv:UnspecifiedMatching MONDO:0008878 bone dysplasia, lethal Holmgren type skos:exactMatch mesh:C565896 semapv:UnspecifiedMatching MONDO:0008879 Bowen-Conradi syndrome skos:exactMatch DOID:0050684 Bowen-Conradi syndrome semapv:UnspecifiedMatching MONDO:0008879 Bowen-Conradi syndrome skos:exactMatch MEDGEN:349160 semapv:UnspecifiedMatching MONDO:0008879 Bowen-Conradi syndrome skos:exactMatch OMIM:211180 bowen-conradi syndrome semapv:UnspecifiedMatching MONDO:0008879 Bowen-Conradi syndrome skos:exactMatch Orphanet:1270 Bowen-Conradi syndrome semapv:UnspecifiedMatching MONDO:0008879 Bowen-Conradi syndrome skos:exactMatch SCTID:711153001 semapv:UnspecifiedMatching MONDO:0008879 Bowen-Conradi syndrome skos:exactMatch UMLS:C1859405 semapv:UnspecifiedMatching MONDO:0008879 Bowen-Conradi syndrome skos:exactMatch icd11.foundation:1713786719 Bowen-Conradi syndrome semapv:UnspecifiedMatching MONDO:0008879 Bowen-Conradi syndrome skos:exactMatch mesh:C537081 semapv:UnspecifiedMatching MONDO:0008880 Bowen syndrome of multiple malformations skos:exactMatch MEDGEN:349159 semapv:UnspecifiedMatching MONDO:0008880 Bowen syndrome of multiple malformations skos:exactMatch OMIM:211200 bowen syndrome of multiple malformations semapv:UnspecifiedMatching MONDO:0008880 Bowen syndrome of multiple malformations skos:exactMatch UMLS:C1859404 semapv:UnspecifiedMatching MONDO:0008880 Bowen syndrome of multiple malformations skos:exactMatch mesh:C538164 semapv:UnspecifiedMatching MONDO:0008881 kyphomelic dysplasia skos:exactMatch DOID:0061155 kyphomelic dysplasia semapv:UnspecifiedMatching MONDO:0008881 kyphomelic dysplasia skos:exactMatch MEDGEN:140930 semapv:UnspecifiedMatching MONDO:0008881 kyphomelic dysplasia skos:exactMatch OMIM:211350 kyphomelic dysplasia semapv:UnspecifiedMatching MONDO:0008881 kyphomelic dysplasia skos:exactMatch Orphanet:1801 Kyphomelic dysplasia semapv:UnspecifiedMatching MONDO:0008881 kyphomelic dysplasia skos:exactMatch SCTID:254096001 semapv:UnspecifiedMatching MONDO:0008881 kyphomelic dysplasia skos:exactMatch UMLS:C0432239 semapv:UnspecifiedMatching MONDO:0008881 kyphomelic dysplasia skos:exactMatch icd11.foundation:268821879 Kyphomelic dysplasia semapv:UnspecifiedMatching MONDO:0008881 kyphomelic dysplasia skos:exactMatch mesh:C538128 semapv:UnspecifiedMatching MONDO:0008882 congenital bowing of long bones skos:exactMatch MEDGEN:395251 semapv:UnspecifiedMatching MONDO:0008882 congenital bowing of long bones skos:exactMatch OMIM:211355 bowing of long bones, asymmetric and symmetric semapv:UnspecifiedMatching MONDO:0008882 congenital bowing of long bones skos:exactMatch SCTID:716098006 semapv:UnspecifiedMatching MONDO:0008882 congenital bowing of long bones skos:exactMatch UMLS:C1859394 semapv:UnspecifiedMatching MONDO:0008882 congenital bowing of long bones skos:exactMatch icd11.foundation:1261565213 Congenital bowing of long bones semapv:UnspecifiedMatching MONDO:0008883 brachydactyly, type A2, with microcephaly skos:exactMatch MEDGEN:395250 semapv:UnspecifiedMatching MONDO:0008883 brachydactyly, type A2, with microcephaly skos:exactMatch OMIM:211369 brachydactyly, type a2, with microcephaly semapv:UnspecifiedMatching MONDO:0008883 brachydactyly, type A2, with microcephaly skos:exactMatch UMLS:C1859393 semapv:UnspecifiedMatching MONDO:0008883 brachydactyly, type A2, with microcephaly skos:exactMatch mesh:C565894 semapv:UnspecifiedMatching MONDO:0008884 oculoosteocutaneous syndrome skos:exactMatch MEDGEN:347867 semapv:UnspecifiedMatching MONDO:0008884 oculoosteocutaneous syndrome skos:exactMatch OMIM:211370 brachymetapody-anodontia-hypotrichosis-albinoidism semapv:UnspecifiedMatching MONDO:0008884 oculoosteocutaneous syndrome skos:exactMatch Orphanet:2713 Oculoosteocutaneous syndrome semapv:UnspecifiedMatching MONDO:0008884 oculoosteocutaneous syndrome skos:exactMatch SCTID:722061006 semapv:UnspecifiedMatching MONDO:0008884 oculoosteocutaneous syndrome skos:exactMatch UMLS:C1859385 semapv:UnspecifiedMatching MONDO:0008884 oculoosteocutaneous syndrome skos:exactMatch mesh:C565893 semapv:UnspecifiedMatching MONDO:0008885 Elsahy-Waters syndrome skos:exactMatch DOID:0080631 Elsahy-Waters syndrome semapv:UnspecifiedMatching MONDO:0008885 Elsahy-Waters syndrome skos:exactMatch MEDGEN:923028 semapv:UnspecifiedMatching MONDO:0008885 Elsahy-Waters syndrome skos:exactMatch OMIM:211380 elsahy-waters syndrome semapv:UnspecifiedMatching MONDO:0008885 Elsahy-Waters syndrome skos:exactMatch Orphanet:1299 Branchioskeletogenital syndrome semapv:UnspecifiedMatching MONDO:0008885 Elsahy-Waters syndrome skos:exactMatch SCTID:719097002 semapv:UnspecifiedMatching MONDO:0008885 Elsahy-Waters syndrome skos:exactMatch UMLS:C0809936 semapv:UnspecifiedMatching MONDO:0008885 Elsahy-Waters syndrome skos:exactMatch mesh:C537084 semapv:UnspecifiedMatching MONDO:0008885 Elsahy-Waters syndrome skos:exactMatch mesh:C566373 semapv:UnspecifiedMatching MONDO:0008886 Sabinas brittle hair syndrome skos:exactMatch DOID:0111874 Sabinas brittle hair syndrome semapv:UnspecifiedMatching MONDO:0008886 Sabinas brittle hair syndrome skos:exactMatch MEDGEN:163238 semapv:UnspecifiedMatching MONDO:0008886 Sabinas brittle hair syndrome skos:exactMatch OMIM:211390 sabinas brittle hair syndrome semapv:UnspecifiedMatching MONDO:0008886 Sabinas brittle hair syndrome skos:exactMatch UMLS:C0796271 semapv:UnspecifiedMatching MONDO:0008886 Sabinas brittle hair syndrome skos:exactMatch icd11.foundation:1722502589 Sabinas brittle hair syndrome semapv:UnspecifiedMatching MONDO:0008886 Sabinas brittle hair syndrome skos:exactMatch mesh:C536320 semapv:UnspecifiedMatching MONDO:0008887 bronchiectasis with or without elevated sweat chloride 1 skos:exactMatch DOID:0080526 bronchiectasis 1 semapv:UnspecifiedMatching MONDO:0008887 bronchiectasis with or without elevated sweat chloride 1 skos:exactMatch MEDGEN:440868 semapv:UnspecifiedMatching MONDO:0008887 bronchiectasis with or without elevated sweat chloride 1 skos:exactMatch OMIM:211400 bronchiectasis with or without elevated sweat chloride 1 semapv:UnspecifiedMatching MONDO:0008887 bronchiectasis with or without elevated sweat chloride 1 skos:exactMatch UMLS:C2749757 semapv:UnspecifiedMatching MONDO:0008887 bronchiectasis with or without elevated sweat chloride 1 skos:exactMatch mesh:C567618 semapv:UnspecifiedMatching MONDO:0008888 Williams-Campbell syndrome skos:exactMatch MEDGEN:137939 semapv:UnspecifiedMatching MONDO:0008888 Williams-Campbell syndrome skos:exactMatch OMIM:211450 williams-campbell syndrome semapv:UnspecifiedMatching MONDO:0008888 Williams-Campbell syndrome skos:exactMatch Orphanet:411501 Williams-Campbell syndrome semapv:UnspecifiedMatching MONDO:0008888 Williams-Campbell syndrome skos:exactMatch SCTID:54203008 semapv:UnspecifiedMatching MONDO:0008888 Williams-Campbell syndrome skos:exactMatch UMLS:C0340231 semapv:UnspecifiedMatching MONDO:0008888 Williams-Campbell syndrome skos:exactMatch icd11.foundation:766574679 Williams-Campbell syndrome semapv:UnspecifiedMatching MONDO:0008889 thromboangiitis obliterans skos:exactMatch DOID:12918 thromboangiitis obliterans semapv:UnspecifiedMatching MONDO:0008889 thromboangiitis obliterans skos:exactMatch EFO:1001211 semapv:UnspecifiedMatching MONDO:0008889 thromboangiitis obliterans skos:exactMatch ICD10CM:I73.1 Thromboangiitis obliterans [Buerger's disease] semapv:UnspecifiedMatching MONDO:0008889 thromboangiitis obliterans skos:exactMatch MEDGEN:21531 semapv:UnspecifiedMatching MONDO:0008889 thromboangiitis obliterans skos:exactMatch NCIT:C35070 Buerger Disease semapv:UnspecifiedMatching MONDO:0008889 thromboangiitis obliterans skos:exactMatch OMIM:211480 buerger disease semapv:UnspecifiedMatching MONDO:0008889 thromboangiitis obliterans skos:exactMatch Orphanet:36258 Buerger disease semapv:UnspecifiedMatching MONDO:0008889 thromboangiitis obliterans skos:exactMatch SCTID:52403007 semapv:UnspecifiedMatching MONDO:0008889 thromboangiitis obliterans skos:exactMatch UMLS:C0040021 semapv:UnspecifiedMatching MONDO:0008889 thromboangiitis obliterans skos:exactMatch icd11.foundation:1000683110 Thromboangiitis obliterans semapv:UnspecifiedMatching MONDO:0008889 thromboangiitis obliterans skos:exactMatch mesh:D013919 semapv:UnspecifiedMatching MONDO:0008890 progressive bulbar palsy skos:exactMatch DOID:681 progressive bulbar palsy semapv:UnspecifiedMatching MONDO:0008890 progressive bulbar palsy skos:exactMatch EFO:0003783 semapv:UnspecifiedMatching MONDO:0008890 progressive bulbar palsy skos:exactMatch ICD10CM:G12.22 Progressive bulbar palsy semapv:UnspecifiedMatching MONDO:0008890 progressive bulbar palsy skos:exactMatch MEDGEN:18290 semapv:UnspecifiedMatching MONDO:0008890 progressive bulbar palsy skos:exactMatch NCIT:C85026 Progressive Bulbar Palsy semapv:UnspecifiedMatching MONDO:0008890 progressive bulbar palsy skos:exactMatch SCTID:54304004 semapv:UnspecifiedMatching MONDO:0008890 progressive bulbar palsy skos:exactMatch UMLS:C0030442 semapv:UnspecifiedMatching MONDO:0008890 progressive bulbar palsy skos:exactMatch icd11.foundation:1143049440 Progressive bulbar palsy semapv:UnspecifiedMatching MONDO:0008890 progressive bulbar palsy skos:exactMatch mesh:D010244 semapv:UnspecifiedMatching MONDO:0008891 riboflavin transporter deficiency skos:exactMatch DOID:0050694 Brown-Vialetto-Van Laere syndrome semapv:UnspecifiedMatching MONDO:0008891 riboflavin transporter deficiency skos:exactMatch MEDGEN:1634394 semapv:UnspecifiedMatching MONDO:0008891 riboflavin transporter deficiency skos:exactMatch OMIMPS:211530 Brown-Vialetto-Van Laere syndrome semapv:UnspecifiedMatching MONDO:0008891 riboflavin transporter deficiency skos:exactMatch Orphanet:97229 Riboflavin transporter deficiency semapv:UnspecifiedMatching MONDO:0008891 riboflavin transporter deficiency skos:exactMatch SCTID:699866005 semapv:UnspecifiedMatching MONDO:0008891 riboflavin transporter deficiency skos:exactMatch UMLS:C4551777 semapv:UnspecifiedMatching MONDO:0008891 riboflavin transporter deficiency skos:exactMatch mesh:C537111 semapv:UnspecifiedMatching MONDO:0008892 progressive familial intrahepatic cholestasis type 1 skos:exactMatch DOID:0070226 progressive familial intrahepatic cholestasis 1 semapv:UnspecifiedMatching MONDO:0008892 progressive familial intrahepatic cholestasis type 1 skos:exactMatch MEDGEN:1645830 semapv:UnspecifiedMatching MONDO:0008892 progressive familial intrahepatic cholestasis type 1 skos:exactMatch OMIM:211600 cholestasis, progressive familial intrahepatic, 1 semapv:UnspecifiedMatching MONDO:0008892 progressive familial intrahepatic cholestasis type 1 skos:exactMatch Orphanet:79306 Progressive familial intrahepatic cholestasis type 1 semapv:UnspecifiedMatching MONDO:0008892 progressive familial intrahepatic cholestasis type 1 skos:exactMatch UMLS:C4551898 semapv:UnspecifiedMatching MONDO:0008892 progressive familial intrahepatic cholestasis type 1 skos:exactMatch icd11.foundation:1414850183 Progressive familial intrahepatic cholestasis type 1 semapv:UnspecifiedMatching MONDO:0008893 C syndrome skos:exactMatch DOID:0111581 C syndrome semapv:UnspecifiedMatching MONDO:0008893 C syndrome skos:exactMatch MEDGEN:167105 semapv:UnspecifiedMatching MONDO:0008893 C syndrome skos:exactMatch OMIM:211750 c syndrome semapv:UnspecifiedMatching MONDO:0008893 C syndrome skos:exactMatch Orphanet:1308 C syndrome semapv:UnspecifiedMatching MONDO:0008893 C syndrome skos:exactMatch SCTID:715409005 semapv:UnspecifiedMatching MONDO:0008893 C syndrome skos:exactMatch UMLS:C0796095 semapv:UnspecifiedMatching MONDO:0008893 C syndrome skos:exactMatch icd11.foundation:1482041278 C syndrome semapv:UnspecifiedMatching MONDO:0008893 C syndrome skos:exactMatch mesh:C537418 semapv:UnspecifiedMatching MONDO:0008894 cataract-hypertrichosis-intellectual disability syndrome skos:exactMatch MEDGEN:167117 semapv:UnspecifiedMatching MONDO:0008894 cataract-hypertrichosis-intellectual disability syndrome skos:exactMatch OMIM:211770 cahmr syndrome semapv:UnspecifiedMatching MONDO:0008894 cataract-hypertrichosis-intellectual disability syndrome skos:exactMatch Orphanet:1375 Cataract-hypertrichosis-intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0008894 cataract-hypertrichosis-intellectual disability syndrome skos:exactMatch SCTID:722379001 semapv:UnspecifiedMatching MONDO:0008894 cataract-hypertrichosis-intellectual disability syndrome skos:exactMatch UMLS:C0796282 semapv:UnspecifiedMatching MONDO:0008894 cataract-hypertrichosis-intellectual disability syndrome skos:exactMatch mesh:C537959 semapv:UnspecifiedMatching MONDO:0008895 hereditary arterial and articular multiple calcification syndrome skos:exactMatch DOID:0111582 hereditary arterial and articular multiple calcification syndrome semapv:UnspecifiedMatching MONDO:0008895 hereditary arterial and articular multiple calcification syndrome skos:exactMatch MEDGEN:347132 semapv:UnspecifiedMatching MONDO:0008895 hereditary arterial and articular multiple calcification syndrome skos:exactMatch OMIM:211800 calcification of joints and arteries semapv:UnspecifiedMatching MONDO:0008895 hereditary arterial and articular multiple calcification syndrome skos:exactMatch Orphanet:289601 Hereditary arterial and articular multiple calcification syndrome semapv:UnspecifiedMatching MONDO:0008895 hereditary arterial and articular multiple calcification syndrome skos:exactMatch SCTID:718602007 semapv:UnspecifiedMatching MONDO:0008895 hereditary arterial and articular multiple calcification syndrome skos:exactMatch UMLS:C1859372 semapv:UnspecifiedMatching MONDO:0008895 hereditary arterial and articular multiple calcification syndrome skos:exactMatch mesh:C565891 semapv:UnspecifiedMatching MONDO:0008896 campomelia, Cumming type skos:exactMatch MEDGEN:347864 semapv:UnspecifiedMatching MONDO:0008896 campomelia, Cumming type skos:exactMatch OMIM:211890 campomelia, cumming type semapv:UnspecifiedMatching MONDO:0008896 campomelia, Cumming type skos:exactMatch Orphanet:1318 Campomelia, Cumming type semapv:UnspecifiedMatching MONDO:0008896 campomelia, Cumming type skos:exactMatch SCTID:720599002 semapv:UnspecifiedMatching MONDO:0008896 campomelia, Cumming type skos:exactMatch UMLS:C1859371 semapv:UnspecifiedMatching MONDO:0008896 campomelia, Cumming type skos:exactMatch icd11.foundation:152223075 Campomelia, Cumming type semapv:UnspecifiedMatching MONDO:0008896 campomelia, Cumming type skos:exactMatch mesh:C537966 semapv:UnspecifiedMatching MONDO:0008898 camptodactyly syndrome, Guadalajara type 1 skos:exactMatch MEDGEN:395241 semapv:UnspecifiedMatching MONDO:0008898 camptodactyly syndrome, Guadalajara type 1 skos:exactMatch OMIM:211910 camptodactyly syndrome, guadalajara, type 1 semapv:UnspecifiedMatching MONDO:0008898 camptodactyly syndrome, Guadalajara type 1 skos:exactMatch Orphanet:1327 Camptodactyly syndrome, Guadalajara type 1 semapv:UnspecifiedMatching MONDO:0008898 camptodactyly syndrome, Guadalajara type 1 skos:exactMatch SCTID:720602007 semapv:UnspecifiedMatching MONDO:0008898 camptodactyly syndrome, Guadalajara type 1 skos:exactMatch UMLS:C1859359 semapv:UnspecifiedMatching MONDO:0008898 camptodactyly syndrome, Guadalajara type 1 skos:exactMatch mesh:C537970 semapv:UnspecifiedMatching MONDO:0008899 camptodactyly syndrome, Guadalajara type 2 skos:exactMatch MEDGEN:419870 semapv:UnspecifiedMatching MONDO:0008899 camptodactyly syndrome, Guadalajara type 2 skos:exactMatch OMIM:211920 camptodactyly syndrome, guadalajara, type 2 semapv:UnspecifiedMatching MONDO:0008899 camptodactyly syndrome, Guadalajara type 2 skos:exactMatch Orphanet:1326 Camptodactyly syndrome, Guadalajara type 2 semapv:UnspecifiedMatching MONDO:0008899 camptodactyly syndrome, Guadalajara type 2 skos:exactMatch SCTID:720603002 semapv:UnspecifiedMatching MONDO:0008899 camptodactyly syndrome, Guadalajara type 2 skos:exactMatch UMLS:C2931680 semapv:UnspecifiedMatching MONDO:0008899 camptodactyly syndrome, Guadalajara type 2 skos:exactMatch mesh:C567138 semapv:UnspecifiedMatching MONDO:0008900 camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia skos:exactMatch MEDGEN:1848853 semapv:UnspecifiedMatching MONDO:0008900 camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia skos:exactMatch OMIM:211930 camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia semapv:UnspecifiedMatching MONDO:0008900 camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia skos:exactMatch Orphanet:1321 Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome semapv:UnspecifiedMatching MONDO:0008900 camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia skos:exactMatch UMLS:C5848327 semapv:UnspecifiedMatching MONDO:0008900 camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia skos:exactMatch mesh:C537974 semapv:UnspecifiedMatching MONDO:0008901 Tel Hashomer camptodactyly syndrome skos:exactMatch MEDGEN:347860 semapv:UnspecifiedMatching MONDO:0008901 Tel Hashomer camptodactyly syndrome skos:exactMatch OMIM:211960 camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases semapv:UnspecifiedMatching MONDO:0008901 Tel Hashomer camptodactyly syndrome skos:exactMatch Orphanet:3292 Tel Hashomer camptodactyly syndrome semapv:UnspecifiedMatching MONDO:0008901 Tel Hashomer camptodactyly syndrome skos:exactMatch SCTID:719946008 semapv:UnspecifiedMatching MONDO:0008901 Tel Hashomer camptodactyly syndrome skos:exactMatch UMLS:C1859356 semapv:UnspecifiedMatching MONDO:0008901 Tel Hashomer camptodactyly syndrome skos:exactMatch mesh:C536953 semapv:UnspecifiedMatching MONDO:0008902 camptodactyly-ichthyosis syndrome skos:exactMatch MEDGEN:347130 semapv:UnspecifiedMatching MONDO:0008902 camptodactyly-ichthyosis syndrome skos:exactMatch OMIM:211965 camptodactyly-ichthyosis syndrome semapv:UnspecifiedMatching MONDO:0008902 camptodactyly-ichthyosis syndrome skos:exactMatch UMLS:C1859355 semapv:UnspecifiedMatching MONDO:0008902 camptodactyly-ichthyosis syndrome skos:exactMatch mesh:C537976 semapv:UnspecifiedMatching MONDO:0008903 lung cancer skos:exactMatch DOID:1324 lung cancer semapv:UnspecifiedMatching MONDO:0008903 lung cancer skos:exactMatch MEDGEN:66885 semapv:UnspecifiedMatching MONDO:0008903 lung cancer skos:exactMatch NCIT:C7377 Malignant Lung Neoplasm semapv:UnspecifiedMatching MONDO:0008903 lung cancer skos:exactMatch OMIM:211980 lung cancer semapv:UnspecifiedMatching MONDO:0008903 lung cancer skos:exactMatch SCTID:363358000 semapv:UnspecifiedMatching MONDO:0008903 lung cancer skos:exactMatch UMLS:C0242379 semapv:UnspecifiedMatching MONDO:0008904 camptomelic syndrome, long-limb type skos:exactMatch MEDGEN:347129 semapv:UnspecifiedMatching MONDO:0008904 camptomelic syndrome, long-limb type skos:exactMatch OMIM:211990 camptomelic syndrome, long-limb type semapv:UnspecifiedMatching MONDO:0008904 camptomelic syndrome, long-limb type skos:exactMatch UMLS:C1859354 semapv:UnspecifiedMatching MONDO:0008904 camptomelic syndrome, long-limb type skos:exactMatch mesh:C537977 semapv:UnspecifiedMatching MONDO:0008905 predisposition to invasive fungal disease due to CARD9 deficiency skos:exactMatch MEDGEN:347128 semapv:UnspecifiedMatching MONDO:0008905 predisposition to invasive fungal disease due to CARD9 deficiency skos:exactMatch OMIM:212050 immunodeficiency 103, susceptibility to fungal infections semapv:UnspecifiedMatching MONDO:0008905 predisposition to invasive fungal disease due to CARD9 deficiency skos:exactMatch Orphanet:457088 Predisposition to invasive fungal disease due to CARD9 deficiency semapv:UnspecifiedMatching MONDO:0008905 predisposition to invasive fungal disease due to CARD9 deficiency skos:exactMatch UMLS:C1859353 semapv:UnspecifiedMatching MONDO:0008906 obsolete carbimazole sensitivity skos:exactMatch OMIM:212060 carbimazole sensitivity semapv:UnspecifiedMatching MONDO:0008907 PMM2-congenital disorder of glycosylation skos:exactMatch DOID:0080552 congenital disorder of glycosylation Ia semapv:UnspecifiedMatching MONDO:0008907 PMM2-congenital disorder of glycosylation skos:exactMatch MEDGEN:138111 semapv:UnspecifiedMatching MONDO:0008907 PMM2-congenital disorder of glycosylation skos:exactMatch NCIT:C126868 Congenital Disorder of Glycosylation Type Ia semapv:UnspecifiedMatching MONDO:0008907 PMM2-congenital disorder of glycosylation skos:exactMatch OMIM:212065 congenital disorder of glycosylation, type ia semapv:UnspecifiedMatching MONDO:0008907 PMM2-congenital disorder of glycosylation skos:exactMatch Orphanet:79318 PMM2-CDG semapv:UnspecifiedMatching MONDO:0008907 PMM2-congenital disorder of glycosylation skos:exactMatch SCTID:459063003 semapv:UnspecifiedMatching MONDO:0008907 PMM2-congenital disorder of glycosylation skos:exactMatch UMLS:C0349653 semapv:UnspecifiedMatching MONDO:0008907 PMM2-congenital disorder of glycosylation skos:exactMatch mesh:C535739 semapv:UnspecifiedMatching MONDO:0008908 MGAT2-congenital disorder of glycosylation skos:exactMatch DOID:0070253 congenital disorder of glycosylation type IIa semapv:UnspecifiedMatching MONDO:0008908 MGAT2-congenital disorder of glycosylation skos:exactMatch MEDGEN:443956 semapv:UnspecifiedMatching MONDO:0008908 MGAT2-congenital disorder of glycosylation skos:exactMatch OMIM:212066 congenital disorder of glycosylation, type iia semapv:UnspecifiedMatching MONDO:0008908 MGAT2-congenital disorder of glycosylation skos:exactMatch Orphanet:79329 MGAT2-CDG semapv:UnspecifiedMatching MONDO:0008908 MGAT2-congenital disorder of glycosylation skos:exactMatch SCTID:724142005 semapv:UnspecifiedMatching MONDO:0008908 MGAT2-congenital disorder of glycosylation skos:exactMatch UMLS:C2931008 semapv:UnspecifiedMatching MONDO:0008908 MGAT2-congenital disorder of glycosylation skos:exactMatch mesh:C535752 semapv:UnspecifiedMatching MONDO:0008909 congenital disorder of glycosylation, type i/IIx skos:exactMatch MEDGEN:91162 semapv:UnspecifiedMatching MONDO:0008909 congenital disorder of glycosylation, type i/IIx skos:exactMatch OMIM:212067 congenital disorder of glycosylation, type i/iix semapv:UnspecifiedMatching MONDO:0008909 congenital disorder of glycosylation, type i/IIx skos:exactMatch UMLS:C0349655 semapv:UnspecifiedMatching MONDO:0008909 congenital disorder of glycosylation, type i/IIx skos:exactMatch mesh:C562844 semapv:UnspecifiedMatching MONDO:0008910 carboxypeptidase N deficiency skos:exactMatch DOID:0111583 carboxypeptidase N deficiency semapv:UnspecifiedMatching MONDO:0008910 carboxypeptidase N deficiency skos:exactMatch MEDGEN:98312 semapv:UnspecifiedMatching MONDO:0008910 carboxypeptidase N deficiency skos:exactMatch NCIT:C132196 Carboxypeptidase N Deficiency semapv:UnspecifiedMatching MONDO:0008910 carboxypeptidase N deficiency skos:exactMatch OMIM:212070 carboxypeptidase n deficiency semapv:UnspecifiedMatching MONDO:0008910 carboxypeptidase N deficiency skos:exactMatch SCTID:234627009 semapv:UnspecifiedMatching MONDO:0008910 carboxypeptidase N deficiency skos:exactMatch UMLS:C0398782 semapv:UnspecifiedMatching MONDO:0008910 carboxypeptidase N deficiency skos:exactMatch mesh:C562876 semapv:UnspecifiedMatching MONDO:0008911 cardiac lipidosis, familial skos:exactMatch MEDGEN:395234 semapv:UnspecifiedMatching MONDO:0008911 cardiac lipidosis, familial skos:exactMatch OMIM:212080 cardiac lipidosis, familial semapv:UnspecifiedMatching MONDO:0008911 cardiac lipidosis, familial skos:exactMatch UMLS:C1859332 semapv:UnspecifiedMatching MONDO:0008911 cardiac lipidosis, familial skos:exactMatch mesh:C565884 semapv:UnspecifiedMatching MONDO:0008912 cardiac septal defects with coarctation of the aorta skos:exactMatch MEDGEN:347855 semapv:UnspecifiedMatching MONDO:0008912 cardiac septal defects with coarctation of the aorta skos:exactMatch OMIM:212090 cardiac septal defects with coarctation of the aorta semapv:UnspecifiedMatching MONDO:0008912 cardiac septal defects with coarctation of the aorta skos:exactMatch UMLS:C1859331 semapv:UnspecifiedMatching MONDO:0008912 cardiac septal defects with coarctation of the aorta skos:exactMatch mesh:C565883 semapv:UnspecifiedMatching MONDO:0008913 cardiac valvular defect, developmental skos:exactMatch DOID:0080633 developmental cardiac valvular defect semapv:UnspecifiedMatching MONDO:0008913 cardiac valvular defect, developmental skos:exactMatch MEDGEN:1823949 semapv:UnspecifiedMatching MONDO:0008913 cardiac valvular defect, developmental skos:exactMatch OMIM:212093 cardiac valvular dysplasia 1 semapv:UnspecifiedMatching MONDO:0008913 cardiac valvular defect, developmental skos:exactMatch UMLS:C5774175 semapv:UnspecifiedMatching MONDO:0008913 cardiac valvular defect, developmental skos:exactMatch mesh:C565882 semapv:UnspecifiedMatching MONDO:0008914 cardioauditory syndrome of Sanchez Cascos skos:exactMatch MEDGEN:395233 semapv:UnspecifiedMatching MONDO:0008914 cardioauditory syndrome of Sanchez Cascos skos:exactMatch OMIM:212100 cardioauditory syndrome of sanchez cascos semapv:UnspecifiedMatching MONDO:0008914 cardioauditory syndrome of Sanchez Cascos skos:exactMatch UMLS:C1859329 semapv:UnspecifiedMatching MONDO:0008914 cardioauditory syndrome of Sanchez Cascos skos:exactMatch mesh:C535577 semapv:UnspecifiedMatching MONDO:0008915 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome skos:exactMatch DOID:0111584 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome semapv:UnspecifiedMatching MONDO:0008915 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome skos:exactMatch MEDGEN:162901 semapv:UnspecifiedMatching MONDO:0008915 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome skos:exactMatch NCIT:C174217 Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome semapv:UnspecifiedMatching MONDO:0008915 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome skos:exactMatch OMIM:212112 cardiomyopathy, dilated, with hypergonadotropic hypogonadism semapv:UnspecifiedMatching MONDO:0008915 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome skos:exactMatch Orphanet:2229 Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome semapv:UnspecifiedMatching MONDO:0008915 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome skos:exactMatch SCTID:719451006 semapv:UnspecifiedMatching MONDO:0008915 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome skos:exactMatch UMLS:C0796031 semapv:UnspecifiedMatching MONDO:0008916 cardiomyopathy associated with myopathy and sudden death skos:exactMatch MEDGEN:395232 semapv:UnspecifiedMatching MONDO:0008916 cardiomyopathy associated with myopathy and sudden death skos:exactMatch OMIM:212130 cardiomyopathy associated with myopathy and sudden death semapv:UnspecifiedMatching MONDO:0008916 cardiomyopathy associated with myopathy and sudden death skos:exactMatch UMLS:C1859328 semapv:UnspecifiedMatching MONDO:0008916 cardiomyopathy associated with myopathy and sudden death skos:exactMatch mesh:C565881 semapv:UnspecifiedMatching MONDO:0008917 heart defects-limb shortening syndrome skos:exactMatch MEDGEN:349142 semapv:UnspecifiedMatching MONDO:0008917 heart defects-limb shortening syndrome skos:exactMatch OMIM:212135 cardioskeletal syndrome, kuwaiti type semapv:UnspecifiedMatching MONDO:0008917 heart defects-limb shortening syndrome skos:exactMatch Orphanet:1354 Heart defects-limb shortening syndrome semapv:UnspecifiedMatching MONDO:0008917 heart defects-limb shortening syndrome skos:exactMatch SCTID:721009008 semapv:UnspecifiedMatching MONDO:0008917 heart defects-limb shortening syndrome skos:exactMatch UMLS:C1859327 semapv:UnspecifiedMatching MONDO:0008917 heart defects-limb shortening syndrome skos:exactMatch mesh:C535850 semapv:UnspecifiedMatching MONDO:0008918 carnitine-acylcarnitine translocase deficiency skos:exactMatch DOID:0111585 carnitine-acylcarnitine translocase deficiency semapv:UnspecifiedMatching MONDO:0008918 carnitine-acylcarnitine translocase deficiency skos:exactMatch MEDGEN:91000 semapv:UnspecifiedMatching MONDO:0008918 carnitine-acylcarnitine translocase deficiency skos:exactMatch NCIT:C133086 Carnitine-Acylcarnitine Translocase Deficiency semapv:UnspecifiedMatching MONDO:0008918 carnitine-acylcarnitine translocase deficiency skos:exactMatch OMIM:212138 carnitine-acylcarnitine translocase deficiency semapv:UnspecifiedMatching MONDO:0008918 carnitine-acylcarnitine translocase deficiency skos:exactMatch Orphanet:159 Carnitine-acylcarnitine translocase deficiency semapv:UnspecifiedMatching MONDO:0008918 carnitine-acylcarnitine translocase deficiency skos:exactMatch SCTID:238003000 semapv:UnspecifiedMatching MONDO:0008918 carnitine-acylcarnitine translocase deficiency skos:exactMatch UMLS:C0342791 semapv:UnspecifiedMatching MONDO:0008918 carnitine-acylcarnitine translocase deficiency skos:exactMatch icd11.foundation:677949122 Carnitine-acylcarnitine translocase deficiency semapv:UnspecifiedMatching MONDO:0008918 carnitine-acylcarnitine translocase deficiency skos:exactMatch mesh:C562812 semapv:UnspecifiedMatching MONDO:0008919 systemic primary carnitine deficiency disease skos:exactMatch DOID:14365 systemic primary carnitine deficiency disease semapv:UnspecifiedMatching MONDO:0008919 systemic primary carnitine deficiency disease skos:exactMatch ICD10CM:E71.41 Primary carnitine deficiency semapv:UnspecifiedMatching MONDO:0008919 systemic primary carnitine deficiency disease skos:exactMatch MEDGEN:90999 semapv:UnspecifiedMatching MONDO:0008919 systemic primary carnitine deficiency disease skos:exactMatch NCIT:C98864 Primary Carnitine Deficiency semapv:UnspecifiedMatching MONDO:0008919 systemic primary carnitine deficiency disease skos:exactMatch OMIM:212140 carnitine deficiency, systemic primary semapv:UnspecifiedMatching MONDO:0008919 systemic primary carnitine deficiency disease skos:exactMatch Orphanet:158 Systemic primary carnitine deficiency semapv:UnspecifiedMatching MONDO:0008919 systemic primary carnitine deficiency disease skos:exactMatch SCTID:21764004 semapv:UnspecifiedMatching MONDO:0008919 systemic primary carnitine deficiency disease skos:exactMatch UMLS:C0342788 semapv:UnspecifiedMatching MONDO:0008919 systemic primary carnitine deficiency disease skos:exactMatch mesh:C536778 semapv:UnspecifiedMatching MONDO:0008920 carnitine deficiency, myopathic skos:exactMatch MEDGEN:347852 semapv:UnspecifiedMatching MONDO:0008920 carnitine deficiency, myopathic skos:exactMatch OMIM:212160 carnitine deficiency, myopathic semapv:UnspecifiedMatching MONDO:0008920 carnitine deficiency, myopathic skos:exactMatch UMLS:C1859318 semapv:UnspecifiedMatching MONDO:0008920 carnitine deficiency, myopathic skos:exactMatch mesh:C536100 semapv:UnspecifiedMatching MONDO:0008921 carnosinemia skos:exactMatch MEDGEN:501203 semapv:UnspecifiedMatching MONDO:0008921 carnosinemia skos:exactMatch NCIT:C125661 Carnosinemia semapv:UnspecifiedMatching MONDO:0008921 carnosinemia skos:exactMatch OMIM:212200 carnosinemia semapv:UnspecifiedMatching MONDO:0008921 carnosinemia skos:exactMatch Orphanet:1361 Carnosinase deficiency semapv:UnspecifiedMatching MONDO:0008921 carnosinemia skos:exactMatch SCTID:410052008 semapv:UnspecifiedMatching MONDO:0008921 carnosinemia skos:exactMatch UMLS:C3495555 semapv:UnspecifiedMatching MONDO:0008922 Sengers syndrome skos:exactMatch DOID:0080132 Sengers syndrome semapv:UnspecifiedMatching MONDO:0008922 Sengers syndrome skos:exactMatch MEDGEN:395228 semapv:UnspecifiedMatching MONDO:0008922 Sengers syndrome skos:exactMatch OMIM:212350 sengers syndrome semapv:UnspecifiedMatching MONDO:0008922 Sengers syndrome skos:exactMatch Orphanet:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome semapv:UnspecifiedMatching MONDO:0008922 Sengers syndrome skos:exactMatch SCTID:717812000 semapv:UnspecifiedMatching MONDO:0008922 Sengers syndrome skos:exactMatch UMLS:C1859317 semapv:UnspecifiedMatching MONDO:0008922 Sengers syndrome skos:exactMatch icd11.foundation:22670425 Cataract - cardiomyopathy semapv:UnspecifiedMatching MONDO:0008922 Sengers syndrome skos:exactMatch mesh:C538280 semapv:UnspecifiedMatching MONDO:0008923 autosomal recessive palmoplantar keratoderma and congenital alopecia skos:exactMatch DOID:0111245 palmoplantar keratoderma and congenital alopecia 2 semapv:UnspecifiedMatching MONDO:0008923 autosomal recessive palmoplantar keratoderma and congenital alopecia skos:exactMatch MEDGEN:347851 semapv:UnspecifiedMatching MONDO:0008923 autosomal recessive palmoplantar keratoderma and congenital alopecia skos:exactMatch OMIM:212360 palmoplantar keratoderma and congenital alopecia 2 semapv:UnspecifiedMatching MONDO:0008923 autosomal recessive palmoplantar keratoderma and congenital alopecia skos:exactMatch Orphanet:1366 Autosomal recessive palmoplantar keratoderma and congenital alopecia semapv:UnspecifiedMatching MONDO:0008923 autosomal recessive palmoplantar keratoderma and congenital alopecia skos:exactMatch UMLS:C1859316 semapv:UnspecifiedMatching MONDO:0008923 autosomal recessive palmoplantar keratoderma and congenital alopecia skos:exactMatch icd11.foundation:1733151457 Autosomal recessive palmoplantar keratoderma and congenital alopecia semapv:UnspecifiedMatching MONDO:0008923 autosomal recessive palmoplantar keratoderma and congenital alopecia skos:exactMatch mesh:C535336 semapv:UnspecifiedMatching MONDO:0008924 congenital cataract-ichthyosis syndrome skos:exactMatch MEDGEN:347122 semapv:UnspecifiedMatching MONDO:0008924 congenital cataract-ichthyosis syndrome skos:exactMatch OMIM:212400 cataract and congenital ichthyosis semapv:UnspecifiedMatching MONDO:0008924 congenital cataract-ichthyosis syndrome skos:exactMatch UMLS:C1859315 semapv:UnspecifiedMatching MONDO:0008924 congenital cataract-ichthyosis syndrome skos:exactMatch mesh:C538281 semapv:UnspecifiedMatching MONDO:0008925 cataract 46 juvenile-onset skos:exactMatch DOID:0110243 cataract 46 juvenile-onset semapv:UnspecifiedMatching MONDO:0008925 cataract 46 juvenile-onset skos:exactMatch MEDGEN:113102 semapv:UnspecifiedMatching MONDO:0008925 cataract 46 juvenile-onset skos:exactMatch OMIM:212500 cataract 46, juvenile-onset, with or without arrhythmic cardiomyopathy semapv:UnspecifiedMatching MONDO:0008925 cataract 46 juvenile-onset skos:exactMatch UMLS:C0220721 semapv:UnspecifiedMatching MONDO:0008925 cataract 46 juvenile-onset skos:exactMatch mesh:C538286 semapv:UnspecifiedMatching MONDO:0008926 COFS syndrome skos:exactMatch DOID:0080910 cerebrooculofacioskeletal syndrome semapv:UnspecifiedMatching MONDO:0008926 COFS syndrome skos:exactMatch MEDGEN:1762238 semapv:UnspecifiedMatching MONDO:0008926 COFS syndrome skos:exactMatch NCIT:C3817 Cerebrooculofacioskeletal Syndrome semapv:UnspecifiedMatching MONDO:0008926 COFS syndrome skos:exactMatch OMIMPS:214150 Cerebrooculofacioskeletal syndrome semapv:UnspecifiedMatching MONDO:0008926 COFS syndrome skos:exactMatch Orphanet:1466 COFS syndrome semapv:UnspecifiedMatching MONDO:0008926 COFS syndrome skos:exactMatch UMLS:C5399761 semapv:UnspecifiedMatching MONDO:0008927 colobomatous optic disc-macular atrophy-chorioretinopathy syndrome skos:exactMatch DOID:0080635 optic disc anomalies with retinal and/or macular dystrophy semapv:UnspecifiedMatching MONDO:0008927 colobomatous optic disc-macular atrophy-chorioretinopathy syndrome skos:exactMatch MEDGEN:894574 semapv:UnspecifiedMatching MONDO:0008927 colobomatous optic disc-macular atrophy-chorioretinopathy syndrome skos:exactMatch OMIM:212550 optic disc anomalies with retinal and/or macular dystrophy semapv:UnspecifiedMatching MONDO:0008927 colobomatous optic disc-macular atrophy-chorioretinopathy syndrome skos:exactMatch Orphanet:435930 Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome semapv:UnspecifiedMatching MONDO:0008927 colobomatous optic disc-macular atrophy-chorioretinopathy syndrome skos:exactMatch UMLS:C4225424 semapv:UnspecifiedMatching MONDO:0008927 colobomatous optic disc-macular atrophy-chorioretinopathy syndrome skos:exactMatch mesh:C565876 semapv:UnspecifiedMatching MONDO:0008928 cataract-ataxia-deafness syndrome skos:exactMatch MEDGEN:163216 semapv:UnspecifiedMatching MONDO:0008928 cataract-ataxia-deafness syndrome skos:exactMatch OMIM:212710 cataract-ataxia-deafness-retardation syndrome semapv:UnspecifiedMatching MONDO:0008928 cataract-ataxia-deafness syndrome skos:exactMatch Orphanet:1368 Cataract-ataxia-deafness syndrome semapv:UnspecifiedMatching MONDO:0008928 cataract-ataxia-deafness syndrome skos:exactMatch UMLS:C0796123 semapv:UnspecifiedMatching MONDO:0008928 cataract-ataxia-deafness syndrome skos:exactMatch mesh:C538283 semapv:UnspecifiedMatching MONDO:0008930 celiac disease, susceptibility to, 1 skos:exactMatch MEDGEN:395227 semapv:UnspecifiedMatching MONDO:0008930 celiac disease, susceptibility to, 1 skos:exactMatch OMIM:212750 celiac disease, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0008930 celiac disease, susceptibility to, 1 skos:exactMatch UMLS:C1859310 semapv:UnspecifiedMatching MONDO:0008931 Cenani-Lenz syndactyly syndrome skos:exactMatch DOID:0090015 Cenani-Lenz syndactyly syndrome semapv:UnspecifiedMatching MONDO:0008931 Cenani-Lenz syndactyly syndrome skos:exactMatch MEDGEN:395226 semapv:UnspecifiedMatching MONDO:0008931 Cenani-Lenz syndactyly syndrome skos:exactMatch OMIM:212780 cenani-lenz syndactyly syndrome semapv:UnspecifiedMatching MONDO:0008931 Cenani-Lenz syndactyly syndrome skos:exactMatch Orphanet:3258 Cenani-Lenz syndrome semapv:UnspecifiedMatching MONDO:0008931 Cenani-Lenz syndactyly syndrome skos:exactMatch SCTID:720633009 semapv:UnspecifiedMatching MONDO:0008931 Cenani-Lenz syndactyly syndrome skos:exactMatch UMLS:C1859309 semapv:UnspecifiedMatching MONDO:0008931 Cenani-Lenz syndactyly syndrome skos:exactMatch mesh:C538150 semapv:UnspecifiedMatching MONDO:0008932 premature centromere division skos:exactMatch MEDGEN:349138 semapv:UnspecifiedMatching MONDO:0008932 premature centromere division skos:exactMatch OMIM:212790 premature centromere division semapv:UnspecifiedMatching MONDO:0008932 premature centromere division skos:exactMatch UMLS:C1859308 semapv:UnspecifiedMatching MONDO:0008933 cephalin lipidosis skos:exactMatch MEDGEN:395225 semapv:UnspecifiedMatching MONDO:0008933 cephalin lipidosis skos:exactMatch OMIM:212800 cephalin lipidosis semapv:UnspecifiedMatching MONDO:0008933 cephalin lipidosis skos:exactMatch UMLS:C1859307 semapv:UnspecifiedMatching MONDO:0008933 cephalin lipidosis skos:exactMatch mesh:C565872 semapv:UnspecifiedMatching MONDO:0008934 cerebellar ataxia-ectodermal dysplasia syndrome skos:exactMatch MEDGEN:347850 semapv:UnspecifiedMatching MONDO:0008934 cerebellar ataxia-ectodermal dysplasia syndrome skos:exactMatch OMIM:212835 cerebellar ataxia and ectodermal dysplasia semapv:UnspecifiedMatching MONDO:0008934 cerebellar ataxia-ectodermal dysplasia syndrome skos:exactMatch Orphanet:1174 Cerebellar ataxia-ectodermal dysplasia syndrome semapv:UnspecifiedMatching MONDO:0008934 cerebellar ataxia-ectodermal dysplasia syndrome skos:exactMatch SCTID:715371006 semapv:UnspecifiedMatching MONDO:0008934 cerebellar ataxia-ectodermal dysplasia syndrome skos:exactMatch UMLS:C1859306 semapv:UnspecifiedMatching MONDO:0008934 cerebellar ataxia-ectodermal dysplasia syndrome skos:exactMatch mesh:C535350 semapv:UnspecifiedMatching MONDO:0008935 cerebellar ataxia-hypogonadism syndrome skos:exactMatch DOID:0111587 Gordon Holmes syndrome semapv:UnspecifiedMatching MONDO:0008935 cerebellar ataxia-hypogonadism syndrome skos:exactMatch MEDGEN:349137 semapv:UnspecifiedMatching MONDO:0008935 cerebellar ataxia-hypogonadism syndrome skos:exactMatch OMIM:212840 gordon holmes syndrome semapv:UnspecifiedMatching MONDO:0008935 cerebellar ataxia-hypogonadism syndrome skos:exactMatch Orphanet:1173 Cerebellar ataxia-hypogonadism syndrome semapv:UnspecifiedMatching MONDO:0008935 cerebellar ataxia-hypogonadism syndrome skos:exactMatch UMLS:C1859305 semapv:UnspecifiedMatching MONDO:0008935 cerebellar ataxia-hypogonadism syndrome skos:exactMatch mesh:C565870 semapv:UnspecifiedMatching MONDO:0008936 cerebellar ataxia and neurosensory deafness skos:exactMatch MEDGEN:395224 semapv:UnspecifiedMatching MONDO:0008936 cerebellar ataxia and neurosensory deafness skos:exactMatch OMIM:212850 cerebellar ataxia and neurosensory deafness semapv:UnspecifiedMatching MONDO:0008936 cerebellar ataxia and neurosensory deafness skos:exactMatch UMLS:C1859304 semapv:UnspecifiedMatching MONDO:0008936 cerebellar ataxia and neurosensory deafness skos:exactMatch mesh:C565869 semapv:UnspecifiedMatching MONDO:0008937 cerebellar ataxia, benign, with thermoanalgesia skos:exactMatch MEDGEN:349136 semapv:UnspecifiedMatching MONDO:0008937 cerebellar ataxia, benign, with thermoanalgesia skos:exactMatch OMIM:212890 cerebellar ataxia, benign, with thermoanalgesia semapv:UnspecifiedMatching MONDO:0008937 cerebellar ataxia, benign, with thermoanalgesia skos:exactMatch UMLS:C1859303 semapv:UnspecifiedMatching MONDO:0008937 cerebellar ataxia, benign, with thermoanalgesia skos:exactMatch mesh:C565868 semapv:UnspecifiedMatching MONDO:0008938 early-onset cerebellar ataxia with retained tendon reflexes skos:exactMatch MEDGEN:140726 semapv:UnspecifiedMatching MONDO:0008938 early-onset cerebellar ataxia with retained tendon reflexes skos:exactMatch OMIM:212895 cerebellar ataxia, early-onset, with retained tendon reflexes semapv:UnspecifiedMatching MONDO:0008938 early-onset cerebellar ataxia with retained tendon reflexes skos:exactMatch Orphanet:1177 Early-onset cerebellar ataxia with retained tendon reflexes semapv:UnspecifiedMatching MONDO:0008938 early-onset cerebellar ataxia with retained tendon reflexes skos:exactMatch SCTID:230228004 semapv:UnspecifiedMatching MONDO:0008938 early-onset cerebellar ataxia with retained tendon reflexes skos:exactMatch UMLS:C0393520 semapv:UnspecifiedMatching MONDO:0008938 early-onset cerebellar ataxia with retained tendon reflexes skos:exactMatch mesh:C535633 semapv:UnspecifiedMatching MONDO:0008939 isolated cerebellar hypoplasia/agenesis skos:exactMatch DOID:0070338 cerebellar hypoplasia semapv:UnspecifiedMatching MONDO:0008939 isolated cerebellar hypoplasia/agenesis skos:exactMatch MEDGEN:1695950 semapv:UnspecifiedMatching MONDO:0008939 isolated cerebellar hypoplasia/agenesis skos:exactMatch NCIT:C98890 Congenital Cerebellar Hypoplasia semapv:UnspecifiedMatching MONDO:0008939 isolated cerebellar hypoplasia/agenesis skos:exactMatch OMIM:213000 cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay semapv:UnspecifiedMatching MONDO:0008939 isolated cerebellar hypoplasia/agenesis skos:exactMatch Orphanet:1398 Isolated cerebellar agenesis semapv:UnspecifiedMatching MONDO:0008939 isolated cerebellar hypoplasia/agenesis skos:exactMatch SCTID:16026008 semapv:UnspecifiedMatching MONDO:0008939 isolated cerebellar hypoplasia/agenesis skos:exactMatch UMLS:C5231391 semapv:UnspecifiedMatching MONDO:0008939 isolated cerebellar hypoplasia/agenesis skos:exactMatch mesh:C562568 semapv:UnspecifiedMatching MONDO:0008941 hepatic fibrosis-renal cysts-intellectual disability syndrome skos:exactMatch MEDGEN:347120 semapv:UnspecifiedMatching MONDO:0008941 hepatic fibrosis-renal cysts-intellectual disability syndrome skos:exactMatch OMIM:213010 cerebellar vermis aplasia with associated features suggesting smith-lemli-opitz syndrome and meckel syndrome semapv:UnspecifiedMatching MONDO:0008941 hepatic fibrosis-renal cysts-intellectual disability syndrome skos:exactMatch Orphanet:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0008941 hepatic fibrosis-renal cysts-intellectual disability syndrome skos:exactMatch UMLS:C1859300 semapv:UnspecifiedMatching MONDO:0008941 hepatic fibrosis-renal cysts-intellectual disability syndrome skos:exactMatch mesh:C565867 semapv:UnspecifiedMatching MONDO:0008943 autosomal recessive spinocerebellar ataxia 2 skos:exactMatch DOID:0080061 autosomal recessive spinocerebellar ataxia 2 semapv:UnspecifiedMatching MONDO:0008943 autosomal recessive spinocerebellar ataxia 2 skos:exactMatch MEDGEN:349134 semapv:UnspecifiedMatching MONDO:0008943 autosomal recessive spinocerebellar ataxia 2 skos:exactMatch OMIM:213200 spinocerebellar ataxia, autosomal recessive 2 semapv:UnspecifiedMatching MONDO:0008943 autosomal recessive spinocerebellar ataxia 2 skos:exactMatch Orphanet:1170 Autosomal recessive cerebelloparenchymal disorder type 3 semapv:UnspecifiedMatching MONDO:0008943 autosomal recessive spinocerebellar ataxia 2 skos:exactMatch SCTID:715369006 semapv:UnspecifiedMatching MONDO:0008943 autosomal recessive spinocerebellar ataxia 2 skos:exactMatch UMLS:C1859298 semapv:UnspecifiedMatching MONDO:0008943 autosomal recessive spinocerebellar ataxia 2 skos:exactMatch mesh:C565865 semapv:UnspecifiedMatching MONDO:0008944 Joubert syndrome 1 skos:exactMatch DOID:0110980 Joubert syndrome 1 semapv:UnspecifiedMatching MONDO:0008944 Joubert syndrome 1 skos:exactMatch MEDGEN:1644883 semapv:UnspecifiedMatching MONDO:0008944 Joubert syndrome 1 skos:exactMatch OMIM:213300 joubert syndrome 1 semapv:UnspecifiedMatching MONDO:0008944 Joubert syndrome 1 skos:exactMatch UMLS:C4551568 semapv:UnspecifiedMatching MONDO:0008945 myoclonic cerebellar dyssynergia skos:exactMatch DOID:12707 myoclonic cerebellar dyssynergia semapv:UnspecifiedMatching MONDO:0008945 myoclonic cerebellar dyssynergia skos:exactMatch EFO:1001053 semapv:UnspecifiedMatching MONDO:0008945 myoclonic cerebellar dyssynergia skos:exactMatch MEDGEN:483579 semapv:UnspecifiedMatching MONDO:0008945 myoclonic cerebellar dyssynergia skos:exactMatch OMIM:213400 dyssynergia cerebellaris myoclonica of hunt semapv:UnspecifiedMatching MONDO:0008945 myoclonic cerebellar dyssynergia skos:exactMatch SCTID:73495003 semapv:UnspecifiedMatching MONDO:0008945 myoclonic cerebellar dyssynergia skos:exactMatch UMLS:C3489626 semapv:UnspecifiedMatching MONDO:0008945 myoclonic cerebellar dyssynergia skos:exactMatch mesh:D002527 semapv:UnspecifiedMatching MONDO:0008946 cerebral angiopathy, dysphoric skos:exactMatch MEDGEN:349128 semapv:UnspecifiedMatching MONDO:0008946 cerebral angiopathy, dysphoric skos:exactMatch OMIM:213500 cerebral angiopathy, dysphoric semapv:UnspecifiedMatching MONDO:0008946 cerebral angiopathy, dysphoric skos:exactMatch UMLS:C1859283 semapv:UnspecifiedMatching MONDO:0008946 cerebral angiopathy, dysphoric skos:exactMatch mesh:C565864 semapv:UnspecifiedMatching MONDO:0008947 bilateral striopallidodentate calcinosis skos:exactMatch DOID:0060230 basal ganglia calcification semapv:UnspecifiedMatching MONDO:0008947 bilateral striopallidodentate calcinosis skos:exactMatch OMIMPS:213600 Basal ganglia calcification, idiopathic semapv:UnspecifiedMatching MONDO:0008947 bilateral striopallidodentate calcinosis skos:exactMatch Orphanet:1980 Bilateral striopallidodentate calcinosis semapv:UnspecifiedMatching MONDO:0008947 bilateral striopallidodentate calcinosis skos:exactMatch SCTID:110997000 semapv:UnspecifiedMatching MONDO:0008947 bilateral striopallidodentate calcinosis skos:exactMatch SCTID:230311004 semapv:UnspecifiedMatching MONDO:0008947 bilateral striopallidodentate calcinosis skos:exactMatch icd11.foundation:1081370436 Bilateral striopallidodentate calcinosis semapv:UnspecifiedMatching MONDO:0008947 bilateral striopallidodentate calcinosis skos:exactMatch mesh:C536275 semapv:UnspecifiedMatching MONDO:0008948 cerebrotendinous xanthomatosis skos:exactMatch DOID:4810 cerebrotendinous xanthomatosis semapv:UnspecifiedMatching MONDO:0008948 cerebrotendinous xanthomatosis skos:exactMatch MEDGEN:116041 semapv:UnspecifiedMatching MONDO:0008948 cerebrotendinous xanthomatosis skos:exactMatch NCIT:C84628 Cerebrotendinous Xanthomatosis semapv:UnspecifiedMatching MONDO:0008948 cerebrotendinous xanthomatosis skos:exactMatch OMIM:213700 cerebrotendinous xanthomatosis semapv:UnspecifiedMatching MONDO:0008948 cerebrotendinous xanthomatosis skos:exactMatch Orphanet:909 Cerebrotendinous xanthomatosis semapv:UnspecifiedMatching MONDO:0008948 cerebrotendinous xanthomatosis skos:exactMatch SCTID:63246000 semapv:UnspecifiedMatching MONDO:0008948 cerebrotendinous xanthomatosis skos:exactMatch UMLS:C0238052 semapv:UnspecifiedMatching MONDO:0008948 cerebrotendinous xanthomatosis skos:exactMatch icd11.foundation:1556875179 Cerebrotendinous xanthomatosis semapv:UnspecifiedMatching MONDO:0008948 cerebrotendinous xanthomatosis skos:exactMatch mesh:D019294 semapv:UnspecifiedMatching MONDO:0008949 cerebral malformation, seizures, hypertrichosis, and overlapping fingers skos:exactMatch MEDGEN:395211 semapv:UnspecifiedMatching MONDO:0008949 cerebral malformation, seizures, hypertrichosis, and overlapping fingers skos:exactMatch OMIM:213820 cerebral malformation, seizures, hypertrichosis, and overlapping fingers semapv:UnspecifiedMatching MONDO:0008949 cerebral malformation, seizures, hypertrichosis, and overlapping fingers skos:exactMatch UMLS:C1859259 semapv:UnspecifiedMatching MONDO:0008949 cerebral malformation, seizures, hypertrichosis, and overlapping fingers skos:exactMatch mesh:C537370 semapv:UnspecifiedMatching MONDO:0008950 cerebral sclerosis similar to Pelizaeus-Merzbacher disease skos:exactMatch MEDGEN:395210 semapv:UnspecifiedMatching MONDO:0008950 cerebral sclerosis similar to Pelizaeus-Merzbacher disease skos:exactMatch OMIM:213900 cerebral sclerosis similar to pelizaeus-merzbacher disease semapv:UnspecifiedMatching MONDO:0008950 cerebral sclerosis similar to Pelizaeus-Merzbacher disease skos:exactMatch UMLS:C1859258 semapv:UnspecifiedMatching MONDO:0008950 cerebral sclerosis similar to Pelizaeus-Merzbacher disease skos:exactMatch mesh:C536318 semapv:UnspecifiedMatching MONDO:0008951 cerebrocortical degeneration of infancy skos:exactMatch MEDGEN:347837 semapv:UnspecifiedMatching MONDO:0008951 cerebrocortical degeneration of infancy skos:exactMatch OMIM:213950 cerebrocortical degeneration of infancy semapv:UnspecifiedMatching MONDO:0008951 cerebrocortical degeneration of infancy skos:exactMatch UMLS:C1859257 semapv:UnspecifiedMatching MONDO:0008951 cerebrocortical degeneration of infancy skos:exactMatch mesh:C565863 semapv:UnspecifiedMatching MONDO:0008953 peroxisome biogenesis disorder 1A (Zellweger) skos:exactMatch DOID:0080476 peroxisome biogenesis disorder 1A semapv:UnspecifiedMatching MONDO:0008953 peroxisome biogenesis disorder 1A (Zellweger) skos:exactMatch MEDGEN:1648474 semapv:UnspecifiedMatching MONDO:0008953 peroxisome biogenesis disorder 1A (Zellweger) skos:exactMatch OMIM:214100 peroxisome biogenesis disorder 1a (zellweger) semapv:UnspecifiedMatching MONDO:0008953 peroxisome biogenesis disorder 1A (Zellweger) skos:exactMatch UMLS:C4721541 semapv:UnspecifiedMatching MONDO:0008954 peroxisome biogenesis disorder 2A (Zellweger) skos:exactMatch DOID:0080477 peroxisome biogenesis disorder 2A semapv:UnspecifiedMatching MONDO:0008954 peroxisome biogenesis disorder 2A (Zellweger) skos:exactMatch MEDGEN:763187 semapv:UnspecifiedMatching MONDO:0008954 peroxisome biogenesis disorder 2A (Zellweger) skos:exactMatch OMIM:214110 peroxisome biogenesis disorder 2a (zellweger) semapv:UnspecifiedMatching MONDO:0008954 peroxisome biogenesis disorder 2A (Zellweger) skos:exactMatch UMLS:C3550273 semapv:UnspecifiedMatching MONDO:0008955 cerebrooculofacioskeletal syndrome 1 skos:exactMatch DOID:0080911 cerebrooculofacioskeletal syndrome 1 semapv:UnspecifiedMatching MONDO:0008955 cerebrooculofacioskeletal syndrome 1 skos:exactMatch MEDGEN:66320 semapv:UnspecifiedMatching MONDO:0008955 cerebrooculofacioskeletal syndrome 1 skos:exactMatch NCIT:C173085 Cerebrooculofacioskeletal Syndrome 1 semapv:UnspecifiedMatching MONDO:0008955 cerebrooculofacioskeletal syndrome 1 skos:exactMatch OMIM:214150 cerebrooculofacioskeletal syndrome 1 semapv:UnspecifiedMatching MONDO:0008955 cerebrooculofacioskeletal syndrome 1 skos:exactMatch UMLS:C0220722 semapv:UnspecifiedMatching MONDO:0008957 cervical vertebrae, agenesis of skos:exactMatch MEDGEN:140922 semapv:UnspecifiedMatching MONDO:0008957 cervical vertebrae, agenesis of skos:exactMatch OMIM:214290 cervical vertebrae, agenesis of semapv:UnspecifiedMatching MONDO:0008957 cervical vertebrae, agenesis of skos:exactMatch UMLS:C0432160 semapv:UnspecifiedMatching MONDO:0008957 cervical vertebrae, agenesis of skos:exactMatch mesh:C562952 semapv:UnspecifiedMatching MONDO:0008958 Klippel-Feil syndrome 2, autosomal recessive skos:exactMatch DOID:0080590 Klippel-Feil syndrome 2 semapv:UnspecifiedMatching MONDO:0008958 Klippel-Feil syndrome 2, autosomal recessive skos:exactMatch MEDGEN:395201 semapv:UnspecifiedMatching MONDO:0008958 Klippel-Feil syndrome 2, autosomal recessive skos:exactMatch OMIM:214300 klippel-feil syndrome 2, autosomal recessive semapv:UnspecifiedMatching MONDO:0008958 Klippel-Feil syndrome 2, autosomal recessive skos:exactMatch UMLS:C1859209 semapv:UnspecifiedMatching MONDO:0008958 Klippel-Feil syndrome 2, autosomal recessive skos:exactMatch mesh:C536888 semapv:UnspecifiedMatching MONDO:0008959 CHAND syndrome skos:exactMatch MEDGEN:98035 semapv:UnspecifiedMatching MONDO:0008959 CHAND syndrome skos:exactMatch OMIM:214350 chand syndrome semapv:UnspecifiedMatching MONDO:0008959 CHAND syndrome skos:exactMatch Orphanet:1401 CHAND syndrome semapv:UnspecifiedMatching MONDO:0008959 CHAND syndrome skos:exactMatch SCTID:239037001 semapv:UnspecifiedMatching MONDO:0008959 CHAND syndrome skos:exactMatch UMLS:C0406733 semapv:UnspecifiedMatching MONDO:0008959 CHAND syndrome skos:exactMatch mesh:C538074 semapv:UnspecifiedMatching MONDO:0008960 Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome skos:exactMatch MEDGEN:348419 semapv:UnspecifiedMatching MONDO:0008960 Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome skos:exactMatch OMIM:214370 neuropathy, hereditary motor and sensory, with deafness, impaired intellectual development, and absent sensory large myelinated fibers semapv:UnspecifiedMatching MONDO:0008960 Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome skos:exactMatch Orphanet:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0008960 Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome skos:exactMatch SCTID:715666007 semapv:UnspecifiedMatching MONDO:0008960 Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome skos:exactMatch UMLS:C1861669 semapv:UnspecifiedMatching MONDO:0008961 Charcot-Marie-Tooth disease type 4A skos:exactMatch DOID:0110185 Charcot-Marie-Tooth disease type 4A semapv:UnspecifiedMatching MONDO:0008961 Charcot-Marie-Tooth disease type 4A skos:exactMatch MEDGEN:347821 semapv:UnspecifiedMatching MONDO:0008961 Charcot-Marie-Tooth disease type 4A skos:exactMatch OMIM:214400 charcot-marie-tooth disease, demyelinating, type 4a semapv:UnspecifiedMatching MONDO:0008961 Charcot-Marie-Tooth disease type 4A skos:exactMatch Orphanet:99948 Charcot-Marie-Tooth disease type 4A semapv:UnspecifiedMatching MONDO:0008961 Charcot-Marie-Tooth disease type 4A skos:exactMatch SCTID:715796006 semapv:UnspecifiedMatching MONDO:0008961 Charcot-Marie-Tooth disease type 4A skos:exactMatch UMLS:C1859198 semapv:UnspecifiedMatching MONDO:0008961 Charcot-Marie-Tooth disease type 4A skos:exactMatch icd11.foundation:1476665103 Charcot-Marie-Tooth disease type 4A semapv:UnspecifiedMatching MONDO:0008961 Charcot-Marie-Tooth disease type 4A skos:exactMatch mesh:C535419 semapv:UnspecifiedMatching MONDO:0008962 Griscelli syndrome type 1 skos:exactMatch DOID:0060832 Griscelli syndrome type 1 semapv:UnspecifiedMatching MONDO:0008962 Griscelli syndrome type 1 skos:exactMatch MEDGEN:347092 semapv:UnspecifiedMatching MONDO:0008962 Griscelli syndrome type 1 skos:exactMatch OMIM:214450 griscelli syndrome, type 1 semapv:UnspecifiedMatching MONDO:0008962 Griscelli syndrome type 1 skos:exactMatch Orphanet:79476 Griscelli syndrome type 1 semapv:UnspecifiedMatching MONDO:0008962 Griscelli syndrome type 1 skos:exactMatch UMLS:C1859194 semapv:UnspecifiedMatching MONDO:0008962 Griscelli syndrome type 1 skos:exactMatch icd11.foundation:875700770 Griscelli syndrome type 1 semapv:UnspecifiedMatching MONDO:0008962 Griscelli syndrome type 1 skos:exactMatch mesh:C537301 semapv:UnspecifiedMatching MONDO:0008963 Chediak-Higashi syndrome skos:exactMatch DOID:2935 Chediak-Higashi syndrome semapv:UnspecifiedMatching MONDO:0008963 Chediak-Higashi syndrome skos:exactMatch ICD10CM:E70.330 Chediak-Higashi syndrome semapv:UnspecifiedMatching MONDO:0008963 Chediak-Higashi syndrome skos:exactMatch MEDGEN:3347 semapv:UnspecifiedMatching MONDO:0008963 Chediak-Higashi syndrome skos:exactMatch NCIT:C2941 Chediak-Higashi Syndrome semapv:UnspecifiedMatching MONDO:0008963 Chediak-Higashi syndrome skos:exactMatch OMIM:214500 chediak-higashi syndrome semapv:UnspecifiedMatching MONDO:0008963 Chediak-Higashi syndrome skos:exactMatch Orphanet:167 Chédiak-Higashi syndrome semapv:UnspecifiedMatching MONDO:0008963 Chediak-Higashi syndrome skos:exactMatch SCTID:111396008 semapv:UnspecifiedMatching MONDO:0008963 Chediak-Higashi syndrome skos:exactMatch UMLS:C0007965 semapv:UnspecifiedMatching MONDO:0008963 Chediak-Higashi syndrome skos:exactMatch mesh:D002609 semapv:UnspecifiedMatching MONDO:0008964 congenital secretory chloride diarrhea 1 skos:exactMatch DOID:0060296 congenital secretory chloride diarrhea 1 semapv:UnspecifiedMatching MONDO:0008964 congenital secretory chloride diarrhea 1 skos:exactMatch MEDGEN:78631 semapv:UnspecifiedMatching MONDO:0008964 congenital secretory chloride diarrhea 1 skos:exactMatch OMIM:214700 diarrhea 1, secretory chloride, congenital semapv:UnspecifiedMatching MONDO:0008964 congenital secretory chloride diarrhea 1 skos:exactMatch Orphanet:53689 Congenital chloride diarrhea semapv:UnspecifiedMatching MONDO:0008964 congenital secretory chloride diarrhea 1 skos:exactMatch SCTID:24412005 semapv:UnspecifiedMatching MONDO:0008964 congenital secretory chloride diarrhea 1 skos:exactMatch UMLS:C0267662 semapv:UnspecifiedMatching MONDO:0008964 congenital secretory chloride diarrhea 1 skos:exactMatch mesh:C536210 semapv:UnspecifiedMatching MONDO:0008965 CHARGE syndrome skos:exactMatch DOID:0050834 CHARGE syndrome semapv:UnspecifiedMatching MONDO:0008965 CHARGE syndrome skos:exactMatch MEDGEN:75567 semapv:UnspecifiedMatching MONDO:0008965 CHARGE syndrome skos:exactMatch NCIT:C75100 CHARGE Syndrome semapv:UnspecifiedMatching MONDO:0008965 CHARGE syndrome skos:exactMatch Orphanet:138 CHARGE syndrome semapv:UnspecifiedMatching MONDO:0008965 CHARGE syndrome skos:exactMatch SCTID:47535005 semapv:UnspecifiedMatching MONDO:0008965 CHARGE syndrome skos:exactMatch UMLS:C0265354 semapv:UnspecifiedMatching MONDO:0008965 CHARGE syndrome skos:exactMatch icd11.foundation:52086532 CHARGE syndrome semapv:UnspecifiedMatching MONDO:0008965 CHARGE syndrome skos:exactMatch mesh:D058747 semapv:UnspecifiedMatching MONDO:0008966 Aagenaes syndrome skos:exactMatch DOID:6691 Aagenaes syndrome semapv:UnspecifiedMatching MONDO:0008966 Aagenaes syndrome skos:exactMatch MEDGEN:78658 semapv:UnspecifiedMatching MONDO:0008966 Aagenaes syndrome skos:exactMatch NCIT:C35709 Aagenaes Syndrome semapv:UnspecifiedMatching MONDO:0008966 Aagenaes syndrome skos:exactMatch OMIM:214900 cholestasis-lymphedema syndrome semapv:UnspecifiedMatching MONDO:0008966 Aagenaes syndrome skos:exactMatch Orphanet:1414 Cholestasis-lymphedema syndrome semapv:UnspecifiedMatching MONDO:0008966 Aagenaes syndrome skos:exactMatch SCTID:28724005 semapv:UnspecifiedMatching MONDO:0008966 Aagenaes syndrome skos:exactMatch UMLS:C0268314 semapv:UnspecifiedMatching MONDO:0008966 Aagenaes syndrome skos:exactMatch mesh:C535330 semapv:UnspecifiedMatching MONDO:0008967 congenital bile acid synthesis defect 4 skos:exactMatch DOID:0111068 congenital bile acid synthesis defect 4 semapv:UnspecifiedMatching MONDO:0008967 congenital bile acid synthesis defect 4 skos:exactMatch MEDGEN:388039 semapv:UnspecifiedMatching MONDO:0008967 congenital bile acid synthesis defect 4 skos:exactMatch OMIM:214950 bile acid synthesis defect, congenital, 4 semapv:UnspecifiedMatching MONDO:0008967 congenital bile acid synthesis defect 4 skos:exactMatch Orphanet:79095 Congenital bile acid synthesis defect type 4 semapv:UnspecifiedMatching MONDO:0008967 congenital bile acid synthesis defect 4 skos:exactMatch UMLS:C1858328 semapv:UnspecifiedMatching MONDO:0008967 congenital bile acid synthesis defect 4 skos:exactMatch mesh:C535444 semapv:UnspecifiedMatching MONDO:0008968 cholestasis with gallstone, ataxia, and visual disturbance skos:exactMatch MEDGEN:347812 semapv:UnspecifiedMatching MONDO:0008968 cholestasis with gallstone, ataxia, and visual disturbance skos:exactMatch OMIM:214980 cholestasis with gallstone, ataxia, and visual disturbance semapv:UnspecifiedMatching MONDO:0008968 cholestasis with gallstone, ataxia, and visual disturbance skos:exactMatch UMLS:C1859161 semapv:UnspecifiedMatching MONDO:0008968 cholestasis with gallstone, ataxia, and visual disturbance skos:exactMatch mesh:C565856 semapv:UnspecifiedMatching MONDO:0008969 cholesterol pneumonia skos:exactMatch MEDGEN:154291 semapv:UnspecifiedMatching MONDO:0008969 cholesterol pneumonia skos:exactMatch OMIM:215030 cholesterol pneumonia semapv:UnspecifiedMatching MONDO:0008969 cholesterol pneumonia skos:exactMatch SCTID:233728004 semapv:UnspecifiedMatching MONDO:0008969 cholesterol pneumonia skos:exactMatch UMLS:C0549472 semapv:UnspecifiedMatching MONDO:0008969 cholesterol pneumonia skos:exactMatch mesh:C535937 semapv:UnspecifiedMatching MONDO:0008970 chondrodysplasia Blomstrand type skos:exactMatch DOID:0060387 chondrodysplasia Blomstrand type semapv:UnspecifiedMatching MONDO:0008970 chondrodysplasia Blomstrand type skos:exactMatch MEDGEN:395189 semapv:UnspecifiedMatching MONDO:0008970 chondrodysplasia Blomstrand type skos:exactMatch NCIT:C131420 Blomstrand Type Chondrodysplasia semapv:UnspecifiedMatching MONDO:0008970 chondrodysplasia Blomstrand type skos:exactMatch OMIM:215045 chondrodysplasia, blomstrand type semapv:UnspecifiedMatching MONDO:0008970 chondrodysplasia Blomstrand type skos:exactMatch Orphanet:50945 Blomstrand lethal chondrodysplasia semapv:UnspecifiedMatching MONDO:0008970 chondrodysplasia Blomstrand type skos:exactMatch UMLS:C1859148 semapv:UnspecifiedMatching MONDO:0008970 chondrodysplasia Blomstrand type skos:exactMatch mesh:C537914 semapv:UnspecifiedMatching MONDO:0008971 chondrodysplasia calcificans Metaphysealis skos:exactMatch MEDGEN:347809 semapv:UnspecifiedMatching MONDO:0008971 chondrodysplasia calcificans Metaphysealis skos:exactMatch OMIM:215050 chondrodysplasia calcificans metaphysealis semapv:UnspecifiedMatching MONDO:0008971 chondrodysplasia calcificans Metaphysealis skos:exactMatch UMLS:C1859147 semapv:UnspecifiedMatching MONDO:0008971 chondrodysplasia calcificans Metaphysealis skos:exactMatch mesh:C565855 semapv:UnspecifiedMatching MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 skos:exactMatch DOID:0110851 rhizomelic chondrodysplasia punctata type 1 semapv:UnspecifiedMatching MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 skos:exactMatch MEDGEN:347072 semapv:UnspecifiedMatching MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 skos:exactMatch OMIM:215100 rhizomelic chondrodysplasia punctata, type 1 semapv:UnspecifiedMatching MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 skos:exactMatch Orphanet:309789 Rhizomelic chondrodysplasia punctata type 1 semapv:UnspecifiedMatching MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 skos:exactMatch UMLS:C1859133 semapv:UnspecifiedMatching MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 skos:exactMatch icd11.foundation:44503513 Rhizomelic chondrodysplasia punctata type 1 semapv:UnspecifiedMatching MONDO:0008973 chondrodysplasia punctata, Toriello type skos:exactMatch MEDGEN:347071 semapv:UnspecifiedMatching MONDO:0008973 chondrodysplasia punctata, Toriello type skos:exactMatch OMIM:215105 chondrodysplasia punctata syndrome semapv:UnspecifiedMatching MONDO:0008973 chondrodysplasia punctata, Toriello type skos:exactMatch Orphanet:79347 Chondrodysplasia punctata, Toriello type semapv:UnspecifiedMatching MONDO:0008973 chondrodysplasia punctata, Toriello type skos:exactMatch SCTID:715631005 semapv:UnspecifiedMatching MONDO:0008973 chondrodysplasia punctata, Toriello type skos:exactMatch UMLS:C1859132 semapv:UnspecifiedMatching MONDO:0008973 chondrodysplasia punctata, Toriello type skos:exactMatch icd11.foundation:1167798993 Chondrodysplasia punctata, Toriello type semapv:UnspecifiedMatching MONDO:0008973 chondrodysplasia punctata, Toriello type skos:exactMatch mesh:C565853 semapv:UnspecifiedMatching MONDO:0008974 Greenberg dysplasia skos:exactMatch DOID:0111588 Greenberg dysplasia semapv:UnspecifiedMatching MONDO:0008974 Greenberg dysplasia skos:exactMatch MEDGEN:418969 semapv:UnspecifiedMatching MONDO:0008974 Greenberg dysplasia skos:exactMatch OMIM:215140 greenberg dysplasia semapv:UnspecifiedMatching MONDO:0008974 Greenberg dysplasia skos:exactMatch Orphanet:1426 Greenberg dysplasia semapv:UnspecifiedMatching MONDO:0008974 Greenberg dysplasia skos:exactMatch SCTID:389261002 semapv:UnspecifiedMatching MONDO:0008974 Greenberg dysplasia skos:exactMatch UMLS:C2931048 semapv:UnspecifiedMatching MONDO:0008974 Greenberg dysplasia skos:exactMatch icd11.foundation:1858458540 Greenberg dysplasia semapv:UnspecifiedMatching MONDO:0008974 Greenberg dysplasia skos:exactMatch mesh:C535858 semapv:UnspecifiedMatching MONDO:0008975 otospondylomegaepiphyseal dysplasia skos:exactMatch DOID:0080026 otospondylomegaepiphyseal dysplasia, autosomal recessive semapv:UnspecifiedMatching MONDO:0008975 otospondylomegaepiphyseal dysplasia skos:exactMatch MEDGEN:1617409 semapv:UnspecifiedMatching MONDO:0008975 otospondylomegaepiphyseal dysplasia skos:exactMatch OMIMPS:184840 Otospondylomegaepiphyseal dysplasia semapv:UnspecifiedMatching MONDO:0008975 otospondylomegaepiphyseal dysplasia skos:exactMatch Orphanet:1427 Autosomal recessive otospondylomegaepiphyseal dysplasia semapv:UnspecifiedMatching MONDO:0008975 otospondylomegaepiphyseal dysplasia skos:exactMatch SCTID:254060000 semapv:UnspecifiedMatching MONDO:0008975 otospondylomegaepiphyseal dysplasia skos:exactMatch UMLS:C4520892 semapv:UnspecifiedMatching MONDO:0008975 otospondylomegaepiphyseal dysplasia skos:exactMatch icd11.foundation:1885284987 Otospondylomegaepiphyseal dysplasia semapv:UnspecifiedMatching MONDO:0008976 chondroitin-6-sulfaturia, defective cellular immunity, nephrotic syndrome skos:exactMatch MEDGEN:349095 semapv:UnspecifiedMatching MONDO:0008976 chondroitin-6-sulfaturia, defective cellular immunity, nephrotic syndrome skos:exactMatch OMIM:215250 chondroitin-6-sulfaturia, defective cellular immunity, nephrotic syndrome semapv:UnspecifiedMatching MONDO:0008976 chondroitin-6-sulfaturia, defective cellular immunity, nephrotic syndrome skos:exactMatch UMLS:C1859104 semapv:UnspecifiedMatching MONDO:0008976 chondroitin-6-sulfaturia, defective cellular immunity, nephrotic syndrome skos:exactMatch mesh:C565852 semapv:UnspecifiedMatching MONDO:0008977 chondrosarcoma skos:exactMatch DOID:3371 chondrosarcoma semapv:UnspecifiedMatching MONDO:0008977 chondrosarcoma skos:exactMatch EFO:0000333 semapv:UnspecifiedMatching MONDO:0008977 chondrosarcoma skos:exactMatch MEDGEN:3054 semapv:UnspecifiedMatching MONDO:0008977 chondrosarcoma skos:exactMatch NCIT:C2946 Chondrosarcoma semapv:UnspecifiedMatching MONDO:0008977 chondrosarcoma skos:exactMatch OMIM:215300 chondrosarcoma semapv:UnspecifiedMatching MONDO:0008977 chondrosarcoma skos:exactMatch Orphanet:55880 Chondrosarcoma semapv:UnspecifiedMatching MONDO:0008977 chondrosarcoma skos:exactMatch SCTID:443520009 semapv:UnspecifiedMatching MONDO:0008977 chondrosarcoma skos:exactMatch UMLS:C0008479 semapv:UnspecifiedMatching MONDO:0008977 chondrosarcoma skos:exactMatch mesh:D002813 semapv:UnspecifiedMatching MONDO:0008978 chordoma skos:exactMatch DOID:3302 chordoma semapv:UnspecifiedMatching MONDO:0008978 chordoma skos:exactMatch MEDGEN:40277 semapv:UnspecifiedMatching MONDO:0008978 chordoma skos:exactMatch NCIT:C2947 Chordoma semapv:UnspecifiedMatching MONDO:0008978 chordoma skos:exactMatch OMIM:215400 chordoma, susceptibility to semapv:UnspecifiedMatching MONDO:0008978 chordoma skos:exactMatch Orphanet:178 Chordoma semapv:UnspecifiedMatching MONDO:0008978 chordoma skos:exactMatch UMLS:C0008487 semapv:UnspecifiedMatching MONDO:0008978 chordoma skos:exactMatch icd11.foundation:898231522 Chordoma semapv:UnspecifiedMatching MONDO:0008978 chordoma skos:exactMatch mesh:D002817 semapv:UnspecifiedMatching MONDO:0008979 chorea, benign familial skos:exactMatch MEDGEN:347799 semapv:UnspecifiedMatching MONDO:0008979 chorea, benign familial skos:exactMatch OMIM:215450 chorea, benign familial semapv:UnspecifiedMatching MONDO:0008979 chorea, benign familial skos:exactMatch UMLS:C1859098 semapv:UnspecifiedMatching MONDO:0008979 chorea, benign familial skos:exactMatch mesh:C565851 semapv:UnspecifiedMatching MONDO:0008980 ataxia-hypogonadism-choroidal dystrophy syndrome skos:exactMatch DOID:0111265 Boucher-Neuhauser syndrome semapv:UnspecifiedMatching MONDO:0008980 ataxia-hypogonadism-choroidal dystrophy syndrome skos:exactMatch MEDGEN:347798 semapv:UnspecifiedMatching MONDO:0008980 ataxia-hypogonadism-choroidal dystrophy syndrome skos:exactMatch OMIM:215470 boucher-neuhauser syndrome semapv:UnspecifiedMatching MONDO:0008980 ataxia-hypogonadism-choroidal dystrophy syndrome skos:exactMatch Orphanet:1180 Ataxia-hypogonadism-choroidal dystrophy syndrome semapv:UnspecifiedMatching MONDO:0008980 ataxia-hypogonadism-choroidal dystrophy syndrome skos:exactMatch SCTID:715984007 semapv:UnspecifiedMatching MONDO:0008980 ataxia-hypogonadism-choroidal dystrophy syndrome skos:exactMatch UMLS:C1859093 semapv:UnspecifiedMatching MONDO:0008980 ataxia-hypogonadism-choroidal dystrophy syndrome skos:exactMatch mesh:C565850 semapv:UnspecifiedMatching MONDO:0008981 infantile choroidocerebral calcification syndrome skos:exactMatch MEDGEN:395174 semapv:UnspecifiedMatching MONDO:0008981 infantile choroidocerebral calcification syndrome skos:exactMatch OMIM:215480 choroid plexus calcification and impaired intellectual development semapv:UnspecifiedMatching MONDO:0008981 infantile choroidocerebral calcification syndrome skos:exactMatch Orphanet:1313 Infantile choroidocerebral calcification syndrome semapv:UnspecifiedMatching MONDO:0008981 infantile choroidocerebral calcification syndrome skos:exactMatch SCTID:724228005 semapv:UnspecifiedMatching MONDO:0008981 infantile choroidocerebral calcification syndrome skos:exactMatch UMLS:C1859092 semapv:UnspecifiedMatching MONDO:0008981 infantile choroidocerebral calcification syndrome skos:exactMatch mesh:C535357 semapv:UnspecifiedMatching MONDO:0008982 central areolar choroidal dystrophy skos:exactMatch ICD10CM:H31.22 Choroidal dystrophy (central areolar) (generalized) (peripapillary) semapv:UnspecifiedMatching MONDO:0008982 central areolar choroidal dystrophy skos:exactMatch MEDGEN:283932 semapv:UnspecifiedMatching MONDO:0008982 central areolar choroidal dystrophy skos:exactMatch OMIMPS:215500 Choroidal dystrophy, central areolar semapv:UnspecifiedMatching MONDO:0008982 central areolar choroidal dystrophy skos:exactMatch Orphanet:75377 Central areolar choroidal dystrophy semapv:UnspecifiedMatching MONDO:0008982 central areolar choroidal dystrophy skos:exactMatch SCTID:231996009 semapv:UnspecifiedMatching MONDO:0008982 central areolar choroidal dystrophy skos:exactMatch SCTID:312918002 semapv:UnspecifiedMatching MONDO:0008982 central areolar choroidal dystrophy skos:exactMatch UMLS:C1536451 semapv:UnspecifiedMatching MONDO:0008982 central areolar choroidal dystrophy skos:exactMatch icd11.foundation:2018537024 Central areolar choroidal dystrophy semapv:UnspecifiedMatching MONDO:0008983 chromosomal instability with tissue-specific radiosensitivity skos:exactMatch MEDGEN:347797 semapv:UnspecifiedMatching MONDO:0008983 chromosomal instability with tissue-specific radiosensitivity skos:exactMatch OMIM:215510 chromosomal instability with tissue-specific radiosensitivity semapv:UnspecifiedMatching MONDO:0008983 chromosomal instability with tissue-specific radiosensitivity skos:exactMatch UMLS:C1859091 semapv:UnspecifiedMatching MONDO:0008983 chromosomal instability with tissue-specific radiosensitivity skos:exactMatch mesh:C565848 semapv:UnspecifiedMatching MONDO:0008984 ciliary discoordination due to random ciliary orientation skos:exactMatch MEDGEN:83299 semapv:UnspecifiedMatching MONDO:0008984 ciliary discoordination due to random ciliary orientation skos:exactMatch OMIM:215518 ciliary discoordination due to random ciliary orientation semapv:UnspecifiedMatching MONDO:0008984 ciliary discoordination due to random ciliary orientation skos:exactMatch SCTID:233667003 semapv:UnspecifiedMatching MONDO:0008984 ciliary discoordination due to random ciliary orientation skos:exactMatch UMLS:C0340038 semapv:UnspecifiedMatching MONDO:0008984 ciliary discoordination due to random ciliary orientation skos:exactMatch mesh:C562757 semapv:UnspecifiedMatching MONDO:0008985 ciliary dyskinesia with transposition of ciliary microtubules skos:exactMatch MEDGEN:388736 semapv:UnspecifiedMatching MONDO:0008985 ciliary dyskinesia with transposition of ciliary microtubules skos:exactMatch OMIM:215520 ciliary dyskinesia with transposition of ciliary microtubules semapv:UnspecifiedMatching MONDO:0008985 ciliary dyskinesia with transposition of ciliary microtubules skos:exactMatch UMLS:C2673817 semapv:UnspecifiedMatching MONDO:0008985 ciliary dyskinesia with transposition of ciliary microtubules skos:exactMatch mesh:C567137 semapv:UnspecifiedMatching MONDO:0008986 circumvallate placenta syndrome skos:exactMatch MEDGEN:347062 semapv:UnspecifiedMatching MONDO:0008986 circumvallate placenta syndrome skos:exactMatch OMIM:215550 circumvallate placenta syndrome semapv:UnspecifiedMatching MONDO:0008986 circumvallate placenta syndrome skos:exactMatch UMLS:C1859089 semapv:UnspecifiedMatching MONDO:0008986 circumvallate placenta syndrome skos:exactMatch mesh:C565847 semapv:UnspecifiedMatching MONDO:0008988 citrullinemia type I skos:exactMatch DOID:0070340 classic citrullinemia semapv:UnspecifiedMatching MONDO:0008988 citrullinemia type I skos:exactMatch MEDGEN:1648491 semapv:UnspecifiedMatching MONDO:0008988 citrullinemia type I skos:exactMatch NCIT:C150601 Citrullinemia Type I semapv:UnspecifiedMatching MONDO:0008988 citrullinemia type I skos:exactMatch OMIM:215700 citrullinemia, classic semapv:UnspecifiedMatching MONDO:0008988 citrullinemia type I skos:exactMatch Orphanet:247525 Citrullinemia type I semapv:UnspecifiedMatching MONDO:0008988 citrullinemia type I skos:exactMatch SCTID:398680004 semapv:UnspecifiedMatching MONDO:0008988 citrullinemia type I skos:exactMatch UMLS:C4721769 semapv:UnspecifiedMatching MONDO:0008989 citrulline transport defect skos:exactMatch MEDGEN:349092 semapv:UnspecifiedMatching MONDO:0008989 citrulline transport defect skos:exactMatch OMIM:215720 citrulline transport defect semapv:UnspecifiedMatching MONDO:0008989 citrulline transport defect skos:exactMatch UMLS:C1859084 semapv:UnspecifiedMatching MONDO:0008989 citrulline transport defect skos:exactMatch mesh:C536207 semapv:UnspecifiedMatching MONDO:0008990 cleft larynx, posterior skos:exactMatch MEDGEN:349091 semapv:UnspecifiedMatching MONDO:0008990 cleft larynx, posterior skos:exactMatch OMIM:215800 cleft larynx, posterior semapv:UnspecifiedMatching MONDO:0008990 cleft larynx, posterior skos:exactMatch UMLS:C1859083 semapv:UnspecifiedMatching MONDO:0008990 cleft larynx, posterior skos:exactMatch mesh:C537851 semapv:UnspecifiedMatching MONDO:0008991 Verloove Vanhorick-Brubakk syndrome skos:exactMatch MEDGEN:395171 semapv:UnspecifiedMatching MONDO:0008991 Verloove Vanhorick-Brubakk syndrome skos:exactMatch OMIM:215850 cleft-limb-heart malformation syndrome semapv:UnspecifiedMatching MONDO:0008991 Verloove Vanhorick-Brubakk syndrome skos:exactMatch Orphanet:3429 Verloove Vanhorick-Brubakk syndrome semapv:UnspecifiedMatching MONDO:0008991 Verloove Vanhorick-Brubakk syndrome skos:exactMatch SCTID:764697003 semapv:UnspecifiedMatching MONDO:0008991 Verloove Vanhorick-Brubakk syndrome skos:exactMatch UMLS:C1859082 semapv:UnspecifiedMatching MONDO:0008991 Verloove Vanhorick-Brubakk syndrome skos:exactMatch mesh:C536541 semapv:UnspecifiedMatching MONDO:0008992 Juberg-Hayward syndrome skos:exactMatch MEDGEN:162906 semapv:UnspecifiedMatching MONDO:0008992 Juberg-Hayward syndrome skos:exactMatch OMIM:216100 juberg-hayward syndrome semapv:UnspecifiedMatching MONDO:0008992 Juberg-Hayward syndrome skos:exactMatch Orphanet:2319 Juberg-Hayward syndrome semapv:UnspecifiedMatching MONDO:0008992 Juberg-Hayward syndrome skos:exactMatch SCTID:721874001 semapv:UnspecifiedMatching MONDO:0008992 Juberg-Hayward syndrome skos:exactMatch UMLS:C0796099 semapv:UnspecifiedMatching MONDO:0008992 Juberg-Hayward syndrome skos:exactMatch icd11.foundation:395922030 Juberg-Hayward syndrome semapv:UnspecifiedMatching MONDO:0008992 Juberg-Hayward syndrome skos:exactMatch mesh:C537690 semapv:UnspecifiedMatching MONDO:0008993 cleft palate-stapes fixation-oligodontia syndrome skos:exactMatch MEDGEN:347795 semapv:UnspecifiedMatching MONDO:0008993 cleft palate-stapes fixation-oligodontia syndrome skos:exactMatch OMIM:216300 cleft palate, deafness, and oligodontia semapv:UnspecifiedMatching MONDO:0008993 cleft palate-stapes fixation-oligodontia syndrome skos:exactMatch Orphanet:2010 Cleft palate-stapes fixation-oligodontia syndrome semapv:UnspecifiedMatching MONDO:0008993 cleft palate-stapes fixation-oligodontia syndrome skos:exactMatch UMLS:C1859081 semapv:UnspecifiedMatching MONDO:0008993 cleft palate-stapes fixation-oligodontia syndrome skos:exactMatch mesh:C565844 semapv:UnspecifiedMatching MONDO:0008994 cleidocranial dysplasia, recessive form skos:exactMatch MEDGEN:395170 semapv:UnspecifiedMatching MONDO:0008994 cleidocranial dysplasia, recessive form skos:exactMatch OMIM:216330 cleidocranial dysplasia, recessive form semapv:UnspecifiedMatching MONDO:0008994 cleidocranial dysplasia, recessive form skos:exactMatch UMLS:C1859080 semapv:UnspecifiedMatching MONDO:0008994 cleidocranial dysplasia, recessive form skos:exactMatch mesh:C565843 semapv:UnspecifiedMatching MONDO:0008995 Yunis-Varon syndrome skos:exactMatch DOID:0060589 Yunis-Varon syndrome semapv:UnspecifiedMatching MONDO:0008995 Yunis-Varon syndrome skos:exactMatch MEDGEN:341818 semapv:UnspecifiedMatching MONDO:0008995 Yunis-Varon syndrome skos:exactMatch OMIM:216340 yunis-varon syndrome semapv:UnspecifiedMatching MONDO:0008995 Yunis-Varon syndrome skos:exactMatch Orphanet:3472 Yunis-Varon syndrome semapv:UnspecifiedMatching MONDO:0008995 Yunis-Varon syndrome skos:exactMatch UMLS:C1857663 semapv:UnspecifiedMatching MONDO:0008995 Yunis-Varon syndrome skos:exactMatch icd11.foundation:1696991249 Yunis-Varon disease semapv:UnspecifiedMatching MONDO:0008995 Yunis-Varon syndrome skos:exactMatch mesh:C536719 semapv:UnspecifiedMatching MONDO:0008998 Cockayne syndrome type 3 skos:exactMatch MEDGEN:196713 semapv:UnspecifiedMatching MONDO:0008998 Cockayne syndrome type 3 skos:exactMatch Orphanet:90324 Cockayne syndrome type 3 semapv:UnspecifiedMatching MONDO:0008998 Cockayne syndrome type 3 skos:exactMatch UMLS:C0751037 semapv:UnspecifiedMatching MONDO:0008998 Cockayne syndrome type 3 skos:exactMatch icd11.foundation:1401163130 Cockayne syndrome type 3 semapv:UnspecifiedMatching MONDO:0008999 Cohen syndrome skos:exactMatch DOID:0111590 Cohen syndrome semapv:UnspecifiedMatching MONDO:0008999 Cohen syndrome skos:exactMatch MEDGEN:78539 semapv:UnspecifiedMatching MONDO:0008999 Cohen syndrome skos:exactMatch OMIM:216550 cohen syndrome semapv:UnspecifiedMatching MONDO:0008999 Cohen syndrome skos:exactMatch Orphanet:193 Cohen syndrome semapv:UnspecifiedMatching MONDO:0008999 Cohen syndrome skos:exactMatch SCTID:56604005 semapv:UnspecifiedMatching MONDO:0008999 Cohen syndrome skos:exactMatch UMLS:C0265223 semapv:UnspecifiedMatching MONDO:0008999 Cohen syndrome skos:exactMatch icd11.foundation:1188737383 Cohen syndrome semapv:UnspecifiedMatching MONDO:0008999 Cohen syndrome skos:exactMatch mesh:C536438 semapv:UnspecifiedMatching MONDO:0009000 familial reactive perforating collagenosis skos:exactMatch MEDGEN:347504 semapv:UnspecifiedMatching MONDO:0009000 familial reactive perforating collagenosis skos:exactMatch OMIM:216700 collagenosis, familial reactive perforating semapv:UnspecifiedMatching MONDO:0009000 familial reactive perforating collagenosis skos:exactMatch Orphanet:79147 Familial reactive perforating collagenosis semapv:UnspecifiedMatching MONDO:0009000 familial reactive perforating collagenosis skos:exactMatch UMLS:C1857624 semapv:UnspecifiedMatching MONDO:0009000 familial reactive perforating collagenosis skos:exactMatch icd11.foundation:563155724 Familial reactive perforating collagenosis semapv:UnspecifiedMatching MONDO:0009000 familial reactive perforating collagenosis skos:exactMatch mesh:C565687 semapv:UnspecifiedMatching MONDO:0009001 macular coloboma-cleft palate-hallux valgus syndrome skos:exactMatch MEDGEN:341812 semapv:UnspecifiedMatching MONDO:0009001 macular coloboma-cleft palate-hallux valgus syndrome skos:exactMatch OMIM:216800 coloboma of macula and skeletal anomalies semapv:UnspecifiedMatching MONDO:0009001 macular coloboma-cleft palate-hallux valgus syndrome skos:exactMatch Orphanet:91494 Macular coloboma-cleft palate-hallux valgus syndrome semapv:UnspecifiedMatching MONDO:0009001 macular coloboma-cleft palate-hallux valgus syndrome skos:exactMatch SCTID:722463001 semapv:UnspecifiedMatching MONDO:0009001 macular coloboma-cleft palate-hallux valgus syndrome skos:exactMatch UMLS:C1857619 semapv:UnspecifiedMatching MONDO:0009001 macular coloboma-cleft palate-hallux valgus syndrome skos:exactMatch mesh:C565686 semapv:UnspecifiedMatching MONDO:0009002 coloboma, ocular, autosomal recessive skos:exactMatch MEDGEN:860411 semapv:UnspecifiedMatching MONDO:0009002 coloboma, ocular, autosomal recessive skos:exactMatch OMIM:216820 coloboma, ocular, autosomal recessive semapv:UnspecifiedMatching MONDO:0009002 coloboma, ocular, autosomal recessive skos:exactMatch UMLS:C4011974 semapv:UnspecifiedMatching MONDO:0009003 achromatopsia 2 skos:exactMatch DOID:0110007 achromatopsia 2 semapv:UnspecifiedMatching MONDO:0009003 achromatopsia 2 skos:exactMatch MEDGEN:387867 semapv:UnspecifiedMatching MONDO:0009003 achromatopsia 2 skos:exactMatch NCIT:C168757 Achromatopsia 2 semapv:UnspecifiedMatching MONDO:0009003 achromatopsia 2 skos:exactMatch OMIM:216900 achromatopsia 2 semapv:UnspecifiedMatching MONDO:0009003 achromatopsia 2 skos:exactMatch UMLS:C1857618 semapv:UnspecifiedMatching MONDO:0009003 achromatopsia 2 skos:exactMatch mesh:C536128 semapv:UnspecifiedMatching MONDO:0009005 complement component C1r/C1s deficiency skos:exactMatch MEDGEN:461624 semapv:UnspecifiedMatching MONDO:0009005 complement component C1r/C1s deficiency skos:exactMatch NCIT:C119991 C1r/C1s Deficiency semapv:UnspecifiedMatching MONDO:0009005 complement component C1r/C1s deficiency skos:exactMatch OMIM:216950 complement component c1r/c1s deficiency semapv:UnspecifiedMatching MONDO:0009005 complement component C1r/C1s deficiency skos:exactMatch UMLS:C3150274 semapv:UnspecifiedMatching MONDO:0009005 complement component C1r/C1s deficiency skos:exactMatch icd11.foundation:448435460 Complement component C1r/C1s deficiency semapv:UnspecifiedMatching MONDO:0009006 complement component 2 deficiency skos:exactMatch DOID:0060295 complement component 2 deficiency semapv:UnspecifiedMatching MONDO:0009006 complement component 2 deficiency skos:exactMatch MEDGEN:585060 semapv:UnspecifiedMatching MONDO:0009006 complement component 2 deficiency skos:exactMatch NCIT:C119992 C2 Deficiency semapv:UnspecifiedMatching MONDO:0009006 complement component 2 deficiency skos:exactMatch OMIM:217000 complement component 2 deficiency semapv:UnspecifiedMatching MONDO:0009006 complement component 2 deficiency skos:exactMatch UMLS:C0398756 semapv:UnspecifiedMatching MONDO:0009007 Jalili syndrome skos:exactMatch DOID:0111404 Jalili syndrome semapv:UnspecifiedMatching MONDO:0009007 Jalili syndrome skos:exactMatch MEDGEN:501210 semapv:UnspecifiedMatching MONDO:0009007 Jalili syndrome skos:exactMatch OMIM:217080 jalili syndrome semapv:UnspecifiedMatching MONDO:0009007 Jalili syndrome skos:exactMatch Orphanet:1873 Jalili syndrome semapv:UnspecifiedMatching MONDO:0009007 Jalili syndrome skos:exactMatch SCTID:707608003 semapv:UnspecifiedMatching MONDO:0009007 Jalili syndrome skos:exactMatch UMLS:C3495589 semapv:UnspecifiedMatching MONDO:0009007 Jalili syndrome skos:exactMatch mesh:C000596385 semapv:UnspecifiedMatching MONDO:0009008 heart defect - tongue hamartoma - polysyndactyly syndrome skos:exactMatch DOID:0111591 congenital heart defects, hamartomas of tongue, and polysyndactyly semapv:UnspecifiedMatching MONDO:0009008 heart defect - tongue hamartoma - polysyndactyly syndrome skos:exactMatch MEDGEN:341804 semapv:UnspecifiedMatching MONDO:0009008 heart defect - tongue hamartoma - polysyndactyly syndrome skos:exactMatch OMIM:217085 congenital heart defects, hamartomas of tongue, and polysyndactyly semapv:UnspecifiedMatching MONDO:0009008 heart defect - tongue hamartoma - polysyndactyly syndrome skos:exactMatch Orphanet:1338 Heart defect-tongue hamartoma-polysyndactyly syndrome semapv:UnspecifiedMatching MONDO:0009008 heart defect - tongue hamartoma - polysyndactyly syndrome skos:exactMatch UMLS:C1857587 semapv:UnspecifiedMatching MONDO:0009008 heart defect - tongue hamartoma - polysyndactyly syndrome skos:exactMatch mesh:C535849 semapv:UnspecifiedMatching MONDO:0009009 hypoplasminogenemia skos:exactMatch DOID:0111592 plasminogen deficiency type I semapv:UnspecifiedMatching MONDO:0009009 hypoplasminogenemia skos:exactMatch MEDGEN:369859 semapv:UnspecifiedMatching MONDO:0009009 hypoplasminogenemia skos:exactMatch OMIM:217090 plasminogen deficiency, type 1 semapv:UnspecifiedMatching MONDO:0009009 hypoplasminogenemia skos:exactMatch Orphanet:722 Hypoplasminogenemia semapv:UnspecifiedMatching MONDO:0009009 hypoplasminogenemia skos:exactMatch SCTID:95840007 semapv:UnspecifiedMatching MONDO:0009009 hypoplasminogenemia skos:exactMatch UMLS:C1968804 semapv:UnspecifiedMatching MONDO:0009009 hypoplasminogenemia skos:exactMatch icd11.foundation:1240776230 Hypoplasminogenaemia semapv:UnspecifiedMatching MONDO:0009009 hypoplasminogenemia skos:exactMatch mesh:C580017 semapv:UnspecifiedMatching MONDO:0009010 aortic arch interruption skos:exactMatch ICD10CM:Q25.21 Interruption of aortic arch semapv:UnspecifiedMatching MONDO:0009010 aortic arch interruption skos:exactMatch MEDGEN:57773 semapv:UnspecifiedMatching MONDO:0009010 aortic arch interruption skos:exactMatch Orphanet:2299 Aortic arch interruption semapv:UnspecifiedMatching MONDO:0009010 aortic arch interruption skos:exactMatch UMLS:C0152419 semapv:UnspecifiedMatching MONDO:0009010 aortic arch interruption skos:exactMatch icd11.foundation:1769930414 Interrupted aortic arch semapv:UnspecifiedMatching MONDO:0009012 multiple pterygium-malignant hyperthermia syndrome skos:exactMatch MEDGEN:347490 semapv:UnspecifiedMatching MONDO:0009012 multiple pterygium-malignant hyperthermia syndrome skos:exactMatch OMIM:217150 contractures, congenital, torticollis, and malignant hyperthermia semapv:UnspecifiedMatching MONDO:0009012 multiple pterygium-malignant hyperthermia syndrome skos:exactMatch Orphanet:2215 Multiple pterygium-malignant hyperthermia syndrome semapv:UnspecifiedMatching MONDO:0009012 multiple pterygium-malignant hyperthermia syndrome skos:exactMatch UMLS:C1857576 semapv:UnspecifiedMatching MONDO:0009012 multiple pterygium-malignant hyperthermia syndrome skos:exactMatch mesh:C565679 semapv:UnspecifiedMatching MONDO:0009013 convulsive disorder, familial, with prenatal or early onset skos:exactMatch MEDGEN:387859 semapv:UnspecifiedMatching MONDO:0009013 convulsive disorder, familial, with prenatal or early onset skos:exactMatch OMIM:217200 convulsive disorder, familial, with prenatal or early onset semapv:UnspecifiedMatching MONDO:0009013 convulsive disorder, familial, with prenatal or early onset skos:exactMatch UMLS:C1857575 semapv:UnspecifiedMatching MONDO:0009013 convulsive disorder, familial, with prenatal or early onset skos:exactMatch mesh:C565678 semapv:UnspecifiedMatching MONDO:0009014 cornea plana 2 skos:exactMatch MEDGEN:346616 semapv:UnspecifiedMatching MONDO:0009014 cornea plana 2 skos:exactMatch OMIM:217300 cornea plana 2, autosomal recessive semapv:UnspecifiedMatching MONDO:0009014 cornea plana 2 skos:exactMatch UMLS:C1857574 semapv:UnspecifiedMatching MONDO:0009014 cornea plana 2 skos:exactMatch mesh:C565677 semapv:UnspecifiedMatching MONDO:0009015 corneal dystrophy-perceptive deafness syndrome skos:exactMatch DOID:0111620 corneal dystrophy-perceptive deafness syndrome semapv:UnspecifiedMatching MONDO:0009015 corneal dystrophy-perceptive deafness syndrome skos:exactMatch MEDGEN:387858 semapv:UnspecifiedMatching MONDO:0009015 corneal dystrophy-perceptive deafness syndrome skos:exactMatch OMIM:217400 corneal dystrophy and perceptive deafness semapv:UnspecifiedMatching MONDO:0009015 corneal dystrophy-perceptive deafness syndrome skos:exactMatch Orphanet:1490 Corneal dystrophy-perceptive deafness syndrome semapv:UnspecifiedMatching MONDO:0009015 corneal dystrophy-perceptive deafness syndrome skos:exactMatch SCTID:720749004 semapv:UnspecifiedMatching MONDO:0009015 corneal dystrophy-perceptive deafness syndrome skos:exactMatch UMLS:C1857572 semapv:UnspecifiedMatching MONDO:0009015 corneal dystrophy-perceptive deafness syndrome skos:exactMatch mesh:C535473 semapv:UnspecifiedMatching MONDO:0009016 band keratopathy skos:exactMatch DOID:11164 band keratopathy semapv:UnspecifiedMatching MONDO:0009016 band keratopathy skos:exactMatch ICD10CM:H18.42 Band keratopathy semapv:UnspecifiedMatching MONDO:0009016 band keratopathy skos:exactMatch MEDGEN:56354 semapv:UnspecifiedMatching MONDO:0009016 band keratopathy skos:exactMatch NCIT:C118765 Band Keratopathy semapv:UnspecifiedMatching MONDO:0009016 band keratopathy skos:exactMatch OMIM:217500 corneal dystrophy, band-shaped semapv:UnspecifiedMatching MONDO:0009016 band keratopathy skos:exactMatch SCTID:35055000 semapv:UnspecifiedMatching MONDO:0009016 band keratopathy skos:exactMatch UMLS:C0155120 semapv:UnspecifiedMatching MONDO:0009016 band keratopathy skos:exactMatch icd11.foundation:184627034 Band keratopathy semapv:UnspecifiedMatching MONDO:0009016 band keratopathy skos:exactMatch mesh:C562399 semapv:UnspecifiedMatching MONDO:0009017 corneal degeneration, band-shaped spheroid skos:exactMatch MEDGEN:347489 semapv:UnspecifiedMatching MONDO:0009017 corneal degeneration, band-shaped spheroid skos:exactMatch OMIM:217520 corneal degeneration, band-shaped spheroid semapv:UnspecifiedMatching MONDO:0009017 corneal degeneration, band-shaped spheroid skos:exactMatch UMLS:C1857571 semapv:UnspecifiedMatching MONDO:0009018 central cloudy dystrophy of François skos:exactMatch MEDGEN:302006 semapv:UnspecifiedMatching MONDO:0009018 central cloudy dystrophy of François skos:exactMatch OMIM:217600 central cloudy dystrophy of francois semapv:UnspecifiedMatching MONDO:0009018 central cloudy dystrophy of François skos:exactMatch Orphanet:98972 Central cloudy dystrophy of François semapv:UnspecifiedMatching MONDO:0009018 central cloudy dystrophy of François skos:exactMatch SCTID:419074008 semapv:UnspecifiedMatching MONDO:0009018 central cloudy dystrophy of François skos:exactMatch UMLS:C1622427 semapv:UnspecifiedMatching MONDO:0009018 central cloudy dystrophy of François skos:exactMatch mesh:C563262 semapv:UnspecifiedMatching MONDO:0009019 congenital hereditary endothelial dystrophy of cornea skos:exactMatch DOID:0060649 congenital hereditary endothelial dystrophy of cornea semapv:UnspecifiedMatching MONDO:0009019 congenital hereditary endothelial dystrophy of cornea skos:exactMatch MEDGEN:387857 semapv:UnspecifiedMatching MONDO:0009019 congenital hereditary endothelial dystrophy of cornea skos:exactMatch OMIM:217700 corneal endothelial dystrophy semapv:UnspecifiedMatching MONDO:0009019 congenital hereditary endothelial dystrophy of cornea skos:exactMatch Orphanet:293603 Congenital hereditary endothelial dystrophy type II semapv:UnspecifiedMatching MONDO:0009019 congenital hereditary endothelial dystrophy of cornea skos:exactMatch UMLS:C1857569 semapv:UnspecifiedMatching MONDO:0009019 congenital hereditary endothelial dystrophy of cornea skos:exactMatch mesh:C536439 semapv:UnspecifiedMatching MONDO:0009020 macular corneal dystrophy skos:exactMatch DOID:2565 macular corneal dystrophy semapv:UnspecifiedMatching MONDO:0009020 macular corneal dystrophy skos:exactMatch ICD10CM:H18.55 Macular corneal dystrophy semapv:UnspecifiedMatching MONDO:0009020 macular corneal dystrophy skos:exactMatch MEDGEN:351514 semapv:UnspecifiedMatching MONDO:0009020 macular corneal dystrophy skos:exactMatch NCIT:C34793 Macular Corneal Dystrophy semapv:UnspecifiedMatching MONDO:0009020 macular corneal dystrophy skos:exactMatch OMIM:217800 macular dystrophy, corneal semapv:UnspecifiedMatching MONDO:0009020 macular corneal dystrophy skos:exactMatch Orphanet:98969 Macular corneal dystrophy semapv:UnspecifiedMatching MONDO:0009020 macular corneal dystrophy skos:exactMatch SCTID:60258001 semapv:UnspecifiedMatching MONDO:0009020 macular corneal dystrophy skos:exactMatch UMLS:C1636149 semapv:UnspecifiedMatching MONDO:0009020 macular corneal dystrophy skos:exactMatch icd11.foundation:791344343 Macular corneal dystrophy semapv:UnspecifiedMatching MONDO:0009020 macular corneal dystrophy skos:exactMatch mesh:C537834 semapv:UnspecifiedMatching MONDO:0009021 Toriello-Carey syndrome skos:exactMatch MEDGEN:163225 semapv:UnspecifiedMatching MONDO:0009021 Toriello-Carey syndrome skos:exactMatch OMIM:217980 corpus callosum, agenesis of, with facial anomalies and robin sequence semapv:UnspecifiedMatching MONDO:0009021 Toriello-Carey syndrome skos:exactMatch Orphanet:3338 Toriello-Carey syndrome semapv:UnspecifiedMatching MONDO:0009021 Toriello-Carey syndrome skos:exactMatch SCTID:722477003 semapv:UnspecifiedMatching MONDO:0009021 Toriello-Carey syndrome skos:exactMatch UMLS:C0796184 semapv:UnspecifiedMatching MONDO:0009021 Toriello-Carey syndrome skos:exactMatch icd11.foundation:147297969 Toriello-Carey syndrome semapv:UnspecifiedMatching MONDO:0009021 Toriello-Carey syndrome skos:exactMatch mesh:C563127 semapv:UnspecifiedMatching MONDO:0009022 corpus callosum, agenesis of skos:exactMatch MEDGEN:104498 semapv:UnspecifiedMatching MONDO:0009022 corpus callosum, agenesis of skos:exactMatch NCIT:C98905 Corpus Callosum Agenesis semapv:UnspecifiedMatching MONDO:0009022 corpus callosum, agenesis of skos:exactMatch OMIM:217990 corpus callosum, agenesis of semapv:UnspecifiedMatching MONDO:0009022 corpus callosum, agenesis of skos:exactMatch Orphanet:200 Isolated corpus callosum agenesis semapv:UnspecifiedMatching MONDO:0009022 corpus callosum, agenesis of skos:exactMatch SCTID:5102002 semapv:UnspecifiedMatching MONDO:0009022 corpus callosum, agenesis of skos:exactMatch UMLS:C0175754 semapv:UnspecifiedMatching MONDO:0009022 corpus callosum, agenesis of skos:exactMatch mesh:D061085 semapv:UnspecifiedMatching MONDO:0009024 cortical blindness-intellectual disability-polydactyly syndrome skos:exactMatch MEDGEN:347487 semapv:UnspecifiedMatching MONDO:0009024 cortical blindness-intellectual disability-polydactyly syndrome skos:exactMatch OMIM:218010 cortical blindness, retardation, and postaxial polydactyly semapv:UnspecifiedMatching MONDO:0009024 cortical blindness-intellectual disability-polydactyly syndrome skos:exactMatch Orphanet:1389 Cortical blindness-intellectual disability-polydactyly syndrome semapv:UnspecifiedMatching MONDO:0009024 cortical blindness-intellectual disability-polydactyly syndrome skos:exactMatch UMLS:C1857568 semapv:UnspecifiedMatching MONDO:0009024 cortical blindness-intellectual disability-polydactyly syndrome skos:exactMatch mesh:C565674 semapv:UnspecifiedMatching MONDO:0009025 apparent mineralocorticoid excess skos:exactMatch DOID:4367 apparent mineralocorticoid excess syndrome semapv:UnspecifiedMatching MONDO:0009025 apparent mineralocorticoid excess skos:exactMatch MEDGEN:90983 semapv:UnspecifiedMatching MONDO:0009025 apparent mineralocorticoid excess skos:exactMatch NCIT:C123231 Syndrome of Apparent Mineralocorticoid Excess semapv:UnspecifiedMatching MONDO:0009025 apparent mineralocorticoid excess skos:exactMatch NCIT:C131083 11 Beta-Hydroxysteroid Dehydrogenase Type 2 Deficiency semapv:UnspecifiedMatching MONDO:0009025 apparent mineralocorticoid excess skos:exactMatch OMIM:218030 apparent mineralocorticoid excess semapv:UnspecifiedMatching MONDO:0009025 apparent mineralocorticoid excess skos:exactMatch Orphanet:320 Apparent mineralocorticoid excess semapv:UnspecifiedMatching MONDO:0009025 apparent mineralocorticoid excess skos:exactMatch SCTID:237770005 semapv:UnspecifiedMatching MONDO:0009025 apparent mineralocorticoid excess skos:exactMatch SCTID:703256004 semapv:UnspecifiedMatching MONDO:0009025 apparent mineralocorticoid excess skos:exactMatch UMLS:C0342488 semapv:UnspecifiedMatching MONDO:0009025 apparent mineralocorticoid excess skos:exactMatch icd11.foundation:1737310323 Apparent mineralocorticoid excess semapv:UnspecifiedMatching MONDO:0009025 apparent mineralocorticoid excess skos:exactMatch mesh:C537422 semapv:UnspecifiedMatching MONDO:0009025 apparent mineralocorticoid excess skos:exactMatch mesh:D043204 semapv:UnspecifiedMatching MONDO:0009026 Costello syndrome skos:exactMatch DOID:0050469 Costello syndrome semapv:UnspecifiedMatching MONDO:0009026 Costello syndrome skos:exactMatch MEDGEN:108454 semapv:UnspecifiedMatching MONDO:0009026 Costello syndrome skos:exactMatch NCIT:C84652 Costello Syndrome semapv:UnspecifiedMatching MONDO:0009026 Costello syndrome skos:exactMatch OMIM:218040 costello syndrome semapv:UnspecifiedMatching MONDO:0009026 Costello syndrome skos:exactMatch Orphanet:3071 Costello syndrome semapv:UnspecifiedMatching MONDO:0009026 Costello syndrome skos:exactMatch SCTID:309776008 semapv:UnspecifiedMatching MONDO:0009026 Costello syndrome skos:exactMatch UMLS:C0587248 semapv:UnspecifiedMatching MONDO:0009026 Costello syndrome skos:exactMatch icd11.foundation:1946512039 Costello syndrome semapv:UnspecifiedMatching MONDO:0009026 Costello syndrome skos:exactMatch mesh:D056685 semapv:UnspecifiedMatching MONDO:0009028 Crane-Heise syndrome skos:exactMatch MEDGEN:387847 semapv:UnspecifiedMatching MONDO:0009028 Crane-Heise syndrome skos:exactMatch OMIM:218090 crane-heise syndrome semapv:UnspecifiedMatching MONDO:0009028 Crane-Heise syndrome skos:exactMatch Orphanet:1512 Crane-Heise syndrome semapv:UnspecifiedMatching MONDO:0009028 Crane-Heise syndrome skos:exactMatch SCTID:715991005 semapv:UnspecifiedMatching MONDO:0009028 Crane-Heise syndrome skos:exactMatch UMLS:C1857532 semapv:UnspecifiedMatching MONDO:0009028 Crane-Heise syndrome skos:exactMatch mesh:C536452 semapv:UnspecifiedMatching MONDO:0009029 cranial nerves, congenital paresis of skos:exactMatch MEDGEN:346609 semapv:UnspecifiedMatching MONDO:0009029 cranial nerves, congenital paresis of skos:exactMatch OMIM:218100 cranial nerves, congenital paresis of semapv:UnspecifiedMatching MONDO:0009029 cranial nerves, congenital paresis of skos:exactMatch UMLS:C1857531 semapv:UnspecifiedMatching MONDO:0009029 cranial nerves, congenital paresis of skos:exactMatch mesh:C565673 semapv:UnspecifiedMatching MONDO:0009030 cranial nerves, recurrent paresis of skos:exactMatch MEDGEN:387846 semapv:UnspecifiedMatching MONDO:0009030 cranial nerves, recurrent paresis of skos:exactMatch OMIM:218200 cranial nerves, recurrent paresis of semapv:UnspecifiedMatching MONDO:0009030 cranial nerves, recurrent paresis of skos:exactMatch UMLS:C1857530 semapv:UnspecifiedMatching MONDO:0009030 cranial nerves, recurrent paresis of skos:exactMatch mesh:C565672 semapv:UnspecifiedMatching MONDO:0009031 craniodiaphyseal dysplasia skos:exactMatch DOID:0080032 craniodiaphyseal dysplasia semapv:UnspecifiedMatching MONDO:0009031 craniodiaphyseal dysplasia skos:exactMatch MEDGEN:96080 semapv:UnspecifiedMatching MONDO:0009031 craniodiaphyseal dysplasia skos:exactMatch NCIT:C131429 Craniodiaphyseal Dysplasia semapv:UnspecifiedMatching MONDO:0009031 craniodiaphyseal dysplasia skos:exactMatch OMIM:218300 craniodiaphyseal dysplasia semapv:UnspecifiedMatching MONDO:0009031 craniodiaphyseal dysplasia skos:exactMatch Orphanet:1513 Craniodiaphyseal dysplasia semapv:UnspecifiedMatching MONDO:0009031 craniodiaphyseal dysplasia skos:exactMatch SCTID:205506004 semapv:UnspecifiedMatching MONDO:0009031 craniodiaphyseal dysplasia skos:exactMatch UMLS:C0410539 semapv:UnspecifiedMatching MONDO:0009031 craniodiaphyseal dysplasia skos:exactMatch icd11.foundation:505073582 Craniodiaphyseal dysplasia semapv:UnspecifiedMatching MONDO:0009031 craniodiaphyseal dysplasia skos:exactMatch mesh:C562940 semapv:UnspecifiedMatching MONDO:0009032 cranioectodermal dysplasia skos:exactMatch DOID:0050577 cranioectodermal dysplasia semapv:UnspecifiedMatching MONDO:0009032 cranioectodermal dysplasia skos:exactMatch MEDGEN:1641011 semapv:UnspecifiedMatching MONDO:0009032 cranioectodermal dysplasia skos:exactMatch NCIT:C129305 Cranioectodermal Dysplasia semapv:UnspecifiedMatching MONDO:0009032 cranioectodermal dysplasia skos:exactMatch OMIMPS:218330 Cranioectodermal dysplasia semapv:UnspecifiedMatching MONDO:0009032 cranioectodermal dysplasia skos:exactMatch Orphanet:1515 Cranioectodermal dysplasia semapv:UnspecifiedMatching MONDO:0009032 cranioectodermal dysplasia skos:exactMatch SCTID:254093009 semapv:UnspecifiedMatching MONDO:0009032 cranioectodermal dysplasia skos:exactMatch UMLS:C4551571 semapv:UnspecifiedMatching MONDO:0009032 cranioectodermal dysplasia skos:exactMatch icd11.foundation:1588881145 Cranioectodermal dysplasia semapv:UnspecifiedMatching MONDO:0009033 temtamy syndrome skos:exactMatch DOID:0111621 Temtamy syndrome semapv:UnspecifiedMatching MONDO:0009033 temtamy syndrome skos:exactMatch MEDGEN:347474 semapv:UnspecifiedMatching MONDO:0009033 temtamy syndrome skos:exactMatch NCIT:C148371 Temtamy Syndrome semapv:UnspecifiedMatching MONDO:0009033 temtamy syndrome skos:exactMatch OMIM:218340 temtamy syndrome semapv:UnspecifiedMatching MONDO:0009033 temtamy syndrome skos:exactMatch Orphanet:1777 Temtamy syndrome semapv:UnspecifiedMatching MONDO:0009033 temtamy syndrome skos:exactMatch SCTID:719947004 semapv:UnspecifiedMatching MONDO:0009033 temtamy syndrome skos:exactMatch UMLS:C1857512 semapv:UnspecifiedMatching MONDO:0009033 temtamy syndrome skos:exactMatch mesh:C536959 semapv:UnspecifiedMatching MONDO:0009034 craniofacial dyssynostosis skos:exactMatch MEDGEN:347473 semapv:UnspecifiedMatching MONDO:0009034 craniofacial dyssynostosis skos:exactMatch OMIM:218350 craniofacial dyssynostosis with short stature semapv:UnspecifiedMatching MONDO:0009034 craniofacial dyssynostosis skos:exactMatch Orphanet:1516 Non-syndromic bilambdoid and sagittal craniosynostosis semapv:UnspecifiedMatching MONDO:0009034 craniofacial dyssynostosis skos:exactMatch UMLS:C1857511 semapv:UnspecifiedMatching MONDO:0009034 craniofacial dyssynostosis skos:exactMatch mesh:C536455 semapv:UnspecifiedMatching MONDO:0009035 craniometaphyseal dysplasia, autosomal recessive skos:exactMatch DOID:0080802 autosomal recessive craniometaphyseal dysplasia semapv:UnspecifiedMatching MONDO:0009035 craniometaphyseal dysplasia, autosomal recessive skos:exactMatch MEDGEN:419753 semapv:UnspecifiedMatching MONDO:0009035 craniometaphyseal dysplasia, autosomal recessive skos:exactMatch OMIM:218400 craniometaphyseal dysplasia, autosomal recessive semapv:UnspecifiedMatching MONDO:0009035 craniometaphyseal dysplasia, autosomal recessive skos:exactMatch UMLS:C2931244 semapv:UnspecifiedMatching MONDO:0009035 craniometaphyseal dysplasia, autosomal recessive skos:exactMatch mesh:C536570 semapv:UnspecifiedMatching MONDO:0009036 cardiocranial syndrome, Pfeiffer type skos:exactMatch MEDGEN:346598 semapv:UnspecifiedMatching MONDO:0009036 cardiocranial syndrome, Pfeiffer type skos:exactMatch OMIM:218450 craniostenosis, sagittal, with congenital heart disease, mental deficiency, and mandibular ankylosis semapv:UnspecifiedMatching MONDO:0009036 cardiocranial syndrome, Pfeiffer type skos:exactMatch Orphanet:2872 Cardiocranial syndrome, Pfeiffer type semapv:UnspecifiedMatching MONDO:0009036 cardiocranial syndrome, Pfeiffer type skos:exactMatch SCTID:720606005 semapv:UnspecifiedMatching MONDO:0009036 cardiocranial syndrome, Pfeiffer type skos:exactMatch UMLS:C1857495 semapv:UnspecifiedMatching MONDO:0009036 cardiocranial syndrome, Pfeiffer type skos:exactMatch icd11.foundation:629231429 Cardiocranial syndrome, Pfeiffer type semapv:UnspecifiedMatching MONDO:0009036 cardiocranial syndrome, Pfeiffer type skos:exactMatch mesh:C535578 semapv:UnspecifiedMatching MONDO:0009037 craniosynostosis with anomalies of the cranial base and digits skos:exactMatch MEDGEN:347469 semapv:UnspecifiedMatching MONDO:0009037 craniosynostosis with anomalies of the cranial base and digits skos:exactMatch OMIM:218530 craniosynostosis with anomalies of the cranial base and digits semapv:UnspecifiedMatching MONDO:0009037 craniosynostosis with anomalies of the cranial base and digits skos:exactMatch UMLS:C1857493 semapv:UnspecifiedMatching MONDO:0009037 craniosynostosis with anomalies of the cranial base and digits skos:exactMatch mesh:C565666 semapv:UnspecifiedMatching MONDO:0009038 craniosynostosis-fibular aplasia syndrome skos:exactMatch MEDGEN:347468 semapv:UnspecifiedMatching MONDO:0009038 craniosynostosis-fibular aplasia syndrome skos:exactMatch OMIM:218550 craniosynostosis with fibular aplasia semapv:UnspecifiedMatching MONDO:0009038 craniosynostosis-fibular aplasia syndrome skos:exactMatch SCTID:732250002 semapv:UnspecifiedMatching MONDO:0009038 craniosynostosis-fibular aplasia syndrome skos:exactMatch UMLS:C1857492 semapv:UnspecifiedMatching MONDO:0009038 craniosynostosis-fibular aplasia syndrome skos:exactMatch mesh:C565665 semapv:UnspecifiedMatching MONDO:0009039 Baller-Gerold syndrome skos:exactMatch DOID:0050654 Baller-Gerold syndrome semapv:UnspecifiedMatching MONDO:0009039 Baller-Gerold syndrome skos:exactMatch MEDGEN:120532 semapv:UnspecifiedMatching MONDO:0009039 Baller-Gerold syndrome skos:exactMatch OMIM:218600 baller-gerold syndrome semapv:UnspecifiedMatching MONDO:0009039 Baller-Gerold syndrome skos:exactMatch Orphanet:1225 Baller-Gerold syndrome semapv:UnspecifiedMatching MONDO:0009039 Baller-Gerold syndrome skos:exactMatch SCTID:77608001 semapv:UnspecifiedMatching MONDO:0009039 Baller-Gerold syndrome skos:exactMatch UMLS:C0265308 semapv:UnspecifiedMatching MONDO:0009039 Baller-Gerold syndrome skos:exactMatch icd11.foundation:1650688177 Baller-Gerold syndrome semapv:UnspecifiedMatching MONDO:0009039 Baller-Gerold syndrome skos:exactMatch mesh:C536788 semapv:UnspecifiedMatching MONDO:0009040 craniosynostosis-intellectual disability syndrome of 51N and Gettig skos:exactMatch MEDGEN:341781 semapv:UnspecifiedMatching MONDO:0009040 craniosynostosis-intellectual disability syndrome of 51N and Gettig skos:exactMatch OMIM:218649 lin-getting syndrome semapv:UnspecifiedMatching MONDO:0009040 craniosynostosis-intellectual disability syndrome of 51N and Gettig skos:exactMatch UMLS:C1857473 semapv:UnspecifiedMatching MONDO:0009040 craniosynostosis-intellectual disability syndrome of 51N and Gettig skos:exactMatch mesh:C565664 semapv:UnspecifiedMatching MONDO:0009041 craniosynostosis-intellectual disability-clefting syndrome skos:exactMatch MEDGEN:387829 semapv:UnspecifiedMatching MONDO:0009041 craniosynostosis-intellectual disability-clefting syndrome skos:exactMatch OMIM:218650 craniosynostosis-impaired intellectual development-clefting syndrome semapv:UnspecifiedMatching MONDO:0009041 craniosynostosis-intellectual disability-clefting syndrome skos:exactMatch UMLS:C1857472 semapv:UnspecifiedMatching MONDO:0009041 craniosynostosis-intellectual disability-clefting syndrome skos:exactMatch mesh:C537906 semapv:UnspecifiedMatching MONDO:0009041 craniosynostosis-intellectual disability-clefting syndrome skos:exactMatch mesh:C565663 semapv:UnspecifiedMatching MONDO:0009042 craniotelencephalic dysplasia skos:exactMatch MEDGEN:347462 semapv:UnspecifiedMatching MONDO:0009042 craniotelencephalic dysplasia skos:exactMatch OMIM:218670 craniotelencephalic dysplasia semapv:UnspecifiedMatching MONDO:0009042 craniotelencephalic dysplasia skos:exactMatch Orphanet:1528 Craniotelencephalic dysplasia semapv:UnspecifiedMatching MONDO:0009042 craniotelencephalic dysplasia skos:exactMatch SCTID:715422002 semapv:UnspecifiedMatching MONDO:0009042 craniotelencephalic dysplasia skos:exactMatch UMLS:C1857471 semapv:UnspecifiedMatching MONDO:0009042 craniotelencephalic dysplasia skos:exactMatch icd11.foundation:1684038717 Craniotelencephalic dysplasia semapv:UnspecifiedMatching MONDO:0009042 craniotelencephalic dysplasia skos:exactMatch mesh:C535597 semapv:UnspecifiedMatching MONDO:0009043 generalized resistance to thyroid hormone skos:exactMatch MEDGEN:1654700 semapv:UnspecifiedMatching MONDO:0009043 generalized resistance to thyroid hormone skos:exactMatch UMLS:C4722330 semapv:UnspecifiedMatching MONDO:0009044 Crigler-Najjar syndrome skos:exactMatch DOID:3803 Crigler-Najjar syndrome semapv:UnspecifiedMatching MONDO:0009044 Crigler-Najjar syndrome skos:exactMatch ICD10CM:E80.5 Crigler-Najjar syndrome semapv:UnspecifiedMatching MONDO:0009044 Crigler-Najjar syndrome skos:exactMatch MEDGEN:1789261 semapv:UnspecifiedMatching MONDO:0009044 Crigler-Najjar syndrome skos:exactMatch NCIT:C84656 Crigler-Najjar Syndrome semapv:UnspecifiedMatching MONDO:0009044 Crigler-Najjar syndrome skos:exactMatch Orphanet:205 Crigler-Najjar syndrome semapv:UnspecifiedMatching MONDO:0009044 Crigler-Najjar syndrome skos:exactMatch SCTID:28259009 semapv:UnspecifiedMatching MONDO:0009044 Crigler-Najjar syndrome skos:exactMatch UMLS:C5551003 semapv:UnspecifiedMatching MONDO:0009044 Crigler-Najjar syndrome skos:exactMatch icd11.foundation:291439191 Crigler-Najjar syndrome semapv:UnspecifiedMatching MONDO:0009044 Crigler-Najjar syndrome skos:exactMatch mesh:D003414 semapv:UnspecifiedMatching MONDO:0009045 cataract-nephropathy-encephalopathy syndrome skos:exactMatch MEDGEN:167082 semapv:UnspecifiedMatching MONDO:0009045 cataract-nephropathy-encephalopathy syndrome skos:exactMatch OMIM:218900 crome syndrome semapv:UnspecifiedMatching MONDO:0009045 cataract-nephropathy-encephalopathy syndrome skos:exactMatch Orphanet:1380 Cataract-nephropathy-encephalopathy syndrome semapv:UnspecifiedMatching MONDO:0009045 cataract-nephropathy-encephalopathy syndrome skos:exactMatch SCTID:722381004 semapv:UnspecifiedMatching MONDO:0009045 cataract-nephropathy-encephalopathy syndrome skos:exactMatch UMLS:C0795914 semapv:UnspecifiedMatching MONDO:0009045 cataract-nephropathy-encephalopathy syndrome skos:exactMatch mesh:C536216 semapv:UnspecifiedMatching MONDO:0009046 Fraser syndrome skos:exactMatch DOID:0090001 Fraser syndrome semapv:UnspecifiedMatching MONDO:0009046 Fraser syndrome skos:exactMatch MEDGEN:82692 semapv:UnspecifiedMatching MONDO:0009046 Fraser syndrome skos:exactMatch NCIT:C118436 Fraser Syndrome semapv:UnspecifiedMatching MONDO:0009046 Fraser syndrome skos:exactMatch OMIMPS:219000 Fraser syndrome semapv:UnspecifiedMatching MONDO:0009046 Fraser syndrome skos:exactMatch Orphanet:2052 Fraser syndrome semapv:UnspecifiedMatching MONDO:0009046 Fraser syndrome skos:exactMatch SCTID:204102004 semapv:UnspecifiedMatching MONDO:0009046 Fraser syndrome skos:exactMatch UMLS:C0265233 semapv:UnspecifiedMatching MONDO:0009046 Fraser syndrome skos:exactMatch icd11.foundation:968262849 Fraser syndrome semapv:UnspecifiedMatching MONDO:0009046 Fraser syndrome skos:exactMatch mesh:D058497 semapv:UnspecifiedMatching MONDO:0009047 cryptorchidism skos:exactMatch DOID:11383 cryptorchidism semapv:UnspecifiedMatching MONDO:0009047 cryptorchidism skos:exactMatch EFO:0004562 semapv:UnspecifiedMatching MONDO:0009047 cryptorchidism skos:exactMatch MEDGEN:8192 semapv:UnspecifiedMatching MONDO:0009047 cryptorchidism skos:exactMatch NCIT:C12326 Undescended Testes semapv:UnspecifiedMatching MONDO:0009047 cryptorchidism skos:exactMatch OMIM:219050 cryptorchidism, unilateral or bilateral semapv:UnspecifiedMatching MONDO:0009047 cryptorchidism skos:exactMatch SCTID:204878001 semapv:UnspecifiedMatching MONDO:0009047 cryptorchidism skos:exactMatch UMLS:C0010417 semapv:UnspecifiedMatching MONDO:0009047 cryptorchidism skos:exactMatch icd11.foundation:1134950387 Cryptorchidism semapv:UnspecifiedMatching MONDO:0009047 cryptorchidism skos:exactMatch mesh:D003456 semapv:UnspecifiedMatching MONDO:0009048 curved nail of fourth toe skos:exactMatch MEDGEN:347457 semapv:UnspecifiedMatching MONDO:0009048 curved nail of fourth toe skos:exactMatch OMIM:219070 curved nail of fourth toe semapv:UnspecifiedMatching MONDO:0009048 curved nail of fourth toe skos:exactMatch UMLS:C1857452 semapv:UnspecifiedMatching MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia skos:exactMatch DOID:0111622 ACTH-independent macronodular adrenal hyperplasia semapv:UnspecifiedMatching MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia skos:exactMatch EFO:0009041 semapv:UnspecifiedMatching MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia skos:exactMatch MEDGEN:923388 semapv:UnspecifiedMatching MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia skos:exactMatch OMIMPS:219080 ACTH-independent macronodular adrenal hyperplasia semapv:UnspecifiedMatching MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia skos:exactMatch Orphanet:189427 Cushing syndrome due to bilateral macronodular adrenocortical disease semapv:UnspecifiedMatching MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia skos:exactMatch SCTID:720459002 semapv:UnspecifiedMatching MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia skos:exactMatch UMLS:C2062388 semapv:UnspecifiedMatching MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia skos:exactMatch mesh:C565662 semapv:UnspecifiedMatching MONDO:0009050 Cushing disease due to pituitary adenoma skos:exactMatch DOID:7004 ACTH-secreting pituitary adenoma semapv:UnspecifiedMatching MONDO:0009050 Cushing disease due to pituitary adenoma skos:exactMatch MEDGEN:66381 semapv:UnspecifiedMatching MONDO:0009050 Cushing disease due to pituitary adenoma skos:exactMatch NCIT:C113210 Cushing Disease semapv:UnspecifiedMatching MONDO:0009050 Cushing disease due to pituitary adenoma skos:exactMatch OMIM:219090 pituitary adenoma 4, acth-secreting semapv:UnspecifiedMatching MONDO:0009050 Cushing disease due to pituitary adenoma skos:exactMatch Orphanet:96253 Cushing disease semapv:UnspecifiedMatching MONDO:0009050 Cushing disease due to pituitary adenoma skos:exactMatch SCTID:254958004 semapv:UnspecifiedMatching MONDO:0009050 Cushing disease due to pituitary adenoma skos:exactMatch UMLS:C0221406 semapv:UnspecifiedMatching MONDO:0009050 Cushing disease due to pituitary adenoma skos:exactMatch icd11.foundation:380861892 Pituitary-dependent Cushing disease semapv:UnspecifiedMatching MONDO:0009050 Cushing disease due to pituitary adenoma skos:exactMatch mesh:D049913 semapv:UnspecifiedMatching MONDO:0009051 cutaneous photosensitivity-lethal colitis syndrome skos:exactMatch MEDGEN:347455 semapv:UnspecifiedMatching MONDO:0009051 cutaneous photosensitivity-lethal colitis syndrome skos:exactMatch OMIM:219095 cutaneous photosensitivity and colitis, lethal semapv:UnspecifiedMatching MONDO:0009051 cutaneous photosensitivity-lethal colitis syndrome skos:exactMatch Orphanet:2881 Cutaneous photosensitivity-lethal colitis syndrome semapv:UnspecifiedMatching MONDO:0009051 cutaneous photosensitivity-lethal colitis syndrome skos:exactMatch UMLS:C1857449 semapv:UnspecifiedMatching MONDO:0009051 cutaneous photosensitivity-lethal colitis syndrome skos:exactMatch mesh:C536224 semapv:UnspecifiedMatching MONDO:0009052 cutis laxa, autosomal recessive, type 1A skos:exactMatch DOID:0070135 autosomal recessive cutis laxa type IA semapv:UnspecifiedMatching MONDO:0009052 cutis laxa, autosomal recessive, type 1A skos:exactMatch MEDGEN:1846304 semapv:UnspecifiedMatching MONDO:0009052 cutis laxa, autosomal recessive, type 1A skos:exactMatch OMIM:219100 cutis laxa, autosomal recessive, type 1a semapv:UnspecifiedMatching MONDO:0009052 cutis laxa, autosomal recessive, type 1A skos:exactMatch SCTID:59451000 semapv:UnspecifiedMatching MONDO:0009052 cutis laxa, autosomal recessive, type 1A skos:exactMatch UMLS:C5848058 semapv:UnspecifiedMatching MONDO:0009052 cutis laxa, autosomal recessive, type 1A skos:exactMatch mesh:C562628 semapv:UnspecifiedMatching MONDO:0009053 ALDH18A1-related de Barsy syndrome skos:exactMatch DOID:0070132 autosomal recessive cutis laxa type IIIA semapv:UnspecifiedMatching MONDO:0009053 ALDH18A1-related de Barsy syndrome skos:exactMatch MEDGEN:1720006 semapv:UnspecifiedMatching MONDO:0009053 ALDH18A1-related de Barsy syndrome skos:exactMatch OMIM:219150 cutis laxa, autosomal recessive, type 3a semapv:UnspecifiedMatching MONDO:0009053 ALDH18A1-related de Barsy syndrome skos:exactMatch Orphanet:35664 ALDH18A1-related De Barsy syndrome semapv:UnspecifiedMatching MONDO:0009053 ALDH18A1-related de Barsy syndrome skos:exactMatch SCTID:59252009 semapv:UnspecifiedMatching MONDO:0009053 ALDH18A1-related de Barsy syndrome skos:exactMatch UMLS:C5234852 semapv:UnspecifiedMatching MONDO:0009054 autosomal recessive cutis laxa type 2, classic type skos:exactMatch DOID:0070141 autosomal recessive cutis laxa type II classic type semapv:UnspecifiedMatching MONDO:0009054 autosomal recessive cutis laxa type 2, classic type skos:exactMatch MEDGEN:1825992 semapv:UnspecifiedMatching MONDO:0009054 autosomal recessive cutis laxa type 2, classic type skos:exactMatch Orphanet:357074 Autosomal recessive cutis laxa type 2, classic type semapv:UnspecifiedMatching MONDO:0009054 autosomal recessive cutis laxa type 2, classic type skos:exactMatch SCTID:73856006 semapv:UnspecifiedMatching MONDO:0009054 autosomal recessive cutis laxa type 2, classic type skos:exactMatch UMLS:C5679922 semapv:UnspecifiedMatching MONDO:0009054 autosomal recessive cutis laxa type 2, classic type skos:exactMatch mesh:C562632 semapv:UnspecifiedMatching MONDO:0009055 cutis marmorata telangiectatica congenita skos:exactMatch MEDGEN:83381 semapv:UnspecifiedMatching MONDO:0009055 cutis marmorata telangiectatica congenita skos:exactMatch OMIM:219250 cutis marmorata telangiectatica congenita semapv:UnspecifiedMatching MONDO:0009055 cutis marmorata telangiectatica congenita skos:exactMatch Orphanet:1556 Cutis marmorata telangiectatica congenita semapv:UnspecifiedMatching MONDO:0009055 cutis marmorata telangiectatica congenita skos:exactMatch SCTID:254778000 semapv:UnspecifiedMatching MONDO:0009055 cutis marmorata telangiectatica congenita skos:exactMatch UMLS:C0345419 semapv:UnspecifiedMatching MONDO:0009055 cutis marmorata telangiectatica congenita skos:exactMatch icd11.foundation:1359154853 Cutis marmorata telangiectatica congenita semapv:UnspecifiedMatching MONDO:0009055 cutis marmorata telangiectatica congenita skos:exactMatch mesh:C536226 semapv:UnspecifiedMatching MONDO:0009056 cutis verticis gyrata and intellectual disability skos:exactMatch MEDGEN:387821 semapv:UnspecifiedMatching MONDO:0009056 cutis verticis gyrata and intellectual disability skos:exactMatch OMIM:219300 cutis verticis gyrata and impaired intellectual development semapv:UnspecifiedMatching MONDO:0009056 cutis verticis gyrata and intellectual disability skos:exactMatch UMLS:C1857444 semapv:UnspecifiedMatching MONDO:0009057 cyanosis and hepatic disease skos:exactMatch MEDGEN:387820 semapv:UnspecifiedMatching MONDO:0009057 cyanosis and hepatic disease skos:exactMatch OMIM:219400 cyanosis and hepatic disease semapv:UnspecifiedMatching MONDO:0009057 cyanosis and hepatic disease skos:exactMatch UMLS:C1857443 semapv:UnspecifiedMatching MONDO:0009057 cyanosis and hepatic disease skos:exactMatch mesh:C565660 semapv:UnspecifiedMatching MONDO:0009058 cystathioninuria skos:exactMatch DOID:0090142 cystathioninuria semapv:UnspecifiedMatching MONDO:0009058 cystathioninuria skos:exactMatch MEDGEN:66353 semapv:UnspecifiedMatching MONDO:0009058 cystathioninuria skos:exactMatch NCIT:C129070 Cystathioninuria semapv:UnspecifiedMatching MONDO:0009058 cystathioninuria skos:exactMatch OMIM:219500 cystathioninuria semapv:UnspecifiedMatching MONDO:0009058 cystathioninuria skos:exactMatch Orphanet:212 Cystathioninuria semapv:UnspecifiedMatching MONDO:0009058 cystathioninuria skos:exactMatch SCTID:13003007 semapv:UnspecifiedMatching MONDO:0009058 cystathioninuria skos:exactMatch UMLS:C0220993 semapv:UnspecifiedMatching MONDO:0009058 cystathioninuria skos:exactMatch icd11.foundation:1415819835 Cystathioninuria semapv:UnspecifiedMatching MONDO:0009059 cysteine Peptiduria skos:exactMatch MEDGEN:346587 semapv:UnspecifiedMatching MONDO:0009059 cysteine Peptiduria skos:exactMatch OMIM:219550 cysteine peptiduria semapv:UnspecifiedMatching MONDO:0009059 cysteine Peptiduria skos:exactMatch UMLS:C1857438 semapv:UnspecifiedMatching MONDO:0009059 cysteine Peptiduria skos:exactMatch mesh:C565659 semapv:UnspecifiedMatching MONDO:0009060 cystic disease of lung skos:exactMatch MEDGEN:278028 semapv:UnspecifiedMatching MONDO:0009060 cystic disease of lung skos:exactMatch OMIM:219600 polycystic lung disease semapv:UnspecifiedMatching MONDO:0009060 cystic disease of lung skos:exactMatch UMLS:C1384901 semapv:UnspecifiedMatching MONDO:0009060 cystic disease of lung skos:exactMatch mesh:C563237 semapv:UnspecifiedMatching MONDO:0009061 cystic fibrosis skos:exactMatch DOID:1485 cystic fibrosis semapv:UnspecifiedMatching MONDO:0009061 cystic fibrosis skos:exactMatch ICD10CM:E84 Cystic fibrosis semapv:UnspecifiedMatching MONDO:0009061 cystic fibrosis skos:exactMatch ICD10WHO:E84 Cystic fibrosis semapv:UnspecifiedMatching MONDO:0009061 cystic fibrosis skos:exactMatch MEDGEN:41393 semapv:UnspecifiedMatching MONDO:0009061 cystic fibrosis skos:exactMatch NCIT:C2975 Cystic Fibrosis semapv:UnspecifiedMatching MONDO:0009061 cystic fibrosis skos:exactMatch OMIM:219700 cystic fibrosis semapv:UnspecifiedMatching MONDO:0009061 cystic fibrosis skos:exactMatch Orphanet:586 Cystic fibrosis semapv:UnspecifiedMatching MONDO:0009061 cystic fibrosis skos:exactMatch SCTID:190905008 semapv:UnspecifiedMatching MONDO:0009061 cystic fibrosis skos:exactMatch UMLS:C0010674 semapv:UnspecifiedMatching MONDO:0009061 cystic fibrosis skos:exactMatch icd11.foundation:514403112 Cystic fibrosis semapv:UnspecifiedMatching MONDO:0009061 cystic fibrosis skos:exactMatch mesh:D003550 semapv:UnspecifiedMatching MONDO:0009062 cystic fibrosis-gastritis-megaloblastic anemia syndrome skos:exactMatch MEDGEN:812585 semapv:UnspecifiedMatching MONDO:0009062 cystic fibrosis-gastritis-megaloblastic anemia syndrome skos:exactMatch OMIM:219721 cystic fibrosis with helicobacter pylori gastritis, megaloblastic anemia, and impaired intellectual development semapv:UnspecifiedMatching MONDO:0009062 cystic fibrosis-gastritis-megaloblastic anemia syndrome skos:exactMatch Orphanet:2575 Cystic fibrosis-gastritis-megaloblastic anemia syndrome semapv:UnspecifiedMatching MONDO:0009062 cystic fibrosis-gastritis-megaloblastic anemia syndrome skos:exactMatch SCTID:720401009 semapv:UnspecifiedMatching MONDO:0009062 cystic fibrosis-gastritis-megaloblastic anemia syndrome skos:exactMatch UMLS:C3806255 semapv:UnspecifiedMatching MONDO:0009062 cystic fibrosis-gastritis-megaloblastic anemia syndrome skos:exactMatch mesh:C537039 semapv:UnspecifiedMatching MONDO:0009063 ventriculomegaly-cystic kidney disease skos:exactMatch DOID:0111625 ventriculomegaly - cystic kidney disease semapv:UnspecifiedMatching MONDO:0009063 ventriculomegaly-cystic kidney disease skos:exactMatch MEDGEN:346584 semapv:UnspecifiedMatching MONDO:0009063 ventriculomegaly-cystic kidney disease skos:exactMatch OMIM:219730 ventriculomegaly with cystic kidney disease semapv:UnspecifiedMatching MONDO:0009063 ventriculomegaly-cystic kidney disease skos:exactMatch Orphanet:443988 Ventriculomegaly-cystic kidney disease semapv:UnspecifiedMatching MONDO:0009063 ventriculomegaly-cystic kidney disease skos:exactMatch UMLS:C1857423 semapv:UnspecifiedMatching MONDO:0009064 ocular cystinosis skos:exactMatch MEDGEN:419313 semapv:UnspecifiedMatching MONDO:0009064 ocular cystinosis skos:exactMatch OMIM:219750 cystinosis, adult nonnephropathic semapv:UnspecifiedMatching MONDO:0009064 ocular cystinosis skos:exactMatch Orphanet:411641 Ocular cystinosis semapv:UnspecifiedMatching MONDO:0009064 ocular cystinosis skos:exactMatch SCTID:25010000 semapv:UnspecifiedMatching MONDO:0009064 ocular cystinosis skos:exactMatch UMLS:C2931013 semapv:UnspecifiedMatching MONDO:0009064 ocular cystinosis skos:exactMatch mesh:C535765 semapv:UnspecifiedMatching MONDO:0009066 juvenile nephropathic cystinosis skos:exactMatch MEDGEN:75701 semapv:UnspecifiedMatching MONDO:0009066 juvenile nephropathic cystinosis skos:exactMatch OMIM:219900 cystinosis, late-onset juvenile or adolescent nephropathic type semapv:UnspecifiedMatching MONDO:0009066 juvenile nephropathic cystinosis skos:exactMatch Orphanet:411634 Juvenile nephropathic cystinosis semapv:UnspecifiedMatching MONDO:0009066 juvenile nephropathic cystinosis skos:exactMatch SCTID:22830006 semapv:UnspecifiedMatching MONDO:0009066 juvenile nephropathic cystinosis skos:exactMatch UMLS:C0268626 semapv:UnspecifiedMatching MONDO:0009066 juvenile nephropathic cystinosis skos:exactMatch icd11.foundation:422905632 Juvenile nephropathic cystinosis semapv:UnspecifiedMatching MONDO:0009066 juvenile nephropathic cystinosis skos:exactMatch mesh:C562683 semapv:UnspecifiedMatching MONDO:0009067 cystinuria skos:exactMatch DOID:9266 cystinuria semapv:UnspecifiedMatching MONDO:0009067 cystinuria skos:exactMatch ICD10CM:E72.01 Cystinuria semapv:UnspecifiedMatching MONDO:0009067 cystinuria skos:exactMatch MEDGEN:8226 semapv:UnspecifiedMatching MONDO:0009067 cystinuria skos:exactMatch NCIT:C84664 Cystinuria semapv:UnspecifiedMatching MONDO:0009067 cystinuria skos:exactMatch OMIM:220100 cystinuria semapv:UnspecifiedMatching MONDO:0009067 cystinuria skos:exactMatch Orphanet:214 Cystinuria semapv:UnspecifiedMatching MONDO:0009067 cystinuria skos:exactMatch SCTID:85020001 semapv:UnspecifiedMatching MONDO:0009067 cystinuria skos:exactMatch UMLS:C0010691 semapv:UnspecifiedMatching MONDO:0009067 cystinuria skos:exactMatch icd11.foundation:1237620397 Cystinuria semapv:UnspecifiedMatching MONDO:0009067 cystinuria skos:exactMatch mesh:D003555 semapv:UnspecifiedMatching MONDO:0009069 congenital lactic acidosis, Saguenay-Lac-Saint-Jean type skos:exactMatch DOID:0111180 French Canadian Leigh disease semapv:UnspecifiedMatching MONDO:0009069 congenital lactic acidosis, Saguenay-Lac-Saint-Jean type skos:exactMatch MEDGEN:387801 semapv:UnspecifiedMatching MONDO:0009069 congenital lactic acidosis, Saguenay-Lac-Saint-Jean type skos:exactMatch OMIM:220111 mitochondrial complex 4 deficiency, nuclear type 5 semapv:UnspecifiedMatching MONDO:0009069 congenital lactic acidosis, Saguenay-Lac-Saint-Jean type skos:exactMatch Orphanet:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type semapv:UnspecifiedMatching MONDO:0009069 congenital lactic acidosis, Saguenay-Lac-Saint-Jean type skos:exactMatch SCTID:718219002 semapv:UnspecifiedMatching MONDO:0009069 congenital lactic acidosis, Saguenay-Lac-Saint-Jean type skos:exactMatch UMLS:C1857355 semapv:UnspecifiedMatching MONDO:0009069 congenital lactic acidosis, Saguenay-Lac-Saint-Jean type skos:exactMatch mesh:C537004 semapv:UnspecifiedMatching MONDO:0009070 D-glyceric aciduria skos:exactMatch DOID:0111626 D-glyceric aciduria semapv:UnspecifiedMatching MONDO:0009070 D-glyceric aciduria skos:exactMatch MEDGEN:452447 semapv:UnspecifiedMatching MONDO:0009070 D-glyceric aciduria skos:exactMatch NCIT:C128804 D-Glyceric Aciduria semapv:UnspecifiedMatching MONDO:0009070 D-glyceric aciduria skos:exactMatch OMIM:220120 d-glyceric aciduria semapv:UnspecifiedMatching MONDO:0009070 D-glyceric aciduria skos:exactMatch Orphanet:941 D-glyceric aciduria semapv:UnspecifiedMatching MONDO:0009070 D-glyceric aciduria skos:exactMatch SCTID:237980004 semapv:UnspecifiedMatching MONDO:0009070 D-glyceric aciduria skos:exactMatch UMLS:C0342765 semapv:UnspecifiedMatching MONDO:0009070 D-glyceric aciduria skos:exactMatch mesh:C535767 semapv:UnspecifiedMatching MONDO:0009071 hereditary renal hypouricemia skos:exactMatch MEDGEN:1643078 semapv:UnspecifiedMatching MONDO:0009071 hereditary renal hypouricemia skos:exactMatch Orphanet:94088 Hereditary renal hypouricemia semapv:UnspecifiedMatching MONDO:0009071 hereditary renal hypouricemia skos:exactMatch SCTID:236478009 semapv:UnspecifiedMatching MONDO:0009071 hereditary renal hypouricemia skos:exactMatch UMLS:C4551590 semapv:UnspecifiedMatching MONDO:0009071 hereditary renal hypouricemia skos:exactMatch icd11.foundation:479364233 Hereditary renal hypouricemia semapv:UnspecifiedMatching MONDO:0009071 hereditary renal hypouricemia skos:exactMatch mesh:C537757 semapv:UnspecifiedMatching MONDO:0009072 Dandy-Walker syndrome skos:exactMatch DOID:2785 Dandy-Walker syndrome semapv:UnspecifiedMatching MONDO:0009072 Dandy-Walker syndrome skos:exactMatch EFO:1000890 semapv:UnspecifiedMatching MONDO:0009072 Dandy-Walker syndrome skos:exactMatch MEDGEN:4150 semapv:UnspecifiedMatching MONDO:0009072 Dandy-Walker syndrome skos:exactMatch NCIT:C75012 Dandy-Walker Malformation semapv:UnspecifiedMatching MONDO:0009072 Dandy-Walker syndrome skos:exactMatch OMIM:220200 dandy-walker syndrome semapv:UnspecifiedMatching MONDO:0009072 Dandy-Walker syndrome skos:exactMatch Orphanet:217 Isolated Dandy-Walker malformation semapv:UnspecifiedMatching MONDO:0009072 Dandy-Walker syndrome skos:exactMatch SCTID:14447001 semapv:UnspecifiedMatching MONDO:0009072 Dandy-Walker syndrome skos:exactMatch UMLS:C0010964 semapv:UnspecifiedMatching MONDO:0009072 Dandy-Walker syndrome skos:exactMatch icd11.foundation:993088960 Dandy-Walker malformation semapv:UnspecifiedMatching MONDO:0009072 Dandy-Walker syndrome skos:exactMatch mesh:D003616 semapv:UnspecifiedMatching MONDO:0009073 Ritscher-Schinzel syndrome 1 skos:exactMatch DOID:0060571 Ritscher-Schinzel syndrome 1 semapv:UnspecifiedMatching MONDO:0009073 Ritscher-Schinzel syndrome 1 skos:exactMatch MEDGEN:1634646 semapv:UnspecifiedMatching MONDO:0009073 Ritscher-Schinzel syndrome 1 skos:exactMatch OMIM:220210 ritscher-schinzel syndrome 1 semapv:UnspecifiedMatching MONDO:0009073 Ritscher-Schinzel syndrome 1 skos:exactMatch UMLS:C4551776 semapv:UnspecifiedMatching MONDO:0009074 facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome skos:exactMatch MEDGEN:341752 semapv:UnspecifiedMatching MONDO:0009074 facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome skos:exactMatch OMIM:220219 dandy-walker malformation with impaired intellectual development, macrocephaly, myopia, and brachytelephalangy semapv:UnspecifiedMatching MONDO:0009074 facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome skos:exactMatch Orphanet:1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome semapv:UnspecifiedMatching MONDO:0009074 facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome skos:exactMatch UMLS:C1857352 semapv:UnspecifiedMatching MONDO:0009074 facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome skos:exactMatch mesh:C535985 semapv:UnspecifiedMatching MONDO:0009075 Dandy-Walker malformation-postaxial polydactyly syndrome skos:exactMatch MEDGEN:341751 semapv:UnspecifiedMatching MONDO:0009075 Dandy-Walker malformation-postaxial polydactyly syndrome skos:exactMatch OMIM:220220 dandy-walker malformation with postaxial polydactyly semapv:UnspecifiedMatching MONDO:0009075 Dandy-Walker malformation-postaxial polydactyly syndrome skos:exactMatch Orphanet:1566 Dandy-Walker malformation-postaxial polydactyly syndrome semapv:UnspecifiedMatching MONDO:0009075 Dandy-Walker malformation-postaxial polydactyly syndrome skos:exactMatch SCTID:733094005 semapv:UnspecifiedMatching MONDO:0009075 Dandy-Walker malformation-postaxial polydactyly syndrome skos:exactMatch UMLS:C1857351 semapv:UnspecifiedMatching MONDO:0009075 Dandy-Walker malformation-postaxial polydactyly syndrome skos:exactMatch mesh:C535771 semapv:UnspecifiedMatching MONDO:0009076 autosomal recessive nonsyndromic hearing loss 1A skos:exactMatch DOID:0110475 autosomal recessive nonsyndromic deafness 1A semapv:UnspecifiedMatching MONDO:0009076 autosomal recessive nonsyndromic hearing loss 1A skos:exactMatch MEDGEN:388720 semapv:UnspecifiedMatching MONDO:0009076 autosomal recessive nonsyndromic hearing loss 1A skos:exactMatch NCIT:C129022 Deafness, Autosomal Recessive 1A semapv:UnspecifiedMatching MONDO:0009076 autosomal recessive nonsyndromic hearing loss 1A skos:exactMatch OMIM:220290 deafness, autosomal recessive 1a semapv:UnspecifiedMatching MONDO:0009076 autosomal recessive nonsyndromic hearing loss 1A skos:exactMatch UMLS:C2673759 semapv:UnspecifiedMatching MONDO:0009076 autosomal recessive nonsyndromic hearing loss 1A skos:exactMatch mesh:C567134 semapv:UnspecifiedMatching MONDO:0009077 deafness, congenital, and familial myoclonic epilepsy skos:exactMatch MEDGEN:346569 semapv:UnspecifiedMatching MONDO:0009077 deafness, congenital, and familial myoclonic epilepsy skos:exactMatch OMIM:220300 deafness, congenital, and familial myoclonic epilepsy semapv:UnspecifiedMatching MONDO:0009077 deafness, congenital, and familial myoclonic epilepsy skos:exactMatch UMLS:C1857348 semapv:UnspecifiedMatching MONDO:0009077 deafness, congenital, and familial myoclonic epilepsy skos:exactMatch mesh:C565649 semapv:UnspecifiedMatching MONDO:0009079 DOORS syndrome skos:exactMatch DOID:0111627 DOORS syndrome semapv:UnspecifiedMatching MONDO:0009079 DOORS syndrome skos:exactMatch MEDGEN:208648 semapv:UnspecifiedMatching MONDO:0009079 DOORS syndrome skos:exactMatch OMIM:220500 deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome semapv:UnspecifiedMatching MONDO:0009079 DOORS syndrome skos:exactMatch Orphanet:79500 DOORS syndrome semapv:UnspecifiedMatching MONDO:0009079 DOORS syndrome skos:exactMatch SCTID:719800009 semapv:UnspecifiedMatching MONDO:0009079 DOORS syndrome skos:exactMatch UMLS:C0795934 semapv:UnspecifiedMatching MONDO:0009079 DOORS syndrome skos:exactMatch mesh:C563052 semapv:UnspecifiedMatching MONDO:0009080 split hand-foot malformation 1 with sensorineural hearing loss skos:exactMatch DOID:0090024 split hand-foot malformation 1 with sensorineural hearing loss semapv:UnspecifiedMatching MONDO:0009080 split hand-foot malformation 1 with sensorineural hearing loss skos:exactMatch MEDGEN:347431 semapv:UnspecifiedMatching MONDO:0009080 split hand-foot malformation 1 with sensorineural hearing loss skos:exactMatch OMIM:220600 split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive semapv:UnspecifiedMatching MONDO:0009080 split hand-foot malformation 1 with sensorineural hearing loss skos:exactMatch Orphanet:71271 Split hand-split foot-deafness syndrome semapv:UnspecifiedMatching MONDO:0009080 split hand-foot malformation 1 with sensorineural hearing loss skos:exactMatch SCTID:723611008 semapv:UnspecifiedMatching MONDO:0009080 split hand-foot malformation 1 with sensorineural hearing loss skos:exactMatch UMLS:C1857344 semapv:UnspecifiedMatching MONDO:0009080 split hand-foot malformation 1 with sensorineural hearing loss skos:exactMatch mesh:C565647 semapv:UnspecifiedMatching MONDO:0009081 deafness, congenital, with total albinism skos:exactMatch MEDGEN:387799 semapv:UnspecifiedMatching MONDO:0009081 deafness, congenital, with total albinism skos:exactMatch OMIM:220900 deafness, congenital, with total albinism semapv:UnspecifiedMatching MONDO:0009081 deafness, congenital, with total albinism skos:exactMatch UMLS:C1857343 semapv:UnspecifiedMatching MONDO:0009081 deafness, congenital, with total albinism skos:exactMatch mesh:C565646 semapv:UnspecifiedMatching MONDO:0009082 high myopia-sensorineural deafness syndrome skos:exactMatch DOID:0111628 high myopia-sensorineural deafness syndrome semapv:UnspecifiedMatching MONDO:0009082 high myopia-sensorineural deafness syndrome skos:exactMatch MEDGEN:812605 semapv:UnspecifiedMatching MONDO:0009082 high myopia-sensorineural deafness syndrome skos:exactMatch OMIM:221200 deafness and myopia semapv:UnspecifiedMatching MONDO:0009082 high myopia-sensorineural deafness syndrome skos:exactMatch Orphanet:363396 High myopia-sensorineural deafness syndrome semapv:UnspecifiedMatching MONDO:0009082 high myopia-sensorineural deafness syndrome skos:exactMatch SCTID:720506002 semapv:UnspecifiedMatching MONDO:0009082 high myopia-sensorineural deafness syndrome skos:exactMatch UMLS:C3806275 semapv:UnspecifiedMatching MONDO:0009083 conductive deafness-malformed external ear syndrome skos:exactMatch MEDGEN:347429 semapv:UnspecifiedMatching MONDO:0009083 conductive deafness-malformed external ear syndrome skos:exactMatch OMIM:221300 deafness, conductive, with malformed external ear semapv:UnspecifiedMatching MONDO:0009083 conductive deafness-malformed external ear syndrome skos:exactMatch Orphanet:3216 Conductive deafness-malformed external ear syndrome semapv:UnspecifiedMatching MONDO:0009083 conductive deafness-malformed external ear syndrome skos:exactMatch UMLS:C1857341 semapv:UnspecifiedMatching MONDO:0009083 conductive deafness-malformed external ear syndrome skos:exactMatch mesh:C565644 semapv:UnspecifiedMatching MONDO:0009084 conductive deafness-ptosis-skeletal anomalies syndrome skos:exactMatch MEDGEN:347428 semapv:UnspecifiedMatching MONDO:0009084 conductive deafness-ptosis-skeletal anomalies syndrome skos:exactMatch OMIM:221320 deafness, conductive, with ptosis and skeletal anomalies semapv:UnspecifiedMatching MONDO:0009084 conductive deafness-ptosis-skeletal anomalies syndrome skos:exactMatch Orphanet:3236 Conductive deafness-ptosis-skeletal anomalies syndrome semapv:UnspecifiedMatching MONDO:0009084 conductive deafness-ptosis-skeletal anomalies syndrome skos:exactMatch SCTID:763213001 semapv:UnspecifiedMatching MONDO:0009084 conductive deafness-ptosis-skeletal anomalies syndrome skos:exactMatch UMLS:C1857340 semapv:UnspecifiedMatching MONDO:0009084 conductive deafness-ptosis-skeletal anomalies syndrome skos:exactMatch mesh:C535993 semapv:UnspecifiedMatching MONDO:0009085 deafness-vitiligo-achalasia syndrome skos:exactMatch MEDGEN:347427 semapv:UnspecifiedMatching MONDO:0009085 deafness-vitiligo-achalasia syndrome skos:exactMatch OMIM:221350 deafness, congenital, with vitiligo and achalasia semapv:UnspecifiedMatching MONDO:0009085 deafness-vitiligo-achalasia syndrome skos:exactMatch Orphanet:3239 Deafness-vitiligo-achalasia syndrome semapv:UnspecifiedMatching MONDO:0009085 deafness-vitiligo-achalasia syndrome skos:exactMatch UMLS:C1857339 semapv:UnspecifiedMatching MONDO:0009085 deafness-vitiligo-achalasia syndrome skos:exactMatch mesh:C565642 semapv:UnspecifiedMatching MONDO:0009086 deafness-small bowel diverticulosis-neuropathy syndrome skos:exactMatch MEDGEN:347426 semapv:UnspecifiedMatching MONDO:0009086 deafness-small bowel diverticulosis-neuropathy syndrome skos:exactMatch OMIM:221400 deafness, nerve type, with mesenteric diverticula of small bowel and progressive sensory neuropathy semapv:UnspecifiedMatching MONDO:0009086 deafness-small bowel diverticulosis-neuropathy syndrome skos:exactMatch Orphanet:3217 Deafness-small bowel diverticulosis-neuropathy syndrome semapv:UnspecifiedMatching MONDO:0009086 deafness-small bowel diverticulosis-neuropathy syndrome skos:exactMatch SCTID:733071009 semapv:UnspecifiedMatching MONDO:0009086 deafness-small bowel diverticulosis-neuropathy syndrome skos:exactMatch UMLS:C1857338 semapv:UnspecifiedMatching MONDO:0009086 deafness-small bowel diverticulosis-neuropathy syndrome skos:exactMatch mesh:C537305 semapv:UnspecifiedMatching MONDO:0009087 deafness, neural, congenital moderate skos:exactMatch MEDGEN:347425 semapv:UnspecifiedMatching MONDO:0009087 deafness, neural, congenital moderate skos:exactMatch OMIM:221500 deafness, neural, congenital moderate semapv:UnspecifiedMatching MONDO:0009087 deafness, neural, congenital moderate skos:exactMatch UMLS:C1857337 semapv:UnspecifiedMatching MONDO:0009087 deafness, neural, congenital moderate skos:exactMatch mesh:C565640 semapv:UnspecifiedMatching MONDO:0009088 deafness, neural, with atypical atopic dermatitis skos:exactMatch MEDGEN:346567 semapv:UnspecifiedMatching MONDO:0009088 deafness, neural, with atypical atopic dermatitis skos:exactMatch OMIM:221700 deafness, neural, with atypical atopic dermatitis semapv:UnspecifiedMatching MONDO:0009088 deafness, neural, with atypical atopic dermatitis skos:exactMatch UMLS:C1857334 semapv:UnspecifiedMatching MONDO:0009088 deafness, neural, with atypical atopic dermatitis skos:exactMatch mesh:C565639 semapv:UnspecifiedMatching MONDO:0009089 deafness-oligodontia syndrome skos:exactMatch MEDGEN:387798 semapv:UnspecifiedMatching MONDO:0009089 deafness-oligodontia syndrome skos:exactMatch OMIM:221740 deafness-oligodontia syndrome semapv:UnspecifiedMatching MONDO:0009089 deafness-oligodontia syndrome skos:exactMatch Orphanet:3230 Deafness-oligodontia syndrome semapv:UnspecifiedMatching MONDO:0009089 deafness-oligodontia syndrome skos:exactMatch UMLS:C1857333 semapv:UnspecifiedMatching MONDO:0009089 deafness-oligodontia syndrome skos:exactMatch mesh:C538049 semapv:UnspecifiedMatching MONDO:0009090 hearing loss, sensorineural, autosomal-mitochondrial type skos:exactMatch DOID:0111752 autosomal-mitochondrial sensorineural deafness semapv:UnspecifiedMatching MONDO:0009090 hearing loss, sensorineural, autosomal-mitochondrial type skos:exactMatch MEDGEN:346566 semapv:UnspecifiedMatching MONDO:0009090 hearing loss, sensorineural, autosomal-mitochondrial type skos:exactMatch OMIM:221745 deafness, sensorineural, autosomal-mitochondrial type semapv:UnspecifiedMatching MONDO:0009090 hearing loss, sensorineural, autosomal-mitochondrial type skos:exactMatch UMLS:C1857332 semapv:UnspecifiedMatching MONDO:0009090 hearing loss, sensorineural, autosomal-mitochondrial type skos:exactMatch mesh:C565637 semapv:UnspecifiedMatching MONDO:0009091 non-acquired combined pituitary hormone deficiency with spine abnormalities skos:exactMatch DOID:0061021 combined pituitary hormone deficiency 3 semapv:UnspecifiedMatching MONDO:0009091 non-acquired combined pituitary hormone deficiency with spine abnormalities skos:exactMatch MEDGEN:483740 semapv:UnspecifiedMatching MONDO:0009091 non-acquired combined pituitary hormone deficiency with spine abnormalities skos:exactMatch OMIM:221750 pituitary hormone deficiency, combined, 3 semapv:UnspecifiedMatching MONDO:0009091 non-acquired combined pituitary hormone deficiency with spine abnormalities skos:exactMatch Orphanet:231720 Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome semapv:UnspecifiedMatching MONDO:0009091 non-acquired combined pituitary hormone deficiency with spine abnormalities skos:exactMatch UMLS:C3489787 semapv:UnspecifiedMatching MONDO:0009091 non-acquired combined pituitary hormone deficiency with spine abnormalities skos:exactMatch mesh:C536710 semapv:UnspecifiedMatching MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly skos:exactMatch DOID:0090112 Nasu-Hakola disease semapv:UnspecifiedMatching MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly skos:exactMatch MEDGEN:387795 semapv:UnspecifiedMatching MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly skos:exactMatch OMIMPS:221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly semapv:UnspecifiedMatching MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly skos:exactMatch Orphanet:2770 Nasu-Hakola disease semapv:UnspecifiedMatching MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly skos:exactMatch SCTID:702347001 semapv:UnspecifiedMatching MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly skos:exactMatch UMLS:C1857316 semapv:UnspecifiedMatching MONDO:0009093 dermatoleukodystrophy skos:exactMatch MEDGEN:387794 semapv:UnspecifiedMatching MONDO:0009093 dermatoleukodystrophy skos:exactMatch OMIM:221790 dermatoleukodystrophy semapv:UnspecifiedMatching MONDO:0009093 dermatoleukodystrophy skos:exactMatch Orphanet:1659 Dermatoleukodystrophy semapv:UnspecifiedMatching MONDO:0009093 dermatoleukodystrophy skos:exactMatch SCTID:733044009 semapv:UnspecifiedMatching MONDO:0009093 dermatoleukodystrophy skos:exactMatch UMLS:C1857314 semapv:UnspecifiedMatching MONDO:0009093 dermatoleukodystrophy skos:exactMatch mesh:C538220 semapv:UnspecifiedMatching MONDO:0009094 dermochondrocorneal dystrophy skos:exactMatch MEDGEN:98151 semapv:UnspecifiedMatching MONDO:0009094 dermochondrocorneal dystrophy skos:exactMatch OMIM:221800 dermochondrocorneal dystrophy semapv:UnspecifiedMatching MONDO:0009094 dermochondrocorneal dystrophy skos:exactMatch Orphanet:79149 Dermochondrocorneal dystrophy semapv:UnspecifiedMatching MONDO:0009094 dermochondrocorneal dystrophy skos:exactMatch SCTID:254150007 semapv:UnspecifiedMatching MONDO:0009094 dermochondrocorneal dystrophy skos:exactMatch UMLS:C0432288 semapv:UnspecifiedMatching MONDO:0009094 dermochondrocorneal dystrophy skos:exactMatch icd11.foundation:1305138145 Dermochondrocorneal dystrophy semapv:UnspecifiedMatching MONDO:0009094 dermochondrocorneal dystrophy skos:exactMatch mesh:C535375 semapv:UnspecifiedMatching MONDO:0009095 dermatoosteolysis, Kirghizian type skos:exactMatch MEDGEN:341742 semapv:UnspecifiedMatching MONDO:0009095 dermatoosteolysis, Kirghizian type skos:exactMatch OMIM:221810 dermatoosteolysis, kirghizian type semapv:UnspecifiedMatching MONDO:0009095 dermatoosteolysis, Kirghizian type skos:exactMatch Orphanet:1657 Dermatoosteolysis, Kirghizian type semapv:UnspecifiedMatching MONDO:0009095 dermatoosteolysis, Kirghizian type skos:exactMatch SCTID:721090002 semapv:UnspecifiedMatching MONDO:0009095 dermatoosteolysis, Kirghizian type skos:exactMatch UMLS:C1857301 semapv:UnspecifiedMatching MONDO:0009095 dermatoosteolysis, Kirghizian type skos:exactMatch icd11.foundation:2019080941 Dermatoosteolysis, Kirghizian type semapv:UnspecifiedMatching MONDO:0009095 dermatoosteolysis, Kirghizian type skos:exactMatch mesh:C535373 semapv:UnspecifiedMatching MONDO:0009097 persistent hyperplastic primary vitreous, autosomal recessive skos:exactMatch MEDGEN:370100 semapv:UnspecifiedMatching MONDO:0009097 persistent hyperplastic primary vitreous, autosomal recessive skos:exactMatch OMIM:221900 persistent hyperplastic primary vitreous, autosomal recessive semapv:UnspecifiedMatching MONDO:0009097 persistent hyperplastic primary vitreous, autosomal recessive skos:exactMatch UMLS:C1969783 semapv:UnspecifiedMatching MONDO:0009097 persistent hyperplastic primary vitreous, autosomal recessive skos:exactMatch mesh:C566966 semapv:UnspecifiedMatching MONDO:0009098 dextrocardia with unusual facies and microphthalmia skos:exactMatch MEDGEN:346559 semapv:UnspecifiedMatching MONDO:0009098 dextrocardia with unusual facies and microphthalmia skos:exactMatch OMIM:221950 dextrocardia with unusual facies and microphthalmia semapv:UnspecifiedMatching MONDO:0009098 dextrocardia with unusual facies and microphthalmia skos:exactMatch UMLS:C1857298 semapv:UnspecifiedMatching MONDO:0009098 dextrocardia with unusual facies and microphthalmia skos:exactMatch mesh:C538269 semapv:UnspecifiedMatching MONDO:0009099 nephrogenic diabetes insipidus-intracranial calcification syndrome skos:exactMatch MEDGEN:387791 semapv:UnspecifiedMatching MONDO:0009099 nephrogenic diabetes insipidus-intracranial calcification syndrome skos:exactMatch OMIM:221995 diabetes insipidus, nephrogenic, with impaired intellectual development and intracerebral calcification semapv:UnspecifiedMatching MONDO:0009099 nephrogenic diabetes insipidus-intracranial calcification syndrome skos:exactMatch Orphanet:3145 Arginine vasopressin resistance-intracranial calcification-short stature-facial dysmorphism syndrome semapv:UnspecifiedMatching MONDO:0009099 nephrogenic diabetes insipidus-intracranial calcification syndrome skos:exactMatch SCTID:716200002 semapv:UnspecifiedMatching MONDO:0009099 nephrogenic diabetes insipidus-intracranial calcification syndrome skos:exactMatch UMLS:C1857297 semapv:UnspecifiedMatching MONDO:0009100 type 1 diabetes mellitus 1 skos:exactMatch MEDGEN:1734436 semapv:UnspecifiedMatching MONDO:0009100 type 1 diabetes mellitus 1 skos:exactMatch UMLS:C5435660 semapv:UnspecifiedMatching MONDO:0009101 Wolfram syndrome 1 skos:exactMatch DOID:0110629 Wolfram syndrome 1 semapv:UnspecifiedMatching MONDO:0009101 Wolfram syndrome 1 skos:exactMatch MEDGEN:1641635 semapv:UnspecifiedMatching MONDO:0009101 Wolfram syndrome 1 skos:exactMatch OMIM:222300 wolfram syndrome 1 semapv:UnspecifiedMatching MONDO:0009101 Wolfram syndrome 1 skos:exactMatch UMLS:C4551693 semapv:UnspecifiedMatching MONDO:0009102 diaminopentanuria skos:exactMatch MEDGEN:347412 semapv:UnspecifiedMatching MONDO:0009102 diaminopentanuria skos:exactMatch OMIM:222350 diaminopentanuria semapv:UnspecifiedMatching MONDO:0009102 diaminopentanuria skos:exactMatch UMLS:C1857285 semapv:UnspecifiedMatching MONDO:0009102 diaminopentanuria skos:exactMatch mesh:C565630 semapv:UnspecifiedMatching MONDO:0009103 diaphragmatic hernia 2 skos:exactMatch MEDGEN:347411 semapv:UnspecifiedMatching MONDO:0009103 diaphragmatic hernia 2 skos:exactMatch OMIM:222400 diaphragmatic hernia 2 semapv:UnspecifiedMatching MONDO:0009103 diaphragmatic hernia 2 skos:exactMatch UMLS:C1857284 semapv:UnspecifiedMatching MONDO:0009103 diaphragmatic hernia 2 skos:exactMatch mesh:C565629 semapv:UnspecifiedMatching MONDO:0009104 Donnai-Barrow syndrome skos:exactMatch DOID:0090144 Donnai-Barrow syndrome semapv:UnspecifiedMatching MONDO:0009104 Donnai-Barrow syndrome skos:exactMatch MEDGEN:347406 semapv:UnspecifiedMatching MONDO:0009104 Donnai-Barrow syndrome skos:exactMatch OMIM:222448 donnai-barrow syndrome semapv:UnspecifiedMatching MONDO:0009104 Donnai-Barrow syndrome skos:exactMatch Orphanet:2143 Donnai-Barrow syndrome semapv:UnspecifiedMatching MONDO:0009104 Donnai-Barrow syndrome skos:exactMatch SCTID:702418009 semapv:UnspecifiedMatching MONDO:0009104 Donnai-Barrow syndrome skos:exactMatch UMLS:C1857277 semapv:UnspecifiedMatching MONDO:0009104 Donnai-Barrow syndrome skos:exactMatch mesh:C536390 semapv:UnspecifiedMatching MONDO:0009105 trichohepatoenteric syndrome skos:exactMatch DOID:0111414 trichohepatoenteric syndrome semapv:UnspecifiedMatching MONDO:0009105 trichohepatoenteric syndrome skos:exactMatch MEDGEN:347405 semapv:UnspecifiedMatching MONDO:0009105 trichohepatoenteric syndrome skos:exactMatch OMIMPS:222470 Trichohepatoenteric syndrome semapv:UnspecifiedMatching MONDO:0009105 trichohepatoenteric syndrome skos:exactMatch Orphanet:84064 Syndromic diarrhea semapv:UnspecifiedMatching MONDO:0009105 trichohepatoenteric syndrome skos:exactMatch SCTID:703406006 semapv:UnspecifiedMatching MONDO:0009105 trichohepatoenteric syndrome skos:exactMatch UMLS:C1857276 semapv:UnspecifiedMatching MONDO:0009105 trichohepatoenteric syndrome skos:exactMatch icd11.foundation:1470910753 Syndromic diarrhoea semapv:UnspecifiedMatching MONDO:0009106 diastematomyelia skos:exactMatch ICD10CM:Q06.2 Diastematomyelia semapv:UnspecifiedMatching MONDO:0009106 diastematomyelia skos:exactMatch MEDGEN:3801 semapv:UnspecifiedMatching MONDO:0009106 diastematomyelia skos:exactMatch NCIT:C98913 Diastematomyelia semapv:UnspecifiedMatching MONDO:0009106 diastematomyelia skos:exactMatch OMIM:222500 diastematomyelia semapv:UnspecifiedMatching MONDO:0009106 diastematomyelia skos:exactMatch Orphanet:1671 Split cord malformation type I semapv:UnspecifiedMatching MONDO:0009106 diastematomyelia skos:exactMatch SCTID:49351009 semapv:UnspecifiedMatching MONDO:0009106 diastematomyelia skos:exactMatch UMLS:C0011999 semapv:UnspecifiedMatching MONDO:0009106 diastematomyelia skos:exactMatch icd11.foundation:2070601288 Diastematomyelia semapv:UnspecifiedMatching MONDO:0009107 diastrophic dysplasia skos:exactMatch DOID:14687 diastrophic dysplasia semapv:UnspecifiedMatching MONDO:0009107 diastrophic dysplasia skos:exactMatch ICD10CM:Q77.5 Diastrophic dysplasia semapv:UnspecifiedMatching MONDO:0009107 diastrophic dysplasia skos:exactMatch MEDGEN:113103 semapv:UnspecifiedMatching MONDO:0009107 diastrophic dysplasia skos:exactMatch NCIT:C156311 Diastrophic Dysplasia semapv:UnspecifiedMatching MONDO:0009107 diastrophic dysplasia skos:exactMatch OMIM:222600 diastrophic dysplasia semapv:UnspecifiedMatching MONDO:0009107 diastrophic dysplasia skos:exactMatch Orphanet:628 Diastrophic dysplasia semapv:UnspecifiedMatching MONDO:0009107 diastrophic dysplasia skos:exactMatch SCTID:58561002 semapv:UnspecifiedMatching MONDO:0009107 diastrophic dysplasia skos:exactMatch UMLS:C0220726 semapv:UnspecifiedMatching MONDO:0009107 diastrophic dysplasia skos:exactMatch icd11.foundation:1681550532 Diastrophic dysplasia semapv:UnspecifiedMatching MONDO:0009107 diastrophic dysplasia skos:exactMatch mesh:C536170 semapv:UnspecifiedMatching MONDO:0009108 hyperdibasic aminoaciduria type 1 skos:exactMatch MEDGEN:435997 semapv:UnspecifiedMatching MONDO:0009108 hyperdibasic aminoaciduria type 1 skos:exactMatch OMIM:222690 dibasic amino aciduria 1 semapv:UnspecifiedMatching MONDO:0009108 hyperdibasic aminoaciduria type 1 skos:exactMatch UMLS:C2673736 semapv:UnspecifiedMatching MONDO:0009108 hyperdibasic aminoaciduria type 1 skos:exactMatch icd11.foundation:1522058907 Hyperdibasic aminoaciduria type 1 semapv:UnspecifiedMatching MONDO:0009108 hyperdibasic aminoaciduria type 1 skos:exactMatch mesh:C567132 semapv:UnspecifiedMatching MONDO:0009109 lysinuric protein intolerance skos:exactMatch DOID:0060439 lysinuric protein intolerance semapv:UnspecifiedMatching MONDO:0009109 lysinuric protein intolerance skos:exactMatch MEDGEN:75704 semapv:UnspecifiedMatching MONDO:0009109 lysinuric protein intolerance skos:exactMatch NCIT:C121563 Lysinuric Protein Intolerance semapv:UnspecifiedMatching MONDO:0009109 lysinuric protein intolerance skos:exactMatch OMIM:222700 lysinuric protein intolerance semapv:UnspecifiedMatching MONDO:0009109 lysinuric protein intolerance skos:exactMatch Orphanet:470 Lysinuric protein intolerance semapv:UnspecifiedMatching MONDO:0009109 lysinuric protein intolerance skos:exactMatch SCTID:303852004 semapv:UnspecifiedMatching MONDO:0009109 lysinuric protein intolerance skos:exactMatch UMLS:C0268647 semapv:UnspecifiedMatching MONDO:0009109 lysinuric protein intolerance skos:exactMatch icd11.foundation:972050440 Lysinuric protein intolerance semapv:UnspecifiedMatching MONDO:0009109 lysinuric protein intolerance skos:exactMatch mesh:C562687 semapv:UnspecifiedMatching MONDO:0009110 dicarboxylic aminoaciduria skos:exactMatch DOID:0060650 dicarboxylic aminoaciduria semapv:UnspecifiedMatching MONDO:0009110 dicarboxylic aminoaciduria skos:exactMatch MEDGEN:387782 semapv:UnspecifiedMatching MONDO:0009110 dicarboxylic aminoaciduria skos:exactMatch OMIM:222730 dicarboxylic aminoaciduria semapv:UnspecifiedMatching MONDO:0009110 dicarboxylic aminoaciduria skos:exactMatch Orphanet:2195 Dicarboxylic aminoaciduria semapv:UnspecifiedMatching MONDO:0009110 dicarboxylic aminoaciduria skos:exactMatch SCTID:716747007 semapv:UnspecifiedMatching MONDO:0009110 dicarboxylic aminoaciduria skos:exactMatch UMLS:C1857253 semapv:UnspecifiedMatching MONDO:0009110 dicarboxylic aminoaciduria skos:exactMatch icd11.foundation:1947265216 Dicarboxylic aminoaciduria semapv:UnspecifiedMatching MONDO:0009110 dicarboxylic aminoaciduria skos:exactMatch mesh:C536171 semapv:UnspecifiedMatching MONDO:0009111 dihydropyrimidinuria skos:exactMatch DOID:0111629 dihydropyrimidinase deficiency semapv:UnspecifiedMatching MONDO:0009111 dihydropyrimidinuria skos:exactMatch MEDGEN:83353 semapv:UnspecifiedMatching MONDO:0009111 dihydropyrimidinuria skos:exactMatch OMIM:222748 dihydropyrimidinase deficiency semapv:UnspecifiedMatching MONDO:0009111 dihydropyrimidinuria skos:exactMatch Orphanet:38874 Dihydropyrimidinuria semapv:UnspecifiedMatching MONDO:0009111 dihydropyrimidinuria skos:exactMatch SCTID:238014002 semapv:UnspecifiedMatching MONDO:0009111 dihydropyrimidinuria skos:exactMatch UMLS:C0342803 semapv:UnspecifiedMatching MONDO:0009112 rhizomelic chondrodysplasia punctata type 2 skos:exactMatch DOID:0110852 rhizomelic chondrodysplasia punctata type 2 semapv:UnspecifiedMatching MONDO:0009112 rhizomelic chondrodysplasia punctata type 2 skos:exactMatch MEDGEN:341734 semapv:UnspecifiedMatching MONDO:0009112 rhizomelic chondrodysplasia punctata type 2 skos:exactMatch OMIM:222765 rhizomelic chondrodysplasia punctata, type 2 semapv:UnspecifiedMatching MONDO:0009112 rhizomelic chondrodysplasia punctata type 2 skos:exactMatch Orphanet:309796 Rhizomelic chondrodysplasia punctata type 2 semapv:UnspecifiedMatching MONDO:0009112 rhizomelic chondrodysplasia punctata type 2 skos:exactMatch UMLS:C1857242 semapv:UnspecifiedMatching MONDO:0009112 rhizomelic chondrodysplasia punctata type 2 skos:exactMatch icd11.foundation:179969811 Rhizomelic chondrodysplasia punctata type 2 semapv:UnspecifiedMatching MONDO:0009112 rhizomelic chondrodysplasia punctata type 2 skos:exactMatch mesh:C537607 semapv:UnspecifiedMatching MONDO:0009113 hemolytic anemia due to diphosphoglycerate mutase deficiency skos:exactMatch DOID:0111630 familial erythrocytosis 8 semapv:UnspecifiedMatching MONDO:0009113 hemolytic anemia due to diphosphoglycerate mutase deficiency skos:exactMatch MEDGEN:489898 semapv:UnspecifiedMatching MONDO:0009113 hemolytic anemia due to diphosphoglycerate mutase deficiency skos:exactMatch NCIT:C131638 Bisphosphoglycerate Mutase Deficiency semapv:UnspecifiedMatching MONDO:0009113 hemolytic anemia due to diphosphoglycerate mutase deficiency skos:exactMatch OMIM:222800 erythrocytosis, familial, 8 semapv:UnspecifiedMatching MONDO:0009113 hemolytic anemia due to diphosphoglycerate mutase deficiency skos:exactMatch Orphanet:714 Hemolytic anemia due to diphosphoglycerate mutase deficiency semapv:UnspecifiedMatching MONDO:0009113 hemolytic anemia due to diphosphoglycerate mutase deficiency skos:exactMatch UMLS:C1291620 semapv:UnspecifiedMatching MONDO:0009114 congenital sucrase-isomaltase deficiency skos:exactMatch DOID:0111633 congenital sucrase-isomaltase deficiency semapv:UnspecifiedMatching MONDO:0009114 congenital sucrase-isomaltase deficiency skos:exactMatch MEDGEN:220924 semapv:UnspecifiedMatching MONDO:0009114 congenital sucrase-isomaltase deficiency skos:exactMatch NCIT:C128190 Congenital Sucrase-Isomaltase Deficiency semapv:UnspecifiedMatching MONDO:0009114 congenital sucrase-isomaltase deficiency skos:exactMatch OMIM:222900 sucrase-isomaltase deficiency, congenital semapv:UnspecifiedMatching MONDO:0009114 congenital sucrase-isomaltase deficiency skos:exactMatch Orphanet:35122 Congenital sucrase-isomaltase deficiency semapv:UnspecifiedMatching MONDO:0009114 congenital sucrase-isomaltase deficiency skos:exactMatch SCTID:78373000 semapv:UnspecifiedMatching MONDO:0009114 congenital sucrase-isomaltase deficiency skos:exactMatch UMLS:C1283620 semapv:UnspecifiedMatching MONDO:0009114 congenital sucrase-isomaltase deficiency skos:exactMatch icd11.foundation:1817406536 Congenital sucrase-isomaltase deficiency semapv:UnspecifiedMatching MONDO:0009114 congenital sucrase-isomaltase deficiency skos:exactMatch mesh:C538139 semapv:UnspecifiedMatching MONDO:0009115 congenital lactase deficiency skos:exactMatch DOID:0111646 congenital lactase deficiency semapv:UnspecifiedMatching MONDO:0009115 congenital lactase deficiency skos:exactMatch ICD10CM:E73.0 Congenital lactase deficiency semapv:UnspecifiedMatching MONDO:0009115 congenital lactase deficiency skos:exactMatch MEDGEN:120617 semapv:UnspecifiedMatching MONDO:0009115 congenital lactase deficiency skos:exactMatch OMIM:223000 lactase deficiency, congenital semapv:UnspecifiedMatching MONDO:0009115 congenital lactase deficiency skos:exactMatch Orphanet:53690 Congenital lactase deficiency semapv:UnspecifiedMatching MONDO:0009115 congenital lactase deficiency skos:exactMatch SCTID:5388008 semapv:UnspecifiedMatching MONDO:0009115 congenital lactase deficiency skos:exactMatch UMLS:C0268179 semapv:UnspecifiedMatching MONDO:0009115 congenital lactase deficiency skos:exactMatch icd11.foundation:2109252471 Congenital lactase deficiency semapv:UnspecifiedMatching MONDO:0009115 congenital lactase deficiency skos:exactMatch mesh:C562600 semapv:UnspecifiedMatching MONDO:0009117 obsolete disorganization, mouse, homolog of skos:exactMatch OMIM:223200 disorganization, mouse, homolog of semapv:UnspecifiedMatching MONDO:0009118 disseminated sclerosis with narcolepsy skos:exactMatch MEDGEN:341731 semapv:UnspecifiedMatching MONDO:0009118 disseminated sclerosis with narcolepsy skos:exactMatch OMIM:223300 disseminated sclerosis with narcolepsy semapv:UnspecifiedMatching MONDO:0009118 disseminated sclerosis with narcolepsy skos:exactMatch UMLS:C1857229 semapv:UnspecifiedMatching MONDO:0009118 disseminated sclerosis with narcolepsy skos:exactMatch mesh:C565621 semapv:UnspecifiedMatching MONDO:0009119 diverticulosis, small-intestinal skos:exactMatch MEDGEN:341730 semapv:UnspecifiedMatching MONDO:0009119 diverticulosis, small-intestinal skos:exactMatch OMIM:223320 diverticulosis, small-intestinal semapv:UnspecifiedMatching MONDO:0009119 diverticulosis, small-intestinal skos:exactMatch UMLS:C1857228 semapv:UnspecifiedMatching MONDO:0009119 diverticulosis, small-intestinal skos:exactMatch mesh:C565620 semapv:UnspecifiedMatching MONDO:0009120 diverticulosis of bowel, hernia, and retinal detachment skos:exactMatch MEDGEN:341729 semapv:UnspecifiedMatching MONDO:0009120 diverticulosis of bowel, hernia, and retinal detachment skos:exactMatch OMIM:223330 diverticulosis of bowel, hernia, and retinal detachment semapv:UnspecifiedMatching MONDO:0009120 diverticulosis of bowel, hernia, and retinal detachment skos:exactMatch Orphanet:2464 Marfanoid syndrome, De Silva type semapv:UnspecifiedMatching MONDO:0009120 diverticulosis of bowel, hernia, and retinal detachment skos:exactMatch UMLS:C1857227 semapv:UnspecifiedMatching MONDO:0009120 diverticulosis of bowel, hernia, and retinal detachment skos:exactMatch mesh:C565619 semapv:UnspecifiedMatching MONDO:0009121 von Voss-Cherstvoy syndrome skos:exactMatch MEDGEN:341728 semapv:UnspecifiedMatching MONDO:0009121 von Voss-Cherstvoy syndrome skos:exactMatch OMIM:223340 dk phocomelia syndrome semapv:UnspecifiedMatching MONDO:0009121 von Voss-Cherstvoy syndrome skos:exactMatch Orphanet:3439 Von Voss-Cherstvoy syndrome semapv:UnspecifiedMatching MONDO:0009121 von Voss-Cherstvoy syndrome skos:exactMatch SCTID:719021005 semapv:UnspecifiedMatching MONDO:0009121 von Voss-Cherstvoy syndrome skos:exactMatch UMLS:C1857226 semapv:UnspecifiedMatching MONDO:0009121 von Voss-Cherstvoy syndrome skos:exactMatch mesh:C565618 semapv:UnspecifiedMatching MONDO:0009122 Dohle bodies and leukemia skos:exactMatch MEDGEN:346548 semapv:UnspecifiedMatching MONDO:0009122 Dohle bodies and leukemia skos:exactMatch OMIM:223350 dohle bodies and leukemia semapv:UnspecifiedMatching MONDO:0009122 Dohle bodies and leukemia skos:exactMatch UMLS:C1857225 semapv:UnspecifiedMatching MONDO:0009122 Dohle bodies and leukemia skos:exactMatch mesh:C565617 semapv:UnspecifiedMatching MONDO:0009123 orthostatic hypotension 1 skos:exactMatch DOID:0090145 dopamine beta-hydroxylase deficiency semapv:UnspecifiedMatching MONDO:0009123 orthostatic hypotension 1 skos:exactMatch MEDGEN:1648402 semapv:UnspecifiedMatching MONDO:0009123 orthostatic hypotension 1 skos:exactMatch OMIM:223360 orthostatic hypotension 1 semapv:UnspecifiedMatching MONDO:0009123 orthostatic hypotension 1 skos:exactMatch Orphanet:230 Dopamine beta-hydroxylase deficiency semapv:UnspecifiedMatching MONDO:0009123 orthostatic hypotension 1 skos:exactMatch SCTID:237923004 semapv:UnspecifiedMatching MONDO:0009123 orthostatic hypotension 1 skos:exactMatch UMLS:C4746777 semapv:UnspecifiedMatching MONDO:0009123 orthostatic hypotension 1 skos:exactMatch mesh:C535600 semapv:UnspecifiedMatching MONDO:0009124 Dubowitz syndrome skos:exactMatch DOID:14796 Dubowitz syndrome semapv:UnspecifiedMatching MONDO:0009124 Dubowitz syndrome skos:exactMatch MEDGEN:59797 semapv:UnspecifiedMatching MONDO:0009124 Dubowitz syndrome skos:exactMatch NCIT:C125591 Dubowitz Syndrome semapv:UnspecifiedMatching MONDO:0009124 Dubowitz syndrome skos:exactMatch OMIM:223370 dubowitz syndrome semapv:UnspecifiedMatching MONDO:0009124 Dubowitz syndrome skos:exactMatch Orphanet:235 Dubowitz syndrome semapv:UnspecifiedMatching MONDO:0009124 Dubowitz syndrome skos:exactMatch SCTID:2593002 semapv:UnspecifiedMatching MONDO:0009124 Dubowitz syndrome skos:exactMatch UMLS:C0175691 semapv:UnspecifiedMatching MONDO:0009124 Dubowitz syndrome skos:exactMatch icd11.foundation:758537040 Dubowitz syndrome semapv:UnspecifiedMatching MONDO:0009124 Dubowitz syndrome skos:exactMatch mesh:C535718 semapv:UnspecifiedMatching MONDO:0009125 obsolete dopamine beta-hydroxylase, plasma, thermolability of skos:exactMatch OMIM:223380 dopamine beta-hydroxylase, plasma, thermolability of semapv:UnspecifiedMatching MONDO:0009126 duodenal atresia skos:exactMatch DOID:0080216 duodenal atresia semapv:UnspecifiedMatching MONDO:0009126 duodenal atresia skos:exactMatch MEDGEN:75602 semapv:UnspecifiedMatching MONDO:0009126 duodenal atresia skos:exactMatch NCIT:C101025 Duodenal Atresia semapv:UnspecifiedMatching MONDO:0009126 duodenal atresia skos:exactMatch OMIM:223400 duodenal atresia semapv:UnspecifiedMatching MONDO:0009126 duodenal atresia skos:exactMatch Orphanet:1203 Duodenal atresia semapv:UnspecifiedMatching MONDO:0009126 duodenal atresia skos:exactMatch SCTID:51118003 semapv:UnspecifiedMatching MONDO:0009126 duodenal atresia skos:exactMatch UMLS:C0266174 semapv:UnspecifiedMatching MONDO:0009126 duodenal atresia skos:exactMatch icd11.foundation:295550633 Atresia of duodenum semapv:UnspecifiedMatching MONDO:0009126 duodenal atresia skos:exactMatch mesh:C535720 semapv:UnspecifiedMatching MONDO:0009127 dwarfism, low-birth-weight type, with unresponsiveness to growth hormone skos:exactMatch MEDGEN:387764 semapv:UnspecifiedMatching MONDO:0009127 dwarfism, low-birth-weight type, with unresponsiveness to growth hormone skos:exactMatch OMIM:223500 dwarfism, low-birth-weight type, with unresponsiveness to growth hormone semapv:UnspecifiedMatching MONDO:0009127 dwarfism, low-birth-weight type, with unresponsiveness to growth hormone skos:exactMatch UMLS:C1857197 semapv:UnspecifiedMatching MONDO:0009127 dwarfism, low-birth-weight type, with unresponsiveness to growth hormone skos:exactMatch mesh:C565615 semapv:UnspecifiedMatching MONDO:0009128 dwarfism, intellectual disability, and eye abnormality skos:exactMatch MEDGEN:208664 semapv:UnspecifiedMatching MONDO:0009128 dwarfism, intellectual disability, and eye abnormality skos:exactMatch OMIM:223540 mollica syndrome semapv:UnspecifiedMatching MONDO:0009128 dwarfism, intellectual disability, and eye abnormality skos:exactMatch UMLS:C0796076 semapv:UnspecifiedMatching MONDO:0009128 dwarfism, intellectual disability, and eye abnormality skos:exactMatch mesh:C535809 semapv:UnspecifiedMatching MONDO:0009129 dwarfism, proportionate, with hip dislocation skos:exactMatch MEDGEN:347392 semapv:UnspecifiedMatching MONDO:0009129 dwarfism, proportionate, with hip dislocation skos:exactMatch OMIM:223550 dwarfism, proportionate, with hip dislocation semapv:UnspecifiedMatching MONDO:0009129 dwarfism, proportionate, with hip dislocation skos:exactMatch UMLS:C1857196 semapv:UnspecifiedMatching MONDO:0009129 dwarfism, proportionate, with hip dislocation skos:exactMatch mesh:C565614 semapv:UnspecifiedMatching MONDO:0009130 Dyggve-Melchior-Clausen disease skos:exactMatch DOID:0111167 Dyggve-Melchior-Clausen disease semapv:UnspecifiedMatching MONDO:0009130 Dyggve-Melchior-Clausen disease skos:exactMatch MEDGEN:120527 semapv:UnspecifiedMatching MONDO:0009130 Dyggve-Melchior-Clausen disease skos:exactMatch NCIT:C124844 Dyggve-Melchior-Clausen Syndrome semapv:UnspecifiedMatching MONDO:0009130 Dyggve-Melchior-Clausen disease skos:exactMatch OMIM:223800 dyggve-melchior-clausen disease semapv:UnspecifiedMatching MONDO:0009130 Dyggve-Melchior-Clausen disease skos:exactMatch Orphanet:239 Dyggve-Melchior-Clausen disease semapv:UnspecifiedMatching MONDO:0009130 Dyggve-Melchior-Clausen disease skos:exactMatch SCTID:82699004 semapv:UnspecifiedMatching MONDO:0009130 Dyggve-Melchior-Clausen disease skos:exactMatch UMLS:C0265286 semapv:UnspecifiedMatching MONDO:0009130 Dyggve-Melchior-Clausen disease skos:exactMatch icd11.foundation:21266164 Dyggve-Melchior-Clausen disease semapv:UnspecifiedMatching MONDO:0009131 Riley-Day syndrome skos:exactMatch DOID:11589 Riley-Day syndrome semapv:UnspecifiedMatching MONDO:0009131 Riley-Day syndrome skos:exactMatch ICD10CM:G90.1 Familial dysautonomia [Riley-Day] semapv:UnspecifiedMatching MONDO:0009131 Riley-Day syndrome skos:exactMatch MEDGEN:41678 semapv:UnspecifiedMatching MONDO:0009131 Riley-Day syndrome skos:exactMatch NCIT:C84706 Familial Dysautonomia semapv:UnspecifiedMatching MONDO:0009131 Riley-Day syndrome skos:exactMatch OMIM:223900 dysautonomia, familial semapv:UnspecifiedMatching MONDO:0009131 Riley-Day syndrome skos:exactMatch Orphanet:1764 Familial dysautonomia semapv:UnspecifiedMatching MONDO:0009131 Riley-Day syndrome skos:exactMatch SCTID:29159009 semapv:UnspecifiedMatching MONDO:0009131 Riley-Day syndrome skos:exactMatch UMLS:C0013364 semapv:UnspecifiedMatching MONDO:0009131 Riley-Day syndrome skos:exactMatch icd11.foundation:831377479 Hereditary sensory and autonomic neuropathy type III semapv:UnspecifiedMatching MONDO:0009131 Riley-Day syndrome skos:exactMatch mesh:D004402 semapv:UnspecifiedMatching MONDO:0009132 dysautonomia-like disorder skos:exactMatch MEDGEN:347385 semapv:UnspecifiedMatching MONDO:0009132 dysautonomia-like disorder skos:exactMatch OMIM:224000 dysautonomia-like disorder semapv:UnspecifiedMatching MONDO:0009132 dysautonomia-like disorder skos:exactMatch UMLS:C1857153 semapv:UnspecifiedMatching MONDO:0009132 dysautonomia-like disorder skos:exactMatch mesh:C535728 semapv:UnspecifiedMatching MONDO:0009133 cerebellar ataxia, intellectual disability, and dysequilibrium skos:exactMatch DOID:0050997 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome semapv:UnspecifiedMatching MONDO:0009133 cerebellar ataxia, intellectual disability, and dysequilibrium skos:exactMatch MEDGEN:98295 semapv:UnspecifiedMatching MONDO:0009133 cerebellar ataxia, intellectual disability, and dysequilibrium skos:exactMatch NCIT:C114781 Dialysis Disequilibrium Syndrome semapv:UnspecifiedMatching MONDO:0009133 cerebellar ataxia, intellectual disability, and dysequilibrium skos:exactMatch OMIMPS:224050 Cerebellar ataxia, mental retardation, and dysequilibrium semapv:UnspecifiedMatching MONDO:0009133 cerebellar ataxia, intellectual disability, and dysequilibrium skos:exactMatch Orphanet:1766 Dysequilibrium syndrome semapv:UnspecifiedMatching MONDO:0009133 cerebellar ataxia, intellectual disability, and dysequilibrium skos:exactMatch SCTID:230782004 semapv:UnspecifiedMatching MONDO:0009133 cerebellar ataxia, intellectual disability, and dysequilibrium skos:exactMatch UMLS:C0394006 semapv:UnspecifiedMatching MONDO:0009133 cerebellar ataxia, intellectual disability, and dysequilibrium skos:exactMatch mesh:C535731 semapv:UnspecifiedMatching MONDO:0009134 congenital dyserythropoietic anemia type 2 skos:exactMatch DOID:0111401 congenital dyserythropoietic anemia type II semapv:UnspecifiedMatching MONDO:0009134 congenital dyserythropoietic anemia type 2 skos:exactMatch MEDGEN:266296 semapv:UnspecifiedMatching MONDO:0009134 congenital dyserythropoietic anemia type 2 skos:exactMatch OMIM:224100 anemia, congenital dyserythropoietic, type 2 semapv:UnspecifiedMatching MONDO:0009134 congenital dyserythropoietic anemia type 2 skos:exactMatch Orphanet:98873 Congenital dyserythropoietic anemia type II semapv:UnspecifiedMatching MONDO:0009134 congenital dyserythropoietic anemia type 2 skos:exactMatch SCTID:68870007 semapv:UnspecifiedMatching MONDO:0009134 congenital dyserythropoietic anemia type 2 skos:exactMatch UMLS:C1306589 semapv:UnspecifiedMatching MONDO:0009135 anemia, congenital dyserythropoietic, type 1a skos:exactMatch DOID:0111398 congenital dyserythropoietic anemia type Ia semapv:UnspecifiedMatching MONDO:0009135 anemia, congenital dyserythropoietic, type 1a skos:exactMatch MEDGEN:1807106 semapv:UnspecifiedMatching MONDO:0009135 anemia, congenital dyserythropoietic, type 1a skos:exactMatch OMIM:224120 anemia, congenital dyserythropoietic, type ia semapv:UnspecifiedMatching MONDO:0009135 anemia, congenital dyserythropoietic, type 1a skos:exactMatch UMLS:C5574667 semapv:UnspecifiedMatching MONDO:0009136 dyskeratosis congenita, autosomal recessive 1 skos:exactMatch DOID:0070015 autosomal recessive dyskeratosis congenita 1 semapv:UnspecifiedMatching MONDO:0009136 dyskeratosis congenita, autosomal recessive 1 skos:exactMatch MEDGEN:341705 semapv:UnspecifiedMatching MONDO:0009136 dyskeratosis congenita, autosomal recessive 1 skos:exactMatch NCIT:C176925 Dyskeratosis Congenita, Autosomal Recessive 1 semapv:UnspecifiedMatching MONDO:0009136 dyskeratosis congenita, autosomal recessive 1 skos:exactMatch OMIM:224230 dyskeratosis congenita, autosomal recessive 1 semapv:UnspecifiedMatching MONDO:0009136 dyskeratosis congenita, autosomal recessive 1 skos:exactMatch SCTID:707272006 semapv:UnspecifiedMatching MONDO:0009136 dyskeratosis congenita, autosomal recessive 1 skos:exactMatch UMLS:C1857144 semapv:UnspecifiedMatching MONDO:0009136 dyskeratosis congenita, autosomal recessive 1 skos:exactMatch mesh:C565611 semapv:UnspecifiedMatching MONDO:0009137 dysmyelination with jaundice skos:exactMatch MEDGEN:346526 semapv:UnspecifiedMatching MONDO:0009137 dysmyelination with jaundice skos:exactMatch OMIM:224250 dysmyelination with jaundice semapv:UnspecifiedMatching MONDO:0009137 dysmyelination with jaundice skos:exactMatch UMLS:C1857143 semapv:UnspecifiedMatching MONDO:0009137 dysmyelination with jaundice skos:exactMatch mesh:C565610 semapv:UnspecifiedMatching MONDO:0009138 dysosteosclerosis skos:exactMatch MEDGEN:98150 semapv:UnspecifiedMatching MONDO:0009138 dysosteosclerosis skos:exactMatch OMIM:224300 dysosteosclerosis semapv:UnspecifiedMatching MONDO:0009138 dysosteosclerosis skos:exactMatch Orphanet:1782 Dysosteosclerosis semapv:UnspecifiedMatching MONDO:0009138 dysosteosclerosis skos:exactMatch SCTID:254123002 semapv:UnspecifiedMatching MONDO:0009138 dysosteosclerosis skos:exactMatch UMLS:C0432262 semapv:UnspecifiedMatching MONDO:0009138 dysosteosclerosis skos:exactMatch icd11.foundation:1853176074 Dysosteosclerosis semapv:UnspecifiedMatching MONDO:0009138 dysosteosclerosis skos:exactMatch mesh:C562973 semapv:UnspecifiedMatching MONDO:0009139 dyssegmental dysplasia, Rolland-Desbuquois type skos:exactMatch MEDGEN:98145 semapv:UnspecifiedMatching MONDO:0009139 dyssegmental dysplasia, Rolland-Desbuquois type skos:exactMatch OMIM:224400 dyssegmental dysplasia, rolland-desbuquois type semapv:UnspecifiedMatching MONDO:0009139 dyssegmental dysplasia, Rolland-Desbuquois type skos:exactMatch Orphanet:156731 Dyssegmental dysplasia, Rolland-Desbuquois type semapv:UnspecifiedMatching MONDO:0009139 dyssegmental dysplasia, Rolland-Desbuquois type skos:exactMatch SCTID:95243004 semapv:UnspecifiedMatching MONDO:0009139 dyssegmental dysplasia, Rolland-Desbuquois type skos:exactMatch UMLS:C0432209 semapv:UnspecifiedMatching MONDO:0009139 dyssegmental dysplasia, Rolland-Desbuquois type skos:exactMatch icd11.foundation:1291444727 Dyssegmental dysplasia, Rolland-Desbuquois type semapv:UnspecifiedMatching MONDO:0009139 dyssegmental dysplasia, Rolland-Desbuquois type skos:exactMatch mesh:C537999 semapv:UnspecifiedMatching MONDO:0009140 Silverman-Handmaker type dyssegmental dysplasia skos:exactMatch DOID:0090032 Silverman-Handmaker type dyssegmental dysplasia semapv:UnspecifiedMatching MONDO:0009140 Silverman-Handmaker type dyssegmental dysplasia skos:exactMatch MEDGEN:347372 semapv:UnspecifiedMatching MONDO:0009140 Silverman-Handmaker type dyssegmental dysplasia skos:exactMatch OMIM:224410 dyssegmental dysplasia, silverman-handmaker type semapv:UnspecifiedMatching MONDO:0009140 Silverman-Handmaker type dyssegmental dysplasia skos:exactMatch Orphanet:1865 Dyssegmental dysplasia, Silverman-Handmaker type semapv:UnspecifiedMatching MONDO:0009140 Silverman-Handmaker type dyssegmental dysplasia skos:exactMatch SCTID:93132001 semapv:UnspecifiedMatching MONDO:0009140 Silverman-Handmaker type dyssegmental dysplasia skos:exactMatch UMLS:C1857100 semapv:UnspecifiedMatching MONDO:0009140 Silverman-Handmaker type dyssegmental dysplasia skos:exactMatch mesh:C537998 semapv:UnspecifiedMatching MONDO:0009141 torsion dystonia 2 skos:exactMatch DOID:0090038 torsion dystonia 2 semapv:UnspecifiedMatching MONDO:0009141 torsion dystonia 2 skos:exactMatch MEDGEN:346511 semapv:UnspecifiedMatching MONDO:0009141 torsion dystonia 2 skos:exactMatch NCIT:C123415 Autosomal Recessive Torsion Dystonia 2 semapv:UnspecifiedMatching MONDO:0009141 torsion dystonia 2 skos:exactMatch OMIM:224500 dystonia 2, torsion, autosomal recessive semapv:UnspecifiedMatching MONDO:0009141 torsion dystonia 2 skos:exactMatch Orphanet:99657 Primary dystonia, DYT2 type semapv:UnspecifiedMatching MONDO:0009141 torsion dystonia 2 skos:exactMatch UMLS:C1857093 semapv:UnspecifiedMatching MONDO:0009141 torsion dystonia 2 skos:exactMatch mesh:C538006 semapv:UnspecifiedMatching MONDO:0009142 dystonia with Ringbinden skos:exactMatch MEDGEN:346509 semapv:UnspecifiedMatching MONDO:0009142 dystonia with Ringbinden skos:exactMatch OMIM:224550 dystonia with ringbinden semapv:UnspecifiedMatching MONDO:0009142 dystonia with Ringbinden skos:exactMatch UMLS:C1857089 semapv:UnspecifiedMatching MONDO:0009142 dystonia with Ringbinden skos:exactMatch mesh:C565608 semapv:UnspecifiedMatching MONDO:0009143 Meier-Gorlin syndrome 1 skos:exactMatch DOID:0080512 Meier-Gorlin syndrome 1 semapv:UnspecifiedMatching MONDO:0009143 Meier-Gorlin syndrome 1 skos:exactMatch MEDGEN:1641240 semapv:UnspecifiedMatching MONDO:0009143 Meier-Gorlin syndrome 1 skos:exactMatch OMIM:224690 meier-gorlin syndrome 1 semapv:UnspecifiedMatching MONDO:0009143 Meier-Gorlin syndrome 1 skos:exactMatch SCTID:703508009 semapv:UnspecifiedMatching MONDO:0009143 Meier-Gorlin syndrome 1 skos:exactMatch UMLS:C4552001 semapv:UnspecifiedMatching MONDO:0009144 Ebstein anomaly skos:exactMatch DOID:14289 Ebstein anomaly semapv:UnspecifiedMatching MONDO:0009144 Ebstein anomaly skos:exactMatch EFO:0007244 semapv:UnspecifiedMatching MONDO:0009144 Ebstein anomaly skos:exactMatch ICD10CM:Q22.5 Ebstein's anomaly semapv:UnspecifiedMatching MONDO:0009144 Ebstein anomaly skos:exactMatch MEDGEN:4435 semapv:UnspecifiedMatching MONDO:0009144 Ebstein anomaly skos:exactMatch NCIT:C84681 Ebstein Anomaly semapv:UnspecifiedMatching MONDO:0009144 Ebstein anomaly skos:exactMatch OMIM:224700 ebstein anomaly semapv:UnspecifiedMatching MONDO:0009144 Ebstein anomaly skos:exactMatch Orphanet:1880 Ebstein malformation of the tricuspid valve semapv:UnspecifiedMatching MONDO:0009144 Ebstein anomaly skos:exactMatch UMLS:C0013481 semapv:UnspecifiedMatching MONDO:0009144 Ebstein anomaly skos:exactMatch icd11.foundation:307157712 Ebstein malformation of tricuspid valve semapv:UnspecifiedMatching MONDO:0009144 Ebstein anomaly skos:exactMatch mesh:D004437 semapv:UnspecifiedMatching MONDO:0009145 Schöpf-Schulz-Passarge syndrome skos:exactMatch DOID:0111647 Schopf-Schulz-Passarge syndrome semapv:UnspecifiedMatching MONDO:0009145 Schöpf-Schulz-Passarge syndrome skos:exactMatch MEDGEN:347366 semapv:UnspecifiedMatching MONDO:0009145 Schöpf-Schulz-Passarge syndrome skos:exactMatch OMIM:224750 schopf-schulz-passarge syndrome semapv:UnspecifiedMatching MONDO:0009145 Schöpf-Schulz-Passarge syndrome skos:exactMatch Orphanet:50944 Schöpf-Schulz-Passarge syndrome semapv:UnspecifiedMatching MONDO:0009145 Schöpf-Schulz-Passarge syndrome skos:exactMatch SCTID:700062000 semapv:UnspecifiedMatching MONDO:0009145 Schöpf-Schulz-Passarge syndrome skos:exactMatch UMLS:C1857069 semapv:UnspecifiedMatching MONDO:0009145 Schöpf-Schulz-Passarge syndrome skos:exactMatch mesh:C565607 semapv:UnspecifiedMatching MONDO:0009146 ectodermal dysplasia-sensorineural deafness syndrome skos:exactMatch MEDGEN:346503 semapv:UnspecifiedMatching MONDO:0009146 ectodermal dysplasia-sensorineural deafness syndrome skos:exactMatch OMIM:224800 ectodermal dysplasia and neurosensory deafness semapv:UnspecifiedMatching MONDO:0009146 ectodermal dysplasia-sensorineural deafness syndrome skos:exactMatch Orphanet:1883 Ectodermal dysplasia-sensorineural deafness syndrome semapv:UnspecifiedMatching MONDO:0009146 ectodermal dysplasia-sensorineural deafness syndrome skos:exactMatch UMLS:C1857068 semapv:UnspecifiedMatching MONDO:0009146 ectodermal dysplasia-sensorineural deafness syndrome skos:exactMatch mesh:C535757 semapv:UnspecifiedMatching MONDO:0009146 ectodermal dysplasia-sensorineural deafness syndrome skos:exactMatch mesh:C565606 semapv:UnspecifiedMatching MONDO:0009147 ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive skos:exactMatch DOID:0111665 ectodermal dysplasia 10B semapv:UnspecifiedMatching MONDO:0009147 ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive skos:exactMatch MEDGEN:854356 semapv:UnspecifiedMatching MONDO:0009147 ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive skos:exactMatch OMIM:224900 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive semapv:UnspecifiedMatching MONDO:0009147 ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive skos:exactMatch UMLS:C3887494 semapv:UnspecifiedMatching MONDO:0009148 Rosselli-Gulienetti syndrome skos:exactMatch MEDGEN:163221 semapv:UnspecifiedMatching MONDO:0009148 Rosselli-Gulienetti syndrome skos:exactMatch OMIM:225000 rosselli-gulienetti syndrome semapv:UnspecifiedMatching MONDO:0009148 Rosselli-Gulienetti syndrome skos:exactMatch UMLS:C0796139 semapv:UnspecifiedMatching MONDO:0009148 Rosselli-Gulienetti syndrome skos:exactMatch icd11.foundation:1430451924 Rosselli-Gulienetti syndrome semapv:UnspecifiedMatching MONDO:0009148 Rosselli-Gulienetti syndrome skos:exactMatch mesh:C563117 semapv:UnspecifiedMatching MONDO:0009149 ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome skos:exactMatch MEDGEN:347363 semapv:UnspecifiedMatching MONDO:0009149 ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome skos:exactMatch OMIM:225040 ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum semapv:UnspecifiedMatching MONDO:0009149 ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome skos:exactMatch Orphanet:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome semapv:UnspecifiedMatching MONDO:0009149 ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome skos:exactMatch UMLS:C1857053 semapv:UnspecifiedMatching MONDO:0009149 ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome skos:exactMatch mesh:C565605 semapv:UnspecifiedMatching MONDO:0009150 hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome skos:exactMatch MEDGEN:384046 semapv:UnspecifiedMatching MONDO:0009150 hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome skos:exactMatch OMIM:225050 ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia semapv:UnspecifiedMatching MONDO:0009150 hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome skos:exactMatch Orphanet:1882 Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome semapv:UnspecifiedMatching MONDO:0009150 hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome skos:exactMatch SCTID:239050000 semapv:UnspecifiedMatching MONDO:0009150 hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome skos:exactMatch UMLS:C1857052 semapv:UnspecifiedMatching MONDO:0009150 hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome skos:exactMatch mesh:C565604 semapv:UnspecifiedMatching MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome skos:exactMatch DOID:0060773 cleft lip-palate-ectodermal dysplasia syndrome semapv:UnspecifiedMatching MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome skos:exactMatch MEDGEN:444067 semapv:UnspecifiedMatching MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome skos:exactMatch NCIT:C122656 Cleft Lip/Palate-Ectodermal Dysplasia Syndrome semapv:UnspecifiedMatching MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome skos:exactMatch OMIM:225060 cleft lip/palate-ectodermal dysplasia syndrome semapv:UnspecifiedMatching MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome skos:exactMatch Orphanet:3253 Cleft lip/palate-ectodermal dysplasia syndrome semapv:UnspecifiedMatching MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome skos:exactMatch SCTID:716248001 semapv:UnspecifiedMatching MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome skos:exactMatch UMLS:C2931488 semapv:UnspecifiedMatching MONDO:0009152 ectopia lentis 2, isolated, autosomal recessive skos:exactMatch DOID:0111149 autosomal recessive isolated ectopia lentis 2 semapv:UnspecifiedMatching MONDO:0009152 ectopia lentis 2, isolated, autosomal recessive skos:exactMatch MEDGEN:762100 semapv:UnspecifiedMatching MONDO:0009152 ectopia lentis 2, isolated, autosomal recessive skos:exactMatch OMIM:225100 ectopia lentis 2, isolated, autosomal recessive semapv:UnspecifiedMatching MONDO:0009152 ectopia lentis 2, isolated, autosomal recessive skos:exactMatch UMLS:C3541474 semapv:UnspecifiedMatching MONDO:0009153 ectopia lentis et pupillae skos:exactMatch DOID:0111648 ectopia lentis with ectopia of pupil semapv:UnspecifiedMatching MONDO:0009153 ectopia lentis et pupillae skos:exactMatch MEDGEN:301316 semapv:UnspecifiedMatching MONDO:0009153 ectopia lentis et pupillae skos:exactMatch OMIM:225200 ectopia lentis et pupillae semapv:UnspecifiedMatching MONDO:0009153 ectopia lentis et pupillae skos:exactMatch SCTID:419237004 semapv:UnspecifiedMatching MONDO:0009153 ectopia lentis et pupillae skos:exactMatch UMLS:C1644196 semapv:UnspecifiedMatching MONDO:0009153 ectopia lentis et pupillae skos:exactMatch mesh:C563268 semapv:UnspecifiedMatching MONDO:0009154 hypothyroidism, congenital, nongoitrous, 5 skos:exactMatch DOID:0070125 congenital nongoitrous hypothyroidism 5 semapv:UnspecifiedMatching MONDO:0009154 hypothyroidism, congenital, nongoitrous, 5 skos:exactMatch MEDGEN:388687 semapv:UnspecifiedMatching MONDO:0009154 hypothyroidism, congenital, nongoitrous, 5 skos:exactMatch OMIM:225250 hypothyroidism, congenital, nongoitrous, 5 semapv:UnspecifiedMatching MONDO:0009154 hypothyroidism, congenital, nongoitrous, 5 skos:exactMatch UMLS:C2673630 semapv:UnspecifiedMatching MONDO:0009154 hypothyroidism, congenital, nongoitrous, 5 skos:exactMatch mesh:C567123 semapv:UnspecifiedMatching MONDO:0009155 EEM syndrome skos:exactMatch DOID:0111649 ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome semapv:UnspecifiedMatching MONDO:0009155 EEM syndrome skos:exactMatch MEDGEN:341679 semapv:UnspecifiedMatching MONDO:0009155 EEM syndrome skos:exactMatch OMIM:225280 ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome semapv:UnspecifiedMatching MONDO:0009155 EEM syndrome skos:exactMatch Orphanet:1897 EEM syndrome semapv:UnspecifiedMatching MONDO:0009155 EEM syndrome skos:exactMatch SCTID:720856002 semapv:UnspecifiedMatching MONDO:0009155 EEM syndrome skos:exactMatch UMLS:C1857041 semapv:UnspecifiedMatching MONDO:0009155 EEM syndrome skos:exactMatch mesh:C536190 semapv:UnspecifiedMatching MONDO:0009156 ectrodactyly-polydactyly syndrome skos:exactMatch MEDGEN:384042 semapv:UnspecifiedMatching MONDO:0009156 ectrodactyly-polydactyly syndrome skos:exactMatch OMIM:225290 ectrodactyly-polydactyly semapv:UnspecifiedMatching MONDO:0009156 ectrodactyly-polydactyly syndrome skos:exactMatch Orphanet:1892 Ectrodactyly-polydactyly syndrome semapv:UnspecifiedMatching MONDO:0009156 ectrodactyly-polydactyly syndrome skos:exactMatch UMLS:C1857040 semapv:UnspecifiedMatching MONDO:0009156 ectrodactyly-polydactyly syndrome skos:exactMatch mesh:C565601 semapv:UnspecifiedMatching MONDO:0009157 split hand-foot malformation 6 skos:exactMatch DOID:0090026 split hand-foot malformation 6 semapv:UnspecifiedMatching MONDO:0009157 split hand-foot malformation 6 skos:exactMatch MEDGEN:440845 semapv:UnspecifiedMatching MONDO:0009157 split hand-foot malformation 6 skos:exactMatch OMIM:225300 split-hand/foot malformation 6 semapv:UnspecifiedMatching MONDO:0009157 split hand-foot malformation 6 skos:exactMatch UMLS:C2749665 semapv:UnspecifiedMatching MONDO:0009157 split hand-foot malformation 6 skos:exactMatch mesh:C567616 semapv:UnspecifiedMatching MONDO:0009158 Ehlers-Danlos syndrome, fibronectinemic type skos:exactMatch MEDGEN:346497 semapv:UnspecifiedMatching MONDO:0009158 Ehlers-Danlos syndrome, fibronectinemic type skos:exactMatch OMIM:225310 ehlers-danlos syndrome with platelet dysfunction from fibronectin abnormality semapv:UnspecifiedMatching MONDO:0009158 Ehlers-Danlos syndrome, fibronectinemic type skos:exactMatch SCTID:83586000 semapv:UnspecifiedMatching MONDO:0009158 Ehlers-Danlos syndrome, fibronectinemic type skos:exactMatch UMLS:C1857038 semapv:UnspecifiedMatching MONDO:0009158 Ehlers-Danlos syndrome, fibronectinemic type skos:exactMatch mesh:C565600 semapv:UnspecifiedMatching MONDO:0009159 Ehlers-Danlos syndrome, cardiac valvular type skos:exactMatch DOID:0080730 Ehlers-Danlos syndrome cardiac valvular type semapv:UnspecifiedMatching MONDO:0009159 Ehlers-Danlos syndrome, cardiac valvular type skos:exactMatch MEDGEN:929458 semapv:UnspecifiedMatching MONDO:0009159 Ehlers-Danlos syndrome, cardiac valvular type skos:exactMatch OMIM:225320 ehlers-danlos syndrome, cardiac valvular type semapv:UnspecifiedMatching MONDO:0009159 Ehlers-Danlos syndrome, cardiac valvular type skos:exactMatch Orphanet:230851 Cardiac-valvular Ehlers-Danlos syndrome semapv:UnspecifiedMatching MONDO:0009159 Ehlers-Danlos syndrome, cardiac valvular type skos:exactMatch SCTID:720858001 semapv:UnspecifiedMatching MONDO:0009159 Ehlers-Danlos syndrome, cardiac valvular type skos:exactMatch UMLS:C4303789 semapv:UnspecifiedMatching MONDO:0009159 Ehlers-Danlos syndrome, cardiac valvular type skos:exactMatch icd11.foundation:531375176 Ehlers-Danlos syndrome, cardiac valvular type semapv:UnspecifiedMatching MONDO:0009159 Ehlers-Danlos syndrome, cardiac valvular type skos:exactMatch mesh:C536200 semapv:UnspecifiedMatching MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type skos:exactMatch DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type semapv:UnspecifiedMatching MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type skos:exactMatch MEDGEN:397792 semapv:UnspecifiedMatching MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type skos:exactMatch OMIM:225410 ehlers-danlos syndrome, dermatosparaxis type semapv:UnspecifiedMatching MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type skos:exactMatch Orphanet:1901 Dermatosparaxis Ehlers-Danlos syndrome semapv:UnspecifiedMatching MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type skos:exactMatch SCTID:55711009 semapv:UnspecifiedMatching MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type skos:exactMatch UMLS:C2700425 semapv:UnspecifiedMatching MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type skos:exactMatch icd11.foundation:445808781 Ehlers-Danlos syndrome, dermatosparaxis type semapv:UnspecifiedMatching MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type skos:exactMatch mesh:C567527 semapv:UnspecifiedMatching MONDO:0009162 Ellis-van Creveld syndrome skos:exactMatch DOID:12714 Ellis-Van Creveld syndrome semapv:UnspecifiedMatching MONDO:0009162 Ellis-van Creveld syndrome skos:exactMatch ICD10CM:Q77.6 Chondroectodermal dysplasia semapv:UnspecifiedMatching MONDO:0009162 Ellis-van Creveld syndrome skos:exactMatch MEDGEN:8584 semapv:UnspecifiedMatching MONDO:0009162 Ellis-van Creveld syndrome skos:exactMatch NCIT:C84684 Ellis-Van Creveld Syndrome semapv:UnspecifiedMatching MONDO:0009162 Ellis-van Creveld syndrome skos:exactMatch OMIM:225500 ellis-van creveld syndrome semapv:UnspecifiedMatching MONDO:0009162 Ellis-van Creveld syndrome skos:exactMatch Orphanet:289 Ellis Van Creveld syndrome semapv:UnspecifiedMatching MONDO:0009162 Ellis-van Creveld syndrome skos:exactMatch SCTID:62501005 semapv:UnspecifiedMatching MONDO:0009162 Ellis-van Creveld syndrome skos:exactMatch UMLS:C0013903 semapv:UnspecifiedMatching MONDO:0009162 Ellis-van Creveld syndrome skos:exactMatch mesh:D004613 semapv:UnspecifiedMatching MONDO:0009163 encephalomalacia, multilocular skos:exactMatch MEDGEN:341670 semapv:UnspecifiedMatching MONDO:0009163 encephalomalacia, multilocular skos:exactMatch OMIM:225700 encephalomalacia, multilocular semapv:UnspecifiedMatching MONDO:0009163 encephalomalacia, multilocular skos:exactMatch UMLS:C1856991 semapv:UnspecifiedMatching MONDO:0009163 encephalomalacia, multilocular skos:exactMatch mesh:C565597 semapv:UnspecifiedMatching MONDO:0009164 encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy, and cataracts skos:exactMatch MEDGEN:341669 semapv:UnspecifiedMatching MONDO:0009164 encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy, and cataracts skos:exactMatch OMIM:225740 encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy, and cataracts semapv:UnspecifiedMatching MONDO:0009164 encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy, and cataracts skos:exactMatch UMLS:C1856990 semapv:UnspecifiedMatching MONDO:0009164 encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy, and cataracts skos:exactMatch mesh:C565596 semapv:UnspecifiedMatching MONDO:0009165 Aicardi-Goutieres syndrome 1 skos:exactMatch MEDGEN:162912 semapv:UnspecifiedMatching MONDO:0009165 Aicardi-Goutieres syndrome 1 skos:exactMatch NCIT:C165501 Aicardi-Goutieres Syndrome 1 semapv:UnspecifiedMatching MONDO:0009165 Aicardi-Goutieres syndrome 1 skos:exactMatch OMIM:225750 aicardi-goutieres syndrome 1 semapv:UnspecifiedMatching MONDO:0009165 Aicardi-Goutieres syndrome 1 skos:exactMatch UMLS:C0796126 semapv:UnspecifiedMatching MONDO:0009166 pontocerebellar hypoplasia type 4 skos:exactMatch DOID:0060273 pontocerebellar hypoplasia type 4 semapv:UnspecifiedMatching MONDO:0009166 pontocerebellar hypoplasia type 4 skos:exactMatch MEDGEN:384027 semapv:UnspecifiedMatching MONDO:0009166 pontocerebellar hypoplasia type 4 skos:exactMatch OMIM:225753 pontocerebellar hypoplasia, type 4 semapv:UnspecifiedMatching MONDO:0009166 pontocerebellar hypoplasia type 4 skos:exactMatch Orphanet:166063 Pontocerebellar hypoplasia type 4 semapv:UnspecifiedMatching MONDO:0009166 pontocerebellar hypoplasia type 4 skos:exactMatch SCTID:718608006 semapv:UnspecifiedMatching MONDO:0009166 pontocerebellar hypoplasia type 4 skos:exactMatch UMLS:C1856974 semapv:UnspecifiedMatching MONDO:0009166 pontocerebellar hypoplasia type 4 skos:exactMatch icd11.foundation:447667859 Pontocerebellar hypoplasia type 4 semapv:UnspecifiedMatching MONDO:0009166 pontocerebellar hypoplasia type 4 skos:exactMatch mesh:C536716 semapv:UnspecifiedMatching MONDO:0009167 Bonnemann-Meinecke-Reich syndrome skos:exactMatch MEDGEN:346482 semapv:UnspecifiedMatching MONDO:0009167 Bonnemann-Meinecke-Reich syndrome skos:exactMatch OMIM:225755 encephalopathy with intracranial calcification, growth hormone deficiency, microcephaly, and retinal degeneration semapv:UnspecifiedMatching MONDO:0009167 Bonnemann-Meinecke-Reich syndrome skos:exactMatch Orphanet:1261 Bonnemann-Meinecke-Reich syndrome semapv:UnspecifiedMatching MONDO:0009167 Bonnemann-Meinecke-Reich syndrome skos:exactMatch SCTID:733049004 semapv:UnspecifiedMatching MONDO:0009167 Bonnemann-Meinecke-Reich syndrome skos:exactMatch UMLS:C1856973 semapv:UnspecifiedMatching MONDO:0009167 Bonnemann-Meinecke-Reich syndrome skos:exactMatch mesh:C565594 semapv:UnspecifiedMatching MONDO:0009168 Fowler syndrome skos:exactMatch DOID:0111666 proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome semapv:UnspecifiedMatching MONDO:0009168 Fowler syndrome skos:exactMatch MEDGEN:384026 semapv:UnspecifiedMatching MONDO:0009168 Fowler syndrome skos:exactMatch OMIM:225790 proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome semapv:UnspecifiedMatching MONDO:0009168 Fowler syndrome skos:exactMatch Orphanet:221126 Fowler vasculopathy semapv:UnspecifiedMatching MONDO:0009168 Fowler syndrome skos:exactMatch SCTID:700242002 semapv:UnspecifiedMatching MONDO:0009168 Fowler syndrome skos:exactMatch UMLS:C1856972 semapv:UnspecifiedMatching MONDO:0009168 Fowler syndrome skos:exactMatch mesh:C565593 semapv:UnspecifiedMatching MONDO:0009169 endocardial fibroelastosis skos:exactMatch DOID:12929 endocardial fibroelastosis semapv:UnspecifiedMatching MONDO:0009169 endocardial fibroelastosis skos:exactMatch EFO:0007251 semapv:UnspecifiedMatching MONDO:0009169 endocardial fibroelastosis skos:exactMatch ICD10CM:I42.4 Endocardial fibroelastosis semapv:UnspecifiedMatching MONDO:0009169 endocardial fibroelastosis skos:exactMatch MEDGEN:4041 semapv:UnspecifiedMatching MONDO:0009169 endocardial fibroelastosis skos:exactMatch NCIT:C98922 Endocardial Fibroelastosis semapv:UnspecifiedMatching MONDO:0009169 endocardial fibroelastosis skos:exactMatch OMIM:226000 endocardial fibroelastosis semapv:UnspecifiedMatching MONDO:0009169 endocardial fibroelastosis skos:exactMatch Orphanet:2022 Endocardial fibroelastosis semapv:UnspecifiedMatching MONDO:0009169 endocardial fibroelastosis skos:exactMatch SCTID:65457005 semapv:UnspecifiedMatching MONDO:0009169 endocardial fibroelastosis skos:exactMatch UMLS:C0014117 semapv:UnspecifiedMatching MONDO:0009169 endocardial fibroelastosis skos:exactMatch icd11.foundation:1971033419 Endocardial fibroelastosis semapv:UnspecifiedMatching MONDO:0009169 endocardial fibroelastosis skos:exactMatch mesh:D004695 semapv:UnspecifiedMatching MONDO:0009170 endocardial fibroelastosis and coarctation of abdominal aorta skos:exactMatch MEDGEN:341665 semapv:UnspecifiedMatching MONDO:0009170 endocardial fibroelastosis and coarctation of abdominal aorta skos:exactMatch OMIM:226100 endocardial fibroelastosis and coarctation of abdominal aorta semapv:UnspecifiedMatching MONDO:0009170 endocardial fibroelastosis and coarctation of abdominal aorta skos:exactMatch UMLS:C1856971 semapv:UnspecifiedMatching MONDO:0009170 endocardial fibroelastosis and coarctation of abdominal aorta skos:exactMatch mesh:C565592 semapv:UnspecifiedMatching MONDO:0009171 endothelial dystrophy, congenital hereditary, with nail hypoplasia skos:exactMatch MEDGEN:341664 semapv:UnspecifiedMatching MONDO:0009171 endothelial dystrophy, congenital hereditary, with nail hypoplasia skos:exactMatch OMIM:226110 endothelial dystrophy, congenital hereditary, with nail hypoplasia semapv:UnspecifiedMatching MONDO:0009171 endothelial dystrophy, congenital hereditary, with nail hypoplasia skos:exactMatch UMLS:C1856970 semapv:UnspecifiedMatching MONDO:0009171 endothelial dystrophy, congenital hereditary, with nail hypoplasia skos:exactMatch mesh:C565591 semapv:UnspecifiedMatching MONDO:0009172 enterocolitis skos:exactMatch EFO:1001481 semapv:UnspecifiedMatching MONDO:0009172 enterocolitis skos:exactMatch MEDGEN:4966 semapv:UnspecifiedMatching MONDO:0009172 enterocolitis skos:exactMatch NCIT:C79573 Enterocolitis semapv:UnspecifiedMatching MONDO:0009172 enterocolitis skos:exactMatch OMIM:226150 enterocolitis semapv:UnspecifiedMatching MONDO:0009172 enterocolitis skos:exactMatch SCTID:43752006 semapv:UnspecifiedMatching MONDO:0009172 enterocolitis skos:exactMatch UMLS:C0014356 semapv:UnspecifiedMatching MONDO:0009172 enterocolitis skos:exactMatch mesh:D004760 semapv:UnspecifiedMatching MONDO:0009173 congenital enteropathy due to enteropeptidase deficiency skos:exactMatch DOID:0111667 enterokinase deficiency semapv:UnspecifiedMatching MONDO:0009173 congenital enteropathy due to enteropeptidase deficiency skos:exactMatch MEDGEN:82802 semapv:UnspecifiedMatching MONDO:0009173 congenital enteropathy due to enteropeptidase deficiency skos:exactMatch OMIM:226200 enterokinase deficiency semapv:UnspecifiedMatching MONDO:0009173 congenital enteropathy due to enteropeptidase deficiency skos:exactMatch Orphanet:168601 Congenital enteropathy due to enteropeptidase deficiency semapv:UnspecifiedMatching MONDO:0009173 congenital enteropathy due to enteropeptidase deficiency skos:exactMatch SCTID:190952002 semapv:UnspecifiedMatching MONDO:0009173 congenital enteropathy due to enteropeptidase deficiency skos:exactMatch UMLS:C0268416 semapv:UnspecifiedMatching MONDO:0009173 congenital enteropathy due to enteropeptidase deficiency skos:exactMatch mesh:C562649 semapv:UnspecifiedMatching MONDO:0009174 protein-losing enteropathy skos:exactMatch DOID:10611 protein-losing enteropathy semapv:UnspecifiedMatching MONDO:0009174 protein-losing enteropathy skos:exactMatch MEDGEN:1622548 semapv:UnspecifiedMatching MONDO:0009174 protein-losing enteropathy skos:exactMatch OMIM:226300 complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy semapv:UnspecifiedMatching MONDO:0009174 protein-losing enteropathy skos:exactMatch Orphanet:566175 Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome semapv:UnspecifiedMatching MONDO:0009174 protein-losing enteropathy skos:exactMatch SCTID:22542007 semapv:UnspecifiedMatching MONDO:0009174 protein-losing enteropathy skos:exactMatch UMLS:C4538570 semapv:UnspecifiedMatching MONDO:0009174 protein-losing enteropathy skos:exactMatch icd11.foundation:1821383469 Protein-losing enteropathy semapv:UnspecifiedMatching MONDO:0009174 protein-losing enteropathy skos:exactMatch mesh:D011504 semapv:UnspecifiedMatching MONDO:0009175 eosinophilic fasciitis skos:exactMatch MEDGEN:82673 semapv:UnspecifiedMatching MONDO:0009175 eosinophilic fasciitis skos:exactMatch NCIT:C112116 Eosinophilic Fasciitis semapv:UnspecifiedMatching MONDO:0009175 eosinophilic fasciitis skos:exactMatch OMIM:226350 eosinophilic fasciitis semapv:UnspecifiedMatching MONDO:0009175 eosinophilic fasciitis skos:exactMatch Orphanet:3165 Eosinophilic fasciitis semapv:UnspecifiedMatching MONDO:0009175 eosinophilic fasciitis skos:exactMatch SCTID:24129002 semapv:UnspecifiedMatching MONDO:0009175 eosinophilic fasciitis skos:exactMatch UMLS:C0264005 semapv:UnspecifiedMatching MONDO:0009175 eosinophilic fasciitis skos:exactMatch icd11.foundation:1977389237 Diffuse eosinophilic fasciitis semapv:UnspecifiedMatching MONDO:0009175 eosinophilic fasciitis skos:exactMatch mesh:C562487 semapv:UnspecifiedMatching MONDO:0009176 epidermodysplasia verruciformis skos:exactMatch DOID:13777 epidermodysplasia verruciformis semapv:UnspecifiedMatching MONDO:0009176 epidermodysplasia verruciformis skos:exactMatch MEDGEN:41831 semapv:UnspecifiedMatching MONDO:0009176 epidermodysplasia verruciformis skos:exactMatch NCIT:C126877 Epidermodysplasia Verruciformis semapv:UnspecifiedMatching MONDO:0009176 epidermodysplasia verruciformis skos:exactMatch Orphanet:302 Inherited epidermodysplasia verruciformis semapv:UnspecifiedMatching MONDO:0009176 epidermodysplasia verruciformis skos:exactMatch SCTID:19138001 semapv:UnspecifiedMatching MONDO:0009176 epidermodysplasia verruciformis skos:exactMatch UMLS:C0014522 semapv:UnspecifiedMatching MONDO:0009176 epidermodysplasia verruciformis skos:exactMatch icd11.foundation:1191479808 Epidermodysplasia verruciformis semapv:UnspecifiedMatching MONDO:0009176 epidermodysplasia verruciformis skos:exactMatch mesh:D004819 semapv:UnspecifiedMatching MONDO:0009177 late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome skos:exactMatch MEDGEN:341663 semapv:UnspecifiedMatching MONDO:0009177 late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome skos:exactMatch OMIM:226440 epidermolysis bullosa, late-onset localized junctional, with impaired intellectual development semapv:UnspecifiedMatching MONDO:0009177 late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome skos:exactMatch Orphanet:231556 Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0009177 late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome skos:exactMatch UMLS:C1856969 semapv:UnspecifiedMatching MONDO:0009177 late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome skos:exactMatch mesh:C535492 semapv:UnspecifiedMatching MONDO:0009178 epidermolysis bullosa dystrophica Neurotrophica skos:exactMatch MEDGEN:78666 semapv:UnspecifiedMatching MONDO:0009178 epidermolysis bullosa dystrophica Neurotrophica skos:exactMatch OMIM:226500 epidermolysis bullosa dystrophica neurotrophica semapv:UnspecifiedMatching MONDO:0009178 epidermolysis bullosa dystrophica Neurotrophica skos:exactMatch SCTID:254176007 semapv:UnspecifiedMatching MONDO:0009178 epidermolysis bullosa dystrophica Neurotrophica skos:exactMatch UMLS:C0268368 semapv:UnspecifiedMatching MONDO:0009178 epidermolysis bullosa dystrophica Neurotrophica skos:exactMatch mesh:C562637 semapv:UnspecifiedMatching MONDO:0009179 recessive dystrophic epidermolysis bullosa skos:exactMatch DOID:0060642 recessive dystrophic epidermolysis bullosa semapv:UnspecifiedMatching MONDO:0009179 recessive dystrophic epidermolysis bullosa skos:exactMatch MEDGEN:36311 semapv:UnspecifiedMatching MONDO:0009179 recessive dystrophic epidermolysis bullosa skos:exactMatch OMIM:226600 epidermolysis bullosa dystrophica, autosomal recessive semapv:UnspecifiedMatching MONDO:0009179 recessive dystrophic epidermolysis bullosa skos:exactMatch Orphanet:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form semapv:UnspecifiedMatching MONDO:0009179 recessive dystrophic epidermolysis bullosa skos:exactMatch SCTID:48528004 semapv:UnspecifiedMatching MONDO:0009179 recessive dystrophic epidermolysis bullosa skos:exactMatch UMLS:C0079474 semapv:UnspecifiedMatching MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type skos:exactMatch MEDGEN:82798 semapv:UnspecifiedMatching MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type skos:exactMatch OMIM:226650 epidermolysis bullosa, junctional 1a, intermediate semapv:UnspecifiedMatching MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type skos:exactMatch SCTID:33662006 semapv:UnspecifiedMatching MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type skos:exactMatch UMLS:C0268374 semapv:UnspecifiedMatching MONDO:0009181 epidermolysis bullosa simplex 5B, with muscular dystrophy skos:exactMatch DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy semapv:UnspecifiedMatching MONDO:0009181 epidermolysis bullosa simplex 5B, with muscular dystrophy skos:exactMatch MEDGEN:418981 semapv:UnspecifiedMatching MONDO:0009181 epidermolysis bullosa simplex 5B, with muscular dystrophy skos:exactMatch OMIM:226670 epidermolysis bullosa simplex 5b, with muscular dystrophy semapv:UnspecifiedMatching MONDO:0009181 epidermolysis bullosa simplex 5B, with muscular dystrophy skos:exactMatch Orphanet:257 Epidermolysis bullosa simplex with muscular dystrophy semapv:UnspecifiedMatching MONDO:0009181 epidermolysis bullosa simplex 5B, with muscular dystrophy skos:exactMatch SCTID:723308003 semapv:UnspecifiedMatching MONDO:0009181 epidermolysis bullosa simplex 5B, with muscular dystrophy skos:exactMatch UMLS:C2931072 semapv:UnspecifiedMatching MONDO:0009181 epidermolysis bullosa simplex 5B, with muscular dystrophy skos:exactMatch mesh:C535955 semapv:UnspecifiedMatching MONDO:0009182 junctional epidermolysis bullosa Herlitz type skos:exactMatch DOID:0060737 junctional epidermolysis bullosa Herlitz type semapv:UnspecifiedMatching MONDO:0009182 junctional epidermolysis bullosa Herlitz type skos:exactMatch ICD10CM:Q81.1 Epidermolysis bullosa letalis semapv:UnspecifiedMatching MONDO:0009182 junctional epidermolysis bullosa Herlitz type skos:exactMatch MEDGEN:36328 semapv:UnspecifiedMatching MONDO:0009182 junctional epidermolysis bullosa Herlitz type skos:exactMatch OMIM:226700 epidermolysis bullosa, junctional 1b, severe semapv:UnspecifiedMatching MONDO:0009182 junctional epidermolysis bullosa Herlitz type skos:exactMatch Orphanet:79404 Severe generalized junctional epidermolysis bullosa semapv:UnspecifiedMatching MONDO:0009182 junctional epidermolysis bullosa Herlitz type skos:exactMatch SCTID:400140006 semapv:UnspecifiedMatching MONDO:0009182 junctional epidermolysis bullosa Herlitz type skos:exactMatch UMLS:C0079683 semapv:UnspecifiedMatching MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia skos:exactMatch DOID:0060733 junctional epidermolysis bullosa with pyloric atresia semapv:UnspecifiedMatching MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia skos:exactMatch MEDGEN:1810975 semapv:UnspecifiedMatching MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia skos:exactMatch OMIM:226730 epidermolysis bullosa, junctional 5b, with pyloric atresia semapv:UnspecifiedMatching MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia skos:exactMatch Orphanet:79403 Junctional epidermolysis bullosa with pyloric atresia semapv:UnspecifiedMatching MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia skos:exactMatch UMLS:C5676875 semapv:UnspecifiedMatching MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia skos:exactMatch icd11.foundation:1877890811 Junctional epidermolysis bullosa with pyloric atresia semapv:UnspecifiedMatching MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia skos:exactMatch mesh:C535377 semapv:UnspecifiedMatching MONDO:0009184 epidermolysis bullosa with diaphragmatic hernia skos:exactMatch MEDGEN:346473 semapv:UnspecifiedMatching MONDO:0009184 epidermolysis bullosa with diaphragmatic hernia skos:exactMatch OMIM:226735 epidermolysis bullosa with diaphragmatic hernia semapv:UnspecifiedMatching MONDO:0009184 epidermolysis bullosa with diaphragmatic hernia skos:exactMatch UMLS:C1856933 semapv:UnspecifiedMatching MONDO:0009184 epidermolysis bullosa with diaphragmatic hernia skos:exactMatch mesh:C565588 semapv:UnspecifiedMatching MONDO:0009185 amelocerebrohypohidrotic syndrome skos:exactMatch DOID:0111668 Kohlschutter-Tonz syndrome semapv:UnspecifiedMatching MONDO:0009185 amelocerebrohypohidrotic syndrome skos:exactMatch MEDGEN:98036 semapv:UnspecifiedMatching MONDO:0009185 amelocerebrohypohidrotic syndrome skos:exactMatch OMIM:226750 kohlschutter-tonz syndrome semapv:UnspecifiedMatching MONDO:0009185 amelocerebrohypohidrotic syndrome skos:exactMatch Orphanet:1946 Amelocerebrohypohidrotic syndrome semapv:UnspecifiedMatching MONDO:0009185 amelocerebrohypohidrotic syndrome skos:exactMatch SCTID:109478007 semapv:UnspecifiedMatching MONDO:0009185 amelocerebrohypohidrotic syndrome skos:exactMatch UMLS:C0406740 semapv:UnspecifiedMatching MONDO:0009185 amelocerebrohypohidrotic syndrome skos:exactMatch mesh:C537213 semapv:UnspecifiedMatching MONDO:0009186 epilepsy, photogenic, with spastic diplegia and intellectual disability skos:exactMatch MEDGEN:347333 semapv:UnspecifiedMatching MONDO:0009186 epilepsy, photogenic, with spastic diplegia and intellectual disability skos:exactMatch OMIM:226800 epilepsy, photogenic, with spastic diplegia and impaired intellectual development semapv:UnspecifiedMatching MONDO:0009186 epilepsy, photogenic, with spastic diplegia and intellectual disability skos:exactMatch UMLS:C1856931 semapv:UnspecifiedMatching MONDO:0009186 epilepsy, photogenic, with spastic diplegia and intellectual disability skos:exactMatch mesh:C565587 semapv:UnspecifiedMatching MONDO:0009187 celiac disease-epilepsy-cerebral calcification syndrome skos:exactMatch MEDGEN:341654 semapv:UnspecifiedMatching MONDO:0009187 celiac disease-epilepsy-cerebral calcification syndrome skos:exactMatch OMIM:226810 epilepsy with bilateral occipital calcifications semapv:UnspecifiedMatching MONDO:0009187 celiac disease-epilepsy-cerebral calcification syndrome skos:exactMatch Orphanet:1459 Celiac disease-epilepsy-cerebral calcification syndrome semapv:UnspecifiedMatching MONDO:0009187 celiac disease-epilepsy-cerebral calcification syndrome skos:exactMatch UMLS:C1856930 semapv:UnspecifiedMatching MONDO:0009187 celiac disease-epilepsy-cerebral calcification syndrome skos:exactMatch mesh:C535496 semapv:UnspecifiedMatching MONDO:0009188 epilepsy-telangiectasia syndrome skos:exactMatch MEDGEN:384017 semapv:UnspecifiedMatching MONDO:0009188 epilepsy-telangiectasia syndrome skos:exactMatch OMIM:226850 epilepsy-telangiectasia semapv:UnspecifiedMatching MONDO:0009188 epilepsy-telangiectasia syndrome skos:exactMatch Orphanet:1951 Epilepsy-telangiectasia syndrome semapv:UnspecifiedMatching MONDO:0009188 epilepsy-telangiectasia syndrome skos:exactMatch UMLS:C1856929 semapv:UnspecifiedMatching MONDO:0009188 epilepsy-telangiectasia syndrome skos:exactMatch mesh:C535497 semapv:UnspecifiedMatching MONDO:0009189 multiple epiphyseal dysplasia type 4 skos:exactMatch DOID:0070300 multiple epiphyseal dysplasia 4 semapv:UnspecifiedMatching MONDO:0009189 multiple epiphyseal dysplasia type 4 skos:exactMatch MEDGEN:376164 semapv:UnspecifiedMatching MONDO:0009189 multiple epiphyseal dysplasia type 4 skos:exactMatch OMIM:226900 epiphyseal dysplasia, multiple, 4 semapv:UnspecifiedMatching MONDO:0009189 multiple epiphyseal dysplasia type 4 skos:exactMatch Orphanet:93307 Multiple epiphyseal dysplasia type 4 semapv:UnspecifiedMatching MONDO:0009189 multiple epiphyseal dysplasia type 4 skos:exactMatch SCTID:715672007 semapv:UnspecifiedMatching MONDO:0009189 multiple epiphyseal dysplasia type 4 skos:exactMatch UMLS:C1847593 semapv:UnspecifiedMatching MONDO:0009189 multiple epiphyseal dysplasia type 4 skos:exactMatch icd11.foundation:1927114777 Multiple epiphyseal dysplasia type 4 semapv:UnspecifiedMatching MONDO:0009189 multiple epiphyseal dysplasia type 4 skos:exactMatch mesh:C535504 semapv:UnspecifiedMatching MONDO:0009190 epiphyseal dysplasia of femoral head, myopia, and deafness skos:exactMatch MEDGEN:346470 semapv:UnspecifiedMatching MONDO:0009190 epiphyseal dysplasia of femoral head, myopia, and deafness skos:exactMatch OMIM:226950 epiphyseal dysplasia of femoral head, myopia, and deafness semapv:UnspecifiedMatching MONDO:0009190 epiphyseal dysplasia of femoral head, myopia, and deafness skos:exactMatch UMLS:C1856918 semapv:UnspecifiedMatching MONDO:0009190 epiphyseal dysplasia of femoral head, myopia, and deafness skos:exactMatch mesh:C565585 semapv:UnspecifiedMatching MONDO:0009191 Lowry-Wood syndrome skos:exactMatch MEDGEN:162899 semapv:UnspecifiedMatching MONDO:0009191 Lowry-Wood syndrome skos:exactMatch OMIM:226960 lowry-wood syndrome semapv:UnspecifiedMatching MONDO:0009191 Lowry-Wood syndrome skos:exactMatch Orphanet:1824 Lowry-Wood syndrome semapv:UnspecifiedMatching MONDO:0009191 Lowry-Wood syndrome skos:exactMatch SCTID:721975004 semapv:UnspecifiedMatching MONDO:0009191 Lowry-Wood syndrome skos:exactMatch UMLS:C0796021 semapv:UnspecifiedMatching MONDO:0009191 Lowry-Wood syndrome skos:exactMatch icd11.foundation:1713071905 Lowry-Wood syndrome semapv:UnspecifiedMatching MONDO:0009191 Lowry-Wood syndrome skos:exactMatch mesh:C537038 semapv:UnspecifiedMatching MONDO:0009192 Wolcott-Rallison syndrome skos:exactMatch DOID:0090060 Wolcott-Rallison syndrome semapv:UnspecifiedMatching MONDO:0009192 Wolcott-Rallison syndrome skos:exactMatch MEDGEN:140926 semapv:UnspecifiedMatching MONDO:0009192 Wolcott-Rallison syndrome skos:exactMatch NCIT:C131007 Wolcott-Rallison Syndrome semapv:UnspecifiedMatching MONDO:0009192 Wolcott-Rallison syndrome skos:exactMatch OMIM:226980 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus semapv:UnspecifiedMatching MONDO:0009192 Wolcott-Rallison syndrome skos:exactMatch Orphanet:1667 Wolcott-Rallison syndrome semapv:UnspecifiedMatching MONDO:0009192 Wolcott-Rallison syndrome skos:exactMatch SCTID:254066006 semapv:UnspecifiedMatching MONDO:0009192 Wolcott-Rallison syndrome skos:exactMatch UMLS:C0432217 semapv:UnspecifiedMatching MONDO:0009192 Wolcott-Rallison syndrome skos:exactMatch icd11.foundation:2096915129 Wolcott-Rallison syndrome semapv:UnspecifiedMatching MONDO:0009192 Wolcott-Rallison syndrome skos:exactMatch mesh:C536739 semapv:UnspecifiedMatching MONDO:0009193 epithelial squamous dysplasia, keratinizing desquamative, of urinary tract skos:exactMatch MEDGEN:384010 semapv:UnspecifiedMatching MONDO:0009193 epithelial squamous dysplasia, keratinizing desquamative, of urinary tract skos:exactMatch OMIM:226985 epithelial squamous dysplasia, keratinizing desquamative, of urinary tract semapv:UnspecifiedMatching MONDO:0009193 epithelial squamous dysplasia, keratinizing desquamative, of urinary tract skos:exactMatch UMLS:C1856902 semapv:UnspecifiedMatching MONDO:0009193 epithelial squamous dysplasia, keratinizing desquamative, of urinary tract skos:exactMatch mesh:C565584 semapv:UnspecifiedMatching MONDO:0009194 immunodeficiency 32B skos:exactMatch DOID:0111985 immunodeficiency 32B semapv:UnspecifiedMatching MONDO:0009194 immunodeficiency 32B skos:exactMatch MEDGEN:1668246 semapv:UnspecifiedMatching MONDO:0009194 immunodeficiency 32B skos:exactMatch OMIM:226990 immunodeficiency 32b semapv:UnspecifiedMatching MONDO:0009194 immunodeficiency 32B skos:exactMatch Orphanet:2566 Chronic Epstein-Barr virus infection syndrome semapv:UnspecifiedMatching MONDO:0009194 immunodeficiency 32B skos:exactMatch UMLS:C4751209 semapv:UnspecifiedMatching MONDO:0009195 erythema of acral regions skos:exactMatch MEDGEN:384009 semapv:UnspecifiedMatching MONDO:0009195 erythema of acral regions skos:exactMatch OMIM:227000 erythema of acral regions semapv:UnspecifiedMatching MONDO:0009195 erythema of acral regions skos:exactMatch UMLS:C1856900 semapv:UnspecifiedMatching MONDO:0009196 ermine phenotype skos:exactMatch MEDGEN:346466 semapv:UnspecifiedMatching MONDO:0009196 ermine phenotype skos:exactMatch OMIM:227010 ermine phenotype semapv:UnspecifiedMatching MONDO:0009196 ermine phenotype skos:exactMatch Orphanet:999 Ermine phenotype semapv:UnspecifiedMatching MONDO:0009196 ermine phenotype skos:exactMatch SCTID:10170007 semapv:UnspecifiedMatching MONDO:0009196 ermine phenotype skos:exactMatch UMLS:C1856899 semapv:UnspecifiedMatching MONDO:0009196 ermine phenotype skos:exactMatch icd11.foundation:2048725507 Ermine phenotype semapv:UnspecifiedMatching MONDO:0009196 ermine phenotype skos:exactMatch mesh:C535508 semapv:UnspecifiedMatching MONDO:0009196 ermine phenotype skos:exactMatch mesh:C562663 semapv:UnspecifiedMatching MONDO:0009197 transient erythroblastopenia of childhood skos:exactMatch MEDGEN:68670 semapv:UnspecifiedMatching MONDO:0009197 transient erythroblastopenia of childhood skos:exactMatch NCIT:C131683 Transient Erythroblastopenia of Childhood semapv:UnspecifiedMatching MONDO:0009197 transient erythroblastopenia of childhood skos:exactMatch OMIM:227050 transient erythroblastopenia of childhood semapv:UnspecifiedMatching MONDO:0009197 transient erythroblastopenia of childhood skos:exactMatch Orphanet:98871 Transient erythroblastopenia of childhood semapv:UnspecifiedMatching MONDO:0009197 transient erythroblastopenia of childhood skos:exactMatch SCTID:191255003 semapv:UnspecifiedMatching MONDO:0009197 transient erythroblastopenia of childhood skos:exactMatch UMLS:C0238478 semapv:UnspecifiedMatching MONDO:0009197 transient erythroblastopenia of childhood skos:exactMatch mesh:C536980 semapv:UnspecifiedMatching MONDO:0009198 congenital lethal erythroderma skos:exactMatch MEDGEN:384008 semapv:UnspecifiedMatching MONDO:0009198 congenital lethal erythroderma skos:exactMatch OMIM:227090 erythroderma, lethal congenital semapv:UnspecifiedMatching MONDO:0009198 congenital lethal erythroderma skos:exactMatch Orphanet:1954 Congenital lethal erythroderma semapv:UnspecifiedMatching MONDO:0009198 congenital lethal erythroderma skos:exactMatch SCTID:722391005 semapv:UnspecifiedMatching MONDO:0009198 congenital lethal erythroderma skos:exactMatch UMLS:C1856898 semapv:UnspecifiedMatching MONDO:0009198 congenital lethal erythroderma skos:exactMatch mesh:C535513 semapv:UnspecifiedMatching MONDO:0009199 ethanolaminosis skos:exactMatch MEDGEN:120637 semapv:UnspecifiedMatching MONDO:0009199 ethanolaminosis skos:exactMatch OMIM:227150 ethanolaminosis semapv:UnspecifiedMatching MONDO:0009199 ethanolaminosis skos:exactMatch SCTID:64235006 semapv:UnspecifiedMatching MONDO:0009199 ethanolaminosis skos:exactMatch UMLS:C0268423 semapv:UnspecifiedMatching MONDO:0009199 ethanolaminosis skos:exactMatch mesh:C562651 semapv:UnspecifiedMatching MONDO:0009200 eyebrow duplication-syndactyly syndrome skos:exactMatch MEDGEN:347327 semapv:UnspecifiedMatching MONDO:0009200 eyebrow duplication-syndactyly syndrome skos:exactMatch OMIM:227210 eyebrows, duplication of, with stretchable skin and syndactyly semapv:UnspecifiedMatching MONDO:0009200 eyebrow duplication-syndactyly syndrome skos:exactMatch Orphanet:3172 Eyebrow duplication-syndactyly syndrome semapv:UnspecifiedMatching MONDO:0009200 eyebrow duplication-syndactyly syndrome skos:exactMatch UMLS:C1856896 semapv:UnspecifiedMatching MONDO:0009200 eyebrow duplication-syndactyly syndrome skos:exactMatch mesh:C536383 semapv:UnspecifiedMatching MONDO:0009201 facial abnormalities, kyphoscoliosis, and intellectual disability skos:exactMatch MEDGEN:347325 semapv:UnspecifiedMatching MONDO:0009201 facial abnormalities, kyphoscoliosis, and intellectual disability skos:exactMatch OMIM:227250 facial abnormalities, kyphoscoliosis, and impaired intellectual development semapv:UnspecifiedMatching MONDO:0009201 facial abnormalities, kyphoscoliosis, and intellectual disability skos:exactMatch UMLS:C1856893 semapv:UnspecifiedMatching MONDO:0009201 facial abnormalities, kyphoscoliosis, and intellectual disability skos:exactMatch mesh:C565580 semapv:UnspecifiedMatching MONDO:0009202 Thakker-Donnai syndrome skos:exactMatch MEDGEN:346465 semapv:UnspecifiedMatching MONDO:0009202 Thakker-Donnai syndrome skos:exactMatch OMIM:227255 facial dysmorphism with multiple malformations semapv:UnspecifiedMatching MONDO:0009202 Thakker-Donnai syndrome skos:exactMatch Orphanet:1780 Thakker-Donnai syndrome semapv:UnspecifiedMatching MONDO:0009202 Thakker-Donnai syndrome skos:exactMatch UMLS:C1856892 semapv:UnspecifiedMatching MONDO:0009202 Thakker-Donnai syndrome skos:exactMatch mesh:C536503 semapv:UnspecifiedMatching MONDO:0009203 focal facial dermal dysplasia type III skos:exactMatch MEDGEN:315643 semapv:UnspecifiedMatching MONDO:0009203 focal facial dermal dysplasia type III skos:exactMatch OMIM:227260 focal facial dermal dysplasia 3, setleis type semapv:UnspecifiedMatching MONDO:0009203 focal facial dermal dysplasia type III skos:exactMatch Orphanet:1807 Focal facial dermal dysplasia type III semapv:UnspecifiedMatching MONDO:0009203 focal facial dermal dysplasia type III skos:exactMatch SCTID:403771007 semapv:UnspecifiedMatching MONDO:0009203 focal facial dermal dysplasia type III skos:exactMatch UMLS:C1744559 semapv:UnspecifiedMatching MONDO:0009204 lethal faciocardiomelic dysplasia skos:exactMatch MEDGEN:384007 semapv:UnspecifiedMatching MONDO:0009204 lethal faciocardiomelic dysplasia skos:exactMatch OMIM:227270 faciocardiomelic dysplasia, lethal semapv:UnspecifiedMatching MONDO:0009204 lethal faciocardiomelic dysplasia skos:exactMatch Orphanet:1972 Lethal faciocardiomelic dysplasia semapv:UnspecifiedMatching MONDO:0009204 lethal faciocardiomelic dysplasia skos:exactMatch SCTID:719400000 semapv:UnspecifiedMatching MONDO:0009204 lethal faciocardiomelic dysplasia skos:exactMatch UMLS:C1856891 semapv:UnspecifiedMatching MONDO:0009204 lethal faciocardiomelic dysplasia skos:exactMatch mesh:C565578 semapv:UnspecifiedMatching MONDO:0009205 faciocardiorenal syndrome skos:exactMatch MEDGEN:208649 semapv:UnspecifiedMatching MONDO:0009205 faciocardiorenal syndrome skos:exactMatch OMIM:227280 faciocardiorenal syndrome semapv:UnspecifiedMatching MONDO:0009205 faciocardiorenal syndrome skos:exactMatch Orphanet:1973 Faciocardiorenal syndrome semapv:UnspecifiedMatching MONDO:0009205 faciocardiorenal syndrome skos:exactMatch SCTID:723333000 semapv:UnspecifiedMatching MONDO:0009205 faciocardiorenal syndrome skos:exactMatch UMLS:C0795936 semapv:UnspecifiedMatching MONDO:0009205 faciocardiorenal syndrome skos:exactMatch mesh:C536388 semapv:UnspecifiedMatching MONDO:0009206 factor V and factor VIII, combined deficiency of, type 1 skos:exactMatch MEDGEN:1637212 semapv:UnspecifiedMatching MONDO:0009206 factor V and factor VIII, combined deficiency of, type 1 skos:exactMatch OMIM:227300 factor 5 and factor viii, combined deficiency of, 1 semapv:UnspecifiedMatching MONDO:0009206 factor V and factor VIII, combined deficiency of, type 1 skos:exactMatch SCTID:84048006 semapv:UnspecifiedMatching MONDO:0009206 factor V and factor VIII, combined deficiency of, type 1 skos:exactMatch UMLS:C4551981 semapv:UnspecifiedMatching MONDO:0009207 factor V and factor VIII, combined deficiency of, with normal protein C and protein C inhibitor skos:exactMatch MEDGEN:346462 semapv:UnspecifiedMatching MONDO:0009207 factor V and factor VIII, combined deficiency of, with normal protein C and protein C inhibitor skos:exactMatch OMIM:227310 factor 5 and factor viii, combined deficiency of, with normal protein c and protein c inhibitor semapv:UnspecifiedMatching MONDO:0009207 factor V and factor VIII, combined deficiency of, with normal protein C and protein C inhibitor skos:exactMatch UMLS:C1856882 semapv:UnspecifiedMatching MONDO:0009208 faciothoracogenital syndrome skos:exactMatch MEDGEN:443995 semapv:UnspecifiedMatching MONDO:0009208 faciothoracogenital syndrome skos:exactMatch OMIM:227320 faciothoracogenital syndrome semapv:UnspecifiedMatching MONDO:0009208 faciothoracogenital syndrome skos:exactMatch UMLS:C2931184 semapv:UnspecifiedMatching MONDO:0009208 faciothoracogenital syndrome skos:exactMatch mesh:C536387 semapv:UnspecifiedMatching MONDO:0009209 autosomal recessive faciodigitogenital syndrome skos:exactMatch MEDGEN:341637 semapv:UnspecifiedMatching MONDO:0009209 autosomal recessive faciodigitogenital syndrome skos:exactMatch OMIM:227330 faciodigitogenital syndrome, autosomal recessive semapv:UnspecifiedMatching MONDO:0009209 autosomal recessive faciodigitogenital syndrome skos:exactMatch Orphanet:1974 Autosomal recessive faciodigitogenital syndrome semapv:UnspecifiedMatching MONDO:0009209 autosomal recessive faciodigitogenital syndrome skos:exactMatch UMLS:C1856871 semapv:UnspecifiedMatching MONDO:0009210 congenital factor V deficiency skos:exactMatch DOID:2216 factor V deficiency semapv:UnspecifiedMatching MONDO:0009210 congenital factor V deficiency skos:exactMatch MEDGEN:4633 semapv:UnspecifiedMatching MONDO:0009210 congenital factor V deficiency skos:exactMatch NCIT:C98938 Hereditary Factor V Deficiency semapv:UnspecifiedMatching MONDO:0009210 congenital factor V deficiency skos:exactMatch OMIM:227400 factor 5 deficiency semapv:UnspecifiedMatching MONDO:0009210 congenital factor V deficiency skos:exactMatch Orphanet:326 Congenital factor V deficiency semapv:UnspecifiedMatching MONDO:0009210 congenital factor V deficiency skos:exactMatch SCTID:88776002 semapv:UnspecifiedMatching MONDO:0009210 congenital factor V deficiency skos:exactMatch UMLS:C0015499 semapv:UnspecifiedMatching MONDO:0009211 congenital factor VII deficiency skos:exactMatch DOID:2215 factor VII deficiency semapv:UnspecifiedMatching MONDO:0009211 congenital factor VII deficiency skos:exactMatch MEDGEN:473015 semapv:UnspecifiedMatching MONDO:0009211 congenital factor VII deficiency skos:exactMatch NCIT:C131631 Factor VII Deficiency semapv:UnspecifiedMatching MONDO:0009211 congenital factor VII deficiency skos:exactMatch OMIM:227500 factor 7 deficiency semapv:UnspecifiedMatching MONDO:0009211 congenital factor VII deficiency skos:exactMatch Orphanet:327 Congenital factor VII deficiency semapv:UnspecifiedMatching MONDO:0009211 congenital factor VII deficiency skos:exactMatch UMLS:C0272320 semapv:UnspecifiedMatching MONDO:0009212 congenital factor X deficiency skos:exactMatch DOID:2222 factor X deficiency semapv:UnspecifiedMatching MONDO:0009212 congenital factor X deficiency skos:exactMatch MEDGEN:543976 semapv:UnspecifiedMatching MONDO:0009212 congenital factor X deficiency skos:exactMatch NCIT:C98940 Hereditary Factor X Deficiency semapv:UnspecifiedMatching MONDO:0009212 congenital factor X deficiency skos:exactMatch OMIM:227600 factor 10 deficiency semapv:UnspecifiedMatching MONDO:0009212 congenital factor X deficiency skos:exactMatch Orphanet:328 Congenital factor X deficiency semapv:UnspecifiedMatching MONDO:0009212 congenital factor X deficiency skos:exactMatch SCTID:37350004 semapv:UnspecifiedMatching MONDO:0009212 congenital factor X deficiency skos:exactMatch UMLS:C0272327 semapv:UnspecifiedMatching MONDO:0009212 congenital factor X deficiency skos:exactMatch icd11.foundation:1886781445 Hereditary factor X deficiency semapv:UnspecifiedMatching MONDO:0009213 Fanconi anemia complementation group C skos:exactMatch DOID:0111087 Fanconi anemia complementation group C semapv:UnspecifiedMatching MONDO:0009213 Fanconi anemia complementation group C skos:exactMatch MEDGEN:483324 semapv:UnspecifiedMatching MONDO:0009213 Fanconi anemia complementation group C skos:exactMatch NCIT:C125704 Fanconi Anemia, Complementation Group C semapv:UnspecifiedMatching MONDO:0009213 Fanconi anemia complementation group C skos:exactMatch OMIM:227645 fanconi anemia, complementation group c semapv:UnspecifiedMatching MONDO:0009213 Fanconi anemia complementation group C skos:exactMatch UMLS:C3468041 semapv:UnspecifiedMatching MONDO:0009214 Fanconi anemia complementation group D2 skos:exactMatch DOID:0111083 Fanconi anemia complementation group D2 semapv:UnspecifiedMatching MONDO:0009214 Fanconi anemia complementation group D2 skos:exactMatch MEDGEN:463627 semapv:UnspecifiedMatching MONDO:0009214 Fanconi anemia complementation group D2 skos:exactMatch NCIT:C125706 Fanconi Anemia, Complementation Group D2 semapv:UnspecifiedMatching MONDO:0009214 Fanconi anemia complementation group D2 skos:exactMatch OMIM:227646 fanconi anemia, complementation group d2 semapv:UnspecifiedMatching MONDO:0009214 Fanconi anemia complementation group D2 skos:exactMatch UMLS:C3160738 semapv:UnspecifiedMatching MONDO:0009215 Fanconi anemia complementation group A skos:exactMatch DOID:0111095 Fanconi anemia complementation group A semapv:UnspecifiedMatching MONDO:0009215 Fanconi anemia complementation group A skos:exactMatch MEDGEN:483333 semapv:UnspecifiedMatching MONDO:0009215 Fanconi anemia complementation group A skos:exactMatch NCIT:C125702 Fanconi Anemia, Complementation Group A semapv:UnspecifiedMatching MONDO:0009215 Fanconi anemia complementation group A skos:exactMatch OMIM:227650 fanconi anemia, complementation group a semapv:UnspecifiedMatching MONDO:0009215 Fanconi anemia complementation group A skos:exactMatch UMLS:C3469521 semapv:UnspecifiedMatching MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:exactMatch DOID:0070562 Fanconi-Bickel syndrome semapv:UnspecifiedMatching MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:exactMatch MEDGEN:501176 semapv:UnspecifiedMatching MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:exactMatch OMIM:227810 fanconi-bickel syndrome semapv:UnspecifiedMatching MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:exactMatch Orphanet:2088 Fanconi-Bickel syndrome semapv:UnspecifiedMatching MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:exactMatch SCTID:61598006 semapv:UnspecifiedMatching MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:exactMatch UMLS:C3495427 semapv:UnspecifiedMatching MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:exactMatch icd11.foundation:426701963 Glycogen storage disease due to GLUT2 deficiency semapv:UnspecifiedMatching MONDO:0009217 Fanconi-like syndrome skos:exactMatch DOID:0090066 Fanconi-like syndrome semapv:UnspecifiedMatching MONDO:0009217 Fanconi-like syndrome skos:exactMatch MEDGEN:56237 semapv:UnspecifiedMatching MONDO:0009217 Fanconi-like syndrome skos:exactMatch OMIM:227850 fanconi-like syndrome semapv:UnspecifiedMatching MONDO:0009217 Fanconi-like syndrome skos:exactMatch SCTID:236469003 semapv:UnspecifiedMatching MONDO:0009217 Fanconi-like syndrome skos:exactMatch UMLS:C0151638 semapv:UnspecifiedMatching MONDO:0009217 Fanconi-like syndrome skos:exactMatch mesh:C536855 semapv:UnspecifiedMatching MONDO:0009218 Farber lipogranulomatosis skos:exactMatch DOID:0050464 Farber lipogranulomatosis semapv:UnspecifiedMatching MONDO:0009218 Farber lipogranulomatosis skos:exactMatch MEDGEN:78654 semapv:UnspecifiedMatching MONDO:0009218 Farber lipogranulomatosis skos:exactMatch NCIT:C84710 Farber Lipogranulomatosis semapv:UnspecifiedMatching MONDO:0009218 Farber lipogranulomatosis skos:exactMatch OMIM:228000 farber lipogranulomatosis semapv:UnspecifiedMatching MONDO:0009218 Farber lipogranulomatosis skos:exactMatch Orphanet:333 Farber disease semapv:UnspecifiedMatching MONDO:0009218 Farber lipogranulomatosis skos:exactMatch SCTID:79935000 semapv:UnspecifiedMatching MONDO:0009218 Farber lipogranulomatosis skos:exactMatch UMLS:C0268255 semapv:UnspecifiedMatching MONDO:0009218 Farber lipogranulomatosis skos:exactMatch mesh:D055577 semapv:UnspecifiedMatching MONDO:0009219 fascial dystrophy, congenital skos:exactMatch MEDGEN:226997 semapv:UnspecifiedMatching MONDO:0009219 fascial dystrophy, congenital skos:exactMatch OMIM:228020 fascial dystrophy, congenital semapv:UnspecifiedMatching MONDO:0009219 fascial dystrophy, congenital skos:exactMatch SCTID:399948007 semapv:UnspecifiedMatching MONDO:0009219 fascial dystrophy, congenital skos:exactMatch UMLS:C1302740 semapv:UnspecifiedMatching MONDO:0009219 fascial dystrophy, congenital skos:exactMatch mesh:C563219 semapv:UnspecifiedMatching MONDO:0009220 visceral steatosis, congenital skos:exactMatch MEDGEN:90962 semapv:UnspecifiedMatching MONDO:0009220 visceral steatosis, congenital skos:exactMatch OMIM:228100 visceral steatosis, congenital semapv:UnspecifiedMatching MONDO:0009220 visceral steatosis, congenital skos:exactMatch SCTID:270881008 semapv:UnspecifiedMatching MONDO:0009220 visceral steatosis, congenital skos:exactMatch UMLS:C0341447 semapv:UnspecifiedMatching MONDO:0009220 visceral steatosis, congenital skos:exactMatch mesh:C536351 semapv:UnspecifiedMatching MONDO:0009221 femur-fibula-ulna complex skos:exactMatch MEDGEN:347305 semapv:UnspecifiedMatching MONDO:0009221 femur-fibula-ulna complex skos:exactMatch OMIM:228200 femur-fibula-ulna syndrome semapv:UnspecifiedMatching MONDO:0009221 femur-fibula-ulna complex skos:exactMatch Orphanet:2019 Femur-fibula-ulna complex semapv:UnspecifiedMatching MONDO:0009221 femur-fibula-ulna complex skos:exactMatch UMLS:C1856790 semapv:UnspecifiedMatching MONDO:0009221 femur-fibula-ulna complex skos:exactMatch icd11.foundation:353892894 Femur-fibula-ulna complex semapv:UnspecifiedMatching MONDO:0009221 femur-fibula-ulna complex skos:exactMatch mesh:C537918 semapv:UnspecifiedMatching MONDO:0009222 Gollop-Wolfgang complex skos:exactMatch DOID:0061175 Gollop-Wolfgang complex semapv:UnspecifiedMatching MONDO:0009222 Gollop-Wolfgang complex skos:exactMatch MEDGEN:341622 semapv:UnspecifiedMatching MONDO:0009222 Gollop-Wolfgang complex skos:exactMatch OMIM:228250 gollop-wolfgang complex semapv:UnspecifiedMatching MONDO:0009222 Gollop-Wolfgang complex skos:exactMatch Orphanet:1986 Gollop-Wolfgang complex semapv:UnspecifiedMatching MONDO:0009222 Gollop-Wolfgang complex skos:exactMatch SCTID:716006003 semapv:UnspecifiedMatching MONDO:0009222 Gollop-Wolfgang complex skos:exactMatch UMLS:C1856789 semapv:UnspecifiedMatching MONDO:0009222 Gollop-Wolfgang complex skos:exactMatch mesh:C537917 semapv:UnspecifiedMatching MONDO:0009223 hypogonadotropic hypogonadism 23 with or without anosmia skos:exactMatch DOID:0090091 hypogonadotropic hypogonadism 23 with or without anosmia semapv:UnspecifiedMatching MONDO:0009223 hypogonadotropic hypogonadism 23 with or without anosmia skos:exactMatch MEDGEN:82881 semapv:UnspecifiedMatching MONDO:0009223 hypogonadotropic hypogonadism 23 with or without anosmia skos:exactMatch OMIM:228300 hypogonadotropic hypogonadism 23 with or without anosmia semapv:UnspecifiedMatching MONDO:0009223 hypogonadotropic hypogonadism 23 with or without anosmia skos:exactMatch Orphanet:325448 Leydig cell hypoplasia due to LHB deficiency semapv:UnspecifiedMatching MONDO:0009223 hypogonadotropic hypogonadism 23 with or without anosmia skos:exactMatch SCTID:8829008 semapv:UnspecifiedMatching MONDO:0009223 hypogonadotropic hypogonadism 23 with or without anosmia skos:exactMatch UMLS:C0271582 semapv:UnspecifiedMatching MONDO:0009223 hypogonadotropic hypogonadism 23 with or without anosmia skos:exactMatch mesh:C537919 semapv:UnspecifiedMatching MONDO:0009224 fetal iodine syndrome skos:exactMatch MEDGEN:907922 semapv:UnspecifiedMatching MONDO:0009224 fetal iodine syndrome skos:exactMatch OMIM:228355 fetal iodine deficiency disorder semapv:UnspecifiedMatching MONDO:0009224 fetal iodine syndrome skos:exactMatch Orphanet:1910 Fetal iodine syndrome semapv:UnspecifiedMatching MONDO:0009224 fetal iodine syndrome skos:exactMatch SCTID:718228001 semapv:UnspecifiedMatching MONDO:0009224 fetal iodine syndrome skos:exactMatch UMLS:C4273860 semapv:UnspecifiedMatching MONDO:0009225 fever, familial lifelong persistent skos:exactMatch MEDGEN:346443 semapv:UnspecifiedMatching MONDO:0009225 fever, familial lifelong persistent skos:exactMatch OMIM:228400 fever, familial lifelong persistent semapv:UnspecifiedMatching MONDO:0009225 fever, familial lifelong persistent skos:exactMatch UMLS:C1856788 semapv:UnspecifiedMatching MONDO:0009225 fever, familial lifelong persistent skos:exactMatch mesh:C565569 semapv:UnspecifiedMatching MONDO:0009226 fibrochondrogenesis 1 skos:exactMatch DOID:0080672 fibrochondrogenesis 1 semapv:UnspecifiedMatching MONDO:0009226 fibrochondrogenesis 1 skos:exactMatch MEDGEN:479768 semapv:UnspecifiedMatching MONDO:0009226 fibrochondrogenesis 1 skos:exactMatch OMIM:228520 fibrochondrogenesis 1 semapv:UnspecifiedMatching MONDO:0009226 fibrochondrogenesis 1 skos:exactMatch UMLS:C3278138 semapv:UnspecifiedMatching MONDO:0009227 myofibromatosis, infantile, 1 skos:exactMatch DOID:0070666 infantile myofibromatosis 1 semapv:UnspecifiedMatching MONDO:0009227 myofibromatosis, infantile, 1 skos:exactMatch MEDGEN:1632352 semapv:UnspecifiedMatching MONDO:0009227 myofibromatosis, infantile, 1 skos:exactMatch NCIT:C176943 Infantile Myofibromatosis 1 semapv:UnspecifiedMatching MONDO:0009227 myofibromatosis, infantile, 1 skos:exactMatch OMIM:228550 myofibromatosis, infantile, 1 semapv:UnspecifiedMatching MONDO:0009227 myofibromatosis, infantile, 1 skos:exactMatch SCTID:254146000 semapv:UnspecifiedMatching MONDO:0009227 myofibromatosis, infantile, 1 skos:exactMatch UMLS:C4551572 semapv:UnspecifiedMatching MONDO:0009227 myofibromatosis, infantile, 1 skos:exactMatch mesh:C562978 semapv:UnspecifiedMatching MONDO:0009228 gingival fibromatosis-facial dysmorphism syndrome skos:exactMatch MEDGEN:346437 semapv:UnspecifiedMatching MONDO:0009228 gingival fibromatosis-facial dysmorphism syndrome skos:exactMatch OMIM:228560 fibromatosis, gingival, with distinctive facies semapv:UnspecifiedMatching MONDO:0009228 gingival fibromatosis-facial dysmorphism syndrome skos:exactMatch Orphanet:2025 Gingival fibromatosis-facial dysmorphism syndrome semapv:UnspecifiedMatching MONDO:0009228 gingival fibromatosis-facial dysmorphism syndrome skos:exactMatch UMLS:C1856761 semapv:UnspecifiedMatching MONDO:0009228 gingival fibromatosis-facial dysmorphism syndrome skos:exactMatch mesh:C565567 semapv:UnspecifiedMatching MONDO:0009229 hyaline fibromatosis syndrome skos:exactMatch DOID:0111669 hyaline fibromatosis syndrome semapv:UnspecifiedMatching MONDO:0009229 hyaline fibromatosis syndrome skos:exactMatch MEDGEN:1805033 semapv:UnspecifiedMatching MONDO:0009229 hyaline fibromatosis syndrome skos:exactMatch OMIM:228600 hyaline fibromatosis syndrome semapv:UnspecifiedMatching MONDO:0009229 hyaline fibromatosis syndrome skos:exactMatch Orphanet:498474 Hyaline fibromatosis syndrome semapv:UnspecifiedMatching MONDO:0009229 hyaline fibromatosis syndrome skos:exactMatch UMLS:C5574677 semapv:UnspecifiedMatching MONDO:0009230 fibrosclerosis, multifocal skos:exactMatch ICD10CM:M35.5 Multifocal fibrosclerosis semapv:UnspecifiedMatching MONDO:0009230 fibrosclerosis, multifocal skos:exactMatch MEDGEN:105414 semapv:UnspecifiedMatching MONDO:0009230 fibrosclerosis, multifocal skos:exactMatch OMIM:228800 fibrosclerosis, multifocal semapv:UnspecifiedMatching MONDO:0009230 fibrosclerosis, multifocal skos:exactMatch SCTID:111210001 semapv:UnspecifiedMatching MONDO:0009230 fibrosclerosis, multifocal skos:exactMatch UMLS:C0494949 semapv:UnspecifiedMatching MONDO:0009230 fibrosclerosis, multifocal skos:exactMatch mesh:C537375 semapv:UnspecifiedMatching MONDO:0009231 acromesomelic dysplasia 2B skos:exactMatch DOID:0050790 fibular hypoplasia and complex brachydactyly semapv:UnspecifiedMatching MONDO:0009231 acromesomelic dysplasia 2B skos:exactMatch MEDGEN:346432 semapv:UnspecifiedMatching MONDO:0009231 acromesomelic dysplasia 2B skos:exactMatch OMIM:228900 acromesomelic dysplasia 2b semapv:UnspecifiedMatching MONDO:0009231 acromesomelic dysplasia 2B skos:exactMatch Orphanet:2639 Fibular aplasia-complex brachydactyly syndrome semapv:UnspecifiedMatching MONDO:0009231 acromesomelic dysplasia 2B skos:exactMatch SCTID:715474004 semapv:UnspecifiedMatching MONDO:0009231 acromesomelic dysplasia 2B skos:exactMatch UMLS:C1856738 semapv:UnspecifiedMatching MONDO:0009231 acromesomelic dysplasia 2B skos:exactMatch mesh:C537931 semapv:UnspecifiedMatching MONDO:0009232 Fuhrmann syndrome skos:exactMatch DOID:0090067 Fuhrmann syndrome semapv:UnspecifiedMatching MONDO:0009232 Fuhrmann syndrome skos:exactMatch MEDGEN:346429 semapv:UnspecifiedMatching MONDO:0009232 Fuhrmann syndrome skos:exactMatch OMIM:228930 fibular aplasia or hypoplasia, femoral bowing, and poly-, syn-, and oligodactyly semapv:UnspecifiedMatching MONDO:0009232 Fuhrmann syndrome skos:exactMatch Orphanet:2854 Fuhrmann syndrome semapv:UnspecifiedMatching MONDO:0009232 Fuhrmann syndrome skos:exactMatch SCTID:721296004 semapv:UnspecifiedMatching MONDO:0009232 Fuhrmann syndrome skos:exactMatch UMLS:C1856728 semapv:UnspecifiedMatching MONDO:0009232 Fuhrmann syndrome skos:exactMatch mesh:C538189 semapv:UnspecifiedMatching MONDO:0009233 Fibulo-ulnar hypoplasia-renal anomalies syndrome skos:exactMatch MEDGEN:383972 semapv:UnspecifiedMatching MONDO:0009233 Fibulo-ulnar hypoplasia-renal anomalies syndrome skos:exactMatch OMIM:228940 fibuloulnar aplasia or hypoplasia with renal abnormalities semapv:UnspecifiedMatching MONDO:0009233 Fibulo-ulnar hypoplasia-renal anomalies syndrome skos:exactMatch Orphanet:2256 Fibulo-ulnar hypoplasia-renal anomalies syndrome semapv:UnspecifiedMatching MONDO:0009233 Fibulo-ulnar hypoplasia-renal anomalies syndrome skos:exactMatch SCTID:716094008 semapv:UnspecifiedMatching MONDO:0009233 Fibulo-ulnar hypoplasia-renal anomalies syndrome skos:exactMatch UMLS:C1856727 semapv:UnspecifiedMatching MONDO:0009233 Fibulo-ulnar hypoplasia-renal anomalies syndrome skos:exactMatch mesh:C537226 semapv:UnspecifiedMatching MONDO:0009234 congenital high-molecular-weight kininogen deficiency skos:exactMatch DOID:0111676 high molecular weight kininogen deficiency semapv:UnspecifiedMatching MONDO:0009234 congenital high-molecular-weight kininogen deficiency skos:exactMatch MEDGEN:75780 semapv:UnspecifiedMatching MONDO:0009234 congenital high-molecular-weight kininogen deficiency skos:exactMatch NCIT:C98946 High Molecular Weight Kininogen Deficiency semapv:UnspecifiedMatching MONDO:0009234 congenital high-molecular-weight kininogen deficiency skos:exactMatch OMIM:228960 high molecular weight kininogen deficiency semapv:UnspecifiedMatching MONDO:0009234 congenital high-molecular-weight kininogen deficiency skos:exactMatch Orphanet:483 Congenital high-molecular-weight kininogen deficiency semapv:UnspecifiedMatching MONDO:0009234 congenital high-molecular-weight kininogen deficiency skos:exactMatch SCTID:27312002 semapv:UnspecifiedMatching MONDO:0009234 congenital high-molecular-weight kininogen deficiency skos:exactMatch UMLS:C0272340 semapv:UnspecifiedMatching MONDO:0009234 congenital high-molecular-weight kininogen deficiency skos:exactMatch icd11.foundation:453135247 Congenital high-molecular-weight kininogen deficiency semapv:UnspecifiedMatching MONDO:0009234 congenital high-molecular-weight kininogen deficiency skos:exactMatch mesh:C537060 semapv:UnspecifiedMatching MONDO:0009235 familial benign flecked retina skos:exactMatch DOID:0111677 familial benign fleck retina semapv:UnspecifiedMatching MONDO:0009235 familial benign flecked retina skos:exactMatch MEDGEN:341605 semapv:UnspecifiedMatching MONDO:0009235 familial benign flecked retina skos:exactMatch OMIM:228980 fleck retina, familial benign semapv:UnspecifiedMatching MONDO:0009235 familial benign flecked retina skos:exactMatch Orphanet:363989 Familial benign flecked retina semapv:UnspecifiedMatching MONDO:0009235 familial benign flecked retina skos:exactMatch UMLS:C1856718 semapv:UnspecifiedMatching MONDO:0009235 familial benign flecked retina skos:exactMatch mesh:C565564 semapv:UnspecifiedMatching MONDO:0009236 Kandori fleck retina skos:exactMatch MEDGEN:78764 semapv:UnspecifiedMatching MONDO:0009236 Kandori fleck retina skos:exactMatch OMIM:228990 fleck retina of kandori semapv:UnspecifiedMatching MONDO:0009236 Kandori fleck retina skos:exactMatch Orphanet:99179 Kandori fleck retina semapv:UnspecifiedMatching MONDO:0009236 Kandori fleck retina skos:exactMatch SCTID:765191009 semapv:UnspecifiedMatching MONDO:0009236 Kandori fleck retina skos:exactMatch UMLS:C0271257 semapv:UnspecifiedMatching MONDO:0009236 Kandori fleck retina skos:exactMatch icd11.foundation:697904956 Kandori fleck retina semapv:UnspecifiedMatching MONDO:0009236 Kandori fleck retina skos:exactMatch mesh:C562701 semapv:UnspecifiedMatching MONDO:0009237 focal epithelial hyperplasia skos:exactMatch DOID:5362 focal epithelial hyperplasia semapv:UnspecifiedMatching MONDO:0009237 focal epithelial hyperplasia skos:exactMatch EFO:0007275 semapv:UnspecifiedMatching MONDO:0009237 focal epithelial hyperplasia skos:exactMatch MEDGEN:60066 semapv:UnspecifiedMatching MONDO:0009237 focal epithelial hyperplasia skos:exactMatch NCIT:C97083 Focal Epithelial Hyperplasia semapv:UnspecifiedMatching MONDO:0009237 focal epithelial hyperplasia skos:exactMatch OMIM:229045 focal epithelial hyperplasia, oral semapv:UnspecifiedMatching MONDO:0009237 focal epithelial hyperplasia skos:exactMatch SCTID:6121001 semapv:UnspecifiedMatching MONDO:0009237 focal epithelial hyperplasia skos:exactMatch UMLS:C0206067 semapv:UnspecifiedMatching MONDO:0009237 focal epithelial hyperplasia skos:exactMatch mesh:D017573 semapv:UnspecifiedMatching MONDO:0009238 hereditary folate malabsorption skos:exactMatch DOID:0111678 hereditary folate malabsorption semapv:UnspecifiedMatching MONDO:0009238 hereditary folate malabsorption skos:exactMatch MEDGEN:83348 semapv:UnspecifiedMatching MONDO:0009238 hereditary folate malabsorption skos:exactMatch NCIT:C156424 Hereditary Folate Malabsorption semapv:UnspecifiedMatching MONDO:0009238 hereditary folate malabsorption skos:exactMatch OMIM:229050 folate malabsorption, hereditary semapv:UnspecifiedMatching MONDO:0009238 hereditary folate malabsorption skos:exactMatch Orphanet:90045 Hereditary folate malabsorption semapv:UnspecifiedMatching MONDO:0009238 hereditary folate malabsorption skos:exactMatch SCTID:62578003 semapv:UnspecifiedMatching MONDO:0009238 hereditary folate malabsorption skos:exactMatch UMLS:C0342705 semapv:UnspecifiedMatching MONDO:0009238 hereditary folate malabsorption skos:exactMatch icd11.foundation:773545237 Hereditary folate malabsorption semapv:UnspecifiedMatching MONDO:0009238 hereditary folate malabsorption skos:exactMatch mesh:C562799 semapv:UnspecifiedMatching MONDO:0009239 hypogonadotropic hypogonadism 24 without anosmia skos:exactMatch DOID:0090088 hypogonadotropic hypogonadism 24 without anosmia semapv:UnspecifiedMatching MONDO:0009239 hypogonadotropic hypogonadism 24 without anosmia skos:exactMatch MEDGEN:1806136 semapv:UnspecifiedMatching MONDO:0009239 hypogonadotropic hypogonadism 24 without anosmia skos:exactMatch OMIM:229070 hypogonadotropic hypogonadism 24 with or without anosmia semapv:UnspecifiedMatching MONDO:0009239 hypogonadotropic hypogonadism 24 without anosmia skos:exactMatch Orphanet:52901 Isolated follicle stimulating hormone deficiency semapv:UnspecifiedMatching MONDO:0009239 hypogonadotropic hypogonadism 24 without anosmia skos:exactMatch SCTID:758664007 semapv:UnspecifiedMatching MONDO:0009239 hypogonadotropic hypogonadism 24 without anosmia skos:exactMatch UMLS:C5574957 semapv:UnspecifiedMatching MONDO:0009239 hypogonadotropic hypogonadism 24 without anosmia skos:exactMatch mesh:C537070 semapv:UnspecifiedMatching MONDO:0009240 formiminoglutamic aciduria skos:exactMatch DOID:0111679 glutamate formiminotransferase deficiency semapv:UnspecifiedMatching MONDO:0009240 formiminoglutamic aciduria skos:exactMatch MEDGEN:82823 semapv:UnspecifiedMatching MONDO:0009240 formiminoglutamic aciduria skos:exactMatch OMIM:229100 glutamate formiminotransferase deficiency semapv:UnspecifiedMatching MONDO:0009240 formiminoglutamic aciduria skos:exactMatch Orphanet:51208 Formiminoglutamic aciduria semapv:UnspecifiedMatching MONDO:0009240 formiminoglutamic aciduria skos:exactMatch SCTID:59761008 semapv:UnspecifiedMatching MONDO:0009240 formiminoglutamic aciduria skos:exactMatch UMLS:C0268609 semapv:UnspecifiedMatching MONDO:0009240 formiminoglutamic aciduria skos:exactMatch icd11.foundation:664824338 Formiminoglutamic aciduria semapv:UnspecifiedMatching MONDO:0009240 formiminoglutamic aciduria skos:exactMatch mesh:C537425 semapv:UnspecifiedMatching MONDO:0009241 fountain syndrome skos:exactMatch MEDGEN:208650 semapv:UnspecifiedMatching MONDO:0009241 fountain syndrome skos:exactMatch OMIM:229120 fountain syndrome semapv:UnspecifiedMatching MONDO:0009241 fountain syndrome skos:exactMatch Orphanet:3219 Fountain syndrome semapv:UnspecifiedMatching MONDO:0009241 fountain syndrome skos:exactMatch SCTID:720957007 semapv:UnspecifiedMatching MONDO:0009241 fountain syndrome skos:exactMatch UMLS:C0795944 semapv:UnspecifiedMatching MONDO:0009241 fountain syndrome skos:exactMatch mesh:C537270 semapv:UnspecifiedMatching MONDO:0009242 brittle cornea syndrome skos:exactMatch DOID:14775 brittle cornea syndrome 1 semapv:UnspecifiedMatching MONDO:0009242 brittle cornea syndrome skos:exactMatch OMIMPS:229200 Brittle cornea syndrome semapv:UnspecifiedMatching MONDO:0009242 brittle cornea syndrome skos:exactMatch Orphanet:90354 Brittle cornea syndrome semapv:UnspecifiedMatching MONDO:0009242 brittle cornea syndrome skos:exactMatch SCTID:719096006 semapv:UnspecifiedMatching MONDO:0009243 Fraser-like syndrome skos:exactMatch MEDGEN:346426 semapv:UnspecifiedMatching MONDO:0009243 Fraser-like syndrome skos:exactMatch OMIM:229230 fraser-like syndrome semapv:UnspecifiedMatching MONDO:0009243 Fraser-like syndrome skos:exactMatch UMLS:C1856708 semapv:UnspecifiedMatching MONDO:0009243 Fraser-like syndrome skos:exactMatch mesh:C565562 semapv:UnspecifiedMatching MONDO:0009244 Freesia Flowers, inability to smell skos:exactMatch MEDGEN:383969 semapv:UnspecifiedMatching MONDO:0009244 Freesia Flowers, inability to smell skos:exactMatch OMIM:229250 freesia flowers, inability to smell semapv:UnspecifiedMatching MONDO:0009244 Freesia Flowers, inability to smell skos:exactMatch UMLS:C1856707 semapv:UnspecifiedMatching MONDO:0009246 Friedreich ataxia and congenital glaucoma skos:exactMatch MEDGEN:344787 semapv:UnspecifiedMatching MONDO:0009246 Friedreich ataxia and congenital glaucoma skos:exactMatch OMIM:229310 friedreich ataxia and congenital glaucoma semapv:UnspecifiedMatching MONDO:0009246 Friedreich ataxia and congenital glaucoma skos:exactMatch UMLS:C1856688 semapv:UnspecifiedMatching MONDO:0009246 Friedreich ataxia and congenital glaucoma skos:exactMatch mesh:C538061 semapv:UnspecifiedMatching MONDO:0009247 frontofacionasal dysplasia skos:exactMatch MEDGEN:444125 semapv:UnspecifiedMatching MONDO:0009247 frontofacionasal dysplasia skos:exactMatch OMIM:229400 frontofacionasal dysplasia semapv:UnspecifiedMatching MONDO:0009247 frontofacionasal dysplasia skos:exactMatch Orphanet:1791 Frontofacionasal dysplasia semapv:UnspecifiedMatching MONDO:0009247 frontofacionasal dysplasia skos:exactMatch SCTID:716022002 semapv:UnspecifiedMatching MONDO:0009247 frontofacionasal dysplasia skos:exactMatch UMLS:C2931720 semapv:UnspecifiedMatching MONDO:0009247 frontofacionasal dysplasia skos:exactMatch mesh:C538063 semapv:UnspecifiedMatching MONDO:0009248 fructose and galactose intolerance skos:exactMatch MEDGEN:341598 semapv:UnspecifiedMatching MONDO:0009248 fructose and galactose intolerance skos:exactMatch OMIM:229500 fructose and galactose intolerance semapv:UnspecifiedMatching MONDO:0009248 fructose and galactose intolerance skos:exactMatch UMLS:C1856686 semapv:UnspecifiedMatching MONDO:0009248 fructose and galactose intolerance skos:exactMatch mesh:C565558 semapv:UnspecifiedMatching MONDO:0009249 hereditary fructose intolerance skos:exactMatch DOID:9869 hereditary fructose intolerance syndrome semapv:UnspecifiedMatching MONDO:0009249 hereditary fructose intolerance skos:exactMatch ICD10CM:E74.12 Hereditary fructose intolerance semapv:UnspecifiedMatching MONDO:0009249 hereditary fructose intolerance skos:exactMatch MEDGEN:42105 semapv:UnspecifiedMatching MONDO:0009249 hereditary fructose intolerance skos:exactMatch NCIT:C84720 Hereditary Fructose Intolerance semapv:UnspecifiedMatching MONDO:0009249 hereditary fructose intolerance skos:exactMatch OMIM:229600 fructose intolerance, hereditary semapv:UnspecifiedMatching MONDO:0009249 hereditary fructose intolerance skos:exactMatch Orphanet:469 Hereditary fructose intolerance semapv:UnspecifiedMatching MONDO:0009249 hereditary fructose intolerance skos:exactMatch SCTID:20052008 semapv:UnspecifiedMatching MONDO:0009249 hereditary fructose intolerance skos:exactMatch UMLS:C0016751 semapv:UnspecifiedMatching MONDO:0009249 hereditary fructose intolerance skos:exactMatch icd11.foundation:1925240365 Hereditary fructose intolerance semapv:UnspecifiedMatching MONDO:0009250 obsolete fructose utilization skos:exactMatch OMIM:229650 fructose utilization semapv:UnspecifiedMatching MONDO:0009251 fructose-1,6-bisphosphatase deficiency skos:exactMatch DOID:5204 fructose-1,6-bisphosphatase deficiency semapv:UnspecifiedMatching MONDO:0009251 fructose-1,6-bisphosphatase deficiency skos:exactMatch MEDGEN:42106 semapv:UnspecifiedMatching MONDO:0009251 fructose-1,6-bisphosphatase deficiency skos:exactMatch NCIT:C128119 Fructose-1,6-Bisphosphatase Deficiency semapv:UnspecifiedMatching MONDO:0009251 fructose-1,6-bisphosphatase deficiency skos:exactMatch OMIM:229700 fructose-1,6-bisphosphatase deficiency semapv:UnspecifiedMatching MONDO:0009251 fructose-1,6-bisphosphatase deficiency skos:exactMatch Orphanet:348 Fructose-1,6-bisphosphatase deficiency semapv:UnspecifiedMatching MONDO:0009251 fructose-1,6-bisphosphatase deficiency skos:exactMatch SCTID:28183005 semapv:UnspecifiedMatching MONDO:0009251 fructose-1,6-bisphosphatase deficiency skos:exactMatch UMLS:C0016756 semapv:UnspecifiedMatching MONDO:0009252 essential fructosuria skos:exactMatch DOID:0111680 essential fructosuria semapv:UnspecifiedMatching MONDO:0009252 essential fructosuria skos:exactMatch ICD10CM:E74.11 Essential fructosuria semapv:UnspecifiedMatching MONDO:0009252 essential fructosuria skos:exactMatch MEDGEN:78645 semapv:UnspecifiedMatching MONDO:0009252 essential fructosuria skos:exactMatch OMIM:229800 fructosuria, essential semapv:UnspecifiedMatching MONDO:0009252 essential fructosuria skos:exactMatch Orphanet:2056 Essential fructosuria semapv:UnspecifiedMatching MONDO:0009252 essential fructosuria skos:exactMatch SCTID:40278002 semapv:UnspecifiedMatching MONDO:0009252 essential fructosuria skos:exactMatch UMLS:C0268160 semapv:UnspecifiedMatching MONDO:0009252 essential fructosuria skos:exactMatch icd11.foundation:1362211287 Essential fructosuria semapv:UnspecifiedMatching MONDO:0009252 essential fructosuria skos:exactMatch mesh:C538068 semapv:UnspecifiedMatching MONDO:0009253 Fryns syndrome skos:exactMatch MEDGEN:65088 semapv:UnspecifiedMatching MONDO:0009253 Fryns syndrome skos:exactMatch NCIT:C98932 Fryns Syndrome semapv:UnspecifiedMatching MONDO:0009253 Fryns syndrome skos:exactMatch OMIM:229850 fryns syndrome semapv:UnspecifiedMatching MONDO:0009253 Fryns syndrome skos:exactMatch Orphanet:2059 Fryns syndrome semapv:UnspecifiedMatching MONDO:0009253 Fryns syndrome skos:exactMatch SCTID:702432006 semapv:UnspecifiedMatching MONDO:0009253 Fryns syndrome skos:exactMatch UMLS:C0220730 semapv:UnspecifiedMatching MONDO:0009253 Fryns syndrome skos:exactMatch icd11.foundation:1327847749 Fryns syndrome semapv:UnspecifiedMatching MONDO:0009253 Fryns syndrome skos:exactMatch mesh:C538070 semapv:UnspecifiedMatching MONDO:0009254 fucosidosis skos:exactMatch DOID:14500 fucosidosis semapv:UnspecifiedMatching MONDO:0009254 fucosidosis skos:exactMatch MEDGEN:5288 semapv:UnspecifiedMatching MONDO:0009254 fucosidosis skos:exactMatch NCIT:C61274 Fucosidosis semapv:UnspecifiedMatching MONDO:0009254 fucosidosis skos:exactMatch OMIM:230000 fucosidosis semapv:UnspecifiedMatching MONDO:0009254 fucosidosis skos:exactMatch Orphanet:349 Fucosidosis semapv:UnspecifiedMatching MONDO:0009254 fucosidosis skos:exactMatch SCTID:64716005 semapv:UnspecifiedMatching MONDO:0009254 fucosidosis skos:exactMatch UMLS:C0016788 semapv:UnspecifiedMatching MONDO:0009254 fucosidosis skos:exactMatch icd11.foundation:1470242510 Fucosidosis semapv:UnspecifiedMatching MONDO:0009254 fucosidosis skos:exactMatch mesh:D005645 semapv:UnspecifiedMatching MONDO:0009255 galactokinase deficiency skos:exactMatch DOID:14695 galactokinase deficiency semapv:UnspecifiedMatching MONDO:0009255 galactokinase deficiency skos:exactMatch MEDGEN:120614 semapv:UnspecifiedMatching MONDO:0009255 galactokinase deficiency skos:exactMatch NCIT:C114767 Galactokinase Deficiency semapv:UnspecifiedMatching MONDO:0009255 galactokinase deficiency skos:exactMatch OMIM:230200 galactosemia 2 semapv:UnspecifiedMatching MONDO:0009255 galactokinase deficiency skos:exactMatch Orphanet:79237 Galactokinase deficiency semapv:UnspecifiedMatching MONDO:0009255 galactokinase deficiency skos:exactMatch SCTID:124302001 semapv:UnspecifiedMatching MONDO:0009255 galactokinase deficiency skos:exactMatch UMLS:C0268155 semapv:UnspecifiedMatching MONDO:0009255 galactokinase deficiency skos:exactMatch icd11.foundation:1173858031 Galactokinase deficiency semapv:UnspecifiedMatching MONDO:0009256 galactorrhea skos:exactMatch MEDGEN:777088 semapv:UnspecifiedMatching MONDO:0009256 galactorrhea skos:exactMatch NCIT:C113343 Galactorrhea semapv:UnspecifiedMatching MONDO:0009256 galactorrhea skos:exactMatch SCTID:78622004 semapv:UnspecifiedMatching MONDO:0009256 galactorrhea skos:exactMatch UMLS:C3665358 semapv:UnspecifiedMatching MONDO:0009256 galactorrhea skos:exactMatch mesh:D005687 semapv:UnspecifiedMatching MONDO:0009257 galactose epimerase deficiency skos:exactMatch DOID:0111458 galactose epimerase deficiency semapv:UnspecifiedMatching MONDO:0009257 galactose epimerase deficiency skos:exactMatch MEDGEN:199598 semapv:UnspecifiedMatching MONDO:0009257 galactose epimerase deficiency skos:exactMatch OMIM:230350 galactosemia 3 semapv:UnspecifiedMatching MONDO:0009257 galactose epimerase deficiency skos:exactMatch Orphanet:79238 Galactose epimerase deficiency semapv:UnspecifiedMatching MONDO:0009257 galactose epimerase deficiency skos:exactMatch SCTID:8849004 semapv:UnspecifiedMatching MONDO:0009257 galactose epimerase deficiency skos:exactMatch UMLS:C0751161 semapv:UnspecifiedMatching MONDO:0009258 classic galactosemia skos:exactMatch DOID:0111459 classic galactosemia semapv:UnspecifiedMatching MONDO:0009258 classic galactosemia skos:exactMatch MEDGEN:82777 semapv:UnspecifiedMatching MONDO:0009258 classic galactosemia skos:exactMatch OMIM:230400 galactosemia 1 semapv:UnspecifiedMatching MONDO:0009258 classic galactosemia skos:exactMatch Orphanet:79239 Classic galactosemia semapv:UnspecifiedMatching MONDO:0009258 classic galactosemia skos:exactMatch SCTID:10899004 semapv:UnspecifiedMatching MONDO:0009258 classic galactosemia skos:exactMatch UMLS:C0268151 semapv:UnspecifiedMatching MONDO:0009258 classic galactosemia skos:exactMatch icd11.foundation:2011000259 Galactose-1-phosphate uridyltransferase deficiency semapv:UnspecifiedMatching MONDO:0009259 gamma-glutamylcysteine synthetase deficiency skos:exactMatch DOID:0111681 congenital nonspherocytic hemolytic anemia 7 semapv:UnspecifiedMatching MONDO:0009259 gamma-glutamylcysteine synthetase deficiency skos:exactMatch MEDGEN:347272 semapv:UnspecifiedMatching MONDO:0009259 gamma-glutamylcysteine synthetase deficiency skos:exactMatch OMIM:230450 anemia, congenital, nonspherocytic hemolytic, 7 semapv:UnspecifiedMatching MONDO:0009259 gamma-glutamylcysteine synthetase deficiency skos:exactMatch Orphanet:33574 Glutamate-cysteine ligase deficiency semapv:UnspecifiedMatching MONDO:0009259 gamma-glutamylcysteine synthetase deficiency skos:exactMatch SCTID:36799008 semapv:UnspecifiedMatching MONDO:0009259 gamma-glutamylcysteine synthetase deficiency skos:exactMatch UMLS:C1856603 semapv:UnspecifiedMatching MONDO:0009259 gamma-glutamylcysteine synthetase deficiency skos:exactMatch mesh:C565557 semapv:UnspecifiedMatching MONDO:0009260 GM1 gangliosidosis type 1 skos:exactMatch DOID:0080502 GM1 gangliosidosis type 1 semapv:UnspecifiedMatching MONDO:0009260 GM1 gangliosidosis type 1 skos:exactMatch MEDGEN:75665 semapv:UnspecifiedMatching MONDO:0009260 GM1 gangliosidosis type 1 skos:exactMatch OMIM:230500 gm1-gangliosidosis, type 1 semapv:UnspecifiedMatching MONDO:0009260 GM1 gangliosidosis type 1 skos:exactMatch Orphanet:79255 GM1 gangliosidosis type 1 semapv:UnspecifiedMatching MONDO:0009260 GM1 gangliosidosis type 1 skos:exactMatch SCTID:238026007 semapv:UnspecifiedMatching MONDO:0009260 GM1 gangliosidosis type 1 skos:exactMatch UMLS:C0268271 semapv:UnspecifiedMatching MONDO:0009260 GM1 gangliosidosis type 1 skos:exactMatch icd11.foundation:466200180 GM1 gangliosidosis type 1 semapv:UnspecifiedMatching MONDO:0009261 GM1 gangliosidosis type 2 skos:exactMatch DOID:0080501 GM1 gangliosidosis type 2 semapv:UnspecifiedMatching MONDO:0009261 GM1 gangliosidosis type 2 skos:exactMatch MEDGEN:120625 semapv:UnspecifiedMatching MONDO:0009261 GM1 gangliosidosis type 2 skos:exactMatch OMIM:230600 gm1-gangliosidosis, type 2 semapv:UnspecifiedMatching MONDO:0009261 GM1 gangliosidosis type 2 skos:exactMatch Orphanet:79256 GM1 gangliosidosis type 2 semapv:UnspecifiedMatching MONDO:0009261 GM1 gangliosidosis type 2 skos:exactMatch SCTID:18756002 semapv:UnspecifiedMatching MONDO:0009261 GM1 gangliosidosis type 2 skos:exactMatch UMLS:C0268272 semapv:UnspecifiedMatching MONDO:0009261 GM1 gangliosidosis type 2 skos:exactMatch icd11.foundation:1132250614 GM1 gangliosidosis type 2 semapv:UnspecifiedMatching MONDO:0009262 GM1 gangliosidosis type 3 skos:exactMatch DOID:0080489 GM1 gangliosidosis type 3 semapv:UnspecifiedMatching MONDO:0009262 GM1 gangliosidosis type 3 skos:exactMatch MEDGEN:78655 semapv:UnspecifiedMatching MONDO:0009262 GM1 gangliosidosis type 3 skos:exactMatch OMIM:230650 gm1-gangliosidosis, type 3 semapv:UnspecifiedMatching MONDO:0009262 GM1 gangliosidosis type 3 skos:exactMatch Orphanet:79257 GM1 gangliosidosis type 3 semapv:UnspecifiedMatching MONDO:0009262 GM1 gangliosidosis type 3 skos:exactMatch SCTID:238027003 semapv:UnspecifiedMatching MONDO:0009262 GM1 gangliosidosis type 3 skos:exactMatch UMLS:C0268273 semapv:UnspecifiedMatching MONDO:0009262 GM1 gangliosidosis type 3 skos:exactMatch icd11.foundation:1331496842 GM1 gangliosidosis type 3 semapv:UnspecifiedMatching MONDO:0009263 GAPO syndrome skos:exactMatch DOID:0112249 GAPO syndrome semapv:UnspecifiedMatching MONDO:0009263 GAPO syndrome skos:exactMatch MEDGEN:98034 semapv:UnspecifiedMatching MONDO:0009263 GAPO syndrome skos:exactMatch OMIM:230740 gapo syndrome semapv:UnspecifiedMatching MONDO:0009263 GAPO syndrome skos:exactMatch Orphanet:2067 GAPO syndrome semapv:UnspecifiedMatching MONDO:0009263 GAPO syndrome skos:exactMatch SCTID:721843003 semapv:UnspecifiedMatching MONDO:0009263 GAPO syndrome skos:exactMatch UMLS:C0406723 semapv:UnspecifiedMatching MONDO:0009263 GAPO syndrome skos:exactMatch icd11.foundation:909165198 GAPO syndrome semapv:UnspecifiedMatching MONDO:0009263 GAPO syndrome skos:exactMatch mesh:C535642 semapv:UnspecifiedMatching MONDO:0009264 gastroschisis skos:exactMatch DOID:11044 gastroschisis semapv:UnspecifiedMatching MONDO:0009264 gastroschisis skos:exactMatch EFO:1000949 semapv:UnspecifiedMatching MONDO:0009264 gastroschisis skos:exactMatch ICD10CM:Q79.3 Gastroschisis semapv:UnspecifiedMatching MONDO:0009264 gastroschisis skos:exactMatch MEDGEN:82721 semapv:UnspecifiedMatching MONDO:0009264 gastroschisis skos:exactMatch NCIT:C84725 Gastroschisis semapv:UnspecifiedMatching MONDO:0009264 gastroschisis skos:exactMatch OMIM:230750 gastroschisis semapv:UnspecifiedMatching MONDO:0009264 gastroschisis skos:exactMatch Orphanet:2368 Gastroschisis semapv:UnspecifiedMatching MONDO:0009264 gastroschisis skos:exactMatch SCTID:72951007 semapv:UnspecifiedMatching MONDO:0009264 gastroschisis skos:exactMatch UMLS:C0265706 semapv:UnspecifiedMatching MONDO:0009264 gastroschisis skos:exactMatch icd11.foundation:551758329 Gastroschisis semapv:UnspecifiedMatching MONDO:0009264 gastroschisis skos:exactMatch mesh:D020139 semapv:UnspecifiedMatching MONDO:0009265 Gaucher disease type I skos:exactMatch DOID:0110957 Gaucher's disease type I semapv:UnspecifiedMatching MONDO:0009265 Gaucher disease type I skos:exactMatch MEDGEN:409531 semapv:UnspecifiedMatching MONDO:0009265 Gaucher disease type I skos:exactMatch OMIM:230800 gaucher disease, type 1 semapv:UnspecifiedMatching MONDO:0009265 Gaucher disease type I skos:exactMatch Orphanet:77259 Gaucher disease type 1 semapv:UnspecifiedMatching MONDO:0009265 Gaucher disease type I skos:exactMatch SCTID:62201009 semapv:UnspecifiedMatching MONDO:0009265 Gaucher disease type I skos:exactMatch UMLS:C1961835 semapv:UnspecifiedMatching MONDO:0009266 Gaucher disease type II skos:exactMatch DOID:0110958 Gaucher's disease type II semapv:UnspecifiedMatching MONDO:0009266 Gaucher disease type II skos:exactMatch MEDGEN:78652 semapv:UnspecifiedMatching MONDO:0009266 Gaucher disease type II skos:exactMatch OMIM:230900 gaucher disease, type 2 semapv:UnspecifiedMatching MONDO:0009266 Gaucher disease type II skos:exactMatch Orphanet:77260 Gaucher disease type 2 semapv:UnspecifiedMatching MONDO:0009266 Gaucher disease type II skos:exactMatch SCTID:12246008 semapv:UnspecifiedMatching MONDO:0009266 Gaucher disease type II skos:exactMatch UMLS:C0268250 semapv:UnspecifiedMatching MONDO:0009267 Gaucher disease type III skos:exactMatch DOID:0110959 Gaucher's disease type III semapv:UnspecifiedMatching MONDO:0009267 Gaucher disease type III skos:exactMatch MEDGEN:78653 semapv:UnspecifiedMatching MONDO:0009267 Gaucher disease type III skos:exactMatch OMIM:231000 gaucher disease, type 3 semapv:UnspecifiedMatching MONDO:0009267 Gaucher disease type III skos:exactMatch Orphanet:77261 Gaucher disease type 3 semapv:UnspecifiedMatching MONDO:0009267 Gaucher disease type III skos:exactMatch SCTID:5963005 semapv:UnspecifiedMatching MONDO:0009267 Gaucher disease type III skos:exactMatch UMLS:C0268251 semapv:UnspecifiedMatching MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome skos:exactMatch DOID:0112250 Gaucher's disease type IIIC semapv:UnspecifiedMatching MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome skos:exactMatch MEDGEN:341563 semapv:UnspecifiedMatching MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome skos:exactMatch OMIM:231005 gaucher disease, type 3c semapv:UnspecifiedMatching MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome skos:exactMatch Orphanet:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome semapv:UnspecifiedMatching MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome skos:exactMatch SCTID:1156813002 semapv:UnspecifiedMatching MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome skos:exactMatch UMLS:C1856476 semapv:UnspecifiedMatching MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome skos:exactMatch mesh:C565553 semapv:UnspecifiedMatching MONDO:0009269 geleophysic dysplasia 1 skos:exactMatch DOID:0111725 geleophysic dysplasia 1 semapv:UnspecifiedMatching MONDO:0009269 geleophysic dysplasia 1 skos:exactMatch MEDGEN:479777 semapv:UnspecifiedMatching MONDO:0009269 geleophysic dysplasia 1 skos:exactMatch OMIM:231050 geleophysic dysplasia 1 semapv:UnspecifiedMatching MONDO:0009269 geleophysic dysplasia 1 skos:exactMatch UMLS:C3278147 semapv:UnspecifiedMatching MONDO:0009270 genito-palato-cardiac syndrome skos:exactMatch MEDGEN:341558 semapv:UnspecifiedMatching MONDO:0009270 genito-palato-cardiac syndrome skos:exactMatch OMIM:231060 genitopalatocardiac syndrome semapv:UnspecifiedMatching MONDO:0009270 genito-palato-cardiac syndrome skos:exactMatch Orphanet:2075 Genitopalatocardiac syndrome semapv:UnspecifiedMatching MONDO:0009270 genito-palato-cardiac syndrome skos:exactMatch UMLS:C1856466 semapv:UnspecifiedMatching MONDO:0009270 genito-palato-cardiac syndrome skos:exactMatch icd11.foundation:2011995320 Genito-palato-cardiac syndrome semapv:UnspecifiedMatching MONDO:0009270 genito-palato-cardiac syndrome skos:exactMatch mesh:C537683 semapv:UnspecifiedMatching MONDO:0009271 geroderma osteodysplastica skos:exactMatch DOID:0111266 geroderma osteodysplasticum semapv:UnspecifiedMatching MONDO:0009271 geroderma osteodysplastica skos:exactMatch MEDGEN:98149 semapv:UnspecifiedMatching MONDO:0009271 geroderma osteodysplastica skos:exactMatch OMIM:231070 geroderma osteodysplasticum semapv:UnspecifiedMatching MONDO:0009271 geroderma osteodysplastica skos:exactMatch Orphanet:2078 Geroderma osteodysplastica semapv:UnspecifiedMatching MONDO:0009271 geroderma osteodysplastica skos:exactMatch SCTID:254116003 semapv:UnspecifiedMatching MONDO:0009271 geroderma osteodysplastica skos:exactMatch UMLS:C0432255 semapv:UnspecifiedMatching MONDO:0009271 geroderma osteodysplastica skos:exactMatch mesh:C537799 semapv:UnspecifiedMatching MONDO:0009272 German syndrome skos:exactMatch MEDGEN:854357 semapv:UnspecifiedMatching MONDO:0009272 German syndrome skos:exactMatch OMIM:231080 german syndrome semapv:UnspecifiedMatching MONDO:0009272 German syndrome skos:exactMatch Orphanet:2077 German syndrome semapv:UnspecifiedMatching MONDO:0009272 German syndrome skos:exactMatch SCTID:733037000 semapv:UnspecifiedMatching MONDO:0009272 German syndrome skos:exactMatch UMLS:C3887495 semapv:UnspecifiedMatching MONDO:0009272 German syndrome skos:exactMatch mesh:C562543 semapv:UnspecifiedMatching MONDO:0009273 hydatidiform mole, recurrent, 1 skos:exactMatch MEDGEN:483038 semapv:UnspecifiedMatching MONDO:0009273 hydatidiform mole, recurrent, 1 skos:exactMatch OMIM:231090 hydatidiform mole, recurrent, 1 semapv:UnspecifiedMatching MONDO:0009273 hydatidiform mole, recurrent, 1 skos:exactMatch UMLS:C3463897 semapv:UnspecifiedMatching MONDO:0009274 ghosal hematodiaphyseal dysplasia skos:exactMatch DOID:0112251 Ghosal hematodiaphyseal syndrome semapv:UnspecifiedMatching MONDO:0009274 ghosal hematodiaphyseal dysplasia skos:exactMatch MEDGEN:344739 semapv:UnspecifiedMatching MONDO:0009274 ghosal hematodiaphyseal dysplasia skos:exactMatch OMIM:231095 ghosal hematodiaphyseal dysplasia semapv:UnspecifiedMatching MONDO:0009274 ghosal hematodiaphyseal dysplasia skos:exactMatch Orphanet:1802 Ghosal hematodiaphyseal dysplasia semapv:UnspecifiedMatching MONDO:0009274 ghosal hematodiaphyseal dysplasia skos:exactMatch SCTID:389214003 semapv:UnspecifiedMatching MONDO:0009274 ghosal hematodiaphyseal dysplasia skos:exactMatch UMLS:C1856465 semapv:UnspecifiedMatching MONDO:0009274 ghosal hematodiaphyseal dysplasia skos:exactMatch mesh:C565551 semapv:UnspecifiedMatching MONDO:0009275 neonatal hemochromatosis skos:exactMatch MEDGEN:82768 semapv:UnspecifiedMatching MONDO:0009275 neonatal hemochromatosis skos:exactMatch NCIT:C129980 Neonatal Hemochromatosis semapv:UnspecifiedMatching MONDO:0009275 neonatal hemochromatosis skos:exactMatch OMIM:231100 hemochromatosis, neonatal semapv:UnspecifiedMatching MONDO:0009275 neonatal hemochromatosis skos:exactMatch Orphanet:446 Neonatal hemochromatosis semapv:UnspecifiedMatching MONDO:0009275 neonatal hemochromatosis skos:exactMatch UMLS:C0268059 semapv:UnspecifiedMatching MONDO:0009275 neonatal hemochromatosis skos:exactMatch mesh:C536394 semapv:UnspecifiedMatching MONDO:0009276 Bernard-Soulier syndrome skos:exactMatch DOID:2217 Bernard-Soulier syndrome semapv:UnspecifiedMatching MONDO:0009276 Bernard-Soulier syndrome skos:exactMatch MEDGEN:2212 semapv:UnspecifiedMatching MONDO:0009276 Bernard-Soulier syndrome skos:exactMatch NCIT:C84595 Bernard-Soulier Syndrome semapv:UnspecifiedMatching MONDO:0009276 Bernard-Soulier syndrome skos:exactMatch OMIM:231200 bernard-soulier syndrome semapv:UnspecifiedMatching MONDO:0009276 Bernard-Soulier syndrome skos:exactMatch Orphanet:274 Bernard-Soulier syndrome semapv:UnspecifiedMatching MONDO:0009276 Bernard-Soulier syndrome skos:exactMatch SCTID:234478007 semapv:UnspecifiedMatching MONDO:0009276 Bernard-Soulier syndrome skos:exactMatch UMLS:C0005129 semapv:UnspecifiedMatching MONDO:0009276 Bernard-Soulier syndrome skos:exactMatch icd11.foundation:507309898 Bernard-Soulier syndrome semapv:UnspecifiedMatching MONDO:0009276 Bernard-Soulier syndrome skos:exactMatch mesh:D001606 semapv:UnspecifiedMatching MONDO:0009277 glaucoma 3A skos:exactMatch DOID:11211 buphthalmos semapv:UnspecifiedMatching MONDO:0009277 glaucoma 3A skos:exactMatch MEDGEN:383912 semapv:UnspecifiedMatching MONDO:0009277 glaucoma 3A skos:exactMatch NCIT:C148260 Primary Congenital Glaucoma 3A semapv:UnspecifiedMatching MONDO:0009277 glaucoma 3A skos:exactMatch OMIM:231300 glaucoma 3, primary congenital, a semapv:UnspecifiedMatching MONDO:0009277 glaucoma 3A skos:exactMatch Orphanet:98976 Congenital glaucoma semapv:UnspecifiedMatching MONDO:0009277 glaucoma 3A skos:exactMatch UMLS:C1856439 semapv:UnspecifiedMatching MONDO:0009279 triple-A syndrome skos:exactMatch DOID:0050602 triple-A syndrome semapv:UnspecifiedMatching MONDO:0009279 triple-A syndrome skos:exactMatch MEDGEN:82889 semapv:UnspecifiedMatching MONDO:0009279 triple-A syndrome skos:exactMatch OMIM:231550 achalasia-addisonianism-alacrima syndrome semapv:UnspecifiedMatching MONDO:0009279 triple-A syndrome skos:exactMatch Orphanet:869 Triple A syndrome semapv:UnspecifiedMatching MONDO:0009279 triple-A syndrome skos:exactMatch SCTID:45414006 semapv:UnspecifiedMatching MONDO:0009279 triple-A syndrome skos:exactMatch UMLS:C0271742 semapv:UnspecifiedMatching MONDO:0009279 triple-A syndrome skos:exactMatch mesh:C536008 semapv:UnspecifiedMatching MONDO:0009280 monosodium glutamate sensitivity skos:exactMatch MEDGEN:891 semapv:UnspecifiedMatching MONDO:0009280 monosodium glutamate sensitivity skos:exactMatch OMIM:231630 monosodium glutamate sensitivity semapv:UnspecifiedMatching MONDO:0009280 monosodium glutamate sensitivity skos:exactMatch SCTID:56344009 semapv:UnspecifiedMatching MONDO:0009280 monosodium glutamate sensitivity skos:exactMatch UMLS:C0008127 semapv:UnspecifiedMatching MONDO:0009280 monosodium glutamate sensitivity skos:exactMatch mesh:C562377 semapv:UnspecifiedMatching MONDO:0009281 glutaryl-CoA dehydrogenase deficiency skos:exactMatch DOID:0111254 glutaric acidemia I semapv:UnspecifiedMatching MONDO:0009281 glutaryl-CoA dehydrogenase deficiency skos:exactMatch MEDGEN:124337 semapv:UnspecifiedMatching MONDO:0009281 glutaryl-CoA dehydrogenase deficiency skos:exactMatch NCIT:C99101 Glutaric Acidemia Type 1 semapv:UnspecifiedMatching MONDO:0009281 glutaryl-CoA dehydrogenase deficiency skos:exactMatch OMIM:231670 glutaric acidemia 1 semapv:UnspecifiedMatching MONDO:0009281 glutaryl-CoA dehydrogenase deficiency skos:exactMatch Orphanet:25 Glutaryl-CoA dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0009281 glutaryl-CoA dehydrogenase deficiency skos:exactMatch SCTID:76175005 semapv:UnspecifiedMatching MONDO:0009281 glutaryl-CoA dehydrogenase deficiency skos:exactMatch UMLS:C0268595 semapv:UnspecifiedMatching MONDO:0009281 glutaryl-CoA dehydrogenase deficiency skos:exactMatch mesh:C536833 semapv:UnspecifiedMatching MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:exactMatch DOID:0060358 multiple acyl-CoA dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:exactMatch ICD10CM:E71.313 Glutaric aciduria type II semapv:UnspecifiedMatching MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:exactMatch MEDGEN:75696 semapv:UnspecifiedMatching MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:exactMatch NCIT:C84907 Multiple Acyl-CoA Dehydrogenase Deficiency semapv:UnspecifiedMatching MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:exactMatch OMIM:231680 multiple acyl-coa dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:exactMatch Orphanet:26791 Multiple acyl-CoA dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:exactMatch UMLS:C0268596 semapv:UnspecifiedMatching MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:exactMatch icd11.foundation:977130875 Multiple acyl-CoA dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0009283 glutaric acidemia type 3 skos:exactMatch DOID:0112246 glutaric acidemia type 3 semapv:UnspecifiedMatching MONDO:0009283 glutaric acidemia type 3 skos:exactMatch MEDGEN:87464 semapv:UnspecifiedMatching MONDO:0009283 glutaric acidemia type 3 skos:exactMatch OMIM:231690 glutaric aciduria 3 semapv:UnspecifiedMatching MONDO:0009283 glutaric acidemia type 3 skos:exactMatch Orphanet:35706 Glutaric acidemia type 3 semapv:UnspecifiedMatching MONDO:0009283 glutaric acidemia type 3 skos:exactMatch SCTID:238070003 semapv:UnspecifiedMatching MONDO:0009283 glutaric acidemia type 3 skos:exactMatch UMLS:C0342873 semapv:UnspecifiedMatching MONDO:0009283 glutaric acidemia type 3 skos:exactMatch mesh:C562818 semapv:UnspecifiedMatching MONDO:0009284 glutathione synthetase deficiency without 5-oxoprolinuria skos:exactMatch DOID:0112252 congenital nonspherocytic hemolytic anemia 6 semapv:UnspecifiedMatching MONDO:0009284 glutathione synthetase deficiency without 5-oxoprolinuria skos:exactMatch MEDGEN:343541 semapv:UnspecifiedMatching MONDO:0009284 glutathione synthetase deficiency without 5-oxoprolinuria skos:exactMatch OMIM:231900 anemia, congenital, nonspherocytic hemolytic, 6 semapv:UnspecifiedMatching MONDO:0009284 glutathione synthetase deficiency without 5-oxoprolinuria skos:exactMatch Orphanet:289849 Glutathione synthetase deficiency without 5-oxoprolinuria semapv:UnspecifiedMatching MONDO:0009284 glutathione synthetase deficiency without 5-oxoprolinuria skos:exactMatch UMLS:C1856399 semapv:UnspecifiedMatching MONDO:0009284 glutathione synthetase deficiency without 5-oxoprolinuria skos:exactMatch icd11.foundation:178842925 Glutathione synthetase deficiency without 5-oxoprolinuria semapv:UnspecifiedMatching MONDO:0009284 glutathione synthetase deficiency without 5-oxoprolinuria skos:exactMatch mesh:C565545 semapv:UnspecifiedMatching MONDO:0009285 gamma-glutamyl transpeptidase deficiency skos:exactMatch DOID:0111257 gamma-glutamyl transpeptidase deficiency semapv:UnspecifiedMatching MONDO:0009285 gamma-glutamyl transpeptidase deficiency skos:exactMatch MEDGEN:82813 semapv:UnspecifiedMatching MONDO:0009285 gamma-glutamyl transpeptidase deficiency skos:exactMatch OMIM:231950 glutathionuria semapv:UnspecifiedMatching MONDO:0009285 gamma-glutamyl transpeptidase deficiency skos:exactMatch Orphanet:33573 Gamma-glutamyl transpeptidase deficiency semapv:UnspecifiedMatching MONDO:0009285 gamma-glutamyl transpeptidase deficiency skos:exactMatch SCTID:78586005 semapv:UnspecifiedMatching MONDO:0009285 gamma-glutamyl transpeptidase deficiency skos:exactMatch UMLS:C0268524 semapv:UnspecifiedMatching MONDO:0009285 gamma-glutamyl transpeptidase deficiency skos:exactMatch icd11.foundation:2074850874 Gamma-glutamyl transpeptidase deficiency semapv:UnspecifiedMatching MONDO:0009285 gamma-glutamyl transpeptidase deficiency skos:exactMatch mesh:C536836 semapv:UnspecifiedMatching MONDO:0009286 gluteal muscles, absence of skos:exactMatch MEDGEN:383902 semapv:UnspecifiedMatching MONDO:0009286 gluteal muscles, absence of skos:exactMatch OMIM:231970 gluteal muscles, absence of semapv:UnspecifiedMatching MONDO:0009286 gluteal muscles, absence of skos:exactMatch UMLS:C1856398 semapv:UnspecifiedMatching MONDO:0009286 gluteal muscles, absence of skos:exactMatch mesh:C535561 semapv:UnspecifiedMatching MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:exactMatch DOID:2749 glycogen storage disease Ia semapv:UnspecifiedMatching MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:exactMatch MEDGEN:415885 semapv:UnspecifiedMatching MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:exactMatch OMIM:232200 glycogen storage disease ia semapv:UnspecifiedMatching MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:exactMatch Orphanet:79258 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia semapv:UnspecifiedMatching MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:exactMatch SCTID:444707001 semapv:UnspecifiedMatching MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:exactMatch UMLS:C2919796 semapv:UnspecifiedMatching MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:exactMatch mesh:C538655 semapv:UnspecifiedMatching MONDO:0009288 glycogen storage disease Ib skos:exactMatch DOID:0081330 glycogen storage disease Ib semapv:UnspecifiedMatching MONDO:0009288 glycogen storage disease Ib skos:exactMatch DOID:0081331 glycogen storage disease Ic semapv:UnspecifiedMatching MONDO:0009288 glycogen storage disease Ib skos:exactMatch MEDGEN:78644 semapv:UnspecifiedMatching MONDO:0009288 glycogen storage disease Ib skos:exactMatch NCIT:C122661 Glycogen Storage Disease Type Ib semapv:UnspecifiedMatching MONDO:0009288 glycogen storage disease Ib skos:exactMatch OMIM:232220 glycogen storage disease ib semapv:UnspecifiedMatching MONDO:0009288 glycogen storage disease Ib skos:exactMatch OMIM:232240 glycogen storage disease ic semapv:UnspecifiedMatching MONDO:0009288 glycogen storage disease Ib skos:exactMatch Orphanet:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib semapv:UnspecifiedMatching MONDO:0009288 glycogen storage disease Ib skos:exactMatch SCTID:237965005 semapv:UnspecifiedMatching MONDO:0009288 glycogen storage disease Ib skos:exactMatch SCTID:30102006 semapv:UnspecifiedMatching MONDO:0009288 glycogen storage disease Ib skos:exactMatch UMLS:C0268146 semapv:UnspecifiedMatching MONDO:0009288 glycogen storage disease Ib skos:exactMatch mesh:C562594 semapv:UnspecifiedMatching MONDO:0009290 glycogen storage disease II skos:exactMatch DOID:2752 glycogen storage disease II semapv:UnspecifiedMatching MONDO:0009290 glycogen storage disease II skos:exactMatch ICD10CM:E74.02 Pompe disease semapv:UnspecifiedMatching MONDO:0009290 glycogen storage disease II skos:exactMatch MEDGEN:5340 semapv:UnspecifiedMatching MONDO:0009290 glycogen storage disease II skos:exactMatch NCIT:C84734 Glycogen Storage Disease Type II semapv:UnspecifiedMatching MONDO:0009290 glycogen storage disease II skos:exactMatch Orphanet:365 Glycogen storage disease due to acid maltase deficiency semapv:UnspecifiedMatching MONDO:0009290 glycogen storage disease II skos:exactMatch SCTID:274864009 semapv:UnspecifiedMatching MONDO:0009290 glycogen storage disease II skos:exactMatch UMLS:C0017921 semapv:UnspecifiedMatching MONDO:0009290 glycogen storage disease II skos:exactMatch icd11.foundation:1427054474 Glycogen storage disease due to acid maltase deficiency semapv:UnspecifiedMatching MONDO:0009291 glycogen storage disease III skos:exactMatch DOID:2748 glycogen storage disease III semapv:UnspecifiedMatching MONDO:0009291 glycogen storage disease III skos:exactMatch ICD10CM:E74.03 Cori disease semapv:UnspecifiedMatching MONDO:0009291 glycogen storage disease III skos:exactMatch MEDGEN:6641 semapv:UnspecifiedMatching MONDO:0009291 glycogen storage disease III skos:exactMatch NCIT:C84736 Glycogen Storage Disease Type III semapv:UnspecifiedMatching MONDO:0009291 glycogen storage disease III skos:exactMatch OMIM:232400 glycogen storage disease 3 semapv:UnspecifiedMatching MONDO:0009291 glycogen storage disease III skos:exactMatch Orphanet:366 Glycogen storage disease due to glycogen debranching enzyme deficiency semapv:UnspecifiedMatching MONDO:0009291 glycogen storage disease III skos:exactMatch SCTID:66937008 semapv:UnspecifiedMatching MONDO:0009291 glycogen storage disease III skos:exactMatch UMLS:C0017922 semapv:UnspecifiedMatching MONDO:0009291 glycogen storage disease III skos:exactMatch mesh:D006010 semapv:UnspecifiedMatching MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:exactMatch DOID:2750 glycogen storage disease IV semapv:UnspecifiedMatching MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:exactMatch MEDGEN:6642 semapv:UnspecifiedMatching MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:exactMatch NCIT:C84737 Glycogen Storage Disease Type IV semapv:UnspecifiedMatching MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:exactMatch OMIM:232500 glycogen storage disease 4 semapv:UnspecifiedMatching MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:exactMatch Orphanet:367 Glycogen storage disease due to glycogen branching enzyme deficiency semapv:UnspecifiedMatching MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:exactMatch SCTID:124267007 semapv:UnspecifiedMatching MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:exactMatch UMLS:C0017923 semapv:UnspecifiedMatching MONDO:0009293 glycogen storage disease V skos:exactMatch DOID:2746 glycogen storage disease V semapv:UnspecifiedMatching MONDO:0009293 glycogen storage disease V skos:exactMatch ICD10CM:E74.04 McArdle disease semapv:UnspecifiedMatching MONDO:0009293 glycogen storage disease V skos:exactMatch MEDGEN:5341 semapv:UnspecifiedMatching MONDO:0009293 glycogen storage disease V skos:exactMatch NCIT:C84738 Glycogen Storage Disease Type V semapv:UnspecifiedMatching MONDO:0009293 glycogen storage disease V skos:exactMatch OMIM:232600 glycogen storage disease 5 semapv:UnspecifiedMatching MONDO:0009293 glycogen storage disease V skos:exactMatch Orphanet:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency semapv:UnspecifiedMatching MONDO:0009293 glycogen storage disease V skos:exactMatch SCTID:55912009 semapv:UnspecifiedMatching MONDO:0009293 glycogen storage disease V skos:exactMatch UMLS:C0017924 semapv:UnspecifiedMatching MONDO:0009293 glycogen storage disease V skos:exactMatch mesh:D006012 semapv:UnspecifiedMatching MONDO:0009294 glycogen storage disease VI skos:exactMatch DOID:2754 glycogen storage disease VI semapv:UnspecifiedMatching MONDO:0009294 glycogen storage disease VI skos:exactMatch MEDGEN:6643 semapv:UnspecifiedMatching MONDO:0009294 glycogen storage disease VI skos:exactMatch NCIT:C126875 Glycogen Storage Disease Type VI semapv:UnspecifiedMatching MONDO:0009294 glycogen storage disease VI skos:exactMatch OMIM:232700 glycogen storage disease 6 semapv:UnspecifiedMatching MONDO:0009294 glycogen storage disease VI skos:exactMatch Orphanet:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency semapv:UnspecifiedMatching MONDO:0009294 glycogen storage disease VI skos:exactMatch SCTID:29291001 semapv:UnspecifiedMatching MONDO:0009294 glycogen storage disease VI skos:exactMatch UMLS:C0017925 semapv:UnspecifiedMatching MONDO:0009294 glycogen storage disease VI skos:exactMatch mesh:D006013 semapv:UnspecifiedMatching MONDO:0009295 glycogen storage disease VII skos:exactMatch DOID:11721 glycogen storage disease VII semapv:UnspecifiedMatching MONDO:0009295 glycogen storage disease VII skos:exactMatch MEDGEN:5342 semapv:UnspecifiedMatching MONDO:0009295 glycogen storage disease VII skos:exactMatch NCIT:C118437 Glycogen Storage Disease Type VII semapv:UnspecifiedMatching MONDO:0009295 glycogen storage disease VII skos:exactMatch OMIM:232800 glycogen storage disease 7 semapv:UnspecifiedMatching MONDO:0009295 glycogen storage disease VII skos:exactMatch Orphanet:371 Glycogen storage disease due to muscle phosphofructokinase deficiency semapv:UnspecifiedMatching MONDO:0009295 glycogen storage disease VII skos:exactMatch SCTID:89597008 semapv:UnspecifiedMatching MONDO:0009295 glycogen storage disease VII skos:exactMatch UMLS:C0017926 semapv:UnspecifiedMatching MONDO:0009295 glycogen storage disease VII skos:exactMatch mesh:D006014 semapv:UnspecifiedMatching MONDO:0009296 glycoprotein storage disease skos:exactMatch MEDGEN:343516 semapv:UnspecifiedMatching MONDO:0009296 glycoprotein storage disease skos:exactMatch OMIM:232900 glycoprotein storage disease semapv:UnspecifiedMatching MONDO:0009296 glycoprotein storage disease skos:exactMatch SCTID:7810004 semapv:UnspecifiedMatching MONDO:0009296 glycoprotein storage disease skos:exactMatch UMLS:C1856275 semapv:UnspecifiedMatching MONDO:0009296 glycoprotein storage disease skos:exactMatch mesh:C565538 semapv:UnspecifiedMatching MONDO:0009297 familial renal glucosuria skos:exactMatch DOID:0070613 familial renal glucosuria semapv:UnspecifiedMatching MONDO:0009297 familial renal glucosuria skos:exactMatch DOID:9432 renal glycosuria semapv:UnspecifiedMatching MONDO:0009297 familial renal glucosuria skos:exactMatch MEDGEN:757652 semapv:UnspecifiedMatching MONDO:0009297 familial renal glucosuria skos:exactMatch OMIM:233100 renal glucosuria semapv:UnspecifiedMatching MONDO:0009297 familial renal glucosuria skos:exactMatch Orphanet:69076 Familial renal glucosuria semapv:UnspecifiedMatching MONDO:0009297 familial renal glucosuria skos:exactMatch SCTID:267430007 semapv:UnspecifiedMatching MONDO:0009297 familial renal glucosuria skos:exactMatch UMLS:C3245525 semapv:UnspecifiedMatching MONDO:0009297 familial renal glucosuria skos:exactMatch icd11.foundation:381783069 Familial renal glucosuria semapv:UnspecifiedMatching MONDO:0009297 familial renal glucosuria skos:exactMatch mesh:D006030 semapv:UnspecifiedMatching MONDO:0009298 GOMBO syndrome skos:exactMatch MEDGEN:343515 semapv:UnspecifiedMatching MONDO:0009298 GOMBO syndrome skos:exactMatch OMIM:233270 gombo syndrome semapv:UnspecifiedMatching MONDO:0009298 GOMBO syndrome skos:exactMatch UMLS:C1856274 semapv:UnspecifiedMatching MONDO:0009298 GOMBO syndrome skos:exactMatch mesh:C537284 semapv:UnspecifiedMatching MONDO:0009299 46 XX gonadal dysgenesis skos:exactMatch DOID:14450 46 XX gonadal dysgenesis semapv:UnspecifiedMatching MONDO:0009299 46 XX gonadal dysgenesis skos:exactMatch MEDGEN:146899 semapv:UnspecifiedMatching MONDO:0009299 46 XX gonadal dysgenesis skos:exactMatch NCIT:C120197 46,XX Gonadal Dysgenesis semapv:UnspecifiedMatching MONDO:0009299 46 XX gonadal dysgenesis skos:exactMatch OMIMPS:233300 Ovarian dysgenesis semapv:UnspecifiedMatching MONDO:0009299 46 XX gonadal dysgenesis skos:exactMatch Orphanet:243 46,XX gonadal dysgenesis semapv:UnspecifiedMatching MONDO:0009299 46 XX gonadal dysgenesis skos:exactMatch SCTID:95198001 semapv:UnspecifiedMatching MONDO:0009299 46 XX gonadal dysgenesis skos:exactMatch UMLS:C0685837 semapv:UnspecifiedMatching MONDO:0009299 46 XX gonadal dysgenesis skos:exactMatch icd11.foundation:1742528605 46,XX gonadal dysgenesis semapv:UnspecifiedMatching MONDO:0009299 46 XX gonadal dysgenesis skos:exactMatch mesh:D023961 semapv:UnspecifiedMatching MONDO:0009300 Perrault syndrome 1 skos:exactMatch MEDGEN:1640257 semapv:UnspecifiedMatching MONDO:0009300 Perrault syndrome 1 skos:exactMatch OMIM:233400 perrault syndrome 1 semapv:UnspecifiedMatching MONDO:0009300 Perrault syndrome 1 skos:exactMatch Orphanet:642945 Perrault syndrome type 1 semapv:UnspecifiedMatching MONDO:0009300 Perrault syndrome 1 skos:exactMatch UMLS:C4551721 semapv:UnspecifiedMatching MONDO:0009301 46,XY sex reversal 7 skos:exactMatch DOID:0111774 46,XY sex reversal 7 semapv:UnspecifiedMatching MONDO:0009301 46,XY sex reversal 7 skos:exactMatch MEDGEN:383876 semapv:UnspecifiedMatching MONDO:0009301 46,XY sex reversal 7 skos:exactMatch OMIM:233420 46,xy sex reversal 7 semapv:UnspecifiedMatching MONDO:0009301 46,XY sex reversal 7 skos:exactMatch UMLS:C1856273 semapv:UnspecifiedMatching MONDO:0009301 46,XY sex reversal 7 skos:exactMatch mesh:C565537 semapv:UnspecifiedMatching MONDO:0009302 XY type gonadal dysgenesis-associated anomalies syndrome skos:exactMatch MEDGEN:344696 semapv:UnspecifiedMatching MONDO:0009302 XY type gonadal dysgenesis-associated anomalies syndrome skos:exactMatch Orphanet:1770 XY type gonadal dysgenesis-associated anomalies syndrome semapv:UnspecifiedMatching MONDO:0009302 XY type gonadal dysgenesis-associated anomalies syndrome skos:exactMatch UMLS:C1856272 semapv:UnspecifiedMatching MONDO:0009302 XY type gonadal dysgenesis-associated anomalies syndrome skos:exactMatch mesh:C565536 semapv:UnspecifiedMatching MONDO:0009303 anti-glomerular basement membrane disease skos:exactMatch DOID:9808 Goodpasture syndrome semapv:UnspecifiedMatching MONDO:0009303 anti-glomerular basement membrane disease skos:exactMatch EFO:0007290 semapv:UnspecifiedMatching MONDO:0009303 anti-glomerular basement membrane disease skos:exactMatch MEDGEN:140788 semapv:UnspecifiedMatching MONDO:0009303 anti-glomerular basement membrane disease skos:exactMatch NCIT:C84566 Anti-Glomerular Basement Membrane Disease semapv:UnspecifiedMatching MONDO:0009303 anti-glomerular basement membrane disease skos:exactMatch OMIM:233450 goodpasture syndrome semapv:UnspecifiedMatching MONDO:0009303 anti-glomerular basement membrane disease skos:exactMatch Orphanet:375 Anti-glomerular basement membrane disease semapv:UnspecifiedMatching MONDO:0009303 anti-glomerular basement membrane disease skos:exactMatch SCTID:236432001 semapv:UnspecifiedMatching MONDO:0009303 anti-glomerular basement membrane disease skos:exactMatch UMLS:C0403529 semapv:UnspecifiedMatching MONDO:0009303 anti-glomerular basement membrane disease skos:exactMatch icd11.foundation:591736785 Anti-glomerular basement membrane antibody mediated disease semapv:UnspecifiedMatching MONDO:0009303 anti-glomerular basement membrane disease skos:exactMatch mesh:D019867 semapv:UnspecifiedMatching MONDO:0009305 granulocytopenia with immunoglobulin abnormality skos:exactMatch DOID:0111974 immunodeficiency 59 semapv:UnspecifiedMatching MONDO:0009305 granulocytopenia with immunoglobulin abnormality skos:exactMatch MEDGEN:383874 semapv:UnspecifiedMatching MONDO:0009305 granulocytopenia with immunoglobulin abnormality skos:exactMatch OMIM:233600 immunodeficiency 59 and hypoglycemia semapv:UnspecifiedMatching MONDO:0009305 granulocytopenia with immunoglobulin abnormality skos:exactMatch UMLS:C1856263 semapv:UnspecifiedMatching MONDO:0009305 granulocytopenia with immunoglobulin abnormality skos:exactMatch mesh:C565535 semapv:UnspecifiedMatching MONDO:0009306 combined immunodeficiency with skin granulomas skos:exactMatch DOID:0112253 combined cellular and humoral immune defects with granulomas semapv:UnspecifiedMatching MONDO:0009306 combined immunodeficiency with skin granulomas skos:exactMatch MEDGEN:435945 semapv:UnspecifiedMatching MONDO:0009306 combined immunodeficiency with skin granulomas skos:exactMatch OMIM:233650 combined cellular and humoral immune defects with granulomas semapv:UnspecifiedMatching MONDO:0009306 combined immunodeficiency with skin granulomas skos:exactMatch Orphanet:157949 Combined immunodeficiency with granulomatosis semapv:UnspecifiedMatching MONDO:0009306 combined immunodeficiency with skin granulomas skos:exactMatch UMLS:C2673536 semapv:UnspecifiedMatching MONDO:0009306 combined immunodeficiency with skin granulomas skos:exactMatch mesh:C567115 semapv:UnspecifiedMatching MONDO:0009307 granulomatous disease with defect in neutrophil chemotaxis skos:exactMatch MEDGEN:383873 semapv:UnspecifiedMatching MONDO:0009307 granulomatous disease with defect in neutrophil chemotaxis skos:exactMatch UMLS:C1856261 semapv:UnspecifiedMatching MONDO:0009307 granulomatous disease with defect in neutrophil chemotaxis skos:exactMatch mesh:C565534 semapv:UnspecifiedMatching MONDO:0009308 granulomatous disease, chronic, autosomal recessive, cytochrome b-negative skos:exactMatch DOID:0070193 autosomal recessive chronic granulomatous disease 4 semapv:UnspecifiedMatching MONDO:0009308 granulomatous disease, chronic, autosomal recessive, cytochrome b-negative skos:exactMatch MEDGEN:383872 semapv:UnspecifiedMatching MONDO:0009308 granulomatous disease, chronic, autosomal recessive, cytochrome b-negative skos:exactMatch OMIM:233690 granulomatous disease, chronic, autosomal recessive, 4 semapv:UnspecifiedMatching MONDO:0009308 granulomatous disease, chronic, autosomal recessive, cytochrome b-negative skos:exactMatch UMLS:C1856255 semapv:UnspecifiedMatching MONDO:0009308 granulomatous disease, chronic, autosomal recessive, cytochrome b-negative skos:exactMatch mesh:C565533 semapv:UnspecifiedMatching MONDO:0009309 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 skos:exactMatch DOID:0070192 autosomal recessive chronic granulomatous disease 1 semapv:UnspecifiedMatching MONDO:0009309 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 skos:exactMatch MEDGEN:341102 semapv:UnspecifiedMatching MONDO:0009309 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 skos:exactMatch OMIM:233700 granulomatous disease, chronic, autosomal recessive, 1 semapv:UnspecifiedMatching MONDO:0009309 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 skos:exactMatch UMLS:C1856251 semapv:UnspecifiedMatching MONDO:0009309 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 skos:exactMatch mesh:C565532 semapv:UnspecifiedMatching MONDO:0009310 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 skos:exactMatch DOID:0070191 autosomal recessive chronic granulomatous disease 2 semapv:UnspecifiedMatching MONDO:0009310 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 skos:exactMatch MEDGEN:383869 semapv:UnspecifiedMatching MONDO:0009310 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 skos:exactMatch OMIM:233710 granulomatous disease, chronic, autosomal recessive, 2 semapv:UnspecifiedMatching MONDO:0009310 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 skos:exactMatch UMLS:C1856245 semapv:UnspecifiedMatching MONDO:0009310 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 skos:exactMatch mesh:C565531 semapv:UnspecifiedMatching MONDO:0009311 grouped pigmentation of the retina skos:exactMatch MEDGEN:341100 semapv:UnspecifiedMatching MONDO:0009311 grouped pigmentation of the retina skos:exactMatch OMIM:233800 grouped pigmentation of the retina semapv:UnspecifiedMatching MONDO:0009311 grouped pigmentation of the retina skos:exactMatch UMLS:C1856244 semapv:UnspecifiedMatching MONDO:0009311 grouped pigmentation of the retina skos:exactMatch mesh:C565530 semapv:UnspecifiedMatching MONDO:0009312 lipodystrophy due to peptidic growth factors deficiency skos:exactMatch MEDGEN:419375 semapv:UnspecifiedMatching MONDO:0009312 lipodystrophy due to peptidic growth factors deficiency skos:exactMatch OMIM:233805 growth factors, combined defect of semapv:UnspecifiedMatching MONDO:0009312 lipodystrophy due to peptidic growth factors deficiency skos:exactMatch Orphanet:1979 Lipodystrophy due to peptidic growth factors deficiency semapv:UnspecifiedMatching MONDO:0009312 lipodystrophy due to peptidic growth factors deficiency skos:exactMatch SCTID:724176001 semapv:UnspecifiedMatching MONDO:0009312 lipodystrophy due to peptidic growth factors deficiency skos:exactMatch UMLS:C2931279 semapv:UnspecifiedMatching MONDO:0009312 lipodystrophy due to peptidic growth factors deficiency skos:exactMatch icd11.foundation:1235390174 Lipodystrophy due to peptidic growth factors deficiency semapv:UnspecifiedMatching MONDO:0009312 lipodystrophy due to peptidic growth factors deficiency skos:exactMatch mesh:C565529 semapv:UnspecifiedMatching MONDO:0009313 Grubben-de Cock-Borghgraef syndrome skos:exactMatch MEDGEN:419108 semapv:UnspecifiedMatching MONDO:0009313 Grubben-de Cock-Borghgraef syndrome skos:exactMatch OMIM:233810 growth retardation, small and puffy hands and feet, and eczema semapv:UnspecifiedMatching MONDO:0009313 Grubben-de Cock-Borghgraef syndrome skos:exactMatch Orphanet:2101 Grubben-de Cock-Borghgraef syndrome semapv:UnspecifiedMatching MONDO:0009313 Grubben-de Cock-Borghgraef syndrome skos:exactMatch UMLS:C2931551 semapv:UnspecifiedMatching MONDO:0009313 Grubben-de Cock-Borghgraef syndrome skos:exactMatch mesh:C537621 semapv:UnspecifiedMatching MONDO:0009315 congenital factor XII deficiency skos:exactMatch DOID:2231 factor XII deficiency semapv:UnspecifiedMatching MONDO:0009315 congenital factor XII deficiency skos:exactMatch MEDGEN:8772 semapv:UnspecifiedMatching MONDO:0009315 congenital factor XII deficiency skos:exactMatch NCIT:C131740 Factor XII Deficiency semapv:UnspecifiedMatching MONDO:0009315 congenital factor XII deficiency skos:exactMatch OMIM:234000 factor 12 deficiency semapv:UnspecifiedMatching MONDO:0009315 congenital factor XII deficiency skos:exactMatch Orphanet:330 Congenital factor XII deficiency semapv:UnspecifiedMatching MONDO:0009315 congenital factor XII deficiency skos:exactMatch SCTID:46981006 semapv:UnspecifiedMatching MONDO:0009315 congenital factor XII deficiency skos:exactMatch UMLS:C0015526 semapv:UnspecifiedMatching MONDO:0009315 congenital factor XII deficiency skos:exactMatch mesh:D005175 semapv:UnspecifiedMatching MONDO:0009317 obsolete nonphotosensitive trichothiodystrophy skos:exactMatch DOID:0111867 nonphotosensitive trichothiodystrophy semapv:UnspecifiedMatching MONDO:0009317 obsolete nonphotosensitive trichothiodystrophy skos:exactMatch Orphanet:1245 BIDS syndrome semapv:UnspecifiedMatching MONDO:0009318 Hallermann-Streiff syndrome skos:exactMatch DOID:4534 Hallermann-Streiff syndrome semapv:UnspecifiedMatching MONDO:0009318 Hallermann-Streiff syndrome skos:exactMatch MEDGEN:5414 semapv:UnspecifiedMatching MONDO:0009318 Hallermann-Streiff syndrome skos:exactMatch NCIT:C84746 Hallermann Syndrome semapv:UnspecifiedMatching MONDO:0009318 Hallermann-Streiff syndrome skos:exactMatch OMIM:234100 hallermann-streiff syndrome semapv:UnspecifiedMatching MONDO:0009318 Hallermann-Streiff syndrome skos:exactMatch Orphanet:2108 Hallermann-Streiff syndrome semapv:UnspecifiedMatching MONDO:0009318 Hallermann-Streiff syndrome skos:exactMatch SCTID:7903009 semapv:UnspecifiedMatching MONDO:0009318 Hallermann-Streiff syndrome skos:exactMatch UMLS:C0018522 semapv:UnspecifiedMatching MONDO:0009318 Hallermann-Streiff syndrome skos:exactMatch mesh:D006210 semapv:UnspecifiedMatching MONDO:0009319 pantothenate kinase-associated neurodegeneration skos:exactMatch DOID:3981 pantothenate kinase-associated neurodegeneration semapv:UnspecifiedMatching MONDO:0009319 pantothenate kinase-associated neurodegeneration skos:exactMatch ICD10CM:G23.0 Hallervorden-Spatz disease semapv:UnspecifiedMatching MONDO:0009319 pantothenate kinase-associated neurodegeneration skos:exactMatch MEDGEN:6708 semapv:UnspecifiedMatching MONDO:0009319 pantothenate kinase-associated neurodegeneration skos:exactMatch OMIM:234200 neurodegeneration with brain iron accumulation 1 semapv:UnspecifiedMatching MONDO:0009319 pantothenate kinase-associated neurodegeneration skos:exactMatch Orphanet:157850 Pantothenate kinase-associated neurodegeneration semapv:UnspecifiedMatching MONDO:0009319 pantothenate kinase-associated neurodegeneration skos:exactMatch SCTID:2992000 semapv:UnspecifiedMatching MONDO:0009319 pantothenate kinase-associated neurodegeneration skos:exactMatch UMLS:C0018523 semapv:UnspecifiedMatching MONDO:0009319 pantothenate kinase-associated neurodegeneration skos:exactMatch mesh:D006211 semapv:UnspecifiedMatching MONDO:0009320 Hall-Riggs syndrome skos:exactMatch MEDGEN:341089 semapv:UnspecifiedMatching MONDO:0009320 Hall-Riggs syndrome skos:exactMatch OMIM:234250 hall-riggs syndrome semapv:UnspecifiedMatching MONDO:0009320 Hall-Riggs syndrome skos:exactMatch Orphanet:2107 Hall-Riggs syndrome semapv:UnspecifiedMatching MONDO:0009320 Hall-Riggs syndrome skos:exactMatch SCTID:721008000 semapv:UnspecifiedMatching MONDO:0009320 Hall-Riggs syndrome skos:exactMatch UMLS:C1856198 semapv:UnspecifiedMatching MONDO:0009320 Hall-Riggs syndrome skos:exactMatch mesh:C535623 semapv:UnspecifiedMatching MONDO:0009321 hallux varus-preaxial polysyndactyly syndrome skos:exactMatch MEDGEN:341088 semapv:UnspecifiedMatching MONDO:0009321 hallux varus-preaxial polysyndactyly syndrome skos:exactMatch OMIM:234280 hallux varus and preaxial polysyndactyly semapv:UnspecifiedMatching MONDO:0009321 hallux varus-preaxial polysyndactyly syndrome skos:exactMatch Orphanet:2110 Hallux varus-preaxial polysyndactyly syndrome semapv:UnspecifiedMatching MONDO:0009321 hallux varus-preaxial polysyndactyly syndrome skos:exactMatch UMLS:C1856197 semapv:UnspecifiedMatching MONDO:0009321 hallux varus-preaxial polysyndactyly syndrome skos:exactMatch mesh:C536885 semapv:UnspecifiedMatching MONDO:0009322 obsolete halo nevi skos:exactMatch OMIM:234300 halo nevi semapv:UnspecifiedMatching MONDO:0009323 Halothane hepatitis skos:exactMatch MEDGEN:66842 semapv:UnspecifiedMatching MONDO:0009323 Halothane hepatitis skos:exactMatch OMIM:234350 halothane hepatitis semapv:UnspecifiedMatching MONDO:0009323 Halothane hepatitis skos:exactMatch SCTID:235873001 semapv:UnspecifiedMatching MONDO:0009323 Halothane hepatitis skos:exactMatch UMLS:C0241913 semapv:UnspecifiedMatching MONDO:0009323 Halothane hepatitis skos:exactMatch mesh:C562477 semapv:UnspecifiedMatching MONDO:0009324 Hartnup disease skos:exactMatch DOID:1060 Hartnup disease semapv:UnspecifiedMatching MONDO:0009324 Hartnup disease skos:exactMatch MEDGEN:6723 semapv:UnspecifiedMatching MONDO:0009324 Hartnup disease skos:exactMatch NCIT:C84748 Hartnup Disease semapv:UnspecifiedMatching MONDO:0009324 Hartnup disease skos:exactMatch OMIM:234500 hartnup disorder semapv:UnspecifiedMatching MONDO:0009324 Hartnup disease skos:exactMatch Orphanet:2116 Hartnup disease semapv:UnspecifiedMatching MONDO:0009324 Hartnup disease skos:exactMatch SCTID:80902009 semapv:UnspecifiedMatching MONDO:0009324 Hartnup disease skos:exactMatch UMLS:C0018609 semapv:UnspecifiedMatching MONDO:0009324 Hartnup disease skos:exactMatch mesh:D006250 semapv:UnspecifiedMatching MONDO:0009326 congenital heart block skos:exactMatch DOID:990 congenital heart block semapv:UnspecifiedMatching MONDO:0009326 congenital heart block skos:exactMatch ICD10CM:Q24.6 Congenital heart block semapv:UnspecifiedMatching MONDO:0009326 congenital heart block skos:exactMatch MEDGEN:57432 semapv:UnspecifiedMatching MONDO:0009326 congenital heart block skos:exactMatch OMIM:234700 heart block, congenital semapv:UnspecifiedMatching MONDO:0009326 congenital heart block skos:exactMatch Orphanet:60041 Congenital heart block semapv:UnspecifiedMatching MONDO:0009326 congenital heart block skos:exactMatch SCTID:46619002 semapv:UnspecifiedMatching MONDO:0009326 congenital heart block skos:exactMatch UMLS:C0149530 semapv:UnspecifiedMatching MONDO:0009326 congenital heart block skos:exactMatch icd11.foundation:1096954866 Congenital heart block semapv:UnspecifiedMatching MONDO:0009326 congenital heart block skos:exactMatch mesh:C535758 semapv:UnspecifiedMatching MONDO:0009327 obsolete heart, malformation of skos:exactMatch MEDGEN:6748 semapv:UnspecifiedMatching MONDO:0009327 obsolete heart, malformation of skos:exactMatch OMIM:140500 semapv:UnspecifiedMatching MONDO:0009327 obsolete heart, malformation of skos:exactMatch OMIM:234750 semapv:UnspecifiedMatching MONDO:0009327 obsolete heart, malformation of skos:exactMatch UMLS:C0018798 semapv:UnspecifiedMatching MONDO:0009328 hemangiomatosis, cutaneous, with associated features skos:exactMatch MEDGEN:67397 semapv:UnspecifiedMatching MONDO:0009328 hemangiomatosis, cutaneous, with associated features skos:exactMatch OMIM:234800 hemangiomatosis, cutaneous, with associated features semapv:UnspecifiedMatching MONDO:0009328 hemangiomatosis, cutaneous, with associated features skos:exactMatch UMLS:C0220738 semapv:UnspecifiedMatching MONDO:0009328 hemangiomatosis, cutaneous, with associated features skos:exactMatch mesh:C562438 semapv:UnspecifiedMatching MONDO:0009329 pulmonary venoocclusive disease 2 skos:exactMatch DOID:0081269 pulmonary venoocclusive disease 2 semapv:UnspecifiedMatching MONDO:0009329 pulmonary venoocclusive disease 2 skos:exactMatch MEDGEN:90956 semapv:UnspecifiedMatching MONDO:0009329 pulmonary venoocclusive disease 2 skos:exactMatch OMIM:234810 pulmonary venoocclusive disease 2, autosomal recessive semapv:UnspecifiedMatching MONDO:0009329 pulmonary venoocclusive disease 2 skos:exactMatch Orphanet:199241 Pulmonary capillary hemangiomatosis semapv:UnspecifiedMatching MONDO:0009329 pulmonary venoocclusive disease 2 skos:exactMatch SCTID:233949008 semapv:UnspecifiedMatching MONDO:0009329 pulmonary venoocclusive disease 2 skos:exactMatch UMLS:C0340848 semapv:UnspecifiedMatching MONDO:0009329 pulmonary venoocclusive disease 2 skos:exactMatch mesh:C535861 semapv:UnspecifiedMatching MONDO:0009330 hemangiopericytoma, malignant skos:exactMatch MEDGEN:90803 semapv:UnspecifiedMatching MONDO:0009330 hemangiopericytoma, malignant skos:exactMatch NCIT:C4301 Malignant Hemangiopericytoma semapv:UnspecifiedMatching MONDO:0009330 hemangiopericytoma, malignant skos:exactMatch OMIM:234820 hemangiopericytoma, malignant semapv:UnspecifiedMatching MONDO:0009330 hemangiopericytoma, malignant skos:exactMatch UMLS:C0334542 semapv:UnspecifiedMatching MONDO:0009330 hemangiopericytoma, malignant skos:exactMatch mesh:C562740 semapv:UnspecifiedMatching MONDO:0009331 isolated hemihyperplasia skos:exactMatch MEDGEN:383853 semapv:UnspecifiedMatching MONDO:0009331 isolated hemihyperplasia skos:exactMatch OMIM:235000 hemihyperplasia, isolated semapv:UnspecifiedMatching MONDO:0009331 isolated hemihyperplasia skos:exactMatch Orphanet:2128 Isolated hemihyperplasia semapv:UnspecifiedMatching MONDO:0009331 isolated hemihyperplasia skos:exactMatch UMLS:C1856184 semapv:UnspecifiedMatching MONDO:0009331 isolated hemihyperplasia skos:exactMatch mesh:C565524 semapv:UnspecifiedMatching MONDO:0009332 congenital hematological disorder skos:exactMatch MEDGEN:760584 semapv:UnspecifiedMatching MONDO:0009332 congenital hematological disorder skos:exactMatch NCIT:C104003 Congenital Hematological Disorder semapv:UnspecifiedMatching MONDO:0009332 congenital hematological disorder skos:exactMatch UMLS:C3267032 semapv:UnspecifiedMatching MONDO:0009333 mullerian derivatives-lymphangiectasia-polydactyly syndrome skos:exactMatch MEDGEN:343489 semapv:UnspecifiedMatching MONDO:0009333 mullerian derivatives-lymphangiectasia-polydactyly syndrome skos:exactMatch OMIM:235255 mullerian derivatives, persistence of, with lymphangiectasia and postaxial polydactyly semapv:UnspecifiedMatching MONDO:0009333 mullerian derivatives-lymphangiectasia-polydactyly syndrome skos:exactMatch Orphanet:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome semapv:UnspecifiedMatching MONDO:0009333 mullerian derivatives-lymphangiectasia-polydactyly syndrome skos:exactMatch UMLS:C1856159 semapv:UnspecifiedMatching MONDO:0009333 mullerian derivatives-lymphangiectasia-polydactyly syndrome skos:exactMatch mesh:C536478 semapv:UnspecifiedMatching MONDO:0009334 hemolytic anemia with thermal sensitivity of red cells skos:exactMatch MEDGEN:343488 semapv:UnspecifiedMatching MONDO:0009334 hemolytic anemia with thermal sensitivity of red cells skos:exactMatch OMIM:235370 hemolytic anemia with thermal sensitivity of red cells semapv:UnspecifiedMatching MONDO:0009334 hemolytic anemia with thermal sensitivity of red cells skos:exactMatch UMLS:C1856158 semapv:UnspecifiedMatching MONDO:0009334 hemolytic anemia with thermal sensitivity of red cells skos:exactMatch mesh:C565522 semapv:UnspecifiedMatching MONDO:0009335 hemolytic uremic syndrome, atypical, susceptibility to, 1 skos:exactMatch MEDGEN:412743 semapv:UnspecifiedMatching MONDO:0009335 hemolytic uremic syndrome, atypical, susceptibility to, 1 skos:exactMatch OMIM:235400 hemolytic uremic syndrome, atypical, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0009335 hemolytic uremic syndrome, atypical, susceptibility to, 1 skos:exactMatch UMLS:C2749604 semapv:UnspecifiedMatching MONDO:0009336 hemosiderosis, pulmonary, with deficiency of gamma-a globulin skos:exactMatch OMIM:235500 hemosiderosis, pulmonary, with deficiency of gamma-a globulin semapv:UnspecifiedMatching MONDO:0009337 Hennekam lymphangiectasia-lymphedema syndrome 1 skos:exactMatch MEDGEN:860487 semapv:UnspecifiedMatching MONDO:0009337 Hennekam lymphangiectasia-lymphedema syndrome 1 skos:exactMatch OMIM:235510 hennekam lymphangiectasia-lymphedema syndrome 1 semapv:UnspecifiedMatching MONDO:0009337 Hennekam lymphangiectasia-lymphedema syndrome 1 skos:exactMatch UMLS:C4012050 semapv:UnspecifiedMatching MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome skos:exactMatch DOID:0112254 hepatic venoocclusive disease with immunodeficiency semapv:UnspecifiedMatching MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome skos:exactMatch MEDGEN:344659 semapv:UnspecifiedMatching MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome skos:exactMatch OMIM:235550 hepatic venoocclusive disease with immunodeficiency semapv:UnspecifiedMatching MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome skos:exactMatch Orphanet:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome semapv:UnspecifiedMatching MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome skos:exactMatch SCTID:724361001 semapv:UnspecifiedMatching MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome skos:exactMatch UMLS:C1856128 semapv:UnspecifiedMatching MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome skos:exactMatch icd11.foundation:712514250 Hepatic veno-occlusive disease - immunodeficiency syndrome semapv:UnspecifiedMatching MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome skos:exactMatch mesh:C537257 semapv:UnspecifiedMatching MONDO:0009339 congenital bile acid synthesis defect 2 skos:exactMatch DOID:0111069 congenital bile acid synthesis defect 2 semapv:UnspecifiedMatching MONDO:0009339 congenital bile acid synthesis defect 2 skos:exactMatch MEDGEN:383840 semapv:UnspecifiedMatching MONDO:0009339 congenital bile acid synthesis defect 2 skos:exactMatch OMIM:235555 bile acid synthesis defect, congenital, 2 semapv:UnspecifiedMatching MONDO:0009339 congenital bile acid synthesis defect 2 skos:exactMatch Orphanet:79303 Congenital bile acid synthesis defect type 2 semapv:UnspecifiedMatching MONDO:0009339 congenital bile acid synthesis defect 2 skos:exactMatch UMLS:C1856127 semapv:UnspecifiedMatching MONDO:0009339 congenital bile acid synthesis defect 2 skos:exactMatch mesh:C535443 semapv:UnspecifiedMatching MONDO:0009340 non-spherocytic hemolytic anemia due to hexokinase deficiency skos:exactMatch DOID:0051006 congenital nonspherocytic hemolytic anemia 5 semapv:UnspecifiedMatching MONDO:0009340 non-spherocytic hemolytic anemia due to hexokinase deficiency skos:exactMatch MEDGEN:461693 semapv:UnspecifiedMatching MONDO:0009340 non-spherocytic hemolytic anemia due to hexokinase deficiency skos:exactMatch OMIM:235700 anemia, congenital, nonspherocytic hemolytic, 5 semapv:UnspecifiedMatching MONDO:0009340 non-spherocytic hemolytic anemia due to hexokinase deficiency skos:exactMatch Orphanet:90031 Non-spherocytic hemolytic anemia due to hexokinase deficiency semapv:UnspecifiedMatching MONDO:0009340 non-spherocytic hemolytic anemia due to hexokinase deficiency skos:exactMatch UMLS:C3150343 semapv:UnspecifiedMatching MONDO:0009340 non-spherocytic hemolytic anemia due to hexokinase deficiency skos:exactMatch mesh:C562995 semapv:UnspecifiedMatching MONDO:0009341 Mowat-Wilson syndrome skos:exactMatch DOID:0060485 Mowat-Wilson syndrome semapv:UnspecifiedMatching MONDO:0009341 Mowat-Wilson syndrome skos:exactMatch MEDGEN:341067 semapv:UnspecifiedMatching MONDO:0009341 Mowat-Wilson syndrome skos:exactMatch NCIT:C74999 Mowat-Wilson Syndrome semapv:UnspecifiedMatching MONDO:0009341 Mowat-Wilson syndrome skos:exactMatch OMIM:235730 mowat-wilson syndrome semapv:UnspecifiedMatching MONDO:0009341 Mowat-Wilson syndrome skos:exactMatch Orphanet:2152 Mowat-Wilson syndrome semapv:UnspecifiedMatching MONDO:0009341 Mowat-Wilson syndrome skos:exactMatch SCTID:703535000 semapv:UnspecifiedMatching MONDO:0009341 Mowat-Wilson syndrome skos:exactMatch UMLS:C1856113 semapv:UnspecifiedMatching MONDO:0009341 Mowat-Wilson syndrome skos:exactMatch icd11.foundation:1985672762 Mowat-Wilson syndrome semapv:UnspecifiedMatching MONDO:0009341 Mowat-Wilson syndrome skos:exactMatch mesh:C536990 semapv:UnspecifiedMatching MONDO:0009342 Hirschsprung disease-hearing loss-polydactyly syndrome skos:exactMatch MEDGEN:341066 semapv:UnspecifiedMatching MONDO:0009342 Hirschsprung disease-hearing loss-polydactyly syndrome skos:exactMatch OMIM:235740 hirschsprung disease with polydactyly, renal agenesis, and deafness semapv:UnspecifiedMatching MONDO:0009342 Hirschsprung disease-hearing loss-polydactyly syndrome skos:exactMatch Orphanet:2155 Hirschsprung disease-deafness-polydactyly syndrome semapv:UnspecifiedMatching MONDO:0009342 Hirschsprung disease-hearing loss-polydactyly syndrome skos:exactMatch SCTID:721221000 semapv:UnspecifiedMatching MONDO:0009342 Hirschsprung disease-hearing loss-polydactyly syndrome skos:exactMatch UMLS:C1856112 semapv:UnspecifiedMatching MONDO:0009342 Hirschsprung disease-hearing loss-polydactyly syndrome skos:exactMatch mesh:C565518 semapv:UnspecifiedMatching MONDO:0009343 Hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect skos:exactMatch MEDGEN:341065 semapv:UnspecifiedMatching MONDO:0009343 Hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect skos:exactMatch OMIM:235750 hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect semapv:UnspecifiedMatching MONDO:0009343 Hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect skos:exactMatch UMLS:C1856111 semapv:UnspecifiedMatching MONDO:0009343 Hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect skos:exactMatch mesh:C538120 semapv:UnspecifiedMatching MONDO:0009343 Hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect skos:exactMatch mesh:C565517 semapv:UnspecifiedMatching MONDO:0009344 Hirschsprung disease-nail hypoplasia-dysmorphism syndrome skos:exactMatch MEDGEN:344653 semapv:UnspecifiedMatching MONDO:0009344 Hirschsprung disease-nail hypoplasia-dysmorphism syndrome skos:exactMatch OMIM:235760 hirschsprung disease with hypoplastic nails and dysmorphic facial features semapv:UnspecifiedMatching MONDO:0009344 Hirschsprung disease-nail hypoplasia-dysmorphism syndrome skos:exactMatch Orphanet:2153 Hirschsprung disease-nail hypoplasia-dysmorphism syndrome semapv:UnspecifiedMatching MONDO:0009344 Hirschsprung disease-nail hypoplasia-dysmorphism syndrome skos:exactMatch SCTID:721223002 semapv:UnspecifiedMatching MONDO:0009344 Hirschsprung disease-nail hypoplasia-dysmorphism syndrome skos:exactMatch UMLS:C1856110 semapv:UnspecifiedMatching MONDO:0009344 Hirschsprung disease-nail hypoplasia-dysmorphism syndrome skos:exactMatch mesh:C535615 semapv:UnspecifiedMatching MONDO:0009345 histidinemia skos:exactMatch DOID:0060168 histidinemia semapv:UnspecifiedMatching MONDO:0009345 histidinemia skos:exactMatch ICD10CM:E70.41 Histidinemia semapv:UnspecifiedMatching MONDO:0009345 histidinemia skos:exactMatch MEDGEN:113135 semapv:UnspecifiedMatching MONDO:0009345 histidinemia skos:exactMatch OMIM:235800 histidinemia semapv:UnspecifiedMatching MONDO:0009345 histidinemia skos:exactMatch Orphanet:2157 Histidinemia semapv:UnspecifiedMatching MONDO:0009345 histidinemia skos:exactMatch SCTID:410058007 semapv:UnspecifiedMatching MONDO:0009345 histidinemia skos:exactMatch UMLS:C0220992 semapv:UnspecifiedMatching MONDO:0009345 histidinemia skos:exactMatch icd11.foundation:261052955 Histidinaemia semapv:UnspecifiedMatching MONDO:0009345 histidinemia skos:exactMatch mesh:C538320 semapv:UnspecifiedMatching MONDO:0009346 histidinuria due to a renal tubular defect skos:exactMatch MEDGEN:82825 semapv:UnspecifiedMatching MONDO:0009346 histidinuria due to a renal tubular defect skos:exactMatch OMIM:235830 histidinuria due to a renal tubular defect semapv:UnspecifiedMatching MONDO:0009346 histidinuria due to a renal tubular defect skos:exactMatch Orphanet:2158 Histidinuria-renal tubular defect syndrome semapv:UnspecifiedMatching MONDO:0009346 histidinuria due to a renal tubular defect skos:exactMatch UMLS:C0268642 semapv:UnspecifiedMatching MONDO:0009346 histidinuria due to a renal tubular defect skos:exactMatch mesh:C538321 semapv:UnspecifiedMatching MONDO:0009347 familial lipochrome histiocytosis skos:exactMatch MEDGEN:90743 semapv:UnspecifiedMatching MONDO:0009347 familial lipochrome histiocytosis skos:exactMatch OMIM:235900 histiocytosis, familial lipochrome semapv:UnspecifiedMatching MONDO:0009347 familial lipochrome histiocytosis skos:exactMatch SCTID:234577004 semapv:UnspecifiedMatching MONDO:0009347 familial lipochrome histiocytosis skos:exactMatch UMLS:C0334125 semapv:UnspecifiedMatching MONDO:0009347 familial lipochrome histiocytosis skos:exactMatch mesh:C562738 semapv:UnspecifiedMatching MONDO:0009348 classic Hodgkin lymphoma skos:exactMatch MEDGEN:9283 semapv:UnspecifiedMatching MONDO:0009348 classic Hodgkin lymphoma skos:exactMatch NCIT:C7164 Classic Hodgkin Lymphoma semapv:UnspecifiedMatching MONDO:0009348 classic Hodgkin lymphoma skos:exactMatch OMIM:236000 lymphoma, hodgkin, classic semapv:UnspecifiedMatching MONDO:0009348 classic Hodgkin lymphoma skos:exactMatch Orphanet:391 Classic Hodgkin lymphoma semapv:UnspecifiedMatching MONDO:0009348 classic Hodgkin lymphoma skos:exactMatch UMLS:C0019829 semapv:UnspecifiedMatching MONDO:0009348 classic Hodgkin lymphoma skos:exactMatch icd11.foundation:1616050398 Classical Hodgkin lymphoma semapv:UnspecifiedMatching MONDO:0009349 holoprosencephaly 1 skos:exactMatch DOID:0110881 holoprosencephaly 1 semapv:UnspecifiedMatching MONDO:0009349 holoprosencephaly 1 skos:exactMatch MEDGEN:78617 semapv:UnspecifiedMatching MONDO:0009349 holoprosencephaly 1 skos:exactMatch NCIT:C75476 Holoprosencephaly Type 1 semapv:UnspecifiedMatching MONDO:0009349 holoprosencephaly 1 skos:exactMatch OMIM:236100 holoprosencephaly 1 semapv:UnspecifiedMatching MONDO:0009349 holoprosencephaly 1 skos:exactMatch UMLS:C0266667 semapv:UnspecifiedMatching MONDO:0009350 Holzgreve-Wagner-Rehder syndrome skos:exactMatch DOID:0060566 Holzgreve-Wagner-Rehder Syndrome semapv:UnspecifiedMatching MONDO:0009350 Holzgreve-Wagner-Rehder syndrome skos:exactMatch MEDGEN:344650 semapv:UnspecifiedMatching MONDO:0009350 Holzgreve-Wagner-Rehder syndrome skos:exactMatch OMIM:236110 holzgreve syndrome semapv:UnspecifiedMatching MONDO:0009350 Holzgreve-Wagner-Rehder syndrome skos:exactMatch Orphanet:2167 Holzgreve syndrome semapv:UnspecifiedMatching MONDO:0009350 Holzgreve-Wagner-Rehder syndrome skos:exactMatch UMLS:C1856095 semapv:UnspecifiedMatching MONDO:0009350 Holzgreve-Wagner-Rehder syndrome skos:exactMatch mesh:C535327 semapv:UnspecifiedMatching MONDO:0009351 homocarnosinosis skos:exactMatch DOID:0060177 homocarnosinosis semapv:UnspecifiedMatching MONDO:0009351 homocarnosinosis skos:exactMatch MEDGEN:75703 semapv:UnspecifiedMatching MONDO:0009351 homocarnosinosis skos:exactMatch OMIM:236130 homocarnosinosis semapv:UnspecifiedMatching MONDO:0009351 homocarnosinosis skos:exactMatch SCTID:61764000 semapv:UnspecifiedMatching MONDO:0009351 homocarnosinosis skos:exactMatch UMLS:C0268632 semapv:UnspecifiedMatching MONDO:0009351 homocarnosinosis skos:exactMatch icd11.foundation:166229372 Homocarnosinosis semapv:UnspecifiedMatching MONDO:0009351 homocarnosinosis skos:exactMatch mesh:C535328 semapv:UnspecifiedMatching MONDO:0009352 classic homocystinuria skos:exactMatch MEDGEN:199606 semapv:UnspecifiedMatching MONDO:0009352 classic homocystinuria skos:exactMatch OMIM:236200 homocystinuria due to cystathionine beta-synthase deficiency semapv:UnspecifiedMatching MONDO:0009352 classic homocystinuria skos:exactMatch Orphanet:394 Homocystinuria due to cystathionine beta-synthase deficiency semapv:UnspecifiedMatching MONDO:0009352 classic homocystinuria skos:exactMatch SCTID:24308003 semapv:UnspecifiedMatching MONDO:0009352 classic homocystinuria skos:exactMatch UMLS:C0751202 semapv:UnspecifiedMatching MONDO:0009353 homocystinuria due to methylene tetrahydrofolate reductase deficiency skos:exactMatch MEDGEN:343470 semapv:UnspecifiedMatching MONDO:0009353 homocystinuria due to methylene tetrahydrofolate reductase deficiency skos:exactMatch OMIM:236250 homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolate reductase activity semapv:UnspecifiedMatching MONDO:0009353 homocystinuria due to methylene tetrahydrofolate reductase deficiency skos:exactMatch Orphanet:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency semapv:UnspecifiedMatching MONDO:0009353 homocystinuria due to methylene tetrahydrofolate reductase deficiency skos:exactMatch SCTID:41797007 semapv:UnspecifiedMatching MONDO:0009353 homocystinuria due to methylene tetrahydrofolate reductase deficiency skos:exactMatch UMLS:C1856061 semapv:UnspecifiedMatching MONDO:0009353 homocystinuria due to methylene tetrahydrofolate reductase deficiency skos:exactMatch mesh:C537357 semapv:UnspecifiedMatching MONDO:0009354 methylcobalamin deficiency type cblE skos:exactMatch DOID:0050732 methylmalonic aciduria and homocystinuria type cblE semapv:UnspecifiedMatching MONDO:0009354 methylcobalamin deficiency type cblE skos:exactMatch DOID:0112255 homocystinuria-megaloblastic anemia cblE type semapv:UnspecifiedMatching MONDO:0009354 methylcobalamin deficiency type cblE skos:exactMatch MEDGEN:344640 semapv:UnspecifiedMatching MONDO:0009354 methylcobalamin deficiency type cblE skos:exactMatch NCIT:C142173 Homocystinuria-Megaloblastic Anemia, cblE Complementation Type semapv:UnspecifiedMatching MONDO:0009354 methylcobalamin deficiency type cblE skos:exactMatch OMIM:236270 homocystinuria-megaloblastic anemia, cble type semapv:UnspecifiedMatching MONDO:0009354 methylcobalamin deficiency type cblE skos:exactMatch Orphanet:2169 Methylcobalamin deficiency type cblE semapv:UnspecifiedMatching MONDO:0009354 methylcobalamin deficiency type cblE skos:exactMatch UMLS:C1856057 semapv:UnspecifiedMatching MONDO:0009354 methylcobalamin deficiency type cblE skos:exactMatch mesh:C565510 semapv:UnspecifiedMatching MONDO:0009355 Hooft disease skos:exactMatch MEDGEN:75686 semapv:UnspecifiedMatching MONDO:0009355 Hooft disease skos:exactMatch OMIM:236300 hooft disease semapv:UnspecifiedMatching MONDO:0009355 Hooft disease skos:exactMatch UMLS:C0268479 semapv:UnspecifiedMatching MONDO:0009355 Hooft disease skos:exactMatch mesh:C535329 semapv:UnspecifiedMatching MONDO:0009356 autosomal recessive humeroradial synostosis skos:exactMatch MEDGEN:1875232 semapv:UnspecifiedMatching MONDO:0009356 autosomal recessive humeroradial synostosis skos:exactMatch OMIM:236400 humeroradial synostosis semapv:UnspecifiedMatching MONDO:0009356 autosomal recessive humeroradial synostosis skos:exactMatch UMLS:C5975703 semapv:UnspecifiedMatching MONDO:0009357 humeroradial synostosis with craniofacial anomalies skos:exactMatch MEDGEN:369834 semapv:UnspecifiedMatching MONDO:0009357 humeroradial synostosis with craniofacial anomalies skos:exactMatch OMIM:236410 humeroradial synostosis with craniofacial anomalies semapv:UnspecifiedMatching MONDO:0009357 humeroradial synostosis with craniofacial anomalies skos:exactMatch UMLS:C1968717 semapv:UnspecifiedMatching MONDO:0009357 humeroradial synostosis with craniofacial anomalies skos:exactMatch mesh:C566888 semapv:UnspecifiedMatching MONDO:0009358 Hutterite cerebroosteonephrodysplasia syndrome skos:exactMatch MEDGEN:343466 semapv:UnspecifiedMatching MONDO:0009358 Hutterite cerebroosteonephrodysplasia syndrome skos:exactMatch OMIM:236450 hutterite cerebroosteonephrodysplasia syndrome semapv:UnspecifiedMatching MONDO:0009358 Hutterite cerebroosteonephrodysplasia syndrome skos:exactMatch UMLS:C1856054 semapv:UnspecifiedMatching MONDO:0009358 Hutterite cerebroosteonephrodysplasia syndrome skos:exactMatch mesh:C536074 semapv:UnspecifiedMatching MONDO:0009359 multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome skos:exactMatch DOID:0080327 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly semapv:UnspecifiedMatching MONDO:0009359 multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome skos:exactMatch MEDGEN:343465 semapv:UnspecifiedMatching MONDO:0009359 multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome skos:exactMatch OMIM:236500 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly semapv:UnspecifiedMatching MONDO:0009359 multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome skos:exactMatch Orphanet:500135 Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome semapv:UnspecifiedMatching MONDO:0009359 multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome skos:exactMatch UMLS:C1856053 semapv:UnspecifiedMatching MONDO:0009359 multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome skos:exactMatch mesh:C565507 semapv:UnspecifiedMatching MONDO:0009360 hydrocephalus, nonsyndromic, autosomal recessive 1 skos:exactMatch MEDGEN:854455 semapv:UnspecifiedMatching MONDO:0009360 hydrocephalus, nonsyndromic, autosomal recessive 1 skos:exactMatch OMIM:236600 hydrocephalus, congenital, 1 semapv:UnspecifiedMatching MONDO:0009360 hydrocephalus, nonsyndromic, autosomal recessive 1 skos:exactMatch UMLS:C3887608 semapv:UnspecifiedMatching MONDO:0009361 autosomal recessive hydrocephalus due to congenital stenosis of aqueduct of Sylvius skos:exactMatch MEDGEN:608953 semapv:UnspecifiedMatching MONDO:0009361 autosomal recessive hydrocephalus due to congenital stenosis of aqueduct of Sylvius skos:exactMatch OMIM:236635 hydrocephalus due to congenital stenosis of aqueduct of sylvius semapv:UnspecifiedMatching MONDO:0009361 autosomal recessive hydrocephalus due to congenital stenosis of aqueduct of Sylvius skos:exactMatch UMLS:C0431355 semapv:UnspecifiedMatching MONDO:0009362 growth delay-hydrocephaly-lung hypoplasia syndrome skos:exactMatch MEDGEN:344639 semapv:UnspecifiedMatching MONDO:0009362 growth delay-hydrocephaly-lung hypoplasia syndrome skos:exactMatch OMIM:236640 hydrocephalus with associated malformations semapv:UnspecifiedMatching MONDO:0009362 growth delay-hydrocephaly-lung hypoplasia syndrome skos:exactMatch Orphanet:3035 Growth delay-hydrocephaly-lung hypoplasia syndrome semapv:UnspecifiedMatching MONDO:0009362 growth delay-hydrocephaly-lung hypoplasia syndrome skos:exactMatch SCTID:716198008 semapv:UnspecifiedMatching MONDO:0009362 growth delay-hydrocephaly-lung hypoplasia syndrome skos:exactMatch UMLS:C1856052 semapv:UnspecifiedMatching MONDO:0009362 growth delay-hydrocephaly-lung hypoplasia syndrome skos:exactMatch mesh:C535406 semapv:UnspecifiedMatching MONDO:0009363 hydrocephaly-tall stature-joint laxity syndrome skos:exactMatch MEDGEN:383828 semapv:UnspecifiedMatching MONDO:0009363 hydrocephaly-tall stature-joint laxity syndrome skos:exactMatch OMIM:236660 hydrocephalus, tall stature, joint laxity, and kyphoscoliosis semapv:UnspecifiedMatching MONDO:0009363 hydrocephaly-tall stature-joint laxity syndrome skos:exactMatch Orphanet:2181 Hydrocephaly-tall stature-joint laxity syndrome semapv:UnspecifiedMatching MONDO:0009363 hydrocephaly-tall stature-joint laxity syndrome skos:exactMatch SCTID:732926009 semapv:UnspecifiedMatching MONDO:0009363 hydrocephaly-tall stature-joint laxity syndrome skos:exactMatch UMLS:C1856051 semapv:UnspecifiedMatching MONDO:0009363 hydrocephaly-tall stature-joint laxity syndrome skos:exactMatch mesh:C535770 semapv:UnspecifiedMatching MONDO:0009364 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 skos:exactMatch DOID:0111237 congenital muscular dystrophy-dystroglycanopathy type A1 semapv:UnspecifiedMatching MONDO:0009364 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 skos:exactMatch MEDGEN:924974 semapv:UnspecifiedMatching MONDO:0009364 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 skos:exactMatch NCIT:C128118 Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1 semapv:UnspecifiedMatching MONDO:0009364 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 skos:exactMatch OMIM:236670 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 semapv:UnspecifiedMatching MONDO:0009364 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 skos:exactMatch UMLS:C4284790 semapv:UnspecifiedMatching MONDO:0009365 hydrolethalus syndrome 1 skos:exactMatch DOID:0111355 hydrolethalus syndrome 1 semapv:UnspecifiedMatching MONDO:0009365 hydrolethalus syndrome 1 skos:exactMatch MEDGEN:343455 semapv:UnspecifiedMatching MONDO:0009365 hydrolethalus syndrome 1 skos:exactMatch OMIM:236680 hydrolethalus syndrome 1 semapv:UnspecifiedMatching MONDO:0009365 hydrolethalus syndrome 1 skos:exactMatch UMLS:C1856016 semapv:UnspecifiedMatching MONDO:0009365 hydrolethalus syndrome 1 skos:exactMatch mesh:C565504 semapv:UnspecifiedMatching MONDO:0009366 normal pressure hydrocephalus skos:exactMatch DOID:1572 normal pressure hydrocephalus semapv:UnspecifiedMatching MONDO:0009366 normal pressure hydrocephalus skos:exactMatch EFO:1001065 semapv:UnspecifiedMatching MONDO:0009366 normal pressure hydrocephalus skos:exactMatch MEDGEN:42526 semapv:UnspecifiedMatching MONDO:0009366 normal pressure hydrocephalus skos:exactMatch OMIM:236690 hydrocephalus, normal-pressure, 1 semapv:UnspecifiedMatching MONDO:0009366 normal pressure hydrocephalus skos:exactMatch SCTID:30753002 semapv:UnspecifiedMatching MONDO:0009366 normal pressure hydrocephalus skos:exactMatch UMLS:C0020258 semapv:UnspecifiedMatching MONDO:0009366 normal pressure hydrocephalus skos:exactMatch mesh:D006850 semapv:UnspecifiedMatching MONDO:0009367 McKusick-Kaufman syndrome skos:exactMatch DOID:0111255 McKusick-Kaufman syndrome semapv:UnspecifiedMatching MONDO:0009367 McKusick-Kaufman syndrome skos:exactMatch MEDGEN:184924 semapv:UnspecifiedMatching MONDO:0009367 McKusick-Kaufman syndrome skos:exactMatch OMIM:236700 mckusick-kaufman syndrome semapv:UnspecifiedMatching MONDO:0009367 McKusick-Kaufman syndrome skos:exactMatch Orphanet:2473 McKusick-Kaufman syndrome semapv:UnspecifiedMatching MONDO:0009367 McKusick-Kaufman syndrome skos:exactMatch SCTID:702407009 semapv:UnspecifiedMatching MONDO:0009367 McKusick-Kaufman syndrome skos:exactMatch UMLS:C0948368 semapv:UnspecifiedMatching MONDO:0009367 McKusick-Kaufman syndrome skos:exactMatch mesh:C538159 semapv:UnspecifiedMatching MONDO:0009368 urofacial syndrome type 1 skos:exactMatch OMIM:236730 urofacial syndrome 1 semapv:UnspecifiedMatching MONDO:0009369 non-immune hydrops fetalis skos:exactMatch MEDGEN:105327 semapv:UnspecifiedMatching MONDO:0009369 non-immune hydrops fetalis skos:exactMatch NCIT:C111905 Non-Immune Hydrops Fetalis semapv:UnspecifiedMatching MONDO:0009369 non-immune hydrops fetalis skos:exactMatch OMIM:236750 hydrops fetalis, nonimmune semapv:UnspecifiedMatching MONDO:0009369 non-immune hydrops fetalis skos:exactMatch Orphanet:363999 Non-immune hydrops fetalis semapv:UnspecifiedMatching MONDO:0009369 non-immune hydrops fetalis skos:exactMatch SCTID:276509008 semapv:UnspecifiedMatching MONDO:0009369 non-immune hydrops fetalis skos:exactMatch UMLS:C0455988 semapv:UnspecifiedMatching MONDO:0009369 non-immune hydrops fetalis skos:exactMatch icd11.foundation:1182287637 Hydrops fetalis not due to haemolytic disease semapv:UnspecifiedMatching MONDO:0009370 L-2-hydroxyglutaric aciduria skos:exactMatch DOID:0050574 L-2-hydroxyglutaric aciduria semapv:UnspecifiedMatching MONDO:0009370 L-2-hydroxyglutaric aciduria skos:exactMatch MEDGEN:341029 semapv:UnspecifiedMatching MONDO:0009370 L-2-hydroxyglutaric aciduria skos:exactMatch OMIM:236792 l-2-hydroxyglutaric aciduria semapv:UnspecifiedMatching MONDO:0009370 L-2-hydroxyglutaric aciduria skos:exactMatch Orphanet:79314 L-2-hydroxyglutaric aciduria semapv:UnspecifiedMatching MONDO:0009370 L-2-hydroxyglutaric aciduria skos:exactMatch SCTID:237961001 semapv:UnspecifiedMatching MONDO:0009370 L-2-hydroxyglutaric aciduria skos:exactMatch UMLS:C1855995 semapv:UnspecifiedMatching MONDO:0009370 L-2-hydroxyglutaric aciduria skos:exactMatch icd11.foundation:562958433 L-2-hydroxyglutaric aciduria semapv:UnspecifiedMatching MONDO:0009371 3-hydroxyisobutyric aciduria skos:exactMatch MEDGEN:90996 semapv:UnspecifiedMatching MONDO:0009371 3-hydroxyisobutyric aciduria skos:exactMatch OMIM:236795 3-hydroxyisobutyric aciduria semapv:UnspecifiedMatching MONDO:0009371 3-hydroxyisobutyric aciduria skos:exactMatch Orphanet:939 3-hydroxyisobutyric aciduria semapv:UnspecifiedMatching MONDO:0009371 3-hydroxyisobutyric aciduria skos:exactMatch SCTID:237957007 semapv:UnspecifiedMatching MONDO:0009371 3-hydroxyisobutyric aciduria skos:exactMatch UMLS:C0342737 semapv:UnspecifiedMatching MONDO:0009371 3-hydroxyisobutyric aciduria skos:exactMatch icd11.foundation:1293648631 3-hydroxyisobutyric aciduria semapv:UnspecifiedMatching MONDO:0009371 3-hydroxyisobutyric aciduria skos:exactMatch mesh:C535312 semapv:UnspecifiedMatching MONDO:0009372 encephalopathy due to hydroxykynureninuria skos:exactMatch DOID:0112257 hydroxykynureninuria semapv:UnspecifiedMatching MONDO:0009372 encephalopathy due to hydroxykynureninuria skos:exactMatch MEDGEN:78681 semapv:UnspecifiedMatching MONDO:0009372 encephalopathy due to hydroxykynureninuria skos:exactMatch OMIM:236800 hydroxykynureninuria semapv:UnspecifiedMatching MONDO:0009372 encephalopathy due to hydroxykynureninuria skos:exactMatch Orphanet:79155 Hydroxykynureninuria semapv:UnspecifiedMatching MONDO:0009372 encephalopathy due to hydroxykynureninuria skos:exactMatch SCTID:72945002 semapv:UnspecifiedMatching MONDO:0009372 encephalopathy due to hydroxykynureninuria skos:exactMatch UMLS:C0268474 semapv:UnspecifiedMatching MONDO:0009372 encephalopathy due to hydroxykynureninuria skos:exactMatch icd11.foundation:1145853843 Encephalopathy due to hydroxykynureninuria semapv:UnspecifiedMatching MONDO:0009372 encephalopathy due to hydroxykynureninuria skos:exactMatch mesh:C536081 semapv:UnspecifiedMatching MONDO:0009373 seizures-intellectual disability due to hydroxylysinuria syndrome skos:exactMatch MEDGEN:343450 semapv:UnspecifiedMatching MONDO:0009373 seizures-intellectual disability due to hydroxylysinuria syndrome skos:exactMatch OMIM:236900 hydroxylysinuria semapv:UnspecifiedMatching MONDO:0009373 seizures-intellectual disability due to hydroxylysinuria syndrome skos:exactMatch Orphanet:79156 Seizures-intellectual disability due to hydroxylysinuria syndrome semapv:UnspecifiedMatching MONDO:0009373 seizures-intellectual disability due to hydroxylysinuria syndrome skos:exactMatch UMLS:C1855986 semapv:UnspecifiedMatching MONDO:0009373 seizures-intellectual disability due to hydroxylysinuria syndrome skos:exactMatch mesh:C565502 semapv:UnspecifiedMatching MONDO:0009374 hydroxyprolinemia skos:exactMatch MEDGEN:75691 semapv:UnspecifiedMatching MONDO:0009374 hydroxyprolinemia skos:exactMatch OMIM:237000 hydroxyprolinemia semapv:UnspecifiedMatching MONDO:0009374 hydroxyprolinemia skos:exactMatch SCTID:25739007 semapv:UnspecifiedMatching MONDO:0009374 hydroxyprolinemia skos:exactMatch UMLS:C0268531 semapv:UnspecifiedMatching MONDO:0009374 hydroxyprolinemia skos:exactMatch mesh:C562669 semapv:UnspecifiedMatching MONDO:0009375 hymen, imperforate skos:exactMatch ICD10CM:Q52.3 Imperforate hymen semapv:UnspecifiedMatching MONDO:0009375 hymen, imperforate skos:exactMatch MEDGEN:57775 semapv:UnspecifiedMatching MONDO:0009375 hymen, imperforate skos:exactMatch OMIM:237100 hymen, imperforate semapv:UnspecifiedMatching MONDO:0009375 hymen, imperforate skos:exactMatch SCTID:65937002 semapv:UnspecifiedMatching MONDO:0009375 hymen, imperforate skos:exactMatch UMLS:C0152436 semapv:UnspecifiedMatching MONDO:0009375 hymen, imperforate skos:exactMatch mesh:C562397 semapv:UnspecifiedMatching MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease skos:exactMatch DOID:9280 carbamoyl phosphate synthetase I deficiency disease semapv:UnspecifiedMatching MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease skos:exactMatch EFO:0007193 semapv:UnspecifiedMatching MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease skos:exactMatch MEDGEN:907954 semapv:UnspecifiedMatching MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease skos:exactMatch NCIT:C84612 Carbamoyl-Phosphate Synthetase I Deficiency semapv:UnspecifiedMatching MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease skos:exactMatch OMIM:237300 carbamoyl phosphate synthetase 1 deficiency, hyperammonemia due to semapv:UnspecifiedMatching MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease skos:exactMatch Orphanet:147 Carbamoyl-phosphate synthetase 1 deficiency semapv:UnspecifiedMatching MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease skos:exactMatch SCTID:62522004 semapv:UnspecifiedMatching MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease skos:exactMatch UMLS:C4082171 semapv:UnspecifiedMatching MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease skos:exactMatch icd11.foundation:327894003 Carbamoylphosphate synthetase deficiency semapv:UnspecifiedMatching MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease skos:exactMatch mesh:D020165 semapv:UnspecifiedMatching MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:exactMatch DOID:0112258 N-acetylglutamate synthase deficiency semapv:UnspecifiedMatching MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:exactMatch MEDGEN:120649 semapv:UnspecifiedMatching MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:exactMatch NCIT:C129307 N-Acetylglutamate Synthase Deficiency semapv:UnspecifiedMatching MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:exactMatch OMIM:237310 n-acetylglutamate synthase deficiency semapv:UnspecifiedMatching MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:exactMatch Orphanet:927 Hyperammonemia due to N-acetylglutamate synthase deficiency semapv:UnspecifiedMatching MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:exactMatch SCTID:57119000 semapv:UnspecifiedMatching MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:exactMatch UMLS:C0268543 semapv:UnspecifiedMatching MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:exactMatch mesh:C536109 semapv:UnspecifiedMatching MONDO:0009378 hyper-beta-alaninemia skos:exactMatch MEDGEN:75702 semapv:UnspecifiedMatching MONDO:0009378 hyper-beta-alaninemia skos:exactMatch OMIM:237400 hyper-beta-alaninemia semapv:UnspecifiedMatching MONDO:0009378 hyper-beta-alaninemia skos:exactMatch Orphanet:309147 Hyper-beta-alaninemia semapv:UnspecifiedMatching MONDO:0009378 hyper-beta-alaninemia skos:exactMatch SCTID:2359002 semapv:UnspecifiedMatching MONDO:0009378 hyper-beta-alaninemia skos:exactMatch UMLS:C0268630 semapv:UnspecifiedMatching MONDO:0009378 hyper-beta-alaninemia skos:exactMatch mesh:C562684 semapv:UnspecifiedMatching MONDO:0009379 Rotor syndrome skos:exactMatch MEDGEN:67435 semapv:UnspecifiedMatching MONDO:0009379 Rotor syndrome skos:exactMatch OMIM:237450 hyperbilirubinemia, rotor type semapv:UnspecifiedMatching MONDO:0009379 Rotor syndrome skos:exactMatch Orphanet:3111 Rotor syndrome semapv:UnspecifiedMatching MONDO:0009379 Rotor syndrome skos:exactMatch SCTID:32891000 semapv:UnspecifiedMatching MONDO:0009379 Rotor syndrome skos:exactMatch UMLS:C0220991 semapv:UnspecifiedMatching MONDO:0009379 Rotor syndrome skos:exactMatch icd11.foundation:1965776012 Rotor syndrome semapv:UnspecifiedMatching MONDO:0009380 Dubin-Johnson syndrome skos:exactMatch DOID:12308 Dubin-Johnson syndrome semapv:UnspecifiedMatching MONDO:0009380 Dubin-Johnson syndrome skos:exactMatch MEDGEN:7181 semapv:UnspecifiedMatching MONDO:0009380 Dubin-Johnson syndrome skos:exactMatch NCIT:C34741 Dubin-Johnson Syndrome semapv:UnspecifiedMatching MONDO:0009380 Dubin-Johnson syndrome skos:exactMatch OMIM:237500 dubin-johnson syndrome semapv:UnspecifiedMatching MONDO:0009380 Dubin-Johnson syndrome skos:exactMatch Orphanet:234 Dubin-Johnson syndrome semapv:UnspecifiedMatching MONDO:0009380 Dubin-Johnson syndrome skos:exactMatch SCTID:44553005 semapv:UnspecifiedMatching MONDO:0009380 Dubin-Johnson syndrome skos:exactMatch UMLS:C0022350 semapv:UnspecifiedMatching MONDO:0009380 Dubin-Johnson syndrome skos:exactMatch icd11.foundation:1691610999 Dubin-Johnson syndrome semapv:UnspecifiedMatching MONDO:0009380 Dubin-Johnson syndrome skos:exactMatch mesh:D007566 semapv:UnspecifiedMatching MONDO:0009381 hyperbilirubinemia, conjugated, type 3 skos:exactMatch MEDGEN:98323 semapv:UnspecifiedMatching MONDO:0009381 hyperbilirubinemia, conjugated, type 3 skos:exactMatch OMIM:237550 hyperbilirubinemia, conjugated, type 3 semapv:UnspecifiedMatching MONDO:0009381 hyperbilirubinemia, conjugated, type 3 skos:exactMatch SCTID:235906009 semapv:UnspecifiedMatching MONDO:0009381 hyperbilirubinemia, conjugated, type 3 skos:exactMatch UMLS:C0400964 semapv:UnspecifiedMatching MONDO:0009381 hyperbilirubinemia, conjugated, type 3 skos:exactMatch mesh:C562885 semapv:UnspecifiedMatching MONDO:0009382 hyperbilirubinemia, shunt, primary skos:exactMatch MEDGEN:763312 semapv:UnspecifiedMatching MONDO:0009382 hyperbilirubinemia, shunt, primary skos:exactMatch OMIM:237800 hyperbilirubinemia, shunt, primary semapv:UnspecifiedMatching MONDO:0009382 hyperbilirubinemia, shunt, primary skos:exactMatch UMLS:C3550398 semapv:UnspecifiedMatching MONDO:0009383 transient familial neonatal hyperbilirubinemia skos:exactMatch MEDGEN:75718 semapv:UnspecifiedMatching MONDO:0009383 transient familial neonatal hyperbilirubinemia skos:exactMatch OMIM:237900 hyperbilirubinemia, transient familial neonatal semapv:UnspecifiedMatching MONDO:0009383 transient familial neonatal hyperbilirubinemia skos:exactMatch Orphanet:2312 Transient familial neonatal hyperbilirubinemia semapv:UnspecifiedMatching MONDO:0009383 transient familial neonatal hyperbilirubinemia skos:exactMatch UMLS:C0270210 semapv:UnspecifiedMatching MONDO:0009383 transient familial neonatal hyperbilirubinemia skos:exactMatch mesh:C562692 semapv:UnspecifiedMatching MONDO:0009384 Leydig cell hypoplasia, type 1 skos:exactMatch MEDGEN:120576 semapv:UnspecifiedMatching MONDO:0009384 Leydig cell hypoplasia, type 1 skos:exactMatch OMIM:238320 leydig cell hypoplasia, type 1 semapv:UnspecifiedMatching MONDO:0009384 Leydig cell hypoplasia, type 1 skos:exactMatch UMLS:C0266432 semapv:UnspecifiedMatching MONDO:0009385 hyperleucine-Isoleucinemia skos:exactMatch MEDGEN:82821 semapv:UnspecifiedMatching MONDO:0009385 hyperleucine-Isoleucinemia skos:exactMatch OMIM:238340 hyperleucine-isoleucinemia semapv:UnspecifiedMatching MONDO:0009385 hyperleucine-Isoleucinemia skos:exactMatch SCTID:7046009 semapv:UnspecifiedMatching MONDO:0009385 hyperleucine-Isoleucinemia skos:exactMatch UMLS:C0268574 semapv:UnspecifiedMatching MONDO:0009385 hyperleucine-Isoleucinemia skos:exactMatch mesh:C562674 semapv:UnspecifiedMatching MONDO:0009386 hyperlexia skos:exactMatch MEDGEN:341011 semapv:UnspecifiedMatching MONDO:0009386 hyperlexia skos:exactMatch OMIM:238350 hyperlexia semapv:UnspecifiedMatching MONDO:0009386 hyperlexia skos:exactMatch UMLS:C1855928 semapv:UnspecifiedMatching MONDO:0009386 hyperlexia skos:exactMatch mesh:C565500 semapv:UnspecifiedMatching MONDO:0009387 familial lipoprotein lipase deficiency skos:exactMatch DOID:14118 familial lipoprotein lipase deficiency semapv:UnspecifiedMatching MONDO:0009387 familial lipoprotein lipase deficiency skos:exactMatch MEDGEN:7352 semapv:UnspecifiedMatching MONDO:0009387 familial lipoprotein lipase deficiency skos:exactMatch NCIT:C84771 Hyperlipoproteinemia, Type I semapv:UnspecifiedMatching MONDO:0009387 familial lipoprotein lipase deficiency skos:exactMatch OMIM:238600 hyperlipoproteinemia, type 1 semapv:UnspecifiedMatching MONDO:0009387 familial lipoprotein lipase deficiency skos:exactMatch Orphanet:309015 Familial lipoprotein lipase deficiency semapv:UnspecifiedMatching MONDO:0009387 familial lipoprotein lipase deficiency skos:exactMatch SCTID:275598004 semapv:UnspecifiedMatching MONDO:0009387 familial lipoprotein lipase deficiency skos:exactMatch UMLS:C0023817 semapv:UnspecifiedMatching MONDO:0009387 familial lipoprotein lipase deficiency skos:exactMatch icd11.foundation:1829539217 Familial lipoprotein lipase deficiency semapv:UnspecifiedMatching MONDO:0009387 familial lipoprotein lipase deficiency skos:exactMatch mesh:D008072 semapv:UnspecifiedMatching MONDO:0009388 hyperlysinemia skos:exactMatch DOID:9274 hyperlysinemia semapv:UnspecifiedMatching MONDO:0009388 hyperlysinemia skos:exactMatch MEDGEN:82816 semapv:UnspecifiedMatching MONDO:0009388 hyperlysinemia skos:exactMatch NCIT:C123433 Hyperlysinemia semapv:UnspecifiedMatching MONDO:0009388 hyperlysinemia skos:exactMatch OMIM:238700 hyperlysinemia, type 1 semapv:UnspecifiedMatching MONDO:0009388 hyperlysinemia skos:exactMatch Orphanet:2203 Hyperlysinemia semapv:UnspecifiedMatching MONDO:0009388 hyperlysinemia skos:exactMatch SCTID:58558003 semapv:UnspecifiedMatching MONDO:0009388 hyperlysinemia skos:exactMatch UMLS:C0268553 semapv:UnspecifiedMatching MONDO:0009389 hyperlysinemia due to defect in lysine transport into mitochondria skos:exactMatch MEDGEN:341010 semapv:UnspecifiedMatching MONDO:0009389 hyperlysinemia due to defect in lysine transport into mitochondria skos:exactMatch OMIM:238710 hyperlysinemia due to defect 1n lysine transport into mitochondria semapv:UnspecifiedMatching MONDO:0009389 hyperlysinemia due to defect in lysine transport into mitochondria skos:exactMatch UMLS:C1855927 semapv:UnspecifiedMatching MONDO:0009389 hyperlysinemia due to defect in lysine transport into mitochondria skos:exactMatch mesh:C565499 semapv:UnspecifiedMatching MONDO:0009390 hyperlysinuria with hyperammonemia skos:exactMatch MEDGEN:120650 semapv:UnspecifiedMatching MONDO:0009390 hyperlysinuria with hyperammonemia skos:exactMatch OMIM:238750 hyperlysinuria with hyperammonemia semapv:UnspecifiedMatching MONDO:0009390 hyperlysinuria with hyperammonemia skos:exactMatch SCTID:342553006 semapv:UnspecifiedMatching MONDO:0009390 hyperlysinuria with hyperammonemia skos:exactMatch UMLS:C0268555 semapv:UnspecifiedMatching MONDO:0009391 hypermetabolism due to defect in mitochondria skos:exactMatch MEDGEN:344612 semapv:UnspecifiedMatching MONDO:0009391 hypermetabolism due to defect in mitochondria skos:exactMatch OMIM:238800 hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 1 semapv:UnspecifiedMatching MONDO:0009391 hypermetabolism due to defect in mitochondria skos:exactMatch UMLS:C1855926 semapv:UnspecifiedMatching MONDO:0009391 hypermetabolism due to defect in mitochondria skos:exactMatch mesh:C565498 semapv:UnspecifiedMatching MONDO:0009392 hyperopia, high skos:exactMatch MEDGEN:341009 semapv:UnspecifiedMatching MONDO:0009392 hyperopia, high skos:exactMatch OMIM:238950 hyperopia, high semapv:UnspecifiedMatching MONDO:0009392 hyperopia, high skos:exactMatch UMLS:C1855925 semapv:UnspecifiedMatching MONDO:0009392 hyperopia, high skos:exactMatch mesh:C565497 semapv:UnspecifiedMatching MONDO:0009393 ornithine translocase deficiency skos:exactMatch DOID:0050720 ornithine translocase deficiency semapv:UnspecifiedMatching MONDO:0009393 ornithine translocase deficiency skos:exactMatch MEDGEN:82815 semapv:UnspecifiedMatching MONDO:0009393 ornithine translocase deficiency skos:exactMatch NCIT:C129029 Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome semapv:UnspecifiedMatching MONDO:0009393 ornithine translocase deficiency skos:exactMatch OMIM:238970 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome semapv:UnspecifiedMatching MONDO:0009393 ornithine translocase deficiency skos:exactMatch Orphanet:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome semapv:UnspecifiedMatching MONDO:0009393 ornithine translocase deficiency skos:exactMatch SCTID:30287008 semapv:UnspecifiedMatching MONDO:0009393 ornithine translocase deficiency skos:exactMatch UMLS:C0268540 semapv:UnspecifiedMatching MONDO:0009393 ornithine translocase deficiency skos:exactMatch mesh:C538380 semapv:UnspecifiedMatching MONDO:0009394 juvenile Paget disease skos:exactMatch DOID:0081368 Paget's disease of bone 5 semapv:UnspecifiedMatching MONDO:0009394 juvenile Paget disease skos:exactMatch MEDGEN:75678 semapv:UnspecifiedMatching MONDO:0009394 juvenile Paget disease skos:exactMatch NCIT:C131861 Juvenile Paget Disease semapv:UnspecifiedMatching MONDO:0009394 juvenile Paget disease skos:exactMatch OMIM:239000 paget disease of bone 5, juvenile-onset semapv:UnspecifiedMatching MONDO:0009394 juvenile Paget disease skos:exactMatch Orphanet:2801 Juvenile Paget disease semapv:UnspecifiedMatching MONDO:0009394 juvenile Paget disease skos:exactMatch SCTID:9723006 semapv:UnspecifiedMatching MONDO:0009394 juvenile Paget disease skos:exactMatch UMLS:C0268414 semapv:UnspecifiedMatching MONDO:0009394 juvenile Paget disease skos:exactMatch icd11.foundation:762002965 Juvenile Paget disease semapv:UnspecifiedMatching MONDO:0009394 juvenile Paget disease skos:exactMatch mesh:C537701 semapv:UnspecifiedMatching MONDO:0009395 hyperostosis corticalis generalisata skos:exactMatch DOID:0080036 SOST-related sclerosing bone dysplasia semapv:UnspecifiedMatching MONDO:0009395 hyperostosis corticalis generalisata skos:exactMatch MEDGEN:98484 semapv:UnspecifiedMatching MONDO:0009395 hyperostosis corticalis generalisata skos:exactMatch NCIT:C131812 Endosteal Hyperostosis semapv:UnspecifiedMatching MONDO:0009395 hyperostosis corticalis generalisata skos:exactMatch OMIM:239100 van buchem disease semapv:UnspecifiedMatching MONDO:0009395 hyperostosis corticalis generalisata skos:exactMatch Orphanet:3416 Hyperostosis corticalis generalisata semapv:UnspecifiedMatching MONDO:0009395 hyperostosis corticalis generalisata skos:exactMatch SCTID:59763006 semapv:UnspecifiedMatching MONDO:0009395 hyperostosis corticalis generalisata skos:exactMatch UMLS:C0432272 semapv:UnspecifiedMatching MONDO:0009395 hyperostosis corticalis generalisata skos:exactMatch icd11.foundation:241514592 Hyperostosis corticalis generalisata semapv:UnspecifiedMatching MONDO:0009396 hyperparathyroidism, neonatal self-limited primary, with hypercalciuria skos:exactMatch MEDGEN:344611 semapv:UnspecifiedMatching MONDO:0009396 hyperparathyroidism, neonatal self-limited primary, with hypercalciuria skos:exactMatch OMIM:239199 hyperparathyroidism, neonatal self-limited primary, with hypercalciuria semapv:UnspecifiedMatching MONDO:0009396 hyperparathyroidism, neonatal self-limited primary, with hypercalciuria skos:exactMatch UMLS:C1855924 semapv:UnspecifiedMatching MONDO:0009396 hyperparathyroidism, neonatal self-limited primary, with hypercalciuria skos:exactMatch mesh:C565496 semapv:UnspecifiedMatching MONDO:0009397 neonatal severe primary hyperparathyroidism skos:exactMatch MEDGEN:331326 semapv:UnspecifiedMatching MONDO:0009397 neonatal severe primary hyperparathyroidism skos:exactMatch NCIT:C131853 Neonatal Severe Primary Hyperparathyroidism semapv:UnspecifiedMatching MONDO:0009397 neonatal severe primary hyperparathyroidism skos:exactMatch OMIM:239200 hyperparathyroidism, neonatal severe semapv:UnspecifiedMatching MONDO:0009397 neonatal severe primary hyperparathyroidism skos:exactMatch Orphanet:417 Neonatal severe primary hyperparathyroidism semapv:UnspecifiedMatching MONDO:0009397 neonatal severe primary hyperparathyroidism skos:exactMatch SCTID:715218009 semapv:UnspecifiedMatching MONDO:0009397 neonatal severe primary hyperparathyroidism skos:exactMatch UMLS:C1832615 semapv:UnspecifiedMatching MONDO:0009397 neonatal severe primary hyperparathyroidism skos:exactMatch icd11.foundation:1929875111 Neonatal severe primary hyperparathyroidism semapv:UnspecifiedMatching MONDO:0009397 neonatal severe primary hyperparathyroidism skos:exactMatch mesh:C563375 semapv:UnspecifiedMatching MONDO:0009398 hyperphosphatasia with intellectual disability syndrome 1 skos:exactMatch DOID:0070433 hyperphosphatasia with impaired intellectual development syndrome 1 semapv:UnspecifiedMatching MONDO:0009398 hyperphosphatasia with intellectual disability syndrome 1 skos:exactMatch MEDGEN:1647044 semapv:UnspecifiedMatching MONDO:0009398 hyperphosphatasia with intellectual disability syndrome 1 skos:exactMatch OMIM:239300 hyperphosphatasia with impaired intellectual development syndrome 1 semapv:UnspecifiedMatching MONDO:0009398 hyperphosphatasia with intellectual disability syndrome 1 skos:exactMatch UMLS:C4551502 semapv:UnspecifiedMatching MONDO:0009399 hyperphosphatemia, polyuria, and seizures skos:exactMatch MEDGEN:343444 semapv:UnspecifiedMatching MONDO:0009399 hyperphosphatemia, polyuria, and seizures skos:exactMatch OMIM:239350 hyperphosphatemia, polyuria, and seizures semapv:UnspecifiedMatching MONDO:0009399 hyperphosphatemia, polyuria, and seizures skos:exactMatch UMLS:C1855922 semapv:UnspecifiedMatching MONDO:0009399 hyperphosphatemia, polyuria, and seizures skos:exactMatch mesh:C565494 semapv:UnspecifiedMatching MONDO:0009400 hyperprolinemia type 1 skos:exactMatch DOID:0080542 hyperprolinemia type 1 semapv:UnspecifiedMatching MONDO:0009400 hyperprolinemia type 1 skos:exactMatch MEDGEN:120645 semapv:UnspecifiedMatching MONDO:0009400 hyperprolinemia type 1 skos:exactMatch OMIM:239500 hyperprolinemia, type 1 semapv:UnspecifiedMatching MONDO:0009400 hyperprolinemia type 1 skos:exactMatch Orphanet:419 Hyperprolinemia type 1 semapv:UnspecifiedMatching MONDO:0009400 hyperprolinemia type 1 skos:exactMatch SCTID:61071003 semapv:UnspecifiedMatching MONDO:0009400 hyperprolinemia type 1 skos:exactMatch UMLS:C0268529 semapv:UnspecifiedMatching MONDO:0009401 hyperprolinemia type 2 skos:exactMatch DOID:0080543 hyperprolinemia type 2 semapv:UnspecifiedMatching MONDO:0009401 hyperprolinemia type 2 skos:exactMatch MEDGEN:419175 semapv:UnspecifiedMatching MONDO:0009401 hyperprolinemia type 2 skos:exactMatch OMIM:239510 hyperprolinemia, type 2 semapv:UnspecifiedMatching MONDO:0009401 hyperprolinemia type 2 skos:exactMatch Orphanet:79101 Hyperprolinemia type 2 semapv:UnspecifiedMatching MONDO:0009401 hyperprolinemia type 2 skos:exactMatch SCTID:717181004 semapv:UnspecifiedMatching MONDO:0009401 hyperprolinemia type 2 skos:exactMatch UMLS:C2931835 semapv:UnspecifiedMatching MONDO:0009401 hyperprolinemia type 2 skos:exactMatch mesh:C538385 semapv:UnspecifiedMatching MONDO:0009402 acrofrontofacionasal dysostosis 2 skos:exactMatch MEDGEN:383797 semapv:UnspecifiedMatching MONDO:0009402 acrofrontofacionasal dysostosis 2 skos:exactMatch OMIM:239710 acrofrontofacionasal dysostosis 2 semapv:UnspecifiedMatching MONDO:0009402 acrofrontofacionasal dysostosis 2 skos:exactMatch Orphanet:2211 Hypertelorism-hypospadias-polysyndactyly syndrome semapv:UnspecifiedMatching MONDO:0009402 acrofrontofacionasal dysostosis 2 skos:exactMatch SCTID:721835008 semapv:UnspecifiedMatching MONDO:0009402 acrofrontofacionasal dysostosis 2 skos:exactMatch UMLS:C1855904 semapv:UnspecifiedMatching MONDO:0009402 acrofrontofacionasal dysostosis 2 skos:exactMatch mesh:C538332 semapv:UnspecifiedMatching MONDO:0009403 hypertelorism and tetralogy of fallot skos:exactMatch MEDGEN:344606 semapv:UnspecifiedMatching MONDO:0009403 hypertelorism and tetralogy of fallot skos:exactMatch OMIM:239711 hypertelorism and tetralogy of fallot semapv:UnspecifiedMatching MONDO:0009403 hypertelorism and tetralogy of fallot skos:exactMatch UMLS:C1855903 semapv:UnspecifiedMatching MONDO:0009403 hypertelorism and tetralogy of fallot skos:exactMatch mesh:C538386 semapv:UnspecifiedMatching MONDO:0009404 hypertelorism, microtia, facial clefting syndrome skos:exactMatch DOID:14670 hypertelorism, microtia, facial clefting syndrome semapv:UnspecifiedMatching MONDO:0009404 hypertelorism, microtia, facial clefting syndrome skos:exactMatch MEDGEN:113104 semapv:UnspecifiedMatching MONDO:0009404 hypertelorism, microtia, facial clefting syndrome skos:exactMatch OMIM:239800 hypertelorism, microtia, facial clefting syndrome semapv:UnspecifiedMatching MONDO:0009404 hypertelorism, microtia, facial clefting syndrome skos:exactMatch Orphanet:2213 Hypertelorism-microtia-facial clefting syndrome semapv:UnspecifiedMatching MONDO:0009404 hypertelorism, microtia, facial clefting syndrome skos:exactMatch SCTID:721836009 semapv:UnspecifiedMatching MONDO:0009404 hypertelorism, microtia, facial clefting syndrome skos:exactMatch UMLS:C0220742 semapv:UnspecifiedMatching MONDO:0009404 hypertelorism, microtia, facial clefting syndrome skos:exactMatch mesh:C537632 semapv:UnspecifiedMatching MONDO:0009405 cervical hypertrichosis-peripheral neuropathy syndrome skos:exactMatch MEDGEN:341004 semapv:UnspecifiedMatching MONDO:0009405 cervical hypertrichosis-peripheral neuropathy syndrome skos:exactMatch OMIM:239840 hypertrichosis, congenital anterior cervical, with peripheral sensory and motor neuropathy semapv:UnspecifiedMatching MONDO:0009405 cervical hypertrichosis-peripheral neuropathy syndrome skos:exactMatch Orphanet:2218 Cervical hypertrichosis-peripheral neuropathy syndrome semapv:UnspecifiedMatching MONDO:0009405 cervical hypertrichosis-peripheral neuropathy syndrome skos:exactMatch UMLS:C1855902 semapv:UnspecifiedMatching MONDO:0009405 cervical hypertrichosis-peripheral neuropathy syndrome skos:exactMatch mesh:C565492 semapv:UnspecifiedMatching MONDO:0009406 hypertrichotic osteochondrodysplasia Cantu type skos:exactMatch DOID:0060569 hypertrichotic osteochondrodysplasia Cantu type semapv:UnspecifiedMatching MONDO:0009406 hypertrichotic osteochondrodysplasia Cantu type skos:exactMatch MEDGEN:208647 semapv:UnspecifiedMatching MONDO:0009406 hypertrichotic osteochondrodysplasia Cantu type skos:exactMatch OMIM:239850 cantu syndrome semapv:UnspecifiedMatching MONDO:0009406 hypertrichotic osteochondrodysplasia Cantu type skos:exactMatch Orphanet:1517 Cantú syndrome semapv:UnspecifiedMatching MONDO:0009406 hypertrichotic osteochondrodysplasia Cantu type skos:exactMatch SCTID:239087008 semapv:UnspecifiedMatching MONDO:0009406 hypertrichotic osteochondrodysplasia Cantu type skos:exactMatch UMLS:C0795905 semapv:UnspecifiedMatching MONDO:0009406 hypertrichotic osteochondrodysplasia Cantu type skos:exactMatch mesh:C535572 semapv:UnspecifiedMatching MONDO:0009407 hypertrophic neuropathy and cataract skos:exactMatch MEDGEN:344602 semapv:UnspecifiedMatching MONDO:0009407 hypertrophic neuropathy and cataract skos:exactMatch OMIM:239900 hypertrophic neuropathy and cataract semapv:UnspecifiedMatching MONDO:0009407 hypertrophic neuropathy and cataract skos:exactMatch UMLS:C1855885 semapv:UnspecifiedMatching MONDO:0009407 hypertrophic neuropathy and cataract skos:exactMatch mesh:C565490 semapv:UnspecifiedMatching MONDO:0009408 hyperuricemia, infantile, with abnormal behavior and normal hypoxanthine guanine phosphoribosyltransferase skos:exactMatch MEDGEN:383794 semapv:UnspecifiedMatching MONDO:0009408 hyperuricemia, infantile, with abnormal behavior and normal hypoxanthine guanine phosphoribosyltransferase skos:exactMatch OMIM:240000 hyperuricemia, infantile, with abnormal behavior and normal hypoxanthine guanine phosphoribosyltransferase semapv:UnspecifiedMatching MONDO:0009408 hyperuricemia, infantile, with abnormal behavior and normal hypoxanthine guanine phosphoribosyltransferase skos:exactMatch UMLS:C1855884 semapv:UnspecifiedMatching MONDO:0009408 hyperuricemia, infantile, with abnormal behavior and normal hypoxanthine guanine phosphoribosyltransferase skos:exactMatch mesh:C565489 semapv:UnspecifiedMatching MONDO:0009409 hypervitaminosis a, susceptibility to skos:exactMatch MEDGEN:343435 semapv:UnspecifiedMatching MONDO:0009409 hypervitaminosis a, susceptibility to skos:exactMatch OMIM:240150 hypervitaminosis a, susceptibility to semapv:UnspecifiedMatching MONDO:0009409 hypervitaminosis a, susceptibility to skos:exactMatch UMLS:C1855883 semapv:UnspecifiedMatching MONDO:0009411 autoimmune polyendocrine syndrome type 1 skos:exactMatch DOID:0050167 autoimmune polyendocrine syndrome type 1 semapv:UnspecifiedMatching MONDO:0009411 autoimmune polyendocrine syndrome type 1 skos:exactMatch MEDGEN:39125 semapv:UnspecifiedMatching MONDO:0009411 autoimmune polyendocrine syndrome type 1 skos:exactMatch NCIT:C129727 Autoimmune Polyglandular Syndrome Type 1 semapv:UnspecifiedMatching MONDO:0009411 autoimmune polyendocrine syndrome type 1 skos:exactMatch OMIM:240300 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia semapv:UnspecifiedMatching MONDO:0009411 autoimmune polyendocrine syndrome type 1 skos:exactMatch Orphanet:3453 Autoimmune polyendocrinopathy type 1 semapv:UnspecifiedMatching MONDO:0009411 autoimmune polyendocrine syndrome type 1 skos:exactMatch SCTID:11244009 semapv:UnspecifiedMatching MONDO:0009411 autoimmune polyendocrine syndrome type 1 skos:exactMatch UMLS:C0085859 semapv:UnspecifiedMatching MONDO:0009412 scurvy skos:exactMatch DOID:13724 scurvy semapv:UnspecifiedMatching MONDO:0009412 scurvy skos:exactMatch EFO:1001169 semapv:UnspecifiedMatching MONDO:0009412 scurvy skos:exactMatch ICD10CM:E54 Ascorbic acid deficiency semapv:UnspecifiedMatching MONDO:0009412 scurvy skos:exactMatch MEDGEN:20684 semapv:UnspecifiedMatching MONDO:0009412 scurvy skos:exactMatch NCIT:C35010 Vitamin C Deficiency semapv:UnspecifiedMatching MONDO:0009412 scurvy skos:exactMatch OMIM:240400 hypoascorbemia semapv:UnspecifiedMatching MONDO:0009412 scurvy skos:exactMatch SCTID:76169001 semapv:UnspecifiedMatching MONDO:0009412 scurvy skos:exactMatch UMLS:C0036474 semapv:UnspecifiedMatching MONDO:0009412 scurvy skos:exactMatch icd11.foundation:708602629 Scurvy semapv:UnspecifiedMatching MONDO:0009412 scurvy skos:exactMatch mesh:D001206 semapv:UnspecifiedMatching MONDO:0009412 scurvy skos:exactMatch mesh:D012614 semapv:UnspecifiedMatching MONDO:0009413 immunodeficiency, common variable, 2 skos:exactMatch DOID:0081145 common variable immunodeficiency 2 semapv:UnspecifiedMatching MONDO:0009413 immunodeficiency, common variable, 2 skos:exactMatch MEDGEN:461704 semapv:UnspecifiedMatching MONDO:0009413 immunodeficiency, common variable, 2 skos:exactMatch OMIM:240500 immunodeficiency, common variable, 2 semapv:UnspecifiedMatching MONDO:0009413 immunodeficiency, common variable, 2 skos:exactMatch UMLS:C3150354 semapv:UnspecifiedMatching MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:exactMatch MEDGEN:343430 semapv:UnspecifiedMatching MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:exactMatch OMIM:240600 glycogen storage disease 0, liver semapv:UnspecifiedMatching MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:exactMatch Orphanet:2089 Glycogen storage disease due to hepatic glycogen synthase deficiency semapv:UnspecifiedMatching MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:exactMatch SCTID:237964009 semapv:UnspecifiedMatching MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:exactMatch UMLS:C1855861 semapv:UnspecifiedMatching MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:exactMatch mesh:C565485 semapv:UnspecifiedMatching MONDO:0009415 hypoglycemia, leucine-induced skos:exactMatch DOID:0112262 leucine-sensitive hypoglycemia of infancy semapv:UnspecifiedMatching MONDO:0009415 hypoglycemia, leucine-induced skos:exactMatch MEDGEN:82888 semapv:UnspecifiedMatching MONDO:0009415 hypoglycemia, leucine-induced skos:exactMatch OMIM:240800 hypoglycemia, leucine-induced semapv:UnspecifiedMatching MONDO:0009415 hypoglycemia, leucine-induced skos:exactMatch SCTID:62151007 semapv:UnspecifiedMatching MONDO:0009415 hypoglycemia, leucine-induced skos:exactMatch UMLS:C0271714 semapv:UnspecifiedMatching MONDO:0009415 hypoglycemia, leucine-induced skos:exactMatch mesh:C537150 semapv:UnspecifiedMatching MONDO:0009416 hypoinsulinemic hypoglycemia and body hemihypertrophy skos:exactMatch DOID:0112263 hypoinsulinemic hypoglycemia with hemihypertrophy semapv:UnspecifiedMatching MONDO:0009416 hypoinsulinemic hypoglycemia and body hemihypertrophy skos:exactMatch MEDGEN:480014 semapv:UnspecifiedMatching MONDO:0009416 hypoinsulinemic hypoglycemia and body hemihypertrophy skos:exactMatch OMIM:240900 hypoinsulinemic hypoglycemia with hemihypertrophy semapv:UnspecifiedMatching MONDO:0009416 hypoinsulinemic hypoglycemia and body hemihypertrophy skos:exactMatch Orphanet:293964 Hypoinsulinemic hypoglycemia and body hemihypertrophy semapv:UnspecifiedMatching MONDO:0009416 hypoinsulinemic hypoglycemia and body hemihypertrophy skos:exactMatch UMLS:C3278384 semapv:UnspecifiedMatching MONDO:0009417 hypergonadotropic hypogonadism-cataract syndrome skos:exactMatch MEDGEN:344596 semapv:UnspecifiedMatching MONDO:0009417 hypergonadotropic hypogonadism-cataract syndrome skos:exactMatch OMIM:240950 hypogonadism-cataract syndrome semapv:UnspecifiedMatching MONDO:0009417 hypergonadotropic hypogonadism-cataract syndrome skos:exactMatch Orphanet:2410 Hypergonadotropic hypogonadism-cataract syndrome semapv:UnspecifiedMatching MONDO:0009417 hypergonadotropic hypogonadism-cataract syndrome skos:exactMatch SCTID:721233005 semapv:UnspecifiedMatching MONDO:0009417 hypergonadotropic hypogonadism-cataract syndrome skos:exactMatch UMLS:C1855859 semapv:UnspecifiedMatching MONDO:0009417 hypergonadotropic hypogonadism-cataract syndrome skos:exactMatch mesh:C543092 semapv:UnspecifiedMatching MONDO:0009418 hypogonadism with low-grade mental deficiency and microcephaly skos:exactMatch MEDGEN:383787 semapv:UnspecifiedMatching MONDO:0009418 hypogonadism with low-grade mental deficiency and microcephaly skos:exactMatch OMIM:241000 hypogonadism with low-grade mental deficiency and microcephaly semapv:UnspecifiedMatching MONDO:0009418 hypogonadism with low-grade mental deficiency and microcephaly skos:exactMatch UMLS:C1855858 semapv:UnspecifiedMatching MONDO:0009418 hypogonadism with low-grade mental deficiency and microcephaly skos:exactMatch mesh:C565482 semapv:UnspecifiedMatching MONDO:0009419 Woodhouse-Sakati syndrome skos:exactMatch DOID:0112264 Woodhouse-Sakati syndrome semapv:UnspecifiedMatching MONDO:0009419 Woodhouse-Sakati syndrome skos:exactMatch MEDGEN:83337 semapv:UnspecifiedMatching MONDO:0009419 Woodhouse-Sakati syndrome skos:exactMatch OMIM:241080 woodhouse-sakati syndrome semapv:UnspecifiedMatching MONDO:0009419 Woodhouse-Sakati syndrome skos:exactMatch Orphanet:3464 Woodhouse-Sakati syndrome semapv:UnspecifiedMatching MONDO:0009419 Woodhouse-Sakati syndrome skos:exactMatch SCTID:237616002 semapv:UnspecifiedMatching MONDO:0009419 Woodhouse-Sakati syndrome skos:exactMatch UMLS:C0342286 semapv:UnspecifiedMatching MONDO:0009419 Woodhouse-Sakati syndrome skos:exactMatch icd11.foundation:1893572805 Woodhouse-Sakati syndrome semapv:UnspecifiedMatching MONDO:0009419 Woodhouse-Sakati syndrome skos:exactMatch mesh:C536742 semapv:UnspecifiedMatching MONDO:0009420 primary hypergonadotropic hypogonadism-partial alopecia syndrome skos:exactMatch MEDGEN:388650 semapv:UnspecifiedMatching MONDO:0009420 primary hypergonadotropic hypogonadism-partial alopecia syndrome skos:exactMatch OMIM:241090 hypergonadotropic hypogonadism and partial alopecia semapv:UnspecifiedMatching MONDO:0009420 primary hypergonadotropic hypogonadism-partial alopecia syndrome skos:exactMatch Orphanet:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome semapv:UnspecifiedMatching MONDO:0009420 primary hypergonadotropic hypogonadism-partial alopecia syndrome skos:exactMatch SCTID:719275009 semapv:UnspecifiedMatching MONDO:0009420 primary hypergonadotropic hypogonadism-partial alopecia syndrome skos:exactMatch UMLS:C2673480 semapv:UnspecifiedMatching MONDO:0009420 primary hypergonadotropic hypogonadism-partial alopecia syndrome skos:exactMatch mesh:C567109 semapv:UnspecifiedMatching MONDO:0009421 hypogonadism, male skos:exactMatch MEDGEN:57480 semapv:UnspecifiedMatching MONDO:0009421 hypogonadism, male skos:exactMatch OMIM:241100 hypogonadism, male semapv:UnspecifiedMatching MONDO:0009421 hypogonadism, male skos:exactMatch SCTID:48723006 semapv:UnspecifiedMatching MONDO:0009421 hypogonadism, male skos:exactMatch UMLS:C0151721 semapv:UnspecifiedMatching MONDO:0009422 hypohidrosis with abnormal palmar dermal Ridges skos:exactMatch MEDGEN:340989 semapv:UnspecifiedMatching MONDO:0009422 hypohidrosis with abnormal palmar dermal Ridges skos:exactMatch OMIM:241120 hypohidrosis with abnormal palmar dermal ridges semapv:UnspecifiedMatching MONDO:0009422 hypohidrosis with abnormal palmar dermal Ridges skos:exactMatch UMLS:C1855856 semapv:UnspecifiedMatching MONDO:0009422 hypohidrosis with abnormal palmar dermal Ridges skos:exactMatch mesh:C565481 semapv:UnspecifiedMatching MONDO:0009423 hypokalemic alkalosis, familial, with specific renal tubulopathy skos:exactMatch MEDGEN:78677 semapv:UnspecifiedMatching MONDO:0009423 hypokalemic alkalosis, familial, with specific renal tubulopathy skos:exactMatch OMIM:241150 hypokalemic alkalosis, familial, with specific renal tubulopathy semapv:UnspecifiedMatching MONDO:0009423 hypokalemic alkalosis, familial, with specific renal tubulopathy skos:exactMatch SCTID:81987005 semapv:UnspecifiedMatching MONDO:0009423 hypokalemic alkalosis, familial, with specific renal tubulopathy skos:exactMatch UMLS:C0268444 semapv:UnspecifiedMatching MONDO:0009423 hypokalemic alkalosis, familial, with specific renal tubulopathy skos:exactMatch mesh:C562654 semapv:UnspecifiedMatching MONDO:0009424 Bartter disease type 2 skos:exactMatch DOID:0110143 Bartter disease type 2 semapv:UnspecifiedMatching MONDO:0009424 Bartter disease type 2 skos:exactMatch MEDGEN:343428 semapv:UnspecifiedMatching MONDO:0009424 Bartter disease type 2 skos:exactMatch OMIM:241200 bartter syndrome, type 2, antenatal semapv:UnspecifiedMatching MONDO:0009424 Bartter disease type 2 skos:exactMatch Orphanet:620220 Bartter syndrome type 2 semapv:UnspecifiedMatching MONDO:0009424 Bartter disease type 2 skos:exactMatch SCTID:700109009 semapv:UnspecifiedMatching MONDO:0009424 Bartter disease type 2 skos:exactMatch UMLS:C1855849 semapv:UnspecifiedMatching MONDO:0009424 Bartter disease type 2 skos:exactMatch mesh:C537651 semapv:UnspecifiedMatching MONDO:0009425 hypomandibular faciocranial dysostosis skos:exactMatch MEDGEN:343427 semapv:UnspecifiedMatching MONDO:0009425 hypomandibular faciocranial dysostosis skos:exactMatch OMIM:241310 hypomandibular faciocranial dysostosis semapv:UnspecifiedMatching MONDO:0009425 hypomandibular faciocranial dysostosis skos:exactMatch Orphanet:1790 Hypomandibular faciocranial dysostosis semapv:UnspecifiedMatching MONDO:0009425 hypomandibular faciocranial dysostosis skos:exactMatch SCTID:721845005 semapv:UnspecifiedMatching MONDO:0009425 hypomandibular faciocranial dysostosis skos:exactMatch UMLS:C1855848 semapv:UnspecifiedMatching MONDO:0009425 hypomandibular faciocranial dysostosis skos:exactMatch mesh:C537154 semapv:UnspecifiedMatching MONDO:0009426 hypoparathyroidism-retardation-dysmorphism syndrome skos:exactMatch DOID:0060348 hypoparathyroidism-retardation-dysmorphism syndrome semapv:UnspecifiedMatching MONDO:0009426 hypoparathyroidism-retardation-dysmorphism syndrome skos:exactMatch MEDGEN:340984 semapv:UnspecifiedMatching MONDO:0009426 hypoparathyroidism-retardation-dysmorphism syndrome skos:exactMatch NCIT:C133727 Hypoparathyroidism-Retardation-Dysmorphism Syndrome semapv:UnspecifiedMatching MONDO:0009426 hypoparathyroidism-retardation-dysmorphism syndrome skos:exactMatch OMIM:241410 hypoparathyroidism-retardation-dysmorphism syndrome semapv:UnspecifiedMatching MONDO:0009426 hypoparathyroidism-retardation-dysmorphism syndrome skos:exactMatch Orphanet:2323 Sanjad-Sakati syndrome semapv:UnspecifiedMatching MONDO:0009426 hypoparathyroidism-retardation-dysmorphism syndrome skos:exactMatch UMLS:C1855840 semapv:UnspecifiedMatching MONDO:0009426 hypoparathyroidism-retardation-dysmorphism syndrome skos:exactMatch mesh:C537157 semapv:UnspecifiedMatching MONDO:0009429 hypophosphatemia, renal, with intracerebral calcifications skos:exactMatch MEDGEN:383776 semapv:UnspecifiedMatching MONDO:0009429 hypophosphatemia, renal, with intracerebral calcifications skos:exactMatch OMIM:241519 hypophosphatemia, renal, with intracerebral calcifications semapv:UnspecifiedMatching MONDO:0009429 hypophosphatemia, renal, with intracerebral calcifications skos:exactMatch UMLS:C1855809 semapv:UnspecifiedMatching MONDO:0009429 hypophosphatemia, renal, with intracerebral calcifications skos:exactMatch mesh:C565478 semapv:UnspecifiedMatching MONDO:0009430 hypophosphatemic rickets, autosomal recessive, 1 skos:exactMatch MEDGEN:1632314 semapv:UnspecifiedMatching MONDO:0009430 hypophosphatemic rickets, autosomal recessive, 1 skos:exactMatch OMIM:241520 hypophosphatemic rickets, autosomal recessive, 1 semapv:UnspecifiedMatching MONDO:0009430 hypophosphatemic rickets, autosomal recessive, 1 skos:exactMatch UMLS:C4551495 semapv:UnspecifiedMatching MONDO:0009430 hypophosphatemic rickets, autosomal recessive, 1 skos:exactMatch mesh:C562792 semapv:UnspecifiedMatching MONDO:0009431 hereditary hypophosphatemic rickets with hypercalciuria skos:exactMatch DOID:0050947 hereditary hypophosphatemic rickets with hypercalciuria semapv:UnspecifiedMatching MONDO:0009431 hereditary hypophosphatemic rickets with hypercalciuria skos:exactMatch MEDGEN:501133 semapv:UnspecifiedMatching MONDO:0009431 hereditary hypophosphatemic rickets with hypercalciuria skos:exactMatch NCIT:C131450 Hereditary Hypophosphatemic Rickets with Hypercalciuria semapv:UnspecifiedMatching MONDO:0009431 hereditary hypophosphatemic rickets with hypercalciuria skos:exactMatch OMIM:241530 hypophosphatemic rickets with hypercalciuria, hereditary semapv:UnspecifiedMatching MONDO:0009431 hereditary hypophosphatemic rickets with hypercalciuria skos:exactMatch Orphanet:157215 Hereditary hypophosphatemic rickets with hypercalciuria semapv:UnspecifiedMatching MONDO:0009431 hereditary hypophosphatemic rickets with hypercalciuria skos:exactMatch SCTID:237891005 semapv:UnspecifiedMatching MONDO:0009431 hereditary hypophosphatemic rickets with hypercalciuria skos:exactMatch UMLS:C1853271 semapv:UnspecifiedMatching MONDO:0009431 hereditary hypophosphatemic rickets with hypercalciuria skos:exactMatch mesh:C562793 semapv:UnspecifiedMatching MONDO:0009432 hypopituitarism, congenital, with central diabetes insipidus skos:exactMatch MEDGEN:340970 semapv:UnspecifiedMatching MONDO:0009432 hypopituitarism, congenital, with central diabetes insipidus skos:exactMatch OMIM:241540 hypopituitarism, congenital, with central diabetes insipidus semapv:UnspecifiedMatching MONDO:0009432 hypopituitarism, congenital, with central diabetes insipidus skos:exactMatch UMLS:C1855800 semapv:UnspecifiedMatching MONDO:0009432 hypopituitarism, congenital, with central diabetes insipidus skos:exactMatch mesh:C565477 semapv:UnspecifiedMatching MONDO:0009433 hypoplastic left heart syndrome 1 skos:exactMatch MEDGEN:1646779 semapv:UnspecifiedMatching MONDO:0009433 hypoplastic left heart syndrome 1 skos:exactMatch OMIM:241550 hypoplastic left heart syndrome 1 semapv:UnspecifiedMatching MONDO:0009433 hypoplastic left heart syndrome 1 skos:exactMatch UMLS:C4551854 semapv:UnspecifiedMatching MONDO:0009434 hypoproteinemia, hypercatabolic skos:exactMatch DOID:0111981 immunodeficiency 43 semapv:UnspecifiedMatching MONDO:0009434 hypoproteinemia, hypercatabolic skos:exactMatch MEDGEN:343422 semapv:UnspecifiedMatching MONDO:0009434 hypoproteinemia, hypercatabolic skos:exactMatch OMIM:241600 immunodeficiency 43 semapv:UnspecifiedMatching MONDO:0009434 hypoproteinemia, hypercatabolic skos:exactMatch UMLS:C1855796 semapv:UnspecifiedMatching MONDO:0009434 hypoproteinemia, hypercatabolic skos:exactMatch mesh:C565476 semapv:UnspecifiedMatching MONDO:0009435 hypospadias-intellectual disability, Goldblatt type syndrome skos:exactMatch MEDGEN:162896 semapv:UnspecifiedMatching MONDO:0009435 hypospadias-intellectual disability, Goldblatt type syndrome skos:exactMatch OMIM:241760 hypospadias-impaired intellectual development syndrome semapv:UnspecifiedMatching MONDO:0009435 hypospadias-intellectual disability, Goldblatt type syndrome skos:exactMatch Orphanet:2261 Hypospadias-intellectual disability, Goldblatt type syndrome semapv:UnspecifiedMatching MONDO:0009435 hypospadias-intellectual disability, Goldblatt type syndrome skos:exactMatch SCTID:716096005 semapv:UnspecifiedMatching MONDO:0009435 hypospadias-intellectual disability, Goldblatt type syndrome skos:exactMatch UMLS:C0795989 semapv:UnspecifiedMatching MONDO:0009435 hypospadias-intellectual disability, Goldblatt type syndrome skos:exactMatch mesh:C563067 semapv:UnspecifiedMatching MONDO:0009436 congenital hypothalamic hamartoma syndrome skos:exactMatch MEDGEN:1724922 semapv:UnspecifiedMatching MONDO:0009436 congenital hypothalamic hamartoma syndrome skos:exactMatch NCIT:C4385 Hypothalamic Hamartoma semapv:UnspecifiedMatching MONDO:0009436 congenital hypothalamic hamartoma syndrome skos:exactMatch OMIM:241800 pallister-hall-like syndrome semapv:UnspecifiedMatching MONDO:0009436 congenital hypothalamic hamartoma syndrome skos:exactMatch SCTID:237714006 semapv:UnspecifiedMatching MONDO:0009436 congenital hypothalamic hamartoma syndrome skos:exactMatch UMLS:C5435677 semapv:UnspecifiedMatching MONDO:0009436 congenital hypothalamic hamartoma syndrome skos:exactMatch icd11.foundation:2057991470 Congenital hypothalamic hamartoma syndrome semapv:UnspecifiedMatching MONDO:0009436 congenital hypothalamic hamartoma syndrome skos:exactMatch mesh:C537158 semapv:UnspecifiedMatching MONDO:0009437 Bamforth-Lazarus syndrome skos:exactMatch DOID:0050655 Bamforth-Lazarus syndrome semapv:UnspecifiedMatching MONDO:0009437 Bamforth-Lazarus syndrome skos:exactMatch MEDGEN:343420 semapv:UnspecifiedMatching MONDO:0009437 Bamforth-Lazarus syndrome skos:exactMatch OMIM:241850 bamforth-lazarus syndrome semapv:UnspecifiedMatching MONDO:0009437 Bamforth-Lazarus syndrome skos:exactMatch Orphanet:1226 Bamforth-Lazarus syndrome semapv:UnspecifiedMatching MONDO:0009437 Bamforth-Lazarus syndrome skos:exactMatch SCTID:722375007 semapv:UnspecifiedMatching MONDO:0009437 Bamforth-Lazarus syndrome skos:exactMatch UMLS:C1855794 semapv:UnspecifiedMatching MONDO:0009437 Bamforth-Lazarus syndrome skos:exactMatch icd11.foundation:1747690671 Bamforth-Lazarus syndrome semapv:UnspecifiedMatching MONDO:0009437 Bamforth-Lazarus syndrome skos:exactMatch mesh:C537901 semapv:UnspecifiedMatching MONDO:0009438 hypouricemia, hypercalcinuria, and decreased bone density skos:exactMatch MEDGEN:343419 semapv:UnspecifiedMatching MONDO:0009438 hypouricemia, hypercalcinuria, and decreased bone density skos:exactMatch OMIM:242050 hypouricemia, hypercalcinuria, and decreased bone density semapv:UnspecifiedMatching MONDO:0009438 hypouricemia, hypercalcinuria, and decreased bone density skos:exactMatch UMLS:C1855793 semapv:UnspecifiedMatching MONDO:0009438 hypouricemia, hypercalcinuria, and decreased bone density skos:exactMatch mesh:C565475 semapv:UnspecifiedMatching MONDO:0009439 autosomal recessive congenital ichthyosis 2 skos:exactMatch DOID:0060710 autosomal recessive congenital ichthyosis 2 semapv:UnspecifiedMatching MONDO:0009439 autosomal recessive congenital ichthyosis 2 skos:exactMatch MEDGEN:854762 semapv:UnspecifiedMatching MONDO:0009439 autosomal recessive congenital ichthyosis 2 skos:exactMatch NCIT:C132827 Autosomal Recessive Congenital Ichthyosis 2 semapv:UnspecifiedMatching MONDO:0009439 autosomal recessive congenital ichthyosis 2 skos:exactMatch OMIM:242100 ichthyosis, congenital, autosomal recessive 2 semapv:UnspecifiedMatching MONDO:0009439 autosomal recessive congenital ichthyosis 2 skos:exactMatch UMLS:C3888093 semapv:UnspecifiedMatching MONDO:0009440 ichthyosiform erythroderma, corneal involvement, and hearing loss skos:exactMatch MEDGEN:224809 semapv:UnspecifiedMatching MONDO:0009440 ichthyosiform erythroderma, corneal involvement, and hearing loss skos:exactMatch OMIM:242150 keratitis-ichthyosis-deafness syndrome, autosomal recessive semapv:UnspecifiedMatching MONDO:0009440 ichthyosiform erythroderma, corneal involvement, and hearing loss skos:exactMatch SCTID:403780007 semapv:UnspecifiedMatching MONDO:0009440 ichthyosiform erythroderma, corneal involvement, and hearing loss skos:exactMatch UMLS:C1275089 semapv:UnspecifiedMatching MONDO:0009440 ichthyosiform erythroderma, corneal involvement, and hearing loss skos:exactMatch mesh:C537363 semapv:UnspecifiedMatching MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:exactMatch DOID:0060656 autosomal recessive congenital ichthyosis 1 semapv:UnspecifiedMatching MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:exactMatch MEDGEN:1635401 semapv:UnspecifiedMatching MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:exactMatch OMIM:242300 ichthyosis, congenital, autosomal recessive 1 semapv:UnspecifiedMatching MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:exactMatch UMLS:C4551630 semapv:UnspecifiedMatching MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:exactMatch mesh:D017490 semapv:UnspecifiedMatching MONDO:0009442 ichthyosis congenita with biliary atresia skos:exactMatch MEDGEN:140780 semapv:UnspecifiedMatching MONDO:0009442 ichthyosis congenita with biliary atresia skos:exactMatch OMIM:242400 ichthyosis congenita with biliary atresia semapv:UnspecifiedMatching MONDO:0009442 ichthyosis congenita with biliary atresia skos:exactMatch SCTID:235916001 semapv:UnspecifiedMatching MONDO:0009442 ichthyosis congenita with biliary atresia skos:exactMatch UMLS:C0400974 semapv:UnspecifiedMatching MONDO:0009442 ichthyosis congenita with biliary atresia skos:exactMatch mesh:C562886 semapv:UnspecifiedMatching MONDO:0009443 autosomal recessive congenital ichthyosis 4B skos:exactMatch DOID:0060713 autosomal recessive congenital ichthyosis 4B semapv:UnspecifiedMatching MONDO:0009443 autosomal recessive congenital ichthyosis 4B skos:exactMatch MEDGEN:108615 semapv:UnspecifiedMatching MONDO:0009443 autosomal recessive congenital ichthyosis 4B skos:exactMatch NCIT:C98934 Harlequin Ichthyosis semapv:UnspecifiedMatching MONDO:0009443 autosomal recessive congenital ichthyosis 4B skos:exactMatch OMIM:242500 ichthyosis, congenital, autosomal recessive 4b semapv:UnspecifiedMatching MONDO:0009443 autosomal recessive congenital ichthyosis 4B skos:exactMatch Orphanet:457 Harlequin ichthyosis semapv:UnspecifiedMatching MONDO:0009443 autosomal recessive congenital ichthyosis 4B skos:exactMatch SCTID:205548006 semapv:UnspecifiedMatching MONDO:0009443 autosomal recessive congenital ichthyosis 4B skos:exactMatch UMLS:C0598226 semapv:UnspecifiedMatching MONDO:0009444 ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome skos:exactMatch MEDGEN:344577 semapv:UnspecifiedMatching MONDO:0009444 ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome skos:exactMatch OMIM:242510 ichthyosis with alopecia, eclabium, ectropion, and impaired intellectual development semapv:UnspecifiedMatching MONDO:0009444 ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome skos:exactMatch Orphanet:2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0009444 ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome skos:exactMatch UMLS:C1855788 semapv:UnspecifiedMatching MONDO:0009444 ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome skos:exactMatch mesh:C537364 semapv:UnspecifiedMatching MONDO:0009445 ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome skos:exactMatch MEDGEN:266150 semapv:UnspecifiedMatching MONDO:0009445 ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome skos:exactMatch OMIM:242520 ichthyosis, hepatosplenomegaly, and cerebellar degeneration semapv:UnspecifiedMatching MONDO:0009445 ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome skos:exactMatch Orphanet:2274 Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome semapv:UnspecifiedMatching MONDO:0009445 ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome skos:exactMatch SCTID:403779009 semapv:UnspecifiedMatching MONDO:0009445 ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome skos:exactMatch UMLS:C1275088 semapv:UnspecifiedMatching MONDO:0009445 ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome skos:exactMatch mesh:C535727 semapv:UnspecifiedMatching MONDO:0009446 ichthyosis-intellectual disability-dwarfism-renal impairment syndrome skos:exactMatch MEDGEN:340966 semapv:UnspecifiedMatching MONDO:0009446 ichthyosis-intellectual disability-dwarfism-renal impairment syndrome skos:exactMatch OMIM:242530 ichthyosis, impaired intellectual development, dwarfism, and renal impairment semapv:UnspecifiedMatching MONDO:0009446 ichthyosis-intellectual disability-dwarfism-renal impairment syndrome skos:exactMatch Orphanet:2278 Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome semapv:UnspecifiedMatching MONDO:0009446 ichthyosis-intellectual disability-dwarfism-renal impairment syndrome skos:exactMatch UMLS:C1855787 semapv:UnspecifiedMatching MONDO:0009446 ichthyosis-intellectual disability-dwarfism-renal impairment syndrome skos:exactMatch mesh:C536274 semapv:UnspecifiedMatching MONDO:0009447 ichthyosis, split hairs, and amino aciduria skos:exactMatch MEDGEN:344576 semapv:UnspecifiedMatching MONDO:0009447 ichthyosis, split hairs, and amino aciduria skos:exactMatch OMIM:242550 ichthyosis, split hairs, and amino aciduria semapv:UnspecifiedMatching MONDO:0009447 ichthyosis, split hairs, and amino aciduria skos:exactMatch UMLS:C1855786 semapv:UnspecifiedMatching MONDO:0009447 ichthyosis, split hairs, and amino aciduria skos:exactMatch mesh:C565471 semapv:UnspecifiedMatching MONDO:0009448 iminoglycinuria skos:exactMatch DOID:0112265 iminoglycinuria semapv:UnspecifiedMatching MONDO:0009448 iminoglycinuria skos:exactMatch MEDGEN:124342 semapv:UnspecifiedMatching MONDO:0009448 iminoglycinuria skos:exactMatch OMIM:242600 iminoglycinuria semapv:UnspecifiedMatching MONDO:0009448 iminoglycinuria skos:exactMatch Orphanet:42062 Iminoglycinuria semapv:UnspecifiedMatching MONDO:0009448 iminoglycinuria skos:exactMatch SCTID:84121007 semapv:UnspecifiedMatching MONDO:0009448 iminoglycinuria skos:exactMatch UMLS:C0268654 semapv:UnspecifiedMatching MONDO:0009448 iminoglycinuria skos:exactMatch icd11.foundation:664428532 Iminoglycinuria semapv:UnspecifiedMatching MONDO:0009448 iminoglycinuria skos:exactMatch mesh:C536285 semapv:UnspecifiedMatching MONDO:0009449 ciliary dyskinesia with defective radial spokes skos:exactMatch MEDGEN:137933 semapv:UnspecifiedMatching MONDO:0009449 ciliary dyskinesia with defective radial spokes skos:exactMatch OMIM:242670 ciliary dyskinesia with defective radial spokes semapv:UnspecifiedMatching MONDO:0009449 ciliary dyskinesia with defective radial spokes skos:exactMatch SCTID:233664005 semapv:UnspecifiedMatching MONDO:0009449 ciliary dyskinesia with defective radial spokes skos:exactMatch UMLS:C0340035 semapv:UnspecifiedMatching MONDO:0009449 ciliary dyskinesia with defective radial spokes skos:exactMatch mesh:C536286 semapv:UnspecifiedMatching MONDO:0009450 ciliary dyskinesia with excessively long cilia skos:exactMatch MEDGEN:90947 semapv:UnspecifiedMatching MONDO:0009450 ciliary dyskinesia with excessively long cilia skos:exactMatch OMIM:242680 ciliary dyskinesia with excessively long cilia semapv:UnspecifiedMatching MONDO:0009450 ciliary dyskinesia with excessively long cilia skos:exactMatch SCTID:233665006 semapv:UnspecifiedMatching MONDO:0009450 ciliary dyskinesia with excessively long cilia skos:exactMatch UMLS:C0340036 semapv:UnspecifiedMatching MONDO:0009450 ciliary dyskinesia with excessively long cilia skos:exactMatch mesh:C536287 semapv:UnspecifiedMatching MONDO:0009451 Nezelof syndrome skos:exactMatch DOID:2012 Nezelof syndrome semapv:UnspecifiedMatching MONDO:0009451 Nezelof syndrome skos:exactMatch ICD10CM:D81.4 Nezelof's syndrome semapv:UnspecifiedMatching MONDO:0009451 Nezelof syndrome skos:exactMatch MEDGEN:101814 semapv:UnspecifiedMatching MONDO:0009451 Nezelof syndrome skos:exactMatch OMIM:242700 t-cell immunodeficiency with thymic aplasia semapv:UnspecifiedMatching MONDO:0009451 Nezelof syndrome skos:exactMatch Orphanet:83471 T-cell immunodeficiency with thymic aplasia semapv:UnspecifiedMatching MONDO:0009451 Nezelof syndrome skos:exactMatch SCTID:55602000 semapv:UnspecifiedMatching MONDO:0009451 Nezelof syndrome skos:exactMatch UMLS:C0152094 semapv:UnspecifiedMatching MONDO:0009451 Nezelof syndrome skos:exactMatch icd11.foundation:215376282 Nezelof syndrome semapv:UnspecifiedMatching MONDO:0009451 Nezelof syndrome skos:exactMatch mesh:C536288 semapv:UnspecifiedMatching MONDO:0009452 Vici syndrome skos:exactMatch DOID:0060356 Vici syndrome semapv:UnspecifiedMatching MONDO:0009452 Vici syndrome skos:exactMatch MEDGEN:340962 semapv:UnspecifiedMatching MONDO:0009452 Vici syndrome skos:exactMatch NCIT:C138174 Vici Syndrome semapv:UnspecifiedMatching MONDO:0009452 Vici syndrome skos:exactMatch OMIM:242840 vici syndrome semapv:UnspecifiedMatching MONDO:0009452 Vici syndrome skos:exactMatch Orphanet:1493 Vici syndrome semapv:UnspecifiedMatching MONDO:0009452 Vici syndrome skos:exactMatch SCTID:719824001 semapv:UnspecifiedMatching MONDO:0009452 Vici syndrome skos:exactMatch UMLS:C1855772 semapv:UnspecifiedMatching MONDO:0009452 Vici syndrome skos:exactMatch mesh:C535566 semapv:UnspecifiedMatching MONDO:0009453 obsolete immune deficiency disease skos:exactMatch OMIM:242850 immune deficiency disease semapv:UnspecifiedMatching MONDO:0009453 obsolete immune deficiency disease skos:exactMatch mesh:C565469 semapv:UnspecifiedMatching MONDO:0009454 immunodeficiency-centromeric instability-facial anomalies syndrome 1 skos:exactMatch DOID:0090008 immunodeficiency-centromeric instability-facial anomalies syndrome 1 semapv:UnspecifiedMatching MONDO:0009454 immunodeficiency-centromeric instability-facial anomalies syndrome 1 skos:exactMatch MEDGEN:1636193 semapv:UnspecifiedMatching MONDO:0009454 immunodeficiency-centromeric instability-facial anomalies syndrome 1 skos:exactMatch NCIT:C156430 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 semapv:UnspecifiedMatching MONDO:0009454 immunodeficiency-centromeric instability-facial anomalies syndrome 1 skos:exactMatch OMIM:242860 immunodeficiency-centromeric instability-facial anomalies syndrome 1 semapv:UnspecifiedMatching MONDO:0009454 immunodeficiency-centromeric instability-facial anomalies syndrome 1 skos:exactMatch UMLS:C4551557 semapv:UnspecifiedMatching MONDO:0009455 obsolete immunodeficiency, partial combined, with absence of HLA Determinants and beta-2-microglobulin from lymphocytes skos:exactMatch OMIM:242870 semapv:UnspecifiedMatching MONDO:0009455 obsolete immunodeficiency, partial combined, with absence of HLA Determinants and beta-2-microglobulin from lymphocytes skos:exactMatch mesh:C565468 semapv:UnspecifiedMatching MONDO:0009456 Immunoerythromyeloid hypoplasia skos:exactMatch OMIM:242880 immunoerythromyeloid hypoplasia semapv:UnspecifiedMatching MONDO:0009457 immunoglobulin d level in plasma, low skos:exactMatch MEDGEN:344569 semapv:UnspecifiedMatching MONDO:0009457 immunoglobulin d level in plasma, low skos:exactMatch OMIM:242890 immunoglobulin d level 1n plasma, low semapv:UnspecifiedMatching MONDO:0009457 immunoglobulin d level in plasma, low skos:exactMatch UMLS:C1855761 semapv:UnspecifiedMatching MONDO:0009458 Schimke immuno-osseous dysplasia skos:exactMatch DOID:0060490 Schimke immuno-osseous dysplasia semapv:UnspecifiedMatching MONDO:0009458 Schimke immuno-osseous dysplasia skos:exactMatch MEDGEN:164078 semapv:UnspecifiedMatching MONDO:0009458 Schimke immuno-osseous dysplasia skos:exactMatch NCIT:C135087 Schimke Immunoosseous Dysplasia semapv:UnspecifiedMatching MONDO:0009458 Schimke immuno-osseous dysplasia skos:exactMatch OMIM:242900 schimke immunoosseous dysplasia semapv:UnspecifiedMatching MONDO:0009458 Schimke immuno-osseous dysplasia skos:exactMatch Orphanet:1830 Schimke immuno-osseous dysplasia semapv:UnspecifiedMatching MONDO:0009458 Schimke immuno-osseous dysplasia skos:exactMatch SCTID:723995003 semapv:UnspecifiedMatching MONDO:0009458 Schimke immuno-osseous dysplasia skos:exactMatch UMLS:C0877024 semapv:UnspecifiedMatching MONDO:0009458 Schimke immuno-osseous dysplasia skos:exactMatch icd11.foundation:2002226225 Schimke immuno-osseous dysplasia semapv:UnspecifiedMatching MONDO:0009458 Schimke immuno-osseous dysplasia skos:exactMatch mesh:C536629 semapv:UnspecifiedMatching MONDO:0009459 channelopathy-associated congenital insensitivity to pain, autosomal recessive skos:exactMatch MEDGEN:344563 semapv:UnspecifiedMatching MONDO:0009459 channelopathy-associated congenital insensitivity to pain, autosomal recessive skos:exactMatch OMIM:243000 indifference to pain, congenital, autosomal recessive semapv:UnspecifiedMatching MONDO:0009459 channelopathy-associated congenital insensitivity to pain, autosomal recessive skos:exactMatch Orphanet:88642 Congenital insensitivity to pain-anosmia-neuropathic arthropathy semapv:UnspecifiedMatching MONDO:0009459 channelopathy-associated congenital insensitivity to pain, autosomal recessive skos:exactMatch UMLS:C1855739 semapv:UnspecifiedMatching MONDO:0009460 indolylacroyl glycinuria with intellectual disability skos:exactMatch MEDGEN:340949 semapv:UnspecifiedMatching MONDO:0009460 indolylacroyl glycinuria with intellectual disability skos:exactMatch OMIM:243050 indolylacroyl glycinuria with impaired intellectual development semapv:UnspecifiedMatching MONDO:0009460 indolylacroyl glycinuria with intellectual disability skos:exactMatch UMLS:C1855738 semapv:UnspecifiedMatching MONDO:0009460 indolylacroyl glycinuria with intellectual disability skos:exactMatch mesh:C565466 semapv:UnspecifiedMatching MONDO:0009461 spermatogenic failure 5 skos:exactMatch DOID:0070183 spermatogenic failure 5 semapv:UnspecifiedMatching MONDO:0009461 spermatogenic failure 5 skos:exactMatch MEDGEN:98020 semapv:UnspecifiedMatching MONDO:0009461 spermatogenic failure 5 skos:exactMatch OMIM:243060 spermatogenic failure 5 semapv:UnspecifiedMatching MONDO:0009461 spermatogenic failure 5 skos:exactMatch Orphanet:137893 Male infertility due to large-headed multiflagellar polyploid spermatozoa semapv:UnspecifiedMatching MONDO:0009461 spermatogenic failure 5 skos:exactMatch SCTID:236806004 semapv:UnspecifiedMatching MONDO:0009461 spermatogenic failure 5 skos:exactMatch UMLS:C0403812 semapv:UnspecifiedMatching MONDO:0009461 spermatogenic failure 5 skos:exactMatch mesh:C562903 semapv:UnspecifiedMatching MONDO:0009462 inosine phosphorylase deficiency, immune defect due to skos:exactMatch MEDGEN:344562 semapv:UnspecifiedMatching MONDO:0009462 inosine phosphorylase deficiency, immune defect due to skos:exactMatch OMIM:243080 inosine phosphorylase deficiency, immune defect due to semapv:UnspecifiedMatching MONDO:0009462 inosine phosphorylase deficiency, immune defect due to skos:exactMatch UMLS:C1855737 semapv:UnspecifiedMatching MONDO:0009462 inosine phosphorylase deficiency, immune defect due to skos:exactMatch mesh:C565465 semapv:UnspecifiedMatching MONDO:0009463 internal carotid arteries, hypoplasia of skos:exactMatch MEDGEN:383757 semapv:UnspecifiedMatching MONDO:0009463 internal carotid arteries, hypoplasia of skos:exactMatch OMIM:243100 internal carotid arteries, hypoplasia of semapv:UnspecifiedMatching MONDO:0009463 internal carotid arteries, hypoplasia of skos:exactMatch UMLS:C1855736 semapv:UnspecifiedMatching MONDO:0009464 immunodeficiency with defective T-cell response to interleukin 1 skos:exactMatch MEDGEN:340948 semapv:UnspecifiedMatching MONDO:0009464 immunodeficiency with defective T-cell response to interleukin 1 skos:exactMatch OMIM:243110 immunodeficiency with defective t-cell response to interleukin 1 semapv:UnspecifiedMatching MONDO:0009464 immunodeficiency with defective T-cell response to interleukin 1 skos:exactMatch UMLS:C1855735 semapv:UnspecifiedMatching MONDO:0009465 multiple intestinal atresia skos:exactMatch MEDGEN:65090 semapv:UnspecifiedMatching MONDO:0009465 multiple intestinal atresia skos:exactMatch Orphanet:2300 Isolated multiple intestinal atresia semapv:UnspecifiedMatching MONDO:0009465 multiple intestinal atresia skos:exactMatch SCTID:95472001 semapv:UnspecifiedMatching MONDO:0009465 multiple intestinal atresia skos:exactMatch UMLS:C0220744 semapv:UnspecifiedMatching MONDO:0009467 natal teeth-intestinal pseudoobstruction-patent ductus syndrome skos:exactMatch MEDGEN:340945 semapv:UnspecifiedMatching MONDO:0009467 natal teeth-intestinal pseudoobstruction-patent ductus syndrome skos:exactMatch OMIM:243185 intestinal pseudoobstruction with patent ductus arteriosus and natal teeth semapv:UnspecifiedMatching MONDO:0009467 natal teeth-intestinal pseudoobstruction-patent ductus syndrome skos:exactMatch UMLS:C1855732 semapv:UnspecifiedMatching MONDO:0009467 natal teeth-intestinal pseudoobstruction-patent ductus syndrome skos:exactMatch mesh:C538341 semapv:UnspecifiedMatching MONDO:0009468 pseudotumor cerebri skos:exactMatch DOID:11459 pseudotumor cerebri semapv:UnspecifiedMatching MONDO:0009468 pseudotumor cerebri skos:exactMatch EFO:1001132 semapv:UnspecifiedMatching MONDO:0009468 pseudotumor cerebri skos:exactMatch ICD10CM:G93.2 Benign intracranial hypertension semapv:UnspecifiedMatching MONDO:0009468 pseudotumor cerebri skos:exactMatch MEDGEN:18732 semapv:UnspecifiedMatching MONDO:0009468 pseudotumor cerebri skos:exactMatch NCIT:C85035 Pseudotumor Cerebri semapv:UnspecifiedMatching MONDO:0009468 pseudotumor cerebri skos:exactMatch OMIM:243200 intracranial hypertension, idiopathic semapv:UnspecifiedMatching MONDO:0009468 pseudotumor cerebri skos:exactMatch Orphanet:238624 Idiopathic intracranial hypertension semapv:UnspecifiedMatching MONDO:0009468 pseudotumor cerebri skos:exactMatch SCTID:68267002 semapv:UnspecifiedMatching MONDO:0009468 pseudotumor cerebri skos:exactMatch UMLS:C0033845 semapv:UnspecifiedMatching MONDO:0009468 pseudotumor cerebri skos:exactMatch icd11.foundation:815670637 Idiopathic intracranial hypertension semapv:UnspecifiedMatching MONDO:0009468 pseudotumor cerebri skos:exactMatch mesh:D011559 semapv:UnspecifiedMatching MONDO:0009469 benign recurrent intrahepatic cholestasis type 1 skos:exactMatch DOID:0070231 benign recurrent intrahepatic cholestasis 1 semapv:UnspecifiedMatching MONDO:0009469 benign recurrent intrahepatic cholestasis type 1 skos:exactMatch MEDGEN:1637492 semapv:UnspecifiedMatching MONDO:0009469 benign recurrent intrahepatic cholestasis type 1 skos:exactMatch OMIM:243300 cholestasis, benign recurrent intrahepatic, 1 semapv:UnspecifiedMatching MONDO:0009469 benign recurrent intrahepatic cholestasis type 1 skos:exactMatch Orphanet:99960 Benign recurrent intrahepatic cholestasis type 1 semapv:UnspecifiedMatching MONDO:0009469 benign recurrent intrahepatic cholestasis type 1 skos:exactMatch UMLS:C4551899 semapv:UnspecifiedMatching MONDO:0009470 Baraitser-Winter syndrome 1 skos:exactMatch DOID:0081112 Baraitser-Winter syndrome 1 semapv:UnspecifiedMatching MONDO:0009470 Baraitser-Winter syndrome 1 skos:exactMatch MEDGEN:340943 semapv:UnspecifiedMatching MONDO:0009470 Baraitser-Winter syndrome 1 skos:exactMatch OMIM:243310 baraitser-winter syndrome 1 semapv:UnspecifiedMatching MONDO:0009470 Baraitser-Winter syndrome 1 skos:exactMatch UMLS:C1855722 semapv:UnspecifiedMatching MONDO:0009471 intrinsic factor and r binder, combined congenital deficiency of skos:exactMatch MEDGEN:340942 semapv:UnspecifiedMatching MONDO:0009471 intrinsic factor and r binder, combined congenital deficiency of skos:exactMatch OMIM:243320 intrinsic factor and r binder, combined congenital deficiency of semapv:UnspecifiedMatching MONDO:0009471 intrinsic factor and r binder, combined congenital deficiency of skos:exactMatch UMLS:C1855721 semapv:UnspecifiedMatching MONDO:0009471 intrinsic factor and r binder, combined congenital deficiency of skos:exactMatch mesh:C565461 semapv:UnspecifiedMatching MONDO:0009472 acetylation, slow skos:exactMatch MEDGEN:164207 semapv:UnspecifiedMatching MONDO:0009472 acetylation, slow skos:exactMatch OMIM:243400 acetylation, slow semapv:UnspecifiedMatching MONDO:0009472 acetylation, slow skos:exactMatch UMLS:C0878587 semapv:UnspecifiedMatching MONDO:0009473 isotretinoin-like syndrome skos:exactMatch MEDGEN:96600 semapv:UnspecifiedMatching MONDO:0009473 isotretinoin-like syndrome skos:exactMatch OMIM:243440 isotretinoin embryopathy-like syndrome semapv:UnspecifiedMatching MONDO:0009473 isotretinoin-like syndrome skos:exactMatch Orphanet:2306 Isotretinoin-like syndrome semapv:UnspecifiedMatching MONDO:0009473 isotretinoin-like syndrome skos:exactMatch SCTID:722006004 semapv:UnspecifiedMatching MONDO:0009473 isotretinoin-like syndrome skos:exactMatch UMLS:C0432364 semapv:UnspecifiedMatching MONDO:0009473 isotretinoin-like syndrome skos:exactMatch mesh:C535542 semapv:UnspecifiedMatching MONDO:0009474 isovaleric acid, inability to smell skos:exactMatch MEDGEN:383751 semapv:UnspecifiedMatching MONDO:0009474 isovaleric acid, inability to smell skos:exactMatch OMIM:243450 isovaleric acid, inability to smell semapv:UnspecifiedMatching MONDO:0009474 isovaleric acid, inability to smell skos:exactMatch UMLS:C1855714 semapv:UnspecifiedMatching MONDO:0009475 isovaleric acidemia skos:exactMatch DOID:14753 isovaleric acidemia semapv:UnspecifiedMatching MONDO:0009475 isovaleric acidemia skos:exactMatch ICD10CM:E71.110 Isovaleric acidemia semapv:UnspecifiedMatching MONDO:0009475 isovaleric acidemia skos:exactMatch MEDGEN:82822 semapv:UnspecifiedMatching MONDO:0009475 isovaleric acidemia skos:exactMatch NCIT:C98964 Isovaleric Acidemia semapv:UnspecifiedMatching MONDO:0009475 isovaleric acidemia skos:exactMatch OMIM:243500 isovaleric acidemia semapv:UnspecifiedMatching MONDO:0009475 isovaleric acidemia skos:exactMatch Orphanet:33 Isovaleric acidemia semapv:UnspecifiedMatching MONDO:0009475 isovaleric acidemia skos:exactMatch SCTID:87827003 semapv:UnspecifiedMatching MONDO:0009475 isovaleric acidemia skos:exactMatch UMLS:C0268575 semapv:UnspecifiedMatching MONDO:0009475 isovaleric acidemia skos:exactMatch mesh:C538167 semapv:UnspecifiedMatching MONDO:0009476 atresia of small intestine skos:exactMatch MEDGEN:78590 semapv:UnspecifiedMatching MONDO:0009476 atresia of small intestine skos:exactMatch NCIT:C98828 Small Intestine Atresia semapv:UnspecifiedMatching MONDO:0009476 atresia of small intestine skos:exactMatch OMIM:243600 jejunal atresia semapv:UnspecifiedMatching MONDO:0009476 atresia of small intestine skos:exactMatch Orphanet:1201 Small bowel atresia semapv:UnspecifiedMatching MONDO:0009476 atresia of small intestine skos:exactMatch UMLS:C0266172 semapv:UnspecifiedMatching MONDO:0009476 atresia of small intestine skos:exactMatch icd11.foundation:1949256262 Atresia of small intestine semapv:UnspecifiedMatching MONDO:0009476 atresia of small intestine skos:exactMatch mesh:C538260 semapv:UnspecifiedMatching MONDO:0009477 Stromme syndrome skos:exactMatch DOID:0110595 Stromme syndrome semapv:UnspecifiedMatching MONDO:0009477 Stromme syndrome skos:exactMatch EFO:0009160 semapv:UnspecifiedMatching MONDO:0009477 Stromme syndrome skos:exactMatch MEDGEN:340938 semapv:UnspecifiedMatching MONDO:0009477 Stromme syndrome skos:exactMatch OMIM:243605 stromme syndrome semapv:UnspecifiedMatching MONDO:0009477 Stromme syndrome skos:exactMatch Orphanet:444069 Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome semapv:UnspecifiedMatching MONDO:0009477 Stromme syndrome skos:exactMatch Orphanet:506307 Stromme syndrome semapv:UnspecifiedMatching MONDO:0009477 Stromme syndrome skos:exactMatch UMLS:C1855705 semapv:UnspecifiedMatching MONDO:0009477 Stromme syndrome skos:exactMatch mesh:C565460 semapv:UnspecifiedMatching MONDO:0009478 combined immunodeficiency due to DOCK8 deficiency skos:exactMatch DOID:0080594 hyper IgE recurrent infection syndrome 2 semapv:UnspecifiedMatching MONDO:0009478 combined immunodeficiency due to DOCK8 deficiency skos:exactMatch MEDGEN:1648410 semapv:UnspecifiedMatching MONDO:0009478 combined immunodeficiency due to DOCK8 deficiency skos:exactMatch NCIT:C126343 DOCK8 Deficiency semapv:UnspecifiedMatching MONDO:0009478 combined immunodeficiency due to DOCK8 deficiency skos:exactMatch OMIM:243700 hyper-ige syndrome 2, autosomal recessive, with recurrent infections semapv:UnspecifiedMatching MONDO:0009478 combined immunodeficiency due to DOCK8 deficiency skos:exactMatch Orphanet:217390 Combined immunodeficiency due to DOCK8 deficiency semapv:UnspecifiedMatching MONDO:0009478 combined immunodeficiency due to DOCK8 deficiency skos:exactMatch UMLS:C4722305 semapv:UnspecifiedMatching MONDO:0009478 combined immunodeficiency due to DOCK8 deficiency skos:exactMatch icd11.foundation:136043326 Combined immunodeficiency due to DOCK8 deficiency semapv:UnspecifiedMatching MONDO:0009479 Johanson-Blizzard syndrome skos:exactMatch DOID:14694 Johanson-Blizzard syndrome semapv:UnspecifiedMatching MONDO:0009479 Johanson-Blizzard syndrome skos:exactMatch MEDGEN:59798 semapv:UnspecifiedMatching MONDO:0009479 Johanson-Blizzard syndrome skos:exactMatch OMIM:243800 johanson-blizzard syndrome semapv:UnspecifiedMatching MONDO:0009479 Johanson-Blizzard syndrome skos:exactMatch Orphanet:2315 Johanson-Blizzard syndrome semapv:UnspecifiedMatching MONDO:0009479 Johanson-Blizzard syndrome skos:exactMatch SCTID:75979009 semapv:UnspecifiedMatching MONDO:0009479 Johanson-Blizzard syndrome skos:exactMatch UMLS:C0175692 semapv:UnspecifiedMatching MONDO:0009479 Johanson-Blizzard syndrome skos:exactMatch icd11.foundation:1427330812 Johanson-Blizzard syndrome semapv:UnspecifiedMatching MONDO:0009479 Johanson-Blizzard syndrome skos:exactMatch mesh:C535880 semapv:UnspecifiedMatching MONDO:0009479 Johanson-Blizzard syndrome skos:exactMatch mesh:C564907 semapv:UnspecifiedMatching MONDO:0009480 Joubert syndrome with oculorenal defect skos:exactMatch MEDGEN:340930 semapv:UnspecifiedMatching MONDO:0009480 Joubert syndrome with oculorenal defect skos:exactMatch OMIM:243910 arima syndrome semapv:UnspecifiedMatching MONDO:0009480 Joubert syndrome with oculorenal defect skos:exactMatch Orphanet:2318 Joubert syndrome with oculorenal defect semapv:UnspecifiedMatching MONDO:0009480 Joubert syndrome with oculorenal defect skos:exactMatch SCTID:721862000 semapv:UnspecifiedMatching MONDO:0009480 Joubert syndrome with oculorenal defect skos:exactMatch UMLS:C1855675 semapv:UnspecifiedMatching MONDO:0009480 Joubert syndrome with oculorenal defect skos:exactMatch icd11.foundation:397835469 Joubert syndrome with oculorenal defect semapv:UnspecifiedMatching MONDO:0009480 Joubert syndrome with oculorenal defect skos:exactMatch mesh:C537430 semapv:UnspecifiedMatching MONDO:0009481 Jumping Frenchmen of Maine skos:exactMatch MEDGEN:224824 semapv:UnspecifiedMatching MONDO:0009481 Jumping Frenchmen of Maine skos:exactMatch OMIM:244100 jumping frenchmen of maine semapv:UnspecifiedMatching MONDO:0009481 Jumping Frenchmen of Maine skos:exactMatch UMLS:C1280764 semapv:UnspecifiedMatching MONDO:0009482 hypogonadotropic hypogonadism 3 with or without anosmia skos:exactMatch DOID:0090092 hypogonadotropic hypogonadism 3 with or without anosmia semapv:UnspecifiedMatching MONDO:0009482 hypogonadotropic hypogonadism 3 with or without anosmia skos:exactMatch MEDGEN:763392 semapv:UnspecifiedMatching MONDO:0009482 hypogonadotropic hypogonadism 3 with or without anosmia skos:exactMatch OMIM:244200 hypogonadotropic hypogonadism 3 with or without anosmia semapv:UnspecifiedMatching MONDO:0009482 hypogonadotropic hypogonadism 3 with or without anosmia skos:exactMatch UMLS:C3550478 semapv:UnspecifiedMatching MONDO:0009483 Kapur-Toriello syndrome skos:exactMatch MEDGEN:208654 semapv:UnspecifiedMatching MONDO:0009483 Kapur-Toriello syndrome skos:exactMatch OMIM:244300 kapur-toriello syndrome semapv:UnspecifiedMatching MONDO:0009483 Kapur-Toriello syndrome skos:exactMatch Orphanet:2328 Kapur-Toriello syndrome semapv:UnspecifiedMatching MONDO:0009483 Kapur-Toriello syndrome skos:exactMatch SCTID:722031003 semapv:UnspecifiedMatching MONDO:0009483 Kapur-Toriello syndrome skos:exactMatch UMLS:C0796005 semapv:UnspecifiedMatching MONDO:0009483 Kapur-Toriello syndrome skos:exactMatch mesh:C537008 semapv:UnspecifiedMatching MONDO:0009484 primary ciliary dyskinesia 1 skos:exactMatch DOID:0110594 primary ciliary dyskinesia 1 semapv:UnspecifiedMatching MONDO:0009484 primary ciliary dyskinesia 1 skos:exactMatch MEDGEN:1646059 semapv:UnspecifiedMatching MONDO:0009484 primary ciliary dyskinesia 1 skos:exactMatch NCIT:C128117 Primary Ciliary Dyskinesia 1 semapv:UnspecifiedMatching MONDO:0009484 primary ciliary dyskinesia 1 skos:exactMatch OMIM:244400 ciliary dyskinesia, primary, 1 semapv:UnspecifiedMatching MONDO:0009484 primary ciliary dyskinesia 1 skos:exactMatch UMLS:C4551906 semapv:UnspecifiedMatching MONDO:0009485 oculocerebrofacial syndrome, Kaufman type skos:exactMatch DOID:0111456 Kaufman oculocerebrofacial syndrome semapv:UnspecifiedMatching MONDO:0009485 oculocerebrofacial syndrome, Kaufman type skos:exactMatch MEDGEN:343403 semapv:UnspecifiedMatching MONDO:0009485 oculocerebrofacial syndrome, Kaufman type skos:exactMatch OMIM:244450 kaufman oculocerebrofacial syndrome semapv:UnspecifiedMatching MONDO:0009485 oculocerebrofacial syndrome, Kaufman type skos:exactMatch Orphanet:2707 Oculocerebrofacial syndrome, Kaufman type semapv:UnspecifiedMatching MONDO:0009485 oculocerebrofacial syndrome, Kaufman type skos:exactMatch SCTID:722056009 semapv:UnspecifiedMatching MONDO:0009485 oculocerebrofacial syndrome, Kaufman type skos:exactMatch UMLS:C1855663 semapv:UnspecifiedMatching MONDO:0009485 oculocerebrofacial syndrome, Kaufman type skos:exactMatch mesh:C537013 semapv:UnspecifiedMatching MONDO:0009486 autosomal recessive Kenny-Caffey syndrome skos:exactMatch DOID:0080722 Kenny-Caffey syndrome type 1 semapv:UnspecifiedMatching MONDO:0009486 autosomal recessive Kenny-Caffey syndrome skos:exactMatch MEDGEN:340923 semapv:UnspecifiedMatching MONDO:0009486 autosomal recessive Kenny-Caffey syndrome skos:exactMatch NCIT:C130992 Kenny-Caffey Syndrome Type 1 semapv:UnspecifiedMatching MONDO:0009486 autosomal recessive Kenny-Caffey syndrome skos:exactMatch OMIM:244460 kenny-caffey syndrome, type 1 semapv:UnspecifiedMatching MONDO:0009486 autosomal recessive Kenny-Caffey syndrome skos:exactMatch Orphanet:93324 Autosomal recessive Kenny-Caffey syndrome semapv:UnspecifiedMatching MONDO:0009486 autosomal recessive Kenny-Caffey syndrome skos:exactMatch UMLS:C1855648 semapv:UnspecifiedMatching MONDO:0009486 autosomal recessive Kenny-Caffey syndrome skos:exactMatch mesh:C537021 semapv:UnspecifiedMatching MONDO:0009487 keratoconus and congenital hip dysplasia skos:exactMatch MEDGEN:383732 semapv:UnspecifiedMatching MONDO:0009487 keratoconus and congenital hip dysplasia skos:exactMatch OMIM:244510 keratoconus and congenital hip dysplasia semapv:UnspecifiedMatching MONDO:0009487 keratoconus and congenital hip dysplasia skos:exactMatch UMLS:C1855647 semapv:UnspecifiedMatching MONDO:0009487 keratoconus and congenital hip dysplasia skos:exactMatch mesh:C565456 semapv:UnspecifiedMatching MONDO:0009488 keratoconus posticus circumscriptus skos:exactMatch MEDGEN:340922 semapv:UnspecifiedMatching MONDO:0009488 keratoconus posticus circumscriptus skos:exactMatch OMIM:244600 keratoconus posticus circumscriptus semapv:UnspecifiedMatching MONDO:0009488 keratoconus posticus circumscriptus skos:exactMatch UMLS:C1855645 semapv:UnspecifiedMatching MONDO:0009488 keratoconus posticus circumscriptus skos:exactMatch mesh:C536151 semapv:UnspecifiedMatching MONDO:0009489 hereditary palmoplantar keratoderma, Gamborg-Nielsen type skos:exactMatch SCTID:717228004 semapv:UnspecifiedMatching MONDO:0009489 hereditary palmoplantar keratoderma, Gamborg-Nielsen type skos:exactMatch mesh:C565454 semapv:UnspecifiedMatching MONDO:0009490 Papillon-Lefevre disease skos:exactMatch DOID:3389 Papillon-Lefevre disease semapv:UnspecifiedMatching MONDO:0009490 Papillon-Lefevre disease skos:exactMatch MEDGEN:45306 semapv:UnspecifiedMatching MONDO:0009490 Papillon-Lefevre disease skos:exactMatch NCIT:C84992 Papillon-Lefevre Syndrome semapv:UnspecifiedMatching MONDO:0009490 Papillon-Lefevre disease skos:exactMatch OMIM:245000 papillon-lefevre syndrome semapv:UnspecifiedMatching MONDO:0009490 Papillon-Lefevre disease skos:exactMatch Orphanet:678 Papillon-Lefèvre syndrome semapv:UnspecifiedMatching MONDO:0009490 Papillon-Lefevre disease skos:exactMatch SCTID:40158001 semapv:UnspecifiedMatching MONDO:0009490 Papillon-Lefevre disease skos:exactMatch UMLS:C0030360 semapv:UnspecifiedMatching MONDO:0009490 Papillon-Lefevre disease skos:exactMatch mesh:D010214 semapv:UnspecifiedMatching MONDO:0009491 Haim-Munk syndrome skos:exactMatch MEDGEN:344539 semapv:UnspecifiedMatching MONDO:0009491 Haim-Munk syndrome skos:exactMatch OMIM:245010 haim-munk syndrome semapv:UnspecifiedMatching MONDO:0009491 Haim-Munk syndrome skos:exactMatch Orphanet:2342 Haim-Munk syndrome semapv:UnspecifiedMatching MONDO:0009491 Haim-Munk syndrome skos:exactMatch SCTID:719973009 semapv:UnspecifiedMatching MONDO:0009491 Haim-Munk syndrome skos:exactMatch UMLS:C1855627 semapv:UnspecifiedMatching MONDO:0009491 Haim-Munk syndrome skos:exactMatch mesh:C537627 semapv:UnspecifiedMatching MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency skos:exactMatch MEDGEN:137979 semapv:UnspecifiedMatching MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency skos:exactMatch OMIM:245050 succinyl-coa:3-oxoacid-coa transferase deficiency semapv:UnspecifiedMatching MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency skos:exactMatch Orphanet:832 Succinyl-CoA:3-oxoacid CoA transferase deficiency semapv:UnspecifiedMatching MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency skos:exactMatch SCTID:238004006 semapv:UnspecifiedMatching MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency skos:exactMatch UMLS:C0342792 semapv:UnspecifiedMatching MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency skos:exactMatch mesh:C537527 semapv:UnspecifiedMatching MONDO:0009493 Richards-Rundle syndrome skos:exactMatch MEDGEN:163219 semapv:UnspecifiedMatching MONDO:0009493 Richards-Rundle syndrome skos:exactMatch OMIM:245100 richards-rundle syndrome semapv:UnspecifiedMatching MONDO:0009493 Richards-Rundle syndrome skos:exactMatch Orphanet:1399 Richards-Rundle syndrome semapv:UnspecifiedMatching MONDO:0009493 Richards-Rundle syndrome skos:exactMatch SCTID:715415005 semapv:UnspecifiedMatching MONDO:0009493 Richards-Rundle syndrome skos:exactMatch UMLS:C0796136 semapv:UnspecifiedMatching MONDO:0009493 Richards-Rundle syndrome skos:exactMatch icd11.foundation:114583632 Richards-Rundle syndrome semapv:UnspecifiedMatching MONDO:0009493 Richards-Rundle syndrome skos:exactMatch mesh:C535674 semapv:UnspecifiedMatching MONDO:0009495 Keutel syndrome skos:exactMatch MEDGEN:383722 semapv:UnspecifiedMatching MONDO:0009495 Keutel syndrome skos:exactMatch OMIM:245150 keutel syndrome semapv:UnspecifiedMatching MONDO:0009495 Keutel syndrome skos:exactMatch Orphanet:85202 Keutel syndrome semapv:UnspecifiedMatching MONDO:0009495 Keutel syndrome skos:exactMatch SCTID:724208006 semapv:UnspecifiedMatching MONDO:0009495 Keutel syndrome skos:exactMatch UMLS:C1855607 semapv:UnspecifiedMatching MONDO:0009495 Keutel syndrome skos:exactMatch icd11.foundation:1083151379 Keutel syndrome semapv:UnspecifiedMatching MONDO:0009495 Keutel syndrome skos:exactMatch mesh:C536167 semapv:UnspecifiedMatching MONDO:0009496 Kniest-like dysplasia with pursed lips and ectopia lentis skos:exactMatch MEDGEN:343394 semapv:UnspecifiedMatching MONDO:0009496 Kniest-like dysplasia with pursed lips and ectopia lentis skos:exactMatch OMIM:245160 kniest-like dysplasia with pursed lips and ectopia lentis semapv:UnspecifiedMatching MONDO:0009496 Kniest-like dysplasia with pursed lips and ectopia lentis skos:exactMatch UMLS:C1855606 semapv:UnspecifiedMatching MONDO:0009497 Kifafa seizure disorder skos:exactMatch MEDGEN:208655 semapv:UnspecifiedMatching MONDO:0009497 Kifafa seizure disorder skos:exactMatch OMIM:245180 kifafa seizure disorder semapv:UnspecifiedMatching MONDO:0009497 Kifafa seizure disorder skos:exactMatch UMLS:C0796010 semapv:UnspecifiedMatching MONDO:0009497 Kifafa seizure disorder skos:exactMatch mesh:C537708 semapv:UnspecifiedMatching MONDO:0009498 lethal Kniest-like dysplasia skos:exactMatch MEDGEN:383721 semapv:UnspecifiedMatching MONDO:0009498 lethal Kniest-like dysplasia skos:exactMatch OMIM:245190 kniest-like dysplasia, lethal semapv:UnspecifiedMatching MONDO:0009498 lethal Kniest-like dysplasia skos:exactMatch Orphanet:2347 Lethal Kniest-like dysplasia semapv:UnspecifiedMatching MONDO:0009498 lethal Kniest-like dysplasia skos:exactMatch UMLS:C1855605 semapv:UnspecifiedMatching MONDO:0009498 lethal Kniest-like dysplasia skos:exactMatch mesh:C537208 semapv:UnspecifiedMatching MONDO:0009499 Krabbe disease skos:exactMatch DOID:10587 Krabbe disease semapv:UnspecifiedMatching MONDO:0009499 Krabbe disease skos:exactMatch ICD10CM:E75.23 Krabbe disease semapv:UnspecifiedMatching MONDO:0009499 Krabbe disease skos:exactMatch MEDGEN:44131 semapv:UnspecifiedMatching MONDO:0009499 Krabbe disease skos:exactMatch NCIT:C61254 Krabbe Disease semapv:UnspecifiedMatching MONDO:0009499 Krabbe disease skos:exactMatch OMIM:245200 krabbe disease semapv:UnspecifiedMatching MONDO:0009499 Krabbe disease skos:exactMatch Orphanet:487 Krabbe disease semapv:UnspecifiedMatching MONDO:0009499 Krabbe disease skos:exactMatch SCTID:189979005 semapv:UnspecifiedMatching MONDO:0009499 Krabbe disease skos:exactMatch SCTID:192782005 semapv:UnspecifiedMatching MONDO:0009499 Krabbe disease skos:exactMatch UMLS:C0023521 semapv:UnspecifiedMatching MONDO:0009499 Krabbe disease skos:exactMatch icd11.foundation:796317173 Krabbe disease semapv:UnspecifiedMatching MONDO:0009499 Krabbe disease skos:exactMatch mesh:D007965 semapv:UnspecifiedMatching MONDO:0009500 kuru, susceptibility to skos:exactMatch MEDGEN:343389 semapv:UnspecifiedMatching MONDO:0009500 kuru, susceptibility to skos:exactMatch OMIM:245300 kuru, susceptibility to semapv:UnspecifiedMatching MONDO:0009500 kuru, susceptibility to skos:exactMatch UMLS:C1855588 semapv:UnspecifiedMatching MONDO:0009501 metabolic myopathy due to lactate transporter defect skos:exactMatch MEDGEN:344529 semapv:UnspecifiedMatching MONDO:0009501 metabolic myopathy due to lactate transporter defect skos:exactMatch OMIM:245340 erythrocyte lactate transporter defect semapv:UnspecifiedMatching MONDO:0009501 metabolic myopathy due to lactate transporter defect skos:exactMatch Orphanet:171690 Metabolic myopathy due to lactate transporter defect semapv:UnspecifiedMatching MONDO:0009501 metabolic myopathy due to lactate transporter defect skos:exactMatch SCTID:766715000 semapv:UnspecifiedMatching MONDO:0009501 metabolic myopathy due to lactate transporter defect skos:exactMatch UMLS:C1855577 semapv:UnspecifiedMatching MONDO:0009501 metabolic myopathy due to lactate transporter defect skos:exactMatch mesh:C565449 semapv:UnspecifiedMatching MONDO:0009502 pyruvate dehydrogenase E2 deficiency skos:exactMatch MEDGEN:343386 semapv:UnspecifiedMatching MONDO:0009502 pyruvate dehydrogenase E2 deficiency skos:exactMatch OMIM:245348 pyruvate dehydrogenase e2 deficiency semapv:UnspecifiedMatching MONDO:0009502 pyruvate dehydrogenase E2 deficiency skos:exactMatch Orphanet:79244 Pyruvate dehydrogenase E2 deficiency semapv:UnspecifiedMatching MONDO:0009502 pyruvate dehydrogenase E2 deficiency skos:exactMatch UMLS:C1855565 semapv:UnspecifiedMatching MONDO:0009502 pyruvate dehydrogenase E2 deficiency skos:exactMatch mesh:C565448 semapv:UnspecifiedMatching MONDO:0009503 pyruvate dehydrogenase E3-binding protein deficiency skos:exactMatch MEDGEN:343383 semapv:UnspecifiedMatching MONDO:0009503 pyruvate dehydrogenase E3-binding protein deficiency skos:exactMatch OMIM:245349 pyruvate dehydrogenase e3-binding protein deficiency semapv:UnspecifiedMatching MONDO:0009503 pyruvate dehydrogenase E3-binding protein deficiency skos:exactMatch Orphanet:255182 Pyruvate dehydrogenase E3-binding protein deficiency semapv:UnspecifiedMatching MONDO:0009503 pyruvate dehydrogenase E3-binding protein deficiency skos:exactMatch UMLS:C1855553 semapv:UnspecifiedMatching MONDO:0009503 pyruvate dehydrogenase E3-binding protein deficiency skos:exactMatch mesh:C565447 semapv:UnspecifiedMatching MONDO:0009504 mitochondrial DNA depletion syndrome 9 skos:exactMatch DOID:0080128 mitochondrial DNA depletion syndrome 9 semapv:UnspecifiedMatching MONDO:0009504 mitochondrial DNA depletion syndrome 9 skos:exactMatch MEDGEN:462826 semapv:UnspecifiedMatching MONDO:0009504 mitochondrial DNA depletion syndrome 9 skos:exactMatch OMIM:245400 mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) semapv:UnspecifiedMatching MONDO:0009504 mitochondrial DNA depletion syndrome 9 skos:exactMatch Orphanet:17 Fatal infantile lactic acidosis with methylmalonic aciduria semapv:UnspecifiedMatching MONDO:0009504 mitochondrial DNA depletion syndrome 9 skos:exactMatch SCTID:715338007 semapv:UnspecifiedMatching MONDO:0009504 mitochondrial DNA depletion syndrome 9 skos:exactMatch UMLS:C3151476 semapv:UnspecifiedMatching MONDO:0009504 mitochondrial DNA depletion syndrome 9 skos:exactMatch mesh:C538134 semapv:UnspecifiedMatching MONDO:0009504 mitochondrial DNA depletion syndrome 9 skos:exactMatch mesh:C566885 semapv:UnspecifiedMatching MONDO:0009505 lactic aciduria due to D-lactic acid skos:exactMatch MEDGEN:1679270 semapv:UnspecifiedMatching MONDO:0009505 lactic aciduria due to D-lactic acid skos:exactMatch OMIM:245450 d-lactic aciduria with gout semapv:UnspecifiedMatching MONDO:0009505 lactic aciduria due to D-lactic acid skos:exactMatch UMLS:C5193006 semapv:UnspecifiedMatching MONDO:0009505 lactic aciduria due to D-lactic acid skos:exactMatch mesh:C565446 semapv:UnspecifiedMatching MONDO:0009506 specific granule deficiency skos:exactMatch MEDGEN:140766 semapv:UnspecifiedMatching MONDO:0009506 specific granule deficiency skos:exactMatch OMIMPS:245480 Specific granule deficiency semapv:UnspecifiedMatching MONDO:0009506 specific granule deficiency skos:exactMatch Orphanet:169142 Recurrent infections due to specific granule deficiency semapv:UnspecifiedMatching MONDO:0009506 specific granule deficiency skos:exactMatch SCTID:234587000 semapv:UnspecifiedMatching MONDO:0009506 specific granule deficiency skos:exactMatch UMLS:C0398593 semapv:UnspecifiedMatching MONDO:0009506 specific granule deficiency skos:exactMatch mesh:C562873 semapv:UnspecifiedMatching MONDO:0009507 Lambert syndrome skos:exactMatch MEDGEN:343381 semapv:UnspecifiedMatching MONDO:0009507 Lambert syndrome skos:exactMatch OMIM:245550 lambert syndrome semapv:UnspecifiedMatching MONDO:0009507 Lambert syndrome skos:exactMatch Orphanet:1296 Lambert syndrome semapv:UnspecifiedMatching MONDO:0009507 Lambert syndrome skos:exactMatch SCTID:732961003 semapv:UnspecifiedMatching MONDO:0009507 Lambert syndrome skos:exactMatch UMLS:C1855551 semapv:UnspecifiedMatching MONDO:0009507 Lambert syndrome skos:exactMatch mesh:C538396 semapv:UnspecifiedMatching MONDO:0009508 Lambotte syndrome skos:exactMatch MEDGEN:343380 semapv:UnspecifiedMatching MONDO:0009508 Lambotte syndrome skos:exactMatch OMIM:245552 lambotte syndrome semapv:UnspecifiedMatching MONDO:0009508 Lambotte syndrome skos:exactMatch UMLS:C1855550 semapv:UnspecifiedMatching MONDO:0009508 Lambotte syndrome skos:exactMatch mesh:C537549 semapv:UnspecifiedMatching MONDO:0009509 Landau-Kleffner syndrome skos:exactMatch DOID:2538 Landau-Kleffner syndrome semapv:UnspecifiedMatching MONDO:0009509 Landau-Kleffner syndrome skos:exactMatch EFO:1001010 semapv:UnspecifiedMatching MONDO:0009509 Landau-Kleffner syndrome skos:exactMatch MEDGEN:79465 semapv:UnspecifiedMatching MONDO:0009509 Landau-Kleffner syndrome skos:exactMatch NCIT:C84806 Landau-Kleffner Syndrome semapv:UnspecifiedMatching MONDO:0009509 Landau-Kleffner syndrome skos:exactMatch Orphanet:98818 Landau-Kleffner syndrome semapv:UnspecifiedMatching MONDO:0009509 Landau-Kleffner syndrome skos:exactMatch SCTID:230438007 semapv:UnspecifiedMatching MONDO:0009509 Landau-Kleffner syndrome skos:exactMatch UMLS:C0282512 semapv:UnspecifiedMatching MONDO:0009509 Landau-Kleffner syndrome skos:exactMatch icd11.foundation:348544271 Acquired epileptic aphasia semapv:UnspecifiedMatching MONDO:0009509 Landau-Kleffner syndrome skos:exactMatch mesh:D018887 semapv:UnspecifiedMatching MONDO:0009511 Larsen-like syndrome, B3GAT3 type skos:exactMatch DOID:0080575 Larsen-like syndrome B3GAT3 type semapv:UnspecifiedMatching MONDO:0009511 Larsen-like syndrome, B3GAT3 type skos:exactMatch MEDGEN:480034 semapv:UnspecifiedMatching MONDO:0009511 Larsen-like syndrome, B3GAT3 type skos:exactMatch OMIM:245600 multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects semapv:UnspecifiedMatching MONDO:0009511 Larsen-like syndrome, B3GAT3 type skos:exactMatch Orphanet:284139 Larsen-like syndrome, B3GAT3 type semapv:UnspecifiedMatching MONDO:0009511 Larsen-like syndrome, B3GAT3 type skos:exactMatch UMLS:C3278404 semapv:UnspecifiedMatching MONDO:0009511 Larsen-like syndrome, B3GAT3 type skos:exactMatch mesh:C537874 semapv:UnspecifiedMatching MONDO:0009512 lethal Larsen-like syndrome skos:exactMatch MEDGEN:343375 semapv:UnspecifiedMatching MONDO:0009512 lethal Larsen-like syndrome skos:exactMatch OMIM:245650 larsen-like syndrome, lethal type semapv:UnspecifiedMatching MONDO:0009512 lethal Larsen-like syndrome skos:exactMatch Orphanet:2371 Lethal Larsen-like syndrome semapv:UnspecifiedMatching MONDO:0009512 lethal Larsen-like syndrome skos:exactMatch SCTID:719409004 semapv:UnspecifiedMatching MONDO:0009512 lethal Larsen-like syndrome skos:exactMatch UMLS:C1855535 semapv:UnspecifiedMatching MONDO:0009512 lethal Larsen-like syndrome skos:exactMatch icd11.foundation:1014532279 Lethal Larsen-like syndrome semapv:UnspecifiedMatching MONDO:0009512 lethal Larsen-like syndrome skos:exactMatch mesh:C537872 semapv:UnspecifiedMatching MONDO:0009513 laryngo-onycho-cutaneous syndrome skos:exactMatch MEDGEN:272227 semapv:UnspecifiedMatching MONDO:0009513 laryngo-onycho-cutaneous syndrome skos:exactMatch OMIM:245660 epidermolysis bullosa, junctional 2c, laryngoonychocutaneous semapv:UnspecifiedMatching MONDO:0009513 laryngo-onycho-cutaneous syndrome skos:exactMatch Orphanet:2407 Laryngo-onycho-cutaneous syndrome semapv:UnspecifiedMatching MONDO:0009513 laryngo-onycho-cutaneous syndrome skos:exactMatch SCTID:722675000 semapv:UnspecifiedMatching MONDO:0009513 laryngo-onycho-cutaneous syndrome skos:exactMatch UMLS:C1328355 semapv:UnspecifiedMatching MONDO:0009513 laryngo-onycho-cutaneous syndrome skos:exactMatch mesh:C537032 semapv:UnspecifiedMatching MONDO:0009514 Laurence-Moon syndrome skos:exactMatch DOID:1930 Laurence-Moon syndrome semapv:UnspecifiedMatching MONDO:0009514 Laurence-Moon syndrome skos:exactMatch MEDGEN:44078 semapv:UnspecifiedMatching MONDO:0009514 Laurence-Moon syndrome skos:exactMatch NCIT:C34760 Laurence-Moon Syndrome semapv:UnspecifiedMatching MONDO:0009514 Laurence-Moon syndrome skos:exactMatch OMIM:245800 laurence-moon syndrome semapv:UnspecifiedMatching MONDO:0009514 Laurence-Moon syndrome skos:exactMatch Orphanet:2377 Laurence-Moon syndrome semapv:UnspecifiedMatching MONDO:0009514 Laurence-Moon syndrome skos:exactMatch SCTID:232059000 semapv:UnspecifiedMatching MONDO:0009514 Laurence-Moon syndrome skos:exactMatch UMLS:C0023138 semapv:UnspecifiedMatching MONDO:0009514 Laurence-Moon syndrome skos:exactMatch icd11.foundation:458834940 Laurence-Moon syndrome semapv:UnspecifiedMatching MONDO:0009514 Laurence-Moon syndrome skos:exactMatch mesh:D007849 semapv:UnspecifiedMatching MONDO:0009515 Norum disease skos:exactMatch DOID:1391 Norum disease semapv:UnspecifiedMatching MONDO:0009515 Norum disease skos:exactMatch MEDGEN:9698 semapv:UnspecifiedMatching MONDO:0009515 Norum disease skos:exactMatch NCIT:C84813 Lecithin Acyltransferase Deficiency semapv:UnspecifiedMatching MONDO:0009515 Norum disease skos:exactMatch OMIM:245900 lecithin:cholesterol acyltransferase deficiency semapv:UnspecifiedMatching MONDO:0009515 Norum disease skos:exactMatch Orphanet:79293 Familial LCAT deficiency semapv:UnspecifiedMatching MONDO:0009515 Norum disease skos:exactMatch SCTID:238091006 semapv:UnspecifiedMatching MONDO:0009515 Norum disease skos:exactMatch UMLS:C0023195 semapv:UnspecifiedMatching MONDO:0009515 Norum disease skos:exactMatch icd11.foundation:1848131619 Norum disease semapv:UnspecifiedMatching MONDO:0009516 absence deformity of leg-cataract syndrome skos:exactMatch MEDGEN:343374 semapv:UnspecifiedMatching MONDO:0009516 absence deformity of leg-cataract syndrome skos:exactMatch OMIM:246000 leg, absence deformity of, with congenital cataract semapv:UnspecifiedMatching MONDO:0009516 absence deformity of leg-cataract syndrome skos:exactMatch Orphanet:2310 Absence deformity of leg-cataract syndrome semapv:UnspecifiedMatching MONDO:0009516 absence deformity of leg-cataract syndrome skos:exactMatch UMLS:C1855523 semapv:UnspecifiedMatching MONDO:0009516 absence deformity of leg-cataract syndrome skos:exactMatch mesh:C565442 semapv:UnspecifiedMatching MONDO:0009517 Donohue syndrome skos:exactMatch DOID:0050470 Donohue syndrome semapv:UnspecifiedMatching MONDO:0009517 Donohue syndrome skos:exactMatch MEDGEN:82708 semapv:UnspecifiedMatching MONDO:0009517 Donohue syndrome skos:exactMatch NCIT:C84676 Donohue Syndrome semapv:UnspecifiedMatching MONDO:0009517 Donohue syndrome skos:exactMatch OMIM:246200 donohue syndrome semapv:UnspecifiedMatching MONDO:0009517 Donohue syndrome skos:exactMatch Orphanet:508 Donohue syndrome semapv:UnspecifiedMatching MONDO:0009517 Donohue syndrome skos:exactMatch SCTID:111307005 semapv:UnspecifiedMatching MONDO:0009517 Donohue syndrome skos:exactMatch UMLS:C0265344 semapv:UnspecifiedMatching MONDO:0009517 Donohue syndrome skos:exactMatch mesh:D056731 semapv:UnspecifiedMatching MONDO:0009518 leprosy, susceptibility to, 3 skos:exactMatch MEDGEN:368500 semapv:UnspecifiedMatching MONDO:0009518 leprosy, susceptibility to, 3 skos:exactMatch OMIM:246300 leprosy, susceptibility to, 3 semapv:UnspecifiedMatching MONDO:0009518 leprosy, susceptibility to, 3 skos:exactMatch UMLS:C1968668 semapv:UnspecifiedMatching MONDO:0009519 letterer-Siwe disease skos:exactMatch ICD10CM:C96.0 Multifocal and multisystemic (disseminated) Langerhans-cell histiocytosis semapv:UnspecifiedMatching MONDO:0009519 letterer-Siwe disease skos:exactMatch MEDGEN:7311 semapv:UnspecifiedMatching MONDO:0009519 letterer-Siwe disease skos:exactMatch NCIT:C3160 Letterer-Siwe Disease semapv:UnspecifiedMatching MONDO:0009519 letterer-Siwe disease skos:exactMatch OMIM:246400 letterer-siwe disease semapv:UnspecifiedMatching MONDO:0009519 letterer-Siwe disease skos:exactMatch UMLS:C0023381 semapv:UnspecifiedMatching MONDO:0009519 letterer-Siwe disease skos:exactMatch icd11.foundation:1827474596 Letterer-Siwe disease semapv:UnspecifiedMatching MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:exactMatch DOID:0070541 3-hydroxy-3-methylglutaryl-CoA lyase deficiency semapv:UnspecifiedMatching MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:exactMatch MEDGEN:735832 semapv:UnspecifiedMatching MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:exactMatch NCIT:C84523 HMG-CoA Lyase Deficiency semapv:UnspecifiedMatching MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:exactMatch OMIM:246450 3-hydroxy-3-methylglutaryl-coa lyase deficiency semapv:UnspecifiedMatching MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:exactMatch Orphanet:20 3-hydroxy-3-methylglutaric aciduria semapv:UnspecifiedMatching MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:exactMatch SCTID:410059004 semapv:UnspecifiedMatching MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:exactMatch UMLS:C1533587 semapv:UnspecifiedMatching MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:exactMatch icd11.foundation:795785192 3-hydroxy-3-methylglutaric aciduria semapv:UnspecifiedMatching MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:exactMatch mesh:C538324 semapv:UnspecifiedMatching MONDO:0009521 leukemia, acute myelocytic, with polyposis coli and colon cancer skos:exactMatch MEDGEN:383699 semapv:UnspecifiedMatching MONDO:0009521 leukemia, acute myelocytic, with polyposis coli and colon cancer skos:exactMatch OMIM:246470 leukemia, acute myelocytic, with polyposis coli and colon cancer semapv:UnspecifiedMatching MONDO:0009521 leukemia, acute myelocytic, with polyposis coli and colon cancer skos:exactMatch UMLS:C1855505 semapv:UnspecifiedMatching MONDO:0009521 leukemia, acute myelocytic, with polyposis coli and colon cancer skos:exactMatch mesh:C565441 semapv:UnspecifiedMatching MONDO:0009522 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome skos:exactMatch MEDGEN:383698 semapv:UnspecifiedMatching MONDO:0009522 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome skos:exactMatch OMIM:246500 leukomelanoderma, infantilism, impaired intellectual development, hypodontia, hypotrichosis semapv:UnspecifiedMatching MONDO:0009522 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome skos:exactMatch Orphanet:1816 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome semapv:UnspecifiedMatching MONDO:0009522 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome skos:exactMatch SCTID:239032007 semapv:UnspecifiedMatching MONDO:0009522 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome skos:exactMatch UMLS:C1855504 semapv:UnspecifiedMatching MONDO:0009522 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome skos:exactMatch mesh:C565440 semapv:UnspecifiedMatching MONDO:0009523 Lichtenstein syndrome skos:exactMatch MEDGEN:340889 semapv:UnspecifiedMatching MONDO:0009523 Lichtenstein syndrome skos:exactMatch OMIM:246550 lichtenstein syndrome semapv:UnspecifiedMatching MONDO:0009523 Lichtenstein syndrome skos:exactMatch Orphanet:2390 Lichtenstein syndrome semapv:UnspecifiedMatching MONDO:0009523 Lichtenstein syndrome skos:exactMatch SCTID:763668009 semapv:UnspecifiedMatching MONDO:0009523 Lichtenstein syndrome skos:exactMatch UMLS:C1855502 semapv:UnspecifiedMatching MONDO:0009523 Lichtenstein syndrome skos:exactMatch mesh:C535894 semapv:UnspecifiedMatching MONDO:0009524 intellectual disability-spasticity-ectrodactyly syndrome skos:exactMatch MEDGEN:340888 semapv:UnspecifiedMatching MONDO:0009524 intellectual disability-spasticity-ectrodactyly syndrome skos:exactMatch OMIM:246555 limb defects, distal transverse, with impaired intellectual development and spasticity semapv:UnspecifiedMatching MONDO:0009524 intellectual disability-spasticity-ectrodactyly syndrome skos:exactMatch Orphanet:1891 Intellectual disability-spasticity-ectrodactyly syndrome semapv:UnspecifiedMatching MONDO:0009524 intellectual disability-spasticity-ectrodactyly syndrome skos:exactMatch SCTID:763743003 semapv:UnspecifiedMatching MONDO:0009524 intellectual disability-spasticity-ectrodactyly syndrome skos:exactMatch UMLS:C1855501 semapv:UnspecifiedMatching MONDO:0009524 intellectual disability-spasticity-ectrodactyly syndrome skos:exactMatch mesh:C537446 semapv:UnspecifiedMatching MONDO:0009525 split hand-foot malformation 3 skos:exactMatch DOID:0090025 split hand-foot malformation 3 semapv:UnspecifiedMatching MONDO:0009525 split hand-foot malformation 3 skos:exactMatch MEDGEN:325070 semapv:UnspecifiedMatching MONDO:0009525 split hand-foot malformation 3 skos:exactMatch NCIT:C75121 Split-Hand/Foot Malformation Type 3 semapv:UnspecifiedMatching MONDO:0009525 split hand-foot malformation 3 skos:exactMatch OMIM:246560 split-hand/foot malformation 3 semapv:UnspecifiedMatching MONDO:0009525 split hand-foot malformation 3 skos:exactMatch Orphanet:1307 Distal limb deficiencies-micrognathia syndrome semapv:UnspecifiedMatching MONDO:0009525 split hand-foot malformation 3 skos:exactMatch SCTID:722429003 semapv:UnspecifiedMatching MONDO:0009525 split hand-foot malformation 3 skos:exactMatch UMLS:C1838652 semapv:UnspecifiedMatching MONDO:0009525 split hand-foot malformation 3 skos:exactMatch mesh:C565437 semapv:UnspecifiedMatching MONDO:0009526 fibular aplasia, tibial campomelia, and oligosyndactyly syndrome skos:exactMatch MEDGEN:340887 semapv:UnspecifiedMatching MONDO:0009526 fibular aplasia, tibial campomelia, and oligosyndactyly syndrome skos:exactMatch OMIM:246570 fibular aplasia, tibial campomelia, and oligosyndactyly syndrome semapv:UnspecifiedMatching MONDO:0009526 fibular aplasia, tibial campomelia, and oligosyndactyly syndrome skos:exactMatch UMLS:C1855499 semapv:UnspecifiedMatching MONDO:0009526 fibular aplasia, tibial campomelia, and oligosyndactyly syndrome skos:exactMatch mesh:C565436 semapv:UnspecifiedMatching MONDO:0009527 lipase deficiency, combined skos:exactMatch DOID:0111422 familial lipase maturation factor 1 deficiency semapv:UnspecifiedMatching MONDO:0009527 lipase deficiency, combined skos:exactMatch MEDGEN:340886 semapv:UnspecifiedMatching MONDO:0009527 lipase deficiency, combined skos:exactMatch NCIT:C126558 Combined Lipase Deficiency semapv:UnspecifiedMatching MONDO:0009527 lipase deficiency, combined skos:exactMatch OMIM:246650 lipase deficiency, combined semapv:UnspecifiedMatching MONDO:0009527 lipase deficiency, combined skos:exactMatch Orphanet:535453 Familial lipase maturation factor 1 deficiency semapv:UnspecifiedMatching MONDO:0009527 lipase deficiency, combined skos:exactMatch UMLS:C1855498 semapv:UnspecifiedMatching MONDO:0009527 lipase deficiency, combined skos:exactMatch mesh:C535904 semapv:UnspecifiedMatching MONDO:0009528 chylomicron retention disease skos:exactMatch DOID:0060357 chylomicron retention disease semapv:UnspecifiedMatching MONDO:0009528 chylomicron retention disease skos:exactMatch MEDGEN:208651 semapv:UnspecifiedMatching MONDO:0009528 chylomicron retention disease skos:exactMatch OMIM:246700 chylomicron retention disease semapv:UnspecifiedMatching MONDO:0009528 chylomicron retention disease skos:exactMatch Orphanet:71 Chylomicron retention disease semapv:UnspecifiedMatching MONDO:0009528 chylomicron retention disease skos:exactMatch SCTID:702364003 semapv:UnspecifiedMatching MONDO:0009528 chylomicron retention disease skos:exactMatch UMLS:C0795956 semapv:UnspecifiedMatching MONDO:0009528 chylomicron retention disease skos:exactMatch icd11.foundation:1447416932 Chylomicron retention disease semapv:UnspecifiedMatching MONDO:0009528 chylomicron retention disease skos:exactMatch mesh:C535460 semapv:UnspecifiedMatching MONDO:0009529 pyruvate dehydrogenase E3 deficiency skos:exactMatch DOID:0061204 dihydrolipoamide dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0009529 pyruvate dehydrogenase E3 deficiency skos:exactMatch MEDGEN:1805500 semapv:UnspecifiedMatching MONDO:0009529 pyruvate dehydrogenase E3 deficiency skos:exactMatch OMIM:246900 dihydrolipoamide dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0009529 pyruvate dehydrogenase E3 deficiency skos:exactMatch Orphanet:2394 Pyruvate dehydrogenase E3 deficiency semapv:UnspecifiedMatching MONDO:0009529 pyruvate dehydrogenase E3 deficiency skos:exactMatch SCTID:29914000 semapv:UnspecifiedMatching MONDO:0009529 pyruvate dehydrogenase E3 deficiency skos:exactMatch UMLS:C5574660 semapv:UnspecifiedMatching MONDO:0009530 lipoid proteinosis skos:exactMatch DOID:14498 lipoid proteinosis semapv:UnspecifiedMatching MONDO:0009530 lipoid proteinosis skos:exactMatch MEDGEN:6112 semapv:UnspecifiedMatching MONDO:0009530 lipoid proteinosis skos:exactMatch NCIT:C84829 Lipoid Proteinosis of Urbach and Wiethe semapv:UnspecifiedMatching MONDO:0009530 lipoid proteinosis skos:exactMatch OMIM:247100 lipoid proteinosis of urbach and wiethe semapv:UnspecifiedMatching MONDO:0009530 lipoid proteinosis skos:exactMatch Orphanet:530 Lipoid proteinosis semapv:UnspecifiedMatching MONDO:0009530 lipoid proteinosis skos:exactMatch SCTID:38692000 semapv:UnspecifiedMatching MONDO:0009530 lipoid proteinosis skos:exactMatch UMLS:C0023795 semapv:UnspecifiedMatching MONDO:0009530 lipoid proteinosis skos:exactMatch icd11.foundation:326368380 Lipoid proteinosis semapv:UnspecifiedMatching MONDO:0009530 lipoid proteinosis skos:exactMatch mesh:D008065 semapv:UnspecifiedMatching MONDO:0009531 obsolete lip prints skos:exactMatch OMIM:247150 lip prints semapv:UnspecifiedMatching MONDO:0009532 Miller-Dieker lissencephaly syndrome skos:exactMatch DOID:0060469 Miller-Dieker lissencephaly syndrome semapv:UnspecifiedMatching MONDO:0009532 Miller-Dieker lissencephaly syndrome skos:exactMatch MEDGEN:78538 semapv:UnspecifiedMatching MONDO:0009532 Miller-Dieker lissencephaly syndrome skos:exactMatch NCIT:C124852 Miller-Dieker Syndrome semapv:UnspecifiedMatching MONDO:0009532 Miller-Dieker lissencephaly syndrome skos:exactMatch OMIM:247200 miller-dieker lissencephaly syndrome semapv:UnspecifiedMatching MONDO:0009532 Miller-Dieker lissencephaly syndrome skos:exactMatch Orphanet:531 Miller-Dieker syndrome semapv:UnspecifiedMatching MONDO:0009532 Miller-Dieker lissencephaly syndrome skos:exactMatch SCTID:253148005 semapv:UnspecifiedMatching MONDO:0009532 Miller-Dieker lissencephaly syndrome skos:exactMatch UMLS:C0265219 semapv:UnspecifiedMatching MONDO:0009533 Dahlberg-Borer-Newcomer syndrome skos:exactMatch MEDGEN:383693 semapv:UnspecifiedMatching MONDO:0009533 Dahlberg-Borer-Newcomer syndrome skos:exactMatch OMIM:247410 lymphedema-hypoparathyroidism syndrome semapv:UnspecifiedMatching MONDO:0009533 Dahlberg-Borer-Newcomer syndrome skos:exactMatch Orphanet:1563 Dahlberg-Borer-Newcomer syndrome semapv:UnspecifiedMatching MONDO:0009533 Dahlberg-Borer-Newcomer syndrome skos:exactMatch SCTID:721083007 semapv:UnspecifiedMatching MONDO:0009533 Dahlberg-Borer-Newcomer syndrome skos:exactMatch UMLS:C1855477 semapv:UnspecifiedMatching MONDO:0009533 Dahlberg-Borer-Newcomer syndrome skos:exactMatch icd11.foundation:1407652122 Dahlberg-Borer-Newcomer syndrome semapv:UnspecifiedMatching MONDO:0009533 Dahlberg-Borer-Newcomer syndrome skos:exactMatch mesh:C535769 semapv:UnspecifiedMatching MONDO:0009534 chronic mucocutaneous candidiasis due to inhibition of lymphoblastic transformation skos:exactMatch MEDGEN:344504 semapv:UnspecifiedMatching MONDO:0009534 chronic mucocutaneous candidiasis due to inhibition of lymphoblastic transformation skos:exactMatch OMIM:247430 lymphoblastic transformation, inhibition of semapv:UnspecifiedMatching MONDO:0009534 chronic mucocutaneous candidiasis due to inhibition of lymphoblastic transformation skos:exactMatch UMLS:C1855476 semapv:UnspecifiedMatching MONDO:0009534 chronic mucocutaneous candidiasis due to inhibition of lymphoblastic transformation skos:exactMatch mesh:C565433 semapv:UnspecifiedMatching MONDO:0009535 obsolete lymphedema, congenital recessive skos:exactMatch OMIM:247440 semapv:UnspecifiedMatching MONDO:0009535 obsolete lymphedema, congenital recessive skos:exactMatch mesh:C565432 semapv:UnspecifiedMatching MONDO:0009536 chronic mucocutaneous candidiasis due to intrinsic defect in lymphoblastic transformation skos:exactMatch MEDGEN:340881 semapv:UnspecifiedMatching MONDO:0009536 chronic mucocutaneous candidiasis due to intrinsic defect in lymphoblastic transformation skos:exactMatch OMIM:247450 lymphoblastic transformation, intrinsic defect 1n semapv:UnspecifiedMatching MONDO:0009536 chronic mucocutaneous candidiasis due to intrinsic defect in lymphoblastic transformation skos:exactMatch UMLS:C1855474 semapv:UnspecifiedMatching MONDO:0009536 chronic mucocutaneous candidiasis due to intrinsic defect in lymphoblastic transformation skos:exactMatch mesh:C565431 semapv:UnspecifiedMatching MONDO:0009537 lymphoid interstitial pneumonia skos:exactMatch DOID:0050159 lymphoid interstitial pneumonia semapv:UnspecifiedMatching MONDO:0009537 lymphoid interstitial pneumonia skos:exactMatch ICD10CM:J84.2 Lymphoid interstitial pneumonia semapv:UnspecifiedMatching MONDO:0009537 lymphoid interstitial pneumonia skos:exactMatch MEDGEN:82682 semapv:UnspecifiedMatching MONDO:0009537 lymphoid interstitial pneumonia skos:exactMatch NCIT:C27558 Lymphocytic Interstitial Pneumonia semapv:UnspecifiedMatching MONDO:0009537 lymphoid interstitial pneumonia skos:exactMatch OMIM:247610 lymphoid interstitial pneumonia semapv:UnspecifiedMatching MONDO:0009537 lymphoid interstitial pneumonia skos:exactMatch Orphanet:79128 Lymphoid interstitial pneumonia semapv:UnspecifiedMatching MONDO:0009537 lymphoid interstitial pneumonia skos:exactMatch SCTID:44274007 semapv:UnspecifiedMatching MONDO:0009537 lymphoid interstitial pneumonia skos:exactMatch UMLS:C0264511 semapv:UnspecifiedMatching MONDO:0009537 lymphoid interstitial pneumonia skos:exactMatch icd11.foundation:1140418798 Lymphoid interstitial pneumonia semapv:UnspecifiedMatching MONDO:0009537 lymphoid interstitial pneumonia skos:exactMatch mesh:C562489 semapv:UnspecifiedMatching MONDO:0009538 lymphoid system deterioration, progressive skos:exactMatch MEDGEN:340880 semapv:UnspecifiedMatching MONDO:0009538 lymphoid system deterioration, progressive skos:exactMatch OMIM:247630 lymphoid system deterioration, progressive semapv:UnspecifiedMatching MONDO:0009538 lymphoid system deterioration, progressive skos:exactMatch UMLS:C1855473 semapv:UnspecifiedMatching MONDO:0009538 lymphoid system deterioration, progressive skos:exactMatch mesh:C565430 semapv:UnspecifiedMatching MONDO:0009539 lymphoblastic leukemia, acute, with lymphomatous features skos:exactMatch MEDGEN:340879 semapv:UnspecifiedMatching MONDO:0009539 lymphoblastic leukemia, acute, with lymphomatous features skos:exactMatch OMIM:247640 lymphoblastic leukemia, acute, with lymphomatous features semapv:UnspecifiedMatching MONDO:0009539 lymphoblastic leukemia, acute, with lymphomatous features skos:exactMatch UMLS:C1855472 semapv:UnspecifiedMatching MONDO:0009539 lymphoblastic leukemia, acute, with lymphomatous features skos:exactMatch mesh:C565429 semapv:UnspecifiedMatching MONDO:0009540 chronic mucocutaneous candidiasis due to lymphokine deficiency skos:exactMatch MEDGEN:340878 semapv:UnspecifiedMatching MONDO:0009540 chronic mucocutaneous candidiasis due to lymphokine deficiency skos:exactMatch OMIM:247650 lymphokine deficiency semapv:UnspecifiedMatching MONDO:0009540 chronic mucocutaneous candidiasis due to lymphokine deficiency skos:exactMatch UMLS:C1855471 semapv:UnspecifiedMatching MONDO:0009540 chronic mucocutaneous candidiasis due to lymphokine deficiency skos:exactMatch mesh:C565428 semapv:UnspecifiedMatching MONDO:0009541 lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmune hemolytic anemia, and glomerulonephritis skos:exactMatch MEDGEN:340877 semapv:UnspecifiedMatching MONDO:0009541 lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmune hemolytic anemia, and glomerulonephritis skos:exactMatch OMIM:247800 lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmune hemolytic anemia, and glomerulonephritis semapv:UnspecifiedMatching MONDO:0009541 lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmune hemolytic anemia, and glomerulonephritis skos:exactMatch UMLS:C1855470 semapv:UnspecifiedMatching MONDO:0009541 lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmune hemolytic anemia, and glomerulonephritis skos:exactMatch mesh:C565427 semapv:UnspecifiedMatching MONDO:0009542 lysine malabsorption syndrome skos:exactMatch MEDGEN:167097 semapv:UnspecifiedMatching MONDO:0009542 lysine malabsorption syndrome skos:exactMatch OMIM:247950 lysine malabsorption syndrome semapv:UnspecifiedMatching MONDO:0009542 lysine malabsorption syndrome skos:exactMatch UMLS:C0796023 semapv:UnspecifiedMatching MONDO:0009542 lysine malabsorption syndrome skos:exactMatch mesh:C563080 semapv:UnspecifiedMatching MONDO:0009543 prominent glabella-microcephaly-hypogenitalism syndrome skos:exactMatch MEDGEN:162900 semapv:UnspecifiedMatching MONDO:0009543 prominent glabella-microcephaly-hypogenitalism syndrome skos:exactMatch OMIM:247990 macdermot-winter syndrome semapv:UnspecifiedMatching MONDO:0009543 prominent glabella-microcephaly-hypogenitalism syndrome skos:exactMatch Orphanet:2083 Prominent glabella-microcephaly-hypogenitalism syndrome semapv:UnspecifiedMatching MONDO:0009543 prominent glabella-microcephaly-hypogenitalism syndrome skos:exactMatch UMLS:C0796024 semapv:UnspecifiedMatching MONDO:0009543 prominent glabella-microcephaly-hypogenitalism syndrome skos:exactMatch mesh:C537714 semapv:UnspecifiedMatching MONDO:0009544 macrocephaly/megalencephaly syndrome, autosomal recessive skos:exactMatch MEDGEN:812742 semapv:UnspecifiedMatching MONDO:0009544 macrocephaly/megalencephaly syndrome, autosomal recessive skos:exactMatch OMIM:248000 macrocephaly/megalencephaly syndrome, autosomal recessive semapv:UnspecifiedMatching MONDO:0009544 macrocephaly/megalencephaly syndrome, autosomal recessive skos:exactMatch UMLS:C3806412 semapv:UnspecifiedMatching MONDO:0009544 macrocephaly/megalencephaly syndrome, autosomal recessive skos:exactMatch mesh:C537453 semapv:UnspecifiedMatching MONDO:0009545 macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance skos:exactMatch MEDGEN:419847 semapv:UnspecifiedMatching MONDO:0009545 macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance skos:exactMatch OMIM:248010 macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance semapv:UnspecifiedMatching MONDO:0009545 macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance skos:exactMatch UMLS:C2931597 semapv:UnspecifiedMatching MONDO:0009545 macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance skos:exactMatch mesh:C537721 semapv:UnspecifiedMatching MONDO:0009546 macrosomia adiposa congenita skos:exactMatch MEDGEN:340875 semapv:UnspecifiedMatching MONDO:0009546 macrosomia adiposa congenita skos:exactMatch OMIM:248100 macrosomia adiposa congenita semapv:UnspecifiedMatching MONDO:0009546 macrosomia adiposa congenita skos:exactMatch UMLS:C1855468 semapv:UnspecifiedMatching MONDO:0009546 macrosomia adiposa congenita skos:exactMatch mesh:C565425 semapv:UnspecifiedMatching MONDO:0009547 macrosomia-microphthalmia-cleft palate syndrome skos:exactMatch MEDGEN:340874 semapv:UnspecifiedMatching MONDO:0009547 macrosomia-microphthalmia-cleft palate syndrome skos:exactMatch OMIM:248110 macrosomia with microphthalmia, lethal semapv:UnspecifiedMatching MONDO:0009547 macrosomia-microphthalmia-cleft palate syndrome skos:exactMatch Orphanet:2432 Macrosomia-microphthalmia-cleft palate syndrome semapv:UnspecifiedMatching MONDO:0009547 macrosomia-microphthalmia-cleft palate syndrome skos:exactMatch UMLS:C1855467 semapv:UnspecifiedMatching MONDO:0009547 macrosomia-microphthalmia-cleft palate syndrome skos:exactMatch mesh:C537830 semapv:UnspecifiedMatching MONDO:0009548 renal hypomagnesemia 5 with ocular involvement skos:exactMatch DOID:0060881 renal hypomagnesemia 5 with ocular involvement semapv:UnspecifiedMatching MONDO:0009548 renal hypomagnesemia 5 with ocular involvement skos:exactMatch MEDGEN:1648449 semapv:UnspecifiedMatching MONDO:0009548 renal hypomagnesemia 5 with ocular involvement skos:exactMatch OMIM:248190 hypomagnesemia 5, renal, with or without ocular involvement semapv:UnspecifiedMatching MONDO:0009548 renal hypomagnesemia 5 with ocular involvement skos:exactMatch Orphanet:2196 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement semapv:UnspecifiedMatching MONDO:0009548 renal hypomagnesemia 5 with ocular involvement skos:exactMatch UMLS:C4721891 semapv:UnspecifiedMatching MONDO:0009548 renal hypomagnesemia 5 with ocular involvement skos:exactMatch mesh:C536148 semapv:UnspecifiedMatching MONDO:0009549 severe early-childhood-onset retinal dystrophy skos:exactMatch DOID:0061241 semapv:UnspecifiedMatching MONDO:0009549 severe early-childhood-onset retinal dystrophy skos:exactMatch MEDGEN:383691 semapv:UnspecifiedMatching MONDO:0009549 severe early-childhood-onset retinal dystrophy skos:exactMatch OMIM:248200 stargardt disease 1 semapv:UnspecifiedMatching MONDO:0009549 severe early-childhood-onset retinal dystrophy skos:exactMatch Orphanet:364055 Severe early-childhood-onset retinal dystrophy semapv:UnspecifiedMatching MONDO:0009549 severe early-childhood-onset retinal dystrophy skos:exactMatch SCTID:716663009 semapv:UnspecifiedMatching MONDO:0009549 severe early-childhood-onset retinal dystrophy skos:exactMatch UMLS:C1855465 semapv:UnspecifiedMatching MONDO:0009550 renal hypomagnesemia 3 skos:exactMatch DOID:0060880 renal hypomagnesemia 3 semapv:UnspecifiedMatching MONDO:0009550 renal hypomagnesemia 3 skos:exactMatch MEDGEN:120640 semapv:UnspecifiedMatching MONDO:0009550 renal hypomagnesemia 3 skos:exactMatch OMIM:248250 hypomagnesemia 3, renal semapv:UnspecifiedMatching MONDO:0009550 renal hypomagnesemia 3 skos:exactMatch Orphanet:31043 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement semapv:UnspecifiedMatching MONDO:0009550 renal hypomagnesemia 3 skos:exactMatch SCTID:725033008 semapv:UnspecifiedMatching MONDO:0009550 renal hypomagnesemia 3 skos:exactMatch UMLS:C0268448 semapv:UnspecifiedMatching MONDO:0009550 renal hypomagnesemia 3 skos:exactMatch mesh:C537153 semapv:UnspecifiedMatching MONDO:0009551 magnesium, elevated red cell skos:exactMatch MEDGEN:343360 semapv:UnspecifiedMatching MONDO:0009551 magnesium, elevated red cell skos:exactMatch OMIM:248260 magnesium, elevated red cell semapv:UnspecifiedMatching MONDO:0009551 magnesium, elevated red cell skos:exactMatch UMLS:C1855464 semapv:UnspecifiedMatching MONDO:0009552 mal de Meleda skos:exactMatch DOID:0060862 mal de Meleda semapv:UnspecifiedMatching MONDO:0009552 mal de Meleda skos:exactMatch MEDGEN:7522 semapv:UnspecifiedMatching MONDO:0009552 mal de Meleda skos:exactMatch OMIM:248300 mal lange meleda semapv:UnspecifiedMatching MONDO:0009552 mal de Meleda skos:exactMatch Orphanet:87503 Mal de Meleda semapv:UnspecifiedMatching MONDO:0009552 mal de Meleda skos:exactMatch SCTID:239069005 semapv:UnspecifiedMatching MONDO:0009552 mal de Meleda skos:exactMatch UMLS:C0025221 semapv:UnspecifiedMatching MONDO:0009552 mal de Meleda skos:exactMatch icd11.foundation:1850911834 Mal de Meleda semapv:UnspecifiedMatching MONDO:0009553 obsolete Plasmodium falciparum blood infection level skos:exactMatch OMIM:248310 plasmodium falciparum blood infection level semapv:UnspecifiedMatching MONDO:0009554 3MC syndrome 3 skos:exactMatch DOID:0060577 3MC syndrome 3 semapv:UnspecifiedMatching MONDO:0009554 3MC syndrome 3 skos:exactMatch MEDGEN:208657 semapv:UnspecifiedMatching MONDO:0009554 3MC syndrome 3 skos:exactMatch OMIM:248340 3mc syndrome 3 semapv:UnspecifiedMatching MONDO:0009554 3MC syndrome 3 skos:exactMatch UMLS:C0796032 semapv:UnspecifiedMatching MONDO:0009554 3MC syndrome 3 skos:exactMatch mesh:C535704 semapv:UnspecifiedMatching MONDO:0009555 malocclusion and short stature skos:exactMatch MEDGEN:343357 semapv:UnspecifiedMatching MONDO:0009555 malocclusion and short stature skos:exactMatch OMIM:248350 malocclusion and short stature semapv:UnspecifiedMatching MONDO:0009555 malocclusion and short stature skos:exactMatch UMLS:C1855453 semapv:UnspecifiedMatching MONDO:0009555 malocclusion and short stature skos:exactMatch mesh:C565421 semapv:UnspecifiedMatching MONDO:0009556 malonic aciduria skos:exactMatch MEDGEN:91001 semapv:UnspecifiedMatching MONDO:0009556 malonic aciduria skos:exactMatch OMIM:248360 malonyl-coa decarboxylase deficiency semapv:UnspecifiedMatching MONDO:0009556 malonic aciduria skos:exactMatch Orphanet:943 Malonic aciduria semapv:UnspecifiedMatching MONDO:0009556 malonic aciduria skos:exactMatch SCTID:361203007 semapv:UnspecifiedMatching MONDO:0009556 malonic aciduria skos:exactMatch UMLS:C0342793 semapv:UnspecifiedMatching MONDO:0009556 malonic aciduria skos:exactMatch icd11.foundation:1373430210 Malonic aciduria semapv:UnspecifiedMatching MONDO:0009556 malonic aciduria skos:exactMatch mesh:C535702 semapv:UnspecifiedMatching MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy skos:exactMatch DOID:0081128 mandibuloacral dysplasia type A lipodystrophy semapv:UnspecifiedMatching MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy skos:exactMatch MEDGEN:1757618 semapv:UnspecifiedMatching MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy skos:exactMatch NCIT:C123417 Mandibuloacral Dysplasia with Type A Lipodystrophy semapv:UnspecifiedMatching MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy skos:exactMatch OMIM:248370 mandibuloacral dysplasia with type a lipodystrophy semapv:UnspecifiedMatching MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy skos:exactMatch Orphanet:90153 Mandibuloacral dysplasia with type A lipodystrophy semapv:UnspecifiedMatching MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy skos:exactMatch SCTID:109419009 semapv:UnspecifiedMatching MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy skos:exactMatch UMLS:C5399785 semapv:UnspecifiedMatching MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy skos:exactMatch icd11.foundation:1756335062 Mandibuloacral dysplasia with type A lipodystrophy semapv:UnspecifiedMatching MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy skos:exactMatch mesh:C535705 semapv:UnspecifiedMatching MONDO:0009558 Treacher Collins syndrome 3 skos:exactMatch DOID:0080791 Treacher Collins syndrome 3 semapv:UnspecifiedMatching MONDO:0009558 Treacher Collins syndrome 3 skos:exactMatch MEDGEN:340868 semapv:UnspecifiedMatching MONDO:0009558 Treacher Collins syndrome 3 skos:exactMatch OMIM:248390 treacher collins syndrome 3 semapv:UnspecifiedMatching MONDO:0009558 Treacher Collins syndrome 3 skos:exactMatch UMLS:C1855433 semapv:UnspecifiedMatching MONDO:0009558 Treacher Collins syndrome 3 skos:exactMatch mesh:C535707 semapv:UnspecifiedMatching MONDO:0009559 mandibulofacial dysostosis with mental deficiency skos:exactMatch MEDGEN:1632207 semapv:UnspecifiedMatching MONDO:0009559 mandibulofacial dysostosis with mental deficiency skos:exactMatch OMIM:248400 mandibulofacial dysostosis with impaired intellectual development semapv:UnspecifiedMatching MONDO:0009559 mandibulofacial dysostosis with mental deficiency skos:exactMatch UMLS:C4692584 semapv:UnspecifiedMatching MONDO:0009559 mandibulofacial dysostosis with mental deficiency skos:exactMatch mesh:C565420 semapv:UnspecifiedMatching MONDO:0009560 oculotrichoanal syndrome skos:exactMatch MEDGEN:383680 semapv:UnspecifiedMatching MONDO:0009560 oculotrichoanal syndrome skos:exactMatch OMIM:248450 manitoba oculotrichoanal syndrome semapv:UnspecifiedMatching MONDO:0009560 oculotrichoanal syndrome skos:exactMatch Orphanet:2717 Oculotrichoanal syndrome semapv:UnspecifiedMatching MONDO:0009560 oculotrichoanal syndrome skos:exactMatch SCTID:703539006 semapv:UnspecifiedMatching MONDO:0009560 oculotrichoanal syndrome skos:exactMatch UMLS:C1855425 semapv:UnspecifiedMatching MONDO:0009560 oculotrichoanal syndrome skos:exactMatch mesh:C536022 semapv:UnspecifiedMatching MONDO:0009561 alpha-mannosidosis skos:exactMatch DOID:3413 alpha-mannosidosis semapv:UnspecifiedMatching MONDO:0009561 alpha-mannosidosis skos:exactMatch MEDGEN:7467 semapv:UnspecifiedMatching MONDO:0009561 alpha-mannosidosis skos:exactMatch NCIT:C84548 Alpha-Mannosidosis semapv:UnspecifiedMatching MONDO:0009561 alpha-mannosidosis skos:exactMatch OMIM:248500 mannosidosis, alpha b, lysosomal semapv:UnspecifiedMatching MONDO:0009561 alpha-mannosidosis skos:exactMatch Orphanet:61 Alpha-mannosidosis semapv:UnspecifiedMatching MONDO:0009561 alpha-mannosidosis skos:exactMatch SCTID:65524005 semapv:UnspecifiedMatching MONDO:0009561 alpha-mannosidosis skos:exactMatch UMLS:C0024748 semapv:UnspecifiedMatching MONDO:0009561 alpha-mannosidosis skos:exactMatch icd11.foundation:1944256516 Alpha-mannosidosis semapv:UnspecifiedMatching MONDO:0009561 alpha-mannosidosis skos:exactMatch mesh:D008363 semapv:UnspecifiedMatching MONDO:0009562 beta-mannosidosis skos:exactMatch DOID:3633 beta-mannosidosis semapv:UnspecifiedMatching MONDO:0009562 beta-mannosidosis skos:exactMatch MEDGEN:888408 semapv:UnspecifiedMatching MONDO:0009562 beta-mannosidosis skos:exactMatch NCIT:C84596 Beta-Mannosidosis semapv:UnspecifiedMatching MONDO:0009562 beta-mannosidosis skos:exactMatch OMIM:248510 mannosidosis, beta a, lysosomal semapv:UnspecifiedMatching MONDO:0009562 beta-mannosidosis skos:exactMatch Orphanet:118 Beta-mannosidosis semapv:UnspecifiedMatching MONDO:0009562 beta-mannosidosis skos:exactMatch SCTID:238047006 semapv:UnspecifiedMatching MONDO:0009562 beta-mannosidosis skos:exactMatch UMLS:C4048196 semapv:UnspecifiedMatching MONDO:0009562 beta-mannosidosis skos:exactMatch icd11.foundation:1578707401 Beta-mannosidosis semapv:UnspecifiedMatching MONDO:0009562 beta-mannosidosis skos:exactMatch mesh:D044905 semapv:UnspecifiedMatching MONDO:0009563 maple syrup urine disease skos:exactMatch DOID:9269 maple syrup urine disease semapv:UnspecifiedMatching MONDO:0009563 maple syrup urine disease skos:exactMatch ICD10CM:E71.0 Maple-syrup-urine disease semapv:UnspecifiedMatching MONDO:0009563 maple syrup urine disease skos:exactMatch MEDGEN:6217 semapv:UnspecifiedMatching MONDO:0009563 maple syrup urine disease skos:exactMatch NCIT:C34806 Maple Syrup Urine Disease semapv:UnspecifiedMatching MONDO:0009563 maple syrup urine disease skos:exactMatch OMIMPS:248600 Maple syrup urine disease semapv:UnspecifiedMatching MONDO:0009563 maple syrup urine disease skos:exactMatch Orphanet:511 Maple syrup urine disease semapv:UnspecifiedMatching MONDO:0009563 maple syrup urine disease skos:exactMatch SCTID:27718001 semapv:UnspecifiedMatching MONDO:0009563 maple syrup urine disease skos:exactMatch UMLS:C0024776 semapv:UnspecifiedMatching MONDO:0009563 maple syrup urine disease skos:exactMatch icd11.foundation:1623706568 Maple-syrup-urine disease semapv:UnspecifiedMatching MONDO:0009563 maple syrup urine disease skos:exactMatch mesh:D008375 semapv:UnspecifiedMatching MONDO:0009564 Marden-Walker syndrome skos:exactMatch MEDGEN:163206 semapv:UnspecifiedMatching MONDO:0009564 Marden-Walker syndrome skos:exactMatch OMIM:248700 marden-walker syndrome semapv:UnspecifiedMatching MONDO:0009564 Marden-Walker syndrome skos:exactMatch Orphanet:2461 Marden-Walker syndrome semapv:UnspecifiedMatching MONDO:0009564 Marden-Walker syndrome skos:exactMatch SCTID:449824004 semapv:UnspecifiedMatching MONDO:0009564 Marden-Walker syndrome skos:exactMatch UMLS:C0796033 semapv:UnspecifiedMatching MONDO:0009564 Marden-Walker syndrome skos:exactMatch icd11.foundation:1983460876 Marden-Walker syndrome semapv:UnspecifiedMatching MONDO:0009564 Marden-Walker syndrome skos:exactMatch mesh:C535910 semapv:UnspecifiedMatching MONDO:0009565 microcephaly-glomerulonephritis-marfanoid habitus syndrome skos:exactMatch MEDGEN:343327 semapv:UnspecifiedMatching MONDO:0009565 microcephaly-glomerulonephritis-marfanoid habitus syndrome skos:exactMatch OMIM:248760 marfanoid habitus with microcephaly and glomerulonephritis semapv:UnspecifiedMatching MONDO:0009565 microcephaly-glomerulonephritis-marfanoid habitus syndrome skos:exactMatch Orphanet:2172 Microcephaly-glomerulonephritis-marfanoid habitus syndrome semapv:UnspecifiedMatching MONDO:0009565 microcephaly-glomerulonephritis-marfanoid habitus syndrome skos:exactMatch UMLS:C1855348 semapv:UnspecifiedMatching MONDO:0009565 microcephaly-glomerulonephritis-marfanoid habitus syndrome skos:exactMatch mesh:C565411 semapv:UnspecifiedMatching MONDO:0009566 marfanoid habitus-autosomal recessive intellectual disability syndrome skos:exactMatch MEDGEN:343326 semapv:UnspecifiedMatching MONDO:0009566 marfanoid habitus-autosomal recessive intellectual disability syndrome skos:exactMatch OMIM:248770 marfanoid impaired intellectual developmental syndrome, autosomal semapv:UnspecifiedMatching MONDO:0009566 marfanoid habitus-autosomal recessive intellectual disability syndrome skos:exactMatch Orphanet:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0009566 marfanoid habitus-autosomal recessive intellectual disability syndrome skos:exactMatch UMLS:C1855347 semapv:UnspecifiedMatching MONDO:0009566 marfanoid habitus-autosomal recessive intellectual disability syndrome skos:exactMatch mesh:C565410 semapv:UnspecifiedMatching MONDO:0009567 Marinesco-Sjogren syndrome skos:exactMatch DOID:0080195 Marinesco-Sjogren syndrome semapv:UnspecifiedMatching MONDO:0009567 Marinesco-Sjogren syndrome skos:exactMatch MEDGEN:6222 semapv:UnspecifiedMatching MONDO:0009567 Marinesco-Sjogren syndrome skos:exactMatch OMIM:248800 marinesco-sjogren syndrome semapv:UnspecifiedMatching MONDO:0009567 Marinesco-Sjogren syndrome skos:exactMatch Orphanet:559 Marinesco-Sjögren syndrome semapv:UnspecifiedMatching MONDO:0009567 Marinesco-Sjogren syndrome skos:exactMatch SCTID:80734006 semapv:UnspecifiedMatching MONDO:0009567 Marinesco-Sjogren syndrome skos:exactMatch UMLS:C0024814 semapv:UnspecifiedMatching MONDO:0009568 mast syndrome skos:exactMatch DOID:0060245 Mast syndrome semapv:UnspecifiedMatching MONDO:0009568 mast syndrome skos:exactMatch MEDGEN:343325 semapv:UnspecifiedMatching MONDO:0009568 mast syndrome skos:exactMatch OMIM:248900 mast syndrome semapv:UnspecifiedMatching MONDO:0009568 mast syndrome skos:exactMatch Orphanet:101001 Autosomal recessive spastic paraplegia type 21 semapv:UnspecifiedMatching MONDO:0009568 mast syndrome skos:exactMatch SCTID:764734003 semapv:UnspecifiedMatching MONDO:0009568 mast syndrome skos:exactMatch UMLS:C1855346 semapv:UnspecifiedMatching MONDO:0009568 mast syndrome skos:exactMatch mesh:C565409 semapv:UnspecifiedMatching MONDO:0009569 Hennekam-Beemer syndrome skos:exactMatch MEDGEN:462843 semapv:UnspecifiedMatching MONDO:0009569 Hennekam-Beemer syndrome skos:exactMatch OMIM:248910 cutaneous mastocytosis, conductive hearing loss and microtia semapv:UnspecifiedMatching MONDO:0009569 Hennekam-Beemer syndrome skos:exactMatch Orphanet:2135 Cutaneous mastocytosis-deafness-microtia syndrome semapv:UnspecifiedMatching MONDO:0009569 Hennekam-Beemer syndrome skos:exactMatch SCTID:722453009 semapv:UnspecifiedMatching MONDO:0009569 Hennekam-Beemer syndrome skos:exactMatch UMLS:C3151493 semapv:UnspecifiedMatching MONDO:0009569 Hennekam-Beemer syndrome skos:exactMatch mesh:C536033 semapv:UnspecifiedMatching MONDO:0009570 McDonough syndrome skos:exactMatch MEDGEN:162902 semapv:UnspecifiedMatching MONDO:0009570 McDonough syndrome skos:exactMatch OMIM:248950 mcdonough syndrome semapv:UnspecifiedMatching MONDO:0009570 McDonough syndrome skos:exactMatch Orphanet:2471 McDonough syndrome semapv:UnspecifiedMatching MONDO:0009570 McDonough syndrome skos:exactMatch SCTID:715441004 semapv:UnspecifiedMatching MONDO:0009570 McDonough syndrome skos:exactMatch UMLS:C0796038 semapv:UnspecifiedMatching MONDO:0009570 McDonough syndrome skos:exactMatch icd11.foundation:1349711155 McDonough syndrome semapv:UnspecifiedMatching MONDO:0009570 McDonough syndrome skos:exactMatch mesh:C538158 semapv:UnspecifiedMatching MONDO:0009571 Meckel syndrome, type 1 skos:exactMatch DOID:0070115 Meckel syndrome 1 semapv:UnspecifiedMatching MONDO:0009571 Meckel syndrome, type 1 skos:exactMatch MEDGEN:811346 semapv:UnspecifiedMatching MONDO:0009571 Meckel syndrome, type 1 skos:exactMatch OMIM:249000 meckel syndrome, type 1 semapv:UnspecifiedMatching MONDO:0009571 Meckel syndrome, type 1 skos:exactMatch UMLS:C3714506 semapv:UnspecifiedMatching MONDO:0009571 Meckel syndrome, type 1 skos:exactMatch mesh:C536133 semapv:UnspecifiedMatching MONDO:0009572 autosomal recessive familial Mediterranean fever skos:exactMatch OMIM:249100 familial mediterranean fever semapv:UnspecifiedMatching MONDO:0009573 megaepiphyseal dwarfism skos:exactMatch MEDGEN:383654 semapv:UnspecifiedMatching MONDO:0009573 megaepiphyseal dwarfism skos:exactMatch OMIM:249230 megaepiphyseal dwarfism semapv:UnspecifiedMatching MONDO:0009573 megaepiphyseal dwarfism skos:exactMatch UMLS:C1855310 semapv:UnspecifiedMatching MONDO:0009573 megaepiphyseal dwarfism skos:exactMatch mesh:C536140 semapv:UnspecifiedMatching MONDO:0009574 megalencephaly with dysmyelination skos:exactMatch MEDGEN:344470 semapv:UnspecifiedMatching MONDO:0009574 megalencephaly with dysmyelination skos:exactMatch OMIM:249240 megalencephaly with dysmyelination semapv:UnspecifiedMatching MONDO:0009574 megalencephaly with dysmyelination skos:exactMatch UMLS:C1855309 semapv:UnspecifiedMatching MONDO:0009574 megalencephaly with dysmyelination skos:exactMatch mesh:C565408 semapv:UnspecifiedMatching MONDO:0009575 thiamine-responsive megaloblastic anemia syndrome skos:exactMatch DOID:0090117 thiamine-responsive megaloblastic anemia syndrome semapv:UnspecifiedMatching MONDO:0009575 thiamine-responsive megaloblastic anemia syndrome skos:exactMatch MEDGEN:83338 semapv:UnspecifiedMatching MONDO:0009575 thiamine-responsive megaloblastic anemia syndrome skos:exactMatch OMIM:249270 thiamine-responsive megaloblastic anemia syndrome semapv:UnspecifiedMatching MONDO:0009575 thiamine-responsive megaloblastic anemia syndrome skos:exactMatch Orphanet:49827 Thiamine-responsive megaloblastic anemia syndrome semapv:UnspecifiedMatching MONDO:0009575 thiamine-responsive megaloblastic anemia syndrome skos:exactMatch SCTID:237617006 semapv:UnspecifiedMatching MONDO:0009575 thiamine-responsive megaloblastic anemia syndrome skos:exactMatch UMLS:C0342287 semapv:UnspecifiedMatching MONDO:0009575 thiamine-responsive megaloblastic anemia syndrome skos:exactMatch mesh:C536510 semapv:UnspecifiedMatching MONDO:0009576 megalocornea skos:exactMatch DOID:0060305 megalocornea semapv:UnspecifiedMatching MONDO:0009576 megalocornea skos:exactMatch MEDGEN:1807965 semapv:UnspecifiedMatching MONDO:0009576 megalocornea skos:exactMatch OMIM:249300 megalocornea semapv:UnspecifiedMatching MONDO:0009576 megalocornea skos:exactMatch SCTID:268158009 semapv:UnspecifiedMatching MONDO:0009576 megalocornea skos:exactMatch UMLS:C5574682 semapv:UnspecifiedMatching MONDO:0009576 megalocornea skos:exactMatch icd11.foundation:58849242 Megalocornea semapv:UnspecifiedMatching MONDO:0009576 megalocornea skos:exactMatch mesh:C562829 semapv:UnspecifiedMatching MONDO:0009577 megalocornea-intellectual disability syndrome skos:exactMatch MEDGEN:162904 semapv:UnspecifiedMatching MONDO:0009577 megalocornea-intellectual disability syndrome skos:exactMatch OMIM:249310 neuhauser syndrome semapv:UnspecifiedMatching MONDO:0009577 megalocornea-intellectual disability syndrome skos:exactMatch Orphanet:2479 Megalocornea-intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0009577 megalocornea-intellectual disability syndrome skos:exactMatch SCTID:733522005 semapv:UnspecifiedMatching MONDO:0009577 megalocornea-intellectual disability syndrome skos:exactMatch UMLS:C0796086 semapv:UnspecifiedMatching MONDO:0009577 megalocornea-intellectual disability syndrome skos:exactMatch mesh:C536143 semapv:UnspecifiedMatching MONDO:0009578 neurocutaneous melanocytosis skos:exactMatch MEDGEN:154259 semapv:UnspecifiedMatching MONDO:0009578 neurocutaneous melanocytosis skos:exactMatch NCIT:C175215 Neurocutaneous Melanosis semapv:UnspecifiedMatching MONDO:0009578 neurocutaneous melanocytosis skos:exactMatch OMIM:249400 melanosis, neurocutaneous semapv:UnspecifiedMatching MONDO:0009578 neurocutaneous melanocytosis skos:exactMatch Orphanet:2481 Neurocutaneous melanocytosis semapv:UnspecifiedMatching MONDO:0009578 neurocutaneous melanocytosis skos:exactMatch UMLS:C0544862 semapv:UnspecifiedMatching MONDO:0009578 neurocutaneous melanocytosis skos:exactMatch icd11.foundation:403221860 Neurocutaneous melanocytosis semapv:UnspecifiedMatching MONDO:0009578 neurocutaneous melanocytosis skos:exactMatch mesh:C537387 semapv:UnspecifiedMatching MONDO:0009579 Frank-Ter Haar syndrome skos:exactMatch DOID:0111789 Frank-Ter Haar syndrome semapv:UnspecifiedMatching MONDO:0009579 Frank-Ter Haar syndrome skos:exactMatch MEDGEN:383652 semapv:UnspecifiedMatching MONDO:0009579 Frank-Ter Haar syndrome skos:exactMatch OMIM:249420 frank-ter haar syndrome semapv:UnspecifiedMatching MONDO:0009579 Frank-Ter Haar syndrome skos:exactMatch Orphanet:137834 Frank-Ter Haar syndrome semapv:UnspecifiedMatching MONDO:0009579 Frank-Ter Haar syndrome skos:exactMatch SCTID:720958002 semapv:UnspecifiedMatching MONDO:0009579 Frank-Ter Haar syndrome skos:exactMatch UMLS:C1855305 semapv:UnspecifiedMatching MONDO:0009579 Frank-Ter Haar syndrome skos:exactMatch icd11.foundation:1643548765 Frank-ter Haar syndrome semapv:UnspecifiedMatching MONDO:0009579 Frank-Ter Haar syndrome skos:exactMatch mesh:C536577 semapv:UnspecifiedMatching MONDO:0009579 Frank-Ter Haar syndrome skos:exactMatch mesh:C537274 semapv:UnspecifiedMatching MONDO:0009580 intellectual disability, autosomal recessive 1 skos:exactMatch DOID:0081177 autosomal recessive intellectual developmental disorder 1 semapv:UnspecifiedMatching MONDO:0009580 intellectual disability, autosomal recessive 1 skos:exactMatch MEDGEN:344468 semapv:UnspecifiedMatching MONDO:0009580 intellectual disability, autosomal recessive 1 skos:exactMatch OMIM:249500 intellectual developmental disorder, autosomal recessive 1 semapv:UnspecifiedMatching MONDO:0009580 intellectual disability, autosomal recessive 1 skos:exactMatch UMLS:C1855304 semapv:UnspecifiedMatching MONDO:0009580 intellectual disability, autosomal recessive 1 skos:exactMatch mesh:C565406 semapv:UnspecifiedMatching MONDO:0009581 intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome skos:exactMatch MEDGEN:343317 semapv:UnspecifiedMatching MONDO:0009581 intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome skos:exactMatch OMIM:249599 intellectual developmental disorder, belgian type semapv:UnspecifiedMatching MONDO:0009581 intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome skos:exactMatch Orphanet:3044 Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome semapv:UnspecifiedMatching MONDO:0009581 intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome skos:exactMatch SCTID:722454003 semapv:UnspecifiedMatching MONDO:0009581 intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome skos:exactMatch UMLS:C1855303 semapv:UnspecifiedMatching MONDO:0009581 intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome skos:exactMatch mesh:C537447 semapv:UnspecifiedMatching MONDO:0009582 Mietens syndrome skos:exactMatch DOID:0061196 Mietens syndrome semapv:UnspecifiedMatching MONDO:0009582 Mietens syndrome skos:exactMatch MEDGEN:82695 semapv:UnspecifiedMatching MONDO:0009582 Mietens syndrome skos:exactMatch OMIM:249600 mietens-weber syndrome semapv:UnspecifiedMatching MONDO:0009582 Mietens syndrome skos:exactMatch Orphanet:2557 Mietens syndrome semapv:UnspecifiedMatching MONDO:0009582 Mietens syndrome skos:exactMatch SCTID:40291001 semapv:UnspecifiedMatching MONDO:0009582 Mietens syndrome skos:exactMatch UMLS:C0265249 semapv:UnspecifiedMatching MONDO:0009582 Mietens syndrome skos:exactMatch icd11.foundation:1399358623 Mietens syndrome semapv:UnspecifiedMatching MONDO:0009582 Mietens syndrome skos:exactMatch mesh:C537444 semapv:UnspecifiedMatching MONDO:0009583 blepharophimosis - intellectual disability syndrome, Ohdo type skos:exactMatch MEDGEN:162905 semapv:UnspecifiedMatching MONDO:0009583 blepharophimosis - intellectual disability syndrome, Ohdo type skos:exactMatch OMIM:249620 ohdo syndrome semapv:UnspecifiedMatching MONDO:0009583 blepharophimosis - intellectual disability syndrome, Ohdo type skos:exactMatch Orphanet:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type semapv:UnspecifiedMatching MONDO:0009583 blepharophimosis - intellectual disability syndrome, Ohdo type skos:exactMatch SCTID:412787009 semapv:UnspecifiedMatching MONDO:0009583 blepharophimosis - intellectual disability syndrome, Ohdo type skos:exactMatch UMLS:C0796094 semapv:UnspecifiedMatching MONDO:0009584 intellectual disability, Buenos-Aires type skos:exactMatch MEDGEN:167102 semapv:UnspecifiedMatching MONDO:0009584 intellectual disability, Buenos-Aires type skos:exactMatch OMIM:249630 mutchinick syndrome semapv:UnspecifiedMatching MONDO:0009584 intellectual disability, Buenos-Aires type skos:exactMatch Orphanet:3079 Intellectual disability, Buenos-Aires type semapv:UnspecifiedMatching MONDO:0009584 intellectual disability, Buenos-Aires type skos:exactMatch SCTID:725906006 semapv:UnspecifiedMatching MONDO:0009584 intellectual disability, Buenos-Aires type skos:exactMatch UMLS:C0796080 semapv:UnspecifiedMatching MONDO:0009584 intellectual disability, Buenos-Aires type skos:exactMatch mesh:C563095 semapv:UnspecifiedMatching MONDO:0009585 encephalopathy due to beta-mercaptolactate-cysteine disulfiduria skos:exactMatch MEDGEN:208661 semapv:UnspecifiedMatching MONDO:0009585 encephalopathy due to beta-mercaptolactate-cysteine disulfiduria skos:exactMatch OMIM:249650 mercaptolactate-cysteine disulfiduria semapv:UnspecifiedMatching MONDO:0009585 encephalopathy due to beta-mercaptolactate-cysteine disulfiduria skos:exactMatch Orphanet:1035 Beta-mercaptolactate cysteine disulfiduria semapv:UnspecifiedMatching MONDO:0009585 encephalopathy due to beta-mercaptolactate-cysteine disulfiduria skos:exactMatch UMLS:C0796055 semapv:UnspecifiedMatching MONDO:0009585 encephalopathy due to beta-mercaptolactate-cysteine disulfiduria skos:exactMatch mesh:C563085 semapv:UnspecifiedMatching MONDO:0009587 mesoaxial hexadactyly and cardiac malformation skos:exactMatch MEDGEN:167099 semapv:UnspecifiedMatching MONDO:0009587 mesoaxial hexadactyly and cardiac malformation skos:exactMatch OMIM:249670 mesoaxial hexadactyly and cardiac malformation semapv:UnspecifiedMatching MONDO:0009587 mesoaxial hexadactyly and cardiac malformation skos:exactMatch UMLS:C0796057 semapv:UnspecifiedMatching MONDO:0009587 mesoaxial hexadactyly and cardiac malformation skos:exactMatch mesh:C563087 semapv:UnspecifiedMatching MONDO:0009588 Langer mesomelic dysplasia skos:exactMatch MEDGEN:96585 semapv:UnspecifiedMatching MONDO:0009588 Langer mesomelic dysplasia skos:exactMatch NCIT:C126876 Langer Mesomelic Dysplasia semapv:UnspecifiedMatching MONDO:0009588 Langer mesomelic dysplasia skos:exactMatch OMIM:249700 langer mesomelic dysplasia semapv:UnspecifiedMatching MONDO:0009588 Langer mesomelic dysplasia skos:exactMatch Orphanet:2632 Langer mesomelic dysplasia semapv:UnspecifiedMatching MONDO:0009588 Langer mesomelic dysplasia skos:exactMatch SCTID:38494008 semapv:UnspecifiedMatching MONDO:0009588 Langer mesomelic dysplasia skos:exactMatch UMLS:C0432230 semapv:UnspecifiedMatching MONDO:0009588 Langer mesomelic dysplasia skos:exactMatch mesh:C537267 semapv:UnspecifiedMatching MONDO:0009589 mesomelic dwarfism-cleft palate-camptodactyly syndrome skos:exactMatch MEDGEN:340833 semapv:UnspecifiedMatching MONDO:0009589 mesomelic dwarfism-cleft palate-camptodactyly syndrome skos:exactMatch OMIM:249710 mesomelic limb shortening and bowing semapv:UnspecifiedMatching MONDO:0009589 mesomelic dwarfism-cleft palate-camptodactyly syndrome skos:exactMatch Orphanet:2631 Mesomelic dwarfism-cleft palate-camptodactyly syndrome semapv:UnspecifiedMatching MONDO:0009589 mesomelic dwarfism-cleft palate-camptodactyly syndrome skos:exactMatch SCTID:715471007 semapv:UnspecifiedMatching MONDO:0009589 mesomelic dwarfism-cleft palate-camptodactyly syndrome skos:exactMatch UMLS:C1855273 semapv:UnspecifiedMatching MONDO:0009589 mesomelic dwarfism-cleft palate-camptodactyly syndrome skos:exactMatch mesh:C565404 semapv:UnspecifiedMatching MONDO:0009590 metachromatic leukodystrophy due to saposin B deficiency skos:exactMatch MEDGEN:120624 semapv:UnspecifiedMatching MONDO:0009590 metachromatic leukodystrophy due to saposin B deficiency skos:exactMatch OMIM:249900 metachromatic leukodystrophy due to saposin B deficiency semapv:UnspecifiedMatching MONDO:0009590 metachromatic leukodystrophy due to saposin B deficiency skos:exactMatch SCTID:1003375005 semapv:UnspecifiedMatching MONDO:0009590 metachromatic leukodystrophy due to saposin B deficiency skos:exactMatch SCTID:297278001 semapv:UnspecifiedMatching MONDO:0009590 metachromatic leukodystrophy due to saposin B deficiency skos:exactMatch SCTID:68390005 semapv:UnspecifiedMatching MONDO:0009590 metachromatic leukodystrophy due to saposin B deficiency skos:exactMatch UMLS:C0268262 semapv:UnspecifiedMatching MONDO:0009590 metachromatic leukodystrophy due to saposin B deficiency skos:exactMatch mesh:C562609 semapv:UnspecifiedMatching MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:exactMatch MEDGEN:155528 semapv:UnspecifiedMatching MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:exactMatch OMIM:250100 metachromatic leukodystrophy semapv:UnspecifiedMatching MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:exactMatch Orphanet:309263 Metachromatic leukodystrophy, juvenile form semapv:UnspecifiedMatching MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:exactMatch SCTID:44359008 semapv:UnspecifiedMatching MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:exactMatch UMLS:C0751276 semapv:UnspecifiedMatching MONDO:0009592 metaphyseal acroscyphodysplasia skos:exactMatch MEDGEN:344453 semapv:UnspecifiedMatching MONDO:0009592 metaphyseal acroscyphodysplasia skos:exactMatch OMIM:250215 metaphyseal acroscyphodysplasia semapv:UnspecifiedMatching MONDO:0009592 metaphyseal acroscyphodysplasia skos:exactMatch UMLS:C1855243 semapv:UnspecifiedMatching MONDO:0009592 metaphyseal acroscyphodysplasia skos:exactMatch icd11.foundation:1994645064 Metaphyseal acroscyphodysplasia semapv:UnspecifiedMatching MONDO:0009592 metaphyseal acroscyphodysplasia skos:exactMatch mesh:C537350 semapv:UnspecifiedMatching MONDO:0009593 spondylometaphyseal dysplasia, Sedaghatian type skos:exactMatch DOID:0112298 spondylometaphyseal dysplasia Sedaghatian type semapv:UnspecifiedMatching MONDO:0009593 spondylometaphyseal dysplasia, Sedaghatian type skos:exactMatch MEDGEN:340816 semapv:UnspecifiedMatching MONDO:0009593 spondylometaphyseal dysplasia, Sedaghatian type skos:exactMatch OMIM:250220 spondylometaphyseal dysplasia, sedaghatian type semapv:UnspecifiedMatching MONDO:0009593 spondylometaphyseal dysplasia, Sedaghatian type skos:exactMatch Orphanet:93317 Spondylometaphyseal dysplasia, Sedaghatian type semapv:UnspecifiedMatching MONDO:0009593 spondylometaphyseal dysplasia, Sedaghatian type skos:exactMatch UMLS:C1855229 semapv:UnspecifiedMatching MONDO:0009593 spondylometaphyseal dysplasia, Sedaghatian type skos:exactMatch icd11.foundation:975738106 Spondylometaphyseal dysplasia, Sedaghatian type semapv:UnspecifiedMatching MONDO:0009593 spondylometaphyseal dysplasia, Sedaghatian type skos:exactMatch mesh:C535798 semapv:UnspecifiedMatching MONDO:0009594 metaphyseal chondrodysplasia, Kaitila type skos:exactMatch MEDGEN:344446 semapv:UnspecifiedMatching MONDO:0009594 metaphyseal chondrodysplasia, Kaitila type skos:exactMatch OMIM:250230 metaphyseal chondrodysplasia, kaitila type semapv:UnspecifiedMatching MONDO:0009594 metaphyseal chondrodysplasia, Kaitila type skos:exactMatch Orphanet:166038 Metaphyseal chondrodysplasia, Kaitila type semapv:UnspecifiedMatching MONDO:0009594 metaphyseal chondrodysplasia, Kaitila type skos:exactMatch UMLS:C1855217 semapv:UnspecifiedMatching MONDO:0009594 metaphyseal chondrodysplasia, Kaitila type skos:exactMatch mesh:C565400 semapv:UnspecifiedMatching MONDO:0009595 cartilage-hair hypoplasia skos:exactMatch DOID:14773 cartilage-hair hypoplasia semapv:UnspecifiedMatching MONDO:0009595 cartilage-hair hypoplasia skos:exactMatch MEDGEN:67398 semapv:UnspecifiedMatching MONDO:0009595 cartilage-hair hypoplasia skos:exactMatch NCIT:C61245 Cartilage Hair Hypoplasia semapv:UnspecifiedMatching MONDO:0009595 cartilage-hair hypoplasia skos:exactMatch OMIM:250250 cartilage-hair hypoplasia semapv:UnspecifiedMatching MONDO:0009595 cartilage-hair hypoplasia skos:exactMatch Orphanet:175 Cartilage-hair hypoplasia semapv:UnspecifiedMatching MONDO:0009595 cartilage-hair hypoplasia skos:exactMatch SCTID:7720002 semapv:UnspecifiedMatching MONDO:0009595 cartilage-hair hypoplasia skos:exactMatch UMLS:C0220748 semapv:UnspecifiedMatching MONDO:0009595 cartilage-hair hypoplasia skos:exactMatch icd11.foundation:469051294 Cartilage-hair hypoplasia semapv:UnspecifiedMatching MONDO:0009595 cartilage-hair hypoplasia skos:exactMatch mesh:C535916 semapv:UnspecifiedMatching MONDO:0009596 metaphyseal chondrodysplasia, Pena type skos:exactMatch MEDGEN:343289 semapv:UnspecifiedMatching MONDO:0009596 metaphyseal chondrodysplasia, Pena type skos:exactMatch OMIM:250300 metaphyseal chondrodysplasia, pena type semapv:UnspecifiedMatching MONDO:0009596 metaphyseal chondrodysplasia, Pena type skos:exactMatch UMLS:C1855195 semapv:UnspecifiedMatching MONDO:0009596 metaphyseal chondrodysplasia, Pena type skos:exactMatch mesh:C565399 semapv:UnspecifiedMatching MONDO:0009597 metaphyseal chondrodysplasia, Spahr type skos:exactMatch MEDGEN:140928 semapv:UnspecifiedMatching MONDO:0009597 metaphyseal chondrodysplasia, Spahr type skos:exactMatch OMIM:250400 metaphyseal dysplasia, spahr type semapv:UnspecifiedMatching MONDO:0009597 metaphyseal chondrodysplasia, Spahr type skos:exactMatch Orphanet:2501 Metaphyseal chondrodysplasia, Spahr type semapv:UnspecifiedMatching MONDO:0009597 metaphyseal chondrodysplasia, Spahr type skos:exactMatch SCTID:254084008 semapv:UnspecifiedMatching MONDO:0009597 metaphyseal chondrodysplasia, Spahr type skos:exactMatch UMLS:C0432225 semapv:UnspecifiedMatching MONDO:0009597 metaphyseal chondrodysplasia, Spahr type skos:exactMatch icd11.foundation:1856002752 Metaphyseal chondrodysplasia, Spahr type semapv:UnspecifiedMatching MONDO:0009597 metaphyseal chondrodysplasia, Spahr type skos:exactMatch mesh:C537353 semapv:UnspecifiedMatching MONDO:0009598 metaphyseal chondrodysplasia-retinitis pigmentosa syndrome skos:exactMatch MEDGEN:381579 semapv:UnspecifiedMatching MONDO:0009598 metaphyseal chondrodysplasia-retinitis pigmentosa syndrome skos:exactMatch OMIM:250410 retinitis pigmentosa with or without skeletal anomalies semapv:UnspecifiedMatching MONDO:0009598 metaphyseal chondrodysplasia-retinitis pigmentosa syndrome skos:exactMatch Orphanet:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome semapv:UnspecifiedMatching MONDO:0009598 metaphyseal chondrodysplasia-retinitis pigmentosa syndrome skos:exactMatch UMLS:C1855188 semapv:UnspecifiedMatching MONDO:0009598 metaphyseal chondrodysplasia-retinitis pigmentosa syndrome skos:exactMatch mesh:C565398 semapv:UnspecifiedMatching MONDO:0009599 metaphyseal dysostosis-intellectual disability-conductive deafness syndrome skos:exactMatch MEDGEN:344437 semapv:UnspecifiedMatching MONDO:0009599 metaphyseal dysostosis-intellectual disability-conductive deafness syndrome skos:exactMatch OMIM:250420 metaphyseal dysostosis, impaired intellectual development, and conductive deafness semapv:UnspecifiedMatching MONDO:0009599 metaphyseal dysostosis-intellectual disability-conductive deafness syndrome skos:exactMatch Orphanet:2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome semapv:UnspecifiedMatching MONDO:0009599 metaphyseal dysostosis-intellectual disability-conductive deafness syndrome skos:exactMatch UMLS:C1855175 semapv:UnspecifiedMatching MONDO:0009599 metaphyseal dysostosis-intellectual disability-conductive deafness syndrome skos:exactMatch mesh:C565396 semapv:UnspecifiedMatching MONDO:0009600 metaphyseal dysplasia, anetoderma, and optic atrophy skos:exactMatch MEDGEN:381576 semapv:UnspecifiedMatching MONDO:0009600 metaphyseal dysplasia, anetoderma, and optic atrophy skos:exactMatch OMIM:250450 metaphyseal dysplasia, anetoderma, and optic atrophy semapv:UnspecifiedMatching MONDO:0009600 metaphyseal dysplasia, anetoderma, and optic atrophy skos:exactMatch UMLS:C1855174 semapv:UnspecifiedMatching MONDO:0009600 metaphyseal dysplasia, anetoderma, and optic atrophy skos:exactMatch mesh:C565395 semapv:UnspecifiedMatching MONDO:0009601 metaphyseal dysplasia without hypotrichosis skos:exactMatch MEDGEN:320444 semapv:UnspecifiedMatching MONDO:0009601 metaphyseal dysplasia without hypotrichosis skos:exactMatch OMIM:250460 metaphyseal dysplasia without hypotrichosis semapv:UnspecifiedMatching MONDO:0009601 metaphyseal dysplasia without hypotrichosis skos:exactMatch UMLS:C1834821 semapv:UnspecifiedMatching MONDO:0009601 metaphyseal dysplasia without hypotrichosis skos:exactMatch mesh:C563574 semapv:UnspecifiedMatching MONDO:0009602 metaphyseal modeling abnormality, skin lesions, and spastic paraplegia skos:exactMatch MEDGEN:343282 semapv:UnspecifiedMatching MONDO:0009602 metaphyseal modeling abnormality, skin lesions, and spastic paraplegia skos:exactMatch OMIM:250500 metaphyseal modeling abnormality, skin lesions, and spastic paraplegia semapv:UnspecifiedMatching MONDO:0009602 metaphyseal modeling abnormality, skin lesions, and spastic paraplegia skos:exactMatch UMLS:C1855164 semapv:UnspecifiedMatching MONDO:0009602 metaphyseal modeling abnormality, skin lesions, and spastic paraplegia skos:exactMatch mesh:C535875 semapv:UnspecifiedMatching MONDO:0009603 3-hydroxyisobutyryl-CoA hydrolase deficiency skos:exactMatch DOID:0060949 3-hydroxyisobutryl-CoA hydrolase deficiency semapv:UnspecifiedMatching MONDO:0009603 3-hydroxyisobutyryl-CoA hydrolase deficiency skos:exactMatch MEDGEN:83349 semapv:UnspecifiedMatching MONDO:0009603 3-hydroxyisobutyryl-CoA hydrolase deficiency skos:exactMatch OMIM:250620 3-hydroxyisobutyryl-coa hydrolase deficiency semapv:UnspecifiedMatching MONDO:0009603 3-hydroxyisobutyryl-CoA hydrolase deficiency skos:exactMatch Orphanet:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency semapv:UnspecifiedMatching MONDO:0009603 3-hydroxyisobutyryl-CoA hydrolase deficiency skos:exactMatch SCTID:722488009 semapv:UnspecifiedMatching MONDO:0009603 3-hydroxyisobutyryl-CoA hydrolase deficiency skos:exactMatch UMLS:C0342738 semapv:UnspecifiedMatching MONDO:0009603 3-hydroxyisobutyryl-CoA hydrolase deficiency skos:exactMatch mesh:C562803 semapv:UnspecifiedMatching MONDO:0009604 methemoglobin reductase deficiency skos:exactMatch MEDGEN:501116 semapv:UnspecifiedMatching MONDO:0009604 methemoglobin reductase deficiency skos:exactMatch OMIM:250700 methemoglobin reductase deficiency semapv:UnspecifiedMatching MONDO:0009604 methemoglobin reductase deficiency skos:exactMatch SCTID:234397008 semapv:UnspecifiedMatching MONDO:0009604 methemoglobin reductase deficiency skos:exactMatch UMLS:C0472786 semapv:UnspecifiedMatching MONDO:0009604 methemoglobin reductase deficiency skos:exactMatch mesh:C563171 semapv:UnspecifiedMatching MONDO:0009605 methemoglobinemia type 4 skos:exactMatch DOID:0112316 methemoglobinemia and ambiguous genitalia semapv:UnspecifiedMatching MONDO:0009605 methemoglobinemia type 4 skos:exactMatch MEDGEN:925090 semapv:UnspecifiedMatching MONDO:0009605 methemoglobinemia type 4 skos:exactMatch OMIM:250790 methemoglobinemia and ambiguous genitalia semapv:UnspecifiedMatching MONDO:0009605 methemoglobinemia type 4 skos:exactMatch UMLS:C4285231 semapv:UnspecifiedMatching MONDO:0009605 methemoglobinemia type 4 skos:exactMatch mesh:C567102 semapv:UnspecifiedMatching MONDO:0009606 methemoglobinemia due to deficiency of methemoglobin reductase skos:exactMatch MEDGEN:75661 semapv:UnspecifiedMatching MONDO:0009606 methemoglobinemia due to deficiency of methemoglobin reductase skos:exactMatch OMIM:250800 methemoglobinemia due to deficiency of methemoglobin reductase semapv:UnspecifiedMatching MONDO:0009606 methemoglobinemia due to deficiency of methemoglobin reductase skos:exactMatch UMLS:C0268193 semapv:UnspecifiedMatching MONDO:0009607 methionine adenosyltransferase deficiency skos:exactMatch MEDGEN:75700 semapv:UnspecifiedMatching MONDO:0009607 methionine adenosyltransferase deficiency skos:exactMatch NCIT:C123435 Methionine Adenosyltransferase Deficiency semapv:UnspecifiedMatching MONDO:0009607 methionine adenosyltransferase deficiency skos:exactMatch OMIM:250850 methionine adenosyltransferase i/iii deficiency semapv:UnspecifiedMatching MONDO:0009607 methionine adenosyltransferase deficiency skos:exactMatch Orphanet:168598 Methionine adenosyltransferase I/III deficiency semapv:UnspecifiedMatching MONDO:0009607 methionine adenosyltransferase deficiency skos:exactMatch UMLS:C0268621 semapv:UnspecifiedMatching MONDO:0009608 methionine malabsorption syndrome skos:exactMatch MEDGEN:78693 semapv:UnspecifiedMatching MONDO:0009608 methionine malabsorption syndrome skos:exactMatch OMIM:250900 methionine malabsorption syndrome semapv:UnspecifiedMatching MONDO:0009608 methionine malabsorption syndrome skos:exactMatch SCTID:45812003 semapv:UnspecifiedMatching MONDO:0009608 methionine malabsorption syndrome skos:exactMatch UMLS:C0268622 semapv:UnspecifiedMatching MONDO:0009608 methionine malabsorption syndrome skos:exactMatch icd11.foundation:1061270147 Methionine malabsorption syndrome semapv:UnspecifiedMatching MONDO:0009608 methionine malabsorption syndrome skos:exactMatch mesh:C562682 semapv:UnspecifiedMatching MONDO:0009609 methylcobalamin deficiency type cblG skos:exactMatch DOID:0050733 methylmalonic aciduria and homocystinuria type cblG semapv:UnspecifiedMatching MONDO:0009609 methylcobalamin deficiency type cblG skos:exactMatch DOID:0112256 homocystinuria-megaloblastic anemia cblG type semapv:UnspecifiedMatching MONDO:0009609 methylcobalamin deficiency type cblG skos:exactMatch MEDGEN:344426 semapv:UnspecifiedMatching MONDO:0009609 methylcobalamin deficiency type cblG skos:exactMatch OMIM:250940 homocystinuria-megaloblastic anemia, cblg type semapv:UnspecifiedMatching MONDO:0009609 methylcobalamin deficiency type cblG skos:exactMatch Orphanet:2170 Methylcobalamin deficiency type cblG semapv:UnspecifiedMatching MONDO:0009609 methylcobalamin deficiency type cblG skos:exactMatch SCTID:721187005 semapv:UnspecifiedMatching MONDO:0009609 methylcobalamin deficiency type cblG skos:exactMatch UMLS:C1855128 semapv:UnspecifiedMatching MONDO:0009610 3-methylglutaconic aciduria type 1 skos:exactMatch DOID:0110002 3-methylglutaconic aciduria type 1 semapv:UnspecifiedMatching MONDO:0009610 3-methylglutaconic aciduria type 1 skos:exactMatch MEDGEN:90994 semapv:UnspecifiedMatching MONDO:0009610 3-methylglutaconic aciduria type 1 skos:exactMatch NCIT:C98683 3-Methylglutaconic Aciduria Type 1 semapv:UnspecifiedMatching MONDO:0009610 3-methylglutaconic aciduria type 1 skos:exactMatch OMIM:250950 3-methylglutaconic aciduria, type 1 semapv:UnspecifiedMatching MONDO:0009610 3-methylglutaconic aciduria type 1 skos:exactMatch Orphanet:67046 3-methylglutaconic aciduria type 1 semapv:UnspecifiedMatching MONDO:0009610 3-methylglutaconic aciduria type 1 skos:exactMatch SCTID:237951008 semapv:UnspecifiedMatching MONDO:0009610 3-methylglutaconic aciduria type 1 skos:exactMatch UMLS:C0342727 semapv:UnspecifiedMatching MONDO:0009610 3-methylglutaconic aciduria type 1 skos:exactMatch icd11.foundation:899935975 3-methylglutaconic aciduria type 1 semapv:UnspecifiedMatching MONDO:0009610 3-methylglutaconic aciduria type 1 skos:exactMatch mesh:C562801 semapv:UnspecifiedMatching MONDO:0009611 3-methylglutaconic aciduria type 4 skos:exactMatch DOID:0110006 3-methylglutaconic aciduria type 4 semapv:UnspecifiedMatching MONDO:0009611 3-methylglutaconic aciduria type 4 skos:exactMatch MEDGEN:344425 semapv:UnspecifiedMatching MONDO:0009611 3-methylglutaconic aciduria type 4 skos:exactMatch OMIM:250951 3-methylglutaconic aciduria, type 4 semapv:UnspecifiedMatching MONDO:0009611 3-methylglutaconic aciduria type 4 skos:exactMatch Orphanet:67048 3-methylglutaconic aciduria type 4 semapv:UnspecifiedMatching MONDO:0009611 3-methylglutaconic aciduria type 4 skos:exactMatch SCTID:297233004 semapv:UnspecifiedMatching MONDO:0009611 3-methylglutaconic aciduria type 4 skos:exactMatch UMLS:C1855126 semapv:UnspecifiedMatching MONDO:0009611 3-methylglutaconic aciduria type 4 skos:exactMatch icd11.foundation:185382411 3-methylglutaconic aciduria type 4 semapv:UnspecifiedMatching MONDO:0009611 3-methylglutaconic aciduria type 4 skos:exactMatch mesh:C565393 semapv:UnspecifiedMatching MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency skos:exactMatch DOID:0060740 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency semapv:UnspecifiedMatching MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency skos:exactMatch MEDGEN:344424 semapv:UnspecifiedMatching MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency skos:exactMatch NCIT:C148366 Methylmalonic Aciduria Due to Methylmalonyl-CoA Mutase Deficiency semapv:UnspecifiedMatching MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency skos:exactMatch OMIM:251000 methylmalonic aciduria due to methylmalonyl-coa mutase deficiency semapv:UnspecifiedMatching MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency skos:exactMatch Orphanet:27 Vitamin B12-unresponsive methylmalonic acidemia semapv:UnspecifiedMatching MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency skos:exactMatch UMLS:C1855114 semapv:UnspecifiedMatching MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency skos:exactMatch mesh:C565390 semapv:UnspecifiedMatching MONDO:0009613 methylmalonic aciduria, cblA type skos:exactMatch DOID:0060742 methylmalonic acidemia cblA type semapv:UnspecifiedMatching MONDO:0009613 methylmalonic aciduria, cblA type skos:exactMatch MEDGEN:344422 semapv:UnspecifiedMatching MONDO:0009613 methylmalonic aciduria, cblA type skos:exactMatch NCIT:C142171 Methylmalonic Aciduria, cblA Type semapv:UnspecifiedMatching MONDO:0009613 methylmalonic aciduria, cblA type skos:exactMatch OMIM:251100 methylmalonic aciduria, cbla type semapv:UnspecifiedMatching MONDO:0009613 methylmalonic aciduria, cblA type skos:exactMatch Orphanet:79310 Vitamin B12-responsive methylmalonic acidemia type cblA semapv:UnspecifiedMatching MONDO:0009613 methylmalonic aciduria, cblA type skos:exactMatch SCTID:73843004 semapv:UnspecifiedMatching MONDO:0009613 methylmalonic aciduria, cblA type skos:exactMatch SCTID:82245003 semapv:UnspecifiedMatching MONDO:0009613 methylmalonic aciduria, cblA type skos:exactMatch UMLS:C1855109 semapv:UnspecifiedMatching MONDO:0009614 methylmalonic aciduria, cblB type skos:exactMatch DOID:0060743 methylmalonic acidemia cblB type semapv:UnspecifiedMatching MONDO:0009614 methylmalonic aciduria, cblB type skos:exactMatch MEDGEN:344420 semapv:UnspecifiedMatching MONDO:0009614 methylmalonic aciduria, cblB type skos:exactMatch NCIT:C142172 Methylmalonic Aciduria, cblB Type semapv:UnspecifiedMatching MONDO:0009614 methylmalonic aciduria, cblB type skos:exactMatch OMIM:251110 methylmalonic aciduria, cblb type semapv:UnspecifiedMatching MONDO:0009614 methylmalonic aciduria, cblB type skos:exactMatch Orphanet:79311 Vitamin B12-responsive methylmalonic acidemia type cblB semapv:UnspecifiedMatching MONDO:0009614 methylmalonic aciduria, cblB type skos:exactMatch UMLS:C1855102 semapv:UnspecifiedMatching MONDO:0009615 methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency skos:exactMatch MEDGEN:344419 semapv:UnspecifiedMatching MONDO:0009615 methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency skos:exactMatch OMIM:251120 methylmalonyl-coa epimerase deficiency semapv:UnspecifiedMatching MONDO:0009615 methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency skos:exactMatch Orphanet:308425 Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency semapv:UnspecifiedMatching MONDO:0009615 methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency skos:exactMatch SCTID:765137006 semapv:UnspecifiedMatching MONDO:0009615 methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency skos:exactMatch UMLS:C1855100 semapv:UnspecifiedMatching MONDO:0009615 methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency skos:exactMatch mesh:C565386 semapv:UnspecifiedMatching MONDO:0009616 microcephalic primordial dwarfism, Toriello type skos:exactMatch MEDGEN:381556 semapv:UnspecifiedMatching MONDO:0009616 microcephalic primordial dwarfism, Toriello type skos:exactMatch OMIM:251190 microcephalic primordial dwarfism, toriello type semapv:UnspecifiedMatching MONDO:0009616 microcephalic primordial dwarfism, Toriello type skos:exactMatch Orphanet:2643 Microcephalic primordial dwarfism, Toriello type semapv:UnspecifiedMatching MONDO:0009616 microcephalic primordial dwarfism, Toriello type skos:exactMatch SCTID:715482004 semapv:UnspecifiedMatching MONDO:0009616 microcephalic primordial dwarfism, Toriello type skos:exactMatch UMLS:C1855089 semapv:UnspecifiedMatching MONDO:0009616 microcephalic primordial dwarfism, Toriello type skos:exactMatch icd11.foundation:279033035 Microcephalic primordial dwarfism, Toriello type semapv:UnspecifiedMatching MONDO:0009616 microcephalic primordial dwarfism, Toriello type skos:exactMatch mesh:C537321 semapv:UnspecifiedMatching MONDO:0009617 microcephaly 1, primary, autosomal recessive skos:exactMatch DOID:0070285 primary autosomal recessive microcephaly 1 semapv:UnspecifiedMatching MONDO:0009617 microcephaly 1, primary, autosomal recessive skos:exactMatch MEDGEN:344415 semapv:UnspecifiedMatching MONDO:0009617 microcephaly 1, primary, autosomal recessive skos:exactMatch OMIM:251200 microcephaly 1, primary, autosomal recessive semapv:UnspecifiedMatching MONDO:0009617 microcephaly 1, primary, autosomal recessive skos:exactMatch UMLS:C1855081 semapv:UnspecifiedMatching MONDO:0009617 microcephaly 1, primary, autosomal recessive skos:exactMatch mesh:C565384 semapv:UnspecifiedMatching MONDO:0009618 microcephaly-cardiomyopathy syndrome skos:exactMatch MEDGEN:381554 semapv:UnspecifiedMatching MONDO:0009618 microcephaly-cardiomyopathy syndrome skos:exactMatch OMIM:251220 microcephaly-cardiomyopathy semapv:UnspecifiedMatching MONDO:0009618 microcephaly-cardiomyopathy syndrome skos:exactMatch Orphanet:2515 Microcephaly-cardiomyopathy syndrome semapv:UnspecifiedMatching MONDO:0009618 microcephaly-cardiomyopathy syndrome skos:exactMatch SCTID:719380003 semapv:UnspecifiedMatching MONDO:0009618 microcephaly-cardiomyopathy syndrome skos:exactMatch UMLS:C1855080 semapv:UnspecifiedMatching MONDO:0009618 microcephaly-cardiomyopathy syndrome skos:exactMatch mesh:C536711 semapv:UnspecifiedMatching MONDO:0009619 microcephaly-micromelia syndrome skos:exactMatch DOID:0081432 microcephaly-micromelia syndrome semapv:UnspecifiedMatching MONDO:0009619 microcephaly-micromelia syndrome skos:exactMatch MEDGEN:381553 semapv:UnspecifiedMatching MONDO:0009619 microcephaly-micromelia syndrome skos:exactMatch OMIM:251230 microcephaly-micromelia syndrome semapv:UnspecifiedMatching MONDO:0009619 microcephaly-micromelia syndrome skos:exactMatch Orphanet:572768 Microcephaly-micromelia syndrome semapv:UnspecifiedMatching MONDO:0009619 microcephaly-micromelia syndrome skos:exactMatch UMLS:C1855079 semapv:UnspecifiedMatching MONDO:0009619 microcephaly-micromelia syndrome skos:exactMatch mesh:C565382 semapv:UnspecifiedMatching MONDO:0009620 Say-Barber-Miller syndrome skos:exactMatch MEDGEN:343258 semapv:UnspecifiedMatching MONDO:0009620 Say-Barber-Miller syndrome skos:exactMatch OMIM:251240 microcephaly with chemotactic defect and transient hypogammaglobulinemia semapv:UnspecifiedMatching MONDO:0009620 Say-Barber-Miller syndrome skos:exactMatch Orphanet:3132 Say-Barber-Miller syndrome semapv:UnspecifiedMatching MONDO:0009620 Say-Barber-Miller syndrome skos:exactMatch SCTID:721903007 semapv:UnspecifiedMatching MONDO:0009620 Say-Barber-Miller syndrome skos:exactMatch UMLS:C1855078 semapv:UnspecifiedMatching MONDO:0009620 Say-Barber-Miller syndrome skos:exactMatch mesh:C536618 semapv:UnspecifiedMatching MONDO:0009621 microcephaly-cervical spine fusion anomalies syndrome skos:exactMatch MEDGEN:208663 semapv:UnspecifiedMatching MONDO:0009621 microcephaly-cervical spine fusion anomalies syndrome skos:exactMatch OMIM:251250 microcephaly with cervical spine fusion anomalies semapv:UnspecifiedMatching MONDO:0009621 microcephaly-cervical spine fusion anomalies syndrome skos:exactMatch Orphanet:2522 Microcephaly-cervical spine fusion anomalies syndrome semapv:UnspecifiedMatching MONDO:0009621 microcephaly-cervical spine fusion anomalies syndrome skos:exactMatch SCTID:715462003 semapv:UnspecifiedMatching MONDO:0009621 microcephaly-cervical spine fusion anomalies syndrome skos:exactMatch UMLS:C0796066 semapv:UnspecifiedMatching MONDO:0009621 microcephaly-cervical spine fusion anomalies syndrome skos:exactMatch mesh:C537325 semapv:UnspecifiedMatching MONDO:0009622 Jawad syndrome skos:exactMatch MEDGEN:810673 semapv:UnspecifiedMatching MONDO:0009622 Jawad syndrome skos:exactMatch OMIM:251255 jawad syndrome semapv:UnspecifiedMatching MONDO:0009622 Jawad syndrome skos:exactMatch Orphanet:313795 Jawad syndrome semapv:UnspecifiedMatching MONDO:0009622 Jawad syndrome skos:exactMatch UMLS:C0796063 semapv:UnspecifiedMatching MONDO:0009623 Nijmegen breakage syndrome skos:exactMatch DOID:7400 Nijmegen breakage syndrome semapv:UnspecifiedMatching MONDO:0009623 Nijmegen breakage syndrome skos:exactMatch MEDGEN:140771 semapv:UnspecifiedMatching MONDO:0009623 Nijmegen breakage syndrome skos:exactMatch NCIT:C4692 Nijmegen Breakage Syndrome semapv:UnspecifiedMatching MONDO:0009623 Nijmegen breakage syndrome skos:exactMatch OMIM:251260 nijmegen breakage syndrome semapv:UnspecifiedMatching MONDO:0009623 Nijmegen breakage syndrome skos:exactMatch Orphanet:647 Nijmegen breakage syndrome semapv:UnspecifiedMatching MONDO:0009623 Nijmegen breakage syndrome skos:exactMatch SCTID:234638009 semapv:UnspecifiedMatching MONDO:0009623 Nijmegen breakage syndrome skos:exactMatch UMLS:C0398791 semapv:UnspecifiedMatching MONDO:0009623 Nijmegen breakage syndrome skos:exactMatch icd11.foundation:1925662580 Nijmegen breakage syndrome semapv:UnspecifiedMatching MONDO:0009623 Nijmegen breakage syndrome skos:exactMatch mesh:D049932 semapv:UnspecifiedMatching MONDO:0009624 microcephaly and chorioretinopathy 1 skos:exactMatch DOID:0080105 microcephaly and chorioretinopathy 1 semapv:UnspecifiedMatching MONDO:0009624 microcephaly and chorioretinopathy 1 skos:exactMatch MEDGEN:480111 semapv:UnspecifiedMatching MONDO:0009624 microcephaly and chorioretinopathy 1 skos:exactMatch NCIT:C129306 Microcephaly and Chorioretinopathy, Autosomal Recessive, Type 1 semapv:UnspecifiedMatching MONDO:0009624 microcephaly and chorioretinopathy 1 skos:exactMatch OMIM:251270 microcephaly and chorioretinopathy, autosomal recessive, 1 semapv:UnspecifiedMatching MONDO:0009624 microcephaly and chorioretinopathy 1 skos:exactMatch Orphanet:2518 Autosomal recessive chorioretinopathy-microcephaly syndrome semapv:UnspecifiedMatching MONDO:0009624 microcephaly and chorioretinopathy 1 skos:exactMatch UMLS:C3278481 semapv:UnspecifiedMatching MONDO:0009625 diencephalic-mesencephalic junction dysplasia syndrome 1 skos:exactMatch MEDGEN:1615973 semapv:UnspecifiedMatching MONDO:0009625 diencephalic-mesencephalic junction dysplasia syndrome 1 skos:exactMatch OMIM:251280 diencephalic-mesencephalic junction dysplasia syndrome 1 semapv:UnspecifiedMatching MONDO:0009625 diencephalic-mesencephalic junction dysplasia syndrome 1 skos:exactMatch UMLS:C4538630 semapv:UnspecifiedMatching MONDO:0009625 diencephalic-mesencephalic junction dysplasia syndrome 1 skos:exactMatch mesh:C537546 semapv:UnspecifiedMatching MONDO:0009626 pseudo-TORCH syndrome skos:exactMatch DOID:0050656 pseudo-TORCH syndrome 1 semapv:UnspecifiedMatching MONDO:0009626 pseudo-TORCH syndrome skos:exactMatch MEDGEN:483678 semapv:UnspecifiedMatching MONDO:0009626 pseudo-TORCH syndrome skos:exactMatch OMIMPS:251290 Pseudo-TORCH syndrome semapv:UnspecifiedMatching MONDO:0009626 pseudo-TORCH syndrome skos:exactMatch Orphanet:1229 Congenital intrauterine infection-like syndrome semapv:UnspecifiedMatching MONDO:0009626 pseudo-TORCH syndrome skos:exactMatch SCTID:722390006 semapv:UnspecifiedMatching MONDO:0009626 pseudo-TORCH syndrome skos:exactMatch UMLS:C3489725 semapv:UnspecifiedMatching MONDO:0009627 Galloway-Mowat syndrome skos:exactMatch DOID:0080694 Galloway-Mowat syndrome semapv:UnspecifiedMatching MONDO:0009627 Galloway-Mowat syndrome skos:exactMatch MEDGEN:167086 semapv:UnspecifiedMatching MONDO:0009627 Galloway-Mowat syndrome skos:exactMatch NCIT:C132195 Galloway-Mowat Syndrome semapv:UnspecifiedMatching MONDO:0009627 Galloway-Mowat syndrome skos:exactMatch OMIMPS:251300 Galloway-Mowat syndrome semapv:UnspecifiedMatching MONDO:0009627 Galloway-Mowat syndrome skos:exactMatch Orphanet:2065 Galloway-Mowat syndrome semapv:UnspecifiedMatching MONDO:0009627 Galloway-Mowat syndrome skos:exactMatch SCTID:721297008 semapv:UnspecifiedMatching MONDO:0009627 Galloway-Mowat syndrome skos:exactMatch UMLS:C0795949 semapv:UnspecifiedMatching MONDO:0009627 Galloway-Mowat syndrome skos:exactMatch mesh:C537548 semapv:UnspecifiedMatching MONDO:0009628 obsolete microcolon skos:exactMatch NCIT:C98987 Microcolon semapv:UnspecifiedMatching MONDO:0009628 obsolete microcolon skos:exactMatch OMIM:251400 microcolon semapv:UnspecifiedMatching MONDO:0009628 obsolete microcolon skos:exactMatch SCTID:18389004 semapv:UnspecifiedMatching MONDO:0009628 obsolete microcolon skos:exactMatch mesh:C562563 semapv:UnspecifiedMatching MONDO:0009629 Desbuquois dysplasia 1 skos:exactMatch MEDGEN:860583 semapv:UnspecifiedMatching MONDO:0009629 Desbuquois dysplasia 1 skos:exactMatch OMIM:251450 desbuquois dysplasia 1 semapv:UnspecifiedMatching MONDO:0009629 Desbuquois dysplasia 1 skos:exactMatch UMLS:C4012146 semapv:UnspecifiedMatching MONDO:0009630 microphthalmia, isolated, with coloboma 4 skos:exactMatch MEDGEN:344410 semapv:UnspecifiedMatching MONDO:0009630 microphthalmia, isolated, with coloboma 4 skos:exactMatch OMIM:251505 microphthalmia/coloboma 4 semapv:UnspecifiedMatching MONDO:0009630 microphthalmia, isolated, with coloboma 4 skos:exactMatch SCTID:715771008 semapv:UnspecifiedMatching MONDO:0009630 microphthalmia, isolated, with coloboma 4 skos:exactMatch UMLS:C1855053 semapv:UnspecifiedMatching MONDO:0009630 microphthalmia, isolated, with coloboma 4 skos:exactMatch mesh:C565378 semapv:UnspecifiedMatching MONDO:0009631 isolated microphthalmia 1 skos:exactMatch DOID:0060840 isolated microphthalmia 1 semapv:UnspecifiedMatching MONDO:0009631 isolated microphthalmia 1 skos:exactMatch MEDGEN:381546 semapv:UnspecifiedMatching MONDO:0009631 isolated microphthalmia 1 skos:exactMatch OMIM:251600 microphthalmia, isolated 1 semapv:UnspecifiedMatching MONDO:0009631 isolated microphthalmia 1 skos:exactMatch UMLS:C1855052 semapv:UnspecifiedMatching MONDO:0009631 isolated microphthalmia 1 skos:exactMatch mesh:C565377 semapv:UnspecifiedMatching MONDO:0009632 microphthalmia with hyperopia, retinal degeneration, macrophakia, and dental anomalies skos:exactMatch MEDGEN:368490 semapv:UnspecifiedMatching MONDO:0009632 microphthalmia with hyperopia, retinal degeneration, macrophakia, and dental anomalies skos:exactMatch OMIM:251700 microphthalmia with hyperopia, retinal degeneration, macrophakia, and dental anomalies semapv:UnspecifiedMatching MONDO:0009632 microphthalmia with hyperopia, retinal degeneration, macrophakia, and dental anomalies skos:exactMatch UMLS:C1968637 semapv:UnspecifiedMatching MONDO:0009632 microphthalmia with hyperopia, retinal degeneration, macrophakia, and dental anomalies skos:exactMatch mesh:C566884 semapv:UnspecifiedMatching MONDO:0009633 microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma skos:exactMatch MEDGEN:761238 semapv:UnspecifiedMatching MONDO:0009633 microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma skos:exactMatch OMIM:251750 microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma semapv:UnspecifiedMatching MONDO:0009633 microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma skos:exactMatch UMLS:C3538951 semapv:UnspecifiedMatching MONDO:0009634 microtia with meatal atresia and conductive deafness skos:exactMatch MEDGEN:419093 semapv:UnspecifiedMatching MONDO:0009634 microtia with meatal atresia and conductive deafness skos:exactMatch OMIM:251800 microtia with meatal atresia and conductive deafness semapv:UnspecifiedMatching MONDO:0009634 microtia with meatal atresia and conductive deafness skos:exactMatch UMLS:C2931502 semapv:UnspecifiedMatching MONDO:0009634 microtia with meatal atresia and conductive deafness skos:exactMatch mesh:C537469 semapv:UnspecifiedMatching MONDO:0009635 microvillus inclusion disease skos:exactMatch DOID:0060775 microvillus inclusion disease semapv:UnspecifiedMatching MONDO:0009635 microvillus inclusion disease skos:exactMatch MEDGEN:137954 semapv:UnspecifiedMatching MONDO:0009635 microvillus inclusion disease skos:exactMatch OMIM:251850 diarrhea 2, with microvillus atrophy, with or without cholestasis semapv:UnspecifiedMatching MONDO:0009635 microvillus inclusion disease skos:exactMatch Orphanet:2290 Microvillus inclusion disease semapv:UnspecifiedMatching MONDO:0009635 microvillus inclusion disease skos:exactMatch SCTID:235729009 semapv:UnspecifiedMatching MONDO:0009635 microvillus inclusion disease skos:exactMatch UMLS:C0341306 semapv:UnspecifiedMatching MONDO:0009635 microvillus inclusion disease skos:exactMatch icd11.foundation:2137578537 Microvillous inclusion disease semapv:UnspecifiedMatching MONDO:0009636 mitochondrial DNA depletion syndrome 3 (hepatocerebral type) skos:exactMatch DOID:0080121 mitochondrial DNA depletion syndrome 3 semapv:UnspecifiedMatching MONDO:0009636 mitochondrial DNA depletion syndrome 3 (hepatocerebral type) skos:exactMatch OMIM:251880 mitochondrial DNA depletion syndrome 3 (hepatocerebral type) semapv:UnspecifiedMatching MONDO:0009636 mitochondrial DNA depletion syndrome 3 (hepatocerebral type) skos:exactMatch Orphanet:279934 Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency semapv:UnspecifiedMatching MONDO:0009637 inborn mitochondrial myopathy skos:exactMatch DOID:699 mitochondrial myopathy semapv:UnspecifiedMatching MONDO:0009637 inborn mitochondrial myopathy skos:exactMatch MEDGEN:56484 semapv:UnspecifiedMatching MONDO:0009637 inborn mitochondrial myopathy skos:exactMatch NCIT:C101328 Mitochondrial Myopathy semapv:UnspecifiedMatching MONDO:0009637 inborn mitochondrial myopathy skos:exactMatch Orphanet:206966 Mitochondrial myopathy semapv:UnspecifiedMatching MONDO:0009637 inborn mitochondrial myopathy skos:exactMatch UMLS:C0162670 semapv:UnspecifiedMatching MONDO:0009637 inborn mitochondrial myopathy skos:exactMatch icd11.foundation:601991549 Mitochondrial myopathies semapv:UnspecifiedMatching MONDO:0009637 inborn mitochondrial myopathy skos:exactMatch mesh:D017240 semapv:UnspecifiedMatching MONDO:0009638 mitochondrial myopathy with a defect in mitochondrial-protein transport skos:exactMatch MEDGEN:381541 semapv:UnspecifiedMatching MONDO:0009638 mitochondrial myopathy with a defect in mitochondrial-protein transport skos:exactMatch OMIM:251945 mitochondrial myopathy with a defect 1n mitochondrial-protein transport semapv:UnspecifiedMatching MONDO:0009638 mitochondrial myopathy with a defect in mitochondrial-protein transport skos:exactMatch UMLS:C1855034 semapv:UnspecifiedMatching MONDO:0009638 mitochondrial myopathy with a defect in mitochondrial-protein transport skos:exactMatch mesh:C565376 semapv:UnspecifiedMatching MONDO:0009642 orofaciodigital syndrome type II skos:exactMatch DOID:0060959 orofaciodigital syndrome II semapv:UnspecifiedMatching MONDO:0009642 orofaciodigital syndrome type II skos:exactMatch MEDGEN:10077 semapv:UnspecifiedMatching MONDO:0009642 orofaciodigital syndrome type II skos:exactMatch OMIM:252100 orofaciodigital syndrome 2 semapv:UnspecifiedMatching MONDO:0009642 orofaciodigital syndrome type II skos:exactMatch Orphanet:2751 Orofaciodigital syndrome type 2 semapv:UnspecifiedMatching MONDO:0009642 orofaciodigital syndrome type II skos:exactMatch SCTID:1779005 semapv:UnspecifiedMatching MONDO:0009642 orofaciodigital syndrome type II skos:exactMatch UMLS:C0026363 semapv:UnspecifiedMatching MONDO:0009643 sulfite oxidase deficiency due to molybdenum cofactor deficiency type A skos:exactMatch DOID:0111164 molybdenum cofactor deficiency type A semapv:UnspecifiedMatching MONDO:0009643 sulfite oxidase deficiency due to molybdenum cofactor deficiency type A skos:exactMatch MEDGEN:381530 semapv:UnspecifiedMatching MONDO:0009643 sulfite oxidase deficiency due to molybdenum cofactor deficiency type A skos:exactMatch OMIM:252150 molybdenum cofactor deficiency, type a semapv:UnspecifiedMatching MONDO:0009643 sulfite oxidase deficiency due to molybdenum cofactor deficiency type A skos:exactMatch Orphanet:308386 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A semapv:UnspecifiedMatching MONDO:0009643 sulfite oxidase deficiency due to molybdenum cofactor deficiency type A skos:exactMatch UMLS:C1854988 semapv:UnspecifiedMatching MONDO:0009643 sulfite oxidase deficiency due to molybdenum cofactor deficiency type A skos:exactMatch mesh:C565372 semapv:UnspecifiedMatching MONDO:0009644 sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1 skos:exactMatch DOID:0111163 molybdenum cofactor deficiency type B semapv:UnspecifiedMatching MONDO:0009644 sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1 skos:exactMatch MEDGEN:340760 semapv:UnspecifiedMatching MONDO:0009644 sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1 skos:exactMatch OMIM:252160 molybdenum cofactor deficiency, type b1 semapv:UnspecifiedMatching MONDO:0009644 sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1 skos:exactMatch Orphanet:308393 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B semapv:UnspecifiedMatching MONDO:0009644 sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1 skos:exactMatch UMLS:C1854989 semapv:UnspecifiedMatching MONDO:0009644 sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1 skos:exactMatch mesh:C565373 semapv:UnspecifiedMatching MONDO:0009645 chronic mucocutaneous candidiasis due to monocyte chemotactic disorder skos:exactMatch MEDGEN:343238 semapv:UnspecifiedMatching MONDO:0009645 chronic mucocutaneous candidiasis due to monocyte chemotactic disorder skos:exactMatch OMIM:252250 monocyte chemotactic disorder semapv:UnspecifiedMatching MONDO:0009645 chronic mucocutaneous candidiasis due to monocyte chemotactic disorder skos:exactMatch UMLS:C1854982 semapv:UnspecifiedMatching MONDO:0009645 chronic mucocutaneous candidiasis due to monocyte chemotactic disorder skos:exactMatch mesh:C565371 semapv:UnspecifiedMatching MONDO:0009646 monosomy 7 myelodysplasia and leukemia syndrome 1 skos:exactMatch MEDGEN:381529 semapv:UnspecifiedMatching MONDO:0009646 monosomy 7 myelodysplasia and leukemia syndrome 1 skos:exactMatch NCIT:C176908 Monosomy 7 Myelodysplasia and Leukemia Syndrome 1 semapv:UnspecifiedMatching MONDO:0009646 monosomy 7 myelodysplasia and leukemia syndrome 1 skos:exactMatch OMIM:252270 monosomy 7 myelodysplasia and leukemia syndrome 1 semapv:UnspecifiedMatching MONDO:0009646 monosomy 7 myelodysplasia and leukemia syndrome 1 skos:exactMatch UMLS:C1854978 semapv:UnspecifiedMatching MONDO:0009646 monosomy 7 myelodysplasia and leukemia syndrome 1 skos:exactMatch mesh:C565370 semapv:UnspecifiedMatching MONDO:0009647 Morquio syndrome C skos:exactMatch MEDGEN:443986 semapv:UnspecifiedMatching MONDO:0009647 Morquio syndrome C skos:exactMatch OMIM:252300 morquio syndrome c semapv:UnspecifiedMatching MONDO:0009647 Morquio syndrome C skos:exactMatch UMLS:C2931140 semapv:UnspecifiedMatching MONDO:0009647 Morquio syndrome C skos:exactMatch mesh:C536247 semapv:UnspecifiedMatching MONDO:0009648 peripheral motor neuropathy-dysautonomia syndrome skos:exactMatch MEDGEN:381527 semapv:UnspecifiedMatching MONDO:0009648 peripheral motor neuropathy-dysautonomia syndrome skos:exactMatch OMIM:252320 motor neuropathy, peripheral, with dysautonomia semapv:UnspecifiedMatching MONDO:0009648 peripheral motor neuropathy-dysautonomia syndrome skos:exactMatch Orphanet:2400 Peripheral motor neuropathy-dysautonomia syndrome semapv:UnspecifiedMatching MONDO:0009648 peripheral motor neuropathy-dysautonomia syndrome skos:exactMatch UMLS:C1854961 semapv:UnspecifiedMatching MONDO:0009648 peripheral motor neuropathy-dysautonomia syndrome skos:exactMatch icd11.foundation:1468523039 Peripheral motor neuropathy-dysautonomia syndrome semapv:UnspecifiedMatching MONDO:0009648 peripheral motor neuropathy-dysautonomia syndrome skos:exactMatch mesh:C536988 semapv:UnspecifiedMatching MONDO:0009649 moyamoya disease 1 skos:exactMatch MEDGEN:419790 semapv:UnspecifiedMatching MONDO:0009649 moyamoya disease 1 skos:exactMatch OMIM:252350 moyamoya disease 1 semapv:UnspecifiedMatching MONDO:0009649 moyamoya disease 1 skos:exactMatch SCTID:69116000 semapv:UnspecifiedMatching MONDO:0009649 moyamoya disease 1 skos:exactMatch UMLS:C2931384 semapv:UnspecifiedMatching MONDO:0009649 moyamoya disease 1 skos:exactMatch mesh:C536991 semapv:UnspecifiedMatching MONDO:0009650 mucolipidosis type II skos:exactMatch DOID:0080070 mucolipidosis II alpha/beta semapv:UnspecifiedMatching MONDO:0009650 mucolipidosis type II skos:exactMatch MEDGEN:435914 semapv:UnspecifiedMatching MONDO:0009650 mucolipidosis type II skos:exactMatch NCIT:C61270 I-Cell Disease semapv:UnspecifiedMatching MONDO:0009650 mucolipidosis type II skos:exactMatch OMIM:252500 mucolipidosis 2 alpha/beta semapv:UnspecifiedMatching MONDO:0009650 mucolipidosis type II skos:exactMatch Orphanet:576 Mucolipidosis type II semapv:UnspecifiedMatching MONDO:0009650 mucolipidosis type II skos:exactMatch SCTID:70199000 semapv:UnspecifiedMatching MONDO:0009650 mucolipidosis type II skos:exactMatch UMLS:C2673377 semapv:UnspecifiedMatching MONDO:0009650 mucolipidosis type II skos:exactMatch mesh:C538602 semapv:UnspecifiedMatching MONDO:0009652 GNPTG-mucolipidosis skos:exactMatch DOID:0080678 mucolipidosis III gamma semapv:UnspecifiedMatching MONDO:0009652 GNPTG-mucolipidosis skos:exactMatch MEDGEN:340743 semapv:UnspecifiedMatching MONDO:0009652 GNPTG-mucolipidosis skos:exactMatch NCIT:C129978 Mucolipidosis Type III Gamma semapv:UnspecifiedMatching MONDO:0009652 GNPTG-mucolipidosis skos:exactMatch OMIM:252605 mucolipidosis 3 gamma semapv:UnspecifiedMatching MONDO:0009652 GNPTG-mucolipidosis skos:exactMatch Orphanet:423470 Mucolipidosis type III gamma semapv:UnspecifiedMatching MONDO:0009652 GNPTG-mucolipidosis skos:exactMatch UMLS:C1854896 semapv:UnspecifiedMatching MONDO:0009652 GNPTG-mucolipidosis skos:exactMatch mesh:C565367 semapv:UnspecifiedMatching MONDO:0009653 mucolipidosis type IV skos:exactMatch DOID:0080490 mucolipidosis type IV semapv:UnspecifiedMatching MONDO:0009653 mucolipidosis type IV skos:exactMatch ICD10CM:E75.11 Mucolipidosis IV semapv:UnspecifiedMatching MONDO:0009653 mucolipidosis type IV skos:exactMatch MEDGEN:68663 semapv:UnspecifiedMatching MONDO:0009653 mucolipidosis type IV skos:exactMatch NCIT:C84896 Mucolipidosis Type IV semapv:UnspecifiedMatching MONDO:0009653 mucolipidosis type IV skos:exactMatch OMIM:252650 mucolipidosis 4 semapv:UnspecifiedMatching MONDO:0009653 mucolipidosis type IV skos:exactMatch Orphanet:578 Mucolipidosis type IV semapv:UnspecifiedMatching MONDO:0009653 mucolipidosis type IV skos:exactMatch SCTID:111384001 semapv:UnspecifiedMatching MONDO:0009653 mucolipidosis type IV skos:exactMatch SCTID:725296006 semapv:UnspecifiedMatching MONDO:0009653 mucolipidosis type IV skos:exactMatch UMLS:C0238286 semapv:UnspecifiedMatching MONDO:0009654 obsolete mucopolysaccharidoses, unclassified types skos:exactMatch OMIM:252700 semapv:UnspecifiedMatching MONDO:0009654 obsolete mucopolysaccharidoses, unclassified types skos:exactMatch mesh:C562442 semapv:UnspecifiedMatching MONDO:0009655 mucopolysaccharidosis type 3A skos:exactMatch DOID:0111395 mucopolysaccharidosis type IIIA semapv:UnspecifiedMatching MONDO:0009655 mucopolysaccharidosis type 3A skos:exactMatch MEDGEN:39264 semapv:UnspecifiedMatching MONDO:0009655 mucopolysaccharidosis type 3A skos:exactMatch NCIT:C84897 Mucopolysaccharidosis Type IIIA semapv:UnspecifiedMatching MONDO:0009655 mucopolysaccharidosis type 3A skos:exactMatch OMIM:252900 mucopolysaccharidosis, type 3a semapv:UnspecifiedMatching MONDO:0009655 mucopolysaccharidosis type 3A skos:exactMatch Orphanet:79269 Sanfilippo syndrome type A semapv:UnspecifiedMatching MONDO:0009655 mucopolysaccharidosis type 3A skos:exactMatch SCTID:41572006 semapv:UnspecifiedMatching MONDO:0009655 mucopolysaccharidosis type 3A skos:exactMatch UMLS:C0086647 semapv:UnspecifiedMatching MONDO:0009655 mucopolysaccharidosis type 3A skos:exactMatch icd11.foundation:182200345 Mucopolysaccharidosis type 3A semapv:UnspecifiedMatching MONDO:0009656 mucopolysaccharidosis type 3B skos:exactMatch DOID:0111394 mucopolysaccharidosis type IIIB semapv:UnspecifiedMatching MONDO:0009656 mucopolysaccharidosis type 3B skos:exactMatch MEDGEN:88601 semapv:UnspecifiedMatching MONDO:0009656 mucopolysaccharidosis type 3B skos:exactMatch NCIT:C84898 Mucopolysaccharidosis Type IIIB semapv:UnspecifiedMatching MONDO:0009656 mucopolysaccharidosis type 3B skos:exactMatch OMIM:252920 mucopolysaccharidosis, type 3b semapv:UnspecifiedMatching MONDO:0009656 mucopolysaccharidosis type 3B skos:exactMatch Orphanet:79270 Sanfilippo syndrome type B semapv:UnspecifiedMatching MONDO:0009656 mucopolysaccharidosis type 3B skos:exactMatch SCTID:59990008 semapv:UnspecifiedMatching MONDO:0009656 mucopolysaccharidosis type 3B skos:exactMatch UMLS:C0086648 semapv:UnspecifiedMatching MONDO:0009656 mucopolysaccharidosis type 3B skos:exactMatch icd11.foundation:117303909 Mucopolysaccharidosis type 3B semapv:UnspecifiedMatching MONDO:0009657 mucopolysaccharidosis type 3C skos:exactMatch DOID:0111393 mucopolysaccharidosis type IIIC semapv:UnspecifiedMatching MONDO:0009657 mucopolysaccharidosis type 3C skos:exactMatch MEDGEN:39477 semapv:UnspecifiedMatching MONDO:0009657 mucopolysaccharidosis type 3C skos:exactMatch NCIT:C84899 Mucopolysaccharidosis Type IIIC semapv:UnspecifiedMatching MONDO:0009657 mucopolysaccharidosis type 3C skos:exactMatch OMIM:252930 mucopolysaccharidosis, type 3c semapv:UnspecifiedMatching MONDO:0009657 mucopolysaccharidosis type 3C skos:exactMatch Orphanet:79271 Sanfilippo syndrome type C semapv:UnspecifiedMatching MONDO:0009657 mucopolysaccharidosis type 3C skos:exactMatch SCTID:75238000 semapv:UnspecifiedMatching MONDO:0009657 mucopolysaccharidosis type 3C skos:exactMatch UMLS:C0086649 semapv:UnspecifiedMatching MONDO:0009657 mucopolysaccharidosis type 3C skos:exactMatch icd11.foundation:1755913480 Mucopolysaccharidosis type 3C semapv:UnspecifiedMatching MONDO:0009658 mucopolysaccharidosis type 3D skos:exactMatch DOID:0111402 mucopolysaccharidosis type IIID semapv:UnspecifiedMatching MONDO:0009658 mucopolysaccharidosis type 3D skos:exactMatch MEDGEN:88602 semapv:UnspecifiedMatching MONDO:0009658 mucopolysaccharidosis type 3D skos:exactMatch NCIT:C84900 Mucopolysaccharidosis Type IIID semapv:UnspecifiedMatching MONDO:0009658 mucopolysaccharidosis type 3D skos:exactMatch OMIM:252940 mucopolysaccharidosis, type 3d semapv:UnspecifiedMatching MONDO:0009658 mucopolysaccharidosis type 3D skos:exactMatch Orphanet:79272 Sanfilippo syndrome type D semapv:UnspecifiedMatching MONDO:0009658 mucopolysaccharidosis type 3D skos:exactMatch SCTID:15892005 semapv:UnspecifiedMatching MONDO:0009658 mucopolysaccharidosis type 3D skos:exactMatch UMLS:C0086650 semapv:UnspecifiedMatching MONDO:0009658 mucopolysaccharidosis type 3D skos:exactMatch icd11.foundation:1780990193 Mucopolysaccharidosis type 3D semapv:UnspecifiedMatching MONDO:0009659 mucopolysaccharidosis type 4A skos:exactMatch DOID:0111391 mucopolysaccharidosis IVA semapv:UnspecifiedMatching MONDO:0009659 mucopolysaccharidosis type 4A skos:exactMatch ICD10CM:E76.210 Morquio A mucopolysaccharidoses semapv:UnspecifiedMatching MONDO:0009659 mucopolysaccharidosis type 4A skos:exactMatch MEDGEN:43375 semapv:UnspecifiedMatching MONDO:0009659 mucopolysaccharidosis type 4A skos:exactMatch NCIT:C84901 Mucopolysaccharidosis Type IVA semapv:UnspecifiedMatching MONDO:0009659 mucopolysaccharidosis type 4A skos:exactMatch OMIM:253000 mucopolysaccharidosis, type 4a semapv:UnspecifiedMatching MONDO:0009659 mucopolysaccharidosis type 4A skos:exactMatch Orphanet:309297 Mucopolysaccharidosis type 4A semapv:UnspecifiedMatching MONDO:0009659 mucopolysaccharidosis type 4A skos:exactMatch SCTID:7259005 semapv:UnspecifiedMatching MONDO:0009659 mucopolysaccharidosis type 4A skos:exactMatch UMLS:C0086651 semapv:UnspecifiedMatching MONDO:0009659 mucopolysaccharidosis type 4A skos:exactMatch icd11.foundation:1919173641 Mucopolysaccharidosis type 4A semapv:UnspecifiedMatching MONDO:0009660 mucopolysaccharidosis type 4B skos:exactMatch DOID:0111392 mucopolysaccharidosis type IVB semapv:UnspecifiedMatching MONDO:0009660 mucopolysaccharidosis type 4B skos:exactMatch ICD10CM:E76.211 Morquio B mucopolysaccharidoses semapv:UnspecifiedMatching MONDO:0009660 mucopolysaccharidosis type 4B skos:exactMatch MEDGEN:43376 semapv:UnspecifiedMatching MONDO:0009660 mucopolysaccharidosis type 4B skos:exactMatch NCIT:C84902 Mucopolysaccharidosis Type IVB semapv:UnspecifiedMatching MONDO:0009660 mucopolysaccharidosis type 4B skos:exactMatch OMIM:253010 mucopolysaccharidosis, type 4b semapv:UnspecifiedMatching MONDO:0009660 mucopolysaccharidosis type 4B skos:exactMatch Orphanet:309310 Mucopolysaccharidosis type 4B semapv:UnspecifiedMatching MONDO:0009660 mucopolysaccharidosis type 4B skos:exactMatch SCTID:238044004 semapv:UnspecifiedMatching MONDO:0009660 mucopolysaccharidosis type 4B skos:exactMatch UMLS:C0086652 semapv:UnspecifiedMatching MONDO:0009660 mucopolysaccharidosis type 4B skos:exactMatch icd11.foundation:1479415032 Mucopolysaccharidosis type 4B semapv:UnspecifiedMatching MONDO:0009661 mucopolysaccharidosis type 6 skos:exactMatch DOID:12800 mucopolysaccharidosis VI semapv:UnspecifiedMatching MONDO:0009661 mucopolysaccharidosis type 6 skos:exactMatch MEDGEN:44514 semapv:UnspecifiedMatching MONDO:0009661 mucopolysaccharidosis type 6 skos:exactMatch NCIT:C61264 Maroteaux-Lamy Syndrome semapv:UnspecifiedMatching MONDO:0009661 mucopolysaccharidosis type 6 skos:exactMatch OMIM:253200 mucopolysaccharidosis, type 6 semapv:UnspecifiedMatching MONDO:0009661 mucopolysaccharidosis type 6 skos:exactMatch Orphanet:583 Mucopolysaccharidosis type 6 semapv:UnspecifiedMatching MONDO:0009661 mucopolysaccharidosis type 6 skos:exactMatch SCTID:52677002 semapv:UnspecifiedMatching MONDO:0009661 mucopolysaccharidosis type 6 skos:exactMatch SCTID:69463008 semapv:UnspecifiedMatching MONDO:0009661 mucopolysaccharidosis type 6 skos:exactMatch UMLS:C0026709 semapv:UnspecifiedMatching MONDO:0009661 mucopolysaccharidosis type 6 skos:exactMatch icd11.foundation:1288379621 Mucopolysaccharidosis type 6 semapv:UnspecifiedMatching MONDO:0009661 mucopolysaccharidosis type 6 skos:exactMatch mesh:D009087 semapv:UnspecifiedMatching MONDO:0009662 mucopolysaccharidosis type 7 skos:exactMatch DOID:12803 mucopolysaccharidosis type VII semapv:UnspecifiedMatching MONDO:0009662 mucopolysaccharidosis type 7 skos:exactMatch MEDGEN:43108 semapv:UnspecifiedMatching MONDO:0009662 mucopolysaccharidosis type 7 skos:exactMatch NCIT:C84903 Sly Syndrome semapv:UnspecifiedMatching MONDO:0009662 mucopolysaccharidosis type 7 skos:exactMatch OMIM:253220 mucopolysaccharidosis, type 7 semapv:UnspecifiedMatching MONDO:0009662 mucopolysaccharidosis type 7 skos:exactMatch Orphanet:584 Mucopolysaccharidosis type 7 semapv:UnspecifiedMatching MONDO:0009662 mucopolysaccharidosis type 7 skos:exactMatch SCTID:43916004 semapv:UnspecifiedMatching MONDO:0009662 mucopolysaccharidosis type 7 skos:exactMatch UMLS:C0085132 semapv:UnspecifiedMatching MONDO:0009662 mucopolysaccharidosis type 7 skos:exactMatch icd11.foundation:1563668250 Mucopolysaccharidosis type 7 semapv:UnspecifiedMatching MONDO:0009662 mucopolysaccharidosis type 7 skos:exactMatch mesh:D016538 semapv:UnspecifiedMatching MONDO:0009663 mucus inspissation of respiratory tract skos:exactMatch MEDGEN:340702 semapv:UnspecifiedMatching MONDO:0009663 mucus inspissation of respiratory tract skos:exactMatch OMIM:253240 mucus inspissation of respiratory tract semapv:UnspecifiedMatching MONDO:0009663 mucus inspissation of respiratory tract skos:exactMatch UMLS:C1854729 semapv:UnspecifiedMatching MONDO:0009663 mucus inspissation of respiratory tract skos:exactMatch mesh:C565366 semapv:UnspecifiedMatching MONDO:0009664 mulibrey nanism skos:exactMatch DOID:0050436 mulibrey nanism semapv:UnspecifiedMatching MONDO:0009664 mulibrey nanism skos:exactMatch MEDGEN:99347 semapv:UnspecifiedMatching MONDO:0009664 mulibrey nanism skos:exactMatch NCIT:C84906 Mulibrey Nanism semapv:UnspecifiedMatching MONDO:0009664 mulibrey nanism skos:exactMatch OMIM:253250 mulibrey nanism semapv:UnspecifiedMatching MONDO:0009664 mulibrey nanism skos:exactMatch Orphanet:2576 Mulibrey nanism semapv:UnspecifiedMatching MONDO:0009664 mulibrey nanism skos:exactMatch SCTID:81604003 semapv:UnspecifiedMatching MONDO:0009664 mulibrey nanism skos:exactMatch UMLS:C0524582 semapv:UnspecifiedMatching MONDO:0009664 mulibrey nanism skos:exactMatch icd11.foundation:1167260635 MULIBREY nanism semapv:UnspecifiedMatching MONDO:0009664 mulibrey nanism skos:exactMatch mesh:D050336 semapv:UnspecifiedMatching MONDO:0009665 biotinidase deficiency skos:exactMatch DOID:856 biotinidase deficiency semapv:UnspecifiedMatching MONDO:0009665 biotinidase deficiency skos:exactMatch ICD10CM:D81.810 Biotinidase deficiency semapv:UnspecifiedMatching MONDO:0009665 biotinidase deficiency skos:exactMatch MEDGEN:66323 semapv:UnspecifiedMatching MONDO:0009665 biotinidase deficiency skos:exactMatch NCIT:C84598 Biotinidase Deficiency semapv:UnspecifiedMatching MONDO:0009665 biotinidase deficiency skos:exactMatch OMIM:253260 biotinidase deficiency semapv:UnspecifiedMatching MONDO:0009665 biotinidase deficiency skos:exactMatch Orphanet:79241 Biotinidase deficiency semapv:UnspecifiedMatching MONDO:0009665 biotinidase deficiency skos:exactMatch SCTID:8808004 semapv:UnspecifiedMatching MONDO:0009665 biotinidase deficiency skos:exactMatch UMLS:C0220754 semapv:UnspecifiedMatching MONDO:0009665 biotinidase deficiency skos:exactMatch mesh:D028921 semapv:UnspecifiedMatching MONDO:0009666 holocarboxylase synthetase deficiency skos:exactMatch DOID:859 holocarboxylase synthetase deficiency semapv:UnspecifiedMatching MONDO:0009666 holocarboxylase synthetase deficiency skos:exactMatch MEDGEN:120653 semapv:UnspecifiedMatching MONDO:0009666 holocarboxylase synthetase deficiency skos:exactMatch NCIT:C98842 Holocarboxylase Synthetase Deficiency semapv:UnspecifiedMatching MONDO:0009666 holocarboxylase synthetase deficiency skos:exactMatch OMIM:253270 holocarboxylase synthetase deficiency semapv:UnspecifiedMatching MONDO:0009666 holocarboxylase synthetase deficiency skos:exactMatch Orphanet:79242 Holocarboxylase synthetase deficiency semapv:UnspecifiedMatching MONDO:0009666 holocarboxylase synthetase deficiency skos:exactMatch SCTID:15307001 semapv:UnspecifiedMatching MONDO:0009666 holocarboxylase synthetase deficiency skos:exactMatch SCTID:360369003 semapv:UnspecifiedMatching MONDO:0009666 holocarboxylase synthetase deficiency skos:exactMatch UMLS:C0268581 semapv:UnspecifiedMatching MONDO:0009666 holocarboxylase synthetase deficiency skos:exactMatch mesh:D028922 semapv:UnspecifiedMatching MONDO:0009667 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 skos:exactMatch DOID:0111236 congenital muscular dystrophy-dystroglycanopathy type A3 semapv:UnspecifiedMatching MONDO:0009667 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 skos:exactMatch MEDGEN:462869 semapv:UnspecifiedMatching MONDO:0009667 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 skos:exactMatch NCIT:C126740 Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 3 semapv:UnspecifiedMatching MONDO:0009667 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 skos:exactMatch OMIM:253280 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 3 semapv:UnspecifiedMatching MONDO:0009667 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 skos:exactMatch UMLS:C3151519 semapv:UnspecifiedMatching MONDO:0009668 lethal multiple pterygium syndrome skos:exactMatch MEDGEN:381473 semapv:UnspecifiedMatching MONDO:0009668 lethal multiple pterygium syndrome skos:exactMatch NCIT:C101038 Lethal Multiple Pterygium Syndrome semapv:UnspecifiedMatching MONDO:0009668 lethal multiple pterygium syndrome skos:exactMatch OMIM:253290 multiple pterygium syndrome, lethal type semapv:UnspecifiedMatching MONDO:0009668 lethal multiple pterygium syndrome skos:exactMatch Orphanet:33108 Lethal multiple pterygium syndrome semapv:UnspecifiedMatching MONDO:0009668 lethal multiple pterygium syndrome skos:exactMatch SCTID:60192008 semapv:UnspecifiedMatching MONDO:0009668 lethal multiple pterygium syndrome skos:exactMatch UMLS:C1854678 semapv:UnspecifiedMatching MONDO:0009669 spinal muscular atrophy, type 1 skos:exactMatch DOID:13137 Werdnig-Hoffmann disease semapv:UnspecifiedMatching MONDO:0009669 spinal muscular atrophy, type 1 skos:exactMatch MEDGEN:1845578 semapv:UnspecifiedMatching MONDO:0009669 spinal muscular atrophy, type 1 skos:exactMatch NCIT:C98670 Werdnig-Hoffmann Disease semapv:UnspecifiedMatching MONDO:0009669 spinal muscular atrophy, type 1 skos:exactMatch OMIM:253300 spinal muscular atrophy, type 1 semapv:UnspecifiedMatching MONDO:0009669 spinal muscular atrophy, type 1 skos:exactMatch Orphanet:83330 Proximal spinal muscular atrophy type 1 semapv:UnspecifiedMatching MONDO:0009669 spinal muscular atrophy, type 1 skos:exactMatch SCTID:64383006 semapv:UnspecifiedMatching MONDO:0009669 spinal muscular atrophy, type 1 skos:exactMatch UMLS:C5848259 semapv:UnspecifiedMatching MONDO:0009669 spinal muscular atrophy, type 1 skos:exactMatch icd11.foundation:915903258 Infantile spinal muscular atrophy, Type I semapv:UnspecifiedMatching MONDO:0009670 lethal congenital contracture syndrome 1 skos:exactMatch DOID:0060559 lethal congenital contracture syndrome 1 semapv:UnspecifiedMatching MONDO:0009670 lethal congenital contracture syndrome 1 skos:exactMatch MEDGEN:344338 semapv:UnspecifiedMatching MONDO:0009670 lethal congenital contracture syndrome 1 skos:exactMatch OMIM:253310 lethal congenital contracture syndrome 1 semapv:UnspecifiedMatching MONDO:0009670 lethal congenital contracture syndrome 1 skos:exactMatch Orphanet:1486 Lethal congenital contracture syndrome type 1 semapv:UnspecifiedMatching MONDO:0009670 lethal congenital contracture syndrome 1 skos:exactMatch SCTID:715418007 semapv:UnspecifiedMatching MONDO:0009670 lethal congenital contracture syndrome 1 skos:exactMatch UMLS:C1854664 semapv:UnspecifiedMatching MONDO:0009670 lethal congenital contracture syndrome 1 skos:exactMatch mesh:C537194 semapv:UnspecifiedMatching MONDO:0009671 intellectual disability-myopathy-short stature-endocrine defect syndrome skos:exactMatch MEDGEN:381471 semapv:UnspecifiedMatching MONDO:0009671 intellectual disability-myopathy-short stature-endocrine defect syndrome skos:exactMatch OMIM:253320 chudley syndrome semapv:UnspecifiedMatching MONDO:0009671 intellectual disability-myopathy-short stature-endocrine defect syndrome skos:exactMatch Orphanet:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome semapv:UnspecifiedMatching MONDO:0009671 intellectual disability-myopathy-short stature-endocrine defect syndrome skos:exactMatch SCTID:764959000 semapv:UnspecifiedMatching MONDO:0009671 intellectual disability-myopathy-short stature-endocrine defect syndrome skos:exactMatch UMLS:C1854663 semapv:UnspecifiedMatching MONDO:0009671 intellectual disability-myopathy-short stature-endocrine defect syndrome skos:exactMatch mesh:C535458 semapv:UnspecifiedMatching MONDO:0009672 spinal muscular atrophy, type III skos:exactMatch DOID:12376 juvenile spinal muscular atrophy semapv:UnspecifiedMatching MONDO:0009672 spinal muscular atrophy, type III skos:exactMatch MEDGEN:101816 semapv:UnspecifiedMatching MONDO:0009672 spinal muscular atrophy, type III skos:exactMatch NCIT:C118847 Spinal Muscular Atrophy Type 3 semapv:UnspecifiedMatching MONDO:0009672 spinal muscular atrophy, type III skos:exactMatch OMIM:253400 spinal muscular atrophy, type 3 semapv:UnspecifiedMatching MONDO:0009672 spinal muscular atrophy, type III skos:exactMatch Orphanet:83419 Proximal spinal muscular atrophy type 3 semapv:UnspecifiedMatching MONDO:0009672 spinal muscular atrophy, type III skos:exactMatch SCTID:54280009 semapv:UnspecifiedMatching MONDO:0009672 spinal muscular atrophy, type III skos:exactMatch UMLS:C0152109 semapv:UnspecifiedMatching MONDO:0009672 spinal muscular atrophy, type III skos:exactMatch icd11.foundation:677572815 Juvenile form spinal muscular dystrophy, Type III semapv:UnspecifiedMatching MONDO:0009673 spinal muscular atrophy, type II skos:exactMatch DOID:0050530 intermediate spinal muscular atrophy semapv:UnspecifiedMatching MONDO:0009673 spinal muscular atrophy, type II skos:exactMatch MEDGEN:95975 semapv:UnspecifiedMatching MONDO:0009673 spinal muscular atrophy, type II skos:exactMatch OMIM:253550 spinal muscular atrophy, type 2 semapv:UnspecifiedMatching MONDO:0009673 spinal muscular atrophy, type II skos:exactMatch Orphanet:83418 Proximal spinal muscular atrophy type 2 semapv:UnspecifiedMatching MONDO:0009673 spinal muscular atrophy, type II skos:exactMatch SCTID:128212001 semapv:UnspecifiedMatching MONDO:0009673 spinal muscular atrophy, type II skos:exactMatch UMLS:C0393538 semapv:UnspecifiedMatching MONDO:0009673 spinal muscular atrophy, type II skos:exactMatch icd11.foundation:867148636 Late infantile spinal muscular atrophy, Type II semapv:UnspecifiedMatching MONDO:0009673 spinal muscular atrophy, type II skos:exactMatch mesh:C536879 semapv:UnspecifiedMatching MONDO:0009674 muscular dystrophy, adult-onset, with leukoencephalopathy skos:exactMatch MEDGEN:340269 semapv:UnspecifiedMatching MONDO:0009674 muscular dystrophy, adult-onset, with leukoencephalopathy skos:exactMatch OMIM:253590 muscular dystrophy, adult-onset, with leukoencephalopathy semapv:UnspecifiedMatching MONDO:0009674 muscular dystrophy, adult-onset, with leukoencephalopathy skos:exactMatch UMLS:C1854646 semapv:UnspecifiedMatching MONDO:0009674 muscular dystrophy, adult-onset, with leukoencephalopathy skos:exactMatch mesh:C565361 semapv:UnspecifiedMatching MONDO:0009675 autosomal recessive limb-girdle muscular dystrophy type 2A skos:exactMatch DOID:0110275 autosomal recessive limb-girdle muscular dystrophy type 2A semapv:UnspecifiedMatching MONDO:0009675 autosomal recessive limb-girdle muscular dystrophy type 2A skos:exactMatch MEDGEN:358391 semapv:UnspecifiedMatching MONDO:0009675 autosomal recessive limb-girdle muscular dystrophy type 2A skos:exactMatch NCIT:C142079 Limb-Girdle Muscular Dystrophy Type 2A semapv:UnspecifiedMatching MONDO:0009675 autosomal recessive limb-girdle muscular dystrophy type 2A skos:exactMatch OMIM:253600 muscular dystrophy, limb-girdle, autosomal recessive 1 semapv:UnspecifiedMatching MONDO:0009675 autosomal recessive limb-girdle muscular dystrophy type 2A skos:exactMatch Orphanet:267 Calpain-3-related limb-girdle muscular dystrophy R1 semapv:UnspecifiedMatching MONDO:0009675 autosomal recessive limb-girdle muscular dystrophy type 2A skos:exactMatch SCTID:715341003 semapv:UnspecifiedMatching MONDO:0009675 autosomal recessive limb-girdle muscular dystrophy type 2A skos:exactMatch UMLS:C1869123 semapv:UnspecifiedMatching MONDO:0009675 autosomal recessive limb-girdle muscular dystrophy type 2A skos:exactMatch mesh:C535895 semapv:UnspecifiedMatching MONDO:0009676 autosomal recessive limb-girdle muscular dystrophy type 2B skos:exactMatch DOID:0110276 autosomal recessive limb-girdle muscular dystrophy type 2B semapv:UnspecifiedMatching MONDO:0009676 autosomal recessive limb-girdle muscular dystrophy type 2B skos:exactMatch MEDGEN:338149 semapv:UnspecifiedMatching MONDO:0009676 autosomal recessive limb-girdle muscular dystrophy type 2B skos:exactMatch NCIT:C142080 Limb-Girdle Muscular Dystrophy Type 2B semapv:UnspecifiedMatching MONDO:0009676 autosomal recessive limb-girdle muscular dystrophy type 2B skos:exactMatch OMIM:253601 muscular dystrophy, limb-girdle, autosomal recessive 2 semapv:UnspecifiedMatching MONDO:0009676 autosomal recessive limb-girdle muscular dystrophy type 2B skos:exactMatch Orphanet:268 Dysferlin-related limb-girdle muscular dystrophy R2 semapv:UnspecifiedMatching MONDO:0009676 autosomal recessive limb-girdle muscular dystrophy type 2B skos:exactMatch SCTID:718179003 semapv:UnspecifiedMatching MONDO:0009676 autosomal recessive limb-girdle muscular dystrophy type 2B skos:exactMatch UMLS:C1850889 semapv:UnspecifiedMatching MONDO:0009676 autosomal recessive limb-girdle muscular dystrophy type 2B skos:exactMatch mesh:C535899 semapv:UnspecifiedMatching MONDO:0009677 autosomal recessive limb-girdle muscular dystrophy type 2C skos:exactMatch DOID:0110277 autosomal recessive limb-girdle muscular dystrophy type 2C semapv:UnspecifiedMatching MONDO:0009677 autosomal recessive limb-girdle muscular dystrophy type 2C skos:exactMatch MEDGEN:98045 semapv:UnspecifiedMatching MONDO:0009677 autosomal recessive limb-girdle muscular dystrophy type 2C skos:exactMatch OMIM:253700 muscular dystrophy, limb-girdle, autosomal recessive 5 semapv:UnspecifiedMatching MONDO:0009677 autosomal recessive limb-girdle muscular dystrophy type 2C skos:exactMatch Orphanet:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 semapv:UnspecifiedMatching MONDO:0009677 autosomal recessive limb-girdle muscular dystrophy type 2C skos:exactMatch UMLS:C0410173 semapv:UnspecifiedMatching MONDO:0009677 autosomal recessive limb-girdle muscular dystrophy type 2C skos:exactMatch mesh:C535900 semapv:UnspecifiedMatching MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 skos:exactMatch DOID:0050559 Fukuyama congenital muscular dystrophy semapv:UnspecifiedMatching MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 skos:exactMatch MEDGEN:140820 semapv:UnspecifiedMatching MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 skos:exactMatch NCIT:C126741 Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 4 semapv:UnspecifiedMatching MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 skos:exactMatch OMIM:253800 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 4 semapv:UnspecifiedMatching MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 skos:exactMatch Orphanet:272 Congenital muscular dystrophy, Fukuyama type semapv:UnspecifiedMatching MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 skos:exactMatch SCTID:111502003 semapv:UnspecifiedMatching MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 skos:exactMatch UMLS:C0410174 semapv:UnspecifiedMatching MONDO:0009679 arthrogryposis due to muscular dystrophy skos:exactMatch MEDGEN:342608 semapv:UnspecifiedMatching MONDO:0009679 arthrogryposis due to muscular dystrophy skos:exactMatch UMLS:C1850865 semapv:UnspecifiedMatching MONDO:0009679 arthrogryposis due to muscular dystrophy skos:exactMatch mesh:C564985 semapv:UnspecifiedMatching MONDO:0009680 congenital muscular dystrophy-infantile cataract-hypogonadism syndrome skos:exactMatch MEDGEN:376896 semapv:UnspecifiedMatching MONDO:0009680 congenital muscular dystrophy-infantile cataract-hypogonadism syndrome skos:exactMatch OMIM:254000 muscular dystrophy, congenital, with infantile cataract and hypogonadism semapv:UnspecifiedMatching MONDO:0009680 congenital muscular dystrophy-infantile cataract-hypogonadism syndrome skos:exactMatch Orphanet:1875 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome semapv:UnspecifiedMatching MONDO:0009680 congenital muscular dystrophy-infantile cataract-hypogonadism syndrome skos:exactMatch UMLS:C1850864 semapv:UnspecifiedMatching MONDO:0009681 Ullrich congenital muscular dystrophy 1A skos:exactMatch DOID:0060946 Ullrich congenital muscular dystrophy 1A semapv:UnspecifiedMatching MONDO:0009681 Ullrich congenital muscular dystrophy 1A skos:exactMatch MEDGEN:98046 semapv:UnspecifiedMatching MONDO:0009681 Ullrich congenital muscular dystrophy 1A skos:exactMatch OMIM:254090 ullrich congenital muscular dystrophy 1a semapv:UnspecifiedMatching MONDO:0009681 Ullrich congenital muscular dystrophy 1A skos:exactMatch UMLS:C0410179 semapv:UnspecifiedMatching MONDO:0009682 muscular dystrophy, congenital, with rapid progression skos:exactMatch DOID:0061202 congenital muscular dystrophy with rapid progression semapv:UnspecifiedMatching MONDO:0009682 muscular dystrophy, congenital, with rapid progression skos:exactMatch MEDGEN:338135 semapv:UnspecifiedMatching MONDO:0009682 muscular dystrophy, congenital, with rapid progression skos:exactMatch OMIM:254100 muscular dystrophy, congenital, with rapid progression semapv:UnspecifiedMatching MONDO:0009682 muscular dystrophy, congenital, with rapid progression skos:exactMatch UMLS:C1850840 semapv:UnspecifiedMatching MONDO:0009682 muscular dystrophy, congenital, with rapid progression skos:exactMatch mesh:C564983 semapv:UnspecifiedMatching MONDO:0009683 autosomal recessive limb-girdle muscular dystrophy type 2H skos:exactMatch DOID:0110282 autosomal recessive limb-girdle muscular dystrophy type 2H semapv:UnspecifiedMatching MONDO:0009683 autosomal recessive limb-girdle muscular dystrophy type 2H skos:exactMatch MEDGEN:78750 semapv:UnspecifiedMatching MONDO:0009683 autosomal recessive limb-girdle muscular dystrophy type 2H skos:exactMatch OMIM:254110 muscular dystrophy, limb-girdle, autosomal recessive 8 semapv:UnspecifiedMatching MONDO:0009683 autosomal recessive limb-girdle muscular dystrophy type 2H skos:exactMatch Orphanet:1878 TRIM32-related limb-girdle muscular dystrophy R8 semapv:UnspecifiedMatching MONDO:0009683 autosomal recessive limb-girdle muscular dystrophy type 2H skos:exactMatch SCTID:43226001 semapv:UnspecifiedMatching MONDO:0009683 autosomal recessive limb-girdle muscular dystrophy type 2H skos:exactMatch UMLS:C0270968 semapv:UnspecifiedMatching MONDO:0009683 autosomal recessive limb-girdle muscular dystrophy type 2H skos:exactMatch mesh:C535897 semapv:UnspecifiedMatching MONDO:0009684 muscular hypertonia, lethal skos:exactMatch MEDGEN:342600 semapv:UnspecifiedMatching MONDO:0009684 muscular hypertonia, lethal skos:exactMatch OMIM:254120 muscular hypertonia, lethal semapv:UnspecifiedMatching MONDO:0009684 muscular hypertonia, lethal skos:exactMatch UMLS:C1850827 semapv:UnspecifiedMatching MONDO:0009684 muscular hypertonia, lethal skos:exactMatch mesh:C564982 semapv:UnspecifiedMatching MONDO:0009685 Miyoshi myopathy skos:exactMatch DOID:0070198 Miyoshi muscular dystrophy semapv:UnspecifiedMatching MONDO:0009685 Miyoshi myopathy skos:exactMatch MEDGEN:1790866 semapv:UnspecifiedMatching MONDO:0009685 Miyoshi myopathy skos:exactMatch NCIT:C118846 Miyoshi Muscular Dystrophy 1 semapv:UnspecifiedMatching MONDO:0009685 Miyoshi myopathy skos:exactMatch OMIMPS:254130 Miyoshi muscular dystrophy semapv:UnspecifiedMatching MONDO:0009685 Miyoshi myopathy skos:exactMatch Orphanet:45448 Miyoshi myopathy semapv:UnspecifiedMatching MONDO:0009685 Miyoshi myopathy skos:exactMatch UMLS:C5553104 semapv:UnspecifiedMatching MONDO:0009685 Miyoshi myopathy skos:exactMatch mesh:C537480 semapv:UnspecifiedMatching MONDO:0009686 musk, inability to smell skos:exactMatch MEDGEN:342594 semapv:UnspecifiedMatching MONDO:0009686 musk, inability to smell skos:exactMatch OMIM:254150 musk, inability to smell semapv:UnspecifiedMatching MONDO:0009686 musk, inability to smell skos:exactMatch UMLS:C1850807 semapv:UnspecifiedMatching MONDO:0009686 musk, inability to smell skos:exactMatch mesh:C564980 semapv:UnspecifiedMatching MONDO:0009687 myasthenia, congenital, refractory to acetylcholinesterase inhibitors skos:exactMatch MEDGEN:338127 semapv:UnspecifiedMatching MONDO:0009687 myasthenia, congenital, refractory to acetylcholinesterase inhibitors skos:exactMatch OMIM:254190 myasthenia, congenital, refractory to acetylcholinesterase inhibitors semapv:UnspecifiedMatching MONDO:0009687 myasthenia, congenital, refractory to acetylcholinesterase inhibitors skos:exactMatch UMLS:C1850806 semapv:UnspecifiedMatching MONDO:0009687 myasthenia, congenital, refractory to acetylcholinesterase inhibitors skos:exactMatch mesh:C564979 semapv:UnspecifiedMatching MONDO:0009688 myasthenia gravis skos:exactMatch DOID:437 myasthenia gravis semapv:UnspecifiedMatching MONDO:0009688 myasthenia gravis skos:exactMatch EFO:0004991 semapv:UnspecifiedMatching MONDO:0009688 myasthenia gravis skos:exactMatch ICD10CM:G70.0 Myasthenia gravis semapv:UnspecifiedMatching MONDO:0009688 myasthenia gravis skos:exactMatch MEDGEN:7764 semapv:UnspecifiedMatching MONDO:0009688 myasthenia gravis skos:exactMatch NCIT:C60989 Myasthenia Gravis semapv:UnspecifiedMatching MONDO:0009688 myasthenia gravis skos:exactMatch OMIM:254200 myasthenia gravis semapv:UnspecifiedMatching MONDO:0009688 myasthenia gravis skos:exactMatch Orphanet:589 Myasthenia gravis semapv:UnspecifiedMatching MONDO:0009688 myasthenia gravis skos:exactMatch SCTID:91637004 semapv:UnspecifiedMatching MONDO:0009688 myasthenia gravis skos:exactMatch UMLS:C0026896 semapv:UnspecifiedMatching MONDO:0009688 myasthenia gravis skos:exactMatch icd11.foundation:1270100227 Myasthenia gravis semapv:UnspecifiedMatching MONDO:0009688 myasthenia gravis skos:exactMatch mesh:D009157 semapv:UnspecifiedMatching MONDO:0009689 congenital myasthenic syndrome 6 skos:exactMatch DOID:0110671 congenital myasthenic syndrome 6 semapv:UnspecifiedMatching MONDO:0009689 congenital myasthenic syndrome 6 skos:exactMatch MEDGEN:140751 semapv:UnspecifiedMatching MONDO:0009689 congenital myasthenic syndrome 6 skos:exactMatch NCIT:C132292 Presynaptic Congenital Myasthenic Syndrome 6 semapv:UnspecifiedMatching MONDO:0009689 congenital myasthenic syndrome 6 skos:exactMatch OMIM:254210 myasthenic syndrome, congenital, 6, presynaptic semapv:UnspecifiedMatching MONDO:0009689 congenital myasthenic syndrome 6 skos:exactMatch SCTID:230670003 semapv:UnspecifiedMatching MONDO:0009689 congenital myasthenic syndrome 6 skos:exactMatch UMLS:C0393929 semapv:UnspecifiedMatching MONDO:0009689 congenital myasthenic syndrome 6 skos:exactMatch mesh:C535759 semapv:UnspecifiedMatching MONDO:0009690 congenital myasthenic syndrome 10 skos:exactMatch DOID:0110668 congenital myasthenic syndrome 10 semapv:UnspecifiedMatching MONDO:0009690 congenital myasthenic syndrome 10 skos:exactMatch MEDGEN:376880 semapv:UnspecifiedMatching MONDO:0009690 congenital myasthenic syndrome 10 skos:exactMatch OMIM:254300 myasthenic syndrome, congenital, 10 semapv:UnspecifiedMatching MONDO:0009690 congenital myasthenic syndrome 10 skos:exactMatch SCTID:230687001 semapv:UnspecifiedMatching MONDO:0009690 congenital myasthenic syndrome 10 skos:exactMatch UMLS:C1850792 semapv:UnspecifiedMatching MONDO:0009690 congenital myasthenic syndrome 10 skos:exactMatch mesh:C563716 semapv:UnspecifiedMatching MONDO:0009691 mycosis fungoides skos:exactMatch DOID:8691 mycosis fungoides semapv:UnspecifiedMatching MONDO:0009691 mycosis fungoides skos:exactMatch EFO:1001051 semapv:UnspecifiedMatching MONDO:0009691 mycosis fungoides skos:exactMatch ICD10CM:C84.0 Mycosis fungoides semapv:UnspecifiedMatching MONDO:0009691 mycosis fungoides skos:exactMatch MEDGEN:7771 semapv:UnspecifiedMatching MONDO:0009691 mycosis fungoides skos:exactMatch NCIT:C3246 Mycosis Fungoides semapv:UnspecifiedMatching MONDO:0009691 mycosis fungoides skos:exactMatch OMIM:254400 mycosis fungoides semapv:UnspecifiedMatching MONDO:0009691 mycosis fungoides skos:exactMatch Orphanet:2584 Classic mycosis fungoides semapv:UnspecifiedMatching MONDO:0009691 mycosis fungoides skos:exactMatch SCTID:118618005 semapv:UnspecifiedMatching MONDO:0009691 mycosis fungoides skos:exactMatch UMLS:C0026948 semapv:UnspecifiedMatching MONDO:0009691 mycosis fungoides skos:exactMatch icd11.foundation:901411509 Mycosis fungoides semapv:UnspecifiedMatching MONDO:0009691 mycosis fungoides skos:exactMatch mesh:D009182 semapv:UnspecifiedMatching MONDO:0009692 primary myelofibrosis skos:exactMatch DOID:4971 myelofibrosis semapv:UnspecifiedMatching MONDO:0009692 primary myelofibrosis skos:exactMatch EFO:0002430 semapv:UnspecifiedMatching MONDO:0009692 primary myelofibrosis skos:exactMatch ICD10CM:D47.4 Osteomyelofibrosis semapv:UnspecifiedMatching MONDO:0009692 primary myelofibrosis skos:exactMatch MEDGEN:7929 semapv:UnspecifiedMatching MONDO:0009692 primary myelofibrosis skos:exactMatch NCIT:C2862 Primary Myelofibrosis semapv:UnspecifiedMatching MONDO:0009692 primary myelofibrosis skos:exactMatch OMIM:254450 myelofibrosis semapv:UnspecifiedMatching MONDO:0009692 primary myelofibrosis skos:exactMatch Orphanet:824 Primary myelofibrosis semapv:UnspecifiedMatching MONDO:0009692 primary myelofibrosis skos:exactMatch UMLS:C0001815 semapv:UnspecifiedMatching MONDO:0009692 primary myelofibrosis skos:exactMatch icd11.foundation:1407285327 semapv:UnspecifiedMatching MONDO:0009692 primary myelofibrosis skos:exactMatch icd11.foundation:336704235 Primary myelofibrosis semapv:UnspecifiedMatching MONDO:0009692 primary myelofibrosis skos:exactMatch mesh:D055728 semapv:UnspecifiedMatching MONDO:0009693 plasma cell myeloma skos:exactMatch DOID:9538 multiple myeloma semapv:UnspecifiedMatching MONDO:0009693 plasma cell myeloma skos:exactMatch EFO:0001378 semapv:UnspecifiedMatching MONDO:0009693 plasma cell myeloma skos:exactMatch ICD10CM:C90.0 Multiple myeloma semapv:UnspecifiedMatching MONDO:0009693 plasma cell myeloma skos:exactMatch MEDGEN:10122 semapv:UnspecifiedMatching MONDO:0009693 plasma cell myeloma skos:exactMatch NCIT:C3242 Multiple Myeloma semapv:UnspecifiedMatching MONDO:0009693 plasma cell myeloma skos:exactMatch OMIM:254500 myeloma, multiple semapv:UnspecifiedMatching MONDO:0009693 plasma cell myeloma skos:exactMatch Orphanet:29073 Multiple myeloma semapv:UnspecifiedMatching MONDO:0009693 plasma cell myeloma skos:exactMatch UMLS:C0026764 semapv:UnspecifiedMatching MONDO:0009693 plasma cell myeloma skos:exactMatch icd11.foundation:1582389689 semapv:UnspecifiedMatching MONDO:0009693 plasma cell myeloma skos:exactMatch icd11.foundation:526287100 Plasma cell myeloma semapv:UnspecifiedMatching MONDO:0009693 plasma cell myeloma skos:exactMatch mesh:D009101 semapv:UnspecifiedMatching MONDO:0009694 myeloperoxidase deficiency skos:exactMatch MEDGEN:96015 semapv:UnspecifiedMatching MONDO:0009694 myeloperoxidase deficiency skos:exactMatch OMIM:254600 myeloperoxidase deficiency semapv:UnspecifiedMatching MONDO:0009694 myeloperoxidase deficiency skos:exactMatch Orphanet:2587 Myeloperoxidase deficiency semapv:UnspecifiedMatching MONDO:0009694 myeloperoxidase deficiency skos:exactMatch SCTID:234433009 semapv:UnspecifiedMatching MONDO:0009694 myeloperoxidase deficiency skos:exactMatch UMLS:C0398595 semapv:UnspecifiedMatching MONDO:0009694 myeloperoxidase deficiency skos:exactMatch icd11.foundation:1933575033 Myeloperoxidase deficiency semapv:UnspecifiedMatching MONDO:0009694 myeloperoxidase deficiency skos:exactMatch mesh:C562864 semapv:UnspecifiedMatching MONDO:0009695 myeloproliferative disease, autosomal recessive skos:exactMatch MEDGEN:338119 semapv:UnspecifiedMatching MONDO:0009695 myeloproliferative disease, autosomal recessive skos:exactMatch OMIM:254700 myeloproliferative disease, autosomal recessive semapv:UnspecifiedMatching MONDO:0009695 myeloproliferative disease, autosomal recessive skos:exactMatch UMLS:C1850779 semapv:UnspecifiedMatching MONDO:0009695 myeloproliferative disease, autosomal recessive skos:exactMatch mesh:C564977 semapv:UnspecifiedMatching MONDO:0009696 juvenile myoclonic epilepsy skos:exactMatch DOID:4890 juvenile myoclonic epilepsy semapv:UnspecifiedMatching MONDO:0009696 juvenile myoclonic epilepsy skos:exactMatch ICD10CM:G40.B Juvenile myoclonic epilepsy [impulsive petit mal] semapv:UnspecifiedMatching MONDO:0009696 juvenile myoclonic epilepsy skos:exactMatch MEDGEN:78738 semapv:UnspecifiedMatching MONDO:0009696 juvenile myoclonic epilepsy skos:exactMatch NCIT:C84796 Juvenile Myoclonic Epilepsy semapv:UnspecifiedMatching MONDO:0009696 juvenile myoclonic epilepsy skos:exactMatch OMIM:254770 epilepsy, myoclonic juvenile semapv:UnspecifiedMatching MONDO:0009696 juvenile myoclonic epilepsy skos:exactMatch OMIMPS:254770 Epilepsy, myoclonic juvenile semapv:UnspecifiedMatching MONDO:0009696 juvenile myoclonic epilepsy skos:exactMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:UnspecifiedMatching MONDO:0009696 juvenile myoclonic epilepsy skos:exactMatch SCTID:6204001 semapv:UnspecifiedMatching MONDO:0009696 juvenile myoclonic epilepsy skos:exactMatch UMLS:C0270853 semapv:UnspecifiedMatching MONDO:0009696 juvenile myoclonic epilepsy skos:exactMatch icd11.foundation:1014397110 Juvenile myoclonic epilepsy semapv:UnspecifiedMatching MONDO:0009696 juvenile myoclonic epilepsy skos:exactMatch mesh:D020190 semapv:UnspecifiedMatching MONDO:0009697 Lafora disease skos:exactMatch DOID:3534 Lafora disease semapv:UnspecifiedMatching MONDO:0009697 Lafora disease skos:exactMatch MEDGEN:155631 semapv:UnspecifiedMatching MONDO:0009697 Lafora disease skos:exactMatch NCIT:C84804 Lafora Disease semapv:UnspecifiedMatching MONDO:0009697 Lafora disease skos:exactMatch OMIMPS:254780 Myoclonic epilepsy of Lafora semapv:UnspecifiedMatching MONDO:0009697 Lafora disease skos:exactMatch Orphanet:501 Lafora disease semapv:UnspecifiedMatching MONDO:0009697 Lafora disease skos:exactMatch SCTID:230425004 semapv:UnspecifiedMatching MONDO:0009697 Lafora disease skos:exactMatch UMLS:C0751783 semapv:UnspecifiedMatching MONDO:0009697 Lafora disease skos:exactMatch mesh:D020192 semapv:UnspecifiedMatching MONDO:0009698 Unverricht-Lundborg syndrome skos:exactMatch DOID:0111452 progressive myoclonus epilepsy 1A semapv:UnspecifiedMatching MONDO:0009698 Unverricht-Lundborg syndrome skos:exactMatch DOID:3535 Unverricht-Lundborg syndrome semapv:UnspecifiedMatching MONDO:0009698 Unverricht-Lundborg syndrome skos:exactMatch MEDGEN:155923 semapv:UnspecifiedMatching MONDO:0009698 Unverricht-Lundborg syndrome skos:exactMatch OMIM:254800 myoclonic epilepsy of unverricht and lundborg semapv:UnspecifiedMatching MONDO:0009698 Unverricht-Lundborg syndrome skos:exactMatch Orphanet:308 Progressive myoclonic epilepsy type 1 semapv:UnspecifiedMatching MONDO:0009698 Unverricht-Lundborg syndrome skos:exactMatch SCTID:230423006 semapv:UnspecifiedMatching MONDO:0009698 Unverricht-Lundborg syndrome skos:exactMatch UMLS:C0751785 semapv:UnspecifiedMatching MONDO:0009698 Unverricht-Lundborg syndrome skos:exactMatch mesh:D020194 semapv:UnspecifiedMatching MONDO:0009699 action myoclonus-renal failure syndrome skos:exactMatch DOID:0111444 progressive myoclonus epilepsy 4 semapv:UnspecifiedMatching MONDO:0009699 action myoclonus-renal failure syndrome skos:exactMatch MEDGEN:155629 semapv:UnspecifiedMatching MONDO:0009699 action myoclonus-renal failure syndrome skos:exactMatch OMIM:254900 epilepsy, progressive myoclonic, 4, with or without renal failure semapv:UnspecifiedMatching MONDO:0009699 action myoclonus-renal failure syndrome skos:exactMatch Orphanet:163696 Action myoclonus-renal failure syndrome semapv:UnspecifiedMatching MONDO:0009699 action myoclonus-renal failure syndrome skos:exactMatch SCTID:764453009 semapv:UnspecifiedMatching MONDO:0009699 action myoclonus-renal failure syndrome skos:exactMatch UMLS:C0751779 semapv:UnspecifiedMatching MONDO:0009701 myopathy, granulovacuolar lobular, with electrical myotonia skos:exactMatch MEDGEN:338114 semapv:UnspecifiedMatching MONDO:0009701 myopathy, granulovacuolar lobular, with electrical myotonia skos:exactMatch OMIM:254950 myopathy, granulovacuolar lobular, with electrical myotonia semapv:UnspecifiedMatching MONDO:0009701 myopathy, granulovacuolar lobular, with electrical myotonia skos:exactMatch UMLS:C1850745 semapv:UnspecifiedMatching MONDO:0009701 myopathy, granulovacuolar lobular, with electrical myotonia skos:exactMatch mesh:C564974 semapv:UnspecifiedMatching MONDO:0009702 myopathy due to malate-aspartate shuttle defect skos:exactMatch MEDGEN:342579 semapv:UnspecifiedMatching MONDO:0009702 myopathy due to malate-aspartate shuttle defect skos:exactMatch OMIM:254960 myopathy due to malate-aspartate shuttle defect semapv:UnspecifiedMatching MONDO:0009702 myopathy due to malate-aspartate shuttle defect skos:exactMatch UMLS:C1850744 semapv:UnspecifiedMatching MONDO:0009702 myopathy due to malate-aspartate shuttle defect skos:exactMatch mesh:C564973 semapv:UnspecifiedMatching MONDO:0009703 myopathy with abnormal lipid metabolism skos:exactMatch MEDGEN:934789 semapv:UnspecifiedMatching MONDO:0009703 myopathy with abnormal lipid metabolism skos:exactMatch OMIM:255100 lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency semapv:UnspecifiedMatching MONDO:0009703 myopathy with abnormal lipid metabolism skos:exactMatch SCTID:240095001 semapv:UnspecifiedMatching MONDO:0009703 myopathy with abnormal lipid metabolism skos:exactMatch UMLS:C4310822 semapv:UnspecifiedMatching MONDO:0009703 myopathy with abnormal lipid metabolism skos:exactMatch mesh:C562935 semapv:UnspecifiedMatching MONDO:0009704 carnitine palmitoyl transferase II deficiency, myopathic form skos:exactMatch MEDGEN:371584 semapv:UnspecifiedMatching MONDO:0009704 carnitine palmitoyl transferase II deficiency, myopathic form skos:exactMatch OMIM:255110 carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced semapv:UnspecifiedMatching MONDO:0009704 carnitine palmitoyl transferase II deficiency, myopathic form skos:exactMatch Orphanet:228302 Carnitine palmitoyl transferase II deficiency, myopathic form semapv:UnspecifiedMatching MONDO:0009704 carnitine palmitoyl transferase II deficiency, myopathic form skos:exactMatch UMLS:C1833508 semapv:UnspecifiedMatching MONDO:0009704 carnitine palmitoyl transferase II deficiency, myopathic form skos:exactMatch mesh:C563461 semapv:UnspecifiedMatching MONDO:0009705 carnitine palmitoyl transferase 1A deficiency skos:exactMatch DOID:0090129 carnitine palmitoyltransferase I deficiency semapv:UnspecifiedMatching MONDO:0009705 carnitine palmitoyl transferase 1A deficiency skos:exactMatch MEDGEN:316820 semapv:UnspecifiedMatching MONDO:0009705 carnitine palmitoyl transferase 1A deficiency skos:exactMatch NCIT:C98871 Carnitine Palmitoyltransferase I Deficiency semapv:UnspecifiedMatching MONDO:0009705 carnitine palmitoyl transferase 1A deficiency skos:exactMatch OMIM:255120 carnitine palmitoyltransferase 1 deficiency semapv:UnspecifiedMatching MONDO:0009705 carnitine palmitoyl transferase 1A deficiency skos:exactMatch Orphanet:156 Carnitine palmitoyl transferase 1A deficiency semapv:UnspecifiedMatching MONDO:0009705 carnitine palmitoyl transferase 1A deficiency skos:exactMatch SCTID:238001003 semapv:UnspecifiedMatching MONDO:0009705 carnitine palmitoyl transferase 1A deficiency skos:exactMatch UMLS:C1829703 semapv:UnspecifiedMatching MONDO:0009705 carnitine palmitoyl transferase 1A deficiency skos:exactMatch mesh:C535588 semapv:UnspecifiedMatching MONDO:0009706 hereditary myopathy with lactic acidosis due to ISCU deficiency skos:exactMatch MEDGEN:342573 semapv:UnspecifiedMatching MONDO:0009706 hereditary myopathy with lactic acidosis due to ISCU deficiency skos:exactMatch OMIM:255125 myopathy with lactic acidosis, hereditary semapv:UnspecifiedMatching MONDO:0009706 hereditary myopathy with lactic acidosis due to ISCU deficiency skos:exactMatch Orphanet:43115 Hereditary myopathy with lactic acidosis due to ISCU deficiency semapv:UnspecifiedMatching MONDO:0009706 hereditary myopathy with lactic acidosis due to ISCU deficiency skos:exactMatch SCTID:699268002 semapv:UnspecifiedMatching MONDO:0009706 hereditary myopathy with lactic acidosis due to ISCU deficiency skos:exactMatch UMLS:C1850718 semapv:UnspecifiedMatching MONDO:0009706 hereditary myopathy with lactic acidosis due to ISCU deficiency skos:exactMatch mesh:C564972 semapv:UnspecifiedMatching MONDO:0009707 myopathy with giant abnormal mitochondria skos:exactMatch MEDGEN:376864 semapv:UnspecifiedMatching MONDO:0009707 myopathy with giant abnormal mitochondria skos:exactMatch OMIM:255140 myopathy with giant abnormal mitochondria semapv:UnspecifiedMatching MONDO:0009707 myopathy with giant abnormal mitochondria skos:exactMatch UMLS:C1850717 semapv:UnspecifiedMatching MONDO:0009707 myopathy with giant abnormal mitochondria skos:exactMatch mesh:C564971 semapv:UnspecifiedMatching MONDO:0009708 myopathy, myosin storage, autosomal recessive skos:exactMatch DOID:0111268 autosomal recessive hyaline body myopathy semapv:UnspecifiedMatching MONDO:0009708 myopathy, myosin storage, autosomal recessive skos:exactMatch MEDGEN:340603 semapv:UnspecifiedMatching MONDO:0009708 myopathy, myosin storage, autosomal recessive skos:exactMatch OMIM:255160 congenital myopathy 7b, myosin storage, autosomal recessive semapv:UnspecifiedMatching MONDO:0009708 myopathy, myosin storage, autosomal recessive skos:exactMatch Orphanet:636970 Autosomal recessive myosin storage myopathy semapv:UnspecifiedMatching MONDO:0009708 myopathy, myosin storage, autosomal recessive skos:exactMatch UMLS:C1850709 semapv:UnspecifiedMatching MONDO:0009708 myopathy, myosin storage, autosomal recessive skos:exactMatch mesh:C564970 semapv:UnspecifiedMatching MONDO:0009709 myopathy, centronuclear, 2 skos:exactMatch DOID:0111220 centronuclear myopathy 2 semapv:UnspecifiedMatching MONDO:0009709 myopathy, centronuclear, 2 skos:exactMatch MEDGEN:98049 semapv:UnspecifiedMatching MONDO:0009709 myopathy, centronuclear, 2 skos:exactMatch OMIM:255200 myopathy, centronuclear, 2 semapv:UnspecifiedMatching MONDO:0009709 myopathy, centronuclear, 2 skos:exactMatch UMLS:C0410204 semapv:UnspecifiedMatching MONDO:0009709 myopathy, centronuclear, 2 skos:exactMatch mesh:C562934 semapv:UnspecifiedMatching MONDO:0009710 Thomsen and Becker disease skos:exactMatch DOID:2106 myotonia congenita semapv:UnspecifiedMatching MONDO:0009710 Thomsen and Becker disease skos:exactMatch ICD10CM:G71.12 Myotonia congenita semapv:UnspecifiedMatching MONDO:0009710 Thomsen and Becker disease skos:exactMatch NCIT:C84912 Myotonia Congenita semapv:UnspecifiedMatching MONDO:0009710 Thomsen and Becker disease skos:exactMatch Orphanet:614 Thomsen and Becker disease semapv:UnspecifiedMatching MONDO:0009710 Thomsen and Becker disease skos:exactMatch SCTID:726051002 semapv:UnspecifiedMatching MONDO:0009710 Thomsen and Becker disease skos:exactMatch mesh:D009224 semapv:UnspecifiedMatching MONDO:0009711 congenital fiber-type disproportion myopathy skos:exactMatch DOID:0080102 congenital myopathy 4A semapv:UnspecifiedMatching MONDO:0009711 congenital fiber-type disproportion myopathy skos:exactMatch MEDGEN:108177 semapv:UnspecifiedMatching MONDO:0009711 congenital fiber-type disproportion myopathy skos:exactMatch NCIT:C120046 Congenital Fiber-Type Disproportion semapv:UnspecifiedMatching MONDO:0009711 congenital fiber-type disproportion myopathy skos:exactMatch Orphanet:2020 Congenital fiber-type disproportion myopathy semapv:UnspecifiedMatching MONDO:0009711 congenital fiber-type disproportion myopathy skos:exactMatch UMLS:C0546264 semapv:UnspecifiedMatching MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia skos:exactMatch MEDGEN:340597 semapv:UnspecifiedMatching MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia skos:exactMatch NCIT:C150608 Minicore Myopathy with External Ophthalmoplegia semapv:UnspecifiedMatching MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia skos:exactMatch OMIM:255320 congenital myopathy 1b, autosomal recessive semapv:UnspecifiedMatching MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia skos:exactMatch Orphanet:98905 Congenital multicore myopathy with external ophthalmoplegia semapv:UnspecifiedMatching MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia skos:exactMatch UMLS:C1850674 semapv:UnspecifiedMatching MONDO:0009713 myopia 18, autosomal recessive skos:exactMatch MEDGEN:411856 semapv:UnspecifiedMatching MONDO:0009713 myopia 18, autosomal recessive skos:exactMatch OMIM:255500 myopia 18, autosomal recessive semapv:UnspecifiedMatching MONDO:0009713 myopia 18, autosomal recessive skos:exactMatch UMLS:C2749509 semapv:UnspecifiedMatching MONDO:0009713 myopia 18, autosomal recessive skos:exactMatch mesh:C567606 semapv:UnspecifiedMatching MONDO:0009714 myosclerosis skos:exactMatch MEDGEN:338098 semapv:UnspecifiedMatching MONDO:0009714 myosclerosis skos:exactMatch OMIM:255600 myosclerosis, autosomal recessive semapv:UnspecifiedMatching MONDO:0009714 myosclerosis skos:exactMatch Orphanet:289380 Myosclerosis semapv:UnspecifiedMatching MONDO:0009714 myosclerosis skos:exactMatch SCTID:763895001 semapv:UnspecifiedMatching MONDO:0009714 myosclerosis skos:exactMatch UMLS:C1850671 semapv:UnspecifiedMatching MONDO:0009714 myosclerosis skos:exactMatch icd11.foundation:2105106550 Myosclerosis semapv:UnspecifiedMatching MONDO:0009714 myosclerosis skos:exactMatch mesh:C564968 semapv:UnspecifiedMatching MONDO:0009715 myotonia congenita, autosomal recessive skos:exactMatch MEDGEN:155852 semapv:UnspecifiedMatching MONDO:0009715 myotonia congenita, autosomal recessive skos:exactMatch OMIM:255700 myotonia congenita, autosomal recessive semapv:UnspecifiedMatching MONDO:0009715 myotonia congenita, autosomal recessive skos:exactMatch UMLS:C0751360 semapv:UnspecifiedMatching MONDO:0009716 Richieri Costa-da Silva syndrome skos:exactMatch MEDGEN:419686 semapv:UnspecifiedMatching MONDO:0009716 Richieri Costa-da Silva syndrome skos:exactMatch OMIM:255710 myotonia with skeletal abnormalities and impaired intellectual development semapv:UnspecifiedMatching MONDO:0009716 Richieri Costa-da Silva syndrome skos:exactMatch Orphanet:3101 Richieri Costa-da Silva syndrome semapv:UnspecifiedMatching MONDO:0009716 Richieri Costa-da Silva syndrome skos:exactMatch UMLS:C2930978 semapv:UnspecifiedMatching MONDO:0009716 Richieri Costa-da Silva syndrome skos:exactMatch mesh:C535675 semapv:UnspecifiedMatching MONDO:0009717 Schwartz-Jampel syndrome skos:exactMatch ICD10CM:G71.13 Myotonic chondrodystrophy semapv:UnspecifiedMatching MONDO:0009717 Schwartz-Jampel syndrome skos:exactMatch MEDGEN:19892 semapv:UnspecifiedMatching MONDO:0009717 Schwartz-Jampel syndrome skos:exactMatch NCIT:C35008 Schwartz-Jampel Syndrome semapv:UnspecifiedMatching MONDO:0009717 Schwartz-Jampel syndrome skos:exactMatch Orphanet:800 Schwartz-Jampel syndrome semapv:UnspecifiedMatching MONDO:0009717 Schwartz-Jampel syndrome skos:exactMatch SCTID:29145002 semapv:UnspecifiedMatching MONDO:0009717 Schwartz-Jampel syndrome skos:exactMatch UMLS:C0036391 semapv:UnspecifiedMatching MONDO:0009717 Schwartz-Jampel syndrome skos:exactMatch icd11.foundation:1725668060 Chondrodystrophic myotonia semapv:UnspecifiedMatching MONDO:0009718 myxedema skos:exactMatch DOID:11634 myxedema semapv:UnspecifiedMatching MONDO:0009718 myxedema skos:exactMatch EFO:1001055 semapv:UnspecifiedMatching MONDO:0009718 myxedema skos:exactMatch MEDGEN:6506 semapv:UnspecifiedMatching MONDO:0009718 myxedema skos:exactMatch NCIT:C34834 Myxedema semapv:UnspecifiedMatching MONDO:0009718 myxedema skos:exactMatch OMIM:255900 myxedema semapv:UnspecifiedMatching MONDO:0009718 myxedema skos:exactMatch SCTID:43153006 semapv:UnspecifiedMatching MONDO:0009718 myxedema skos:exactMatch UMLS:C0027145 semapv:UnspecifiedMatching MONDO:0009718 myxedema skos:exactMatch mesh:D009230 semapv:UnspecifiedMatching MONDO:0009719 familial atrial myxoma skos:exactMatch MEDGEN:419902 semapv:UnspecifiedMatching MONDO:0009719 familial atrial myxoma skos:exactMatch OMIM:255960 myxoma, intracardiac semapv:UnspecifiedMatching MONDO:0009719 familial atrial myxoma skos:exactMatch Orphanet:615 Familial atrial myxoma semapv:UnspecifiedMatching MONDO:0009719 familial atrial myxoma skos:exactMatch SCTID:233855002 semapv:UnspecifiedMatching MONDO:0009719 familial atrial myxoma skos:exactMatch UMLS:C2931787 semapv:UnspecifiedMatching MONDO:0009719 familial atrial myxoma skos:exactMatch icd11.foundation:1491085859 Familial atrial myxoma semapv:UnspecifiedMatching MONDO:0009719 familial atrial myxoma skos:exactMatch mesh:C538262 semapv:UnspecifiedMatching MONDO:0009720 Keipert syndrome skos:exactMatch DOID:0111842 Keipert syndrome semapv:UnspecifiedMatching MONDO:0009720 Keipert syndrome skos:exactMatch MEDGEN:338088 semapv:UnspecifiedMatching MONDO:0009720 Keipert syndrome skos:exactMatch NCIT:C186306 Keipert Syndrome semapv:UnspecifiedMatching MONDO:0009720 Keipert syndrome skos:exactMatch OMIM:301026 keipert syndrome semapv:UnspecifiedMatching MONDO:0009720 Keipert syndrome skos:exactMatch Orphanet:2662 Keipert syndrome semapv:UnspecifiedMatching MONDO:0009720 Keipert syndrome skos:exactMatch SCTID:763774001 semapv:UnspecifiedMatching MONDO:0009720 Keipert syndrome skos:exactMatch UMLS:C1850627 semapv:UnspecifiedMatching MONDO:0009720 Keipert syndrome skos:exactMatch mesh:C538337 semapv:UnspecifiedMatching MONDO:0009721 Nathalie syndrome skos:exactMatch MEDGEN:338087 semapv:UnspecifiedMatching MONDO:0009721 Nathalie syndrome skos:exactMatch OMIM:255990 nathalie syndrome semapv:UnspecifiedMatching MONDO:0009721 Nathalie syndrome skos:exactMatch Orphanet:2663 Nathalie syndrome semapv:UnspecifiedMatching MONDO:0009721 Nathalie syndrome skos:exactMatch SCTID:716170005 semapv:UnspecifiedMatching MONDO:0009721 Nathalie syndrome skos:exactMatch UMLS:C1850626 semapv:UnspecifiedMatching MONDO:0009721 Nathalie syndrome skos:exactMatch mesh:C538342 semapv:UnspecifiedMatching MONDO:0009722 Bailey-Bloch congenital myopathy skos:exactMatch DOID:0060346 congenital myopathy 13 semapv:UnspecifiedMatching MONDO:0009722 Bailey-Bloch congenital myopathy skos:exactMatch MEDGEN:340586 semapv:UnspecifiedMatching MONDO:0009722 Bailey-Bloch congenital myopathy skos:exactMatch OMIM:255995 congenital myopathy 13 semapv:UnspecifiedMatching MONDO:0009722 Bailey-Bloch congenital myopathy skos:exactMatch Orphanet:168572 Native American myopathy semapv:UnspecifiedMatching MONDO:0009722 Bailey-Bloch congenital myopathy skos:exactMatch SCTID:723439002 semapv:UnspecifiedMatching MONDO:0009722 Bailey-Bloch congenital myopathy skos:exactMatch UMLS:C1850625 semapv:UnspecifiedMatching MONDO:0009722 Bailey-Bloch congenital myopathy skos:exactMatch mesh:C538343 semapv:UnspecifiedMatching MONDO:0009723 Leigh syndrome skos:exactMatch DOID:3652 Leigh disease semapv:UnspecifiedMatching MONDO:0009723 Leigh syndrome skos:exactMatch ICD10CM:G31.82 Leigh's disease semapv:UnspecifiedMatching MONDO:0009723 Leigh syndrome skos:exactMatch MEDGEN:419518 semapv:UnspecifiedMatching MONDO:0009723 Leigh syndrome skos:exactMatch NCIT:C84814 Leigh Disease semapv:UnspecifiedMatching MONDO:0009723 Leigh syndrome skos:exactMatch OMIM:256000 leigh syndrome, nuclear semapv:UnspecifiedMatching MONDO:0009723 Leigh syndrome skos:exactMatch Orphanet:506 Leigh syndrome semapv:UnspecifiedMatching MONDO:0009723 Leigh syndrome skos:exactMatch SCTID:29570005 semapv:UnspecifiedMatching MONDO:0009723 Leigh syndrome skos:exactMatch UMLS:C2931891 semapv:UnspecifiedMatching MONDO:0009723 Leigh syndrome skos:exactMatch icd11.foundation:672871576 Leigh syndrome semapv:UnspecifiedMatching MONDO:0009723 Leigh syndrome skos:exactMatch mesh:D007888 semapv:UnspecifiedMatching MONDO:0009724 nail-patella-like renal disease skos:exactMatch MEDGEN:140789 semapv:UnspecifiedMatching MONDO:0009724 nail-patella-like renal disease skos:exactMatch OMIM:256020 focal segmental glomerulosclerosis 10 semapv:UnspecifiedMatching MONDO:0009724 nail-patella-like renal disease skos:exactMatch Orphanet:2613 Nail-patella-like renal disease semapv:UnspecifiedMatching MONDO:0009724 nail-patella-like renal disease skos:exactMatch SCTID:236527004 semapv:UnspecifiedMatching MONDO:0009724 nail-patella-like renal disease skos:exactMatch UMLS:C0403548 semapv:UnspecifiedMatching MONDO:0009724 nail-patella-like renal disease skos:exactMatch mesh:C537228 semapv:UnspecifiedMatching MONDO:0009725 nemaline myopathy 2 skos:exactMatch DOID:0110928 nemaline myopathy 2 semapv:UnspecifiedMatching MONDO:0009725 nemaline myopathy 2 skos:exactMatch MEDGEN:342534 semapv:UnspecifiedMatching MONDO:0009725 nemaline myopathy 2 skos:exactMatch NCIT:C118784 Nemaline Myopathy 2 semapv:UnspecifiedMatching MONDO:0009725 nemaline myopathy 2 skos:exactMatch OMIM:256030 nemaline myopathy 2 semapv:UnspecifiedMatching MONDO:0009725 nemaline myopathy 2 skos:exactMatch UMLS:C1850569 semapv:UnspecifiedMatching MONDO:0009725 nemaline myopathy 2 skos:exactMatch mesh:C538349 semapv:UnspecifiedMatching MONDO:0009726 proteosome-associated autoinflammatory syndrome skos:exactMatch DOID:0050553 proteasome-associated autoinflammatory syndrome 1 semapv:UnspecifiedMatching MONDO:0009726 proteosome-associated autoinflammatory syndrome skos:exactMatch DOID:0060913 proteosome-associated autoinflammatory syndrome semapv:UnspecifiedMatching MONDO:0009726 proteosome-associated autoinflammatory syndrome skos:exactMatch MEDGEN:376827 semapv:UnspecifiedMatching MONDO:0009726 proteosome-associated autoinflammatory syndrome skos:exactMatch OMIMPS:256040 Proteosome-associated autoinflammatory syndrome semapv:UnspecifiedMatching MONDO:0009726 proteosome-associated autoinflammatory syndrome skos:exactMatch Orphanet:324977 Proteasome-associated autoinflammatory syndrome semapv:UnspecifiedMatching MONDO:0009726 proteosome-associated autoinflammatory syndrome skos:exactMatch SCTID:702449004 semapv:UnspecifiedMatching MONDO:0009726 proteosome-associated autoinflammatory syndrome skos:exactMatch UMLS:C1850568 semapv:UnspecifiedMatching MONDO:0009726 proteosome-associated autoinflammatory syndrome skos:exactMatch mesh:C538334 semapv:UnspecifiedMatching MONDO:0009727 atelosteogenesis type II skos:exactMatch MEDGEN:338072 semapv:UnspecifiedMatching MONDO:0009727 atelosteogenesis type II skos:exactMatch OMIM:256050 atelosteogenesis, type 2 semapv:UnspecifiedMatching MONDO:0009727 atelosteogenesis type II skos:exactMatch Orphanet:56304 Atelosteogenesis type II semapv:UnspecifiedMatching MONDO:0009727 atelosteogenesis type II skos:exactMatch SCTID:254055004 semapv:UnspecifiedMatching MONDO:0009727 atelosteogenesis type II skos:exactMatch UMLS:C1850554 semapv:UnspecifiedMatching MONDO:0009727 atelosteogenesis type II skos:exactMatch mesh:C535395 semapv:UnspecifiedMatching MONDO:0009728 nephronophthisis 1 skos:exactMatch DOID:0111112 nephronophthisis 1 semapv:UnspecifiedMatching MONDO:0009728 nephronophthisis 1 skos:exactMatch MEDGEN:343406 semapv:UnspecifiedMatching MONDO:0009728 nephronophthisis 1 skos:exactMatch NCIT:C74998 Nephronophthisis 1 semapv:UnspecifiedMatching MONDO:0009728 nephronophthisis 1 skos:exactMatch OMIM:256100 nephronophthisis 1 semapv:UnspecifiedMatching MONDO:0009728 nephronophthisis 1 skos:exactMatch Orphanet:93592 Juvenile nephronophthisis semapv:UnspecifiedMatching MONDO:0009728 nephronophthisis 1 skos:exactMatch SCTID:444830001 semapv:UnspecifiedMatching MONDO:0009728 nephronophthisis 1 skos:exactMatch UMLS:C1855681 semapv:UnspecifiedMatching MONDO:0009728 nephronophthisis 1 skos:exactMatch mesh:C537699 semapv:UnspecifiedMatching MONDO:0009729 nephropathy - deafness - hyperparathyroidism syndrome skos:exactMatch MEDGEN:340569 semapv:UnspecifiedMatching MONDO:0009729 nephropathy - deafness - hyperparathyroidism syndrome skos:exactMatch OMIM:256120 nephropathy, deafness, and hyperparathyroidism semapv:UnspecifiedMatching MONDO:0009729 nephropathy - deafness - hyperparathyroidism syndrome skos:exactMatch Orphanet:2668 Nephropathy-deafness-hyperparathyroidism syndrome semapv:UnspecifiedMatching MONDO:0009729 nephropathy - deafness - hyperparathyroidism syndrome skos:exactMatch SCTID:724093004 semapv:UnspecifiedMatching MONDO:0009729 nephropathy - deafness - hyperparathyroidism syndrome skos:exactMatch UMLS:C1850553 semapv:UnspecifiedMatching MONDO:0009729 nephropathy - deafness - hyperparathyroidism syndrome skos:exactMatch mesh:C536401 semapv:UnspecifiedMatching MONDO:0009731 nephrosis-deafness-urinary tract-digital malformations syndrome skos:exactMatch MEDGEN:340568 semapv:UnspecifiedMatching MONDO:0009731 nephrosis-deafness-urinary tract-digital malformations syndrome skos:exactMatch OMIM:256200 nephrosis with deafness and urinary tract and digital malformations semapv:UnspecifiedMatching MONDO:0009731 nephrosis-deafness-urinary tract-digital malformations syndrome skos:exactMatch Orphanet:2669 Nephrosis-deafness-urinary tract-digital malformations syndrome semapv:UnspecifiedMatching MONDO:0009731 nephrosis-deafness-urinary tract-digital malformations syndrome skos:exactMatch UMLS:C1850552 semapv:UnspecifiedMatching MONDO:0009731 nephrosis-deafness-urinary tract-digital malformations syndrome skos:exactMatch mesh:C536402 semapv:UnspecifiedMatching MONDO:0009732 congenital nephrotic syndrome, Finnish type skos:exactMatch DOID:0080390 nephrotic syndrome type 1 semapv:UnspecifiedMatching MONDO:0009732 congenital nephrotic syndrome, Finnish type skos:exactMatch MEDGEN:98011 semapv:UnspecifiedMatching MONDO:0009732 congenital nephrotic syndrome, Finnish type skos:exactMatch NCIT:C122795 Nephrotic Syndrome - NPHS1 Associated semapv:UnspecifiedMatching MONDO:0009732 congenital nephrotic syndrome, Finnish type skos:exactMatch OMIM:256300 nephrotic syndrome, type 1 semapv:UnspecifiedMatching MONDO:0009732 congenital nephrotic syndrome, Finnish type skos:exactMatch Orphanet:839 Congenital nephrotic syndrome, Finnish type semapv:UnspecifiedMatching MONDO:0009732 congenital nephrotic syndrome, Finnish type skos:exactMatch SCTID:197601003 semapv:UnspecifiedMatching MONDO:0009732 congenital nephrotic syndrome, Finnish type skos:exactMatch UMLS:C0403399 semapv:UnspecifiedMatching MONDO:0009733 nephrotic syndrome, type 4 skos:exactMatch DOID:0080383 nephrotic syndrome type 4 semapv:UnspecifiedMatching MONDO:0009733 nephrotic syndrome, type 4 skos:exactMatch MEDGEN:462918 semapv:UnspecifiedMatching MONDO:0009733 nephrotic syndrome, type 4 skos:exactMatch NCIT:C121198 Congenital Nephrotic Syndrome - Diffuse Mesangial Sclerosis semapv:UnspecifiedMatching MONDO:0009733 nephrotic syndrome, type 4 skos:exactMatch OMIM:256370 nephrotic syndrome, type 4 semapv:UnspecifiedMatching MONDO:0009733 nephrotic syndrome, type 4 skos:exactMatch UMLS:C3151568 semapv:UnspecifiedMatching MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 skos:exactMatch DOID:0070219 familial hyperinsulinemic hypoglycemia 1 semapv:UnspecifiedMatching MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 skos:exactMatch MEDGEN:419505 semapv:UnspecifiedMatching MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 skos:exactMatch OMIM:256450 hyperinsulinemic hypoglycemia, familial, 1 semapv:UnspecifiedMatching MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 skos:exactMatch SCTID:360339005 semapv:UnspecifiedMatching MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 skos:exactMatch UMLS:C2931832 semapv:UnspecifiedMatching MONDO:0009735 Netherton syndrome skos:exactMatch DOID:0050474 Netherton syndrome semapv:UnspecifiedMatching MONDO:0009735 Netherton syndrome skos:exactMatch MEDGEN:1802991 semapv:UnspecifiedMatching MONDO:0009735 Netherton syndrome skos:exactMatch NCIT:C84922 Netherton Syndrome semapv:UnspecifiedMatching MONDO:0009735 Netherton syndrome skos:exactMatch OMIM:256500 netherton syndrome semapv:UnspecifiedMatching MONDO:0009735 Netherton syndrome skos:exactMatch Orphanet:634 Netherton syndrome semapv:UnspecifiedMatching MONDO:0009735 Netherton syndrome skos:exactMatch SCTID:312514006 semapv:UnspecifiedMatching MONDO:0009735 Netherton syndrome skos:exactMatch UMLS:C5574950 semapv:UnspecifiedMatching MONDO:0009735 Netherton syndrome skos:exactMatch icd11.foundation:1797493665 Netherton syndrome semapv:UnspecifiedMatching MONDO:0009735 Netherton syndrome skos:exactMatch mesh:D056770 semapv:UnspecifiedMatching MONDO:0009736 Neu-Laxova syndrome 1 skos:exactMatch DOID:0080076 Neu-Laxova syndrome 1 semapv:UnspecifiedMatching MONDO:0009736 Neu-Laxova syndrome 1 skos:exactMatch MEDGEN:1633287 semapv:UnspecifiedMatching MONDO:0009736 Neu-Laxova syndrome 1 skos:exactMatch OMIM:256520 neu-laxova syndrome 1 semapv:UnspecifiedMatching MONDO:0009736 Neu-Laxova syndrome 1 skos:exactMatch Orphanet:583607 Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0009736 Neu-Laxova syndrome 1 skos:exactMatch UMLS:C4551478 semapv:UnspecifiedMatching MONDO:0009737 galactosialidosis skos:exactMatch DOID:0080540 galactosialidosis semapv:UnspecifiedMatching MONDO:0009737 galactosialidosis skos:exactMatch MEDGEN:82779 semapv:UnspecifiedMatching MONDO:0009737 galactosialidosis skos:exactMatch NCIT:C129928 Galactosialidosis semapv:UnspecifiedMatching MONDO:0009737 galactosialidosis skos:exactMatch OMIM:256540 galactosialidosis semapv:UnspecifiedMatching MONDO:0009737 galactosialidosis skos:exactMatch Orphanet:351 Galactosialidosis semapv:UnspecifiedMatching MONDO:0009737 galactosialidosis skos:exactMatch SCTID:35691006 semapv:UnspecifiedMatching MONDO:0009737 galactosialidosis skos:exactMatch UMLS:C0268233 semapv:UnspecifiedMatching MONDO:0009737 galactosialidosis skos:exactMatch icd11.foundation:1838660035 Galactosialidosis semapv:UnspecifiedMatching MONDO:0009737 galactosialidosis skos:exactMatch mesh:C536411 semapv:UnspecifiedMatching MONDO:0009738 sialidosis type 2 skos:exactMatch DOID:3343 glycoproteinosis semapv:UnspecifiedMatching MONDO:0009738 sialidosis type 2 skos:exactMatch MEDGEN:924303 semapv:UnspecifiedMatching MONDO:0009738 sialidosis type 2 skos:exactMatch NCIT:C125596 Neuraminidase Deficiency semapv:UnspecifiedMatching MONDO:0009738 sialidosis type 2 skos:exactMatch OMIM:256150 nephrosialidosis semapv:UnspecifiedMatching MONDO:0009738 sialidosis type 2 skos:exactMatch OMIM:256550 neuraminidase deficiency semapv:UnspecifiedMatching MONDO:0009738 sialidosis type 2 skos:exactMatch Orphanet:87876 Sialidosis type 2 semapv:UnspecifiedMatching MONDO:0009738 sialidosis type 2 skos:exactMatch SCTID:52186006 semapv:UnspecifiedMatching MONDO:0009738 sialidosis type 2 skos:exactMatch SCTID:81896006 semapv:UnspecifiedMatching MONDO:0009738 sialidosis type 2 skos:exactMatch UMLS:C4282398 semapv:UnspecifiedMatching MONDO:0009738 sialidosis type 2 skos:exactMatch icd11.foundation:1855856697 Sialidosis type 2 semapv:UnspecifiedMatching MONDO:0009738 sialidosis type 2 skos:exactMatch mesh:C562606 semapv:UnspecifiedMatching MONDO:0009740 neurofaciodigitorenal syndrome skos:exactMatch MEDGEN:163212 semapv:UnspecifiedMatching MONDO:0009740 neurofaciodigitorenal syndrome skos:exactMatch OMIM:256690 neurofaciodigitorenal syndrome semapv:UnspecifiedMatching MONDO:0009740 neurofaciodigitorenal syndrome skos:exactMatch Orphanet:2673 Neurofaciodigitorenal syndrome semapv:UnspecifiedMatching MONDO:0009740 neurofaciodigitorenal syndrome skos:exactMatch SCTID:725908007 semapv:UnspecifiedMatching MONDO:0009740 neurofaciodigitorenal syndrome skos:exactMatch UMLS:C0796088 semapv:UnspecifiedMatching MONDO:0009740 neurofaciodigitorenal syndrome skos:exactMatch mesh:C537388 semapv:UnspecifiedMatching MONDO:0009741 neuroblastoma, susceptibility to, 1 skos:exactMatch MEDGEN:412713 semapv:UnspecifiedMatching MONDO:0009741 neuroblastoma, susceptibility to, 1 skos:exactMatch OMIM:256700 neuroblastoma, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0009741 neuroblastoma, susceptibility to, 1 skos:exactMatch UMLS:C2749485 semapv:UnspecifiedMatching MONDO:0009742 neuroectodermal melanolysosomal disease skos:exactMatch MEDGEN:348553 semapv:UnspecifiedMatching MONDO:0009742 neuroectodermal melanolysosomal disease skos:exactMatch OMIM:256710 elejalde neuroectodermal melanolysosomal syndrome semapv:UnspecifiedMatching MONDO:0009742 neuroectodermal melanolysosomal disease skos:exactMatch Orphanet:33445 Neuroectodermal melanolysosomal disease semapv:UnspecifiedMatching MONDO:0009742 neuroectodermal melanolysosomal disease skos:exactMatch SCTID:724091002 semapv:UnspecifiedMatching MONDO:0009742 neuroectodermal melanolysosomal disease skos:exactMatch UMLS:C1860157 semapv:UnspecifiedMatching MONDO:0009742 neuroectodermal melanolysosomal disease skos:exactMatch icd11.foundation:771734461 Neuroectodermal melanolysosomal disease semapv:UnspecifiedMatching MONDO:0009742 neuroectodermal melanolysosomal disease skos:exactMatch mesh:C536203 semapv:UnspecifiedMatching MONDO:0009743 neurologic disease, infantile multisystem, with osseous fragility skos:exactMatch MEDGEN:338057 semapv:UnspecifiedMatching MONDO:0009743 neurologic disease, infantile multisystem, with osseous fragility skos:exactMatch OMIM:256720 neurologic disease, infantile multisystem, with osseous fragility semapv:UnspecifiedMatching MONDO:0009743 neurologic disease, infantile multisystem, with osseous fragility skos:exactMatch UMLS:C1850465 semapv:UnspecifiedMatching MONDO:0009743 neurologic disease, infantile multisystem, with osseous fragility skos:exactMatch mesh:C564954 semapv:UnspecifiedMatching MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:exactMatch DOID:0110721 neuronal ceroid lipofuscinosis 1 semapv:UnspecifiedMatching MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:exactMatch MEDGEN:340540 semapv:UnspecifiedMatching MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:exactMatch NCIT:C85861 Neuronal Ceroid Lipofuscinosis Type 1 semapv:UnspecifiedMatching MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:exactMatch OMIM:256730 ceroid lipofuscinosis, neuronal, 1 semapv:UnspecifiedMatching MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:exactMatch Orphanet:228329 CLN1 disease semapv:UnspecifiedMatching MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:exactMatch SCTID:720830009 semapv:UnspecifiedMatching MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:exactMatch UMLS:C1850451 semapv:UnspecifiedMatching MONDO:0009745 neuronal ceroid lipofuscinosis 5 skos:exactMatch DOID:0110728 neuronal ceroid lipofuscinosis 5 semapv:UnspecifiedMatching MONDO:0009745 neuronal ceroid lipofuscinosis 5 skos:exactMatch MEDGEN:376792 semapv:UnspecifiedMatching MONDO:0009745 neuronal ceroid lipofuscinosis 5 skos:exactMatch OMIM:256731 ceroid lipofuscinosis, neuronal, 5 semapv:UnspecifiedMatching MONDO:0009745 neuronal ceroid lipofuscinosis 5 skos:exactMatch Orphanet:228360 CLN5 disease semapv:UnspecifiedMatching MONDO:0009745 neuronal ceroid lipofuscinosis 5 skos:exactMatch UMLS:C1850442 semapv:UnspecifiedMatching MONDO:0009745 neuronal ceroid lipofuscinosis 5 skos:exactMatch mesh:C575534 semapv:UnspecifiedMatching MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 skos:exactMatch DOID:0070146 hereditary sensory neuropathy type 4 semapv:UnspecifiedMatching MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 skos:exactMatch MEDGEN:6915 semapv:UnspecifiedMatching MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 skos:exactMatch NCIT:C118633 Neuropathy, Hereditary Sensory and Autonomic, Type IV semapv:UnspecifiedMatching MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 skos:exactMatch OMIM:256800 insensitivity to pain, congenital, with anhidrosis semapv:UnspecifiedMatching MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 skos:exactMatch Orphanet:642 Hereditary sensory and autonomic neuropathy type 4 semapv:UnspecifiedMatching MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 skos:exactMatch SCTID:62985007 semapv:UnspecifiedMatching MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 skos:exactMatch UMLS:C0020074 semapv:UnspecifiedMatching MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 skos:exactMatch icd11.foundation:1831234152 Hereditary sensory and autonomic neuropathy type IV semapv:UnspecifiedMatching MONDO:0009747 mitochondrial DNA depletion syndrome 6 (hepatocerebral type) skos:exactMatch DOID:0080125 mitochondrial DNA depletion syndrome 6 semapv:UnspecifiedMatching MONDO:0009747 mitochondrial DNA depletion syndrome 6 (hepatocerebral type) skos:exactMatch MEDGEN:338045 semapv:UnspecifiedMatching MONDO:0009747 mitochondrial DNA depletion syndrome 6 (hepatocerebral type) skos:exactMatch OMIM:256810 mitochondrial DNA depletion syndrome 6 (hepatocerebral type) semapv:UnspecifiedMatching MONDO:0009747 mitochondrial DNA depletion syndrome 6 (hepatocerebral type) skos:exactMatch Orphanet:255229 Navajo neurohepatopathy semapv:UnspecifiedMatching MONDO:0009747 mitochondrial DNA depletion syndrome 6 (hepatocerebral type) skos:exactMatch UMLS:C1850406 semapv:UnspecifiedMatching MONDO:0009747 mitochondrial DNA depletion syndrome 6 (hepatocerebral type) skos:exactMatch mesh:C538344 semapv:UnspecifiedMatching MONDO:0009748 hereditary sensory and autonomic neuropathy with spastic paraplegia skos:exactMatch DOID:0061188 autosomal recessive sensory neuropathy with spastic paraplegia semapv:UnspecifiedMatching MONDO:0009748 hereditary sensory and autonomic neuropathy with spastic paraplegia skos:exactMatch MEDGEN:342492 semapv:UnspecifiedMatching MONDO:0009748 hereditary sensory and autonomic neuropathy with spastic paraplegia skos:exactMatch OMIM:256840 neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive semapv:UnspecifiedMatching MONDO:0009748 hereditary sensory and autonomic neuropathy with spastic paraplegia skos:exactMatch Orphanet:139578 Mutilating hereditary sensory neuropathy with spastic paraplegia semapv:UnspecifiedMatching MONDO:0009748 hereditary sensory and autonomic neuropathy with spastic paraplegia skos:exactMatch SCTID:717827000 semapv:UnspecifiedMatching MONDO:0009748 hereditary sensory and autonomic neuropathy with spastic paraplegia skos:exactMatch UMLS:C1850395 semapv:UnspecifiedMatching MONDO:0009748 hereditary sensory and autonomic neuropathy with spastic paraplegia skos:exactMatch icd11.foundation:813709854 Hereditary sensory and autonomic neuropathy with spastic paraplegia semapv:UnspecifiedMatching MONDO:0009748 hereditary sensory and autonomic neuropathy with spastic paraplegia skos:exactMatch mesh:C564948 semapv:UnspecifiedMatching MONDO:0009749 giant axonal neuropathy 1 skos:exactMatch DOID:0090068 giant axonal neuropathy 1 semapv:UnspecifiedMatching MONDO:0009749 giant axonal neuropathy 1 skos:exactMatch MEDGEN:376775 semapv:UnspecifiedMatching MONDO:0009749 giant axonal neuropathy 1 skos:exactMatch OMIM:256850 giant axonal neuropathy 1, autosomal recessive semapv:UnspecifiedMatching MONDO:0009749 giant axonal neuropathy 1 skos:exactMatch Orphanet:643 Giant axonal neuropathy semapv:UnspecifiedMatching MONDO:0009749 giant axonal neuropathy 1 skos:exactMatch UMLS:C1850386 semapv:UnspecifiedMatching MONDO:0009750 neuropathy, hereditary motor and sensory, with excessive myelin folding complex, autosomal recessive skos:exactMatch MEDGEN:342491 semapv:UnspecifiedMatching MONDO:0009750 neuropathy, hereditary motor and sensory, with excessive myelin folding complex, autosomal recessive skos:exactMatch OMIM:256855 neuropathy, hereditary motor and sensory, with excessive myelin folding complex, autosomal recessive semapv:UnspecifiedMatching MONDO:0009750 neuropathy, hereditary motor and sensory, with excessive myelin folding complex, autosomal recessive skos:exactMatch UMLS:C1850385 semapv:UnspecifiedMatching MONDO:0009750 neuropathy, hereditary motor and sensory, with excessive myelin folding complex, autosomal recessive skos:exactMatch mesh:C564947 semapv:UnspecifiedMatching MONDO:0009751 neuropathy, hereditary sensory, atypical skos:exactMatch DOID:0070160 atypical hereditary sensory neuropathy semapv:UnspecifiedMatching MONDO:0009751 neuropathy, hereditary sensory, atypical skos:exactMatch MEDGEN:376774 semapv:UnspecifiedMatching MONDO:0009751 neuropathy, hereditary sensory, atypical skos:exactMatch OMIM:256860 neuropathy, hereditary sensory, atypical semapv:UnspecifiedMatching MONDO:0009751 neuropathy, hereditary sensory, atypical skos:exactMatch UMLS:C1850384 semapv:UnspecifiedMatching MONDO:0009751 neuropathy, hereditary sensory, atypical skos:exactMatch mesh:C564946 semapv:UnspecifiedMatching MONDO:0009752 neuropathy, painful skos:exactMatch MEDGEN:342490 semapv:UnspecifiedMatching MONDO:0009752 neuropathy, painful skos:exactMatch OMIM:256870 neuropathy, painful semapv:UnspecifiedMatching MONDO:0009752 neuropathy, painful skos:exactMatch UMLS:C1850383 semapv:UnspecifiedMatching MONDO:0009752 neuropathy, painful skos:exactMatch mesh:C564945 semapv:UnspecifiedMatching MONDO:0009753 obsolete neurovisceral storage disease with Curvilinear bodies skos:exactMatch OMIM:257000 neurovisceral storage disease with curvilinear bodies semapv:UnspecifiedMatching MONDO:0009753 obsolete neurovisceral storage disease with Curvilinear bodies skos:exactMatch mesh:C564944 semapv:UnspecifiedMatching MONDO:0009754 neutropenia, lethal congenital, with eosinophilia skos:exactMatch MEDGEN:338037 semapv:UnspecifiedMatching MONDO:0009754 neutropenia, lethal congenital, with eosinophilia skos:exactMatch OMIM:257100 neutropenia, lethal congenital, with eosinophilia semapv:UnspecifiedMatching MONDO:0009754 neutropenia, lethal congenital, with eosinophilia skos:exactMatch UMLS:C1850381 semapv:UnspecifiedMatching MONDO:0009754 neutropenia, lethal congenital, with eosinophilia skos:exactMatch mesh:C564943 semapv:UnspecifiedMatching MONDO:0009755 neutrophil actin dysfunction skos:exactMatch MEDGEN:338036 semapv:UnspecifiedMatching MONDO:0009755 neutrophil actin dysfunction skos:exactMatch NCIT:C3694 Cutaneous Dysplastic Nevus semapv:UnspecifiedMatching MONDO:0009755 neutrophil actin dysfunction skos:exactMatch OMIM:257150 neutrophil actin dysfunction semapv:UnspecifiedMatching MONDO:0009755 neutrophil actin dysfunction skos:exactMatch UMLS:C1850380 semapv:UnspecifiedMatching MONDO:0009755 neutrophil actin dysfunction skos:exactMatch mesh:C564942 semapv:UnspecifiedMatching MONDO:0009756 Niemann-Pick disease type A skos:exactMatch DOID:0070111 Niemann-Pick disease type A semapv:UnspecifiedMatching MONDO:0009756 Niemann-Pick disease type A skos:exactMatch ICD10CM:E75.240 Niemann-Pick disease type A semapv:UnspecifiedMatching MONDO:0009756 Niemann-Pick disease type A skos:exactMatch MEDGEN:78650 semapv:UnspecifiedMatching MONDO:0009756 Niemann-Pick disease type A skos:exactMatch NCIT:C126561 Niemann-Pick Disease, Type A semapv:UnspecifiedMatching MONDO:0009756 Niemann-Pick disease type A skos:exactMatch OMIM:257200 niemann-pick disease, type a semapv:UnspecifiedMatching MONDO:0009756 Niemann-Pick disease type A skos:exactMatch Orphanet:77292 Infantile neurovisceral acid sphingomyelinase deficiency semapv:UnspecifiedMatching MONDO:0009756 Niemann-Pick disease type A skos:exactMatch SCTID:52165006 semapv:UnspecifiedMatching MONDO:0009756 Niemann-Pick disease type A skos:exactMatch UMLS:C0268242 semapv:UnspecifiedMatching MONDO:0009756 Niemann-Pick disease type A skos:exactMatch icd11.foundation:530611243 Niemann-Pick disease type A semapv:UnspecifiedMatching MONDO:0009756 Niemann-Pick disease type A skos:exactMatch mesh:D052536 semapv:UnspecifiedMatching MONDO:0009757 Niemann-Pick disease, type C1 skos:exactMatch DOID:0070113 Niemann-Pick disease type C1 semapv:UnspecifiedMatching MONDO:0009757 Niemann-Pick disease, type C1 skos:exactMatch MEDGEN:465922 semapv:UnspecifiedMatching MONDO:0009757 Niemann-Pick disease, type C1 skos:exactMatch NCIT:C126864 Niemann-Pick Disease, Type C1 semapv:UnspecifiedMatching MONDO:0009757 Niemann-Pick disease, type C1 skos:exactMatch OMIM:257220 niemann-pick disease, type c1 semapv:UnspecifiedMatching MONDO:0009757 Niemann-Pick disease, type C1 skos:exactMatch SCTID:18927009 semapv:UnspecifiedMatching MONDO:0009757 Niemann-Pick disease, type C1 skos:exactMatch SCTID:67855008 semapv:UnspecifiedMatching MONDO:0009757 Niemann-Pick disease, type C1 skos:exactMatch UMLS:C3179455 semapv:UnspecifiedMatching MONDO:0009758 congenital stationary night blindness 1B skos:exactMatch DOID:0110865 congenital stationary night blindness 1B semapv:UnspecifiedMatching MONDO:0009758 congenital stationary night blindness 1B skos:exactMatch MEDGEN:342484 semapv:UnspecifiedMatching MONDO:0009758 congenital stationary night blindness 1B skos:exactMatch OMIM:257270 night blindness, congenital stationary, type 1b semapv:UnspecifiedMatching MONDO:0009758 congenital stationary night blindness 1B skos:exactMatch UMLS:C1850362 semapv:UnspecifiedMatching MONDO:0009759 mosaic variegated aneuploidy syndrome 1 skos:exactMatch DOID:0080141 mosaic variegated aneuploidy syndrome 1 semapv:UnspecifiedMatching MONDO:0009759 mosaic variegated aneuploidy syndrome 1 skos:exactMatch MEDGEN:338026 semapv:UnspecifiedMatching MONDO:0009759 mosaic variegated aneuploidy syndrome 1 skos:exactMatch NCIT:C128192 Mosaic Variegated Aneuploidy Syndrome 1 semapv:UnspecifiedMatching MONDO:0009759 mosaic variegated aneuploidy syndrome 1 skos:exactMatch OMIM:257300 mosaic variegated aneuploidy syndrome 1 semapv:UnspecifiedMatching MONDO:0009759 mosaic variegated aneuploidy syndrome 1 skos:exactMatch UMLS:C1850343 semapv:UnspecifiedMatching MONDO:0009760 Norman-Roberts syndrome skos:exactMatch DOID:0060902 Norman-Roberts syndrome semapv:UnspecifiedMatching MONDO:0009760 Norman-Roberts syndrome skos:exactMatch MEDGEN:163213 semapv:UnspecifiedMatching MONDO:0009760 Norman-Roberts syndrome skos:exactMatch OMIM:257320 lissencephaly 2 semapv:UnspecifiedMatching MONDO:0009760 Norman-Roberts syndrome skos:exactMatch Orphanet:89844 Lissencephaly syndrome, Norman-Roberts type semapv:UnspecifiedMatching MONDO:0009760 Norman-Roberts syndrome skos:exactMatch SCTID:717977003 semapv:UnspecifiedMatching MONDO:0009760 Norman-Roberts syndrome skos:exactMatch UMLS:C0796089 semapv:UnspecifiedMatching MONDO:0009760 Norman-Roberts syndrome skos:exactMatch icd11.foundation:164166454 Microlissencephaly type A semapv:UnspecifiedMatching MONDO:0009761 cystic hygroma skos:exactMatch DOID:3081 cystic lymphangioma semapv:UnspecifiedMatching MONDO:0009761 cystic hygroma skos:exactMatch EFO:1000888 semapv:UnspecifiedMatching MONDO:0009761 cystic hygroma skos:exactMatch MEDGEN:60195 semapv:UnspecifiedMatching MONDO:0009761 cystic hygroma skos:exactMatch NCIT:C3724 Cystic Hygroma semapv:UnspecifiedMatching MONDO:0009761 cystic hygroma skos:exactMatch OMIM:257350 nuchal bleb, familial semapv:UnspecifiedMatching MONDO:0009761 cystic hygroma skos:exactMatch SCTID:399882002 semapv:UnspecifiedMatching MONDO:0009761 cystic hygroma skos:exactMatch UMLS:C0206620 semapv:UnspecifiedMatching MONDO:0009761 cystic hygroma skos:exactMatch mesh:D018191 semapv:UnspecifiedMatching MONDO:0009762 nystagmus, congenital, autosomal recessive skos:exactMatch DOID:0061178 autosomal recessive congenital nystagmus 8 semapv:UnspecifiedMatching MONDO:0009762 nystagmus, congenital, autosomal recessive skos:exactMatch MEDGEN:462921 semapv:UnspecifiedMatching MONDO:0009762 nystagmus, congenital, autosomal recessive skos:exactMatch OMIM:257400 nystagmus 8, congenital, autosomal recessive semapv:UnspecifiedMatching MONDO:0009762 nystagmus, congenital, autosomal recessive skos:exactMatch UMLS:C3151571 semapv:UnspecifiedMatching MONDO:0009762 nystagmus, congenital, autosomal recessive skos:exactMatch mesh:C564938 semapv:UnspecifiedMatching MONDO:0009763 obesity-hypoventilation syndrome skos:exactMatch EFO:1001382 semapv:UnspecifiedMatching MONDO:0009763 obesity-hypoventilation syndrome skos:exactMatch MEDGEN:18472 semapv:UnspecifiedMatching MONDO:0009763 obesity-hypoventilation syndrome skos:exactMatch OMIM:257500 obesity-hypoventilation syndrome semapv:UnspecifiedMatching MONDO:0009763 obesity-hypoventilation syndrome skos:exactMatch SCTID:190966007 semapv:UnspecifiedMatching MONDO:0009763 obesity-hypoventilation syndrome skos:exactMatch UMLS:C0031880 semapv:UnspecifiedMatching MONDO:0009763 obesity-hypoventilation syndrome skos:exactMatch mesh:D010845 semapv:UnspecifiedMatching MONDO:0009764 ocular motor apraxia, Cogan type skos:exactMatch DOID:0080849 ocular motor apraxia, Cogan type semapv:UnspecifiedMatching MONDO:0009764 ocular motor apraxia, Cogan type skos:exactMatch MEDGEN:154254 semapv:UnspecifiedMatching MONDO:0009764 ocular motor apraxia, Cogan type skos:exactMatch OMIM:257550 ocular motor apraxia semapv:UnspecifiedMatching MONDO:0009764 ocular motor apraxia, Cogan type skos:exactMatch Orphanet:1125 Ocular motor apraxia, Cogan type semapv:UnspecifiedMatching MONDO:0009764 ocular motor apraxia, Cogan type skos:exactMatch SCTID:405809000 semapv:UnspecifiedMatching MONDO:0009764 ocular motor apraxia, Cogan type skos:exactMatch UMLS:C0543874 semapv:UnspecifiedMatching MONDO:0009764 ocular motor apraxia, Cogan type skos:exactMatch mesh:C537423 semapv:UnspecifiedMatching MONDO:0009765 ocular myopathy with curare sensitivity skos:exactMatch MEDGEN:376764 semapv:UnspecifiedMatching MONDO:0009765 ocular myopathy with curare sensitivity skos:exactMatch OMIM:257600 ocular myopathy with curare sensitivity semapv:UnspecifiedMatching MONDO:0009765 ocular myopathy with curare sensitivity skos:exactMatch UMLS:C1850341 semapv:UnspecifiedMatching MONDO:0009765 ocular myopathy with curare sensitivity skos:exactMatch mesh:C564937 semapv:UnspecifiedMatching MONDO:0009766 oculocerebral hypopigmentation syndrome of Preus skos:exactMatch MEDGEN:419131 semapv:UnspecifiedMatching MONDO:0009766 oculocerebral hypopigmentation syndrome of Preus skos:exactMatch OMIM:257790 oculocerebral hypopigmentation syndrome of preus semapv:UnspecifiedMatching MONDO:0009766 oculocerebral hypopigmentation syndrome of Preus skos:exactMatch Orphanet:2720 Oculocerebral hypopigmentation syndrome, Preus type semapv:UnspecifiedMatching MONDO:0009766 oculocerebral hypopigmentation syndrome of Preus skos:exactMatch SCTID:716174001 semapv:UnspecifiedMatching MONDO:0009766 oculocerebral hypopigmentation syndrome of Preus skos:exactMatch UMLS:C2931646 semapv:UnspecifiedMatching MONDO:0009766 oculocerebral hypopigmentation syndrome of Preus skos:exactMatch mesh:C537866 semapv:UnspecifiedMatching MONDO:0009767 oculocerebral hypopigmentation syndrome, Cross type skos:exactMatch MEDGEN:423639 semapv:UnspecifiedMatching MONDO:0009767 oculocerebral hypopigmentation syndrome, Cross type skos:exactMatch OMIM:257800 oculocerebral syndrome with hypopigmentation semapv:UnspecifiedMatching MONDO:0009767 oculocerebral hypopigmentation syndrome, Cross type skos:exactMatch Orphanet:2719 Oculocerebral hypopigmentation syndrome, Cross type semapv:UnspecifiedMatching MONDO:0009767 oculocerebral hypopigmentation syndrome, Cross type skos:exactMatch SCTID:17827007 semapv:UnspecifiedMatching MONDO:0009767 oculocerebral hypopigmentation syndrome, Cross type skos:exactMatch UMLS:C2936910 semapv:UnspecifiedMatching MONDO:0009768 oculodentodigital dysplasia, autosomal recessive skos:exactMatch MEDGEN:412708 semapv:UnspecifiedMatching MONDO:0009768 oculodentodigital dysplasia, autosomal recessive skos:exactMatch OMIM:257850 oculodentodigital dysplasia, autosomal recessive semapv:UnspecifiedMatching MONDO:0009768 oculodentodigital dysplasia, autosomal recessive skos:exactMatch UMLS:C2749477 semapv:UnspecifiedMatching MONDO:0009768 oculodentodigital dysplasia, autosomal recessive skos:exactMatch mesh:C567605 semapv:UnspecifiedMatching MONDO:0009769 oculo-palato-cerebral syndrome skos:exactMatch MEDGEN:338025 semapv:UnspecifiedMatching MONDO:0009769 oculo-palato-cerebral syndrome skos:exactMatch OMIM:257910 oculopalatocerebral syndrome semapv:UnspecifiedMatching MONDO:0009769 oculo-palato-cerebral syndrome skos:exactMatch Orphanet:2714 Oculo-palato-cerebral syndrome semapv:UnspecifiedMatching MONDO:0009769 oculo-palato-cerebral syndrome skos:exactMatch SCTID:722055008 semapv:UnspecifiedMatching MONDO:0009769 oculo-palato-cerebral syndrome skos:exactMatch UMLS:C1850338 semapv:UnspecifiedMatching MONDO:0009769 oculo-palato-cerebral syndrome skos:exactMatch mesh:C564935 semapv:UnspecifiedMatching MONDO:0009770 3MC syndrome 1 skos:exactMatch DOID:0060575 3MC syndrome 1 semapv:UnspecifiedMatching MONDO:0009770 3MC syndrome 1 skos:exactMatch EFO:1001978 semapv:UnspecifiedMatching MONDO:0009770 3MC syndrome 1 skos:exactMatch MEDGEN:167100 semapv:UnspecifiedMatching MONDO:0009770 3MC syndrome 1 skos:exactMatch OMIM:257920 3mc syndrome 1 semapv:UnspecifiedMatching MONDO:0009770 3MC syndrome 1 skos:exactMatch UMLS:C0796059 semapv:UnspecifiedMatching MONDO:0009771 oculotrichodysplasia skos:exactMatch MEDGEN:340517 semapv:UnspecifiedMatching MONDO:0009771 oculotrichodysplasia skos:exactMatch OMIM:257960 oculotrichodysplasia semapv:UnspecifiedMatching MONDO:0009771 oculotrichodysplasia skos:exactMatch Orphanet:2718 Oculotrichodysplasia semapv:UnspecifiedMatching MONDO:0009771 oculotrichodysplasia skos:exactMatch SCTID:722062004 semapv:UnspecifiedMatching MONDO:0009771 oculotrichodysplasia skos:exactMatch UMLS:C1850332 semapv:UnspecifiedMatching MONDO:0009771 oculotrichodysplasia skos:exactMatch icd11.foundation:1202969811 Oculotrichodysplasia semapv:UnspecifiedMatching MONDO:0009771 oculotrichodysplasia skos:exactMatch mesh:C564934 semapv:UnspecifiedMatching MONDO:0009772 oculorenocerebellar syndrome skos:exactMatch MEDGEN:340516 semapv:UnspecifiedMatching MONDO:0009772 oculorenocerebellar syndrome skos:exactMatch OMIM:257970 oculorenocerebellar syndrome semapv:UnspecifiedMatching MONDO:0009772 oculorenocerebellar syndrome skos:exactMatch Orphanet:2715 Severe oculo-renal-cerebellar syndrome semapv:UnspecifiedMatching MONDO:0009772 oculorenocerebellar syndrome skos:exactMatch UMLS:C1850331 semapv:UnspecifiedMatching MONDO:0009772 oculorenocerebellar syndrome skos:exactMatch mesh:C537739 semapv:UnspecifiedMatching MONDO:0009773 odonto-onycho-dermal dysplasia skos:exactMatch MEDGEN:208666 semapv:UnspecifiedMatching MONDO:0009773 odonto-onycho-dermal dysplasia skos:exactMatch OMIM:257980 odontoonychodermal dysplasia semapv:UnspecifiedMatching MONDO:0009773 odonto-onycho-dermal dysplasia skos:exactMatch Orphanet:2721 Odonto-onycho-dermal dysplasia semapv:UnspecifiedMatching MONDO:0009773 odonto-onycho-dermal dysplasia skos:exactMatch SCTID:403762003 semapv:UnspecifiedMatching MONDO:0009773 odonto-onycho-dermal dysplasia skos:exactMatch UMLS:C0796093 semapv:UnspecifiedMatching MONDO:0009773 odonto-onycho-dermal dysplasia skos:exactMatch icd11.foundation:1256237872 Odonto-onycho-dermal dysplasia semapv:UnspecifiedMatching MONDO:0009773 odonto-onycho-dermal dysplasia skos:exactMatch mesh:C537742 semapv:UnspecifiedMatching MONDO:0009774 cloacal exstrophy skos:exactMatch DOID:0080175 cloacal exstrophy semapv:UnspecifiedMatching MONDO:0009774 cloacal exstrophy skos:exactMatch MEDGEN:83377 semapv:UnspecifiedMatching MONDO:0009774 cloacal exstrophy skos:exactMatch Orphanet:93929 Cloacal exstrophy semapv:UnspecifiedMatching MONDO:0009774 cloacal exstrophy skos:exactMatch SCTID:20815007 semapv:UnspecifiedMatching MONDO:0009774 cloacal exstrophy skos:exactMatch UMLS:C0345217 semapv:UnspecifiedMatching MONDO:0009774 cloacal exstrophy skos:exactMatch icd11.foundation:2004612103 Cloacal exstrophy semapv:UnspecifiedMatching MONDO:0009774 cloacal exstrophy skos:exactMatch mesh:C537748 semapv:UnspecifiedMatching MONDO:0009775 Oguchi disease-1 skos:exactMatch DOID:0110712 Oguchi disease-1 semapv:UnspecifiedMatching MONDO:0009775 Oguchi disease-1 skos:exactMatch MEDGEN:1645330 semapv:UnspecifiedMatching MONDO:0009775 Oguchi disease-1 skos:exactMatch OMIM:258100 oguchi disease 1 semapv:UnspecifiedMatching MONDO:0009775 Oguchi disease-1 skos:exactMatch UMLS:C4551824 semapv:UnspecifiedMatching MONDO:0009776 spermatogenic failure 1 skos:exactMatch DOID:0070188 spermatogenic failure 1 semapv:UnspecifiedMatching MONDO:0009776 spermatogenic failure 1 skos:exactMatch MEDGEN:140793 semapv:UnspecifiedMatching MONDO:0009776 spermatogenic failure 1 skos:exactMatch OMIM:258150 spermatogenic failure 1 semapv:UnspecifiedMatching MONDO:0009776 spermatogenic failure 1 skos:exactMatch SCTID:236803007 semapv:UnspecifiedMatching MONDO:0009776 spermatogenic failure 1 skos:exactMatch UMLS:C0403810 semapv:UnspecifiedMatching MONDO:0009776 spermatogenic failure 1 skos:exactMatch mesh:C562902 semapv:UnspecifiedMatching MONDO:0009777 Oliver syndrome skos:exactMatch MEDGEN:342472 semapv:UnspecifiedMatching MONDO:0009777 Oliver syndrome skos:exactMatch OMIM:258200 Oliver syndrome semapv:UnspecifiedMatching MONDO:0009777 Oliver syndrome skos:exactMatch Orphanet:2920 Oliver syndrome semapv:UnspecifiedMatching MONDO:0009777 Oliver syndrome skos:exactMatch SCTID:721017000 semapv:UnspecifiedMatching MONDO:0009777 Oliver syndrome skos:exactMatch UMLS:C1850320 semapv:UnspecifiedMatching MONDO:0009777 Oliver syndrome skos:exactMatch icd11.foundation:2072460929 Oliver syndrome semapv:UnspecifiedMatching MONDO:0009777 Oliver syndrome skos:exactMatch mesh:C564931 semapv:UnspecifiedMatching MONDO:0009778 olivopontocerebellar atrophy II, autosomal recessive skos:exactMatch MEDGEN:376758 semapv:UnspecifiedMatching MONDO:0009778 olivopontocerebellar atrophy II, autosomal recessive skos:exactMatch OMIM:258300 cerebellar ataxia and albinism semapv:UnspecifiedMatching MONDO:0009778 olivopontocerebellar atrophy II, autosomal recessive skos:exactMatch UMLS:C1850319 semapv:UnspecifiedMatching MONDO:0009778 olivopontocerebellar atrophy II, autosomal recessive skos:exactMatch mesh:C564930 semapv:UnspecifiedMatching MONDO:0009779 autosomal recessive omodysplasia skos:exactMatch DOID:0080844 omodysplasia 1 semapv:UnspecifiedMatching MONDO:0009779 autosomal recessive omodysplasia skos:exactMatch MEDGEN:340513 semapv:UnspecifiedMatching MONDO:0009779 autosomal recessive omodysplasia skos:exactMatch OMIM:258315 omodysplasia 1 semapv:UnspecifiedMatching MONDO:0009779 autosomal recessive omodysplasia skos:exactMatch Orphanet:93329 Autosomal recessive omodysplasia semapv:UnspecifiedMatching MONDO:0009779 autosomal recessive omodysplasia skos:exactMatch SCTID:725166005 semapv:UnspecifiedMatching MONDO:0009779 autosomal recessive omodysplasia skos:exactMatch UMLS:C1850318 semapv:UnspecifiedMatching MONDO:0009779 autosomal recessive omodysplasia skos:exactMatch icd11.foundation:350802889 Autosomal recessive omodysplasia semapv:UnspecifiedMatching MONDO:0009780 lethal omphalocele-cleft palate syndrome skos:exactMatch MEDGEN:376757 semapv:UnspecifiedMatching MONDO:0009780 lethal omphalocele-cleft palate syndrome skos:exactMatch OMIM:258320 omphalocele-cleft palate syndrome, lethal semapv:UnspecifiedMatching MONDO:0009780 lethal omphalocele-cleft palate syndrome skos:exactMatch Orphanet:2736 Lethal omphalocele-cleft palate syndrome semapv:UnspecifiedMatching MONDO:0009780 lethal omphalocele-cleft palate syndrome skos:exactMatch SCTID:719408007 semapv:UnspecifiedMatching MONDO:0009780 lethal omphalocele-cleft palate syndrome skos:exactMatch UMLS:C1850317 semapv:UnspecifiedMatching MONDO:0009780 lethal omphalocele-cleft palate syndrome skos:exactMatch mesh:C537747 semapv:UnspecifiedMatching MONDO:0009781 Onychotrichodysplasia and neutropenia skos:exactMatch MEDGEN:340512 semapv:UnspecifiedMatching MONDO:0009781 Onychotrichodysplasia and neutropenia skos:exactMatch OMIM:258360 onychotrichodysplasia and neutropenia semapv:UnspecifiedMatching MONDO:0009781 Onychotrichodysplasia and neutropenia skos:exactMatch UMLS:C1850316 semapv:UnspecifiedMatching MONDO:0009781 Onychotrichodysplasia and neutropenia skos:exactMatch mesh:C537752 semapv:UnspecifiedMatching MONDO:0009782 ophthalmoplegia totalis with ptosis and miosis skos:exactMatch MEDGEN:342471 semapv:UnspecifiedMatching MONDO:0009782 ophthalmoplegia totalis with ptosis and miosis skos:exactMatch OMIM:258400 ophthalmoplegia totalis with ptosis and miosis semapv:UnspecifiedMatching MONDO:0009782 ophthalmoplegia totalis with ptosis and miosis skos:exactMatch UMLS:C1850314 semapv:UnspecifiedMatching MONDO:0009782 ophthalmoplegia totalis with ptosis and miosis skos:exactMatch mesh:C564927 semapv:UnspecifiedMatching MONDO:0009783 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 skos:exactMatch DOID:0111522 autosomal recessive progressive external ophthalmoplegia 1 semapv:UnspecifiedMatching MONDO:0009783 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 skos:exactMatch MEDGEN:897191 semapv:UnspecifiedMatching MONDO:0009783 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 skos:exactMatch OMIM:258450 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 semapv:UnspecifiedMatching MONDO:0009783 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 skos:exactMatch UMLS:C4225153 semapv:UnspecifiedMatching MONDO:0009784 ophthalmoplegic neuromuscular disorder with abnormal mitochondria skos:exactMatch MEDGEN:340508 semapv:UnspecifiedMatching MONDO:0009784 ophthalmoplegic neuromuscular disorder with abnormal mitochondria skos:exactMatch OMIM:258470 ophthalmoplegic neuromuscular disorder with abnormal mitochondria semapv:UnspecifiedMatching MONDO:0009784 ophthalmoplegic neuromuscular disorder with abnormal mitochondria skos:exactMatch UMLS:C1850302 semapv:UnspecifiedMatching MONDO:0009784 ophthalmoplegic neuromuscular disorder with abnormal mitochondria skos:exactMatch mesh:C564925 semapv:UnspecifiedMatching MONDO:0009785 opsismodysplasia skos:exactMatch MEDGEN:140927 semapv:UnspecifiedMatching MONDO:0009785 opsismodysplasia skos:exactMatch OMIM:258480 opsismodysplasia semapv:UnspecifiedMatching MONDO:0009785 opsismodysplasia skos:exactMatch Orphanet:2746 Opsismodysplasia semapv:UnspecifiedMatching MONDO:0009785 opsismodysplasia skos:exactMatch SCTID:254068007 semapv:UnspecifiedMatching MONDO:0009785 opsismodysplasia skos:exactMatch UMLS:C0432219 semapv:UnspecifiedMatching MONDO:0009785 opsismodysplasia skos:exactMatch icd11.foundation:2147268863 Opsismodysplasia semapv:UnspecifiedMatching MONDO:0009785 opsismodysplasia skos:exactMatch mesh:C537122 semapv:UnspecifiedMatching MONDO:0009786 optic atrophy 6 skos:exactMatch DOID:0111435 optic atrophy 6 semapv:UnspecifiedMatching MONDO:0009786 optic atrophy 6 skos:exactMatch MEDGEN:338012 semapv:UnspecifiedMatching MONDO:0009786 optic atrophy 6 skos:exactMatch OMIM:258500 optic atrophy 6 semapv:UnspecifiedMatching MONDO:0009786 optic atrophy 6 skos:exactMatch UMLS:C1850281 semapv:UnspecifiedMatching MONDO:0009786 optic atrophy 6 skos:exactMatch mesh:C537127 semapv:UnspecifiedMatching MONDO:0009787 3-methylglutaconic aciduria type 3 skos:exactMatch DOID:0110004 3-methylglutaconic aciduria type 3 semapv:UnspecifiedMatching MONDO:0009787 3-methylglutaconic aciduria type 3 skos:exactMatch MEDGEN:108273 semapv:UnspecifiedMatching MONDO:0009787 3-methylglutaconic aciduria type 3 skos:exactMatch OMIM:258501 3-methylglutaconic aciduria, type 3 semapv:UnspecifiedMatching MONDO:0009787 3-methylglutaconic aciduria type 3 skos:exactMatch Orphanet:67047 3-methylglutaconic aciduria type 3 semapv:UnspecifiedMatching MONDO:0009787 3-methylglutaconic aciduria type 3 skos:exactMatch SCTID:297232009 semapv:UnspecifiedMatching MONDO:0009787 3-methylglutaconic aciduria type 3 skos:exactMatch UMLS:C0574084 semapv:UnspecifiedMatching MONDO:0009787 3-methylglutaconic aciduria type 3 skos:exactMatch icd11.foundation:535412248 3-methylglutaconic aciduria type 3 semapv:UnspecifiedMatching MONDO:0009787 3-methylglutaconic aciduria type 3 skos:exactMatch mesh:C535311 semapv:UnspecifiedMatching MONDO:0009788 optic atrophy, hearing loss, and peripheral neuropathy, autosomal recessive skos:exactMatch MEDGEN:1875237 semapv:UnspecifiedMatching MONDO:0009788 optic atrophy, hearing loss, and peripheral neuropathy, autosomal recessive skos:exactMatch OMIM:258650 optic atrophy, hearing loss, and peripheral neuropathy, autosomal recessive semapv:UnspecifiedMatching MONDO:0009788 optic atrophy, hearing loss, and peripheral neuropathy, autosomal recessive skos:exactMatch UMLS:C5975709 semapv:UnspecifiedMatching MONDO:0009789 nonarteritic anterior ischemic optic neuropathy, susceptibility to skos:exactMatch MEDGEN:338294 semapv:UnspecifiedMatching MONDO:0009789 nonarteritic anterior ischemic optic neuropathy, susceptibility to skos:exactMatch OMIM:258660 nonarteritic anterior ischemic optic neuropathy, susceptibility to semapv:UnspecifiedMatching MONDO:0009789 nonarteritic anterior ischemic optic neuropathy, susceptibility to skos:exactMatch UMLS:C1847711 semapv:UnspecifiedMatching MONDO:0009790 Opticocochleodentate degeneration skos:exactMatch MEDGEN:101046 semapv:UnspecifiedMatching MONDO:0009790 Opticocochleodentate degeneration skos:exactMatch OMIM:258700 opticocochleodentate degeneration semapv:UnspecifiedMatching MONDO:0009790 Opticocochleodentate degeneration skos:exactMatch SCTID:77553008 semapv:UnspecifiedMatching MONDO:0009790 Opticocochleodentate degeneration skos:exactMatch UMLS:C0520711 semapv:UnspecifiedMatching MONDO:0009790 Opticocochleodentate degeneration skos:exactMatch mesh:C563002 semapv:UnspecifiedMatching MONDO:0009791 oral sensibility, disturbance of skos:exactMatch MEDGEN:376745 semapv:UnspecifiedMatching MONDO:0009791 oral sensibility, disturbance of skos:exactMatch OMIM:258800 oral sensibility, disturbance of semapv:UnspecifiedMatching MONDO:0009791 oral sensibility, disturbance of skos:exactMatch UMLS:C1850269 semapv:UnspecifiedMatching MONDO:0009792 ichthyosis-oral and digital anomalies syndrome skos:exactMatch MEDGEN:342457 semapv:UnspecifiedMatching MONDO:0009792 ichthyosis-oral and digital anomalies syndrome skos:exactMatch OMIM:258840 oral and digital anomalies with ichthyosis semapv:UnspecifiedMatching MONDO:0009792 ichthyosis-oral and digital anomalies syndrome skos:exactMatch Orphanet:2272 Ichthyosis-oral and digital anomalies syndrome semapv:UnspecifiedMatching MONDO:0009792 ichthyosis-oral and digital anomalies syndrome skos:exactMatch UMLS:C1850268 semapv:UnspecifiedMatching MONDO:0009792 ichthyosis-oral and digital anomalies syndrome skos:exactMatch mesh:C536272 semapv:UnspecifiedMatching MONDO:0009793 orofaciodigital syndrome III skos:exactMatch DOID:0060373 orofaciodigital syndrome III semapv:UnspecifiedMatching MONDO:0009793 orofaciodigital syndrome III skos:exactMatch MEDGEN:96069 semapv:UnspecifiedMatching MONDO:0009793 orofaciodigital syndrome III skos:exactMatch OMIM:258850 orofaciodigital syndrome 3 semapv:UnspecifiedMatching MONDO:0009793 orofaciodigital syndrome III skos:exactMatch SCTID:239030004 semapv:UnspecifiedMatching MONDO:0009793 orofaciodigital syndrome III skos:exactMatch UMLS:C0406726 semapv:UnspecifiedMatching MONDO:0009793 orofaciodigital syndrome III skos:exactMatch mesh:C557817 semapv:UnspecifiedMatching MONDO:0009794 orofaciodigital syndrome IV skos:exactMatch DOID:0060374 orofaciodigital syndrome IV semapv:UnspecifiedMatching MONDO:0009794 orofaciodigital syndrome IV skos:exactMatch MEDGEN:98358 semapv:UnspecifiedMatching MONDO:0009794 orofaciodigital syndrome IV skos:exactMatch OMIM:258860 orofaciodigital syndrome 4 semapv:UnspecifiedMatching MONDO:0009794 orofaciodigital syndrome IV skos:exactMatch Orphanet:2753 Orofaciodigital syndrome type 4 semapv:UnspecifiedMatching MONDO:0009794 orofaciodigital syndrome IV skos:exactMatch SCTID:239031000 semapv:UnspecifiedMatching MONDO:0009794 orofaciodigital syndrome IV skos:exactMatch UMLS:C0406727 semapv:UnspecifiedMatching MONDO:0009794 orofaciodigital syndrome IV skos:exactMatch mesh:C537133 semapv:UnspecifiedMatching MONDO:0009795 orofaciodigital syndrome IX skos:exactMatch DOID:0060382 orofaciodigital syndrome IX semapv:UnspecifiedMatching MONDO:0009795 orofaciodigital syndrome IX skos:exactMatch MEDGEN:162908 semapv:UnspecifiedMatching MONDO:0009795 orofaciodigital syndrome IX skos:exactMatch OMIM:258865 orofaciodigital syndrome 9 semapv:UnspecifiedMatching MONDO:0009795 orofaciodigital syndrome IX skos:exactMatch Orphanet:141007 Orofaciodigital syndrome type 9 semapv:UnspecifiedMatching MONDO:0009795 orofaciodigital syndrome IX skos:exactMatch SCTID:718680001 semapv:UnspecifiedMatching MONDO:0009795 orofaciodigital syndrome IX skos:exactMatch UMLS:C0796102 semapv:UnspecifiedMatching MONDO:0009795 orofaciodigital syndrome IX skos:exactMatch mesh:C557818 semapv:UnspecifiedMatching MONDO:0009796 ornithine aminotransferase deficiency skos:exactMatch DOID:1415 gyrate atrophy semapv:UnspecifiedMatching MONDO:0009796 ornithine aminotransferase deficiency skos:exactMatch MEDGEN:6695 semapv:UnspecifiedMatching MONDO:0009796 ornithine aminotransferase deficiency skos:exactMatch NCIT:C84744 Gyrate Atrophy semapv:UnspecifiedMatching MONDO:0009796 ornithine aminotransferase deficiency skos:exactMatch OMIM:258870 gyrate atrophy of choroid and retina semapv:UnspecifiedMatching MONDO:0009796 ornithine aminotransferase deficiency skos:exactMatch Orphanet:414 Gyrate atrophy of choroid and retina semapv:UnspecifiedMatching MONDO:0009796 ornithine aminotransferase deficiency skos:exactMatch UMLS:C0018425 semapv:UnspecifiedMatching MONDO:0009796 ornithine aminotransferase deficiency skos:exactMatch mesh:D015799 semapv:UnspecifiedMatching MONDO:0009797 orotic aciduria skos:exactMatch DOID:0050833 orotic aciduria semapv:UnspecifiedMatching MONDO:0009797 orotic aciduria skos:exactMatch MEDGEN:472940 semapv:UnspecifiedMatching MONDO:0009797 orotic aciduria skos:exactMatch NCIT:C98944 Hereditary Orotic Aciduria semapv:UnspecifiedMatching MONDO:0009797 orotic aciduria skos:exactMatch OMIM:258900 orotic aciduria semapv:UnspecifiedMatching MONDO:0009797 orotic aciduria skos:exactMatch Orphanet:30 Hereditary orotic aciduria semapv:UnspecifiedMatching MONDO:0009797 orotic aciduria skos:exactMatch SCTID:47641009 semapv:UnspecifiedMatching MONDO:0009797 orotic aciduria skos:exactMatch UMLS:C0220987 semapv:UnspecifiedMatching MONDO:0009797 orotic aciduria skos:exactMatch icd11.foundation:449856959 Hereditary orotic aciduria semapv:UnspecifiedMatching MONDO:0009798 Primrose syndrome skos:exactMatch MEDGEN:162911 semapv:UnspecifiedMatching MONDO:0009798 Primrose syndrome skos:exactMatch OMIM:259050 primrose syndrome semapv:UnspecifiedMatching MONDO:0009798 Primrose syndrome skos:exactMatch Orphanet:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome semapv:UnspecifiedMatching MONDO:0009798 Primrose syndrome skos:exactMatch SCTID:726709001 semapv:UnspecifiedMatching MONDO:0009798 Primrose syndrome skos:exactMatch UMLS:C0796121 semapv:UnspecifiedMatching MONDO:0009798 Primrose syndrome skos:exactMatch mesh:C536420 semapv:UnspecifiedMatching MONDO:0009800 Blount disease, adolescent skos:exactMatch MEDGEN:462922 semapv:UnspecifiedMatching MONDO:0009800 Blount disease, adolescent skos:exactMatch OMIM:259200 blount disease, adolescent semapv:UnspecifiedMatching MONDO:0009800 Blount disease, adolescent skos:exactMatch UMLS:C3151572 semapv:UnspecifiedMatching MONDO:0009801 familial osteodysplasia, Anderson type skos:exactMatch MEDGEN:337990 semapv:UnspecifiedMatching MONDO:0009801 familial osteodysplasia, Anderson type skos:exactMatch OMIM:259250 osteodysplasia, familial, anderson type semapv:UnspecifiedMatching MONDO:0009801 familial osteodysplasia, Anderson type skos:exactMatch Orphanet:2769 Familial osteodysplasia, Anderson type semapv:UnspecifiedMatching MONDO:0009801 familial osteodysplasia, Anderson type skos:exactMatch UMLS:C1850186 semapv:UnspecifiedMatching MONDO:0009801 familial osteodysplasia, Anderson type skos:exactMatch icd11.foundation:107132680 Familial osteodysplasia, Anderson type semapv:UnspecifiedMatching MONDO:0009801 familial osteodysplasia, Anderson type skos:exactMatch mesh:C564923 semapv:UnspecifiedMatching MONDO:0009802 osteodysplasty, precocious, of Danks, Mayne, and Kozlowski skos:exactMatch MEDGEN:337989 semapv:UnspecifiedMatching MONDO:0009802 osteodysplasty, precocious, of Danks, Mayne, and Kozlowski skos:exactMatch OMIM:259270 osteodysplasty, precocious, of danks, mayne, and kozlowski semapv:UnspecifiedMatching MONDO:0009802 osteodysplasty, precocious, of Danks, Mayne, and Kozlowski skos:exactMatch UMLS:C1850185 semapv:UnspecifiedMatching MONDO:0009802 osteodysplasty, precocious, of Danks, Mayne, and Kozlowski skos:exactMatch mesh:C564922 semapv:UnspecifiedMatching MONDO:0009803 congenital osteogenesis imperfecta-microcephaly-cataracts syndrome skos:exactMatch MEDGEN:337988 semapv:UnspecifiedMatching MONDO:0009803 congenital osteogenesis imperfecta-microcephaly-cataracts syndrome skos:exactMatch OMIM:259410 osteogenesis imperfecta congenita, microcephaly, and cataracts semapv:UnspecifiedMatching MONDO:0009803 congenital osteogenesis imperfecta-microcephaly-cataracts syndrome skos:exactMatch Orphanet:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome semapv:UnspecifiedMatching MONDO:0009803 congenital osteogenesis imperfecta-microcephaly-cataracts syndrome skos:exactMatch UMLS:C1850184 semapv:UnspecifiedMatching MONDO:0009803 congenital osteogenesis imperfecta-microcephaly-cataracts syndrome skos:exactMatch mesh:C537558 semapv:UnspecifiedMatching MONDO:0009804 osteogenesis imperfecta type 3 skos:exactMatch DOID:0110339 osteogenesis imperfecta type 3 semapv:UnspecifiedMatching MONDO:0009804 osteogenesis imperfecta type 3 skos:exactMatch MEDGEN:78664 semapv:UnspecifiedMatching MONDO:0009804 osteogenesis imperfecta type 3 skos:exactMatch NCIT:C99002 Osteogenesis Imperfecta Type III semapv:UnspecifiedMatching MONDO:0009804 osteogenesis imperfecta type 3 skos:exactMatch OMIM:259420 osteogenesis imperfecta, type 3 semapv:UnspecifiedMatching MONDO:0009804 osteogenesis imperfecta type 3 skos:exactMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:UnspecifiedMatching MONDO:0009804 osteogenesis imperfecta type 3 skos:exactMatch SCTID:385483009 semapv:UnspecifiedMatching MONDO:0009804 osteogenesis imperfecta type 3 skos:exactMatch UMLS:C0268362 semapv:UnspecifiedMatching MONDO:0009804 osteogenesis imperfecta type 3 skos:exactMatch icd11.foundation:629873920 Osteogenesis imperfecta type 3 semapv:UnspecifiedMatching MONDO:0009804 osteogenesis imperfecta type 3 skos:exactMatch mesh:C536044 semapv:UnspecifiedMatching MONDO:0009805 osteogenesis imperfecta type 9 skos:exactMatch DOID:0110349 osteogenesis imperfecta type 9 semapv:UnspecifiedMatching MONDO:0009805 osteogenesis imperfecta type 9 skos:exactMatch MEDGEN:376720 semapv:UnspecifiedMatching MONDO:0009805 osteogenesis imperfecta type 9 skos:exactMatch OMIM:259440 osteogenesis imperfecta, type 9 semapv:UnspecifiedMatching MONDO:0009805 osteogenesis imperfecta type 9 skos:exactMatch UMLS:C1850169 semapv:UnspecifiedMatching MONDO:0009805 osteogenesis imperfecta type 9 skos:exactMatch mesh:C564921 semapv:UnspecifiedMatching MONDO:0009806 Bruck syndrome 1 skos:exactMatch MEDGEN:342431 semapv:UnspecifiedMatching MONDO:0009806 Bruck syndrome 1 skos:exactMatch OMIM:259450 bruck syndrome 1 semapv:UnspecifiedMatching MONDO:0009806 Bruck syndrome 1 skos:exactMatch UMLS:C1850168 semapv:UnspecifiedMatching MONDO:0009807 osteosarcoma skos:exactMatch DOID:3347 osteosarcoma semapv:UnspecifiedMatching MONDO:0009807 osteosarcoma skos:exactMatch EFO:0000637 semapv:UnspecifiedMatching MONDO:0009807 osteosarcoma skos:exactMatch MEDGEN:10501 semapv:UnspecifiedMatching MONDO:0009807 osteosarcoma skos:exactMatch NCIT:C9145 Osteosarcoma semapv:UnspecifiedMatching MONDO:0009807 osteosarcoma skos:exactMatch UMLS:C0029463 semapv:UnspecifiedMatching MONDO:0009807 osteosarcoma skos:exactMatch mesh:D012516 semapv:UnspecifiedMatching MONDO:0009808 osteoid osteoma skos:exactMatch MEDGEN:18221 semapv:UnspecifiedMatching MONDO:0009808 osteoid osteoma skos:exactMatch NCIT:C3297 Osteoid Osteoma semapv:UnspecifiedMatching MONDO:0009808 osteoid osteoma skos:exactMatch OMIM:259550 osteoid osteoma semapv:UnspecifiedMatching MONDO:0009808 osteoid osteoma skos:exactMatch SCTID:302859004 semapv:UnspecifiedMatching MONDO:0009808 osteoid osteoma skos:exactMatch UMLS:C0029441 semapv:UnspecifiedMatching MONDO:0009808 osteoid osteoma skos:exactMatch mesh:D010017 semapv:UnspecifiedMatching MONDO:0009809 multicentric osteolysis, nodulosis, and arthropathy skos:exactMatch NCIT:C123437 Multicentric Osteolysis, Nodulosis, and Arthropathy semapv:UnspecifiedMatching MONDO:0009809 multicentric osteolysis, nodulosis, and arthropathy skos:exactMatch OMIM:259600 multicentric osteolysis, nodulosis, and arthropathy semapv:UnspecifiedMatching MONDO:0009810 autosomal recessive distal osteolysis syndrome skos:exactMatch MEDGEN:376714 semapv:UnspecifiedMatching MONDO:0009810 autosomal recessive distal osteolysis syndrome skos:exactMatch OMIM:259610 osteolysis syndrome, recessive semapv:UnspecifiedMatching MONDO:0009810 autosomal recessive distal osteolysis syndrome skos:exactMatch Orphanet:2776 Autosomal recessive distal osteolysis syndrome semapv:UnspecifiedMatching MONDO:0009810 autosomal recessive distal osteolysis syndrome skos:exactMatch SCTID:715487005 semapv:UnspecifiedMatching MONDO:0009810 autosomal recessive distal osteolysis syndrome skos:exactMatch UMLS:C1850143 semapv:UnspecifiedMatching MONDO:0009810 autosomal recessive distal osteolysis syndrome skos:exactMatch icd11.foundation:1878981266 Autosomal recessive distal osteolysis syndrome semapv:UnspecifiedMatching MONDO:0009810 autosomal recessive distal osteolysis syndrome skos:exactMatch mesh:C536052 semapv:UnspecifiedMatching MONDO:0009811 osteoma of middle ear skos:exactMatch MEDGEN:342425 semapv:UnspecifiedMatching MONDO:0009811 osteoma of middle ear skos:exactMatch OMIM:259650 osteoma of middle ear semapv:UnspecifiedMatching MONDO:0009811 osteoma of middle ear skos:exactMatch UMLS:C1850142 semapv:UnspecifiedMatching MONDO:0009811 osteoma of middle ear skos:exactMatch mesh:C564917 semapv:UnspecifiedMatching MONDO:0009813 chronic recurrent multifocal osteomyelitis skos:exactMatch DOID:0060645 chronic recurrent multifocal osteomyelitis semapv:UnspecifiedMatching MONDO:0009813 chronic recurrent multifocal osteomyelitis skos:exactMatch ICD10CM:M86.3 Chronic multifocal osteomyelitis semapv:UnspecifiedMatching MONDO:0009813 chronic recurrent multifocal osteomyelitis skos:exactMatch MEDGEN:140822 semapv:UnspecifiedMatching MONDO:0009813 chronic recurrent multifocal osteomyelitis skos:exactMatch NCIT:C119042 Chronic Recurrent Multifocal Osteomyelitis semapv:UnspecifiedMatching MONDO:0009813 chronic recurrent multifocal osteomyelitis skos:exactMatch OMIMPS:609628 Chronic recurrent multifocal osteomyelitis semapv:UnspecifiedMatching MONDO:0009813 chronic recurrent multifocal osteomyelitis skos:exactMatch Orphanet:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis semapv:UnspecifiedMatching MONDO:0009813 chronic recurrent multifocal osteomyelitis skos:exactMatch SCTID:240151005 semapv:UnspecifiedMatching MONDO:0009813 chronic recurrent multifocal osteomyelitis skos:exactMatch UMLS:C0410422 semapv:UnspecifiedMatching MONDO:0009813 chronic recurrent multifocal osteomyelitis skos:exactMatch icd11.foundation:1256384247 Chronic recurrent multifocal osteomyelitis semapv:UnspecifiedMatching MONDO:0009813 chronic recurrent multifocal osteomyelitis skos:exactMatch mesh:C535456 semapv:UnspecifiedMatching MONDO:0009814 osteopenia-intellectual disability-sparse hair syndrome skos:exactMatch MEDGEN:337979 semapv:UnspecifiedMatching MONDO:0009814 osteopenia-intellectual disability-sparse hair syndrome skos:exactMatch OMIM:259690 osteopenia and sparse hair semapv:UnspecifiedMatching MONDO:0009814 osteopenia-intellectual disability-sparse hair syndrome skos:exactMatch Orphanet:2324 Osteopenia-intellectual disability-sparse hair syndrome semapv:UnspecifiedMatching MONDO:0009814 osteopenia-intellectual disability-sparse hair syndrome skos:exactMatch SCTID:732954002 semapv:UnspecifiedMatching MONDO:0009814 osteopenia-intellectual disability-sparse hair syndrome skos:exactMatch UMLS:C1850140 semapv:UnspecifiedMatching MONDO:0009814 osteopenia-intellectual disability-sparse hair syndrome skos:exactMatch mesh:C537706 semapv:UnspecifiedMatching MONDO:0009815 autosomal recessive osteopetrosis 1 skos:exactMatch DOID:0110942 autosomal recessive osteopetrosis 1 semapv:UnspecifiedMatching MONDO:0009815 autosomal recessive osteopetrosis 1 skos:exactMatch MEDGEN:376708 semapv:UnspecifiedMatching MONDO:0009815 autosomal recessive osteopetrosis 1 skos:exactMatch NCIT:C167215 Autosomal Recessive Osteopetrosis 1 semapv:UnspecifiedMatching MONDO:0009815 autosomal recessive osteopetrosis 1 skos:exactMatch OMIM:259700 osteopetrosis, autosomal recessive 1 semapv:UnspecifiedMatching MONDO:0009815 autosomal recessive osteopetrosis 1 skos:exactMatch UMLS:C1850127 semapv:UnspecifiedMatching MONDO:0009815 autosomal recessive osteopetrosis 1 skos:exactMatch mesh:C564915 semapv:UnspecifiedMatching MONDO:0009816 autosomal recessive osteopetrosis 2 skos:exactMatch DOID:0110943 autosomal recessive osteopetrosis 2 semapv:UnspecifiedMatching MONDO:0009816 autosomal recessive osteopetrosis 2 skos:exactMatch MEDGEN:342420 semapv:UnspecifiedMatching MONDO:0009816 autosomal recessive osteopetrosis 2 skos:exactMatch OMIM:259710 osteopetrosis, autosomal recessive 2 semapv:UnspecifiedMatching MONDO:0009816 autosomal recessive osteopetrosis 2 skos:exactMatch UMLS:C1850126 semapv:UnspecifiedMatching MONDO:0009816 autosomal recessive osteopetrosis 2 skos:exactMatch mesh:C536059 semapv:UnspecifiedMatching MONDO:0009817 autosomal recessive osteopetrosis 5 skos:exactMatch DOID:0110939 autosomal recessive osteopetrosis 5 semapv:UnspecifiedMatching MONDO:0009817 autosomal recessive osteopetrosis 5 skos:exactMatch MEDGEN:409627 semapv:UnspecifiedMatching MONDO:0009817 autosomal recessive osteopetrosis 5 skos:exactMatch OMIM:259720 osteopetrosis, autosomal recessive 5 semapv:UnspecifiedMatching MONDO:0009817 autosomal recessive osteopetrosis 5 skos:exactMatch UMLS:C1968603 semapv:UnspecifiedMatching MONDO:0009817 autosomal recessive osteopetrosis 5 skos:exactMatch mesh:C566883 semapv:UnspecifiedMatching MONDO:0009818 autosomal recessive osteopetrosis 3 skos:exactMatch DOID:0110941 autosomal recessive osteopetrosis 3 semapv:UnspecifiedMatching MONDO:0009818 autosomal recessive osteopetrosis 3 skos:exactMatch MEDGEN:91042 semapv:UnspecifiedMatching MONDO:0009818 autosomal recessive osteopetrosis 3 skos:exactMatch NCIT:C118438 Osteopetrosis with Renal Tubular Acidosis semapv:UnspecifiedMatching MONDO:0009818 autosomal recessive osteopetrosis 3 skos:exactMatch OMIM:259730 osteopetrosis, autosomal recessive 3 semapv:UnspecifiedMatching MONDO:0009818 autosomal recessive osteopetrosis 3 skos:exactMatch Orphanet:2785 Osteopetrosis with renal tubular acidosis semapv:UnspecifiedMatching MONDO:0009818 autosomal recessive osteopetrosis 3 skos:exactMatch SCTID:254122007 semapv:UnspecifiedMatching MONDO:0009818 autosomal recessive osteopetrosis 3 skos:exactMatch UMLS:C0345407 semapv:UnspecifiedMatching MONDO:0009818 autosomal recessive osteopetrosis 3 skos:exactMatch mesh:C536058 semapv:UnspecifiedMatching MONDO:0009820 osteoporosis-pseudoglioma syndrome skos:exactMatch DOID:0060849 osteoporosis-pseudoglioma syndrome semapv:UnspecifiedMatching MONDO:0009820 osteoporosis-pseudoglioma syndrome skos:exactMatch MEDGEN:98480 semapv:UnspecifiedMatching MONDO:0009820 osteoporosis-pseudoglioma syndrome skos:exactMatch NCIT:C130998 Osteoporosis Pseudoglioma Syndrome semapv:UnspecifiedMatching MONDO:0009820 osteoporosis-pseudoglioma syndrome skos:exactMatch OMIM:259770 osteoporosis-pseudoglioma syndrome semapv:UnspecifiedMatching MONDO:0009820 osteoporosis-pseudoglioma syndrome skos:exactMatch Orphanet:2788 Osteoporosis-pseudoglioma syndrome semapv:UnspecifiedMatching MONDO:0009820 osteoporosis-pseudoglioma syndrome skos:exactMatch UMLS:C0432252 semapv:UnspecifiedMatching MONDO:0009820 osteoporosis-pseudoglioma syndrome skos:exactMatch mesh:C536063 semapv:UnspecifiedMatching MONDO:0009821 lethal osteosclerotic bone dysplasia skos:exactMatch MEDGEN:342416 semapv:UnspecifiedMatching MONDO:0009821 lethal osteosclerotic bone dysplasia skos:exactMatch OMIM:259775 raine syndrome semapv:UnspecifiedMatching MONDO:0009821 lethal osteosclerotic bone dysplasia skos:exactMatch Orphanet:1832 Osteosclerotic bone dysplasia semapv:UnspecifiedMatching MONDO:0009821 lethal osteosclerotic bone dysplasia skos:exactMatch UMLS:C1850106 semapv:UnspecifiedMatching MONDO:0009821 lethal osteosclerotic bone dysplasia skos:exactMatch icd11.foundation:1306493470 Lethal osteosclerotic bone dysplasia semapv:UnspecifiedMatching MONDO:0009821 lethal osteosclerotic bone dysplasia skos:exactMatch mesh:C535282 semapv:UnspecifiedMatching MONDO:0009821 lethal osteosclerotic bone dysplasia skos:exactMatch mesh:C564916 semapv:UnspecifiedMatching MONDO:0009822 otoonychoperoneal syndrome skos:exactMatch MEDGEN:376704 semapv:UnspecifiedMatching MONDO:0009822 otoonychoperoneal syndrome skos:exactMatch OMIM:259780 otoonychoperoneal syndrome semapv:UnspecifiedMatching MONDO:0009822 otoonychoperoneal syndrome skos:exactMatch Orphanet:2793 Otoonychoperoneal syndrome semapv:UnspecifiedMatching MONDO:0009822 otoonychoperoneal syndrome skos:exactMatch SCTID:441944007 semapv:UnspecifiedMatching MONDO:0009822 otoonychoperoneal syndrome skos:exactMatch UMLS:C1850105 semapv:UnspecifiedMatching MONDO:0009822 otoonychoperoneal syndrome skos:exactMatch mesh:C564912 semapv:UnspecifiedMatching MONDO:0009823 primary hyperoxaluria type 1 skos:exactMatch DOID:0111670 primary hyperoxaluria type 1 semapv:UnspecifiedMatching MONDO:0009823 primary hyperoxaluria type 1 skos:exactMatch MEDGEN:75658 semapv:UnspecifiedMatching MONDO:0009823 primary hyperoxaluria type 1 skos:exactMatch NCIT:C123212 Primary Hyperoxaluria Type I semapv:UnspecifiedMatching MONDO:0009823 primary hyperoxaluria type 1 skos:exactMatch OMIM:259900 hyperoxaluria, primary, type 1 semapv:UnspecifiedMatching MONDO:0009823 primary hyperoxaluria type 1 skos:exactMatch Orphanet:93598 Primary hyperoxaluria type 1 semapv:UnspecifiedMatching MONDO:0009823 primary hyperoxaluria type 1 skos:exactMatch SCTID:65520001 semapv:UnspecifiedMatching MONDO:0009823 primary hyperoxaluria type 1 skos:exactMatch UMLS:C0268164 semapv:UnspecifiedMatching MONDO:0009823 primary hyperoxaluria type 1 skos:exactMatch icd11.foundation:692812009 Primary hyperoxaluria type 1 semapv:UnspecifiedMatching MONDO:0009823 primary hyperoxaluria type 1 skos:exactMatch mesh:C536414 semapv:UnspecifiedMatching MONDO:0009824 primary hyperoxaluria type 2 skos:exactMatch DOID:0111671 primary hyperoxaluria type 2 semapv:UnspecifiedMatching MONDO:0009824 primary hyperoxaluria type 2 skos:exactMatch MEDGEN:120616 semapv:UnspecifiedMatching MONDO:0009824 primary hyperoxaluria type 2 skos:exactMatch NCIT:C123213 Primary Hyperoxaluria Type II semapv:UnspecifiedMatching MONDO:0009824 primary hyperoxaluria type 2 skos:exactMatch OMIM:260000 hyperoxaluria, primary, type 2 semapv:UnspecifiedMatching MONDO:0009824 primary hyperoxaluria type 2 skos:exactMatch Orphanet:93599 Primary hyperoxaluria type 2 semapv:UnspecifiedMatching MONDO:0009824 primary hyperoxaluria type 2 skos:exactMatch SCTID:40951006 semapv:UnspecifiedMatching MONDO:0009824 primary hyperoxaluria type 2 skos:exactMatch UMLS:C0268165 semapv:UnspecifiedMatching MONDO:0009824 primary hyperoxaluria type 2 skos:exactMatch icd11.foundation:347920969 Primary hyperoxaluria type 2 semapv:UnspecifiedMatching MONDO:0009824 primary hyperoxaluria type 2 skos:exactMatch mesh:C536415 semapv:UnspecifiedMatching MONDO:0009825 5-oxoprolinase deficiency skos:exactMatch MEDGEN:82814 semapv:UnspecifiedMatching MONDO:0009825 5-oxoprolinase deficiency skos:exactMatch OMIM:260005 5-oxoprolinase deficiency semapv:UnspecifiedMatching MONDO:0009825 5-oxoprolinase deficiency skos:exactMatch Orphanet:33572 5-oxoprolinase deficiency semapv:UnspecifiedMatching MONDO:0009825 5-oxoprolinase deficiency skos:exactMatch SCTID:26132002 semapv:UnspecifiedMatching MONDO:0009825 5-oxoprolinase deficiency skos:exactMatch UMLS:C0268525 semapv:UnspecifiedMatching MONDO:0009825 5-oxoprolinase deficiency skos:exactMatch mesh:C535322 semapv:UnspecifiedMatching MONDO:0009826 obsolete PA polymorphism of alpha-2-globulin skos:exactMatch OMIM:260100 pa polymorphism of alpha-2-globulin semapv:UnspecifiedMatching MONDO:0009826 obsolete PA polymorphism of alpha-2-globulin skos:exactMatch OMIM:314800 semapv:UnspecifiedMatching MONDO:0009826 obsolete PA polymorphism of alpha-2-globulin skos:exactMatch mesh:C009691 semapv:UnspecifiedMatching MONDO:0009827 obsolete pachyonychia congenita, autosomal recessive skos:exactMatch OMIM:260130 pachyonychia congenita, autosomal recessive semapv:UnspecifiedMatching MONDO:0009827 obsolete pachyonychia congenita, autosomal recessive skos:exactMatch mesh:C538094 semapv:UnspecifiedMatching MONDO:0009828 palant cleft palate syndrome skos:exactMatch MEDGEN:337971 semapv:UnspecifiedMatching MONDO:0009828 palant cleft palate syndrome skos:exactMatch OMIM:260150 palant cleft palate syndrome semapv:UnspecifiedMatching MONDO:0009828 palant cleft palate syndrome skos:exactMatch UMLS:C1850102 semapv:UnspecifiedMatching MONDO:0009828 palant cleft palate syndrome skos:exactMatch mesh:C538102 semapv:UnspecifiedMatching MONDO:0009829 obsolete pallidal degeneration, progressive, with retinitis pigmentosa skos:exactMatch OMIM:260200 pallidal degeneration, progressive, with retinitis pigmentosa semapv:UnspecifiedMatching MONDO:0009829 obsolete pallidal degeneration, progressive, with retinitis pigmentosa skos:exactMatch mesh:C564910 semapv:UnspecifiedMatching MONDO:0009830 parkinsonian-pyramidal syndrome skos:exactMatch DOID:0060372 Parkinson's disease 15 semapv:UnspecifiedMatching MONDO:0009830 parkinsonian-pyramidal syndrome skos:exactMatch MEDGEN:337969 semapv:UnspecifiedMatching MONDO:0009830 parkinsonian-pyramidal syndrome skos:exactMatch OMIM:260300 parkinson disease 15, autosomal recessive early-onset semapv:UnspecifiedMatching MONDO:0009830 parkinsonian-pyramidal syndrome skos:exactMatch Orphanet:171695 Parkinsonian-pyramidal syndrome semapv:UnspecifiedMatching MONDO:0009830 parkinsonian-pyramidal syndrome skos:exactMatch UMLS:C1850100 semapv:UnspecifiedMatching MONDO:0009830 parkinsonian-pyramidal syndrome skos:exactMatch icd11.foundation:1128311778 Parkinsonian-pyramidal syndrome semapv:UnspecifiedMatching MONDO:0009830 parkinsonian-pyramidal syndrome skos:exactMatch mesh:C538104 semapv:UnspecifiedMatching MONDO:0009831 malignant pancreatic neoplasm skos:exactMatch DOID:1793 pancreatic cancer semapv:UnspecifiedMatching MONDO:0009831 malignant pancreatic neoplasm skos:exactMatch EFO:1000359 semapv:UnspecifiedMatching MONDO:0009831 malignant pancreatic neoplasm skos:exactMatch ICD10CM:C25 Malignant neoplasm of pancreas semapv:UnspecifiedMatching MONDO:0009831 malignant pancreatic neoplasm skos:exactMatch MEDGEN:138068 semapv:UnspecifiedMatching MONDO:0009831 malignant pancreatic neoplasm skos:exactMatch NCIT:C9005 Malignant Pancreatic Neoplasm semapv:UnspecifiedMatching MONDO:0009831 malignant pancreatic neoplasm skos:exactMatch UMLS:C0346647 semapv:UnspecifiedMatching MONDO:0009831 malignant pancreatic neoplasm skos:exactMatch icd11.foundation:542147910 Malignant neoplasm of pancreas semapv:UnspecifiedMatching MONDO:0009832 pancreatic agenesis skos:exactMatch DOID:0050877 pancreatic agenesis semapv:UnspecifiedMatching MONDO:0009832 pancreatic agenesis skos:exactMatch MEDGEN:1681783 semapv:UnspecifiedMatching MONDO:0009832 pancreatic agenesis skos:exactMatch OMIMPS:260370 Pancreatic agenesis semapv:UnspecifiedMatching MONDO:0009832 pancreatic agenesis skos:exactMatch Orphanet:2805 Partial pancreatic agenesis semapv:UnspecifiedMatching MONDO:0009832 pancreatic agenesis skos:exactMatch SCTID:719044008 semapv:UnspecifiedMatching MONDO:0009832 pancreatic agenesis skos:exactMatch UMLS:C5195568 semapv:UnspecifiedMatching MONDO:0009832 pancreatic agenesis skos:exactMatch icd11.foundation:634711891 Partial agenesis of pancreas semapv:UnspecifiedMatching MONDO:0009832 pancreatic agenesis skos:exactMatch mesh:C564908 semapv:UnspecifiedMatching MONDO:0009833 Shwachman-Diamond syndrome skos:exactMatch DOID:0060479 Shwachman-Diamond syndrome semapv:UnspecifiedMatching MONDO:0009833 Shwachman-Diamond syndrome skos:exactMatch MEDGEN:124418 semapv:UnspecifiedMatching MONDO:0009833 Shwachman-Diamond syndrome skos:exactMatch NCIT:C61235 Shwachman-Diamond Syndrome semapv:UnspecifiedMatching MONDO:0009833 Shwachman-Diamond syndrome skos:exactMatch OMIMPS:260400 Schwachman-Diamond syndrome semapv:UnspecifiedMatching MONDO:0009833 Shwachman-Diamond syndrome skos:exactMatch Orphanet:811 Shwachman-Diamond syndrome semapv:UnspecifiedMatching MONDO:0009833 Shwachman-Diamond syndrome skos:exactMatch SCTID:89454001 semapv:UnspecifiedMatching MONDO:0009833 Shwachman-Diamond syndrome skos:exactMatch UMLS:C0272170 semapv:UnspecifiedMatching MONDO:0009833 Shwachman-Diamond syndrome skos:exactMatch icd11.foundation:232885463 Shwachman-Diamond syndrome semapv:UnspecifiedMatching MONDO:0009833 Shwachman-Diamond syndrome skos:exactMatch mesh:C537330 semapv:UnspecifiedMatching MONDO:0009835 subacute sclerosing panencephalitis skos:exactMatch DOID:8970 subacute sclerosing panencephalitis semapv:UnspecifiedMatching MONDO:0009835 subacute sclerosing panencephalitis skos:exactMatch EFO:0007502 semapv:UnspecifiedMatching MONDO:0009835 subacute sclerosing panencephalitis skos:exactMatch ICD10CM:A81.1 Subacute sclerosing panencephalitis semapv:UnspecifiedMatching MONDO:0009835 subacute sclerosing panencephalitis skos:exactMatch MEDGEN:52527 semapv:UnspecifiedMatching MONDO:0009835 subacute sclerosing panencephalitis skos:exactMatch NCIT:C85171 Subacute Sclerosing Panencephalitis semapv:UnspecifiedMatching MONDO:0009835 subacute sclerosing panencephalitis skos:exactMatch OMIM:260470 subacute sclerosing panencephalitis semapv:UnspecifiedMatching MONDO:0009835 subacute sclerosing panencephalitis skos:exactMatch Orphanet:2806 Subacute sclerosing leukoencephalitis semapv:UnspecifiedMatching MONDO:0009835 subacute sclerosing panencephalitis skos:exactMatch UMLS:C0038522 semapv:UnspecifiedMatching MONDO:0009835 subacute sclerosing panencephalitis skos:exactMatch icd11.foundation:1098683540 Subacute sclerosing panencephalitis semapv:UnspecifiedMatching MONDO:0009835 subacute sclerosing panencephalitis skos:exactMatch mesh:D013344 semapv:UnspecifiedMatching MONDO:0009836 pancreatitis, sclerosing cholangitis, and sicca complex skos:exactMatch MEDGEN:340461 semapv:UnspecifiedMatching MONDO:0009836 pancreatitis, sclerosing cholangitis, and sicca complex skos:exactMatch OMIM:260480 pancreatitis, sclerosing cholangitis, and sicca complex semapv:UnspecifiedMatching MONDO:0009836 pancreatitis, sclerosing cholangitis, and sicca complex skos:exactMatch UMLS:C1850080 semapv:UnspecifiedMatching MONDO:0009836 pancreatitis, sclerosing cholangitis, and sicca complex skos:exactMatch mesh:C564906 semapv:UnspecifiedMatching MONDO:0009837 choroid plexus papilloma skos:exactMatch DOID:2626 choroid plexus papilloma semapv:UnspecifiedMatching MONDO:0009837 choroid plexus papilloma skos:exactMatch MEDGEN:64439 semapv:UnspecifiedMatching MONDO:0009837 choroid plexus papilloma skos:exactMatch NCIT:C3698 Choroid Plexus Papilloma semapv:UnspecifiedMatching MONDO:0009837 choroid plexus papilloma skos:exactMatch OMIM:260500 papilloma of choroid plexus semapv:UnspecifiedMatching MONDO:0009837 choroid plexus papilloma skos:exactMatch Orphanet:2807 Papilloma of choroid plexus semapv:UnspecifiedMatching MONDO:0009837 choroid plexus papilloma skos:exactMatch SCTID:425868004 semapv:UnspecifiedMatching MONDO:0009837 choroid plexus papilloma skos:exactMatch UMLS:C0205770 semapv:UnspecifiedMatching MONDO:0009837 choroid plexus papilloma skos:exactMatch icd11.foundation:1696749652 Choroid plexus papilloma semapv:UnspecifiedMatching MONDO:0009837 choroid plexus papilloma skos:exactMatch mesh:D020288 semapv:UnspecifiedMatching MONDO:0009838 Parana hard-skin syndrome skos:exactMatch MEDGEN:337964 semapv:UnspecifiedMatching MONDO:0009838 Parana hard-skin syndrome skos:exactMatch NCIT:C126559 Hard Skin Syndrome Parana Type semapv:UnspecifiedMatching MONDO:0009838 Parana hard-skin syndrome skos:exactMatch OMIM:260530 parana hard-skin syndrome semapv:UnspecifiedMatching MONDO:0009838 Parana hard-skin syndrome skos:exactMatch Orphanet:2812 Parana hard skin syndrome semapv:UnspecifiedMatching MONDO:0009838 Parana hard-skin syndrome skos:exactMatch UMLS:C1850079 semapv:UnspecifiedMatching MONDO:0009838 Parana hard-skin syndrome skos:exactMatch mesh:C564905 semapv:UnspecifiedMatching MONDO:0009839 progressive supranuclear palsy-parkinsonism syndrome skos:exactMatch MEDGEN:342410 semapv:UnspecifiedMatching MONDO:0009839 progressive supranuclear palsy-parkinsonism syndrome skos:exactMatch OMIM:260540 parkinson-dementia syndrome semapv:UnspecifiedMatching MONDO:0009839 progressive supranuclear palsy-parkinsonism syndrome skos:exactMatch Orphanet:240085 Progressive supranuclear palsy-predominant parkinsonism syndrome semapv:UnspecifiedMatching MONDO:0009839 progressive supranuclear palsy-parkinsonism syndrome skos:exactMatch UMLS:C1850077 semapv:UnspecifiedMatching MONDO:0009839 progressive supranuclear palsy-parkinsonism syndrome skos:exactMatch mesh:C537240 semapv:UnspecifiedMatching MONDO:0009840 Partington-Anderson syndrome skos:exactMatch MEDGEN:376699 semapv:UnspecifiedMatching MONDO:0009840 Partington-Anderson syndrome skos:exactMatch OMIM:260555 partington-anderson syndrome semapv:UnspecifiedMatching MONDO:0009840 Partington-Anderson syndrome skos:exactMatch UMLS:C1850075 semapv:UnspecifiedMatching MONDO:0009840 Partington-Anderson syndrome skos:exactMatch mesh:C536299 semapv:UnspecifiedMatching MONDO:0009841 PEHO syndrome skos:exactMatch DOID:0080539 PEHO syndrome semapv:UnspecifiedMatching MONDO:0009841 PEHO syndrome skos:exactMatch MEDGEN:342404 semapv:UnspecifiedMatching MONDO:0009841 PEHO syndrome skos:exactMatch OMIM:260565 PEHO syndrome semapv:UnspecifiedMatching MONDO:0009841 PEHO syndrome skos:exactMatch Orphanet:2836 PEHO syndrome semapv:UnspecifiedMatching MONDO:0009841 PEHO syndrome skos:exactMatch UMLS:C1850055 semapv:UnspecifiedMatching MONDO:0009841 PEHO syndrome skos:exactMatch icd11.foundation:976613527 PEHO syndrome semapv:UnspecifiedMatching MONDO:0009841 PEHO syndrome skos:exactMatch mesh:C536317 semapv:UnspecifiedMatching MONDO:0009842 Pelger-Huet-like anomaly and episodic fever with abdominal pain skos:exactMatch DOID:0061077 immunodeficiency 108 semapv:UnspecifiedMatching MONDO:0009842 Pelger-Huet-like anomaly and episodic fever with abdominal pain skos:exactMatch MEDGEN:376692 semapv:UnspecifiedMatching MONDO:0009842 Pelger-Huet-like anomaly and episodic fever with abdominal pain skos:exactMatch OMIM:260570 immunodeficiency 108 with autoinflammation semapv:UnspecifiedMatching MONDO:0009842 Pelger-Huet-like anomaly and episodic fever with abdominal pain skos:exactMatch UMLS:C1850054 semapv:UnspecifiedMatching MONDO:0009842 Pelger-Huet-like anomaly and episodic fever with abdominal pain skos:exactMatch mesh:C564899 semapv:UnspecifiedMatching MONDO:0009843 hypomyelinating leukodystrophy 3 skos:exactMatch DOID:0060790 hypomyelinating leukodystrophy 3 semapv:UnspecifiedMatching MONDO:0009843 hypomyelinating leukodystrophy 3 skos:exactMatch MEDGEN:342403 semapv:UnspecifiedMatching MONDO:0009843 hypomyelinating leukodystrophy 3 skos:exactMatch OMIM:260600 leukodystrophy, hypomyelinating, 3 semapv:UnspecifiedMatching MONDO:0009843 hypomyelinating leukodystrophy 3 skos:exactMatch Orphanet:280293 Pelizaeus-Merzbacher-like disease due to AIMP1 mutation semapv:UnspecifiedMatching MONDO:0009843 hypomyelinating leukodystrophy 3 skos:exactMatch UMLS:C1850053 semapv:UnspecifiedMatching MONDO:0009843 hypomyelinating leukodystrophy 3 skos:exactMatch mesh:C536319 semapv:UnspecifiedMatching MONDO:0009844 pellagra-like syndrome skos:exactMatch MEDGEN:337955 semapv:UnspecifiedMatching MONDO:0009844 pellagra-like syndrome skos:exactMatch OMIM:260650 pellagra-like syndrome semapv:UnspecifiedMatching MONDO:0009844 pellagra-like syndrome skos:exactMatch UMLS:C1850052 semapv:UnspecifiedMatching MONDO:0009844 pellagra-like syndrome skos:exactMatch mesh:C538352 semapv:UnspecifiedMatching MONDO:0009845 pelviscapular dysplasia skos:exactMatch MEDGEN:342400 semapv:UnspecifiedMatching MONDO:0009845 pelviscapular dysplasia skos:exactMatch OMIM:260660 cousin syndrome semapv:UnspecifiedMatching MONDO:0009845 pelviscapular dysplasia skos:exactMatch Orphanet:93333 Pelviscapular dysplasia semapv:UnspecifiedMatching MONDO:0009845 pelviscapular dysplasia skos:exactMatch SCTID:719299009 semapv:UnspecifiedMatching MONDO:0009845 pelviscapular dysplasia skos:exactMatch UMLS:C1850040 semapv:UnspecifiedMatching MONDO:0009845 pelviscapular dysplasia skos:exactMatch mesh:C535550 semapv:UnspecifiedMatching MONDO:0009846 pentosuria skos:exactMatch DOID:0111258 pentosuria semapv:UnspecifiedMatching MONDO:0009846 pentosuria skos:exactMatch MEDGEN:78646 semapv:UnspecifiedMatching MONDO:0009846 pentosuria skos:exactMatch OMIM:260800 pentosuria semapv:UnspecifiedMatching MONDO:0009846 pentosuria skos:exactMatch Orphanet:2843 Pentosuria semapv:UnspecifiedMatching MONDO:0009846 pentosuria skos:exactMatch SCTID:190764000 semapv:UnspecifiedMatching MONDO:0009846 pentosuria skos:exactMatch UMLS:C0268162 semapv:UnspecifiedMatching MONDO:0009846 pentosuria skos:exactMatch mesh:C536652 semapv:UnspecifiedMatching MONDO:0009847 pericardial effusion, chronic skos:exactMatch MEDGEN:342399 semapv:UnspecifiedMatching MONDO:0009847 pericardial effusion, chronic skos:exactMatch OMIM:260900 pericardial effusion, chronic semapv:UnspecifiedMatching MONDO:0009847 pericardial effusion, chronic skos:exactMatch UMLS:C1850039 semapv:UnspecifiedMatching MONDO:0009847 pericardial effusion, chronic skos:exactMatch mesh:C564895 semapv:UnspecifiedMatching MONDO:0009848 dissecting cellulitis of the scalp skos:exactMatch MEDGEN:78097 semapv:UnspecifiedMatching MONDO:0009848 dissecting cellulitis of the scalp skos:exactMatch OMIM:260910 perifolliculitis capitis abscedens et suffodiens, familial semapv:UnspecifiedMatching MONDO:0009848 dissecting cellulitis of the scalp skos:exactMatch Orphanet:345 Dissecting cellulitis of the scalp semapv:UnspecifiedMatching MONDO:0009848 dissecting cellulitis of the scalp skos:exactMatch SCTID:77333008 semapv:UnspecifiedMatching MONDO:0009848 dissecting cellulitis of the scalp skos:exactMatch UMLS:C0263506 semapv:UnspecifiedMatching MONDO:0009848 dissecting cellulitis of the scalp skos:exactMatch icd11.foundation:872245808 Dissecting cellulitis semapv:UnspecifiedMatching MONDO:0009848 dissecting cellulitis of the scalp skos:exactMatch mesh:C562486 semapv:UnspecifiedMatching MONDO:0009849 hyperimmunoglobulinemia D with periodic fever skos:exactMatch DOID:0081450 hyperimmunoglobulinemia D periodic fever syndrome semapv:UnspecifiedMatching MONDO:0009849 hyperimmunoglobulinemia D with periodic fever skos:exactMatch MEDGEN:140768 semapv:UnspecifiedMatching MONDO:0009849 hyperimmunoglobulinemia D with periodic fever skos:exactMatch OMIM:260920 hyper-igd syndrome semapv:UnspecifiedMatching MONDO:0009849 hyperimmunoglobulinemia D with periodic fever skos:exactMatch Orphanet:343 Hyperimmunoglobulinemia D with periodic fever semapv:UnspecifiedMatching MONDO:0009849 hyperimmunoglobulinemia D with periodic fever skos:exactMatch UMLS:C0398691 semapv:UnspecifiedMatching MONDO:0009850 periodontitis, chronic, adult skos:exactMatch MEDGEN:120593 semapv:UnspecifiedMatching MONDO:0009850 periodontitis, chronic, adult skos:exactMatch OMIM:260950 periodontitis, chronic semapv:UnspecifiedMatching MONDO:0009850 periodontitis, chronic, adult skos:exactMatch SCTID:74797001 semapv:UnspecifiedMatching MONDO:0009850 periodontitis, chronic, adult skos:exactMatch UMLS:C0266929 semapv:UnspecifiedMatching MONDO:0009851 peripheral neuropathy, ataxia, focal necrotizing encephalopathy, and spongy degeneration of brain skos:exactMatch MEDGEN:342395 semapv:UnspecifiedMatching MONDO:0009851 peripheral neuropathy, ataxia, focal necrotizing encephalopathy, and spongy degeneration of brain skos:exactMatch OMIM:260970 peripheral neuropathy, ataxia, focal necrotizing encephalopathy, and spongy degeneration of brain semapv:UnspecifiedMatching MONDO:0009851 peripheral neuropathy, ataxia, focal necrotizing encephalopathy, and spongy degeneration of brain skos:exactMatch UMLS:C1850022 semapv:UnspecifiedMatching MONDO:0009851 peripheral neuropathy, ataxia, focal necrotizing encephalopathy, and spongy degeneration of brain skos:exactMatch mesh:C564894 semapv:UnspecifiedMatching MONDO:0009852 hereditary intrinsic factor deficiency skos:exactMatch DOID:0050734 congenital intrinsic factor deficiency semapv:UnspecifiedMatching MONDO:0009852 hereditary intrinsic factor deficiency skos:exactMatch MEDGEN:1876474 semapv:UnspecifiedMatching MONDO:0009852 hereditary intrinsic factor deficiency skos:exactMatch OMIM:261000 intrinsic factor deficiency semapv:UnspecifiedMatching MONDO:0009852 hereditary intrinsic factor deficiency skos:exactMatch Orphanet:332 Congenital intrinsic factor deficiency semapv:UnspecifiedMatching MONDO:0009852 hereditary intrinsic factor deficiency skos:exactMatch SCTID:60504009 semapv:UnspecifiedMatching MONDO:0009852 hereditary intrinsic factor deficiency skos:exactMatch UMLS:C2062370 semapv:UnspecifiedMatching MONDO:0009852 hereditary intrinsic factor deficiency skos:exactMatch mesh:C563242 semapv:UnspecifiedMatching MONDO:0009853 Imerslund-Grasbeck syndrome skos:exactMatch MEDGEN:1640347 semapv:UnspecifiedMatching MONDO:0009853 Imerslund-Grasbeck syndrome skos:exactMatch OMIMPS:261100 Imerslund-Grasbeck syndrome semapv:UnspecifiedMatching MONDO:0009853 Imerslund-Grasbeck syndrome skos:exactMatch Orphanet:35858 Imerslund-Gräsbeck syndrome semapv:UnspecifiedMatching MONDO:0009853 Imerslund-Grasbeck syndrome skos:exactMatch SCTID:360495000 semapv:UnspecifiedMatching MONDO:0009853 Imerslund-Grasbeck syndrome skos:exactMatch UMLS:C4551825 semapv:UnspecifiedMatching MONDO:0009853 Imerslund-Grasbeck syndrome skos:exactMatch icd11.foundation:375969525 Imerslund-Grasbeck syndrome semapv:UnspecifiedMatching MONDO:0009853 Imerslund-Grasbeck syndrome skos:exactMatch mesh:C538556 semapv:UnspecifiedMatching MONDO:0009854 peroneus tertius muscle, absence of skos:exactMatch MEDGEN:376684 semapv:UnspecifiedMatching MONDO:0009854 peroneus tertius muscle, absence of skos:exactMatch OMIM:261400 peroneus tertius muscle, absence of semapv:UnspecifiedMatching MONDO:0009854 peroneus tertius muscle, absence of skos:exactMatch UMLS:C1850001 semapv:UnspecifiedMatching MONDO:0009855 d-bifunctional protein deficiency skos:exactMatch DOID:0090031 D-bifunctional protein deficiency semapv:UnspecifiedMatching MONDO:0009855 d-bifunctional protein deficiency skos:exactMatch MEDGEN:137982 semapv:UnspecifiedMatching MONDO:0009855 d-bifunctional protein deficiency skos:exactMatch NCIT:C119676 D-Bifunctional Protein Deficiency semapv:UnspecifiedMatching MONDO:0009855 d-bifunctional protein deficiency skos:exactMatch OMIM:261515 d-bifunctional protein deficiency semapv:UnspecifiedMatching MONDO:0009855 d-bifunctional protein deficiency skos:exactMatch Orphanet:300 Bifunctional enzyme deficiency semapv:UnspecifiedMatching MONDO:0009855 d-bifunctional protein deficiency skos:exactMatch SCTID:238068007 semapv:UnspecifiedMatching MONDO:0009855 d-bifunctional protein deficiency skos:exactMatch UMLS:C0342870 semapv:UnspecifiedMatching MONDO:0009856 Peters plus syndrome skos:exactMatch DOID:0080201 Peters plus syndrome semapv:UnspecifiedMatching MONDO:0009856 Peters plus syndrome skos:exactMatch MEDGEN:163204 semapv:UnspecifiedMatching MONDO:0009856 Peters plus syndrome skos:exactMatch NCIT:C123436 Peters-Plus Syndrome semapv:UnspecifiedMatching MONDO:0009856 Peters plus syndrome skos:exactMatch OMIM:261540 peters-plus syndrome semapv:UnspecifiedMatching MONDO:0009856 Peters plus syndrome skos:exactMatch Orphanet:709 Peters plus syndrome semapv:UnspecifiedMatching MONDO:0009856 Peters plus syndrome skos:exactMatch SCTID:449817000 semapv:UnspecifiedMatching MONDO:0009856 Peters plus syndrome skos:exactMatch UMLS:C0796012 semapv:UnspecifiedMatching MONDO:0009856 Peters plus syndrome skos:exactMatch mesh:C537617 semapv:UnspecifiedMatching MONDO:0009857 persistent Mullerian duct syndrome skos:exactMatch DOID:0050791 persistent Mullerian duct syndrome semapv:UnspecifiedMatching MONDO:0009857 persistent Mullerian duct syndrome skos:exactMatch MEDGEN:342367 semapv:UnspecifiedMatching MONDO:0009857 persistent Mullerian duct syndrome skos:exactMatch NCIT:C120188 Persistent Mullerian Duct Syndrome semapv:UnspecifiedMatching MONDO:0009857 persistent Mullerian duct syndrome skos:exactMatch OMIM:261550 persistent mullerian duct syndrome, types 1 and 2 semapv:UnspecifiedMatching MONDO:0009857 persistent Mullerian duct syndrome skos:exactMatch Orphanet:2856 Persistent Müllerian duct syndrome semapv:UnspecifiedMatching MONDO:0009857 persistent Mullerian duct syndrome skos:exactMatch SCTID:702358005 semapv:UnspecifiedMatching MONDO:0009857 persistent Mullerian duct syndrome skos:exactMatch UMLS:C1849930 semapv:UnspecifiedMatching MONDO:0009857 persistent Mullerian duct syndrome skos:exactMatch icd11.foundation:697796373 Persistent Mullerian duct syndrome semapv:UnspecifiedMatching MONDO:0009857 persistent Mullerian duct syndrome skos:exactMatch mesh:C536665 semapv:UnspecifiedMatching MONDO:0009858 Pfeiffer-Palm-Teller syndrome skos:exactMatch MEDGEN:342366 semapv:UnspecifiedMatching MONDO:0009858 Pfeiffer-Palm-Teller syndrome skos:exactMatch OMIM:261560 pfeiffer-palm-teller syndrome semapv:UnspecifiedMatching MONDO:0009858 Pfeiffer-Palm-Teller syndrome skos:exactMatch Orphanet:2871 Pfeiffer-Palm-Teller syndrome semapv:UnspecifiedMatching MONDO:0009858 Pfeiffer-Palm-Teller syndrome skos:exactMatch SCTID:726672000 semapv:UnspecifiedMatching MONDO:0009858 Pfeiffer-Palm-Teller syndrome skos:exactMatch UMLS:C1849929 semapv:UnspecifiedMatching MONDO:0009858 Pfeiffer-Palm-Teller syndrome skos:exactMatch mesh:C537889 semapv:UnspecifiedMatching MONDO:0009859 PHAVER syndrome skos:exactMatch MEDGEN:376670 semapv:UnspecifiedMatching MONDO:0009859 PHAVER syndrome skos:exactMatch OMIM:261575 phaver syndrome semapv:UnspecifiedMatching MONDO:0009859 PHAVER syndrome skos:exactMatch Orphanet:2876 PHAVER syndrome semapv:UnspecifiedMatching MONDO:0009859 PHAVER syndrome skos:exactMatch SCTID:723453002 semapv:UnspecifiedMatching MONDO:0009859 PHAVER syndrome skos:exactMatch UMLS:C1849928 semapv:UnspecifiedMatching MONDO:0009859 PHAVER syndrome skos:exactMatch mesh:C538357 semapv:UnspecifiedMatching MONDO:0009860 phenformin 4-hydroxylation skos:exactMatch MEDGEN:342365 semapv:UnspecifiedMatching MONDO:0009860 phenformin 4-hydroxylation skos:exactMatch OMIM:261590 phenformin 4-hydroxylation semapv:UnspecifiedMatching MONDO:0009860 phenformin 4-hydroxylation skos:exactMatch UMLS:C1849927 semapv:UnspecifiedMatching MONDO:0009861 phenylketonuria skos:exactMatch DOID:9281 phenylketonuria semapv:UnspecifiedMatching MONDO:0009861 phenylketonuria skos:exactMatch MEDGEN:19244 semapv:UnspecifiedMatching MONDO:0009861 phenylketonuria skos:exactMatch NCIT:C81315 Phenylketonuria semapv:UnspecifiedMatching MONDO:0009861 phenylketonuria skos:exactMatch OMIM:261600 phenylketonuria semapv:UnspecifiedMatching MONDO:0009861 phenylketonuria skos:exactMatch Orphanet:716 Phenylketonuria semapv:UnspecifiedMatching MONDO:0009861 phenylketonuria skos:exactMatch SCTID:7573000 semapv:UnspecifiedMatching MONDO:0009861 phenylketonuria skos:exactMatch UMLS:C0031485 semapv:UnspecifiedMatching MONDO:0009861 phenylketonuria skos:exactMatch icd11.foundation:444122923 Phenylketonuria semapv:UnspecifiedMatching MONDO:0009861 phenylketonuria skos:exactMatch mesh:D010661 semapv:UnspecifiedMatching MONDO:0009862 dihydropteridine reductase deficiency skos:exactMatch DOID:0081130 BH4-deficient hyperphenylalaninemia C semapv:UnspecifiedMatching MONDO:0009862 dihydropteridine reductase deficiency skos:exactMatch MEDGEN:75682 semapv:UnspecifiedMatching MONDO:0009862 dihydropteridine reductase deficiency skos:exactMatch NCIT:C138173 Hyperphenylalaninemia, BH4-deficient C semapv:UnspecifiedMatching MONDO:0009862 dihydropteridine reductase deficiency skos:exactMatch OMIM:261630 hyperphenylalaninemia, bh4-deficient, c semapv:UnspecifiedMatching MONDO:0009862 dihydropteridine reductase deficiency skos:exactMatch Orphanet:226 Dihydropteridine reductase deficiency semapv:UnspecifiedMatching MONDO:0009862 dihydropteridine reductase deficiency skos:exactMatch SCTID:58256000 semapv:UnspecifiedMatching MONDO:0009862 dihydropteridine reductase deficiency skos:exactMatch UMLS:C0268465 semapv:UnspecifiedMatching MONDO:0009862 dihydropteridine reductase deficiency skos:exactMatch icd11.foundation:1931239861 Dihydropteridine reductase deficiency semapv:UnspecifiedMatching MONDO:0009863 BH4-deficient hyperphenylalaninemia A skos:exactMatch DOID:0090106 BH4-deficient hyperphenylalaninemia A semapv:UnspecifiedMatching MONDO:0009863 BH4-deficient hyperphenylalaninemia A skos:exactMatch MEDGEN:209234 semapv:UnspecifiedMatching MONDO:0009863 BH4-deficient hyperphenylalaninemia A skos:exactMatch NCIT:C138171 Hyperphenylalaninemia, BH4-deficient A semapv:UnspecifiedMatching MONDO:0009863 BH4-deficient hyperphenylalaninemia A skos:exactMatch OMIM:261640 hyperphenylalaninemia, bh4-deficient, a semapv:UnspecifiedMatching MONDO:0009863 BH4-deficient hyperphenylalaninemia A skos:exactMatch Orphanet:13 6-pyruvoyl-tetrahydropterin synthase deficiency semapv:UnspecifiedMatching MONDO:0009863 BH4-deficient hyperphenylalaninemia A skos:exactMatch SCTID:237914002 semapv:UnspecifiedMatching MONDO:0009863 BH4-deficient hyperphenylalaninemia A skos:exactMatch UMLS:C0878676 semapv:UnspecifiedMatching MONDO:0009863 BH4-deficient hyperphenylalaninemia A skos:exactMatch mesh:C535325 semapv:UnspecifiedMatching MONDO:0009864 phosphoenolpyruvate carboxykinase deficiency, mitochondrial skos:exactMatch MEDGEN:376665 semapv:UnspecifiedMatching MONDO:0009864 phosphoenolpyruvate carboxykinase deficiency, mitochondrial skos:exactMatch OMIM:261650 phosphoenolpyruvate carboxykinase deficiency, mitochondrial semapv:UnspecifiedMatching MONDO:0009864 phosphoenolpyruvate carboxykinase deficiency, mitochondrial skos:exactMatch UMLS:C1849821 semapv:UnspecifiedMatching MONDO:0009864 phosphoenolpyruvate carboxykinase deficiency, mitochondrial skos:exactMatch mesh:C564890 semapv:UnspecifiedMatching MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency skos:exactMatch MEDGEN:120613 semapv:UnspecifiedMatching MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency skos:exactMatch NCIT:C131647 Phosphoglycerate Mutase Deficiency semapv:UnspecifiedMatching MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency skos:exactMatch OMIM:261670 glycogen storage disease 10 semapv:UnspecifiedMatching MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency skos:exactMatch Orphanet:97234 Glycogen storage disease due to phosphoglycerate mutase deficiency semapv:UnspecifiedMatching MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency skos:exactMatch SCTID:61772003 semapv:UnspecifiedMatching MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency skos:exactMatch UMLS:C0268149 semapv:UnspecifiedMatching MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency skos:exactMatch mesh:C536176 semapv:UnspecifiedMatching MONDO:0009866 phosphoenolpyruvate carboxykinase deficiency, cytosolic skos:exactMatch MEDGEN:1801754 semapv:UnspecifiedMatching MONDO:0009866 phosphoenolpyruvate carboxykinase deficiency, cytosolic skos:exactMatch OMIM:261680 phosphoenolpyruvate carboxykinase deficiency, cytosolic semapv:UnspecifiedMatching MONDO:0009866 phosphoenolpyruvate carboxykinase deficiency, cytosolic skos:exactMatch UMLS:C5574905 semapv:UnspecifiedMatching MONDO:0009867 lethal congenital glycogen storage disease of heart skos:exactMatch DOID:0090101 lethal congenital glycogen storage disease of heart semapv:UnspecifiedMatching MONDO:0009867 lethal congenital glycogen storage disease of heart skos:exactMatch MEDGEN:337919 semapv:UnspecifiedMatching MONDO:0009867 lethal congenital glycogen storage disease of heart skos:exactMatch OMIM:261740 glycogen storage disease of heart, lethal congenital semapv:UnspecifiedMatching MONDO:0009867 lethal congenital glycogen storage disease of heart skos:exactMatch Orphanet:439854 Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease semapv:UnspecifiedMatching MONDO:0009867 lethal congenital glycogen storage disease of heart skos:exactMatch UMLS:C1849813 semapv:UnspecifiedMatching MONDO:0009867 lethal congenital glycogen storage disease of heart skos:exactMatch mesh:C564888 semapv:UnspecifiedMatching MONDO:0009868 glycogen storage disease IXb skos:exactMatch DOID:0111041 glycogen storage disease IXb semapv:UnspecifiedMatching MONDO:0009868 glycogen storage disease IXb skos:exactMatch MEDGEN:107772 semapv:UnspecifiedMatching MONDO:0009868 glycogen storage disease IXb skos:exactMatch OMIM:261750 glycogen storage disease ixb semapv:UnspecifiedMatching MONDO:0009868 glycogen storage disease IXb skos:exactMatch Orphanet:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency semapv:UnspecifiedMatching MONDO:0009868 glycogen storage disease IXb skos:exactMatch UMLS:C0543514 semapv:UnspecifiedMatching MONDO:0009868 glycogen storage disease IXb skos:exactMatch mesh:C563008 semapv:UnspecifiedMatching MONDO:0009869 isolated Pierre-Robin syndrome skos:exactMatch MEDGEN:19310 semapv:UnspecifiedMatching MONDO:0009869 isolated Pierre-Robin syndrome skos:exactMatch NCIT:C85010 Pierre Robin Syndrome semapv:UnspecifiedMatching MONDO:0009869 isolated Pierre-Robin syndrome skos:exactMatch OMIM:261800 pierre robin syndrome semapv:UnspecifiedMatching MONDO:0009869 isolated Pierre-Robin syndrome skos:exactMatch Orphanet:718 Isolated Pierre Robin sequence semapv:UnspecifiedMatching MONDO:0009869 isolated Pierre-Robin syndrome skos:exactMatch SCTID:4602007 semapv:UnspecifiedMatching MONDO:0009869 isolated Pierre-Robin syndrome skos:exactMatch UMLS:C0031900 semapv:UnspecifiedMatching MONDO:0009869 isolated Pierre-Robin syndrome skos:exactMatch icd11.foundation:136361299 Pierre Robin syndrome semapv:UnspecifiedMatching MONDO:0009869 isolated Pierre-Robin syndrome skos:exactMatch mesh:D010855 semapv:UnspecifiedMatching MONDO:0009870 pili torti skos:exactMatch MEDGEN:82670 semapv:UnspecifiedMatching MONDO:0009870 pili torti skos:exactMatch OMIM:261900 pili torti, early-onset semapv:UnspecifiedMatching MONDO:0009870 pili torti skos:exactMatch Orphanet:2889 Pili torti semapv:UnspecifiedMatching MONDO:0009870 pili torti skos:exactMatch SCTID:17170005 semapv:UnspecifiedMatching MONDO:0009870 pili torti skos:exactMatch UMLS:C0263491 semapv:UnspecifiedMatching MONDO:0009870 pili torti skos:exactMatch icd11.foundation:813238041 Pili torti semapv:UnspecifiedMatching MONDO:0009870 pili torti skos:exactMatch mesh:C562485 semapv:UnspecifiedMatching MONDO:0009871 pili torti-developmental delay-neurological abnormalities syndrome skos:exactMatch MEDGEN:342358 semapv:UnspecifiedMatching MONDO:0009871 pili torti-developmental delay-neurological abnormalities syndrome skos:exactMatch OMIM:261990 abnormal hair, joint laxity, and developmental delay semapv:UnspecifiedMatching MONDO:0009871 pili torti-developmental delay-neurological abnormalities syndrome skos:exactMatch Orphanet:2891 Pili torti-developmental delay-neurological abnormalities syndrome semapv:UnspecifiedMatching MONDO:0009871 pili torti-developmental delay-neurological abnormalities syndrome skos:exactMatch UMLS:C1849811 semapv:UnspecifiedMatching MONDO:0009871 pili torti-developmental delay-neurological abnormalities syndrome skos:exactMatch mesh:C537398 semapv:UnspecifiedMatching MONDO:0009872 Bjornstad syndrome skos:exactMatch DOID:0050677 Bjornstad syndrome semapv:UnspecifiedMatching MONDO:0009872 Bjornstad syndrome skos:exactMatch MEDGEN:82728 semapv:UnspecifiedMatching MONDO:0009872 Bjornstad syndrome skos:exactMatch OMIM:262000 bjornstad syndrome semapv:UnspecifiedMatching MONDO:0009872 Bjornstad syndrome skos:exactMatch Orphanet:123 Björnstad syndrome semapv:UnspecifiedMatching MONDO:0009872 Bjornstad syndrome skos:exactMatch UMLS:C0266006 semapv:UnspecifiedMatching MONDO:0009872 Bjornstad syndrome skos:exactMatch mesh:C537633 semapv:UnspecifiedMatching MONDO:0009873 pilodental dysplasia-refractive errors syndrome skos:exactMatch MEDGEN:376661 semapv:UnspecifiedMatching MONDO:0009873 pilodental dysplasia-refractive errors syndrome skos:exactMatch OMIM:262020 pilodental dysplasia with refractive errors semapv:UnspecifiedMatching MONDO:0009873 pilodental dysplasia-refractive errors syndrome skos:exactMatch Orphanet:2892 Pilodental dysplasia-refractive errors syndrome semapv:UnspecifiedMatching MONDO:0009873 pilodental dysplasia-refractive errors syndrome skos:exactMatch UMLS:C1849805 semapv:UnspecifiedMatching MONDO:0009873 pilodental dysplasia-refractive errors syndrome skos:exactMatch mesh:C535763 semapv:UnspecifiedMatching MONDO:0009874 Rabson-Mendenhall syndrome skos:exactMatch MEDGEN:78783 semapv:UnspecifiedMatching MONDO:0009874 Rabson-Mendenhall syndrome skos:exactMatch NCIT:C131000 Rabson-Mendenhall Syndrome semapv:UnspecifiedMatching MONDO:0009874 Rabson-Mendenhall syndrome skos:exactMatch OMIM:262190 pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities semapv:UnspecifiedMatching MONDO:0009874 Rabson-Mendenhall syndrome skos:exactMatch Orphanet:769 Rabson-Mendenhall syndrome semapv:UnspecifiedMatching MONDO:0009874 Rabson-Mendenhall syndrome skos:exactMatch SCTID:33559001 semapv:UnspecifiedMatching MONDO:0009874 Rabson-Mendenhall syndrome skos:exactMatch UMLS:C0271695 semapv:UnspecifiedMatching MONDO:0009874 Rabson-Mendenhall syndrome skos:exactMatch icd11.foundation:1018973126 Rabson-Mendenhall syndrome semapv:UnspecifiedMatching MONDO:0009875 achromatopsia 3 skos:exactMatch DOID:0110008 achromatopsia 3 semapv:UnspecifiedMatching MONDO:0009875 achromatopsia 3 skos:exactMatch MEDGEN:340413 semapv:UnspecifiedMatching MONDO:0009875 achromatopsia 3 skos:exactMatch OMIM:262300 achromatopsia 3 semapv:UnspecifiedMatching MONDO:0009875 achromatopsia 3 skos:exactMatch UMLS:C1849792 semapv:UnspecifiedMatching MONDO:0009876 isolated growth hormone deficiency type IA skos:exactMatch DOID:0060873 isolated growth hormone deficiency type IA semapv:UnspecifiedMatching MONDO:0009876 isolated growth hormone deficiency type IA skos:exactMatch MEDGEN:90986 semapv:UnspecifiedMatching MONDO:0009876 isolated growth hormone deficiency type IA skos:exactMatch OMIM:262400 isolated growth hormone deficiency, type 1a semapv:UnspecifiedMatching MONDO:0009876 isolated growth hormone deficiency type IA skos:exactMatch Orphanet:231662 Isolated growth hormone deficiency type IA semapv:UnspecifiedMatching MONDO:0009876 isolated growth hormone deficiency type IA skos:exactMatch SCTID:237837007 semapv:UnspecifiedMatching MONDO:0009876 isolated growth hormone deficiency type IA skos:exactMatch UMLS:C0342573 semapv:UnspecifiedMatching MONDO:0009876 isolated growth hormone deficiency type IA skos:exactMatch mesh:C537404 semapv:UnspecifiedMatching MONDO:0009877 Laron syndrome skos:exactMatch DOID:9521 Laron syndrome semapv:UnspecifiedMatching MONDO:0009877 Laron syndrome skos:exactMatch MEDGEN:78776 semapv:UnspecifiedMatching MONDO:0009877 Laron syndrome skos:exactMatch NCIT:C130994 Laron Syndrome semapv:UnspecifiedMatching MONDO:0009877 Laron syndrome skos:exactMatch OMIM:262500 laron syndrome semapv:UnspecifiedMatching MONDO:0009877 Laron syndrome skos:exactMatch Orphanet:633 Laron syndrome semapv:UnspecifiedMatching MONDO:0009877 Laron syndrome skos:exactMatch SCTID:38196001 semapv:UnspecifiedMatching MONDO:0009877 Laron syndrome skos:exactMatch UMLS:C0271568 semapv:UnspecifiedMatching MONDO:0009877 Laron syndrome skos:exactMatch mesh:D046150 semapv:UnspecifiedMatching MONDO:0009878 pituitary hormone deficiency, combined, 2 skos:exactMatch DOID:0061020 combined pituitary hormone deficiency 2 semapv:UnspecifiedMatching MONDO:0009878 pituitary hormone deficiency, combined, 2 skos:exactMatch MEDGEN:209236 semapv:UnspecifiedMatching MONDO:0009878 pituitary hormone deficiency, combined, 2 skos:exactMatch OMIM:262600 pituitary hormone deficiency, combined, 2 semapv:UnspecifiedMatching MONDO:0009878 pituitary hormone deficiency, combined, 2 skos:exactMatch UMLS:C0878683 semapv:UnspecifiedMatching MONDO:0009878 pituitary hormone deficiency, combined, 2 skos:exactMatch mesh:C563172 semapv:UnspecifiedMatching MONDO:0009879 short stature due to growth hormone qualitative anomaly skos:exactMatch MEDGEN:340412 semapv:UnspecifiedMatching MONDO:0009879 short stature due to growth hormone qualitative anomaly skos:exactMatch OMIM:262650 kowarski syndrome semapv:UnspecifiedMatching MONDO:0009879 short stature due to growth hormone qualitative anomaly skos:exactMatch Orphanet:629 Short stature due to growth hormone qualitative anomaly semapv:UnspecifiedMatching MONDO:0009879 short stature due to growth hormone qualitative anomaly skos:exactMatch UMLS:C1849779 semapv:UnspecifiedMatching MONDO:0009879 short stature due to growth hormone qualitative anomaly skos:exactMatch icd11.foundation:1665498704 Short stature due to growth hormone qualitative anomaly semapv:UnspecifiedMatching MONDO:0009879 short stature due to growth hormone qualitative anomaly skos:exactMatch mesh:C537505 semapv:UnspecifiedMatching MONDO:0009880 short stature-pituitary and cerebellar defects-small sella turcica syndrome skos:exactMatch DOID:0061017 combined pituitary hormone deficiency 4 semapv:UnspecifiedMatching MONDO:0009880 short stature-pituitary and cerebellar defects-small sella turcica syndrome skos:exactMatch MEDGEN:394816 semapv:UnspecifiedMatching MONDO:0009880 short stature-pituitary and cerebellar defects-small sella turcica syndrome skos:exactMatch OMIM:262700 pituitary hormone deficiency, combined, 4 semapv:UnspecifiedMatching MONDO:0009880 short stature-pituitary and cerebellar defects-small sella turcica syndrome skos:exactMatch Orphanet:85442 Short stature-pituitary and cerebellar defects-small sella turcica syndrome semapv:UnspecifiedMatching MONDO:0009880 short stature-pituitary and cerebellar defects-small sella turcica syndrome skos:exactMatch UMLS:C2678408 semapv:UnspecifiedMatching MONDO:0009880 short stature-pituitary and cerebellar defects-small sella turcica syndrome skos:exactMatch mesh:C567492 semapv:UnspecifiedMatching MONDO:0009881 pituitary dwarfism with large sella turcica skos:exactMatch MEDGEN:78778 semapv:UnspecifiedMatching MONDO:0009881 pituitary dwarfism with large sella turcica skos:exactMatch OMIM:262710 pituitary dwarfism with large sella turcica semapv:UnspecifiedMatching MONDO:0009881 pituitary dwarfism with large sella turcica skos:exactMatch SCTID:27270004 semapv:UnspecifiedMatching MONDO:0009881 pituitary dwarfism with large sella turcica skos:exactMatch UMLS:C0271575 semapv:UnspecifiedMatching MONDO:0009881 pituitary dwarfism with large sella turcica skos:exactMatch mesh:C562705 semapv:UnspecifiedMatching MONDO:0009882 plasma clot retraction factor, deficiency of skos:exactMatch MEDGEN:376656 semapv:UnspecifiedMatching MONDO:0009882 plasma clot retraction factor, deficiency of skos:exactMatch OMIM:262800 plasma clot retraction factor, deficiency of semapv:UnspecifiedMatching MONDO:0009882 plasma clot retraction factor, deficiency of skos:exactMatch UMLS:C1849778 semapv:UnspecifiedMatching MONDO:0009882 plasma clot retraction factor, deficiency of skos:exactMatch mesh:C564885 semapv:UnspecifiedMatching MONDO:0009883 alpha-2-plasmin inhibitor deficiency skos:exactMatch DOID:0060601 alpha-2-plasmin inhibitor deficiency semapv:UnspecifiedMatching MONDO:0009883 alpha-2-plasmin inhibitor deficiency skos:exactMatch MEDGEN:414178 semapv:UnspecifiedMatching MONDO:0009883 alpha-2-plasmin inhibitor deficiency skos:exactMatch OMIM:262850 alpha-2-plasmin inhibitor deficiency semapv:UnspecifiedMatching MONDO:0009883 alpha-2-plasmin inhibitor deficiency skos:exactMatch Orphanet:79 Congenital alpha2-antiplasmin deficiency semapv:UnspecifiedMatching MONDO:0009883 alpha-2-plasmin inhibitor deficiency skos:exactMatch SCTID:716746003 semapv:UnspecifiedMatching MONDO:0009883 alpha-2-plasmin inhibitor deficiency skos:exactMatch UMLS:C2752081 semapv:UnspecifiedMatching MONDO:0009883 alpha-2-plasmin inhibitor deficiency skos:exactMatch icd11.foundation:688627594 Congenital alpha-2 antiplasmin deficiency semapv:UnspecifiedMatching MONDO:0009883 alpha-2-plasmin inhibitor deficiency skos:exactMatch mesh:C537777 semapv:UnspecifiedMatching MONDO:0009884 platelet prostacyclin receptor defect skos:exactMatch MEDGEN:337912 semapv:UnspecifiedMatching MONDO:0009884 platelet prostacyclin receptor defect skos:exactMatch OMIM:262875 platelet prostacyclin receptor defect semapv:UnspecifiedMatching MONDO:0009884 platelet prostacyclin receptor defect skos:exactMatch UMLS:C1849774 semapv:UnspecifiedMatching MONDO:0009884 platelet prostacyclin receptor defect skos:exactMatch mesh:C564884 semapv:UnspecifiedMatching MONDO:0009885 Scott syndrome skos:exactMatch DOID:0111052 Scott syndrome semapv:UnspecifiedMatching MONDO:0009885 Scott syndrome skos:exactMatch MEDGEN:167107 semapv:UnspecifiedMatching MONDO:0009885 Scott syndrome skos:exactMatch OMIM:262890 scott syndrome semapv:UnspecifiedMatching MONDO:0009885 Scott syndrome skos:exactMatch Orphanet:806 Scott syndrome semapv:UnspecifiedMatching MONDO:0009885 Scott syndrome skos:exactMatch SCTID:128098009 semapv:UnspecifiedMatching MONDO:0009885 Scott syndrome skos:exactMatch UMLS:C0796149 semapv:UnspecifiedMatching MONDO:0009885 Scott syndrome skos:exactMatch icd11.foundation:186013982 Scott syndrome semapv:UnspecifiedMatching MONDO:0009885 Scott syndrome skos:exactMatch mesh:C563120 semapv:UnspecifiedMatching MONDO:0009886 pleoconial myopathy with salt craving skos:exactMatch MEDGEN:337911 semapv:UnspecifiedMatching MONDO:0009886 pleoconial myopathy with salt craving skos:exactMatch OMIM:262900 pleoconial myopathy with salt craving semapv:UnspecifiedMatching MONDO:0009886 pleoconial myopathy with salt craving skos:exactMatch UMLS:C1849773 semapv:UnspecifiedMatching MONDO:0009886 pleoconial myopathy with salt craving skos:exactMatch mesh:C564883 semapv:UnspecifiedMatching MONDO:0009887 desquamative interstitial pneumonia skos:exactMatch DOID:0050158 desquamative interstitial pneumonia semapv:UnspecifiedMatching MONDO:0009887 desquamative interstitial pneumonia skos:exactMatch ICD10CM:J84.117 Desquamative interstitial pneumonia semapv:UnspecifiedMatching MONDO:0009887 desquamative interstitial pneumonia skos:exactMatch MEDGEN:65962 semapv:UnspecifiedMatching MONDO:0009887 desquamative interstitial pneumonia skos:exactMatch NCIT:C35288 Desquamative Interstitial Pneumonia semapv:UnspecifiedMatching MONDO:0009887 desquamative interstitial pneumonia skos:exactMatch OMIM:263000 interstitial pneumonitis, desquamative, familial semapv:UnspecifiedMatching MONDO:0009887 desquamative interstitial pneumonia skos:exactMatch Orphanet:98852 Desquamative interstitial pneumonia semapv:UnspecifiedMatching MONDO:0009887 desquamative interstitial pneumonia skos:exactMatch SCTID:8549006 semapv:UnspecifiedMatching MONDO:0009887 desquamative interstitial pneumonia skos:exactMatch UMLS:C0238378 semapv:UnspecifiedMatching MONDO:0009887 desquamative interstitial pneumonia skos:exactMatch icd11.foundation:1620001155 Desquamative interstitial pneumonitis semapv:UnspecifiedMatching MONDO:0009887 desquamative interstitial pneumonia skos:exactMatch mesh:C562470 semapv:UnspecifiedMatching MONDO:0009888 polycystic kidney, cataract, and congenital blindness skos:exactMatch MEDGEN:337910 semapv:UnspecifiedMatching MONDO:0009888 polycystic kidney, cataract, and congenital blindness skos:exactMatch OMIM:263100 polycystic kidney, cataract, and congenital blindness semapv:UnspecifiedMatching MONDO:0009888 polycystic kidney, cataract, and congenital blindness skos:exactMatch UMLS:C1849771 semapv:UnspecifiedMatching MONDO:0009888 polycystic kidney, cataract, and congenital blindness skos:exactMatch mesh:C564882 semapv:UnspecifiedMatching MONDO:0009889 autosomal recessive polycystic kidney disease skos:exactMatch DOID:0110861 autosomal recessive polycystic kidney disease semapv:UnspecifiedMatching MONDO:0009889 autosomal recessive polycystic kidney disease skos:exactMatch MEDGEN:39076 semapv:UnspecifiedMatching MONDO:0009889 autosomal recessive polycystic kidney disease skos:exactMatch NCIT:C84579 Autosomal Recessive Polycystic Kidney Disease semapv:UnspecifiedMatching MONDO:0009889 autosomal recessive polycystic kidney disease skos:exactMatch Orphanet:731 Autosomal recessive polycystic kidney disease semapv:UnspecifiedMatching MONDO:0009889 autosomal recessive polycystic kidney disease skos:exactMatch SCTID:28770003 semapv:UnspecifiedMatching MONDO:0009889 autosomal recessive polycystic kidney disease skos:exactMatch UMLS:C0085548 semapv:UnspecifiedMatching MONDO:0009889 autosomal recessive polycystic kidney disease skos:exactMatch icd11.foundation:1424110943 Autosomal recessive polycystic kidney disease semapv:UnspecifiedMatching MONDO:0009890 Gillessen-Kaesbach-Nishimura syndrome skos:exactMatch MEDGEN:376653 semapv:UnspecifiedMatching MONDO:0009890 Gillessen-Kaesbach-Nishimura syndrome skos:exactMatch OMIM:263210 gillessen-kaesbach-nishimura syndrome semapv:UnspecifiedMatching MONDO:0009890 Gillessen-Kaesbach-Nishimura syndrome skos:exactMatch UMLS:C1849762 semapv:UnspecifiedMatching MONDO:0009890 Gillessen-Kaesbach-Nishimura syndrome skos:exactMatch mesh:C564881 semapv:UnspecifiedMatching MONDO:0009891 acquired polycythemia vera skos:exactMatch DOID:8997 polycythemia vera semapv:UnspecifiedMatching MONDO:0009891 acquired polycythemia vera skos:exactMatch EFO:0002429 semapv:UnspecifiedMatching MONDO:0009891 acquired polycythemia vera skos:exactMatch ICD10CM:D45 Polycythemia vera semapv:UnspecifiedMatching MONDO:0009891 acquired polycythemia vera skos:exactMatch MEDGEN:45996 semapv:UnspecifiedMatching MONDO:0009891 acquired polycythemia vera skos:exactMatch NCIT:C3336 Polycythemia Vera semapv:UnspecifiedMatching MONDO:0009891 acquired polycythemia vera skos:exactMatch OMIM:263300 polycythemia vera semapv:UnspecifiedMatching MONDO:0009891 acquired polycythemia vera skos:exactMatch Orphanet:729 Polycythemia vera semapv:UnspecifiedMatching MONDO:0009891 acquired polycythemia vera skos:exactMatch UMLS:C0032463 semapv:UnspecifiedMatching MONDO:0009891 acquired polycythemia vera skos:exactMatch icd11.foundation:818364947 Polycythaemia vera semapv:UnspecifiedMatching MONDO:0009891 acquired polycythemia vera skos:exactMatch mesh:D011087 semapv:UnspecifiedMatching MONDO:0009892 Chuvash polycythemia skos:exactMatch DOID:0060474 familial erythrocytosis 2 semapv:UnspecifiedMatching MONDO:0009892 Chuvash polycythemia skos:exactMatch MEDGEN:332974 semapv:UnspecifiedMatching MONDO:0009892 Chuvash polycythemia skos:exactMatch OMIM:263400 erythrocytosis, familial, 2 semapv:UnspecifiedMatching MONDO:0009892 Chuvash polycythemia skos:exactMatch Orphanet:238557 Chuvash erythrocytosis semapv:UnspecifiedMatching MONDO:0009892 Chuvash polycythemia skos:exactMatch UMLS:C1837915 semapv:UnspecifiedMatching MONDO:0009892 Chuvash polycythemia skos:exactMatch mesh:C563918 semapv:UnspecifiedMatching MONDO:0009893 polydactyly, postaxial, type A5 skos:exactMatch MEDGEN:763575 semapv:UnspecifiedMatching MONDO:0009893 polydactyly, postaxial, type A5 skos:exactMatch OMIM:263450 polydactyly, postaxial, type a5 semapv:UnspecifiedMatching MONDO:0009893 polydactyly, postaxial, type A5 skos:exactMatch UMLS:C3550661 semapv:UnspecifiedMatching MONDO:0009894 short-rib thoracic dysplasia 6 with or without polydactyly skos:exactMatch DOID:0110092 short-rib thoracic dysplasia 6 with or without polydactyly semapv:UnspecifiedMatching MONDO:0009894 short-rib thoracic dysplasia 6 with or without polydactyly skos:exactMatch MEDGEN:44252 semapv:UnspecifiedMatching MONDO:0009894 short-rib thoracic dysplasia 6 with or without polydactyly skos:exactMatch NCIT:C122654 Short-Rib Thoracic Dysplasia 6 with or without Polydactyly semapv:UnspecifiedMatching MONDO:0009894 short-rib thoracic dysplasia 6 with or without polydactyly skos:exactMatch OMIM:263520 short-rib thoracic dysplasia 6 with or without polydactyly semapv:UnspecifiedMatching MONDO:0009894 short-rib thoracic dysplasia 6 with or without polydactyly skos:exactMatch UMLS:C0024507 semapv:UnspecifiedMatching MONDO:0009895 postaxial polydactyly-dental and vertebral anomalies syndrome skos:exactMatch MEDGEN:342342 semapv:UnspecifiedMatching MONDO:0009895 postaxial polydactyly-dental and vertebral anomalies syndrome skos:exactMatch OMIM:263540 polydactyly, postaxial, with dental and vertebral anomalies semapv:UnspecifiedMatching MONDO:0009895 postaxial polydactyly-dental and vertebral anomalies syndrome skos:exactMatch Orphanet:2916 Postaxial polydactyly-dental and vertebral anomalies syndrome semapv:UnspecifiedMatching MONDO:0009895 postaxial polydactyly-dental and vertebral anomalies syndrome skos:exactMatch UMLS:C1849732 semapv:UnspecifiedMatching MONDO:0009895 postaxial polydactyly-dental and vertebral anomalies syndrome skos:exactMatch mesh:C564880 semapv:UnspecifiedMatching MONDO:0009896 polymyoclonus, infantile skos:exactMatch MEDGEN:376647 semapv:UnspecifiedMatching MONDO:0009896 polymyoclonus, infantile skos:exactMatch OMIM:263550 polymyoclonus, infantile semapv:UnspecifiedMatching MONDO:0009896 polymyoclonus, infantile skos:exactMatch UMLS:C1849731 semapv:UnspecifiedMatching MONDO:0009896 polymyoclonus, infantile skos:exactMatch mesh:C535524 semapv:UnspecifiedMatching MONDO:0009897 adult polyglucosan body disease skos:exactMatch MEDGEN:342338 semapv:UnspecifiedMatching MONDO:0009897 adult polyglucosan body disease skos:exactMatch OMIM:263570 polyglucosan body neuropathy, adult form semapv:UnspecifiedMatching MONDO:0009897 adult polyglucosan body disease skos:exactMatch Orphanet:206583 Adult polyglucosan body disease semapv:UnspecifiedMatching MONDO:0009897 adult polyglucosan body disease skos:exactMatch SCTID:721099001 semapv:UnspecifiedMatching MONDO:0009897 adult polyglucosan body disease skos:exactMatch UMLS:C1849722 semapv:UnspecifiedMatching MONDO:0009897 adult polyglucosan body disease skos:exactMatch mesh:C564878 semapv:UnspecifiedMatching MONDO:0009898 polysaccharide, storage of unusual skos:exactMatch MEDGEN:376645 semapv:UnspecifiedMatching MONDO:0009898 polysaccharide, storage of unusual skos:exactMatch OMIM:263600 polysaccharide, storage of unusual semapv:UnspecifiedMatching MONDO:0009898 polysaccharide, storage of unusual skos:exactMatch UMLS:C1849721 semapv:UnspecifiedMatching MONDO:0009898 polysaccharide, storage of unusual skos:exactMatch mesh:C564877 semapv:UnspecifiedMatching MONDO:0009899 polyhydramnios, chronic idiopathic skos:exactMatch MEDGEN:340402 semapv:UnspecifiedMatching MONDO:0009899 polyhydramnios, chronic idiopathic skos:exactMatch OMIM:263610 polyhydramnios, chronic idiopathic semapv:UnspecifiedMatching MONDO:0009899 polyhydramnios, chronic idiopathic skos:exactMatch UMLS:C1849720 semapv:UnspecifiedMatching MONDO:0009899 polyhydramnios, chronic idiopathic skos:exactMatch mesh:C564876 semapv:UnspecifiedMatching MONDO:0009900 polysyndactyly-cardiac malformation syndrome skos:exactMatch MEDGEN:337895 semapv:UnspecifiedMatching MONDO:0009900 polysyndactyly-cardiac malformation syndrome skos:exactMatch OMIM:263630 polysyndactyly with cardiac malformation semapv:UnspecifiedMatching MONDO:0009900 polysyndactyly-cardiac malformation syndrome skos:exactMatch Orphanet:2934 Polysyndactyly-cardiac malformation syndrome semapv:UnspecifiedMatching MONDO:0009900 polysyndactyly-cardiac malformation syndrome skos:exactMatch SCTID:724066002 semapv:UnspecifiedMatching MONDO:0009900 polysyndactyly-cardiac malformation syndrome skos:exactMatch UMLS:C1849719 semapv:UnspecifiedMatching MONDO:0009900 polysyndactyly-cardiac malformation syndrome skos:exactMatch mesh:C564875 semapv:UnspecifiedMatching MONDO:0009901 Bartsocas-Papas syndrome 1 skos:exactMatch MEDGEN:337894 semapv:UnspecifiedMatching MONDO:0009901 Bartsocas-Papas syndrome 1 skos:exactMatch NCIT:C168990 Bartsocas-Papas Syndrome semapv:UnspecifiedMatching MONDO:0009901 Bartsocas-Papas syndrome 1 skos:exactMatch OMIM:263650 bartsocas-papas syndrome 1 semapv:UnspecifiedMatching MONDO:0009901 Bartsocas-Papas syndrome 1 skos:exactMatch Orphanet:1234 Bartsocas-Papas syndrome semapv:UnspecifiedMatching MONDO:0009901 Bartsocas-Papas syndrome 1 skos:exactMatch SCTID:722376008 semapv:UnspecifiedMatching MONDO:0009901 Bartsocas-Papas syndrome 1 skos:exactMatch UMLS:C1849718 semapv:UnspecifiedMatching MONDO:0009901 Bartsocas-Papas syndrome 1 skos:exactMatch mesh:C564874 semapv:UnspecifiedMatching MONDO:0009902 cutaneous porphyria skos:exactMatch DOID:13271 cutaneous porphyria semapv:UnspecifiedMatching MONDO:0009902 cutaneous porphyria skos:exactMatch MEDGEN:1861084 semapv:UnspecifiedMatching MONDO:0009902 cutaneous porphyria skos:exactMatch NCIT:C84697 Erythropoietic Porphyria semapv:UnspecifiedMatching MONDO:0009902 cutaneous porphyria skos:exactMatch OMIM:263700 porphyria, congenital erythropoietic semapv:UnspecifiedMatching MONDO:0009902 cutaneous porphyria skos:exactMatch Orphanet:79277 Congenital erythropoietic porphyria semapv:UnspecifiedMatching MONDO:0009902 cutaneous porphyria skos:exactMatch SCTID:67312003 semapv:UnspecifiedMatching MONDO:0009902 cutaneous porphyria skos:exactMatch UMLS:C5886774 semapv:UnspecifiedMatching MONDO:0009902 cutaneous porphyria skos:exactMatch mesh:D017092 semapv:UnspecifiedMatching MONDO:0009903 postaxial acrofacial dysostosis skos:exactMatch DOID:0111259 postaxial acrofacial dysostosis semapv:UnspecifiedMatching MONDO:0009903 postaxial acrofacial dysostosis skos:exactMatch MEDGEN:120522 semapv:UnspecifiedMatching MONDO:0009903 postaxial acrofacial dysostosis skos:exactMatch OMIM:263750 miller syndrome semapv:UnspecifiedMatching MONDO:0009903 postaxial acrofacial dysostosis skos:exactMatch Orphanet:246 Postaxial acrofacial dysostosis semapv:UnspecifiedMatching MONDO:0009903 postaxial acrofacial dysostosis skos:exactMatch SCTID:66038001 semapv:UnspecifiedMatching MONDO:0009903 postaxial acrofacial dysostosis skos:exactMatch UMLS:C0265257 semapv:UnspecifiedMatching MONDO:0009903 postaxial acrofacial dysostosis skos:exactMatch icd11.foundation:70602060 Postaxial acrofacial dysostosis semapv:UnspecifiedMatching MONDO:0009903 postaxial acrofacial dysostosis skos:exactMatch mesh:C537680 semapv:UnspecifiedMatching MONDO:0009904 Gitelman syndrome skos:exactMatch DOID:0050450 Gitelman syndrome semapv:UnspecifiedMatching MONDO:0009904 Gitelman syndrome skos:exactMatch MEDGEN:75681 semapv:UnspecifiedMatching MONDO:0009904 Gitelman syndrome skos:exactMatch NCIT:C84730 Gitelman Syndrome semapv:UnspecifiedMatching MONDO:0009904 Gitelman syndrome skos:exactMatch OMIM:263800 gitelman syndrome semapv:UnspecifiedMatching MONDO:0009904 Gitelman syndrome skos:exactMatch Orphanet:358 Gitelman syndrome semapv:UnspecifiedMatching MONDO:0009904 Gitelman syndrome skos:exactMatch SCTID:707756004 semapv:UnspecifiedMatching MONDO:0009904 Gitelman syndrome skos:exactMatch UMLS:C0268450 semapv:UnspecifiedMatching MONDO:0009904 Gitelman syndrome skos:exactMatch mesh:D053579 semapv:UnspecifiedMatching MONDO:0009905 urban-Rogers-Meyer syndrome skos:exactMatch MEDGEN:162919 semapv:UnspecifiedMatching MONDO:0009905 urban-Rogers-Meyer syndrome skos:exactMatch OMIM:264010 prader-willi habitus, osteopenia, and camptodactyly semapv:UnspecifiedMatching MONDO:0009905 urban-Rogers-Meyer syndrome skos:exactMatch Orphanet:3409 Urban-Rogers-Meyer syndrome semapv:UnspecifiedMatching MONDO:0009905 urban-Rogers-Meyer syndrome skos:exactMatch SCTID:716334004 semapv:UnspecifiedMatching MONDO:0009905 urban-Rogers-Meyer syndrome skos:exactMatch UMLS:C0796189 semapv:UnspecifiedMatching MONDO:0009905 urban-Rogers-Meyer syndrome skos:exactMatch mesh:C538276 semapv:UnspecifiedMatching MONDO:0009906 prenatal bowing skos:exactMatch MEDGEN:337891 semapv:UnspecifiedMatching MONDO:0009906 prenatal bowing skos:exactMatch OMIM:264050 prenatal bowing semapv:UnspecifiedMatching MONDO:0009906 prenatal bowing skos:exactMatch UMLS:C1849701 semapv:UnspecifiedMatching MONDO:0009906 prenatal bowing skos:exactMatch mesh:C564873 semapv:UnspecifiedMatching MONDO:0009907 Prepapillary vascular loops skos:exactMatch MEDGEN:316814 semapv:UnspecifiedMatching MONDO:0009907 Prepapillary vascular loops skos:exactMatch OMIM:264060 prepapillary vascular loops semapv:UnspecifiedMatching MONDO:0009907 Prepapillary vascular loops skos:exactMatch SCTID:424728002 semapv:UnspecifiedMatching MONDO:0009907 Prepapillary vascular loops skos:exactMatch UMLS:C1828066 semapv:UnspecifiedMatching MONDO:0009907 Prepapillary vascular loops skos:exactMatch mesh:C563287 semapv:UnspecifiedMatching MONDO:0009908 pterin-4 alpha-carbinolamine dehydratase 1 deficiency skos:exactMatch DOID:0081131 BH4-deficient hyperphenylalaninemia D semapv:UnspecifiedMatching MONDO:0009908 pterin-4 alpha-carbinolamine dehydratase 1 deficiency skos:exactMatch MEDGEN:337890 semapv:UnspecifiedMatching MONDO:0009908 pterin-4 alpha-carbinolamine dehydratase 1 deficiency skos:exactMatch OMIM:264070 hyperphenylalaninemia, bh4-deficient, d semapv:UnspecifiedMatching MONDO:0009908 pterin-4 alpha-carbinolamine dehydratase 1 deficiency skos:exactMatch Orphanet:1578 Pterin-4 alpha-carbinolamine dehydratase deficiency semapv:UnspecifiedMatching MONDO:0009908 pterin-4 alpha-carbinolamine dehydratase 1 deficiency skos:exactMatch SCTID:124646004 semapv:UnspecifiedMatching MONDO:0009908 pterin-4 alpha-carbinolamine dehydratase 1 deficiency skos:exactMatch UMLS:C1849700 semapv:UnspecifiedMatching MONDO:0009908 pterin-4 alpha-carbinolamine dehydratase 1 deficiency skos:exactMatch mesh:C538382 semapv:UnspecifiedMatching MONDO:0009909 progesterone resistance skos:exactMatch MEDGEN:337889 semapv:UnspecifiedMatching MONDO:0009909 progesterone resistance skos:exactMatch OMIM:264080 progesterone resistance semapv:UnspecifiedMatching MONDO:0009909 progesterone resistance skos:exactMatch UMLS:C1849699 semapv:UnspecifiedMatching MONDO:0009909 progesterone resistance skos:exactMatch mesh:C564871 semapv:UnspecifiedMatching MONDO:0009910 Wiedemann-Rautenstrauch syndrome skos:exactMatch DOID:0081333 Wiedemann-Rautenstrauch syndrome semapv:UnspecifiedMatching MONDO:0009910 Wiedemann-Rautenstrauch syndrome skos:exactMatch MEDGEN:140806 semapv:UnspecifiedMatching MONDO:0009910 Wiedemann-Rautenstrauch syndrome skos:exactMatch NCIT:C121565 Neonatal Progeroid Syndrome semapv:UnspecifiedMatching MONDO:0009910 Wiedemann-Rautenstrauch syndrome skos:exactMatch OMIM:264090 wiedemann-rautenstrauch syndrome semapv:UnspecifiedMatching MONDO:0009910 Wiedemann-Rautenstrauch syndrome skos:exactMatch Orphanet:3455 Wiedemann-Rautenstrauch syndrome semapv:UnspecifiedMatching MONDO:0009910 Wiedemann-Rautenstrauch syndrome skos:exactMatch SCTID:238874008 semapv:UnspecifiedMatching MONDO:0009910 Wiedemann-Rautenstrauch syndrome skos:exactMatch UMLS:C0406586 semapv:UnspecifiedMatching MONDO:0009910 Wiedemann-Rautenstrauch syndrome skos:exactMatch mesh:C536423 semapv:UnspecifiedMatching MONDO:0009911 prolactin deficiency, isolated skos:exactMatch MEDGEN:75758 semapv:UnspecifiedMatching MONDO:0009911 prolactin deficiency, isolated skos:exactMatch OMIM:264110 prolactin deficiency, isolated semapv:UnspecifiedMatching MONDO:0009911 prolactin deficiency, isolated skos:exactMatch SCTID:67873006 semapv:UnspecifiedMatching MONDO:0009911 prolactin deficiency, isolated skos:exactMatch UMLS:C0271586 semapv:UnspecifiedMatching MONDO:0009911 prolactin deficiency, isolated skos:exactMatch mesh:C562708 semapv:UnspecifiedMatching MONDO:0009912 prolactin deficiency with obesity and enlarged testes skos:exactMatch MEDGEN:341515 semapv:UnspecifiedMatching MONDO:0009912 prolactin deficiency with obesity and enlarged testes skos:exactMatch OMIM:264120 prolactin deficiency with obesity and enlarged testes semapv:UnspecifiedMatching MONDO:0009912 prolactin deficiency with obesity and enlarged testes skos:exactMatch UMLS:C1849698 semapv:UnspecifiedMatching MONDO:0009912 prolactin deficiency with obesity and enlarged testes skos:exactMatch mesh:C564870 semapv:UnspecifiedMatching MONDO:0009913 prune belly syndrome with pulmonic stenosis, intellectual disability, and deafness skos:exactMatch MEDGEN:96043 semapv:UnspecifiedMatching MONDO:0009913 prune belly syndrome with pulmonic stenosis, intellectual disability, and deafness skos:exactMatch OMIM:264140 prune belly syndrome with pulmonic stenosis, impaired intellectual development, and deafness semapv:UnspecifiedMatching MONDO:0009913 prune belly syndrome with pulmonic stenosis, intellectual disability, and deafness skos:exactMatch SCTID:236529001 semapv:UnspecifiedMatching MONDO:0009913 prune belly syndrome with pulmonic stenosis, intellectual disability, and deafness skos:exactMatch UMLS:C0403551 semapv:UnspecifiedMatching MONDO:0009913 prune belly syndrome with pulmonic stenosis, intellectual disability, and deafness skos:exactMatch mesh:C562894 semapv:UnspecifiedMatching MONDO:0009914 pseudodiastrophic dysplasia skos:exactMatch MEDGEN:140924 semapv:UnspecifiedMatching MONDO:0009914 pseudodiastrophic dysplasia skos:exactMatch OMIM:264180 pseudodiastrophic dysplasia semapv:UnspecifiedMatching MONDO:0009914 pseudodiastrophic dysplasia skos:exactMatch Orphanet:85174 Pseudodiastrophic dysplasia semapv:UnspecifiedMatching MONDO:0009914 pseudodiastrophic dysplasia skos:exactMatch SCTID:254058002 semapv:UnspecifiedMatching MONDO:0009914 pseudodiastrophic dysplasia skos:exactMatch UMLS:C0432206 semapv:UnspecifiedMatching MONDO:0009914 pseudodiastrophic dysplasia skos:exactMatch icd11.foundation:902021042 Pseudodiastrophic dysplasia semapv:UnspecifiedMatching MONDO:0009914 pseudodiastrophic dysplasia skos:exactMatch mesh:C535826 semapv:UnspecifiedMatching MONDO:0009915 46,XX disorder of sex development-skeletal anomalies syndrome skos:exactMatch MEDGEN:341514 semapv:UnspecifiedMatching MONDO:0009915 46,XX disorder of sex development-skeletal anomalies syndrome skos:exactMatch OMIM:264270 pseudohermaphroditism, female, with skeletal anomalies semapv:UnspecifiedMatching MONDO:0009915 46,XX disorder of sex development-skeletal anomalies syndrome skos:exactMatch Orphanet:2975 46,XX difference of sex development-skeletal anomalies syndrome semapv:UnspecifiedMatching MONDO:0009915 46,XX disorder of sex development-skeletal anomalies syndrome skos:exactMatch UMLS:C1849696 semapv:UnspecifiedMatching MONDO:0009915 46,XX disorder of sex development-skeletal anomalies syndrome skos:exactMatch mesh:C564869 semapv:UnspecifiedMatching MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:exactMatch DOID:0112248 17-beta hydroxysteroid dehydrogenase 3 deficiency semapv:UnspecifiedMatching MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:exactMatch MEDGEN:120626 semapv:UnspecifiedMatching MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:exactMatch NCIT:C120203 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency semapv:UnspecifiedMatching MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:exactMatch OMIM:264300 17-beta hydroxysteroid dehydrogenase 3 deficiency semapv:UnspecifiedMatching MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:exactMatch Orphanet:752 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency semapv:UnspecifiedMatching MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:exactMatch SCTID:50658006 semapv:UnspecifiedMatching MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:exactMatch UMLS:C0268296 semapv:UnspecifiedMatching MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:exactMatch icd11.foundation:887793448 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency semapv:UnspecifiedMatching MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:exactMatch mesh:C537805 semapv:UnspecifiedMatching MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:exactMatch mesh:C564868 semapv:UnspecifiedMatching MONDO:0009917 pseudohypoaldosteronism, type IB1, autosomal recessive skos:exactMatch MEDGEN:1823950 semapv:UnspecifiedMatching MONDO:0009917 pseudohypoaldosteronism, type IB1, autosomal recessive skos:exactMatch OMIM:264350 pseudohypoaldosteronism, type ib1, autosomal recessive semapv:UnspecifiedMatching MONDO:0009917 pseudohypoaldosteronism, type IB1, autosomal recessive skos:exactMatch Orphanet:171876 Generalized pseudohypoaldosteronism type 1 semapv:UnspecifiedMatching MONDO:0009917 pseudohypoaldosteronism, type IB1, autosomal recessive skos:exactMatch UMLS:C5774176 semapv:UnspecifiedMatching MONDO:0009918 fundus dystrophy, pseudoinflammatory, recessive form skos:exactMatch MEDGEN:337888 semapv:UnspecifiedMatching MONDO:0009918 fundus dystrophy, pseudoinflammatory, recessive form skos:exactMatch OMIM:264420 fundus dystrophy, pseudoinflammatory, recessive form semapv:UnspecifiedMatching MONDO:0009918 fundus dystrophy, pseudoinflammatory, recessive form skos:exactMatch UMLS:C1849694 semapv:UnspecifiedMatching MONDO:0009918 fundus dystrophy, pseudoinflammatory, recessive form skos:exactMatch mesh:C535828 semapv:UnspecifiedMatching MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency skos:exactMatch DOID:0050797 peroxisomal acyl-CoA oxidase deficiency semapv:UnspecifiedMatching MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency skos:exactMatch MEDGEN:376636 semapv:UnspecifiedMatching MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency skos:exactMatch NCIT:C170437 Peroxisomal Acyl-CoA Oxidase Deficiency semapv:UnspecifiedMatching MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency skos:exactMatch OMIM:264470 peroxisomal acyl-coa oxidase deficiency semapv:UnspecifiedMatching MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency skos:exactMatch Orphanet:2971 Peroxisomal acyl-CoA oxidase deficiency semapv:UnspecifiedMatching MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency skos:exactMatch SCTID:238069004 semapv:UnspecifiedMatching MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency skos:exactMatch UMLS:C1849678 semapv:UnspecifiedMatching MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency skos:exactMatch icd11.foundation:927825451 Peroxisomal acyl-CoA oxidase deficiency semapv:UnspecifiedMatching MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency skos:exactMatch mesh:C536662 semapv:UnspecifiedMatching MONDO:0009920 Acrootoocular syndrome skos:exactMatch MEDGEN:337882 semapv:UnspecifiedMatching MONDO:0009920 Acrootoocular syndrome skos:exactMatch OMIM:264475 pseudopapilledema, ocular hypotelorism, blepharophimosis, and hand anomalies semapv:UnspecifiedMatching MONDO:0009920 Acrootoocular syndrome skos:exactMatch Orphanet:2980 Acrootoocular syndrome semapv:UnspecifiedMatching MONDO:0009920 Acrootoocular syndrome skos:exactMatch SCTID:720410001 semapv:UnspecifiedMatching MONDO:0009920 Acrootoocular syndrome skos:exactMatch UMLS:C1849661 semapv:UnspecifiedMatching MONDO:0009920 Acrootoocular syndrome skos:exactMatch mesh:C564866 semapv:UnspecifiedMatching MONDO:0009921 holoprosencephaly-postaxial polydactyly syndrome skos:exactMatch MEDGEN:340382 semapv:UnspecifiedMatching MONDO:0009921 holoprosencephaly-postaxial polydactyly syndrome skos:exactMatch NCIT:C125418 Pseudotrisomy 13 Syndrome semapv:UnspecifiedMatching MONDO:0009921 holoprosencephaly-postaxial polydactyly syndrome skos:exactMatch OMIM:264480 pseudotrisomy 13 syndrome semapv:UnspecifiedMatching MONDO:0009921 holoprosencephaly-postaxial polydactyly syndrome skos:exactMatch Orphanet:2166 Holoprosencephaly-postaxial polydactyly syndrome semapv:UnspecifiedMatching MONDO:0009921 holoprosencephaly-postaxial polydactyly syndrome skos:exactMatch SCTID:716091000 semapv:UnspecifiedMatching MONDO:0009921 holoprosencephaly-postaxial polydactyly syndrome skos:exactMatch UMLS:C1849649 semapv:UnspecifiedMatching MONDO:0009921 holoprosencephaly-postaxial polydactyly syndrome skos:exactMatch mesh:C535829 semapv:UnspecifiedMatching MONDO:0009922 Pseudouridinuria and mental defect skos:exactMatch MEDGEN:376629 semapv:UnspecifiedMatching MONDO:0009922 Pseudouridinuria and mental defect skos:exactMatch OMIM:264500 pseudouridinuria and mental defect semapv:UnspecifiedMatching MONDO:0009922 Pseudouridinuria and mental defect skos:exactMatch UMLS:C1849648 semapv:UnspecifiedMatching MONDO:0009922 Pseudouridinuria and mental defect skos:exactMatch mesh:C564864 semapv:UnspecifiedMatching MONDO:0009923 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency skos:exactMatch MEDGEN:75667 semapv:UnspecifiedMatching MONDO:0009923 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency skos:exactMatch NCIT:C98699 5 Alpha Steroid Reductase 2 Deficiency semapv:UnspecifiedMatching MONDO:0009923 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency skos:exactMatch OMIM:264600 pseudovaginal perineoscrotal hypospadias semapv:UnspecifiedMatching MONDO:0009923 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency skos:exactMatch Orphanet:753 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency semapv:UnspecifiedMatching MONDO:0009923 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency skos:exactMatch SCTID:57514000 semapv:UnspecifiedMatching MONDO:0009923 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency skos:exactMatch UMLS:C0268297 semapv:UnspecifiedMatching MONDO:0009923 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency skos:exactMatch icd11.foundation:1028755501 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency semapv:UnspecifiedMatching MONDO:0009923 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency skos:exactMatch mesh:C535830 semapv:UnspecifiedMatching MONDO:0009924 vitamin D-dependent rickets, type 1 skos:exactMatch MEDGEN:124344 semapv:UnspecifiedMatching MONDO:0009924 vitamin D-dependent rickets, type 1 skos:exactMatch NCIT:C131073 Vitamin D 1 Alpha-Hydroxylase Deficiency semapv:UnspecifiedMatching MONDO:0009924 vitamin D-dependent rickets, type 1 skos:exactMatch Orphanet:289157 Hypocalcemic vitamin D-dependent rickets semapv:UnspecifiedMatching MONDO:0009924 vitamin D-dependent rickets, type 1 skos:exactMatch SCTID:67049004 semapv:UnspecifiedMatching MONDO:0009924 vitamin D-dependent rickets, type 1 skos:exactMatch UMLS:C0268689 semapv:UnspecifiedMatching MONDO:0009924 vitamin D-dependent rickets, type 1 skos:exactMatch icd11.foundation:1270705227 Hypocalcaemic vitamin D dependent rickets semapv:UnspecifiedMatching MONDO:0009924 vitamin D-dependent rickets, type 1 skos:exactMatch mesh:C562688 semapv:UnspecifiedMatching MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum skos:exactMatch DOID:2738 pseudoxanthoma elasticum semapv:UnspecifiedMatching MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum skos:exactMatch NCIT:C85036 Pseudoxanthoma Elasticum semapv:UnspecifiedMatching MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum skos:exactMatch OMIM:264800 pseudoxanthoma elasticum semapv:UnspecifiedMatching MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum skos:exactMatch Orphanet:758 Pseudoxanthoma elasticum semapv:UnspecifiedMatching MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum skos:exactMatch SCTID:402782006 semapv:UnspecifiedMatching MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum skos:exactMatch SCTID:72744008 semapv:UnspecifiedMatching MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum skos:exactMatch icd11.foundation:1516160852 Pseudoxanthoma elasticum semapv:UnspecifiedMatching MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum skos:exactMatch mesh:D011561 semapv:UnspecifiedMatching MONDO:0009926 autosomal recessive multiple pterygium syndrome skos:exactMatch MEDGEN:82696 semapv:UnspecifiedMatching MONDO:0009926 autosomal recessive multiple pterygium syndrome skos:exactMatch NCIT:C101039 Escobar Syndrome semapv:UnspecifiedMatching MONDO:0009926 autosomal recessive multiple pterygium syndrome skos:exactMatch OMIM:265000 multiple pterygium syndrome, escobar variant semapv:UnspecifiedMatching MONDO:0009926 autosomal recessive multiple pterygium syndrome skos:exactMatch Orphanet:2990 Autosomal recessive multiple pterygium syndrome semapv:UnspecifiedMatching MONDO:0009926 autosomal recessive multiple pterygium syndrome skos:exactMatch SCTID:80773006 semapv:UnspecifiedMatching MONDO:0009926 autosomal recessive multiple pterygium syndrome skos:exactMatch UMLS:C0265261 semapv:UnspecifiedMatching MONDO:0009926 autosomal recessive multiple pterygium syndrome skos:exactMatch icd11.foundation:1502158121 Autosomal recessive multiple pterygium syndrome semapv:UnspecifiedMatching MONDO:0009927 3MC syndrome 2 skos:exactMatch DOID:0060576 3MC syndrome 2 semapv:UnspecifiedMatching MONDO:0009927 3MC syndrome 2 skos:exactMatch EFO:1001977 semapv:UnspecifiedMatching MONDO:0009927 3MC syndrome 2 skos:exactMatch MEDGEN:167115 semapv:UnspecifiedMatching MONDO:0009927 3MC syndrome 2 skos:exactMatch OMIM:265050 3mc syndrome 2 semapv:UnspecifiedMatching MONDO:0009927 3MC syndrome 2 skos:exactMatch UMLS:C0796279 semapv:UnspecifiedMatching MONDO:0009927 3MC syndrome 2 skos:exactMatch mesh:C535586 semapv:UnspecifiedMatching MONDO:0009928 pulmonary alveolar microlithiasis skos:exactMatch DOID:12117 pulmonary alveolar microlithiasis semapv:UnspecifiedMatching MONDO:0009928 pulmonary alveolar microlithiasis skos:exactMatch ICD10CM:J84.02 Pulmonary alveolar microlithiasis semapv:UnspecifiedMatching MONDO:0009928 pulmonary alveolar microlithiasis skos:exactMatch MEDGEN:56374 semapv:UnspecifiedMatching MONDO:0009928 pulmonary alveolar microlithiasis skos:exactMatch OMIM:265100 pulmonary alveolar microlithiasis semapv:UnspecifiedMatching MONDO:0009928 pulmonary alveolar microlithiasis skos:exactMatch Orphanet:60025 Pulmonary alveolar microlithiasis semapv:UnspecifiedMatching MONDO:0009928 pulmonary alveolar microlithiasis skos:exactMatch SCTID:87153008 semapv:UnspecifiedMatching MONDO:0009928 pulmonary alveolar microlithiasis skos:exactMatch UMLS:C0155912 semapv:UnspecifiedMatching MONDO:0009928 pulmonary alveolar microlithiasis skos:exactMatch icd11.foundation:1220010076 Pulmonary alveolar microlithiasis semapv:UnspecifiedMatching MONDO:0009928 pulmonary alveolar microlithiasis skos:exactMatch mesh:C562405 semapv:UnspecifiedMatching MONDO:0009929 surfactant metabolism dysfunction, pulmonary, 1 skos:exactMatch MEDGEN:368844 semapv:UnspecifiedMatching MONDO:0009929 surfactant metabolism dysfunction, pulmonary, 1 skos:exactMatch OMIM:265120 surfactant metabolism dysfunction, pulmonary, 1 semapv:UnspecifiedMatching MONDO:0009929 surfactant metabolism dysfunction, pulmonary, 1 skos:exactMatch Orphanet:217563 Neonatal acute respiratory distress syndrome semapv:UnspecifiedMatching MONDO:0009929 surfactant metabolism dysfunction, pulmonary, 1 skos:exactMatch UMLS:C1968602 semapv:UnspecifiedMatching MONDO:0009929 surfactant metabolism dysfunction, pulmonary, 1 skos:exactMatch mesh:C566882 semapv:UnspecifiedMatching MONDO:0009930 obsolete pulmonary arteriovenous malformation skos:exactMatch NCIT:C99029 Pulmonary Arteriovenous Fistula semapv:UnspecifiedMatching MONDO:0009930 obsolete pulmonary arteriovenous malformation skos:exactMatch OMIM:265140 pulmonary arteriovenous fistulas semapv:UnspecifiedMatching MONDO:0009930 obsolete pulmonary arteriovenous malformation skos:exactMatch Orphanet:2038 Pulmonary arteriovenous malformation semapv:UnspecifiedMatching MONDO:0009930 obsolete pulmonary arteriovenous malformation skos:exactMatch SCTID:303070000 semapv:UnspecifiedMatching MONDO:0009930 obsolete pulmonary arteriovenous malformation skos:exactMatch icd11.foundation:913404991 Pulmonary arteriovenous fistula semapv:UnspecifiedMatching MONDO:0009930 obsolete pulmonary arteriovenous malformation skos:exactMatch mesh:C562404 semapv:UnspecifiedMatching MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome skos:exactMatch MEDGEN:87491 semapv:UnspecifiedMatching MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome skos:exactMatch NCIT:C99032 Pulmonary Valve Atresia with Intact Ventricular Septum semapv:UnspecifiedMatching MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome skos:exactMatch OMIM:265150 pulmonary atresia with intact ventricular septum semapv:UnspecifiedMatching MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome skos:exactMatch Orphanet:1208 Pulmonary atresia-intact ventricular septum syndrome semapv:UnspecifiedMatching MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome skos:exactMatch SCTID:253590009 semapv:UnspecifiedMatching MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome skos:exactMatch UMLS:C0344975 semapv:UnspecifiedMatching MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome skos:exactMatch icd11.foundation:131289265 Pulmonary atresia with intact ventricular septum semapv:UnspecifiedMatching MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome skos:exactMatch mesh:C562832 semapv:UnspecifiedMatching MONDO:0009932 pulmonary bullae causing pneumothorax skos:exactMatch MEDGEN:337856 semapv:UnspecifiedMatching MONDO:0009932 pulmonary bullae causing pneumothorax skos:exactMatch OMIM:265200 pulmonary bullae causing pneumothorax semapv:UnspecifiedMatching MONDO:0009932 pulmonary bullae causing pneumothorax skos:exactMatch UMLS:C1849566 semapv:UnspecifiedMatching MONDO:0009932 pulmonary bullae causing pneumothorax skos:exactMatch mesh:C564863 semapv:UnspecifiedMatching MONDO:0009933 congenital pulmonary lymphangiectasia skos:exactMatch MEDGEN:340355 semapv:UnspecifiedMatching MONDO:0009933 congenital pulmonary lymphangiectasia skos:exactMatch NCIT:C99034 Congenital Pulmonary Lymphangiectasia semapv:UnspecifiedMatching MONDO:0009933 congenital pulmonary lymphangiectasia skos:exactMatch OMIM:265300 lymphangiectasia, pulmonary, congenital semapv:UnspecifiedMatching MONDO:0009933 congenital pulmonary lymphangiectasia skos:exactMatch Orphanet:2414 Congenital pulmonary lymphangiectasia semapv:UnspecifiedMatching MONDO:0009933 congenital pulmonary lymphangiectasia skos:exactMatch SCTID:45142002 semapv:UnspecifiedMatching MONDO:0009933 congenital pulmonary lymphangiectasia skos:exactMatch UMLS:C1849554 semapv:UnspecifiedMatching MONDO:0009933 congenital pulmonary lymphangiectasia skos:exactMatch icd11.foundation:2069435755 Congenital pulmonary lymphangiectasia semapv:UnspecifiedMatching MONDO:0009933 congenital pulmonary lymphangiectasia skos:exactMatch mesh:C537727 semapv:UnspecifiedMatching MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins skos:exactMatch DOID:13042 persistent fetal circulation syndrome semapv:UnspecifiedMatching MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins skos:exactMatch MEDGEN:755478 semapv:UnspecifiedMatching MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins skos:exactMatch NCIT:C98809 Alveolar Capillary Dysplasia semapv:UnspecifiedMatching MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins skos:exactMatch OMIM:265380 alveolar capillary dysplasia with misalignment of pulmonary veins semapv:UnspecifiedMatching MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins skos:exactMatch Orphanet:210122 Congenital alveolar capillary dysplasia semapv:UnspecifiedMatching MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins skos:exactMatch SCTID:447275002 semapv:UnspecifiedMatching MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins skos:exactMatch UMLS:C2960310 semapv:UnspecifiedMatching MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins skos:exactMatch mesh:C536590 semapv:UnspecifiedMatching MONDO:0009935 pulmonary hypertension, primary, 5 skos:exactMatch MEDGEN:1802382 semapv:UnspecifiedMatching MONDO:0009935 pulmonary hypertension, primary, 5 skos:exactMatch OMIM:265400 pulmonary hypertension, primary, 5 semapv:UnspecifiedMatching MONDO:0009935 pulmonary hypertension, primary, 5 skos:exactMatch UMLS:C5676877 semapv:UnspecifiedMatching MONDO:0009935 pulmonary hypertension, primary, 5 skos:exactMatch mesh:C564862 semapv:UnspecifiedMatching MONDO:0009936 familial primary pulmonary hypoplasia skos:exactMatch MEDGEN:141589 semapv:UnspecifiedMatching MONDO:0009936 familial primary pulmonary hypoplasia skos:exactMatch OMIM:265430 pulmonary hypoplasia, primary semapv:UnspecifiedMatching MONDO:0009936 familial primary pulmonary hypoplasia skos:exactMatch Orphanet:2257 Primary pulmonary hypoplasia semapv:UnspecifiedMatching MONDO:0009936 familial primary pulmonary hypoplasia skos:exactMatch SCTID:277656005 semapv:UnspecifiedMatching MONDO:0009936 familial primary pulmonary hypoplasia skos:exactMatch UMLS:C0456891 semapv:UnspecifiedMatching MONDO:0009936 familial primary pulmonary hypoplasia skos:exactMatch icd11.foundation:1778475393 Congenital hypoplasia of lung semapv:UnspecifiedMatching MONDO:0009937 pulmonary venoocclusive disease skos:exactMatch DOID:5453 pulmonary venoocclusive disease semapv:UnspecifiedMatching MONDO:0009937 pulmonary venoocclusive disease skos:exactMatch MEDGEN:18769 semapv:UnspecifiedMatching MONDO:0009937 pulmonary venoocclusive disease skos:exactMatch NCIT:C85039 Pulmonary Veno-Occlusive Disease semapv:UnspecifiedMatching MONDO:0009937 pulmonary venoocclusive disease skos:exactMatch OMIMPS:265450 Pulmonary venoocclusive disease semapv:UnspecifiedMatching MONDO:0009937 pulmonary venoocclusive disease skos:exactMatch Orphanet:31837 Pulmonary venoocclusive disease semapv:UnspecifiedMatching MONDO:0009937 pulmonary venoocclusive disease skos:exactMatch SCTID:89420002 semapv:UnspecifiedMatching MONDO:0009937 pulmonary venoocclusive disease skos:exactMatch UMLS:C0034091 semapv:UnspecifiedMatching MONDO:0009937 pulmonary venoocclusive disease skos:exactMatch icd11.foundation:1368993024 Pulmonary veno-occlusive disease semapv:UnspecifiedMatching MONDO:0009937 pulmonary venoocclusive disease skos:exactMatch mesh:D011668 semapv:UnspecifiedMatching MONDO:0009938 pulmonic stenosis skos:exactMatch MEDGEN:408291 semapv:UnspecifiedMatching MONDO:0009938 pulmonic stenosis skos:exactMatch OMIM:265500 pulmonic stenosis semapv:UnspecifiedMatching MONDO:0009938 pulmonic stenosis skos:exactMatch UMLS:C1956257 semapv:UnspecifiedMatching MONDO:0009939 pulmonic stenosis and congenital nephrosis skos:exactMatch MEDGEN:96044 semapv:UnspecifiedMatching MONDO:0009939 pulmonic stenosis and congenital nephrosis skos:exactMatch OMIM:265600 pulmonic stenosis and congenital nephrosis semapv:UnspecifiedMatching MONDO:0009939 pulmonic stenosis and congenital nephrosis skos:exactMatch SCTID:236530006 semapv:UnspecifiedMatching MONDO:0009939 pulmonic stenosis and congenital nephrosis skos:exactMatch UMLS:C0403552 semapv:UnspecifiedMatching MONDO:0009939 pulmonic stenosis and congenital nephrosis skos:exactMatch mesh:C562895 semapv:UnspecifiedMatching MONDO:0009940 pycnodysostosis skos:exactMatch DOID:0080038 pycnodysostosis semapv:UnspecifiedMatching MONDO:0009940 pycnodysostosis skos:exactMatch MEDGEN:116061 semapv:UnspecifiedMatching MONDO:0009940 pycnodysostosis skos:exactMatch NCIT:C131187 Pycnodysostosis semapv:UnspecifiedMatching MONDO:0009940 pycnodysostosis skos:exactMatch OMIM:265800 pycnodysostosis semapv:UnspecifiedMatching MONDO:0009940 pycnodysostosis skos:exactMatch Orphanet:763 Pycnodysostosis semapv:UnspecifiedMatching MONDO:0009940 pycnodysostosis skos:exactMatch SCTID:89647000 semapv:UnspecifiedMatching MONDO:0009940 pycnodysostosis skos:exactMatch UMLS:C0238402 semapv:UnspecifiedMatching MONDO:0009940 pycnodysostosis skos:exactMatch icd11.foundation:1329974152 Pycnodysostosis semapv:UnspecifiedMatching MONDO:0009940 pycnodysostosis skos:exactMatch mesh:D058631 semapv:UnspecifiedMatching MONDO:0009941 obsolete Pygmy skos:exactMatch OMIM:265850 pygmy semapv:UnspecifiedMatching MONDO:0009942 pyknoachondrogenesis skos:exactMatch MEDGEN:337844 semapv:UnspecifiedMatching MONDO:0009942 pyknoachondrogenesis skos:exactMatch OMIM:265880 pyknoachondrogenesis semapv:UnspecifiedMatching MONDO:0009942 pyknoachondrogenesis skos:exactMatch Orphanet:3003 Pyknoachondrogenesis semapv:UnspecifiedMatching MONDO:0009942 pyknoachondrogenesis skos:exactMatch SCTID:719258003 semapv:UnspecifiedMatching MONDO:0009942 pyknoachondrogenesis skos:exactMatch UMLS:C1849523 semapv:UnspecifiedMatching MONDO:0009942 pyknoachondrogenesis skos:exactMatch icd11.foundation:588435239 Pyknoachondrogenesis semapv:UnspecifiedMatching MONDO:0009942 pyknoachondrogenesis skos:exactMatch mesh:C536251 semapv:UnspecifiedMatching MONDO:0009943 Pyle disease skos:exactMatch DOID:0080019 metaphyseal dysplasia semapv:UnspecifiedMatching MONDO:0009943 Pyle disease skos:exactMatch ICD10CM:Q78.5 Metaphyseal dysplasia semapv:UnspecifiedMatching MONDO:0009943 Pyle disease skos:exactMatch MEDGEN:82704 semapv:UnspecifiedMatching MONDO:0009943 Pyle disease skos:exactMatch OMIM:265900 pyle disease semapv:UnspecifiedMatching MONDO:0009943 Pyle disease skos:exactMatch Orphanet:3005 Pyle disease semapv:UnspecifiedMatching MONDO:0009943 Pyle disease skos:exactMatch SCTID:27837003 semapv:UnspecifiedMatching MONDO:0009943 Pyle disease skos:exactMatch UMLS:C0265294 semapv:UnspecifiedMatching MONDO:0009943 Pyle disease skos:exactMatch icd11.foundation:651364947 Pyle disease semapv:UnspecifiedMatching MONDO:0009943 Pyle disease skos:exactMatch mesh:C536252 semapv:UnspecifiedMatching MONDO:0009944 pyloric atresia skos:exactMatch MEDGEN:75601 semapv:UnspecifiedMatching MONDO:0009944 pyloric atresia skos:exactMatch OMIM:265950 pyloric atresia semapv:UnspecifiedMatching MONDO:0009944 pyloric atresia skos:exactMatch SCTID:27729002 semapv:UnspecifiedMatching MONDO:0009944 pyloric atresia skos:exactMatch UMLS:C0266159 semapv:UnspecifiedMatching MONDO:0009944 pyloric atresia skos:exactMatch mesh:C562561 semapv:UnspecifiedMatching MONDO:0009945 pyridoxine-dependent epilepsy skos:exactMatch DOID:0080768 pyridoxine-dependent epilepsy semapv:UnspecifiedMatching MONDO:0009945 pyridoxine-dependent epilepsy skos:exactMatch MEDGEN:340341 semapv:UnspecifiedMatching MONDO:0009945 pyridoxine-dependent epilepsy skos:exactMatch Orphanet:3006 Pyridoxine-dependent-developmental and epileptic encephalopathy semapv:UnspecifiedMatching MONDO:0009945 pyridoxine-dependent epilepsy skos:exactMatch SCTID:734434007 semapv:UnspecifiedMatching MONDO:0009945 pyridoxine-dependent epilepsy skos:exactMatch UMLS:C1849508 semapv:UnspecifiedMatching MONDO:0009945 pyridoxine-dependent epilepsy skos:exactMatch mesh:C536254 semapv:UnspecifiedMatching MONDO:0009946 hemolytic anemia due to pyrimidine 5' nucleotidase deficiency skos:exactMatch DOID:0051007 congenital nonspherocytic hemolytic anemia 8 semapv:UnspecifiedMatching MONDO:0009946 hemolytic anemia due to pyrimidine 5' nucleotidase deficiency skos:exactMatch MEDGEN:341470 semapv:UnspecifiedMatching MONDO:0009946 hemolytic anemia due to pyrimidine 5' nucleotidase deficiency skos:exactMatch OMIM:266120 anemia, congenital, nonspherocytic hemolytic, 8 semapv:UnspecifiedMatching MONDO:0009946 hemolytic anemia due to pyrimidine 5' nucleotidase deficiency skos:exactMatch Orphanet:35120 Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency semapv:UnspecifiedMatching MONDO:0009946 hemolytic anemia due to pyrimidine 5' nucleotidase deficiency skos:exactMatch UMLS:C1849507 semapv:UnspecifiedMatching MONDO:0009946 hemolytic anemia due to pyrimidine 5' nucleotidase deficiency skos:exactMatch mesh:C564859 semapv:UnspecifiedMatching MONDO:0009947 glutathione synthetase deficiency with 5-oxoprolinuria skos:exactMatch DOID:0081034 glutatione synthetase deficiency with 5-oxoprolinuria semapv:UnspecifiedMatching MONDO:0009947 glutathione synthetase deficiency with 5-oxoprolinuria skos:exactMatch MEDGEN:97988 semapv:UnspecifiedMatching MONDO:0009947 glutathione synthetase deficiency with 5-oxoprolinuria skos:exactMatch OMIM:266130 glutathione synthetase deficiency semapv:UnspecifiedMatching MONDO:0009947 glutathione synthetase deficiency with 5-oxoprolinuria skos:exactMatch Orphanet:289846 Glutathione synthetase deficiency with 5-oxoprolinuria semapv:UnspecifiedMatching MONDO:0009947 glutathione synthetase deficiency with 5-oxoprolinuria skos:exactMatch SCTID:39112005 semapv:UnspecifiedMatching MONDO:0009947 glutathione synthetase deficiency with 5-oxoprolinuria skos:exactMatch UMLS:C0398746 semapv:UnspecifiedMatching MONDO:0009947 glutathione synthetase deficiency with 5-oxoprolinuria skos:exactMatch icd11.foundation:2005562438 Glutathione synthetase deficiency with 5-oxoprolinuria semapv:UnspecifiedMatching MONDO:0009948 pyropoikilocytosis, hereditary skos:exactMatch DOID:0061026 hereditary pyropoikilocytosis semapv:UnspecifiedMatching MONDO:0009948 pyropoikilocytosis, hereditary skos:exactMatch MEDGEN:141708 semapv:UnspecifiedMatching MONDO:0009948 pyropoikilocytosis, hereditary skos:exactMatch NCIT:C98943 Hereditary Pyropoikilocytosis semapv:UnspecifiedMatching MONDO:0009948 pyropoikilocytosis, hereditary skos:exactMatch OMIM:266140 pyropoikilocytosis, hereditary semapv:UnspecifiedMatching MONDO:0009948 pyropoikilocytosis, hereditary skos:exactMatch SCTID:9434008 semapv:UnspecifiedMatching MONDO:0009948 pyropoikilocytosis, hereditary skos:exactMatch UMLS:C0520739 semapv:UnspecifiedMatching MONDO:0009948 pyropoikilocytosis, hereditary skos:exactMatch mesh:C563004 semapv:UnspecifiedMatching MONDO:0009949 pyruvate carboxylase deficiency disease skos:exactMatch DOID:3651 pyruvate carboxylase deficiency disease semapv:UnspecifiedMatching MONDO:0009949 pyruvate carboxylase deficiency disease skos:exactMatch EFO:1001142 semapv:UnspecifiedMatching MONDO:0009949 pyruvate carboxylase deficiency disease skos:exactMatch MEDGEN:18801 semapv:UnspecifiedMatching MONDO:0009949 pyruvate carboxylase deficiency disease skos:exactMatch NCIT:C85040 Pyruvate Carboxylase Deficiency semapv:UnspecifiedMatching MONDO:0009949 pyruvate carboxylase deficiency disease skos:exactMatch OMIM:266150 pyruvate carboxylase deficiency semapv:UnspecifiedMatching MONDO:0009949 pyruvate carboxylase deficiency disease skos:exactMatch Orphanet:3008 Pyruvate carboxylase deficiency semapv:UnspecifiedMatching MONDO:0009949 pyruvate carboxylase deficiency disease skos:exactMatch SCTID:87694001 semapv:UnspecifiedMatching MONDO:0009949 pyruvate carboxylase deficiency disease skos:exactMatch UMLS:C0034341 semapv:UnspecifiedMatching MONDO:0009949 pyruvate carboxylase deficiency disease skos:exactMatch icd11.foundation:2047948460 Pyruvate carboxylase deficiency semapv:UnspecifiedMatching MONDO:0009949 pyruvate carboxylase deficiency disease skos:exactMatch mesh:D015324 semapv:UnspecifiedMatching MONDO:0009950 pyruvate kinase deficiency of red cells skos:exactMatch DOID:0111077 congenital nonspherocytic hemolytic anemia 2 semapv:UnspecifiedMatching MONDO:0009950 pyruvate kinase deficiency of red cells skos:exactMatch MEDGEN:473069 semapv:UnspecifiedMatching MONDO:0009950 pyruvate kinase deficiency of red cells skos:exactMatch NCIT:C99037 Pyruvate Kinase Deficiency semapv:UnspecifiedMatching MONDO:0009950 pyruvate kinase deficiency of red cells skos:exactMatch OMIM:266200 anemia, congenital, nonspherocytic hemolytic, 2 semapv:UnspecifiedMatching MONDO:0009950 pyruvate kinase deficiency of red cells skos:exactMatch Orphanet:766 Hemolytic anemia due to red cell pyruvate kinase deficiency semapv:UnspecifiedMatching MONDO:0009950 pyruvate kinase deficiency of red cells skos:exactMatch SCTID:124331002 semapv:UnspecifiedMatching MONDO:0009950 pyruvate kinase deficiency of red cells skos:exactMatch UMLS:C0340968 semapv:UnspecifiedMatching MONDO:0009950 pyruvate kinase deficiency of red cells skos:exactMatch mesh:C564858 semapv:UnspecifiedMatching MONDO:0009951 radiculoneuropathy, fatal neonatal skos:exactMatch MEDGEN:376592 semapv:UnspecifiedMatching MONDO:0009951 radiculoneuropathy, fatal neonatal skos:exactMatch OMIM:266250 radiculoneuropathy, fatal neonatal semapv:UnspecifiedMatching MONDO:0009951 radiculoneuropathy, fatal neonatal skos:exactMatch UMLS:C1849471 semapv:UnspecifiedMatching MONDO:0009951 radiculoneuropathy, fatal neonatal skos:exactMatch mesh:C564857 semapv:UnspecifiedMatching MONDO:0009952 radioulnar synostosis-developmental delay-hypotonia syndrome skos:exactMatch MEDGEN:341460 semapv:UnspecifiedMatching MONDO:0009952 radioulnar synostosis-developmental delay-hypotonia syndrome skos:exactMatch OMIM:266255 radioulnar synostosis, unilateral, with developmental retardation and hypotonia semapv:UnspecifiedMatching MONDO:0009952 radioulnar synostosis-developmental delay-hypotonia syndrome skos:exactMatch Orphanet:3270 Radioulnar synostosis-developmental delay-hypotonia syndrome semapv:UnspecifiedMatching MONDO:0009952 radioulnar synostosis-developmental delay-hypotonia syndrome skos:exactMatch SCTID:721883006 semapv:UnspecifiedMatching MONDO:0009952 radioulnar synostosis-developmental delay-hypotonia syndrome skos:exactMatch UMLS:C1849470 semapv:UnspecifiedMatching MONDO:0009952 radioulnar synostosis-developmental delay-hypotonia syndrome skos:exactMatch mesh:C538217 semapv:UnspecifiedMatching MONDO:0009952 radioulnar synostosis-developmental delay-hypotonia syndrome skos:exactMatch mesh:C564856 semapv:UnspecifiedMatching MONDO:0009953 leukocyte adhesion deficiency type II skos:exactMatch DOID:0070255 congenital disorder of glycosylation type IIc semapv:UnspecifiedMatching MONDO:0009953 leukocyte adhesion deficiency type II skos:exactMatch DOID:0080492 leukocyte adhesion deficiency 2 semapv:UnspecifiedMatching MONDO:0009953 leukocyte adhesion deficiency type II skos:exactMatch MEDGEN:96022 semapv:UnspecifiedMatching MONDO:0009953 leukocyte adhesion deficiency type II skos:exactMatch NCIT:C4690 Leukocyte Adhesion Deficiency Type 2 semapv:UnspecifiedMatching MONDO:0009953 leukocyte adhesion deficiency type II skos:exactMatch OMIM:266265 congenital disorder of glycosylation, type iic semapv:UnspecifiedMatching MONDO:0009953 leukocyte adhesion deficiency type II skos:exactMatch Orphanet:99843 Leukocyte adhesion deficiency type II semapv:UnspecifiedMatching MONDO:0009953 leukocyte adhesion deficiency type II skos:exactMatch SCTID:234583001 semapv:UnspecifiedMatching MONDO:0009953 leukocyte adhesion deficiency type II skos:exactMatch UMLS:C0398739 semapv:UnspecifiedMatching MONDO:0009953 leukocyte adhesion deficiency type II skos:exactMatch mesh:C535755 semapv:UnspecifiedMatching MONDO:0009954 Ramon syndrome skos:exactMatch DOID:0070650 Ramon syndrome semapv:UnspecifiedMatching MONDO:0009954 Ramon syndrome skos:exactMatch MEDGEN:208669 semapv:UnspecifiedMatching MONDO:0009954 Ramon syndrome skos:exactMatch OMIM:266270 ramon syndrome semapv:UnspecifiedMatching MONDO:0009954 Ramon syndrome skos:exactMatch Orphanet:3019 Ramon syndrome semapv:UnspecifiedMatching MONDO:0009954 Ramon syndrome skos:exactMatch UMLS:C0796133 semapv:UnspecifiedMatching MONDO:0009954 Ramon syndrome skos:exactMatch icd11.foundation:122538435 Ramon syndrome semapv:UnspecifiedMatching MONDO:0009954 Ramon syndrome skos:exactMatch mesh:C535285 semapv:UnspecifiedMatching MONDO:0009955 rapadilino syndrome skos:exactMatch DOID:0050774 rapadilino syndrome semapv:UnspecifiedMatching MONDO:0009955 rapadilino syndrome skos:exactMatch MEDGEN:336602 semapv:UnspecifiedMatching MONDO:0009955 rapadilino syndrome skos:exactMatch OMIM:266280 rapadilino syndrome semapv:UnspecifiedMatching MONDO:0009955 rapadilino syndrome skos:exactMatch Orphanet:3021 RAPADILINO syndrome semapv:UnspecifiedMatching MONDO:0009955 rapadilino syndrome skos:exactMatch SCTID:702413000 semapv:UnspecifiedMatching MONDO:0009955 rapadilino syndrome skos:exactMatch UMLS:C1849453 semapv:UnspecifiedMatching MONDO:0009955 rapadilino syndrome skos:exactMatch icd11.foundation:1439614760 RAPADILINO syndrome semapv:UnspecifiedMatching MONDO:0009955 rapadilino syndrome skos:exactMatch mesh:C535288 semapv:UnspecifiedMatching MONDO:0009956 red skin pigment anomaly of new guinea skos:exactMatch MEDGEN:341457 semapv:UnspecifiedMatching MONDO:0009956 red skin pigment anomaly of new guinea skos:exactMatch OMIM:266350 red skin pigment anomaly of new guinea semapv:UnspecifiedMatching MONDO:0009956 red skin pigment anomaly of new guinea skos:exactMatch UMLS:C1849451 semapv:UnspecifiedMatching MONDO:0009956 red skin pigment anomaly of new guinea skos:exactMatch mesh:C535515 semapv:UnspecifiedMatching MONDO:0009957 Reese retinal dysplasia skos:exactMatch MEDGEN:341456 semapv:UnspecifiedMatching MONDO:0009957 Reese retinal dysplasia skos:exactMatch OMIM:266400 reese retinal dysplasia semapv:UnspecifiedMatching MONDO:0009957 Reese retinal dysplasia skos:exactMatch UMLS:C1849450 semapv:UnspecifiedMatching MONDO:0009957 Reese retinal dysplasia skos:exactMatch mesh:C564854 semapv:UnspecifiedMatching MONDO:0009958 adult Refsum disease skos:exactMatch DOID:10582 Refsum disease semapv:UnspecifiedMatching MONDO:0009958 adult Refsum disease skos:exactMatch ICD10CM:G60.1 Refsum's disease semapv:UnspecifiedMatching MONDO:0009958 adult Refsum disease skos:exactMatch MEDGEN:11161 semapv:UnspecifiedMatching MONDO:0009958 adult Refsum disease skos:exactMatch OMIM:266500 refsum disease, classic semapv:UnspecifiedMatching MONDO:0009958 adult Refsum disease skos:exactMatch Orphanet:773 Refsum disease semapv:UnspecifiedMatching MONDO:0009958 adult Refsum disease skos:exactMatch SCTID:25362006 semapv:UnspecifiedMatching MONDO:0009958 adult Refsum disease skos:exactMatch UMLS:C0034960 semapv:UnspecifiedMatching MONDO:0009958 adult Refsum disease skos:exactMatch mesh:D012035 semapv:UnspecifiedMatching MONDO:0009959 peroxisome biogenesis disorder type 3B skos:exactMatch DOID:0081241 peroxisome biogenesis disorder 3B semapv:UnspecifiedMatching MONDO:0009959 peroxisome biogenesis disorder type 3B skos:exactMatch MEDGEN:763607 semapv:UnspecifiedMatching MONDO:0009959 peroxisome biogenesis disorder type 3B skos:exactMatch OMIM:266510 peroxisome biogenesis disorder 3b semapv:UnspecifiedMatching MONDO:0009959 peroxisome biogenesis disorder type 3B skos:exactMatch UMLS:C3550693 semapv:UnspecifiedMatching MONDO:0009960 inflammatory bowel disease 1 skos:exactMatch DOID:0110892 inflammatory bowel disease 1 semapv:UnspecifiedMatching MONDO:0009960 inflammatory bowel disease 1 skos:exactMatch OMIM:266600 inflammatory bowel disease (crohn disease) 1 semapv:UnspecifiedMatching MONDO:0009960 inflammatory bowel disease 1 skos:exactMatch SCTID:34000006 semapv:UnspecifiedMatching MONDO:0009961 renal and mullerian duct hypoplasia skos:exactMatch MEDGEN:340326 semapv:UnspecifiedMatching MONDO:0009961 renal and mullerian duct hypoplasia skos:exactMatch OMIM:266810 renal and mullerian duct hypoplasia semapv:UnspecifiedMatching MONDO:0009961 renal and mullerian duct hypoplasia skos:exactMatch UMLS:C1849439 semapv:UnspecifiedMatching MONDO:0009961 renal and mullerian duct hypoplasia skos:exactMatch mesh:C564853 semapv:UnspecifiedMatching MONDO:0009962 Senior-Loken syndrome 1 skos:exactMatch MEDGEN:1639722 semapv:UnspecifiedMatching MONDO:0009962 Senior-Loken syndrome 1 skos:exactMatch OMIM:266900 senior-loken syndrome 1 semapv:UnspecifiedMatching MONDO:0009962 Senior-Loken syndrome 1 skos:exactMatch SCTID:236531005 semapv:UnspecifiedMatching MONDO:0009962 Senior-Loken syndrome 1 skos:exactMatch UMLS:C4551559 semapv:UnspecifiedMatching MONDO:0009963 Ulbright-Hodes syndrome skos:exactMatch MEDGEN:376585 semapv:UnspecifiedMatching MONDO:0009963 Ulbright-Hodes syndrome skos:exactMatch OMIM:266910 renal dysplasia-limb defects syndrome semapv:UnspecifiedMatching MONDO:0009963 Ulbright-Hodes syndrome skos:exactMatch Orphanet:3404 Ulbright-Hodes syndrome semapv:UnspecifiedMatching MONDO:0009963 Ulbright-Hodes syndrome skos:exactMatch SCTID:719840003 semapv:UnspecifiedMatching MONDO:0009963 Ulbright-Hodes syndrome skos:exactMatch UMLS:C1849438 semapv:UnspecifiedMatching MONDO:0009963 Ulbright-Hodes syndrome skos:exactMatch mesh:C537754 semapv:UnspecifiedMatching MONDO:0009964 short-rib thoracic dysplasia 9 with or without polydactyly skos:exactMatch DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly semapv:UnspecifiedMatching MONDO:0009964 short-rib thoracic dysplasia 9 with or without polydactyly skos:exactMatch MEDGEN:341455 semapv:UnspecifiedMatching MONDO:0009964 short-rib thoracic dysplasia 9 with or without polydactyly skos:exactMatch OMIM:266920 short-rib thoracic dysplasia 9 with or without polydactyly semapv:UnspecifiedMatching MONDO:0009964 short-rib thoracic dysplasia 9 with or without polydactyly skos:exactMatch Orphanet:140969 Saldino-Mainzer syndrome semapv:UnspecifiedMatching MONDO:0009964 short-rib thoracic dysplasia 9 with or without polydactyly skos:exactMatch SCTID:254092004 semapv:UnspecifiedMatching MONDO:0009964 short-rib thoracic dysplasia 9 with or without polydactyly skos:exactMatch UMLS:C1849437 semapv:UnspecifiedMatching MONDO:0009965 Perlman syndrome skos:exactMatch DOID:0060476 Perlman syndrome semapv:UnspecifiedMatching MONDO:0009965 Perlman syndrome skos:exactMatch MEDGEN:162909 semapv:UnspecifiedMatching MONDO:0009965 Perlman syndrome skos:exactMatch NCIT:C103144 Perlman Syndrome semapv:UnspecifiedMatching MONDO:0009965 Perlman syndrome skos:exactMatch OMIM:267000 perlman syndrome semapv:UnspecifiedMatching MONDO:0009965 Perlman syndrome skos:exactMatch Orphanet:2849 Perlman syndrome semapv:UnspecifiedMatching MONDO:0009965 Perlman syndrome skos:exactMatch SCTID:722231005 semapv:UnspecifiedMatching MONDO:0009965 Perlman syndrome skos:exactMatch UMLS:C0796113 semapv:UnspecifiedMatching MONDO:0009965 Perlman syndrome skos:exactMatch icd11.foundation:795682441 Perlman syndrome semapv:UnspecifiedMatching MONDO:0009965 Perlman syndrome skos:exactMatch mesh:C536399 semapv:UnspecifiedMatching MONDO:0009966 NPHP3-related Meckel-like syndrome skos:exactMatch DOID:0070121 Meckel syndrome 7 semapv:UnspecifiedMatching MONDO:0009966 NPHP3-related Meckel-like syndrome skos:exactMatch MEDGEN:382217 semapv:UnspecifiedMatching MONDO:0009966 NPHP3-related Meckel-like syndrome skos:exactMatch OMIM:267010 meckel syndrome, type 7 semapv:UnspecifiedMatching MONDO:0009966 NPHP3-related Meckel-like syndrome skos:exactMatch Orphanet:3032 NPHP3-related Meckel-like syndrome semapv:UnspecifiedMatching MONDO:0009966 NPHP3-related Meckel-like syndrome skos:exactMatch UMLS:C2673885 semapv:UnspecifiedMatching MONDO:0009966 NPHP3-related Meckel-like syndrome skos:exactMatch mesh:C537756 semapv:UnspecifiedMatching MONDO:0009967 renal tubular acidosis 3 skos:exactMatch MEDGEN:336601 semapv:UnspecifiedMatching MONDO:0009967 renal tubular acidosis 3 skos:exactMatch OMIM:267200 renal tubular acidosis 3 semapv:UnspecifiedMatching MONDO:0009967 renal tubular acidosis 3 skos:exactMatch UMLS:C1849435 semapv:UnspecifiedMatching MONDO:0009967 renal tubular acidosis 3 skos:exactMatch mesh:C537759 semapv:UnspecifiedMatching MONDO:0009968 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss skos:exactMatch MEDGEN:98336 semapv:UnspecifiedMatching MONDO:0009968 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss skos:exactMatch OMIM:267300 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss semapv:UnspecifiedMatching MONDO:0009968 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss skos:exactMatch SCTID:236532003 semapv:UnspecifiedMatching MONDO:0009968 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss skos:exactMatch SCTID:722468005 semapv:UnspecifiedMatching MONDO:0009968 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss skos:exactMatch UMLS:C0403554 semapv:UnspecifiedMatching MONDO:0009968 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss skos:exactMatch mesh:C562897 semapv:UnspecifiedMatching MONDO:0009969 renal-genital-middle ear anomalies skos:exactMatch MEDGEN:341454 semapv:UnspecifiedMatching MONDO:0009969 renal-genital-middle ear anomalies skos:exactMatch OMIM:267400 renal, genital, and middle ear anomalies semapv:UnspecifiedMatching MONDO:0009969 renal-genital-middle ear anomalies skos:exactMatch UMLS:C1849432 semapv:UnspecifiedMatching MONDO:0009969 renal-genital-middle ear anomalies skos:exactMatch mesh:C564849 semapv:UnspecifiedMatching MONDO:0009970 renal tubular dysgenesis of genetic origin skos:exactMatch MEDGEN:1826125 semapv:UnspecifiedMatching MONDO:0009970 renal tubular dysgenesis of genetic origin skos:exactMatch OMIM:267430 renal tubular dysgenesis semapv:UnspecifiedMatching MONDO:0009970 renal tubular dysgenesis of genetic origin skos:exactMatch Orphanet:97369 Renal tubular dysgenesis of genetic origin semapv:UnspecifiedMatching MONDO:0009970 renal tubular dysgenesis of genetic origin skos:exactMatch UMLS:C5681536 semapv:UnspecifiedMatching MONDO:0009970 renal tubular dysgenesis of genetic origin skos:exactMatch icd11.foundation:616055520 Renal tubular dysgenesis of genetic origin semapv:UnspecifiedMatching MONDO:0009971 respiratory distress syndrome in premature infants skos:exactMatch MEDGEN:368840 semapv:UnspecifiedMatching MONDO:0009971 respiratory distress syndrome in premature infants skos:exactMatch OMIM:267450 respiratory distress syndrome 1n premature infants semapv:UnspecifiedMatching MONDO:0009971 respiratory distress syndrome in premature infants skos:exactMatch UMLS:C1968593 semapv:UnspecifiedMatching MONDO:0009971 respiratory distress syndrome in premature infants skos:exactMatch icd11.foundation:343716587 Respiratory distress syndrome of newborn semapv:UnspecifiedMatching MONDO:0009971 respiratory distress syndrome in premature infants skos:exactMatch mesh:C566881 semapv:UnspecifiedMatching MONDO:0009972 respiratory underresponsiveness to hypoxia and hypercapnia skos:exactMatch MEDGEN:341453 semapv:UnspecifiedMatching MONDO:0009972 respiratory underresponsiveness to hypoxia and hypercapnia skos:exactMatch OMIM:267480 respiratory underresponsiveness to hypoxia and hypercapnia semapv:UnspecifiedMatching MONDO:0009972 respiratory underresponsiveness to hypoxia and hypercapnia skos:exactMatch UMLS:C1849430 semapv:UnspecifiedMatching MONDO:0009972 respiratory underresponsiveness to hypoxia and hypercapnia skos:exactMatch mesh:C564848 semapv:UnspecifiedMatching MONDO:0009973 reticular dysgenesis skos:exactMatch DOID:0060020 reticular dysgenesis semapv:UnspecifiedMatching MONDO:0009973 reticular dysgenesis skos:exactMatch MEDGEN:124417 semapv:UnspecifiedMatching MONDO:0009973 reticular dysgenesis skos:exactMatch NCIT:C27070 Reticular Dysgenesis semapv:UnspecifiedMatching MONDO:0009973 reticular dysgenesis skos:exactMatch OMIM:267500 reticular dysgenesis semapv:UnspecifiedMatching MONDO:0009973 reticular dysgenesis skos:exactMatch Orphanet:33355 Reticular dysgenesis semapv:UnspecifiedMatching MONDO:0009973 reticular dysgenesis skos:exactMatch SCTID:111584000 semapv:UnspecifiedMatching MONDO:0009973 reticular dysgenesis skos:exactMatch UMLS:C0272167 semapv:UnspecifiedMatching MONDO:0009973 reticular dysgenesis skos:exactMatch mesh:C538361 semapv:UnspecifiedMatching MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 skos:exactMatch DOID:0110921 familial hemophagocytic lymphohistiocytosis 1 semapv:UnspecifiedMatching MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 skos:exactMatch MEDGEN:1642840 semapv:UnspecifiedMatching MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 skos:exactMatch NCIT:C61276 Familial Hemophagocytic Lymphohistiocytosis semapv:UnspecifiedMatching MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 skos:exactMatch OMIM:267700 hemophagocytic lymphohistiocytosis, familial, 1 semapv:UnspecifiedMatching MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 skos:exactMatch UMLS:C4551514 semapv:UnspecifiedMatching MONDO:0009975 reticulum cell sarcoma skos:exactMatch DOID:8538 reticulosarcoma semapv:UnspecifiedMatching MONDO:0009975 reticulum cell sarcoma skos:exactMatch EFO:0005287 semapv:UnspecifiedMatching MONDO:0009975 reticulum cell sarcoma skos:exactMatch MEDGEN:44224 semapv:UnspecifiedMatching MONDO:0009975 reticulum cell sarcoma skos:exactMatch NCIT:C27824 Reticulosarcoma semapv:UnspecifiedMatching MONDO:0009975 reticulum cell sarcoma skos:exactMatch OMIM:267730 reticulum cell sarcoma semapv:UnspecifiedMatching MONDO:0009975 reticulum cell sarcoma skos:exactMatch Orphanet:86900 Interdigitating dendritic cell sarcoma semapv:UnspecifiedMatching MONDO:0009975 reticulum cell sarcoma skos:exactMatch SCTID:373168002 semapv:UnspecifiedMatching MONDO:0009975 reticulum cell sarcoma skos:exactMatch UMLS:C0024302 semapv:UnspecifiedMatching MONDO:0009976 retinal degeneration and epilepsy skos:exactMatch MEDGEN:341450 semapv:UnspecifiedMatching MONDO:0009976 retinal degeneration and epilepsy skos:exactMatch OMIM:267740 retinal degeneration and epilepsy semapv:UnspecifiedMatching MONDO:0009976 retinal degeneration and epilepsy skos:exactMatch UMLS:C1849416 semapv:UnspecifiedMatching MONDO:0009976 retinal degeneration and epilepsy skos:exactMatch mesh:C564847 semapv:UnspecifiedMatching MONDO:0009978 retinal degeneration-nanophthalmos-glaucoma syndrome skos:exactMatch MEDGEN:444153 semapv:UnspecifiedMatching MONDO:0009978 retinal degeneration-nanophthalmos-glaucoma syndrome skos:exactMatch OMIM:267760 retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma semapv:UnspecifiedMatching MONDO:0009978 retinal degeneration-nanophthalmos-glaucoma syndrome skos:exactMatch Orphanet:1574 Retinal degeneration-nanophthalmos-glaucoma syndrome semapv:UnspecifiedMatching MONDO:0009978 retinal degeneration-nanophthalmos-glaucoma syndrome skos:exactMatch SCTID:723503006 semapv:UnspecifiedMatching MONDO:0009978 retinal degeneration-nanophthalmos-glaucoma syndrome skos:exactMatch UMLS:C2931831 semapv:UnspecifiedMatching MONDO:0009978 retinal degeneration-nanophthalmos-glaucoma syndrome skos:exactMatch mesh:C538364 semapv:UnspecifiedMatching MONDO:0009979 reticular dystrophy of the retinal pigment epithelium skos:exactMatch MEDGEN:356753 semapv:UnspecifiedMatching MONDO:0009979 reticular dystrophy of the retinal pigment epithelium skos:exactMatch OMIM:179840 reticular dystrophy of retinal pigment epithelium semapv:UnspecifiedMatching MONDO:0009979 reticular dystrophy of the retinal pigment epithelium skos:exactMatch Orphanet:99002 Reticular dystrophy of the retinal pigment epithelium semapv:UnspecifiedMatching MONDO:0009979 reticular dystrophy of the retinal pigment epithelium skos:exactMatch SCTID:723502001 semapv:UnspecifiedMatching MONDO:0009979 reticular dystrophy of the retinal pigment epithelium skos:exactMatch UMLS:C1867332 semapv:UnspecifiedMatching MONDO:0009979 reticular dystrophy of the retinal pigment epithelium skos:exactMatch icd11.foundation:878593681 Reticular dystrophy of the retinal pigment epithelium semapv:UnspecifiedMatching MONDO:0009979 reticular dystrophy of the retinal pigment epithelium skos:exactMatch mesh:C566721 semapv:UnspecifiedMatching MONDO:0009980 retinal telangiectasia and hypogammaglobulinemia skos:exactMatch MEDGEN:419680 semapv:UnspecifiedMatching MONDO:0009980 retinal telangiectasia and hypogammaglobulinemia skos:exactMatch OMIM:267900 retinal telangiectasia and hypogammaglobulinemia semapv:UnspecifiedMatching MONDO:0009980 retinal telangiectasia and hypogammaglobulinemia skos:exactMatch UMLS:C2930961 semapv:UnspecifiedMatching MONDO:0009980 retinal telangiectasia and hypogammaglobulinemia skos:exactMatch mesh:C535638 semapv:UnspecifiedMatching MONDO:0009982 retinitis pigmentosa inversa with deafness skos:exactMatch MEDGEN:341447 semapv:UnspecifiedMatching MONDO:0009982 retinitis pigmentosa inversa with deafness skos:exactMatch OMIM:268010 retinitis pigmentosa inversa with deafness semapv:UnspecifiedMatching MONDO:0009982 retinitis pigmentosa inversa with deafness skos:exactMatch UMLS:C1849405 semapv:UnspecifiedMatching MONDO:0009982 retinitis pigmentosa inversa with deafness skos:exactMatch mesh:C564842 semapv:UnspecifiedMatching MONDO:0009983 retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome skos:exactMatch MEDGEN:340317 semapv:UnspecifiedMatching MONDO:0009983 retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome skos:exactMatch OMIM:268020 retinitis pigmentosa, deafness, impaired intellectual development, and hypogonadism semapv:UnspecifiedMatching MONDO:0009983 retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome skos:exactMatch Orphanet:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome semapv:UnspecifiedMatching MONDO:0009983 retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome skos:exactMatch UMLS:C1849401 semapv:UnspecifiedMatching MONDO:0009983 retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome skos:exactMatch mesh:C564841 semapv:UnspecifiedMatching MONDO:0009984 late-adult onset retinitis pigmentosa skos:exactMatch DOID:0110421 late-adult onset retinitis pigmentosa semapv:UnspecifiedMatching MONDO:0009984 late-adult onset retinitis pigmentosa skos:exactMatch MEDGEN:340316 semapv:UnspecifiedMatching MONDO:0009984 late-adult onset retinitis pigmentosa skos:exactMatch OMIM:268025 retinitis pigmentosa, late-adult onset semapv:UnspecifiedMatching MONDO:0009984 late-adult onset retinitis pigmentosa skos:exactMatch UMLS:C1849400 semapv:UnspecifiedMatching MONDO:0009984 late-adult onset retinitis pigmentosa skos:exactMatch mesh:C564840 semapv:UnspecifiedMatching MONDO:0009985 retinohepatoendocrinologic syndrome skos:exactMatch MEDGEN:340315 semapv:UnspecifiedMatching MONDO:0009985 retinohepatoendocrinologic syndrome skos:exactMatch OMIM:268040 retinohepatoendocrinologic syndrome semapv:UnspecifiedMatching MONDO:0009985 retinohepatoendocrinologic syndrome skos:exactMatch SCTID:724000006 semapv:UnspecifiedMatching MONDO:0009985 retinohepatoendocrinologic syndrome skos:exactMatch UMLS:C1849399 semapv:UnspecifiedMatching MONDO:0009985 retinohepatoendocrinologic syndrome skos:exactMatch mesh:C564839 semapv:UnspecifiedMatching MONDO:0009986 retinopathy, pigmentary, and intellectual disability skos:exactMatch MEDGEN:167101 semapv:UnspecifiedMatching MONDO:0009986 retinopathy, pigmentary, and intellectual disability skos:exactMatch OMIM:268050 mirhosseini-holmes-walton syndrome semapv:UnspecifiedMatching MONDO:0009986 retinopathy, pigmentary, and intellectual disability skos:exactMatch UMLS:C0796072 semapv:UnspecifiedMatching MONDO:0009986 retinopathy, pigmentary, and intellectual disability skos:exactMatch mesh:C538367 semapv:UnspecifiedMatching MONDO:0009987 autosomal recessive pericentral pigmentary retinopathy skos:exactMatch DOID:0110422 autosomal recessive pericentral pigmentary retinopathy semapv:UnspecifiedMatching MONDO:0009987 autosomal recessive pericentral pigmentary retinopathy skos:exactMatch MEDGEN:340314 semapv:UnspecifiedMatching MONDO:0009987 autosomal recessive pericentral pigmentary retinopathy skos:exactMatch OMIM:268060 retinopathy, pericentral pigmentary, autosomal recessive semapv:UnspecifiedMatching MONDO:0009987 autosomal recessive pericentral pigmentary retinopathy skos:exactMatch UMLS:C1849398 semapv:UnspecifiedMatching MONDO:0009987 autosomal recessive pericentral pigmentary retinopathy skos:exactMatch mesh:C564838 semapv:UnspecifiedMatching MONDO:0009988 retinoschisis of fovea skos:exactMatch MEDGEN:340313 semapv:UnspecifiedMatching MONDO:0009988 retinoschisis of fovea skos:exactMatch OMIM:268080 retinoschisis of fovea semapv:UnspecifiedMatching MONDO:0009988 retinoschisis of fovea skos:exactMatch UMLS:C1849397 semapv:UnspecifiedMatching MONDO:0009988 retinoschisis of fovea skos:exactMatch mesh:C538369 semapv:UnspecifiedMatching MONDO:0009990 Revesz syndrome skos:exactMatch DOID:0070026 Revesz syndrome semapv:UnspecifiedMatching MONDO:0009990 Revesz syndrome skos:exactMatch MEDGEN:231230 semapv:UnspecifiedMatching MONDO:0009990 Revesz syndrome skos:exactMatch NCIT:C152064 Revesz Syndrome semapv:UnspecifiedMatching MONDO:0009990 Revesz syndrome skos:exactMatch OMIM:268130 revesz syndrome semapv:UnspecifiedMatching MONDO:0009990 Revesz syndrome skos:exactMatch Orphanet:3088 Revesz syndrome semapv:UnspecifiedMatching MONDO:0009990 Revesz syndrome skos:exactMatch SCTID:723512008 semapv:UnspecifiedMatching MONDO:0009990 Revesz syndrome skos:exactMatch UMLS:C1327916 semapv:UnspecifiedMatching MONDO:0009990 Revesz syndrome skos:exactMatch mesh:C538371 semapv:UnspecifiedMatching MONDO:0009992 myoglobinuria, acute recurrent, autosomal recessive skos:exactMatch MEDGEN:340308 semapv:UnspecifiedMatching MONDO:0009992 myoglobinuria, acute recurrent, autosomal recessive skos:exactMatch OMIM:268200 myoglobinuria, acute recurrent, autosomal recessive semapv:UnspecifiedMatching MONDO:0009992 myoglobinuria, acute recurrent, autosomal recessive skos:exactMatch UMLS:C1849386 semapv:UnspecifiedMatching MONDO:0009992 myoglobinuria, acute recurrent, autosomal recessive skos:exactMatch mesh:C564832 semapv:UnspecifiedMatching MONDO:0009993 embryonal rhabdomyosarcoma skos:exactMatch DOID:3246 embryonal rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0009993 embryonal rhabdomyosarcoma skos:exactMatch EFO:0000437 semapv:UnspecifiedMatching MONDO:0009993 embryonal rhabdomyosarcoma skos:exactMatch MEDGEN:104910 semapv:UnspecifiedMatching MONDO:0009993 embryonal rhabdomyosarcoma skos:exactMatch NCIT:C8971 Embryonal Rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0009993 embryonal rhabdomyosarcoma skos:exactMatch OMIM:268210 rhabdomyosarcoma, embryonal, 1 semapv:UnspecifiedMatching MONDO:0009993 embryonal rhabdomyosarcoma skos:exactMatch Orphanet:99757 Embryonal rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0009993 embryonal rhabdomyosarcoma skos:exactMatch SCTID:404051002 semapv:UnspecifiedMatching MONDO:0009993 embryonal rhabdomyosarcoma skos:exactMatch UMLS:C0206656 semapv:UnspecifiedMatching MONDO:0009994 alveolar rhabdomyosarcoma skos:exactMatch DOID:4051 alveolar rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0009994 alveolar rhabdomyosarcoma skos:exactMatch EFO:0000248 semapv:UnspecifiedMatching MONDO:0009994 alveolar rhabdomyosarcoma skos:exactMatch MEDGEN:61651 semapv:UnspecifiedMatching MONDO:0009994 alveolar rhabdomyosarcoma skos:exactMatch NCIT:C3749 Alveolar Rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0009994 alveolar rhabdomyosarcoma skos:exactMatch OMIM:268220 rhabdomyosarcoma 2 semapv:UnspecifiedMatching MONDO:0009994 alveolar rhabdomyosarcoma skos:exactMatch Orphanet:99756 Alveolar rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0009994 alveolar rhabdomyosarcoma skos:exactMatch SCTID:404053004 semapv:UnspecifiedMatching MONDO:0009994 alveolar rhabdomyosarcoma skos:exactMatch UMLS:C0206655 semapv:UnspecifiedMatching MONDO:0009994 alveolar rhabdomyosarcoma skos:exactMatch icd11.foundation:1742058067 Alveolar rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0009994 alveolar rhabdomyosarcoma skos:exactMatch mesh:D018232 semapv:UnspecifiedMatching MONDO:0009995 obsolete rheumatic fever-related antigen skos:exactMatch OMIM:268240 rheumatic fever-related antigen semapv:UnspecifiedMatching MONDO:0009996 rhizomelic syndrome, Urbach type skos:exactMatch MEDGEN:376574 semapv:UnspecifiedMatching MONDO:0009996 rhizomelic syndrome, Urbach type skos:exactMatch OMIM:268250 rhizomelic syndrome semapv:UnspecifiedMatching MONDO:0009996 rhizomelic syndrome, Urbach type skos:exactMatch Orphanet:3098 Rhizomelic syndrome, Urbach type semapv:UnspecifiedMatching MONDO:0009996 rhizomelic syndrome, Urbach type skos:exactMatch UMLS:C1849382 semapv:UnspecifiedMatching MONDO:0009996 rhizomelic syndrome, Urbach type skos:exactMatch mesh:C537611 semapv:UnspecifiedMatching MONDO:0009998 Richieri Costa-Pereira syndrome skos:exactMatch MEDGEN:336581 semapv:UnspecifiedMatching MONDO:0009998 Richieri Costa-Pereira syndrome skos:exactMatch OMIM:268305 robin sequence with cleft mandible and limb anomalies semapv:UnspecifiedMatching MONDO:0009998 Richieri Costa-Pereira syndrome skos:exactMatch Orphanet:3102 Richieri Costa-Pereira syndrome semapv:UnspecifiedMatching MONDO:0009998 Richieri Costa-Pereira syndrome skos:exactMatch SCTID:723998001 semapv:UnspecifiedMatching MONDO:0009998 Richieri Costa-Pereira syndrome skos:exactMatch UMLS:C1849348 semapv:UnspecifiedMatching MONDO:0009998 Richieri Costa-Pereira syndrome skos:exactMatch icd11.foundation:107084177 Richieri Costa-Pereira syndrome semapv:UnspecifiedMatching MONDO:0009998 Richieri Costa-Pereira syndrome skos:exactMatch mesh:C535677 semapv:UnspecifiedMatching MONDO:0009999 autosomal recessive Robinow syndrome skos:exactMatch DOID:0060764 autosomal recessive Robinow syndrome semapv:UnspecifiedMatching MONDO:0009999 autosomal recessive Robinow syndrome skos:exactMatch MEDGEN:1770070 semapv:UnspecifiedMatching MONDO:0009999 autosomal recessive Robinow syndrome skos:exactMatch OMIM:268310 robinow syndrome, autosomal recessive 1 semapv:UnspecifiedMatching MONDO:0009999 autosomal recessive Robinow syndrome skos:exactMatch Orphanet:1507 Autosomal recessive Robinow syndrome semapv:UnspecifiedMatching MONDO:0009999 autosomal recessive Robinow syndrome skos:exactMatch UMLS:C5399974 semapv:UnspecifiedMatching MONDO:0009999 autosomal recessive Robinow syndrome skos:exactMatch icd11.foundation:793292660 Autosomal recessive Robinow syndrome semapv:UnspecifiedMatching MONDO:0009999 autosomal recessive Robinow syndrome skos:exactMatch mesh:C535863 semapv:UnspecifiedMatching MONDO:0010000 rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction skos:exactMatch MEDGEN:376565 semapv:UnspecifiedMatching MONDO:0010000 rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction skos:exactMatch OMIM:268315 rod-cone dystrophy, sensorineural deafness, and fanconi-type renal dysfunction semapv:UnspecifiedMatching MONDO:0010000 rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction skos:exactMatch UMLS:C1849333 semapv:UnspecifiedMatching MONDO:0010000 rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction skos:exactMatch mesh:C564829 semapv:UnspecifiedMatching MONDO:0010001 ectodermal dysplasia-blindness syndrome skos:exactMatch MEDGEN:340297 semapv:UnspecifiedMatching MONDO:0010001 ectodermal dysplasia-blindness syndrome skos:exactMatch OMIM:268320 rodrigues blindness semapv:UnspecifiedMatching MONDO:0010001 ectodermal dysplasia-blindness syndrome skos:exactMatch Orphanet:1806 Ectodermal dysplasia-blindness syndrome semapv:UnspecifiedMatching MONDO:0010001 ectodermal dysplasia-blindness syndrome skos:exactMatch UMLS:C1849332 semapv:UnspecifiedMatching MONDO:0010001 ectodermal dysplasia-blindness syndrome skos:exactMatch mesh:C535865 semapv:UnspecifiedMatching MONDO:0010002 Rothmund-Thomson syndrome skos:exactMatch DOID:2732 Rothmund-Thomson syndrome semapv:UnspecifiedMatching MONDO:0010002 Rothmund-Thomson syndrome skos:exactMatch MEDGEN:10819 semapv:UnspecifiedMatching MONDO:0010002 Rothmund-Thomson syndrome skos:exactMatch NCIT:C3335 Rothmund-Thomson Syndrome semapv:UnspecifiedMatching MONDO:0010002 Rothmund-Thomson syndrome skos:exactMatch OMIMPS:268400 Rothmund-Thomson syndrome semapv:UnspecifiedMatching MONDO:0010002 Rothmund-Thomson syndrome skos:exactMatch Orphanet:2909 Rothmund-Thomson syndrome semapv:UnspecifiedMatching MONDO:0010002 Rothmund-Thomson syndrome skos:exactMatch SCTID:69093006 semapv:UnspecifiedMatching MONDO:0010002 Rothmund-Thomson syndrome skos:exactMatch UMLS:C0032339 semapv:UnspecifiedMatching MONDO:0010002 Rothmund-Thomson syndrome skos:exactMatch icd11.foundation:652761118 Rothmund-Thomson syndrome semapv:UnspecifiedMatching MONDO:0010002 Rothmund-Thomson syndrome skos:exactMatch mesh:D011038 semapv:UnspecifiedMatching MONDO:0010003 Rowley-Rosenberg syndrome skos:exactMatch MEDGEN:120638 semapv:UnspecifiedMatching MONDO:0010003 Rowley-Rosenberg syndrome skos:exactMatch OMIM:268500 rowley-rosenberg syndrome semapv:UnspecifiedMatching MONDO:0010003 Rowley-Rosenberg syndrome skos:exactMatch SCTID:53783003 semapv:UnspecifiedMatching MONDO:0010003 Rowley-Rosenberg syndrome skos:exactMatch UMLS:C0268426 semapv:UnspecifiedMatching MONDO:0010003 Rowley-Rosenberg syndrome skos:exactMatch mesh:C535874 semapv:UnspecifiedMatching MONDO:0010004 EEC syndrome skos:exactMatch DOID:0060782 EEC syndrome semapv:UnspecifiedMatching MONDO:0010004 EEC syndrome skos:exactMatch MEDGEN:98357 semapv:UnspecifiedMatching MONDO:0010004 EEC syndrome skos:exactMatch NCIT:C148261 Ectrodactyly-Ectodermal Dysplasia-Cleft Syndrome semapv:UnspecifiedMatching MONDO:0010004 EEC syndrome skos:exactMatch OMIM:268650 rudiger syndrome semapv:UnspecifiedMatching MONDO:0010004 EEC syndrome skos:exactMatch Orphanet:1896 EEC syndrome semapv:UnspecifiedMatching MONDO:0010004 EEC syndrome skos:exactMatch SCTID:39788007 semapv:UnspecifiedMatching MONDO:0010004 EEC syndrome skos:exactMatch UMLS:C0406704 semapv:UnspecifiedMatching MONDO:0010004 EEC syndrome skos:exactMatch mesh:C536189 semapv:UnspecifiedMatching MONDO:0010005 saccharopinuria skos:exactMatch MEDGEN:75693 semapv:UnspecifiedMatching MONDO:0010005 saccharopinuria skos:exactMatch OMIM:268700 saccharopinuria semapv:UnspecifiedMatching MONDO:0010005 saccharopinuria skos:exactMatch Orphanet:3124 Saccharopinuria semapv:UnspecifiedMatching MONDO:0010005 saccharopinuria skos:exactMatch SCTID:111397004 semapv:UnspecifiedMatching MONDO:0010005 saccharopinuria skos:exactMatch UMLS:C0268556 semapv:UnspecifiedMatching MONDO:0010005 saccharopinuria skos:exactMatch mesh:C537218 semapv:UnspecifiedMatching MONDO:0010006 Sandhoff disease skos:exactMatch DOID:3323 Sandhoff disease semapv:UnspecifiedMatching MONDO:0010006 Sandhoff disease skos:exactMatch ICD10CM:E75.01 Sandhoff disease semapv:UnspecifiedMatching MONDO:0010006 Sandhoff disease skos:exactMatch MEDGEN:11313 semapv:UnspecifiedMatching MONDO:0010006 Sandhoff disease skos:exactMatch NCIT:C85052 Sandhoff Disease semapv:UnspecifiedMatching MONDO:0010006 Sandhoff disease skos:exactMatch OMIM:268800 sandhoff disease semapv:UnspecifiedMatching MONDO:0010006 Sandhoff disease skos:exactMatch Orphanet:796 Sandhoff disease semapv:UnspecifiedMatching MONDO:0010006 Sandhoff disease skos:exactMatch SCTID:23849003 semapv:UnspecifiedMatching MONDO:0010006 Sandhoff disease skos:exactMatch UMLS:C0036161 semapv:UnspecifiedMatching MONDO:0010006 Sandhoff disease skos:exactMatch icd11.foundation:708581915 Sandhoff disease semapv:UnspecifiedMatching MONDO:0010006 Sandhoff disease skos:exactMatch mesh:D012497 semapv:UnspecifiedMatching MONDO:0010007 microbrachycephaly-ptosis-cleft lip syndrome skos:exactMatch MEDGEN:162914 semapv:UnspecifiedMatching MONDO:0010007 microbrachycephaly-ptosis-cleft lip syndrome skos:exactMatch OMIM:268850 richieri-costa/guion-almeida syndrome semapv:UnspecifiedMatching MONDO:0010007 microbrachycephaly-ptosis-cleft lip syndrome skos:exactMatch Orphanet:2511 Microbrachycephaly-ptosis-cleft lip syndrome semapv:UnspecifiedMatching MONDO:0010007 microbrachycephaly-ptosis-cleft lip syndrome skos:exactMatch UMLS:C0796142 semapv:UnspecifiedMatching MONDO:0010008 sarcosinemia skos:exactMatch DOID:0112307 sarcosinemia semapv:UnspecifiedMatching MONDO:0010008 sarcosinemia skos:exactMatch MEDGEN:120651 semapv:UnspecifiedMatching MONDO:0010008 sarcosinemia skos:exactMatch OMIM:268900 sarcosinemia semapv:UnspecifiedMatching MONDO:0010008 sarcosinemia skos:exactMatch Orphanet:3129 Sarcosinemia semapv:UnspecifiedMatching MONDO:0010008 sarcosinemia skos:exactMatch SCTID:64852002 semapv:UnspecifiedMatching MONDO:0010008 sarcosinemia skos:exactMatch UMLS:C0268563 semapv:UnspecifiedMatching MONDO:0010008 sarcosinemia skos:exactMatch icd11.foundation:1901733714 Sarcosinaemia semapv:UnspecifiedMatching MONDO:0010008 sarcosinemia skos:exactMatch mesh:C537236 semapv:UnspecifiedMatching MONDO:0010010 Schinzel-Giedion syndrome skos:exactMatch DOID:0070509 Schinzel Giedion syndrome semapv:UnspecifiedMatching MONDO:0010010 Schinzel-Giedion syndrome skos:exactMatch MEDGEN:120517 semapv:UnspecifiedMatching MONDO:0010010 Schinzel-Giedion syndrome skos:exactMatch NCIT:C129308 Schinzel-Giedion Midface-Retraction Syndrome semapv:UnspecifiedMatching MONDO:0010010 Schinzel-Giedion syndrome skos:exactMatch OMIM:269150 schinzel-giedion midface retraction syndrome semapv:UnspecifiedMatching MONDO:0010010 Schinzel-Giedion syndrome skos:exactMatch Orphanet:798 Schinzel-Giedion syndrome semapv:UnspecifiedMatching MONDO:0010010 Schinzel-Giedion syndrome skos:exactMatch SCTID:18899000 semapv:UnspecifiedMatching MONDO:0010010 Schinzel-Giedion syndrome skos:exactMatch UMLS:C0265227 semapv:UnspecifiedMatching MONDO:0010010 Schinzel-Giedion syndrome skos:exactMatch icd11.foundation:1542318431 Schinzel-Giedion syndrome semapv:UnspecifiedMatching MONDO:0010010 Schinzel-Giedion syndrome skos:exactMatch mesh:C536632 semapv:UnspecifiedMatching MONDO:0010011 schizencephaly skos:exactMatch MEDGEN:78606 semapv:UnspecifiedMatching MONDO:0010011 schizencephaly skos:exactMatch NCIT:C99056 Schizencephaly semapv:UnspecifiedMatching MONDO:0010011 schizencephaly skos:exactMatch OMIM:269160 schizencephaly semapv:UnspecifiedMatching MONDO:0010011 schizencephaly skos:exactMatch Orphanet:799 Schizencephaly semapv:UnspecifiedMatching MONDO:0010011 schizencephaly skos:exactMatch SCTID:253159001 semapv:UnspecifiedMatching MONDO:0010011 schizencephaly skos:exactMatch UMLS:C0266484 semapv:UnspecifiedMatching MONDO:0010011 schizencephaly skos:exactMatch icd11.foundation:1693546163 Schizencephaly semapv:UnspecifiedMatching MONDO:0010011 schizencephaly skos:exactMatch mesh:D065707 semapv:UnspecifiedMatching MONDO:0010012 autoimmune polyendocrinopathy type 2 skos:exactMatch DOID:0050168 autoimmune polyendocrine syndrome type 2 semapv:UnspecifiedMatching MONDO:0010012 autoimmune polyendocrinopathy type 2 skos:exactMatch MEDGEN:39126 semapv:UnspecifiedMatching MONDO:0010012 autoimmune polyendocrinopathy type 2 skos:exactMatch NCIT:C129728 Autoimmune Polyglandular Syndrome Type 2 semapv:UnspecifiedMatching MONDO:0010012 autoimmune polyendocrinopathy type 2 skos:exactMatch OMIM:269200 autoimmune polyendocrine syndrome, type 2 semapv:UnspecifiedMatching MONDO:0010012 autoimmune polyendocrinopathy type 2 skos:exactMatch Orphanet:3143 Autoimmune polyendocrinopathy type 2 semapv:UnspecifiedMatching MONDO:0010012 autoimmune polyendocrinopathy type 2 skos:exactMatch SCTID:83728000 semapv:UnspecifiedMatching MONDO:0010012 autoimmune polyendocrinopathy type 2 skos:exactMatch UMLS:C0085860 semapv:UnspecifiedMatching MONDO:0010012 autoimmune polyendocrinopathy type 2 skos:exactMatch icd11.foundation:1065249344 Autoimmune polyendocrinopathy type 2 semapv:UnspecifiedMatching MONDO:0010013 schneckenbecken dysplasia skos:exactMatch DOID:0050775 schneckenbecken dysplasia semapv:UnspecifiedMatching MONDO:0010013 schneckenbecken dysplasia skos:exactMatch MEDGEN:98475 semapv:UnspecifiedMatching MONDO:0010013 schneckenbecken dysplasia skos:exactMatch OMIM:269250 schneckenbecken dysplasia semapv:UnspecifiedMatching MONDO:0010013 schneckenbecken dysplasia skos:exactMatch Orphanet:3144 Schneckenbecken dysplasia semapv:UnspecifiedMatching MONDO:0010013 schneckenbecken dysplasia skos:exactMatch SCTID:254049009 semapv:UnspecifiedMatching MONDO:0010013 schneckenbecken dysplasia skos:exactMatch UMLS:C0432194 semapv:UnspecifiedMatching MONDO:0010013 schneckenbecken dysplasia skos:exactMatch icd11.foundation:584032448 Schneckenbecken dysplasia semapv:UnspecifiedMatching MONDO:0010013 schneckenbecken dysplasia skos:exactMatch mesh:C536637 semapv:UnspecifiedMatching MONDO:0010014 craniometadiaphyseal dysplasia, wormian bone type skos:exactMatch MEDGEN:1382152 semapv:UnspecifiedMatching MONDO:0010014 craniometadiaphyseal dysplasia, wormian bone type skos:exactMatch OMIM:269300 craniometadiaphyseal dysplasia semapv:UnspecifiedMatching MONDO:0010014 craniometadiaphyseal dysplasia, wormian bone type skos:exactMatch Orphanet:85184 Craniometadiaphyseal dysplasia, wormian bone type semapv:UnspecifiedMatching MONDO:0010014 craniometadiaphyseal dysplasia, wormian bone type skos:exactMatch SCTID:278833002 semapv:UnspecifiedMatching MONDO:0010014 craniometadiaphyseal dysplasia, wormian bone type skos:exactMatch UMLS:C4510809 semapv:UnspecifiedMatching MONDO:0010014 craniometadiaphyseal dysplasia, wormian bone type skos:exactMatch icd11.foundation:1055011248 Craniometadiaphyseal dysplasia, Wormian bone type semapv:UnspecifiedMatching MONDO:0010015 anterior segment dysgenesis 7 skos:exactMatch DOID:0080612 anterior segment dysgenesis 7 semapv:UnspecifiedMatching MONDO:0010015 anterior segment dysgenesis 7 skos:exactMatch MEDGEN:462967 semapv:UnspecifiedMatching MONDO:0010015 anterior segment dysgenesis 7 skos:exactMatch OMIM:269400 anterior segment dysgenesis 7 semapv:UnspecifiedMatching MONDO:0010015 anterior segment dysgenesis 7 skos:exactMatch Orphanet:289499 Congenital cataract microcornea with corneal opacity semapv:UnspecifiedMatching MONDO:0010015 anterior segment dysgenesis 7 skos:exactMatch UMLS:C3151617 semapv:UnspecifiedMatching MONDO:0010016 sclerosteosis 1 skos:exactMatch DOID:0060756 sclerosteosis 1 semapv:UnspecifiedMatching MONDO:0010016 sclerosteosis 1 skos:exactMatch MEDGEN:1642815 semapv:UnspecifiedMatching MONDO:0010016 sclerosteosis 1 skos:exactMatch OMIM:269500 sclerosteosis 1 semapv:UnspecifiedMatching MONDO:0010016 sclerosteosis 1 skos:exactMatch UMLS:C4551483 semapv:UnspecifiedMatching MONDO:0010017 sea-blue histiocyte syndrome skos:exactMatch DOID:4423 sea-blue histiocytosis semapv:UnspecifiedMatching MONDO:0010017 sea-blue histiocyte syndrome skos:exactMatch MEDGEN:19908 semapv:UnspecifiedMatching MONDO:0010017 sea-blue histiocyte syndrome skos:exactMatch NCIT:C85062 Sea-Blue Histiocyte Syndrome semapv:UnspecifiedMatching MONDO:0010017 sea-blue histiocyte syndrome skos:exactMatch OMIM:269600 sea-blue histiocyte disease semapv:UnspecifiedMatching MONDO:0010017 sea-blue histiocyte syndrome skos:exactMatch SCTID:37821003 semapv:UnspecifiedMatching MONDO:0010017 sea-blue histiocyte syndrome skos:exactMatch UMLS:C0036489 semapv:UnspecifiedMatching MONDO:0010017 sea-blue histiocyte syndrome skos:exactMatch mesh:D012618 semapv:UnspecifiedMatching MONDO:0010018 second metatarsal-metacarpal syndrome skos:exactMatch MEDGEN:341415 semapv:UnspecifiedMatching MONDO:0010018 second metatarsal-metacarpal syndrome skos:exactMatch OMIM:269630 second metatarsal-metacarpal syndrome semapv:UnspecifiedMatching MONDO:0010018 second metatarsal-metacarpal syndrome skos:exactMatch UMLS:C1849259 semapv:UnspecifiedMatching MONDO:0010018 second metatarsal-metacarpal syndrome skos:exactMatch mesh:C564824 semapv:UnspecifiedMatching MONDO:0010019 secretory component deficiency skos:exactMatch MEDGEN:140769 semapv:UnspecifiedMatching MONDO:0010019 secretory component deficiency skos:exactMatch OMIM:269650 secretory component deficiency semapv:UnspecifiedMatching MONDO:0010019 secretory component deficiency skos:exactMatch SCTID:234554004 semapv:UnspecifiedMatching MONDO:0010019 secretory component deficiency skos:exactMatch UMLS:C0398709 semapv:UnspecifiedMatching MONDO:0010019 secretory component deficiency skos:exactMatch mesh:C562869 semapv:UnspecifiedMatching MONDO:0010020 congenital generalized lipodystrophy type 2 skos:exactMatch DOID:0111136 congenital generalized lipodystrophy type 2 semapv:UnspecifiedMatching MONDO:0010020 congenital generalized lipodystrophy type 2 skos:exactMatch MEDGEN:318593 semapv:UnspecifiedMatching MONDO:0010020 congenital generalized lipodystrophy type 2 skos:exactMatch OMIM:269700 lipodystrophy, congenital generalized, type 2 semapv:UnspecifiedMatching MONDO:0010020 congenital generalized lipodystrophy type 2 skos:exactMatch Orphanet:696289 Congenital generalized lipodystrophy type 2 semapv:UnspecifiedMatching MONDO:0010020 congenital generalized lipodystrophy type 2 skos:exactMatch UMLS:C1720863 semapv:UnspecifiedMatching MONDO:0010021 seizures, benign familial neonatal, autosomal recessive skos:exactMatch MEDGEN:338640 semapv:UnspecifiedMatching MONDO:0010021 seizures, benign familial neonatal, autosomal recessive skos:exactMatch OMIM:269720 seizures, benign familial neonatal, autosomal recessive semapv:UnspecifiedMatching MONDO:0010021 seizures, benign familial neonatal, autosomal recessive skos:exactMatch UMLS:C1849250 semapv:UnspecifiedMatching MONDO:0010021 seizures, benign familial neonatal, autosomal recessive skos:exactMatch mesh:C564823 semapv:UnspecifiedMatching MONDO:0010022 senile plaque formation skos:exactMatch MEDGEN:338639 semapv:UnspecifiedMatching MONDO:0010022 senile plaque formation skos:exactMatch OMIM:269800 senile plaque formation semapv:UnspecifiedMatching MONDO:0010022 senile plaque formation skos:exactMatch UMLS:C1849249 semapv:UnspecifiedMatching MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency skos:exactMatch DOID:0111943 immunodeficiency 48 semapv:UnspecifiedMatching MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency skos:exactMatch MEDGEN:419767 semapv:UnspecifiedMatching MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency skos:exactMatch OMIM:269840 immunodeficiency 48 semapv:UnspecifiedMatching MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency skos:exactMatch Orphanet:911 Combined immunodeficiency due to ZAP70 deficiency semapv:UnspecifiedMatching MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency skos:exactMatch SCTID:716378008 semapv:UnspecifiedMatching MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency skos:exactMatch UMLS:C2931299 semapv:UnspecifiedMatching MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency skos:exactMatch icd11.foundation:1718367094 Combined immunodeficiency due to ZAP70 deficiency semapv:UnspecifiedMatching MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency skos:exactMatch mesh:C536722 semapv:UnspecifiedMatching MONDO:0010024 Beemer-Langer syndrome skos:exactMatch DOID:9249 Beemer-Langer syndrome semapv:UnspecifiedMatching MONDO:0010024 Beemer-Langer syndrome skos:exactMatch MEDGEN:96578 semapv:UnspecifiedMatching MONDO:0010024 Beemer-Langer syndrome skos:exactMatch OMIM:269860 short-rib thoracic dysplasia 12 semapv:UnspecifiedMatching MONDO:0010024 Beemer-Langer syndrome skos:exactMatch Orphanet:93268 Short rib-polydactyly syndrome, Beemer-Langer type semapv:UnspecifiedMatching MONDO:0010024 Beemer-Langer syndrome skos:exactMatch SCTID:254052001 semapv:UnspecifiedMatching MONDO:0010024 Beemer-Langer syndrome skos:exactMatch UMLS:C0432198 semapv:UnspecifiedMatching MONDO:0010024 Beemer-Langer syndrome skos:exactMatch mesh:C537599 semapv:UnspecifiedMatching MONDO:0010025 short stature-obesity syndrome skos:exactMatch MEDGEN:341410 semapv:UnspecifiedMatching MONDO:0010025 short stature-obesity syndrome skos:exactMatch OMIM:269870 short stature-obesity syndrome semapv:UnspecifiedMatching MONDO:0010025 short stature-obesity syndrome skos:exactMatch UMLS:C1849235 semapv:UnspecifiedMatching MONDO:0010025 short stature-obesity syndrome skos:exactMatch mesh:C564821 semapv:UnspecifiedMatching MONDO:0010026 SHORT syndrome skos:exactMatch DOID:0111454 SHORT syndrome semapv:UnspecifiedMatching MONDO:0010026 SHORT syndrome skos:exactMatch MEDGEN:164212 semapv:UnspecifiedMatching MONDO:0010026 SHORT syndrome skos:exactMatch OMIM:269880 short syndrome semapv:UnspecifiedMatching MONDO:0010026 SHORT syndrome skos:exactMatch Orphanet:3163 SHORT syndrome semapv:UnspecifiedMatching MONDO:0010026 SHORT syndrome skos:exactMatch UMLS:C0878684 semapv:UnspecifiedMatching MONDO:0010026 SHORT syndrome skos:exactMatch icd11.foundation:1264512044 SHORT syndrome semapv:UnspecifiedMatching MONDO:0010026 SHORT syndrome skos:exactMatch mesh:C537327 semapv:UnspecifiedMatching MONDO:0010027 free sialic acid storage disease, infantile form skos:exactMatch MEDGEN:203367 semapv:UnspecifiedMatching MONDO:0010027 free sialic acid storage disease, infantile form skos:exactMatch OMIM:269920 infantile sialic acid storage disease semapv:UnspecifiedMatching MONDO:0010027 free sialic acid storage disease, infantile form skos:exactMatch Orphanet:309324 Free sialic acid storage disease, infantile form semapv:UnspecifiedMatching MONDO:0010027 free sialic acid storage disease, infantile form skos:exactMatch SCTID:34566007 semapv:UnspecifiedMatching MONDO:0010027 free sialic acid storage disease, infantile form skos:exactMatch UMLS:C1096902 semapv:UnspecifiedMatching MONDO:0010028 sialuria skos:exactMatch DOID:3659 sialuria semapv:UnspecifiedMatching MONDO:0010028 sialuria skos:exactMatch MEDGEN:137980 semapv:UnspecifiedMatching MONDO:0010028 sialuria skos:exactMatch OMIM:269921 sialuria semapv:UnspecifiedMatching MONDO:0010028 sialuria skos:exactMatch Orphanet:3166 Sialuria semapv:UnspecifiedMatching MONDO:0010028 sialuria skos:exactMatch SCTID:238051008 semapv:UnspecifiedMatching MONDO:0010028 sialuria skos:exactMatch UMLS:C0342853 semapv:UnspecifiedMatching MONDO:0010028 sialuria skos:exactMatch icd11.foundation:154329034 Sialuria semapv:UnspecifiedMatching MONDO:0010029 situs inversus skos:exactMatch DOID:758 visceral heterotaxy 5 semapv:UnspecifiedMatching MONDO:0010029 situs inversus skos:exactMatch ICD10CM:Q89.3 Situs inversus semapv:UnspecifiedMatching MONDO:0010029 situs inversus skos:exactMatch MEDGEN:1642262 semapv:UnspecifiedMatching MONDO:0010029 situs inversus skos:exactMatch NCIT:C87121 Situs Inversus semapv:UnspecifiedMatching MONDO:0010029 situs inversus skos:exactMatch Orphanet:101063 Situs inversus totalis semapv:UnspecifiedMatching MONDO:0010029 situs inversus skos:exactMatch SCTID:24614000 semapv:UnspecifiedMatching MONDO:0010029 situs inversus skos:exactMatch UMLS:C4551493 semapv:UnspecifiedMatching MONDO:0010029 situs inversus skos:exactMatch icd11.foundation:797648408 Total mirror imagery semapv:UnspecifiedMatching MONDO:0010029 situs inversus skos:exactMatch mesh:D012857 semapv:UnspecifiedMatching MONDO:0010030 Sjogren syndrome skos:exactMatch DOID:12894 Sjogren's syndrome semapv:UnspecifiedMatching MONDO:0010030 Sjogren syndrome skos:exactMatch EFO:0000699 semapv:UnspecifiedMatching MONDO:0010030 Sjogren syndrome skos:exactMatch ICD10CM:M35.0 Sjögren syndrome semapv:UnspecifiedMatching MONDO:0010030 Sjogren syndrome skos:exactMatch MEDGEN:282890 semapv:UnspecifiedMatching MONDO:0010030 Sjogren syndrome skos:exactMatch NCIT:C26883 Sjogren Syndrome semapv:UnspecifiedMatching MONDO:0010030 Sjogren syndrome skos:exactMatch OMIM:270150 sjogren syndrome semapv:UnspecifiedMatching MONDO:0010030 Sjogren syndrome skos:exactMatch Orphanet:289390 Primary Sjögren disease semapv:UnspecifiedMatching MONDO:0010030 Sjogren syndrome skos:exactMatch SCTID:83901003 semapv:UnspecifiedMatching MONDO:0010030 Sjogren syndrome skos:exactMatch UMLS:C1527336 semapv:UnspecifiedMatching MONDO:0010030 Sjogren syndrome skos:exactMatch icd11.foundation:899463360 Primary Sjgren syndrome semapv:UnspecifiedMatching MONDO:0010030 Sjogren syndrome skos:exactMatch mesh:D012859 semapv:UnspecifiedMatching MONDO:0010031 Sjogren-Larsson syndrome skos:exactMatch DOID:14501 Sjogren-Larsson syndrome semapv:UnspecifiedMatching MONDO:0010031 Sjogren-Larsson syndrome skos:exactMatch MEDGEN:11443 semapv:UnspecifiedMatching MONDO:0010031 Sjogren-Larsson syndrome skos:exactMatch NCIT:C85070 Sjogren-Larsson Syndrome semapv:UnspecifiedMatching MONDO:0010031 Sjogren-Larsson syndrome skos:exactMatch OMIM:270200 sjogren-larsson syndrome semapv:UnspecifiedMatching MONDO:0010031 Sjogren-Larsson syndrome skos:exactMatch Orphanet:816 Sjögren-Larsson syndrome semapv:UnspecifiedMatching MONDO:0010031 Sjogren-Larsson syndrome skos:exactMatch SCTID:111303009 semapv:UnspecifiedMatching MONDO:0010031 Sjogren-Larsson syndrome skos:exactMatch UMLS:C0037231 semapv:UnspecifiedMatching MONDO:0010031 Sjogren-Larsson syndrome skos:exactMatch icd11.foundation:418359090 Sjgren-Larsson syndrome semapv:UnspecifiedMatching MONDO:0010031 Sjogren-Larsson syndrome skos:exactMatch mesh:D016111 semapv:UnspecifiedMatching MONDO:0010032 Sjogren-Larsson-like ichthyosis without CNS or eye involvement skos:exactMatch MEDGEN:336532 semapv:UnspecifiedMatching MONDO:0010032 Sjogren-Larsson-like ichthyosis without CNS or eye involvement skos:exactMatch OMIM:270220 sjogren-larsson-like ichthyosis without cns or eye involvement semapv:UnspecifiedMatching MONDO:0010032 Sjogren-Larsson-like ichthyosis without CNS or eye involvement skos:exactMatch UMLS:C1849195 semapv:UnspecifiedMatching MONDO:0010032 Sjogren-Larsson-like ichthyosis without CNS or eye involvement skos:exactMatch mesh:C536668 semapv:UnspecifiedMatching MONDO:0010033 generalized peeling skin syndrome skos:exactMatch MEDGEN:930825 semapv:UnspecifiedMatching MONDO:0010033 generalized peeling skin syndrome skos:exactMatch Orphanet:263543 Generalized peeling skin syndrome semapv:UnspecifiedMatching MONDO:0010033 generalized peeling skin syndrome skos:exactMatch SCTID:718749004 semapv:UnspecifiedMatching MONDO:0010033 generalized peeling skin syndrome skos:exactMatch UMLS:C4305156 semapv:UnspecifiedMatching MONDO:0010034 obsolete anosmia for butyl mercaptan skos:exactMatch OMIM:270350 anosmia for butyl mercaptan semapv:UnspecifiedMatching MONDO:0010035 Smith-Lemli-Opitz syndrome skos:exactMatch DOID:14692 Smith-Lemli-Opitz syndrome semapv:UnspecifiedMatching MONDO:0010035 Smith-Lemli-Opitz syndrome skos:exactMatch ICD10CM:E78.72 Smith-Lemli-Opitz syndrome semapv:UnspecifiedMatching MONDO:0010035 Smith-Lemli-Opitz syndrome skos:exactMatch MEDGEN:61231 semapv:UnspecifiedMatching MONDO:0010035 Smith-Lemli-Opitz syndrome skos:exactMatch NCIT:C85071 Smith-Lemli-Opitz Syndrome semapv:UnspecifiedMatching MONDO:0010035 Smith-Lemli-Opitz syndrome skos:exactMatch OMIM:270400 smith-lemli-opitz syndrome semapv:UnspecifiedMatching MONDO:0010035 Smith-Lemli-Opitz syndrome skos:exactMatch Orphanet:818 Smith-Lemli-Opitz syndrome semapv:UnspecifiedMatching MONDO:0010035 Smith-Lemli-Opitz syndrome skos:exactMatch SCTID:43929004 semapv:UnspecifiedMatching MONDO:0010035 Smith-Lemli-Opitz syndrome skos:exactMatch UMLS:C0175694 semapv:UnspecifiedMatching MONDO:0010035 Smith-Lemli-Opitz syndrome skos:exactMatch icd11.foundation:1231469858 Smith-Lemli-Opitz syndrome semapv:UnspecifiedMatching MONDO:0010035 Smith-Lemli-Opitz syndrome skos:exactMatch mesh:D019082 semapv:UnspecifiedMatching MONDO:0010036 congenital secretory sodium diarrhea 3 skos:exactMatch DOID:0060781 congenital secretory sodium diarrhea 3 semapv:UnspecifiedMatching MONDO:0010036 congenital secretory sodium diarrhea 3 skos:exactMatch MEDGEN:1778108 semapv:UnspecifiedMatching MONDO:0010036 congenital secretory sodium diarrhea 3 skos:exactMatch OMIM:270420 diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies semapv:UnspecifiedMatching MONDO:0010036 congenital secretory sodium diarrhea 3 skos:exactMatch UMLS:C5441927 semapv:UnspecifiedMatching MONDO:0010037 sodium-potassium-ATPase activity of red cell skos:exactMatch MEDGEN:376532 semapv:UnspecifiedMatching MONDO:0010037 sodium-potassium-ATPase activity of red cell skos:exactMatch OMIM:270425 sodium-potassium-atpase activity of red cell semapv:UnspecifiedMatching MONDO:0010037 sodium-potassium-ATPase activity of red cell skos:exactMatch UMLS:C1849169 semapv:UnspecifiedMatching MONDO:0010038 growth delay due to insulin-like growth factor I resistance skos:exactMatch MEDGEN:338622 semapv:UnspecifiedMatching MONDO:0010038 growth delay due to insulin-like growth factor I resistance skos:exactMatch OMIM:270450 insulin-like growth factor i, resistance to semapv:UnspecifiedMatching MONDO:0010038 growth delay due to insulin-like growth factor I resistance skos:exactMatch Orphanet:73273 Growth delay due to insulin-like growth factor I resistance semapv:UnspecifiedMatching MONDO:0010038 growth delay due to insulin-like growth factor I resistance skos:exactMatch SCTID:715625007 semapv:UnspecifiedMatching MONDO:0010038 growth delay due to insulin-like growth factor I resistance skos:exactMatch UMLS:C1849157 semapv:UnspecifiedMatching MONDO:0010038 growth delay due to insulin-like growth factor I resistance skos:exactMatch icd11.foundation:272435490 Growth delay due to insulin-like growth factor I resistance semapv:UnspecifiedMatching MONDO:0010038 growth delay due to insulin-like growth factor I resistance skos:exactMatch mesh:C564816 semapv:UnspecifiedMatching MONDO:0010039 congenital heart defect-round face-developmental delay syndrome skos:exactMatch MEDGEN:167108 semapv:UnspecifiedMatching MONDO:0010039 congenital heart defect-round face-developmental delay syndrome skos:exactMatch OMIM:270460 sonoda syndrome semapv:UnspecifiedMatching MONDO:0010039 congenital heart defect-round face-developmental delay syndrome skos:exactMatch Orphanet:1355 Congenital heart defect-round face-developmental delay syndrome semapv:UnspecifiedMatching MONDO:0010039 congenital heart defect-round face-developmental delay syndrome skos:exactMatch SCTID:715987000 semapv:UnspecifiedMatching MONDO:0010039 congenital heart defect-round face-developmental delay syndrome skos:exactMatch UMLS:C0796162 semapv:UnspecifiedMatching MONDO:0010039 congenital heart defect-round face-developmental delay syndrome skos:exactMatch mesh:C536680 semapv:UnspecifiedMatching MONDO:0010040 ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and intellectual disability skos:exactMatch MEDGEN:462969 semapv:UnspecifiedMatching MONDO:0010040 ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and intellectual disability skos:exactMatch OMIM:270500 ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and impaired intellectual development semapv:UnspecifiedMatching MONDO:0010040 ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and intellectual disability skos:exactMatch UMLS:C3151619 semapv:UnspecifiedMatching MONDO:0010041 Charlevoix-Saguenay spastic ataxia skos:exactMatch DOID:0050946 Charlevoix-Saguenay spastic ataxia semapv:UnspecifiedMatching MONDO:0010041 Charlevoix-Saguenay spastic ataxia skos:exactMatch MEDGEN:338620 semapv:UnspecifiedMatching MONDO:0010041 Charlevoix-Saguenay spastic ataxia skos:exactMatch OMIM:270550 spastic ataxia, charlevoix-saguenay type semapv:UnspecifiedMatching MONDO:0010041 Charlevoix-Saguenay spastic ataxia skos:exactMatch Orphanet:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay semapv:UnspecifiedMatching MONDO:0010041 Charlevoix-Saguenay spastic ataxia skos:exactMatch SCTID:702445005 semapv:UnspecifiedMatching MONDO:0010041 Charlevoix-Saguenay spastic ataxia skos:exactMatch UMLS:C1849140 semapv:UnspecifiedMatching MONDO:0010041 Charlevoix-Saguenay spastic ataxia skos:exactMatch mesh:C536787 semapv:UnspecifiedMatching MONDO:0010042 spastic diplegia and intellectual disability skos:exactMatch MEDGEN:376526 semapv:UnspecifiedMatching MONDO:0010042 spastic diplegia and intellectual disability skos:exactMatch OMIM:270600 spastic diplegia and impaired intellectual development semapv:UnspecifiedMatching MONDO:0010042 spastic diplegia and intellectual disability skos:exactMatch UMLS:C1849139 semapv:UnspecifiedMatching MONDO:0010042 spastic diplegia and intellectual disability skos:exactMatch mesh:C537481 semapv:UnspecifiedMatching MONDO:0010043 hereditary spastic paraplegia 17 skos:exactMatch DOID:0110770 hereditary spastic paraplegia 17 semapv:UnspecifiedMatching MONDO:0010043 hereditary spastic paraplegia 17 skos:exactMatch MEDGEN:419034 semapv:UnspecifiedMatching MONDO:0010043 hereditary spastic paraplegia 17 skos:exactMatch OMIM:270685 spastic paraplegia 17, autosomal dominant semapv:UnspecifiedMatching MONDO:0010043 hereditary spastic paraplegia 17 skos:exactMatch Orphanet:100998 Autosomal dominant spastic paraplegia type 17 semapv:UnspecifiedMatching MONDO:0010043 hereditary spastic paraplegia 17 skos:exactMatch UMLS:C2931276 semapv:UnspecifiedMatching MONDO:0010043 hereditary spastic paraplegia 17 skos:exactMatch mesh:C536644 semapv:UnspecifiedMatching MONDO:0010044 hereditary spastic paraplegia 15 skos:exactMatch DOID:0110768 hereditary spastic paraplegia 15 semapv:UnspecifiedMatching MONDO:0010044 hereditary spastic paraplegia 15 skos:exactMatch MEDGEN:341387 semapv:UnspecifiedMatching MONDO:0010044 hereditary spastic paraplegia 15 skos:exactMatch OMIM:270700 spastic paraplegia 15, autosomal recessive semapv:UnspecifiedMatching MONDO:0010044 hereditary spastic paraplegia 15 skos:exactMatch Orphanet:100996 Autosomal recessive spastic paraplegia type 15 semapv:UnspecifiedMatching MONDO:0010044 hereditary spastic paraplegia 15 skos:exactMatch SCTID:709417000 semapv:UnspecifiedMatching MONDO:0010044 hereditary spastic paraplegia 15 skos:exactMatch UMLS:C1849128 semapv:UnspecifiedMatching MONDO:0010044 hereditary spastic paraplegia 15 skos:exactMatch mesh:C536642 semapv:UnspecifiedMatching MONDO:0010045 obsolete paraplegia-brachydactyly-cone-shaped epiphysis syndrome skos:exactMatch OMIM:270710 semapv:UnspecifiedMatching MONDO:0010045 obsolete paraplegia-brachydactyly-cone-shaped epiphysis syndrome skos:exactMatch Orphanet:2823 OBSOLETE: Paraplegia-brachydactyly-cone-shaped epiphysis syndrome semapv:UnspecifiedMatching MONDO:0010045 obsolete paraplegia-brachydactyly-cone-shaped epiphysis syndrome skos:exactMatch mesh:C537938 semapv:UnspecifiedMatching MONDO:0010046 hereditary spastic paraplegia 23 skos:exactMatch DOID:0110774 hereditary spastic paraplegia 23 semapv:UnspecifiedMatching MONDO:0010046 hereditary spastic paraplegia 23 skos:exactMatch MEDGEN:167094 semapv:UnspecifiedMatching MONDO:0010046 hereditary spastic paraplegia 23 skos:exactMatch OMIM:270750 spastic paraplegia 23, autosomal recessive semapv:UnspecifiedMatching MONDO:0010046 hereditary spastic paraplegia 23 skos:exactMatch Orphanet:101003 Autosomal recessive spastic paraplegia type 23 semapv:UnspecifiedMatching MONDO:0010046 hereditary spastic paraplegia 23 skos:exactMatch SCTID:726608002 semapv:UnspecifiedMatching MONDO:0010046 hereditary spastic paraplegia 23 skos:exactMatch UMLS:C0796019 semapv:UnspecifiedMatching MONDO:0010046 hereditary spastic paraplegia 23 skos:exactMatch mesh:C536859 semapv:UnspecifiedMatching MONDO:0010047 hereditary spastic paraplegia 5A skos:exactMatch DOID:0110810 hereditary spastic paraplegia 5A semapv:UnspecifiedMatching MONDO:0010047 hereditary spastic paraplegia 5A skos:exactMatch MEDGEN:376521 semapv:UnspecifiedMatching MONDO:0010047 hereditary spastic paraplegia 5A skos:exactMatch OMIM:270800 spastic paraplegia 5a, autosomal recessive semapv:UnspecifiedMatching MONDO:0010047 hereditary spastic paraplegia 5A skos:exactMatch Orphanet:100986 Autosomal recessive spastic paraplegia type 5A semapv:UnspecifiedMatching MONDO:0010047 hereditary spastic paraplegia 5A skos:exactMatch SCTID:763373005 semapv:UnspecifiedMatching MONDO:0010047 hereditary spastic paraplegia 5A skos:exactMatch UMLS:C1849115 semapv:UnspecifiedMatching MONDO:0010048 spastic paraplegia with myoclonic epilepsy skos:exactMatch MEDGEN:338615 semapv:UnspecifiedMatching MONDO:0010048 spastic paraplegia with myoclonic epilepsy skos:exactMatch OMIM:270805 spastic paraplegia with myoclonic epilepsy semapv:UnspecifiedMatching MONDO:0010048 spastic paraplegia with myoclonic epilepsy skos:exactMatch UMLS:C1849114 semapv:UnspecifiedMatching MONDO:0010048 spastic paraplegia with myoclonic epilepsy skos:exactMatch mesh:C564810 semapv:UnspecifiedMatching MONDO:0010049 spastic paraplegia-glaucoma-intellectual disability syndrome skos:exactMatch MEDGEN:376520 semapv:UnspecifiedMatching MONDO:0010049 spastic paraplegia-glaucoma-intellectual disability syndrome skos:exactMatch OMIM:270850 spastic paresis, glaucoma, and impaired intellectual development semapv:UnspecifiedMatching MONDO:0010049 spastic paraplegia-glaucoma-intellectual disability syndrome skos:exactMatch Orphanet:2818 Spastic paraplegia-glaucoma-intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0010049 spastic paraplegia-glaucoma-intellectual disability syndrome skos:exactMatch UMLS:C1849113 semapv:UnspecifiedMatching MONDO:0010049 spastic paraplegia-glaucoma-intellectual disability syndrome skos:exactMatch mesh:C564809 semapv:UnspecifiedMatching MONDO:0010050 obsolete spastic pseudosclerosis skos:exactMatch OMIM:270900 spastic pseudosclerosis semapv:UnspecifiedMatching MONDO:0010050 obsolete spastic pseudosclerosis skos:exactMatch mesh:C563024 semapv:UnspecifiedMatching MONDO:0010051 spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome skos:exactMatch MEDGEN:376519 semapv:UnspecifiedMatching MONDO:0010051 spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome skos:exactMatch OMIM:270950 spastic quadriplegia, retinitis pigmentosa, and impaired intellectual development semapv:UnspecifiedMatching MONDO:0010051 spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome skos:exactMatch Orphanet:3011 Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0010051 spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome skos:exactMatch UMLS:C1849112 semapv:UnspecifiedMatching MONDO:0010051 spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome skos:exactMatch mesh:C564808 semapv:UnspecifiedMatching MONDO:0010052 spermatogenic failure 4 skos:exactMatch DOID:0070176 spermatogenic failure 4 semapv:UnspecifiedMatching MONDO:0010052 spermatogenic failure 4 skos:exactMatch MEDGEN:68568 semapv:UnspecifiedMatching MONDO:0010052 spermatogenic failure 4 skos:exactMatch OMIM:270960 spermatogenic failure 4 semapv:UnspecifiedMatching MONDO:0010052 spermatogenic failure 4 skos:exactMatch UMLS:C0232981 semapv:UnspecifiedMatching MONDO:0010052 spermatogenic failure 4 skos:exactMatch mesh:C536875 semapv:UnspecifiedMatching MONDO:0010053 hereditary spherocytosis type 3 skos:exactMatch DOID:0110918 hereditary spherocytosis type 3 semapv:UnspecifiedMatching MONDO:0010053 hereditary spherocytosis type 3 skos:exactMatch MEDGEN:394798 semapv:UnspecifiedMatching MONDO:0010053 hereditary spherocytosis type 3 skos:exactMatch OMIM:270970 spherocytosis, type 3 semapv:UnspecifiedMatching MONDO:0010053 hereditary spherocytosis type 3 skos:exactMatch UMLS:C2678338 semapv:UnspecifiedMatching MONDO:0010053 hereditary spherocytosis type 3 skos:exactMatch mesh:C567489 semapv:UnspecifiedMatching MONDO:0010054 spinal muscular atrophy with intellectual disability skos:exactMatch MEDGEN:376518 semapv:UnspecifiedMatching MONDO:0010054 spinal muscular atrophy with intellectual disability skos:exactMatch OMIM:271109 spinal muscular atrophy with impaired intellectual development semapv:UnspecifiedMatching MONDO:0010054 spinal muscular atrophy with intellectual disability skos:exactMatch UMLS:C1849109 semapv:UnspecifiedMatching MONDO:0010054 spinal muscular atrophy with intellectual disability skos:exactMatch mesh:C564807 semapv:UnspecifiedMatching MONDO:0010055 spinal muscular atrophy with microcephaly and mental subnormality skos:exactMatch MEDGEN:1856346 semapv:UnspecifiedMatching MONDO:0010055 spinal muscular atrophy with microcephaly and mental subnormality skos:exactMatch OMIM:271110 spinal muscular atrophy with microcephaly and impaired intellectual development semapv:UnspecifiedMatching MONDO:0010055 spinal muscular atrophy with microcephaly and mental subnormality skos:exactMatch UMLS:C5935682 semapv:UnspecifiedMatching MONDO:0010055 spinal muscular atrophy with microcephaly and mental subnormality skos:exactMatch mesh:C564806 semapv:UnspecifiedMatching MONDO:0010056 spinal muscular atrophy, type IV skos:exactMatch DOID:0050529 adult spinal muscular atrophy semapv:UnspecifiedMatching MONDO:0010056 spinal muscular atrophy, type IV skos:exactMatch MEDGEN:325364 semapv:UnspecifiedMatching MONDO:0010056 spinal muscular atrophy, type IV skos:exactMatch OMIM:271150 spinal muscular atrophy, type 4 semapv:UnspecifiedMatching MONDO:0010056 spinal muscular atrophy, type IV skos:exactMatch Orphanet:83420 Proximal spinal muscular atrophy type 4 semapv:UnspecifiedMatching MONDO:0010056 spinal muscular atrophy, type IV skos:exactMatch SCTID:85505000 semapv:UnspecifiedMatching MONDO:0010056 spinal muscular atrophy, type IV skos:exactMatch UMLS:C1838230 semapv:UnspecifiedMatching MONDO:0010056 spinal muscular atrophy, type IV skos:exactMatch icd11.foundation:443229384 Adult onset spinal muscular atrophy, Type IV semapv:UnspecifiedMatching MONDO:0010056 spinal muscular atrophy, type IV skos:exactMatch mesh:C563948 semapv:UnspecifiedMatching MONDO:0010057 spinal muscular atrophy, Ryukyuan type skos:exactMatch MEDGEN:376517 semapv:UnspecifiedMatching MONDO:0010057 spinal muscular atrophy, Ryukyuan type skos:exactMatch OMIM:271200 spinal muscular atrophy, ryukyuan type semapv:UnspecifiedMatching MONDO:0010057 spinal muscular atrophy, Ryukyuan type skos:exactMatch UMLS:C1849102 semapv:UnspecifiedMatching MONDO:0010057 spinal muscular atrophy, Ryukyuan type skos:exactMatch mesh:C536881 semapv:UnspecifiedMatching MONDO:0010058 scapuloperoneal spinal muscular atrophy, autosomal recessive skos:exactMatch OMIM:271220 spinal muscular atrophy, scapuloperoneal semapv:UnspecifiedMatching MONDO:0010060 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) skos:exactMatch DOID:0080126 mitochondrial DNA depletion syndrome 7 semapv:UnspecifiedMatching MONDO:0010060 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) skos:exactMatch MEDGEN:338613 semapv:UnspecifiedMatching MONDO:0010060 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) skos:exactMatch OMIM:271245 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) semapv:UnspecifiedMatching MONDO:0010060 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) skos:exactMatch Orphanet:1186 Infantile-onset spinocerebellar ataxia semapv:UnspecifiedMatching MONDO:0010060 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) skos:exactMatch SCTID:724227000 semapv:UnspecifiedMatching MONDO:0010060 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) skos:exactMatch UMLS:C1849096 semapv:UnspecifiedMatching MONDO:0010060 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) skos:exactMatch mesh:C535523 semapv:UnspecifiedMatching MONDO:0010062 spinocerebellar ataxia-dysmorphism syndrome skos:exactMatch MEDGEN:336495 semapv:UnspecifiedMatching MONDO:0010062 spinocerebellar ataxia-dysmorphism syndrome skos:exactMatch OMIM:271270 spinocerebellar ataxia with dysmorphism semapv:UnspecifiedMatching MONDO:0010062 spinocerebellar ataxia-dysmorphism syndrome skos:exactMatch Orphanet:1185 Spinocerebellar ataxia-dysmorphism syndrome semapv:UnspecifiedMatching MONDO:0010062 spinocerebellar ataxia-dysmorphism syndrome skos:exactMatch UMLS:C1849088 semapv:UnspecifiedMatching MONDO:0010062 spinocerebellar ataxia-dysmorphism syndrome skos:exactMatch mesh:C564802 semapv:UnspecifiedMatching MONDO:0010063 corneal-cerebellar syndrome skos:exactMatch MEDGEN:341379 semapv:UnspecifiedMatching MONDO:0010063 corneal-cerebellar syndrome skos:exactMatch OMIM:271310 spinocerebellar degeneration and corneal dystrophy semapv:UnspecifiedMatching MONDO:0010063 corneal-cerebellar syndrome skos:exactMatch Orphanet:3177 Spinocerebellar degeneration-corneal dystrophy syndrome semapv:UnspecifiedMatching MONDO:0010063 corneal-cerebellar syndrome skos:exactMatch SCTID:720750004 semapv:UnspecifiedMatching MONDO:0010063 corneal-cerebellar syndrome skos:exactMatch UMLS:C1849087 semapv:UnspecifiedMatching MONDO:0010063 corneal-cerebellar syndrome skos:exactMatch icd11.foundation:577494924 Corneal-cerebellar syndrome semapv:UnspecifiedMatching MONDO:0010063 corneal-cerebellar syndrome skos:exactMatch mesh:C535472 semapv:UnspecifiedMatching MONDO:0010064 spastic ataxia-corneal dystrophy syndrome skos:exactMatch MEDGEN:336493 semapv:UnspecifiedMatching MONDO:0010064 spastic ataxia-corneal dystrophy syndrome skos:exactMatch OMIM:271320 spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia semapv:UnspecifiedMatching MONDO:0010064 spastic ataxia-corneal dystrophy syndrome skos:exactMatch Orphanet:2572 Spastic ataxia-corneal dystrophy syndrome semapv:UnspecifiedMatching MONDO:0010064 spastic ataxia-corneal dystrophy syndrome skos:exactMatch SCTID:715465001 semapv:UnspecifiedMatching MONDO:0010064 spastic ataxia-corneal dystrophy syndrome skos:exactMatch UMLS:C1849085 semapv:UnspecifiedMatching MONDO:0010064 spastic ataxia-corneal dystrophy syndrome skos:exactMatch mesh:C536989 semapv:UnspecifiedMatching MONDO:0010065 spinocerebellar degeneration with slow eye movements skos:exactMatch OMIM:271322 spinocerebellar degeneration with slow eye movements semapv:UnspecifiedMatching MONDO:0010066 familial isolated congenital asplenia skos:exactMatch MEDGEN:151935 semapv:UnspecifiedMatching MONDO:0010066 familial isolated congenital asplenia skos:exactMatch OMIM:271400 asplenia, isolated congenital semapv:UnspecifiedMatching MONDO:0010066 familial isolated congenital asplenia skos:exactMatch Orphanet:101351 Familial isolated congenital asplenia semapv:UnspecifiedMatching MONDO:0010066 familial isolated congenital asplenia skos:exactMatch SCTID:726708009 semapv:UnspecifiedMatching MONDO:0010066 familial isolated congenital asplenia skos:exactMatch UMLS:C0685889 semapv:UnspecifiedMatching MONDO:0010066 familial isolated congenital asplenia skos:exactMatch mesh:C563028 semapv:UnspecifiedMatching MONDO:0010067 splenoportal vascular anomalies skos:exactMatch MEDGEN:137945 semapv:UnspecifiedMatching MONDO:0010067 splenoportal vascular anomalies skos:exactMatch OMIM:271500 splenoportal vascular anomalies semapv:UnspecifiedMatching MONDO:0010067 splenoportal vascular anomalies skos:exactMatch SCTID:234131004 semapv:UnspecifiedMatching MONDO:0010067 splenoportal vascular anomalies skos:exactMatch UMLS:C0340826 semapv:UnspecifiedMatching MONDO:0010067 splenoportal vascular anomalies skos:exactMatch mesh:C562761 semapv:UnspecifiedMatching MONDO:0010068 spondyloepimetaphyseal dysplasia, sponastrime type skos:exactMatch DOID:5684 spondyloepimetaphyseal dysplasia, Sponastrime type semapv:UnspecifiedMatching MONDO:0010068 spondyloepimetaphyseal dysplasia, sponastrime type skos:exactMatch MEDGEN:266247 semapv:UnspecifiedMatching MONDO:0010068 spondyloepimetaphyseal dysplasia, sponastrime type skos:exactMatch NCIT:C129031 Spondyloepimetaphyseal Dysplasia, Sponastrime Type semapv:UnspecifiedMatching MONDO:0010068 spondyloepimetaphyseal dysplasia, sponastrime type skos:exactMatch OMIM:271510 spondyloepimetaphyseal dysplasia, sponastrime type semapv:UnspecifiedMatching MONDO:0010068 spondyloepimetaphyseal dysplasia, sponastrime type skos:exactMatch Orphanet:93357 SPONASTRIME dysplasia semapv:UnspecifiedMatching MONDO:0010068 spondyloepimetaphyseal dysplasia, sponastrime type skos:exactMatch SCTID:389161008 semapv:UnspecifiedMatching MONDO:0010068 spondyloepimetaphyseal dysplasia, sponastrime type skos:exactMatch UMLS:C1300260 semapv:UnspecifiedMatching MONDO:0010068 spondyloepimetaphyseal dysplasia, sponastrime type skos:exactMatch mesh:C535786 semapv:UnspecifiedMatching MONDO:0010069 spondylocostal dysostosis-anal and genitourinary malformations syndrome skos:exactMatch MEDGEN:341373 semapv:UnspecifiedMatching MONDO:0010069 spondylocostal dysostosis-anal and genitourinary malformations syndrome skos:exactMatch OMIM:271520 spondylocostal dysostosis with anal atresia and urogenital anomalies semapv:UnspecifiedMatching MONDO:0010069 spondylocostal dysostosis-anal and genitourinary malformations syndrome skos:exactMatch UMLS:C1849069 semapv:UnspecifiedMatching MONDO:0010069 spondylocostal dysostosis-anal and genitourinary malformations syndrome skos:exactMatch mesh:C564799 semapv:UnspecifiedMatching MONDO:0010070 brachyolmia type 1, Hobaek type skos:exactMatch MEDGEN:338605 semapv:UnspecifiedMatching MONDO:0010070 brachyolmia type 1, Hobaek type skos:exactMatch OMIM:271530 brachyolmia type 1, hobaek type semapv:UnspecifiedMatching MONDO:0010070 brachyolmia type 1, Hobaek type skos:exactMatch UMLS:C1849055 semapv:UnspecifiedMatching MONDO:0010070 brachyolmia type 1, Hobaek type skos:exactMatch icd11.foundation:1213374086 Brachyolmia type 1, Hobaek type semapv:UnspecifiedMatching MONDO:0010070 brachyolmia type 1, Hobaek type skos:exactMatch mesh:C537099 semapv:UnspecifiedMatching MONDO:0010072 spondyloepiphyseal dysplasia tarda, autosomal recessive skos:exactMatch DOID:0112293 autosomal recessive spondyloepiphyseal dysplasia tarda semapv:UnspecifiedMatching MONDO:0010072 spondyloepiphyseal dysplasia tarda, autosomal recessive skos:exactMatch MEDGEN:338604 semapv:UnspecifiedMatching MONDO:0010072 spondyloepiphyseal dysplasia tarda, autosomal recessive skos:exactMatch OMIM:271600 spondyloepiphyseal dysplasia tarda, autosomal recessive semapv:UnspecifiedMatching MONDO:0010072 spondyloepiphyseal dysplasia tarda, autosomal recessive skos:exactMatch UMLS:C1849054 semapv:UnspecifiedMatching MONDO:0010072 spondyloepiphyseal dysplasia tarda, autosomal recessive skos:exactMatch mesh:C564797 semapv:UnspecifiedMatching MONDO:0010073 spondyloepiphyseal dysplasia tarda, Kohn type skos:exactMatch DOID:0112292 spondyloepiphyseal dysplasia tarda with impaired intellectual development semapv:UnspecifiedMatching MONDO:0010073 spondyloepiphyseal dysplasia tarda, Kohn type skos:exactMatch MEDGEN:338603 semapv:UnspecifiedMatching MONDO:0010073 spondyloepiphyseal dysplasia tarda, Kohn type skos:exactMatch OMIM:271620 spondyloepiphyseal dysplasia tarda with impaired intellectual development semapv:UnspecifiedMatching MONDO:0010073 spondyloepiphyseal dysplasia tarda, Kohn type skos:exactMatch Orphanet:163665 Spondyloepiphyseal dysplasia tarda, Kohn type semapv:UnspecifiedMatching MONDO:0010073 spondyloepiphyseal dysplasia tarda, Kohn type skos:exactMatch SCTID:719202006 semapv:UnspecifiedMatching MONDO:0010073 spondyloepiphyseal dysplasia tarda, Kohn type skos:exactMatch UMLS:C1849053 semapv:UnspecifiedMatching MONDO:0010073 spondyloepiphyseal dysplasia tarda, Kohn type skos:exactMatch icd11.foundation:758715188 Spondyloepiphyseal dysplasia tarda, Kohn type semapv:UnspecifiedMatching MONDO:0010073 spondyloepiphyseal dysplasia tarda, Kohn type skos:exactMatch mesh:C564796 semapv:UnspecifiedMatching MONDO:0010074 brachyolmia type 1, toledo type skos:exactMatch MEDGEN:376504 semapv:UnspecifiedMatching MONDO:0010074 brachyolmia type 1, toledo type skos:exactMatch OMIM:271630 brachyolmia type 1, toledo type semapv:UnspecifiedMatching MONDO:0010074 brachyolmia type 1, toledo type skos:exactMatch UMLS:C1849048 semapv:UnspecifiedMatching MONDO:0010074 brachyolmia type 1, toledo type skos:exactMatch icd11.foundation:637954533 Brachyolmia type 1, Toledo type semapv:UnspecifiedMatching MONDO:0010074 brachyolmia type 1, toledo type skos:exactMatch mesh:C535787 semapv:UnspecifiedMatching MONDO:0010075 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures skos:exactMatch DOID:0112198 spondyloepimetaphyseal dysplasia with joint laxity type 1 semapv:UnspecifiedMatching MONDO:0010075 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures skos:exactMatch MEDGEN:865814 semapv:UnspecifiedMatching MONDO:0010075 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures skos:exactMatch OMIM:271640 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures semapv:UnspecifiedMatching MONDO:0010075 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures skos:exactMatch Orphanet:642099 Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type semapv:UnspecifiedMatching MONDO:0010075 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures skos:exactMatch UMLS:C4017377 semapv:UnspecifiedMatching MONDO:0010076 spondyloepimetaphyseal dysplasia, Irapa type skos:exactMatch MEDGEN:98476 semapv:UnspecifiedMatching MONDO:0010076 spondyloepimetaphyseal dysplasia, Irapa type skos:exactMatch OMIM:271650 spondyloepimetaphyseal dysplasia, irapa type semapv:UnspecifiedMatching MONDO:0010076 spondyloepimetaphyseal dysplasia, Irapa type skos:exactMatch Orphanet:93351 Spondyloepimetaphyseal dysplasia, Irapa type semapv:UnspecifiedMatching MONDO:0010076 spondyloepimetaphyseal dysplasia, Irapa type skos:exactMatch SCTID:717330004 semapv:UnspecifiedMatching MONDO:0010076 spondyloepimetaphyseal dysplasia, Irapa type skos:exactMatch UMLS:C0432213 semapv:UnspecifiedMatching MONDO:0010076 spondyloepimetaphyseal dysplasia, Irapa type skos:exactMatch icd11.foundation:1355637988 Spondyloepimetaphyseal dysplasia, Irapa type semapv:UnspecifiedMatching MONDO:0010076 spondyloepimetaphyseal dysplasia, Irapa type skos:exactMatch mesh:C562958 semapv:UnspecifiedMatching MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome skos:exactMatch DOID:0112196 spondylometaepiphyseal dysplasia, short limb-hand type semapv:UnspecifiedMatching MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome skos:exactMatch MEDGEN:338595 semapv:UnspecifiedMatching MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome skos:exactMatch OMIM:271665 spondylometaepiphyseal dysplasia, short limb-hand type semapv:UnspecifiedMatching MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome skos:exactMatch Orphanet:93358 Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome semapv:UnspecifiedMatching MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome skos:exactMatch UMLS:C1849011 semapv:UnspecifiedMatching MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome skos:exactMatch mesh:C564794 semapv:UnspecifiedMatching MONDO:0010078 spondyloperipheral dysplasia skos:exactMatch DOID:0112195 spondyloperipheral dysplasia semapv:UnspecifiedMatching MONDO:0010078 spondyloperipheral dysplasia skos:exactMatch MEDGEN:163223 semapv:UnspecifiedMatching MONDO:0010078 spondyloperipheral dysplasia skos:exactMatch NCIT:C135088 Spondyloperipheral Dysplasia semapv:UnspecifiedMatching MONDO:0010078 spondyloperipheral dysplasia skos:exactMatch OMIM:271700 spondyloperipheral dysplasia semapv:UnspecifiedMatching MONDO:0010078 spondyloperipheral dysplasia skos:exactMatch Orphanet:1856 Spondyloperipheral dysplasia-short ulna syndrome semapv:UnspecifiedMatching MONDO:0010078 spondyloperipheral dysplasia skos:exactMatch SCTID:702339001 semapv:UnspecifiedMatching MONDO:0010078 spondyloperipheral dysplasia skos:exactMatch UMLS:C0796173 semapv:UnspecifiedMatching MONDO:0010078 spondyloperipheral dysplasia skos:exactMatch mesh:C535799 semapv:UnspecifiedMatching MONDO:0010079 Canavan disease skos:exactMatch DOID:3613 Canavan disease semapv:UnspecifiedMatching MONDO:0010079 Canavan disease skos:exactMatch MEDGEN:61565 semapv:UnspecifiedMatching MONDO:0010079 Canavan disease skos:exactMatch NCIT:C84611 Canavan Disease semapv:UnspecifiedMatching MONDO:0010079 Canavan disease skos:exactMatch OMIM:271900 canavan disease semapv:UnspecifiedMatching MONDO:0010079 Canavan disease skos:exactMatch Orphanet:141 Canavan disease semapv:UnspecifiedMatching MONDO:0010079 Canavan disease skos:exactMatch SCTID:80544005 semapv:UnspecifiedMatching MONDO:0010079 Canavan disease skos:exactMatch UMLS:C0206307 semapv:UnspecifiedMatching MONDO:0010079 Canavan disease skos:exactMatch icd11.foundation:1576870846 Canavan disease semapv:UnspecifiedMatching MONDO:0010079 Canavan disease skos:exactMatch mesh:D017825 semapv:UnspecifiedMatching MONDO:0010080 familial infantile bilateral striatal necrosis skos:exactMatch MEDGEN:1672478 semapv:UnspecifiedMatching MONDO:0010080 familial infantile bilateral striatal necrosis skos:exactMatch OMIM:271930 striatonigral degeneration, infantile semapv:UnspecifiedMatching MONDO:0010080 familial infantile bilateral striatal necrosis skos:exactMatch Orphanet:225154 Familial infantile bilateral striatal necrosis semapv:UnspecifiedMatching MONDO:0010080 familial infantile bilateral striatal necrosis skos:exactMatch UMLS:C4087174 semapv:UnspecifiedMatching MONDO:0010080 familial infantile bilateral striatal necrosis skos:exactMatch icd11.foundation:1873983370 Familial infantile bilateral striatal necrosis semapv:UnspecifiedMatching MONDO:0010081 subaortic stenosis, membranous skos:exactMatch MEDGEN:336468 semapv:UnspecifiedMatching MONDO:0010081 subaortic stenosis, membranous skos:exactMatch OMIM:271950 subaortic stenosis, membranous semapv:UnspecifiedMatching MONDO:0010081 subaortic stenosis, membranous skos:exactMatch UMLS:C1848979 semapv:UnspecifiedMatching MONDO:0010081 subaortic stenosis, membranous skos:exactMatch mesh:C564793 semapv:UnspecifiedMatching MONDO:0010082 subaortic stenosis-short stature syndrome skos:exactMatch MEDGEN:167085 semapv:UnspecifiedMatching MONDO:0010082 subaortic stenosis-short stature syndrome skos:exactMatch OMIM:271960 subaortic stenosis--short stature syndrome semapv:UnspecifiedMatching MONDO:0010082 subaortic stenosis-short stature syndrome skos:exactMatch Orphanet:3191 Subaortic stenosis-short stature syndrome semapv:UnspecifiedMatching MONDO:0010082 subaortic stenosis-short stature syndrome skos:exactMatch UMLS:C0795947 semapv:UnspecifiedMatching MONDO:0010082 subaortic stenosis-short stature syndrome skos:exactMatch mesh:C537749 semapv:UnspecifiedMatching MONDO:0010083 succinic semialdehyde dehydrogenase deficiency skos:exactMatch DOID:0060175 succinic semialdehyde dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0010083 succinic semialdehyde dehydrogenase deficiency skos:exactMatch MEDGEN:124340 semapv:UnspecifiedMatching MONDO:0010083 succinic semialdehyde dehydrogenase deficiency skos:exactMatch OMIM:271980 succinic semialdehyde dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0010083 succinic semialdehyde dehydrogenase deficiency skos:exactMatch Orphanet:22 Succinic semialdehyde dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0010083 succinic semialdehyde dehydrogenase deficiency skos:exactMatch SCTID:49748000 semapv:UnspecifiedMatching MONDO:0010083 succinic semialdehyde dehydrogenase deficiency skos:exactMatch UMLS:C0268631 semapv:UnspecifiedMatching MONDO:0010083 succinic semialdehyde dehydrogenase deficiency skos:exactMatch mesh:C535803 semapv:UnspecifiedMatching MONDO:0010084 sucrosuria, hiatus hernia and intellectual disability skos:exactMatch MEDGEN:338583 semapv:UnspecifiedMatching MONDO:0010084 sucrosuria, hiatus hernia and intellectual disability skos:exactMatch OMIM:272000 sucrosuria, hiatus hernia, and impaired intellectual development semapv:UnspecifiedMatching MONDO:0010084 sucrosuria, hiatus hernia and intellectual disability skos:exactMatch UMLS:C1848963 semapv:UnspecifiedMatching MONDO:0010084 sucrosuria, hiatus hernia and intellectual disability skos:exactMatch mesh:C564792 semapv:UnspecifiedMatching MONDO:0010085 Schilder disease skos:exactMatch ICD10CM:G37.0 Diffuse sclerosis of central nervous system semapv:UnspecifiedMatching MONDO:0010085 Schilder disease skos:exactMatch MEDGEN:3324 semapv:UnspecifiedMatching MONDO:0010085 Schilder disease skos:exactMatch OMIM:272100 sudanophilic cerebral sclerosis semapv:UnspecifiedMatching MONDO:0010085 Schilder disease skos:exactMatch Orphanet:59298 Schilder disease semapv:UnspecifiedMatching MONDO:0010085 Schilder disease skos:exactMatch SCTID:49692006 semapv:UnspecifiedMatching MONDO:0010085 Schilder disease skos:exactMatch UMLS:C0007795 semapv:UnspecifiedMatching MONDO:0010086 obsolete sudden infant death syndrome skos:exactMatch DOID:9007 sudden infant death syndrome semapv:UnspecifiedMatching MONDO:0010086 obsolete sudden infant death syndrome skos:exactMatch ICD10WHO:R95 Sudden infant death syndrome semapv:UnspecifiedMatching MONDO:0010086 obsolete sudden infant death syndrome skos:exactMatch NCIT:C85173 Sudden Infant Death Syndrome semapv:UnspecifiedMatching MONDO:0010086 obsolete sudden infant death syndrome skos:exactMatch OMIM:272120 sudden infant death syndrome semapv:UnspecifiedMatching MONDO:0010086 obsolete sudden infant death syndrome skos:exactMatch SCTID:51178009 semapv:UnspecifiedMatching MONDO:0010086 obsolete sudden infant death syndrome skos:exactMatch mesh:D013398 semapv:UnspecifiedMatching MONDO:0010087 Sugarman brachydactyly skos:exactMatch DOID:0110979 Sugarman brachydactyly semapv:UnspecifiedMatching MONDO:0010087 Sugarman brachydactyly skos:exactMatch MEDGEN:1777636 semapv:UnspecifiedMatching MONDO:0010087 Sugarman brachydactyly skos:exactMatch OMIM:272150 sugarman brachydactyly semapv:UnspecifiedMatching MONDO:0010087 Sugarman brachydactyly skos:exactMatch Orphanet:498602 Sugarman brachydactyly semapv:UnspecifiedMatching MONDO:0010087 Sugarman brachydactyly skos:exactMatch UMLS:C5399870 semapv:UnspecifiedMatching MONDO:0010088 mucosulfatidosis skos:exactMatch DOID:0050441 mucosulfatidosis semapv:UnspecifiedMatching MONDO:0010088 mucosulfatidosis skos:exactMatch MEDGEN:75664 semapv:UnspecifiedMatching MONDO:0010088 mucosulfatidosis skos:exactMatch NCIT:C84908 Multiple Sulfatase Deficiency Disease semapv:UnspecifiedMatching MONDO:0010088 mucosulfatidosis skos:exactMatch OMIM:272200 multiple sulfatase deficiency semapv:UnspecifiedMatching MONDO:0010088 mucosulfatidosis skos:exactMatch Orphanet:585 Multiple sulfatase deficiency semapv:UnspecifiedMatching MONDO:0010088 mucosulfatidosis skos:exactMatch SCTID:54898003 semapv:UnspecifiedMatching MONDO:0010088 mucosulfatidosis skos:exactMatch UMLS:C0268263 semapv:UnspecifiedMatching MONDO:0010088 mucosulfatidosis skos:exactMatch icd11.foundation:848083807 Mucosulfatidosis semapv:UnspecifiedMatching MONDO:0010088 mucosulfatidosis skos:exactMatch mesh:D052517 semapv:UnspecifiedMatching MONDO:0010089 isolated sulfite oxidase deficiency skos:exactMatch DOID:0111270 isolated sulfite oxidase deficiency semapv:UnspecifiedMatching MONDO:0010089 isolated sulfite oxidase deficiency skos:exactMatch MEDGEN:78695 semapv:UnspecifiedMatching MONDO:0010089 isolated sulfite oxidase deficiency skos:exactMatch OMIM:272300 sulfite oxidase deficiency, isolated semapv:UnspecifiedMatching MONDO:0010089 isolated sulfite oxidase deficiency skos:exactMatch Orphanet:99731 Isolated sulfite oxidase deficiency semapv:UnspecifiedMatching MONDO:0010089 isolated sulfite oxidase deficiency skos:exactMatch SCTID:367368009 semapv:UnspecifiedMatching MONDO:0010089 isolated sulfite oxidase deficiency skos:exactMatch UMLS:C0268624 semapv:UnspecifiedMatching MONDO:0010089 isolated sulfite oxidase deficiency skos:exactMatch icd11.foundation:963607692 Isolated sulfite oxidase deficiency semapv:UnspecifiedMatching MONDO:0010089 isolated sulfite oxidase deficiency skos:exactMatch mesh:C538141 semapv:UnspecifiedMatching MONDO:0010090 Summitt syndrome skos:exactMatch MEDGEN:369198 semapv:UnspecifiedMatching MONDO:0010090 Summitt syndrome skos:exactMatch OMIM:272350 summitt syndrome semapv:UnspecifiedMatching MONDO:0010090 Summitt syndrome skos:exactMatch SCTID:733606001 semapv:UnspecifiedMatching MONDO:0010090 Summitt syndrome skos:exactMatch UMLS:C1802405 semapv:UnspecifiedMatching MONDO:0010090 Summitt syndrome skos:exactMatch mesh:C538142 semapv:UnspecifiedMatching MONDO:0010091 Cold-induced sweating syndrome 1 skos:exactMatch DOID:0080329 cold-induced sweating syndrome 1 semapv:UnspecifiedMatching MONDO:0010091 Cold-induced sweating syndrome 1 skos:exactMatch MEDGEN:338577 semapv:UnspecifiedMatching MONDO:0010091 Cold-induced sweating syndrome 1 skos:exactMatch OMIM:272430 crisponi/cold-induced sweating syndrome 1 semapv:UnspecifiedMatching MONDO:0010091 Cold-induced sweating syndrome 1 skos:exactMatch Orphanet:1545 Crisponi syndrome semapv:UnspecifiedMatching MONDO:0010091 Cold-induced sweating syndrome 1 skos:exactMatch SCTID:725097006 semapv:UnspecifiedMatching MONDO:0010091 Cold-induced sweating syndrome 1 skos:exactMatch UMLS:C1848947 semapv:UnspecifiedMatching MONDO:0010091 Cold-induced sweating syndrome 1 skos:exactMatch mesh:C536214 semapv:UnspecifiedMatching MONDO:0010092 Filippi syndrome skos:exactMatch DOID:0112194 Filippi syndrome semapv:UnspecifiedMatching MONDO:0010092 Filippi syndrome skos:exactMatch MEDGEN:163197 semapv:UnspecifiedMatching MONDO:0010092 Filippi syndrome skos:exactMatch OMIM:272440 filippi syndrome semapv:UnspecifiedMatching MONDO:0010092 Filippi syndrome skos:exactMatch Orphanet:3255 Filippi syndrome semapv:UnspecifiedMatching MONDO:0010092 Filippi syndrome skos:exactMatch SCTID:720954000 semapv:UnspecifiedMatching MONDO:0010092 Filippi syndrome skos:exactMatch UMLS:C0795940 semapv:UnspecifiedMatching MONDO:0010092 Filippi syndrome skos:exactMatch icd11.foundation:1989471300 Filippi syndrome semapv:UnspecifiedMatching MONDO:0010092 Filippi syndrome skos:exactMatch mesh:C538152 semapv:UnspecifiedMatching MONDO:0010093 syndesmodysplasic dwarfism skos:exactMatch MEDGEN:419461 semapv:UnspecifiedMatching MONDO:0010093 syndesmodysplasic dwarfism skos:exactMatch OMIM:272450 syndesmodysplasic dwarfism semapv:UnspecifiedMatching MONDO:0010093 syndesmodysplasic dwarfism skos:exactMatch UMLS:C2931647 semapv:UnspecifiedMatching MONDO:0010093 syndesmodysplasic dwarfism skos:exactMatch mesh:C537869 semapv:UnspecifiedMatching MONDO:0010094 spondylocarpotarsal synostosis syndrome skos:exactMatch DOID:0090116 spondylocarpotarsal synostosis syndrome semapv:UnspecifiedMatching MONDO:0010094 spondylocarpotarsal synostosis syndrome skos:exactMatch MEDGEN:341339 semapv:UnspecifiedMatching MONDO:0010094 spondylocarpotarsal synostosis syndrome skos:exactMatch OMIM:272460 spondylocarpotarsal synostosis syndrome semapv:UnspecifiedMatching MONDO:0010094 spondylocarpotarsal synostosis syndrome skos:exactMatch Orphanet:3275 Spondylocarpotarsal synostosis semapv:UnspecifiedMatching MONDO:0010094 spondylocarpotarsal synostosis syndrome skos:exactMatch SCTID:702351004 semapv:UnspecifiedMatching MONDO:0010094 spondylocarpotarsal synostosis syndrome skos:exactMatch UMLS:C1848934 semapv:UnspecifiedMatching MONDO:0010094 spondylocarpotarsal synostosis syndrome skos:exactMatch mesh:C535780 semapv:UnspecifiedMatching MONDO:0010095 ataxia-tapetoretinal degeneration syndrome skos:exactMatch MEDGEN:336461 semapv:UnspecifiedMatching MONDO:0010095 ataxia-tapetoretinal degeneration syndrome skos:exactMatch OMIM:272600 tapetoretinal degeneration with ataxia semapv:UnspecifiedMatching MONDO:0010095 ataxia-tapetoretinal degeneration syndrome skos:exactMatch Orphanet:1178 Ataxia-tapetoretinal degeneration syndrome semapv:UnspecifiedMatching MONDO:0010095 ataxia-tapetoretinal degeneration syndrome skos:exactMatch UMLS:C1848932 semapv:UnspecifiedMatching MONDO:0010095 ataxia-tapetoretinal degeneration syndrome skos:exactMatch mesh:C564788 semapv:UnspecifiedMatching MONDO:0010096 tardive dyskinesia skos:exactMatch MEDGEN:151939 semapv:UnspecifiedMatching MONDO:0010096 tardive dyskinesia skos:exactMatch OMIM:272620 tardive dyskinesia semapv:UnspecifiedMatching MONDO:0010096 tardive dyskinesia skos:exactMatch SCTID:102449007 semapv:UnspecifiedMatching MONDO:0010096 tardive dyskinesia skos:exactMatch UMLS:C0686347 semapv:UnspecifiedMatching MONDO:0010096 tardive dyskinesia skos:exactMatch mesh:D000071057 semapv:UnspecifiedMatching MONDO:0010097 Tatsumi factor deficiency skos:exactMatch MEDGEN:336460 semapv:UnspecifiedMatching MONDO:0010097 Tatsumi factor deficiency skos:exactMatch OMIM:272650 tatsumi factor deficiency semapv:UnspecifiedMatching MONDO:0010097 Tatsumi factor deficiency skos:exactMatch UMLS:C1848931 semapv:UnspecifiedMatching MONDO:0010097 Tatsumi factor deficiency skos:exactMatch mesh:C564787 semapv:UnspecifiedMatching MONDO:0010098 taurodontism skos:exactMatch MEDGEN:75596 semapv:UnspecifiedMatching MONDO:0010098 taurodontism skos:exactMatch OMIM:272700 taurodontism semapv:UnspecifiedMatching MONDO:0010098 taurodontism skos:exactMatch SCTID:51744007 semapv:UnspecifiedMatching MONDO:0010098 taurodontism skos:exactMatch UMLS:C0266039 semapv:UnspecifiedMatching MONDO:0010098 taurodontism skos:exactMatch icd11.foundation:356382747 Taurodontism semapv:UnspecifiedMatching MONDO:0010098 taurodontism skos:exactMatch mesh:C536946 semapv:UnspecifiedMatching MONDO:0010099 Tay-Sachs disease AB variant skos:exactMatch DOID:4795 GM2 gangliosidosis, AB variant semapv:UnspecifiedMatching MONDO:0010099 Tay-Sachs disease AB variant skos:exactMatch MEDGEN:78657 semapv:UnspecifiedMatching MONDO:0010099 Tay-Sachs disease AB variant skos:exactMatch NCIT:C133084 GM2-Gangliosidosis, AB Variant semapv:UnspecifiedMatching MONDO:0010099 Tay-Sachs disease AB variant skos:exactMatch OMIM:272750 gm2-gangliosidosis, ab variant semapv:UnspecifiedMatching MONDO:0010099 Tay-Sachs disease AB variant skos:exactMatch Orphanet:309246 GM2 gangliosidosis, AB variant semapv:UnspecifiedMatching MONDO:0010099 Tay-Sachs disease AB variant skos:exactMatch SCTID:71253000 semapv:UnspecifiedMatching MONDO:0010099 Tay-Sachs disease AB variant skos:exactMatch UMLS:C0268275 semapv:UnspecifiedMatching MONDO:0010099 Tay-Sachs disease AB variant skos:exactMatch mesh:D049290 semapv:UnspecifiedMatching MONDO:0010100 Tay-Sachs disease skos:exactMatch DOID:3320 Tay-Sachs disease semapv:UnspecifiedMatching MONDO:0010100 Tay-Sachs disease skos:exactMatch ICD10CM:E75.02 Tay-Sachs disease semapv:UnspecifiedMatching MONDO:0010100 Tay-Sachs disease skos:exactMatch MEDGEN:11713 semapv:UnspecifiedMatching MONDO:0010100 Tay-Sachs disease skos:exactMatch NCIT:C85184 Tay-Sachs Disease semapv:UnspecifiedMatching MONDO:0010100 Tay-Sachs disease skos:exactMatch OMIM:272800 tay-sachs disease semapv:UnspecifiedMatching MONDO:0010100 Tay-Sachs disease skos:exactMatch Orphanet:845 Tay-Sachs disease semapv:UnspecifiedMatching MONDO:0010100 Tay-Sachs disease skos:exactMatch SCTID:111385000 semapv:UnspecifiedMatching MONDO:0010100 Tay-Sachs disease skos:exactMatch SCTID:49562005 semapv:UnspecifiedMatching MONDO:0010100 Tay-Sachs disease skos:exactMatch UMLS:C0039373 semapv:UnspecifiedMatching MONDO:0010100 Tay-Sachs disease skos:exactMatch icd11.foundation:215008783 Tay-Sachs disease semapv:UnspecifiedMatching MONDO:0010100 Tay-Sachs disease skos:exactMatch mesh:D013661 semapv:UnspecifiedMatching MONDO:0010101 Teebi-Shaltout syndrome skos:exactMatch MEDGEN:376472 semapv:UnspecifiedMatching MONDO:0010101 Teebi-Shaltout syndrome skos:exactMatch OMIM:272950 teebi-shaltout syndrome semapv:UnspecifiedMatching MONDO:0010101 Teebi-Shaltout syndrome skos:exactMatch Orphanet:3291 Teebi-Shaltout syndrome semapv:UnspecifiedMatching MONDO:0010101 Teebi-Shaltout syndrome skos:exactMatch UMLS:C1848912 semapv:UnspecifiedMatching MONDO:0010101 Teebi-Shaltout syndrome skos:exactMatch mesh:C536950 semapv:UnspecifiedMatching MONDO:0010102 taurodontia-absent teeth-sparse hair syndrome skos:exactMatch MEDGEN:338570 semapv:UnspecifiedMatching MONDO:0010102 taurodontia-absent teeth-sparse hair syndrome skos:exactMatch OMIM:272980 teeth, congenital absence of, with taurodontia and sparse hair semapv:UnspecifiedMatching MONDO:0010102 taurodontia-absent teeth-sparse hair syndrome skos:exactMatch UMLS:C1848909 semapv:UnspecifiedMatching MONDO:0010102 taurodontia-absent teeth-sparse hair syndrome skos:exactMatch mesh:C536945 semapv:UnspecifiedMatching MONDO:0010103 teeth, fused skos:exactMatch MEDGEN:4808 semapv:UnspecifiedMatching MONDO:0010103 teeth, fused skos:exactMatch OMIM:273000 teeth, fused semapv:UnspecifiedMatching MONDO:0010103 teeth, fused skos:exactMatch SCTID:1744008 semapv:UnspecifiedMatching MONDO:0010103 teeth, fused skos:exactMatch UMLS:C0016873 semapv:UnspecifiedMatching MONDO:0010103 teeth, fused skos:exactMatch mesh:D005671 semapv:UnspecifiedMatching MONDO:0010104 non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome skos:exactMatch MEDGEN:341331 semapv:UnspecifiedMatching MONDO:0010104 non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome skos:exactMatch OMIM:273050 teeth, noneruption of, with maxillary hypoplasia and genu valgum semapv:UnspecifiedMatching MONDO:0010104 non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome skos:exactMatch Orphanet:2972 Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome semapv:UnspecifiedMatching MONDO:0010104 non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome skos:exactMatch SCTID:723442008 semapv:UnspecifiedMatching MONDO:0010104 non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome skos:exactMatch UMLS:C1848903 semapv:UnspecifiedMatching MONDO:0010105 teratoma, pineal skos:exactMatch MEDGEN:336449 semapv:UnspecifiedMatching MONDO:0010105 teratoma, pineal skos:exactMatch OMIM:273120 teratoma, pineal semapv:UnspecifiedMatching MONDO:0010105 teratoma, pineal skos:exactMatch UMLS:C1848902 semapv:UnspecifiedMatching MONDO:0010105 teratoma, pineal skos:exactMatch mesh:C537401 semapv:UnspecifiedMatching MONDO:0010106 testes, rudimentary skos:exactMatch MEDGEN:336448 semapv:UnspecifiedMatching MONDO:0010106 testes, rudimentary skos:exactMatch OMIM:273150 testes, rudimentary semapv:UnspecifiedMatching MONDO:0010106 testes, rudimentary skos:exactMatch UMLS:C1848901 semapv:UnspecifiedMatching MONDO:0010108 testicular germ cell tumor skos:exactMatch DOID:5557 testicular germ cell cancer semapv:UnspecifiedMatching MONDO:0010108 testicular germ cell tumor skos:exactMatch EFO:1000566 semapv:UnspecifiedMatching MONDO:0010108 testicular germ cell tumor skos:exactMatch MEDGEN:277809 semapv:UnspecifiedMatching MONDO:0010108 testicular germ cell tumor skos:exactMatch NCIT:C8591 Testicular Germ Cell Tumor semapv:UnspecifiedMatching MONDO:0010108 testicular germ cell tumor skos:exactMatch OMIM:273300 testicular germ cell tumor semapv:UnspecifiedMatching MONDO:0010108 testicular germ cell tumor skos:exactMatch Orphanet:363504 Germ cell tumor of testis semapv:UnspecifiedMatching MONDO:0010108 testicular germ cell tumor skos:exactMatch SCTID:713577007 semapv:UnspecifiedMatching MONDO:0010108 testicular germ cell tumor skos:exactMatch UMLS:C1336708 semapv:UnspecifiedMatching MONDO:0010108 testicular germ cell tumor skos:exactMatch mesh:C563236 semapv:UnspecifiedMatching MONDO:0010109 tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities skos:exactMatch MEDGEN:444003 semapv:UnspecifiedMatching MONDO:0010109 tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities skos:exactMatch OMIM:273390 tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities semapv:UnspecifiedMatching MONDO:0010109 tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities skos:exactMatch UMLS:C2931214 semapv:UnspecifiedMatching MONDO:0010109 tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities skos:exactMatch mesh:C536496 semapv:UnspecifiedMatching MONDO:0010110 tetraamelia-multiple malformations syndrome skos:exactMatch DOID:0112191 tetraamelia syndrome semapv:UnspecifiedMatching MONDO:0010110 tetraamelia-multiple malformations syndrome skos:exactMatch MEDGEN:419746 semapv:UnspecifiedMatching MONDO:0010110 tetraamelia-multiple malformations syndrome skos:exactMatch OMIMPS:273395 Tetraamelia syndrome semapv:UnspecifiedMatching MONDO:0010110 tetraamelia-multiple malformations syndrome skos:exactMatch Orphanet:3301 Tetraamelia-multiple malformations syndrome semapv:UnspecifiedMatching MONDO:0010110 tetraamelia-multiple malformations syndrome skos:exactMatch SCTID:716249009 semapv:UnspecifiedMatching MONDO:0010110 tetraamelia-multiple malformations syndrome skos:exactMatch UMLS:C2931218 semapv:UnspecifiedMatching MONDO:0010110 tetraamelia-multiple malformations syndrome skos:exactMatch mesh:C536500 semapv:UnspecifiedMatching MONDO:0010111 odontotrichomelic syndrome skos:exactMatch MEDGEN:443944 semapv:UnspecifiedMatching MONDO:0010111 odontotrichomelic syndrome skos:exactMatch OMIM:273400 tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities semapv:UnspecifiedMatching MONDO:0010111 odontotrichomelic syndrome skos:exactMatch Orphanet:2723 Odontotrichomelic syndrome semapv:UnspecifiedMatching MONDO:0010111 odontotrichomelic syndrome skos:exactMatch SCTID:239028001 semapv:UnspecifiedMatching MONDO:0010111 odontotrichomelic syndrome skos:exactMatch UMLS:C2930960 semapv:UnspecifiedMatching MONDO:0010111 odontotrichomelic syndrome skos:exactMatch icd11.foundation:1999951139 Odontotrichomelic syndrome semapv:UnspecifiedMatching MONDO:0010111 odontotrichomelic syndrome skos:exactMatch mesh:C535637 semapv:UnspecifiedMatching MONDO:0010112 thalamic degeneration, symmetric infantile skos:exactMatch MEDGEN:419748 semapv:UnspecifiedMatching MONDO:0010112 thalamic degeneration, symmetric infantile skos:exactMatch OMIM:273490 thalamic degeneration, symmetric infantile semapv:UnspecifiedMatching MONDO:0010112 thalamic degeneration, symmetric infantile skos:exactMatch UMLS:C2931220 semapv:UnspecifiedMatching MONDO:0010112 thalamic degeneration, symmetric infantile skos:exactMatch mesh:C536504 semapv:UnspecifiedMatching MONDO:0010113 obsolete thalidomide susceptibility skos:exactMatch OMIM:273600 thalidomide susceptibility semapv:UnspecifiedMatching MONDO:0010114 thanatophoric dysplasia, Glasgow variant skos:exactMatch MEDGEN:376457 semapv:UnspecifiedMatching MONDO:0010114 thanatophoric dysplasia, Glasgow variant skos:exactMatch OMIM:273680 thanatophoric dysplasia, glasgow variant semapv:UnspecifiedMatching MONDO:0010114 thanatophoric dysplasia, Glasgow variant skos:exactMatch UMLS:C1848865 semapv:UnspecifiedMatching MONDO:0010114 thanatophoric dysplasia, Glasgow variant skos:exactMatch mesh:C536506 semapv:UnspecifiedMatching MONDO:0010115 thoracic dysplasia-hydrocephalus syndrome skos:exactMatch MEDGEN:338562 semapv:UnspecifiedMatching MONDO:0010115 thoracic dysplasia-hydrocephalus syndrome skos:exactMatch OMIM:273730 thoracic dysplasia-hydrocephalus syndrome semapv:UnspecifiedMatching MONDO:0010115 thoracic dysplasia-hydrocephalus syndrome skos:exactMatch Orphanet:1861 Thoracic dysplasia-hydrocephalus syndrome semapv:UnspecifiedMatching MONDO:0010115 thoracic dysplasia-hydrocephalus syndrome skos:exactMatch UMLS:C1848864 semapv:UnspecifiedMatching MONDO:0010115 thoracic dysplasia-hydrocephalus syndrome skos:exactMatch mesh:C564774 semapv:UnspecifiedMatching MONDO:0010116 thoracomelic dysplasia skos:exactMatch MEDGEN:336441 semapv:UnspecifiedMatching MONDO:0010116 thoracomelic dysplasia skos:exactMatch OMIM:273740 thoracomelic dysplasia semapv:UnspecifiedMatching MONDO:0010116 thoracomelic dysplasia skos:exactMatch Orphanet:1803 Thoracomelic dysplasia semapv:UnspecifiedMatching MONDO:0010116 thoracomelic dysplasia skos:exactMatch UMLS:C1848863 semapv:UnspecifiedMatching MONDO:0010116 thoracomelic dysplasia skos:exactMatch icd11.foundation:1284518024 Thoracomelic dysplasia semapv:UnspecifiedMatching MONDO:0010116 thoracomelic dysplasia skos:exactMatch mesh:C564773 semapv:UnspecifiedMatching MONDO:0010117 3M syndrome 1 skos:exactMatch MEDGEN:395592 semapv:UnspecifiedMatching MONDO:0010117 3M syndrome 1 skos:exactMatch OMIM:273750 three m syndrome 1 semapv:UnspecifiedMatching MONDO:0010117 3M syndrome 1 skos:exactMatch UMLS:C2678312 semapv:UnspecifiedMatching MONDO:0010118 inherited threoninemia skos:exactMatch MEDGEN:336439 semapv:UnspecifiedMatching MONDO:0010118 inherited threoninemia skos:exactMatch OMIM:273770 threoninemia semapv:UnspecifiedMatching MONDO:0010118 inherited threoninemia skos:exactMatch UMLS:C1848861 semapv:UnspecifiedMatching MONDO:0010120 thrombocytopenia 3 skos:exactMatch MEDGEN:437174 semapv:UnspecifiedMatching MONDO:0010120 thrombocytopenia 3 skos:exactMatch OMIM:273900 thrombocytopenia 3 semapv:UnspecifiedMatching MONDO:0010120 thrombocytopenia 3 skos:exactMatch UMLS:C2678311 semapv:UnspecifiedMatching MONDO:0010120 thrombocytopenia 3 skos:exactMatch mesh:C567487 semapv:UnspecifiedMatching MONDO:0010121 thrombocytopenia-absent radius syndrome skos:exactMatch DOID:14699 thrombocytopenia-absent radius syndrome semapv:UnspecifiedMatching MONDO:0010121 thrombocytopenia-absent radius syndrome skos:exactMatch MEDGEN:61235 semapv:UnspecifiedMatching MONDO:0010121 thrombocytopenia-absent radius syndrome skos:exactMatch NCIT:C99038 Radial Aplasia-Thrombocytopenia Syndrome semapv:UnspecifiedMatching MONDO:0010121 thrombocytopenia-absent radius syndrome skos:exactMatch OMIM:274000 thrombocytopenia-absent radius syndrome semapv:UnspecifiedMatching MONDO:0010121 thrombocytopenia-absent radius syndrome skos:exactMatch Orphanet:3320 Thrombocytopenia-absent radius syndrome semapv:UnspecifiedMatching MONDO:0010121 thrombocytopenia-absent radius syndrome skos:exactMatch SCTID:85589009 semapv:UnspecifiedMatching MONDO:0010121 thrombocytopenia-absent radius syndrome skos:exactMatch UMLS:C0175703 semapv:UnspecifiedMatching MONDO:0010121 thrombocytopenia-absent radius syndrome skos:exactMatch mesh:C536940 semapv:UnspecifiedMatching MONDO:0010122 congenital thrombotic thrombocytopenic purpura skos:exactMatch MEDGEN:224783 semapv:UnspecifiedMatching MONDO:0010122 congenital thrombotic thrombocytopenic purpura skos:exactMatch NCIT:C131657 Congenital Thrombotic Thrombocytopenic Purpura semapv:UnspecifiedMatching MONDO:0010122 congenital thrombotic thrombocytopenic purpura skos:exactMatch OMIM:274150 thrombotic thrombocytopenic purpura, hereditary semapv:UnspecifiedMatching MONDO:0010122 congenital thrombotic thrombocytopenic purpura skos:exactMatch Orphanet:93583 Congenital thrombotic thrombocytopenic purpura semapv:UnspecifiedMatching MONDO:0010122 congenital thrombotic thrombocytopenic purpura skos:exactMatch SCTID:373420004 semapv:UnspecifiedMatching MONDO:0010122 congenital thrombotic thrombocytopenic purpura skos:exactMatch UMLS:C1268935 semapv:UnspecifiedMatching MONDO:0010123 obsolete absent thumb-short stature-immunodeficiency syndrome skos:exactMatch OMIM:274190 thumb agenesis, short stature, and immunodeficiency semapv:UnspecifiedMatching MONDO:0010123 obsolete absent thumb-short stature-immunodeficiency syndrome skos:exactMatch Orphanet:2951 Absent thumb-short stature-immunodeficiency syndrome semapv:UnspecifiedMatching MONDO:0010123 obsolete absent thumb-short stature-immunodeficiency syndrome skos:exactMatch mesh:C564770 semapv:UnspecifiedMatching MONDO:0010124 thumb, distal hyperextensibility of skos:exactMatch MEDGEN:338552 semapv:UnspecifiedMatching MONDO:0010124 thumb, distal hyperextensibility of skos:exactMatch OMIM:274200 thumb, distal hyperextensibility of semapv:UnspecifiedMatching MONDO:0010124 thumb, distal hyperextensibility of skos:exactMatch UMLS:C1848817 semapv:UnspecifiedMatching MONDO:0010125 upper limb defect-eye and ear abnormalities syndrome skos:exactMatch MEDGEN:376448 semapv:UnspecifiedMatching MONDO:0010125 upper limb defect-eye and ear abnormalities syndrome skos:exactMatch OMIM:274205 thumb, hypoplastic, with choroid coloboma, poorly developed antihelix, and deafness semapv:UnspecifiedMatching MONDO:0010125 upper limb defect-eye and ear abnormalities syndrome skos:exactMatch Orphanet:2489 Upper limb defect-eye and ear abnormalities syndrome semapv:UnspecifiedMatching MONDO:0010125 upper limb defect-eye and ear abnormalities syndrome skos:exactMatch UMLS:C1848816 semapv:UnspecifiedMatching MONDO:0010125 upper limb defect-eye and ear abnormalities syndrome skos:exactMatch mesh:C564769 semapv:UnspecifiedMatching MONDO:0010126 thymic aplasia with fetal death skos:exactMatch MEDGEN:341312 semapv:UnspecifiedMatching MONDO:0010126 thymic aplasia with fetal death skos:exactMatch OMIM:274210 thymic aplasia with fetal death semapv:UnspecifiedMatching MONDO:0010126 thymic aplasia with fetal death skos:exactMatch UMLS:C1848815 semapv:UnspecifiedMatching MONDO:0010126 thymic aplasia with fetal death skos:exactMatch mesh:C564768 semapv:UnspecifiedMatching MONDO:0010127 thymoma, familial skos:exactMatch MEDGEN:376447 semapv:UnspecifiedMatching MONDO:0010127 thymoma, familial skos:exactMatch OMIM:274230 thymoma, familial semapv:UnspecifiedMatching MONDO:0010127 thymoma, familial skos:exactMatch UMLS:C1848814 semapv:UnspecifiedMatching MONDO:0010127 thymoma, familial skos:exactMatch mesh:C564767 semapv:UnspecifiedMatching MONDO:0010128 thyrocerebrorenal syndrome skos:exactMatch MEDGEN:341311 semapv:UnspecifiedMatching MONDO:0010128 thyrocerebrorenal syndrome skos:exactMatch OMIM:274240 thyrocerebroretinal syndrome semapv:UnspecifiedMatching MONDO:0010128 thyrocerebrorenal syndrome skos:exactMatch Orphanet:3327 Thyrocerebrorenal syndrome semapv:UnspecifiedMatching MONDO:0010128 thyrocerebrorenal syndrome skos:exactMatch SCTID:733096007 semapv:UnspecifiedMatching MONDO:0010128 thyrocerebrorenal syndrome skos:exactMatch UMLS:C1848813 semapv:UnspecifiedMatching MONDO:0010128 thyrocerebrorenal syndrome skos:exactMatch mesh:C536908 semapv:UnspecifiedMatching MONDO:0010129 thymic-renal-anal-lung dysplasia skos:exactMatch MEDGEN:336425 semapv:UnspecifiedMatching MONDO:0010129 thymic-renal-anal-lung dysplasia skos:exactMatch OMIM:274265 thymic-renal-anal-lung dysplasia semapv:UnspecifiedMatching MONDO:0010129 thymic-renal-anal-lung dysplasia skos:exactMatch Orphanet:3326 Thymic-renal-anal-lung dysplasia semapv:UnspecifiedMatching MONDO:0010129 thymic-renal-anal-lung dysplasia skos:exactMatch SCTID:723555007 semapv:UnspecifiedMatching MONDO:0010129 thymic-renal-anal-lung dysplasia skos:exactMatch UMLS:C1848812 semapv:UnspecifiedMatching MONDO:0010129 thymic-renal-anal-lung dysplasia skos:exactMatch mesh:C536907 semapv:UnspecifiedMatching MONDO:0010130 dihydropyrimidine dehydrogenase deficiency skos:exactMatch DOID:14218 dihydropyrimidine dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0010130 dihydropyrimidine dehydrogenase deficiency skos:exactMatch MEDGEN:409522 semapv:UnspecifiedMatching MONDO:0010130 dihydropyrimidine dehydrogenase deficiency skos:exactMatch NCIT:C84672 Dihydropyrimidine Dehydrogenase Deficiency semapv:UnspecifiedMatching MONDO:0010130 dihydropyrimidine dehydrogenase deficiency skos:exactMatch OMIM:274270 dihydropyrimidine dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0010130 dihydropyrimidine dehydrogenase deficiency skos:exactMatch Orphanet:1675 Dihydropyrimidine dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0010130 dihydropyrimidine dehydrogenase deficiency skos:exactMatch SCTID:77365006 semapv:UnspecifiedMatching MONDO:0010130 dihydropyrimidine dehydrogenase deficiency skos:exactMatch UMLS:C1959620 semapv:UnspecifiedMatching MONDO:0010130 dihydropyrimidine dehydrogenase deficiency skos:exactMatch icd11.foundation:701689290 Dihydropyrimidine dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0010130 dihydropyrimidine dehydrogenase deficiency skos:exactMatch mesh:D054067 semapv:UnspecifiedMatching MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive skos:exactMatch MEDGEN:483749 semapv:UnspecifiedMatching MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive skos:exactMatch NCIT:C85191 Thyroid Hormone Resistance Syndrome semapv:UnspecifiedMatching MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive skos:exactMatch OMIM:274300 thyroid hormone resistance, generalized, autosomal recessive semapv:UnspecifiedMatching MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive skos:exactMatch UMLS:C3489796 semapv:UnspecifiedMatching MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive skos:exactMatch mesh:C567936 semapv:UnspecifiedMatching MONDO:0010132 familial thyroid dyshormonogenesis skos:exactMatch DOID:0112183 familial thyroid dyshormonogenesis semapv:UnspecifiedMatching MONDO:0010132 familial thyroid dyshormonogenesis skos:exactMatch MEDGEN:903446 semapv:UnspecifiedMatching MONDO:0010132 familial thyroid dyshormonogenesis skos:exactMatch NCIT:C121751 Thyroid Dyshormonogenesis semapv:UnspecifiedMatching MONDO:0010132 familial thyroid dyshormonogenesis skos:exactMatch OMIMPS:274400 Thyroid dyshormonogenesis semapv:UnspecifiedMatching MONDO:0010132 familial thyroid dyshormonogenesis skos:exactMatch Orphanet:95716 Familial thyroid dyshormonogenesis semapv:UnspecifiedMatching MONDO:0010132 familial thyroid dyshormonogenesis skos:exactMatch SCTID:718183003 semapv:UnspecifiedMatching MONDO:0010132 familial thyroid dyshormonogenesis skos:exactMatch UMLS:C4273748 semapv:UnspecifiedMatching MONDO:0010132 familial thyroid dyshormonogenesis skos:exactMatch mesh:C564766 semapv:UnspecifiedMatching MONDO:0010133 thyroid dyshormonogenesis 2A skos:exactMatch DOID:0112186 thyroid dyshormonogenesis 2A semapv:UnspecifiedMatching MONDO:0010133 thyroid dyshormonogenesis 2A skos:exactMatch MEDGEN:226940 semapv:UnspecifiedMatching MONDO:0010133 thyroid dyshormonogenesis 2A skos:exactMatch NCIT:C121750 Thyroid Peroxidase Deficiency semapv:UnspecifiedMatching MONDO:0010133 thyroid dyshormonogenesis 2A skos:exactMatch OMIM:274500 thyroid dyshormonogenesis 2a semapv:UnspecifiedMatching MONDO:0010133 thyroid dyshormonogenesis 2A skos:exactMatch SCTID:124204003 semapv:UnspecifiedMatching MONDO:0010133 thyroid dyshormonogenesis 2A skos:exactMatch UMLS:C1291299 semapv:UnspecifiedMatching MONDO:0010133 thyroid dyshormonogenesis 2A skos:exactMatch mesh:C563206 semapv:UnspecifiedMatching MONDO:0010134 Pendred syndrome skos:exactMatch DOID:0060744 Pendred Syndrome semapv:UnspecifiedMatching MONDO:0010134 Pendred syndrome skos:exactMatch MEDGEN:82890 semapv:UnspecifiedMatching MONDO:0010134 Pendred syndrome skos:exactMatch NCIT:C121745 Pendred Syndrome semapv:UnspecifiedMatching MONDO:0010134 Pendred syndrome skos:exactMatch OMIM:274600 pendred syndrome semapv:UnspecifiedMatching MONDO:0010134 Pendred syndrome skos:exactMatch Orphanet:705 Pendred syndrome semapv:UnspecifiedMatching MONDO:0010134 Pendred syndrome skos:exactMatch SCTID:70348004 semapv:UnspecifiedMatching MONDO:0010134 Pendred syndrome skos:exactMatch UMLS:C0271829 semapv:UnspecifiedMatching MONDO:0010134 Pendred syndrome skos:exactMatch icd11.foundation:1156056623 Pendred syndrome semapv:UnspecifiedMatching MONDO:0010134 Pendred syndrome skos:exactMatch mesh:C536648 semapv:UnspecifiedMatching MONDO:0010135 thyroid dyshormonogenesis 3 skos:exactMatch DOID:0112187 thyroid dyshormonogenesis 3 semapv:UnspecifiedMatching MONDO:0010135 thyroid dyshormonogenesis 3 skos:exactMatch MEDGEN:90976 semapv:UnspecifiedMatching MONDO:0010135 thyroid dyshormonogenesis 3 skos:exactMatch OMIM:274700 thyroid dyshormonogenesis 3 semapv:UnspecifiedMatching MONDO:0010135 thyroid dyshormonogenesis 3 skos:exactMatch SCTID:23536000 semapv:UnspecifiedMatching MONDO:0010135 thyroid dyshormonogenesis 3 skos:exactMatch UMLS:C0342194 semapv:UnspecifiedMatching MONDO:0010135 thyroid dyshormonogenesis 3 skos:exactMatch mesh:C562769 semapv:UnspecifiedMatching MONDO:0010136 thyroid dyshormonogenesis 4 skos:exactMatch DOID:0112188 thyroid dyshormonogenesis 4 semapv:UnspecifiedMatching MONDO:0010136 thyroid dyshormonogenesis 4 skos:exactMatch MEDGEN:87429 semapv:UnspecifiedMatching MONDO:0010136 thyroid dyshormonogenesis 4 skos:exactMatch OMIM:274800 thyroid dyshormonogenesis 4 semapv:UnspecifiedMatching MONDO:0010136 thyroid dyshormonogenesis 4 skos:exactMatch SCTID:17885001 semapv:UnspecifiedMatching MONDO:0010136 thyroid dyshormonogenesis 4 skos:exactMatch UMLS:C0342195 semapv:UnspecifiedMatching MONDO:0010136 thyroid dyshormonogenesis 4 skos:exactMatch mesh:C562770 semapv:UnspecifiedMatching MONDO:0010137 thyroid dyshormonogenesis 5 skos:exactMatch DOID:0112184 thyroid dyshormonogenesis 5 semapv:UnspecifiedMatching MONDO:0010137 thyroid dyshormonogenesis 5 skos:exactMatch MEDGEN:87430 semapv:UnspecifiedMatching MONDO:0010137 thyroid dyshormonogenesis 5 skos:exactMatch OMIM:274900 thyroid dyshormonogenesis 5 semapv:UnspecifiedMatching MONDO:0010137 thyroid dyshormonogenesis 5 skos:exactMatch SCTID:63127008 semapv:UnspecifiedMatching MONDO:0010137 thyroid dyshormonogenesis 5 skos:exactMatch UMLS:C0342196 semapv:UnspecifiedMatching MONDO:0010137 thyroid dyshormonogenesis 5 skos:exactMatch mesh:C562771 semapv:UnspecifiedMatching MONDO:0010138 thyrotoxicosis skos:exactMatch DOID:7997 thyrotoxicosis semapv:UnspecifiedMatching MONDO:0010138 thyrotoxicosis skos:exactMatch EFO:0009190 semapv:UnspecifiedMatching MONDO:0010138 thyrotoxicosis skos:exactMatch ICD10CM:E05 Thyrotoxicosis [hyperthyroidism] semapv:UnspecifiedMatching MONDO:0010138 thyrotoxicosis skos:exactMatch MEDGEN:11814 semapv:UnspecifiedMatching MONDO:0010138 thyrotoxicosis skos:exactMatch NCIT:C61469 Thyrotoxicosis semapv:UnspecifiedMatching MONDO:0010138 thyrotoxicosis skos:exactMatch SCTID:90739004 semapv:UnspecifiedMatching MONDO:0010138 thyrotoxicosis skos:exactMatch UMLS:C0040156 semapv:UnspecifiedMatching MONDO:0010138 thyrotoxicosis skos:exactMatch icd11.foundation:1470387017 Thyrotoxicosis semapv:UnspecifiedMatching MONDO:0010138 thyrotoxicosis skos:exactMatch mesh:D013971 semapv:UnspecifiedMatching MONDO:0010139 isolated thyroid-stimulating hormone deficiency skos:exactMatch DOID:0070123 congenital nongoitrous hypothyroidism 4 semapv:UnspecifiedMatching MONDO:0010139 isolated thyroid-stimulating hormone deficiency skos:exactMatch MEDGEN:78786 semapv:UnspecifiedMatching MONDO:0010139 isolated thyroid-stimulating hormone deficiency skos:exactMatch OMIM:275100 hypothyroidism, congenital, nongoitrous, 4 semapv:UnspecifiedMatching MONDO:0010139 isolated thyroid-stimulating hormone deficiency skos:exactMatch Orphanet:90674 Isolated thyroid-stimulating hormone deficiency semapv:UnspecifiedMatching MONDO:0010139 isolated thyroid-stimulating hormone deficiency skos:exactMatch UMLS:C0271789 semapv:UnspecifiedMatching MONDO:0010140 isolated thyrotropin-releasing hormone deficiency skos:exactMatch MEDGEN:854700 semapv:UnspecifiedMatching MONDO:0010140 isolated thyrotropin-releasing hormone deficiency skos:exactMatch NCIT:C121741 Hypothalamic Hypothyroidism semapv:UnspecifiedMatching MONDO:0010140 isolated thyrotropin-releasing hormone deficiency skos:exactMatch OMIM:275120 thyrotropin-releasing hormone deficiency semapv:UnspecifiedMatching MONDO:0010140 isolated thyrotropin-releasing hormone deficiency skos:exactMatch Orphanet:238670 Isolated thyrotropin-releasing hormone deficiency semapv:UnspecifiedMatching MONDO:0010140 isolated thyrotropin-releasing hormone deficiency skos:exactMatch SCTID:10736002 semapv:UnspecifiedMatching MONDO:0010140 isolated thyrotropin-releasing hormone deficiency skos:exactMatch UMLS:C3887992 semapv:UnspecifiedMatching MONDO:0010141 tiglic acidemia skos:exactMatch MEDGEN:376443 semapv:UnspecifiedMatching MONDO:0010141 tiglic acidemia skos:exactMatch OMIM:275190 tiglic acidemia semapv:UnspecifiedMatching MONDO:0010141 tiglic acidemia skos:exactMatch SCTID:444755001 semapv:UnspecifiedMatching MONDO:0010141 tiglic acidemia skos:exactMatch UMLS:C1848793 semapv:UnspecifiedMatching MONDO:0010141 tiglic acidemia skos:exactMatch mesh:C536921 semapv:UnspecifiedMatching MONDO:0010142 hypothyroidism due to TSH receptor mutations skos:exactMatch DOID:0070126 congenital nongoitrous hypothyroidism 1 semapv:UnspecifiedMatching MONDO:0010142 hypothyroidism due to TSH receptor mutations skos:exactMatch MEDGEN:487729 semapv:UnspecifiedMatching MONDO:0010142 hypothyroidism due to TSH receptor mutations skos:exactMatch OMIM:275200 hypothyroidism, congenital, nongoitrous, 1 semapv:UnspecifiedMatching MONDO:0010142 hypothyroidism due to TSH receptor mutations skos:exactMatch Orphanet:90673 Hypothyroidism due to TSH receptor mutations semapv:UnspecifiedMatching MONDO:0010142 hypothyroidism due to TSH receptor mutations skos:exactMatch UMLS:C3493776 semapv:UnspecifiedMatching MONDO:0010144 tibial hemimelia skos:exactMatch MEDGEN:120551 semapv:UnspecifiedMatching MONDO:0010144 tibial hemimelia skos:exactMatch OMIM:275220 tibial hemimelia semapv:UnspecifiedMatching MONDO:0010144 tibial hemimelia skos:exactMatch Orphanet:93322 Isolated tibial hemimelia semapv:UnspecifiedMatching MONDO:0010144 tibial hemimelia skos:exactMatch SCTID:79177001 semapv:UnspecifiedMatching MONDO:0010144 tibial hemimelia skos:exactMatch UMLS:C0265633 semapv:UnspecifiedMatching MONDO:0010144 tibial hemimelia skos:exactMatch icd11.foundation:1111258427 Tibial hemimelia semapv:UnspecifiedMatching MONDO:0010144 tibial hemimelia skos:exactMatch mesh:C535563 semapv:UnspecifiedMatching MONDO:0010145 tibia, absence of, with congenital deafness skos:exactMatch MEDGEN:336413 semapv:UnspecifiedMatching MONDO:0010145 tibia, absence of, with congenital deafness skos:exactMatch OMIM:275230 tibia, absence of, with congenital deafness semapv:UnspecifiedMatching MONDO:0010145 tibia, absence of, with congenital deafness skos:exactMatch UMLS:C1848758 semapv:UnspecifiedMatching MONDO:0010145 tibia, absence of, with congenital deafness skos:exactMatch mesh:C564764 semapv:UnspecifiedMatching MONDO:0010146 Kerion celsi skos:exactMatch MEDGEN:124446 semapv:UnspecifiedMatching MONDO:0010146 Kerion celsi skos:exactMatch OMIM:275240 tinea imbricata, susceptibility to semapv:UnspecifiedMatching MONDO:0010146 Kerion celsi skos:exactMatch Orphanet:499 Kerion celsi semapv:UnspecifiedMatching MONDO:0010146 Kerion celsi skos:exactMatch SCTID:19087001 semapv:UnspecifiedMatching MONDO:0010146 Kerion celsi skos:exactMatch UMLS:C0276742 semapv:UnspecifiedMatching MONDO:0010146 Kerion celsi skos:exactMatch icd11.foundation:1449494917 Kerion semapv:UnspecifiedMatching MONDO:0010147 tongue, pigmented fungiform papillae of skos:exactMatch MEDGEN:336411 semapv:UnspecifiedMatching MONDO:0010147 tongue, pigmented fungiform papillae of skos:exactMatch OMIM:275250 tongue, pigmented fungiform papillae of semapv:UnspecifiedMatching MONDO:0010147 tongue, pigmented fungiform papillae of skos:exactMatch UMLS:C1848756 semapv:UnspecifiedMatching MONDO:0010148 Mounier-Kuhn syndrome skos:exactMatch MEDGEN:11871 semapv:UnspecifiedMatching MONDO:0010148 Mounier-Kuhn syndrome skos:exactMatch NCIT:C85196 Tracheobronchomegaly semapv:UnspecifiedMatching MONDO:0010148 Mounier-Kuhn syndrome skos:exactMatch OMIM:275300 tracheobronchomegaly semapv:UnspecifiedMatching MONDO:0010148 Mounier-Kuhn syndrome skos:exactMatch Orphanet:3347 Mounier-Kühn syndrome semapv:UnspecifiedMatching MONDO:0010148 Mounier-Kuhn syndrome skos:exactMatch SCTID:57451009 semapv:UnspecifiedMatching MONDO:0010148 Mounier-Kuhn syndrome skos:exactMatch UMLS:C0040587 semapv:UnspecifiedMatching MONDO:0010148 Mounier-Kuhn syndrome skos:exactMatch mesh:D014137 semapv:UnspecifiedMatching MONDO:0010149 transcobalamin II deficiency skos:exactMatch DOID:0050818 transcobalamin II deficiency semapv:UnspecifiedMatching MONDO:0010149 transcobalamin II deficiency skos:exactMatch ICD10CM:D51.2 Transcobalamin II deficiency semapv:UnspecifiedMatching MONDO:0010149 transcobalamin II deficiency skos:exactMatch MEDGEN:137976 semapv:UnspecifiedMatching MONDO:0010149 transcobalamin II deficiency skos:exactMatch NCIT:C142806 Transcobalamin II Deficiency semapv:UnspecifiedMatching MONDO:0010149 transcobalamin II deficiency skos:exactMatch OMIM:275350 transcobalamin 2 deficiency semapv:UnspecifiedMatching MONDO:0010149 transcobalamin II deficiency skos:exactMatch Orphanet:859 Transcobalamin deficiency semapv:UnspecifiedMatching MONDO:0010149 transcobalamin II deficiency skos:exactMatch SCTID:237934001 semapv:UnspecifiedMatching MONDO:0010149 transcobalamin II deficiency skos:exactMatch UMLS:C0342701 semapv:UnspecifiedMatching MONDO:0010150 head and neck squamous cell carcinoma skos:exactMatch DOID:5520 head and neck squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0010150 head and neck squamous cell carcinoma skos:exactMatch EFO:0000181 semapv:UnspecifiedMatching MONDO:0010150 head and neck squamous cell carcinoma skos:exactMatch MEDGEN:257911 semapv:UnspecifiedMatching MONDO:0010150 head and neck squamous cell carcinoma skos:exactMatch NCIT:C34447 Head and Neck Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0010150 head and neck squamous cell carcinoma skos:exactMatch OMIM:275355 squamous cell carcinoma, head and neck semapv:UnspecifiedMatching MONDO:0010150 head and neck squamous cell carcinoma skos:exactMatch Orphanet:67037 Squamous cell carcinoma of head and neck semapv:UnspecifiedMatching MONDO:0010150 head and neck squamous cell carcinoma skos:exactMatch SCTID:716659002 semapv:UnspecifiedMatching MONDO:0010150 head and neck squamous cell carcinoma skos:exactMatch UMLS:C1168401 semapv:UnspecifiedMatching MONDO:0010150 head and neck squamous cell carcinoma skos:exactMatch mesh:C535575 semapv:UnspecifiedMatching MONDO:0010151 tricarboxylic acid cycle, defect of skos:exactMatch MEDGEN:376430 semapv:UnspecifiedMatching MONDO:0010151 tricarboxylic acid cycle, defect of skos:exactMatch OMIM:275370 tricarboxylic acid cycle, defect of semapv:UnspecifiedMatching MONDO:0010151 tricarboxylic acid cycle, defect of skos:exactMatch UMLS:C1848746 semapv:UnspecifiedMatching MONDO:0010151 tricarboxylic acid cycle, defect of skos:exactMatch mesh:C564762 semapv:UnspecifiedMatching MONDO:0010152 trichomegaly-retina pigmentary degeneration-dwarfism syndrome skos:exactMatch DOID:0111271 Oliver-McFarlane syndrome semapv:UnspecifiedMatching MONDO:0010152 trichomegaly-retina pigmentary degeneration-dwarfism syndrome skos:exactMatch MEDGEN:338532 semapv:UnspecifiedMatching MONDO:0010152 trichomegaly-retina pigmentary degeneration-dwarfism syndrome skos:exactMatch OMIM:275400 oliver-mcfarlane syndrome semapv:UnspecifiedMatching MONDO:0010152 trichomegaly-retina pigmentary degeneration-dwarfism syndrome skos:exactMatch Orphanet:3363 Trichomegaly-retina pigmentary degeneration-dwarfism syndrome semapv:UnspecifiedMatching MONDO:0010152 trichomegaly-retina pigmentary degeneration-dwarfism syndrome skos:exactMatch SCTID:719944006 semapv:UnspecifiedMatching MONDO:0010152 trichomegaly-retina pigmentary degeneration-dwarfism syndrome skos:exactMatch UMLS:C1848745 semapv:UnspecifiedMatching MONDO:0010152 trichomegaly-retina pigmentary degeneration-dwarfism syndrome skos:exactMatch mesh:C536554 semapv:UnspecifiedMatching MONDO:0010153 trichoodontoonychial dysplasia skos:exactMatch MEDGEN:481087 semapv:UnspecifiedMatching MONDO:0010153 trichoodontoonychial dysplasia skos:exactMatch OMIM:275450 trichoodontoonychial dysplasia with bone deficiency semapv:UnspecifiedMatching MONDO:0010153 trichoodontoonychial dysplasia skos:exactMatch Orphanet:3355 Trichoodontoonychial dysplasia semapv:UnspecifiedMatching MONDO:0010153 trichoodontoonychial dysplasia skos:exactMatch SCTID:766813000 semapv:UnspecifiedMatching MONDO:0010153 trichoodontoonychial dysplasia skos:exactMatch UMLS:C3279457 semapv:UnspecifiedMatching MONDO:0010153 trichoodontoonychial dysplasia skos:exactMatch mesh:C564760 semapv:UnspecifiedMatching MONDO:0010154 trigonocephaly-bifid nose-acral anomalies syndrome skos:exactMatch MEDGEN:341296 semapv:UnspecifiedMatching MONDO:0010154 trigonocephaly-bifid nose-acral anomalies syndrome skos:exactMatch OMIM:275595 trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet semapv:UnspecifiedMatching MONDO:0010154 trigonocephaly-bifid nose-acral anomalies syndrome skos:exactMatch Orphanet:3368 Trigonocephaly-bifid nose-acral anomalies syndrome semapv:UnspecifiedMatching MONDO:0010154 trigonocephaly-bifid nose-acral anomalies syndrome skos:exactMatch UMLS:C1848743 semapv:UnspecifiedMatching MONDO:0010154 trigonocephaly-bifid nose-acral anomalies syndrome skos:exactMatch mesh:C564759 semapv:UnspecifiedMatching MONDO:0010155 Dorfman-Chanarin disease skos:exactMatch MEDGEN:82780 semapv:UnspecifiedMatching MONDO:0010155 Dorfman-Chanarin disease skos:exactMatch OMIM:275630 chanarin-dorfman syndrome semapv:UnspecifiedMatching MONDO:0010155 Dorfman-Chanarin disease skos:exactMatch Orphanet:98907 Neutral lipid storage disease with ichthyosis semapv:UnspecifiedMatching MONDO:0010155 Dorfman-Chanarin disease skos:exactMatch SCTID:19604005 semapv:UnspecifiedMatching MONDO:0010155 Dorfman-Chanarin disease skos:exactMatch UMLS:C0268238 semapv:UnspecifiedMatching MONDO:0010155 Dorfman-Chanarin disease skos:exactMatch icd11.foundation:690728790 Dorfman-Chanarin disease semapv:UnspecifiedMatching MONDO:0010156 Troyer syndrome skos:exactMatch DOID:0050886 Troyer syndrome semapv:UnspecifiedMatching MONDO:0010156 Troyer syndrome skos:exactMatch MEDGEN:97950 semapv:UnspecifiedMatching MONDO:0010156 Troyer syndrome skos:exactMatch OMIM:275900 spastic paraplegia 20, autosomal recessive semapv:UnspecifiedMatching MONDO:0010156 Troyer syndrome skos:exactMatch Orphanet:101000 Autosomal recessive spastic paraplegia type 20 semapv:UnspecifiedMatching MONDO:0010156 Troyer syndrome skos:exactMatch SCTID:230264003 semapv:UnspecifiedMatching MONDO:0010156 Troyer syndrome skos:exactMatch UMLS:C0393559 semapv:UnspecifiedMatching MONDO:0010156 Troyer syndrome skos:exactMatch mesh:C536858 semapv:UnspecifiedMatching MONDO:0010157 Tryptophanuria with dwarfism skos:exactMatch MEDGEN:78680 semapv:UnspecifiedMatching MONDO:0010157 Tryptophanuria with dwarfism skos:exactMatch OMIM:276100 tryptophanuria with dwarfism semapv:UnspecifiedMatching MONDO:0010157 Tryptophanuria with dwarfism skos:exactMatch SCTID:12045002 semapv:UnspecifiedMatching MONDO:0010157 Tryptophanuria with dwarfism skos:exactMatch UMLS:C0268473 semapv:UnspecifiedMatching MONDO:0010157 Tryptophanuria with dwarfism skos:exactMatch mesh:C562658 semapv:UnspecifiedMatching MONDO:0010158 T-substance anomaly skos:exactMatch MEDGEN:338528 semapv:UnspecifiedMatching MONDO:0010158 T-substance anomaly skos:exactMatch OMIM:276200 t-substance anomaly semapv:UnspecifiedMatching MONDO:0010158 T-substance anomaly skos:exactMatch UMLS:C1848724 semapv:UnspecifiedMatching MONDO:0010159 mismatch repair cancer syndrome 1 skos:exactMatch MEDGEN:1748029 semapv:UnspecifiedMatching MONDO:0010159 mismatch repair cancer syndrome 1 skos:exactMatch OMIM:276300 mismatch repair cancer syndrome 1 semapv:UnspecifiedMatching MONDO:0010159 mismatch repair cancer syndrome 1 skos:exactMatch SCTID:61665008 semapv:UnspecifiedMatching MONDO:0010159 mismatch repair cancer syndrome 1 skos:exactMatch UMLS:C5399763 semapv:UnspecifiedMatching MONDO:0010159 mismatch repair cancer syndrome 1 skos:exactMatch mesh:C536928 semapv:UnspecifiedMatching MONDO:0010160 tyrosinemia type II skos:exactMatch DOID:0050725 tyrosinemia type II semapv:UnspecifiedMatching MONDO:0010160 tyrosinemia type II skos:exactMatch MEDGEN:75687 semapv:UnspecifiedMatching MONDO:0010160 tyrosinemia type II skos:exactMatch NCIT:C129032 Tyrosinemia Type II semapv:UnspecifiedMatching MONDO:0010160 tyrosinemia type II skos:exactMatch OMIM:276600 tyrosinemia, type 2 semapv:UnspecifiedMatching MONDO:0010160 tyrosinemia type II skos:exactMatch Orphanet:28378 Tyrosinemia type 2 semapv:UnspecifiedMatching MONDO:0010160 tyrosinemia type II skos:exactMatch SCTID:4887000 semapv:UnspecifiedMatching MONDO:0010160 tyrosinemia type II skos:exactMatch UMLS:C0268487 semapv:UnspecifiedMatching MONDO:0010160 tyrosinemia type II skos:exactMatch icd11.foundation:1900229795 Tyrosinaemia type 2 semapv:UnspecifiedMatching MONDO:0010161 tyrosinemia type I skos:exactMatch DOID:0050726 tyrosinemia type I semapv:UnspecifiedMatching MONDO:0010161 tyrosinemia type I skos:exactMatch MEDGEN:75688 semapv:UnspecifiedMatching MONDO:0010161 tyrosinemia type I skos:exactMatch NCIT:C98641 Tyrosinemia Type I semapv:UnspecifiedMatching MONDO:0010161 tyrosinemia type I skos:exactMatch OMIM:276700 tyrosinemia, type 1 semapv:UnspecifiedMatching MONDO:0010161 tyrosinemia type I skos:exactMatch Orphanet:882 Tyrosinemia type 1 semapv:UnspecifiedMatching MONDO:0010161 tyrosinemia type I skos:exactMatch SCTID:410056006 semapv:UnspecifiedMatching MONDO:0010161 tyrosinemia type I skos:exactMatch UMLS:C0268490 semapv:UnspecifiedMatching MONDO:0010161 tyrosinemia type I skos:exactMatch icd11.foundation:2029519782 Tyrosinaemia type 1 semapv:UnspecifiedMatching MONDO:0010162 tyrosinemia type III skos:exactMatch DOID:0050727 tyrosinemia type III semapv:UnspecifiedMatching MONDO:0010162 tyrosinemia type III skos:exactMatch MEDGEN:78694 semapv:UnspecifiedMatching MONDO:0010162 tyrosinemia type III skos:exactMatch OMIM:276710 tyrosinemia, type 3 semapv:UnspecifiedMatching MONDO:0010162 tyrosinemia type III skos:exactMatch Orphanet:69723 Tyrosinemia type 3 semapv:UnspecifiedMatching MONDO:0010162 tyrosinemia type III skos:exactMatch SCTID:415764005 semapv:UnspecifiedMatching MONDO:0010162 tyrosinemia type III skos:exactMatch UMLS:C0268623 semapv:UnspecifiedMatching MONDO:0010163 Tyrosinosis skos:exactMatch MEDGEN:78683 semapv:UnspecifiedMatching MONDO:0010163 Tyrosinosis skos:exactMatch OMIM:276800 tyrosinosis semapv:UnspecifiedMatching MONDO:0010163 Tyrosinosis skos:exactMatch SCTID:57414003 semapv:UnspecifiedMatching MONDO:0010163 Tyrosinosis skos:exactMatch UMLS:C0268484 semapv:UnspecifiedMatching MONDO:0010163 Tyrosinosis skos:exactMatch mesh:C562659 semapv:UnspecifiedMatching MONDO:0010164 phocomelia, Schinzel type skos:exactMatch DOID:0112181 Schinzel type phocomelia semapv:UnspecifiedMatching MONDO:0010164 phocomelia, Schinzel type skos:exactMatch MEDGEN:336388 semapv:UnspecifiedMatching MONDO:0010164 phocomelia, Schinzel type skos:exactMatch OMIM:276820 ulna and fibula, absence of, with severe limb deficiency semapv:UnspecifiedMatching MONDO:0010164 phocomelia, Schinzel type skos:exactMatch Orphanet:2879 Phocomelia, Schinzel type semapv:UnspecifiedMatching MONDO:0010164 phocomelia, Schinzel type skos:exactMatch SCTID:715522000 semapv:UnspecifiedMatching MONDO:0010164 phocomelia, Schinzel type skos:exactMatch UMLS:C1848651 semapv:UnspecifiedMatching MONDO:0010164 phocomelia, Schinzel type skos:exactMatch icd11.foundation:1732271544 Phocomelia, Schinzel type semapv:UnspecifiedMatching MONDO:0010164 phocomelia, Schinzel type skos:exactMatch mesh:C535612 semapv:UnspecifiedMatching MONDO:0010165 ulna hypoplasia-intellectual disability syndrome skos:exactMatch MEDGEN:341275 semapv:UnspecifiedMatching MONDO:0010165 ulna hypoplasia-intellectual disability syndrome skos:exactMatch OMIM:276821 ulnar hypoplasia with impaired intellectual development semapv:UnspecifiedMatching MONDO:0010165 ulna hypoplasia-intellectual disability syndrome skos:exactMatch Orphanet:2249 Ulna hypoplasia-intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0010165 ulna hypoplasia-intellectual disability syndrome skos:exactMatch UMLS:C1848650 semapv:UnspecifiedMatching MONDO:0010165 ulna hypoplasia-intellectual disability syndrome skos:exactMatch mesh:C564757 semapv:UnspecifiedMatching MONDO:0010166 ulnar agenesis and endocardial fibroelastosis skos:exactMatch MEDGEN:336387 semapv:UnspecifiedMatching MONDO:0010166 ulnar agenesis and endocardial fibroelastosis skos:exactMatch OMIM:276822 ulnar agenesis and endocardial fibroelastosis semapv:UnspecifiedMatching MONDO:0010166 ulnar agenesis and endocardial fibroelastosis skos:exactMatch UMLS:C1848649 semapv:UnspecifiedMatching MONDO:0010166 ulnar agenesis and endocardial fibroelastosis skos:exactMatch mesh:C564756 semapv:UnspecifiedMatching MONDO:0010167 urocanic aciduria skos:exactMatch DOID:0112180 urocanase deficiency semapv:UnspecifiedMatching MONDO:0010167 urocanic aciduria skos:exactMatch MEDGEN:120644 semapv:UnspecifiedMatching MONDO:0010167 urocanic aciduria skos:exactMatch OMIM:276880 urocanase deficiency semapv:UnspecifiedMatching MONDO:0010167 urocanic aciduria skos:exactMatch Orphanet:210128 Urocanic aciduria semapv:UnspecifiedMatching MONDO:0010167 urocanic aciduria skos:exactMatch SCTID:60952007 semapv:UnspecifiedMatching MONDO:0010167 urocanic aciduria skos:exactMatch UMLS:C0268514 semapv:UnspecifiedMatching MONDO:0010167 urocanic aciduria skos:exactMatch icd11.foundation:61773927 Urocanic aciduria semapv:UnspecifiedMatching MONDO:0010167 urocanic aciduria skos:exactMatch mesh:C536479 semapv:UnspecifiedMatching MONDO:0010168 Usher syndrome type 1 skos:exactMatch DOID:0110826 Usher syndrome type 1 semapv:UnspecifiedMatching MONDO:0010168 Usher syndrome type 1 skos:exactMatch MEDGEN:292820 semapv:UnspecifiedMatching MONDO:0010168 Usher syndrome type 1 skos:exactMatch NCIT:C126327 Usher Syndrome Type 1 semapv:UnspecifiedMatching MONDO:0010168 Usher syndrome type 1 skos:exactMatch Orphanet:231169 Usher syndrome type 1 semapv:UnspecifiedMatching MONDO:0010168 Usher syndrome type 1 skos:exactMatch SCTID:232057003 semapv:UnspecifiedMatching MONDO:0010168 Usher syndrome type 1 skos:exactMatch UMLS:C1568247 semapv:UnspecifiedMatching MONDO:0010168 Usher syndrome type 1 skos:exactMatch icd11.foundation:237039059 Usher syndrome type 1 semapv:UnspecifiedMatching MONDO:0010169 Usher syndrome type 2A skos:exactMatch DOID:0110838 Usher syndrome type 2A semapv:UnspecifiedMatching MONDO:0010169 Usher syndrome type 2A skos:exactMatch MEDGEN:338513 semapv:UnspecifiedMatching MONDO:0010169 Usher syndrome type 2A skos:exactMatch OMIM:276901 usher syndrome, type 2a semapv:UnspecifiedMatching MONDO:0010169 Usher syndrome type 2A skos:exactMatch UMLS:C1848634 semapv:UnspecifiedMatching MONDO:0010169 Usher syndrome type 2A skos:exactMatch mesh:C536490 semapv:UnspecifiedMatching MONDO:0010170 Usher syndrome type 3A skos:exactMatch DOID:0110841 Usher syndrome type 3A semapv:UnspecifiedMatching MONDO:0010170 Usher syndrome type 3A skos:exactMatch MEDGEN:1830415 semapv:UnspecifiedMatching MONDO:0010170 Usher syndrome type 3A skos:exactMatch OMIM:276902 usher syndrome, type 3a semapv:UnspecifiedMatching MONDO:0010170 Usher syndrome type 3A skos:exactMatch UMLS:C5779850 semapv:UnspecifiedMatching MONDO:0010171 Usher syndrome type 1C skos:exactMatch DOID:0110830 Usher syndrome type 1C semapv:UnspecifiedMatching MONDO:0010171 Usher syndrome type 1C skos:exactMatch MEDGEN:338506 semapv:UnspecifiedMatching MONDO:0010171 Usher syndrome type 1C skos:exactMatch OMIM:276904 usher syndrome, type 1c semapv:UnspecifiedMatching MONDO:0010171 Usher syndrome type 1C skos:exactMatch UMLS:C1848604 semapv:UnspecifiedMatching MONDO:0010172 VACTERL with hydrocephalus skos:exactMatch MEDGEN:376400 semapv:UnspecifiedMatching MONDO:0010172 VACTERL with hydrocephalus skos:exactMatch OMIM:276950 vacterl association with hydrocephalus semapv:UnspecifiedMatching MONDO:0010172 VACTERL with hydrocephalus skos:exactMatch Orphanet:3412 VACTERL with hydrocephalus semapv:UnspecifiedMatching MONDO:0010172 VACTERL with hydrocephalus skos:exactMatch UMLS:C1848599 semapv:UnspecifiedMatching MONDO:0010172 VACTERL with hydrocephalus skos:exactMatch icd11.foundation:1646268729 VACTERL with hydrocephalus semapv:UnspecifiedMatching MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:exactMatch DOID:0112178 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 semapv:UnspecifiedMatching MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:exactMatch MEDGEN:1797978 semapv:UnspecifiedMatching MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:exactMatch OMIM:277000 mayer-rokitansky-kuster-hauser syndrome semapv:UnspecifiedMatching MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:exactMatch Orphanet:247775 Mayer-Rokitansky-Küster-Hauser syndrome type 1 semapv:UnspecifiedMatching MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:exactMatch UMLS:C5566555 semapv:UnspecifiedMatching MONDO:0010174 Valinemia skos:exactMatch MEDGEN:120652 semapv:UnspecifiedMatching MONDO:0010174 Valinemia skos:exactMatch OMIM:277100 valinemia semapv:UnspecifiedMatching MONDO:0010174 Valinemia skos:exactMatch SCTID:47719001 semapv:UnspecifiedMatching MONDO:0010174 Valinemia skos:exactMatch UMLS:C0268573 semapv:UnspecifiedMatching MONDO:0010174 Valinemia skos:exactMatch mesh:C536524 semapv:UnspecifiedMatching MONDO:0010175 van Bogaert-Hozay syndrome skos:exactMatch MEDGEN:341263 semapv:UnspecifiedMatching MONDO:0010175 van Bogaert-Hozay syndrome skos:exactMatch OMIM:277150 van bogaert-hozay syndrome semapv:UnspecifiedMatching MONDO:0010175 van Bogaert-Hozay syndrome skos:exactMatch UMLS:C1848598 semapv:UnspecifiedMatching MONDO:0010175 van Bogaert-Hozay syndrome skos:exactMatch mesh:C536526 semapv:UnspecifiedMatching MONDO:0010176 orofaciodigital syndrome type 6 skos:exactMatch DOID:0060376 Joubert syndrome with orofaciodigital defect semapv:UnspecifiedMatching MONDO:0010176 orofaciodigital syndrome type 6 skos:exactMatch MEDGEN:411200 semapv:UnspecifiedMatching MONDO:0010176 orofaciodigital syndrome type 6 skos:exactMatch NCIT:C124841 Orofaciodigital Syndrome Type 6 semapv:UnspecifiedMatching MONDO:0010176 orofaciodigital syndrome type 6 skos:exactMatch OMIM:277170 orofaciodigital syndrome 6 semapv:UnspecifiedMatching MONDO:0010176 orofaciodigital syndrome type 6 skos:exactMatch Orphanet:2754 Orofaciodigital syndrome type 6 semapv:UnspecifiedMatching MONDO:0010176 orofaciodigital syndrome type 6 skos:exactMatch SCTID:721873007 semapv:UnspecifiedMatching MONDO:0010176 orofaciodigital syndrome type 6 skos:exactMatch UMLS:C2745997 semapv:UnspecifiedMatching MONDO:0010176 orofaciodigital syndrome type 6 skos:exactMatch mesh:C536531 semapv:UnspecifiedMatching MONDO:0010177 vascular hyalinosis skos:exactMatch MEDGEN:376398 semapv:UnspecifiedMatching MONDO:0010177 vascular hyalinosis skos:exactMatch OMIM:277175 vascular hyalinosis semapv:UnspecifiedMatching MONDO:0010177 vascular hyalinosis skos:exactMatch Orphanet:3018 Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome semapv:UnspecifiedMatching MONDO:0010177 vascular hyalinosis skos:exactMatch UMLS:C1848590 semapv:UnspecifiedMatching MONDO:0010177 vascular hyalinosis skos:exactMatch mesh:C564750 semapv:UnspecifiedMatching MONDO:0010178 congenital bilateral aplasia of vas deferens from CFTR mutation skos:exactMatch DOID:0111864 autosomal recessive congenital bilateral absence of vas deferens semapv:UnspecifiedMatching MONDO:0010178 congenital bilateral aplasia of vas deferens from CFTR mutation skos:exactMatch MEDGEN:98021 semapv:UnspecifiedMatching MONDO:0010178 congenital bilateral aplasia of vas deferens from CFTR mutation skos:exactMatch NCIT:C129303 Congenital Bilateral Aplasia of the Vas Deferens semapv:UnspecifiedMatching MONDO:0010178 congenital bilateral aplasia of vas deferens from CFTR mutation skos:exactMatch OMIM:277180 vas deferens, congenital bilateral aplasia of semapv:UnspecifiedMatching MONDO:0010178 congenital bilateral aplasia of vas deferens from CFTR mutation skos:exactMatch UMLS:C0403814 semapv:UnspecifiedMatching MONDO:0010179 isolated right ventricular hypoplasia skos:exactMatch MEDGEN:336377 semapv:UnspecifiedMatching MONDO:0010179 isolated right ventricular hypoplasia skos:exactMatch OMIM:277200 right ventricular hypoplasia, isolated semapv:UnspecifiedMatching MONDO:0010179 isolated right ventricular hypoplasia skos:exactMatch Orphanet:439 Isolated right ventricular hypoplasia semapv:UnspecifiedMatching MONDO:0010179 isolated right ventricular hypoplasia skos:exactMatch SCTID:718135001 semapv:UnspecifiedMatching MONDO:0010179 isolated right ventricular hypoplasia skos:exactMatch UMLS:C1848587 semapv:UnspecifiedMatching MONDO:0010179 isolated right ventricular hypoplasia skos:exactMatch mesh:C535682 semapv:UnspecifiedMatching MONDO:0010180 autosomal recessive spondylocostal dysostosis skos:exactMatch Orphanet:2311 Autosomal recessive spondylocostal dysostosis semapv:UnspecifiedMatching MONDO:0010180 autosomal recessive spondylocostal dysostosis skos:exactMatch SCTID:61367005 semapv:UnspecifiedMatching MONDO:0010180 autosomal recessive spondylocostal dysostosis skos:exactMatch mesh:C535781 semapv:UnspecifiedMatching MONDO:0010181 oculogastrointestinal muscular dystrophy skos:exactMatch MEDGEN:336376 semapv:UnspecifiedMatching MONDO:0010181 oculogastrointestinal muscular dystrophy skos:exactMatch OMIM:277320 visceral myopathy, familial, with external ophthalmoplegia semapv:UnspecifiedMatching MONDO:0010181 oculogastrointestinal muscular dystrophy skos:exactMatch Orphanet:1876 Oculogastrointestinal muscular dystrophy semapv:UnspecifiedMatching MONDO:0010181 oculogastrointestinal muscular dystrophy skos:exactMatch SCTID:722060007 semapv:UnspecifiedMatching MONDO:0010181 oculogastrointestinal muscular dystrophy skos:exactMatch UMLS:C1848586 semapv:UnspecifiedMatching MONDO:0010181 oculogastrointestinal muscular dystrophy skos:exactMatch icd11.foundation:1205053137 Oculogastrointestinal muscular dystrophy semapv:UnspecifiedMatching MONDO:0010182 hypercarotenemia and vitamin A deficiency, autosomal recessive skos:exactMatch MEDGEN:395578 semapv:UnspecifiedMatching MONDO:0010182 hypercarotenemia and vitamin A deficiency, autosomal recessive skos:exactMatch OMIM:277350 hypercarotenemia and vitamin a deficiency, autosomal recessive semapv:UnspecifiedMatching MONDO:0010182 hypercarotenemia and vitamin A deficiency, autosomal recessive skos:exactMatch UMLS:C2678266 semapv:UnspecifiedMatching MONDO:0010182 hypercarotenemia and vitamin A deficiency, autosomal recessive skos:exactMatch mesh:C567486 semapv:UnspecifiedMatching MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF skos:exactMatch DOID:0050717 methylmalonic aciduria and homocystinuria type cblF semapv:UnspecifiedMatching MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF skos:exactMatch MEDGEN:336373 semapv:UnspecifiedMatching MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF skos:exactMatch OMIM:277380 methylmalonic aciduria and homocystinuria, cblF type semapv:UnspecifiedMatching MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF skos:exactMatch Orphanet:79284 Methylmalonic acidemia with homocystinuria type cblF semapv:UnspecifiedMatching MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF skos:exactMatch SCTID:80887004 semapv:UnspecifiedMatching MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF skos:exactMatch UMLS:C1848578 semapv:UnspecifiedMatching MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF skos:exactMatch mesh:C564747 semapv:UnspecifiedMatching MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC skos:exactMatch DOID:0050715 methylmalonic aciduria and homocystinuria type cblC semapv:UnspecifiedMatching MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC skos:exactMatch MEDGEN:341256 semapv:UnspecifiedMatching MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC skos:exactMatch NCIT:C142174 Methylmalonic Aciduria and Homocystinuria, cblC Type semapv:UnspecifiedMatching MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC skos:exactMatch OMIM:277400 methylmalonic aciduria and homocystinuria, cblc type semapv:UnspecifiedMatching MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC skos:exactMatch Orphanet:79282 Methylmalonic acidemia with homocystinuria, type cblC semapv:UnspecifiedMatching MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC skos:exactMatch SCTID:74653006 semapv:UnspecifiedMatching MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC skos:exactMatch UMLS:C1848561 semapv:UnspecifiedMatching MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:exactMatch DOID:0050716 methylmalonic aciduria and homocystinuria type cblD semapv:UnspecifiedMatching MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:exactMatch MEDGEN:341253 semapv:UnspecifiedMatching MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:exactMatch OMIM:277410 methylmalonic aciduria and homocystinuria, cbld type semapv:UnspecifiedMatching MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:exactMatch Orphanet:79283 Methylmalonic acidemia with homocystinuria, type cblD semapv:UnspecifiedMatching MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:exactMatch SCTID:31220004 semapv:UnspecifiedMatching MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:exactMatch UMLS:C1848552 semapv:UnspecifiedMatching MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:exactMatch mesh:C564743 semapv:UnspecifiedMatching MONDO:0010186 vitamin D-dependent rickets, type 2A skos:exactMatch DOID:0080884 vitamin D-dependent rickets type 2A semapv:UnspecifiedMatching MONDO:0010186 vitamin D-dependent rickets, type 2A skos:exactMatch MEDGEN:90989 semapv:UnspecifiedMatching MONDO:0010186 vitamin D-dependent rickets, type 2A skos:exactMatch NCIT:C131075 Vitamin D Dependent Rickets 2a semapv:UnspecifiedMatching MONDO:0010186 vitamin D-dependent rickets, type 2A skos:exactMatch OMIM:277440 vitamin d-dependent rickets, type 2a semapv:UnspecifiedMatching MONDO:0010186 vitamin D-dependent rickets, type 2A skos:exactMatch SCTID:237894002 semapv:UnspecifiedMatching MONDO:0010186 vitamin D-dependent rickets, type 2A skos:exactMatch UMLS:C0342646 semapv:UnspecifiedMatching MONDO:0010186 vitamin D-dependent rickets, type 2A skos:exactMatch mesh:C562794 semapv:UnspecifiedMatching MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 skos:exactMatch DOID:0112173 combined deficiency of vitamin K-dependent clotting factors 1 semapv:UnspecifiedMatching MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 skos:exactMatch MEDGEN:376381 semapv:UnspecifiedMatching MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 skos:exactMatch OMIM:277450 vitamin k-dependent clotting factors, combined deficiency of, 1 semapv:UnspecifiedMatching MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 skos:exactMatch SCTID:724356003 semapv:UnspecifiedMatching MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 skos:exactMatch UMLS:C1848534 semapv:UnspecifiedMatching MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 skos:exactMatch mesh:C564741 semapv:UnspecifiedMatching MONDO:0010188 familial isolated deficiency of vitamin E skos:exactMatch DOID:0090028 familial isolated deficiency of vitamin E semapv:UnspecifiedMatching MONDO:0010188 familial isolated deficiency of vitamin E skos:exactMatch MEDGEN:341248 semapv:UnspecifiedMatching MONDO:0010188 familial isolated deficiency of vitamin E skos:exactMatch OMIM:277460 ataxia with vitamin e deficiency semapv:UnspecifiedMatching MONDO:0010188 familial isolated deficiency of vitamin E skos:exactMatch Orphanet:96 Ataxia with vitamin E deficiency semapv:UnspecifiedMatching MONDO:0010188 familial isolated deficiency of vitamin E skos:exactMatch SCTID:702442008 semapv:UnspecifiedMatching MONDO:0010188 familial isolated deficiency of vitamin E skos:exactMatch UMLS:C1848533 semapv:UnspecifiedMatching MONDO:0010188 familial isolated deficiency of vitamin E skos:exactMatch mesh:C535393 semapv:UnspecifiedMatching MONDO:0010189 vitiligo, progressive, with intellectual disability and urethral duplication skos:exactMatch MEDGEN:336363 semapv:UnspecifiedMatching MONDO:0010189 vitiligo, progressive, with intellectual disability and urethral duplication skos:exactMatch OMIM:277465 vitiligo, progressive, with impaired intellectual development and urethral duplication semapv:UnspecifiedMatching MONDO:0010189 vitiligo, progressive, with intellectual disability and urethral duplication skos:exactMatch UMLS:C1848532 semapv:UnspecifiedMatching MONDO:0010189 vitiligo, progressive, with intellectual disability and urethral duplication skos:exactMatch mesh:C564739 semapv:UnspecifiedMatching MONDO:0010190 pontocerebellar hypoplasia type 2A skos:exactMatch DOID:0060267 pontocerebellar hypoplasia type 2A semapv:UnspecifiedMatching MONDO:0010190 pontocerebellar hypoplasia type 2A skos:exactMatch MEDGEN:376379 semapv:UnspecifiedMatching MONDO:0010190 pontocerebellar hypoplasia type 2A skos:exactMatch OMIM:277470 pontocerebellar hypoplasia, type 2a semapv:UnspecifiedMatching MONDO:0010190 pontocerebellar hypoplasia type 2A skos:exactMatch UMLS:C1848526 semapv:UnspecifiedMatching MONDO:0010190 pontocerebellar hypoplasia type 2A skos:exactMatch mesh:C564738 semapv:UnspecifiedMatching MONDO:0010191 von Willebrand disease 3 skos:exactMatch DOID:0111054 von Willebrand's disease 3 semapv:UnspecifiedMatching MONDO:0010191 von Willebrand disease 3 skos:exactMatch MEDGEN:266075 semapv:UnspecifiedMatching MONDO:0010191 von Willebrand disease 3 skos:exactMatch NCIT:C85213 von Willebrand Disease, Type 3 semapv:UnspecifiedMatching MONDO:0010191 von Willebrand disease 3 skos:exactMatch OMIM:277480 von willebrand disease, type 3 semapv:UnspecifiedMatching MONDO:0010191 von Willebrand disease 3 skos:exactMatch Orphanet:166096 Von Willebrand disease type 3 semapv:UnspecifiedMatching MONDO:0010191 von Willebrand disease 3 skos:exactMatch SCTID:128108002 semapv:UnspecifiedMatching MONDO:0010191 von Willebrand disease 3 skos:exactMatch UMLS:C1264041 semapv:UnspecifiedMatching MONDO:0010191 von Willebrand disease 3 skos:exactMatch mesh:D056729 semapv:UnspecifiedMatching MONDO:0010192 Waardenburg syndrome type 4A skos:exactMatch DOID:0110953 Waardenburg syndrome type 4A semapv:UnspecifiedMatching MONDO:0010192 Waardenburg syndrome type 4A skos:exactMatch MEDGEN:341244 semapv:UnspecifiedMatching MONDO:0010192 Waardenburg syndrome type 4A skos:exactMatch OMIM:277580 waardenburg syndrome, type 4a semapv:UnspecifiedMatching MONDO:0010192 Waardenburg syndrome type 4A skos:exactMatch UMLS:C1848519 semapv:UnspecifiedMatching MONDO:0010193 Weaver syndrome skos:exactMatch DOID:14731 Weaver syndrome semapv:UnspecifiedMatching MONDO:0010193 Weaver syndrome skos:exactMatch MEDGEN:120511 semapv:UnspecifiedMatching MONDO:0010193 Weaver syndrome skos:exactMatch NCIT:C125599 Weaver Syndrome semapv:UnspecifiedMatching MONDO:0010193 Weaver syndrome skos:exactMatch OMIM:277590 weaver syndrome semapv:UnspecifiedMatching MONDO:0010193 Weaver syndrome skos:exactMatch Orphanet:3447 Weaver syndrome semapv:UnspecifiedMatching MONDO:0010193 Weaver syndrome skos:exactMatch SCTID:63119004 semapv:UnspecifiedMatching MONDO:0010193 Weaver syndrome skos:exactMatch UMLS:C0265210 semapv:UnspecifiedMatching MONDO:0010193 Weaver syndrome skos:exactMatch icd11.foundation:2042913723 Weaver syndrome semapv:UnspecifiedMatching MONDO:0010193 Weaver syndrome skos:exactMatch mesh:C536687 semapv:UnspecifiedMatching MONDO:0010194 Weill-Marchesani syndrome 1 skos:exactMatch MEDGEN:1637058 semapv:UnspecifiedMatching MONDO:0010194 Weill-Marchesani syndrome 1 skos:exactMatch OMIM:277600 weill-marchesani syndrome 1 semapv:UnspecifiedMatching MONDO:0010194 Weill-Marchesani syndrome 1 skos:exactMatch UMLS:C4552002 semapv:UnspecifiedMatching MONDO:0010196 Werner syndrome skos:exactMatch DOID:5688 Werner syndrome semapv:UnspecifiedMatching MONDO:0010196 Werner syndrome skos:exactMatch MEDGEN:12147 semapv:UnspecifiedMatching MONDO:0010196 Werner syndrome skos:exactMatch NCIT:C3447 Werner Syndrome semapv:UnspecifiedMatching MONDO:0010196 Werner syndrome skos:exactMatch OMIM:277700 werner syndrome semapv:UnspecifiedMatching MONDO:0010196 Werner syndrome skos:exactMatch Orphanet:902 Werner syndrome semapv:UnspecifiedMatching MONDO:0010196 Werner syndrome skos:exactMatch SCTID:51626007 semapv:UnspecifiedMatching MONDO:0010196 Werner syndrome skos:exactMatch UMLS:C0043119 semapv:UnspecifiedMatching MONDO:0010196 Werner syndrome skos:exactMatch icd11.foundation:1864550134 Werner syndrome semapv:UnspecifiedMatching MONDO:0010196 Werner syndrome skos:exactMatch mesh:D014898 semapv:UnspecifiedMatching MONDO:0010197 whistling face syndrome, recessive form skos:exactMatch DOID:0111606 autosomal recessive Whistling face syndrome semapv:UnspecifiedMatching MONDO:0010197 whistling face syndrome, recessive form skos:exactMatch MEDGEN:376364 semapv:UnspecifiedMatching MONDO:0010197 whistling face syndrome, recessive form skos:exactMatch OMIM:277720 whistling face syndrome, recessive form semapv:UnspecifiedMatching MONDO:0010197 whistling face syndrome, recessive form skos:exactMatch UMLS:C1848470 semapv:UnspecifiedMatching MONDO:0010197 whistling face syndrome, recessive form skos:exactMatch mesh:C536699 semapv:UnspecifiedMatching MONDO:0010198 Wernicke-Korsakoff syndrome skos:exactMatch DOID:10915 Wernicke-Korsakoff syndrome semapv:UnspecifiedMatching MONDO:0010198 Wernicke-Korsakoff syndrome skos:exactMatch EFO:1001242 semapv:UnspecifiedMatching MONDO:0010198 Wernicke-Korsakoff syndrome skos:exactMatch MEDGEN:83883 semapv:UnspecifiedMatching MONDO:0010198 Wernicke-Korsakoff syndrome skos:exactMatch NCIT:C35764 Wernicke-Korsakoff Syndrome semapv:UnspecifiedMatching MONDO:0010198 Wernicke-Korsakoff syndrome skos:exactMatch OMIM:277730 wernicke-korsakoff syndrome semapv:UnspecifiedMatching MONDO:0010198 Wernicke-Korsakoff syndrome skos:exactMatch SCTID:69482004 semapv:UnspecifiedMatching MONDO:0010198 Wernicke-Korsakoff syndrome skos:exactMatch UMLS:C0349464 semapv:UnspecifiedMatching MONDO:0010198 Wernicke-Korsakoff syndrome skos:exactMatch icd11.foundation:2017611840 Wernicke-Korsakoff Syndrome semapv:UnspecifiedMatching MONDO:0010198 Wernicke-Korsakoff syndrome skos:exactMatch mesh:C538669 semapv:UnspecifiedMatching MONDO:0010199 white forelock with malformations skos:exactMatch MEDGEN:376362 semapv:UnspecifiedMatching MONDO:0010199 white forelock with malformations skos:exactMatch OMIM:277740 white forelock with malformations semapv:UnspecifiedMatching MONDO:0010199 white forelock with malformations skos:exactMatch Orphanet:2475 White forelock with malformations semapv:UnspecifiedMatching MONDO:0010199 white forelock with malformations skos:exactMatch SCTID:763619009 semapv:UnspecifiedMatching MONDO:0010199 white forelock with malformations skos:exactMatch UMLS:C1848463 semapv:UnspecifiedMatching MONDO:0010199 white forelock with malformations skos:exactMatch mesh:C536700 semapv:UnspecifiedMatching MONDO:0010200 Wilson disease skos:exactMatch DOID:893 Wilson disease semapv:UnspecifiedMatching MONDO:0010200 Wilson disease skos:exactMatch ICD10CM:E83.01 Wilson's disease semapv:UnspecifiedMatching MONDO:0010200 Wilson disease skos:exactMatch MEDGEN:42426 semapv:UnspecifiedMatching MONDO:0010200 Wilson disease skos:exactMatch NCIT:C84756 Hepatolenticular Degeneration semapv:UnspecifiedMatching MONDO:0010200 Wilson disease skos:exactMatch OMIM:277900 wilson disease semapv:UnspecifiedMatching MONDO:0010200 Wilson disease skos:exactMatch Orphanet:905 Wilson disease semapv:UnspecifiedMatching MONDO:0010200 Wilson disease skos:exactMatch SCTID:88518009 semapv:UnspecifiedMatching MONDO:0010200 Wilson disease skos:exactMatch UMLS:C0019202 semapv:UnspecifiedMatching MONDO:0010200 Wilson disease skos:exactMatch icd11.foundation:468161208 Wilson disease semapv:UnspecifiedMatching MONDO:0010200 Wilson disease skos:exactMatch mesh:D006527 semapv:UnspecifiedMatching MONDO:0010201 Winchester syndrome skos:exactMatch DOID:0080696 Winchester syndrome semapv:UnspecifiedMatching MONDO:0010201 Winchester syndrome skos:exactMatch MEDGEN:98152 semapv:UnspecifiedMatching MONDO:0010201 Winchester syndrome skos:exactMatch NCIT:C170731 Winchester Syndrome semapv:UnspecifiedMatching MONDO:0010201 Winchester syndrome skos:exactMatch OMIM:277950 winchester syndrome semapv:UnspecifiedMatching MONDO:0010201 Winchester syndrome skos:exactMatch SCTID:254151006 semapv:UnspecifiedMatching MONDO:0010201 Winchester syndrome skos:exactMatch UMLS:C0432289 semapv:UnspecifiedMatching MONDO:0010201 Winchester syndrome skos:exactMatch mesh:C536709 semapv:UnspecifiedMatching MONDO:0010203 intellectual disability, Wolff type skos:exactMatch MEDGEN:336345 semapv:UnspecifiedMatching MONDO:0010203 intellectual disability, Wolff type skos:exactMatch OMIM:277990 wolff syndrome semapv:UnspecifiedMatching MONDO:0010203 intellectual disability, Wolff type skos:exactMatch Orphanet:3080 Intellectual disability, Wolff type semapv:UnspecifiedMatching MONDO:0010203 intellectual disability, Wolff type skos:exactMatch UMLS:C1848439 semapv:UnspecifiedMatching MONDO:0010203 intellectual disability, Wolff type skos:exactMatch mesh:C537448 semapv:UnspecifiedMatching MONDO:0010206 hypotrichosis 8 skos:exactMatch DOID:0110705 hypotrichosis 8 semapv:UnspecifiedMatching MONDO:0010206 hypotrichosis 8 skos:exactMatch MEDGEN:481100 semapv:UnspecifiedMatching MONDO:0010206 hypotrichosis 8 skos:exactMatch OMIM:278150 hypotrichosis 8 semapv:UnspecifiedMatching MONDO:0010206 hypotrichosis 8 skos:exactMatch UMLS:C3279470 semapv:UnspecifiedMatching MONDO:0010206 hypotrichosis 8 skos:exactMatch mesh:C566950 semapv:UnspecifiedMatching MONDO:0010207 wooly hair-hypotrichosis-everted lower lip-outstanding ears syndrome skos:exactMatch MEDGEN:98033 semapv:UnspecifiedMatching MONDO:0010207 wooly hair-hypotrichosis-everted lower lip-outstanding ears syndrome skos:exactMatch OMIM:278200 woolly hair, hypotrichosis, everted lower lip, and outstanding ears semapv:UnspecifiedMatching MONDO:0010207 wooly hair-hypotrichosis-everted lower lip-outstanding ears syndrome skos:exactMatch SCTID:239023005 semapv:UnspecifiedMatching MONDO:0010207 wooly hair-hypotrichosis-everted lower lip-outstanding ears syndrome skos:exactMatch UMLS:C0406718 semapv:UnspecifiedMatching MONDO:0010207 wooly hair-hypotrichosis-everted lower lip-outstanding ears syndrome skos:exactMatch mesh:C536746 semapv:UnspecifiedMatching MONDO:0010208 wrinkly skin syndrome skos:exactMatch DOID:0112171 wrinkly skin syndrome semapv:UnspecifiedMatching MONDO:0010208 wrinkly skin syndrome skos:exactMatch MEDGEN:98030 semapv:UnspecifiedMatching MONDO:0010208 wrinkly skin syndrome skos:exactMatch OMIM:278250 wrinkly skin syndrome semapv:UnspecifiedMatching MONDO:0010208 wrinkly skin syndrome skos:exactMatch Orphanet:2834 Wrinkly skin syndrome semapv:UnspecifiedMatching MONDO:0010208 wrinkly skin syndrome skos:exactMatch SCTID:238875009 semapv:UnspecifiedMatching MONDO:0010208 wrinkly skin syndrome skos:exactMatch UMLS:C0406587 semapv:UnspecifiedMatching MONDO:0010208 wrinkly skin syndrome skos:exactMatch icd11.foundation:638767040 Wrinkly skin syndrome semapv:UnspecifiedMatching MONDO:0010208 wrinkly skin syndrome skos:exactMatch mesh:C536750 semapv:UnspecifiedMatching MONDO:0010209 xanthinuria type I skos:exactMatch DOID:0070452 xanthinuria type I semapv:UnspecifiedMatching MONDO:0010209 xanthinuria type I skos:exactMatch MEDGEN:82771 semapv:UnspecifiedMatching MONDO:0010209 xanthinuria type I skos:exactMatch OMIM:278300 xanthinuria, type 1 semapv:UnspecifiedMatching MONDO:0010209 xanthinuria type I skos:exactMatch Orphanet:93601 Xanthinuria type I semapv:UnspecifiedMatching MONDO:0010209 xanthinuria type I skos:exactMatch SCTID:72682008 semapv:UnspecifiedMatching MONDO:0010209 xanthinuria type I skos:exactMatch UMLS:C0268118 semapv:UnspecifiedMatching MONDO:0010209 xanthinuria type I skos:exactMatch mesh:C562584 semapv:UnspecifiedMatching MONDO:0010210 xeroderma pigmentosum group A skos:exactMatch DOID:0110843 xeroderma pigmentosum group A semapv:UnspecifiedMatching MONDO:0010210 xeroderma pigmentosum group A skos:exactMatch MEDGEN:82775 semapv:UnspecifiedMatching MONDO:0010210 xeroderma pigmentosum group A skos:exactMatch NCIT:C3965 Xeroderma Pigmentosum, Complementation Group A semapv:UnspecifiedMatching MONDO:0010210 xeroderma pigmentosum group A skos:exactMatch OMIM:278700 xeroderma pigmentosum, complementation group a semapv:UnspecifiedMatching MONDO:0010210 xeroderma pigmentosum group A skos:exactMatch SCTID:43477006 semapv:UnspecifiedMatching MONDO:0010210 xeroderma pigmentosum group A skos:exactMatch UMLS:C0268135 semapv:UnspecifiedMatching MONDO:0010211 xeroderma pigmentosum group C skos:exactMatch DOID:0110844 xeroderma pigmentosum group C semapv:UnspecifiedMatching MONDO:0010211 xeroderma pigmentosum group C skos:exactMatch MEDGEN:416702 semapv:UnspecifiedMatching MONDO:0010211 xeroderma pigmentosum group C skos:exactMatch NCIT:C114770 Xeroderma Pigmentosum, Complementation Group C semapv:UnspecifiedMatching MONDO:0010211 xeroderma pigmentosum group C skos:exactMatch OMIM:278720 xeroderma pigmentosum, complementation group c semapv:UnspecifiedMatching MONDO:0010211 xeroderma pigmentosum group C skos:exactMatch SCTID:25784009 semapv:UnspecifiedMatching MONDO:0010211 xeroderma pigmentosum group C skos:exactMatch UMLS:C2752147 semapv:UnspecifiedMatching MONDO:0010211 xeroderma pigmentosum group C skos:exactMatch mesh:C567886 semapv:UnspecifiedMatching MONDO:0010212 xeroderma pigmentosum group D skos:exactMatch DOID:0110845 xeroderma pigmentosum group D semapv:UnspecifiedMatching MONDO:0010212 xeroderma pigmentosum group D skos:exactMatch MEDGEN:75656 semapv:UnspecifiedMatching MONDO:0010212 xeroderma pigmentosum group D skos:exactMatch NCIT:C3967 Xeroderma Pigmentosum, Complementation Group D semapv:UnspecifiedMatching MONDO:0010212 xeroderma pigmentosum group D skos:exactMatch OMIM:278730 xeroderma pigmentosum, complementation group d semapv:UnspecifiedMatching MONDO:0010212 xeroderma pigmentosum group D skos:exactMatch SCTID:68637004 semapv:UnspecifiedMatching MONDO:0010212 xeroderma pigmentosum group D skos:exactMatch UMLS:C0268138 semapv:UnspecifiedMatching MONDO:0010212 xeroderma pigmentosum group D skos:exactMatch mesh:C562591 semapv:UnspecifiedMatching MONDO:0010213 xeroderma pigmentosum group E skos:exactMatch DOID:0110846 xeroderma pigmentosum group E semapv:UnspecifiedMatching MONDO:0010213 xeroderma pigmentosum group E skos:exactMatch MEDGEN:341219 semapv:UnspecifiedMatching MONDO:0010213 xeroderma pigmentosum group E skos:exactMatch NCIT:C114771 Xeroderma Pigmentosum, Complementation Group E semapv:UnspecifiedMatching MONDO:0010213 xeroderma pigmentosum group E skos:exactMatch OMIM:278740 xeroderma pigmentosum, complementation group e semapv:UnspecifiedMatching MONDO:0010213 xeroderma pigmentosum group E skos:exactMatch SCTID:56048001 semapv:UnspecifiedMatching MONDO:0010213 xeroderma pigmentosum group E skos:exactMatch UMLS:C1848411 semapv:UnspecifiedMatching MONDO:0010213 xeroderma pigmentosum group E skos:exactMatch mesh:C564732 semapv:UnspecifiedMatching MONDO:0010214 xeroderma pigmentosum variant type skos:exactMatch DOID:0110847 xeroderma pigmentosum variant type semapv:UnspecifiedMatching MONDO:0010214 xeroderma pigmentosum variant type skos:exactMatch MEDGEN:376352 semapv:UnspecifiedMatching MONDO:0010214 xeroderma pigmentosum variant type skos:exactMatch NCIT:C141367 Xeroderma Pigmentosum Variant Type semapv:UnspecifiedMatching MONDO:0010214 xeroderma pigmentosum variant type skos:exactMatch OMIM:278750 xeroderma pigmentosum, variant type semapv:UnspecifiedMatching MONDO:0010214 xeroderma pigmentosum variant type skos:exactMatch Orphanet:90342 Xeroderma pigmentosum variant semapv:UnspecifiedMatching MONDO:0010214 xeroderma pigmentosum variant type skos:exactMatch UMLS:C1848410 semapv:UnspecifiedMatching MONDO:0010214 xeroderma pigmentosum variant type skos:exactMatch mesh:C536766 semapv:UnspecifiedMatching MONDO:0010215 xeroderma pigmentosum group F skos:exactMatch DOID:0110848 xeroderma pigmentosum group F semapv:UnspecifiedMatching MONDO:0010215 xeroderma pigmentosum group F skos:exactMatch MEDGEN:120612 semapv:UnspecifiedMatching MONDO:0010215 xeroderma pigmentosum group F skos:exactMatch NCIT:C3968 Xeroderma Pigmentosum, Complementation Group F semapv:UnspecifiedMatching MONDO:0010215 xeroderma pigmentosum group F skos:exactMatch OMIM:278760 xeroderma pigmentosum, complementation group f semapv:UnspecifiedMatching MONDO:0010215 xeroderma pigmentosum group F skos:exactMatch SCTID:42530008 semapv:UnspecifiedMatching MONDO:0010215 xeroderma pigmentosum group F skos:exactMatch UMLS:C0268140 semapv:UnspecifiedMatching MONDO:0010215 xeroderma pigmentosum group F skos:exactMatch mesh:C562592 semapv:UnspecifiedMatching MONDO:0010216 xeroderma pigmentosum group G skos:exactMatch DOID:0110849 xeroderma pigmentosum group G semapv:UnspecifiedMatching MONDO:0010216 xeroderma pigmentosum group G skos:exactMatch MEDGEN:75657 semapv:UnspecifiedMatching MONDO:0010216 xeroderma pigmentosum group G skos:exactMatch NCIT:C3969 Xeroderma Pigmentosum, Complementation Group G semapv:UnspecifiedMatching MONDO:0010216 xeroderma pigmentosum group G skos:exactMatch OMIM:278780 xeroderma pigmentosum, complementation group g semapv:UnspecifiedMatching MONDO:0010216 xeroderma pigmentosum group G skos:exactMatch SCTID:36454001 semapv:UnspecifiedMatching MONDO:0010216 xeroderma pigmentosum group G skos:exactMatch UMLS:C0268141 semapv:UnspecifiedMatching MONDO:0010216 xeroderma pigmentosum group G skos:exactMatch mesh:C562593 semapv:UnspecifiedMatching MONDO:0010217 de Sanctis-Cacchione syndrome skos:exactMatch DOID:0112158 De Sanctis-Cacchione syndrome semapv:UnspecifiedMatching MONDO:0010217 de Sanctis-Cacchione syndrome skos:exactMatch MEDGEN:75550 semapv:UnspecifiedMatching MONDO:0010217 de Sanctis-Cacchione syndrome skos:exactMatch NCIT:C84666 De Sanctis-Cacchione Syndrome semapv:UnspecifiedMatching MONDO:0010217 de Sanctis-Cacchione syndrome skos:exactMatch OMIM:278800 lange sanctis-cacchione syndrome semapv:UnspecifiedMatching MONDO:0010217 de Sanctis-Cacchione syndrome skos:exactMatch SCTID:414673004 semapv:UnspecifiedMatching MONDO:0010217 de Sanctis-Cacchione syndrome skos:exactMatch UMLS:C0265201 semapv:UnspecifiedMatching MONDO:0010217 de Sanctis-Cacchione syndrome skos:exactMatch icd11.foundation:594988031 De Sanctis-Cacchione syndrome semapv:UnspecifiedMatching MONDO:0010217 de Sanctis-Cacchione syndrome skos:exactMatch mesh:C535992 semapv:UnspecifiedMatching MONDO:0010218 46,XX sex reversal 2 skos:exactMatch DOID:0111763 46,XX sex reversal 2 semapv:UnspecifiedMatching MONDO:0010218 46,XX sex reversal 2 skos:exactMatch MEDGEN:411414 semapv:UnspecifiedMatching MONDO:0010218 46,XX sex reversal 2 skos:exactMatch OMIM:278850 46,xx sex reversal 2 semapv:UnspecifiedMatching MONDO:0010218 46,XX sex reversal 2 skos:exactMatch UMLS:C2749215 semapv:UnspecifiedMatching MONDO:0010219 xylosidase deficiency skos:exactMatch MEDGEN:336338 semapv:UnspecifiedMatching MONDO:0010219 xylosidase deficiency skos:exactMatch OMIM:278900 xylosidase deficiency semapv:UnspecifiedMatching MONDO:0010219 xylosidase deficiency skos:exactMatch UMLS:C1848407 semapv:UnspecifiedMatching MONDO:0010219 xylosidase deficiency skos:exactMatch mesh:C564730 semapv:UnspecifiedMatching MONDO:0010220 Young syndrome skos:exactMatch DOID:0061226 semapv:UnspecifiedMatching MONDO:0010220 Young syndrome skos:exactMatch MEDGEN:137934 semapv:UnspecifiedMatching MONDO:0010220 Young syndrome skos:exactMatch OMIM:279000 ciliary dyskinesia, primary, 55 semapv:UnspecifiedMatching MONDO:0010220 Young syndrome skos:exactMatch Orphanet:3471 Young syndrome semapv:UnspecifiedMatching MONDO:0010220 Young syndrome skos:exactMatch SCTID:233666007 semapv:UnspecifiedMatching MONDO:0010220 Young syndrome skos:exactMatch UMLS:C0340037 semapv:UnspecifiedMatching MONDO:0010220 Young syndrome skos:exactMatch icd11.foundation:1628320490 Young syndrome semapv:UnspecifiedMatching MONDO:0010220 Young syndrome skos:exactMatch mesh:C536718 semapv:UnspecifiedMatching MONDO:0010221 CHIME syndrome skos:exactMatch DOID:0112152 CHIME syndrome semapv:UnspecifiedMatching MONDO:0010221 CHIME syndrome skos:exactMatch MEDGEN:341214 semapv:UnspecifiedMatching MONDO:0010221 CHIME syndrome skos:exactMatch OMIM:280000 coloboma, congenital heart disease, ichthyosiform dermatosis, impaired intellectual development, and ear anomalies syndrome semapv:UnspecifiedMatching MONDO:0010221 CHIME syndrome skos:exactMatch Orphanet:3474 CHIME syndrome semapv:UnspecifiedMatching MONDO:0010221 CHIME syndrome skos:exactMatch SCTID:720639008 semapv:UnspecifiedMatching MONDO:0010221 CHIME syndrome skos:exactMatch UMLS:C1848392 semapv:UnspecifiedMatching MONDO:0010221 CHIME syndrome skos:exactMatch mesh:C536729 semapv:UnspecifiedMatching MONDO:0010222 X-linked Opitz G/BBB syndrome skos:exactMatch MEDGEN:424842 semapv:UnspecifiedMatching MONDO:0010222 X-linked Opitz G/BBB syndrome skos:exactMatch OMIM:300000 opitz GBBB syndrome semapv:UnspecifiedMatching MONDO:0010222 X-linked Opitz G/BBB syndrome skos:exactMatch UMLS:C2936904 semapv:UnspecifiedMatching MONDO:0010223 ichthyosis, X-linked, without steroid sulfatase deficiency skos:exactMatch MEDGEN:341213 semapv:UnspecifiedMatching MONDO:0010223 ichthyosis, X-linked, without steroid sulfatase deficiency skos:exactMatch OMIM:300001 ichthyosis, x-linked, without steroid sulfatase deficiency semapv:UnspecifiedMatching MONDO:0010223 ichthyosis, X-linked, without steroid sulfatase deficiency skos:exactMatch UMLS:C1848387 semapv:UnspecifiedMatching MONDO:0010223 ichthyosis, X-linked, without steroid sulfatase deficiency skos:exactMatch mesh:C564729 semapv:UnspecifiedMatching MONDO:0010224 corpus callosum agenesis-abnormal genitalia syndrome skos:exactMatch DOID:0112151 corpus callosum agenesis-abnormal genitalia syndrome semapv:UnspecifiedMatching MONDO:0010224 corpus callosum agenesis-abnormal genitalia syndrome skos:exactMatch MEDGEN:163217 semapv:UnspecifiedMatching MONDO:0010224 corpus callosum agenesis-abnormal genitalia syndrome skos:exactMatch OMIM:300004 corpus callosum, agenesis of, with abnormal genitalia semapv:UnspecifiedMatching MONDO:0010224 corpus callosum agenesis-abnormal genitalia syndrome skos:exactMatch Orphanet:2508 Corpus callosum agenesis-abnormal genitalia syndrome semapv:UnspecifiedMatching MONDO:0010224 corpus callosum agenesis-abnormal genitalia syndrome skos:exactMatch SCTID:763797003 semapv:UnspecifiedMatching MONDO:0010224 corpus callosum agenesis-abnormal genitalia syndrome skos:exactMatch UMLS:C0796124 semapv:UnspecifiedMatching MONDO:0010224 corpus callosum agenesis-abnormal genitalia syndrome skos:exactMatch mesh:C563110 semapv:UnspecifiedMatching MONDO:0010225 Dent disease type 1 skos:exactMatch DOID:0081453 Dent disease 1 semapv:UnspecifiedMatching MONDO:0010225 Dent disease type 1 skos:exactMatch MEDGEN:336322 semapv:UnspecifiedMatching MONDO:0010225 Dent disease type 1 skos:exactMatch OMIM:300009 dent disease 1 semapv:UnspecifiedMatching MONDO:0010225 Dent disease type 1 skos:exactMatch Orphanet:93622 Dent disease type 1 semapv:UnspecifiedMatching MONDO:0010225 Dent disease type 1 skos:exactMatch SCTID:717789008 semapv:UnspecifiedMatching MONDO:0010225 Dent disease type 1 skos:exactMatch UMLS:C1848336 semapv:UnspecifiedMatching MONDO:0010225 Dent disease type 1 skos:exactMatch icd11.foundation:1984074789 Dent disease type 1 semapv:UnspecifiedMatching MONDO:0010226 46,XY sex reversal 2 skos:exactMatch DOID:0111777 46,XY sex reversal 2 semapv:UnspecifiedMatching MONDO:0010226 46,XY sex reversal 2 skos:exactMatch MEDGEN:341190 semapv:UnspecifiedMatching MONDO:0010226 46,XY sex reversal 2 skos:exactMatch OMIM:300018 46,xy sex reversal 2 semapv:UnspecifiedMatching MONDO:0010226 46,XY sex reversal 2 skos:exactMatch UMLS:C1848296 semapv:UnspecifiedMatching MONDO:0010226 46,XY sex reversal 2 skos:exactMatch mesh:C535601 semapv:UnspecifiedMatching MONDO:0010227 retinitis pigmentosa 3 skos:exactMatch DOID:0110414 retinitis pigmentosa 3 semapv:UnspecifiedMatching MONDO:0010227 retinitis pigmentosa 3 skos:exactMatch MEDGEN:336999 semapv:UnspecifiedMatching MONDO:0010227 retinitis pigmentosa 3 skos:exactMatch OMIM:300029 retinitis pigmentosa 3 semapv:UnspecifiedMatching MONDO:0010227 retinitis pigmentosa 3 skos:exactMatch UMLS:C1845667 semapv:UnspecifiedMatching MONDO:0010227 retinitis pigmentosa 3 skos:exactMatch mesh:C564520 semapv:UnspecifiedMatching MONDO:0010228 hearing loss, X-linked 3 skos:exactMatch DOID:0111736 X-linked deafness 3 semapv:UnspecifiedMatching MONDO:0010228 hearing loss, X-linked 3 skos:exactMatch MEDGEN:854758 semapv:UnspecifiedMatching MONDO:0010228 hearing loss, X-linked 3 skos:exactMatch OMIM:300030 deafness, X-linked 3 semapv:UnspecifiedMatching MONDO:0010228 hearing loss, X-linked 3 skos:exactMatch UMLS:C3888089 semapv:UnspecifiedMatching MONDO:0010228 hearing loss, X-linked 3 skos:exactMatch mesh:C564727 semapv:UnspecifiedMatching MONDO:0010229 alopecia, congenital skos:exactMatch ICD10CM:Q84.0 Congenital alopecia semapv:UnspecifiedMatching MONDO:0010229 alopecia, congenital skos:exactMatch MEDGEN:78581 semapv:UnspecifiedMatching MONDO:0010229 alopecia, congenital skos:exactMatch NCIT:C35790 Congenital Alopecia semapv:UnspecifiedMatching MONDO:0010229 alopecia, congenital skos:exactMatch OMIM:300042 alopecia, congenital semapv:UnspecifiedMatching MONDO:0010229 alopecia, congenital skos:exactMatch SCTID:2965006 semapv:UnspecifiedMatching MONDO:0010229 alopecia, congenital skos:exactMatch UMLS:C0265992 semapv:UnspecifiedMatching MONDO:0010229 alopecia, congenital skos:exactMatch mesh:C535981 semapv:UnspecifiedMatching MONDO:0010230 intellectual disability, X-linked 23 skos:exactMatch DOID:0112049 non-syndromic X-linked intellectual disability 23 semapv:UnspecifiedMatching MONDO:0010230 intellectual disability, X-linked 23 skos:exactMatch MEDGEN:163234 semapv:UnspecifiedMatching MONDO:0010230 intellectual disability, X-linked 23 skos:exactMatch OMIM:300046 intellectual developmental disorder, X-linked 23 semapv:UnspecifiedMatching MONDO:0010230 intellectual disability, X-linked 23 skos:exactMatch UMLS:C0796229 semapv:UnspecifiedMatching MONDO:0010230 intellectual disability, X-linked 23 skos:exactMatch mesh:C563144 semapv:UnspecifiedMatching MONDO:0010231 intellectual disability, X-linked 20 skos:exactMatch DOID:0112023 non-syndromic X-linked intellectual disability 20 semapv:UnspecifiedMatching MONDO:0010231 intellectual disability, X-linked 20 skos:exactMatch MEDGEN:208677 semapv:UnspecifiedMatching MONDO:0010231 intellectual disability, X-linked 20 skos:exactMatch OMIM:300047 intellectual developmental disorder, X-linked 20 semapv:UnspecifiedMatching MONDO:0010231 intellectual disability, X-linked 20 skos:exactMatch UMLS:C0796226 semapv:UnspecifiedMatching MONDO:0010231 intellectual disability, X-linked 20 skos:exactMatch mesh:C563142 semapv:UnspecifiedMatching MONDO:0010232 intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked skos:exactMatch DOID:0080681 X-linked chronic idiopathic intestinal pseudo-obstruction semapv:UnspecifiedMatching MONDO:0010232 intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked skos:exactMatch MEDGEN:412536 semapv:UnspecifiedMatching MONDO:0010232 intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked skos:exactMatch OMIM:300048 intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked semapv:UnspecifiedMatching MONDO:0010232 intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked skos:exactMatch UMLS:C2746068 semapv:UnspecifiedMatching MONDO:0010232 intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked skos:exactMatch mesh:C535532 semapv:UnspecifiedMatching MONDO:0010233 heterotopia, periventricular, X-linked dominant skos:exactMatch MEDGEN:376309 semapv:UnspecifiedMatching MONDO:0010233 heterotopia, periventricular, X-linked dominant skos:exactMatch OMIM:300049 periventricular nodular heterotopia 1 semapv:UnspecifiedMatching MONDO:0010233 heterotopia, periventricular, X-linked dominant skos:exactMatch SCTID:448227009 semapv:UnspecifiedMatching MONDO:0010233 heterotopia, periventricular, X-linked dominant skos:exactMatch UMLS:C1848213 semapv:UnspecifiedMatching MONDO:0010235 X-linked intellectual disability-psychosis-macroorchidism syndrome skos:exactMatch DOID:0060827 X-linked intellectual disability-psychosis-macroorchidism syndrome semapv:UnspecifiedMatching MONDO:0010235 X-linked intellectual disability-psychosis-macroorchidism syndrome skos:exactMatch MEDGEN:163232 semapv:UnspecifiedMatching MONDO:0010235 X-linked intellectual disability-psychosis-macroorchidism syndrome skos:exactMatch OMIM:300055 intellectual developmental disorder, x-linked, syndromic 13 semapv:UnspecifiedMatching MONDO:0010235 X-linked intellectual disability-psychosis-macroorchidism syndrome skos:exactMatch Orphanet:3077 X-linked intellectual disability-psychosis-macroorchidism syndrome semapv:UnspecifiedMatching MONDO:0010235 X-linked intellectual disability-psychosis-macroorchidism syndrome skos:exactMatch SCTID:702356009 semapv:UnspecifiedMatching MONDO:0010235 X-linked intellectual disability-psychosis-macroorchidism syndrome skos:exactMatch UMLS:C0796222 semapv:UnspecifiedMatching MONDO:0010236 intellectual disability, X-linked 14 skos:exactMatch DOID:0112027 non-syndromic X-linked intellectual disability 14 semapv:UnspecifiedMatching MONDO:0010236 intellectual disability, X-linked 14 skos:exactMatch MEDGEN:163231 semapv:UnspecifiedMatching MONDO:0010236 intellectual disability, X-linked 14 skos:exactMatch OMIM:300062 intellectual developmental disorder, X-linked 14 semapv:UnspecifiedMatching MONDO:0010236 intellectual disability, X-linked 14 skos:exactMatch UMLS:C0796220 semapv:UnspecifiedMatching MONDO:0010236 intellectual disability, X-linked 14 skos:exactMatch mesh:C537454 semapv:UnspecifiedMatching MONDO:0010237 X-linked intellectual disability-plagiocephaly syndrome skos:exactMatch MEDGEN:419824 semapv:UnspecifiedMatching MONDO:0010237 X-linked intellectual disability-plagiocephaly syndrome skos:exactMatch OMIM:300064 hyde-forster syndrome semapv:UnspecifiedMatching MONDO:0010237 X-linked intellectual disability-plagiocephaly syndrome skos:exactMatch Orphanet:2898 X-linked intellectual disability-plagiocephaly syndrome semapv:UnspecifiedMatching MONDO:0010237 X-linked intellectual disability-plagiocephaly syndrome skos:exactMatch SCTID:719812008 semapv:UnspecifiedMatching MONDO:0010237 X-linked intellectual disability-plagiocephaly syndrome skos:exactMatch UMLS:C2931516 semapv:UnspecifiedMatching MONDO:0010237 X-linked intellectual disability-plagiocephaly syndrome skos:exactMatch mesh:C537512 semapv:UnspecifiedMatching MONDO:0010238 hearing loss, X-linked 4 skos:exactMatch DOID:0111735 X-linked deafness 4 semapv:UnspecifiedMatching MONDO:0010238 hearing loss, X-linked 4 skos:exactMatch MEDGEN:376307 semapv:UnspecifiedMatching MONDO:0010238 hearing loss, X-linked 4 skos:exactMatch OMIM:300066 deafness, X-linked 4 semapv:UnspecifiedMatching MONDO:0010238 hearing loss, X-linked 4 skos:exactMatch UMLS:C1848204 semapv:UnspecifiedMatching MONDO:0010238 hearing loss, X-linked 4 skos:exactMatch mesh:C564723 semapv:UnspecifiedMatching MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation skos:exactMatch DOID:0112239 X-linked lissencephaly 1 semapv:UnspecifiedMatching MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation skos:exactMatch MEDGEN:1644310 semapv:UnspecifiedMatching MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation skos:exactMatch OMIM:300067 lissencephaly, x-linked, 1 semapv:UnspecifiedMatching MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation skos:exactMatch Orphanet:2148 Lissencephaly type 1 due to doublecortin gene mutation semapv:UnspecifiedMatching MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation skos:exactMatch SCTID:715780008 semapv:UnspecifiedMatching MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation skos:exactMatch UMLS:C4551968 semapv:UnspecifiedMatching MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation skos:exactMatch icd11.foundation:891064255 Lissencephaly type 1 due to doublecortin gene mutation semapv:UnspecifiedMatching MONDO:0010241 congenital stationary night blindness 2A skos:exactMatch DOID:0110871 congenital stationary night blindness 2A semapv:UnspecifiedMatching MONDO:0010241 congenital stationary night blindness 2A skos:exactMatch MEDGEN:376299 semapv:UnspecifiedMatching MONDO:0010241 congenital stationary night blindness 2A skos:exactMatch OMIM:300071 night blindness, congenital stationary, type 2a semapv:UnspecifiedMatching MONDO:0010241 congenital stationary night blindness 2A skos:exactMatch UMLS:C1848172 semapv:UnspecifiedMatching MONDO:0010242 fetal akinesia syndrome, X-linked skos:exactMatch DOID:0081043 fetal akinesia deformation sequence syndrome X-linked semapv:UnspecifiedMatching MONDO:0010242 fetal akinesia syndrome, X-linked skos:exactMatch MEDGEN:341166 semapv:UnspecifiedMatching MONDO:0010242 fetal akinesia syndrome, X-linked skos:exactMatch OMIM:300073 fetal akinesia syndrome, X-linked semapv:UnspecifiedMatching MONDO:0010242 fetal akinesia syndrome, X-linked skos:exactMatch UMLS:C1848171 semapv:UnspecifiedMatching MONDO:0010242 fetal akinesia syndrome, X-linked skos:exactMatch mesh:C537921 semapv:UnspecifiedMatching MONDO:0010243 X-linked immunoneurologic disorder skos:exactMatch MEDGEN:341162 semapv:UnspecifiedMatching MONDO:0010243 X-linked immunoneurologic disorder skos:exactMatch OMIM:300076 immunoneurologic disorder, X-linked semapv:UnspecifiedMatching MONDO:0010243 X-linked immunoneurologic disorder skos:exactMatch Orphanet:2571 X-linked immunoneurologic disorder semapv:UnspecifiedMatching MONDO:0010243 X-linked immunoneurologic disorder skos:exactMatch SCTID:719827008 semapv:UnspecifiedMatching MONDO:0010243 X-linked immunoneurologic disorder skos:exactMatch UMLS:C1848144 semapv:UnspecifiedMatching MONDO:0010243 X-linked immunoneurologic disorder skos:exactMatch icd11.foundation:1464555617 X-linked immunoneurologic disorder semapv:UnspecifiedMatching MONDO:0010243 X-linked immunoneurologic disorder skos:exactMatch mesh:C536743 semapv:UnspecifiedMatching MONDO:0010244 CGF1 skos:exactMatch MEDGEN:338395 semapv:UnspecifiedMatching MONDO:0010244 CGF1 skos:exactMatch OMIM:300082 cognitive function 1, social semapv:UnspecifiedMatching MONDO:0010244 CGF1 skos:exactMatch UMLS:C1848140 semapv:UnspecifiedMatching MONDO:0010245 X-linked cone-rod dystrophy 2 skos:exactMatch DOID:0111006 X-linked cone-rod dystrophy 2 semapv:UnspecifiedMatching MONDO:0010245 X-linked cone-rod dystrophy 2 skos:exactMatch MEDGEN:341161 semapv:UnspecifiedMatching MONDO:0010245 X-linked cone-rod dystrophy 2 skos:exactMatch OMIM:300085 cone-rod dystrophy, x-linked, 2 semapv:UnspecifiedMatching MONDO:0010245 X-linked cone-rod dystrophy 2 skos:exactMatch UMLS:C1848139 semapv:UnspecifiedMatching MONDO:0010245 X-linked cone-rod dystrophy 2 skos:exactMatch mesh:C564717 semapv:UnspecifiedMatching MONDO:0010246 developmental and epileptic encephalopathy, 9 skos:exactMatch DOID:0060848 developmental and epileptic encephalopathy 9 semapv:UnspecifiedMatching MONDO:0010246 developmental and epileptic encephalopathy, 9 skos:exactMatch MEDGEN:338393 semapv:UnspecifiedMatching MONDO:0010246 developmental and epileptic encephalopathy, 9 skos:exactMatch OMIM:300088 developmental and epileptic encephalopathy 9 semapv:UnspecifiedMatching MONDO:0010246 developmental and epileptic encephalopathy, 9 skos:exactMatch Orphanet:101039 Female restricted epilepsy with intellectual disability semapv:UnspecifiedMatching MONDO:0010246 developmental and epileptic encephalopathy, 9 skos:exactMatch UMLS:C1848137 semapv:UnspecifiedMatching MONDO:0010246 developmental and epileptic encephalopathy, 9 skos:exactMatch mesh:C564715 semapv:UnspecifiedMatching MONDO:0010247 X-linked cerebral adrenoleukodystrophy skos:exactMatch MEDGEN:1708324 semapv:UnspecifiedMatching MONDO:0010247 X-linked cerebral adrenoleukodystrophy skos:exactMatch Orphanet:139396 X-linked cerebral adrenoleukodystrophy semapv:UnspecifiedMatching MONDO:0010247 X-linked cerebral adrenoleukodystrophy skos:exactMatch UMLS:C2026514 semapv:UnspecifiedMatching MONDO:0010247 X-linked cerebral adrenoleukodystrophy skos:exactMatch icd11.foundation:1105019687 X-linked cerebral adrenoleukodystrophy semapv:UnspecifiedMatching MONDO:0010248 X-linked spondyloepimetaphyseal dysplasia skos:exactMatch DOID:0112150 X-linked spondyloepimetaphyseal dysplasia semapv:UnspecifiedMatching MONDO:0010248 X-linked spondyloepimetaphyseal dysplasia skos:exactMatch MEDGEN:376281 semapv:UnspecifiedMatching MONDO:0010248 X-linked spondyloepimetaphyseal dysplasia skos:exactMatch OMIM:300106 spondyloepimetaphyseal dysplasia, X-linked semapv:UnspecifiedMatching MONDO:0010248 X-linked spondyloepimetaphyseal dysplasia skos:exactMatch Orphanet:93349 X-linked spondyloepimetaphyseal dysplasia semapv:UnspecifiedMatching MONDO:0010248 X-linked spondyloepimetaphyseal dysplasia skos:exactMatch UMLS:C1848097 semapv:UnspecifiedMatching MONDO:0010248 X-linked spondyloepimetaphyseal dysplasia skos:exactMatch mesh:C564714 semapv:UnspecifiedMatching MONDO:0010250 intellectual disability, X-linked 49 skos:exactMatch DOID:0112060 Raynaud-Claes syndrome semapv:UnspecifiedMatching MONDO:0010250 intellectual disability, X-linked 49 skos:exactMatch MEDGEN:923000 semapv:UnspecifiedMatching MONDO:0010250 intellectual disability, X-linked 49 skos:exactMatch OMIM:300114 raynaud-claes syndrome semapv:UnspecifiedMatching MONDO:0010250 intellectual disability, X-linked 49 skos:exactMatch Orphanet:485350 CLCN4-related X-linked intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0010250 intellectual disability, X-linked 49 skos:exactMatch UMLS:C0796221 semapv:UnspecifiedMatching MONDO:0010251 intellectual disability, X-linked 50 skos:exactMatch DOID:0112029 non-syndromic X-linked intellectual disability 50 semapv:UnspecifiedMatching MONDO:0010251 intellectual disability, X-linked 50 skos:exactMatch MEDGEN:376278 semapv:UnspecifiedMatching MONDO:0010251 intellectual disability, X-linked 50 skos:exactMatch OMIM:300115 intellectual developmental disorder, X-linked 50 semapv:UnspecifiedMatching MONDO:0010251 intellectual disability, X-linked 50 skos:exactMatch UMLS:C1848087 semapv:UnspecifiedMatching MONDO:0010251 intellectual disability, X-linked 50 skos:exactMatch mesh:C564713 semapv:UnspecifiedMatching MONDO:0010252 intellectual disability, X-linked, with panhypopituitarism skos:exactMatch MEDGEN:394771 semapv:UnspecifiedMatching MONDO:0010252 intellectual disability, X-linked, with panhypopituitarism skos:exactMatch OMIM:300123 intellectual developmental disorder, x-linked, with panhypopituitarism semapv:UnspecifiedMatching MONDO:0010252 intellectual disability, X-linked, with panhypopituitarism skos:exactMatch UMLS:C2678223 semapv:UnspecifiedMatching MONDO:0010253 migraine, familial typical, susceptibility to, 2 skos:exactMatch MEDGEN:341144 semapv:UnspecifiedMatching MONDO:0010253 migraine, familial typical, susceptibility to, 2 skos:exactMatch OMIM:300125 migraine with or without aura, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0010253 migraine, familial typical, susceptibility to, 2 skos:exactMatch UMLS:C1848066 semapv:UnspecifiedMatching MONDO:0010254 obsolete hematopoietic stem cell kinetics, control of skos:exactMatch OMIM:300129 hematopoietic stem cell kinetics, control of semapv:UnspecifiedMatching MONDO:0010255 diabetes mellitus, insulin-dependent, X-linked, susceptibility to skos:exactMatch MEDGEN:338376 semapv:UnspecifiedMatching MONDO:0010255 diabetes mellitus, insulin-dependent, X-linked, susceptibility to skos:exactMatch OMIM:300136 type 1 diabetes mellitus, x-linked, susceptibility to semapv:UnspecifiedMatching MONDO:0010255 diabetes mellitus, insulin-dependent, X-linked, susceptibility to skos:exactMatch UMLS:C1848042 semapv:UnspecifiedMatching MONDO:0010256 intellectual disability, X-linked 21 skos:exactMatch DOID:0112022 non-syndromic X-linked intellectual disability 21 semapv:UnspecifiedMatching MONDO:0010256 intellectual disability, X-linked 21 skos:exactMatch MEDGEN:1790509 semapv:UnspecifiedMatching MONDO:0010256 intellectual disability, X-linked 21 skos:exactMatch OMIM:300143 intellectual developmental disorder, X-linked 21 semapv:UnspecifiedMatching MONDO:0010256 intellectual disability, X-linked 21 skos:exactMatch UMLS:C5551510 semapv:UnspecifiedMatching MONDO:0010257 prostate cancer, hereditary, X-linked 1 skos:exactMatch MEDGEN:339479 semapv:UnspecifiedMatching MONDO:0010257 prostate cancer, hereditary, X-linked 1 skos:exactMatch OMIM:300147 prostate cancer, hereditary, X-linked 1 semapv:UnspecifiedMatching MONDO:0010257 prostate cancer, hereditary, X-linked 1 skos:exactMatch UMLS:C1846279 semapv:UnspecifiedMatching MONDO:0010258 MEHMO syndrome skos:exactMatch DOID:0060801 MEHMO syndrome semapv:UnspecifiedMatching MONDO:0010258 MEHMO syndrome skos:exactMatch MEDGEN:375855 semapv:UnspecifiedMatching MONDO:0010258 MEHMO syndrome skos:exactMatch OMIM:300148 MEHMO syndrome semapv:UnspecifiedMatching MONDO:0010258 MEHMO syndrome skos:exactMatch Orphanet:85282 MEHMO syndrome semapv:UnspecifiedMatching MONDO:0010258 MEHMO syndrome skos:exactMatch SCTID:722037004 semapv:UnspecifiedMatching MONDO:0010258 MEHMO syndrome skos:exactMatch UMLS:C1846278 semapv:UnspecifiedMatching MONDO:0010258 MEHMO syndrome skos:exactMatch icd11.foundation:500681653 MEHMO syndrome semapv:UnspecifiedMatching MONDO:0010258 MEHMO syndrome skos:exactMatch mesh:C537451 semapv:UnspecifiedMatching MONDO:0010259 retinitis pigmentosa 24 skos:exactMatch DOID:0110416 retinitis pigmentosa 24 semapv:UnspecifiedMatching MONDO:0010259 retinitis pigmentosa 24 skos:exactMatch MEDGEN:854690 semapv:UnspecifiedMatching MONDO:0010259 retinitis pigmentosa 24 skos:exactMatch OMIM:300155 retinitis pigmentosa 24 semapv:UnspecifiedMatching MONDO:0010259 retinitis pigmentosa 24 skos:exactMatch UMLS:C3887982 semapv:UnspecifiedMatching MONDO:0010260 arthrogryposis, congenital, lower limb, X-linked skos:exactMatch MEDGEN:339477 semapv:UnspecifiedMatching MONDO:0010260 arthrogryposis, congenital, lower limb, X-linked skos:exactMatch OMIM:300158 arthrogryposis, congenital, lower limb, X-linked semapv:UnspecifiedMatching MONDO:0010260 arthrogryposis, congenital, lower limb, X-linked skos:exactMatch UMLS:C1846273 semapv:UnspecifiedMatching MONDO:0010260 arthrogryposis, congenital, lower limb, X-linked skos:exactMatch mesh:C564574 semapv:UnspecifiedMatching MONDO:0010261 microphthalmia, syndromic 2 skos:exactMatch DOID:0111809 syndromic microphthalmia 2 semapv:UnspecifiedMatching MONDO:0010261 microphthalmia, syndromic 2 skos:exactMatch MEDGEN:337547 semapv:UnspecifiedMatching MONDO:0010261 microphthalmia, syndromic 2 skos:exactMatch OMIM:300166 microphthalmia, syndromic 2 semapv:UnspecifiedMatching MONDO:0010261 microphthalmia, syndromic 2 skos:exactMatch Orphanet:2712 Oculofaciocardiodental syndrome semapv:UnspecifiedMatching MONDO:0010261 microphthalmia, syndromic 2 skos:exactMatch SCTID:699300009 semapv:UnspecifiedMatching MONDO:0010261 microphthalmia, syndromic 2 skos:exactMatch UMLS:C1846265 semapv:UnspecifiedMatching MONDO:0010262 hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses skos:exactMatch MEDGEN:373521 semapv:UnspecifiedMatching MONDO:0010262 hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses skos:exactMatch OMIM:300184 hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses semapv:UnspecifiedMatching MONDO:0010262 hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses skos:exactMatch UMLS:C1970936 semapv:UnspecifiedMatching MONDO:0010262 hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses skos:exactMatch mesh:C537159 semapv:UnspecifiedMatching MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome skos:exactMatch DOID:0111860 AMME complex semapv:UnspecifiedMatching MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome skos:exactMatch MEDGEN:337424 semapv:UnspecifiedMatching MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome skos:exactMatch OMIM:300194 amme complex semapv:UnspecifiedMatching MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome skos:exactMatch Orphanet:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome semapv:UnspecifiedMatching MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome skos:exactMatch SCTID:720982007 semapv:UnspecifiedMatching MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome skos:exactMatch UMLS:C1846242 semapv:UnspecifiedMatching MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome skos:exactMatch mesh:C564570 semapv:UnspecifiedMatching MONDO:0010264 X-linked adrenal hypoplasia congenita skos:exactMatch DOID:0080156 X-linked adrenal hypoplasia congenita semapv:UnspecifiedMatching MONDO:0010264 X-linked adrenal hypoplasia congenita skos:exactMatch MEDGEN:87442 semapv:UnspecifiedMatching MONDO:0010264 X-linked adrenal hypoplasia congenita skos:exactMatch NCIT:C123725 X-Linked Adrenal Hypoplasia Congenita semapv:UnspecifiedMatching MONDO:0010264 X-linked adrenal hypoplasia congenita skos:exactMatch OMIM:300200 adrenal hypoplasia, congenital semapv:UnspecifiedMatching MONDO:0010264 X-linked adrenal hypoplasia congenita skos:exactMatch Orphanet:95702 X-linked adrenal hypoplasia congenita semapv:UnspecifiedMatching MONDO:0010264 X-linked adrenal hypoplasia congenita skos:exactMatch SCTID:93235007 semapv:UnspecifiedMatching MONDO:0010264 X-linked adrenal hypoplasia congenita skos:exactMatch UMLS:C0342482 semapv:UnspecifiedMatching MONDO:0010265 Simpson-Golabi-Behmel syndrome type 2 skos:exactMatch DOID:0080342 Simpson-Golabi-Behmel syndrome type 2 semapv:UnspecifiedMatching MONDO:0010265 Simpson-Golabi-Behmel syndrome type 2 skos:exactMatch MEDGEN:337527 semapv:UnspecifiedMatching MONDO:0010265 Simpson-Golabi-Behmel syndrome type 2 skos:exactMatch OMIM:300209 simpson-golabi-behmel syndrome, type 2 semapv:UnspecifiedMatching MONDO:0010265 Simpson-Golabi-Behmel syndrome type 2 skos:exactMatch UMLS:C1846175 semapv:UnspecifiedMatching MONDO:0010265 Simpson-Golabi-Behmel syndrome type 2 skos:exactMatch mesh:C564567 semapv:UnspecifiedMatching MONDO:0010266 intellectual disability, X-linked 58 skos:exactMatch DOID:0112024 non-syndromic X-linked intellectual disability 58 semapv:UnspecifiedMatching MONDO:0010266 intellectual disability, X-linked 58 skos:exactMatch MEDGEN:337526 semapv:UnspecifiedMatching MONDO:0010266 intellectual disability, X-linked 58 skos:exactMatch OMIM:300210 intellectual developmental disorder, X-linked 58 semapv:UnspecifiedMatching MONDO:0010266 intellectual disability, X-linked 58 skos:exactMatch UMLS:C1846174 semapv:UnspecifiedMatching MONDO:0010266 intellectual disability, X-linked 58 skos:exactMatch mesh:C564566 semapv:UnspecifiedMatching MONDO:0010267 episodic muscle weakness, X-linked skos:exactMatch MEDGEN:337525 semapv:UnspecifiedMatching MONDO:0010267 episodic muscle weakness, X-linked skos:exactMatch OMIM:300211 episodic muscle weakness, X-linked semapv:UnspecifiedMatching MONDO:0010267 episodic muscle weakness, X-linked skos:exactMatch UMLS:C1846173 semapv:UnspecifiedMatching MONDO:0010267 episodic muscle weakness, X-linked skos:exactMatch mesh:C564565 semapv:UnspecifiedMatching MONDO:0010268 X-linked lissencephaly with abnormal genitalia skos:exactMatch DOID:0112238 X-linked lissencephaly 2 semapv:UnspecifiedMatching MONDO:0010268 X-linked lissencephaly with abnormal genitalia skos:exactMatch MEDGEN:375832 semapv:UnspecifiedMatching MONDO:0010268 X-linked lissencephaly with abnormal genitalia skos:exactMatch OMIM:300215 lissencephaly, x-linked, 2 semapv:UnspecifiedMatching MONDO:0010268 X-linked lissencephaly with abnormal genitalia skos:exactMatch Orphanet:452 X-linked lissencephaly with abnormal genitalia semapv:UnspecifiedMatching MONDO:0010268 X-linked lissencephaly with abnormal genitalia skos:exactMatch SCTID:717632002 semapv:UnspecifiedMatching MONDO:0010268 X-linked lissencephaly with abnormal genitalia skos:exactMatch UMLS:C1846171 semapv:UnspecifiedMatching MONDO:0010268 X-linked lissencephaly with abnormal genitalia skos:exactMatch mesh:C564563 semapv:UnspecifiedMatching MONDO:0010269 Coats disease skos:exactMatch DOID:7765 Coats disease semapv:UnspecifiedMatching MONDO:0010269 Coats disease skos:exactMatch MEDGEN:1870587 semapv:UnspecifiedMatching MONDO:0010269 Coats disease skos:exactMatch OMIM:300216 coats disease semapv:UnspecifiedMatching MONDO:0010269 Coats disease skos:exactMatch Orphanet:190 Coats disease semapv:UnspecifiedMatching MONDO:0010269 Coats disease skos:exactMatch SCTID:360455002 semapv:UnspecifiedMatching MONDO:0010269 Coats disease skos:exactMatch UMLS:C5964756 semapv:UnspecifiedMatching MONDO:0010269 Coats disease skos:exactMatch icd11.foundation:2032707885 Coats disease semapv:UnspecifiedMatching MONDO:0010269 Coats disease skos:exactMatch mesh:D058456 semapv:UnspecifiedMatching MONDO:0010270 syndromic X-linked intellectual disability 7 skos:exactMatch DOID:0060808 syndromic X-linked intellectual disability 7 semapv:UnspecifiedMatching MONDO:0010270 syndromic X-linked intellectual disability 7 skos:exactMatch MEDGEN:337403 semapv:UnspecifiedMatching MONDO:0010270 syndromic X-linked intellectual disability 7 skos:exactMatch OMIM:300218 intellectual developmental disorder, x-linked, syndromic 7 semapv:UnspecifiedMatching MONDO:0010270 syndromic X-linked intellectual disability 7 skos:exactMatch Orphanet:85274 Syndromic X-linked intellectual disability 7 semapv:UnspecifiedMatching MONDO:0010270 syndromic X-linked intellectual disability 7 skos:exactMatch SCTID:719160009 semapv:UnspecifiedMatching MONDO:0010270 syndromic X-linked intellectual disability 7 skos:exactMatch UMLS:C1846170 semapv:UnspecifiedMatching MONDO:0010270 syndromic X-linked intellectual disability 7 skos:exactMatch mesh:C537449 semapv:UnspecifiedMatching MONDO:0010271 X-linked myotubular myopathy-abnormal genitalia syndrome skos:exactMatch MEDGEN:335354 semapv:UnspecifiedMatching MONDO:0010271 X-linked myotubular myopathy-abnormal genitalia syndrome skos:exactMatch OMIM:300219 myotubular myopathy with abnormal genital development semapv:UnspecifiedMatching MONDO:0010271 X-linked myotubular myopathy-abnormal genitalia syndrome skos:exactMatch Orphanet:456328 X-linked myotubular myopathy-abnormal genitalia syndrome semapv:UnspecifiedMatching MONDO:0010271 X-linked myotubular myopathy-abnormal genitalia syndrome skos:exactMatch UMLS:C1846169 semapv:UnspecifiedMatching MONDO:0010271 X-linked myotubular myopathy-abnormal genitalia syndrome skos:exactMatch mesh:C564561 semapv:UnspecifiedMatching MONDO:0010273 lymphoma, Hodgkin, X-linked pseudoautosomal skos:exactMatch MEDGEN:335352 semapv:UnspecifiedMatching MONDO:0010273 lymphoma, Hodgkin, X-linked pseudoautosomal skos:exactMatch OMIM:300221 lymphoma, hodgkin, X-linked pseudoautosomal semapv:UnspecifiedMatching MONDO:0010273 lymphoma, Hodgkin, X-linked pseudoautosomal skos:exactMatch UMLS:C1846167 semapv:UnspecifiedMatching MONDO:0010273 lymphoma, Hodgkin, X-linked pseudoautosomal skos:exactMatch mesh:C538326 semapv:UnspecifiedMatching MONDO:0010274 testicular germ cell tumor 1 skos:exactMatch MEDGEN:337402 semapv:UnspecifiedMatching MONDO:0010274 testicular germ cell tumor 1 skos:exactMatch OMIM:300228 testicular germ cell tumor 1 semapv:UnspecifiedMatching MONDO:0010274 testicular germ cell tumor 1 skos:exactMatch UMLS:C1846164 semapv:UnspecifiedMatching MONDO:0010274 testicular germ cell tumor 1 skos:exactMatch mesh:C564559 semapv:UnspecifiedMatching MONDO:0010275 spondyloepimetaphyseal dysplasia, Bieganski type skos:exactMatch MEDGEN:335350 semapv:UnspecifiedMatching MONDO:0010275 spondyloepimetaphyseal dysplasia, Bieganski type skos:exactMatch OMIM:300232 spondyloepimetaphyseal dysplasia, x-linked, with hypomyelinating leukodystrophy semapv:UnspecifiedMatching MONDO:0010275 spondyloepimetaphyseal dysplasia, Bieganski type skos:exactMatch Orphanet:83629 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome semapv:UnspecifiedMatching MONDO:0010275 spondyloepimetaphyseal dysplasia, Bieganski type skos:exactMatch UMLS:C1846148 semapv:UnspecifiedMatching MONDO:0010275 spondyloepimetaphyseal dysplasia, Bieganski type skos:exactMatch icd11.foundation:1073330593 Spondyloepimetaphyseal dysplasia, Bieganski type semapv:UnspecifiedMatching MONDO:0010275 spondyloepimetaphyseal dysplasia, Bieganski type skos:exactMatch mesh:C536671 semapv:UnspecifiedMatching MONDO:0010275 spondyloepimetaphyseal dysplasia, Bieganski type skos:exactMatch mesh:C567065 semapv:UnspecifiedMatching MONDO:0010276 radioulnar synostosis, radial ray abnormalities, and severe malformations in the male skos:exactMatch MEDGEN:335349 semapv:UnspecifiedMatching MONDO:0010276 radioulnar synostosis, radial ray abnormalities, and severe malformations in the male skos:exactMatch OMIM:300233 radioulnar synostosis, radial ray abnormalities, and severe malformations 1n the male semapv:UnspecifiedMatching MONDO:0010276 radioulnar synostosis, radial ray abnormalities, and severe malformations in the male skos:exactMatch UMLS:C1846147 semapv:UnspecifiedMatching MONDO:0010276 radioulnar synostosis, radial ray abnormalities, and severe malformations in the male skos:exactMatch mesh:C564557 semapv:UnspecifiedMatching MONDO:0010277 syndromic X-linked intellectual disability Shashi type skos:exactMatch DOID:0060826 syndromic X-linked intellectual disability Shashi type semapv:UnspecifiedMatching MONDO:0010277 syndromic X-linked intellectual disability Shashi type skos:exactMatch MEDGEN:335348 semapv:UnspecifiedMatching MONDO:0010277 syndromic X-linked intellectual disability Shashi type skos:exactMatch OMIM:300238 intellectual developmental disorder, x-linked, syndromic, shashi type semapv:UnspecifiedMatching MONDO:0010277 syndromic X-linked intellectual disability Shashi type skos:exactMatch Orphanet:85286 X-linked intellectual disability, Shashi type semapv:UnspecifiedMatching MONDO:0010277 syndromic X-linked intellectual disability Shashi type skos:exactMatch SCTID:718900002 semapv:UnspecifiedMatching MONDO:0010277 syndromic X-linked intellectual disability Shashi type skos:exactMatch UMLS:C1846145 semapv:UnspecifiedMatching MONDO:0010277 syndromic X-linked intellectual disability Shashi type skos:exactMatch mesh:C537135 semapv:UnspecifiedMatching MONDO:0010278 Christianson syndrome skos:exactMatch DOID:0060825 Christianson syndrome semapv:UnspecifiedMatching MONDO:0010278 Christianson syndrome skos:exactMatch MEDGEN:394455 semapv:UnspecifiedMatching MONDO:0010278 Christianson syndrome skos:exactMatch OMIM:300243 intellectual developmental disorder, x-linked, syndromic, christianson type semapv:UnspecifiedMatching MONDO:0010278 Christianson syndrome skos:exactMatch Orphanet:85278 Christianson syndrome semapv:UnspecifiedMatching MONDO:0010278 Christianson syndrome skos:exactMatch SCTID:702354007 semapv:UnspecifiedMatching MONDO:0010278 Christianson syndrome skos:exactMatch UMLS:C2678194 semapv:UnspecifiedMatching MONDO:0010278 Christianson syndrome skos:exactMatch mesh:C567484 semapv:UnspecifiedMatching MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome skos:exactMatch DOID:0112149 terminal osseous dysplasia semapv:UnspecifiedMatching MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome skos:exactMatch MEDGEN:335344 semapv:UnspecifiedMatching MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome skos:exactMatch OMIM:300244 terminal osseous dysplasia semapv:UnspecifiedMatching MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome skos:exactMatch Orphanet:88630 Terminal osseous dysplasia-pigmentary defects syndrome semapv:UnspecifiedMatching MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome skos:exactMatch UMLS:C1846129 semapv:UnspecifiedMatching MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome skos:exactMatch mesh:C564554 semapv:UnspecifiedMatching MONDO:0010280 ptosis, hereditary congenital 2 skos:exactMatch DOID:0061148 hereditary congenital ptosis 2 semapv:UnspecifiedMatching MONDO:0010280 ptosis, hereditary congenital 2 skos:exactMatch MEDGEN:337515 semapv:UnspecifiedMatching MONDO:0010280 ptosis, hereditary congenital 2 skos:exactMatch OMIM:300245 ptosis, hereditary congenital 2 semapv:UnspecifiedMatching MONDO:0010280 ptosis, hereditary congenital 2 skos:exactMatch UMLS:C1846128 semapv:UnspecifiedMatching MONDO:0010280 ptosis, hereditary congenital 2 skos:exactMatch mesh:C564553 semapv:UnspecifiedMatching MONDO:0010281 Danon disease skos:exactMatch DOID:0050437 Danon disease semapv:UnspecifiedMatching MONDO:0010281 Danon disease skos:exactMatch EFO:1001333 semapv:UnspecifiedMatching MONDO:0010281 Danon disease skos:exactMatch MEDGEN:209235 semapv:UnspecifiedMatching MONDO:0010281 Danon disease skos:exactMatch NCIT:C84735 Glycogen Storage Disease Type IIb semapv:UnspecifiedMatching MONDO:0010281 Danon disease skos:exactMatch OMIM:300257 danon disease semapv:UnspecifiedMatching MONDO:0010281 Danon disease skos:exactMatch Orphanet:34587 Danon disease semapv:UnspecifiedMatching MONDO:0010281 Danon disease skos:exactMatch SCTID:419097006 semapv:UnspecifiedMatching MONDO:0010281 Danon disease skos:exactMatch UMLS:C0878677 semapv:UnspecifiedMatching MONDO:0010281 Danon disease skos:exactMatch icd11.foundation:1233188442 Danon disease semapv:UnspecifiedMatching MONDO:0010281 Danon disease skos:exactMatch mesh:D052120 semapv:UnspecifiedMatching MONDO:0010282 Mycobacterium tuberculosis, susceptibility to, X-linked skos:exactMatch MEDGEN:357096 semapv:UnspecifiedMatching MONDO:0010282 Mycobacterium tuberculosis, susceptibility to, X-linked skos:exactMatch OMIM:300259 mycobacterium tuberculosis, susceptibility to, X-linked semapv:UnspecifiedMatching MONDO:0010282 Mycobacterium tuberculosis, susceptibility to, X-linked skos:exactMatch UMLS:C1866629 semapv:UnspecifiedMatching MONDO:0010283 syndromic X-linked intellectual disability Lubs type skos:exactMatch DOID:0060799 syndromic X-linked intellectual disability Lubs type semapv:UnspecifiedMatching MONDO:0010283 syndromic X-linked intellectual disability Lubs type skos:exactMatch MEDGEN:337496 semapv:UnspecifiedMatching MONDO:0010283 syndromic X-linked intellectual disability Lubs type skos:exactMatch NCIT:C126747 Lubs X-Linked Mental Retardation Syndrome semapv:UnspecifiedMatching MONDO:0010283 syndromic X-linked intellectual disability Lubs type skos:exactMatch OMIM:300260 intellectual developmental disorder, x-linked, syndromic, lubs type semapv:UnspecifiedMatching MONDO:0010283 syndromic X-linked intellectual disability Lubs type skos:exactMatch Orphanet:1762 Proximal Xq28 duplication syndrome semapv:UnspecifiedMatching MONDO:0010283 syndromic X-linked intellectual disability Lubs type skos:exactMatch SCTID:702816000 semapv:UnspecifiedMatching MONDO:0010283 syndromic X-linked intellectual disability Lubs type skos:exactMatch UMLS:C1846058 semapv:UnspecifiedMatching MONDO:0010283 syndromic X-linked intellectual disability Lubs type skos:exactMatch mesh:C537723 semapv:UnspecifiedMatching MONDO:0010284 Armfield syndrome skos:exactMatch DOID:0050764 Armfield syndrome semapv:UnspecifiedMatching MONDO:0010284 Armfield syndrome skos:exactMatch MEDGEN:375800 semapv:UnspecifiedMatching MONDO:0010284 Armfield syndrome skos:exactMatch OMIM:300261 intellectual developmental disorder, x-linked, syndromic, armfield type semapv:UnspecifiedMatching MONDO:0010284 Armfield syndrome skos:exactMatch Orphanet:85276 X-linked intellectual disability, Armfield type semapv:UnspecifiedMatching MONDO:0010284 Armfield syndrome skos:exactMatch SCTID:719017003 semapv:UnspecifiedMatching MONDO:0010284 Armfield syndrome skos:exactMatch UMLS:C1846057 semapv:UnspecifiedMatching MONDO:0010284 Armfield syndrome skos:exactMatch mesh:C564551 semapv:UnspecifiedMatching MONDO:0010285 syndromic X-linked intellectual disability Abidi type skos:exactMatch DOID:0060818 syndromic X-linked intellectual disability Abidi type semapv:UnspecifiedMatching MONDO:0010285 syndromic X-linked intellectual disability Abidi type skos:exactMatch MEDGEN:337376 semapv:UnspecifiedMatching MONDO:0010285 syndromic X-linked intellectual disability Abidi type skos:exactMatch OMIM:300262 intellectual developmental disorder, x-linked, syndromic, abidi type semapv:UnspecifiedMatching MONDO:0010285 syndromic X-linked intellectual disability Abidi type skos:exactMatch Orphanet:85273 X-linked intellectual disability, Abidi type semapv:UnspecifiedMatching MONDO:0010285 syndromic X-linked intellectual disability Abidi type skos:exactMatch UMLS:C1846056 semapv:UnspecifiedMatching MONDO:0010285 syndromic X-linked intellectual disability Abidi type skos:exactMatch mesh:C535556 semapv:UnspecifiedMatching MONDO:0010286 syndromic X-linked intellectual disability Siderius type skos:exactMatch DOID:0060812 syndromic X-linked intellectual disability Siderius type semapv:UnspecifiedMatching MONDO:0010286 syndromic X-linked intellectual disability Siderius type skos:exactMatch MEDGEN:337375 semapv:UnspecifiedMatching MONDO:0010286 syndromic X-linked intellectual disability Siderius type skos:exactMatch OMIM:300263 intellectual developmental disorder, x-linked, syndromic, siderius type semapv:UnspecifiedMatching MONDO:0010286 syndromic X-linked intellectual disability Siderius type skos:exactMatch Orphanet:85287 X-linked intellectual disability, Siderius type semapv:UnspecifiedMatching MONDO:0010286 syndromic X-linked intellectual disability Siderius type skos:exactMatch UMLS:C1846055 semapv:UnspecifiedMatching MONDO:0010286 syndromic X-linked intellectual disability Siderius type skos:exactMatch mesh:C537333 semapv:UnspecifiedMatching MONDO:0010287 hereditary spastic paraplegia 16 skos:exactMatch DOID:0110769 hereditary spastic paraplegia 16 semapv:UnspecifiedMatching MONDO:0010287 hereditary spastic paraplegia 16 skos:exactMatch MEDGEN:375796 semapv:UnspecifiedMatching MONDO:0010287 hereditary spastic paraplegia 16 skos:exactMatch OMIM:300266 spastic paraplegia 16, X-linked semapv:UnspecifiedMatching MONDO:0010287 hereditary spastic paraplegia 16 skos:exactMatch Orphanet:100997 X-linked spastic paraplegia type 16 semapv:UnspecifiedMatching MONDO:0010287 hereditary spastic paraplegia 16 skos:exactMatch UMLS:C1846046 semapv:UnspecifiedMatching MONDO:0010287 hereditary spastic paraplegia 16 skos:exactMatch mesh:C536643 semapv:UnspecifiedMatching MONDO:0010288 adrenomyodystrophy skos:exactMatch MEDGEN:337494 semapv:UnspecifiedMatching MONDO:0010288 adrenomyodystrophy skos:exactMatch OMIM:300270 adrenomyodystrophy semapv:UnspecifiedMatching MONDO:0010288 adrenomyodystrophy skos:exactMatch Orphanet:977 Adrenomyodystrophy semapv:UnspecifiedMatching MONDO:0010288 adrenomyodystrophy skos:exactMatch SCTID:763311001 semapv:UnspecifiedMatching MONDO:0010288 adrenomyodystrophy skos:exactMatch UMLS:C1846044 semapv:UnspecifiedMatching MONDO:0010288 adrenomyodystrophy skos:exactMatch icd11.foundation:46666832 Adrenomyodystrophy semapv:UnspecifiedMatching MONDO:0010288 adrenomyodystrophy skos:exactMatch mesh:C538051 semapv:UnspecifiedMatching MONDO:0010289 intellectual disability, X-linked 72 skos:exactMatch DOID:0112059 non-syndromic X-linked intellectual disability 72 semapv:UnspecifiedMatching MONDO:0010289 intellectual disability, X-linked 72 skos:exactMatch MEDGEN:375793 semapv:UnspecifiedMatching MONDO:0010289 intellectual disability, X-linked 72 skos:exactMatch OMIM:300271 intellectual developmental disorder, X-linked 72 semapv:UnspecifiedMatching MONDO:0010289 intellectual disability, X-linked 72 skos:exactMatch UMLS:C1846038 semapv:UnspecifiedMatching MONDO:0010289 intellectual disability, X-linked 72 skos:exactMatch mesh:C564547 semapv:UnspecifiedMatching MONDO:0010290 goiter, multinodular 2 skos:exactMatch MEDGEN:337370 semapv:UnspecifiedMatching MONDO:0010290 goiter, multinodular 2 skos:exactMatch OMIM:300273 goiter, multinodular 2 semapv:UnspecifiedMatching MONDO:0010290 goiter, multinodular 2 skos:exactMatch UMLS:C1846033 semapv:UnspecifiedMatching MONDO:0010290 goiter, multinodular 2 skos:exactMatch mesh:C564546 semapv:UnspecifiedMatching MONDO:0010291 obsolete androgen insensitivity syndrome due to coactivator deficiency skos:exactMatch OMIM:300274 semapv:UnspecifiedMatching MONDO:0010292 Uruguay Faciocardiomusculoskeletal syndrome skos:exactMatch DOID:0112148 Uruguay faciocardiomusculoskeletal syndrome semapv:UnspecifiedMatching MONDO:0010292 Uruguay Faciocardiomusculoskeletal syndrome skos:exactMatch MEDGEN:335320 semapv:UnspecifiedMatching MONDO:0010292 Uruguay Faciocardiomusculoskeletal syndrome skos:exactMatch OMIM:300280 uruguay faciocardiomusculoskeletal syndrome semapv:UnspecifiedMatching MONDO:0010292 Uruguay Faciocardiomusculoskeletal syndrome skos:exactMatch UMLS:C1846010 semapv:UnspecifiedMatching MONDO:0010292 Uruguay Faciocardiomusculoskeletal syndrome skos:exactMatch mesh:C564544 semapv:UnspecifiedMatching MONDO:0010293 ectodermal dysplasia and immune deficiency skos:exactMatch DOID:0081077 ectodermal dysplasia and immune deficiency semapv:UnspecifiedMatching MONDO:0010293 ectodermal dysplasia and immune deficiency skos:exactMatch MEDGEN:375786 semapv:UnspecifiedMatching MONDO:0010293 ectodermal dysplasia and immune deficiency skos:exactMatch NCIT:C118844 Ectodermal Dysplasia and Immunodeficiency semapv:UnspecifiedMatching MONDO:0010293 ectodermal dysplasia and immune deficiency skos:exactMatch OMIMPS:300291 Ectodermal dysplasia and immune deficiency semapv:UnspecifiedMatching MONDO:0010293 ectodermal dysplasia and immune deficiency skos:exactMatch Orphanet:98813 Hypohidrotic ectodermal dysplasia with immunodeficiency semapv:UnspecifiedMatching MONDO:0010293 ectodermal dysplasia and immune deficiency skos:exactMatch SCTID:703525006 semapv:UnspecifiedMatching MONDO:0010293 ectodermal dysplasia and immune deficiency skos:exactMatch UMLS:C1846006 semapv:UnspecifiedMatching MONDO:0010293 ectodermal dysplasia and immune deficiency skos:exactMatch mesh:C536181 semapv:UnspecifiedMatching MONDO:0010294 X-linked severe congenital neutropenia skos:exactMatch DOID:0112128 X-linked severe congenital neutropenia semapv:UnspecifiedMatching MONDO:0010294 X-linked severe congenital neutropenia skos:exactMatch MEDGEN:335314 semapv:UnspecifiedMatching MONDO:0010294 X-linked severe congenital neutropenia skos:exactMatch OMIM:300299 neutropenia, severe congenital, X-linked semapv:UnspecifiedMatching MONDO:0010294 X-linked severe congenital neutropenia skos:exactMatch Orphanet:86788 X-linked severe congenital neutropenia semapv:UnspecifiedMatching MONDO:0010294 X-linked severe congenital neutropenia skos:exactMatch SCTID:718882006 semapv:UnspecifiedMatching MONDO:0010294 X-linked severe congenital neutropenia skos:exactMatch UMLS:C1845987 semapv:UnspecifiedMatching MONDO:0010294 X-linked severe congenital neutropenia skos:exactMatch mesh:C564539 semapv:UnspecifiedMatching MONDO:0010295 anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome skos:exactMatch MEDGEN:929406 semapv:UnspecifiedMatching MONDO:0010295 anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome skos:exactMatch Orphanet:69088 Hypohidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome semapv:UnspecifiedMatching MONDO:0010295 anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome skos:exactMatch SCTID:720986005 semapv:UnspecifiedMatching MONDO:0010295 anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome skos:exactMatch UMLS:C4303737 semapv:UnspecifiedMatching MONDO:0010295 anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome skos:exactMatch mesh:C564538 semapv:UnspecifiedMatching MONDO:0010296 immunodeficiency 61 skos:exactMatch DOID:0111999 immunodeficiency 61 semapv:UnspecifiedMatching MONDO:0010296 immunodeficiency 61 skos:exactMatch MEDGEN:337462 semapv:UnspecifiedMatching MONDO:0010296 immunodeficiency 61 skos:exactMatch OMIM:300310 immunodeficiency 61 semapv:UnspecifiedMatching MONDO:0010296 immunodeficiency 61 skos:exactMatch Orphanet:696945 X-linked common variable immunodeficiency phenotype due to SH3KBP1 deficiency semapv:UnspecifiedMatching MONDO:0010296 immunodeficiency 61 skos:exactMatch UMLS:C1845903 semapv:UnspecifiedMatching MONDO:0010296 immunodeficiency 61 skos:exactMatch mesh:C538057 semapv:UnspecifiedMatching MONDO:0010297 FG syndrome 2 skos:exactMatch MEDGEN:337461 semapv:UnspecifiedMatching MONDO:0010297 FG syndrome 2 skos:exactMatch OMIM:300321 fg syndrome 2 semapv:UnspecifiedMatching MONDO:0010297 FG syndrome 2 skos:exactMatch UMLS:C1845902 semapv:UnspecifiedMatching MONDO:0010298 Lesch-Nyhan syndrome skos:exactMatch DOID:1919 Lesch-Nyhan syndrome semapv:UnspecifiedMatching MONDO:0010298 Lesch-Nyhan syndrome skos:exactMatch ICD10CM:E79.1 Lesch-Nyhan syndrome semapv:UnspecifiedMatching MONDO:0010298 Lesch-Nyhan syndrome skos:exactMatch MEDGEN:9721 semapv:UnspecifiedMatching MONDO:0010298 Lesch-Nyhan syndrome skos:exactMatch NCIT:C61255 Lesch-Nyhan Syndrome semapv:UnspecifiedMatching MONDO:0010298 Lesch-Nyhan syndrome skos:exactMatch OMIM:300322 lesch-nyhan syndrome semapv:UnspecifiedMatching MONDO:0010298 Lesch-Nyhan syndrome skos:exactMatch Orphanet:510 Lesch-Nyhan syndrome semapv:UnspecifiedMatching MONDO:0010298 Lesch-Nyhan syndrome skos:exactMatch SCTID:10406007 semapv:UnspecifiedMatching MONDO:0010298 Lesch-Nyhan syndrome skos:exactMatch UMLS:C0023374 semapv:UnspecifiedMatching MONDO:0010298 Lesch-Nyhan syndrome skos:exactMatch icd11.foundation:1886495906 Lesch-Nyhan syndrome semapv:UnspecifiedMatching MONDO:0010298 Lesch-Nyhan syndrome skos:exactMatch mesh:D007926 semapv:UnspecifiedMatching MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:exactMatch DOID:0112127 HRPT-related hyperuricemia semapv:UnspecifiedMatching MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:exactMatch MEDGEN:82770 semapv:UnspecifiedMatching MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:exactMatch OMIM:300323 hyperuricemia, hprt-related semapv:UnspecifiedMatching MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:exactMatch Orphanet:79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency semapv:UnspecifiedMatching MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:exactMatch SCTID:238007004 semapv:UnspecifiedMatching MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:exactMatch UMLS:C0268117 semapv:UnspecifiedMatching MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:exactMatch mesh:C562583 semapv:UnspecifiedMatching MONDO:0010300 intellectual disability, X-linked 53 skos:exactMatch DOID:0112047 non-syndromic X-linked intellectual disability 53 semapv:UnspecifiedMatching MONDO:0010300 intellectual disability, X-linked 53 skos:exactMatch MEDGEN:335296 semapv:UnspecifiedMatching MONDO:0010300 intellectual disability, X-linked 53 skos:exactMatch OMIM:300324 intellectual developmental disorder, X-linked 53 semapv:UnspecifiedMatching MONDO:0010300 intellectual disability, X-linked 53 skos:exactMatch UMLS:C1845889 semapv:UnspecifiedMatching MONDO:0010300 intellectual disability, X-linked 53 skos:exactMatch mesh:C564533 semapv:UnspecifiedMatching MONDO:0010302 Ito hypomelanosis skos:exactMatch DOID:3156 hypomelanosis of Ito semapv:UnspecifiedMatching MONDO:0010302 Ito hypomelanosis skos:exactMatch MEDGEN:5920 semapv:UnspecifiedMatching MONDO:0010302 Ito hypomelanosis skos:exactMatch OMIM:300337 hypomelanosis of ITO semapv:UnspecifiedMatching MONDO:0010302 Ito hypomelanosis skos:exactMatch UMLS:C0022283 semapv:UnspecifiedMatching MONDO:0010304 Graves disease, susceptibility to, X-linked 1 skos:exactMatch MEDGEN:395552 semapv:UnspecifiedMatching MONDO:0010304 Graves disease, susceptibility to, X-linked 1 skos:exactMatch OMIM:300351 graves disease, susceptibility to, X-linked 1 semapv:UnspecifiedMatching MONDO:0010304 Graves disease, susceptibility to, X-linked 1 skos:exactMatch UMLS:C2678151 semapv:UnspecifiedMatching MONDO:0010305 creatine transporter deficiency skos:exactMatch DOID:0050800 cerebral creatine deficiency syndrome 1 semapv:UnspecifiedMatching MONDO:0010305 creatine transporter deficiency skos:exactMatch MEDGEN:337451 semapv:UnspecifiedMatching MONDO:0010305 creatine transporter deficiency skos:exactMatch NCIT:C125665 Cerebral Creatine Deficiency Syndrome 1 semapv:UnspecifiedMatching MONDO:0010305 creatine transporter deficiency skos:exactMatch OMIM:300352 cerebral creatine deficiency syndrome 1 semapv:UnspecifiedMatching MONDO:0010305 creatine transporter deficiency skos:exactMatch Orphanet:52503 X-linked creatine transporter deficiency semapv:UnspecifiedMatching MONDO:0010305 creatine transporter deficiency skos:exactMatch SCTID:698290008 semapv:UnspecifiedMatching MONDO:0010305 creatine transporter deficiency skos:exactMatch UMLS:C1845862 semapv:UnspecifiedMatching MONDO:0010305 creatine transporter deficiency skos:exactMatch mesh:C535598 semapv:UnspecifiedMatching MONDO:0010306 X-linked intellectual disability, Cabezas type skos:exactMatch DOID:0060822 syndromic X-linked intellectual disability Cabezas type semapv:UnspecifiedMatching MONDO:0010306 X-linked intellectual disability, Cabezas type skos:exactMatch MEDGEN:337334 semapv:UnspecifiedMatching MONDO:0010306 X-linked intellectual disability, Cabezas type skos:exactMatch OMIM:300354 intellectual developmental disorder, x-linked, syndromic, cabezas type semapv:UnspecifiedMatching MONDO:0010306 X-linked intellectual disability, Cabezas type skos:exactMatch Orphanet:85293 X-linked intellectual disability, Cabezas type semapv:UnspecifiedMatching MONDO:0010306 X-linked intellectual disability, Cabezas type skos:exactMatch SCTID:719811001 semapv:UnspecifiedMatching MONDO:0010306 X-linked intellectual disability, Cabezas type skos:exactMatch UMLS:C1845861 semapv:UnspecifiedMatching MONDO:0010307 intellectual disability, X-linked 73 skos:exactMatch DOID:0112017 non-syndromic X-linked intellectual disability 73 semapv:UnspecifiedMatching MONDO:0010307 intellectual disability, X-linked 73 skos:exactMatch MEDGEN:335293 semapv:UnspecifiedMatching MONDO:0010307 intellectual disability, X-linked 73 skos:exactMatch OMIM:300355 intellectual developmental disorder, X-linked 73 semapv:UnspecifiedMatching MONDO:0010307 intellectual disability, X-linked 73 skos:exactMatch UMLS:C1845860 semapv:UnspecifiedMatching MONDO:0010307 intellectual disability, X-linked 73 skos:exactMatch mesh:C564528 semapv:UnspecifiedMatching MONDO:0010308 thrombocytopenia, X-linked, with or without dyserythropoietic anemia skos:exactMatch MEDGEN:763703 semapv:UnspecifiedMatching MONDO:0010308 thrombocytopenia, X-linked, with or without dyserythropoietic anemia skos:exactMatch NCIT:C136653 X-linked Thrombocytopenia, with or without Dyserythropoietic Anemia semapv:UnspecifiedMatching MONDO:0010308 thrombocytopenia, X-linked, with or without dyserythropoietic anemia skos:exactMatch OMIM:300367 thrombocytopenia, x-linked, with or without dyserythropoietic anemia semapv:UnspecifiedMatching MONDO:0010308 thrombocytopenia, X-linked, with or without dyserythropoietic anemia skos:exactMatch UMLS:C3550789 semapv:UnspecifiedMatching MONDO:0010309 intellectual disability, X-linked 42 skos:exactMatch DOID:0112057 non-syndromic X-linked intellectual disability 42 semapv:UnspecifiedMatching MONDO:0010309 intellectual disability, X-linked 42 skos:exactMatch MEDGEN:337321 semapv:UnspecifiedMatching MONDO:0010309 intellectual disability, X-linked 42 skos:exactMatch OMIM:300372 intellectual developmental disorder, X-linked 42 semapv:UnspecifiedMatching MONDO:0010309 intellectual disability, X-linked 42 skos:exactMatch UMLS:C1845810 semapv:UnspecifiedMatching MONDO:0010309 intellectual disability, X-linked 42 skos:exactMatch mesh:C564524 semapv:UnspecifiedMatching MONDO:0010310 osteopathia striata with cranial sclerosis skos:exactMatch DOID:0060886 osteopathia striata with cranial sclerosis semapv:UnspecifiedMatching MONDO:0010310 osteopathia striata with cranial sclerosis skos:exactMatch MEDGEN:96590 semapv:UnspecifiedMatching MONDO:0010310 osteopathia striata with cranial sclerosis skos:exactMatch OMIM:300373 osteopathia striata with cranial sclerosis semapv:UnspecifiedMatching MONDO:0010310 osteopathia striata with cranial sclerosis skos:exactMatch Orphanet:2780 Osteopathia striata-cranial sclerosis syndrome semapv:UnspecifiedMatching MONDO:0010310 osteopathia striata with cranial sclerosis skos:exactMatch SCTID:254129003 semapv:UnspecifiedMatching MONDO:0010310 osteopathia striata with cranial sclerosis skos:exactMatch UMLS:C0432268 semapv:UnspecifiedMatching MONDO:0010310 osteopathia striata with cranial sclerosis skos:exactMatch mesh:C536053 semapv:UnspecifiedMatching MONDO:0010311 Becker muscular dystrophy skos:exactMatch DOID:9883 Becker muscular dystrophy semapv:UnspecifiedMatching MONDO:0010311 Becker muscular dystrophy skos:exactMatch MEDGEN:182959 semapv:UnspecifiedMatching MONDO:0010311 Becker muscular dystrophy skos:exactMatch NCIT:C84587 Becker's Muscular Dystrophy semapv:UnspecifiedMatching MONDO:0010311 Becker muscular dystrophy skos:exactMatch OMIM:300376 muscular dystrophy, becker type semapv:UnspecifiedMatching MONDO:0010311 Becker muscular dystrophy skos:exactMatch Orphanet:98895 Becker muscular dystrophy semapv:UnspecifiedMatching MONDO:0010311 Becker muscular dystrophy skos:exactMatch SCTID:387732009 semapv:UnspecifiedMatching MONDO:0010311 Becker muscular dystrophy skos:exactMatch UMLS:C0917713 semapv:UnspecifiedMatching MONDO:0010311 Becker muscular dystrophy skos:exactMatch icd11.foundation:690532643 Becker muscular dystrophy semapv:UnspecifiedMatching MONDO:0010311 Becker muscular dystrophy skos:exactMatch mesh:C570377 semapv:UnspecifiedMatching MONDO:0010312 radial ray deficiency, X-linked skos:exactMatch MEDGEN:337012 semapv:UnspecifiedMatching MONDO:0010312 radial ray deficiency, X-linked skos:exactMatch OMIM:300378 radial ray deficiency, X-linked semapv:UnspecifiedMatching MONDO:0010312 radial ray deficiency, X-linked skos:exactMatch UMLS:C1845717 semapv:UnspecifiedMatching MONDO:0010312 radial ray deficiency, X-linked skos:exactMatch mesh:C564523 semapv:UnspecifiedMatching MONDO:0010313 intellectual disability, X-linked 63 skos:exactMatch DOID:0112050 non-syndromic X-linked intellectual disability 63 semapv:UnspecifiedMatching MONDO:0010313 intellectual disability, X-linked 63 skos:exactMatch MEDGEN:337002 semapv:UnspecifiedMatching MONDO:0010313 intellectual disability, X-linked 63 skos:exactMatch OMIM:300387 intellectual developmental disorder, X-linked 63 semapv:UnspecifiedMatching MONDO:0010313 intellectual disability, X-linked 63 skos:exactMatch UMLS:C1845672 semapv:UnspecifiedMatching MONDO:0010313 intellectual disability, X-linked 63 skos:exactMatch mesh:C564522 semapv:UnspecifiedMatching MONDO:0010314 polymicrogyria, bilateral perisylvian, X-linked skos:exactMatch OMIM:300388 polymicrogyria, bilateral perisylvian, X-linked semapv:UnspecifiedMatching MONDO:0010314 polymicrogyria, bilateral perisylvian, X-linked skos:exactMatch SCTID:438583008 semapv:UnspecifiedMatching MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency skos:exactMatch DOID:0060013 X-linked severe combined immunodeficiency semapv:UnspecifiedMatching MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency skos:exactMatch EFO:0005555 semapv:UnspecifiedMatching MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency skos:exactMatch MEDGEN:220906 semapv:UnspecifiedMatching MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency skos:exactMatch NCIT:C4682 X-Linked Severe Combined Immunodeficiency semapv:UnspecifiedMatching MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency skos:exactMatch OMIM:300400 severe combined immunodeficiency, X-linked semapv:UnspecifiedMatching MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency skos:exactMatch Orphanet:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency semapv:UnspecifiedMatching MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency skos:exactMatch SCTID:203592006 semapv:UnspecifiedMatching MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency skos:exactMatch UMLS:C1279481 semapv:UnspecifiedMatching MONDO:0010316 FG syndrome 3 skos:exactMatch MEDGEN:375687 semapv:UnspecifiedMatching MONDO:0010316 FG syndrome 3 skos:exactMatch OMIM:300406 fg syndrome 3 semapv:UnspecifiedMatching MONDO:0010316 FG syndrome 3 skos:exactMatch UMLS:C1845567 semapv:UnspecifiedMatching MONDO:0010317 intellectual disability, X-linked, with or without seizures, ARX-related skos:exactMatch DOID:0112021 non-syndromic X-linked intellectual disability ARX-related semapv:UnspecifiedMatching MONDO:0010317 intellectual disability, X-linked, with or without seizures, ARX-related skos:exactMatch MEDGEN:208681 semapv:UnspecifiedMatching MONDO:0010317 intellectual disability, X-linked, with or without seizures, ARX-related skos:exactMatch OMIM:300419 intellectual developmental disorder, X-linked 29 semapv:UnspecifiedMatching MONDO:0010317 intellectual disability, X-linked, with or without seizures, ARX-related skos:exactMatch UMLS:C0796244 semapv:UnspecifiedMatching MONDO:0010317 intellectual disability, X-linked, with or without seizures, ARX-related skos:exactMatch mesh:C563150 semapv:UnspecifiedMatching MONDO:0010318 FG syndrome 4 skos:exactMatch MEDGEN:336965 semapv:UnspecifiedMatching MONDO:0010318 FG syndrome 4 skos:exactMatch OMIM:300422 fg syndrome 4 semapv:UnspecifiedMatching MONDO:0010318 FG syndrome 4 skos:exactMatch UMLS:C1845546 semapv:UnspecifiedMatching MONDO:0010319 syndromic X-linked intellectual disability Hedera type skos:exactMatch DOID:0060806 syndromic X-linked intellectual disability Hedera type semapv:UnspecifiedMatching MONDO:0010319 syndromic X-linked intellectual disability Hedera type skos:exactMatch MEDGEN:337257 semapv:UnspecifiedMatching MONDO:0010319 syndromic X-linked intellectual disability Hedera type skos:exactMatch OMIM:300423 intellectual developmental disorder, x-linked, syndromic, hedera type semapv:UnspecifiedMatching MONDO:0010319 syndromic X-linked intellectual disability Hedera type skos:exactMatch Orphanet:93952 X-linked intellectual disability, Hedera type semapv:UnspecifiedMatching MONDO:0010319 syndromic X-linked intellectual disability Hedera type skos:exactMatch UMLS:C1845543 semapv:UnspecifiedMatching MONDO:0010319 syndromic X-linked intellectual disability Hedera type skos:exactMatch mesh:C564516 semapv:UnspecifiedMatching MONDO:0010320 retinitis pigmentosa 23 skos:exactMatch DOID:0110412 retinitis pigmentosa 23 semapv:UnspecifiedMatching MONDO:0010320 retinitis pigmentosa 23 skos:exactMatch MEDGEN:238456 semapv:UnspecifiedMatching MONDO:0010320 retinitis pigmentosa 23 skos:exactMatch OMIM:300424 retinitis pigmentosa 23 semapv:UnspecifiedMatching MONDO:0010320 retinitis pigmentosa 23 skos:exactMatch UMLS:C1419610 semapv:UnspecifiedMatching MONDO:0010321 autism, susceptibility to, X-linked 1 skos:exactMatch MEDGEN:335205 semapv:UnspecifiedMatching MONDO:0010321 autism, susceptibility to, X-linked 1 skos:exactMatch OMIM:300425 autism, susceptibility to, X-linked 1 semapv:UnspecifiedMatching MONDO:0010321 autism, susceptibility to, X-linked 1 skos:exactMatch UMLS:C1845540 semapv:UnspecifiedMatching MONDO:0010322 intellectual disability, X-linked 2 skos:exactMatch DOID:0112016 non-syndromic X-linked intellectual disability 2 semapv:UnspecifiedMatching MONDO:0010322 intellectual disability, X-linked 2 skos:exactMatch MEDGEN:162922 semapv:UnspecifiedMatching MONDO:0010322 intellectual disability, X-linked 2 skos:exactMatch OMIM:300428 intellectual developmental disorder, X-linked 2 semapv:UnspecifiedMatching MONDO:0010322 intellectual disability, X-linked 2 skos:exactMatch UMLS:C0796207 semapv:UnspecifiedMatching MONDO:0010322 intellectual disability, X-linked 2 skos:exactMatch mesh:C563135 semapv:UnspecifiedMatching MONDO:0010323 Atkin-Flaitz syndrome skos:exactMatch MEDGEN:163230 semapv:UnspecifiedMatching MONDO:0010323 Atkin-Flaitz syndrome skos:exactMatch OMIM:300431 atkin-flaitz syndrome semapv:UnspecifiedMatching MONDO:0010323 Atkin-Flaitz syndrome skos:exactMatch Orphanet:1193 Atkin-Flaitz syndrome semapv:UnspecifiedMatching MONDO:0010323 Atkin-Flaitz syndrome skos:exactMatch SCTID:718577005 semapv:UnspecifiedMatching MONDO:0010323 Atkin-Flaitz syndrome skos:exactMatch UMLS:C0796206 semapv:UnspecifiedMatching MONDO:0010323 Atkin-Flaitz syndrome skos:exactMatch mesh:C538195 semapv:UnspecifiedMatching MONDO:0010324 intellectual disability, X-linked 81 skos:exactMatch DOID:0112033 non-syndromic X-linked intellectual disability 81 semapv:UnspecifiedMatching MONDO:0010324 intellectual disability, X-linked 81 skos:exactMatch MEDGEN:335203 semapv:UnspecifiedMatching MONDO:0010324 intellectual disability, X-linked 81 skos:exactMatch OMIM:300433 intellectual developmental disorder, X-linked 81 semapv:UnspecifiedMatching MONDO:0010324 intellectual disability, X-linked 81 skos:exactMatch UMLS:C1845531 semapv:UnspecifiedMatching MONDO:0010324 intellectual disability, X-linked 81 skos:exactMatch mesh:C564515 semapv:UnspecifiedMatching MONDO:0010325 X-linked intellectual disability, Stocco dos Santos type skos:exactMatch DOID:0112126 Stocco Dos Santos type X-linked intellectual disability semapv:UnspecifiedMatching MONDO:0010325 X-linked intellectual disability, Stocco dos Santos type skos:exactMatch MEDGEN:335202 semapv:UnspecifiedMatching MONDO:0010325 X-linked intellectual disability, Stocco dos Santos type skos:exactMatch OMIM:300434 intellectual developmental disorder, x-linked, syndromic, stocco dos santos type semapv:UnspecifiedMatching MONDO:0010325 X-linked intellectual disability, Stocco dos Santos type skos:exactMatch Orphanet:85288 X-linked intellectual disability, Stocco Dos Santos type semapv:UnspecifiedMatching MONDO:0010325 X-linked intellectual disability, Stocco dos Santos type skos:exactMatch SCTID:718910006 semapv:UnspecifiedMatching MONDO:0010325 X-linked intellectual disability, Stocco dos Santos type skos:exactMatch UMLS:C1845530 semapv:UnspecifiedMatching MONDO:0010325 X-linked intellectual disability, Stocco dos Santos type skos:exactMatch mesh:C537495 semapv:UnspecifiedMatching MONDO:0010326 intellectual disability, X-linked 46 skos:exactMatch DOID:0112055 non-syndromic X-linked intellectual disability 46 semapv:UnspecifiedMatching MONDO:0010326 intellectual disability, X-linked 46 skos:exactMatch MEDGEN:337255 semapv:UnspecifiedMatching MONDO:0010326 intellectual disability, X-linked 46 skos:exactMatch OMIM:300436 intellectual developmental disorder, X-linked 46 semapv:UnspecifiedMatching MONDO:0010326 intellectual disability, X-linked 46 skos:exactMatch UMLS:C1845526 semapv:UnspecifiedMatching MONDO:0010326 intellectual disability, X-linked 46 skos:exactMatch mesh:C564513 semapv:UnspecifiedMatching MONDO:0010327 HSD10 mitochondrial disease skos:exactMatch DOID:0060810 syndromic X-linked intellectual disability type 10 semapv:UnspecifiedMatching MONDO:0010327 HSD10 mitochondrial disease skos:exactMatch MEDGEN:781653 semapv:UnspecifiedMatching MONDO:0010327 HSD10 mitochondrial disease skos:exactMatch OMIM:300438 hsd10 mitochondrial disease semapv:UnspecifiedMatching MONDO:0010327 HSD10 mitochondrial disease skos:exactMatch Orphanet:391417 HSD10 disease semapv:UnspecifiedMatching MONDO:0010327 HSD10 mitochondrial disease skos:exactMatch SCTID:791000124107 semapv:UnspecifiedMatching MONDO:0010327 HSD10 mitochondrial disease skos:exactMatch UMLS:C3266731 semapv:UnspecifiedMatching MONDO:0010327 HSD10 mitochondrial disease skos:exactMatch mesh:C536080 semapv:UnspecifiedMatching MONDO:0010327 HSD10 mitochondrial disease skos:exactMatch mesh:C564560 semapv:UnspecifiedMatching MONDO:0010328 alpha-thalassemia-myelodysplastic syndrome skos:exactMatch DOID:0112125 alpha-thalassemia myelodysplasia syndrome semapv:UnspecifiedMatching MONDO:0010328 alpha-thalassemia-myelodysplastic syndrome skos:exactMatch MEDGEN:108433 semapv:UnspecifiedMatching MONDO:0010328 alpha-thalassemia-myelodysplastic syndrome skos:exactMatch OMIM:300448 alpha-thalassemia myelodysplasia syndrome semapv:UnspecifiedMatching MONDO:0010328 alpha-thalassemia-myelodysplastic syndrome skos:exactMatch Orphanet:231401 Alpha-thalassemia-myelodysplastic syndrome semapv:UnspecifiedMatching MONDO:0010328 alpha-thalassemia-myelodysplastic syndrome skos:exactMatch SCTID:307343001 semapv:UnspecifiedMatching MONDO:0010328 alpha-thalassemia-myelodysplastic syndrome skos:exactMatch UMLS:C0585216 semapv:UnspecifiedMatching MONDO:0010328 alpha-thalassemia-myelodysplastic syndrome skos:exactMatch mesh:C563023 semapv:UnspecifiedMatching MONDO:0010329 intellectual disability, X-linked 77 skos:exactMatch DOID:0112039 non-syndromic X-linked intellectual disability 77 semapv:UnspecifiedMatching MONDO:0010329 intellectual disability, X-linked 77 skos:exactMatch MEDGEN:335199 semapv:UnspecifiedMatching MONDO:0010329 intellectual disability, X-linked 77 skos:exactMatch OMIM:300454 intellectual developmental disorder, X-linked 77 semapv:UnspecifiedMatching MONDO:0010329 intellectual disability, X-linked 77 skos:exactMatch UMLS:C1845499 semapv:UnspecifiedMatching MONDO:0010329 intellectual disability, X-linked 77 skos:exactMatch mesh:C564511 semapv:UnspecifiedMatching MONDO:0010330 obsolete primary ciliary dyskinesia-retinitis pigmentosa syndrome skos:exactMatch DOID:0112124 X-linked retinitis pigmentosa and sinorespiratory infections semapv:UnspecifiedMatching MONDO:0010330 obsolete primary ciliary dyskinesia-retinitis pigmentosa syndrome skos:exactMatch OMIM:300455 retinitis pigmentosa, x-linked, and sinorespiratory infections with or without deafness semapv:UnspecifiedMatching MONDO:0010330 obsolete primary ciliary dyskinesia-retinitis pigmentosa syndrome skos:exactMatch Orphanet:247522 Primary ciliary dyskinesia-retinitis pigmentosa syndrome semapv:UnspecifiedMatching MONDO:0010330 obsolete primary ciliary dyskinesia-retinitis pigmentosa syndrome skos:exactMatch mesh:C567595 semapv:UnspecifiedMatching MONDO:0010331 coronary heart disease, susceptibility to, 3 skos:exactMatch MEDGEN:337240 semapv:UnspecifiedMatching MONDO:0010331 coronary heart disease, susceptibility to, 3 skos:exactMatch OMIM:300464 coronary heart disease, susceptibility to, 3 semapv:UnspecifiedMatching MONDO:0010331 coronary heart disease, susceptibility to, 3 skos:exactMatch UMLS:C1845454 semapv:UnspecifiedMatching MONDO:0010332 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome skos:exactMatch MEDGEN:1801270 semapv:UnspecifiedMatching MONDO:0010332 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome skos:exactMatch OMIM:300471 cubitus valgus with impaired intellectual development and unusual facies semapv:UnspecifiedMatching MONDO:0010332 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome skos:exactMatch Orphanet:85280 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome semapv:UnspecifiedMatching MONDO:0010332 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome skos:exactMatch UMLS:C5677056 semapv:UnspecifiedMatching MONDO:0010332 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome skos:exactMatch mesh:C564510 semapv:UnspecifiedMatching MONDO:0010333 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome skos:exactMatch DOID:0060816 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome semapv:UnspecifiedMatching MONDO:0010333 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome skos:exactMatch MEDGEN:335185 semapv:UnspecifiedMatching MONDO:0010333 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome skos:exactMatch OMIM:300472 corpus callosum, agenesis of, with impaired intellectual development, ocular coloboma, and micrognathia semapv:UnspecifiedMatching MONDO:0010333 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome skos:exactMatch Orphanet:52055 Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome semapv:UnspecifiedMatching MONDO:0010333 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome skos:exactMatch SCTID:722282008 semapv:UnspecifiedMatching MONDO:0010333 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome skos:exactMatch UMLS:C1845446 semapv:UnspecifiedMatching MONDO:0010333 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome skos:exactMatch mesh:C564509 semapv:UnspecifiedMatching MONDO:0010334 severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome skos:exactMatch DOID:0112123 deafness, dystonia, and cerebral hypomyelination semapv:UnspecifiedMatching MONDO:0010334 severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome skos:exactMatch MEDGEN:812964 semapv:UnspecifiedMatching MONDO:0010334 severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome skos:exactMatch OMIM:300475 deafness, dystonia, and cerebral hypomyelination semapv:UnspecifiedMatching MONDO:0010334 severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome skos:exactMatch Orphanet:369939 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome semapv:UnspecifiedMatching MONDO:0010334 severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome skos:exactMatch UMLS:C3806634 semapv:UnspecifiedMatching MONDO:0010334 severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome skos:exactMatch mesh:C564508 semapv:UnspecifiedMatching MONDO:0010335 X-linked cone-rod dystrophy 3 skos:exactMatch DOID:0111007 X-linked cone-rod dystrophy 3 semapv:UnspecifiedMatching MONDO:0010335 X-linked cone-rod dystrophy 3 skos:exactMatch MEDGEN:336932 semapv:UnspecifiedMatching MONDO:0010335 X-linked cone-rod dystrophy 3 skos:exactMatch OMIM:300476 cone-rod dystrophy, x-linked, 3 semapv:UnspecifiedMatching MONDO:0010335 X-linked cone-rod dystrophy 3 skos:exactMatch UMLS:C1845407 semapv:UnspecifiedMatching MONDO:0010335 X-linked cone-rod dystrophy 3 skos:exactMatch mesh:C564507 semapv:UnspecifiedMatching MONDO:0010336 orofaciodigital syndrome VIII skos:exactMatch DOID:0060378 orofaciodigital syndrome VIII semapv:UnspecifiedMatching MONDO:0010336 orofaciodigital syndrome VIII skos:exactMatch MEDGEN:208667 semapv:UnspecifiedMatching MONDO:0010336 orofaciodigital syndrome VIII skos:exactMatch OMIM:300484 orofaciodigital syndrome 8 semapv:UnspecifiedMatching MONDO:0010336 orofaciodigital syndrome VIII skos:exactMatch Orphanet:2755 Orofaciodigital syndrome type 8 semapv:UnspecifiedMatching MONDO:0010336 orofaciodigital syndrome VIII skos:exactMatch SCTID:722106001 semapv:UnspecifiedMatching MONDO:0010336 orofaciodigital syndrome VIII skos:exactMatch UMLS:C0796101 semapv:UnspecifiedMatching MONDO:0010336 orofaciodigital syndrome VIII skos:exactMatch mesh:C557820 semapv:UnspecifiedMatching MONDO:0010337 X-linked intellectual disability-cerebellar hypoplasia syndrome skos:exactMatch DOID:0080311 Billuart-type X-linked syndromic intellectual developmental disorder semapv:UnspecifiedMatching MONDO:0010337 X-linked intellectual disability-cerebellar hypoplasia syndrome skos:exactMatch MEDGEN:336920 semapv:UnspecifiedMatching MONDO:0010337 X-linked intellectual disability-cerebellar hypoplasia syndrome skos:exactMatch OMIM:300486 intellectual developmental disorder, x-linked, syndromic, billuart type semapv:UnspecifiedMatching MONDO:0010337 X-linked intellectual disability-cerebellar hypoplasia syndrome skos:exactMatch Orphanet:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome semapv:UnspecifiedMatching MONDO:0010337 X-linked intellectual disability-cerebellar hypoplasia syndrome skos:exactMatch SCTID:719136005 semapv:UnspecifiedMatching MONDO:0010337 X-linked intellectual disability-cerebellar hypoplasia syndrome skos:exactMatch UMLS:C1845366 semapv:UnspecifiedMatching MONDO:0010337 X-linked intellectual disability-cerebellar hypoplasia syndrome skos:exactMatch mesh:C537456 semapv:UnspecifiedMatching MONDO:0010338 X-linked distal spinal muscular atrophy type 3 skos:exactMatch DOID:0111196 X-linked distal spinal muscular atrophy 3 semapv:UnspecifiedMatching MONDO:0010338 X-linked distal spinal muscular atrophy type 3 skos:exactMatch MEDGEN:335168 semapv:UnspecifiedMatching MONDO:0010338 X-linked distal spinal muscular atrophy type 3 skos:exactMatch OMIM:300489 neuronopathy, distal hereditary motor, X-linked semapv:UnspecifiedMatching MONDO:0010338 X-linked distal spinal muscular atrophy type 3 skos:exactMatch Orphanet:139557 X-linked distal spinal muscular atrophy type 3 semapv:UnspecifiedMatching MONDO:0010338 X-linked distal spinal muscular atrophy type 3 skos:exactMatch SCTID:766764008 semapv:UnspecifiedMatching MONDO:0010338 X-linked distal spinal muscular atrophy type 3 skos:exactMatch UMLS:C1845359 semapv:UnspecifiedMatching MONDO:0010338 X-linked distal spinal muscular atrophy type 3 skos:exactMatch mesh:C564506 semapv:UnspecifiedMatching MONDO:0010339 epilepsy, X-linked 1, with variable learning disabilities and behavior disorders skos:exactMatch DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders semapv:UnspecifiedMatching MONDO:0010339 epilepsy, X-linked 1, with variable learning disabilities and behavior disorders skos:exactMatch MEDGEN:1823951 semapv:UnspecifiedMatching MONDO:0010339 epilepsy, X-linked 1, with variable learning disabilities and behavior disorders skos:exactMatch OMIM:300491 epilepsy, X-linked 1, with variable learning disabilities and behavior disorders semapv:UnspecifiedMatching MONDO:0010339 epilepsy, X-linked 1, with variable learning disabilities and behavior disorders skos:exactMatch Orphanet:85294 X-linked epilepsy-learning disabilities-behavior disorders syndrome semapv:UnspecifiedMatching MONDO:0010339 epilepsy, X-linked 1, with variable learning disabilities and behavior disorders skos:exactMatch UMLS:C5774177 semapv:UnspecifiedMatching MONDO:0010339 epilepsy, X-linked 1, with variable learning disabilities and behavior disorders skos:exactMatch mesh:C564505 semapv:UnspecifiedMatching MONDO:0010341 autism, susceptibility to, X-linked 2 skos:exactMatch MEDGEN:336964 semapv:UnspecifiedMatching MONDO:0010341 autism, susceptibility to, X-linked 2 skos:exactMatch OMIM:300495 autism, susceptibility to, X-linked 2 semapv:UnspecifiedMatching MONDO:0010341 autism, susceptibility to, X-linked 2 skos:exactMatch UMLS:C1845539 semapv:UnspecifiedMatching MONDO:0010341 autism, susceptibility to, X-linked 2 skos:exactMatch mesh:D038901 semapv:UnspecifiedMatching MONDO:0010342 autism, susceptibility to, X-linked 3 skos:exactMatch MEDGEN:335161 semapv:UnspecifiedMatching MONDO:0010342 autism, susceptibility to, X-linked 3 skos:exactMatch OMIM:300496 autism, susceptibility to, X-linked 3 semapv:UnspecifiedMatching MONDO:0010342 autism, susceptibility to, X-linked 3 skos:exactMatch UMLS:C1845336 semapv:UnspecifiedMatching MONDO:0010344 intellectual disability, X-linked 45 skos:exactMatch DOID:0112028 non-syndromic X-linked intellectual disability 45 semapv:UnspecifiedMatching MONDO:0010344 intellectual disability, X-linked 45 skos:exactMatch MEDGEN:375633 semapv:UnspecifiedMatching MONDO:0010344 intellectual disability, X-linked 45 skos:exactMatch OMIM:300498 intellectual developmental disorder, X-linked 45 semapv:UnspecifiedMatching MONDO:0010344 intellectual disability, X-linked 45 skos:exactMatch UMLS:C1845333 semapv:UnspecifiedMatching MONDO:0010344 intellectual disability, X-linked 45 skos:exactMatch mesh:C564503 semapv:UnspecifiedMatching MONDO:0010346 obsolete MRX52 skos:exactMatch OMIM:300504 semapv:UnspecifiedMatching MONDO:0010347 intellectual disability, X-linked 84 skos:exactMatch DOID:0112030 non-syndromic X-linked intellectual disability 84 semapv:UnspecifiedMatching MONDO:0010347 intellectual disability, X-linked 84 skos:exactMatch MEDGEN:337203 semapv:UnspecifiedMatching MONDO:0010347 intellectual disability, X-linked 84 skos:exactMatch OMIM:300505 intellectual developmental disorder, X-linked 84 semapv:UnspecifiedMatching MONDO:0010347 intellectual disability, X-linked 84 skos:exactMatch UMLS:C1845297 semapv:UnspecifiedMatching MONDO:0010347 intellectual disability, X-linked 84 skos:exactMatch mesh:C564501 semapv:UnspecifiedMatching MONDO:0010348 dyslexia, susceptibility to, 9 skos:exactMatch MEDGEN:375623 semapv:UnspecifiedMatching MONDO:0010348 dyslexia, susceptibility to, 9 skos:exactMatch OMIM:300509 dyslexia, susceptibility to, 9 semapv:UnspecifiedMatching MONDO:0010348 dyslexia, susceptibility to, 9 skos:exactMatch UMLS:C1845296 semapv:UnspecifiedMatching MONDO:0010349 ovarian dysgenesis 2 skos:exactMatch DOID:0080494 ovarian dysgenesis 2 semapv:UnspecifiedMatching MONDO:0010349 ovarian dysgenesis 2 skos:exactMatch DOID:0080861 primary ovarian insufficiency 4 semapv:UnspecifiedMatching MONDO:0010349 ovarian dysgenesis 2 skos:exactMatch MEDGEN:336903 semapv:UnspecifiedMatching MONDO:0010349 ovarian dysgenesis 2 skos:exactMatch OMIM:300510 ovarian dysgenesis 2 semapv:UnspecifiedMatching MONDO:0010349 ovarian dysgenesis 2 skos:exactMatch UMLS:C1845294 semapv:UnspecifiedMatching MONDO:0010349 ovarian dysgenesis 2 skos:exactMatch mesh:C564499 semapv:UnspecifiedMatching MONDO:0010350 premature ovarian failure 2A skos:exactMatch DOID:0080858 primary ovarian insufficiency 2A semapv:UnspecifiedMatching MONDO:0010350 premature ovarian failure 2A skos:exactMatch MEDGEN:336902 semapv:UnspecifiedMatching MONDO:0010350 premature ovarian failure 2A skos:exactMatch OMIM:300511 premature ovarian failure 2a semapv:UnspecifiedMatching MONDO:0010350 premature ovarian failure 2A skos:exactMatch UMLS:C1845293 semapv:UnspecifiedMatching MONDO:0010350 premature ovarian failure 2A skos:exactMatch mesh:C564498 semapv:UnspecifiedMatching MONDO:0010351 Fanconi anemia complementation group B skos:exactMatch DOID:0111098 Fanconi anemia complementation group B semapv:UnspecifiedMatching MONDO:0010351 Fanconi anemia complementation group B skos:exactMatch MEDGEN:336901 semapv:UnspecifiedMatching MONDO:0010351 Fanconi anemia complementation group B skos:exactMatch NCIT:C125703 Fanconi Anemia, Complementation Group B semapv:UnspecifiedMatching MONDO:0010351 Fanconi anemia complementation group B skos:exactMatch OMIM:300514 fanconi anemia, complementation group B semapv:UnspecifiedMatching MONDO:0010351 Fanconi anemia complementation group B skos:exactMatch UMLS:C1845292 semapv:UnspecifiedMatching MONDO:0010351 Fanconi anemia complementation group B skos:exactMatch mesh:C564497 semapv:UnspecifiedMatching MONDO:0010352 intellectual disability, X-linked 82 skos:exactMatch DOID:0112052 non-syndromic X-linked intellectual disability 82 semapv:UnspecifiedMatching MONDO:0010352 intellectual disability, X-linked 82 skos:exactMatch MEDGEN:337201 semapv:UnspecifiedMatching MONDO:0010352 intellectual disability, X-linked 82 skos:exactMatch OMIM:300518 intellectual developmental disorder, X-linked 82 semapv:UnspecifiedMatching MONDO:0010352 intellectual disability, X-linked 82 skos:exactMatch UMLS:C1845286 semapv:UnspecifiedMatching MONDO:0010352 intellectual disability, X-linked 82 skos:exactMatch mesh:C564496 semapv:UnspecifiedMatching MONDO:0010353 deafness-intellectual disability, Martin-Probst type syndrome skos:exactMatch DOID:0060830 deafness-intellectual disability, Martin-Probst type syndrome semapv:UnspecifiedMatching MONDO:0010353 deafness-intellectual disability, Martin-Probst type syndrome skos:exactMatch MEDGEN:375620 semapv:UnspecifiedMatching MONDO:0010353 deafness-intellectual disability, Martin-Probst type syndrome skos:exactMatch OMIM:300519 martin-probst syndrome semapv:UnspecifiedMatching MONDO:0010353 deafness-intellectual disability, Martin-Probst type syndrome skos:exactMatch Orphanet:85321 Deafness-intellectual disability syndrome, Martin-Probst type semapv:UnspecifiedMatching MONDO:0010353 deafness-intellectual disability, Martin-Probst type syndrome skos:exactMatch SCTID:721087008 semapv:UnspecifiedMatching MONDO:0010353 deafness-intellectual disability, Martin-Probst type syndrome skos:exactMatch UMLS:C1845285 semapv:UnspecifiedMatching MONDO:0010353 deafness-intellectual disability, Martin-Probst type syndrome skos:exactMatch mesh:C564495 semapv:UnspecifiedMatching MONDO:0010354 Allan-Herndon-Dudley syndrome skos:exactMatch DOID:0050631 Allan-Herndon-Dudley syndrome semapv:UnspecifiedMatching MONDO:0010354 Allan-Herndon-Dudley syndrome skos:exactMatch MEDGEN:208645 semapv:UnspecifiedMatching MONDO:0010354 Allan-Herndon-Dudley syndrome skos:exactMatch NCIT:C118843 Allan-Herndon-Dudley Syndrome semapv:UnspecifiedMatching MONDO:0010354 Allan-Herndon-Dudley syndrome skos:exactMatch OMIM:300523 allan-herndon-dudley syndrome semapv:UnspecifiedMatching MONDO:0010354 Allan-Herndon-Dudley syndrome skos:exactMatch Orphanet:59 Allan-Herndon-Dudley syndrome semapv:UnspecifiedMatching MONDO:0010354 Allan-Herndon-Dudley syndrome skos:exactMatch SCTID:702327009 semapv:UnspecifiedMatching MONDO:0010354 Allan-Herndon-Dudley syndrome skos:exactMatch UMLS:C0795889 semapv:UnspecifiedMatching MONDO:0010354 Allan-Herndon-Dudley syndrome skos:exactMatch icd11.foundation:56813604 Allan-Herndon-Dudley syndrome semapv:UnspecifiedMatching MONDO:0010354 Allan-Herndon-Dudley syndrome skos:exactMatch mesh:C537047 semapv:UnspecifiedMatching MONDO:0010355 syndromic X-linked intellectual disability Claes-Jensen type skos:exactMatch DOID:0060809 syndromic X-linked intellectual disability Claes-Jensen type semapv:UnspecifiedMatching MONDO:0010355 syndromic X-linked intellectual disability Claes-Jensen type skos:exactMatch MEDGEN:335139 semapv:UnspecifiedMatching MONDO:0010355 syndromic X-linked intellectual disability Claes-Jensen type skos:exactMatch OMIM:300534 intellectual developmental disorder, x-linked, syndromic, claes-jensen type semapv:UnspecifiedMatching MONDO:0010355 syndromic X-linked intellectual disability Claes-Jensen type skos:exactMatch Orphanet:85279 KDM5C-related syndromic X-linked intellectual disability semapv:UnspecifiedMatching MONDO:0010355 syndromic X-linked intellectual disability Claes-Jensen type skos:exactMatch SCTID:719161008 semapv:UnspecifiedMatching MONDO:0010355 syndromic X-linked intellectual disability Claes-Jensen type skos:exactMatch UMLS:C1845243 semapv:UnspecifiedMatching MONDO:0010355 syndromic X-linked intellectual disability Claes-Jensen type skos:exactMatch mesh:C564494 semapv:UnspecifiedMatching MONDO:0010356 nephrogenic syndrome of inappropriate antidiuresis skos:exactMatch DOID:0112121 nephrogenic syndrome of inappropriate antidiuresis semapv:UnspecifiedMatching MONDO:0010356 nephrogenic syndrome of inappropriate antidiuresis skos:exactMatch MEDGEN:336877 semapv:UnspecifiedMatching MONDO:0010356 nephrogenic syndrome of inappropriate antidiuresis skos:exactMatch OMIM:300539 nephrogenic syndrome of inappropriate antidiuresis semapv:UnspecifiedMatching MONDO:0010356 nephrogenic syndrome of inappropriate antidiuresis skos:exactMatch Orphanet:93606 Nephrogenic syndrome of inappropriate antidiuresis semapv:UnspecifiedMatching MONDO:0010356 nephrogenic syndrome of inappropriate antidiuresis skos:exactMatch SCTID:723440000 semapv:UnspecifiedMatching MONDO:0010356 nephrogenic syndrome of inappropriate antidiuresis skos:exactMatch UMLS:C1845202 semapv:UnspecifiedMatching MONDO:0010356 nephrogenic syndrome of inappropriate antidiuresis skos:exactMatch icd11.foundation:808905140 Nephrogenic syndrome of inappropriate antidiuresis semapv:UnspecifiedMatching MONDO:0010356 nephrogenic syndrome of inappropriate antidiuresis skos:exactMatch mesh:C564491 semapv:UnspecifiedMatching MONDO:0010357 obsolete MRX78 skos:exactMatch OMIM:300551 semapv:UnspecifiedMatching MONDO:0010358 hypophosphatemic rickets, X-linked recessive skos:exactMatch DOID:0080353 X-linked recessive hypophosphatemic rickets semapv:UnspecifiedMatching MONDO:0010358 hypophosphatemic rickets, X-linked recessive skos:exactMatch MEDGEN:335115 semapv:UnspecifiedMatching MONDO:0010358 hypophosphatemic rickets, X-linked recessive skos:exactMatch OMIM:300554 hypophosphatemic rickets, X-linked recessive semapv:UnspecifiedMatching MONDO:0010358 hypophosphatemic rickets, X-linked recessive skos:exactMatch UMLS:C1845168 semapv:UnspecifiedMatching MONDO:0010359 Dent disease type 2 skos:exactMatch DOID:0081454 Dent disease 2 semapv:UnspecifiedMatching MONDO:0010359 Dent disease type 2 skos:exactMatch MEDGEN:336867 semapv:UnspecifiedMatching MONDO:0010359 Dent disease type 2 skos:exactMatch OMIM:300555 dent disease 2 semapv:UnspecifiedMatching MONDO:0010359 Dent disease type 2 skos:exactMatch Orphanet:93623 Dent disease type 2 semapv:UnspecifiedMatching MONDO:0010359 Dent disease type 2 skos:exactMatch SCTID:717790004 semapv:UnspecifiedMatching MONDO:0010359 Dent disease type 2 skos:exactMatch UMLS:C1845167 semapv:UnspecifiedMatching MONDO:0010359 Dent disease type 2 skos:exactMatch icd11.foundation:2053330521 Dent disease type 2 semapv:UnspecifiedMatching MONDO:0010359 Dent disease type 2 skos:exactMatch mesh:C564487 semapv:UnspecifiedMatching MONDO:0010360 Parkinson disease 12 skos:exactMatch MEDGEN:337173 semapv:UnspecifiedMatching MONDO:0010360 Parkinson disease 12 skos:exactMatch OMIM:300557 parkinson disease 12 semapv:UnspecifiedMatching MONDO:0010360 Parkinson disease 12 skos:exactMatch UMLS:C1845165 semapv:UnspecifiedMatching MONDO:0010360 Parkinson disease 12 skos:exactMatch mesh:C564486 semapv:UnspecifiedMatching MONDO:0010361 intellectual disability, X-linked 30 skos:exactMatch DOID:0112051 non-syndromic X-linked intellectual disability 30 semapv:UnspecifiedMatching MONDO:0010361 intellectual disability, X-linked 30 skos:exactMatch MEDGEN:163235 semapv:UnspecifiedMatching MONDO:0010361 intellectual disability, X-linked 30 skos:exactMatch OMIM:300558 intellectual developmental disorder, X-linked 30 semapv:UnspecifiedMatching MONDO:0010361 intellectual disability, X-linked 30 skos:exactMatch UMLS:C0796237 semapv:UnspecifiedMatching MONDO:0010362 glycogen storage disease IXd skos:exactMatch DOID:0111040 glycogen storage disease IXd semapv:UnspecifiedMatching MONDO:0010362 glycogen storage disease IXd skos:exactMatch MEDGEN:335112 semapv:UnspecifiedMatching MONDO:0010362 glycogen storage disease IXd skos:exactMatch OMIM:300559 glycogen storage disease ixd semapv:UnspecifiedMatching MONDO:0010362 glycogen storage disease IXd skos:exactMatch Orphanet:715 Glycogen storage disease due to muscle phosphorylase kinase deficiency semapv:UnspecifiedMatching MONDO:0010362 glycogen storage disease IXd skos:exactMatch UMLS:C1845151 semapv:UnspecifiedMatching MONDO:0010362 glycogen storage disease IXd skos:exactMatch mesh:C564485 semapv:UnspecifiedMatching MONDO:0010363 intellectual disability, X-linked 91 skos:exactMatch DOID:0112043 non-syndromic X-linked intellectual disability 91 semapv:UnspecifiedMatching MONDO:0010363 intellectual disability, X-linked 91 skos:exactMatch MEDGEN:375592 semapv:UnspecifiedMatching MONDO:0010363 intellectual disability, X-linked 91 skos:exactMatch OMIM:300577 intellectual developmental disorder, X-linked 91 semapv:UnspecifiedMatching MONDO:0010363 intellectual disability, X-linked 91 skos:exactMatch UMLS:C1845142 semapv:UnspecifiedMatching MONDO:0010363 intellectual disability, X-linked 91 skos:exactMatch mesh:C564482 semapv:UnspecifiedMatching MONDO:0010364 X-linked intellectual disability-retinitis pigmentosa syndrome skos:exactMatch MEDGEN:336862 semapv:UnspecifiedMatching MONDO:0010364 X-linked intellectual disability-retinitis pigmentosa syndrome skos:exactMatch OMIM:300578 chromosome xp11.3 deletion syndrome semapv:UnspecifiedMatching MONDO:0010364 X-linked intellectual disability-retinitis pigmentosa syndrome skos:exactMatch Orphanet:85332 X-linked intellectual disability-retinitis pigmentosa syndrome semapv:UnspecifiedMatching MONDO:0010364 X-linked intellectual disability-retinitis pigmentosa syndrome skos:exactMatch SCTID:719808002 semapv:UnspecifiedMatching MONDO:0010364 X-linked intellectual disability-retinitis pigmentosa syndrome skos:exactMatch UMLS:C1845136 semapv:UnspecifiedMatching MONDO:0010365 myopathy, congenital, with fiber-type disproportion, X-linked skos:exactMatch DOID:0111226 X-linked congenital myopathy with fiber-type disproportion semapv:UnspecifiedMatching MONDO:0010365 myopathy, congenital, with fiber-type disproportion, X-linked skos:exactMatch MEDGEN:440714 semapv:UnspecifiedMatching MONDO:0010365 myopathy, congenital, with fiber-type disproportion, X-linked skos:exactMatch OMIM:300580 myopathy, congenital, with fiber-type disproportion, X-linked semapv:UnspecifiedMatching MONDO:0010365 myopathy, congenital, with fiber-type disproportion, X-linked skos:exactMatch UMLS:C2749128 semapv:UnspecifiedMatching MONDO:0010365 myopathy, congenital, with fiber-type disproportion, X-linked skos:exactMatch mesh:C567594 semapv:UnspecifiedMatching MONDO:0010366 FG syndrome 5 skos:exactMatch MEDGEN:336854 semapv:UnspecifiedMatching MONDO:0010366 FG syndrome 5 skos:exactMatch OMIM:300581 fg syndrome 5 semapv:UnspecifiedMatching MONDO:0010366 FG syndrome 5 skos:exactMatch UMLS:C1845119 semapv:UnspecifiedMatching MONDO:0010366 FG syndrome 5 skos:exactMatch mesh:C564480 semapv:UnspecifiedMatching MONDO:0010367 SHOX-related short stature skos:exactMatch DOID:0112120 SHOX-related short stature semapv:UnspecifiedMatching MONDO:0010367 SHOX-related short stature skos:exactMatch MEDGEN:375584 semapv:UnspecifiedMatching MONDO:0010367 SHOX-related short stature skos:exactMatch OMIM:300582 short stature, idiopathic, X-linked semapv:UnspecifiedMatching MONDO:0010367 SHOX-related short stature skos:exactMatch Orphanet:314795 SHOX-related short stature semapv:UnspecifiedMatching MONDO:0010367 SHOX-related short stature skos:exactMatch SCTID:763868006 semapv:UnspecifiedMatching MONDO:0010367 SHOX-related short stature skos:exactMatch UMLS:C1845118 semapv:UnspecifiedMatching MONDO:0010367 SHOX-related short stature skos:exactMatch mesh:C564479 semapv:UnspecifiedMatching MONDO:0010369 nystagmus 5, congenital, X-linked skos:exactMatch DOID:0111796 congenital nystagmus 5 semapv:UnspecifiedMatching MONDO:0010369 nystagmus 5, congenital, X-linked skos:exactMatch MEDGEN:375583 semapv:UnspecifiedMatching MONDO:0010369 nystagmus 5, congenital, X-linked skos:exactMatch OMIM:300589 nystagmus 5, congenital, X-linked semapv:UnspecifiedMatching MONDO:0010369 nystagmus 5, congenital, X-linked skos:exactMatch UMLS:C1845116 semapv:UnspecifiedMatching MONDO:0010370 Cornelia de Lange syndrome 2 skos:exactMatch DOID:0080506 Cornelia de Lange syndrome 2 semapv:UnspecifiedMatching MONDO:0010370 Cornelia de Lange syndrome 2 skos:exactMatch MEDGEN:315658 semapv:UnspecifiedMatching MONDO:0010370 Cornelia de Lange syndrome 2 skos:exactMatch NCIT:C75485 X-Linked Cornelia De Lange Syndrome semapv:UnspecifiedMatching MONDO:0010370 Cornelia de Lange syndrome 2 skos:exactMatch OMIM:300590 cornelia lange lange syndrome 2 semapv:UnspecifiedMatching MONDO:0010370 Cornelia de Lange syndrome 2 skos:exactMatch UMLS:C1802395 semapv:UnspecifiedMatching MONDO:0010371 Aland island eye disease skos:exactMatch DOID:0050630 Aland Island eye disease semapv:UnspecifiedMatching MONDO:0010371 Aland island eye disease skos:exactMatch MEDGEN:120643 semapv:UnspecifiedMatching MONDO:0010371 Aland island eye disease skos:exactMatch OMIM:300600 aland island eye disease semapv:UnspecifiedMatching MONDO:0010371 Aland island eye disease skos:exactMatch Orphanet:178333 Åland Islands eye disease semapv:UnspecifiedMatching MONDO:0010371 Aland island eye disease skos:exactMatch SCTID:266455006 semapv:UnspecifiedMatching MONDO:0010371 Aland island eye disease skos:exactMatch UMLS:C0268505 semapv:UnspecifiedMatching MONDO:0010371 Aland island eye disease skos:exactMatch mesh:C562664 semapv:UnspecifiedMatching MONDO:0010373 premature ovarian failure 2B skos:exactMatch DOID:0080859 primary ovarian insufficiency 2B semapv:UnspecifiedMatching MONDO:0010373 premature ovarian failure 2B skos:exactMatch MEDGEN:337159 semapv:UnspecifiedMatching MONDO:0010373 premature ovarian failure 2B skos:exactMatch OMIM:300604 premature ovarian failure 2b semapv:UnspecifiedMatching MONDO:0010373 premature ovarian failure 2B skos:exactMatch UMLS:C1845105 semapv:UnspecifiedMatching MONDO:0010373 premature ovarian failure 2B skos:exactMatch mesh:C564476 semapv:UnspecifiedMatching MONDO:0010374 retinitis pigmentosa 34 skos:exactMatch DOID:0110417 retinitis pigmentosa 34 semapv:UnspecifiedMatching MONDO:0010374 retinitis pigmentosa 34 skos:exactMatch MEDGEN:375582 semapv:UnspecifiedMatching MONDO:0010374 retinitis pigmentosa 34 skos:exactMatch OMIM:300605 retinitis pigmentosa 34 semapv:UnspecifiedMatching MONDO:0010374 retinitis pigmentosa 34 skos:exactMatch UMLS:C1845104 semapv:UnspecifiedMatching MONDO:0010374 retinitis pigmentosa 34 skos:exactMatch mesh:C564475 semapv:UnspecifiedMatching MONDO:0010375 developmental and epileptic encephalopathy, 8 skos:exactMatch DOID:0080215 developmental and epileptic encephalopathy 8 semapv:UnspecifiedMatching MONDO:0010375 developmental and epileptic encephalopathy, 8 skos:exactMatch MEDGEN:375581 semapv:UnspecifiedMatching MONDO:0010375 developmental and epileptic encephalopathy, 8 skos:exactMatch OMIM:300607 developmental and epileptic encephalopathy 8 semapv:UnspecifiedMatching MONDO:0010375 developmental and epileptic encephalopathy, 8 skos:exactMatch Orphanet:163985 Hyperekplexia-epilepsy syndrome semapv:UnspecifiedMatching MONDO:0010375 developmental and epileptic encephalopathy, 8 skos:exactMatch UMLS:C1845102 semapv:UnspecifiedMatching MONDO:0010375 developmental and epileptic encephalopathy, 8 skos:exactMatch mesh:C564474 semapv:UnspecifiedMatching MONDO:0010377 myopia 13, X-linked skos:exactMatch MEDGEN:335097 semapv:UnspecifiedMatching MONDO:0010377 myopia 13, X-linked skos:exactMatch OMIM:300613 myopia 13, X-linked semapv:UnspecifiedMatching MONDO:0010377 myopia 13, X-linked skos:exactMatch UMLS:C1845096 semapv:UnspecifiedMatching MONDO:0010377 myopia 13, X-linked skos:exactMatch mesh:C564473 semapv:UnspecifiedMatching MONDO:0010378 X-linked hereditary sensory and autonomic neuropathy with hearing loss skos:exactMatch DOID:0111741 X-linked deafness 5 semapv:UnspecifiedMatching MONDO:0010378 X-linked hereditary sensory and autonomic neuropathy with hearing loss skos:exactMatch MEDGEN:930069 semapv:UnspecifiedMatching MONDO:0010378 X-linked hereditary sensory and autonomic neuropathy with hearing loss skos:exactMatch OMIM:300614 deafness, X-linked 5, with peripheral neuropathy semapv:UnspecifiedMatching MONDO:0010378 X-linked hereditary sensory and autonomic neuropathy with hearing loss skos:exactMatch Orphanet:139583 X-linked hereditary sensory and autonomic neuropathy with deafness semapv:UnspecifiedMatching MONDO:0010378 X-linked hereditary sensory and autonomic neuropathy with hearing loss skos:exactMatch SCTID:719838008 semapv:UnspecifiedMatching MONDO:0010378 X-linked hereditary sensory and autonomic neuropathy with hearing loss skos:exactMatch UMLS:C4304400 semapv:UnspecifiedMatching MONDO:0010378 X-linked hereditary sensory and autonomic neuropathy with hearing loss skos:exactMatch mesh:C564472 semapv:UnspecifiedMatching MONDO:0010379 Brunner syndrome skos:exactMatch DOID:0060693 Brunner Syndrome semapv:UnspecifiedMatching MONDO:0010379 Brunner syndrome skos:exactMatch MEDGEN:208683 semapv:UnspecifiedMatching MONDO:0010379 Brunner syndrome skos:exactMatch OMIM:300615 brunner syndrome semapv:UnspecifiedMatching MONDO:0010379 Brunner syndrome skos:exactMatch Orphanet:3057 Monoamine oxidase A deficiency semapv:UnspecifiedMatching MONDO:0010379 Brunner syndrome skos:exactMatch SCTID:718210003 semapv:UnspecifiedMatching MONDO:0010379 Brunner syndrome skos:exactMatch UMLS:C0796275 semapv:UnspecifiedMatching MONDO:0010379 Brunner syndrome skos:exactMatch mesh:C563156 semapv:UnspecifiedMatching MONDO:0010380 cataract, ataxia, short stature, and intellectual disability skos:exactMatch MEDGEN:375579 semapv:UnspecifiedMatching MONDO:0010380 cataract, ataxia, short stature, and intellectual disability skos:exactMatch OMIM:300619 cataract, ataxia, short stature, and impaired intellectual development semapv:UnspecifiedMatching MONDO:0010380 cataract, ataxia, short stature, and intellectual disability skos:exactMatch UMLS:C1845094 semapv:UnspecifiedMatching MONDO:0010380 cataract, ataxia, short stature, and intellectual disability skos:exactMatch mesh:C535345 semapv:UnspecifiedMatching MONDO:0010381 Tn polyagglutination syndrome skos:exactMatch DOID:0080520 Tn polyagglutination syndrome semapv:UnspecifiedMatching MONDO:0010381 Tn polyagglutination syndrome skos:exactMatch MEDGEN:82896 semapv:UnspecifiedMatching MONDO:0010381 Tn polyagglutination syndrome skos:exactMatch OMIM:300622 tn polyagglutination syndrome semapv:UnspecifiedMatching MONDO:0010381 Tn polyagglutination syndrome skos:exactMatch UMLS:C0272137 semapv:UnspecifiedMatching MONDO:0010381 Tn polyagglutination syndrome skos:exactMatch mesh:C562719 semapv:UnspecifiedMatching MONDO:0010382 fragile X-associated tremor/ataxia syndrome skos:exactMatch DOID:0050879 fragile X-associated tremor/ataxia syndrome semapv:UnspecifiedMatching MONDO:0010382 fragile X-associated tremor/ataxia syndrome skos:exactMatch MEDGEN:333403 semapv:UnspecifiedMatching MONDO:0010382 fragile X-associated tremor/ataxia syndrome skos:exactMatch NCIT:C126566 Fragile X Tremor/Ataxia Syndrome semapv:UnspecifiedMatching MONDO:0010382 fragile X-associated tremor/ataxia syndrome skos:exactMatch OMIM:300623 fragile 10 tremor/ataxia syndrome semapv:UnspecifiedMatching MONDO:0010382 fragile X-associated tremor/ataxia syndrome skos:exactMatch Orphanet:93256 Fragile X-associated tremor/ataxia syndrome semapv:UnspecifiedMatching MONDO:0010382 fragile X-associated tremor/ataxia syndrome skos:exactMatch SCTID:448045004 semapv:UnspecifiedMatching MONDO:0010382 fragile X-associated tremor/ataxia syndrome skos:exactMatch UMLS:C1839780 semapv:UnspecifiedMatching MONDO:0010382 fragile X-associated tremor/ataxia syndrome skos:exactMatch mesh:C564105 semapv:UnspecifiedMatching MONDO:0010383 fragile X syndrome skos:exactMatch DOID:14261 fragile X syndrome semapv:UnspecifiedMatching MONDO:0010383 fragile X syndrome skos:exactMatch MEDGEN:8912 semapv:UnspecifiedMatching MONDO:0010383 fragile X syndrome skos:exactMatch NCIT:C84717 Fragile X Syndrome semapv:UnspecifiedMatching MONDO:0010383 fragile X syndrome skos:exactMatch OMIM:300624 fragile 10 syndrome semapv:UnspecifiedMatching MONDO:0010383 fragile X syndrome skos:exactMatch Orphanet:908 Fragile X syndrome semapv:UnspecifiedMatching MONDO:0010383 fragile X syndrome skos:exactMatch SCTID:613003 semapv:UnspecifiedMatching MONDO:0010383 fragile X syndrome skos:exactMatch UMLS:C0016667 semapv:UnspecifiedMatching MONDO:0010383 fragile X syndrome skos:exactMatch icd11.foundation:1524287677 Fragile X chromosome semapv:UnspecifiedMatching MONDO:0010383 fragile X syndrome skos:exactMatch mesh:D005600 semapv:UnspecifiedMatching MONDO:0010384 hypospadias 1, X-linked skos:exactMatch MEDGEN:394735 semapv:UnspecifiedMatching MONDO:0010384 hypospadias 1, X-linked skos:exactMatch OMIM:300633 hypospadias 1, X-linked semapv:UnspecifiedMatching MONDO:0010384 hypospadias 1, X-linked skos:exactMatch UMLS:C2678098 semapv:UnspecifiedMatching MONDO:0010384 hypospadias 1, X-linked skos:exactMatch mesh:C567482 semapv:UnspecifiedMatching MONDO:0010385 X-linked lymphoproliferative disease due to XIAP deficiency skos:exactMatch DOID:0060706 X-linked lymphoproliferative syndrome 2 semapv:UnspecifiedMatching MONDO:0010385 X-linked lymphoproliferative disease due to XIAP deficiency skos:exactMatch MEDGEN:336848 semapv:UnspecifiedMatching MONDO:0010385 X-linked lymphoproliferative disease due to XIAP deficiency skos:exactMatch NCIT:C126295 X-linked Lymphoproliferative Syndrome 2 semapv:UnspecifiedMatching MONDO:0010385 X-linked lymphoproliferative disease due to XIAP deficiency skos:exactMatch OMIM:300635 lymphoproliferative syndrome, x-linked, 2 semapv:UnspecifiedMatching MONDO:0010385 X-linked lymphoproliferative disease due to XIAP deficiency skos:exactMatch Orphanet:538934 X-linked lymphoproliferative disease due to XIAP deficiency semapv:UnspecifiedMatching MONDO:0010385 X-linked lymphoproliferative disease due to XIAP deficiency skos:exactMatch UMLS:C1845076 semapv:UnspecifiedMatching MONDO:0010385 X-linked lymphoproliferative disease due to XIAP deficiency skos:exactMatch mesh:C564469 semapv:UnspecifiedMatching MONDO:0010386 immunodeficiency 33 skos:exactMatch DOID:0112003 immunodeficiency 33 semapv:UnspecifiedMatching MONDO:0010386 immunodeficiency 33 skos:exactMatch MEDGEN:370376 semapv:UnspecifiedMatching MONDO:0010386 immunodeficiency 33 skos:exactMatch OMIM:300636 immunodeficiency 33 semapv:UnspecifiedMatching MONDO:0010386 immunodeficiency 33 skos:exactMatch UMLS:C1970879 semapv:UnspecifiedMatching MONDO:0010386 immunodeficiency 33 skos:exactMatch mesh:C536289 semapv:UnspecifiedMatching MONDO:0010387 obsolete invasive pneumococcal disease, recurrent isolated, 2 skos:exactMatch OMIM:300640 semapv:UnspecifiedMatching MONDO:0010388 rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked skos:exactMatch MEDGEN:337150 semapv:UnspecifiedMatching MONDO:0010388 rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked skos:exactMatch OMIM:300643 rolandic epilepsy, impaired intellectual development, and speech dyspraxia, X-linked semapv:UnspecifiedMatching MONDO:0010388 rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked skos:exactMatch UMLS:C1845070 semapv:UnspecifiedMatching MONDO:0010388 rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked skos:exactMatch mesh:C564467 semapv:UnspecifiedMatching MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency skos:exactMatch DOID:0112000 immunodeficiency 34 semapv:UnspecifiedMatching MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency skos:exactMatch MEDGEN:370369 semapv:UnspecifiedMatching MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency skos:exactMatch OMIM:300645 immunodeficiency 34 semapv:UnspecifiedMatching MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency skos:exactMatch UMLS:C1970859 semapv:UnspecifiedMatching MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency skos:exactMatch mesh:C567068 semapv:UnspecifiedMatching MONDO:0010390 ocular albinism with late-onset sensorineural deafness skos:exactMatch MEDGEN:337149 semapv:UnspecifiedMatching MONDO:0010390 ocular albinism with late-onset sensorineural deafness skos:exactMatch OMIM:300650 albinism, ocular, with late-onset sensorineural deafness semapv:UnspecifiedMatching MONDO:0010390 ocular albinism with late-onset sensorineural deafness skos:exactMatch Orphanet:1000 Ocular albinism with late-onset sensorineural deafness semapv:UnspecifiedMatching MONDO:0010390 ocular albinism with late-onset sensorineural deafness skos:exactMatch SCTID:722054007 semapv:UnspecifiedMatching MONDO:0010390 ocular albinism with late-onset sensorineural deafness skos:exactMatch UMLS:C1845069 semapv:UnspecifiedMatching MONDO:0010391 angioma serpiginosum, X-linked skos:exactMatch MEDGEN:1648301 semapv:UnspecifiedMatching MONDO:0010391 angioma serpiginosum, X-linked skos:exactMatch OMIM:300652 angioma serpiginosum, X-linked semapv:UnspecifiedMatching MONDO:0010391 angioma serpiginosum, X-linked skos:exactMatch UMLS:C4721404 semapv:UnspecifiedMatching MONDO:0010391 angioma serpiginosum, X-linked skos:exactMatch mesh:C536366 semapv:UnspecifiedMatching MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency skos:exactMatch DOID:0111933 phosphoglycerate kinase 1 deficiency semapv:UnspecifiedMatching MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency skos:exactMatch MEDGEN:410166 semapv:UnspecifiedMatching MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency skos:exactMatch NCIT:C126738 Phosphoglycerate Kinase 1 Deficiency semapv:UnspecifiedMatching MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency skos:exactMatch OMIM:300653 phosphoglycerate kinase 1 deficiency semapv:UnspecifiedMatching MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency skos:exactMatch Orphanet:713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency semapv:UnspecifiedMatching MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency skos:exactMatch UMLS:C1970848 semapv:UnspecifiedMatching MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency skos:exactMatch icd11.foundation:1396572570 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency semapv:UnspecifiedMatching MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency skos:exactMatch mesh:C567067 semapv:UnspecifiedMatching MONDO:0010393 intellectual disability, X-linked 93 skos:exactMatch DOID:0112045 non-syndromic X-linked intellectual disability 93 semapv:UnspecifiedMatching MONDO:0010393 intellectual disability, X-linked 93 skos:exactMatch MEDGEN:410164 semapv:UnspecifiedMatching MONDO:0010393 intellectual disability, X-linked 93 skos:exactMatch OMIM:300659 intellectual developmental disorder, X-linked 93 semapv:UnspecifiedMatching MONDO:0010393 intellectual disability, X-linked 93 skos:exactMatch UMLS:C1970841 semapv:UnspecifiedMatching MONDO:0010393 intellectual disability, X-linked 93 skos:exactMatch mesh:C567066 semapv:UnspecifiedMatching MONDO:0010394 obsolete leukoencephalopathy-metaphyseal chondrodysplasia syndrome skos:exactMatch OMIM:300660 semapv:UnspecifiedMatching MONDO:0010395 phosphoribosylpyrophosphate synthetase superactivity skos:exactMatch DOID:0111260 phosphoribosylpyrophosphate synthetase superactivity semapv:UnspecifiedMatching MONDO:0010395 phosphoribosylpyrophosphate synthetase superactivity skos:exactMatch MEDGEN:370358 semapv:UnspecifiedMatching MONDO:0010395 phosphoribosylpyrophosphate synthetase superactivity skos:exactMatch OMIM:300661 phosphoribosylpyrophosphate synthetase superactivity semapv:UnspecifiedMatching MONDO:0010395 phosphoribosylpyrophosphate synthetase superactivity skos:exactMatch Orphanet:3222 Phosphoribosylpyrophosphate synthetase superactivity semapv:UnspecifiedMatching MONDO:0010395 phosphoribosylpyrophosphate synthetase superactivity skos:exactMatch SCTID:723454008 semapv:UnspecifiedMatching MONDO:0010395 phosphoribosylpyrophosphate synthetase superactivity skos:exactMatch UMLS:C1970827 semapv:UnspecifiedMatching MONDO:0010395 phosphoribosylpyrophosphate synthetase superactivity skos:exactMatch mesh:C567064 semapv:UnspecifiedMatching MONDO:0010396 developmental and epileptic encephalopathy, 2 skos:exactMatch DOID:0080467 developmental and epileptic encephalopathy 2 semapv:UnspecifiedMatching MONDO:0010396 developmental and epileptic encephalopathy, 2 skos:exactMatch MEDGEN:1663579 semapv:UnspecifiedMatching MONDO:0010396 developmental and epileptic encephalopathy, 2 skos:exactMatch OMIM:300672 developmental and epileptic encephalopathy 2 semapv:UnspecifiedMatching MONDO:0010396 developmental and epileptic encephalopathy, 2 skos:exactMatch Orphanet:505652 CDKL5-deficiency disorder semapv:UnspecifiedMatching MONDO:0010396 developmental and epileptic encephalopathy, 2 skos:exactMatch UMLS:C4750718 semapv:UnspecifiedMatching MONDO:0010396 developmental and epileptic encephalopathy, 2 skos:exactMatch mesh:C564064 semapv:UnspecifiedMatching MONDO:0010397 severe neonatal-onset encephalopathy with microcephaly skos:exactMatch DOID:0111932 severe congenital encephalopathy due to MECP2 mutation semapv:UnspecifiedMatching MONDO:0010397 severe neonatal-onset encephalopathy with microcephaly skos:exactMatch MEDGEN:409616 semapv:UnspecifiedMatching MONDO:0010397 severe neonatal-onset encephalopathy with microcephaly skos:exactMatch NCIT:C132293 Severe Neonatal Encephalopathy Due to MECP2 Mutations semapv:UnspecifiedMatching MONDO:0010397 severe neonatal-onset encephalopathy with microcephaly skos:exactMatch OMIM:300673 encephalopathy, neonatal severe, due to mecp2 mutations semapv:UnspecifiedMatching MONDO:0010397 severe neonatal-onset encephalopathy with microcephaly skos:exactMatch Orphanet:209370 MECP2-related severe neonatal encephalopathy semapv:UnspecifiedMatching MONDO:0010397 severe neonatal-onset encephalopathy with microcephaly skos:exactMatch UMLS:C1968556 semapv:UnspecifiedMatching MONDO:0010397 severe neonatal-onset encephalopathy with microcephaly skos:exactMatch icd11.foundation:240602582 Severe neonatal-onset encephalopathy with microcephaly semapv:UnspecifiedMatching MONDO:0010397 severe neonatal-onset encephalopathy with microcephaly skos:exactMatch mesh:C566878 semapv:UnspecifiedMatching MONDO:0010398 syndromic X-linked intellectual disability 14 skos:exactMatch DOID:0060821 syndromic X-linked intellectual disability 14 semapv:UnspecifiedMatching MONDO:0010398 syndromic X-linked intellectual disability 14 skos:exactMatch MEDGEN:372646 semapv:UnspecifiedMatching MONDO:0010398 syndromic X-linked intellectual disability 14 skos:exactMatch OMIM:300676 intellectual developmental disorder, x-linked, syndromic 14 semapv:UnspecifiedMatching MONDO:0010398 syndromic X-linked intellectual disability 14 skos:exactMatch UMLS:C1970822 semapv:UnspecifiedMatching MONDO:0010398 syndromic X-linked intellectual disability 14 skos:exactMatch mesh:C567063 semapv:UnspecifiedMatching MONDO:0010399 chromosome Xp21 deletion syndrome skos:exactMatch DOID:0060427 chromosome Xp21 deletion syndrome semapv:UnspecifiedMatching MONDO:0010399 chromosome Xp21 deletion syndrome skos:exactMatch MEDGEN:1373978 semapv:UnspecifiedMatching MONDO:0010399 chromosome Xp21 deletion syndrome skos:exactMatch OMIM:300679 chromosome xp21 deletion syndrome semapv:UnspecifiedMatching MONDO:0010399 chromosome Xp21 deletion syndrome skos:exactMatch Orphanet:261476 Xp21 deletion syndrome semapv:UnspecifiedMatching MONDO:0010399 chromosome Xp21 deletion syndrome skos:exactMatch SCTID:297257004 semapv:UnspecifiedMatching MONDO:0010399 chromosome Xp21 deletion syndrome skos:exactMatch UMLS:C4505291 semapv:UnspecifiedMatching MONDO:0010400 X-linked scapuloperoneal muscular dystrophy skos:exactMatch MEDGEN:395530 semapv:UnspecifiedMatching MONDO:0010400 X-linked scapuloperoneal muscular dystrophy skos:exactMatch OMIM:300695 scapuloperoneal myopathy, X-linked dominant semapv:UnspecifiedMatching MONDO:0010400 X-linked scapuloperoneal muscular dystrophy skos:exactMatch Orphanet:431272 X-linked scapuloperoneal muscular dystrophy semapv:UnspecifiedMatching MONDO:0010400 X-linked scapuloperoneal muscular dystrophy skos:exactMatch UMLS:C2678061 semapv:UnspecifiedMatching MONDO:0010401 X-linked myopathy with postural muscle atrophy skos:exactMatch DOID:0070251 X-linked Emery-Dreifuss muscular dystrophy 6 semapv:UnspecifiedMatching MONDO:0010401 X-linked myopathy with postural muscle atrophy skos:exactMatch MEDGEN:395525 semapv:UnspecifiedMatching MONDO:0010401 X-linked myopathy with postural muscle atrophy skos:exactMatch OMIM:300696 myopathy, x-linked, with postural muscle atrophy semapv:UnspecifiedMatching MONDO:0010401 X-linked myopathy with postural muscle atrophy skos:exactMatch Orphanet:178461 X-linked myopathy with postural muscle atrophy semapv:UnspecifiedMatching MONDO:0010401 X-linked myopathy with postural muscle atrophy skos:exactMatch UMLS:C2678055 semapv:UnspecifiedMatching MONDO:0010401 X-linked myopathy with postural muscle atrophy skos:exactMatch icd11.foundation:420677690 X-linked myopathy with postural muscle atrophy semapv:UnspecifiedMatching MONDO:0010402 syndromic X-linked intellectual disability 94 skos:exactMatch DOID:0060823 syndromic X-linked intellectual disability 94 semapv:UnspecifiedMatching MONDO:0010402 syndromic X-linked intellectual disability 94 skos:exactMatch MEDGEN:437111 semapv:UnspecifiedMatching MONDO:0010402 syndromic X-linked intellectual disability 94 skos:exactMatch OMIM:300699 intellectual developmental disorder, x-linked, syndromic, wu type semapv:UnspecifiedMatching MONDO:0010402 syndromic X-linked intellectual disability 94 skos:exactMatch Orphanet:364028 X-linked intellectual disability due to GRIA3 mutations semapv:UnspecifiedMatching MONDO:0010402 syndromic X-linked intellectual disability 94 skos:exactMatch UMLS:C2678051 semapv:UnspecifiedMatching MONDO:0010402 syndromic X-linked intellectual disability 94 skos:exactMatch mesh:C567479 semapv:UnspecifiedMatching MONDO:0010403 albinism-hearing loss syndrome skos:exactMatch MEDGEN:375573 semapv:UnspecifiedMatching MONDO:0010403 albinism-hearing loss syndrome skos:exactMatch OMIM:300700 albinism-deafness syndrome semapv:UnspecifiedMatching MONDO:0010403 albinism-hearing loss syndrome skos:exactMatch Orphanet:998 Albinism-deafness syndrome semapv:UnspecifiedMatching MONDO:0010403 albinism-hearing loss syndrome skos:exactMatch SCTID:722285005 semapv:UnspecifiedMatching MONDO:0010403 albinism-hearing loss syndrome skos:exactMatch SCTID:74320008 semapv:UnspecifiedMatching MONDO:0010403 albinism-hearing loss syndrome skos:exactMatch UMLS:C1845068 semapv:UnspecifiedMatching MONDO:0010403 albinism-hearing loss syndrome skos:exactMatch mesh:C537042 semapv:UnspecifiedMatching MONDO:0010404 X-linked non progressive cerebellar ataxia skos:exactMatch DOID:0111833 X-linked spinocerebellar ataxia 5 semapv:UnspecifiedMatching MONDO:0010404 X-linked non progressive cerebellar ataxia skos:exactMatch MEDGEN:394718 semapv:UnspecifiedMatching MONDO:0010404 X-linked non progressive cerebellar ataxia skos:exactMatch OMIM:300703 spinocerebellar ataxia, X-linked 5 semapv:UnspecifiedMatching MONDO:0010404 X-linked non progressive cerebellar ataxia skos:exactMatch Orphanet:314978 X-linked non progressive cerebellar ataxia semapv:UnspecifiedMatching MONDO:0010404 X-linked non progressive cerebellar ataxia skos:exactMatch SCTID:766818009 semapv:UnspecifiedMatching MONDO:0010404 X-linked non progressive cerebellar ataxia skos:exactMatch UMLS:C2678048 semapv:UnspecifiedMatching MONDO:0010404 X-linked non progressive cerebellar ataxia skos:exactMatch mesh:C567478 semapv:UnspecifiedMatching MONDO:0010405 prostate cancer, hereditary, X-linked 2 skos:exactMatch MEDGEN:394426 semapv:UnspecifiedMatching MONDO:0010405 prostate cancer, hereditary, X-linked 2 skos:exactMatch OMIM:300704 prostate cancer, hereditary, X-linked 2 semapv:UnspecifiedMatching MONDO:0010405 prostate cancer, hereditary, X-linked 2 skos:exactMatch UMLS:C2678047 semapv:UnspecifiedMatching MONDO:0010405 prostate cancer, hereditary, X-linked 2 skos:exactMatch mesh:C567477 semapv:UnspecifiedMatching MONDO:0010406 chromosome Xp11.22 duplication syndrome skos:exactMatch DOID:0112037 chromosome Xp11.22 duplication syndrome semapv:UnspecifiedMatching MONDO:0010406 chromosome Xp11.22 duplication syndrome skos:exactMatch MEDGEN:208679 semapv:UnspecifiedMatching MONDO:0010406 chromosome Xp11.22 duplication syndrome skos:exactMatch OMIM:300705 chromosome xp11.22 duplication syndrome semapv:UnspecifiedMatching MONDO:0010406 chromosome Xp11.22 duplication syndrome skos:exactMatch UMLS:C0796238 semapv:UnspecifiedMatching MONDO:0010407 intellectual disability, X-linked syndromic, Turner type skos:exactMatch DOID:0060811 syndromic X-linked intellectual disability Turner type semapv:UnspecifiedMatching MONDO:0010407 intellectual disability, X-linked syndromic, Turner type skos:exactMatch MEDGEN:394425 semapv:UnspecifiedMatching MONDO:0010407 intellectual disability, X-linked syndromic, Turner type skos:exactMatch OMIM:309590 intellectual developmental disorder, x-linked, syndromic, turner type semapv:UnspecifiedMatching MONDO:0010407 intellectual disability, X-linked syndromic, Turner type skos:exactMatch SCTID:725912001 semapv:UnspecifiedMatching MONDO:0010407 intellectual disability, X-linked syndromic, Turner type skos:exactMatch UMLS:C2678046 semapv:UnspecifiedMatching MONDO:0010407 intellectual disability, X-linked syndromic, Turner type skos:exactMatch mesh:C563154 semapv:UnspecifiedMatching MONDO:0010407 intellectual disability, X-linked syndromic, Turner type skos:exactMatch mesh:C567476 semapv:UnspecifiedMatching MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome skos:exactMatch DOID:0111931 syndactyly-telecanthus-anogenital and renal malformations syndrome semapv:UnspecifiedMatching MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome skos:exactMatch MEDGEN:394424 semapv:UnspecifiedMatching MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome skos:exactMatch OMIM:300707 toe syndactyly, telecanthus, and anogenital and renal malformations semapv:UnspecifiedMatching MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome skos:exactMatch Orphanet:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome semapv:UnspecifiedMatching MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome skos:exactMatch SCTID:723581006 semapv:UnspecifiedMatching MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome skos:exactMatch UMLS:C2678045 semapv:UnspecifiedMatching MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome skos:exactMatch mesh:C567475 semapv:UnspecifiedMatching MONDO:0010409 syndromic X-linked intellectual disability Shrimpton type skos:exactMatch DOID:0060813 syndromic X-linked intellectual disability Shrimpton type semapv:UnspecifiedMatching MONDO:0010409 syndromic X-linked intellectual disability Shrimpton type skos:exactMatch MEDGEN:395523 semapv:UnspecifiedMatching MONDO:0010409 syndromic X-linked intellectual disability Shrimpton type skos:exactMatch OMIM:300709 intellectual developmental disorder, x-linked, syndromic 9 semapv:UnspecifiedMatching MONDO:0010409 syndromic X-linked intellectual disability Shrimpton type skos:exactMatch Orphanet:85324 X-linked intellectual disability, Shrimpton type semapv:UnspecifiedMatching MONDO:0010409 syndromic X-linked intellectual disability Shrimpton type skos:exactMatch UMLS:C2678039 semapv:UnspecifiedMatching MONDO:0010409 syndromic X-linked intellectual disability Shrimpton type skos:exactMatch mesh:C567474 semapv:UnspecifiedMatching MONDO:0010410 alopecia, androgenetic, 2 skos:exactMatch MEDGEN:395522 semapv:UnspecifiedMatching MONDO:0010410 alopecia, androgenetic, 2 skos:exactMatch OMIM:300710 alopecia, androgenetic, 2 semapv:UnspecifiedMatching MONDO:0010410 alopecia, androgenetic, 2 skos:exactMatch UMLS:C2678038 semapv:UnspecifiedMatching MONDO:0010410 alopecia, androgenetic, 2 skos:exactMatch mesh:C567473 semapv:UnspecifiedMatching MONDO:0010411 pyloric stenosis, infantile hypertrophic, 4 skos:exactMatch MEDGEN:395521 semapv:UnspecifiedMatching MONDO:0010411 pyloric stenosis, infantile hypertrophic, 4 skos:exactMatch OMIM:300711 pyloric stenosis, infantile hypertrophic, 4 semapv:UnspecifiedMatching MONDO:0010411 pyloric stenosis, infantile hypertrophic, 4 skos:exactMatch UMLS:C2678037 semapv:UnspecifiedMatching MONDO:0010411 pyloric stenosis, infantile hypertrophic, 4 skos:exactMatch mesh:C567472 semapv:UnspecifiedMatching MONDO:0010412 X-linked intellectual disability-craniofacioskeletal syndrome skos:exactMatch MEDGEN:394716 semapv:UnspecifiedMatching MONDO:0010412 X-linked intellectual disability-craniofacioskeletal syndrome skos:exactMatch OMIM:300712 craniofacioskeletal syndrome semapv:UnspecifiedMatching MONDO:0010412 X-linked intellectual disability-craniofacioskeletal syndrome skos:exactMatch Orphanet:163979 X-linked intellectual disability-craniofacioskeletal syndrome semapv:UnspecifiedMatching MONDO:0010412 X-linked intellectual disability-craniofacioskeletal syndrome skos:exactMatch UMLS:C2678036 semapv:UnspecifiedMatching MONDO:0010412 X-linked intellectual disability-craniofacioskeletal syndrome skos:exactMatch mesh:C567471 semapv:UnspecifiedMatching MONDO:0010413 intellectual disability, X-linked 95 skos:exactMatch MEDGEN:394715 semapv:UnspecifiedMatching MONDO:0010413 intellectual disability, X-linked 95 skos:exactMatch OMIM:300716 intellectual developmental disorder, X-linked 95 semapv:UnspecifiedMatching MONDO:0010413 intellectual disability, X-linked 95 skos:exactMatch UMLS:C2678034 semapv:UnspecifiedMatching MONDO:0010413 intellectual disability, X-linked 95 skos:exactMatch mesh:C567470 semapv:UnspecifiedMatching MONDO:0010414 myopathy, reducing body, X-linked, early-onset, severe skos:exactMatch MEDGEN:906731 semapv:UnspecifiedMatching MONDO:0010414 myopathy, reducing body, X-linked, early-onset, severe skos:exactMatch OMIM:300717 reducing body myopathy, X-linked 1a, severe, with infantile or early childhood onset semapv:UnspecifiedMatching MONDO:0010414 myopathy, reducing body, X-linked, early-onset, severe skos:exactMatch UMLS:C4225423 semapv:UnspecifiedMatching MONDO:0010414 myopathy, reducing body, X-linked, early-onset, severe skos:exactMatch mesh:C567469 semapv:UnspecifiedMatching MONDO:0010415 myopathy, reducing body, X-linked, childhood-onset skos:exactMatch DOID:0080687 reducing body myopathy 1B semapv:UnspecifiedMatching MONDO:0010415 myopathy, reducing body, X-linked, childhood-onset skos:exactMatch MEDGEN:904593 semapv:UnspecifiedMatching MONDO:0010415 myopathy, reducing body, X-linked, childhood-onset skos:exactMatch OMIM:300718 reducing body myopathy, X-linked 1b, with late childhood or adult onset semapv:UnspecifiedMatching MONDO:0010415 myopathy, reducing body, X-linked, childhood-onset skos:exactMatch UMLS:C4225159 semapv:UnspecifiedMatching MONDO:0010415 myopathy, reducing body, X-linked, childhood-onset skos:exactMatch mesh:C567468 semapv:UnspecifiedMatching MONDO:0010416 deafness, cataract, retinitis pigmentosa, and sperm abnormalities skos:exactMatch MEDGEN:395517 semapv:UnspecifiedMatching MONDO:0010416 deafness, cataract, retinitis pigmentosa, and sperm abnormalities skos:exactMatch OMIM:300719 deafness, cataract, retinitis pigmentosa, and sperm abnormalities semapv:UnspecifiedMatching MONDO:0010416 deafness, cataract, retinitis pigmentosa, and sperm abnormalities skos:exactMatch UMLS:C2678011 semapv:UnspecifiedMatching MONDO:0010416 deafness, cataract, retinitis pigmentosa, and sperm abnormalities skos:exactMatch mesh:C567467 semapv:UnspecifiedMatching MONDO:0010417 syndromic X-linked intellectual disability Najm type skos:exactMatch DOID:0060807 syndromic X-linked intellectual disability Najm type semapv:UnspecifiedMatching MONDO:0010417 syndromic X-linked intellectual disability Najm type skos:exactMatch MEDGEN:437070 semapv:UnspecifiedMatching MONDO:0010417 syndromic X-linked intellectual disability Najm type skos:exactMatch OMIM:300749 intellectual developmental disorder with microcephaly and pontine and cerebellar hypoplasia semapv:UnspecifiedMatching MONDO:0010417 syndromic X-linked intellectual disability Najm type skos:exactMatch Orphanet:163937 X-linked intellectual disability, Najm type semapv:UnspecifiedMatching MONDO:0010417 syndromic X-linked intellectual disability Najm type skos:exactMatch UMLS:C2677903 semapv:UnspecifiedMatching MONDO:0010417 syndromic X-linked intellectual disability Najm type skos:exactMatch mesh:C567466 semapv:UnspecifiedMatching MONDO:0010418 hereditary spastic paraplegia 34 skos:exactMatch DOID:0110785 hereditary spastic paraplegia 34 semapv:UnspecifiedMatching MONDO:0010418 hereditary spastic paraplegia 34 skos:exactMatch MEDGEN:437069 semapv:UnspecifiedMatching MONDO:0010418 hereditary spastic paraplegia 34 skos:exactMatch OMIM:300750 spastic paraplegia 34, X-linked semapv:UnspecifiedMatching MONDO:0010418 hereditary spastic paraplegia 34 skos:exactMatch Orphanet:171607 X-linked spastic paraplegia type 34 semapv:UnspecifiedMatching MONDO:0010418 hereditary spastic paraplegia 34 skos:exactMatch SCTID:763370008 semapv:UnspecifiedMatching MONDO:0010418 hereditary spastic paraplegia 34 skos:exactMatch UMLS:C2677897 semapv:UnspecifiedMatching MONDO:0010418 hereditary spastic paraplegia 34 skos:exactMatch mesh:C567465 semapv:UnspecifiedMatching MONDO:0010420 X-linked erythropoietic protoporphyria skos:exactMatch MEDGEN:394385 semapv:UnspecifiedMatching MONDO:0010420 X-linked erythropoietic protoporphyria skos:exactMatch OMIM:300752 protoporphyria, erythropoietic, X-linked semapv:UnspecifiedMatching MONDO:0010420 X-linked erythropoietic protoporphyria skos:exactMatch Orphanet:443197 X-linked erythropoietic protoporphyria semapv:UnspecifiedMatching MONDO:0010420 X-linked erythropoietic protoporphyria skos:exactMatch UMLS:C2677889 semapv:UnspecifiedMatching MONDO:0010420 X-linked erythropoietic protoporphyria skos:exactMatch mesh:C567464 semapv:UnspecifiedMatching MONDO:0010421 Bruton-type agammaglobulinemia skos:exactMatch DOID:14179 X-linked agammaglobulinemia semapv:UnspecifiedMatching MONDO:0010421 Bruton-type agammaglobulinemia skos:exactMatch MEDGEN:65123 semapv:UnspecifiedMatching MONDO:0010421 Bruton-type agammaglobulinemia skos:exactMatch NCIT:C3822 X-Linked Agammaglobulinemia semapv:UnspecifiedMatching MONDO:0010421 Bruton-type agammaglobulinemia skos:exactMatch OMIM:300755 agammaglobulinemia, X-linked semapv:UnspecifiedMatching MONDO:0010421 Bruton-type agammaglobulinemia skos:exactMatch Orphanet:47 X-linked agammaglobulinemia semapv:UnspecifiedMatching MONDO:0010421 Bruton-type agammaglobulinemia skos:exactMatch SCTID:65880007 semapv:UnspecifiedMatching MONDO:0010421 Bruton-type agammaglobulinemia skos:exactMatch UMLS:C0221026 semapv:UnspecifiedMatching MONDO:0010421 Bruton-type agammaglobulinemia skos:exactMatch mesh:C537409 semapv:UnspecifiedMatching MONDO:0010422 Alzheimer disease 16 skos:exactMatch DOID:0110036 Alzheimer's disease 16 semapv:UnspecifiedMatching MONDO:0010422 Alzheimer disease 16 skos:exactMatch MEDGEN:394384 semapv:UnspecifiedMatching MONDO:0010422 Alzheimer disease 16 skos:exactMatch OMIM:300756 alzheimer disease 16 semapv:UnspecifiedMatching MONDO:0010422 Alzheimer disease 16 skos:exactMatch UMLS:C2677888 semapv:UnspecifiedMatching MONDO:0010422 Alzheimer disease 16 skos:exactMatch mesh:C567463 semapv:UnspecifiedMatching MONDO:0010423 hypospadias 2, X-linked skos:exactMatch MEDGEN:437064 semapv:UnspecifiedMatching MONDO:0010423 hypospadias 2, X-linked skos:exactMatch OMIM:300758 hypospadias 2, X-linked semapv:UnspecifiedMatching MONDO:0010423 hypospadias 2, X-linked skos:exactMatch UMLS:C2677879 semapv:UnspecifiedMatching MONDO:0010423 hypospadias 2, X-linked skos:exactMatch mesh:C567462 semapv:UnspecifiedMatching MONDO:0010424 surfactant metabolism dysfunction, pulmonary, 4 skos:exactMatch MEDGEN:393858 semapv:UnspecifiedMatching MONDO:0010424 surfactant metabolism dysfunction, pulmonary, 4 skos:exactMatch OMIM:300770 surfactant metabolism dysfunction, pulmonary, 4 semapv:UnspecifiedMatching MONDO:0010424 surfactant metabolism dysfunction, pulmonary, 4 skos:exactMatch UMLS:C2677877 semapv:UnspecifiedMatching MONDO:0010424 surfactant metabolism dysfunction, pulmonary, 4 skos:exactMatch mesh:C567461 semapv:UnspecifiedMatching MONDO:0010425 Lisch epithelial corneal dystrophy skos:exactMatch DOID:0060450 Lisch epithelial corneal dystrophy semapv:UnspecifiedMatching MONDO:0010425 Lisch epithelial corneal dystrophy skos:exactMatch MEDGEN:411737 semapv:UnspecifiedMatching MONDO:0010425 Lisch epithelial corneal dystrophy skos:exactMatch OMIM:620763 corneal dystrophy, lisch epithelial semapv:UnspecifiedMatching MONDO:0010425 Lisch epithelial corneal dystrophy skos:exactMatch Orphanet:98955 Lisch epithelial corneal dystrophy semapv:UnspecifiedMatching MONDO:0010425 Lisch epithelial corneal dystrophy skos:exactMatch SCTID:724175002 semapv:UnspecifiedMatching MONDO:0010425 Lisch epithelial corneal dystrophy skos:exactMatch UMLS:C2749050 semapv:UnspecifiedMatching MONDO:0010425 Lisch epithelial corneal dystrophy skos:exactMatch icd11.foundation:1571503165 Lisch epithelial corneal dystrophy semapv:UnspecifiedMatching MONDO:0010425 Lisch epithelial corneal dystrophy skos:exactMatch mesh:C567588 semapv:UnspecifiedMatching MONDO:0010426 X-linked endothelial corneal dystrophy skos:exactMatch DOID:0060446 X-linked endothelial corneal dystrophy semapv:UnspecifiedMatching MONDO:0010426 X-linked endothelial corneal dystrophy skos:exactMatch MEDGEN:413518 semapv:UnspecifiedMatching MONDO:0010426 X-linked endothelial corneal dystrophy skos:exactMatch OMIM:300779 corneal dystrophy, endothelial, X-linked semapv:UnspecifiedMatching MONDO:0010426 X-linked endothelial corneal dystrophy skos:exactMatch Orphanet:293621 X-linked endothelial corneal dystrophy semapv:UnspecifiedMatching MONDO:0010426 X-linked endothelial corneal dystrophy skos:exactMatch SCTID:718579008 semapv:UnspecifiedMatching MONDO:0010426 X-linked endothelial corneal dystrophy skos:exactMatch UMLS:C2749049 semapv:UnspecifiedMatching MONDO:0010426 X-linked endothelial corneal dystrophy skos:exactMatch icd11.foundation:1842066261 X-linked endothelial corneal dystrophy semapv:UnspecifiedMatching MONDO:0010426 X-linked endothelial corneal dystrophy skos:exactMatch mesh:C567587 semapv:UnspecifiedMatching MONDO:0010427 syndromic X-linked intellectual disability Raymond type skos:exactMatch DOID:0060824 syndromic X-linked intellectual disability Raymond type semapv:UnspecifiedMatching MONDO:0010427 syndromic X-linked intellectual disability Raymond type skos:exactMatch MEDGEN:477037 semapv:UnspecifiedMatching MONDO:0010427 syndromic X-linked intellectual disability Raymond type skos:exactMatch OMIM:300799 intellectual developmental disorder, x-linked, syndromic, raymond type semapv:UnspecifiedMatching MONDO:0010427 syndromic X-linked intellectual disability Raymond type skos:exactMatch UMLS:C3275406 semapv:UnspecifiedMatching MONDO:0010428 chromosome Xp11.23-p11.22 duplication syndrome skos:exactMatch DOID:0060461 chromosome Xp11.23-p11.22 duplication syndrome semapv:UnspecifiedMatching MONDO:0010428 chromosome Xp11.23-p11.22 duplication syndrome skos:exactMatch MEDGEN:440690 semapv:UnspecifiedMatching MONDO:0010428 chromosome Xp11.23-p11.22 duplication syndrome skos:exactMatch OMIM:300801 chromosome xp11.23-p11.22 duplication syndrome semapv:UnspecifiedMatching MONDO:0010428 chromosome Xp11.23-p11.22 duplication syndrome skos:exactMatch Orphanet:217377 Microduplication Xp11.22p11.23 syndrome semapv:UnspecifiedMatching MONDO:0010428 chromosome Xp11.23-p11.22 duplication syndrome skos:exactMatch SCTID:721881008 semapv:UnspecifiedMatching MONDO:0010428 chromosome Xp11.23-p11.22 duplication syndrome skos:exactMatch UMLS:C2749022 semapv:UnspecifiedMatching MONDO:0010428 chromosome Xp11.23-p11.22 duplication syndrome skos:exactMatch mesh:C567585 semapv:UnspecifiedMatching MONDO:0010429 intellectual disability, X-linked 96 skos:exactMatch DOID:0112035 non-syndromic X-linked intellectual disability 96 semapv:UnspecifiedMatching MONDO:0010429 intellectual disability, X-linked 96 skos:exactMatch MEDGEN:477039 semapv:UnspecifiedMatching MONDO:0010429 intellectual disability, X-linked 96 skos:exactMatch OMIM:300802 intellectual developmental disorder, X-linked 96 semapv:UnspecifiedMatching MONDO:0010429 intellectual disability, X-linked 96 skos:exactMatch UMLS:C3275408 semapv:UnspecifiedMatching MONDO:0010430 intellectual disability, X-linked 97 skos:exactMatch DOID:0112046 non-syndromic X-linked intellectual disability 97 semapv:UnspecifiedMatching MONDO:0010430 intellectual disability, X-linked 97 skos:exactMatch MEDGEN:440689 semapv:UnspecifiedMatching MONDO:0010430 intellectual disability, X-linked 97 skos:exactMatch OMIM:300803 intellectual developmental disorder, X-linked 97 semapv:UnspecifiedMatching MONDO:0010430 intellectual disability, X-linked 97 skos:exactMatch UMLS:C2749020 semapv:UnspecifiedMatching MONDO:0010430 intellectual disability, X-linked 97 skos:exactMatch mesh:C567583 semapv:UnspecifiedMatching MONDO:0010431 Joubert syndrome 10 skos:exactMatch DOID:0110981 Joubert syndrome 10 semapv:UnspecifiedMatching MONDO:0010431 Joubert syndrome 10 skos:exactMatch MEDGEN:440688 semapv:UnspecifiedMatching MONDO:0010431 Joubert syndrome 10 skos:exactMatch OMIM:300804 joubert syndrome 10 semapv:UnspecifiedMatching MONDO:0010431 Joubert syndrome 10 skos:exactMatch UMLS:C2749019 semapv:UnspecifiedMatching MONDO:0010431 Joubert syndrome 10 skos:exactMatch mesh:C567582 semapv:UnspecifiedMatching MONDO:0010432 thrombophilia, X-linked, due to factor 9 defect skos:exactMatch DOID:0111899 X-linked thrombophilia due to factor IX defect semapv:UnspecifiedMatching MONDO:0010432 thrombophilia, X-linked, due to factor 9 defect skos:exactMatch MEDGEN:411730 semapv:UnspecifiedMatching MONDO:0010432 thrombophilia, X-linked, due to factor 9 defect skos:exactMatch OMIM:300807 thrombophilia, x-linked, due to factor 9 defect semapv:UnspecifiedMatching MONDO:0010432 thrombophilia, X-linked, due to factor 9 defect skos:exactMatch UMLS:C2749016 semapv:UnspecifiedMatching MONDO:0010432 thrombophilia, X-linked, due to factor 9 defect skos:exactMatch mesh:C567581 semapv:UnspecifiedMatching MONDO:0010433 systemic lupus erythematosus, susceptibility to, 15 skos:exactMatch MEDGEN:440686 semapv:UnspecifiedMatching MONDO:0010433 systemic lupus erythematosus, susceptibility to, 15 skos:exactMatch OMIM:300809 systemic lupus erythematosus, susceptibility to, 15 semapv:UnspecifiedMatching MONDO:0010433 systemic lupus erythematosus, susceptibility to, 15 skos:exactMatch UMLS:C2749008 semapv:UnspecifiedMatching MONDO:0010434 synovial sarcoma skos:exactMatch DOID:5485 synovial sarcoma semapv:UnspecifiedMatching MONDO:0010434 synovial sarcoma skos:exactMatch EFO:0001376 semapv:UnspecifiedMatching MONDO:0010434 synovial sarcoma skos:exactMatch MEDGEN:21050 semapv:UnspecifiedMatching MONDO:0010434 synovial sarcoma skos:exactMatch NCIT:C3400 Synovial Sarcoma semapv:UnspecifiedMatching MONDO:0010434 synovial sarcoma skos:exactMatch OMIM:300813 sarcoma, synovial semapv:UnspecifiedMatching MONDO:0010434 synovial sarcoma skos:exactMatch Orphanet:3273 Synovial sarcoma semapv:UnspecifiedMatching MONDO:0010434 synovial sarcoma skos:exactMatch SCTID:302851001 semapv:UnspecifiedMatching MONDO:0010434 synovial sarcoma skos:exactMatch UMLS:C0039101 semapv:UnspecifiedMatching MONDO:0010434 synovial sarcoma skos:exactMatch mesh:D013584 semapv:UnspecifiedMatching MONDO:0010435 nystagmus 6, congenital, X-linked skos:exactMatch DOID:0111795 congenital nystagmus 6 semapv:UnspecifiedMatching MONDO:0010435 nystagmus 6, congenital, X-linked skos:exactMatch MEDGEN:463102 semapv:UnspecifiedMatching MONDO:0010435 nystagmus 6, congenital, X-linked skos:exactMatch OMIM:300814 nystagmus 6, congenital, X-linked semapv:UnspecifiedMatching MONDO:0010435 nystagmus 6, congenital, X-linked skos:exactMatch UMLS:C3151752 semapv:UnspecifiedMatching MONDO:0010436 chromosome Xq28 duplication syndrome skos:exactMatch MEDGEN:411727 semapv:UnspecifiedMatching MONDO:0010436 chromosome Xq28 duplication syndrome skos:exactMatch OMIM:300815 chromosome xq28 duplication syndrome semapv:UnspecifiedMatching MONDO:0010436 chromosome Xq28 duplication syndrome skos:exactMatch UMLS:C2749007 semapv:UnspecifiedMatching MONDO:0010436 chromosome Xq28 duplication syndrome skos:exactMatch mesh:C567580 semapv:UnspecifiedMatching MONDO:0010437 severe X-linked mitochondrial encephalomyopathy skos:exactMatch DOID:0111502 combined oxidative phosphorylation deficiency 6 semapv:UnspecifiedMatching MONDO:0010437 severe X-linked mitochondrial encephalomyopathy skos:exactMatch MEDGEN:463103 semapv:UnspecifiedMatching MONDO:0010437 severe X-linked mitochondrial encephalomyopathy skos:exactMatch OMIM:300816 combined oxidative phosphorylation deficiency 6 semapv:UnspecifiedMatching MONDO:0010437 severe X-linked mitochondrial encephalomyopathy skos:exactMatch Orphanet:238329 Severe X-linked mitochondrial encephalomyopathy semapv:UnspecifiedMatching MONDO:0010437 severe X-linked mitochondrial encephalomyopathy skos:exactMatch SCTID:722212004 semapv:UnspecifiedMatching MONDO:0010437 severe X-linked mitochondrial encephalomyopathy skos:exactMatch UMLS:C3151753 semapv:UnspecifiedMatching MONDO:0010438 paroxysmal nocturnal hemoglobinuria 1 skos:exactMatch MEDGEN:813000 semapv:UnspecifiedMatching MONDO:0010438 paroxysmal nocturnal hemoglobinuria 1 skos:exactMatch OMIM:300818 paroxysmal nocturnal hemoglobinuria 1 semapv:UnspecifiedMatching MONDO:0010438 paroxysmal nocturnal hemoglobinuria 1 skos:exactMatch UMLS:C3806670 semapv:UnspecifiedMatching MONDO:0010439 cardiomyopathy, fatal fetal, due to myocardial calcification skos:exactMatch MEDGEN:340013 semapv:UnspecifiedMatching MONDO:0010439 cardiomyopathy, fatal fetal, due to myocardial calcification skos:exactMatch OMIM:300829 cardiomyopathy, fatal fetal, due to myocardial calcification semapv:UnspecifiedMatching MONDO:0010439 cardiomyopathy, fatal fetal, due to myocardial calcification skos:exactMatch UMLS:C1853577 semapv:UnspecifiedMatching MONDO:0010439 cardiomyopathy, fatal fetal, due to myocardial calcification skos:exactMatch mesh:C543241 semapv:UnspecifiedMatching MONDO:0010440 autism, susceptibility to, X-linked 4 skos:exactMatch MEDGEN:162886 semapv:UnspecifiedMatching MONDO:0010440 autism, susceptibility to, X-linked 4 skos:exactMatch OMIM:300830 autism, susceptibility to, X-linked 4 semapv:UnspecifiedMatching MONDO:0010440 autism, susceptibility to, X-linked 4 skos:exactMatch UMLS:C0795888 semapv:UnspecifiedMatching MONDO:0010441 CK syndrome skos:exactMatch DOID:0111898 CK syndrome semapv:UnspecifiedMatching MONDO:0010441 CK syndrome skos:exactMatch MEDGEN:463131 semapv:UnspecifiedMatching MONDO:0010441 CK syndrome skos:exactMatch OMIM:300831 ck syndrome semapv:UnspecifiedMatching MONDO:0010441 CK syndrome skos:exactMatch Orphanet:251383 CK syndrome semapv:UnspecifiedMatching MONDO:0010441 CK syndrome skos:exactMatch UMLS:C3151781 semapv:UnspecifiedMatching MONDO:0010442 46,XX sex reversal 3 skos:exactMatch DOID:0111762 46,XX sex reversal 3 semapv:UnspecifiedMatching MONDO:0010442 46,XX sex reversal 3 skos:exactMatch MEDGEN:463132 semapv:UnspecifiedMatching MONDO:0010442 46,XX sex reversal 3 skos:exactMatch OMIM:300833 46,xx sex reversal 3 semapv:UnspecifiedMatching MONDO:0010442 46,XX sex reversal 3 skos:exactMatch UMLS:C3151782 semapv:UnspecifiedMatching MONDO:0010443 macular degeneration, X-linked atrophic skos:exactMatch DOID:0112157 X-linked atrophic macular degeneration semapv:UnspecifiedMatching MONDO:0010443 macular degeneration, X-linked atrophic skos:exactMatch MEDGEN:463134 semapv:UnspecifiedMatching MONDO:0010443 macular degeneration, X-linked atrophic skos:exactMatch OMIM:300834 macular degeneration, atrophic, X-linked semapv:UnspecifiedMatching MONDO:0010443 macular degeneration, X-linked atrophic skos:exactMatch UMLS:C3151784 semapv:UnspecifiedMatching MONDO:0010444 X-linked dyserythropoetic anemia with abnormal platelets and neutropenia skos:exactMatch DOID:0112156 X-linked dyserythropoietic anemia semapv:UnspecifiedMatching MONDO:0010444 X-linked dyserythropoetic anemia with abnormal platelets and neutropenia skos:exactMatch MEDGEN:763770 semapv:UnspecifiedMatching MONDO:0010444 X-linked dyserythropoetic anemia with abnormal platelets and neutropenia skos:exactMatch OMIM:300835 anemia, x-linked, with or without neutropenia and/or platelet abnormalities semapv:UnspecifiedMatching MONDO:0010444 X-linked dyserythropoetic anemia with abnormal platelets and neutropenia skos:exactMatch Orphanet:363727 X-linked dyserythropoietic anemia with abnormal platelets and neutropenia semapv:UnspecifiedMatching MONDO:0010444 X-linked dyserythropoetic anemia with abnormal platelets and neutropenia skos:exactMatch UMLS:C3550856 semapv:UnspecifiedMatching MONDO:0010446 X-linked cone dysfunction syndrome with myopia skos:exactMatch MEDGEN:463611 semapv:UnspecifiedMatching MONDO:0010446 X-linked cone dysfunction syndrome with myopia skos:exactMatch OMIM:300843 bornholm eye disease semapv:UnspecifiedMatching MONDO:0010446 X-linked cone dysfunction syndrome with myopia skos:exactMatch Orphanet:90001 X-linked cone dysfunction syndrome with myopia semapv:UnspecifiedMatching MONDO:0010446 X-linked cone dysfunction syndrome with myopia skos:exactMatch SCTID:718718009 semapv:UnspecifiedMatching MONDO:0010446 X-linked cone dysfunction syndrome with myopia skos:exactMatch UMLS:C3159311 semapv:UnspecifiedMatching MONDO:0010446 X-linked cone dysfunction syndrome with myopia skos:exactMatch icd11.foundation:290885874 X-linked cone dysfunction syndrome with myopia semapv:UnspecifiedMatching MONDO:0010446 X-linked cone dysfunction syndrome with myopia skos:exactMatch mesh:C564092 semapv:UnspecifiedMatching MONDO:0010447 intellectual disability, X-linked 19 skos:exactMatch DOID:0112019 non-syndromic X-linked intellectual disability 19 semapv:UnspecifiedMatching MONDO:0010447 intellectual disability, X-linked 19 skos:exactMatch MEDGEN:208676 semapv:UnspecifiedMatching MONDO:0010447 intellectual disability, X-linked 19 skos:exactMatch OMIM:300844 intellectual developmental disorder, X-linked 19 semapv:UnspecifiedMatching MONDO:0010447 intellectual disability, X-linked 19 skos:exactMatch UMLS:C0796225 semapv:UnspecifiedMatching MONDO:0010447 intellectual disability, X-linked 19 skos:exactMatch mesh:C563141 semapv:UnspecifiedMatching MONDO:0010448 moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome skos:exactMatch MEDGEN:463207 semapv:UnspecifiedMatching MONDO:0010448 moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome skos:exactMatch OMIM:300845 moyamoya disease 4 with short stature, hypergonadotropic hypogonadism, and facial dysmorphism semapv:UnspecifiedMatching MONDO:0010448 moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome skos:exactMatch Orphanet:280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome semapv:UnspecifiedMatching MONDO:0010448 moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome skos:exactMatch UMLS:C3151857 semapv:UnspecifiedMatching MONDO:0010448 moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome skos:exactMatch icd11.foundation:673174743 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome semapv:UnspecifiedMatching MONDO:0010449 autism, susceptibility to, X-linked 5 skos:exactMatch MEDGEN:477069 semapv:UnspecifiedMatching MONDO:0010449 autism, susceptibility to, X-linked 5 skos:exactMatch OMIM:300847 autism, susceptibility to, X-linked 5 semapv:UnspecifiedMatching MONDO:0010449 autism, susceptibility to, X-linked 5 skos:exactMatch UMLS:C3275438 semapv:UnspecifiedMatching MONDO:0010450 intellectual disability, X-linked 89 skos:exactMatch DOID:0112031 non-syndromic X-linked intellectual disability 89 semapv:UnspecifiedMatching MONDO:0010450 intellectual disability, X-linked 89 skos:exactMatch MEDGEN:333247 semapv:UnspecifiedMatching MONDO:0010450 intellectual disability, X-linked 89 skos:exactMatch OMIM:300848 intellectual developmental disorder, X-linked 89 semapv:UnspecifiedMatching MONDO:0010450 intellectual disability, X-linked 89 skos:exactMatch UMLS:C1839082 semapv:UnspecifiedMatching MONDO:0010450 intellectual disability, X-linked 89 skos:exactMatch mesh:C564036 semapv:UnspecifiedMatching MONDO:0010451 intellectual disability, X-linked 41 skos:exactMatch DOID:0112058 non-syndromic X-linked intellectual disability 41 semapv:UnspecifiedMatching MONDO:0010451 intellectual disability, X-linked 41 skos:exactMatch MEDGEN:854647 semapv:UnspecifiedMatching MONDO:0010451 intellectual disability, X-linked 41 skos:exactMatch OMIM:300849 intellectual developmental disorder, X-linked 41 semapv:UnspecifiedMatching MONDO:0010451 intellectual disability, X-linked 41 skos:exactMatch UMLS:C3887939 semapv:UnspecifiedMatching MONDO:0010452 intellectual disability, X-linked 90 skos:exactMatch DOID:0112041 non-syndromic X-linked intellectual disability 90 semapv:UnspecifiedMatching MONDO:0010452 intellectual disability, X-linked 90 skos:exactMatch MEDGEN:477074 semapv:UnspecifiedMatching MONDO:0010452 intellectual disability, X-linked 90 skos:exactMatch OMIM:300850 intellectual developmental disorder, X-linked 90 semapv:UnspecifiedMatching MONDO:0010452 intellectual disability, X-linked 90 skos:exactMatch UMLS:C3275443 semapv:UnspecifiedMatching MONDO:0010453 intellectual disability, X-linked 92 skos:exactMatch DOID:0112032 non-syndromic X-linked intellectual disability 92 semapv:UnspecifiedMatching MONDO:0010453 intellectual disability, X-linked 92 skos:exactMatch MEDGEN:335109 semapv:UnspecifiedMatching MONDO:0010453 intellectual disability, X-linked 92 skos:exactMatch OMIM:300851 intellectual developmental disorder, X-linked 92 semapv:UnspecifiedMatching MONDO:0010453 intellectual disability, X-linked 92 skos:exactMatch UMLS:C1845144 semapv:UnspecifiedMatching MONDO:0010453 intellectual disability, X-linked 92 skos:exactMatch mesh:C564483 semapv:UnspecifiedMatching MONDO:0010454 intellectual disability, X-linked 88 skos:exactMatch DOID:0112053 non-syndromic X-linked intellectual disability 88 semapv:UnspecifiedMatching MONDO:0010454 intellectual disability, X-linked 88 skos:exactMatch MEDGEN:477075 semapv:UnspecifiedMatching MONDO:0010454 intellectual disability, X-linked 88 skos:exactMatch OMIM:300852 intellectual developmental disorder, X-linked 88 semapv:UnspecifiedMatching MONDO:0010454 intellectual disability, X-linked 88 skos:exactMatch UMLS:C3275444 semapv:UnspecifiedMatching MONDO:0010455 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia skos:exactMatch DOID:0080319 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia semapv:UnspecifiedMatching MONDO:0010455 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia skos:exactMatch MEDGEN:477076 semapv:UnspecifiedMatching MONDO:0010455 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia skos:exactMatch NCIT:C126336 X-Linked Immunodeficiency with Magnesium Defect, Epstein-Barr Virus Infection and Neoplasia semapv:UnspecifiedMatching MONDO:0010455 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia skos:exactMatch OMIM:300853 immunodeficiency, x-linked, with magnesium defect, epstein-barr virus infection, and neoplasia semapv:UnspecifiedMatching MONDO:0010455 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia skos:exactMatch Orphanet:317476 XMEN semapv:UnspecifiedMatching MONDO:0010455 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia skos:exactMatch SCTID:711481001 semapv:UnspecifiedMatching MONDO:0010455 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia skos:exactMatch UMLS:C3275445 semapv:UnspecifiedMatching MONDO:0010456 renal cell carcinoma, Xp11-associated skos:exactMatch MEDGEN:477077 semapv:UnspecifiedMatching MONDO:0010456 renal cell carcinoma, Xp11-associated skos:exactMatch OMIM:300854 renal cell carcinoma, xp11-associated semapv:UnspecifiedMatching MONDO:0010456 renal cell carcinoma, Xp11-associated skos:exactMatch UMLS:C3275446 semapv:UnspecifiedMatching MONDO:0010457 Ogden syndrome skos:exactMatch DOID:0050781 Ogden syndrome semapv:UnspecifiedMatching MONDO:0010457 Ogden syndrome skos:exactMatch MEDGEN:477078 semapv:UnspecifiedMatching MONDO:0010457 Ogden syndrome skos:exactMatch NCIT:C188215 Ogden Syndrome semapv:UnspecifiedMatching MONDO:0010457 Ogden syndrome skos:exactMatch OMIM:300855 ogden syndrome semapv:UnspecifiedMatching MONDO:0010457 Ogden syndrome skos:exactMatch Orphanet:276432 Ogden syndrome semapv:UnspecifiedMatching MONDO:0010457 Ogden syndrome skos:exactMatch UMLS:C3275447 semapv:UnspecifiedMatching MONDO:0010457 Ogden syndrome skos:exactMatch mesh:C536107 semapv:UnspecifiedMatching MONDO:0010458 hypospadias 4, X-linked skos:exactMatch MEDGEN:477089 semapv:UnspecifiedMatching MONDO:0010458 hypospadias 4, X-linked skos:exactMatch OMIM:300856 hypospadias 4, x-linked, susceptibility to semapv:UnspecifiedMatching MONDO:0010458 hypospadias 4, X-linked skos:exactMatch UMLS:C3275458 semapv:UnspecifiedMatching MONDO:0010459 amyotrophic lateral sclerosis type 15 skos:exactMatch DOID:0060206 amyotrophic lateral sclerosis type 15 semapv:UnspecifiedMatching MONDO:0010459 amyotrophic lateral sclerosis type 15 skos:exactMatch MEDGEN:477090 semapv:UnspecifiedMatching MONDO:0010459 amyotrophic lateral sclerosis type 15 skos:exactMatch OMIM:300857 amyotrophic lateral sclerosis 15 with or without frontotemporal dementia semapv:UnspecifiedMatching MONDO:0010459 amyotrophic lateral sclerosis type 15 skos:exactMatch UMLS:C3275459 semapv:UnspecifiedMatching MONDO:0010460 syndromic X-linked intellectual disability 17 skos:exactMatch DOID:0060803 syndromic X-linked intellectual disability 17 semapv:UnspecifiedMatching MONDO:0010460 syndromic X-linked intellectual disability 17 skos:exactMatch MEDGEN:477091 semapv:UnspecifiedMatching MONDO:0010460 syndromic X-linked intellectual disability 17 skos:exactMatch OMIM:300858 intellectual developmental disorder, x-linked, syndromic 17 semapv:UnspecifiedMatching MONDO:0010460 syndromic X-linked intellectual disability 17 skos:exactMatch Orphanet:289483 Intellectual disability-alacrima-achalasia syndrome semapv:UnspecifiedMatching MONDO:0010460 syndromic X-linked intellectual disability 17 skos:exactMatch UMLS:C3275460 semapv:UnspecifiedMatching MONDO:0010461 syndromic X-linked intellectual disability Nascimento type skos:exactMatch DOID:0060820 syndromic X-linked intellectual disability Nascimento type semapv:UnspecifiedMatching MONDO:0010461 syndromic X-linked intellectual disability Nascimento type skos:exactMatch MEDGEN:477095 semapv:UnspecifiedMatching MONDO:0010461 syndromic X-linked intellectual disability Nascimento type skos:exactMatch OMIM:300860 intellectual developmental disorder, x-linked, syndromic, nascimento type semapv:UnspecifiedMatching MONDO:0010461 syndromic X-linked intellectual disability Nascimento type skos:exactMatch Orphanet:163956 X-linked intellectual disability, Nascimento type semapv:UnspecifiedMatching MONDO:0010461 syndromic X-linked intellectual disability Nascimento type skos:exactMatch UMLS:C3275464 semapv:UnspecifiedMatching MONDO:0010462 syndromic X-linked intellectual disability Chudley-Schwartz type skos:exactMatch DOID:0060819 syndromic X-linked intellectual disability Chudley-Schwartz type semapv:UnspecifiedMatching MONDO:0010462 syndromic X-linked intellectual disability Chudley-Schwartz type skos:exactMatch MEDGEN:477102 semapv:UnspecifiedMatching MONDO:0010462 syndromic X-linked intellectual disability Chudley-Schwartz type skos:exactMatch OMIM:300861 intellectual developmental disorder, x-linked, syndromic, chudley-schwartz type semapv:UnspecifiedMatching MONDO:0010462 syndromic X-linked intellectual disability Chudley-Schwartz type skos:exactMatch UMLS:C3275471 semapv:UnspecifiedMatching MONDO:0010463 X-linked dominant chondrodysplasia, Chassaing-Lacombe type skos:exactMatch DOID:0112106 chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia semapv:UnspecifiedMatching MONDO:0010463 X-linked dominant chondrodysplasia, Chassaing-Lacombe type skos:exactMatch MEDGEN:477107 semapv:UnspecifiedMatching MONDO:0010463 X-linked dominant chondrodysplasia, Chassaing-Lacombe type skos:exactMatch OMIM:300863 chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia semapv:UnspecifiedMatching MONDO:0010463 X-linked dominant chondrodysplasia, Chassaing-Lacombe type skos:exactMatch Orphanet:163966 X-linked dominant chondrodysplasia, Chassaing-Lacombe type semapv:UnspecifiedMatching MONDO:0010463 X-linked dominant chondrodysplasia, Chassaing-Lacombe type skos:exactMatch SCTID:719837003 semapv:UnspecifiedMatching MONDO:0010463 X-linked dominant chondrodysplasia, Chassaing-Lacombe type skos:exactMatch UMLS:C3275476 semapv:UnspecifiedMatching MONDO:0010464 X-linked cerebral-cerebellar-coloboma syndrome syndrome skos:exactMatch MEDGEN:477118 semapv:UnspecifiedMatching MONDO:0010464 X-linked cerebral-cerebellar-coloboma syndrome syndrome skos:exactMatch OMIM:300864 cerebral-cerebellar-coloboma syndrome, X-linked semapv:UnspecifiedMatching MONDO:0010464 X-linked cerebral-cerebellar-coloboma syndrome syndrome skos:exactMatch Orphanet:163961 X-linked cerebral-cerebellar-coloboma syndrome semapv:UnspecifiedMatching MONDO:0010464 X-linked cerebral-cerebellar-coloboma syndrome syndrome skos:exactMatch UMLS:C3275487 semapv:UnspecifiedMatching MONDO:0010465 Kabuki syndrome 2 skos:exactMatch MEDGEN:477126 semapv:UnspecifiedMatching MONDO:0010465 Kabuki syndrome 2 skos:exactMatch OMIM:300867 kabuki syndrome 2 semapv:UnspecifiedMatching MONDO:0010465 Kabuki syndrome 2 skos:exactMatch UMLS:C3275495 semapv:UnspecifiedMatching MONDO:0010466 multiple congenital anomalies-hypotonia-seizures syndrome 2 skos:exactMatch DOID:0080139 multiple congenital anomalies-hypotonia-seizures syndrome 2 semapv:UnspecifiedMatching MONDO:0010466 multiple congenital anomalies-hypotonia-seizures syndrome 2 skos:exactMatch MEDGEN:477139 semapv:UnspecifiedMatching MONDO:0010466 multiple congenital anomalies-hypotonia-seizures syndrome 2 skos:exactMatch OMIM:300868 multiple congenital anomalies-hypotonia-seizures syndrome 2 semapv:UnspecifiedMatching MONDO:0010466 multiple congenital anomalies-hypotonia-seizures syndrome 2 skos:exactMatch Orphanet:300496 Multiple congenital anomalies-hypotonia-seizures syndrome type 2 semapv:UnspecifiedMatching MONDO:0010466 multiple congenital anomalies-hypotonia-seizures syndrome 2 skos:exactMatch UMLS:C3275508 semapv:UnspecifiedMatching MONDO:0010467 Xq27.3q28 duplication syndrome skos:exactMatch MEDGEN:477152 semapv:UnspecifiedMatching MONDO:0010467 Xq27.3q28 duplication syndrome skos:exactMatch OMIM:300869 chromosome xq27.3-q28 duplication syndrome semapv:UnspecifiedMatching MONDO:0010467 Xq27.3q28 duplication syndrome skos:exactMatch Orphanet:261483 Xq27.3q28 duplication syndrome semapv:UnspecifiedMatching MONDO:0010467 Xq27.3q28 duplication syndrome skos:exactMatch UMLS:C3275521 semapv:UnspecifiedMatching MONDO:0010468 aneurysm, intracranial berry, 5 skos:exactMatch DOID:0080968 intracranial berry aneurysm 5 semapv:UnspecifiedMatching MONDO:0010468 aneurysm, intracranial berry, 5 skos:exactMatch MEDGEN:324377 semapv:UnspecifiedMatching MONDO:0010468 aneurysm, intracranial berry, 5 skos:exactMatch OMIM:300870 aneurysm, intracranial berry, 5 semapv:UnspecifiedMatching MONDO:0010468 aneurysm, intracranial berry, 5 skos:exactMatch UMLS:C1835857 semapv:UnspecifiedMatching MONDO:0010468 aneurysm, intracranial berry, 5 skos:exactMatch mesh:C563670 semapv:UnspecifiedMatching MONDO:0010469 epsilon-trimethyllysine hydroxylase deficiency skos:exactMatch MEDGEN:763789 semapv:UnspecifiedMatching MONDO:0010469 epsilon-trimethyllysine hydroxylase deficiency skos:exactMatch OMIM:300872 autism, susceptibility to, X-linked 6 semapv:UnspecifiedMatching MONDO:0010469 epsilon-trimethyllysine hydroxylase deficiency skos:exactMatch UMLS:C3550875 semapv:UnspecifiedMatching MONDO:0010470 obsolete Baratela-Scott syndrome skos:exactMatch OMIM:300881 semapv:UnspecifiedMatching MONDO:0010471 Cornelia de Lange syndrome 5 skos:exactMatch DOID:0080509 Cornelia de Lange syndrome 5 semapv:UnspecifiedMatching MONDO:0010471 Cornelia de Lange syndrome 5 skos:exactMatch MEDGEN:763817 semapv:UnspecifiedMatching MONDO:0010471 Cornelia de Lange syndrome 5 skos:exactMatch OMIM:300882 cornelia lange lange syndrome 5 semapv:UnspecifiedMatching MONDO:0010471 Cornelia de Lange syndrome 5 skos:exactMatch UMLS:C3550903 semapv:UnspecifiedMatching MONDO:0010472 developmental and epileptic encephalopathy, 36 skos:exactMatch DOID:0080470 developmental and epileptic encephalopathy 36 semapv:UnspecifiedMatching MONDO:0010472 developmental and epileptic encephalopathy, 36 skos:exactMatch MEDGEN:1382656 semapv:UnspecifiedMatching MONDO:0010472 developmental and epileptic encephalopathy, 36 skos:exactMatch OMIM:300884 developmental and epileptic encephalopathy 36 semapv:UnspecifiedMatching MONDO:0010472 developmental and epileptic encephalopathy, 36 skos:exactMatch Orphanet:324422 ALG13-CDG semapv:UnspecifiedMatching MONDO:0010472 developmental and epileptic encephalopathy, 36 skos:exactMatch SCTID:733451007 semapv:UnspecifiedMatching MONDO:0010472 developmental and epileptic encephalopathy, 36 skos:exactMatch UMLS:C4317295 semapv:UnspecifiedMatching MONDO:0010473 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome skos:exactMatch DOID:0060828 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome semapv:UnspecifiedMatching MONDO:0010473 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome skos:exactMatch MEDGEN:763827 semapv:UnspecifiedMatching MONDO:0010473 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome skos:exactMatch OMIM:300886 intellectual developmental disorder, x-linked, syndromic 32 semapv:UnspecifiedMatching MONDO:0010473 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome skos:exactMatch Orphanet:324410 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome semapv:UnspecifiedMatching MONDO:0010473 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome skos:exactMatch UMLS:C3550913 semapv:UnspecifiedMatching MONDO:0010474 linear skin defects with multiple congenital anomalies 2 skos:exactMatch DOID:0111877 linear skin defects with multiple congenital anomalies 2 semapv:UnspecifiedMatching MONDO:0010474 linear skin defects with multiple congenital anomalies 2 skos:exactMatch MEDGEN:763835 semapv:UnspecifiedMatching MONDO:0010474 linear skin defects with multiple congenital anomalies 2 skos:exactMatch OMIM:300887 linear skin defects with multiple congenital anomalies 2 semapv:UnspecifiedMatching MONDO:0010474 linear skin defects with multiple congenital anomalies 2 skos:exactMatch UMLS:C3550921 semapv:UnspecifiedMatching MONDO:0010475 X-linked central congenital hypothyroidism with late-onset testicular enlargement skos:exactMatch DOID:0111140 IGSF1 deficiency syndrome semapv:UnspecifiedMatching MONDO:0010475 X-linked central congenital hypothyroidism with late-onset testicular enlargement skos:exactMatch MEDGEN:763877 semapv:UnspecifiedMatching MONDO:0010475 X-linked central congenital hypothyroidism with late-onset testicular enlargement skos:exactMatch NCIT:C130989 Immunoglobulin Superfamily Member 1 Deficiency Syndrome semapv:UnspecifiedMatching MONDO:0010475 X-linked central congenital hypothyroidism with late-onset testicular enlargement skos:exactMatch OMIM:300888 hypothyroidism, central, with testicular enlargement semapv:UnspecifiedMatching MONDO:0010475 X-linked central congenital hypothyroidism with late-onset testicular enlargement skos:exactMatch Orphanet:329235 X-linked central congenital hypothyroidism with late-onset testicular enlargement semapv:UnspecifiedMatching MONDO:0010475 X-linked central congenital hypothyroidism with late-onset testicular enlargement skos:exactMatch UMLS:C3550963 semapv:UnspecifiedMatching MONDO:0010476 neurodegeneration with brain iron accumulation 5 skos:exactMatch DOID:0110739 neurodegeneration with brain iron accumulation 5 semapv:UnspecifiedMatching MONDO:0010476 neurodegeneration with brain iron accumulation 5 skos:exactMatch MEDGEN:763887 semapv:UnspecifiedMatching MONDO:0010476 neurodegeneration with brain iron accumulation 5 skos:exactMatch NCIT:C175210 Neurodegeneration with Brain Iron Accumulation 5 semapv:UnspecifiedMatching MONDO:0010476 neurodegeneration with brain iron accumulation 5 skos:exactMatch OMIM:300894 neurodegeneration with brain iron accumulation 5 semapv:UnspecifiedMatching MONDO:0010476 neurodegeneration with brain iron accumulation 5 skos:exactMatch Orphanet:329284 Beta-propeller protein-associated neurodegeneration semapv:UnspecifiedMatching MONDO:0010476 neurodegeneration with brain iron accumulation 5 skos:exactMatch SCTID:732959007 semapv:UnspecifiedMatching MONDO:0010476 neurodegeneration with brain iron accumulation 5 skos:exactMatch UMLS:C3550973 semapv:UnspecifiedMatching MONDO:0010477 blepharophimosis - intellectual disability syndrome, MKB type skos:exactMatch MEDGEN:785805 semapv:UnspecifiedMatching MONDO:0010477 blepharophimosis - intellectual disability syndrome, MKB type skos:exactMatch OMIM:300895 ohdo syndrome, X-linked semapv:UnspecifiedMatching MONDO:0010477 blepharophimosis - intellectual disability syndrome, MKB type skos:exactMatch Orphanet:293707 Blepharophimosis-intellectual disability syndrome, MKB type semapv:UnspecifiedMatching MONDO:0010477 blepharophimosis - intellectual disability syndrome, MKB type skos:exactMatch SCTID:699297004 semapv:UnspecifiedMatching MONDO:0010477 blepharophimosis - intellectual disability syndrome, MKB type skos:exactMatch UMLS:C3698541 semapv:UnspecifiedMatching MONDO:0010478 SLC35A2-congenital disorder of glycosylation skos:exactMatch DOID:0070265 congenital disorder of glycosylation type IIm semapv:UnspecifiedMatching MONDO:0010478 SLC35A2-congenital disorder of glycosylation skos:exactMatch MEDGEN:813018 semapv:UnspecifiedMatching MONDO:0010478 SLC35A2-congenital disorder of glycosylation skos:exactMatch OMIM:300896 congenital disorder of glycosylation, type iim semapv:UnspecifiedMatching MONDO:0010478 SLC35A2-congenital disorder of glycosylation skos:exactMatch Orphanet:356961 SLC35A2-CDG semapv:UnspecifiedMatching MONDO:0010478 SLC35A2-congenital disorder of glycosylation skos:exactMatch UMLS:C3806688 semapv:UnspecifiedMatching MONDO:0010479 Charcot-Marie-Tooth disease X-linked dominant 6 skos:exactMatch DOID:0110207 Charcot-Marie-Tooth disease X-linked dominant 6 semapv:UnspecifiedMatching MONDO:0010479 Charcot-Marie-Tooth disease X-linked dominant 6 skos:exactMatch MEDGEN:813032 semapv:UnspecifiedMatching MONDO:0010479 Charcot-Marie-Tooth disease X-linked dominant 6 skos:exactMatch OMIM:300905 charcot-marie-tooth disease, X-linked dominant, 6 semapv:UnspecifiedMatching MONDO:0010479 Charcot-Marie-Tooth disease X-linked dominant 6 skos:exactMatch Orphanet:352675 X-linked Charcot-Marie-Tooth disease type 6 semapv:UnspecifiedMatching MONDO:0010479 Charcot-Marie-Tooth disease X-linked dominant 6 skos:exactMatch SCTID:763347000 semapv:UnspecifiedMatching MONDO:0010479 Charcot-Marie-Tooth disease X-linked dominant 6 skos:exactMatch UMLS:C3806702 semapv:UnspecifiedMatching MONDO:0010480 anemia, nonspherocytic hemolytic, due to G6PD deficiency skos:exactMatch DOID:0051003 congenital nonspherocytic hemolytic anemia 1 semapv:UnspecifiedMatching MONDO:0010480 anemia, nonspherocytic hemolytic, due to G6PD deficiency skos:exactMatch MEDGEN:403555 semapv:UnspecifiedMatching MONDO:0010480 anemia, nonspherocytic hemolytic, due to G6PD deficiency skos:exactMatch OMIM:300908 anemia, congenital, nonspherocytic hemolytic, 1 semapv:UnspecifiedMatching MONDO:0010480 anemia, nonspherocytic hemolytic, due to G6PD deficiency skos:exactMatch Orphanet:466026 Class I glucose-6-phosphate dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0010480 anemia, nonspherocytic hemolytic, due to G6PD deficiency skos:exactMatch UMLS:C2720289 semapv:UnspecifiedMatching MONDO:0010480 anemia, nonspherocytic hemolytic, due to G6PD deficiency skos:exactMatch mesh:C567533 semapv:UnspecifiedMatching MONDO:0010481 angioedema skos:exactMatch DOID:1558 angioedema semapv:UnspecifiedMatching MONDO:0010481 angioedema skos:exactMatch EFO:0005532 semapv:UnspecifiedMatching MONDO:0010481 angioedema skos:exactMatch MEDGEN:1543 semapv:UnspecifiedMatching MONDO:0010481 angioedema skos:exactMatch SCTID:400075008 semapv:UnspecifiedMatching MONDO:0010481 angioedema skos:exactMatch UMLS:C0002994 semapv:UnspecifiedMatching MONDO:0010481 angioedema skos:exactMatch mesh:D000799 semapv:UnspecifiedMatching MONDO:0010482 X-linked parkinsonism-spasticity syndrome skos:exactMatch DOID:0112105 X-linked parkinsonism-spasticity syndrome semapv:UnspecifiedMatching MONDO:0010482 X-linked parkinsonism-spasticity syndrome skos:exactMatch MEDGEN:813052 semapv:UnspecifiedMatching MONDO:0010482 X-linked parkinsonism-spasticity syndrome skos:exactMatch OMIM:300911 parkinsonism with spasticity, X-linked semapv:UnspecifiedMatching MONDO:0010482 X-linked parkinsonism-spasticity syndrome skos:exactMatch Orphanet:363654 X-linked parkinsonism-spasticity syndrome semapv:UnspecifiedMatching MONDO:0010482 X-linked parkinsonism-spasticity syndrome skos:exactMatch UMLS:C3806722 semapv:UnspecifiedMatching MONDO:0010483 X-linked intellectual disability, Cantagrel type skos:exactMatch DOID:0112044 non-syndromic X-linked intellectual disability 98 semapv:UnspecifiedMatching MONDO:0010483 X-linked intellectual disability, Cantagrel type skos:exactMatch MEDGEN:813060 semapv:UnspecifiedMatching MONDO:0010483 X-linked intellectual disability, Cantagrel type skos:exactMatch OMIM:300912 intellectual developmental disorder, X-linked 98 semapv:UnspecifiedMatching MONDO:0010483 X-linked intellectual disability, Cantagrel type skos:exactMatch Orphanet:85277 X-linked intellectual disability, Cantagrel type semapv:UnspecifiedMatching MONDO:0010483 X-linked intellectual disability, Cantagrel type skos:exactMatch SCTID:719016007 semapv:UnspecifiedMatching MONDO:0010483 X-linked intellectual disability, Cantagrel type skos:exactMatch UMLS:C3806730 semapv:UnspecifiedMatching MONDO:0010484 hearing loss, X-linked 6 skos:exactMatch DOID:0111740 X-linked deafness 6 semapv:UnspecifiedMatching MONDO:0010484 hearing loss, X-linked 6 skos:exactMatch MEDGEN:813067 semapv:UnspecifiedMatching MONDO:0010484 hearing loss, X-linked 6 skos:exactMatch OMIM:300914 deafness, X-linked 6 semapv:UnspecifiedMatching MONDO:0010484 hearing loss, X-linked 6 skos:exactMatch UMLS:C3806737 semapv:UnspecifiedMatching MONDO:0010485 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome skos:exactMatch DOID:0111811 syndromic microphthalmia 13 semapv:UnspecifiedMatching MONDO:0010485 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome skos:exactMatch MEDGEN:813072 semapv:UnspecifiedMatching MONDO:0010485 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome skos:exactMatch OMIM:300915 microphthalmia, syndromic 13 semapv:UnspecifiedMatching MONDO:0010485 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome skos:exactMatch Orphanet:431140 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome semapv:UnspecifiedMatching MONDO:0010485 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome skos:exactMatch UMLS:C3806742 semapv:UnspecifiedMatching MONDO:0010486 Olmsted syndrome, X-linked skos:exactMatch DOID:0112012 X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques semapv:UnspecifiedMatching MONDO:0010486 Olmsted syndrome, X-linked skos:exactMatch MEDGEN:813075 semapv:UnspecifiedMatching MONDO:0010486 Olmsted syndrome, X-linked skos:exactMatch OMIM:300918 olmsted syndrome, X-linked semapv:UnspecifiedMatching MONDO:0010486 Olmsted syndrome, X-linked skos:exactMatch UMLS:C3806745 semapv:UnspecifiedMatching MONDO:0010487 intellectual disability, X-linked 99 skos:exactMatch DOID:0112026 non-syndromic X-linked intellectual disability 99 semapv:UnspecifiedMatching MONDO:0010487 intellectual disability, X-linked 99 skos:exactMatch MEDGEN:813076 semapv:UnspecifiedMatching MONDO:0010487 intellectual disability, X-linked 99 skos:exactMatch OMIM:300919 intellectual developmental disorder, X-linked 99 semapv:UnspecifiedMatching MONDO:0010487 intellectual disability, X-linked 99 skos:exactMatch UMLS:C3806746 semapv:UnspecifiedMatching MONDO:0010488 intellectual disability, X-linked 100 skos:exactMatch DOID:0112040 non-syndromic X-linked intellectual disability 100 semapv:UnspecifiedMatching MONDO:0010488 intellectual disability, X-linked 100 skos:exactMatch MEDGEN:855516 semapv:UnspecifiedMatching MONDO:0010488 intellectual disability, X-linked 100 skos:exactMatch OMIM:300923 intellectual developmental disorder, X-linked 100 semapv:UnspecifiedMatching MONDO:0010488 intellectual disability, X-linked 100 skos:exactMatch UMLS:C3890167 semapv:UnspecifiedMatching MONDO:0010489 intellectual disability, X-linked 101 skos:exactMatch DOID:0112048 non-syndromic X-linked intellectual disability 101 semapv:UnspecifiedMatching MONDO:0010489 intellectual disability, X-linked 101 skos:exactMatch MEDGEN:855517 semapv:UnspecifiedMatching MONDO:0010489 intellectual disability, X-linked 101 skos:exactMatch OMIM:300928 intellectual developmental disorder, X-linked 101 semapv:UnspecifiedMatching MONDO:0010489 intellectual disability, X-linked 101 skos:exactMatch UMLS:C3890168 semapv:UnspecifiedMatching MONDO:0010490 SSR4-congenital disorder of glycosylation skos:exactMatch DOID:0080574 congenital disorder of glycosylation Iy semapv:UnspecifiedMatching MONDO:0010490 SSR4-congenital disorder of glycosylation skos:exactMatch MEDGEN:860832 semapv:UnspecifiedMatching MONDO:0010490 SSR4-congenital disorder of glycosylation skos:exactMatch OMIM:300934 congenital disorder of glycosylation, type iy semapv:UnspecifiedMatching MONDO:0010490 SSR4-congenital disorder of glycosylation skos:exactMatch Orphanet:370927 SSR4-CDG semapv:UnspecifiedMatching MONDO:0010490 SSR4-congenital disorder of glycosylation skos:exactMatch SCTID:733115009 semapv:UnspecifiedMatching MONDO:0010490 SSR4-congenital disorder of glycosylation skos:exactMatch UMLS:C4012395 semapv:UnspecifiedMatching MONDO:0010491 X-linked acrogigantism due to Xq26 microduplication skos:exactMatch MEDGEN:856021 semapv:UnspecifiedMatching MONDO:0010491 X-linked acrogigantism due to Xq26 microduplication skos:exactMatch OMIM:300942 chromosome xq26.3 duplication syndrome semapv:UnspecifiedMatching MONDO:0010491 X-linked acrogigantism due to Xq26 microduplication skos:exactMatch Orphanet:300373 X-linked acrogigantism semapv:UnspecifiedMatching MONDO:0010491 X-linked acrogigantism due to Xq26 microduplication skos:exactMatch SCTID:768472004 semapv:UnspecifiedMatching MONDO:0010491 X-linked acrogigantism due to Xq26 microduplication skos:exactMatch UMLS:C3891556 semapv:UnspecifiedMatching MONDO:0010492 pituitary adenoma, growth hormone-secreting, 2 skos:exactMatch DOID:0112007 growth hormone secreting pituitary adenoma 2 semapv:UnspecifiedMatching MONDO:0010492 pituitary adenoma, growth hormone-secreting, 2 skos:exactMatch MEDGEN:860846 semapv:UnspecifiedMatching MONDO:0010492 pituitary adenoma, growth hormone-secreting, 2 skos:exactMatch OMIM:300943 pituitary adenoma 2, growth hormone-secreting semapv:UnspecifiedMatching MONDO:0010492 pituitary adenoma, growth hormone-secreting, 2 skos:exactMatch UMLS:C4012409 semapv:UnspecifiedMatching MONDO:0010493 Diamond-Blackfan anemia 14 with mandibulofacial dysostosis skos:exactMatch DOID:0111897 Diamond-Blackfan anemia 14 with mandibulofacial dysostosis semapv:UnspecifiedMatching MONDO:0010493 Diamond-Blackfan anemia 14 with mandibulofacial dysostosis skos:exactMatch MEDGEN:895657 semapv:UnspecifiedMatching MONDO:0010493 Diamond-Blackfan anemia 14 with mandibulofacial dysostosis skos:exactMatch OMIM:300946 diamond-blackfan anemia 14 with mandibulofacial dysostosis semapv:UnspecifiedMatching MONDO:0010493 Diamond-Blackfan anemia 14 with mandibulofacial dysostosis skos:exactMatch UMLS:C4225422 semapv:UnspecifiedMatching MONDO:0010494 linear skin defects with multiple congenital anomalies 3 skos:exactMatch DOID:0111876 linear skin defects with multiple congenital anomalies 3 semapv:UnspecifiedMatching MONDO:0010494 linear skin defects with multiple congenital anomalies 3 skos:exactMatch MEDGEN:906997 semapv:UnspecifiedMatching MONDO:0010494 linear skin defects with multiple congenital anomalies 3 skos:exactMatch OMIM:300952 linear skin defects with multiple congenital anomalies 3 semapv:UnspecifiedMatching MONDO:0010494 linear skin defects with multiple congenital anomalies 3 skos:exactMatch UMLS:C4225421 semapv:UnspecifiedMatching MONDO:0010495 trichothiodystrophy 5, nonphotosensitive skos:exactMatch DOID:0111868 nonphotosensitive trichothiodystrophy 5 semapv:UnspecifiedMatching MONDO:0010495 trichothiodystrophy 5, nonphotosensitive skos:exactMatch MEDGEN:899675 semapv:UnspecifiedMatching MONDO:0010495 trichothiodystrophy 5, nonphotosensitive skos:exactMatch OMIM:300953 trichothiodystrophy 5, nonphotosensitive semapv:UnspecifiedMatching MONDO:0010495 trichothiodystrophy 5, nonphotosensitive skos:exactMatch UMLS:C4225420 semapv:UnspecifiedMatching MONDO:0010496 X-linked intellectual disability-short stature-overweight syndrome skos:exactMatch DOID:0112056 X-linked intellectual disability-short stature-overweight syndrome semapv:UnspecifiedMatching MONDO:0010496 X-linked intellectual disability-short stature-overweight syndrome skos:exactMatch MEDGEN:901885 semapv:UnspecifiedMatching MONDO:0010496 X-linked intellectual disability-short stature-overweight syndrome skos:exactMatch OMIM:300957 intellectual developmental disorder, x-linked, syndromic, kumar type semapv:UnspecifiedMatching MONDO:0010496 X-linked intellectual disability-short stature-overweight syndrome skos:exactMatch Orphanet:457240 X-linked intellectual disability-short stature-overweight syndrome semapv:UnspecifiedMatching MONDO:0010496 X-linked intellectual disability-short stature-overweight syndrome skos:exactMatch UMLS:C0796218 semapv:UnspecifiedMatching MONDO:0010497 intellectual disability, X-linked 102 skos:exactMatch MEDGEN:1715418 semapv:UnspecifiedMatching MONDO:0010497 intellectual disability, X-linked 102 skos:exactMatch NCIT:C129931 Mental Retardation, X-linked 102 semapv:UnspecifiedMatching MONDO:0010497 intellectual disability, X-linked 102 skos:exactMatch OMIM:300958 intellectual developmental disorder, x-linked, syndromic, snijders blok type semapv:UnspecifiedMatching MONDO:0010497 intellectual disability, X-linked 102 skos:exactMatch UMLS:C5393299 semapv:UnspecifiedMatching MONDO:0010498 MEND syndrome skos:exactMatch DOID:0111865 MEND syndrome semapv:UnspecifiedMatching MONDO:0010498 MEND syndrome skos:exactMatch MEDGEN:905986 semapv:UnspecifiedMatching MONDO:0010498 MEND syndrome skos:exactMatch OMIM:300960 MEND syndrome semapv:UnspecifiedMatching MONDO:0010498 MEND syndrome skos:exactMatch Orphanet:401973 MEND syndrome semapv:UnspecifiedMatching MONDO:0010498 MEND syndrome skos:exactMatch UMLS:C4085243 semapv:UnspecifiedMatching MONDO:0010499 Ritscher-Schinzel syndrome 2 skos:exactMatch DOID:0060572 Ritscher-Schinzel syndrome 2 semapv:UnspecifiedMatching MONDO:0010499 Ritscher-Schinzel syndrome 2 skos:exactMatch MEDGEN:897005 semapv:UnspecifiedMatching MONDO:0010499 Ritscher-Schinzel syndrome 2 skos:exactMatch OMIM:300963 ritscher-schinzel syndrome 2 semapv:UnspecifiedMatching MONDO:0010499 Ritscher-Schinzel syndrome 2 skos:exactMatch UMLS:C4225419 semapv:UnspecifiedMatching MONDO:0010500 intellectual disability, X-linked, syndromic 33 skos:exactMatch MEDGEN:895979 semapv:UnspecifiedMatching MONDO:0010500 intellectual disability, X-linked, syndromic 33 skos:exactMatch OMIM:300966 intellectual developmental disorder, x-linked, syndromic 33 semapv:UnspecifiedMatching MONDO:0010500 intellectual disability, X-linked, syndromic 33 skos:exactMatch Orphanet:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome semapv:UnspecifiedMatching MONDO:0010500 intellectual disability, X-linked, syndromic 33 skos:exactMatch UMLS:C4225418 semapv:UnspecifiedMatching MONDO:0010501 syndromic X-linked intellectual disability 34 skos:exactMatch DOID:0060817 syndromic X-linked intellectual disability 34 semapv:UnspecifiedMatching MONDO:0010501 syndromic X-linked intellectual disability 34 skos:exactMatch MEDGEN:902184 semapv:UnspecifiedMatching MONDO:0010501 syndromic X-linked intellectual disability 34 skos:exactMatch OMIM:300967 intellectual developmental disorder, x-linked, syndromic 34 semapv:UnspecifiedMatching MONDO:0010501 syndromic X-linked intellectual disability 34 skos:exactMatch Orphanet:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome semapv:UnspecifiedMatching MONDO:0010501 syndromic X-linked intellectual disability 34 skos:exactMatch UMLS:C4225417 semapv:UnspecifiedMatching MONDO:0010502 intellectual disability, X-linked 99, syndromic, female-restricted skos:exactMatch DOID:0112025 female-restricted syndromic X-linked intellectual disability 99 semapv:UnspecifiedMatching MONDO:0010502 intellectual disability, X-linked 99, syndromic, female-restricted skos:exactMatch MEDGEN:899839 semapv:UnspecifiedMatching MONDO:0010502 intellectual disability, X-linked 99, syndromic, female-restricted skos:exactMatch OMIM:300968 intellectual developmental disorder, X-linked 99, syndromic, female-restricted semapv:UnspecifiedMatching MONDO:0010502 intellectual disability, X-linked 99, syndromic, female-restricted skos:exactMatch UMLS:C4225416 semapv:UnspecifiedMatching MONDO:0010503 Bartter disease type 5 skos:exactMatch DOID:0110147 Bartter disease type 5 semapv:UnspecifiedMatching MONDO:0010503 Bartter disease type 5 skos:exactMatch MEDGEN:934787 semapv:UnspecifiedMatching MONDO:0010503 Bartter disease type 5 skos:exactMatch OMIM:300971 bartter syndrome, type 5, antenatal, transient semapv:UnspecifiedMatching MONDO:0010503 Bartter disease type 5 skos:exactMatch Orphanet:570371 Bartter syndrome type 5 semapv:UnspecifiedMatching MONDO:0010503 Bartter disease type 5 skos:exactMatch UMLS:C4310820 semapv:UnspecifiedMatching MONDO:0010504 immunodeficiency 47 skos:exactMatch DOID:0112002 immunodeficiency 47 semapv:UnspecifiedMatching MONDO:0010504 immunodeficiency 47 skos:exactMatch MEDGEN:934786 semapv:UnspecifiedMatching MONDO:0010504 immunodeficiency 47 skos:exactMatch OMIM:300972 immunodeficiency 47 semapv:UnspecifiedMatching MONDO:0010504 immunodeficiency 47 skos:exactMatch Orphanet:692790 ATP6AP1-CDG semapv:UnspecifiedMatching MONDO:0010504 immunodeficiency 47 skos:exactMatch UMLS:C4310819 semapv:UnspecifiedMatching MONDO:0010505 intellectual disability-balding-patella luxation-acromicria syndrome skos:exactMatch MEDGEN:401129 semapv:UnspecifiedMatching MONDO:0010505 intellectual disability-balding-patella luxation-acromicria syndrome skos:exactMatch OMIM:300977 scholte syndrome semapv:UnspecifiedMatching MONDO:0010505 intellectual disability-balding-patella luxation-acromicria syndrome skos:exactMatch Orphanet:3041 Intellectual disability-balding-patella luxation-acromicria syndrome semapv:UnspecifiedMatching MONDO:0010505 intellectual disability-balding-patella luxation-acromicria syndrome skos:exactMatch SCTID:722002002 semapv:UnspecifiedMatching MONDO:0010505 intellectual disability-balding-patella luxation-acromicria syndrome skos:exactMatch UMLS:C1866985 semapv:UnspecifiedMatching MONDO:0010505 intellectual disability-balding-patella luxation-acromicria syndrome skos:exactMatch mesh:C536638 semapv:UnspecifiedMatching MONDO:0010506 intellectual disability, X-linked 61 skos:exactMatch DOID:0112042 Tonne-Kalscheuer syndrome semapv:UnspecifiedMatching MONDO:0010506 intellectual disability, X-linked 61 skos:exactMatch MEDGEN:924419 semapv:UnspecifiedMatching MONDO:0010506 intellectual disability, X-linked 61 skos:exactMatch OMIM:300978 tonne-kalscheuer syndrome semapv:UnspecifiedMatching MONDO:0010506 intellectual disability, X-linked 61 skos:exactMatch UMLS:C4283894 semapv:UnspecifiedMatching MONDO:0010507 Xq25 microduplication syndrome skos:exactMatch MEDGEN:935016 semapv:UnspecifiedMatching MONDO:0010507 Xq25 microduplication syndrome skos:exactMatch NCIT:C177544 Xq25 Microduplication Syndrome semapv:UnspecifiedMatching MONDO:0010507 Xq25 microduplication syndrome skos:exactMatch OMIM:300979 chromosome xq25 duplication syndrome semapv:UnspecifiedMatching MONDO:0010507 Xq25 microduplication syndrome skos:exactMatch Orphanet:521258 Xq25 microduplication syndrome semapv:UnspecifiedMatching MONDO:0010507 Xq25 microduplication syndrome skos:exactMatch UMLS:C4311049 semapv:UnspecifiedMatching MONDO:0010508 intellectual disability, X-linked 103 skos:exactMatch DOID:0112020 non-syndromic X-linked intellectual disability 103 semapv:UnspecifiedMatching MONDO:0010508 intellectual disability, X-linked 103 skos:exactMatch MEDGEN:934785 semapv:UnspecifiedMatching MONDO:0010508 intellectual disability, X-linked 103 skos:exactMatch OMIM:300982 intellectual developmental disorder, X-linked 103 semapv:UnspecifiedMatching MONDO:0010508 intellectual disability, X-linked 103 skos:exactMatch UMLS:C4310818 semapv:UnspecifiedMatching MONDO:0010509 intellectual disability, X-linked 104 skos:exactMatch DOID:0112018 non-syndromic X-linked intellectual disability 104 semapv:UnspecifiedMatching MONDO:0010509 intellectual disability, X-linked 104 skos:exactMatch MEDGEN:934784 semapv:UnspecifiedMatching MONDO:0010509 intellectual disability, X-linked 104 skos:exactMatch OMIM:300983 intellectual developmental disorder, X-linked 104 semapv:UnspecifiedMatching MONDO:0010509 intellectual disability, X-linked 104 skos:exactMatch UMLS:C4310817 semapv:UnspecifiedMatching MONDO:0010510 intellectual disability, X-linked 105 skos:exactMatch DOID:0112036 non-syndromic X-linked intellectual disability 105 semapv:UnspecifiedMatching MONDO:0010510 intellectual disability, X-linked 105 skos:exactMatch MEDGEN:934783 semapv:UnspecifiedMatching MONDO:0010510 intellectual disability, X-linked 105 skos:exactMatch OMIM:300984 intellectual developmental disorder, X-linked 105 semapv:UnspecifiedMatching MONDO:0010510 intellectual disability, X-linked 105 skos:exactMatch UMLS:C4310816 semapv:UnspecifiedMatching MONDO:0010511 vas deferens, congenital bilateral aplasia of, X-linked skos:exactMatch DOID:0111863 X-linked congenital bilateral absence of vas deferens semapv:UnspecifiedMatching MONDO:0010511 vas deferens, congenital bilateral aplasia of, X-linked skos:exactMatch MEDGEN:934782 semapv:UnspecifiedMatching MONDO:0010511 vas deferens, congenital bilateral aplasia of, X-linked skos:exactMatch OMIM:300985 vas deferens, congenital bilateral aplasia of, X-linked semapv:UnspecifiedMatching MONDO:0010511 vas deferens, congenital bilateral aplasia of, X-linked skos:exactMatch UMLS:C4310815 semapv:UnspecifiedMatching MONDO:0010512 intellectual disability, X-linked, syndromic, Bain type skos:exactMatch DOID:0070538 syndromic X-linked intellectual developmental disorder bain type semapv:UnspecifiedMatching MONDO:0010512 intellectual disability, X-linked, syndromic, Bain type skos:exactMatch MEDGEN:934781 semapv:UnspecifiedMatching MONDO:0010512 intellectual disability, X-linked, syndromic, Bain type skos:exactMatch OMIM:300986 intellectual developmental disorder, x-linked, syndromic, bain type semapv:UnspecifiedMatching MONDO:0010512 intellectual disability, X-linked, syndromic, Bain type skos:exactMatch Orphanet:662198 Neurodevelopmental delay-intellectual disability-skeletal defects syndrome semapv:UnspecifiedMatching MONDO:0010512 intellectual disability, X-linked, syndromic, Bain type skos:exactMatch UMLS:C4310814 semapv:UnspecifiedMatching MONDO:0010514 combined immunodeficiency due to moesin deficiency skos:exactMatch DOID:0112001 immunodeficiency 50 semapv:UnspecifiedMatching MONDO:0010514 combined immunodeficiency due to moesin deficiency skos:exactMatch MEDGEN:1799546 semapv:UnspecifiedMatching MONDO:0010514 combined immunodeficiency due to moesin deficiency skos:exactMatch OMIM:300988 immunodeficiency 50 semapv:UnspecifiedMatching MONDO:0010514 combined immunodeficiency due to moesin deficiency skos:exactMatch Orphanet:504530 Combined immunodeficiency due to Moesin deficiency semapv:UnspecifiedMatching MONDO:0010514 combined immunodeficiency due to moesin deficiency skos:exactMatch UMLS:C5568123 semapv:UnspecifiedMatching MONDO:0010515 Meester-Loeys syndrome skos:exactMatch DOID:0111861 Meester-Loeys syndrome semapv:UnspecifiedMatching MONDO:0010515 Meester-Loeys syndrome skos:exactMatch MEDGEN:934778 semapv:UnspecifiedMatching MONDO:0010515 Meester-Loeys syndrome skos:exactMatch NCIT:C187989 Meester-Loeys Syndrome semapv:UnspecifiedMatching MONDO:0010515 Meester-Loeys syndrome skos:exactMatch OMIM:300989 meester-loeys syndrome semapv:UnspecifiedMatching MONDO:0010515 Meester-Loeys syndrome skos:exactMatch UMLS:C4310811 semapv:UnspecifiedMatching MONDO:0010516 midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis skos:exactMatch DOID:0111859 midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis semapv:UnspecifiedMatching MONDO:0010516 midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis skos:exactMatch MEDGEN:934777 semapv:UnspecifiedMatching MONDO:0010516 midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis skos:exactMatch OMIM:300990 midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis semapv:UnspecifiedMatching MONDO:0010516 midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis skos:exactMatch Orphanet:688581 Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome semapv:UnspecifiedMatching MONDO:0010516 midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis skos:exactMatch UMLS:C4310810 semapv:UnspecifiedMatching MONDO:0010517 ciliary dyskinesia, primary, 36, X-linked skos:exactMatch DOID:0111850 primary ciliary dyskinesia 36 semapv:UnspecifiedMatching MONDO:0010517 ciliary dyskinesia, primary, 36, X-linked skos:exactMatch MEDGEN:1393107 semapv:UnspecifiedMatching MONDO:0010517 ciliary dyskinesia, primary, 36, X-linked skos:exactMatch OMIM:300991 ciliary dyskinesia, primary, 36, X-linked semapv:UnspecifiedMatching MONDO:0010517 ciliary dyskinesia, primary, 36, X-linked skos:exactMatch UMLS:C4478372 semapv:UnspecifiedMatching MONDO:0010518 Wiskott-Aldrich syndrome skos:exactMatch DOID:9169 Wiskott-Aldrich syndrome semapv:UnspecifiedMatching MONDO:0010518 Wiskott-Aldrich syndrome skos:exactMatch ICD10CM:D82.0 Wiskott-Aldrich syndrome semapv:UnspecifiedMatching MONDO:0010518 Wiskott-Aldrich syndrome skos:exactMatch MEDGEN:21921 semapv:UnspecifiedMatching MONDO:0010518 Wiskott-Aldrich syndrome skos:exactMatch NCIT:C3448 Wiskott-Aldrich Syndrome semapv:UnspecifiedMatching MONDO:0010518 Wiskott-Aldrich syndrome skos:exactMatch OMIM:301000 wiskott-aldrich syndrome semapv:UnspecifiedMatching MONDO:0010518 Wiskott-Aldrich syndrome skos:exactMatch Orphanet:906 Wiskott-Aldrich syndrome semapv:UnspecifiedMatching MONDO:0010518 Wiskott-Aldrich syndrome skos:exactMatch SCTID:36070007 semapv:UnspecifiedMatching MONDO:0010518 Wiskott-Aldrich syndrome skos:exactMatch UMLS:C0043194 semapv:UnspecifiedMatching MONDO:0010518 Wiskott-Aldrich syndrome skos:exactMatch icd11.foundation:168952525 Wiskott-Aldrich syndrome semapv:UnspecifiedMatching MONDO:0010518 Wiskott-Aldrich syndrome skos:exactMatch mesh:D014923 semapv:UnspecifiedMatching MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome skos:exactMatch DOID:0110030 alpha thalassemia-X-linked intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome skos:exactMatch MEDGEN:337145 semapv:UnspecifiedMatching MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome skos:exactMatch NCIT:C118631 Alpha Thalassemia X-Linked Mental Retardation Syndrome semapv:UnspecifiedMatching MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome skos:exactMatch OMIM:301040 alpha-thalassemia/impaired intellectual development syndrome, X-linked semapv:UnspecifiedMatching MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome skos:exactMatch Orphanet:847 X-linked alpha-thalassemia-intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome skos:exactMatch SCTID:715342005 semapv:UnspecifiedMatching MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome skos:exactMatch UMLS:C1845055 semapv:UnspecifiedMatching MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome skos:exactMatch mesh:C538258 semapv:UnspecifiedMatching MONDO:0010520 X-linked Alport syndrome skos:exactMatch DOID:0110034 X-linked Alport syndrome semapv:UnspecifiedMatching MONDO:0010520 X-linked Alport syndrome skos:exactMatch MEDGEN:1648433 semapv:UnspecifiedMatching MONDO:0010520 X-linked Alport syndrome skos:exactMatch OMIM:301050 alport syndrome 1, X-linked semapv:UnspecifiedMatching MONDO:0010520 X-linked Alport syndrome skos:exactMatch Orphanet:88917 X-linked Alport syndrome semapv:UnspecifiedMatching MONDO:0010520 X-linked Alport syndrome skos:exactMatch SCTID:717768004 semapv:UnspecifiedMatching MONDO:0010520 X-linked Alport syndrome skos:exactMatch UMLS:C4746986 semapv:UnspecifiedMatching MONDO:0010521 amelogenesis imperfecta type 1E skos:exactMatch DOID:0110058 amelogenesis imperfecta type 1E semapv:UnspecifiedMatching MONDO:0010521 amelogenesis imperfecta type 1E skos:exactMatch MEDGEN:336847 semapv:UnspecifiedMatching MONDO:0010521 amelogenesis imperfecta type 1E skos:exactMatch OMIM:301200 amelogenesis imperfecta, type 1e semapv:UnspecifiedMatching MONDO:0010521 amelogenesis imperfecta type 1E skos:exactMatch UMLS:C1845053 semapv:UnspecifiedMatching MONDO:0010522 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 skos:exactMatch DOID:0110059 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 semapv:UnspecifiedMatching MONDO:0010522 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 skos:exactMatch MEDGEN:336845 semapv:UnspecifiedMatching MONDO:0010522 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 skos:exactMatch OMIM:301201 amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2 semapv:UnspecifiedMatching MONDO:0010522 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 skos:exactMatch UMLS:C1845051 semapv:UnspecifiedMatching MONDO:0010523 X-linked reticulate pigmentary disorder skos:exactMatch DOID:0111834 X-linked reticulate pigmentary disorder semapv:UnspecifiedMatching MONDO:0010523 X-linked reticulate pigmentary disorder skos:exactMatch MEDGEN:336844 semapv:UnspecifiedMatching MONDO:0010523 X-linked reticulate pigmentary disorder skos:exactMatch OMIM:301220 pigmentary disorder, reticulate, with systemic manifestations, X-linked semapv:UnspecifiedMatching MONDO:0010523 X-linked reticulate pigmentary disorder skos:exactMatch Orphanet:85453 X-linked reticulate pigmentary disorder semapv:UnspecifiedMatching MONDO:0010523 X-linked reticulate pigmentary disorder skos:exactMatch SCTID:717224002 semapv:UnspecifiedMatching MONDO:0010523 X-linked reticulate pigmentary disorder skos:exactMatch UMLS:C1845050 semapv:UnspecifiedMatching MONDO:0010523 X-linked reticulate pigmentary disorder skos:exactMatch mesh:C564461 semapv:UnspecifiedMatching MONDO:0010524 X-linked sideroblastic anemia with ataxia skos:exactMatch DOID:0050554 X-linked sideroblastic anemia with ataxia semapv:UnspecifiedMatching MONDO:0010524 X-linked sideroblastic anemia with ataxia skos:exactMatch MEDGEN:335078 semapv:UnspecifiedMatching MONDO:0010524 X-linked sideroblastic anemia with ataxia skos:exactMatch OMIM:301310 spinocerebellar ataxia, X-linked 6, with or without sideroblastic anemia semapv:UnspecifiedMatching MONDO:0010524 X-linked sideroblastic anemia with ataxia skos:exactMatch Orphanet:2802 X-linked sideroblastic anemia and spinocerebellar ataxia semapv:UnspecifiedMatching MONDO:0010524 X-linked sideroblastic anemia with ataxia skos:exactMatch SCTID:719816006 semapv:UnspecifiedMatching MONDO:0010524 X-linked sideroblastic anemia with ataxia skos:exactMatch UMLS:C1845028 semapv:UnspecifiedMatching MONDO:0010524 X-linked sideroblastic anemia with ataxia skos:exactMatch mesh:C536358 semapv:UnspecifiedMatching MONDO:0010525 neural tube defects, X-linked skos:exactMatch MEDGEN:337140 semapv:UnspecifiedMatching MONDO:0010525 neural tube defects, X-linked skos:exactMatch OMIM:301410 neural tube defects, X-linked semapv:UnspecifiedMatching MONDO:0010525 neural tube defects, X-linked skos:exactMatch UMLS:C1845026 semapv:UnspecifiedMatching MONDO:0010525 neural tube defects, X-linked skos:exactMatch mesh:C536359 semapv:UnspecifiedMatching MONDO:0010526 Fabry disease skos:exactMatch DOID:14499 Fabry disease semapv:UnspecifiedMatching MONDO:0010526 Fabry disease skos:exactMatch MEDGEN:8083 semapv:UnspecifiedMatching MONDO:0010526 Fabry disease skos:exactMatch NCIT:C84701 Fabry Disease semapv:UnspecifiedMatching MONDO:0010526 Fabry disease skos:exactMatch OMIM:301500 fabry disease semapv:UnspecifiedMatching MONDO:0010526 Fabry disease skos:exactMatch Orphanet:324 Fabry disease semapv:UnspecifiedMatching MONDO:0010526 Fabry disease skos:exactMatch SCTID:16652001 semapv:UnspecifiedMatching MONDO:0010526 Fabry disease skos:exactMatch UMLS:C0002986 semapv:UnspecifiedMatching MONDO:0010526 Fabry disease skos:exactMatch icd11.foundation:66996647 Fabry disease semapv:UnspecifiedMatching MONDO:0010526 Fabry disease skos:exactMatch mesh:D000795 semapv:UnspecifiedMatching MONDO:0010527 obsolete microphthalmia-ankyloblepharon-intellectual disability syndrome skos:exactMatch OMIM:301590 semapv:UnspecifiedMatching MONDO:0010528 anosmia skos:exactMatch MEDGEN:1950 semapv:UnspecifiedMatching MONDO:0010528 anosmia skos:exactMatch SCTID:44169009 semapv:UnspecifiedMatching MONDO:0010528 anosmia skos:exactMatch UMLS:C0003126 semapv:UnspecifiedMatching MONDO:0010528 anosmia skos:exactMatch icd11.foundation:1599308422 Anosmia semapv:UnspecifiedMatching MONDO:0010528 anosmia skos:exactMatch mesh:D000857 semapv:UnspecifiedMatching MONDO:0010529 X-linked spinocerebellar ataxia type 3 skos:exactMatch DOID:0111831 X-linked spinocerebellar ataxia 3 semapv:UnspecifiedMatching MONDO:0010529 X-linked spinocerebellar ataxia type 3 skos:exactMatch MEDGEN:337124 semapv:UnspecifiedMatching MONDO:0010529 X-linked spinocerebellar ataxia type 3 skos:exactMatch OMIM:301790 spinocerebellar ataxia, X-linked 3 semapv:UnspecifiedMatching MONDO:0010529 X-linked spinocerebellar ataxia type 3 skos:exactMatch Orphanet:85297 X-linked spinocerebellar ataxia type 3 semapv:UnspecifiedMatching MONDO:0010529 X-linked spinocerebellar ataxia type 3 skos:exactMatch SCTID:719817002 semapv:UnspecifiedMatching MONDO:0010529 X-linked spinocerebellar ataxia type 3 skos:exactMatch UMLS:C1844936 semapv:UnspecifiedMatching MONDO:0010529 X-linked spinocerebellar ataxia type 3 skos:exactMatch icd11.foundation:261426817 X-linked spinocerebellar ataxia type 3 semapv:UnspecifiedMatching MONDO:0010529 X-linked spinocerebellar ataxia type 3 skos:exactMatch mesh:C537315 semapv:UnspecifiedMatching MONDO:0010531 contractures-ectodermal dysplasia-cleft lip/palate syndrome skos:exactMatch MEDGEN:375546 semapv:UnspecifiedMatching MONDO:0010531 contractures-ectodermal dysplasia-cleft lip/palate syndrome skos:exactMatch OMIM:301815 arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay semapv:UnspecifiedMatching MONDO:0010531 contractures-ectodermal dysplasia-cleft lip/palate syndrome skos:exactMatch Orphanet:1484 Contractures-ectodermal dysplasia-cleft lip/palate syndrome semapv:UnspecifiedMatching MONDO:0010531 contractures-ectodermal dysplasia-cleft lip/palate syndrome skos:exactMatch SCTID:720746006 semapv:UnspecifiedMatching MONDO:0010531 contractures-ectodermal dysplasia-cleft lip/palate syndrome skos:exactMatch UMLS:C1844935 semapv:UnspecifiedMatching MONDO:0010532 infantile-onset X-linked spinal muscular atrophy skos:exactMatch DOID:0111827 X-linked spinal muscular atrophy 2 semapv:UnspecifiedMatching MONDO:0010532 infantile-onset X-linked spinal muscular atrophy skos:exactMatch MEDGEN:337123 semapv:UnspecifiedMatching MONDO:0010532 infantile-onset X-linked spinal muscular atrophy skos:exactMatch OMIM:301830 spinal muscular atrophy, X-linked 2 semapv:UnspecifiedMatching MONDO:0010532 infantile-onset X-linked spinal muscular atrophy skos:exactMatch Orphanet:1145 Infantile-onset X-linked spinal muscular atrophy semapv:UnspecifiedMatching MONDO:0010532 infantile-onset X-linked spinal muscular atrophy skos:exactMatch SCTID:719836007 semapv:UnspecifiedMatching MONDO:0010532 infantile-onset X-linked spinal muscular atrophy skos:exactMatch UMLS:C1844934 semapv:UnspecifiedMatching MONDO:0010532 infantile-onset X-linked spinal muscular atrophy skos:exactMatch mesh:C535380 semapv:UnspecifiedMatching MONDO:0010533 Arts syndrome skos:exactMatch DOID:0050647 Arts syndrome semapv:UnspecifiedMatching MONDO:0010533 Arts syndrome skos:exactMatch MEDGEN:163205 semapv:UnspecifiedMatching MONDO:0010533 Arts syndrome skos:exactMatch OMIM:301835 ARTS syndrome semapv:UnspecifiedMatching MONDO:0010533 Arts syndrome skos:exactMatch Orphanet:1187 Lethal ataxia with deafness and optic atrophy semapv:UnspecifiedMatching MONDO:0010533 Arts syndrome skos:exactMatch SCTID:702441001 semapv:UnspecifiedMatching MONDO:0010533 Arts syndrome skos:exactMatch UMLS:C0796028 semapv:UnspecifiedMatching MONDO:0010533 Arts syndrome skos:exactMatch mesh:C535388 semapv:UnspecifiedMatching MONDO:0010534 X-linked spinocerebellar ataxia type 4 skos:exactMatch DOID:0111832 X-linked spinocerebellar ataxia 4 semapv:UnspecifiedMatching MONDO:0010534 X-linked spinocerebellar ataxia type 4 skos:exactMatch MEDGEN:337122 semapv:UnspecifiedMatching MONDO:0010534 X-linked spinocerebellar ataxia type 4 skos:exactMatch OMIM:301840 spinocerebellar ataxia, X-linked 4 semapv:UnspecifiedMatching MONDO:0010534 X-linked spinocerebellar ataxia type 4 skos:exactMatch Orphanet:85292 X-linked spinocerebellar ataxia type 4 semapv:UnspecifiedMatching MONDO:0010534 X-linked spinocerebellar ataxia type 4 skos:exactMatch SCTID:719818007 semapv:UnspecifiedMatching MONDO:0010534 X-linked spinocerebellar ataxia type 4 skos:exactMatch UMLS:C1844933 semapv:UnspecifiedMatching MONDO:0010534 X-linked spinocerebellar ataxia type 4 skos:exactMatch icd11.foundation:1033689736 X-linked spinocerebellar ataxia type 4 semapv:UnspecifiedMatching MONDO:0010534 X-linked spinocerebellar ataxia type 4 skos:exactMatch mesh:C537316 semapv:UnspecifiedMatching MONDO:0010535 Bazex-Dupre-Christol syndrome skos:exactMatch MEDGEN:87539 semapv:UnspecifiedMatching MONDO:0010535 Bazex-Dupre-Christol syndrome skos:exactMatch OMIM:301845 bazex-dupre-christol syndrome semapv:UnspecifiedMatching MONDO:0010535 Bazex-Dupre-Christol syndrome skos:exactMatch Orphanet:113 Bazex-Dupré-Christol syndrome semapv:UnspecifiedMatching MONDO:0010535 Bazex-Dupre-Christol syndrome skos:exactMatch Orphanet:166113 Bazex syndrome semapv:UnspecifiedMatching MONDO:0010535 Bazex-Dupre-Christol syndrome skos:exactMatch SCTID:238640007 semapv:UnspecifiedMatching MONDO:0010535 Bazex-Dupre-Christol syndrome skos:exactMatch SCTID:254820002 semapv:UnspecifiedMatching MONDO:0010535 Bazex-Dupre-Christol syndrome skos:exactMatch UMLS:C0346104 semapv:UnspecifiedMatching MONDO:0010536 tubulin, beta skos:exactMatch MEDGEN:854410 semapv:UnspecifiedMatching MONDO:0010536 tubulin, beta skos:exactMatch OMIM:301850 tubulin, beta semapv:UnspecifiedMatching MONDO:0010536 tubulin, beta skos:exactMatch UMLS:C3887557 semapv:UnspecifiedMatching MONDO:0010537 Borjeson-Forssman-Lehmann syndrome skos:exactMatch DOID:0050681 Borjeson-Forssman-Lehmann syndrome semapv:UnspecifiedMatching MONDO:0010537 Borjeson-Forssman-Lehmann syndrome skos:exactMatch MEDGEN:78557 semapv:UnspecifiedMatching MONDO:0010537 Borjeson-Forssman-Lehmann syndrome skos:exactMatch OMIM:301900 borjeson-forssman-lehmann syndrome semapv:UnspecifiedMatching MONDO:0010537 Borjeson-Forssman-Lehmann syndrome skos:exactMatch Orphanet:127 Borjeson-Forssman-Lehmann syndrome semapv:UnspecifiedMatching MONDO:0010537 Borjeson-Forssman-Lehmann syndrome skos:exactMatch SCTID:21634003 semapv:UnspecifiedMatching MONDO:0010537 Borjeson-Forssman-Lehmann syndrome skos:exactMatch UMLS:C0265339 semapv:UnspecifiedMatching MONDO:0010537 Borjeson-Forssman-Lehmann syndrome skos:exactMatch mesh:C536575 semapv:UnspecifiedMatching MONDO:0010538 Mononen-Karnes-Senac syndrome skos:exactMatch DOID:0110973 Mononen-Karnes-Senac syndrome semapv:UnspecifiedMatching MONDO:0010538 Mononen-Karnes-Senac syndrome skos:exactMatch MEDGEN:336815 semapv:UnspecifiedMatching MONDO:0010538 Mononen-Karnes-Senac syndrome skos:exactMatch OMIM:301940 brachydactyly, mononen type semapv:UnspecifiedMatching MONDO:0010538 Mononen-Karnes-Senac syndrome skos:exactMatch Orphanet:2565 Mononen-Karnes-Senac syndrome semapv:UnspecifiedMatching MONDO:0010538 Mononen-Karnes-Senac syndrome skos:exactMatch SCTID:733095006 semapv:UnspecifiedMatching MONDO:0010538 Mononen-Karnes-Senac syndrome skos:exactMatch UMLS:C1844919 semapv:UnspecifiedMatching MONDO:0010538 Mononen-Karnes-Senac syndrome skos:exactMatch mesh:C535914 semapv:UnspecifiedMatching MONDO:0010539 X-linked mandibulofacial dysostosis skos:exactMatch MEDGEN:375543 semapv:UnspecifiedMatching MONDO:0010539 X-linked mandibulofacial dysostosis skos:exactMatch OMIM:301950 branchial arch syndrome, X-linked semapv:UnspecifiedMatching MONDO:0010539 X-linked mandibulofacial dysostosis skos:exactMatch Orphanet:1131 X-linked mandibulofacial dysostosis semapv:UnspecifiedMatching MONDO:0010539 X-linked mandibulofacial dysostosis skos:exactMatch SCTID:719813003 semapv:UnspecifiedMatching MONDO:0010539 X-linked mandibulofacial dysostosis skos:exactMatch UMLS:C1844918 semapv:UnspecifiedMatching MONDO:0010539 X-linked mandibulofacial dysostosis skos:exactMatch icd11.foundation:135565112 X-linked mandibulofacial dysostosis semapv:UnspecifiedMatching MONDO:0010539 X-linked mandibulofacial dysostosis skos:exactMatch mesh:C537102 semapv:UnspecifiedMatching MONDO:0010540 bullous dystrophy, macular type skos:exactMatch MEDGEN:167089 semapv:UnspecifiedMatching MONDO:0010540 bullous dystrophy, macular type skos:exactMatch OMIM:302000 bullous dystrophy, hereditary macular type semapv:UnspecifiedMatching MONDO:0010540 bullous dystrophy, macular type skos:exactMatch Orphanet:1867 Hereditary bullous dystrophy, macular type semapv:UnspecifiedMatching MONDO:0010540 bullous dystrophy, macular type skos:exactMatch UMLS:C0795974 semapv:UnspecifiedMatching MONDO:0010540 bullous dystrophy, macular type skos:exactMatch mesh:C563065 semapv:UnspecifiedMatching MONDO:0010541 X-linked calvarial hyperostosis skos:exactMatch MEDGEN:1674665 semapv:UnspecifiedMatching MONDO:0010541 X-linked calvarial hyperostosis skos:exactMatch OMIM:302030 calvarial hyperostosis semapv:UnspecifiedMatching MONDO:0010541 X-linked calvarial hyperostosis skos:exactMatch Orphanet:391327 X-linked calvarial hyperostosis semapv:UnspecifiedMatching MONDO:0010541 X-linked calvarial hyperostosis skos:exactMatch UMLS:C5190611 semapv:UnspecifiedMatching MONDO:0010541 X-linked calvarial hyperostosis skos:exactMatch mesh:C537963 semapv:UnspecifiedMatching MONDO:0010542 dilated cardiomyopathy 3B skos:exactMatch DOID:0110461 X-linked dilated cardiomyopathy semapv:UnspecifiedMatching MONDO:0010542 dilated cardiomyopathy 3B skos:exactMatch MEDGEN:777148 semapv:UnspecifiedMatching MONDO:0010542 dilated cardiomyopathy 3B skos:exactMatch OMIM:302045 cardiomyopathy, dilated, 3b semapv:UnspecifiedMatching MONDO:0010542 dilated cardiomyopathy 3B skos:exactMatch SCTID:702424003 semapv:UnspecifiedMatching MONDO:0010542 dilated cardiomyopathy 3B skos:exactMatch UMLS:C3668940 semapv:UnspecifiedMatching MONDO:0010542 dilated cardiomyopathy 3B skos:exactMatch mesh:C580047 semapv:UnspecifiedMatching MONDO:0010543 Barth syndrome skos:exactMatch DOID:0050476 Barth syndrome semapv:UnspecifiedMatching MONDO:0010543 Barth syndrome skos:exactMatch ICD10CM:E78.71 Barth syndrome semapv:UnspecifiedMatching MONDO:0010543 Barth syndrome skos:exactMatch MEDGEN:107893 semapv:UnspecifiedMatching MONDO:0010543 Barth syndrome skos:exactMatch NCIT:C84585 Barth Syndrome semapv:UnspecifiedMatching MONDO:0010543 Barth syndrome skos:exactMatch OMIM:302060 barth syndrome semapv:UnspecifiedMatching MONDO:0010543 Barth syndrome skos:exactMatch Orphanet:111 Barth syndrome semapv:UnspecifiedMatching MONDO:0010543 Barth syndrome skos:exactMatch SCTID:297231002 semapv:UnspecifiedMatching MONDO:0010543 Barth syndrome skos:exactMatch UMLS:C0574083 semapv:UnspecifiedMatching MONDO:0010543 Barth syndrome skos:exactMatch icd11.foundation:452199926 Barth syndrome semapv:UnspecifiedMatching MONDO:0010543 Barth syndrome skos:exactMatch mesh:D056889 semapv:UnspecifiedMatching MONDO:0010544 cataract 40 skos:exactMatch DOID:0110272 cataract 40 semapv:UnspecifiedMatching MONDO:0010544 cataract 40 skos:exactMatch MEDGEN:886621 semapv:UnspecifiedMatching MONDO:0010544 cataract 40 skos:exactMatch OMIM:302200 cataract 40 semapv:UnspecifiedMatching MONDO:0010544 cataract 40 skos:exactMatch UMLS:C4049004 semapv:UnspecifiedMatching MONDO:0010544 cataract 40 skos:exactMatch mesh:C535338 semapv:UnspecifiedMatching MONDO:0010545 Nance-Horan syndrome skos:exactMatch DOID:0060599 Nance-Horan syndrome semapv:UnspecifiedMatching MONDO:0010545 Nance-Horan syndrome skos:exactMatch MEDGEN:208665 semapv:UnspecifiedMatching MONDO:0010545 Nance-Horan syndrome skos:exactMatch OMIM:302350 nance-horan syndrome semapv:UnspecifiedMatching MONDO:0010545 Nance-Horan syndrome skos:exactMatch Orphanet:627 Nance-Horan syndrome semapv:UnspecifiedMatching MONDO:0010545 Nance-Horan syndrome skos:exactMatch SCTID:445257004 semapv:UnspecifiedMatching MONDO:0010545 Nance-Horan syndrome skos:exactMatch UMLS:C0796085 semapv:UnspecifiedMatching MONDO:0010545 Nance-Horan syndrome skos:exactMatch icd11.foundation:938299000 Nance-Horan syndrome semapv:UnspecifiedMatching MONDO:0010545 Nance-Horan syndrome skos:exactMatch mesh:C538336 semapv:UnspecifiedMatching MONDO:0010546 central incisors, absence of skos:exactMatch MEDGEN:337110 semapv:UnspecifiedMatching MONDO:0010546 central incisors, absence of skos:exactMatch OMIM:302400 central incisors, absence of semapv:UnspecifiedMatching MONDO:0010546 central incisors, absence of skos:exactMatch UMLS:C1844886 semapv:UnspecifiedMatching MONDO:0010547 X-linked progressive cerebellar ataxia skos:exactMatch DOID:0111829 X-linked spinocerebellar ataxia 1 semapv:UnspecifiedMatching MONDO:0010547 X-linked progressive cerebellar ataxia skos:exactMatch MEDGEN:163229 semapv:UnspecifiedMatching MONDO:0010547 X-linked progressive cerebellar ataxia skos:exactMatch OMIM:302500 spinocerebellar ataxia, X-linked 1 semapv:UnspecifiedMatching MONDO:0010547 X-linked progressive cerebellar ataxia skos:exactMatch Orphanet:1175 X-linked progressive cerebellar ataxia semapv:UnspecifiedMatching MONDO:0010547 X-linked progressive cerebellar ataxia skos:exactMatch UMLS:C0796205 semapv:UnspecifiedMatching MONDO:0010547 X-linked progressive cerebellar ataxia skos:exactMatch mesh:C563134 semapv:UnspecifiedMatching MONDO:0010548 spinocerebellar ataxia, X-linked 2 skos:exactMatch DOID:0111830 X-linked spinocerebellar ataxia 2 semapv:UnspecifiedMatching MONDO:0010548 spinocerebellar ataxia, X-linked 2 skos:exactMatch MEDGEN:375535 semapv:UnspecifiedMatching MONDO:0010548 spinocerebellar ataxia, X-linked 2 skos:exactMatch OMIM:302600 spinocerebellar ataxia, X-linked 2 semapv:UnspecifiedMatching MONDO:0010548 spinocerebellar ataxia, X-linked 2 skos:exactMatch UMLS:C1844885 semapv:UnspecifiedMatching MONDO:0010548 spinocerebellar ataxia, X-linked 2 skos:exactMatch mesh:C537314 semapv:UnspecifiedMatching MONDO:0010549 Charcot-Marie-Tooth disease X-linked dominant 1 skos:exactMatch DOID:0110209 Charcot-Marie-Tooth disease X-linked dominant 1 semapv:UnspecifiedMatching MONDO:0010549 Charcot-Marie-Tooth disease X-linked dominant 1 skos:exactMatch MEDGEN:337104 semapv:UnspecifiedMatching MONDO:0010549 Charcot-Marie-Tooth disease X-linked dominant 1 skos:exactMatch MEDGEN:98290 semapv:UnspecifiedMatching MONDO:0010549 Charcot-Marie-Tooth disease X-linked dominant 1 skos:exactMatch NCIT:C129068 Charcot-Marie-Tooth Neuropathy X Type 1 semapv:UnspecifiedMatching MONDO:0010549 Charcot-Marie-Tooth disease X-linked dominant 1 skos:exactMatch OMIM:302800 charcot-marie-tooth disease, X-linked dominant, 1 semapv:UnspecifiedMatching MONDO:0010549 Charcot-Marie-Tooth disease X-linked dominant 1 skos:exactMatch Orphanet:101075 X-linked Charcot-Marie-Tooth disease type 1 semapv:UnspecifiedMatching MONDO:0010549 Charcot-Marie-Tooth disease X-linked dominant 1 skos:exactMatch SCTID:763455008 semapv:UnspecifiedMatching MONDO:0010549 Charcot-Marie-Tooth disease X-linked dominant 1 skos:exactMatch UMLS:C0393808 semapv:UnspecifiedMatching MONDO:0010549 Charcot-Marie-Tooth disease X-linked dominant 1 skos:exactMatch UMLS:C1844863 semapv:UnspecifiedMatching MONDO:0010549 Charcot-Marie-Tooth disease X-linked dominant 1 skos:exactMatch mesh:C564446 semapv:UnspecifiedMatching MONDO:0010550 Charcot-Marie-Tooth disease X-linked recessive 2 skos:exactMatch DOID:0110208 Charcot-Marie-Tooth disease X-linked recessive 2 semapv:UnspecifiedMatching MONDO:0010550 Charcot-Marie-Tooth disease X-linked recessive 2 skos:exactMatch MEDGEN:336803 semapv:UnspecifiedMatching MONDO:0010550 Charcot-Marie-Tooth disease X-linked recessive 2 skos:exactMatch OMIM:302801 charcot-marie-tooth disease, X-linked recessive, 2 semapv:UnspecifiedMatching MONDO:0010550 Charcot-Marie-Tooth disease X-linked recessive 2 skos:exactMatch Orphanet:101076 X-linked Charcot-Marie-Tooth disease type 2 semapv:UnspecifiedMatching MONDO:0010550 Charcot-Marie-Tooth disease X-linked recessive 2 skos:exactMatch SCTID:763457000 semapv:UnspecifiedMatching MONDO:0010550 Charcot-Marie-Tooth disease X-linked recessive 2 skos:exactMatch UMLS:C1844873 semapv:UnspecifiedMatching MONDO:0010550 Charcot-Marie-Tooth disease X-linked recessive 2 skos:exactMatch mesh:C535302 semapv:UnspecifiedMatching MONDO:0010551 Charcot-Marie-Tooth disease X-linked recessive 3 skos:exactMatch DOID:0110211 Charcot-Marie-Tooth disease X-linked recessive 3 semapv:UnspecifiedMatching MONDO:0010551 Charcot-Marie-Tooth disease X-linked recessive 3 skos:exactMatch MEDGEN:375530 semapv:UnspecifiedMatching MONDO:0010551 Charcot-Marie-Tooth disease X-linked recessive 3 skos:exactMatch OMIM:302802 charcot-marie-tooth disease, X-linked recessive, 3 semapv:UnspecifiedMatching MONDO:0010551 Charcot-Marie-Tooth disease X-linked recessive 3 skos:exactMatch Orphanet:101077 X-linked Charcot-Marie-Tooth disease type 3 semapv:UnspecifiedMatching MONDO:0010551 Charcot-Marie-Tooth disease X-linked recessive 3 skos:exactMatch SCTID:763458005 semapv:UnspecifiedMatching MONDO:0010551 Charcot-Marie-Tooth disease X-linked recessive 3 skos:exactMatch UMLS:C1844865 semapv:UnspecifiedMatching MONDO:0010551 Charcot-Marie-Tooth disease X-linked recessive 3 skos:exactMatch mesh:C535303 semapv:UnspecifiedMatching MONDO:0010552 Charcot-Marie-Tooth peroneal muscular atrophy, X-linked, with aplasia cutis congenita skos:exactMatch MEDGEN:337105 semapv:UnspecifiedMatching MONDO:0010552 Charcot-Marie-Tooth peroneal muscular atrophy, X-linked, with aplasia cutis congenita skos:exactMatch OMIM:302803 charcot-marie-tooth peroneal muscular atrophy, x-linked, with aplasia cutis congenita semapv:UnspecifiedMatching MONDO:0010552 Charcot-Marie-Tooth peroneal muscular atrophy, X-linked, with aplasia cutis congenita skos:exactMatch UMLS:C1844864 semapv:UnspecifiedMatching MONDO:0010552 Charcot-Marie-Tooth peroneal muscular atrophy, X-linked, with aplasia cutis congenita skos:exactMatch mesh:C538077 semapv:UnspecifiedMatching MONDO:0010554 Abruzzo-Erickson syndrome skos:exactMatch DOID:0111826 Abruzzo-Erickson syndrome semapv:UnspecifiedMatching MONDO:0010554 Abruzzo-Erickson syndrome skos:exactMatch MEDGEN:375529 semapv:UnspecifiedMatching MONDO:0010554 Abruzzo-Erickson syndrome skos:exactMatch OMIM:302905 abruzzo-erickson syndrome semapv:UnspecifiedMatching MONDO:0010554 Abruzzo-Erickson syndrome skos:exactMatch Orphanet:921 Abruzzo-Erickson syndrome semapv:UnspecifiedMatching MONDO:0010554 Abruzzo-Erickson syndrome skos:exactMatch SCTID:718574003 semapv:UnspecifiedMatching MONDO:0010554 Abruzzo-Erickson syndrome skos:exactMatch UMLS:C1844862 semapv:UnspecifiedMatching MONDO:0010554 Abruzzo-Erickson syndrome skos:exactMatch mesh:C535559 semapv:UnspecifiedMatching MONDO:0010555 X-linked chondrodysplasia punctata 1 skos:exactMatch MEDGEN:777171 semapv:UnspecifiedMatching MONDO:0010555 X-linked chondrodysplasia punctata 1 skos:exactMatch OMIM:302950 chondrodysplasia punctata 1, X-linked recessive semapv:UnspecifiedMatching MONDO:0010555 X-linked chondrodysplasia punctata 1 skos:exactMatch Orphanet:79345 Brachytelephalangic chondrodysplasia punctata semapv:UnspecifiedMatching MONDO:0010555 X-linked chondrodysplasia punctata 1 skos:exactMatch UMLS:C3669395 semapv:UnspecifiedMatching MONDO:0010556 X-linked chondrodysplasia punctata skos:exactMatch DOID:0060292 X-linked chondrodysplasia punctata 1 semapv:UnspecifiedMatching MONDO:0010556 X-linked chondrodysplasia punctata skos:exactMatch MEDGEN:538019 semapv:UnspecifiedMatching MONDO:0010556 X-linked chondrodysplasia punctata skos:exactMatch UMLS:C0263627 semapv:UnspecifiedMatching MONDO:0010557 choroideremia skos:exactMatch DOID:9821 choroideremia semapv:UnspecifiedMatching MONDO:0010557 choroideremia skos:exactMatch ICD10CM:H31.21 Choroideremia semapv:UnspecifiedMatching MONDO:0010557 choroideremia skos:exactMatch MEDGEN:944 semapv:UnspecifiedMatching MONDO:0010557 choroideremia skos:exactMatch NCIT:C34469 Choroideremia semapv:UnspecifiedMatching MONDO:0010557 choroideremia skos:exactMatch OMIM:303100 choroideremia semapv:UnspecifiedMatching MONDO:0010557 choroideremia skos:exactMatch Orphanet:180 Choroideremia semapv:UnspecifiedMatching MONDO:0010557 choroideremia skos:exactMatch SCTID:75241009 semapv:UnspecifiedMatching MONDO:0010557 choroideremia skos:exactMatch UMLS:C0008525 semapv:UnspecifiedMatching MONDO:0010557 choroideremia skos:exactMatch icd11.foundation:217923263 Choroideremia semapv:UnspecifiedMatching MONDO:0010557 choroideremia skos:exactMatch mesh:D015794 semapv:UnspecifiedMatching MONDO:0010558 choroideremia-deafness-obesity syndrome skos:exactMatch MEDGEN:763933 semapv:UnspecifiedMatching MONDO:0010558 choroideremia-deafness-obesity syndrome skos:exactMatch OMIM:303110 chromosome xq21 deletion syndrome semapv:UnspecifiedMatching MONDO:0010558 choroideremia-deafness-obesity syndrome skos:exactMatch Orphanet:1435 Xq21 microdeletion syndrome semapv:UnspecifiedMatching MONDO:0010558 choroideremia-deafness-obesity syndrome skos:exactMatch SCTID:717761005 semapv:UnspecifiedMatching MONDO:0010558 choroideremia-deafness-obesity syndrome skos:exactMatch UMLS:C3551019 semapv:UnspecifiedMatching MONDO:0010558 choroideremia-deafness-obesity syndrome skos:exactMatch mesh:C537793 semapv:UnspecifiedMatching MONDO:0010559 MASA syndrome skos:exactMatch DOID:0060246 MASA syndrome semapv:UnspecifiedMatching MONDO:0010559 MASA syndrome skos:exactMatch MEDGEN:162894 semapv:UnspecifiedMatching MONDO:0010559 MASA syndrome skos:exactMatch NCIT:C129930 MASA Syndrome semapv:UnspecifiedMatching MONDO:0010559 MASA syndrome skos:exactMatch OMIM:303350 masa syndrome semapv:UnspecifiedMatching MONDO:0010559 MASA syndrome skos:exactMatch Orphanet:2466 MASA syndrome semapv:UnspecifiedMatching MONDO:0010559 MASA syndrome skos:exactMatch SCTID:716996008 semapv:UnspecifiedMatching MONDO:0010559 MASA syndrome skos:exactMatch UMLS:C0795953 semapv:UnspecifiedMatching MONDO:0010559 MASA syndrome skos:exactMatch icd11.foundation:1973644723 MASA syndrome semapv:UnspecifiedMatching MONDO:0010560 cleft palate with or without ankyloglossia, X-linked skos:exactMatch DOID:0060613 X-linked cleft palate with or without ankyloglossia semapv:UnspecifiedMatching MONDO:0010560 cleft palate with or without ankyloglossia, X-linked skos:exactMatch MEDGEN:375520 semapv:UnspecifiedMatching MONDO:0010560 cleft palate with or without ankyloglossia, X-linked skos:exactMatch OMIM:303400 cleft palate with or without ankyloglossia, X-linked semapv:UnspecifiedMatching MONDO:0010560 cleft palate with or without ankyloglossia, X-linked skos:exactMatch Orphanet:324601 X-linked cleft palate and ankyloglossia semapv:UnspecifiedMatching MONDO:0010560 cleft palate with or without ankyloglossia, X-linked skos:exactMatch SCTID:766761000 semapv:UnspecifiedMatching MONDO:0010560 cleft palate with or without ankyloglossia, X-linked skos:exactMatch UMLS:C1844830 semapv:UnspecifiedMatching MONDO:0010560 cleft palate with or without ankyloglossia, X-linked skos:exactMatch mesh:C536426 semapv:UnspecifiedMatching MONDO:0010561 Coffin-Lowry syndrome skos:exactMatch DOID:3783 Coffin-Lowry syndrome semapv:UnspecifiedMatching MONDO:0010561 Coffin-Lowry syndrome skos:exactMatch MEDGEN:75556 semapv:UnspecifiedMatching MONDO:0010561 Coffin-Lowry syndrome skos:exactMatch NCIT:C84643 Coffin-Lowry Syndrome semapv:UnspecifiedMatching MONDO:0010561 Coffin-Lowry syndrome skos:exactMatch OMIM:303600 coffin-lowry syndrome semapv:UnspecifiedMatching MONDO:0010561 Coffin-Lowry syndrome skos:exactMatch Orphanet:192 Coffin-Lowry syndrome semapv:UnspecifiedMatching MONDO:0010561 Coffin-Lowry syndrome skos:exactMatch SCTID:15182000 semapv:UnspecifiedMatching MONDO:0010561 Coffin-Lowry syndrome skos:exactMatch UMLS:C0265252 semapv:UnspecifiedMatching MONDO:0010561 Coffin-Lowry syndrome skos:exactMatch icd11.foundation:380089065 Coffin-Lowry syndrome semapv:UnspecifiedMatching MONDO:0010561 Coffin-Lowry syndrome skos:exactMatch mesh:C536435 semapv:UnspecifiedMatching MONDO:0010561 Coffin-Lowry syndrome skos:exactMatch mesh:D038921 semapv:UnspecifiedMatching MONDO:0010562 colonic atresia skos:exactMatch MEDGEN:75605 semapv:UnspecifiedMatching MONDO:0010562 colonic atresia skos:exactMatch NCIT:C101024 Colon Atresia semapv:UnspecifiedMatching MONDO:0010562 colonic atresia skos:exactMatch OMIM:303650 colonic atresia semapv:UnspecifiedMatching MONDO:0010562 colonic atresia skos:exactMatch Orphanet:1198 Colonic atresia semapv:UnspecifiedMatching MONDO:0010562 colonic atresia skos:exactMatch SCTID:37054000 semapv:UnspecifiedMatching MONDO:0010562 colonic atresia skos:exactMatch UMLS:C0266190 semapv:UnspecifiedMatching MONDO:0010562 colonic atresia skos:exactMatch mesh:C562562 semapv:UnspecifiedMatching MONDO:0010563 blue cone monochromacy skos:exactMatch DOID:0050679 blue cone monochromacy semapv:UnspecifiedMatching MONDO:0010563 blue cone monochromacy skos:exactMatch MEDGEN:87386 semapv:UnspecifiedMatching MONDO:0010563 blue cone monochromacy skos:exactMatch OMIM:303700 blue cone monochromacy semapv:UnspecifiedMatching MONDO:0010563 blue cone monochromacy skos:exactMatch Orphanet:16 Blue cone monochromatism semapv:UnspecifiedMatching MONDO:0010563 blue cone monochromacy skos:exactMatch SCTID:24704003 semapv:UnspecifiedMatching MONDO:0010563 blue cone monochromacy skos:exactMatch UMLS:C0339537 semapv:UnspecifiedMatching MONDO:0010563 blue cone monochromacy skos:exactMatch mesh:C536238 semapv:UnspecifiedMatching MONDO:0010564 red-green color blindness skos:exactMatch DOID:13909 red-green color blindness semapv:UnspecifiedMatching MONDO:0010564 red-green color blindness skos:exactMatch EFO:0005581 semapv:UnspecifiedMatching MONDO:0010564 red-green color blindness skos:exactMatch ICD10CM:H53.53 Deuteranomaly semapv:UnspecifiedMatching MONDO:0010564 red-green color blindness skos:exactMatch MEDGEN:102324 semapv:UnspecifiedMatching MONDO:0010564 red-green color blindness skos:exactMatch OMIM:303800 colorblindness, partial, deutan series semapv:UnspecifiedMatching MONDO:0010564 red-green color blindness skos:exactMatch SCTID:77479002 semapv:UnspecifiedMatching MONDO:0010564 red-green color blindness skos:exactMatch UMLS:C0155016 semapv:UnspecifiedMatching MONDO:0010565 red color blindness skos:exactMatch DOID:13910 red color blindness semapv:UnspecifiedMatching MONDO:0010565 red color blindness skos:exactMatch EFO:0005580 semapv:UnspecifiedMatching MONDO:0010565 red color blindness skos:exactMatch ICD10CM:H53.54 Protanomaly semapv:UnspecifiedMatching MONDO:0010565 red color blindness skos:exactMatch MEDGEN:56350 semapv:UnspecifiedMatching MONDO:0010565 red color blindness skos:exactMatch OMIM:303900 colorblindness, partial, protan series semapv:UnspecifiedMatching MONDO:0010565 red color blindness skos:exactMatch SCTID:51445007 semapv:UnspecifiedMatching MONDO:0010565 red color blindness skos:exactMatch UMLS:C0155015 semapv:UnspecifiedMatching MONDO:0010566 X-linked cone-rod dystrophy 1 skos:exactMatch DOID:0111008 X-linked cone-rod dystrophy 1 semapv:UnspecifiedMatching MONDO:0010566 X-linked cone-rod dystrophy 1 skos:exactMatch MEDGEN:336777 semapv:UnspecifiedMatching MONDO:0010566 X-linked cone-rod dystrophy 1 skos:exactMatch OMIM:304020 cone-rod dystrophy, x-linked, 1 semapv:UnspecifiedMatching MONDO:0010566 X-linked cone-rod dystrophy 1 skos:exactMatch UMLS:C1844776 semapv:UnspecifiedMatching MONDO:0010566 X-linked cone-rod dystrophy 1 skos:exactMatch mesh:C564438 semapv:UnspecifiedMatching MONDO:0010567 cone dystrophy, X-linked, with tapetal-like sheen skos:exactMatch MEDGEN:336776 semapv:UnspecifiedMatching MONDO:0010567 cone dystrophy, X-linked, with tapetal-like sheen skos:exactMatch OMIM:304030 cone dystrophy, x-linked, with tapetal-like sheen semapv:UnspecifiedMatching MONDO:0010567 cone dystrophy, X-linked, with tapetal-like sheen skos:exactMatch UMLS:C1844775 semapv:UnspecifiedMatching MONDO:0010567 cone dystrophy, X-linked, with tapetal-like sheen skos:exactMatch mesh:C535975 semapv:UnspecifiedMatching MONDO:0010568 Aicardi syndrome skos:exactMatch DOID:8461 Aicardi syndrome semapv:UnspecifiedMatching MONDO:0010568 Aicardi syndrome skos:exactMatch MEDGEN:61236 semapv:UnspecifiedMatching MONDO:0010568 Aicardi syndrome skos:exactMatch NCIT:C35256 Aicardi Syndrome semapv:UnspecifiedMatching MONDO:0010568 Aicardi syndrome skos:exactMatch OMIM:304050 aicardi syndrome semapv:UnspecifiedMatching MONDO:0010568 Aicardi syndrome skos:exactMatch Orphanet:50 Aicardi syndrome semapv:UnspecifiedMatching MONDO:0010568 Aicardi syndrome skos:exactMatch SCTID:80651009 semapv:UnspecifiedMatching MONDO:0010568 Aicardi syndrome skos:exactMatch UMLS:C0175713 semapv:UnspecifiedMatching MONDO:0010568 Aicardi syndrome skos:exactMatch icd11.foundation:2057245946 Aicardi syndrome semapv:UnspecifiedMatching MONDO:0010568 Aicardi syndrome skos:exactMatch mesh:D058540 semapv:UnspecifiedMatching MONDO:0010569 X-linked complicated corpus callosum dysgenesis skos:exactMatch MEDGEN:374339 semapv:UnspecifiedMatching MONDO:0010569 X-linked complicated corpus callosum dysgenesis skos:exactMatch OMIM:304100 corpus callosum, partial agenesis of, X-linked semapv:UnspecifiedMatching MONDO:0010569 X-linked complicated corpus callosum dysgenesis skos:exactMatch Orphanet:1497 X-linked complicated corpus callosum dysgenesis semapv:UnspecifiedMatching MONDO:0010569 X-linked complicated corpus callosum dysgenesis skos:exactMatch UMLS:C1839909 semapv:UnspecifiedMatching MONDO:0010569 X-linked complicated corpus callosum dysgenesis skos:exactMatch icd11.foundation:1765391162 X-linked complicated corpus callosum dysgenesis semapv:UnspecifiedMatching MONDO:0010569 X-linked complicated corpus callosum dysgenesis skos:exactMatch mesh:C564115 semapv:UnspecifiedMatching MONDO:0010570 craniofrontonasal syndrome skos:exactMatch DOID:14737 craniofrontonasal syndrome semapv:UnspecifiedMatching MONDO:0010570 craniofrontonasal syndrome skos:exactMatch MEDGEN:65095 semapv:UnspecifiedMatching MONDO:0010570 craniofrontonasal syndrome skos:exactMatch OMIM:304110 craniofrontonasal syndrome semapv:UnspecifiedMatching MONDO:0010570 craniofrontonasal syndrome skos:exactMatch Orphanet:1520 Craniofrontonasal dysplasia semapv:UnspecifiedMatching MONDO:0010570 craniofrontonasal syndrome skos:exactMatch SCTID:715421009 semapv:UnspecifiedMatching MONDO:0010570 craniofrontonasal syndrome skos:exactMatch UMLS:C0220767 semapv:UnspecifiedMatching MONDO:0010570 craniofrontonasal syndrome skos:exactMatch mesh:C536456 semapv:UnspecifiedMatching MONDO:0010571 otopalatodigital syndrome type 2 skos:exactMatch DOID:0111784 otopalatodigital syndrome type 2 semapv:UnspecifiedMatching MONDO:0010571 otopalatodigital syndrome type 2 skos:exactMatch MEDGEN:337064 semapv:UnspecifiedMatching MONDO:0010571 otopalatodigital syndrome type 2 skos:exactMatch OMIM:304120 otopalatodigital syndrome, type 2 semapv:UnspecifiedMatching MONDO:0010571 otopalatodigital syndrome type 2 skos:exactMatch Orphanet:90652 Otopalatodigital syndrome type 2 semapv:UnspecifiedMatching MONDO:0010571 otopalatodigital syndrome type 2 skos:exactMatch SCTID:42432003 semapv:UnspecifiedMatching MONDO:0010571 otopalatodigital syndrome type 2 skos:exactMatch UMLS:C1844696 semapv:UnspecifiedMatching MONDO:0010571 otopalatodigital syndrome type 2 skos:exactMatch icd11.foundation:1897308206 Otopalatodigital syndrome type 2 semapv:UnspecifiedMatching MONDO:0010571 otopalatodigital syndrome type 2 skos:exactMatch mesh:C538089 semapv:UnspecifiedMatching MONDO:0010572 occipital horn syndrome skos:exactMatch DOID:0111272 occipital horn syndrome semapv:UnspecifiedMatching MONDO:0010572 occipital horn syndrome skos:exactMatch MEDGEN:82793 semapv:UnspecifiedMatching MONDO:0010572 occipital horn syndrome skos:exactMatch OMIM:304150 occipital horn syndrome semapv:UnspecifiedMatching MONDO:0010572 occipital horn syndrome skos:exactMatch Orphanet:198 Occipital horn syndrome semapv:UnspecifiedMatching MONDO:0010572 occipital horn syndrome skos:exactMatch SCTID:59399004 semapv:UnspecifiedMatching MONDO:0010572 occipital horn syndrome skos:exactMatch UMLS:C0268353 semapv:UnspecifiedMatching MONDO:0010572 occipital horn syndrome skos:exactMatch mesh:C537860 semapv:UnspecifiedMatching MONDO:0010573 cutis verticis gyrata, thyroid aplasia, and intellectual disability skos:exactMatch MEDGEN:162779 semapv:UnspecifiedMatching MONDO:0010573 cutis verticis gyrata, thyroid aplasia, and intellectual disability skos:exactMatch OMIM:304200 cutis verticis gyrata, thyroid aplasia, and impaired intellectual development semapv:UnspecifiedMatching MONDO:0010573 cutis verticis gyrata, thyroid aplasia, and intellectual disability skos:exactMatch UMLS:C0795848 semapv:UnspecifiedMatching MONDO:0010573 cutis verticis gyrata, thyroid aplasia, and intellectual disability skos:exactMatch mesh:C535610 semapv:UnspecifiedMatching MONDO:0010574 syndromic X-linked intellectual disability 5 skos:exactMatch DOID:0060800 syndromic X-linked intellectual disability 5 semapv:UnspecifiedMatching MONDO:0010574 syndromic X-linked intellectual disability 5 skos:exactMatch MEDGEN:162924 semapv:UnspecifiedMatching MONDO:0010574 syndromic X-linked intellectual disability 5 skos:exactMatch NCIT:C124839 Pettigrew Syndrome semapv:UnspecifiedMatching MONDO:0010574 syndromic X-linked intellectual disability 5 skos:exactMatch OMIM:304340 pettigrew syndrome semapv:UnspecifiedMatching MONDO:0010574 syndromic X-linked intellectual disability 5 skos:exactMatch Orphanet:1568 X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome semapv:UnspecifiedMatching MONDO:0010574 syndromic X-linked intellectual disability 5 skos:exactMatch Orphanet:85329 X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome semapv:UnspecifiedMatching MONDO:0010574 syndromic X-linked intellectual disability 5 skos:exactMatch SCTID:719139003 semapv:UnspecifiedMatching MONDO:0010574 syndromic X-linked intellectual disability 5 skos:exactMatch UMLS:C0796254 semapv:UnspecifiedMatching MONDO:0010575 deafness-hypogonadism syndrome skos:exactMatch MEDGEN:335003 semapv:UnspecifiedMatching MONDO:0010575 deafness-hypogonadism syndrome skos:exactMatch OMIM:304350 deafness-hypogonadism syndrome semapv:UnspecifiedMatching MONDO:0010575 deafness-hypogonadism syndrome skos:exactMatch Orphanet:90646 Deafness-hypogonadism syndrome semapv:UnspecifiedMatching MONDO:0010575 deafness-hypogonadism syndrome skos:exactMatch UMLS:C1844680 semapv:UnspecifiedMatching MONDO:0010575 deafness-hypogonadism syndrome skos:exactMatch mesh:C564435 semapv:UnspecifiedMatching MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher skos:exactMatch DOID:0111737 X-linked deafness 2 semapv:UnspecifiedMatching MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher skos:exactMatch MEDGEN:336750 semapv:UnspecifiedMatching MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher skos:exactMatch OMIM:304400 deafness, X-linked 2 semapv:UnspecifiedMatching MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher skos:exactMatch UMLS:C1844678 semapv:UnspecifiedMatching MONDO:0010577 hearing loss, X-linked 1 skos:exactMatch DOID:0111739 X-linked deafness 1 semapv:UnspecifiedMatching MONDO:0010577 hearing loss, X-linked 1 skos:exactMatch MEDGEN:336749 semapv:UnspecifiedMatching MONDO:0010577 hearing loss, X-linked 1 skos:exactMatch OMIM:304500 deafness, X-linked 1 semapv:UnspecifiedMatching MONDO:0010577 hearing loss, X-linked 1 skos:exactMatch UMLS:C1844677 semapv:UnspecifiedMatching MONDO:0010577 hearing loss, X-linked 1 skos:exactMatch mesh:C564433 semapv:UnspecifiedMatching MONDO:0010578 deafness dystonia syndrome skos:exactMatch DOID:0050757 deafness-dystonia-optic neuronopathy syndrome semapv:UnspecifiedMatching MONDO:0010578 deafness dystonia syndrome skos:exactMatch MEDGEN:162903 semapv:UnspecifiedMatching MONDO:0010578 deafness dystonia syndrome skos:exactMatch OMIM:304700 mohr-tranebjaerg syndrome semapv:UnspecifiedMatching MONDO:0010578 deafness dystonia syndrome skos:exactMatch Orphanet:52368 Mohr-Tranebjaerg syndrome semapv:UnspecifiedMatching MONDO:0010578 deafness dystonia syndrome skos:exactMatch SCTID:702423009 semapv:UnspecifiedMatching MONDO:0010578 deafness dystonia syndrome skos:exactMatch UMLS:C0796074 semapv:UnspecifiedMatching MONDO:0010578 deafness dystonia syndrome skos:exactMatch mesh:C535808 semapv:UnspecifiedMatching MONDO:0010579 X-linked corneal dermoid skos:exactMatch MEDGEN:375481 semapv:UnspecifiedMatching MONDO:0010579 X-linked corneal dermoid skos:exactMatch OMIM:304730 dermoids of cornea semapv:UnspecifiedMatching MONDO:0010579 X-linked corneal dermoid skos:exactMatch Orphanet:1661 X-linked corneal dermoid semapv:UnspecifiedMatching MONDO:0010579 X-linked corneal dermoid skos:exactMatch SCTID:715426004 semapv:UnspecifiedMatching MONDO:0010579 X-linked corneal dermoid skos:exactMatch UMLS:C1844671 semapv:UnspecifiedMatching MONDO:0010579 X-linked corneal dermoid skos:exactMatch icd11.foundation:118076382 X-linked corneal dermoid semapv:UnspecifiedMatching MONDO:0010579 X-linked corneal dermoid skos:exactMatch mesh:C535376 semapv:UnspecifiedMatching MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome skos:exactMatch DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome semapv:UnspecifiedMatching MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome skos:exactMatch MEDGEN:83339 semapv:UnspecifiedMatching MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome skos:exactMatch NCIT:C131009 Immune Dysregulation, Polyendocrinopathy, and Enteropathy X-Linked Syndrome semapv:UnspecifiedMatching MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome skos:exactMatch OMIM:304790 immunodysregulation, polyendocrinopathy, and enteropathy, X-linked semapv:UnspecifiedMatching MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome skos:exactMatch Orphanet:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome semapv:UnspecifiedMatching MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome skos:exactMatch SCTID:237618001 semapv:UnspecifiedMatching MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome skos:exactMatch UMLS:C0342288 semapv:UnspecifiedMatching MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome skos:exactMatch icd11.foundation:1060287444 X-linked immune dysregulation polyendocrinopathy enteropathy semapv:UnspecifiedMatching MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome skos:exactMatch mesh:C580192 semapv:UnspecifiedMatching MONDO:0010581 diabetes insipidus, nephrogenic, X-linked skos:exactMatch DOID:0081060 X-linked nephrogenic diabetes insipidus semapv:UnspecifiedMatching MONDO:0010581 diabetes insipidus, nephrogenic, X-linked skos:exactMatch MEDGEN:288785 semapv:UnspecifiedMatching MONDO:0010581 diabetes insipidus, nephrogenic, X-linked skos:exactMatch OMIM:304800 diabetes insipidus, nephrogenic, 1, X-linked semapv:UnspecifiedMatching MONDO:0010581 diabetes insipidus, nephrogenic, X-linked skos:exactMatch UMLS:C1563705 semapv:UnspecifiedMatching MONDO:0010582 obsolete diabetes insipidus, neurohypophyseal type, X-linked inheritance skos:exactMatch DOID:0081059 X-linked central diabetes insipidus semapv:UnspecifiedMatching MONDO:0010582 obsolete diabetes insipidus, neurohypophyseal type, X-linked inheritance skos:exactMatch OMIM:304900 diabetes insipidus, neurohypophyseal, X-linked semapv:UnspecifiedMatching MONDO:0010583 Dyggve-Melchior-Clausen syndrome, X-linked skos:exactMatch MEDGEN:337052 semapv:UnspecifiedMatching MONDO:0010583 Dyggve-Melchior-Clausen syndrome, X-linked skos:exactMatch OMIM:304950 dyggve-melchior-clausen syndrome, X-linked semapv:UnspecifiedMatching MONDO:0010583 Dyggve-Melchior-Clausen syndrome, X-linked skos:exactMatch UMLS:C1844654 semapv:UnspecifiedMatching MONDO:0010584 dyskeratosis congenita, X-linked skos:exactMatch DOID:0070025 X-linked dyskeratosis congenita semapv:UnspecifiedMatching MONDO:0010584 dyskeratosis congenita, X-linked skos:exactMatch MEDGEN:216941 semapv:UnspecifiedMatching MONDO:0010584 dyskeratosis congenita, X-linked skos:exactMatch NCIT:C126352 X-Linked Dyskeratosis Congenita semapv:UnspecifiedMatching MONDO:0010584 dyskeratosis congenita, X-linked skos:exactMatch OMIM:305000 dyskeratosis congenita, X-linked semapv:UnspecifiedMatching MONDO:0010584 dyskeratosis congenita, X-linked skos:exactMatch SCTID:708536001 semapv:UnspecifiedMatching MONDO:0010584 dyskeratosis congenita, X-linked skos:exactMatch UMLS:C1148551 semapv:UnspecifiedMatching MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:exactMatch DOID:0111664 ectodermal dysplasia 1 semapv:UnspecifiedMatching MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:exactMatch MEDGEN:57890 semapv:UnspecifiedMatching MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:exactMatch OMIM:305100 ectodermal dysplasia 1, hypohidrotic, X-linked semapv:UnspecifiedMatching MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:exactMatch Orphanet:181 X-linked hypohidrotic ectodermal dysplasia semapv:UnspecifiedMatching MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:exactMatch SCTID:239007005 semapv:UnspecifiedMatching MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:exactMatch UMLS:C0162359 semapv:UnspecifiedMatching MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:exactMatch icd11.foundation:941793098 X-linked hypohidrotic ectodermal dysplasia semapv:UnspecifiedMatching MONDO:0010586 X-linked Ehlers-Danlos syndrome skos:exactMatch MEDGEN:75671 semapv:UnspecifiedMatching MONDO:0010586 X-linked Ehlers-Danlos syndrome skos:exactMatch NCIT:C141423 Ehlers-Danlos Syndrome, Type V semapv:UnspecifiedMatching MONDO:0010586 X-linked Ehlers-Danlos syndrome skos:exactMatch Orphanet:75497 X-linked Ehlers-Danlos syndrome semapv:UnspecifiedMatching MONDO:0010586 X-linked Ehlers-Danlos syndrome skos:exactMatch SCTID:67202007 semapv:UnspecifiedMatching MONDO:0010586 X-linked Ehlers-Danlos syndrome skos:exactMatch UMLS:C0268341 semapv:UnspecifiedMatching MONDO:0010586 X-linked Ehlers-Danlos syndrome skos:exactMatch mesh:C536197 semapv:UnspecifiedMatching MONDO:0010587 epidermodysplasia verruciformis, X-linked skos:exactMatch MEDGEN:337033 semapv:UnspecifiedMatching MONDO:0010587 epidermodysplasia verruciformis, X-linked skos:exactMatch OMIM:305350 epidermodysplasia verruciformis, x-linked, susceptibility to semapv:UnspecifiedMatching MONDO:0010587 epidermodysplasia verruciformis, X-linked skos:exactMatch UMLS:C1844589 semapv:UnspecifiedMatching MONDO:0010587 epidermodysplasia verruciformis, X-linked skos:exactMatch mesh:C564430 semapv:UnspecifiedMatching MONDO:0010588 exudative vitreoretinopathy 2, X-linked skos:exactMatch DOID:0111413 X-linked exudative vitreoretinopathy 2 semapv:UnspecifiedMatching MONDO:0010588 exudative vitreoretinopathy 2, X-linked skos:exactMatch MEDGEN:337030 semapv:UnspecifiedMatching MONDO:0010588 exudative vitreoretinopathy 2, X-linked skos:exactMatch OMIM:305390 exudative vitreoretinopathy 2, X-linked semapv:UnspecifiedMatching MONDO:0010588 exudative vitreoretinopathy 2, X-linked skos:exactMatch UMLS:C1844579 semapv:UnspecifiedMatching MONDO:0010588 exudative vitreoretinopathy 2, X-linked skos:exactMatch mesh:C564428 semapv:UnspecifiedMatching MONDO:0010589 Aarskog-Scott syndrome, X-linked skos:exactMatch DOID:6683 X-linked Aarskog syndrome semapv:UnspecifiedMatching MONDO:0010589 Aarskog-Scott syndrome, X-linked skos:exactMatch MEDGEN:61234 semapv:UnspecifiedMatching MONDO:0010589 Aarskog-Scott syndrome, X-linked skos:exactMatch NCIT:C129720 Aarskog Syndrome semapv:UnspecifiedMatching MONDO:0010589 Aarskog-Scott syndrome, X-linked skos:exactMatch OMIM:305400 aarskog-scott syndrome semapv:UnspecifiedMatching MONDO:0010589 Aarskog-Scott syndrome, X-linked skos:exactMatch SCTID:14921002 semapv:UnspecifiedMatching MONDO:0010589 Aarskog-Scott syndrome, X-linked skos:exactMatch UMLS:C0175701 semapv:UnspecifiedMatching MONDO:0010589 Aarskog-Scott syndrome, X-linked skos:exactMatch mesh:C535331 semapv:UnspecifiedMatching MONDO:0010590 FG syndrome 1 skos:exactMatch MEDGEN:1768809 semapv:UnspecifiedMatching MONDO:0010590 FG syndrome 1 skos:exactMatch OMIM:305450 opitz-kaveggia syndrome semapv:UnspecifiedMatching MONDO:0010590 FG syndrome 1 skos:exactMatch Orphanet:93932 FG syndrome type 1 semapv:UnspecifiedMatching MONDO:0010590 FG syndrome 1 skos:exactMatch SCTID:1237179007 semapv:UnspecifiedMatching MONDO:0010590 FG syndrome 1 skos:exactMatch UMLS:C5399762 semapv:UnspecifiedMatching MONDO:0010591 fingerprint body myopathy skos:exactMatch MEDGEN:337026 semapv:UnspecifiedMatching MONDO:0010591 fingerprint body myopathy skos:exactMatch OMIM:305550 fingerprint body myopathy semapv:UnspecifiedMatching MONDO:0010591 fingerprint body myopathy skos:exactMatch Orphanet:97232 Fingerprint body myopathy semapv:UnspecifiedMatching MONDO:0010591 fingerprint body myopathy skos:exactMatch UMLS:C1844560 semapv:UnspecifiedMatching MONDO:0010591 fingerprint body myopathy skos:exactMatch icd11.foundation:1251733531 Fingerprint body myopathy semapv:UnspecifiedMatching MONDO:0010591 fingerprint body myopathy skos:exactMatch mesh:C564425 semapv:UnspecifiedMatching MONDO:0010592 focal dermal hypoplasia skos:exactMatch DOID:2120 focal dermal hypoplasia semapv:UnspecifiedMatching MONDO:0010592 focal dermal hypoplasia skos:exactMatch MEDGEN:42055 semapv:UnspecifiedMatching MONDO:0010592 focal dermal hypoplasia skos:exactMatch NCIT:C84715 Focal Dermal Hypoplasia semapv:UnspecifiedMatching MONDO:0010592 focal dermal hypoplasia skos:exactMatch OMIM:305600 focal dermal hypoplasia semapv:UnspecifiedMatching MONDO:0010592 focal dermal hypoplasia skos:exactMatch Orphanet:2092 Focal dermal hypoplasia semapv:UnspecifiedMatching MONDO:0010592 focal dermal hypoplasia skos:exactMatch SCTID:205573006 semapv:UnspecifiedMatching MONDO:0010592 focal dermal hypoplasia skos:exactMatch UMLS:C0016395 semapv:UnspecifiedMatching MONDO:0010592 focal dermal hypoplasia skos:exactMatch icd11.foundation:683166625 Focal dermal hypoplasia semapv:UnspecifiedMatching MONDO:0010592 focal dermal hypoplasia skos:exactMatch mesh:D005489 semapv:UnspecifiedMatching MONDO:0010594 obsolete inherited genitourinary tract anomalies skos:exactMatch OMIM:305690 genitourinary tract anomalies semapv:UnspecifiedMatching MONDO:0010594 obsolete inherited genitourinary tract anomalies skos:exactMatch mesh:C564424 semapv:UnspecifiedMatching MONDO:0010595 obsolete Sertoli cell-only syndrome skos:exactMatch EFO:1001422 semapv:UnspecifiedMatching MONDO:0010596 membranoproliferative glomerulonephritis, X-linked skos:exactMatch MEDGEN:336706 semapv:UnspecifiedMatching MONDO:0010596 membranoproliferative glomerulonephritis, X-linked skos:exactMatch OMIM:305800 membranoproliferative glomerulonephritis, X-linked semapv:UnspecifiedMatching MONDO:0010596 membranoproliferative glomerulonephritis, X-linked skos:exactMatch UMLS:C1844501 semapv:UnspecifiedMatching MONDO:0010596 membranoproliferative glomerulonephritis, X-linked skos:exactMatch mesh:C564423 semapv:UnspecifiedMatching MONDO:0010597 glutamyl ribose-5-phosphate storage disease skos:exactMatch MEDGEN:336179 semapv:UnspecifiedMatching MONDO:0010597 glutamyl ribose-5-phosphate storage disease skos:exactMatch OMIM:305920 glutamyl ribose-5-phosphate storage disease semapv:UnspecifiedMatching MONDO:0010597 glutamyl ribose-5-phosphate storage disease skos:exactMatch UMLS:C1844440 semapv:UnspecifiedMatching MONDO:0010597 glutamyl ribose-5-phosphate storage disease skos:exactMatch mesh:C564422 semapv:UnspecifiedMatching MONDO:0010598 glycogen storage disease IXa1 skos:exactMatch DOID:0111042 glycogen storage disease IXa semapv:UnspecifiedMatching MONDO:0010598 glycogen storage disease IXa1 skos:exactMatch DOID:2751 glycogen storage disease VIII semapv:UnspecifiedMatching MONDO:0010598 glycogen storage disease IXa1 skos:exactMatch MEDGEN:854172 semapv:UnspecifiedMatching MONDO:0010598 glycogen storage disease IXa1 skos:exactMatch OMIM:306000 glycogen storage disease ixa1 semapv:UnspecifiedMatching MONDO:0010598 glycogen storage disease IXa1 skos:exactMatch SCTID:41527003 semapv:UnspecifiedMatching MONDO:0010598 glycogen storage disease IXa1 skos:exactMatch UMLS:C3694531 semapv:UnspecifiedMatching MONDO:0010598 glycogen storage disease IXa1 skos:exactMatch mesh:C564421 semapv:UnspecifiedMatching MONDO:0010598 glycogen storage disease IXa1 skos:exactMatch mesh:D006015 semapv:UnspecifiedMatching MONDO:0010599 granulomas, congenital cerebral skos:exactMatch MEDGEN:336683 semapv:UnspecifiedMatching MONDO:0010599 granulomas, congenital cerebral skos:exactMatch OMIM:306300 granulomas, congenital cerebral semapv:UnspecifiedMatching MONDO:0010599 granulomas, congenital cerebral skos:exactMatch UMLS:C1844406 semapv:UnspecifiedMatching MONDO:0010599 granulomas, congenital cerebral skos:exactMatch mesh:C537294 semapv:UnspecifiedMatching MONDO:0010600 granulomatous disease, chronic, X-linked skos:exactMatch DOID:0070195 X-linked chronic granulomatous disease semapv:UnspecifiedMatching MONDO:0010600 granulomatous disease, chronic, X-linked skos:exactMatch MEDGEN:336165 semapv:UnspecifiedMatching MONDO:0010600 granulomatous disease, chronic, X-linked skos:exactMatch OMIM:306400 granulomatous disease, chronic, X-linked semapv:UnspecifiedMatching MONDO:0010600 granulomatous disease, chronic, X-linked skos:exactMatch UMLS:C1844376 semapv:UnspecifiedMatching MONDO:0010600 granulomatous disease, chronic, X-linked skos:exactMatch mesh:C564210 semapv:UnspecifiedMatching MONDO:0010601 obsolete gynecomastia, familial skos:exactMatch OMIM:306500 semapv:UnspecifiedMatching MONDO:0010601 obsolete gynecomastia, familial skos:exactMatch mesh:C564416 semapv:UnspecifiedMatching MONDO:0010602 hemophilia A skos:exactMatch DOID:12134 factor VIII deficiency semapv:UnspecifiedMatching MONDO:0010602 hemophilia A skos:exactMatch ICD10CM:D66 Hereditary factor VIII deficiency semapv:UnspecifiedMatching MONDO:0010602 hemophilia A skos:exactMatch MEDGEN:5501 semapv:UnspecifiedMatching MONDO:0010602 hemophilia A skos:exactMatch NCIT:C27146 Hemophilia A semapv:UnspecifiedMatching MONDO:0010602 hemophilia A skos:exactMatch OMIM:134500 factor 8 deficiency semapv:UnspecifiedMatching MONDO:0010602 hemophilia A skos:exactMatch OMIM:306700 hemophilia a semapv:UnspecifiedMatching MONDO:0010602 hemophilia A skos:exactMatch Orphanet:98878 Hemophilia A semapv:UnspecifiedMatching MONDO:0010602 hemophilia A skos:exactMatch SCTID:234440005 semapv:UnspecifiedMatching MONDO:0010602 hemophilia A skos:exactMatch UMLS:C0019069 semapv:UnspecifiedMatching MONDO:0010602 hemophilia A skos:exactMatch icd11.foundation:337607970 Haemophilia A semapv:UnspecifiedMatching MONDO:0010602 hemophilia A skos:exactMatch mesh:D006467 semapv:UnspecifiedMatching MONDO:0010603 hemophilia A with vascular abnormality skos:exactMatch MEDGEN:336105 semapv:UnspecifiedMatching MONDO:0010603 hemophilia A with vascular abnormality skos:exactMatch OMIM:306800 hemophilia a with vascular abnormality semapv:UnspecifiedMatching MONDO:0010603 hemophilia A with vascular abnormality skos:exactMatch UMLS:C1844137 semapv:UnspecifiedMatching MONDO:0010603 hemophilia A with vascular abnormality skos:exactMatch mesh:C564415 semapv:UnspecifiedMatching MONDO:0010604 hemophilia B skos:exactMatch DOID:12259 hemophilia B semapv:UnspecifiedMatching MONDO:0010604 hemophilia B skos:exactMatch ICD10CM:D67 Hereditary factor IX deficiency semapv:UnspecifiedMatching MONDO:0010604 hemophilia B skos:exactMatch MEDGEN:945 semapv:UnspecifiedMatching MONDO:0010604 hemophilia B skos:exactMatch NCIT:C26721 Hemophilia B semapv:UnspecifiedMatching MONDO:0010604 hemophilia B skos:exactMatch OMIM:306900 hemophilia B semapv:UnspecifiedMatching MONDO:0010604 hemophilia B skos:exactMatch Orphanet:98879 Hemophilia B semapv:UnspecifiedMatching MONDO:0010604 hemophilia B skos:exactMatch SCTID:41788008 semapv:UnspecifiedMatching MONDO:0010604 hemophilia B skos:exactMatch UMLS:C0008533 semapv:UnspecifiedMatching MONDO:0010604 hemophilia B skos:exactMatch icd11.foundation:1901375668 Haemophilia B semapv:UnspecifiedMatching MONDO:0010604 hemophilia B skos:exactMatch mesh:D002836 semapv:UnspecifiedMatching MONDO:0010605 hemopoietic proliferation skos:exactMatch MEDGEN:336101 semapv:UnspecifiedMatching MONDO:0010605 hemopoietic proliferation skos:exactMatch OMIM:306930 hemopoietic proliferation semapv:UnspecifiedMatching MONDO:0010605 hemopoietic proliferation skos:exactMatch UMLS:C1844026 semapv:UnspecifiedMatching MONDO:0010606 hernia, anterior diaphragmatic skos:exactMatch MEDGEN:334881 semapv:UnspecifiedMatching MONDO:0010606 hernia, anterior diaphragmatic skos:exactMatch OMIM:306950 diaphragmatic hernia 5, X-linked semapv:UnspecifiedMatching MONDO:0010606 hernia, anterior diaphragmatic skos:exactMatch UMLS:C1844025 semapv:UnspecifiedMatching MONDO:0010606 hernia, anterior diaphragmatic skos:exactMatch mesh:C564413 semapv:UnspecifiedMatching MONDO:0010607 heterotaxy, visceral, 1, X-linked skos:exactMatch DOID:0051016 visceral heterotaxy 1 semapv:UnspecifiedMatching MONDO:0010607 heterotaxy, visceral, 1, X-linked skos:exactMatch MEDGEN:336609 semapv:UnspecifiedMatching MONDO:0010607 heterotaxy, visceral, 1, X-linked skos:exactMatch OMIM:306955 heterotaxy, visceral, 1, X-linked semapv:UnspecifiedMatching MONDO:0010607 heterotaxy, visceral, 1, X-linked skos:exactMatch UMLS:C1844020 semapv:UnspecifiedMatching MONDO:0010607 heterotaxy, visceral, 1, X-linked skos:exactMatch mesh:C538116 semapv:UnspecifiedMatching MONDO:0010608 Hhhh syndrome skos:exactMatch MEDGEN:336099 semapv:UnspecifiedMatching MONDO:0010608 Hhhh syndrome skos:exactMatch OMIM:306960 hhhh syndrome semapv:UnspecifiedMatching MONDO:0010608 Hhhh syndrome skos:exactMatch UMLS:C1844019 semapv:UnspecifiedMatching MONDO:0010608 Hhhh syndrome skos:exactMatch mesh:C564411 semapv:UnspecifiedMatching MONDO:0010610 holoprosencephaly-hypokinesia-congenital contractures syndrome skos:exactMatch MEDGEN:336097 semapv:UnspecifiedMatching MONDO:0010610 holoprosencephaly-hypokinesia-congenital contractures syndrome skos:exactMatch OMIM:306990 microhydranencephaly, X-linked semapv:UnspecifiedMatching MONDO:0010610 holoprosencephaly-hypokinesia-congenital contractures syndrome skos:exactMatch Orphanet:2570 Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome semapv:UnspecifiedMatching MONDO:0010610 holoprosencephaly-hypokinesia-congenital contractures syndrome skos:exactMatch SCTID:716169009 semapv:UnspecifiedMatching MONDO:0010610 holoprosencephaly-hypokinesia-congenital contractures syndrome skos:exactMatch UMLS:C1844016 semapv:UnspecifiedMatching MONDO:0010610 holoprosencephaly-hypokinesia-congenital contractures syndrome skos:exactMatch mesh:C564409 semapv:UnspecifiedMatching MONDO:0010611 X-linked hydrocephalus with stenosis of the aqueduct of Sylvius skos:exactMatch MEDGEN:75552 semapv:UnspecifiedMatching MONDO:0010611 X-linked hydrocephalus with stenosis of the aqueduct of Sylvius skos:exactMatch OMIM:307000 hydrocephalus, congenital, X-linked semapv:UnspecifiedMatching MONDO:0010611 X-linked hydrocephalus with stenosis of the aqueduct of Sylvius skos:exactMatch Orphanet:2182 Hydrocephalus with stenosis of the aqueduct of Sylvius semapv:UnspecifiedMatching MONDO:0010611 X-linked hydrocephalus with stenosis of the aqueduct of Sylvius skos:exactMatch SCTID:71779008 semapv:UnspecifiedMatching MONDO:0010611 X-linked hydrocephalus with stenosis of the aqueduct of Sylvius skos:exactMatch UMLS:C0265216 semapv:UnspecifiedMatching MONDO:0010611 X-linked hydrocephalus with stenosis of the aqueduct of Sylvius skos:exactMatch icd11.foundation:1284135636 Hydrocephalus with stenosis of the aqueduct of Sylvius semapv:UnspecifiedMatching MONDO:0010611 X-linked hydrocephalus with stenosis of the aqueduct of Sylvius skos:exactMatch mesh:C536078 semapv:UnspecifiedMatching MONDO:0010612 hydrocephaly-cerebellar agenesis syndrome skos:exactMatch MEDGEN:375335 semapv:UnspecifiedMatching MONDO:0010612 hydrocephaly-cerebellar agenesis syndrome skos:exactMatch OMIM:307010 hydrocephalus with cerebellar agenesis semapv:UnspecifiedMatching MONDO:0010612 hydrocephaly-cerebellar agenesis syndrome skos:exactMatch Orphanet:1397 Hydrocephaly-cerebellar agenesis syndrome semapv:UnspecifiedMatching MONDO:0010612 hydrocephaly-cerebellar agenesis syndrome skos:exactMatch UMLS:C1844005 semapv:UnspecifiedMatching MONDO:0010612 hydrocephaly-cerebellar agenesis syndrome skos:exactMatch mesh:C564407 semapv:UnspecifiedMatching MONDO:0010613 inborn glycerol kinase deficiency skos:exactMatch DOID:0060363 glycerol kinase deficiency semapv:UnspecifiedMatching MONDO:0010613 inborn glycerol kinase deficiency skos:exactMatch MEDGEN:82803 semapv:UnspecifiedMatching MONDO:0010613 inborn glycerol kinase deficiency skos:exactMatch OMIM:307030 glycerol kinase deficiency semapv:UnspecifiedMatching MONDO:0010613 inborn glycerol kinase deficiency skos:exactMatch Orphanet:308993 Glycerol kinase deficiency semapv:UnspecifiedMatching MONDO:0010613 inborn glycerol kinase deficiency skos:exactMatch SCTID:124322002 semapv:UnspecifiedMatching MONDO:0010613 inborn glycerol kinase deficiency skos:exactMatch UMLS:C0268418 semapv:UnspecifiedMatching MONDO:0010614 X-linked congenital generalized hypertrichosis skos:exactMatch MEDGEN:1856186 semapv:UnspecifiedMatching MONDO:0010614 X-linked congenital generalized hypertrichosis skos:exactMatch OMIM:307150 hypertrichosis, congenital generalized, 2 semapv:UnspecifiedMatching MONDO:0010614 X-linked congenital generalized hypertrichosis skos:exactMatch Orphanet:79495 X-linked congenital generalized hypertrichosis semapv:UnspecifiedMatching MONDO:0010614 X-linked congenital generalized hypertrichosis skos:exactMatch UMLS:C5887323 semapv:UnspecifiedMatching MONDO:0010614 X-linked congenital generalized hypertrichosis skos:exactMatch mesh:C538388 semapv:UnspecifiedMatching MONDO:0010615 isolated growth hormone deficiency type III skos:exactMatch DOID:0060875 isolated growth hormone deficiency type III semapv:UnspecifiedMatching MONDO:0010615 isolated growth hormone deficiency type III skos:exactMatch MEDGEN:141630 semapv:UnspecifiedMatching MONDO:0010615 isolated growth hormone deficiency type III skos:exactMatch OMIM:307200 isolated growth hormone deficiency, type iii, with agammaglobulinemia semapv:UnspecifiedMatching MONDO:0010615 isolated growth hormone deficiency type III skos:exactMatch Orphanet:231692 Isolated growth hormone deficiency type III semapv:UnspecifiedMatching MONDO:0010615 isolated growth hormone deficiency type III skos:exactMatch SCTID:234533006 semapv:UnspecifiedMatching MONDO:0010615 isolated growth hormone deficiency type III skos:exactMatch UMLS:C0472813 semapv:UnspecifiedMatching MONDO:0010615 isolated growth hormone deficiency type III skos:exactMatch mesh:C537149 semapv:UnspecifiedMatching MONDO:0010617 male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome skos:exactMatch MEDGEN:334557 semapv:UnspecifiedMatching MONDO:0010617 male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome skos:exactMatch OMIM:307500 hypogonadism, male, with impaired intellectual development and skeletal anomalies semapv:UnspecifiedMatching MONDO:0010617 male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome skos:exactMatch Orphanet:2234 Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome semapv:UnspecifiedMatching MONDO:0010617 male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome skos:exactMatch SCTID:722459008 semapv:UnspecifiedMatching MONDO:0010617 male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome skos:exactMatch UMLS:C1843994 semapv:UnspecifiedMatching MONDO:0010617 male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome skos:exactMatch mesh:C564406 semapv:UnspecifiedMatching MONDO:0010618 familial isolated hypoparathyroidism due to agenesis of parathyroid gland skos:exactMatch DOID:0111388 X-linked hypoparathyroidism semapv:UnspecifiedMatching MONDO:0010618 familial isolated hypoparathyroidism due to agenesis of parathyroid gland skos:exactMatch MEDGEN:87437 semapv:UnspecifiedMatching MONDO:0010618 familial isolated hypoparathyroidism due to agenesis of parathyroid gland skos:exactMatch NCIT:C131079 X-Linked Hypoparathyroidism semapv:UnspecifiedMatching MONDO:0010618 familial isolated hypoparathyroidism due to agenesis of parathyroid gland skos:exactMatch OMIM:307700 hypoparathyroidism, X-linked semapv:UnspecifiedMatching MONDO:0010618 familial isolated hypoparathyroidism due to agenesis of parathyroid gland skos:exactMatch Orphanet:2239 Familial isolated hypoparathyroidism due to agenesis of parathyroid gland semapv:UnspecifiedMatching MONDO:0010618 familial isolated hypoparathyroidism due to agenesis of parathyroid gland skos:exactMatch UMLS:C0342344 semapv:UnspecifiedMatching MONDO:0010618 familial isolated hypoparathyroidism due to agenesis of parathyroid gland skos:exactMatch icd11.foundation:1282942432 Familial isolated hypoparathyroidism due to agenesis of parathyroid gland semapv:UnspecifiedMatching MONDO:0010618 familial isolated hypoparathyroidism due to agenesis of parathyroid gland skos:exactMatch mesh:C563238 semapv:UnspecifiedMatching MONDO:0010619 X-linked dominant hypophosphatemic rickets skos:exactMatch DOID:0050445 X-linked hypophosphatemic rickets semapv:UnspecifiedMatching MONDO:0010619 X-linked dominant hypophosphatemic rickets skos:exactMatch MEDGEN:196551 semapv:UnspecifiedMatching MONDO:0010619 X-linked dominant hypophosphatemic rickets skos:exactMatch NCIT:C85234 X-Linked Dominant Hypophosphatemic Rickets semapv:UnspecifiedMatching MONDO:0010619 X-linked dominant hypophosphatemic rickets skos:exactMatch OMIM:307800 hypophosphatemic rickets, X-linked dominant semapv:UnspecifiedMatching MONDO:0010619 X-linked dominant hypophosphatemic rickets skos:exactMatch Orphanet:89936 X-linked hypophosphatemia semapv:UnspecifiedMatching MONDO:0010619 X-linked dominant hypophosphatemic rickets skos:exactMatch SCTID:82236004 semapv:UnspecifiedMatching MONDO:0010619 X-linked dominant hypophosphatemic rickets skos:exactMatch UMLS:C0733682 semapv:UnspecifiedMatching MONDO:0010620 hypouricemia, familial renal, due to tubular hypersecretion skos:exactMatch MEDGEN:334869 semapv:UnspecifiedMatching MONDO:0010620 hypouricemia, familial renal, due to tubular hypersecretion skos:exactMatch OMIM:307830 hypouricemia, familial renal, due to tubular hypersecretion semapv:UnspecifiedMatching MONDO:0010620 hypouricemia, familial renal, due to tubular hypersecretion skos:exactMatch UMLS:C1843972 semapv:UnspecifiedMatching MONDO:0010620 hypouricemia, familial renal, due to tubular hypersecretion skos:exactMatch mesh:C564405 semapv:UnspecifiedMatching MONDO:0010621 CHILD syndrome skos:exactMatch DOID:0111822 CHILD syndrome semapv:UnspecifiedMatching MONDO:0010621 CHILD syndrome skos:exactMatch MEDGEN:82697 semapv:UnspecifiedMatching MONDO:0010621 CHILD syndrome skos:exactMatch OMIM:308050 congenital hemidysplasia with ichthyosiform erythroderma and limb defects semapv:UnspecifiedMatching MONDO:0010621 CHILD syndrome skos:exactMatch Orphanet:139 CHILD syndrome semapv:UnspecifiedMatching MONDO:0010621 CHILD syndrome skos:exactMatch SCTID:17608003 semapv:UnspecifiedMatching MONDO:0010621 CHILD syndrome skos:exactMatch UMLS:C0265267 semapv:UnspecifiedMatching MONDO:0010621 CHILD syndrome skos:exactMatch mesh:C562515 semapv:UnspecifiedMatching MONDO:0010622 recessive X-linked ichthyosis skos:exactMatch DOID:1700 X-linked ichthyosis semapv:UnspecifiedMatching MONDO:0010622 recessive X-linked ichthyosis skos:exactMatch ICD10CM:Q80.1 X-linked ichthyosis semapv:UnspecifiedMatching MONDO:0010622 recessive X-linked ichthyosis skos:exactMatch MEDGEN:86937 semapv:UnspecifiedMatching MONDO:0010622 recessive X-linked ichthyosis skos:exactMatch NCIT:C84779 X-Linked Ichthyosis semapv:UnspecifiedMatching MONDO:0010622 recessive X-linked ichthyosis skos:exactMatch OMIM:308100 ichthyosis, X-linked semapv:UnspecifiedMatching MONDO:0010622 recessive X-linked ichthyosis skos:exactMatch Orphanet:461 Recessive X-linked ichthyosis semapv:UnspecifiedMatching MONDO:0010622 recessive X-linked ichthyosis skos:exactMatch SCTID:3944006 semapv:UnspecifiedMatching MONDO:0010622 recessive X-linked ichthyosis skos:exactMatch UMLS:C0079588 semapv:UnspecifiedMatching MONDO:0010622 recessive X-linked ichthyosis skos:exactMatch icd11.foundation:1466487054 X-linked ichthyosis semapv:UnspecifiedMatching MONDO:0010623 ichthyosis and male hypogonadism skos:exactMatch MEDGEN:333456 semapv:UnspecifiedMatching MONDO:0010623 ichthyosis and male hypogonadism skos:exactMatch OMIM:308200 ichthyosis and male hypogonadism semapv:UnspecifiedMatching MONDO:0010623 ichthyosis and male hypogonadism skos:exactMatch SCTID:2355008 semapv:UnspecifiedMatching MONDO:0010623 ichthyosis and male hypogonadism skos:exactMatch UMLS:C1839989 semapv:UnspecifiedMatching MONDO:0010623 ichthyosis and male hypogonadism skos:exactMatch mesh:C537365 semapv:UnspecifiedMatching MONDO:0010625 immunodeficiency, X-linked, with deficiency of 115,000 Dalton surface glycoprotein skos:exactMatch MEDGEN:326624 semapv:UnspecifiedMatching MONDO:0010625 immunodeficiency, X-linked, with deficiency of 115,000 Dalton surface glycoprotein skos:exactMatch OMIM:308220 immunodeficiency, x-linked, with deficiency of 115,000 dalton surface glycoprotein semapv:UnspecifiedMatching MONDO:0010625 immunodeficiency, X-linked, with deficiency of 115,000 Dalton surface glycoprotein skos:exactMatch UMLS:C1839982 semapv:UnspecifiedMatching MONDO:0010625 immunodeficiency, X-linked, with deficiency of 115,000 Dalton surface glycoprotein skos:exactMatch mesh:C564120 semapv:UnspecifiedMatching MONDO:0010626 hyper-IgM syndrome type 1 skos:exactMatch DOID:0060022 CD40 ligand deficiency semapv:UnspecifiedMatching MONDO:0010626 hyper-IgM syndrome type 1 skos:exactMatch DOID:6620 X-linked hyper IgM syndrome semapv:UnspecifiedMatching MONDO:0010626 hyper-IgM syndrome type 1 skos:exactMatch MEDGEN:96019 semapv:UnspecifiedMatching MONDO:0010626 hyper-IgM syndrome type 1 skos:exactMatch NCIT:C61244 CD40 Ligand Deficiency semapv:UnspecifiedMatching MONDO:0010626 hyper-IgM syndrome type 1 skos:exactMatch OMIM:308230 immunodeficiency with hyper-igm, type 1 semapv:UnspecifiedMatching MONDO:0010626 hyper-IgM syndrome type 1 skos:exactMatch Orphanet:101088 X-linked hyper-IgM syndrome semapv:UnspecifiedMatching MONDO:0010626 hyper-IgM syndrome type 1 skos:exactMatch SCTID:403835002 semapv:UnspecifiedMatching MONDO:0010626 hyper-IgM syndrome type 1 skos:exactMatch UMLS:C0398689 semapv:UnspecifiedMatching MONDO:0010627 X-linked lymphoproliferative syndrome skos:exactMatch DOID:0060705 X-linked lymphoproliferative syndrome 1 semapv:UnspecifiedMatching MONDO:0010627 X-linked lymphoproliferative syndrome skos:exactMatch MEDGEN:107498 semapv:UnspecifiedMatching MONDO:0010627 X-linked lymphoproliferative syndrome skos:exactMatch NCIT:C61246 X-Linked Lymphoproliferative Syndrome semapv:UnspecifiedMatching MONDO:0010627 X-linked lymphoproliferative syndrome skos:exactMatch Orphanet:2442 X-linked lymphoproliferative disease semapv:UnspecifiedMatching MONDO:0010627 X-linked lymphoproliferative syndrome skos:exactMatch SCTID:77121009 semapv:UnspecifiedMatching MONDO:0010627 X-linked lymphoproliferative syndrome skos:exactMatch UMLS:C0549463 semapv:UnspecifiedMatching MONDO:0010628 immunoglobulin M, level of skos:exactMatch MEDGEN:327005 semapv:UnspecifiedMatching MONDO:0010628 immunoglobulin M, level of skos:exactMatch OMIM:308250 immunoglobulin m, level of semapv:UnspecifiedMatching MONDO:0010628 immunoglobulin M, level of skos:exactMatch UMLS:C1839966 semapv:UnspecifiedMatching MONDO:0010629 impacted teeth, multiple skos:exactMatch MEDGEN:327004 semapv:UnspecifiedMatching MONDO:0010629 impacted teeth, multiple skos:exactMatch OMIM:308280 impacted teeth, multiple semapv:UnspecifiedMatching MONDO:0010629 impacted teeth, multiple skos:exactMatch UMLS:C1839965 semapv:UnspecifiedMatching MONDO:0010630 imprinting gene related to retinoblastoma skos:exactMatch MEDGEN:333451 semapv:UnspecifiedMatching MONDO:0010630 imprinting gene related to retinoblastoma skos:exactMatch OMIM:308290 imprinting gene related to retinoblastoma semapv:UnspecifiedMatching MONDO:0010630 imprinting gene related to retinoblastoma skos:exactMatch UMLS:C1839964 semapv:UnspecifiedMatching MONDO:0010631 incontinentia pigmenti skos:exactMatch DOID:12305 Bloch-Sulzberger syndrome semapv:UnspecifiedMatching MONDO:0010631 incontinentia pigmenti skos:exactMatch ICD10CM:Q82.3 Incontinentia pigmenti semapv:UnspecifiedMatching MONDO:0010631 incontinentia pigmenti skos:exactMatch MEDGEN:7049 semapv:UnspecifiedMatching MONDO:0010631 incontinentia pigmenti skos:exactMatch NCIT:C84787 Incontinentia Pigmenti semapv:UnspecifiedMatching MONDO:0010631 incontinentia pigmenti skos:exactMatch OMIM:308300 incontinentia pigmenti semapv:UnspecifiedMatching MONDO:0010631 incontinentia pigmenti skos:exactMatch Orphanet:464 Incontinentia pigmenti semapv:UnspecifiedMatching MONDO:0010631 incontinentia pigmenti skos:exactMatch SCTID:367520004 semapv:UnspecifiedMatching MONDO:0010631 incontinentia pigmenti skos:exactMatch UMLS:C0021171 semapv:UnspecifiedMatching MONDO:0010631 incontinentia pigmenti skos:exactMatch icd11.foundation:1542530268 Incontinentia pigmenti semapv:UnspecifiedMatching MONDO:0010631 incontinentia pigmenti skos:exactMatch mesh:D007184 semapv:UnspecifiedMatching MONDO:0010632 developmental and epileptic encephalopathy, 1 skos:exactMatch DOID:0080468 developmental and epileptic encephalopathy 1 semapv:UnspecifiedMatching MONDO:0010632 developmental and epileptic encephalopathy, 1 skos:exactMatch MEDGEN:483052 semapv:UnspecifiedMatching MONDO:0010632 developmental and epileptic encephalopathy, 1 skos:exactMatch OMIM:308350 developmental and epileptic encephalopathy 1 semapv:UnspecifiedMatching MONDO:0010632 developmental and epileptic encephalopathy, 1 skos:exactMatch UMLS:C3463992 semapv:UnspecifiedMatching MONDO:0010633 iris hypoplasia with glaucoma skos:exactMatch MEDGEN:326993 semapv:UnspecifiedMatching MONDO:0010633 iris hypoplasia with glaucoma skos:exactMatch OMIM:308500 iris hypoplasia with glaucoma semapv:UnspecifiedMatching MONDO:0010633 iris hypoplasia with glaucoma skos:exactMatch UMLS:C1839928 semapv:UnspecifiedMatching MONDO:0010633 iris hypoplasia with glaucoma skos:exactMatch mesh:C535538 semapv:UnspecifiedMatching MONDO:0010634 jaundice, familial obstructive, of infancy skos:exactMatch MEDGEN:326992 semapv:UnspecifiedMatching MONDO:0010634 jaundice, familial obstructive, of infancy skos:exactMatch OMIM:308600 jaundice, familial obstructive, of infancy semapv:UnspecifiedMatching MONDO:0010634 jaundice, familial obstructive, of infancy skos:exactMatch UMLS:C1839927 semapv:UnspecifiedMatching MONDO:0010634 jaundice, familial obstructive, of infancy skos:exactMatch mesh:C564118 semapv:UnspecifiedMatching MONDO:0010635 hypogonadotropic hypogonadism 1 with or without anosmia skos:exactMatch DOID:0090094 hypogonadotropic hypogonadism 1 with or without anosmia semapv:UnspecifiedMatching MONDO:0010635 hypogonadotropic hypogonadism 1 with or without anosmia skos:exactMatch MEDGEN:295872 semapv:UnspecifiedMatching MONDO:0010635 hypogonadotropic hypogonadism 1 with or without anosmia skos:exactMatch NCIT:C75480 Kallmann Syndrome 1 semapv:UnspecifiedMatching MONDO:0010635 hypogonadotropic hypogonadism 1 with or without anosmia skos:exactMatch OMIM:308700 hypogonadotropic hypogonadism 1 with or without anosmia semapv:UnspecifiedMatching MONDO:0010635 hypogonadotropic hypogonadism 1 with or without anosmia skos:exactMatch UMLS:C1563719 semapv:UnspecifiedMatching MONDO:0010636 Kallmann syndrome with spastic paraplegia skos:exactMatch MEDGEN:333437 semapv:UnspecifiedMatching MONDO:0010636 Kallmann syndrome with spastic paraplegia skos:exactMatch OMIM:308750 kallmann syndrome with spastic paraplegia semapv:UnspecifiedMatching MONDO:0010636 Kallmann syndrome with spastic paraplegia skos:exactMatch UMLS:C1839911 semapv:UnspecifiedMatching MONDO:0010636 Kallmann syndrome with spastic paraplegia skos:exactMatch mesh:C536873 semapv:UnspecifiedMatching MONDO:0010637 keratosis follicularis spinulosa decalvans, X-linked skos:exactMatch DOID:0080754 X-linked keratosis follicularis spinulosa decalvans semapv:UnspecifiedMatching MONDO:0010637 keratosis follicularis spinulosa decalvans, X-linked skos:exactMatch MEDGEN:854384 semapv:UnspecifiedMatching MONDO:0010637 keratosis follicularis spinulosa decalvans, X-linked skos:exactMatch OMIM:308800 keratosis follicularis spinulosa decalvans, X-linked semapv:UnspecifiedMatching MONDO:0010637 keratosis follicularis spinulosa decalvans, X-linked skos:exactMatch UMLS:C3887525 semapv:UnspecifiedMatching MONDO:0010637 keratosis follicularis spinulosa decalvans, X-linked skos:exactMatch mesh:C536159 semapv:UnspecifiedMatching MONDO:0010638 keratosis follicularis-dwarfism-cerebral atrophy syndrome skos:exactMatch MEDGEN:374340 semapv:UnspecifiedMatching MONDO:0010638 keratosis follicularis-dwarfism-cerebral atrophy syndrome skos:exactMatch OMIM:308830 keratosis follicularis, dwarfism, and cerebral atrophy semapv:UnspecifiedMatching MONDO:0010638 keratosis follicularis-dwarfism-cerebral atrophy syndrome skos:exactMatch Orphanet:2339 Keratosis follicularis-dwarfism-cerebral atrophy syndrome semapv:UnspecifiedMatching MONDO:0010638 keratosis follicularis-dwarfism-cerebral atrophy syndrome skos:exactMatch UMLS:C1839910 semapv:UnspecifiedMatching MONDO:0010638 keratosis follicularis-dwarfism-cerebral atrophy syndrome skos:exactMatch mesh:C536158 semapv:UnspecifiedMatching MONDO:0010639 laryngeal abductor paralysis-intellectual disability syndrome skos:exactMatch MEDGEN:1855824 semapv:UnspecifiedMatching MONDO:0010639 laryngeal abductor paralysis-intellectual disability syndrome skos:exactMatch OMIM:308850 laryngeal abductor paralysis, X-linked semapv:UnspecifiedMatching MONDO:0010639 laryngeal abductor paralysis-intellectual disability syndrome skos:exactMatch Orphanet:2375 Laryngeal abductor paralysis-intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0010639 laryngeal abductor paralysis-intellectual disability syndrome skos:exactMatch SCTID:724178000 semapv:UnspecifiedMatching MONDO:0010639 laryngeal abductor paralysis-intellectual disability syndrome skos:exactMatch UMLS:C5886766 semapv:UnspecifiedMatching MONDO:0010640 Leber optic atrophy, susceptibility to skos:exactMatch MEDGEN:374333 semapv:UnspecifiedMatching MONDO:0010640 Leber optic atrophy, susceptibility to skos:exactMatch OMIM:308905 leber hereditary optic neuropathy, modifier of semapv:UnspecifiedMatching MONDO:0010640 Leber optic atrophy, susceptibility to skos:exactMatch UMLS:C1839891 semapv:UnspecifiedMatching MONDO:0010641 X-linked diffuse leiomyomatosis-Alport syndrome skos:exactMatch MEDGEN:333429 semapv:UnspecifiedMatching MONDO:0010641 X-linked diffuse leiomyomatosis-Alport syndrome skos:exactMatch OMIM:308940 leiomyomatosis, diffuse, with alport syndrome semapv:UnspecifiedMatching MONDO:0010641 X-linked diffuse leiomyomatosis-Alport syndrome skos:exactMatch Orphanet:1018 X-linked Alport syndrome-diffuse leiomyomatosis semapv:UnspecifiedMatching MONDO:0010641 X-linked diffuse leiomyomatosis-Alport syndrome skos:exactMatch UMLS:C1839884 semapv:UnspecifiedMatching MONDO:0010641 X-linked diffuse leiomyomatosis-Alport syndrome skos:exactMatch mesh:C537113 semapv:UnspecifiedMatching MONDO:0010642 Lesch-Nyhan phenotype with normal HGPRT skos:exactMatch MEDGEN:374332 semapv:UnspecifiedMatching MONDO:0010642 Lesch-Nyhan phenotype with normal HGPRT skos:exactMatch OMIM:308950 lesch-nyhan phenotype with normal hgprt semapv:UnspecifiedMatching MONDO:0010642 Lesch-Nyhan phenotype with normal HGPRT skos:exactMatch UMLS:C1839883 semapv:UnspecifiedMatching MONDO:0010643 acute leukemia skos:exactMatch DOID:12603 acute leukemia semapv:UnspecifiedMatching MONDO:0010643 acute leukemia skos:exactMatch EFO:1000068 semapv:UnspecifiedMatching MONDO:0010643 acute leukemia skos:exactMatch MEDGEN:43225 semapv:UnspecifiedMatching MONDO:0010643 acute leukemia skos:exactMatch NCIT:C9300 Acute Leukemia semapv:UnspecifiedMatching MONDO:0010643 acute leukemia skos:exactMatch SCTID:91855006 semapv:UnspecifiedMatching MONDO:0010643 acute leukemia skos:exactMatch UMLS:C0085669 semapv:UnspecifiedMatching MONDO:0010643 acute leukemia skos:exactMatch mesh:C564112 semapv:UnspecifiedMatching MONDO:0010644 proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis skos:exactMatch DOID:0111815 low molecular weight proteinuria with hypercalciuric nephrocalcinosis semapv:UnspecifiedMatching MONDO:0010644 proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis skos:exactMatch MEDGEN:333426 semapv:UnspecifiedMatching MONDO:0010644 proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis skos:exactMatch OMIM:308990 proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis semapv:UnspecifiedMatching MONDO:0010644 proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis skos:exactMatch UMLS:C1839874 semapv:UnspecifiedMatching MONDO:0010644 proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis skos:exactMatch mesh:C545036 semapv:UnspecifiedMatching MONDO:0010645 oculocerebrorenal syndrome skos:exactMatch DOID:1056 oculocerebrorenal syndrome semapv:UnspecifiedMatching MONDO:0010645 oculocerebrorenal syndrome skos:exactMatch MEDGEN:18145 semapv:UnspecifiedMatching MONDO:0010645 oculocerebrorenal syndrome skos:exactMatch NCIT:C84940 Oculocerebrorenal Syndrome semapv:UnspecifiedMatching MONDO:0010645 oculocerebrorenal syndrome skos:exactMatch OMIM:309000 lowe oculocerebrorenal syndrome semapv:UnspecifiedMatching MONDO:0010645 oculocerebrorenal syndrome skos:exactMatch Orphanet:534 Oculocerebrorenal syndrome of Lowe semapv:UnspecifiedMatching MONDO:0010645 oculocerebrorenal syndrome skos:exactMatch SCTID:79385002 semapv:UnspecifiedMatching MONDO:0010645 oculocerebrorenal syndrome skos:exactMatch UMLS:C0028860 semapv:UnspecifiedMatching MONDO:0010645 oculocerebrorenal syndrome skos:exactMatch icd11.foundation:1392767390 Oculocerebrorenal syndrome semapv:UnspecifiedMatching MONDO:0010645 oculocerebrorenal syndrome skos:exactMatch mesh:D009800 semapv:UnspecifiedMatching MONDO:0010646 macular dystrophy, X-linked skos:exactMatch MEDGEN:374323 semapv:UnspecifiedMatching MONDO:0010646 macular dystrophy, X-linked skos:exactMatch OMIM:309100 macular dystrophy, X-linked semapv:UnspecifiedMatching MONDO:0010646 macular dystrophy, X-linked skos:exactMatch UMLS:C1839842 semapv:UnspecifiedMatching MONDO:0010646 macular dystrophy, X-linked skos:exactMatch mesh:C564110 semapv:UnspecifiedMatching MONDO:0010647 spermatogenic failure, X-linked, 2 skos:exactMatch DOID:0070185 X-linked spermatogenic failure 2 semapv:UnspecifiedMatching MONDO:0010647 spermatogenic failure, X-linked, 2 skos:exactMatch MEDGEN:374322 semapv:UnspecifiedMatching MONDO:0010647 spermatogenic failure, X-linked, 2 skos:exactMatch OMIM:309120 spermatogenic failure, x-linked, 2 semapv:UnspecifiedMatching MONDO:0010647 spermatogenic failure, X-linked, 2 skos:exactMatch UMLS:C1839841 semapv:UnspecifiedMatching MONDO:0010648 major affective disorder 2 skos:exactMatch MEDGEN:326975 semapv:UnspecifiedMatching MONDO:0010648 major affective disorder 2 skos:exactMatch OMIM:309200 major affective disorder 2 semapv:UnspecifiedMatching MONDO:0010648 major affective disorder 2 skos:exactMatch UMLS:C1839839 semapv:UnspecifiedMatching MONDO:0010648 major affective disorder 2 skos:exactMatch mesh:C564108 semapv:UnspecifiedMatching MONDO:0010649 isolated congenital megalocornea skos:exactMatch MEDGEN:1385311 semapv:UnspecifiedMatching MONDO:0010649 isolated congenital megalocornea skos:exactMatch OMIM:309300 megalocornea semapv:UnspecifiedMatching MONDO:0010649 isolated congenital megalocornea skos:exactMatch Orphanet:91489 Isolated congenital megalocornea semapv:UnspecifiedMatching MONDO:0010649 isolated congenital megalocornea skos:exactMatch SCTID:734026006 semapv:UnspecifiedMatching MONDO:0010649 isolated congenital megalocornea skos:exactMatch UMLS:C4518341 semapv:UnspecifiedMatching MONDO:0010650 Melnick-Needles syndrome skos:exactMatch DOID:0111788 Melnick-Needles syndrome semapv:UnspecifiedMatching MONDO:0010650 Melnick-Needles syndrome skos:exactMatch MEDGEN:6292 semapv:UnspecifiedMatching MONDO:0010650 Melnick-Needles syndrome skos:exactMatch OMIM:309350 melnick-needles syndrome semapv:UnspecifiedMatching MONDO:0010650 Melnick-Needles syndrome skos:exactMatch Orphanet:2484 Melnick-Needles syndrome semapv:UnspecifiedMatching MONDO:0010650 Melnick-Needles syndrome skos:exactMatch SCTID:13449007 semapv:UnspecifiedMatching MONDO:0010650 Melnick-Needles syndrome skos:exactMatch UMLS:C0025237 semapv:UnspecifiedMatching MONDO:0010651 Menkes disease skos:exactMatch DOID:1838 Menkes disease semapv:UnspecifiedMatching MONDO:0010651 Menkes disease skos:exactMatch MEDGEN:44030 semapv:UnspecifiedMatching MONDO:0010651 Menkes disease skos:exactMatch NCIT:C75486 Menkes Disease semapv:UnspecifiedMatching MONDO:0010651 Menkes disease skos:exactMatch OMIM:309400 menkes disease semapv:UnspecifiedMatching MONDO:0010651 Menkes disease skos:exactMatch Orphanet:565 Menkes disease semapv:UnspecifiedMatching MONDO:0010651 Menkes disease skos:exactMatch SCTID:59178007 semapv:UnspecifiedMatching MONDO:0010651 Menkes disease skos:exactMatch UMLS:C0022716 semapv:UnspecifiedMatching MONDO:0010651 Menkes disease skos:exactMatch icd11.foundation:986728180 Menkes disease semapv:UnspecifiedMatching MONDO:0010651 Menkes disease skos:exactMatch mesh:D007706 semapv:UnspecifiedMatching MONDO:0010652 X-linked intellectual disability-seizures-psoriasis syndrome skos:exactMatch MEDGEN:501947 semapv:UnspecifiedMatching MONDO:0010652 X-linked intellectual disability-seizures-psoriasis syndrome skos:exactMatch OMIM:309480 impaired intellectual development and psoriasis semapv:UnspecifiedMatching MONDO:0010652 X-linked intellectual disability-seizures-psoriasis syndrome skos:exactMatch Orphanet:3052 X-linked intellectual disability-seizures-psoriasis syndrome semapv:UnspecifiedMatching MONDO:0010652 X-linked intellectual disability-seizures-psoriasis syndrome skos:exactMatch SCTID:719810000 semapv:UnspecifiedMatching MONDO:0010652 X-linked intellectual disability-seizures-psoriasis syndrome skos:exactMatch UMLS:C3501539 semapv:UnspecifiedMatching MONDO:0010652 X-linked intellectual disability-seizures-psoriasis syndrome skos:exactMatch mesh:C536978 semapv:UnspecifiedMatching MONDO:0010653 Renpenning syndrome skos:exactMatch DOID:0060179 Renpenning syndrome semapv:UnspecifiedMatching MONDO:0010653 Renpenning syndrome skos:exactMatch MEDGEN:208670 semapv:UnspecifiedMatching MONDO:0010653 Renpenning syndrome skos:exactMatch NCIT:C165533 Renpenning Syndrome semapv:UnspecifiedMatching MONDO:0010653 Renpenning syndrome skos:exactMatch OMIM:309500 renpenning syndrome 1 semapv:UnspecifiedMatching MONDO:0010653 Renpenning syndrome skos:exactMatch Orphanet:3242 Renpenning syndrome semapv:UnspecifiedMatching MONDO:0010653 Renpenning syndrome skos:exactMatch SCTID:699669001 semapv:UnspecifiedMatching MONDO:0010653 Renpenning syndrome skos:exactMatch UMLS:C0796135 semapv:UnspecifiedMatching MONDO:0010653 Renpenning syndrome skos:exactMatch icd11.foundation:1415315699 Renpenning syndrome semapv:UnspecifiedMatching MONDO:0010653 Renpenning syndrome skos:exactMatch mesh:C537761 semapv:UnspecifiedMatching MONDO:0010654 Partington syndrome skos:exactMatch DOID:14744 Partington syndrome semapv:UnspecifiedMatching MONDO:0010654 Partington syndrome skos:exactMatch MEDGEN:163237 semapv:UnspecifiedMatching MONDO:0010654 Partington syndrome skos:exactMatch OMIM:309510 partington syndrome semapv:UnspecifiedMatching MONDO:0010654 Partington syndrome skos:exactMatch Orphanet:94083 Partington syndrome semapv:UnspecifiedMatching MONDO:0010654 Partington syndrome skos:exactMatch SCTID:702412005 semapv:UnspecifiedMatching MONDO:0010654 Partington syndrome skos:exactMatch UMLS:C0796250 semapv:UnspecifiedMatching MONDO:0010655 X-linked intellectual disability with marfanoid habitus skos:exactMatch DOID:0080985 syndromic X-linked intellectual disorder Lujan-Fryns-type semapv:UnspecifiedMatching MONDO:0010655 X-linked intellectual disability with marfanoid habitus skos:exactMatch MEDGEN:167096 semapv:UnspecifiedMatching MONDO:0010655 X-linked intellectual disability with marfanoid habitus skos:exactMatch OMIM:309520 intellectual developmental disorder, x-linked, syndromic, lujan-fryns type semapv:UnspecifiedMatching MONDO:0010655 X-linked intellectual disability with marfanoid habitus skos:exactMatch Orphanet:776 Lujan-Fryns syndrome semapv:UnspecifiedMatching MONDO:0010655 X-linked intellectual disability with marfanoid habitus skos:exactMatch SCTID:422437002 semapv:UnspecifiedMatching MONDO:0010655 X-linked intellectual disability with marfanoid habitus skos:exactMatch UMLS:C0796022 semapv:UnspecifiedMatching MONDO:0010655 X-linked intellectual disability with marfanoid habitus skos:exactMatch mesh:C537724 semapv:UnspecifiedMatching MONDO:0010656 intellectual disability, X-linked 1 skos:exactMatch DOID:0112038 non-syndromic X-linked intellectual disability 1 semapv:UnspecifiedMatching MONDO:0010656 intellectual disability, X-linked 1 skos:exactMatch MEDGEN:444070 semapv:UnspecifiedMatching MONDO:0010656 intellectual disability, X-linked 1 skos:exactMatch NCIT:C133729 Mental Retardation, X-linked 1 semapv:UnspecifiedMatching MONDO:0010656 intellectual disability, X-linked 1 skos:exactMatch OMIM:309530 intellectual developmental disorder, X-linked 1 semapv:UnspecifiedMatching MONDO:0010656 intellectual disability, X-linked 1 skos:exactMatch Orphanet:397933 Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome semapv:UnspecifiedMatching MONDO:0010656 intellectual disability, X-linked 1 skos:exactMatch UMLS:C2931498 semapv:UnspecifiedMatching MONDO:0010656 intellectual disability, X-linked 1 skos:exactMatch mesh:C564489 semapv:UnspecifiedMatching MONDO:0010656 intellectual disability, X-linked 1 skos:exactMatch mesh:C567906 semapv:UnspecifiedMatching MONDO:0010657 methylmalonic acidemia with homocystinuria, type cblX skos:exactMatch DOID:0111814 methylmalonic acidemia and homocysteinemia cblX type semapv:UnspecifiedMatching MONDO:0010657 methylmalonic acidemia with homocystinuria, type cblX skos:exactMatch MEDGEN:167111 semapv:UnspecifiedMatching MONDO:0010657 methylmalonic acidemia with homocystinuria, type cblX skos:exactMatch OMIM:309541 methylmalonic aciduria and homocystinuria, cblx type semapv:UnspecifiedMatching MONDO:0010657 methylmalonic acidemia with homocystinuria, type cblX skos:exactMatch Orphanet:369962 Methylmalonic acidemia with homocystinuria, type cblX semapv:UnspecifiedMatching MONDO:0010657 methylmalonic acidemia with homocystinuria, type cblX skos:exactMatch UMLS:C0796208 semapv:UnspecifiedMatching MONDO:0010657 methylmalonic acidemia with homocystinuria, type cblX skos:exactMatch mesh:C563136 semapv:UnspecifiedMatching MONDO:0010658 syndromic X-linked intellectual disability 12 skos:exactMatch DOID:0060804 syndromic X-linked intellectual disability 12 semapv:UnspecifiedMatching MONDO:0010658 syndromic X-linked intellectual disability 12 skos:exactMatch MEDGEN:333405 semapv:UnspecifiedMatching MONDO:0010658 syndromic X-linked intellectual disability 12 skos:exactMatch OMIM:309545 intellectual developmental disorder, x-linked, syndromic 12 semapv:UnspecifiedMatching MONDO:0010658 syndromic X-linked intellectual disability 12 skos:exactMatch Orphanet:85290 X-linked intellectual disability, Wilson type semapv:UnspecifiedMatching MONDO:0010658 syndromic X-linked intellectual disability 12 skos:exactMatch SCTID:719009006 semapv:UnspecifiedMatching MONDO:0010658 syndromic X-linked intellectual disability 12 skos:exactMatch UMLS:C1839792 semapv:UnspecifiedMatching MONDO:0010658 syndromic X-linked intellectual disability 12 skos:exactMatch mesh:C564106 semapv:UnspecifiedMatching MONDO:0010659 FRAXE intellectual disability skos:exactMatch DOID:0080984 X-linked intellectual developmental disorder 109 semapv:UnspecifiedMatching MONDO:0010659 FRAXE intellectual disability skos:exactMatch MEDGEN:155512 semapv:UnspecifiedMatching MONDO:0010659 FRAXE intellectual disability skos:exactMatch OMIM:309548 intellectual developmental disorder, X-linked 109 semapv:UnspecifiedMatching MONDO:0010659 FRAXE intellectual disability skos:exactMatch Orphanet:100973 FRAXE intellectual disability semapv:UnspecifiedMatching MONDO:0010659 FRAXE intellectual disability skos:exactMatch SCTID:716709002 semapv:UnspecifiedMatching MONDO:0010659 FRAXE intellectual disability skos:exactMatch UMLS:C0751157 semapv:UnspecifiedMatching MONDO:0010660 intellectual disability, X-linked 9 skos:exactMatch DOID:0112034 non-syndromic X-linked intellectual disability 9 semapv:UnspecifiedMatching MONDO:0010660 intellectual disability, X-linked 9 skos:exactMatch MEDGEN:167112 semapv:UnspecifiedMatching MONDO:0010660 intellectual disability, X-linked 9 skos:exactMatch OMIM:309549 intellectual developmental disorder, X-linked 9 semapv:UnspecifiedMatching MONDO:0010660 intellectual disability, X-linked 9 skos:exactMatch UMLS:C0796215 semapv:UnspecifiedMatching MONDO:0010660 intellectual disability, X-linked 9 skos:exactMatch mesh:C563137 semapv:UnspecifiedMatching MONDO:0010661 severe X-linked intellectual disability, Gustavson type skos:exactMatch DOID:0081123 X-linked mental retardation Gustavson type semapv:UnspecifiedMatching MONDO:0010661 severe X-linked intellectual disability, Gustavson type skos:exactMatch MEDGEN:167088 semapv:UnspecifiedMatching MONDO:0010661 severe X-linked intellectual disability, Gustavson type skos:exactMatch OMIM:309555 intellectual developmental disorder, x-linked, syndromic, gustavson type semapv:UnspecifiedMatching MONDO:0010661 severe X-linked intellectual disability, Gustavson type skos:exactMatch Orphanet:3078 Severe X-linked intellectual disability, Gustavson type semapv:UnspecifiedMatching MONDO:0010661 severe X-linked intellectual disability, Gustavson type skos:exactMatch SCTID:722213009 semapv:UnspecifiedMatching MONDO:0010661 severe X-linked intellectual disability, Gustavson type skos:exactMatch UMLS:C0795965 semapv:UnspecifiedMatching MONDO:0010661 severe X-linked intellectual disability, Gustavson type skos:exactMatch mesh:C536759 semapv:UnspecifiedMatching MONDO:0010662 paraplegia-intellectual disability-hyperkeratosis syndrome skos:exactMatch MEDGEN:411554 semapv:UnspecifiedMatching MONDO:0010662 paraplegia-intellectual disability-hyperkeratosis syndrome skos:exactMatch OMIM:309560 impaired intellectual development with spastic paraplegia and palmoplantar hyperkeratosis semapv:UnspecifiedMatching MONDO:0010662 paraplegia-intellectual disability-hyperkeratosis syndrome skos:exactMatch Orphanet:2824 Paraplegia-intellectual disability-hyperkeratosis syndrome semapv:UnspecifiedMatching MONDO:0010662 paraplegia-intellectual disability-hyperkeratosis syndrome skos:exactMatch UMLS:C2745996 semapv:UnspecifiedMatching MONDO:0010662 paraplegia-intellectual disability-hyperkeratosis syndrome skos:exactMatch mesh:C537058 semapv:UnspecifiedMatching MONDO:0010663 intellectual disability-hypotonic facies syndrome, X-linked, 1 skos:exactMatch DOID:0080982 X-linked intellectual disability-hypotonic facies syndrome-1 semapv:UnspecifiedMatching MONDO:0010663 intellectual disability-hypotonic facies syndrome, X-linked, 1 skos:exactMatch MEDGEN:1676827 semapv:UnspecifiedMatching MONDO:0010663 intellectual disability-hypotonic facies syndrome, X-linked, 1 skos:exactMatch OMIM:309580 intellectual disability-hypotonic facies syndrome, x-linked, 1 semapv:UnspecifiedMatching MONDO:0010663 intellectual disability-hypotonic facies syndrome, X-linked, 1 skos:exactMatch SCTID:717763008 semapv:UnspecifiedMatching MONDO:0010663 intellectual disability-hypotonic facies syndrome, X-linked, 1 skos:exactMatch SCTID:719212004 semapv:UnspecifiedMatching MONDO:0010663 intellectual disability-hypotonic facies syndrome, X-linked, 1 skos:exactMatch UMLS:C4759781 semapv:UnspecifiedMatching MONDO:0010663 intellectual disability-hypotonic facies syndrome, X-linked, 1 skos:exactMatch mesh:C537445 semapv:UnspecifiedMatching MONDO:0010664 syndromic X-linked intellectual disability Snyder type skos:exactMatch DOID:0060802 syndromic X-linked intellectual disability Snyder type semapv:UnspecifiedMatching MONDO:0010664 syndromic X-linked intellectual disability Snyder type skos:exactMatch MEDGEN:162918 semapv:UnspecifiedMatching MONDO:0010664 syndromic X-linked intellectual disability Snyder type skos:exactMatch OMIM:309583 intellectual developmental disorder, x-linked, syndromic, snyder-robinson type semapv:UnspecifiedMatching MONDO:0010664 syndromic X-linked intellectual disability Snyder type skos:exactMatch Orphanet:3063 X-linked intellectual disability, Snyder type semapv:UnspecifiedMatching MONDO:0010664 syndromic X-linked intellectual disability Snyder type skos:exactMatch SCTID:702416008 semapv:UnspecifiedMatching MONDO:0010664 syndromic X-linked intellectual disability Snyder type skos:exactMatch UMLS:C0796160 semapv:UnspecifiedMatching MONDO:0010664 syndromic X-linked intellectual disability Snyder type skos:exactMatch mesh:C536678 semapv:UnspecifiedMatching MONDO:0010665 Wilson-Turner syndrome skos:exactMatch DOID:0060814 Wilson-Turner syndrome semapv:UnspecifiedMatching MONDO:0010665 Wilson-Turner syndrome skos:exactMatch MEDGEN:333393 semapv:UnspecifiedMatching MONDO:0010665 Wilson-Turner syndrome skos:exactMatch OMIM:309585 intellectual developmental disorder, x-linked, syndromic, wilson-turner type semapv:UnspecifiedMatching MONDO:0010665 Wilson-Turner syndrome skos:exactMatch Orphanet:3459 Wilson-Turner syndrome semapv:UnspecifiedMatching MONDO:0010665 Wilson-Turner syndrome skos:exactMatch SCTID:719834005 semapv:UnspecifiedMatching MONDO:0010665 Wilson-Turner syndrome skos:exactMatch UMLS:C1839736 semapv:UnspecifiedMatching MONDO:0010665 Wilson-Turner syndrome skos:exactMatch icd11.foundation:2015561482 Wilson-Turner syndrome semapv:UnspecifiedMatching MONDO:0010665 Wilson-Turner syndrome skos:exactMatch mesh:C536708 semapv:UnspecifiedMatching MONDO:0010666 obsolete Miles-Carpenter syndrome skos:exactMatch OMIM:309605 semapv:UnspecifiedMatching MONDO:0010667 Prieto syndrome skos:exactMatch DOID:0060805 Prieto syndrome semapv:UnspecifiedMatching MONDO:0010667 Prieto syndrome skos:exactMatch MEDGEN:374294 semapv:UnspecifiedMatching MONDO:0010667 Prieto syndrome skos:exactMatch OMIM:309610 prieto syndrome semapv:UnspecifiedMatching MONDO:0010667 Prieto syndrome skos:exactMatch Orphanet:2958 X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome semapv:UnspecifiedMatching MONDO:0010667 Prieto syndrome skos:exactMatch SCTID:719140001 semapv:UnspecifiedMatching MONDO:0010667 Prieto syndrome skos:exactMatch UMLS:C1839730 semapv:UnspecifiedMatching MONDO:0010667 Prieto syndrome skos:exactMatch mesh:C535274 semapv:UnspecifiedMatching MONDO:0010668 skeletal dysplasia-intellectual disability syndrome skos:exactMatch MEDGEN:326949 semapv:UnspecifiedMatching MONDO:0010668 skeletal dysplasia-intellectual disability syndrome skos:exactMatch OMIM:309620 christian syndrome semapv:UnspecifiedMatching MONDO:0010668 skeletal dysplasia-intellectual disability syndrome skos:exactMatch Orphanet:1436 X-linked skeletal dysplasia-intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0010668 skeletal dysplasia-intellectual disability syndrome skos:exactMatch SCTID:722478008 semapv:UnspecifiedMatching MONDO:0010668 skeletal dysplasia-intellectual disability syndrome skos:exactMatch UMLS:C1839729 semapv:UnspecifiedMatching MONDO:0010668 skeletal dysplasia-intellectual disability syndrome skos:exactMatch mesh:C564101 semapv:UnspecifiedMatching MONDO:0010669 syndactyly type 8 skos:exactMatch DOID:0111813 syndactyly type 8 semapv:UnspecifiedMatching MONDO:0010669 syndactyly type 8 skos:exactMatch MEDGEN:333392 semapv:UnspecifiedMatching MONDO:0010669 syndactyly type 8 skos:exactMatch OMIM:309630 metacarpal 4-5 fusion semapv:UnspecifiedMatching MONDO:0010669 syndactyly type 8 skos:exactMatch Orphanet:2498 Syndactyly type 8 semapv:UnspecifiedMatching MONDO:0010669 syndactyly type 8 skos:exactMatch SCTID:715442006 semapv:UnspecifiedMatching MONDO:0010669 syndactyly type 8 skos:exactMatch UMLS:C1839728 semapv:UnspecifiedMatching MONDO:0010669 syndactyly type 8 skos:exactMatch icd11.foundation:577712860 Syndactyly type 8 semapv:UnspecifiedMatching MONDO:0010669 syndactyly type 8 skos:exactMatch mesh:C564100 semapv:UnspecifiedMatching MONDO:0010670 X-linked intellectual disability-spastic quadriparesis syndrome skos:exactMatch MEDGEN:374293 semapv:UnspecifiedMatching MONDO:0010670 X-linked intellectual disability-spastic quadriparesis syndrome skos:exactMatch OMIM:309640 impaired intellectual development with spastic paraplegia semapv:UnspecifiedMatching MONDO:0010670 X-linked intellectual disability-spastic quadriparesis syndrome skos:exactMatch UMLS:C1839727 semapv:UnspecifiedMatching MONDO:0010670 X-linked intellectual disability-spastic quadriparesis syndrome skos:exactMatch mesh:C564099 semapv:UnspecifiedMatching MONDO:0010671 microphthalmia, syndromic 1 skos:exactMatch DOID:0111799 syndromic microphthalmia 1 semapv:UnspecifiedMatching MONDO:0010671 microphthalmia, syndromic 1 skos:exactMatch MEDGEN:162898 semapv:UnspecifiedMatching MONDO:0010671 microphthalmia, syndromic 1 skos:exactMatch OMIM:309800 microphthalmia, syndromic 1 semapv:UnspecifiedMatching MONDO:0010671 microphthalmia, syndromic 1 skos:exactMatch Orphanet:85275 Microphthalmia-ankyloblepharon-intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0010671 microphthalmia, syndromic 1 skos:exactMatch SCTID:438504004 semapv:UnspecifiedMatching MONDO:0010671 microphthalmia, syndromic 1 skos:exactMatch SCTID:717222003 semapv:UnspecifiedMatching MONDO:0010671 microphthalmia, syndromic 1 skos:exactMatch UMLS:C0796016 semapv:UnspecifiedMatching MONDO:0010671 microphthalmia, syndromic 1 skos:exactMatch mesh:C537464 semapv:UnspecifiedMatching MONDO:0010672 linear skin defects with multiple congenital anomalies skos:exactMatch DOID:0111875 MLS syndrome semapv:UnspecifiedMatching MONDO:0010672 linear skin defects with multiple congenital anomalies skos:exactMatch OMIMPS:309801 Linear skin defects with multiple congenital anomalies semapv:UnspecifiedMatching MONDO:0010672 linear skin defects with multiple congenital anomalies skos:exactMatch Orphanet:2556 Microphthalmia with linear skin defects syndrome semapv:UnspecifiedMatching MONDO:0010672 linear skin defects with multiple congenital anomalies skos:exactMatch SCTID:721879006 semapv:UnspecifiedMatching MONDO:0010672 linear skin defects with multiple congenital anomalies skos:exactMatch mesh:C537466 semapv:UnspecifiedMatching MONDO:0010673 modifier, X-linked, for Neurofunctional defects skos:exactMatch MEDGEN:326945 semapv:UnspecifiedMatching MONDO:0010673 modifier, X-linked, for Neurofunctional defects skos:exactMatch OMIM:309840 modifier, x-linked, for neurofunctional defects semapv:UnspecifiedMatching MONDO:0010673 modifier, X-linked, for Neurofunctional defects skos:exactMatch UMLS:C1839708 semapv:UnspecifiedMatching MONDO:0010673 modifier, X-linked, for Neurofunctional defects skos:exactMatch mesh:C564098 semapv:UnspecifiedMatching MONDO:0010674 mucopolysaccharidosis type 2 skos:exactMatch DOID:12799 mucopolysaccharidosis II semapv:UnspecifiedMatching MONDO:0010674 mucopolysaccharidosis type 2 skos:exactMatch ICD10CM:E76.1 Mucopolysaccharidosis, type II semapv:UnspecifiedMatching MONDO:0010674 mucopolysaccharidosis type 2 skos:exactMatch MEDGEN:7734 semapv:UnspecifiedMatching MONDO:0010674 mucopolysaccharidosis type 2 skos:exactMatch NCIT:C61260 Hunter Syndrome semapv:UnspecifiedMatching MONDO:0010674 mucopolysaccharidosis type 2 skos:exactMatch OMIM:309900 mucopolysaccharidosis, type 2 semapv:UnspecifiedMatching MONDO:0010674 mucopolysaccharidosis type 2 skos:exactMatch Orphanet:580 Mucopolysaccharidosis type 2 semapv:UnspecifiedMatching MONDO:0010674 mucopolysaccharidosis type 2 skos:exactMatch Orphanet:79388 Mucopolysaccharidosis with skin involvement semapv:UnspecifiedMatching MONDO:0010674 mucopolysaccharidosis type 2 skos:exactMatch SCTID:70737009 semapv:UnspecifiedMatching MONDO:0010674 mucopolysaccharidosis type 2 skos:exactMatch UMLS:C0026705 semapv:UnspecifiedMatching MONDO:0010674 mucopolysaccharidosis type 2 skos:exactMatch icd11.foundation:1056274204 Mucopolysaccharidosis type 2 semapv:UnspecifiedMatching MONDO:0010674 mucopolysaccharidosis type 2 skos:exactMatch mesh:D016532 semapv:UnspecifiedMatching MONDO:0010675 muscular dystrophy, cardiac type skos:exactMatch MEDGEN:254845 semapv:UnspecifiedMatching MONDO:0010675 muscular dystrophy, cardiac type skos:exactMatch OMIM:309930 muscular dystrophy, cardiac type semapv:UnspecifiedMatching MONDO:0010675 muscular dystrophy, cardiac type skos:exactMatch UMLS:C1442927 semapv:UnspecifiedMatching MONDO:0010675 muscular dystrophy, cardiac type skos:exactMatch mesh:C563247 semapv:UnspecifiedMatching MONDO:0010676 muscular dystrophy, Hemizygous lethal type skos:exactMatch MEDGEN:326552 semapv:UnspecifiedMatching MONDO:0010676 muscular dystrophy, Hemizygous lethal type skos:exactMatch OMIM:309950 muscular dystrophy, hemizygous lethal type semapv:UnspecifiedMatching MONDO:0010676 muscular dystrophy, Hemizygous lethal type skos:exactMatch UMLS:C1839671 semapv:UnspecifiedMatching MONDO:0010676 muscular dystrophy, Hemizygous lethal type skos:exactMatch mesh:C564097 semapv:UnspecifiedMatching MONDO:0010677 muscular dystrophy, Mabry type skos:exactMatch MEDGEN:326551 semapv:UnspecifiedMatching MONDO:0010677 muscular dystrophy, Mabry type skos:exactMatch OMIM:310000 muscular dystrophy, mabry type semapv:UnspecifiedMatching MONDO:0010677 muscular dystrophy, Mabry type skos:exactMatch UMLS:C1839670 semapv:UnspecifiedMatching MONDO:0010677 muscular dystrophy, Mabry type skos:exactMatch mesh:C564096 semapv:UnspecifiedMatching MONDO:0010678 muscular dystrophy, progressive Pectorodorsal skos:exactMatch MEDGEN:326550 semapv:UnspecifiedMatching MONDO:0010678 muscular dystrophy, progressive Pectorodorsal skos:exactMatch OMIM:310095 muscular dystrophy, progressive pectorodorsal semapv:UnspecifiedMatching MONDO:0010678 muscular dystrophy, progressive Pectorodorsal skos:exactMatch UMLS:C1839669 semapv:UnspecifiedMatching MONDO:0010678 muscular dystrophy, progressive Pectorodorsal skos:exactMatch mesh:C564095 semapv:UnspecifiedMatching MONDO:0010679 Duchenne muscular dystrophy skos:exactMatch DOID:11723 Duchenne muscular dystrophy semapv:UnspecifiedMatching MONDO:0010679 Duchenne muscular dystrophy skos:exactMatch MEDGEN:3925 semapv:UnspecifiedMatching MONDO:0010679 Duchenne muscular dystrophy skos:exactMatch NCIT:C75482 Duchenne Muscular Dystrophy semapv:UnspecifiedMatching MONDO:0010679 Duchenne muscular dystrophy skos:exactMatch OMIM:310200 muscular dystrophy, duchenne type semapv:UnspecifiedMatching MONDO:0010679 Duchenne muscular dystrophy skos:exactMatch Orphanet:98896 Duchenne muscular dystrophy semapv:UnspecifiedMatching MONDO:0010679 Duchenne muscular dystrophy skos:exactMatch SCTID:76670001 semapv:UnspecifiedMatching MONDO:0010679 Duchenne muscular dystrophy skos:exactMatch UMLS:C0013264 semapv:UnspecifiedMatching MONDO:0010679 Duchenne muscular dystrophy skos:exactMatch icd11.foundation:1479561744 Duchenne muscular dystrophy semapv:UnspecifiedMatching MONDO:0010679 Duchenne muscular dystrophy skos:exactMatch mesh:D020388 semapv:UnspecifiedMatching MONDO:0010680 X-linked Emery-Dreifuss muscular dystrophy skos:exactMatch MEDGEN:148284 semapv:UnspecifiedMatching MONDO:0010680 X-linked Emery-Dreifuss muscular dystrophy skos:exactMatch Orphanet:98863 X-linked Emery-Dreifuss muscular dystrophy semapv:UnspecifiedMatching MONDO:0010680 X-linked Emery-Dreifuss muscular dystrophy skos:exactMatch UMLS:C0751337 semapv:UnspecifiedMatching MONDO:0010680 X-linked Emery-Dreifuss muscular dystrophy skos:exactMatch icd11.foundation:516501338 Emery-Dreifuss muscular dystrophy, X-linked semapv:UnspecifiedMatching MONDO:0010680 X-linked Emery-Dreifuss muscular dystrophy skos:exactMatch mesh:D000083143 semapv:UnspecifiedMatching MONDO:0010681 myelolymphatic insufficiency skos:exactMatch MEDGEN:333371 semapv:UnspecifiedMatching MONDO:0010681 myelolymphatic insufficiency skos:exactMatch OMIM:310350 myelolymphatic insufficiency semapv:UnspecifiedMatching MONDO:0010681 myelolymphatic insufficiency skos:exactMatch UMLS:C1839650 semapv:UnspecifiedMatching MONDO:0010682 obsolete myoclonic epilepsy, progressive, X-linked skos:exactMatch OMIM:310370 myoclonic epilepsy, progressive semapv:UnspecifiedMatching MONDO:0010683 X-linked myotubular myopathy skos:exactMatch DOID:0111225 centronuclear myopathy X-linked semapv:UnspecifiedMatching MONDO:0010683 X-linked myotubular myopathy skos:exactMatch ICD10CM:G71.220 X-linked myotubular myopathy semapv:UnspecifiedMatching MONDO:0010683 X-linked myotubular myopathy skos:exactMatch MEDGEN:98374 semapv:UnspecifiedMatching MONDO:0010683 X-linked myotubular myopathy skos:exactMatch NCIT:C118781 X-Linked Centronuclear Myopathy semapv:UnspecifiedMatching MONDO:0010683 X-linked myotubular myopathy skos:exactMatch OMIM:310400 myopathy, centronuclear, X-linked semapv:UnspecifiedMatching MONDO:0010683 X-linked myotubular myopathy skos:exactMatch Orphanet:596 X-linked centronuclear myopathy semapv:UnspecifiedMatching MONDO:0010683 X-linked myotubular myopathy skos:exactMatch SCTID:46804001 semapv:UnspecifiedMatching MONDO:0010683 X-linked myotubular myopathy skos:exactMatch UMLS:C0410203 semapv:UnspecifiedMatching MONDO:0010684 X-linked myopathy with excessive autophagy skos:exactMatch DOID:0050760 X-linked myopathy with excessive autophagy semapv:UnspecifiedMatching MONDO:0010684 X-linked myopathy with excessive autophagy skos:exactMatch MEDGEN:374264 semapv:UnspecifiedMatching MONDO:0010684 X-linked myopathy with excessive autophagy skos:exactMatch OMIM:310440 myopathy, x-linked, with excessive autophagy semapv:UnspecifiedMatching MONDO:0010684 X-linked myopathy with excessive autophagy skos:exactMatch Orphanet:25980 X-linked myopathy with excessive autophagy semapv:UnspecifiedMatching MONDO:0010684 X-linked myopathy with excessive autophagy skos:exactMatch SCTID:719815005 semapv:UnspecifiedMatching MONDO:0010684 X-linked myopathy with excessive autophagy skos:exactMatch UMLS:C1839615 semapv:UnspecifiedMatching MONDO:0010684 X-linked myopathy with excessive autophagy skos:exactMatch mesh:C536522 semapv:UnspecifiedMatching MONDO:0010685 myopia 1, X-linked skos:exactMatch MEDGEN:326540 semapv:UnspecifiedMatching MONDO:0010685 myopia 1, X-linked skos:exactMatch OMIM:310460 myopia 1, X-linked semapv:UnspecifiedMatching MONDO:0010685 myopia 1, X-linked skos:exactMatch UMLS:C1839612 semapv:UnspecifiedMatching MONDO:0010685 myopia 1, X-linked skos:exactMatch mesh:C564091 semapv:UnspecifiedMatching MONDO:0010686 N syndrome skos:exactMatch DOID:0050769 N syndrome semapv:UnspecifiedMatching MONDO:0010686 N syndrome skos:exactMatch MEDGEN:424834 semapv:UnspecifiedMatching MONDO:0010686 N syndrome skos:exactMatch OMIM:310465 n syndrome semapv:UnspecifiedMatching MONDO:0010686 N syndrome skos:exactMatch Orphanet:2608 N syndrome semapv:UnspecifiedMatching MONDO:0010686 N syndrome skos:exactMatch SCTID:723410002 semapv:UnspecifiedMatching MONDO:0010686 N syndrome skos:exactMatch UMLS:C2936859 semapv:UnspecifiedMatching MONDO:0010686 N syndrome skos:exactMatch icd11.foundation:2040480507 N syndrome semapv:UnspecifiedMatching MONDO:0010686 N syndrome skos:exactMatch mesh:C536108 semapv:UnspecifiedMatching MONDO:0010687 nephrolithiasis, X-linked recessive, with renal failure skos:exactMatch DOID:0111798 X-linked nephrolithiasis type I semapv:UnspecifiedMatching MONDO:0010687 nephrolithiasis, X-linked recessive, with renal failure skos:exactMatch MEDGEN:96047 semapv:UnspecifiedMatching MONDO:0010687 nephrolithiasis, X-linked recessive, with renal failure skos:exactMatch OMIM:310468 nephrolithiasis, X-linked recessive, with renal failure semapv:UnspecifiedMatching MONDO:0010687 nephrolithiasis, X-linked recessive, with renal failure skos:exactMatch SCTID:236713006 semapv:UnspecifiedMatching MONDO:0010687 nephrolithiasis, X-linked recessive, with renal failure skos:exactMatch UMLS:C0403720 semapv:UnspecifiedMatching MONDO:0010687 nephrolithiasis, X-linked recessive, with renal failure skos:exactMatch mesh:C562901 semapv:UnspecifiedMatching MONDO:0010688 hereditary sensory neuropathy X-linked skos:exactMatch DOID:0070159 hereditary sensory neuropathy X-linked semapv:UnspecifiedMatching MONDO:0010688 hereditary sensory neuropathy X-linked skos:exactMatch MEDGEN:333359 semapv:UnspecifiedMatching MONDO:0010688 hereditary sensory neuropathy X-linked skos:exactMatch OMIM:310470 neuropathy, hereditary sensory, X-linked semapv:UnspecifiedMatching MONDO:0010688 hereditary sensory neuropathy X-linked skos:exactMatch UMLS:C1839602 semapv:UnspecifiedMatching MONDO:0010688 hereditary sensory neuropathy X-linked skos:exactMatch mesh:C564090 semapv:UnspecifiedMatching MONDO:0010689 Charcot-Marie-Tooth disease X-linked recessive 4 skos:exactMatch DOID:0110212 Charcot-Marie-Tooth disease X-linked recessive 4 semapv:UnspecifiedMatching MONDO:0010689 Charcot-Marie-Tooth disease X-linked recessive 4 skos:exactMatch MEDGEN:162891 semapv:UnspecifiedMatching MONDO:0010689 Charcot-Marie-Tooth disease X-linked recessive 4 skos:exactMatch OMIM:310490 charcot-marie-tooth disease, X-linked recessive, 4, with or without cerebellar ataxia semapv:UnspecifiedMatching MONDO:0010689 Charcot-Marie-Tooth disease X-linked recessive 4 skos:exactMatch Orphanet:101078 X-linked Charcot-Marie-Tooth disease type 4 semapv:UnspecifiedMatching MONDO:0010689 Charcot-Marie-Tooth disease X-linked recessive 4 skos:exactMatch SCTID:763400005 semapv:UnspecifiedMatching MONDO:0010689 Charcot-Marie-Tooth disease X-linked recessive 4 skos:exactMatch UMLS:C0795910 semapv:UnspecifiedMatching MONDO:0010690 congenital stationary night blindness 1A skos:exactMatch DOID:0110870 congenital stationary night blindness 1A semapv:UnspecifiedMatching MONDO:0010690 congenital stationary night blindness 1A skos:exactMatch MEDGEN:501208 semapv:UnspecifiedMatching MONDO:0010690 congenital stationary night blindness 1A skos:exactMatch OMIM:310500 night blindness, congenital stationary, type 1a semapv:UnspecifiedMatching MONDO:0010690 congenital stationary night blindness 1A skos:exactMatch UMLS:C3495587 semapv:UnspecifiedMatching MONDO:0010691 Norrie disease skos:exactMatch DOID:0060844 Norrie disease semapv:UnspecifiedMatching MONDO:0010691 Norrie disease skos:exactMatch MEDGEN:75615 semapv:UnspecifiedMatching MONDO:0010691 Norrie disease skos:exactMatch NCIT:C118634 Norrie Syndrome semapv:UnspecifiedMatching MONDO:0010691 Norrie disease skos:exactMatch OMIM:310600 norrie disease semapv:UnspecifiedMatching MONDO:0010691 Norrie disease skos:exactMatch Orphanet:649 Norrie disease semapv:UnspecifiedMatching MONDO:0010691 Norrie disease skos:exactMatch SCTID:15228007 semapv:UnspecifiedMatching MONDO:0010691 Norrie disease skos:exactMatch UMLS:C0266526 semapv:UnspecifiedMatching MONDO:0010691 Norrie disease skos:exactMatch icd11.foundation:676214590 Norrie disease semapv:UnspecifiedMatching MONDO:0010691 Norrie disease skos:exactMatch mesh:C537849 semapv:UnspecifiedMatching MONDO:0010692 nuclear ribonucleic acid skos:exactMatch MEDGEN:374259 semapv:UnspecifiedMatching MONDO:0010692 nuclear ribonucleic acid skos:exactMatch OMIM:310650 nuclear ribonucleic acid semapv:UnspecifiedMatching MONDO:0010692 nuclear ribonucleic acid skos:exactMatch UMLS:C1839581 semapv:UnspecifiedMatching MONDO:0010693 nystagmus 1, congenital, X-linked skos:exactMatch DOID:0111790 congenital nystagmus 1 semapv:UnspecifiedMatching MONDO:0010693 nystagmus 1, congenital, X-linked skos:exactMatch MEDGEN:333352 semapv:UnspecifiedMatching MONDO:0010693 nystagmus 1, congenital, X-linked skos:exactMatch OMIM:310700 nystagmus 1, congenital, X-linked semapv:UnspecifiedMatching MONDO:0010693 nystagmus 1, congenital, X-linked skos:exactMatch UMLS:C1839580 semapv:UnspecifiedMatching MONDO:0010693 nystagmus 1, congenital, X-linked skos:exactMatch mesh:C537853 semapv:UnspecifiedMatching MONDO:0010694 nystagmus, myoclonic skos:exactMatch MEDGEN:326918 semapv:UnspecifiedMatching MONDO:0010694 nystagmus, myoclonic skos:exactMatch OMIM:310800 nystagmus, myoclonic semapv:UnspecifiedMatching MONDO:0010694 nystagmus, myoclonic skos:exactMatch UMLS:C1839579 semapv:UnspecifiedMatching MONDO:0010694 nystagmus, myoclonic skos:exactMatch mesh:C564088 semapv:UnspecifiedMatching MONDO:0010695 occipital hair, white lock of skos:exactMatch MEDGEN:326917 semapv:UnspecifiedMatching MONDO:0010695 occipital hair, white lock of skos:exactMatch OMIM:310900 occipital hair, white lock of semapv:UnspecifiedMatching MONDO:0010695 occipital hair, white lock of skos:exactMatch UMLS:C1839578 semapv:UnspecifiedMatching MONDO:0010696 omphalocele, X-linked skos:exactMatch MEDGEN:477256 semapv:UnspecifiedMatching MONDO:0010696 omphalocele, X-linked skos:exactMatch OMIM:310980 omphalocele, X-linked semapv:UnspecifiedMatching MONDO:0010696 omphalocele, X-linked skos:exactMatch UMLS:C3275625 semapv:UnspecifiedMatching MONDO:0010697 ophthalmoplegia, external, and myopia skos:exactMatch MEDGEN:326916 semapv:UnspecifiedMatching MONDO:0010697 ophthalmoplegia, external, and myopia skos:exactMatch OMIM:311000 ophthalmoplegia, external, and myopia semapv:UnspecifiedMatching MONDO:0010697 ophthalmoplegia, external, and myopia skos:exactMatch UMLS:C1839577 semapv:UnspecifiedMatching MONDO:0010697 ophthalmoplegia, external, and myopia skos:exactMatch mesh:C564087 semapv:UnspecifiedMatching MONDO:0010698 optic atrophy 2 skos:exactMatch DOID:0111443 optic atrophy 2 semapv:UnspecifiedMatching MONDO:0010698 optic atrophy 2 skos:exactMatch MEDGEN:326915 semapv:UnspecifiedMatching MONDO:0010698 optic atrophy 2 skos:exactMatch OMIM:311050 optic atrophy 2 semapv:UnspecifiedMatching MONDO:0010698 optic atrophy 2 skos:exactMatch Orphanet:98890 Early-onset X-linked optic atrophy semapv:UnspecifiedMatching MONDO:0010698 optic atrophy 2 skos:exactMatch SCTID:721200000 semapv:UnspecifiedMatching MONDO:0010698 optic atrophy 2 skos:exactMatch UMLS:C1839576 semapv:UnspecifiedMatching MONDO:0010698 optic atrophy 2 skos:exactMatch mesh:C537125 semapv:UnspecifiedMatching MONDO:0010699 Charcot-Marie-Tooth disease X-linked recessive 5 skos:exactMatch DOID:0110210 Charcot-Marie-Tooth disease X-linked recessive 5 semapv:UnspecifiedMatching MONDO:0010699 Charcot-Marie-Tooth disease X-linked recessive 5 skos:exactMatch MEDGEN:374254 semapv:UnspecifiedMatching MONDO:0010699 Charcot-Marie-Tooth disease X-linked recessive 5 skos:exactMatch OMIM:311070 charcot-marie-tooth disease, X-linked recessive, 5 semapv:UnspecifiedMatching MONDO:0010699 Charcot-Marie-Tooth disease X-linked recessive 5 skos:exactMatch Orphanet:99014 X-linked Charcot-Marie-Tooth disease type 5 semapv:UnspecifiedMatching MONDO:0010699 Charcot-Marie-Tooth disease X-linked recessive 5 skos:exactMatch SCTID:763460007 semapv:UnspecifiedMatching MONDO:0010699 Charcot-Marie-Tooth disease X-linked recessive 5 skos:exactMatch UMLS:C1839566 semapv:UnspecifiedMatching MONDO:0010700 optic atrophy--spastic paraplegia syndrome skos:exactMatch MEDGEN:326914 semapv:UnspecifiedMatching MONDO:0010700 optic atrophy--spastic paraplegia syndrome skos:exactMatch OMIM:311100 optic atrophy--spastic paraplegia syndrome semapv:UnspecifiedMatching MONDO:0010700 optic atrophy--spastic paraplegia syndrome skos:exactMatch UMLS:C1839565 semapv:UnspecifiedMatching MONDO:0010700 optic atrophy--spastic paraplegia syndrome skos:exactMatch mesh:C564084 semapv:UnspecifiedMatching MONDO:0010702 orofaciodigital syndrome I skos:exactMatch DOID:0060316 orofaciodigital syndrome I semapv:UnspecifiedMatching MONDO:0010702 orofaciodigital syndrome I skos:exactMatch MEDGEN:307142 semapv:UnspecifiedMatching MONDO:0010702 orofaciodigital syndrome I skos:exactMatch NCIT:C75481 Orofaciodigital Syndrome Type 1 semapv:UnspecifiedMatching MONDO:0010702 orofaciodigital syndrome I skos:exactMatch OMIM:311200 orofaciodigital syndrome 1 semapv:UnspecifiedMatching MONDO:0010702 orofaciodigital syndrome I skos:exactMatch Orphanet:2750 Orofaciodigital syndrome type 1 semapv:UnspecifiedMatching MONDO:0010702 orofaciodigital syndrome I skos:exactMatch SCTID:763833006 semapv:UnspecifiedMatching MONDO:0010702 orofaciodigital syndrome I skos:exactMatch UMLS:C1510460 semapv:UnspecifiedMatching MONDO:0010702 orofaciodigital syndrome I skos:exactMatch mesh:C537134 semapv:UnspecifiedMatching MONDO:0010703 ornithine carbamoyltransferase deficiency skos:exactMatch DOID:9271 ornithine carbamoyltransferase deficiency semapv:UnspecifiedMatching MONDO:0010703 ornithine carbamoyltransferase deficiency skos:exactMatch EFO:0007409 semapv:UnspecifiedMatching MONDO:0010703 ornithine carbamoyltransferase deficiency skos:exactMatch MEDGEN:75692 semapv:UnspecifiedMatching MONDO:0010703 ornithine carbamoyltransferase deficiency skos:exactMatch NCIT:C84957 Ornithine Carbamoyltransferase Deficiency Disease semapv:UnspecifiedMatching MONDO:0010703 ornithine carbamoyltransferase deficiency skos:exactMatch OMIM:311250 ornithine transcarbamylase deficiency, hyperammonemia due to semapv:UnspecifiedMatching MONDO:0010703 ornithine carbamoyltransferase deficiency skos:exactMatch Orphanet:664 Ornithine transcarbamylase deficiency semapv:UnspecifiedMatching MONDO:0010703 ornithine carbamoyltransferase deficiency skos:exactMatch SCTID:80908008 semapv:UnspecifiedMatching MONDO:0010703 ornithine carbamoyltransferase deficiency skos:exactMatch UMLS:C0268542 semapv:UnspecifiedMatching MONDO:0010703 ornithine carbamoyltransferase deficiency skos:exactMatch icd11.foundation:1822444026 Ornithine carbamoyltransferase deficiency semapv:UnspecifiedMatching MONDO:0010703 ornithine carbamoyltransferase deficiency skos:exactMatch mesh:D020163 semapv:UnspecifiedMatching MONDO:0010704 otopalatodigital syndrome type 1 skos:exactMatch DOID:0111783 otopalatodigital syndrome type 1 semapv:UnspecifiedMatching MONDO:0010704 otopalatodigital syndrome type 1 skos:exactMatch MEDGEN:78542 semapv:UnspecifiedMatching MONDO:0010704 otopalatodigital syndrome type 1 skos:exactMatch NCIT:C118845 Otopalatodigital Syndrome Type 1 semapv:UnspecifiedMatching MONDO:0010704 otopalatodigital syndrome type 1 skos:exactMatch OMIM:311300 otopalatodigital syndrome, type 1 semapv:UnspecifiedMatching MONDO:0010704 otopalatodigital syndrome type 1 skos:exactMatch Orphanet:90650 Otopalatodigital syndrome type 1 semapv:UnspecifiedMatching MONDO:0010704 otopalatodigital syndrome type 1 skos:exactMatch SCTID:54036001 semapv:UnspecifiedMatching MONDO:0010704 otopalatodigital syndrome type 1 skos:exactMatch UMLS:C0265251 semapv:UnspecifiedMatching MONDO:0010704 otopalatodigital syndrome type 1 skos:exactMatch icd11.foundation:1442049882 Otopalatodigital syndrome type 1 semapv:UnspecifiedMatching MONDO:0010705 obsolete ouabain resistance skos:exactMatch OMIM:311350 ouabain resistance semapv:UnspecifiedMatching MONDO:0010706 premature ovarian failure 1 skos:exactMatch DOID:0080857 primary ovarian insufficiency 1 semapv:UnspecifiedMatching MONDO:0010706 premature ovarian failure 1 skos:exactMatch MEDGEN:1644269 semapv:UnspecifiedMatching MONDO:0010706 premature ovarian failure 1 skos:exactMatch OMIM:311360 premature ovarian failure 1 semapv:UnspecifiedMatching MONDO:0010706 premature ovarian failure 1 skos:exactMatch Orphanet:642691 Fragile X-associated primary ovarian insufficiency semapv:UnspecifiedMatching MONDO:0010706 premature ovarian failure 1 skos:exactMatch UMLS:C4552079 semapv:UnspecifiedMatching MONDO:0010707 Paine syndrome skos:exactMatch MEDGEN:234691 semapv:UnspecifiedMatching MONDO:0010707 Paine syndrome skos:exactMatch OMIM:311400 paine syndrome semapv:UnspecifiedMatching MONDO:0010707 Paine syndrome skos:exactMatch UMLS:C1412041 semapv:UnspecifiedMatching MONDO:0010707 Paine syndrome skos:exactMatch mesh:C538101 semapv:UnspecifiedMatching MONDO:0010708 Pallister-W syndrome skos:exactMatch MEDGEN:163215 semapv:UnspecifiedMatching MONDO:0010708 Pallister-W syndrome skos:exactMatch OMIM:311450 pallister w syndrome semapv:UnspecifiedMatching MONDO:0010708 Pallister-W syndrome skos:exactMatch Orphanet:2804 W syndrome semapv:UnspecifiedMatching MONDO:0010708 Pallister-W syndrome skos:exactMatch SCTID:719020006 semapv:UnspecifiedMatching MONDO:0010708 Pallister-W syndrome skos:exactMatch UMLS:C0796110 semapv:UnspecifiedMatching MONDO:0010708 Pallister-W syndrome skos:exactMatch mesh:C538106 semapv:UnspecifiedMatching MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome skos:exactMatch DOID:0111781 Waisman syndrome semapv:UnspecifiedMatching MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome skos:exactMatch MEDGEN:208674 semapv:UnspecifiedMatching MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome skos:exactMatch OMIM:311510 waisman syndrome semapv:UnspecifiedMatching MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome skos:exactMatch Orphanet:2379 Early-onset parkinsonism-intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome skos:exactMatch SCTID:716107009 semapv:UnspecifiedMatching MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome skos:exactMatch UMLS:C0796195 semapv:UnspecifiedMatching MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome skos:exactMatch icd11.foundation:937544163 Early-onset parkinsonism - intellectual deficit semapv:UnspecifiedMatching MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome skos:exactMatch mesh:C537179 semapv:UnspecifiedMatching MONDO:0010710 Pierre Robin syndrome-faciodigital anomaly syndrome skos:exactMatch MEDGEN:443969 semapv:UnspecifiedMatching MONDO:0010710 Pierre Robin syndrome-faciodigital anomaly syndrome skos:exactMatch OMIM:311895 pierre robin sequence with facial and digital anomalies semapv:UnspecifiedMatching MONDO:0010710 Pierre Robin syndrome-faciodigital anomaly syndrome skos:exactMatch Orphanet:2888 Pierre Robin syndrome-faciodigital anomaly syndrome semapv:UnspecifiedMatching MONDO:0010710 Pierre Robin syndrome-faciodigital anomaly syndrome skos:exactMatch SCTID:723461007 semapv:UnspecifiedMatching MONDO:0010710 Pierre Robin syndrome-faciodigital anomaly syndrome skos:exactMatch UMLS:C2931064 semapv:UnspecifiedMatching MONDO:0010710 Pierre Robin syndrome-faciodigital anomaly syndrome skos:exactMatch mesh:C535926 semapv:UnspecifiedMatching MONDO:0010711 TARP syndrome skos:exactMatch DOID:0111780 TARP syndrome semapv:UnspecifiedMatching MONDO:0010711 TARP syndrome skos:exactMatch MEDGEN:333324 semapv:UnspecifiedMatching MONDO:0010711 TARP syndrome skos:exactMatch OMIM:311900 tarp syndrome semapv:UnspecifiedMatching MONDO:0010711 TARP syndrome skos:exactMatch Orphanet:2886 TARP syndrome semapv:UnspecifiedMatching MONDO:0010711 TARP syndrome skos:exactMatch SCTID:725911008 semapv:UnspecifiedMatching MONDO:0010711 TARP syndrome skos:exactMatch UMLS:C1839463 semapv:UnspecifiedMatching MONDO:0010711 TARP syndrome skos:exactMatch mesh:C536942 semapv:UnspecifiedMatching MONDO:0010712 panhypopituitarism, X-linked skos:exactMatch DOID:0111779 X-linked panhypopituitarism semapv:UnspecifiedMatching MONDO:0010712 panhypopituitarism, X-linked skos:exactMatch MEDGEN:87439 semapv:UnspecifiedMatching MONDO:0010712 panhypopituitarism, X-linked skos:exactMatch OMIM:312000 panhypopituitarism, X-linked semapv:UnspecifiedMatching MONDO:0010712 panhypopituitarism, X-linked skos:exactMatch SCTID:237683004 semapv:UnspecifiedMatching MONDO:0010712 panhypopituitarism, X-linked skos:exactMatch UMLS:C0342376 semapv:UnspecifiedMatching MONDO:0010712 panhypopituitarism, X-linked skos:exactMatch mesh:C538613 semapv:UnspecifiedMatching MONDO:0010713 properdin deficiency, X-linked skos:exactMatch DOID:0111768 X-linked properdin deficiency semapv:UnspecifiedMatching MONDO:0010713 properdin deficiency, X-linked skos:exactMatch MEDGEN:333322 semapv:UnspecifiedMatching MONDO:0010713 properdin deficiency, X-linked skos:exactMatch OMIM:312060 properdin deficiency, X-linked semapv:UnspecifiedMatching MONDO:0010713 properdin deficiency, X-linked skos:exactMatch Orphanet:2966 Properdin deficiency semapv:UnspecifiedMatching MONDO:0010713 properdin deficiency, X-linked skos:exactMatch SCTID:81166004 semapv:UnspecifiedMatching MONDO:0010713 properdin deficiency, X-linked skos:exactMatch UMLS:C1839454 semapv:UnspecifiedMatching MONDO:0010713 properdin deficiency, X-linked skos:exactMatch mesh:C537241 semapv:UnspecifiedMatching MONDO:0010714 Pelizaeus-Merzbacher spectrum disorder skos:exactMatch DOID:3210 Pelizaeus-Merzbacher disease semapv:UnspecifiedMatching MONDO:0010714 Pelizaeus-Merzbacher spectrum disorder skos:exactMatch MEDGEN:61440 semapv:UnspecifiedMatching MONDO:0010714 Pelizaeus-Merzbacher spectrum disorder skos:exactMatch NCIT:C75487 Pelizaeus-Merzbacher Disease semapv:UnspecifiedMatching MONDO:0010714 Pelizaeus-Merzbacher spectrum disorder skos:exactMatch OMIM:312080 pelizaeus-merzbacher disease semapv:UnspecifiedMatching MONDO:0010714 Pelizaeus-Merzbacher spectrum disorder skos:exactMatch Orphanet:702 Pelizaeus-Merzbacher disease semapv:UnspecifiedMatching MONDO:0010714 Pelizaeus-Merzbacher spectrum disorder skos:exactMatch SCTID:64855000 semapv:UnspecifiedMatching MONDO:0010714 Pelizaeus-Merzbacher spectrum disorder skos:exactMatch UMLS:C0205711 semapv:UnspecifiedMatching MONDO:0010714 Pelizaeus-Merzbacher spectrum disorder skos:exactMatch icd11.foundation:1313582105 Pelizaeus-Merzbacher disease semapv:UnspecifiedMatching MONDO:0010714 Pelizaeus-Merzbacher spectrum disorder skos:exactMatch mesh:D020371 semapv:UnspecifiedMatching MONDO:0010716 X-linked lethal multiple pterygium syndrome skos:exactMatch MEDGEN:374225 semapv:UnspecifiedMatching MONDO:0010716 X-linked lethal multiple pterygium syndrome skos:exactMatch OMIM:312150 multiple pterygium syndrome, X-linked semapv:UnspecifiedMatching MONDO:0010716 X-linked lethal multiple pterygium syndrome skos:exactMatch Orphanet:79447 X-linked lethal multiple pterygium syndrome semapv:UnspecifiedMatching MONDO:0010716 X-linked lethal multiple pterygium syndrome skos:exactMatch SCTID:763462004 semapv:UnspecifiedMatching MONDO:0010716 X-linked lethal multiple pterygium syndrome skos:exactMatch UMLS:C1839440 semapv:UnspecifiedMatching MONDO:0010716 X-linked lethal multiple pterygium syndrome skos:exactMatch mesh:C564072 semapv:UnspecifiedMatching MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency skos:exactMatch MEDGEN:326486 semapv:UnspecifiedMatching MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency skos:exactMatch OMIM:312170 pyruvate dehydrogenase e1-alpha deficiency semapv:UnspecifiedMatching MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency skos:exactMatch Orphanet:79243 Pyruvate dehydrogenase E1-alpha deficiency semapv:UnspecifiedMatching MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency skos:exactMatch SCTID:124593001 semapv:UnspecifiedMatching MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency skos:exactMatch UMLS:C1839413 semapv:UnspecifiedMatching MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency skos:exactMatch mesh:C564071 semapv:UnspecifiedMatching MONDO:0010718 absent radius-anogenital anomalies syndrome skos:exactMatch MEDGEN:333312 semapv:UnspecifiedMatching MONDO:0010718 absent radius-anogenital anomalies syndrome skos:exactMatch OMIM:312190 radial aplasia, X-linked semapv:UnspecifiedMatching MONDO:0010718 absent radius-anogenital anomalies syndrome skos:exactMatch Orphanet:3016 Absent radius-anogenital anomalies syndrome semapv:UnspecifiedMatching MONDO:0010718 absent radius-anogenital anomalies syndrome skos:exactMatch UMLS:C1839410 semapv:UnspecifiedMatching MONDO:0010718 absent radius-anogenital anomalies syndrome skos:exactMatch mesh:C535281 semapv:UnspecifiedMatching MONDO:0010719 radiation sensitivity of natural killer activity skos:exactMatch MEDGEN:333311 semapv:UnspecifiedMatching MONDO:0010719 radiation sensitivity of natural killer activity skos:exactMatch OMIM:312210 radiation sensitivity of natural killer activity semapv:UnspecifiedMatching MONDO:0010719 radiation sensitivity of natural killer activity skos:exactMatch UMLS:C1839408 semapv:UnspecifiedMatching MONDO:0010719 radiation sensitivity of natural killer activity skos:exactMatch mesh:C564066 semapv:UnspecifiedMatching MONDO:0010720 partial androgen insensitivity syndrome skos:exactMatch DOID:0080776 partial androgen insensitivity syndrome semapv:UnspecifiedMatching MONDO:0010720 partial androgen insensitivity syndrome skos:exactMatch ICD10CM:E34.52 Partial androgen insensitivity syndrome semapv:UnspecifiedMatching MONDO:0010720 partial androgen insensitivity syndrome skos:exactMatch MEDGEN:82785 semapv:UnspecifiedMatching MONDO:0010720 partial androgen insensitivity syndrome skos:exactMatch NCIT:C120192 Partial Androgen Insensitivity Syndrome semapv:UnspecifiedMatching MONDO:0010720 partial androgen insensitivity syndrome skos:exactMatch OMIM:312300 androgen insensitivity, partial semapv:UnspecifiedMatching MONDO:0010720 partial androgen insensitivity syndrome skos:exactMatch Orphanet:90797 Partial androgen insensitivity syndrome semapv:UnspecifiedMatching MONDO:0010720 partial androgen insensitivity syndrome skos:exactMatch SCTID:122811000119101 semapv:UnspecifiedMatching MONDO:0010720 partial androgen insensitivity syndrome skos:exactMatch UMLS:C0268301 semapv:UnspecifiedMatching MONDO:0010720 partial androgen insensitivity syndrome skos:exactMatch mesh:C538435 semapv:UnspecifiedMatching MONDO:0010721 reticuloendotheliosis, X-linked skos:exactMatch MEDGEN:19757 semapv:UnspecifiedMatching MONDO:0010721 reticuloendotheliosis, X-linked skos:exactMatch OMIM:312500 reticuloendotheliosis, X-linked semapv:UnspecifiedMatching MONDO:0010721 reticuloendotheliosis, X-linked skos:exactMatch UMLS:C0035288 semapv:UnspecifiedMatching MONDO:0010721 reticuloendotheliosis, X-linked skos:exactMatch mesh:C538362 semapv:UnspecifiedMatching MONDO:0010722 X-linked retinal dysplasia skos:exactMatch MEDGEN:909011 semapv:UnspecifiedMatching MONDO:0010722 X-linked retinal dysplasia skos:exactMatch OMIM:312550 retinal dysplasia, primary semapv:UnspecifiedMatching MONDO:0010722 X-linked retinal dysplasia skos:exactMatch Orphanet:1852 X-linked retinal dysplasia semapv:UnspecifiedMatching MONDO:0010722 X-linked retinal dysplasia skos:exactMatch SCTID:715240000 semapv:UnspecifiedMatching MONDO:0010722 X-linked retinal dysplasia skos:exactMatch UMLS:C4275241 semapv:UnspecifiedMatching MONDO:0010723 retinitis pigmentosa 2 skos:exactMatch DOID:0110415 retinitis pigmentosa 2 semapv:UnspecifiedMatching MONDO:0010723 retinitis pigmentosa 2 skos:exactMatch MEDGEN:394544 semapv:UnspecifiedMatching MONDO:0010723 retinitis pigmentosa 2 skos:exactMatch OMIM:312600 retinitis pigmentosa 2 semapv:UnspecifiedMatching MONDO:0010723 retinitis pigmentosa 2 skos:exactMatch UMLS:C2681923 semapv:UnspecifiedMatching MONDO:0010723 retinitis pigmentosa 2 skos:exactMatch mesh:C567523 semapv:UnspecifiedMatching MONDO:0010725 X-linked retinoschisis skos:exactMatch DOID:0060763 X-linked juvenile retinoschisis 1 semapv:UnspecifiedMatching MONDO:0010725 X-linked retinoschisis skos:exactMatch MEDGEN:811458 semapv:UnspecifiedMatching MONDO:0010725 X-linked retinoschisis skos:exactMatch NCIT:C75483 Juvenile X-Linked Retinoschisis semapv:UnspecifiedMatching MONDO:0010725 X-linked retinoschisis skos:exactMatch OMIM:312700 retinoschisis 1, x-linked, juvenile semapv:UnspecifiedMatching MONDO:0010725 X-linked retinoschisis skos:exactMatch Orphanet:792 X-linked retinoschisis semapv:UnspecifiedMatching MONDO:0010725 X-linked retinoschisis skos:exactMatch SCTID:86923008 semapv:UnspecifiedMatching MONDO:0010725 X-linked retinoschisis skos:exactMatch UMLS:C3714753 semapv:UnspecifiedMatching MONDO:0010725 X-linked retinoschisis skos:exactMatch icd11.foundation:2074506458 Juvenile retinoschisis semapv:UnspecifiedMatching MONDO:0010726 Rett syndrome skos:exactMatch DOID:1206 Rett syndrome semapv:UnspecifiedMatching MONDO:0010726 Rett syndrome skos:exactMatch MEDGEN:48441 semapv:UnspecifiedMatching MONDO:0010726 Rett syndrome skos:exactMatch NCIT:C75488 Rett Syndrome semapv:UnspecifiedMatching MONDO:0010726 Rett syndrome skos:exactMatch OMIM:312750 rett syndrome semapv:UnspecifiedMatching MONDO:0010726 Rett syndrome skos:exactMatch Orphanet:778 Rett syndrome semapv:UnspecifiedMatching MONDO:0010726 Rett syndrome skos:exactMatch SCTID:68618008 semapv:UnspecifiedMatching MONDO:0010726 Rett syndrome skos:exactMatch UMLS:C0035372 semapv:UnspecifiedMatching MONDO:0010726 Rett syndrome skos:exactMatch icd11.foundation:201200685 Rett syndrome semapv:UnspecifiedMatching MONDO:0010726 Rett syndrome skos:exactMatch mesh:D015518 semapv:UnspecifiedMatching MONDO:0010727 Russell-silver syndrome, X-linked skos:exactMatch MEDGEN:67401 semapv:UnspecifiedMatching MONDO:0010727 Russell-silver syndrome, X-linked skos:exactMatch OMIM:312780 russell-silver syndrome, X-linked semapv:UnspecifiedMatching MONDO:0010727 Russell-silver syndrome, X-linked skos:exactMatch UMLS:C0220775 semapv:UnspecifiedMatching MONDO:0010728 SCARF syndrome skos:exactMatch MEDGEN:326461 semapv:UnspecifiedMatching MONDO:0010728 SCARF syndrome skos:exactMatch OMIM:312830 scarf syndrome semapv:UnspecifiedMatching MONDO:0010728 SCARF syndrome skos:exactMatch Orphanet:3134 SCARF syndrome semapv:UnspecifiedMatching MONDO:0010728 SCARF syndrome skos:exactMatch SCTID:734173003 semapv:UnspecifiedMatching MONDO:0010728 SCARF syndrome skos:exactMatch UMLS:C1839321 semapv:UnspecifiedMatching MONDO:0010728 SCARF syndrome skos:exactMatch icd11.foundation:1075253748 SCARF syndrome semapv:UnspecifiedMatching MONDO:0010728 SCARF syndrome skos:exactMatch mesh:C536625 semapv:UnspecifiedMatching MONDO:0010729 X-linked intellectual disability, Schimke type skos:exactMatch MEDGEN:374193 semapv:UnspecifiedMatching MONDO:0010729 X-linked intellectual disability, Schimke type skos:exactMatch OMIM:312840 schimke syndrome semapv:UnspecifiedMatching MONDO:0010729 X-linked intellectual disability, Schimke type skos:exactMatch Orphanet:85285 X-linked intellectual disability, Schimke type semapv:UnspecifiedMatching MONDO:0010729 X-linked intellectual disability, Schimke type skos:exactMatch SCTID:719010001 semapv:UnspecifiedMatching MONDO:0010729 X-linked intellectual disability, Schimke type skos:exactMatch UMLS:C1839320 semapv:UnspecifiedMatching MONDO:0010729 X-linked intellectual disability, Schimke type skos:exactMatch mesh:C536630 semapv:UnspecifiedMatching MONDO:0010730 combined immunodeficiency, X-linked skos:exactMatch EFO:1001451 semapv:UnspecifiedMatching MONDO:0010730 combined immunodeficiency, X-linked skos:exactMatch OMIM:312863 combined immunodeficiency, X-linked semapv:UnspecifiedMatching MONDO:0010731 Simpson-Golabi-Behmel syndrome skos:exactMatch MEDGEN:1387611 semapv:UnspecifiedMatching MONDO:0010731 Simpson-Golabi-Behmel syndrome skos:exactMatch NCIT:C131002 Simpson-Golabi-Behmel Syndrome semapv:UnspecifiedMatching MONDO:0010731 Simpson-Golabi-Behmel syndrome skos:exactMatch Orphanet:373 Simpson-Golabi-Behmel syndrome semapv:UnspecifiedMatching MONDO:0010731 Simpson-Golabi-Behmel syndrome skos:exactMatch SCTID:439143004 semapv:UnspecifiedMatching MONDO:0010731 Simpson-Golabi-Behmel syndrome skos:exactMatch UMLS:C4317043 semapv:UnspecifiedMatching MONDO:0010731 Simpson-Golabi-Behmel syndrome skos:exactMatch icd11.foundation:181316558 Simpson-Golabi-Behmel syndrome semapv:UnspecifiedMatching MONDO:0010731 Simpson-Golabi-Behmel syndrome skos:exactMatch mesh:C537340 semapv:UnspecifiedMatching MONDO:0010732 spastic paraparesis-deafness syndrome skos:exactMatch DOID:0081100 spastic paraplegia with deafness semapv:UnspecifiedMatching MONDO:0010732 spastic paraparesis-deafness syndrome skos:exactMatch MEDGEN:419037 semapv:UnspecifiedMatching MONDO:0010732 spastic paraparesis-deafness syndrome skos:exactMatch OMIM:312910 spastic paraparesis and deafness semapv:UnspecifiedMatching MONDO:0010732 spastic paraparesis-deafness syndrome skos:exactMatch Orphanet:2815 Spastic paraparesis-deafness syndrome semapv:UnspecifiedMatching MONDO:0010732 spastic paraparesis-deafness syndrome skos:exactMatch SCTID:715504003 semapv:UnspecifiedMatching MONDO:0010732 spastic paraparesis-deafness syndrome skos:exactMatch UMLS:C2931291 semapv:UnspecifiedMatching MONDO:0010732 spastic paraparesis-deafness syndrome skos:exactMatch mesh:C536692 semapv:UnspecifiedMatching MONDO:0010733 hereditary spastic paraplegia 2 skos:exactMatch DOID:0110773 hereditary spastic paraplegia 2 semapv:UnspecifiedMatching MONDO:0010733 hereditary spastic paraplegia 2 skos:exactMatch MEDGEN:199692 semapv:UnspecifiedMatching MONDO:0010733 hereditary spastic paraplegia 2 skos:exactMatch OMIM:312920 spastic paraplegia 2, X-linked semapv:UnspecifiedMatching MONDO:0010733 hereditary spastic paraplegia 2 skos:exactMatch Orphanet:99015 Spastic paraplegia type 2 semapv:UnspecifiedMatching MONDO:0010733 hereditary spastic paraplegia 2 skos:exactMatch SCTID:723622007 semapv:UnspecifiedMatching MONDO:0010733 hereditary spastic paraplegia 2 skos:exactMatch UMLS:C0751604 semapv:UnspecifiedMatching MONDO:0010734 spatial visualization, aptitude for skos:exactMatch MEDGEN:326850 semapv:UnspecifiedMatching MONDO:0010734 spatial visualization, aptitude for skos:exactMatch OMIM:313000 spatial visualization, aptitude for semapv:UnspecifiedMatching MONDO:0010734 spatial visualization, aptitude for skos:exactMatch UMLS:C1839262 semapv:UnspecifiedMatching MONDO:0010734 spatial visualization, aptitude for skos:exactMatch mesh:C564058 semapv:UnspecifiedMatching MONDO:0010735 Kennedy disease skos:exactMatch DOID:0060161 Kennedy's disease semapv:UnspecifiedMatching MONDO:0010735 Kennedy disease skos:exactMatch MEDGEN:333282 semapv:UnspecifiedMatching MONDO:0010735 Kennedy disease skos:exactMatch NCIT:C85233 Spinal and Bulbar Muscular Atrophy, X-linked 1 semapv:UnspecifiedMatching MONDO:0010735 Kennedy disease skos:exactMatch OMIM:313200 spinal and bulbar muscular atrophy, X-linked 1 semapv:UnspecifiedMatching MONDO:0010735 Kennedy disease skos:exactMatch Orphanet:481 Kennedy disease semapv:UnspecifiedMatching MONDO:0010735 Kennedy disease skos:exactMatch UMLS:C1839259 semapv:UnspecifiedMatching MONDO:0010735 Kennedy disease skos:exactMatch mesh:D055534 semapv:UnspecifiedMatching MONDO:0010736 split hand-foot malformation 2 skos:exactMatch DOID:0090027 split hand-foot malformation 2 semapv:UnspecifiedMatching MONDO:0010736 split hand-foot malformation 2 skos:exactMatch MEDGEN:326848 semapv:UnspecifiedMatching MONDO:0010736 split hand-foot malformation 2 skos:exactMatch OMIM:313350 split-hand/foot malformation 2 semapv:UnspecifiedMatching MONDO:0010736 split hand-foot malformation 2 skos:exactMatch UMLS:C1839258 semapv:UnspecifiedMatching MONDO:0010736 split hand-foot malformation 2 skos:exactMatch mesh:C564056 semapv:UnspecifiedMatching MONDO:0010737 spondyloepiphyseal dysplasia tarda, X-linked skos:exactMatch DOID:0080362 X-linked spondyloepiphyseal dysplasia tarda semapv:UnspecifiedMatching MONDO:0010737 spondyloepiphyseal dysplasia tarda, X-linked skos:exactMatch MEDGEN:762085 semapv:UnspecifiedMatching MONDO:0010737 spondyloepiphyseal dysplasia tarda, X-linked skos:exactMatch OMIM:313400 spondyloepiphyseal dysplasia tarda, X-linked semapv:UnspecifiedMatching MONDO:0010737 spondyloepiphyseal dysplasia tarda, X-linked skos:exactMatch UMLS:C3541456 semapv:UnspecifiedMatching MONDO:0010737 spondyloepiphyseal dysplasia tarda, X-linked skos:exactMatch icd11.foundation:219612045 Spondyloepiphyseal dysplasia tarda, X-linked semapv:UnspecifiedMatching MONDO:0010738 spondylometaphyseal dysplasia, Golden type skos:exactMatch MEDGEN:208672 semapv:UnspecifiedMatching MONDO:0010738 spondylometaphyseal dysplasia, Golden type skos:exactMatch OMIM:313420 spondylometaphyseal dysplasia, X-linked semapv:UnspecifiedMatching MONDO:0010738 spondylometaphyseal dysplasia, Golden type skos:exactMatch Orphanet:168544 Spondylometaphyseal dysplasia, Golden type semapv:UnspecifiedMatching MONDO:0010738 spondylometaphyseal dysplasia, Golden type skos:exactMatch UMLS:C0796172 semapv:UnspecifiedMatching MONDO:0010738 spondylometaphyseal dysplasia, Golden type skos:exactMatch icd11.foundation:840695879 Spondylometaphyseal dysplasia, Golden type semapv:UnspecifiedMatching MONDO:0010738 spondylometaphyseal dysplasia, Golden type skos:exactMatch mesh:C563124 semapv:UnspecifiedMatching MONDO:0010739 Taqi polymorphism skos:exactMatch MEDGEN:374172 semapv:UnspecifiedMatching MONDO:0010739 Taqi polymorphism skos:exactMatch OMIM:313480 taqi polymorphism semapv:UnspecifiedMatching MONDO:0010739 Taqi polymorphism skos:exactMatch UMLS:C1839238 semapv:UnspecifiedMatching MONDO:0010740 taurodontism, microdontia, and dens invaginatus skos:exactMatch MEDGEN:374171 semapv:UnspecifiedMatching MONDO:0010740 taurodontism, microdontia, and dens invaginatus skos:exactMatch OMIM:313490 taurodontism, microdontia, and dens invaginatus semapv:UnspecifiedMatching MONDO:0010740 taurodontism, microdontia, and dens invaginatus skos:exactMatch UMLS:C1839235 semapv:UnspecifiedMatching MONDO:0010740 taurodontism, microdontia, and dens invaginatus skos:exactMatch mesh:C536947 semapv:UnspecifiedMatching MONDO:0010741 tooth agenesis, selective, X-linked, 1 skos:exactMatch MEDGEN:410143 semapv:UnspecifiedMatching MONDO:0010741 tooth agenesis, selective, X-linked, 1 skos:exactMatch OMIM:313500 tooth agenesis, selective, x-linked, 1 semapv:UnspecifiedMatching MONDO:0010741 tooth agenesis, selective, X-linked, 1 skos:exactMatch UMLS:C1970757 semapv:UnspecifiedMatching MONDO:0010741 tooth agenesis, selective, X-linked, 1 skos:exactMatch mesh:C567060 semapv:UnspecifiedMatching MONDO:0010742 pentalogy of Cantrell skos:exactMatch MEDGEN:107540 semapv:UnspecifiedMatching MONDO:0010742 pentalogy of Cantrell skos:exactMatch NCIT:C99011 Pentalogy of Cantrell semapv:UnspecifiedMatching MONDO:0010742 pentalogy of Cantrell skos:exactMatch OMIM:313850 thoracoabdominal syndrome semapv:UnspecifiedMatching MONDO:0010742 pentalogy of Cantrell skos:exactMatch Orphanet:1335 Pentalogy of Cantrell semapv:UnspecifiedMatching MONDO:0010742 pentalogy of Cantrell skos:exactMatch SCTID:281587000 semapv:UnspecifiedMatching MONDO:0010742 pentalogy of Cantrell skos:exactMatch UMLS:C0559483 semapv:UnspecifiedMatching MONDO:0010742 pentalogy of Cantrell skos:exactMatch mesh:D058502 semapv:UnspecifiedMatching MONDO:0010743 thrombocytopenia 1 skos:exactMatch MEDGEN:326416 semapv:UnspecifiedMatching MONDO:0010743 thrombocytopenia 1 skos:exactMatch NCIT:C176617 Thrombocytopenia 1 semapv:UnspecifiedMatching MONDO:0010743 thrombocytopenia 1 skos:exactMatch OMIM:313900 thrombocytopenia 1 semapv:UnspecifiedMatching MONDO:0010743 thrombocytopenia 1 skos:exactMatch Orphanet:852 X-linked thrombocytopenia with normal platelets semapv:UnspecifiedMatching MONDO:0010743 thrombocytopenia 1 skos:exactMatch UMLS:C1839163 semapv:UnspecifiedMatching MONDO:0010743 thrombocytopenia 1 skos:exactMatch mesh:C564052 semapv:UnspecifiedMatching MONDO:0010744 thrombocytopenia with elevated serum IgA and renal disease skos:exactMatch MEDGEN:374149 semapv:UnspecifiedMatching MONDO:0010744 thrombocytopenia with elevated serum IgA and renal disease skos:exactMatch OMIM:314000 thrombocytopenia with elevated serum iga and renal disease semapv:UnspecifiedMatching MONDO:0010744 thrombocytopenia with elevated serum IgA and renal disease skos:exactMatch UMLS:C1839162 semapv:UnspecifiedMatching MONDO:0010744 thrombocytopenia with elevated serum IgA and renal disease skos:exactMatch mesh:C564051 semapv:UnspecifiedMatching MONDO:0010745 beta-thalassemia-X-linked thrombocytopenia syndrome skos:exactMatch DOID:0111767 X-linked thrombocytopenia with beta-thalassemia semapv:UnspecifiedMatching MONDO:0010745 beta-thalassemia-X-linked thrombocytopenia syndrome skos:exactMatch MEDGEN:326415 semapv:UnspecifiedMatching MONDO:0010745 beta-thalassemia-X-linked thrombocytopenia syndrome skos:exactMatch NCIT:C134941 X-Linked Thrombocytopenia with Beta-Thalassemia semapv:UnspecifiedMatching MONDO:0010745 beta-thalassemia-X-linked thrombocytopenia syndrome skos:exactMatch OMIM:314050 thrombocytopenia with beta-thalassemia, X-linked semapv:UnspecifiedMatching MONDO:0010745 beta-thalassemia-X-linked thrombocytopenia syndrome skos:exactMatch Orphanet:231393 Beta-thalassemia-X-linked thrombocytopenia syndrome semapv:UnspecifiedMatching MONDO:0010745 beta-thalassemia-X-linked thrombocytopenia syndrome skos:exactMatch SCTID:718196002 semapv:UnspecifiedMatching MONDO:0010745 beta-thalassemia-X-linked thrombocytopenia syndrome skos:exactMatch UMLS:C1839161 semapv:UnspecifiedMatching MONDO:0010745 beta-thalassemia-X-linked thrombocytopenia syndrome skos:exactMatch icd11.foundation:905057212 Beta-thalassemia-X-linked thrombocytopenia syndrome semapv:UnspecifiedMatching MONDO:0010745 beta-thalassemia-X-linked thrombocytopenia syndrome skos:exactMatch mesh:C564050 semapv:UnspecifiedMatching MONDO:0010746 thumbs, congenital Clasped skos:exactMatch MEDGEN:98140 semapv:UnspecifiedMatching MONDO:0010746 thumbs, congenital Clasped skos:exactMatch OMIM:314100 adducted thumbs, congenital semapv:UnspecifiedMatching MONDO:0010746 thumbs, congenital Clasped skos:exactMatch UMLS:C0431886 semapv:UnspecifiedMatching MONDO:0010747 X-linked dystonia-parkinsonism skos:exactMatch DOID:0090057 X-linked dystonia-parkinsonism semapv:UnspecifiedMatching MONDO:0010747 X-linked dystonia-parkinsonism skos:exactMatch MEDGEN:326820 semapv:UnspecifiedMatching MONDO:0010747 X-linked dystonia-parkinsonism skos:exactMatch NCIT:C126330 X-Linked Dystonia Parkinsonism semapv:UnspecifiedMatching MONDO:0010747 X-linked dystonia-parkinsonism skos:exactMatch OMIM:314250 dystonia 3, torsion, X-linked semapv:UnspecifiedMatching MONDO:0010747 X-linked dystonia-parkinsonism skos:exactMatch Orphanet:53351 X-linked dystonia-parkinsonism semapv:UnspecifiedMatching MONDO:0010747 X-linked dystonia-parkinsonism skos:exactMatch SCTID:698279003 semapv:UnspecifiedMatching MONDO:0010747 X-linked dystonia-parkinsonism skos:exactMatch UMLS:C1839130 semapv:UnspecifiedMatching MONDO:0010747 X-linked dystonia-parkinsonism skos:exactMatch mesh:C564048 semapv:UnspecifiedMatching MONDO:0010748 torticollis-keloids-cryptorchidism-renal dysplasia syndrome skos:exactMatch MEDGEN:326819 semapv:UnspecifiedMatching MONDO:0010748 torticollis-keloids-cryptorchidism-renal dysplasia syndrome skos:exactMatch OMIM:314300 torticollis, keloids, cryptorchidism, and renal dysplasia semapv:UnspecifiedMatching MONDO:0010748 torticollis-keloids-cryptorchidism-renal dysplasia syndrome skos:exactMatch Orphanet:3341 Torticollis-keloids-cryptorchidism-renal dysplasia syndrome semapv:UnspecifiedMatching MONDO:0010748 torticollis-keloids-cryptorchidism-renal dysplasia syndrome skos:exactMatch UMLS:C1839129 semapv:UnspecifiedMatching MONDO:0010748 torticollis-keloids-cryptorchidism-renal dysplasia syndrome skos:exactMatch mesh:C536970 semapv:UnspecifiedMatching MONDO:0010749 trigonocephaly-short stature-developmental delay syndrome skos:exactMatch MEDGEN:374138 semapv:UnspecifiedMatching MONDO:0010749 trigonocephaly-short stature-developmental delay syndrome skos:exactMatch OMIM:314320 trigonocephaly with short stature and developmental delay semapv:UnspecifiedMatching MONDO:0010749 trigonocephaly-short stature-developmental delay syndrome skos:exactMatch Orphanet:3369 Trigonocephaly-short stature-developmental delay syndrome semapv:UnspecifiedMatching MONDO:0010749 trigonocephaly-short stature-developmental delay syndrome skos:exactMatch SCTID:733066002 semapv:UnspecifiedMatching MONDO:0010749 trigonocephaly-short stature-developmental delay syndrome skos:exactMatch UMLS:C1839125 semapv:UnspecifiedMatching MONDO:0010749 trigonocephaly-short stature-developmental delay syndrome skos:exactMatch mesh:C536620 semapv:UnspecifiedMatching MONDO:0010750 ulnar hypoplasia-split foot syndrome skos:exactMatch MEDGEN:333256 semapv:UnspecifiedMatching MONDO:0010750 ulnar hypoplasia-split foot syndrome skos:exactMatch OMIM:314360 ulnar hypoplasia with lobster-claw deformity of feet semapv:UnspecifiedMatching MONDO:0010750 ulnar hypoplasia-split foot syndrome skos:exactMatch Orphanet:1122 Ulnar hypoplasia-split foot syndrome semapv:UnspecifiedMatching MONDO:0010750 ulnar hypoplasia-split foot syndrome skos:exactMatch UMLS:C1839123 semapv:UnspecifiedMatching MONDO:0010750 ulnar hypoplasia-split foot syndrome skos:exactMatch mesh:C536936 semapv:UnspecifiedMatching MONDO:0010751 unique green phenomenon skos:exactMatch MEDGEN:326816 semapv:UnspecifiedMatching MONDO:0010751 unique green phenomenon skos:exactMatch OMIM:314380 unique green phenomenon semapv:UnspecifiedMatching MONDO:0010751 unique green phenomenon skos:exactMatch UMLS:C1839116 semapv:UnspecifiedMatching MONDO:0010752 VACTERL association, X-linked, with or without hydrocephalus skos:exactMatch DOID:0111766 X-linked VACTERL association semapv:UnspecifiedMatching MONDO:0010752 VACTERL association, X-linked, with or without hydrocephalus skos:exactMatch MEDGEN:419019 semapv:UnspecifiedMatching MONDO:0010752 VACTERL association, X-linked, with or without hydrocephalus skos:exactMatch OMIM:314390 vacterl association, x-linked, with or without hydrocephalus semapv:UnspecifiedMatching MONDO:0010752 VACTERL association, X-linked, with or without hydrocephalus skos:exactMatch UMLS:C2931228 semapv:UnspecifiedMatching MONDO:0010753 cardiac valvular dysplasia, X-linked skos:exactMatch DOID:0111765 X-linked cardiac valvular dysplasia semapv:UnspecifiedMatching MONDO:0010753 cardiac valvular dysplasia, X-linked skos:exactMatch MEDGEN:78083 semapv:UnspecifiedMatching MONDO:0010753 cardiac valvular dysplasia, X-linked skos:exactMatch OMIM:314400 cardiac valvular dysplasia, X-linked semapv:UnspecifiedMatching MONDO:0010753 cardiac valvular dysplasia, X-linked skos:exactMatch Orphanet:555877 FLNA-related X-linked myxomatous valvular dysplasia semapv:UnspecifiedMatching MONDO:0010753 cardiac valvular dysplasia, X-linked skos:exactMatch SCTID:718128009 semapv:UnspecifiedMatching MONDO:0010753 cardiac valvular dysplasia, X-linked skos:exactMatch UMLS:C0262436 semapv:UnspecifiedMatching MONDO:0010753 cardiac valvular dysplasia, X-linked skos:exactMatch mesh:C535576 semapv:UnspecifiedMatching MONDO:0010754 van den Bosch syndrome skos:exactMatch MEDGEN:162920 semapv:UnspecifiedMatching MONDO:0010754 van den Bosch syndrome skos:exactMatch OMIM:314500 van den bosch syndrome semapv:UnspecifiedMatching MONDO:0010754 van den Bosch syndrome skos:exactMatch Orphanet:3417 Van den Bosch syndrome semapv:UnspecifiedMatching MONDO:0010754 van den Bosch syndrome skos:exactMatch SCTID:733110004 semapv:UnspecifiedMatching MONDO:0010754 van den Bosch syndrome skos:exactMatch UMLS:C0796192 semapv:UnspecifiedMatching MONDO:0010754 van den Bosch syndrome skos:exactMatch mesh:C563129 semapv:UnspecifiedMatching MONDO:0010755 vesicoureteral reflux, X-linked skos:exactMatch MEDGEN:374134 semapv:UnspecifiedMatching MONDO:0010755 vesicoureteral reflux, X-linked skos:exactMatch OMIM:314550 vesicoureteral reflux, X-linked semapv:UnspecifiedMatching MONDO:0010755 vesicoureteral reflux, X-linked skos:exactMatch UMLS:C1839114 semapv:UnspecifiedMatching MONDO:0010755 vesicoureteral reflux, X-linked skos:exactMatch mesh:C564042 semapv:UnspecifiedMatching MONDO:0010756 Von Willebrand disease, X-linked form skos:exactMatch MEDGEN:333255 semapv:UnspecifiedMatching MONDO:0010756 Von Willebrand disease, X-linked form skos:exactMatch OMIM:314560 von willebrand disease, X-linked form semapv:UnspecifiedMatching MONDO:0010756 Von Willebrand disease, X-linked form skos:exactMatch UMLS:C1839113 semapv:UnspecifiedMatching MONDO:0010756 Von Willebrand disease, X-linked form skos:exactMatch mesh:C564041 semapv:UnspecifiedMatching MONDO:0010757 widow's peak syndrome skos:exactMatch MEDGEN:374133 semapv:UnspecifiedMatching MONDO:0010757 widow's peak syndrome skos:exactMatch OMIM:314570 widow's peak syndrome semapv:UnspecifiedMatching MONDO:0010757 widow's peak syndrome skos:exactMatch UMLS:C1839112 semapv:UnspecifiedMatching MONDO:0010757 widow's peak syndrome skos:exactMatch mesh:C564040 semapv:UnspecifiedMatching MONDO:0010758 Wieacker-Wolff syndrome skos:exactMatch DOID:0060815 Wieacker-Wolff syndrome semapv:UnspecifiedMatching MONDO:0010758 Wieacker-Wolff syndrome skos:exactMatch MEDGEN:163227 semapv:UnspecifiedMatching MONDO:0010758 Wieacker-Wolff syndrome skos:exactMatch OMIM:314580 wieacker-wolff syndrome semapv:UnspecifiedMatching MONDO:0010758 Wieacker-Wolff syndrome skos:exactMatch Orphanet:3454 Wieacker-Wolff syndrome semapv:UnspecifiedMatching MONDO:0010758 Wieacker-Wolff syndrome skos:exactMatch Orphanet:85283 X-linked intellectual disability, Miles-Carpenter type semapv:UnspecifiedMatching MONDO:0010758 Wieacker-Wolff syndrome skos:exactMatch SCTID:719012009 semapv:UnspecifiedMatching MONDO:0010758 Wieacker-Wolff syndrome skos:exactMatch SCTID:722456001 semapv:UnspecifiedMatching MONDO:0010758 Wieacker-Wolff syndrome skos:exactMatch UMLS:C0796200 semapv:UnspecifiedMatching MONDO:0010758 Wieacker-Wolff syndrome skos:exactMatch mesh:C536703 semapv:UnspecifiedMatching MONDO:0010759 Wildervanck syndrome skos:exactMatch MEDGEN:120518 semapv:UnspecifiedMatching MONDO:0010759 Wildervanck syndrome skos:exactMatch OMIM:314600 wildervanck syndrome semapv:UnspecifiedMatching MONDO:0010759 Wildervanck syndrome skos:exactMatch Orphanet:3456 Wildervanck syndrome semapv:UnspecifiedMatching MONDO:0010759 Wildervanck syndrome skos:exactMatch SCTID:79665007 semapv:UnspecifiedMatching MONDO:0010759 Wildervanck syndrome skos:exactMatch UMLS:C0265239 semapv:UnspecifiedMatching MONDO:0010761 retinitis pigmentosa Y-linked skos:exactMatch DOID:0110418 retinitis pigmentosa Y-linked semapv:UnspecifiedMatching MONDO:0010761 retinitis pigmentosa Y-linked skos:exactMatch MEDGEN:326805 semapv:UnspecifiedMatching MONDO:0010761 retinitis pigmentosa Y-linked skos:exactMatch OMIM:400004 retinitis pigmentosa, Y-linked semapv:UnspecifiedMatching MONDO:0010761 retinitis pigmentosa Y-linked skos:exactMatch UMLS:C1839079 semapv:UnspecifiedMatching MONDO:0010761 retinitis pigmentosa Y-linked skos:exactMatch mesh:C564035 semapv:UnspecifiedMatching MONDO:0010762 lymphoma, Hodgkin, Y-linked pseudoautosomal skos:exactMatch MEDGEN:333246 semapv:UnspecifiedMatching MONDO:0010762 lymphoma, Hodgkin, Y-linked pseudoautosomal skos:exactMatch OMIM:400021 lymphoma, hodgkin, Y-linked pseudoautosomal semapv:UnspecifiedMatching MONDO:0010762 lymphoma, Hodgkin, Y-linked pseudoautosomal skos:exactMatch UMLS:C1839076 semapv:UnspecifiedMatching MONDO:0010762 lymphoma, Hodgkin, Y-linked pseudoautosomal skos:exactMatch mesh:C564034 semapv:UnspecifiedMatching MONDO:0010763 spermatogenic failure, Y-linked, 1 skos:exactMatch DOID:0070186 Y-linked spermatogenic failure 1 semapv:UnspecifiedMatching MONDO:0010763 spermatogenic failure, Y-linked, 1 skos:exactMatch MEDGEN:1634798 semapv:UnspecifiedMatching MONDO:0010763 spermatogenic failure, Y-linked, 1 skos:exactMatch OMIM:400042 spermatogenic failure, y-linked, 1 semapv:UnspecifiedMatching MONDO:0010763 spermatogenic failure, Y-linked, 1 skos:exactMatch UMLS:C4551960 semapv:UnspecifiedMatching MONDO:0010764 hearing loss, Y-linked 1 skos:exactMatch DOID:0111759 Y-linked deafness 1 semapv:UnspecifiedMatching MONDO:0010764 hearing loss, Y-linked 1 skos:exactMatch MEDGEN:854748 semapv:UnspecifiedMatching MONDO:0010764 hearing loss, Y-linked 1 skos:exactMatch OMIM:400043 deafness, Y-linked 1 semapv:UnspecifiedMatching MONDO:0010764 hearing loss, Y-linked 1 skos:exactMatch UMLS:C3888076 semapv:UnspecifiedMatching MONDO:0010765 46,XY complete gonadal dysgenesis skos:exactMatch DOID:14448 46,XY complete gonadal dysgenesis semapv:UnspecifiedMatching MONDO:0010765 46,XY complete gonadal dysgenesis skos:exactMatch MEDGEN:445380 semapv:UnspecifiedMatching MONDO:0010765 46,XY complete gonadal dysgenesis skos:exactMatch NCIT:C120198 46,XY Gonadal Dysgenesis semapv:UnspecifiedMatching MONDO:0010765 46,XY complete gonadal dysgenesis skos:exactMatch OMIMPS:400044 46,XY sex reversal semapv:UnspecifiedMatching MONDO:0010765 46,XY complete gonadal dysgenesis skos:exactMatch Orphanet:242 46,XY complete gonadal dysgenesis semapv:UnspecifiedMatching MONDO:0010765 46,XY complete gonadal dysgenesis skos:exactMatch SCTID:95218005 semapv:UnspecifiedMatching MONDO:0010765 46,XY complete gonadal dysgenesis skos:exactMatch UMLS:C2936694 semapv:UnspecifiedMatching MONDO:0010765 46,XY complete gonadal dysgenesis skos:exactMatch mesh:D006061 semapv:UnspecifiedMatching MONDO:0010767 spermatogenic failure, Y-linked, 2 skos:exactMatch DOID:0070187 Y-linked spermatogenic failure 2 semapv:UnspecifiedMatching MONDO:0010767 spermatogenic failure, Y-linked, 2 skos:exactMatch MEDGEN:326394 semapv:UnspecifiedMatching MONDO:0010767 spermatogenic failure, Y-linked, 2 skos:exactMatch OMIM:415000 spermatogenic failure, y-linked, 2 semapv:UnspecifiedMatching MONDO:0010767 spermatogenic failure, Y-linked, 2 skos:exactMatch UMLS:C1839071 semapv:UnspecifiedMatching MONDO:0010767 spermatogenic failure, Y-linked, 2 skos:exactMatch mesh:C564030 semapv:UnspecifiedMatching MONDO:0010768 gonadoblastoma skos:exactMatch DOID:3301 gonadoblastoma semapv:UnspecifiedMatching MONDO:0010768 gonadoblastoma skos:exactMatch MEDGEN:104912 semapv:UnspecifiedMatching MONDO:0010768 gonadoblastoma skos:exactMatch NCIT:C3754 Gonadoblastoma semapv:UnspecifiedMatching MONDO:0010768 gonadoblastoma skos:exactMatch UMLS:C0206661 semapv:UnspecifiedMatching MONDO:0010768 gonadoblastoma skos:exactMatch mesh:D018238 semapv:UnspecifiedMatching MONDO:0010769 hairy ears, Y-linked skos:exactMatch MEDGEN:374123 semapv:UnspecifiedMatching MONDO:0010769 hairy ears, Y-linked skos:exactMatch OMIM:425500 hairy ears, Y-linked semapv:UnspecifiedMatching MONDO:0010769 hairy ears, Y-linked skos:exactMatch UMLS:C1839070 semapv:UnspecifiedMatching MONDO:0010769 hairy ears, Y-linked skos:exactMatch mesh:C564029 semapv:UnspecifiedMatching MONDO:0010770 ubiquitin-activating enzyme, Y-linked skos:exactMatch MEDGEN:326389 semapv:UnspecifiedMatching MONDO:0010770 ubiquitin-activating enzyme, Y-linked skos:exactMatch OMIM:489000 ubiquitin-activating enzyme, Y-linked semapv:UnspecifiedMatching MONDO:0010770 ubiquitin-activating enzyme, Y-linked skos:exactMatch UMLS:C1839046 semapv:UnspecifiedMatching MONDO:0010771 histiocytoid cardiomyopathy skos:exactMatch DOID:0080198 infantile histiocytoid cardiomyopathy semapv:UnspecifiedMatching MONDO:0010771 histiocytoid cardiomyopathy skos:exactMatch MEDGEN:310844 semapv:UnspecifiedMatching MONDO:0010771 histiocytoid cardiomyopathy skos:exactMatch NCIT:C45745 Conduction System Hamartoma semapv:UnspecifiedMatching MONDO:0010771 histiocytoid cardiomyopathy skos:exactMatch OMIM:500000 cardiomyopathy, infantile histiocytoid semapv:UnspecifiedMatching MONDO:0010771 histiocytoid cardiomyopathy skos:exactMatch Orphanet:137675 Histiocytoid cardiomyopathy semapv:UnspecifiedMatching MONDO:0010771 histiocytoid cardiomyopathy skos:exactMatch UMLS:C1708371 semapv:UnspecifiedMatching MONDO:0010771 histiocytoid cardiomyopathy skos:exactMatch icd11.foundation:1870618141 Histiocytoid cardiomyopathy semapv:UnspecifiedMatching MONDO:0010771 histiocytoid cardiomyopathy skos:exactMatch mesh:C535584 semapv:UnspecifiedMatching MONDO:0010772 Leber optic atrophy and dystonia skos:exactMatch DOID:0111755 Leber hereditary optic neuropathy and dystonia semapv:UnspecifiedMatching MONDO:0010772 Leber optic atrophy and dystonia skos:exactMatch MEDGEN:333240 semapv:UnspecifiedMatching MONDO:0010772 Leber optic atrophy and dystonia skos:exactMatch OMIM:500001 leber optic atrophy and dystonia semapv:UnspecifiedMatching MONDO:0010772 Leber optic atrophy and dystonia skos:exactMatch UMLS:C1839040 semapv:UnspecifiedMatching MONDO:0010772 Leber optic atrophy and dystonia skos:exactMatch mesh:C536024 semapv:UnspecifiedMatching MONDO:0010773 mitochondrial myopathy with diabetes skos:exactMatch MEDGEN:333236 semapv:UnspecifiedMatching MONDO:0010773 mitochondrial myopathy with diabetes skos:exactMatch OMIM:500002 mitochondrial myopathy with diabetes semapv:UnspecifiedMatching MONDO:0010773 mitochondrial myopathy with diabetes skos:exactMatch Orphanet:2596 Myopathy and diabetes mellitus semapv:UnspecifiedMatching MONDO:0010773 mitochondrial myopathy with diabetes skos:exactMatch UMLS:C1839028 semapv:UnspecifiedMatching MONDO:0010773 mitochondrial myopathy with diabetes skos:exactMatch mesh:C564026 semapv:UnspecifiedMatching MONDO:0010774 striatonigral degeneration, infantile, mitochondrial skos:exactMatch MEDGEN:374113 semapv:UnspecifiedMatching MONDO:0010774 striatonigral degeneration, infantile, mitochondrial skos:exactMatch OMIM:500003 striatonigral degeneration, infantile, mitochondrial semapv:UnspecifiedMatching MONDO:0010774 striatonigral degeneration, infantile, mitochondrial skos:exactMatch UMLS:C1839022 semapv:UnspecifiedMatching MONDO:0010774 striatonigral degeneration, infantile, mitochondrial skos:exactMatch mesh:C564025 semapv:UnspecifiedMatching MONDO:0010775 retinitis pigmentosa-deafness syndrome skos:exactMatch DOID:0110829 retinitis pigmentosa-deafness syndrome semapv:UnspecifiedMatching MONDO:0010775 retinitis pigmentosa-deafness syndrome skos:exactMatch MEDGEN:1830314 semapv:UnspecifiedMatching MONDO:0010775 retinitis pigmentosa-deafness syndrome skos:exactMatch OMIM:500004 retinitis pigmentosa-deafness syndrome semapv:UnspecifiedMatching MONDO:0010775 retinitis pigmentosa-deafness syndrome skos:exactMatch SCTID:57838006 semapv:UnspecifiedMatching MONDO:0010775 retinitis pigmentosa-deafness syndrome skos:exactMatch UMLS:C5779620 semapv:UnspecifiedMatching MONDO:0010776 hypomagnesemia, hypertension, and hypercholesterolemia, mitochondrial skos:exactMatch MEDGEN:333234 semapv:UnspecifiedMatching MONDO:0010776 hypomagnesemia, hypertension, and hypercholesterolemia, mitochondrial skos:exactMatch OMIM:500005 hypomagnesemia, hypertension, and hypercholesterolemia, mitochondrial semapv:UnspecifiedMatching MONDO:0010776 hypomagnesemia, hypertension, and hypercholesterolemia, mitochondrial skos:exactMatch UMLS:C1839021 semapv:UnspecifiedMatching MONDO:0010776 hypomagnesemia, hypertension, and hypercholesterolemia, mitochondrial skos:exactMatch mesh:C564024 semapv:UnspecifiedMatching MONDO:0010777 cardiomyopathy, infantile hypertrophic skos:exactMatch DOID:0111753 infantile hypertrophic cardiomyopathy semapv:UnspecifiedMatching MONDO:0010777 cardiomyopathy, infantile hypertrophic skos:exactMatch MEDGEN:412660 semapv:UnspecifiedMatching MONDO:0010777 cardiomyopathy, infantile hypertrophic skos:exactMatch OMIM:500006 cardiomyopathy, infantile hypertrophic semapv:UnspecifiedMatching MONDO:0010777 cardiomyopathy, infantile hypertrophic skos:exactMatch UMLS:C2748884 semapv:UnspecifiedMatching MONDO:0010778 cyclic vomiting syndrome skos:exactMatch MEDGEN:57509 semapv:UnspecifiedMatching MONDO:0010778 cyclic vomiting syndrome skos:exactMatch OMIM:500007 cyclic vomiting syndrome semapv:UnspecifiedMatching MONDO:0010778 cyclic vomiting syndrome skos:exactMatch UMLS:C0152164 semapv:UnspecifiedMatching MONDO:0010778 cyclic vomiting syndrome skos:exactMatch icd11.foundation:1434288855 Cyclic vomiting syndrome semapv:UnspecifiedMatching MONDO:0010779 mitochondrial non-syndromic sensorineural hearing loss skos:exactMatch DOID:0111751 mitochondrial nonsyndromic sensorineural deafness semapv:UnspecifiedMatching MONDO:0010779 mitochondrial non-syndromic sensorineural hearing loss skos:exactMatch MEDGEN:463247 semapv:UnspecifiedMatching MONDO:0010779 mitochondrial non-syndromic sensorineural hearing loss skos:exactMatch OMIM:500008 deafness, nonsyndromic sensorineural, mitochondrial semapv:UnspecifiedMatching MONDO:0010779 mitochondrial non-syndromic sensorineural hearing loss skos:exactMatch Orphanet:90641 Rare mitochondrial non-syndromic sensorineural deafness semapv:UnspecifiedMatching MONDO:0010779 mitochondrial non-syndromic sensorineural hearing loss skos:exactMatch UMLS:C3151897 semapv:UnspecifiedMatching MONDO:0010780 mitochondrial myopathy with reversible cytochrome C oxidase deficiency skos:exactMatch MEDGEN:463248 semapv:UnspecifiedMatching MONDO:0010780 mitochondrial myopathy with reversible cytochrome C oxidase deficiency skos:exactMatch OMIM:500009 mitochondrial myopathy, infantile, transient semapv:UnspecifiedMatching MONDO:0010780 mitochondrial myopathy with reversible cytochrome C oxidase deficiency skos:exactMatch Orphanet:254864 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency semapv:UnspecifiedMatching MONDO:0010780 mitochondrial myopathy with reversible cytochrome C oxidase deficiency skos:exactMatch UMLS:C3151898 semapv:UnspecifiedMatching MONDO:0010780 mitochondrial myopathy with reversible cytochrome C oxidase deficiency skos:exactMatch icd11.foundation:723205095 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency semapv:UnspecifiedMatching MONDO:0010781 ataxia and polyneuropathy, adult-onset skos:exactMatch DOID:0111750 adult-onset ataxia and polyneuropathy semapv:UnspecifiedMatching MONDO:0010781 ataxia and polyneuropathy, adult-onset skos:exactMatch MEDGEN:374087 semapv:UnspecifiedMatching MONDO:0010781 ataxia and polyneuropathy, adult-onset skos:exactMatch OMIM:500010 ataxia and polyneuropathy, adult-onset semapv:UnspecifiedMatching MONDO:0010781 ataxia and polyneuropathy, adult-onset skos:exactMatch UMLS:C1838916 semapv:UnspecifiedMatching MONDO:0010781 ataxia and polyneuropathy, adult-onset skos:exactMatch mesh:C564020 semapv:UnspecifiedMatching MONDO:0010782 myopathy, lactic acidosis, and sideroblastic anemia 3 skos:exactMatch DOID:0111184 myopathy, lactic acidosis, and sideroblastic anemia 3 semapv:UnspecifiedMatching MONDO:0010782 myopathy, lactic acidosis, and sideroblastic anemia 3 skos:exactMatch MEDGEN:903059 semapv:UnspecifiedMatching MONDO:0010782 myopathy, lactic acidosis, and sideroblastic anemia 3 skos:exactMatch OMIM:500011 myopathy, lactic acidosis, and sideroblastic anemia 3 semapv:UnspecifiedMatching MONDO:0010782 myopathy, lactic acidosis, and sideroblastic anemia 3 skos:exactMatch UMLS:C4225415 semapv:UnspecifiedMatching MONDO:0010784 chloramphenicol toxicity skos:exactMatch MEDGEN:545740 semapv:UnspecifiedMatching MONDO:0010784 chloramphenicol toxicity skos:exactMatch OMIM:515000 chloramphenicol toxicity semapv:UnspecifiedMatching MONDO:0010784 chloramphenicol toxicity skos:exactMatch UMLS:C0274502 semapv:UnspecifiedMatching MONDO:0010785 maternally-inherited diabetes and deafness skos:exactMatch MEDGEN:90979 semapv:UnspecifiedMatching MONDO:0010785 maternally-inherited diabetes and deafness skos:exactMatch NCIT:C131859 Mitochondrial Diabetes semapv:UnspecifiedMatching MONDO:0010785 maternally-inherited diabetes and deafness skos:exactMatch OMIM:520000 diabetes and deafness, maternally inherited semapv:UnspecifiedMatching MONDO:0010785 maternally-inherited diabetes and deafness skos:exactMatch SCTID:237619009 semapv:UnspecifiedMatching MONDO:0010785 maternally-inherited diabetes and deafness skos:exactMatch UMLS:C0342289 semapv:UnspecifiedMatching MONDO:0010785 maternally-inherited diabetes and deafness skos:exactMatch icd11.foundation:2133824111 Maternally inherited diabetes and deafness semapv:UnspecifiedMatching MONDO:0010785 maternally-inherited diabetes and deafness skos:exactMatch mesh:C536246 semapv:UnspecifiedMatching MONDO:0010786 chronic diarrhea with villous atrophy skos:exactMatch MEDGEN:325129 semapv:UnspecifiedMatching MONDO:0010786 chronic diarrhea with villous atrophy skos:exactMatch OMIM:520100 diarrhea, chronic, with villous atrophy semapv:UnspecifiedMatching MONDO:0010786 chronic diarrhea with villous atrophy skos:exactMatch Orphanet:1670 Chronic diarrhea with villous atrophy semapv:UnspecifiedMatching MONDO:0010786 chronic diarrhea with villous atrophy skos:exactMatch UMLS:C1838912 semapv:UnspecifiedMatching MONDO:0010786 chronic diarrhea with villous atrophy skos:exactMatch mesh:C564019 semapv:UnspecifiedMatching MONDO:0010787 Kearns-Sayre syndrome skos:exactMatch DOID:12934 Kearns-Sayre syndrome semapv:UnspecifiedMatching MONDO:0010787 Kearns-Sayre syndrome skos:exactMatch ICD10CM:H49.81 Kearns-Sayre syndrome semapv:UnspecifiedMatching MONDO:0010787 Kearns-Sayre syndrome skos:exactMatch MEDGEN:9618 semapv:UnspecifiedMatching MONDO:0010787 Kearns-Sayre syndrome skos:exactMatch NCIT:C84798 Kearns-Sayre Syndrome semapv:UnspecifiedMatching MONDO:0010787 Kearns-Sayre syndrome skos:exactMatch OMIM:530000 kearns-sayre syndrome semapv:UnspecifiedMatching MONDO:0010787 Kearns-Sayre syndrome skos:exactMatch Orphanet:480 Kearns-Sayre syndrome semapv:UnspecifiedMatching MONDO:0010787 Kearns-Sayre syndrome skos:exactMatch SCTID:25792000 semapv:UnspecifiedMatching MONDO:0010787 Kearns-Sayre syndrome skos:exactMatch UMLS:C0022541 semapv:UnspecifiedMatching MONDO:0010787 Kearns-Sayre syndrome skos:exactMatch icd11.foundation:399100745 Kearns-Sayre syndrome semapv:UnspecifiedMatching MONDO:0010787 Kearns-Sayre syndrome skos:exactMatch mesh:D007625 semapv:UnspecifiedMatching MONDO:0010788 Leber hereditary optic neuropathy skos:exactMatch DOID:705 Leber hereditary optic neuropathy semapv:UnspecifiedMatching MONDO:0010788 Leber hereditary optic neuropathy skos:exactMatch MEDGEN:182973 semapv:UnspecifiedMatching MONDO:0010788 Leber hereditary optic neuropathy skos:exactMatch NCIT:C84808 Leber Hereditary Optic Atrophy semapv:UnspecifiedMatching MONDO:0010788 Leber hereditary optic neuropathy skos:exactMatch OMIM:535000 leber optic atrophy semapv:UnspecifiedMatching MONDO:0010788 Leber hereditary optic neuropathy skos:exactMatch Orphanet:104 Leber hereditary optic neuropathy semapv:UnspecifiedMatching MONDO:0010788 Leber hereditary optic neuropathy skos:exactMatch SCTID:58610003 semapv:UnspecifiedMatching MONDO:0010788 Leber hereditary optic neuropathy skos:exactMatch UMLS:C0917796 semapv:UnspecifiedMatching MONDO:0010788 Leber hereditary optic neuropathy skos:exactMatch icd11.foundation:1018428959 Leber hereditary optic neuropathy semapv:UnspecifiedMatching MONDO:0010788 Leber hereditary optic neuropathy skos:exactMatch mesh:D029242 semapv:UnspecifiedMatching MONDO:0010789 MELAS syndrome skos:exactMatch DOID:3687 MELAS syndrome semapv:UnspecifiedMatching MONDO:0010789 MELAS syndrome skos:exactMatch ICD10CM:E88.41 MELAS syndrome semapv:UnspecifiedMatching MONDO:0010789 MELAS syndrome skos:exactMatch MEDGEN:56485 semapv:UnspecifiedMatching MONDO:0010789 MELAS syndrome skos:exactMatch NCIT:C84885 MELAS Syndrome semapv:UnspecifiedMatching MONDO:0010789 MELAS syndrome skos:exactMatch OMIM:540000 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes semapv:UnspecifiedMatching MONDO:0010789 MELAS syndrome skos:exactMatch Orphanet:550 MELAS semapv:UnspecifiedMatching MONDO:0010789 MELAS syndrome skos:exactMatch SCTID:39925003 semapv:UnspecifiedMatching MONDO:0010789 MELAS syndrome skos:exactMatch UMLS:C0162671 semapv:UnspecifiedMatching MONDO:0010789 MELAS syndrome skos:exactMatch mesh:D017241 semapv:UnspecifiedMatching MONDO:0010790 MERRF syndrome skos:exactMatch DOID:310 MERRF syndrome semapv:UnspecifiedMatching MONDO:0010790 MERRF syndrome skos:exactMatch ICD10CM:E88.42 MERRF syndrome semapv:UnspecifiedMatching MONDO:0010790 MERRF syndrome skos:exactMatch MEDGEN:56486 semapv:UnspecifiedMatching MONDO:0010790 MERRF syndrome skos:exactMatch NCIT:C84889 Myoclonic Epilepsy Associated with Ragged-Red Fibers semapv:UnspecifiedMatching MONDO:0010790 MERRF syndrome skos:exactMatch OMIM:545000 myoclonic epilepsy associated with ragged-red fibers semapv:UnspecifiedMatching MONDO:0010790 MERRF syndrome skos:exactMatch Orphanet:551 MERRF semapv:UnspecifiedMatching MONDO:0010790 MERRF syndrome skos:exactMatch SCTID:68448003 semapv:UnspecifiedMatching MONDO:0010790 MERRF syndrome skos:exactMatch UMLS:C0162672 semapv:UnspecifiedMatching MONDO:0010790 MERRF syndrome skos:exactMatch mesh:D017243 semapv:UnspecifiedMatching MONDO:0010791 myoglobinuria, recurrent skos:exactMatch MEDGEN:333201 semapv:UnspecifiedMatching MONDO:0010791 myoglobinuria, recurrent skos:exactMatch OMIM:550500 myoglobinuria, recurrent semapv:UnspecifiedMatching MONDO:0010791 myoglobinuria, recurrent skos:exactMatch UMLS:C1838877 semapv:UnspecifiedMatching MONDO:0010791 myoglobinuria, recurrent skos:exactMatch mesh:C564018 semapv:UnspecifiedMatching MONDO:0010792 lethal infantile mitochondrial myopathy skos:exactMatch MEDGEN:374077 semapv:UnspecifiedMatching MONDO:0010792 lethal infantile mitochondrial myopathy skos:exactMatch OMIM:551000 mitochondrial myopathy, lethal, infantile semapv:UnspecifiedMatching MONDO:0010792 lethal infantile mitochondrial myopathy skos:exactMatch Orphanet:254857 Lethal infantile mitochondrial myopathy semapv:UnspecifiedMatching MONDO:0010792 lethal infantile mitochondrial myopathy skos:exactMatch SCTID:766251006 semapv:UnspecifiedMatching MONDO:0010792 lethal infantile mitochondrial myopathy skos:exactMatch UMLS:C1838876 semapv:UnspecifiedMatching MONDO:0010792 lethal infantile mitochondrial myopathy skos:exactMatch icd11.foundation:642272262 Lethal infantile mitochondrial myopathy semapv:UnspecifiedMatching MONDO:0010792 lethal infantile mitochondrial myopathy skos:exactMatch mesh:C564017 semapv:UnspecifiedMatching MONDO:0010793 nephropathy, chronic tubulointerstitial skos:exactMatch MEDGEN:333200 semapv:UnspecifiedMatching MONDO:0010793 nephropathy, chronic tubulointerstitial skos:exactMatch OMIM:551200 nephropathy, chronic tubulointerstitial semapv:UnspecifiedMatching MONDO:0010793 nephropathy, chronic tubulointerstitial skos:exactMatch UMLS:C1838875 semapv:UnspecifiedMatching MONDO:0010793 nephropathy, chronic tubulointerstitial skos:exactMatch mesh:C564016 semapv:UnspecifiedMatching MONDO:0010794 NARP syndrome skos:exactMatch DOID:0111273 NARP syndrome semapv:UnspecifiedMatching MONDO:0010794 NARP syndrome skos:exactMatch MEDGEN:231285 semapv:UnspecifiedMatching MONDO:0010794 NARP syndrome skos:exactMatch OMIM:551500 neuropathy, ataxia, and retinitis pigmentosa semapv:UnspecifiedMatching MONDO:0010794 NARP syndrome skos:exactMatch Orphanet:644 NARP syndrome semapv:UnspecifiedMatching MONDO:0010794 NARP syndrome skos:exactMatch UMLS:C1328349 semapv:UnspecifiedMatching MONDO:0010794 NARP syndrome skos:exactMatch icd11.foundation:2089784682 Neuropathy, ataxia, and retinitis pigmentosa semapv:UnspecifiedMatching MONDO:0010794 NARP syndrome skos:exactMatch mesh:C537396 semapv:UnspecifiedMatching MONDO:0010795 oncocytic neoplasm skos:exactMatch MEDGEN:237181 semapv:UnspecifiedMatching MONDO:0010795 oncocytic neoplasm skos:exactMatch NCIT:C7072 Oncocytic Neoplasm semapv:UnspecifiedMatching MONDO:0010795 oncocytic neoplasm skos:exactMatch OMIM:553000 oncocytoma semapv:UnspecifiedMatching MONDO:0010795 oncocytic neoplasm skos:exactMatch UMLS:C1378050 semapv:UnspecifiedMatching MONDO:0010796 Parkinson disease, mitochondrial skos:exactMatch MEDGEN:333199 semapv:UnspecifiedMatching MONDO:0010796 Parkinson disease, mitochondrial skos:exactMatch OMIM:556500 parkinson disease, mitochondrial semapv:UnspecifiedMatching MONDO:0010796 Parkinson disease, mitochondrial skos:exactMatch UMLS:C1838867 semapv:UnspecifiedMatching MONDO:0010796 Parkinson disease, mitochondrial skos:exactMatch mesh:C564015 semapv:UnspecifiedMatching MONDO:0010797 Pearson syndrome skos:exactMatch DOID:0060067 Pearson syndrome semapv:UnspecifiedMatching MONDO:0010797 Pearson syndrome skos:exactMatch MEDGEN:87459 semapv:UnspecifiedMatching MONDO:0010797 Pearson syndrome skos:exactMatch NCIT:C115326 Pearson Syndrome semapv:UnspecifiedMatching MONDO:0010797 Pearson syndrome skos:exactMatch OMIM:557000 pearson marrow-pancreas syndrome semapv:UnspecifiedMatching MONDO:0010797 Pearson syndrome skos:exactMatch Orphanet:699 Pearson syndrome semapv:UnspecifiedMatching MONDO:0010797 Pearson syndrome skos:exactMatch SCTID:237985009 semapv:UnspecifiedMatching MONDO:0010797 Pearson syndrome skos:exactMatch UMLS:C0342784 semapv:UnspecifiedMatching MONDO:0010797 Pearson syndrome skos:exactMatch icd11.foundation:452521132 Pearson syndrome semapv:UnspecifiedMatching MONDO:0010798 proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome skos:exactMatch MEDGEN:463309 semapv:UnspecifiedMatching MONDO:0010798 proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome skos:exactMatch OMIM:560000 renal tubulopathy, diabetes mellitus, and cerebellar ataxia semapv:UnspecifiedMatching MONDO:0010798 proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome skos:exactMatch UMLS:C3151959 semapv:UnspecifiedMatching MONDO:0010798 proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome skos:exactMatch mesh:C564014 semapv:UnspecifiedMatching MONDO:0010799 deafness, aminoglycoside-induced skos:exactMatch DOID:0111734 aminoglycoside-induced deafness semapv:UnspecifiedMatching MONDO:0010799 deafness, aminoglycoside-induced skos:exactMatch MEDGEN:374074 semapv:UnspecifiedMatching MONDO:0010799 deafness, aminoglycoside-induced skos:exactMatch OMIM:580000 deafness, aminoglycoside-induced semapv:UnspecifiedMatching MONDO:0010799 deafness, aminoglycoside-induced skos:exactMatch UMLS:C1838854 semapv:UnspecifiedMatching MONDO:0010799 deafness, aminoglycoside-induced skos:exactMatch mesh:C564013 semapv:UnspecifiedMatching MONDO:0010800 Wolfram syndrome, mitochondrial form skos:exactMatch DOID:0080583 Wolfram syndrome, mitochondrial form semapv:UnspecifiedMatching MONDO:0010800 Wolfram syndrome, mitochondrial form skos:exactMatch MEDGEN:325511 semapv:UnspecifiedMatching MONDO:0010800 Wolfram syndrome, mitochondrial form skos:exactMatch OMIM:598500 wolfram syndrome, mitochondrial form semapv:UnspecifiedMatching MONDO:0010800 Wolfram syndrome, mitochondrial form skos:exactMatch UMLS:C1838782 semapv:UnspecifiedMatching MONDO:0010800 Wolfram syndrome, mitochondrial form skos:exactMatch mesh:C564012 semapv:UnspecifiedMatching MONDO:0010801 spondylocamptodactyly syndrome skos:exactMatch MEDGEN:325510 semapv:UnspecifiedMatching MONDO:0010801 spondylocamptodactyly syndrome skos:exactMatch OMIM:600000 spondylocamptodactyly semapv:UnspecifiedMatching MONDO:0010801 spondylocamptodactyly syndrome skos:exactMatch Orphanet:3180 Spondylocamptodactyly syndrome semapv:UnspecifiedMatching MONDO:0010801 spondylocamptodactyly syndrome skos:exactMatch SCTID:716231009 semapv:UnspecifiedMatching MONDO:0010801 spondylocamptodactyly syndrome skos:exactMatch UMLS:C1838781 semapv:UnspecifiedMatching MONDO:0010801 spondylocamptodactyly syndrome skos:exactMatch mesh:C535779 semapv:UnspecifiedMatching MONDO:0010802 pancreatic hypoplasia-diabetes-congenital heart disease syndrome skos:exactMatch DOID:0111733 pancreatic hypoplasia-diabetes-congenital heart disease syndrome semapv:UnspecifiedMatching MONDO:0010802 pancreatic hypoplasia-diabetes-congenital heart disease syndrome skos:exactMatch MEDGEN:444022 semapv:UnspecifiedMatching MONDO:0010802 pancreatic hypoplasia-diabetes-congenital heart disease syndrome skos:exactMatch OMIM:600001 heart defects, congenital, and other congenital anomalies semapv:UnspecifiedMatching MONDO:0010802 pancreatic hypoplasia-diabetes-congenital heart disease syndrome skos:exactMatch Orphanet:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome semapv:UnspecifiedMatching MONDO:0010802 pancreatic hypoplasia-diabetes-congenital heart disease syndrome skos:exactMatch SCTID:722206009 semapv:UnspecifiedMatching MONDO:0010802 pancreatic hypoplasia-diabetes-congenital heart disease syndrome skos:exactMatch UMLS:C2931296 semapv:UnspecifiedMatching MONDO:0010802 pancreatic hypoplasia-diabetes-congenital heart disease syndrome skos:exactMatch mesh:C564011 semapv:UnspecifiedMatching MONDO:0010803 Eiken syndrome skos:exactMatch DOID:0111732 Eiken syndrome semapv:UnspecifiedMatching MONDO:0010803 Eiken syndrome skos:exactMatch MEDGEN:325097 semapv:UnspecifiedMatching MONDO:0010803 Eiken syndrome skos:exactMatch OMIM:600002 eiken syndrome semapv:UnspecifiedMatching MONDO:0010803 Eiken syndrome skos:exactMatch Orphanet:79106 Eiken syndrome semapv:UnspecifiedMatching MONDO:0010803 Eiken syndrome skos:exactMatch SCTID:720863002 semapv:UnspecifiedMatching MONDO:0010803 Eiken syndrome skos:exactMatch UMLS:C1838779 semapv:UnspecifiedMatching MONDO:0010803 Eiken syndrome skos:exactMatch icd11.foundation:467339994 Eiken syndrome semapv:UnspecifiedMatching MONDO:0010803 Eiken syndrome skos:exactMatch mesh:C564010 semapv:UnspecifiedMatching MONDO:0010804 obsolete BRCATA skos:exactMatch OMIM:600048 semapv:UnspecifiedMatching MONDO:0010805 bladder exstrophy skos:exactMatch DOID:0080174 bladder exstrophy semapv:UnspecifiedMatching MONDO:0010805 bladder exstrophy skos:exactMatch MEDGEN:2661 semapv:UnspecifiedMatching MONDO:0010805 bladder exstrophy skos:exactMatch NCIT:C123207 Bladder Exstrophy semapv:UnspecifiedMatching MONDO:0010805 bladder exstrophy skos:exactMatch Orphanet:93930 Classic bladder exstrophy semapv:UnspecifiedMatching MONDO:0010805 bladder exstrophy skos:exactMatch SCTID:61758007 semapv:UnspecifiedMatching MONDO:0010805 bladder exstrophy skos:exactMatch UMLS:C0005689 semapv:UnspecifiedMatching MONDO:0010805 bladder exstrophy skos:exactMatch icd11.foundation:1927556258 Exstrophy of urinary bladder semapv:UnspecifiedMatching MONDO:0010805 bladder exstrophy skos:exactMatch mesh:D001746 semapv:UnspecifiedMatching MONDO:0010806 retinitis pigmentosa 13 skos:exactMatch DOID:0110403 retinitis pigmentosa 13 semapv:UnspecifiedMatching MONDO:0010806 retinitis pigmentosa 13 skos:exactMatch MEDGEN:325486 semapv:UnspecifiedMatching MONDO:0010806 retinitis pigmentosa 13 skos:exactMatch OMIM:600059 retinitis pigmentosa 13 semapv:UnspecifiedMatching MONDO:0010806 retinitis pigmentosa 13 skos:exactMatch UMLS:C1838702 semapv:UnspecifiedMatching MONDO:0010806 retinitis pigmentosa 13 skos:exactMatch mesh:C564008 semapv:UnspecifiedMatching MONDO:0010807 autosomal recessive nonsyndromic hearing loss 2 skos:exactMatch DOID:0110477 autosomal recessive nonsyndromic deafness 2 semapv:UnspecifiedMatching MONDO:0010807 autosomal recessive nonsyndromic hearing loss 2 skos:exactMatch MEDGEN:325485 semapv:UnspecifiedMatching MONDO:0010807 autosomal recessive nonsyndromic hearing loss 2 skos:exactMatch OMIM:600060 deafness, autosomal recessive 2 semapv:UnspecifiedMatching MONDO:0010807 autosomal recessive nonsyndromic hearing loss 2 skos:exactMatch UMLS:C1838701 semapv:UnspecifiedMatching MONDO:0010807 autosomal recessive nonsyndromic hearing loss 2 skos:exactMatch mesh:C564007 semapv:UnspecifiedMatching MONDO:0010808 fatal familial insomnia skos:exactMatch DOID:0050433 fatal familial insomnia semapv:UnspecifiedMatching MONDO:0010808 fatal familial insomnia skos:exactMatch ICD10CM:A81.83 Fatal familial insomnia semapv:UnspecifiedMatching MONDO:0010808 fatal familial insomnia skos:exactMatch MEDGEN:104768 semapv:UnspecifiedMatching MONDO:0010808 fatal familial insomnia skos:exactMatch NCIT:C84711 Fatal Familial Insomnia semapv:UnspecifiedMatching MONDO:0010808 fatal familial insomnia skos:exactMatch OMIM:600072 fatal familial insomnia semapv:UnspecifiedMatching MONDO:0010808 fatal familial insomnia skos:exactMatch Orphanet:466 Fatal familial insomnia semapv:UnspecifiedMatching MONDO:0010808 fatal familial insomnia skos:exactMatch SCTID:83157008 semapv:UnspecifiedMatching MONDO:0010808 fatal familial insomnia skos:exactMatch UMLS:C0206042 semapv:UnspecifiedMatching MONDO:0010808 fatal familial insomnia skos:exactMatch icd11.foundation:669154658 Fatal familial insomnia semapv:UnspecifiedMatching MONDO:0010808 fatal familial insomnia skos:exactMatch mesh:D034062 semapv:UnspecifiedMatching MONDO:0010809 familial chronic myelocytic leukemia-like syndrome skos:exactMatch DOID:0060761 familial chronic myelocytic leukemia-like syndrome semapv:UnspecifiedMatching MONDO:0010809 familial chronic myelocytic leukemia-like syndrome skos:exactMatch MEDGEN:325075 semapv:UnspecifiedMatching MONDO:0010809 familial chronic myelocytic leukemia-like syndrome skos:exactMatch OMIM:600080 myelocytic leukemia-like syndrome, familial, chronic semapv:UnspecifiedMatching MONDO:0010809 familial chronic myelocytic leukemia-like syndrome skos:exactMatch UMLS:C1838670 semapv:UnspecifiedMatching MONDO:0010809 familial chronic myelocytic leukemia-like syndrome skos:exactMatch mesh:C536093 semapv:UnspecifiedMatching MONDO:0010810 vitamin D hydroxylation-deficient rickets, type 1B skos:exactMatch DOID:0080887 vitamin D-dependent rickets type 1B semapv:UnspecifiedMatching MONDO:0010810 vitamin D hydroxylation-deficient rickets, type 1B skos:exactMatch MEDGEN:374020 semapv:UnspecifiedMatching MONDO:0010810 vitamin D hydroxylation-deficient rickets, type 1B skos:exactMatch NCIT:C131074 Vitamin D 25-Hydroxylase Deficiency semapv:UnspecifiedMatching MONDO:0010810 vitamin D hydroxylation-deficient rickets, type 1B skos:exactMatch OMIM:600081 vitamin d hydroxylation-deficient rickets, type 1b semapv:UnspecifiedMatching MONDO:0010810 vitamin D hydroxylation-deficient rickets, type 1B skos:exactMatch UMLS:C1838657 semapv:UnspecifiedMatching MONDO:0010810 vitamin D hydroxylation-deficient rickets, type 1B skos:exactMatch mesh:C564005 semapv:UnspecifiedMatching MONDO:0010811 benign prostatic hyperplasia skos:exactMatch DOID:11132 prostatic hypertrophy semapv:UnspecifiedMatching MONDO:0010811 benign prostatic hyperplasia skos:exactMatch EFO:0000284 semapv:UnspecifiedMatching MONDO:0010811 benign prostatic hyperplasia skos:exactMatch ICD10CM:N40 Benign prostatic hyperplasia semapv:UnspecifiedMatching MONDO:0010811 benign prostatic hyperplasia skos:exactMatch MEDGEN:312369 semapv:UnspecifiedMatching MONDO:0010811 benign prostatic hyperplasia skos:exactMatch NCIT:C2897 Benign Prostatic Hyperplasia semapv:UnspecifiedMatching MONDO:0010811 benign prostatic hyperplasia skos:exactMatch OMIM:600082 prostatic hyperplasia, benign semapv:UnspecifiedMatching MONDO:0010811 benign prostatic hyperplasia skos:exactMatch SCTID:266569009 semapv:UnspecifiedMatching MONDO:0010811 benign prostatic hyperplasia skos:exactMatch UMLS:C1704272 semapv:UnspecifiedMatching MONDO:0010811 benign prostatic hyperplasia skos:exactMatch mesh:D011470 semapv:UnspecifiedMatching MONDO:0010812 macrocytosis, familial skos:exactMatch MEDGEN:333150 semapv:UnspecifiedMatching MONDO:0010812 macrocytosis, familial skos:exactMatch OMIM:600084 macrocytosis, familial semapv:UnspecifiedMatching MONDO:0010812 macrocytosis, familial skos:exactMatch UMLS:C1838656 semapv:UnspecifiedMatching MONDO:0010812 macrocytosis, familial skos:exactMatch mesh:C564004 semapv:UnspecifiedMatching MONDO:0010813 pancreatic beta cell agenesis with neonatal diabetes mellitus skos:exactMatch MEDGEN:325072 semapv:UnspecifiedMatching MONDO:0010813 pancreatic beta cell agenesis with neonatal diabetes mellitus skos:exactMatch OMIM:600089 pancreatic beta cell agenesis with neonatal diabetes mellitus semapv:UnspecifiedMatching MONDO:0010813 pancreatic beta cell agenesis with neonatal diabetes mellitus skos:exactMatch UMLS:C1838655 semapv:UnspecifiedMatching MONDO:0010813 pancreatic beta cell agenesis with neonatal diabetes mellitus skos:exactMatch mesh:C538111 semapv:UnspecifiedMatching MONDO:0010814 chondrodysplasia-pseudohermaphroditism syndrome skos:exactMatch DOID:0060644 chondrodysplasia-pseudohermaphroditism syndrome semapv:UnspecifiedMatching MONDO:0010814 chondrodysplasia-pseudohermaphroditism syndrome skos:exactMatch MEDGEN:333149 semapv:UnspecifiedMatching MONDO:0010814 chondrodysplasia-pseudohermaphroditism syndrome skos:exactMatch OMIM:600092 nivelon-nivelon-mabille syndrome semapv:UnspecifiedMatching MONDO:0010814 chondrodysplasia-pseudohermaphroditism syndrome skos:exactMatch Orphanet:1422 Chondrodysplasia-difference of sex development syndrome semapv:UnspecifiedMatching MONDO:0010814 chondrodysplasia-pseudohermaphroditism syndrome skos:exactMatch SCTID:720851007 semapv:UnspecifiedMatching MONDO:0010814 chondrodysplasia-pseudohermaphroditism syndrome skos:exactMatch UMLS:C1838654 semapv:UnspecifiedMatching MONDO:0010814 chondrodysplasia-pseudohermaphroditism syndrome skos:exactMatch mesh:C536123 semapv:UnspecifiedMatching MONDO:0010815 spondyloepiphyseal dysplasia tarda with characteristic facies skos:exactMatch DOID:0112289 spondyloepiphyseal dysplasia tarda with characteristic facies semapv:UnspecifiedMatching MONDO:0010815 spondyloepiphyseal dysplasia tarda with characteristic facies skos:exactMatch MEDGEN:325071 semapv:UnspecifiedMatching MONDO:0010815 spondyloepiphyseal dysplasia tarda with characteristic facies skos:exactMatch OMIM:600093 spondyloepiphyseal dysplasia tarda with characteristic facies semapv:UnspecifiedMatching MONDO:0010815 spondyloepiphyseal dysplasia tarda with characteristic facies skos:exactMatch UMLS:C1838653 semapv:UnspecifiedMatching MONDO:0010815 spondyloepiphyseal dysplasia tarda with characteristic facies skos:exactMatch mesh:C564003 semapv:UnspecifiedMatching MONDO:0010816 Qazi Markouizos syndrome skos:exactMatch DOID:0050740 Qazi Markouizos syndrome semapv:UnspecifiedMatching MONDO:0010816 Qazi Markouizos syndrome skos:exactMatch MEDGEN:443987 semapv:UnspecifiedMatching MONDO:0010816 Qazi Markouizos syndrome skos:exactMatch OMIM:600096 puerto rican infant hypotonia syndrome semapv:UnspecifiedMatching MONDO:0010816 Qazi Markouizos syndrome skos:exactMatch Orphanet:3010 Qazi-Markouizos syndrome semapv:UnspecifiedMatching MONDO:0010816 Qazi Markouizos syndrome skos:exactMatch SCTID:721887007 semapv:UnspecifiedMatching MONDO:0010816 Qazi Markouizos syndrome skos:exactMatch UMLS:C2931142 semapv:UnspecifiedMatching MONDO:0010816 Qazi Markouizos syndrome skos:exactMatch mesh:C536259 semapv:UnspecifiedMatching MONDO:0010817 autosomal dominant nonsyndromic hearing loss 2A skos:exactMatch DOID:0110558 autosomal dominant nonsyndromic deafness 2A semapv:UnspecifiedMatching MONDO:0010817 autosomal dominant nonsyndromic hearing loss 2A skos:exactMatch MEDGEN:436997 semapv:UnspecifiedMatching MONDO:0010817 autosomal dominant nonsyndromic hearing loss 2A skos:exactMatch OMIM:600101 deafness, autosomal dominant 2a semapv:UnspecifiedMatching MONDO:0010817 autosomal dominant nonsyndromic hearing loss 2A skos:exactMatch UMLS:C2677637 semapv:UnspecifiedMatching MONDO:0010817 autosomal dominant nonsyndromic hearing loss 2A skos:exactMatch mesh:C567441 semapv:UnspecifiedMatching MONDO:0010818 retinitis pigmentosa 12 skos:exactMatch DOID:0110358 retinitis pigmentosa 12 semapv:UnspecifiedMatching MONDO:0010818 retinitis pigmentosa 12 skos:exactMatch MEDGEN:374019 semapv:UnspecifiedMatching MONDO:0010818 retinitis pigmentosa 12 skos:exactMatch OMIM:600105 retinitis pigmentosa 12 semapv:UnspecifiedMatching MONDO:0010818 retinitis pigmentosa 12 skos:exactMatch UMLS:C1838647 semapv:UnspecifiedMatching MONDO:0010818 retinitis pigmentosa 12 skos:exactMatch mesh:C563999 semapv:UnspecifiedMatching MONDO:0010819 Stargardt disease 3 skos:exactMatch DOID:0061238 semapv:UnspecifiedMatching MONDO:0010819 Stargardt disease 3 skos:exactMatch MEDGEN:333146 semapv:UnspecifiedMatching MONDO:0010819 Stargardt disease 3 skos:exactMatch OMIM:600110 stargardt disease 3 semapv:UnspecifiedMatching MONDO:0010819 Stargardt disease 3 skos:exactMatch UMLS:C1838644 semapv:UnspecifiedMatching MONDO:0010819 Stargardt disease 3 skos:exactMatch mesh:C535805 semapv:UnspecifiedMatching MONDO:0010820 autosomal recessive juvenile Parkinson disease 2 skos:exactMatch DOID:0060368 Parkinson's disease 2 semapv:UnspecifiedMatching MONDO:0010820 autosomal recessive juvenile Parkinson disease 2 skos:exactMatch MEDGEN:401500 semapv:UnspecifiedMatching MONDO:0010820 autosomal recessive juvenile Parkinson disease 2 skos:exactMatch OMIM:600116 parkinson disease 2, autosomal recessive juvenile semapv:UnspecifiedMatching MONDO:0010820 autosomal recessive juvenile Parkinson disease 2 skos:exactMatch UMLS:C1868675 semapv:UnspecifiedMatching MONDO:0010821 familial developmental dysphasia skos:exactMatch MEDGEN:374015 semapv:UnspecifiedMatching MONDO:0010821 familial developmental dysphasia skos:exactMatch OMIM:600117 dysphasia, familial developmental semapv:UnspecifiedMatching MONDO:0010821 familial developmental dysphasia skos:exactMatch Orphanet:1799 Familial developmental dysphasia semapv:UnspecifiedMatching MONDO:0010821 familial developmental dysphasia skos:exactMatch SCTID:721220004 semapv:UnspecifiedMatching MONDO:0010821 familial developmental dysphasia skos:exactMatch UMLS:C1838630 semapv:UnspecifiedMatching MONDO:0010821 familial developmental dysphasia skos:exactMatch mesh:C563997 semapv:UnspecifiedMatching MONDO:0010822 Warburg micro syndrome 1 skos:exactMatch DOID:0110716 Warburg micro syndrome 1 semapv:UnspecifiedMatching MONDO:0010822 Warburg micro syndrome 1 skos:exactMatch MEDGEN:333142 semapv:UnspecifiedMatching MONDO:0010822 Warburg micro syndrome 1 skos:exactMatch OMIM:600118 warburg micro syndrome 1 semapv:UnspecifiedMatching MONDO:0010822 Warburg micro syndrome 1 skos:exactMatch UMLS:C1838625 semapv:UnspecifiedMatching MONDO:0010823 rhizomelic chondrodysplasia punctata type 3 skos:exactMatch DOID:0110853 rhizomelic chondrodysplasia punctata type 3 semapv:UnspecifiedMatching MONDO:0010823 rhizomelic chondrodysplasia punctata type 3 skos:exactMatch MEDGEN:374012 semapv:UnspecifiedMatching MONDO:0010823 rhizomelic chondrodysplasia punctata type 3 skos:exactMatch OMIM:600121 rhizomelic chondrodysplasia punctata, type 3 semapv:UnspecifiedMatching MONDO:0010823 rhizomelic chondrodysplasia punctata type 3 skos:exactMatch Orphanet:309803 Rhizomelic chondrodysplasia punctata type 3 semapv:UnspecifiedMatching MONDO:0010823 rhizomelic chondrodysplasia punctata type 3 skos:exactMatch UMLS:C1838612 semapv:UnspecifiedMatching MONDO:0010823 rhizomelic chondrodysplasia punctata type 3 skos:exactMatch icd11.foundation:110878063 Rhizomelic chondrodysplasia punctata type 3 semapv:UnspecifiedMatching MONDO:0010823 rhizomelic chondrodysplasia punctata type 3 skos:exactMatch mesh:C537608 semapv:UnspecifiedMatching MONDO:0010824 disorder of sex development-intellectual disability syndrome skos:exactMatch MEDGEN:325469 semapv:UnspecifiedMatching MONDO:0010824 disorder of sex development-intellectual disability syndrome skos:exactMatch OMIM:600122 verloes syndrome semapv:UnspecifiedMatching MONDO:0010824 disorder of sex development-intellectual disability syndrome skos:exactMatch Orphanet:2983 Difference of sex development-intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0010824 disorder of sex development-intellectual disability syndrome skos:exactMatch SCTID:719450007 semapv:UnspecifiedMatching MONDO:0010824 disorder of sex development-intellectual disability syndrome skos:exactMatch UMLS:C1838611 semapv:UnspecifiedMatching MONDO:0010824 disorder of sex development-intellectual disability syndrome skos:exactMatch mesh:C535693 semapv:UnspecifiedMatching MONDO:0010825 atrioventricular defect-blepharophimosis-radial and anal defect syndrome skos:exactMatch MEDGEN:374010 semapv:UnspecifiedMatching MONDO:0010825 atrioventricular defect-blepharophimosis-radial and anal defect syndrome skos:exactMatch OMIM:600123 atrioventricular septal defect with blepharophimosis and anal and radial defects semapv:UnspecifiedMatching MONDO:0010825 atrioventricular defect-blepharophimosis-radial and anal defect syndrome skos:exactMatch Orphanet:1352 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome semapv:UnspecifiedMatching MONDO:0010825 atrioventricular defect-blepharophimosis-radial and anal defect syndrome skos:exactMatch UMLS:C1838606 semapv:UnspecifiedMatching MONDO:0010825 atrioventricular defect-blepharophimosis-radial and anal defect syndrome skos:exactMatch mesh:C563994 semapv:UnspecifiedMatching MONDO:0010826 childhood absence epilepsy skos:exactMatch DOID:0050708 early onset absence epilepsy semapv:UnspecifiedMatching MONDO:0010826 childhood absence epilepsy skos:exactMatch DOID:1825 childhood absence epilepsy semapv:UnspecifiedMatching MONDO:0010826 childhood absence epilepsy skos:exactMatch MEDGEN:924120 semapv:UnspecifiedMatching MONDO:0010826 childhood absence epilepsy skos:exactMatch OMIMPS:600131 Epilepsy, childhood absence semapv:UnspecifiedMatching MONDO:0010826 childhood absence epilepsy skos:exactMatch Orphanet:64280 Childhood absence epilepsy semapv:UnspecifiedMatching MONDO:0010826 childhood absence epilepsy skos:exactMatch SCTID:50866000 semapv:UnspecifiedMatching MONDO:0010826 childhood absence epilepsy skos:exactMatch UMLS:C4281785 semapv:UnspecifiedMatching MONDO:0010826 childhood absence epilepsy skos:exactMatch icd11.foundation:726403046 Childhood absence epilepsy semapv:UnspecifiedMatching MONDO:0010827 retinitis pigmentosa 14 skos:exactMatch DOID:0110381 retinitis pigmentosa 14 semapv:UnspecifiedMatching MONDO:0010827 retinitis pigmentosa 14 skos:exactMatch MEDGEN:325056 semapv:UnspecifiedMatching MONDO:0010827 retinitis pigmentosa 14 skos:exactMatch OMIM:600132 retinitis pigmentosa 14 semapv:UnspecifiedMatching MONDO:0010827 retinitis pigmentosa 14 skos:exactMatch UMLS:C1838603 semapv:UnspecifiedMatching MONDO:0010828 retinitis pigmentosa 11 skos:exactMatch DOID:0110408 retinitis pigmentosa 11 semapv:UnspecifiedMatching MONDO:0010828 retinitis pigmentosa 11 skos:exactMatch MEDGEN:325055 semapv:UnspecifiedMatching MONDO:0010828 retinitis pigmentosa 11 skos:exactMatch OMIM:600138 retinitis pigmentosa 11 semapv:UnspecifiedMatching MONDO:0010828 retinitis pigmentosa 11 skos:exactMatch UMLS:C1838601 semapv:UnspecifiedMatching MONDO:0010828 retinitis pigmentosa 11 skos:exactMatch mesh:C563991 semapv:UnspecifiedMatching MONDO:0010829 CARASIL syndrome skos:exactMatch DOID:0061228 semapv:UnspecifiedMatching MONDO:0010829 CARASIL syndrome skos:exactMatch MEDGEN:325051 semapv:UnspecifiedMatching MONDO:0010829 CARASIL syndrome skos:exactMatch OMIM:600142 cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 2 semapv:UnspecifiedMatching MONDO:0010829 CARASIL syndrome skos:exactMatch Orphanet:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy semapv:UnspecifiedMatching MONDO:0010829 CARASIL syndrome skos:exactMatch SCTID:703219008 semapv:UnspecifiedMatching MONDO:0010829 CARASIL syndrome skos:exactMatch UMLS:C1838577 semapv:UnspecifiedMatching MONDO:0010829 CARASIL syndrome skos:exactMatch icd11.foundation:984450655 CARASIL - [cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy] syndrome semapv:UnspecifiedMatching MONDO:0010829 CARASIL syndrome skos:exactMatch mesh:C563990 semapv:UnspecifiedMatching MONDO:0010830 neuronal ceroid lipofuscinosis 8 skos:exactMatch DOID:0110723 neuronal ceroid lipofuscinosis 8 semapv:UnspecifiedMatching MONDO:0010830 neuronal ceroid lipofuscinosis 8 skos:exactMatch MEDGEN:374004 semapv:UnspecifiedMatching MONDO:0010830 neuronal ceroid lipofuscinosis 8 skos:exactMatch OMIM:600143 ceroid lipofuscinosis, neuronal, 8 semapv:UnspecifiedMatching MONDO:0010830 neuronal ceroid lipofuscinosis 8 skos:exactMatch Orphanet:228354 CLN8 disease semapv:UnspecifiedMatching MONDO:0010830 neuronal ceroid lipofuscinosis 8 skos:exactMatch SCTID:703526007 semapv:UnspecifiedMatching MONDO:0010830 neuronal ceroid lipofuscinosis 8 skos:exactMatch UMLS:C1838570 semapv:UnspecifiedMatching MONDO:0010830 neuronal ceroid lipofuscinosis 8 skos:exactMatch mesh:C537952 semapv:UnspecifiedMatching MONDO:0010831 familial caudal dysgenesis skos:exactMatch MEDGEN:418973 semapv:UnspecifiedMatching MONDO:0010831 familial caudal dysgenesis skos:exactMatch NCIT:C99054 Sacral Agenesis semapv:UnspecifiedMatching MONDO:0010831 familial caudal dysgenesis skos:exactMatch OMIM:600145 sacral defect with anterior meningocele semapv:UnspecifiedMatching MONDO:0010831 familial caudal dysgenesis skos:exactMatch Orphanet:1768 Familial caudal dysgenesis semapv:UnspecifiedMatching MONDO:0010831 familial caudal dysgenesis skos:exactMatch SCTID:722493007 semapv:UnspecifiedMatching MONDO:0010831 familial caudal dysgenesis skos:exactMatch UMLS:C2931053 semapv:UnspecifiedMatching MONDO:0010832 Bardet-Biedl syndrome 3 skos:exactMatch DOID:0110125 Bardet-Biedl syndrome 3 semapv:UnspecifiedMatching MONDO:0010832 Bardet-Biedl syndrome 3 skos:exactMatch MEDGEN:347179 semapv:UnspecifiedMatching MONDO:0010832 Bardet-Biedl syndrome 3 skos:exactMatch OMIM:600151 bardet-biedl syndrome 3 semapv:UnspecifiedMatching MONDO:0010832 Bardet-Biedl syndrome 3 skos:exactMatch UMLS:C1859564 semapv:UnspecifiedMatching MONDO:0010832 Bardet-Biedl syndrome 3 skos:exactMatch mesh:C537911 semapv:UnspecifiedMatching MONDO:0010833 Hirschsprung disease, susceptibility to, 2 skos:exactMatch MEDGEN:374002 semapv:UnspecifiedMatching MONDO:0010833 Hirschsprung disease, susceptibility to, 2 skos:exactMatch OMIM:600155 hirschsprung disease, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0010833 Hirschsprung disease, susceptibility to, 2 skos:exactMatch UMLS:C1838564 semapv:UnspecifiedMatching MONDO:0010834 Hirschsprung disease, susceptibility to, 5 skos:exactMatch MEDGEN:410137 semapv:UnspecifiedMatching MONDO:0010834 Hirschsprung disease, susceptibility to, 5 skos:exactMatch OMIM:600156 hirschsprung disease, susceptibility to, 5 semapv:UnspecifiedMatching MONDO:0010834 Hirschsprung disease, susceptibility to, 5 skos:exactMatch UMLS:C1970723 semapv:UnspecifiedMatching MONDO:0010835 pterygium colli-intellectual disability-digital anomalies syndrome skos:exactMatch MEDGEN:374001 semapv:UnspecifiedMatching MONDO:0010835 pterygium colli-intellectual disability-digital anomalies syndrome skos:exactMatch OMIM:600159 pterygium colli and impaired intellectual development with facial and digital anomalies semapv:UnspecifiedMatching MONDO:0010835 pterygium colli-intellectual disability-digital anomalies syndrome skos:exactMatch Orphanet:2988 Pterygium colli-intellectual disability-digital anomalies syndrome semapv:UnspecifiedMatching MONDO:0010835 pterygium colli-intellectual disability-digital anomalies syndrome skos:exactMatch SCTID:719256004 semapv:UnspecifiedMatching MONDO:0010835 pterygium colli-intellectual disability-digital anomalies syndrome skos:exactMatch UMLS:C1838562 semapv:UnspecifiedMatching MONDO:0010835 pterygium colli-intellectual disability-digital anomalies syndrome skos:exactMatch mesh:C535831 semapv:UnspecifiedMatching MONDO:0010836 nanophthalmos 1 skos:exactMatch MEDGEN:325037 semapv:UnspecifiedMatching MONDO:0010836 nanophthalmos 1 skos:exactMatch OMIM:600165 nanophthalmos 1 semapv:UnspecifiedMatching MONDO:0010836 nanophthalmos 1 skos:exactMatch UMLS:C1838502 semapv:UnspecifiedMatching MONDO:0010836 nanophthalmos 1 skos:exactMatch mesh:C563983 semapv:UnspecifiedMatching MONDO:0010837 primary hyperparathyroidism skos:exactMatch DOID:11202 primary hyperparathyroidism semapv:UnspecifiedMatching MONDO:0010837 primary hyperparathyroidism skos:exactMatch EFO:0008519 semapv:UnspecifiedMatching MONDO:0010837 primary hyperparathyroidism skos:exactMatch ICD10CM:E21.0 Primary hyperparathyroidism semapv:UnspecifiedMatching MONDO:0010837 primary hyperparathyroidism skos:exactMatch MEDGEN:66354 semapv:UnspecifiedMatching MONDO:0010837 primary hyperparathyroidism skos:exactMatch NCIT:C48280 Primary Hyperparathyroidism semapv:UnspecifiedMatching MONDO:0010837 primary hyperparathyroidism skos:exactMatch SCTID:36348003 semapv:UnspecifiedMatching MONDO:0010837 primary hyperparathyroidism skos:exactMatch UMLS:C0221002 semapv:UnspecifiedMatching MONDO:0010837 primary hyperparathyroidism skos:exactMatch icd11.foundation:817194045 Primary hyperparathyroidism semapv:UnspecifiedMatching MONDO:0010837 primary hyperparathyroidism skos:exactMatch mesh:D049950 semapv:UnspecifiedMatching MONDO:0010838 gonadal agenesis skos:exactMatch MEDGEN:181797 semapv:UnspecifiedMatching MONDO:0010838 gonadal agenesis skos:exactMatch NCIT:C27228 Gonadal Agenesis semapv:UnspecifiedMatching MONDO:0010838 gonadal agenesis skos:exactMatch OMIM:600171 gonadal agenesis semapv:UnspecifiedMatching MONDO:0010838 gonadal agenesis skos:exactMatch UMLS:C0949331 semapv:UnspecifiedMatching MONDO:0010839 neuronopathy, distal hereditary motor, autosomal dominant 8 skos:exactMatch DOID:0111215 autosomal dominant distal hereditary motor neuronopathy 8 semapv:UnspecifiedMatching MONDO:0010839 neuronopathy, distal hereditary motor, autosomal dominant 8 skos:exactMatch MEDGEN:373984 semapv:UnspecifiedMatching MONDO:0010839 neuronopathy, distal hereditary motor, autosomal dominant 8 skos:exactMatch OMIM:600175 neuronopathy, distal hereditary motor, autosomal dominant 8 semapv:UnspecifiedMatching MONDO:0010839 neuronopathy, distal hereditary motor, autosomal dominant 8 skos:exactMatch Orphanet:1216 Autosomal dominant congenital benign spinal muscular atrophy semapv:UnspecifiedMatching MONDO:0010839 neuronopathy, distal hereditary motor, autosomal dominant 8 skos:exactMatch SCTID:763067000 semapv:UnspecifiedMatching MONDO:0010839 neuronopathy, distal hereditary motor, autosomal dominant 8 skos:exactMatch UMLS:C1838492 semapv:UnspecifiedMatching MONDO:0010839 neuronopathy, distal hereditary motor, autosomal dominant 8 skos:exactMatch mesh:C563981 semapv:UnspecifiedMatching MONDO:0010840 pachygyria-intellectual disability-epilepsy syndrome skos:exactMatch MEDGEN:333107 semapv:UnspecifiedMatching MONDO:0010840 pachygyria-intellectual disability-epilepsy syndrome skos:exactMatch OMIM:600176 pachygyria with impaired intellectual development, seizures, and arachnoid cysts semapv:UnspecifiedMatching MONDO:0010840 pachygyria-intellectual disability-epilepsy syndrome skos:exactMatch Orphanet:2798 Pachygyria-intellectual disability-epilepsy syndrome semapv:UnspecifiedMatching MONDO:0010840 pachygyria-intellectual disability-epilepsy syndrome skos:exactMatch SCTID:763861000 semapv:UnspecifiedMatching MONDO:0010840 pachygyria-intellectual disability-epilepsy syndrome skos:exactMatch UMLS:C1838491 semapv:UnspecifiedMatching MONDO:0010840 pachygyria-intellectual disability-epilepsy syndrome skos:exactMatch mesh:C538091 semapv:UnspecifiedMatching MONDO:0010841 Waardenburg syndrome type 2B skos:exactMatch DOID:0110947 Waardenburg syndrome type 2B semapv:UnspecifiedMatching MONDO:0010841 Waardenburg syndrome type 2B skos:exactMatch MEDGEN:373973 semapv:UnspecifiedMatching MONDO:0010841 Waardenburg syndrome type 2B skos:exactMatch OMIM:600193 waardenburg syndrome, type 2b semapv:UnspecifiedMatching MONDO:0010841 Waardenburg syndrome type 2B skos:exactMatch UMLS:C1838447 semapv:UnspecifiedMatching MONDO:0010841 Waardenburg syndrome type 2B skos:exactMatch mesh:C536465 semapv:UnspecifiedMatching MONDO:0010842 multiple cutaneous and mucosal venous malformations skos:exactMatch DOID:0050792 multiple cutaneous and mucosal venous malformations semapv:UnspecifiedMatching MONDO:0010842 multiple cutaneous and mucosal venous malformations skos:exactMatch MEDGEN:325026 semapv:UnspecifiedMatching MONDO:0010842 multiple cutaneous and mucosal venous malformations skos:exactMatch OMIM:600195 venous malformations, multiple cutaneous and mucosal semapv:UnspecifiedMatching MONDO:0010842 multiple cutaneous and mucosal venous malformations skos:exactMatch Orphanet:2451 Mucocutaneous venous malformations semapv:UnspecifiedMatching MONDO:0010842 multiple cutaneous and mucosal venous malformations skos:exactMatch SCTID:699301008 semapv:UnspecifiedMatching MONDO:0010842 multiple cutaneous and mucosal venous malformations skos:exactMatch UMLS:C1838437 semapv:UnspecifiedMatching MONDO:0010842 multiple cutaneous and mucosal venous malformations skos:exactMatch mesh:C563977 semapv:UnspecifiedMatching MONDO:0010843 dyslexia, susceptibility to, 2 skos:exactMatch MEDGEN:325025 semapv:UnspecifiedMatching MONDO:0010843 dyslexia, susceptibility to, 2 skos:exactMatch OMIM:600202 dyslexia, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0010843 dyslexia, susceptibility to, 2 skos:exactMatch UMLS:C1838436 semapv:UnspecifiedMatching MONDO:0010844 epiphyseal dysplasia, multiple, 2 skos:exactMatch DOID:0070298 multiple epiphyseal dysplasia 2 semapv:UnspecifiedMatching MONDO:0010844 epiphyseal dysplasia, multiple, 2 skos:exactMatch MEDGEN:333092 semapv:UnspecifiedMatching MONDO:0010844 epiphyseal dysplasia, multiple, 2 skos:exactMatch OMIM:600204 epiphyseal dysplasia, multiple, 2 semapv:UnspecifiedMatching MONDO:0010844 epiphyseal dysplasia, multiple, 2 skos:exactMatch UMLS:C1838429 semapv:UnspecifiedMatching MONDO:0010844 epiphyseal dysplasia, multiple, 2 skos:exactMatch mesh:C535502 semapv:UnspecifiedMatching MONDO:0010846 exostoses, multiple, type III skos:exactMatch MEDGEN:333090 semapv:UnspecifiedMatching MONDO:0010846 exostoses, multiple, type III skos:exactMatch OMIM:600209 exostoses, multiple, type 3 semapv:UnspecifiedMatching MONDO:0010846 exostoses, multiple, type III skos:exactMatch UMLS:C1838420 semapv:UnspecifiedMatching MONDO:0010846 exostoses, multiple, type III skos:exactMatch mesh:C563975 semapv:UnspecifiedMatching MONDO:0010847 spinocerebellar ataxia type 4 skos:exactMatch DOID:0050957 spinocerebellar ataxia 4 semapv:UnspecifiedMatching MONDO:0010847 spinocerebellar ataxia type 4 skos:exactMatch MEDGEN:199815 semapv:UnspecifiedMatching MONDO:0010847 spinocerebellar ataxia type 4 skos:exactMatch OMIM:600223 spinocerebellar ataxia 4 semapv:UnspecifiedMatching MONDO:0010847 spinocerebellar ataxia type 4 skos:exactMatch Orphanet:98765 Spinocerebellar ataxia type 4 semapv:UnspecifiedMatching MONDO:0010847 spinocerebellar ataxia type 4 skos:exactMatch SCTID:715755008 semapv:UnspecifiedMatching MONDO:0010847 spinocerebellar ataxia type 4 skos:exactMatch UMLS:C0752122 semapv:UnspecifiedMatching MONDO:0010847 spinocerebellar ataxia type 4 skos:exactMatch icd11.foundation:1686006145 Spinocerebellar ataxia type 4 semapv:UnspecifiedMatching MONDO:0010848 spinocerebellar ataxia type 5 skos:exactMatch DOID:0050882 spinocerebellar ataxia 5 semapv:UnspecifiedMatching MONDO:0010848 spinocerebellar ataxia type 5 skos:exactMatch MEDGEN:155705 semapv:UnspecifiedMatching MONDO:0010848 spinocerebellar ataxia type 5 skos:exactMatch OMIM:600224 spinocerebellar ataxia 5 semapv:UnspecifiedMatching MONDO:0010848 spinocerebellar ataxia type 5 skos:exactMatch Orphanet:98766 Spinocerebellar ataxia type 5 semapv:UnspecifiedMatching MONDO:0010848 spinocerebellar ataxia type 5 skos:exactMatch SCTID:719302009 semapv:UnspecifiedMatching MONDO:0010848 spinocerebellar ataxia type 5 skos:exactMatch UMLS:C0752123 semapv:UnspecifiedMatching MONDO:0010848 spinocerebellar ataxia type 5 skos:exactMatch icd11.foundation:78905851 Spinocerebellar ataxia type 5 semapv:UnspecifiedMatching MONDO:0010849 palmoplantar keratoderma, Bothnian type skos:exactMatch DOID:0111707 Bothnian type palmoplantar keratoderma semapv:UnspecifiedMatching MONDO:0010849 palmoplantar keratoderma, Bothnian type skos:exactMatch MEDGEN:325011 semapv:UnspecifiedMatching MONDO:0010849 palmoplantar keratoderma, Bothnian type skos:exactMatch OMIM:600231 palmoplantar keratoderma, bothnian type semapv:UnspecifiedMatching MONDO:0010849 palmoplantar keratoderma, Bothnian type skos:exactMatch Orphanet:2337 Diffuse palmoplantar keratoderma, Bothnian type semapv:UnspecifiedMatching MONDO:0010849 palmoplantar keratoderma, Bothnian type skos:exactMatch UMLS:C1838359 semapv:UnspecifiedMatching MONDO:0010850 Tessier number 4 facial cleft skos:exactMatch DOID:0111706 oblique facial clefting 1 semapv:UnspecifiedMatching MONDO:0010850 Tessier number 4 facial cleft skos:exactMatch MEDGEN:1642051 semapv:UnspecifiedMatching MONDO:0010850 Tessier number 4 facial cleft skos:exactMatch OMIM:600251 facial clefting, oblique, 1 semapv:UnspecifiedMatching MONDO:0010850 Tessier number 4 facial cleft skos:exactMatch Orphanet:141258 Tessier number 4 facial cleft semapv:UnspecifiedMatching MONDO:0010850 Tessier number 4 facial cleft skos:exactMatch UMLS:C4703420 semapv:UnspecifiedMatching MONDO:0010850 Tessier number 4 facial cleft skos:exactMatch icd11.foundation:1796306367 Tessier number 4 facial cleft semapv:UnspecifiedMatching MONDO:0010851 Lowry-MacLean syndrome skos:exactMatch MEDGEN:167095 semapv:UnspecifiedMatching MONDO:0010851 Lowry-MacLean syndrome skos:exactMatch OMIM:600252 lowry-maclean syndrome semapv:UnspecifiedMatching MONDO:0010851 Lowry-MacLean syndrome skos:exactMatch Orphanet:2409 Lowry-MacLean syndrome semapv:UnspecifiedMatching MONDO:0010851 Lowry-MacLean syndrome skos:exactMatch SCTID:721974000 semapv:UnspecifiedMatching MONDO:0010851 Lowry-MacLean syndrome skos:exactMatch UMLS:C0796020 semapv:UnspecifiedMatching MONDO:0010851 Lowry-MacLean syndrome skos:exactMatch icd11.foundation:698387769 Lowry-MacLean syndrome semapv:UnspecifiedMatching MONDO:0010851 Lowry-MacLean syndrome skos:exactMatch mesh:C537037 semapv:UnspecifiedMatching MONDO:0010852 chromosome 8Q12.1-q21.2 deletion syndrome skos:exactMatch MEDGEN:333071 semapv:UnspecifiedMatching MONDO:0010852 chromosome 8Q12.1-q21.2 deletion syndrome skos:exactMatch OMIM:600257 chromosome 8q12.1-q21.2 deletion syndrome semapv:UnspecifiedMatching MONDO:0010852 chromosome 8Q12.1-q21.2 deletion syndrome skos:exactMatch UMLS:C1838346 semapv:UnspecifiedMatching MONDO:0010852 chromosome 8Q12.1-q21.2 deletion syndrome skos:exactMatch mesh:C536574 semapv:UnspecifiedMatching MONDO:0010853 Helicobacter pylori infection, susceptibility to skos:exactMatch MEDGEN:325004 semapv:UnspecifiedMatching MONDO:0010853 Helicobacter pylori infection, susceptibility to skos:exactMatch OMIM:600263 helicobacter pylori infection, susceptibility to semapv:UnspecifiedMatching MONDO:0010853 Helicobacter pylori infection, susceptibility to skos:exactMatch UMLS:C1838332 semapv:UnspecifiedMatching MONDO:0010854 Toriello-Lacassie-Droste syndrome skos:exactMatch DOID:0111705 oculoectodermal syndrome semapv:UnspecifiedMatching MONDO:0010854 Toriello-Lacassie-Droste syndrome skos:exactMatch MEDGEN:333068 semapv:UnspecifiedMatching MONDO:0010854 Toriello-Lacassie-Droste syndrome skos:exactMatch OMIM:600268 oculoectodermal syndrome semapv:UnspecifiedMatching MONDO:0010854 Toriello-Lacassie-Droste syndrome skos:exactMatch Orphanet:3339 Oculoectodermal syndrome semapv:UnspecifiedMatching MONDO:0010854 Toriello-Lacassie-Droste syndrome skos:exactMatch SCTID:723554006 semapv:UnspecifiedMatching MONDO:0010854 Toriello-Lacassie-Droste syndrome skos:exactMatch UMLS:C1838329 semapv:UnspecifiedMatching MONDO:0010854 Toriello-Lacassie-Droste syndrome skos:exactMatch icd11.foundation:1983176633 Toriello-Lacassie-Droste syndrome semapv:UnspecifiedMatching MONDO:0010854 Toriello-Lacassie-Droste syndrome skos:exactMatch mesh:C563969 semapv:UnspecifiedMatching MONDO:0010855 short tarsus-absence of lower eyelashes syndrome skos:exactMatch MEDGEN:325001 semapv:UnspecifiedMatching MONDO:0010855 short tarsus-absence of lower eyelashes syndrome skos:exactMatch OMIM:600269 short tarsus with absence of lower eyelashes semapv:UnspecifiedMatching MONDO:0010855 short tarsus-absence of lower eyelashes syndrome skos:exactMatch Orphanet:2832 Short tarsus-absence of lower eyelashes syndrome semapv:UnspecifiedMatching MONDO:0010855 short tarsus-absence of lower eyelashes syndrome skos:exactMatch SCTID:721075001 semapv:UnspecifiedMatching MONDO:0010855 short tarsus-absence of lower eyelashes syndrome skos:exactMatch UMLS:C1838328 semapv:UnspecifiedMatching MONDO:0010855 short tarsus-absence of lower eyelashes syndrome skos:exactMatch mesh:C537036 semapv:UnspecifiedMatching MONDO:0010856 autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis skos:exactMatch MEDGEN:325000 semapv:UnspecifiedMatching MONDO:0010856 autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis skos:exactMatch OMIM:600273 polycystic kidney disease, infantile severe, with tuberous sclerosis semapv:UnspecifiedMatching MONDO:0010856 autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis skos:exactMatch Orphanet:88924 Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis semapv:UnspecifiedMatching MONDO:0010856 autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis skos:exactMatch SCTID:765331004 semapv:UnspecifiedMatching MONDO:0010856 autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis skos:exactMatch UMLS:C1838327 semapv:UnspecifiedMatching MONDO:0010856 autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis skos:exactMatch icd11.foundation:1781576728 Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis semapv:UnspecifiedMatching MONDO:0010856 autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis skos:exactMatch mesh:C536328 semapv:UnspecifiedMatching MONDO:0010857 semantic dementia skos:exactMatch DOID:0051060 frontotemporal dementia 1 semapv:UnspecifiedMatching MONDO:0010857 semantic dementia skos:exactMatch DOID:0081391 semantic dementia semapv:UnspecifiedMatching MONDO:0010857 semantic dementia skos:exactMatch MEDGEN:83268 semapv:UnspecifiedMatching MONDO:0010857 semantic dementia skos:exactMatch OMIM:600274 frontotemporal dementia 1 semapv:UnspecifiedMatching MONDO:0010857 semantic dementia skos:exactMatch Orphanet:100069 Semantic dementia semapv:UnspecifiedMatching MONDO:0010857 semantic dementia skos:exactMatch UMLS:C0338462 semapv:UnspecifiedMatching MONDO:0010858 macrocephaly-spastic paraplegia-dysmorphism syndrome skos:exactMatch MEDGEN:373933 semapv:UnspecifiedMatching MONDO:0010858 macrocephaly-spastic paraplegia-dysmorphism syndrome skos:exactMatch OMIM:600302 fryns macrocephaly semapv:UnspecifiedMatching MONDO:0010858 macrocephaly-spastic paraplegia-dysmorphism syndrome skos:exactMatch Orphanet:2429 Macrocephaly-spastic paraplegia-dysmorphism syndrome semapv:UnspecifiedMatching MONDO:0010858 macrocephaly-spastic paraplegia-dysmorphism syndrome skos:exactMatch SCTID:716108004 semapv:UnspecifiedMatching MONDO:0010858 macrocephaly-spastic paraplegia-dysmorphism syndrome skos:exactMatch UMLS:C1838281 semapv:UnspecifiedMatching MONDO:0010858 macrocephaly-spastic paraplegia-dysmorphism syndrome skos:exactMatch mesh:C563963 semapv:UnspecifiedMatching MONDO:0010859 obsolete atrioventricular septal defect 3 skos:exactMatch OMIM:600309 semapv:UnspecifiedMatching MONDO:0010860 autosomal recessive nonsyndromic hearing loss 3 skos:exactMatch DOID:0110488 autosomal recessive nonsyndromic deafness 3 semapv:UnspecifiedMatching MONDO:0010860 autosomal recessive nonsyndromic hearing loss 3 skos:exactMatch MEDGEN:325373 semapv:UnspecifiedMatching MONDO:0010860 autosomal recessive nonsyndromic hearing loss 3 skos:exactMatch OMIM:600316 deafness, autosomal recessive 3 semapv:UnspecifiedMatching MONDO:0010860 autosomal recessive nonsyndromic hearing loss 3 skos:exactMatch UMLS:C1838263 semapv:UnspecifiedMatching MONDO:0010860 autosomal recessive nonsyndromic hearing loss 3 skos:exactMatch mesh:C563961 semapv:UnspecifiedMatching MONDO:0010861 type 1 diabetes mellitus 3 skos:exactMatch DOID:0110742 type 1 diabetes mellitus 3 semapv:UnspecifiedMatching MONDO:0010861 type 1 diabetes mellitus 3 skos:exactMatch MEDGEN:325372 semapv:UnspecifiedMatching MONDO:0010861 type 1 diabetes mellitus 3 skos:exactMatch OMIM:600318 type 1 diabetes mellitus 3 semapv:UnspecifiedMatching MONDO:0010861 type 1 diabetes mellitus 3 skos:exactMatch UMLS:C1838262 semapv:UnspecifiedMatching MONDO:0010861 type 1 diabetes mellitus 3 skos:exactMatch mesh:C563960 semapv:UnspecifiedMatching MONDO:0010862 type 1 diabetes mellitus 4 skos:exactMatch DOID:0110743 type 1 diabetes mellitus 4 semapv:UnspecifiedMatching MONDO:0010862 type 1 diabetes mellitus 4 skos:exactMatch MEDGEN:373925 semapv:UnspecifiedMatching MONDO:0010862 type 1 diabetes mellitus 4 skos:exactMatch OMIM:600319 type 1 diabetes mellitus 4 semapv:UnspecifiedMatching MONDO:0010862 type 1 diabetes mellitus 4 skos:exactMatch UMLS:C1838261 semapv:UnspecifiedMatching MONDO:0010862 type 1 diabetes mellitus 4 skos:exactMatch mesh:C563959 semapv:UnspecifiedMatching MONDO:0010863 type 1 diabetes mellitus 5 skos:exactMatch DOID:0110744 type 1 diabetes mellitus 5 semapv:UnspecifiedMatching MONDO:0010863 type 1 diabetes mellitus 5 skos:exactMatch MEDGEN:325371 semapv:UnspecifiedMatching MONDO:0010863 type 1 diabetes mellitus 5 skos:exactMatch OMIM:600320 type 1 diabetes mellitus 5 semapv:UnspecifiedMatching MONDO:0010863 type 1 diabetes mellitus 5 skos:exactMatch UMLS:C1838260 semapv:UnspecifiedMatching MONDO:0010863 type 1 diabetes mellitus 5 skos:exactMatch mesh:C563958 semapv:UnspecifiedMatching MONDO:0010864 type 1 diabetes mellitus 7 skos:exactMatch DOID:0110746 type 1 diabetes mellitus 7 semapv:UnspecifiedMatching MONDO:0010864 type 1 diabetes mellitus 7 skos:exactMatch MEDGEN:333051 semapv:UnspecifiedMatching MONDO:0010864 type 1 diabetes mellitus 7 skos:exactMatch OMIM:600321 type 1 diabetes mellitus 7 semapv:UnspecifiedMatching MONDO:0010864 type 1 diabetes mellitus 7 skos:exactMatch UMLS:C1838259 semapv:UnspecifiedMatching MONDO:0010864 type 1 diabetes mellitus 7 skos:exactMatch mesh:C563957 semapv:UnspecifiedMatching MONDO:0010865 pseudoaminopterin syndrome skos:exactMatch MEDGEN:163196 semapv:UnspecifiedMatching MONDO:0010865 pseudoaminopterin syndrome skos:exactMatch OMIM:600325 aminopterin syndrome sine aminopterin semapv:UnspecifiedMatching MONDO:0010865 pseudoaminopterin syndrome skos:exactMatch Orphanet:221120 Pseudoaminopterin syndrome semapv:UnspecifiedMatching MONDO:0010865 pseudoaminopterin syndrome skos:exactMatch SCTID:715867000 semapv:UnspecifiedMatching MONDO:0010865 pseudoaminopterin syndrome skos:exactMatch UMLS:C0795939 semapv:UnspecifiedMatching MONDO:0010865 pseudoaminopterin syndrome skos:exactMatch icd11.foundation:893045173 Pseudoaminopterin syndrome semapv:UnspecifiedMatching MONDO:0010865 pseudoaminopterin syndrome skos:exactMatch mesh:C535823 semapv:UnspecifiedMatching MONDO:0010866 infantile osteopetrosis with neuroaxonal dysplasia skos:exactMatch DOID:0070343 CSF1R-related brain malformation and osteopetrosis semapv:UnspecifiedMatching MONDO:0010866 infantile osteopetrosis with neuroaxonal dysplasia skos:exactMatch MEDGEN:373924 semapv:UnspecifiedMatching MONDO:0010866 infantile osteopetrosis with neuroaxonal dysplasia skos:exactMatch OMIM:600329 osteopetrosis and infantile neuroaxonal dystrophy semapv:UnspecifiedMatching MONDO:0010866 infantile osteopetrosis with neuroaxonal dysplasia skos:exactMatch Orphanet:85179 Infantile osteopetrosis with neuroaxonal dysplasia semapv:UnspecifiedMatching MONDO:0010866 infantile osteopetrosis with neuroaxonal dysplasia skos:exactMatch SCTID:724226009 semapv:UnspecifiedMatching MONDO:0010866 infantile osteopetrosis with neuroaxonal dysplasia skos:exactMatch UMLS:C1838258 semapv:UnspecifiedMatching MONDO:0010866 infantile osteopetrosis with neuroaxonal dysplasia skos:exactMatch icd11.foundation:1434293148 Infantile osteopetrosis with neuroaxonal dysplasia semapv:UnspecifiedMatching MONDO:0010866 infantile osteopetrosis with neuroaxonal dysplasia skos:exactMatch mesh:C536055 semapv:UnspecifiedMatching MONDO:0010867 PARC syndrome skos:exactMatch MEDGEN:373923 semapv:UnspecifiedMatching MONDO:0010867 PARC syndrome skos:exactMatch OMIM:600331 parc syndrome semapv:UnspecifiedMatching MONDO:0010867 PARC syndrome skos:exactMatch Orphanet:2825 PARC syndrome semapv:UnspecifiedMatching MONDO:0010867 PARC syndrome skos:exactMatch UMLS:C1838256 semapv:UnspecifiedMatching MONDO:0010867 PARC syndrome skos:exactMatch mesh:C537174 semapv:UnspecifiedMatching MONDO:0010868 rippling muscle disease 1 skos:exactMatch DOID:0070308 rippling muscle disease 1 semapv:UnspecifiedMatching MONDO:0010868 rippling muscle disease 1 skos:exactMatch MEDGEN:324987 semapv:UnspecifiedMatching MONDO:0010868 rippling muscle disease 1 skos:exactMatch OMIM:600332 rippling muscle disease 1 semapv:UnspecifiedMatching MONDO:0010868 rippling muscle disease 1 skos:exactMatch UMLS:C1838254 semapv:UnspecifiedMatching MONDO:0010869 motor neuron disease with dementia and ophthalmoplegia skos:exactMatch MEDGEN:324986 semapv:UnspecifiedMatching MONDO:0010869 motor neuron disease with dementia and ophthalmoplegia skos:exactMatch OMIM:600333 motor neuron disease with dementia and ophthalmoplegia semapv:UnspecifiedMatching MONDO:0010869 motor neuron disease with dementia and ophthalmoplegia skos:exactMatch UMLS:C1838253 semapv:UnspecifiedMatching MONDO:0010869 motor neuron disease with dementia and ophthalmoplegia skos:exactMatch mesh:C563954 semapv:UnspecifiedMatching MONDO:0010870 tibial muscular dystrophy skos:exactMatch DOID:0111078 tibial muscular dystrophy semapv:UnspecifiedMatching MONDO:0010870 tibial muscular dystrophy skos:exactMatch MEDGEN:333047 semapv:UnspecifiedMatching MONDO:0010870 tibial muscular dystrophy skos:exactMatch OMIM:600334 tibial muscular dystrophy, tardive semapv:UnspecifiedMatching MONDO:0010870 tibial muscular dystrophy skos:exactMatch Orphanet:609 Tibial muscular dystrophy semapv:UnspecifiedMatching MONDO:0010870 tibial muscular dystrophy skos:exactMatch SCTID:698846009 semapv:UnspecifiedMatching MONDO:0010870 tibial muscular dystrophy skos:exactMatch UMLS:C1838244 semapv:UnspecifiedMatching MONDO:0010871 succinic acidemia skos:exactMatch MEDGEN:373921 semapv:UnspecifiedMatching MONDO:0010871 succinic acidemia skos:exactMatch OMIM:600335 succinic acidemia semapv:UnspecifiedMatching MONDO:0010871 succinic acidemia skos:exactMatch UMLS:C1838243 semapv:UnspecifiedMatching MONDO:0010871 succinic acidemia skos:exactMatch mesh:C563952 semapv:UnspecifiedMatching MONDO:0010872 parotid salivary glands, polycystic dysgenetic disease of skos:exactMatch MEDGEN:764047 semapv:UnspecifiedMatching MONDO:0010872 parotid salivary glands, polycystic dysgenetic disease of skos:exactMatch OMIM:600343 parotid salivary glands, polycystic dysgenetic disease of semapv:UnspecifiedMatching MONDO:0010872 parotid salivary glands, polycystic dysgenetic disease of skos:exactMatch UMLS:C3551133 semapv:UnspecifiedMatching MONDO:0010873 band heterotopia of brain skos:exactMatch MEDGEN:924885 semapv:UnspecifiedMatching MONDO:0010873 band heterotopia of brain skos:exactMatch OMIM:600348 band heterotopia semapv:UnspecifiedMatching MONDO:0010873 band heterotopia of brain skos:exactMatch UMLS:C4284594 semapv:UnspecifiedMatching MONDO:0010873 band heterotopia of brain skos:exactMatch mesh:C563950 semapv:UnspecifiedMatching MONDO:0010874 enteropathy, familial, with villous edema and immunoglobulin G2 deficiency skos:exactMatch MEDGEN:324980 semapv:UnspecifiedMatching MONDO:0010874 enteropathy, familial, with villous edema and immunoglobulin G2 deficiency skos:exactMatch OMIM:600351 enteropathy, familial, with villous edema and immunoglobulin g2 deficiency semapv:UnspecifiedMatching MONDO:0010874 enteropathy, familial, with villous edema and immunoglobulin G2 deficiency skos:exactMatch UMLS:C1838238 semapv:UnspecifiedMatching MONDO:0010874 enteropathy, familial, with villous edema and immunoglobulin G2 deficiency skos:exactMatch mesh:C563949 semapv:UnspecifiedMatching MONDO:0010875 pachydermodactyly, familial skos:exactMatch MEDGEN:324974 semapv:UnspecifiedMatching MONDO:0010875 pachydermodactyly, familial skos:exactMatch OMIM:600356 pachydermodactyly, familial semapv:UnspecifiedMatching MONDO:0010875 pachydermodactyly, familial skos:exactMatch UMLS:C1838218 semapv:UnspecifiedMatching MONDO:0010875 pachydermodactyly, familial skos:exactMatch mesh:C563947 semapv:UnspecifiedMatching MONDO:0010876 recessive aplasia cutis congenita of limbs skos:exactMatch MEDGEN:324970 semapv:UnspecifiedMatching MONDO:0010876 recessive aplasia cutis congenita of limbs skos:exactMatch OMIM:600360 aplasia cutis congenita of limbs, autosomal recessive semapv:UnspecifiedMatching MONDO:0010876 recessive aplasia cutis congenita of limbs skos:exactMatch SCTID:723500009 semapv:UnspecifiedMatching MONDO:0010876 recessive aplasia cutis congenita of limbs skos:exactMatch UMLS:C1838206 semapv:UnspecifiedMatching MONDO:0010876 recessive aplasia cutis congenita of limbs skos:exactMatch mesh:C536840 semapv:UnspecifiedMatching MONDO:0010877 Charcot-Marie-Tooth disease type 5 skos:exactMatch DOID:0080067 Charcot-Marie-Tooth disease type 5 semapv:UnspecifiedMatching MONDO:0010877 Charcot-Marie-Tooth disease type 5 skos:exactMatch MEDGEN:1648461 semapv:UnspecifiedMatching MONDO:0010877 Charcot-Marie-Tooth disease type 5 skos:exactMatch OMIM:600361 hereditary motor and sensory neuropathy 5 semapv:UnspecifiedMatching MONDO:0010877 Charcot-Marie-Tooth disease type 5 skos:exactMatch Orphanet:64751 Hereditary motor and sensory neuropathy type 5 semapv:UnspecifiedMatching MONDO:0010877 Charcot-Marie-Tooth disease type 5 skos:exactMatch SCTID:76043009 semapv:UnspecifiedMatching MONDO:0010877 Charcot-Marie-Tooth disease type 5 skos:exactMatch UMLS:C4721916 semapv:UnspecifiedMatching MONDO:0010878 hereditary spastic paraplegia 6 skos:exactMatch DOID:0110811 hereditary spastic paraplegia 6 semapv:UnspecifiedMatching MONDO:0010878 hereditary spastic paraplegia 6 skos:exactMatch MEDGEN:324965 semapv:UnspecifiedMatching MONDO:0010878 hereditary spastic paraplegia 6 skos:exactMatch OMIM:600363 spastic paraplegia 6, autosomal dominant semapv:UnspecifiedMatching MONDO:0010878 hereditary spastic paraplegia 6 skos:exactMatch Orphanet:100988 Autosomal dominant spastic paraplegia type 6 semapv:UnspecifiedMatching MONDO:0010878 hereditary spastic paraplegia 6 skos:exactMatch SCTID:732949006 semapv:UnspecifiedMatching MONDO:0010878 hereditary spastic paraplegia 6 skos:exactMatch UMLS:C1838192 semapv:UnspecifiedMatching MONDO:0010878 hereditary spastic paraplegia 6 skos:exactMatch mesh:C536866 semapv:UnspecifiedMatching MONDO:0010879 CODAS syndrome skos:exactMatch DOID:0111274 CODAS syndrome semapv:UnspecifiedMatching MONDO:0010879 CODAS syndrome skos:exactMatch MEDGEN:333031 semapv:UnspecifiedMatching MONDO:0010879 CODAS syndrome skos:exactMatch NCIT:C126744 Codas Syndrome semapv:UnspecifiedMatching MONDO:0010879 CODAS syndrome skos:exactMatch OMIM:600373 codas syndrome semapv:UnspecifiedMatching MONDO:0010879 CODAS syndrome skos:exactMatch Orphanet:1458 CODAS syndrome semapv:UnspecifiedMatching MONDO:0010879 CODAS syndrome skos:exactMatch SCTID:717772000 semapv:UnspecifiedMatching MONDO:0010879 CODAS syndrome skos:exactMatch UMLS:C1838180 semapv:UnspecifiedMatching MONDO:0010879 CODAS syndrome skos:exactMatch mesh:C536434 semapv:UnspecifiedMatching MONDO:0010880 telangiectasia, hereditary hemorrhagic, type 2 skos:exactMatch MEDGEN:324960 semapv:UnspecifiedMatching MONDO:0010880 telangiectasia, hereditary hemorrhagic, type 2 skos:exactMatch OMIM:600376 telangiectasia, hereditary hemorrhagic, type 2 semapv:UnspecifiedMatching MONDO:0010880 telangiectasia, hereditary hemorrhagic, type 2 skos:exactMatch UMLS:C1838163 semapv:UnspecifiedMatching MONDO:0010881 mesomelia-synostoses syndrome skos:exactMatch MEDGEN:324959 semapv:UnspecifiedMatching MONDO:0010881 mesomelia-synostoses syndrome skos:exactMatch OMIM:600383 mesomelia-synostoses syndrome semapv:UnspecifiedMatching MONDO:0010881 mesomelia-synostoses syndrome skos:exactMatch Orphanet:2496 Mesomelia-synostoses syndrome semapv:UnspecifiedMatching MONDO:0010881 mesomelia-synostoses syndrome skos:exactMatch SCTID:724147004 semapv:UnspecifiedMatching MONDO:0010881 mesomelia-synostoses syndrome skos:exactMatch UMLS:C1838162 semapv:UnspecifiedMatching MONDO:0010881 mesomelia-synostoses syndrome skos:exactMatch mesh:C537348 semapv:UnspecifiedMatching MONDO:0010882 aphalangy-syndactyly-microcephaly syndrome skos:exactMatch MEDGEN:324958 semapv:UnspecifiedMatching MONDO:0010882 aphalangy-syndactyly-microcephaly syndrome skos:exactMatch OMIM:600384 aphalangia, partial, with syndactyly and duplication of metatarsal 4 semapv:UnspecifiedMatching MONDO:0010882 aphalangy-syndactyly-microcephaly syndrome skos:exactMatch Orphanet:1113 Aphalangy-syndactyly-microcephaly syndrome semapv:UnspecifiedMatching MONDO:0010882 aphalangy-syndactyly-microcephaly syndrome skos:exactMatch UMLS:C1838161 semapv:UnspecifiedMatching MONDO:0010882 aphalangy-syndactyly-microcephaly syndrome skos:exactMatch mesh:C563942 semapv:UnspecifiedMatching MONDO:0010883 pectus excavatum-macrocephaly-dysplastic nails syndrome skos:exactMatch MEDGEN:373902 semapv:UnspecifiedMatching MONDO:0010883 pectus excavatum-macrocephaly-dysplastic nails syndrome skos:exactMatch OMIM:600399 pectus excavatum, macrocephaly, short stature, and dysplastic nails semapv:UnspecifiedMatching MONDO:0010883 pectus excavatum-macrocephaly-dysplastic nails syndrome skos:exactMatch Orphanet:2835 Pectus excavatum-macrocephaly-dysplastic nails syndrome semapv:UnspecifiedMatching MONDO:0010883 pectus excavatum-macrocephaly-dysplastic nails syndrome skos:exactMatch SCTID:763863002 semapv:UnspecifiedMatching MONDO:0010883 pectus excavatum-macrocephaly-dysplastic nails syndrome skos:exactMatch UMLS:C1838160 semapv:UnspecifiedMatching MONDO:0010883 pectus excavatum-macrocephaly-dysplastic nails syndrome skos:exactMatch mesh:C536728 semapv:UnspecifiedMatching MONDO:0010884 muscular dystrophy, scapulohumeral skos:exactMatch MEDGEN:98373 semapv:UnspecifiedMatching MONDO:0010884 muscular dystrophy, scapulohumeral skos:exactMatch OMIM:600416 muscular dystrophy, scapulohumeral semapv:UnspecifiedMatching MONDO:0010884 muscular dystrophy, scapulohumeral skos:exactMatch SCTID:240074006 semapv:UnspecifiedMatching MONDO:0010884 muscular dystrophy, scapulohumeral skos:exactMatch UMLS:C0410192 semapv:UnspecifiedMatching MONDO:0010884 muscular dystrophy, scapulohumeral skos:exactMatch mesh:C562932 semapv:UnspecifiedMatching MONDO:0010885 angiokeratoma corporis diffusum with arteriovenous fistulas skos:exactMatch MEDGEN:324953 semapv:UnspecifiedMatching MONDO:0010885 angiokeratoma corporis diffusum with arteriovenous fistulas skos:exactMatch OMIM:600419 angiokeratoma corporis diffusum with arteriovenous fistulas semapv:UnspecifiedMatching MONDO:0010885 angiokeratoma corporis diffusum with arteriovenous fistulas skos:exactMatch UMLS:C1838141 semapv:UnspecifiedMatching MONDO:0010885 angiokeratoma corporis diffusum with arteriovenous fistulas skos:exactMatch mesh:C563940 semapv:UnspecifiedMatching MONDO:0010886 2q37 microdeletion syndrome skos:exactMatch DOID:0111704 chromosome 2q37 deletion syndrome semapv:UnspecifiedMatching MONDO:0010886 2q37 microdeletion syndrome skos:exactMatch MEDGEN:419169 semapv:UnspecifiedMatching MONDO:0010886 2q37 microdeletion syndrome skos:exactMatch NCIT:C129021 Chromosome 2q37 Deletion Syndrome semapv:UnspecifiedMatching MONDO:0010886 2q37 microdeletion syndrome skos:exactMatch OMIM:600430 chromosome 2q37 deletion syndrome semapv:UnspecifiedMatching MONDO:0010886 2q37 microdeletion syndrome skos:exactMatch Orphanet:1001 2q37 microdeletion syndrome semapv:UnspecifiedMatching MONDO:0010886 2q37 microdeletion syndrome skos:exactMatch SCTID:702357000 semapv:UnspecifiedMatching MONDO:0010886 2q37 microdeletion syndrome skos:exactMatch UMLS:C2931817 semapv:UnspecifiedMatching MONDO:0010886 2q37 microdeletion syndrome skos:exactMatch mesh:C538317 semapv:UnspecifiedMatching MONDO:0010887 isolated anterior cervical hypertrichosis skos:exactMatch MEDGEN:325346 semapv:UnspecifiedMatching MONDO:0010887 isolated anterior cervical hypertrichosis skos:exactMatch OMIM:600457 hypertrichosis, anterior cervical semapv:UnspecifiedMatching MONDO:0010887 isolated anterior cervical hypertrichosis skos:exactMatch Orphanet:3387 Isolated anterior cervical hypertrichosis semapv:UnspecifiedMatching MONDO:0010887 isolated anterior cervical hypertrichosis skos:exactMatch SCTID:717963001 semapv:UnspecifiedMatching MONDO:0010887 isolated anterior cervical hypertrichosis skos:exactMatch UMLS:C1838123 semapv:UnspecifiedMatching MONDO:0010887 isolated anterior cervical hypertrichosis skos:exactMatch mesh:C538390 semapv:UnspecifiedMatching MONDO:0010888 adenomyosis skos:exactMatch DOID:288 endometriosis of uterus semapv:UnspecifiedMatching MONDO:0010888 adenomyosis skos:exactMatch ICD10CM:N80.0 Endometriosis of uterus semapv:UnspecifiedMatching MONDO:0010888 adenomyosis skos:exactMatch MEDGEN:1805484 semapv:UnspecifiedMatching MONDO:0010888 adenomyosis skos:exactMatch NCIT:C6996 Uterine Corpus Adenomyosis semapv:UnspecifiedMatching MONDO:0010888 adenomyosis skos:exactMatch OMIM:600458 adenomyosis semapv:UnspecifiedMatching MONDO:0010888 adenomyosis skos:exactMatch SCTID:237115002 semapv:UnspecifiedMatching MONDO:0010888 adenomyosis skos:exactMatch UMLS:C5574708 semapv:UnspecifiedMatching MONDO:0010888 adenomyosis skos:exactMatch icd11.foundation:171294592 Adenomyosis semapv:UnspecifiedMatching MONDO:0010888 adenomyosis skos:exactMatch mesh:D062788 semapv:UnspecifiedMatching MONDO:0010889 arterial dissection-lentiginosis syndrome skos:exactMatch MEDGEN:325345 semapv:UnspecifiedMatching MONDO:0010889 arterial dissection-lentiginosis syndrome skos:exactMatch OMIM:600459 arterial dissection with lentiginosis semapv:UnspecifiedMatching MONDO:0010889 arterial dissection-lentiginosis syndrome skos:exactMatch Orphanet:1682 Arterial dissection-lentiginosis syndrome semapv:UnspecifiedMatching MONDO:0010889 arterial dissection-lentiginosis syndrome skos:exactMatch UMLS:C1838122 semapv:UnspecifiedMatching MONDO:0010889 arterial dissection-lentiginosis syndrome skos:exactMatch mesh:C563937 semapv:UnspecifiedMatching MONDO:0010890 acrocardiofacial syndrome skos:exactMatch DOID:0070419 acrocardiofacial syndrome semapv:UnspecifiedMatching MONDO:0010890 acrocardiofacial syndrome skos:exactMatch MEDGEN:324947 semapv:UnspecifiedMatching MONDO:0010890 acrocardiofacial syndrome skos:exactMatch OMIM:600460 cleft palate, cardiac defects, genital anomalies, and ectrodactyly semapv:UnspecifiedMatching MONDO:0010890 acrocardiofacial syndrome skos:exactMatch Orphanet:2008 Acrocardiofacial syndrome semapv:UnspecifiedMatching MONDO:0010890 acrocardiofacial syndrome skos:exactMatch UMLS:C1838121 semapv:UnspecifiedMatching MONDO:0010890 acrocardiofacial syndrome skos:exactMatch icd11.foundation:976844546 Acrocardiofacial syndrome semapv:UnspecifiedMatching MONDO:0010890 acrocardiofacial syndrome skos:exactMatch mesh:C563936 semapv:UnspecifiedMatching MONDO:0010891 lethal hemolytic anemia-genital anomalies syndrome skos:exactMatch MEDGEN:333019 semapv:UnspecifiedMatching MONDO:0010891 lethal hemolytic anemia-genital anomalies syndrome skos:exactMatch OMIM:600461 hemolytic anemia, lethal congenital nonspherocytic, with genital and other abnormalities semapv:UnspecifiedMatching MONDO:0010891 lethal hemolytic anemia-genital anomalies syndrome skos:exactMatch Orphanet:1046 Lethal hemolytic anemia-genital anomalies syndrome semapv:UnspecifiedMatching MONDO:0010891 lethal hemolytic anemia-genital anomalies syndrome skos:exactMatch UMLS:C1838120 semapv:UnspecifiedMatching MONDO:0010891 lethal hemolytic anemia-genital anomalies syndrome skos:exactMatch mesh:C563935 semapv:UnspecifiedMatching MONDO:0010893 malignant hyperthermia, susceptibility to, 4 skos:exactMatch MEDGEN:324944 semapv:UnspecifiedMatching MONDO:0010893 malignant hyperthermia, susceptibility to, 4 skos:exactMatch OMIM:600467 malignant hyperthermia, susceptibility to, 4 semapv:UnspecifiedMatching MONDO:0010893 malignant hyperthermia, susceptibility to, 4 skos:exactMatch UMLS:C1838102 semapv:UnspecifiedMatching MONDO:0010893 malignant hyperthermia, susceptibility to, 4 skos:exactMatch mesh:C535697 semapv:UnspecifiedMatching MONDO:0010894 maturity-onset diabetes of the young type 3 skos:exactMatch DOID:0111102 maturity-onset diabetes of the young type 3 semapv:UnspecifiedMatching MONDO:0010894 maturity-onset diabetes of the young type 3 skos:exactMatch MEDGEN:324942 semapv:UnspecifiedMatching MONDO:0010894 maturity-onset diabetes of the young type 3 skos:exactMatch NCIT:C129742 Hepatocyte Nuclear Factor 1-Alpha-Associated Monogenic Diabetes semapv:UnspecifiedMatching MONDO:0010894 maturity-onset diabetes of the young type 3 skos:exactMatch OMIM:600496 maturity-onset diabetes of the young, type 3 semapv:UnspecifiedMatching MONDO:0010894 maturity-onset diabetes of the young type 3 skos:exactMatch SCTID:609570008 semapv:UnspecifiedMatching MONDO:0010894 maturity-onset diabetes of the young type 3 skos:exactMatch UMLS:C1838100 semapv:UnspecifiedMatching MONDO:0010894 maturity-onset diabetes of the young type 3 skos:exactMatch mesh:C563933 semapv:UnspecifiedMatching MONDO:0010895 ABCD syndrome skos:exactMatch DOID:0050600 ABCD syndrome semapv:UnspecifiedMatching MONDO:0010895 ABCD syndrome skos:exactMatch MEDGEN:333014 semapv:UnspecifiedMatching MONDO:0010895 ABCD syndrome skos:exactMatch OMIM:600501 abcd syndrome semapv:UnspecifiedMatching MONDO:0010895 ABCD syndrome skos:exactMatch UMLS:C1838099 semapv:UnspecifiedMatching MONDO:0010895 ABCD syndrome skos:exactMatch mesh:C535334 semapv:UnspecifiedMatching MONDO:0010896 pigment dispersion syndrome skos:exactMatch DOID:0060680 pigment dispersion syndrome semapv:UnspecifiedMatching MONDO:0010896 pigment dispersion syndrome skos:exactMatch MEDGEN:220866 semapv:UnspecifiedMatching MONDO:0010896 pigment dispersion syndrome skos:exactMatch NCIT:C187288 Pigment Dispersion Syndrome semapv:UnspecifiedMatching MONDO:0010896 pigment dispersion syndrome skos:exactMatch OMIM:600510 ocular pigment dispersion with or without glaucoma semapv:UnspecifiedMatching MONDO:0010896 pigment dispersion syndrome skos:exactMatch SCTID:392133001 semapv:UnspecifiedMatching MONDO:0010896 pigment dispersion syndrome skos:exactMatch UMLS:C1271398 semapv:UnspecifiedMatching MONDO:0010896 pigment dispersion syndrome skos:exactMatch mesh:C563184 semapv:UnspecifiedMatching MONDO:0010897 schizophrenia 3 skos:exactMatch DOID:0070079 schizophrenia 3 semapv:UnspecifiedMatching MONDO:0010897 schizophrenia 3 skos:exactMatch MEDGEN:324936 semapv:UnspecifiedMatching MONDO:0010897 schizophrenia 3 skos:exactMatch OMIM:600511 schizophrenia 3 semapv:UnspecifiedMatching MONDO:0010897 schizophrenia 3 skos:exactMatch UMLS:C1838069 semapv:UnspecifiedMatching MONDO:0010898 autosomal dominant epilepsy with auditory features skos:exactMatch MEDGEN:325326 semapv:UnspecifiedMatching MONDO:0010898 autosomal dominant epilepsy with auditory features skos:exactMatch Orphanet:101046 Epilepsy with auditory features semapv:UnspecifiedMatching MONDO:0010898 autosomal dominant epilepsy with auditory features skos:exactMatch UMLS:C1838062 semapv:UnspecifiedMatching MONDO:0010898 autosomal dominant epilepsy with auditory features skos:exactMatch icd11.foundation:832717248 Autosomal dominant epilepsy with auditory features semapv:UnspecifiedMatching MONDO:0010898 autosomal dominant epilepsy with auditory features skos:exactMatch mesh:C537297 semapv:UnspecifiedMatching MONDO:0010899 autosomal dominant nocturnal frontal lobe epilepsy 1 skos:exactMatch DOID:0060682 autosomal dominant nocturnal frontal lobe epilepsy 1 semapv:UnspecifiedMatching MONDO:0010899 autosomal dominant nocturnal frontal lobe epilepsy 1 skos:exactMatch MEDGEN:324932 semapv:UnspecifiedMatching MONDO:0010899 autosomal dominant nocturnal frontal lobe epilepsy 1 skos:exactMatch OMIM:600513 epilepsy, nocturnal frontal lobe, 1 semapv:UnspecifiedMatching MONDO:0010899 autosomal dominant nocturnal frontal lobe epilepsy 1 skos:exactMatch UMLS:C1838049 semapv:UnspecifiedMatching MONDO:0010899 autosomal dominant nocturnal frontal lobe epilepsy 1 skos:exactMatch mesh:C563930 semapv:UnspecifiedMatching MONDO:0010900 intrauterine growth retardation with increased mitomycin c sensitivity skos:exactMatch MEDGEN:419040 semapv:UnspecifiedMatching MONDO:0010900 intrauterine growth retardation with increased mitomycin c sensitivity skos:exactMatch OMIM:600546 intrauterine growth retardation with increased mitomycin c sensitivity semapv:UnspecifiedMatching MONDO:0010900 intrauterine growth retardation with increased mitomycin c sensitivity skos:exactMatch UMLS:C2931307 semapv:UnspecifiedMatching MONDO:0010900 intrauterine growth retardation with increased mitomycin c sensitivity skos:exactMatch mesh:C536744 semapv:UnspecifiedMatching MONDO:0010901 HEC syndrome skos:exactMatch MEDGEN:331549 semapv:UnspecifiedMatching MONDO:0010901 HEC syndrome skos:exactMatch OMIM:600559 hydrocephalus, endocardial fibroelastosis, and cataracts semapv:UnspecifiedMatching MONDO:0010901 HEC syndrome skos:exactMatch Orphanet:2119 HEC syndrome semapv:UnspecifiedMatching MONDO:0010901 HEC syndrome skos:exactMatch SCTID:721015008 semapv:UnspecifiedMatching MONDO:0010901 HEC syndrome skos:exactMatch UMLS:C1833607 semapv:UnspecifiedMatching MONDO:0010901 HEC syndrome skos:exactMatch mesh:C535855 semapv:UnspecifiedMatching MONDO:0010902 spondyloepiphyseal dysplasia, Reardon type skos:exactMatch MEDGEN:322238 semapv:UnspecifiedMatching MONDO:0010902 spondyloepiphyseal dysplasia, Reardon type skos:exactMatch OMIM:600561 spondyloepiphyseal dysplasia with atlantoaxial instability semapv:UnspecifiedMatching MONDO:0010902 spondyloepiphyseal dysplasia, Reardon type skos:exactMatch Orphanet:163662 Spondyloepiphyseal dysplasia, Reardon type semapv:UnspecifiedMatching MONDO:0010902 spondyloepiphyseal dysplasia, Reardon type skos:exactMatch SCTID:718764004 semapv:UnspecifiedMatching MONDO:0010902 spondyloepiphyseal dysplasia, Reardon type skos:exactMatch UMLS:C1833603 semapv:UnspecifiedMatching MONDO:0010902 spondyloepiphyseal dysplasia, Reardon type skos:exactMatch icd11.foundation:1019322569 Spondyloepiphyseal dysplasia, Reardon type semapv:UnspecifiedMatching MONDO:0010902 spondyloepiphyseal dysplasia, Reardon type skos:exactMatch mesh:C563472 semapv:UnspecifiedMatching MONDO:0010903 craniosynostosis, Adelaide type skos:exactMatch MEDGEN:371600 semapv:UnspecifiedMatching MONDO:0010903 craniosynostosis, Adelaide type skos:exactMatch OMIM:600593 craniosynostosis, adelaide type semapv:UnspecifiedMatching MONDO:0010903 craniosynostosis, Adelaide type skos:exactMatch UMLS:C1833578 semapv:UnspecifiedMatching MONDO:0010903 craniosynostosis, Adelaide type skos:exactMatch mesh:C563471 semapv:UnspecifiedMatching MONDO:0010904 setting-Sun phenomenon, familial benign skos:exactMatch MEDGEN:318913 semapv:UnspecifiedMatching MONDO:0010904 setting-Sun phenomenon, familial benign skos:exactMatch OMIM:600598 setting-sun phenomenon, familial benign semapv:UnspecifiedMatching MONDO:0010904 setting-Sun phenomenon, familial benign skos:exactMatch UMLS:C1833577 semapv:UnspecifiedMatching MONDO:0010904 setting-Sun phenomenon, familial benign skos:exactMatch mesh:C563470 semapv:UnspecifiedMatching MONDO:0010905 cone-rod dystrophy 1 skos:exactMatch DOID:0111009 cone-rod dystrophy 1 semapv:UnspecifiedMatching MONDO:0010905 cone-rod dystrophy 1 skos:exactMatch MEDGEN:371596 semapv:UnspecifiedMatching MONDO:0010905 cone-rod dystrophy 1 skos:exactMatch OMIM:600624 cone-rod dystrophy 1 semapv:UnspecifiedMatching MONDO:0010905 cone-rod dystrophy 1 skos:exactMatch UMLS:C1833564 semapv:UnspecifiedMatching MONDO:0010905 cone-rod dystrophy 1 skos:exactMatch mesh:C563469 semapv:UnspecifiedMatching MONDO:0010906 orofacial cleft 11 skos:exactMatch DOID:0080404 orofacial cleft 11 semapv:UnspecifiedMatching MONDO:0010906 orofacial cleft 11 skos:exactMatch MEDGEN:436944 semapv:UnspecifiedMatching MONDO:0010906 orofacial cleft 11 skos:exactMatch OMIM:600625 orofacial cleft 11 semapv:UnspecifiedMatching MONDO:0010906 orofacial cleft 11 skos:exactMatch UMLS:C2677434 semapv:UnspecifiedMatching MONDO:0010907 familial hypertryptophanemia skos:exactMatch DOID:0111703 familial hypertryptophanemia semapv:UnspecifiedMatching MONDO:0010907 familial hypertryptophanemia skos:exactMatch MEDGEN:419177 semapv:UnspecifiedMatching MONDO:0010907 familial hypertryptophanemia skos:exactMatch OMIM:600627 hypertryptophanemia semapv:UnspecifiedMatching MONDO:0010907 familial hypertryptophanemia skos:exactMatch Orphanet:2224 Hypertryptophanemia semapv:UnspecifiedMatching MONDO:0010907 familial hypertryptophanemia skos:exactMatch SCTID:721838005 semapv:UnspecifiedMatching MONDO:0010907 familial hypertryptophanemia skos:exactMatch UMLS:C2931837 semapv:UnspecifiedMatching MONDO:0010907 familial hypertryptophanemia skos:exactMatch mesh:C538393 semapv:UnspecifiedMatching MONDO:0010908 loose anagen syndrome skos:exactMatch DOID:0111702 loose anagen hair syndrome semapv:UnspecifiedMatching MONDO:0010908 loose anagen syndrome skos:exactMatch MEDGEN:98351 semapv:UnspecifiedMatching MONDO:0010908 loose anagen syndrome skos:exactMatch OMIM:600628 loose anagen hair syndrome semapv:UnspecifiedMatching MONDO:0010908 loose anagen syndrome skos:exactMatch Orphanet:168 Loose anagen syndrome semapv:UnspecifiedMatching MONDO:0010908 loose anagen syndrome skos:exactMatch SCTID:238735005 semapv:UnspecifiedMatching MONDO:0010908 loose anagen syndrome skos:exactMatch UMLS:C0406468 semapv:UnspecifiedMatching MONDO:0010908 loose anagen syndrome skos:exactMatch icd11.foundation:547259783 Loose anagen syndrome semapv:UnspecifiedMatching MONDO:0010908 loose anagen syndrome skos:exactMatch mesh:D058247 semapv:UnspecifiedMatching MONDO:0010909 UV-sensitive syndrome 1 skos:exactMatch MEDGEN:764087 semapv:UnspecifiedMatching MONDO:0010909 UV-sensitive syndrome 1 skos:exactMatch NCIT:C173106 UV-Sensitive Syndrome 1 semapv:UnspecifiedMatching MONDO:0010909 UV-sensitive syndrome 1 skos:exactMatch OMIM:600630 uv-sensitive syndrome 1 semapv:UnspecifiedMatching MONDO:0010909 UV-sensitive syndrome 1 skos:exactMatch UMLS:C3551173 semapv:UnspecifiedMatching MONDO:0010910 enuresis, nocturnal, 1 skos:exactMatch OMIM:600631 enuresis, nocturnal, 1 semapv:UnspecifiedMatching MONDO:0010911 prolactin-producing pituitary gland adenoma skos:exactMatch DOID:5394 prolactinoma semapv:UnspecifiedMatching MONDO:0010911 prolactin-producing pituitary gland adenoma skos:exactMatch EFO:1000496 semapv:UnspecifiedMatching MONDO:0010911 prolactin-producing pituitary gland adenoma skos:exactMatch MEDGEN:10936 semapv:UnspecifiedMatching MONDO:0010911 prolactin-producing pituitary gland adenoma skos:exactMatch NCIT:C3342 Lactotroph Pituitary Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO:0010911 prolactin-producing pituitary gland adenoma skos:exactMatch Orphanet:2965 Prolactinoma semapv:UnspecifiedMatching MONDO:0010911 prolactin-producing pituitary gland adenoma skos:exactMatch SCTID:134209002 semapv:UnspecifiedMatching MONDO:0010911 prolactin-producing pituitary gland adenoma skos:exactMatch UMLS:C0033375 semapv:UnspecifiedMatching MONDO:0010911 prolactin-producing pituitary gland adenoma skos:exactMatch mesh:D015175 semapv:UnspecifiedMatching MONDO:0010912 fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement skos:exactMatch DOID:0081017 congenital fibrosis of the extraocular muscles 3A semapv:UnspecifiedMatching MONDO:0010912 fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement skos:exactMatch MEDGEN:412638 semapv:UnspecifiedMatching MONDO:0010912 fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement skos:exactMatch OMIM:600638 fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement semapv:UnspecifiedMatching MONDO:0010912 fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement skos:exactMatch UMLS:C2748801 semapv:UnspecifiedMatching MONDO:0010912 fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement skos:exactMatch mesh:C567572 semapv:UnspecifiedMatching MONDO:0010913 Caroli disease skos:exactMatch DOID:0050876 Caroli disease semapv:UnspecifiedMatching MONDO:0010913 Caroli disease skos:exactMatch EFO:1001286 semapv:UnspecifiedMatching MONDO:0010913 Caroli disease skos:exactMatch MEDGEN:57924 semapv:UnspecifiedMatching MONDO:0010913 Caroli disease skos:exactMatch NCIT:C84619 Caroli Disease semapv:UnspecifiedMatching MONDO:0010913 Caroli disease skos:exactMatch OMIM:600643 caroli disease, isolated semapv:UnspecifiedMatching MONDO:0010913 Caroli disease skos:exactMatch Orphanet:53035 Caroli disease semapv:UnspecifiedMatching MONDO:0010913 Caroli disease skos:exactMatch SCTID:717232005 semapv:UnspecifiedMatching MONDO:0010913 Caroli disease skos:exactMatch UMLS:C0162510 semapv:UnspecifiedMatching MONDO:0010913 Caroli disease skos:exactMatch icd11.foundation:1757434239 Caroli disease semapv:UnspecifiedMatching MONDO:0010913 Caroli disease skos:exactMatch mesh:D016767 semapv:UnspecifiedMatching MONDO:0010914 carnitine palmitoyl transferase II deficiency, severe infantile form skos:exactMatch MEDGEN:322211 semapv:UnspecifiedMatching MONDO:0010914 carnitine palmitoyl transferase II deficiency, severe infantile form skos:exactMatch OMIM:600649 carnitine palmitoyltransferase 2 deficiency, infantile semapv:UnspecifiedMatching MONDO:0010914 carnitine palmitoyl transferase II deficiency, severe infantile form skos:exactMatch Orphanet:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form semapv:UnspecifiedMatching MONDO:0010914 carnitine palmitoyl transferase II deficiency, severe infantile form skos:exactMatch UMLS:C1833511 semapv:UnspecifiedMatching MONDO:0010914 carnitine palmitoyl transferase II deficiency, severe infantile form skos:exactMatch mesh:C563462 semapv:UnspecifiedMatching MONDO:0010915 autosomal dominant nonsyndromic hearing loss 4A skos:exactMatch DOID:0110573 autosomal dominant nonsyndromic deafness 4A semapv:UnspecifiedMatching MONDO:0010915 autosomal dominant nonsyndromic hearing loss 4A skos:exactMatch MEDGEN:322209 semapv:UnspecifiedMatching MONDO:0010915 autosomal dominant nonsyndromic hearing loss 4A skos:exactMatch OMIM:600652 deafness, autosomal dominant 4a semapv:UnspecifiedMatching MONDO:0010915 autosomal dominant nonsyndromic hearing loss 4A skos:exactMatch UMLS:C1833503 semapv:UnspecifiedMatching MONDO:0010915 autosomal dominant nonsyndromic hearing loss 4A skos:exactMatch mesh:C563460 semapv:UnspecifiedMatching MONDO:0010916 polycystic kidney disease 3 with or without polycystic liver disease skos:exactMatch DOID:0110860 polycystic kidney disease 3 semapv:UnspecifiedMatching MONDO:0010916 polycystic kidney disease 3 with or without polycystic liver disease skos:exactMatch MEDGEN:854672 semapv:UnspecifiedMatching MONDO:0010916 polycystic kidney disease 3 with or without polycystic liver disease skos:exactMatch OMIM:600666 polycystic kidney disease 3 with or without polycystic liver disease semapv:UnspecifiedMatching MONDO:0010916 polycystic kidney disease 3 with or without polycystic liver disease skos:exactMatch UMLS:C3887964 semapv:UnspecifiedMatching MONDO:0010917 chondrocalcinosis 1 skos:exactMatch MEDGEN:331527 semapv:UnspecifiedMatching MONDO:0010917 chondrocalcinosis 1 skos:exactMatch OMIM:600668 chondrocalcinosis 1 semapv:UnspecifiedMatching MONDO:0010917 chondrocalcinosis 1 skos:exactMatch UMLS:C1833499 semapv:UnspecifiedMatching MONDO:0010917 chondrocalcinosis 1 skos:exactMatch mesh:C535938 semapv:UnspecifiedMatching MONDO:0010918 epilepsy, idiopathic generalized, susceptibility to, 1 skos:exactMatch MEDGEN:412636 semapv:UnspecifiedMatching MONDO:0010918 epilepsy, idiopathic generalized, susceptibility to, 1 skos:exactMatch SCTID:36803009 semapv:UnspecifiedMatching MONDO:0010918 epilepsy, idiopathic generalized, susceptibility to, 1 skos:exactMatch UMLS:C2748799 semapv:UnspecifiedMatching MONDO:0010919 varicella, severe recurrent skos:exactMatch MEDGEN:322202 semapv:UnspecifiedMatching MONDO:0010919 varicella, severe recurrent skos:exactMatch OMIM:600670 varicella, severe recurrent semapv:UnspecifiedMatching MONDO:0010919 varicella, severe recurrent skos:exactMatch UMLS:C1833487 semapv:UnspecifiedMatching MONDO:0010919 varicella, severe recurrent skos:exactMatch mesh:C563458 semapv:UnspecifiedMatching MONDO:0010920 microtia skos:exactMatch ICD10CM:Q17.2 Microtia semapv:UnspecifiedMatching MONDO:0010920 microtia skos:exactMatch MEDGEN:322201 semapv:UnspecifiedMatching MONDO:0010920 microtia skos:exactMatch OMIM:600674 microtia-anotia semapv:UnspecifiedMatching MONDO:0010920 microtia skos:exactMatch Orphanet:83463 Microtia semapv:UnspecifiedMatching MONDO:0010920 microtia skos:exactMatch SCTID:35045004 semapv:UnspecifiedMatching MONDO:0010920 microtia skos:exactMatch UMLS:C1833486 semapv:UnspecifiedMatching MONDO:0010920 microtia skos:exactMatch icd11.foundation:2005415414 Microtia semapv:UnspecifiedMatching MONDO:0010920 microtia skos:exactMatch mesh:D065817 semapv:UnspecifiedMatching MONDO:0010921 nasal dermoid cyst skos:exactMatch MEDGEN:371575 semapv:UnspecifiedMatching MONDO:0010921 nasal dermoid cyst skos:exactMatch OMIM:600679 dermoid cysts, familial frontonasal semapv:UnspecifiedMatching MONDO:0010921 nasal dermoid cyst skos:exactMatch Orphanet:141103 Nasal dermoid cyst semapv:UnspecifiedMatching MONDO:0010921 nasal dermoid cyst skos:exactMatch UMLS:C1833473 semapv:UnspecifiedMatching MONDO:0010921 nasal dermoid cyst skos:exactMatch mesh:C563455 semapv:UnspecifiedMatching MONDO:0010922 Satoyoshi syndrome skos:exactMatch MEDGEN:318882 semapv:UnspecifiedMatching MONDO:0010922 Satoyoshi syndrome skos:exactMatch OMIM:600705 satoyoshi syndrome semapv:UnspecifiedMatching MONDO:0010922 Satoyoshi syndrome skos:exactMatch Orphanet:3130 Satoyoshi syndrome semapv:UnspecifiedMatching MONDO:0010922 Satoyoshi syndrome skos:exactMatch SCTID:763630007 semapv:UnspecifiedMatching MONDO:0010922 Satoyoshi syndrome skos:exactMatch UMLS:C1833454 semapv:UnspecifiedMatching MONDO:0010922 Satoyoshi syndrome skos:exactMatch mesh:C536616 semapv:UnspecifiedMatching MONDO:0010923 proximal myopathy with focal depletion of mitochondria skos:exactMatch MEDGEN:318881 semapv:UnspecifiedMatching MONDO:0010923 proximal myopathy with focal depletion of mitochondria skos:exactMatch OMIM:600706 proximal myopathy with focal depletion of mitochondria semapv:UnspecifiedMatching MONDO:0010923 proximal myopathy with focal depletion of mitochondria skos:exactMatch Orphanet:521305 Proximal myopathy with focal depletion of mitochondria semapv:UnspecifiedMatching MONDO:0010923 proximal myopathy with focal depletion of mitochondria skos:exactMatch UMLS:C1833453 semapv:UnspecifiedMatching MONDO:0010923 proximal myopathy with focal depletion of mitochondria skos:exactMatch mesh:C563453 semapv:UnspecifiedMatching MONDO:0010924 D-2-hydroxyglutaric aciduria skos:exactMatch DOID:0050575 D-2-hydroxyglutaric aciduria semapv:UnspecifiedMatching MONDO:0010924 D-2-hydroxyglutaric aciduria skos:exactMatch MEDGEN:322192 semapv:UnspecifiedMatching MONDO:0010924 D-2-hydroxyglutaric aciduria skos:exactMatch OMIMPS:600721 D-2-hydroxyglutaric aciduria semapv:UnspecifiedMatching MONDO:0010924 D-2-hydroxyglutaric aciduria skos:exactMatch Orphanet:79315 D-2-hydroxyglutaric aciduria semapv:UnspecifiedMatching MONDO:0010924 D-2-hydroxyglutaric aciduria skos:exactMatch SCTID:237960000 semapv:UnspecifiedMatching MONDO:0010924 D-2-hydroxyglutaric aciduria skos:exactMatch UMLS:C1833429 semapv:UnspecifiedMatching MONDO:0010924 D-2-hydroxyglutaric aciduria skos:exactMatch icd11.foundation:1170122566 D-2-hydroxyglutaric aciduria semapv:UnspecifiedMatching MONDO:0010925 velo-facial-skeletal syndrome skos:exactMatch MEDGEN:322177 semapv:UnspecifiedMatching MONDO:0010925 velo-facial-skeletal syndrome skos:exactMatch OMIM:600736 velofacioskeletal syndrome semapv:UnspecifiedMatching MONDO:0010925 velo-facial-skeletal syndrome skos:exactMatch Orphanet:3424 Velo-facial-skeletal syndrome semapv:UnspecifiedMatching MONDO:0010925 velo-facial-skeletal syndrome skos:exactMatch SCTID:763616002 semapv:UnspecifiedMatching MONDO:0010925 velo-facial-skeletal syndrome skos:exactMatch UMLS:C1833380 semapv:UnspecifiedMatching MONDO:0010925 velo-facial-skeletal syndrome skos:exactMatch mesh:C536536 semapv:UnspecifiedMatching MONDO:0010926 familial hypocalciuric hypercalcemia 3 skos:exactMatch DOID:0060702 familial hypocalciuric hypercalcemia 3 semapv:UnspecifiedMatching MONDO:0010926 familial hypocalciuric hypercalcemia 3 skos:exactMatch MEDGEN:322173 semapv:UnspecifiedMatching MONDO:0010926 familial hypocalciuric hypercalcemia 3 skos:exactMatch OMIM:600740 hypocalciuric hypercalcemia, familial, type 3 semapv:UnspecifiedMatching MONDO:0010926 familial hypocalciuric hypercalcemia 3 skos:exactMatch Orphanet:101050 Familial hypocalciuric hypercalcemia type 3 semapv:UnspecifiedMatching MONDO:0010926 familial hypocalciuric hypercalcemia 3 skos:exactMatch UMLS:C1833372 semapv:UnspecifiedMatching MONDO:0010926 familial hypocalciuric hypercalcemia 3 skos:exactMatch mesh:C537147 semapv:UnspecifiedMatching MONDO:0010927 orofacial cleft 3 skos:exactMatch DOID:0080397 orofacial cleft 3 semapv:UnspecifiedMatching MONDO:0010927 orofacial cleft 3 skos:exactMatch MEDGEN:318860 semapv:UnspecifiedMatching MONDO:0010927 orofacial cleft 3 skos:exactMatch OMIM:600757 orofacial cleft 3 semapv:UnspecifiedMatching MONDO:0010927 orofacial cleft 3 skos:exactMatch UMLS:C1833369 semapv:UnspecifiedMatching MONDO:0010927 orofacial cleft 3 skos:exactMatch mesh:C563448 semapv:UnspecifiedMatching MONDO:0010928 dwarfism, familial, with muscle spasms skos:exactMatch MEDGEN:322168 semapv:UnspecifiedMatching MONDO:0010928 dwarfism, familial, with muscle spasms skos:exactMatch OMIM:600771 dwarfism, familial, with muscle spasms semapv:UnspecifiedMatching MONDO:0010928 dwarfism, familial, with muscle spasms skos:exactMatch UMLS:C1833341 semapv:UnspecifiedMatching MONDO:0010928 dwarfism, familial, with muscle spasms skos:exactMatch mesh:C563447 semapv:UnspecifiedMatching MONDO:0010929 craniosynostosis 4 skos:exactMatch DOID:0061012 craniosynostosis 4 semapv:UnspecifiedMatching MONDO:0010929 craniosynostosis 4 skos:exactMatch MEDGEN:813247 semapv:UnspecifiedMatching MONDO:0010929 craniosynostosis 4 skos:exactMatch OMIM:600775 craniosynostosis 4 semapv:UnspecifiedMatching MONDO:0010929 craniosynostosis 4 skos:exactMatch UMLS:C3806917 semapv:UnspecifiedMatching MONDO:0010930 anophthalmia plus syndrome skos:exactMatch MEDGEN:322166 semapv:UnspecifiedMatching MONDO:0010930 anophthalmia plus syndrome skos:exactMatch OMIM:600776 fryns microphthalmia syndrome semapv:UnspecifiedMatching MONDO:0010930 anophthalmia plus syndrome skos:exactMatch Orphanet:1104 Anophthalmia plus syndrome semapv:UnspecifiedMatching MONDO:0010930 anophthalmia plus syndrome skos:exactMatch SCTID:720496006 semapv:UnspecifiedMatching MONDO:0010930 anophthalmia plus syndrome skos:exactMatch UMLS:C1833339 semapv:UnspecifiedMatching MONDO:0010930 anophthalmia plus syndrome skos:exactMatch mesh:C537767 semapv:UnspecifiedMatching MONDO:0010931 vitamin D-dependent rickets, type 2B skos:exactMatch DOID:0080885 vitamin D-dependent rickets type 2B semapv:UnspecifiedMatching MONDO:0010931 vitamin D-dependent rickets, type 2B skos:exactMatch MEDGEN:411667 semapv:UnspecifiedMatching MONDO:0010931 vitamin D-dependent rickets, type 2B skos:exactMatch NCIT:C131076 Vitamin D Dependent Rickets 2b semapv:UnspecifiedMatching MONDO:0010931 vitamin D-dependent rickets, type 2B skos:exactMatch OMIM:600785 vitamin d-dependent rickets, type 2b, with normal vitamin d receptor semapv:UnspecifiedMatching MONDO:0010931 vitamin D-dependent rickets, type 2B skos:exactMatch SCTID:237895001 semapv:UnspecifiedMatching MONDO:0010931 vitamin D-dependent rickets, type 2B skos:exactMatch UMLS:C2748783 semapv:UnspecifiedMatching MONDO:0010932 progressive bifocal chorioretinal atrophy skos:exactMatch MEDGEN:371537 semapv:UnspecifiedMatching MONDO:0010932 progressive bifocal chorioretinal atrophy skos:exactMatch OMIM:600790 chorioretinal atrophy, progressive bifocal semapv:UnspecifiedMatching MONDO:0010932 progressive bifocal chorioretinal atrophy skos:exactMatch Orphanet:75373 Progressive bifocal chorioretinal atrophy semapv:UnspecifiedMatching MONDO:0010932 progressive bifocal chorioretinal atrophy skos:exactMatch SCTID:719266007 semapv:UnspecifiedMatching MONDO:0010932 progressive bifocal chorioretinal atrophy skos:exactMatch UMLS:C1833321 semapv:UnspecifiedMatching MONDO:0010932 progressive bifocal chorioretinal atrophy skos:exactMatch icd11.foundation:1936121929 Progressive bifocal chorioretinal atrophy semapv:UnspecifiedMatching MONDO:0010932 progressive bifocal chorioretinal atrophy skos:exactMatch mesh:C535356 semapv:UnspecifiedMatching MONDO:0010933 autosomal recessive nonsyndromic hearing loss 4 skos:exactMatch DOID:0110498 autosomal recessive nonsyndromic deafness 4 semapv:UnspecifiedMatching MONDO:0010933 autosomal recessive nonsyndromic hearing loss 4 skos:exactMatch MEDGEN:761234 semapv:UnspecifiedMatching MONDO:0010933 autosomal recessive nonsyndromic hearing loss 4 skos:exactMatch OMIM:600791 deafness, autosomal recessive 4, with enlarged vestibular aqueduct semapv:UnspecifiedMatching MONDO:0010933 autosomal recessive nonsyndromic hearing loss 4 skos:exactMatch UMLS:C3538946 semapv:UnspecifiedMatching MONDO:0010933 autosomal recessive nonsyndromic hearing loss 4 skos:exactMatch mesh:C566366 semapv:UnspecifiedMatching MONDO:0010936 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 skos:exactMatch DOID:0111227 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 semapv:UnspecifiedMatching MONDO:0010936 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 skos:exactMatch MEDGEN:318833 semapv:UnspecifiedMatching MONDO:0010936 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 skos:exactMatch OMIM:600795 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 semapv:UnspecifiedMatching MONDO:0010936 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 skos:exactMatch SCTID:702393003 semapv:UnspecifiedMatching MONDO:0010936 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 skos:exactMatch UMLS:C1833296 semapv:UnspecifiedMatching MONDO:0010936 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 skos:exactMatch mesh:C563708 semapv:UnspecifiedMatching MONDO:0010936 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 skos:exactMatch mesh:C579991 semapv:UnspecifiedMatching MONDO:0010937 isoproterenol-mediated vasodilatation skos:exactMatch MEDGEN:331475 semapv:UnspecifiedMatching MONDO:0010937 isoproterenol-mediated vasodilatation skos:exactMatch OMIM:600801 isoproterenol-mediated vasodilatation semapv:UnspecifiedMatching MONDO:0010937 isoproterenol-mediated vasodilatation skos:exactMatch UMLS:C1833276 semapv:UnspecifiedMatching MONDO:0010938 T-B+ severe combined immunodeficiency due to JAK3 deficiency skos:exactMatch MEDGEN:331474 semapv:UnspecifiedMatching MONDO:0010938 T-B+ severe combined immunodeficiency due to JAK3 deficiency skos:exactMatch OMIM:600802 severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-positive, nk cell-negative semapv:UnspecifiedMatching MONDO:0010938 T-B+ severe combined immunodeficiency due to JAK3 deficiency skos:exactMatch Orphanet:35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency semapv:UnspecifiedMatching MONDO:0010938 T-B+ severe combined immunodeficiency due to JAK3 deficiency skos:exactMatch SCTID:718107000 semapv:UnspecifiedMatching MONDO:0010938 T-B+ severe combined immunodeficiency due to JAK3 deficiency skos:exactMatch UMLS:C1833275 semapv:UnspecifiedMatching MONDO:0010938 T-B+ severe combined immunodeficiency due to JAK3 deficiency skos:exactMatch mesh:C563440 semapv:UnspecifiedMatching MONDO:0010939 gallbladder disease 1 skos:exactMatch MEDGEN:760527 semapv:UnspecifiedMatching MONDO:0010939 gallbladder disease 1 skos:exactMatch OMIM:600803 gallbladder disease 1 semapv:UnspecifiedMatching MONDO:0010939 gallbladder disease 1 skos:exactMatch Orphanet:69663 Low phospholipid-associated cholelithiasis semapv:UnspecifiedMatching MONDO:0010939 gallbladder disease 1 skos:exactMatch SCTID:715577009 semapv:UnspecifiedMatching MONDO:0010939 gallbladder disease 1 skos:exactMatch UMLS:C2609268 semapv:UnspecifiedMatching MONDO:0010939 gallbladder disease 1 skos:exactMatch icd11.foundation:1261516421 Low phospholipid associated cholelithiasis semapv:UnspecifiedMatching MONDO:0010940 inherited susceptibility to asthma skos:exactMatch MEDGEN:358271 semapv:UnspecifiedMatching MONDO:0010940 inherited susceptibility to asthma skos:exactMatch OMIM:600807 asthma, susceptibility to semapv:UnspecifiedMatching MONDO:0010940 inherited susceptibility to asthma skos:exactMatch UMLS:C1869116 semapv:UnspecifiedMatching MONDO:0010941 nocturnal enuresis, 2 skos:exactMatch MEDGEN:331473 semapv:UnspecifiedMatching MONDO:0010941 nocturnal enuresis, 2 skos:exactMatch OMIM:600808 enuresis, nocturnal, 2 semapv:UnspecifiedMatching MONDO:0010941 nocturnal enuresis, 2 skos:exactMatch UMLS:C1833268 semapv:UnspecifiedMatching MONDO:0010941 nocturnal enuresis, 2 skos:exactMatch mesh:C563439 semapv:UnspecifiedMatching MONDO:0010942 obsolete eukaryotic translation elongation factor 1 alpha-1-like 14 skos:exactMatch OMIM:600841 eukaryotic translation elongation factor 1 alpha-1-like 14 semapv:UnspecifiedMatching MONDO:0010943 schizophrenia 4 skos:exactMatch DOID:0070080 schizophrenia 4 semapv:UnspecifiedMatching MONDO:0010943 schizophrenia 4 skos:exactMatch MEDGEN:371517 semapv:UnspecifiedMatching MONDO:0010943 schizophrenia 4 skos:exactMatch OMIM:600850 schizophrenia 4 semapv:UnspecifiedMatching MONDO:0010943 schizophrenia 4 skos:exactMatch UMLS:C1833247 semapv:UnspecifiedMatching MONDO:0010944 mitochondrial import-stimulating factor skos:exactMatch MEDGEN:331468 semapv:UnspecifiedMatching MONDO:0010944 mitochondrial import-stimulating factor skos:exactMatch OMIM:600851 mitochondrial import-stimulating factor semapv:UnspecifiedMatching MONDO:0010944 mitochondrial import-stimulating factor skos:exactMatch UMLS:C1833246 semapv:UnspecifiedMatching MONDO:0010945 retinitis pigmentosa 17 skos:exactMatch DOID:0110404 retinitis pigmentosa 17 semapv:UnspecifiedMatching MONDO:0010945 retinitis pigmentosa 17 skos:exactMatch MEDGEN:322153 semapv:UnspecifiedMatching MONDO:0010945 retinitis pigmentosa 17 skos:exactMatch OMIM:600852 retinitis pigmentosa 17 semapv:UnspecifiedMatching MONDO:0010945 retinitis pigmentosa 17 skos:exactMatch UMLS:C1833245 semapv:UnspecifiedMatching MONDO:0010945 retinitis pigmentosa 17 skos:exactMatch mesh:C563437 semapv:UnspecifiedMatching MONDO:0010946 hypertrophic cardiomyopathy 6 skos:exactMatch DOID:0110312 hypertrophic cardiomyopathy 6 semapv:UnspecifiedMatching MONDO:0010946 hypertrophic cardiomyopathy 6 skos:exactMatch MEDGEN:331466 semapv:UnspecifiedMatching MONDO:0010946 hypertrophic cardiomyopathy 6 skos:exactMatch OMIM:600858 cardiomyopathy, familial hypertrophic, 6 semapv:UnspecifiedMatching MONDO:0010946 hypertrophic cardiomyopathy 6 skos:exactMatch UMLS:C1833236 semapv:UnspecifiedMatching MONDO:0010946 hypertrophic cardiomyopathy 6 skos:exactMatch mesh:C563436 semapv:UnspecifiedMatching MONDO:0010947 Budd-Chiari syndrome skos:exactMatch ICD10CM:I82.0 Budd-Chiari syndrome semapv:UnspecifiedMatching MONDO:0010947 Budd-Chiari syndrome skos:exactMatch MEDGEN:163632 semapv:UnspecifiedMatching MONDO:0010947 Budd-Chiari syndrome skos:exactMatch OMIM:600880 budd-chiari syndrome semapv:UnspecifiedMatching MONDO:0010947 Budd-Chiari syndrome skos:exactMatch Orphanet:131 Budd-Chiari syndrome semapv:UnspecifiedMatching MONDO:0010947 Budd-Chiari syndrome skos:exactMatch SCTID:82385007 semapv:UnspecifiedMatching MONDO:0010947 Budd-Chiari syndrome skos:exactMatch UMLS:C0856761 semapv:UnspecifiedMatching MONDO:0010947 Budd-Chiari syndrome skos:exactMatch icd11.foundation:1300118676 Budd-Chiari syndrome semapv:UnspecifiedMatching MONDO:0010947 Budd-Chiari syndrome skos:exactMatch mesh:D006502 semapv:UnspecifiedMatching MONDO:0010948 cataract 10 multiple types skos:exactMatch DOID:0110258 cataract 10 multiple types semapv:UnspecifiedMatching MONDO:0010948 cataract 10 multiple types skos:exactMatch MEDGEN:318817 semapv:UnspecifiedMatching MONDO:0010948 cataract 10 multiple types skos:exactMatch OMIM:600881 cataract 10, multiple types semapv:UnspecifiedMatching MONDO:0010948 cataract 10 multiple types skos:exactMatch UMLS:C1833229 semapv:UnspecifiedMatching MONDO:0010948 cataract 10 multiple types skos:exactMatch mesh:C563435 semapv:UnspecifiedMatching MONDO:0010949 Charcot-Marie-Tooth disease type 2B skos:exactMatch DOID:0110159 Charcot-Marie-Tooth disease type 2B semapv:UnspecifiedMatching MONDO:0010949 Charcot-Marie-Tooth disease type 2B skos:exactMatch MEDGEN:371512 semapv:UnspecifiedMatching MONDO:0010949 Charcot-Marie-Tooth disease type 2B skos:exactMatch OMIM:600882 charcot-marie-tooth disease, axonal, type 2b semapv:UnspecifiedMatching MONDO:0010949 Charcot-Marie-Tooth disease type 2B skos:exactMatch Orphanet:99936 Autosomal dominant Charcot-Marie-Tooth disease type 2B semapv:UnspecifiedMatching MONDO:0010949 Charcot-Marie-Tooth disease type 2B skos:exactMatch SCTID:717008005 semapv:UnspecifiedMatching MONDO:0010949 Charcot-Marie-Tooth disease type 2B skos:exactMatch UMLS:C1833219 semapv:UnspecifiedMatching MONDO:0010949 Charcot-Marie-Tooth disease type 2B skos:exactMatch icd11.foundation:1425224652 Charcot-Marie-Tooth disease type 2B semapv:UnspecifiedMatching MONDO:0010949 Charcot-Marie-Tooth disease type 2B skos:exactMatch mesh:C537989 semapv:UnspecifiedMatching MONDO:0010950 type 1 diabetes mellitus 8 skos:exactMatch DOID:0110747 type 1 diabetes mellitus 8 semapv:UnspecifiedMatching MONDO:0010950 type 1 diabetes mellitus 8 skos:exactMatch MEDGEN:331462 semapv:UnspecifiedMatching MONDO:0010950 type 1 diabetes mellitus 8 skos:exactMatch OMIM:600883 type 1 diabetes mellitus 8 semapv:UnspecifiedMatching MONDO:0010950 type 1 diabetes mellitus 8 skos:exactMatch UMLS:C1833218 semapv:UnspecifiedMatching MONDO:0010950 type 1 diabetes mellitus 8 skos:exactMatch mesh:C563433 semapv:UnspecifiedMatching MONDO:0010951 dilated cardiomyopathy 1B skos:exactMatch DOID:0110443 dilated cardiomyopathy 1B semapv:UnspecifiedMatching MONDO:0010951 dilated cardiomyopathy 1B skos:exactMatch MEDGEN:1814491 semapv:UnspecifiedMatching MONDO:0010951 dilated cardiomyopathy 1B skos:exactMatch OMIM:600884 cardiomyopathy, dilated, 1b semapv:UnspecifiedMatching MONDO:0010951 dilated cardiomyopathy 1B skos:exactMatch UMLS:C5700078 semapv:UnspecifiedMatching MONDO:0010952 hereditary hyperferritinemia with congenital cataracts skos:exactMatch DOID:0111256 hyperferritinemia-cataract syndrome semapv:UnspecifiedMatching MONDO:0010952 hereditary hyperferritinemia with congenital cataracts skos:exactMatch MEDGEN:318812 semapv:UnspecifiedMatching MONDO:0010952 hereditary hyperferritinemia with congenital cataracts skos:exactMatch OMIM:600886 hyperferritinemia with or without cataract semapv:UnspecifiedMatching MONDO:0010952 hereditary hyperferritinemia with congenital cataracts skos:exactMatch Orphanet:163 Hereditary hyperferritinemia-cataract syndrome semapv:UnspecifiedMatching MONDO:0010952 hereditary hyperferritinemia with congenital cataracts skos:exactMatch SCTID:702398007 semapv:UnspecifiedMatching MONDO:0010952 hereditary hyperferritinemia with congenital cataracts skos:exactMatch UMLS:C1833213 semapv:UnspecifiedMatching MONDO:0010952 hereditary hyperferritinemia with congenital cataracts skos:exactMatch mesh:C538137 semapv:UnspecifiedMatching MONDO:0010953 Fanconi anemia complementation group E skos:exactMatch DOID:0111084 Fanconi anemia complementation group E semapv:UnspecifiedMatching MONDO:0010953 Fanconi anemia complementation group E skos:exactMatch MEDGEN:463628 semapv:UnspecifiedMatching MONDO:0010953 Fanconi anemia complementation group E skos:exactMatch NCIT:C125709 Fanconi Anemia, Complementation Group E semapv:UnspecifiedMatching MONDO:0010953 Fanconi anemia complementation group E skos:exactMatch OMIM:600901 fanconi anemia, complementation group e semapv:UnspecifiedMatching MONDO:0010953 Fanconi anemia complementation group E skos:exactMatch UMLS:C3160739 semapv:UnspecifiedMatching MONDO:0010954 Wiskott-Aldrich syndrome, autosomal dominant form skos:exactMatch MEDGEN:1783558 semapv:UnspecifiedMatching MONDO:0010954 Wiskott-Aldrich syndrome, autosomal dominant form skos:exactMatch OMIM:600903 wiskott-aldrich syndrome, autosomal dominant semapv:UnspecifiedMatching MONDO:0010954 Wiskott-Aldrich syndrome, autosomal dominant form skos:exactMatch UMLS:C5542398 semapv:UnspecifiedMatching MONDO:0010954 Wiskott-Aldrich syndrome, autosomal dominant form skos:exactMatch mesh:C563431 semapv:UnspecifiedMatching MONDO:0010955 ectodermal dysplasia with intellectual disability and syndactyly skos:exactMatch MEDGEN:322135 semapv:UnspecifiedMatching MONDO:0010955 ectodermal dysplasia with intellectual disability and syndactyly skos:exactMatch OMIM:600906 ectodermal dysplasia with impaired intellectual development and syndactyly semapv:UnspecifiedMatching MONDO:0010955 ectodermal dysplasia with intellectual disability and syndactyly skos:exactMatch UMLS:C1833169 semapv:UnspecifiedMatching MONDO:0010955 ectodermal dysplasia with intellectual disability and syndactyly skos:exactMatch mesh:C538018 semapv:UnspecifiedMatching MONDO:0010956 enamel hypoplasia, cataracts, and aqueductal stenosis skos:exactMatch MEDGEN:371497 semapv:UnspecifiedMatching MONDO:0010956 enamel hypoplasia, cataracts, and aqueductal stenosis skos:exactMatch OMIM:600907 enamel hypoplasia, cataracts, and aqueductal stenosis semapv:UnspecifiedMatching MONDO:0010956 enamel hypoplasia, cataracts, and aqueductal stenosis skos:exactMatch UMLS:C1833163 semapv:UnspecifiedMatching MONDO:0010956 enamel hypoplasia, cataracts, and aqueductal stenosis skos:exactMatch mesh:C563430 semapv:UnspecifiedMatching MONDO:0010958 cardiac arrhythmia, ankyrin-B-related skos:exactMatch DOID:0111700 ankyrin-B-related cardiac arrhythmia semapv:UnspecifiedMatching MONDO:0010958 cardiac arrhythmia, ankyrin-B-related skos:exactMatch DOID:0111701 long QT syndrome 4 semapv:UnspecifiedMatching MONDO:0010958 cardiac arrhythmia, ankyrin-B-related skos:exactMatch MEDGEN:370181 semapv:UnspecifiedMatching MONDO:0010958 cardiac arrhythmia, ankyrin-B-related skos:exactMatch OMIM:600919 cardiac arrhythmia, ankyrin-b-related semapv:UnspecifiedMatching MONDO:0010958 cardiac arrhythmia, ankyrin-B-related skos:exactMatch SCTID:764457005 semapv:UnspecifiedMatching MONDO:0010958 cardiac arrhythmia, ankyrin-B-related skos:exactMatch UMLS:C1970119 semapv:UnspecifiedMatching MONDO:0010959 van den Ende-Gupta syndrome skos:exactMatch DOID:0111699 Van den Ende-Gupta syndrome semapv:UnspecifiedMatching MONDO:0010959 van den Ende-Gupta syndrome skos:exactMatch MEDGEN:322127 semapv:UnspecifiedMatching MONDO:0010959 van den Ende-Gupta syndrome skos:exactMatch OMIM:600920 van den ende-gupta syndrome semapv:UnspecifiedMatching MONDO:0010959 van den Ende-Gupta syndrome skos:exactMatch Orphanet:2460 Van den Ende-Gupta syndrome semapv:UnspecifiedMatching MONDO:0010959 van den Ende-Gupta syndrome skos:exactMatch SCTID:719845008 semapv:UnspecifiedMatching MONDO:0010959 van den Ende-Gupta syndrome skos:exactMatch UMLS:C1833136 semapv:UnspecifiedMatching MONDO:0010959 van den Ende-Gupta syndrome skos:exactMatch icd11.foundation:1740735985 Van den Ende-Gupta syndrome semapv:UnspecifiedMatching MONDO:0010959 van den Ende-Gupta syndrome skos:exactMatch mesh:C535909 semapv:UnspecifiedMatching MONDO:0010960 protocadherin 3 skos:exactMatch MEDGEN:371487 semapv:UnspecifiedMatching MONDO:0010960 protocadherin 3 skos:exactMatch OMIM:600931 protocadherin 3 semapv:UnspecifiedMatching MONDO:0010960 protocadherin 3 skos:exactMatch UMLS:C1833117 semapv:UnspecifiedMatching MONDO:0010961 obesity due to prohormone convertase I deficiency skos:exactMatch DOID:0111698 proprotein convertase 1/3 deficiency semapv:UnspecifiedMatching MONDO:0010961 obesity due to prohormone convertase I deficiency skos:exactMatch MEDGEN:318777 semapv:UnspecifiedMatching MONDO:0010961 obesity due to prohormone convertase I deficiency skos:exactMatch OMIM:600955 proprotein convertase 1/3 deficiency semapv:UnspecifiedMatching MONDO:0010961 obesity due to prohormone convertase I deficiency skos:exactMatch Orphanet:71528 Obesity due to prohormone convertase I deficiency semapv:UnspecifiedMatching MONDO:0010961 obesity due to prohormone convertase I deficiency skos:exactMatch SCTID:722053001 semapv:UnspecifiedMatching MONDO:0010961 obesity due to prohormone convertase I deficiency skos:exactMatch UMLS:C1833053 semapv:UnspecifiedMatching MONDO:0010961 obesity due to prohormone convertase I deficiency skos:exactMatch mesh:C563423 semapv:UnspecifiedMatching MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma skos:exactMatch DOID:0050428 nonepidermolytic palmoplantar keratoderma semapv:UnspecifiedMatching MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma skos:exactMatch DOID:0070550 KRT1-related nonepidermolytic palmoplantar keratoderma semapv:UnspecifiedMatching MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma skos:exactMatch MEDGEN:371463 semapv:UnspecifiedMatching MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma skos:exactMatch OMIM:600962 palmoplantar keratoderma, nonepidermolytic semapv:UnspecifiedMatching MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma skos:exactMatch Orphanet:530838 KRT1-related diffuse nonepidermolytic keratoderma semapv:UnspecifiedMatching MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma skos:exactMatch SCTID:716105001 semapv:UnspecifiedMatching MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma skos:exactMatch UMLS:C1833030 semapv:UnspecifiedMatching MONDO:0010963 autosomal dominant nonsyndromic hearing loss 6 skos:exactMatch DOID:0110584 autosomal dominant nonsyndromic deafness 6 semapv:UnspecifiedMatching MONDO:0010963 autosomal dominant nonsyndromic hearing loss 6 skos:exactMatch MEDGEN:331419 semapv:UnspecifiedMatching MONDO:0010963 autosomal dominant nonsyndromic hearing loss 6 skos:exactMatch OMIM:600965 deafness, autosomal dominant 6 semapv:UnspecifiedMatching MONDO:0010963 autosomal dominant nonsyndromic hearing loss 6 skos:exactMatch UMLS:C1833021 semapv:UnspecifiedMatching MONDO:0010963 autosomal dominant nonsyndromic hearing loss 6 skos:exactMatch mesh:C563421 semapv:UnspecifiedMatching MONDO:0010964 epiphyseal dysplasia, multiple, 3 skos:exactMatch DOID:0070304 multiple epiphyseal dysplasia 3 semapv:UnspecifiedMatching MONDO:0010964 epiphyseal dysplasia, multiple, 3 skos:exactMatch MEDGEN:322091 semapv:UnspecifiedMatching MONDO:0010964 epiphyseal dysplasia, multiple, 3 skos:exactMatch OMIM:600969 epiphyseal dysplasia, multiple, 3 semapv:UnspecifiedMatching MONDO:0010964 epiphyseal dysplasia, multiple, 3 skos:exactMatch UMLS:C1832998 semapv:UnspecifiedMatching MONDO:0010964 epiphyseal dysplasia, multiple, 3 skos:exactMatch mesh:C535503 semapv:UnspecifiedMatching MONDO:0010965 autosomal recessive nonsyndromic hearing loss 6 skos:exactMatch DOID:0110512 autosomal recessive nonsyndromic deafness 6 semapv:UnspecifiedMatching MONDO:0010965 autosomal recessive nonsyndromic hearing loss 6 skos:exactMatch MEDGEN:322088 semapv:UnspecifiedMatching MONDO:0010965 autosomal recessive nonsyndromic hearing loss 6 skos:exactMatch OMIM:600971 deafness, autosomal recessive 6 semapv:UnspecifiedMatching MONDO:0010965 autosomal recessive nonsyndromic hearing loss 6 skos:exactMatch UMLS:C1832992 semapv:UnspecifiedMatching MONDO:0010965 autosomal recessive nonsyndromic hearing loss 6 skos:exactMatch mesh:C563418 semapv:UnspecifiedMatching MONDO:0010966 achondrogenesis type IB skos:exactMatch DOID:0080055 achondrogenesis type IB semapv:UnspecifiedMatching MONDO:0010966 achondrogenesis type IB skos:exactMatch MEDGEN:78547 semapv:UnspecifiedMatching MONDO:0010966 achondrogenesis type IB skos:exactMatch OMIM:600972 achondrogenesis, type 1b semapv:UnspecifiedMatching MONDO:0010966 achondrogenesis type IB skos:exactMatch Orphanet:93298 Achondrogenesis type 1B semapv:UnspecifiedMatching MONDO:0010966 achondrogenesis type IB skos:exactMatch UMLS:C0265274 semapv:UnspecifiedMatching MONDO:0010967 autosomal recessive nonsyndromic hearing loss 7 skos:exactMatch DOID:0110520 autosomal recessive nonsyndromic deafness 7 semapv:UnspecifiedMatching MONDO:0010967 autosomal recessive nonsyndromic hearing loss 7 skos:exactMatch MEDGEN:322084 semapv:UnspecifiedMatching MONDO:0010967 autosomal recessive nonsyndromic hearing loss 7 skos:exactMatch OMIM:600974 deafness, autosomal recessive 7 semapv:UnspecifiedMatching MONDO:0010967 autosomal recessive nonsyndromic hearing loss 7 skos:exactMatch UMLS:C1832978 semapv:UnspecifiedMatching MONDO:0010967 autosomal recessive nonsyndromic hearing loss 7 skos:exactMatch mesh:C563417 semapv:UnspecifiedMatching MONDO:0010968 glaucoma 3, primary infantile, B skos:exactMatch MEDGEN:331409 semapv:UnspecifiedMatching MONDO:0010968 glaucoma 3, primary infantile, B skos:exactMatch OMIM:600975 glaucoma 3, primary infantile, B semapv:UnspecifiedMatching MONDO:0010968 glaucoma 3, primary infantile, B skos:exactMatch UMLS:C1832977 semapv:UnspecifiedMatching MONDO:0010968 glaucoma 3, primary infantile, B skos:exactMatch mesh:C536824 semapv:UnspecifiedMatching MONDO:0010969 cone-rod dystrophy 5 skos:exactMatch DOID:0111010 cone-rod dystrophy 5 semapv:UnspecifiedMatching MONDO:0010969 cone-rod dystrophy 5 skos:exactMatch MEDGEN:322083 semapv:UnspecifiedMatching MONDO:0010969 cone-rod dystrophy 5 skos:exactMatch OMIM:600977 cone-rod dystrophy 5 semapv:UnspecifiedMatching MONDO:0010969 cone-rod dystrophy 5 skos:exactMatch UMLS:C1832976 semapv:UnspecifiedMatching MONDO:0010969 cone-rod dystrophy 5 skos:exactMatch mesh:C563415 semapv:UnspecifiedMatching MONDO:0010970 cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies skos:exactMatch DOID:0111697 cleft palate, cardiac defects, and intellectual disability semapv:UnspecifiedMatching MONDO:0010970 cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies skos:exactMatch MEDGEN:318752 semapv:UnspecifiedMatching MONDO:0010970 cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies skos:exactMatch OMIM:600987 cleft palate, cardiac defects, and impaired intellectual development semapv:UnspecifiedMatching MONDO:0010970 cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies skos:exactMatch UMLS:C1832950 semapv:UnspecifiedMatching MONDO:0010970 cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies skos:exactMatch mesh:C563414 semapv:UnspecifiedMatching MONDO:0010971 infundibulopelvic stenosis-multicystic kidney syndrome skos:exactMatch MEDGEN:318751 semapv:UnspecifiedMatching MONDO:0010971 infundibulopelvic stenosis-multicystic kidney syndrome skos:exactMatch OMIM:600989 infundibulopelvic dysgenesis semapv:UnspecifiedMatching MONDO:0010971 infundibulopelvic stenosis-multicystic kidney syndrome skos:exactMatch SCTID:725905005 semapv:UnspecifiedMatching MONDO:0010971 infundibulopelvic stenosis-multicystic kidney syndrome skos:exactMatch UMLS:C1832949 semapv:UnspecifiedMatching MONDO:0010971 infundibulopelvic stenosis-multicystic kidney syndrome skos:exactMatch mesh:C535528 semapv:UnspecifiedMatching MONDO:0010972 hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome skos:exactMatch MEDGEN:764174 semapv:UnspecifiedMatching MONDO:0010972 hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome skos:exactMatch OMIM:600991 hydrocephalus, sprengel anomaly, and costovertebral dysplasia semapv:UnspecifiedMatching MONDO:0010972 hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome skos:exactMatch Orphanet:2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome semapv:UnspecifiedMatching MONDO:0010972 hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome skos:exactMatch SCTID:721229003 semapv:UnspecifiedMatching MONDO:0010972 hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome skos:exactMatch UMLS:C3551260 semapv:UnspecifiedMatching MONDO:0010972 hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome skos:exactMatch mesh:C536461 semapv:UnspecifiedMatching MONDO:0010973 autosomal dominant nonsyndromic hearing loss 5 skos:exactMatch DOID:0110575 autosomal dominant nonsyndromic deafness 5 semapv:UnspecifiedMatching MONDO:0010973 autosomal dominant nonsyndromic hearing loss 5 skos:exactMatch MEDGEN:331398 semapv:UnspecifiedMatching MONDO:0010973 autosomal dominant nonsyndromic hearing loss 5 skos:exactMatch OMIM:600994 deafness, autosomal dominant 5 semapv:UnspecifiedMatching MONDO:0010973 autosomal dominant nonsyndromic hearing loss 5 skos:exactMatch UMLS:C1832932 semapv:UnspecifiedMatching MONDO:0010973 autosomal dominant nonsyndromic hearing loss 5 skos:exactMatch mesh:C563410 semapv:UnspecifiedMatching MONDO:0010974 nephrotic syndrome, type 2 skos:exactMatch DOID:0080379 nephrotic syndrome type 2 semapv:UnspecifiedMatching MONDO:0010974 nephrotic syndrome, type 2 skos:exactMatch MEDGEN:358380 semapv:UnspecifiedMatching MONDO:0010974 nephrotic syndrome, type 2 skos:exactMatch OMIM:600995 nephrotic syndrome, type 2 semapv:UnspecifiedMatching MONDO:0010974 nephrotic syndrome, type 2 skos:exactMatch UMLS:C1868672 semapv:UnspecifiedMatching MONDO:0010976 epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive skos:exactMatch MEDGEN:811576 semapv:UnspecifiedMatching MONDO:0010976 epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive skos:exactMatch OMIM:601001 epidermolysis bullosa simplex 1d, generalized, intermediate or severe, autosomal recessive semapv:UnspecifiedMatching MONDO:0010976 epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive skos:exactMatch Orphanet:89838 Autosomal recessive generalized epidermolysis bullosa simplex semapv:UnspecifiedMatching MONDO:0010976 epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive skos:exactMatch UMLS:C3715082 semapv:UnspecifiedMatching MONDO:0010976 epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive skos:exactMatch mesh:C563408 semapv:UnspecifiedMatching MONDO:0010977 Brody myopathy skos:exactMatch DOID:0050692 Brody myopathy semapv:UnspecifiedMatching MONDO:0010977 Brody myopathy skos:exactMatch MEDGEN:371441 semapv:UnspecifiedMatching MONDO:0010977 Brody myopathy skos:exactMatch OMIM:601003 brody disease semapv:UnspecifiedMatching MONDO:0010977 Brody myopathy skos:exactMatch Orphanet:53347 Brody myopathy semapv:UnspecifiedMatching MONDO:0010977 Brody myopathy skos:exactMatch SCTID:703530005 semapv:UnspecifiedMatching MONDO:0010977 Brody myopathy skos:exactMatch UMLS:C1832918 semapv:UnspecifiedMatching MONDO:0010977 Brody myopathy skos:exactMatch mesh:C536607 semapv:UnspecifiedMatching MONDO:0010978 portal vein, cavernous transformation of skos:exactMatch MEDGEN:331396 semapv:UnspecifiedMatching MONDO:0010978 portal vein, cavernous transformation of skos:exactMatch OMIM:601004 portal vein, cavernous transformation of semapv:UnspecifiedMatching MONDO:0010978 portal vein, cavernous transformation of skos:exactMatch UMLS:C1832917 semapv:UnspecifiedMatching MONDO:0010978 portal vein, cavernous transformation of skos:exactMatch mesh:C563407 semapv:UnspecifiedMatching MONDO:0010979 Timothy syndrome skos:exactMatch DOID:0060173 Timothy syndrome semapv:UnspecifiedMatching MONDO:0010979 Timothy syndrome skos:exactMatch MEDGEN:331395 semapv:UnspecifiedMatching MONDO:0010979 Timothy syndrome skos:exactMatch NCIT:C142894 Long QT Syndrome 8 semapv:UnspecifiedMatching MONDO:0010979 Timothy syndrome skos:exactMatch OMIM:601005 timothy syndrome semapv:UnspecifiedMatching MONDO:0010979 Timothy syndrome skos:exactMatch Orphanet:65283 Timothy syndrome semapv:UnspecifiedMatching MONDO:0010979 Timothy syndrome skos:exactMatch UMLS:C1832916 semapv:UnspecifiedMatching MONDO:0010979 Timothy syndrome skos:exactMatch mesh:C536962 semapv:UnspecifiedMatching MONDO:0010980 midline malformations, multiple, with limb abnormalities and hypopituitarism skos:exactMatch MEDGEN:371431 semapv:UnspecifiedMatching MONDO:0010980 midline malformations, multiple, with limb abnormalities and hypopituitarism skos:exactMatch OMIM:601016 midline malformations, multiple, with limb abnormalities and hypopituitarism semapv:UnspecifiedMatching MONDO:0010980 midline malformations, multiple, with limb abnormalities and hypopituitarism skos:exactMatch UMLS:C1832874 semapv:UnspecifiedMatching MONDO:0010980 midline malformations, multiple, with limb abnormalities and hypopituitarism skos:exactMatch mesh:C536177 semapv:UnspecifiedMatching MONDO:0010981 absent tibia-polydactyly-arachnoid cyst syndrome skos:exactMatch MEDGEN:318725 semapv:UnspecifiedMatching MONDO:0010981 absent tibia-polydactyly-arachnoid cyst syndrome skos:exactMatch OMIM:601027 tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies semapv:UnspecifiedMatching MONDO:0010981 absent tibia-polydactyly-arachnoid cyst syndrome skos:exactMatch Orphanet:3328 Absent tibia-polydactyly-arachnoid cyst syndrome semapv:UnspecifiedMatching MONDO:0010981 absent tibia-polydactyly-arachnoid cyst syndrome skos:exactMatch SCTID:733068001 semapv:UnspecifiedMatching MONDO:0010981 absent tibia-polydactyly-arachnoid cyst syndrome skos:exactMatch UMLS:C1832859 semapv:UnspecifiedMatching MONDO:0010981 absent tibia-polydactyly-arachnoid cyst syndrome skos:exactMatch mesh:C563403 semapv:UnspecifiedMatching MONDO:0010982 ichthyosis-intellectual disability syndrome with large keratohyalin granules in the skin skos:exactMatch MEDGEN:318724 semapv:UnspecifiedMatching MONDO:0010982 ichthyosis-intellectual disability syndrome with large keratohyalin granules in the skin skos:exactMatch OMIM:601039 ichthyosis-impaired intellectual developmental syndrome with large keratohyalin granules 1n the skin semapv:UnspecifiedMatching MONDO:0010982 ichthyosis-intellectual disability syndrome with large keratohyalin granules in the skin skos:exactMatch UMLS:C1832858 semapv:UnspecifiedMatching MONDO:0010982 ichthyosis-intellectual disability syndrome with large keratohyalin granules in the skin skos:exactMatch mesh:C563402 semapv:UnspecifiedMatching MONDO:0010983 dystonia 9 skos:exactMatch DOID:0090044 dystonia 9 semapv:UnspecifiedMatching MONDO:0010983 dystonia 9 skos:exactMatch MEDGEN:371427 semapv:UnspecifiedMatching MONDO:0010983 dystonia 9 skos:exactMatch OMIM:601042 dystonia 9 semapv:UnspecifiedMatching MONDO:0010983 dystonia 9 skos:exactMatch Orphanet:53583 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity semapv:UnspecifiedMatching MONDO:0010983 dystonia 9 skos:exactMatch SCTID:715564000 semapv:UnspecifiedMatching MONDO:0010983 dystonia 9 skos:exactMatch UMLS:C1832855 semapv:UnspecifiedMatching MONDO:0010983 dystonia 9 skos:exactMatch mesh:C563401 semapv:UnspecifiedMatching MONDO:0010984 Usher syndrome type 1D skos:exactMatch DOID:0110831 Usher syndrome type 1D semapv:UnspecifiedMatching MONDO:0010984 Usher syndrome type 1D skos:exactMatch MEDGEN:322051 semapv:UnspecifiedMatching MONDO:0010984 Usher syndrome type 1D skos:exactMatch OMIM:601067 usher syndrome, type 1d semapv:UnspecifiedMatching MONDO:0010984 Usher syndrome type 1D skos:exactMatch UMLS:C1832845 semapv:UnspecifiedMatching MONDO:0010985 epilepsy, familial adult myoclonic, 1 skos:exactMatch DOID:0111690 familial adult myoclonic epilepsy 1 semapv:UnspecifiedMatching MONDO:0010985 epilepsy, familial adult myoclonic, 1 skos:exactMatch MEDGEN:371424 semapv:UnspecifiedMatching MONDO:0010985 epilepsy, familial adult myoclonic, 1 skos:exactMatch OMIM:601068 epilepsy, familial adult myoclonic, 1 semapv:UnspecifiedMatching MONDO:0010985 epilepsy, familial adult myoclonic, 1 skos:exactMatch UMLS:C1832841 semapv:UnspecifiedMatching MONDO:0010985 epilepsy, familial adult myoclonic, 1 skos:exactMatch mesh:C563399 semapv:UnspecifiedMatching MONDO:0010986 autosomal recessive nonsyndromic hearing loss 9 skos:exactMatch DOID:0110535 autosomal recessive nonsyndromic deafness 9 semapv:UnspecifiedMatching MONDO:0010986 autosomal recessive nonsyndromic hearing loss 9 skos:exactMatch MEDGEN:331376 semapv:UnspecifiedMatching MONDO:0010986 autosomal recessive nonsyndromic hearing loss 9 skos:exactMatch OMIM:601071 deafness, autosomal recessive 9 semapv:UnspecifiedMatching MONDO:0010986 autosomal recessive nonsyndromic hearing loss 9 skos:exactMatch UMLS:C1832828 semapv:UnspecifiedMatching MONDO:0010987 autosomal recessive nonsyndromic hearing loss 8 skos:exactMatch DOID:0110527 autosomal recessive nonsyndromic deafness 8 semapv:UnspecifiedMatching MONDO:0010987 autosomal recessive nonsyndromic hearing loss 8 skos:exactMatch MEDGEN:322046 semapv:UnspecifiedMatching MONDO:0010987 autosomal recessive nonsyndromic hearing loss 8 skos:exactMatch OMIM:601072 deafness, autosomal recessive 8 semapv:UnspecifiedMatching MONDO:0010987 autosomal recessive nonsyndromic hearing loss 8 skos:exactMatch UMLS:C1832827 semapv:UnspecifiedMatching MONDO:0010988 aplasia cutis-myopia syndrome skos:exactMatch MEDGEN:331375 semapv:UnspecifiedMatching MONDO:0010988 aplasia cutis-myopia syndrome skos:exactMatch OMIM:601075 aplasia cutis congenita, high myopia, and cone-rod dysfunction semapv:UnspecifiedMatching MONDO:0010988 aplasia cutis-myopia syndrome skos:exactMatch Orphanet:1117 Aplasia cutis-myopia syndrome semapv:UnspecifiedMatching MONDO:0010988 aplasia cutis-myopia syndrome skos:exactMatch SCTID:720499004 semapv:UnspecifiedMatching MONDO:0010988 aplasia cutis-myopia syndrome skos:exactMatch UMLS:C1832826 semapv:UnspecifiedMatching MONDO:0010988 aplasia cutis-myopia syndrome skos:exactMatch mesh:C563394 semapv:UnspecifiedMatching MONDO:0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 skos:exactMatch DOID:0112179 Mayer-Rokitansky-Kuster-Hauser syndrome type 2 semapv:UnspecifiedMatching MONDO:0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 skos:exactMatch MEDGEN:931237 semapv:UnspecifiedMatching MONDO:0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 skos:exactMatch OMIM:601076 mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies semapv:UnspecifiedMatching MONDO:0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 skos:exactMatch Orphanet:2578 Mayer-Rokitansky-Küster-Hauser syndrome type 2 semapv:UnspecifiedMatching MONDO:0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 skos:exactMatch SCTID:717705004 semapv:UnspecifiedMatching MONDO:0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 skos:exactMatch UMLS:C4305568 semapv:UnspecifiedMatching MONDO:0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 skos:exactMatch icd11.foundation:1521808255 MURCS association semapv:UnspecifiedMatching MONDO:0010990 obsolete Cd4/CD8 T-cell ratio skos:exactMatch OMIM:601083 cd4/cd8 t-cell ratio semapv:UnspecifiedMatching MONDO:0010991 laterality defects, autosomal dominant skos:exactMatch MEDGEN:322042 semapv:UnspecifiedMatching MONDO:0010991 laterality defects, autosomal dominant skos:exactMatch OMIM:601086 laterality defects, autosomal dominant semapv:UnspecifiedMatching MONDO:0010991 laterality defects, autosomal dominant skos:exactMatch UMLS:C1832813 semapv:UnspecifiedMatching MONDO:0010991 laterality defects, autosomal dominant skos:exactMatch mesh:C563391 semapv:UnspecifiedMatching MONDO:0010992 Ayme-Gripp syndrome skos:exactMatch DOID:0111688 Ayme-Gripp syndrome semapv:UnspecifiedMatching MONDO:0010992 Ayme-Gripp syndrome skos:exactMatch MEDGEN:371416 semapv:UnspecifiedMatching MONDO:0010992 Ayme-Gripp syndrome skos:exactMatch OMIM:601088 ayme-gripp syndrome semapv:UnspecifiedMatching MONDO:0010992 Ayme-Gripp syndrome skos:exactMatch UMLS:C1832812 semapv:UnspecifiedMatching MONDO:0010992 Ayme-Gripp syndrome skos:exactMatch mesh:C563390 semapv:UnspecifiedMatching MONDO:0010993 Harrod syndrome skos:exactMatch MEDGEN:162895 semapv:UnspecifiedMatching MONDO:0010993 Harrod syndrome skos:exactMatch OMIM:601095 harrod syndrome semapv:UnspecifiedMatching MONDO:0010993 Harrod syndrome skos:exactMatch Orphanet:2115 Harrod syndrome semapv:UnspecifiedMatching MONDO:0010993 Harrod syndrome skos:exactMatch SCTID:716089008 semapv:UnspecifiedMatching MONDO:0010993 Harrod syndrome skos:exactMatch UMLS:C0795970 semapv:UnspecifiedMatching MONDO:0010993 Harrod syndrome skos:exactMatch mesh:C535635 semapv:UnspecifiedMatching MONDO:0010994 obsolete micromelic dwarfism, Fryns type skos:exactMatch OMIM:601096 spondyloepimetaphyseal dysplasia, micromelic semapv:UnspecifiedMatching MONDO:0010994 obsolete micromelic dwarfism, Fryns type skos:exactMatch Orphanet:2641 OBSOLETE: Micromelic dwarfism, Fryns type semapv:UnspecifiedMatching MONDO:0010994 obsolete micromelic dwarfism, Fryns type skos:exactMatch SCTID:715479009 semapv:UnspecifiedMatching MONDO:0010994 obsolete micromelic dwarfism, Fryns type skos:exactMatch mesh:C537556 semapv:UnspecifiedMatching MONDO:0010995 Charcot-Marie-Tooth disease type 1C skos:exactMatch DOID:0110151 Charcot-Marie-Tooth disease type 1C semapv:UnspecifiedMatching MONDO:0010995 Charcot-Marie-Tooth disease type 1C skos:exactMatch MEDGEN:75728 semapv:UnspecifiedMatching MONDO:0010995 Charcot-Marie-Tooth disease type 1C skos:exactMatch OMIM:601098 charcot-marie-tooth disease, demyelinating, type 1c semapv:UnspecifiedMatching MONDO:0010995 Charcot-Marie-Tooth disease type 1C skos:exactMatch Orphanet:101083 Charcot-Marie-Tooth disease type 1C semapv:UnspecifiedMatching MONDO:0010995 Charcot-Marie-Tooth disease type 1C skos:exactMatch UMLS:C0270913 semapv:UnspecifiedMatching MONDO:0010995 Charcot-Marie-Tooth disease type 1C skos:exactMatch icd11.foundation:1224517226 Charcot-Marie-Tooth disease type 1C semapv:UnspecifiedMatching MONDO:0010995 Charcot-Marie-Tooth disease type 1C skos:exactMatch mesh:C537984 semapv:UnspecifiedMatching MONDO:0010996 hereditary hemorrhagic telangiectasia type 3 skos:exactMatch MEDGEN:371403 semapv:UnspecifiedMatching MONDO:0010996 hereditary hemorrhagic telangiectasia type 3 skos:exactMatch UMLS:C1832774 semapv:UnspecifiedMatching MONDO:0010996 hereditary hemorrhagic telangiectasia type 3 skos:exactMatch mesh:C537140 semapv:UnspecifiedMatching MONDO:0010997 supranuclear palsy, progressive, 1 skos:exactMatch MEDGEN:1640811 semapv:UnspecifiedMatching MONDO:0010997 supranuclear palsy, progressive, 1 skos:exactMatch OMIM:601104 supranuclear palsy, progressive, 1 semapv:UnspecifiedMatching MONDO:0010997 supranuclear palsy, progressive, 1 skos:exactMatch Orphanet:240071 Classic progressive supranuclear palsy syndrome semapv:UnspecifiedMatching MONDO:0010997 supranuclear palsy, progressive, 1 skos:exactMatch UMLS:C4551863 semapv:UnspecifiedMatching MONDO:0010998 ALG3-congenital disorder of glycosylation skos:exactMatch DOID:0080556 congenital disorder of glycosylation Id semapv:UnspecifiedMatching MONDO:0010998 ALG3-congenital disorder of glycosylation skos:exactMatch MEDGEN:322026 semapv:UnspecifiedMatching MONDO:0010998 ALG3-congenital disorder of glycosylation skos:exactMatch NCIT:C126870 Congenital Disorder of Glycosylation Type Id semapv:UnspecifiedMatching MONDO:0010998 ALG3-congenital disorder of glycosylation skos:exactMatch OMIM:601110 congenital disorder of glycosylation, type id semapv:UnspecifiedMatching MONDO:0010998 ALG3-congenital disorder of glycosylation skos:exactMatch Orphanet:79321 ALG3-CDG semapv:UnspecifiedMatching MONDO:0010998 ALG3-congenital disorder of glycosylation skos:exactMatch SCTID:720976009 semapv:UnspecifiedMatching MONDO:0010998 ALG3-congenital disorder of glycosylation skos:exactMatch UMLS:C1832736 semapv:UnspecifiedMatching MONDO:0010998 ALG3-congenital disorder of glycosylation skos:exactMatch mesh:C535742 semapv:UnspecifiedMatching MONDO:0010999 fallot complex-intellectual disability-growth delay syndrome skos:exactMatch MEDGEN:322025 semapv:UnspecifiedMatching MONDO:0010999 fallot complex-intellectual disability-growth delay syndrome skos:exactMatch OMIM:601127 fallot complex with severe mental and growth retardation semapv:UnspecifiedMatching MONDO:0010999 fallot complex-intellectual disability-growth delay syndrome skos:exactMatch Orphanet:3304 Fallot complex-intellectual disability-growth delay syndrome semapv:UnspecifiedMatching MONDO:0010999 fallot complex-intellectual disability-growth delay syndrome skos:exactMatch SCTID:723336008 semapv:UnspecifiedMatching MONDO:0010999 fallot complex-intellectual disability-growth delay syndrome skos:exactMatch UMLS:C1832735 semapv:UnspecifiedMatching MONDO:0010999 fallot complex-intellectual disability-growth delay syndrome skos:exactMatch mesh:C536608 semapv:UnspecifiedMatching MONDO:0011000 guanylate cyclase 2E skos:exactMatch OMIM:601138 guanylate cyclase 2e, pseudogene semapv:UnspecifiedMatching MONDO:0011001 Brugada syndrome 1 skos:exactMatch DOID:0110218 Brugada syndrome 1 semapv:UnspecifiedMatching MONDO:0011001 Brugada syndrome 1 skos:exactMatch MEDGEN:1646402 semapv:UnspecifiedMatching MONDO:0011001 Brugada syndrome 1 skos:exactMatch OMIM:601144 brugada syndrome 1 semapv:UnspecifiedMatching MONDO:0011001 Brugada syndrome 1 skos:exactMatch UMLS:C4551804 semapv:UnspecifiedMatching MONDO:0011002 neuropathy, hereditary motor and sensory, type 6A skos:exactMatch OMIM:601152 neuropathy, hereditary motor and sensory, type via, with optic atrophy semapv:UnspecifiedMatching MONDO:0011003 dilated cardiomyopathy 1E skos:exactMatch DOID:0110433 dilated cardiomyopathy 1E semapv:UnspecifiedMatching MONDO:0011003 dilated cardiomyopathy 1E skos:exactMatch MEDGEN:331341 semapv:UnspecifiedMatching MONDO:0011003 dilated cardiomyopathy 1E skos:exactMatch OMIM:601154 cardiomyopathy, dilated, 1e semapv:UnspecifiedMatching MONDO:0011003 dilated cardiomyopathy 1E skos:exactMatch UMLS:C1832680 semapv:UnspecifiedMatching MONDO:0011003 dilated cardiomyopathy 1E skos:exactMatch mesh:C563384 semapv:UnspecifiedMatching MONDO:0011004 lissencephaly type 3-metacarpal bone dysplasia syndrome skos:exactMatch MEDGEN:371379 semapv:UnspecifiedMatching MONDO:0011004 lissencephaly type 3-metacarpal bone dysplasia syndrome skos:exactMatch OMIM:601160 lissencephaly type 3 and bone dysplasia semapv:UnspecifiedMatching MONDO:0011004 lissencephaly type 3-metacarpal bone dysplasia syndrome skos:exactMatch Orphanet:86822 Lissencephaly type 3-metacarpal bone dysplasia syndrome semapv:UnspecifiedMatching MONDO:0011004 lissencephaly type 3-metacarpal bone dysplasia syndrome skos:exactMatch SCTID:718720007 semapv:UnspecifiedMatching MONDO:0011004 lissencephaly type 3-metacarpal bone dysplasia syndrome skos:exactMatch UMLS:C1832678 semapv:UnspecifiedMatching MONDO:0011004 lissencephaly type 3-metacarpal bone dysplasia syndrome skos:exactMatch mesh:C563383 semapv:UnspecifiedMatching MONDO:0011005 trisomy 18-like syndrome skos:exactMatch MEDGEN:331340 semapv:UnspecifiedMatching MONDO:0011005 trisomy 18-like syndrome skos:exactMatch OMIM:601161 trisomy 18-like syndrome semapv:UnspecifiedMatching MONDO:0011005 trisomy 18-like syndrome skos:exactMatch UMLS:C1832677 semapv:UnspecifiedMatching MONDO:0011005 trisomy 18-like syndrome skos:exactMatch mesh:C563382 semapv:UnspecifiedMatching MONDO:0011006 hereditary spastic paraplegia 9A skos:exactMatch DOID:0110824 hereditary spastic paraplegia 9A semapv:UnspecifiedMatching MONDO:0011006 hereditary spastic paraplegia 9A skos:exactMatch MEDGEN:1800401 semapv:UnspecifiedMatching MONDO:0011006 hereditary spastic paraplegia 9A skos:exactMatch OMIM:601162 spastic paraplegia 9a, autosomal dominant semapv:UnspecifiedMatching MONDO:0011006 hereditary spastic paraplegia 9A skos:exactMatch Orphanet:447753 Autosomal dominant spastic paraplegia type 9A semapv:UnspecifiedMatching MONDO:0011006 hereditary spastic paraplegia 9A skos:exactMatch UMLS:C5568978 semapv:UnspecifiedMatching MONDO:0011006 hereditary spastic paraplegia 9A skos:exactMatch mesh:C536868 semapv:UnspecifiedMatching MONDO:0011007 diaphragmatic defect-limb deficiency-skull defect syndrome skos:exactMatch MEDGEN:371377 semapv:UnspecifiedMatching MONDO:0011007 diaphragmatic defect-limb deficiency-skull defect syndrome skos:exactMatch OMIM:601163 diaphragmatic defects, limb deficiencies, and ossification defects of skull semapv:UnspecifiedMatching MONDO:0011007 diaphragmatic defect-limb deficiency-skull defect syndrome skos:exactMatch Orphanet:2141 Diaphragmatic defect-limb deficiency-skull defect syndrome semapv:UnspecifiedMatching MONDO:0011007 diaphragmatic defect-limb deficiency-skull defect syndrome skos:exactMatch SCTID:721095007 semapv:UnspecifiedMatching MONDO:0011007 diaphragmatic defect-limb deficiency-skull defect syndrome skos:exactMatch UMLS:C1832668 semapv:UnspecifiedMatching MONDO:0011007 diaphragmatic defect-limb deficiency-skull defect syndrome skos:exactMatch mesh:C563380 semapv:UnspecifiedMatching MONDO:0011008 cleft lip/palate-intestinal malrotation-cardiopathy syndrome skos:exactMatch MEDGEN:444135 semapv:UnspecifiedMatching MONDO:0011008 cleft lip/palate-intestinal malrotation-cardiopathy syndrome skos:exactMatch OMIM:601165 cleft lip/palate with characteristic facies, intestinal malrotation, and lethal congenital heart disease semapv:UnspecifiedMatching MONDO:0011008 cleft lip/palate-intestinal malrotation-cardiopathy syndrome skos:exactMatch Orphanet:2001 Cleft lip/palate-intestinal malrotation-cardiopathy syndrome semapv:UnspecifiedMatching MONDO:0011008 cleft lip/palate-intestinal malrotation-cardiopathy syndrome skos:exactMatch SCTID:719456001 semapv:UnspecifiedMatching MONDO:0011008 cleft lip/palate-intestinal malrotation-cardiopathy syndrome skos:exactMatch UMLS:C2931750 semapv:UnspecifiedMatching MONDO:0011008 cleft lip/palate-intestinal malrotation-cardiopathy syndrome skos:exactMatch mesh:C538160 semapv:UnspecifiedMatching MONDO:0011009 muscular dystrophy, congenital, with severe central nervous system atrophy and absence of large myelinated fibers skos:exactMatch MEDGEN:331338 semapv:UnspecifiedMatching MONDO:0011009 muscular dystrophy, congenital, with severe central nervous system atrophy and absence of large myelinated fibers skos:exactMatch OMIM:601170 muscular dystrophy, congenital, with severe central nervous system atrophy and absence of large myelinated fibers semapv:UnspecifiedMatching MONDO:0011009 muscular dystrophy, congenital, with severe central nervous system atrophy and absence of large myelinated fibers skos:exactMatch UMLS:C1832665 semapv:UnspecifiedMatching MONDO:0011009 muscular dystrophy, congenital, with severe central nervous system atrophy and absence of large myelinated fibers skos:exactMatch mesh:C563378 semapv:UnspecifiedMatching MONDO:0011010 Matthew-Wood syndrome skos:exactMatch DOID:0111807 syndromic microphthalmia 9 semapv:UnspecifiedMatching MONDO:0011010 Matthew-Wood syndrome skos:exactMatch MEDGEN:318679 semapv:UnspecifiedMatching MONDO:0011010 Matthew-Wood syndrome skos:exactMatch OMIM:601186 microphthalmia, syndromic 9 semapv:UnspecifiedMatching MONDO:0011010 Matthew-Wood syndrome skos:exactMatch Orphanet:2470 Matthew-Wood syndrome semapv:UnspecifiedMatching MONDO:0011010 Matthew-Wood syndrome skos:exactMatch SCTID:722458000 semapv:UnspecifiedMatching MONDO:0011010 Matthew-Wood syndrome skos:exactMatch UMLS:C1832661 semapv:UnspecifiedMatching MONDO:0011010 Matthew-Wood syndrome skos:exactMatch mesh:C537768 semapv:UnspecifiedMatching MONDO:0011011 skeletal dysplasia-epilepsy-short stature syndrome skos:exactMatch MEDGEN:208660 semapv:UnspecifiedMatching MONDO:0011011 skeletal dysplasia-epilepsy-short stature syndrome skos:exactMatch OMIM:601187 gurrieri syndrome semapv:UnspecifiedMatching MONDO:0011011 skeletal dysplasia-epilepsy-short stature syndrome skos:exactMatch Orphanet:1858 Skeletal dysplasia-epilepsy-short stature syndrome semapv:UnspecifiedMatching MONDO:0011011 skeletal dysplasia-epilepsy-short stature syndrome skos:exactMatch SCTID:715428003 semapv:UnspecifiedMatching MONDO:0011011 skeletal dysplasia-epilepsy-short stature syndrome skos:exactMatch UMLS:C0796046 semapv:UnspecifiedMatching MONDO:0011011 skeletal dysplasia-epilepsy-short stature syndrome skos:exactMatch mesh:C537625 semapv:UnspecifiedMatching MONDO:0011012 African iron overload skos:exactMatch DOID:0111033 African iron overload semapv:UnspecifiedMatching MONDO:0011012 African iron overload skos:exactMatch MEDGEN:75649 semapv:UnspecifiedMatching MONDO:0011012 African iron overload skos:exactMatch OMIM:601195 iron overload 1n africa semapv:UnspecifiedMatching MONDO:0011012 African iron overload skos:exactMatch Orphanet:139507 Dietary iron overload disease semapv:UnspecifiedMatching MONDO:0011012 African iron overload skos:exactMatch SCTID:66576001 semapv:UnspecifiedMatching MONDO:0011012 African iron overload skos:exactMatch UMLS:C0268063 semapv:UnspecifiedMatching MONDO:0011012 African iron overload skos:exactMatch icd11.foundation:869212237 African iron overload semapv:UnspecifiedMatching MONDO:0011012 African iron overload skos:exactMatch mesh:C537904 semapv:UnspecifiedMatching MONDO:0011013 autosomal dominant hypocalcemia 1 skos:exactMatch DOID:0090107 autosomal dominant hypocalcemia 1 semapv:UnspecifiedMatching MONDO:0011013 autosomal dominant hypocalcemia 1 skos:exactMatch MEDGEN:811594 semapv:UnspecifiedMatching MONDO:0011013 autosomal dominant hypocalcemia 1 skos:exactMatch OMIM:601198 hypocalcemia, autosomal dominant 1 semapv:UnspecifiedMatching MONDO:0011013 autosomal dominant hypocalcemia 1 skos:exactMatch UMLS:C3715128 semapv:UnspecifiedMatching MONDO:0011014 pleuropulmonary blastoma skos:exactMatch DOID:4769 pleuropulmonary blastoma semapv:UnspecifiedMatching MONDO:0011014 pleuropulmonary blastoma skos:exactMatch EFO:0009052 semapv:UnspecifiedMatching MONDO:0011014 pleuropulmonary blastoma skos:exactMatch MEDGEN:266105 semapv:UnspecifiedMatching MONDO:0011014 pleuropulmonary blastoma skos:exactMatch NCIT:C5669 Pleuropulmonary Blastoma semapv:UnspecifiedMatching MONDO:0011014 pleuropulmonary blastoma skos:exactMatch OMIM:601200 pleuropulmonary blastoma semapv:UnspecifiedMatching MONDO:0011014 pleuropulmonary blastoma skos:exactMatch Orphanet:64742 Pleuropulmonary blastoma semapv:UnspecifiedMatching MONDO:0011014 pleuropulmonary blastoma skos:exactMatch SCTID:707670009 semapv:UnspecifiedMatching MONDO:0011014 pleuropulmonary blastoma skos:exactMatch UMLS:C1266144 semapv:UnspecifiedMatching MONDO:0011014 pleuropulmonary blastoma skos:exactMatch mesh:C537516 semapv:UnspecifiedMatching MONDO:0011015 cataract 24 skos:exactMatch DOID:0110257 cataract 24 semapv:UnspecifiedMatching MONDO:0011015 cataract 24 skos:exactMatch MEDGEN:371364 semapv:UnspecifiedMatching MONDO:0011015 cataract 24 skos:exactMatch OMIM:601202 cataract 24 semapv:UnspecifiedMatching MONDO:0011015 cataract 24 skos:exactMatch UMLS:C1832609 semapv:UnspecifiedMatching MONDO:0011015 cataract 24 skos:exactMatch mesh:C537774 semapv:UnspecifiedMatching MONDO:0011016 type 1 diabetes mellitus 11 skos:exactMatch DOID:0110750 type 1 diabetes mellitus 11 semapv:UnspecifiedMatching MONDO:0011016 type 1 diabetes mellitus 11 skos:exactMatch MEDGEN:321994 semapv:UnspecifiedMatching MONDO:0011016 type 1 diabetes mellitus 11 skos:exactMatch OMIM:601208 type 1 diabetes mellitus 11 semapv:UnspecifiedMatching MONDO:0011016 type 1 diabetes mellitus 11 skos:exactMatch UMLS:C1832605 semapv:UnspecifiedMatching MONDO:0011016 type 1 diabetes mellitus 11 skos:exactMatch mesh:C563371 semapv:UnspecifiedMatching MONDO:0011017 Naxos disease skos:exactMatch DOID:0080551 Naxos disease semapv:UnspecifiedMatching MONDO:0011017 Naxos disease skos:exactMatch MEDGEN:321991 semapv:UnspecifiedMatching MONDO:0011017 Naxos disease skos:exactMatch OMIM:601214 naxos disease semapv:UnspecifiedMatching MONDO:0011017 Naxos disease skos:exactMatch Orphanet:34217 Naxos disease semapv:UnspecifiedMatching MONDO:0011017 Naxos disease skos:exactMatch SCTID:715535009 semapv:UnspecifiedMatching MONDO:0011017 Naxos disease skos:exactMatch UMLS:C1832600 semapv:UnspecifiedMatching MONDO:0011017 Naxos disease skos:exactMatch icd11.foundation:633516876 Naxos disease semapv:UnspecifiedMatching MONDO:0011017 Naxos disease skos:exactMatch mesh:C538346 semapv:UnspecifiedMatching MONDO:0011018 brachyolmia-amelogenesis imperfecta syndrome skos:exactMatch DOID:0090143 brachyolmia-amelogenesis imperfecta syndrome semapv:UnspecifiedMatching MONDO:0011018 brachyolmia-amelogenesis imperfecta syndrome skos:exactMatch MEDGEN:318659 semapv:UnspecifiedMatching MONDO:0011018 brachyolmia-amelogenesis imperfecta syndrome skos:exactMatch OMIM:601216 dental anomalies and short stature semapv:UnspecifiedMatching MONDO:0011018 brachyolmia-amelogenesis imperfecta syndrome skos:exactMatch Orphanet:2899 Brachyolmia-amelogenesis imperfecta syndrome semapv:UnspecifiedMatching MONDO:0011018 brachyolmia-amelogenesis imperfecta syndrome skos:exactMatch SCTID:716195006 semapv:UnspecifiedMatching MONDO:0011018 brachyolmia-amelogenesis imperfecta syndrome skos:exactMatch UMLS:C1832594 semapv:UnspecifiedMatching MONDO:0011019 alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome skos:exactMatch MEDGEN:321990 semapv:UnspecifiedMatching MONDO:0011019 alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome skos:exactMatch OMIM:601217 alopecia-impaired intellectual developmental syndrome with convulsions and hypergonadotropic hypogonadism semapv:UnspecifiedMatching MONDO:0011019 alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome skos:exactMatch Orphanet:1014 Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome semapv:UnspecifiedMatching MONDO:0011019 alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome skos:exactMatch SCTID:720981000 semapv:UnspecifiedMatching MONDO:0011019 alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome skos:exactMatch UMLS:C1832593 semapv:UnspecifiedMatching MONDO:0011019 alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome skos:exactMatch mesh:C563370 semapv:UnspecifiedMatching MONDO:0011020 osteoporosis-oculocutaneous hypopigmentation syndrome skos:exactMatch MEDGEN:331321 semapv:UnspecifiedMatching MONDO:0011020 osteoporosis-oculocutaneous hypopigmentation syndrome skos:exactMatch OMIM:601220 osteoporosis and oculocutaneous hypopigmentation syndrome semapv:UnspecifiedMatching MONDO:0011020 osteoporosis-oculocutaneous hypopigmentation syndrome skos:exactMatch Orphanet:2786 Osteoporosis-oculocutaneous hypopigmentation syndrome semapv:UnspecifiedMatching MONDO:0011020 osteoporosis-oculocutaneous hypopigmentation syndrome skos:exactMatch SCTID:722113001 semapv:UnspecifiedMatching MONDO:0011020 osteoporosis-oculocutaneous hypopigmentation syndrome skos:exactMatch UMLS:C1832592 semapv:UnspecifiedMatching MONDO:0011020 osteoporosis-oculocutaneous hypopigmentation syndrome skos:exactMatch mesh:C536062 semapv:UnspecifiedMatching MONDO:0011021 neuronal intestinal dysplasia, type B skos:exactMatch DOID:0080680 neuronal intestinal dysplasia type B semapv:UnspecifiedMatching MONDO:0011021 neuronal intestinal dysplasia, type B skos:exactMatch MEDGEN:318658 semapv:UnspecifiedMatching MONDO:0011021 neuronal intestinal dysplasia, type B skos:exactMatch OMIM:601223 neuronal intestinal dysplasia, type B semapv:UnspecifiedMatching MONDO:0011021 neuronal intestinal dysplasia, type B skos:exactMatch UMLS:C1832589 semapv:UnspecifiedMatching MONDO:0011022 Potocki-Shaffer syndrome skos:exactMatch DOID:0111687 Potocki-Shaffer syndrome semapv:UnspecifiedMatching MONDO:0011022 Potocki-Shaffer syndrome skos:exactMatch MEDGEN:318657 semapv:UnspecifiedMatching MONDO:0011022 Potocki-Shaffer syndrome skos:exactMatch NCIT:C75456 Potocki-Shaffer Syndrome semapv:UnspecifiedMatching MONDO:0011022 Potocki-Shaffer syndrome skos:exactMatch OMIM:601224 potocki-shaffer syndrome semapv:UnspecifiedMatching MONDO:0011022 Potocki-Shaffer syndrome skos:exactMatch Orphanet:52022 Potocki-Shaffer syndrome semapv:UnspecifiedMatching MONDO:0011022 Potocki-Shaffer syndrome skos:exactMatch SCTID:702346005 semapv:UnspecifiedMatching MONDO:0011022 Potocki-Shaffer syndrome skos:exactMatch UMLS:C1832588 semapv:UnspecifiedMatching MONDO:0011022 Potocki-Shaffer syndrome skos:exactMatch icd11.foundation:1587521558 Potocki-Shaffer syndrome semapv:UnspecifiedMatching MONDO:0011022 Potocki-Shaffer syndrome skos:exactMatch mesh:C538356 semapv:UnspecifiedMatching MONDO:0011023 hereditary mixed polyposis syndrome skos:exactMatch DOID:0111684 hereditary mixed polyposis syndrome semapv:UnspecifiedMatching MONDO:0011023 hereditary mixed polyposis syndrome skos:exactMatch MEDGEN:1672870 semapv:UnspecifiedMatching MONDO:0011023 hereditary mixed polyposis syndrome skos:exactMatch OMIMPS:601228 Polyposis syndrome, hereditary mixed semapv:UnspecifiedMatching MONDO:0011023 hereditary mixed polyposis syndrome skos:exactMatch Orphanet:157794 Hereditary mixed polyposis syndrome semapv:UnspecifiedMatching MONDO:0011023 hereditary mixed polyposis syndrome skos:exactMatch UMLS:C5192681 semapv:UnspecifiedMatching MONDO:0011023 hereditary mixed polyposis syndrome skos:exactMatch icd11.foundation:219068911 Hereditary mixed polyposis syndrome semapv:UnspecifiedMatching MONDO:0011023 hereditary mixed polyposis syndrome skos:exactMatch mesh:C563365 semapv:UnspecifiedMatching MONDO:0011024 dermatitis herpetiformis, familial skos:exactMatch MEDGEN:371361 semapv:UnspecifiedMatching MONDO:0011024 dermatitis herpetiformis, familial skos:exactMatch OMIM:601230 dermatitis herpetiformis, familial semapv:UnspecifiedMatching MONDO:0011024 dermatitis herpetiformis, familial skos:exactMatch UMLS:C1832586 semapv:UnspecifiedMatching MONDO:0011024 dermatitis herpetiformis, familial skos:exactMatch mesh:C538218 semapv:UnspecifiedMatching MONDO:0011025 Cayman type cerebellar ataxia skos:exactMatch DOID:0060694 Cayman type cerebellar ataxia semapv:UnspecifiedMatching MONDO:0011025 Cayman type cerebellar ataxia skos:exactMatch MEDGEN:331319 semapv:UnspecifiedMatching MONDO:0011025 Cayman type cerebellar ataxia skos:exactMatch OMIM:601238 cerebellar ataxia, cayman type semapv:UnspecifiedMatching MONDO:0011025 Cayman type cerebellar ataxia skos:exactMatch Orphanet:94122 Cerebellar ataxia, Cayman type semapv:UnspecifiedMatching MONDO:0011025 Cayman type cerebellar ataxia skos:exactMatch SCTID:717332007 semapv:UnspecifiedMatching MONDO:0011025 Cayman type cerebellar ataxia skos:exactMatch UMLS:C1832585 semapv:UnspecifiedMatching MONDO:0011025 Cayman type cerebellar ataxia skos:exactMatch mesh:C563363 semapv:UnspecifiedMatching MONDO:0011026 autosomal recessive congenital ichthyosis 4A skos:exactMatch DOID:0060712 autosomal recessive congenital ichthyosis 4A semapv:UnspecifiedMatching MONDO:0011026 autosomal recessive congenital ichthyosis 4A skos:exactMatch MEDGEN:371355 semapv:UnspecifiedMatching MONDO:0011026 autosomal recessive congenital ichthyosis 4A skos:exactMatch OMIM:601277 ichthyosis, congenital, autosomal recessive 4a semapv:UnspecifiedMatching MONDO:0011026 autosomal recessive congenital ichthyosis 4A skos:exactMatch UMLS:C1832550 semapv:UnspecifiedMatching MONDO:0011026 autosomal recessive congenital ichthyosis 4A skos:exactMatch mesh:C537264 semapv:UnspecifiedMatching MONDO:0011027 diabetes mellitus, noninsulin-dependent, 1 skos:exactMatch MEDGEN:321979 semapv:UnspecifiedMatching MONDO:0011027 diabetes mellitus, noninsulin-dependent, 1 skos:exactMatch OMIM:601283 type 2 diabetes mellitus 1 semapv:UnspecifiedMatching MONDO:0011027 diabetes mellitus, noninsulin-dependent, 1 skos:exactMatch UMLS:C1832544 semapv:UnspecifiedMatching MONDO:0011027 diabetes mellitus, noninsulin-dependent, 1 skos:exactMatch mesh:C563359 semapv:UnspecifiedMatching MONDO:0011028 autosomal recessive limb-girdle muscular dystrophy type 2F skos:exactMatch DOID:0110280 autosomal recessive limb-girdle muscular dystrophy type 2F semapv:UnspecifiedMatching MONDO:0011028 autosomal recessive limb-girdle muscular dystrophy type 2F skos:exactMatch MEDGEN:331308 semapv:UnspecifiedMatching MONDO:0011028 autosomal recessive limb-girdle muscular dystrophy type 2F skos:exactMatch OMIM:601287 muscular dystrophy, limb-girdle, autosomal recessive 6 semapv:UnspecifiedMatching MONDO:0011028 autosomal recessive limb-girdle muscular dystrophy type 2F skos:exactMatch Orphanet:219 Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 semapv:UnspecifiedMatching MONDO:0011028 autosomal recessive limb-girdle muscular dystrophy type 2F skos:exactMatch SCTID:718177001 semapv:UnspecifiedMatching MONDO:0011028 autosomal recessive limb-girdle muscular dystrophy type 2F skos:exactMatch UMLS:C1832525 semapv:UnspecifiedMatching MONDO:0011028 autosomal recessive limb-girdle muscular dystrophy type 2F skos:exactMatch mesh:C535896 semapv:UnspecifiedMatching MONDO:0011029 myeloid tumor suppressor skos:exactMatch MEDGEN:318644 semapv:UnspecifiedMatching MONDO:0011029 myeloid tumor suppressor skos:exactMatch OMIM:601308 myeloid tumor suppressor semapv:UnspecifiedMatching MONDO:0011029 myeloid tumor suppressor skos:exactMatch UMLS:C1832510 semapv:UnspecifiedMatching MONDO:0011030 epithelial basolateral chloride conductance regulator, rabbit, homolog of skos:exactMatch MEDGEN:321967 semapv:UnspecifiedMatching MONDO:0011030 epithelial basolateral chloride conductance regulator, rabbit, homolog of skos:exactMatch OMIM:601315 epithelial basolateral chloride conductance regulator, rabbit, homolog of semapv:UnspecifiedMatching MONDO:0011030 epithelial basolateral chloride conductance regulator, rabbit, homolog of skos:exactMatch UMLS:C1832477 semapv:UnspecifiedMatching MONDO:0011031 autosomal dominant nonsyndromic hearing loss 10 skos:exactMatch DOID:0110542 autosomal dominant nonsyndromic deafness 10 semapv:UnspecifiedMatching MONDO:0011031 autosomal dominant nonsyndromic hearing loss 10 skos:exactMatch MEDGEN:321966 semapv:UnspecifiedMatching MONDO:0011031 autosomal dominant nonsyndromic hearing loss 10 skos:exactMatch OMIM:601316 deafness, autosomal dominant 10 semapv:UnspecifiedMatching MONDO:0011031 autosomal dominant nonsyndromic hearing loss 10 skos:exactMatch UMLS:C1832476 semapv:UnspecifiedMatching MONDO:0011031 autosomal dominant nonsyndromic hearing loss 10 skos:exactMatch mesh:C563354 semapv:UnspecifiedMatching MONDO:0011032 autosomal dominant nonsyndromic hearing loss 11 skos:exactMatch DOID:0110543 autosomal dominant nonsyndromic deafness 11 semapv:UnspecifiedMatching MONDO:0011032 autosomal dominant nonsyndromic hearing loss 11 skos:exactMatch MEDGEN:331297 semapv:UnspecifiedMatching MONDO:0011032 autosomal dominant nonsyndromic hearing loss 11 skos:exactMatch OMIM:601317 deafness, autosomal dominant 11 semapv:UnspecifiedMatching MONDO:0011032 autosomal dominant nonsyndromic hearing loss 11 skos:exactMatch UMLS:C1832475 semapv:UnspecifiedMatching MONDO:0011032 autosomal dominant nonsyndromic hearing loss 11 skos:exactMatch mesh:C563353 semapv:UnspecifiedMatching MONDO:0011033 type 1 diabetes mellitus 13 skos:exactMatch DOID:0110752 type 1 diabetes mellitus 13 semapv:UnspecifiedMatching MONDO:0011033 type 1 diabetes mellitus 13 skos:exactMatch MEDGEN:371337 semapv:UnspecifiedMatching MONDO:0011033 type 1 diabetes mellitus 13 skos:exactMatch OMIM:601318 type 1 diabetes mellitus 13 semapv:UnspecifiedMatching MONDO:0011033 type 1 diabetes mellitus 13 skos:exactMatch UMLS:C1832474 semapv:UnspecifiedMatching MONDO:0011033 type 1 diabetes mellitus 13 skos:exactMatch mesh:C563352 semapv:UnspecifiedMatching MONDO:0011034 odontomicronychial dysplasia skos:exactMatch MEDGEN:371336 semapv:UnspecifiedMatching MONDO:0011034 odontomicronychial dysplasia skos:exactMatch OMIM:601319 odontomicronychial dysplasia semapv:UnspecifiedMatching MONDO:0011034 odontomicronychial dysplasia skos:exactMatch Orphanet:1811 Odontomicronychial dysplasia semapv:UnspecifiedMatching MONDO:0011034 odontomicronychial dysplasia skos:exactMatch UMLS:C1832473 semapv:UnspecifiedMatching MONDO:0011034 odontomicronychial dysplasia skos:exactMatch mesh:C537741 semapv:UnspecifiedMatching MONDO:0011035 neurofibromatosis-Noonan syndrome skos:exactMatch DOID:0111683 neurofibromatosis-Noonan syndrome semapv:UnspecifiedMatching MONDO:0011035 neurofibromatosis-Noonan syndrome skos:exactMatch MEDGEN:419089 semapv:UnspecifiedMatching MONDO:0011035 neurofibromatosis-Noonan syndrome skos:exactMatch OMIM:601321 neurofibromatosis-noonan syndrome semapv:UnspecifiedMatching MONDO:0011035 neurofibromatosis-Noonan syndrome skos:exactMatch Orphanet:638 Neurofibromatosis-Noonan syndrome semapv:UnspecifiedMatching MONDO:0011035 neurofibromatosis-Noonan syndrome skos:exactMatch SCTID:715344006 semapv:UnspecifiedMatching MONDO:0011035 neurofibromatosis-Noonan syndrome skos:exactMatch UMLS:C2931482 semapv:UnspecifiedMatching MONDO:0011035 neurofibromatosis-Noonan syndrome skos:exactMatch icd11.foundation:679913930 Neurofibromatosis-Noonan syndrome semapv:UnspecifiedMatching MONDO:0011035 neurofibromatosis-Noonan syndrome skos:exactMatch mesh:C537393 semapv:UnspecifiedMatching MONDO:0011036 porencephaly-cerebellar hypoplasia-internal malformations syndrome skos:exactMatch MEDGEN:331296 semapv:UnspecifiedMatching MONDO:0011036 porencephaly-cerebellar hypoplasia-internal malformations syndrome skos:exactMatch OMIM:601322 porencephaly, cerebellar hypoplasia, and internal malformations semapv:UnspecifiedMatching MONDO:0011036 porencephaly-cerebellar hypoplasia-internal malformations syndrome skos:exactMatch Orphanet:2941 Porencephaly-cerebellar hypoplasia-internal malformations syndrome semapv:UnspecifiedMatching MONDO:0011036 porencephaly-cerebellar hypoplasia-internal malformations syndrome skos:exactMatch SCTID:763821001 semapv:UnspecifiedMatching MONDO:0011036 porencephaly-cerebellar hypoplasia-internal malformations syndrome skos:exactMatch UMLS:C1832472 semapv:UnspecifiedMatching MONDO:0011036 porencephaly-cerebellar hypoplasia-internal malformations syndrome skos:exactMatch mesh:C536336 semapv:UnspecifiedMatching MONDO:0011037 renal dysplasia, cystic, susceptibility to skos:exactMatch DOID:0111682 diffuse cystic renal dysplasia semapv:UnspecifiedMatching MONDO:0011037 renal dysplasia, cystic, susceptibility to skos:exactMatch MEDGEN:477529 semapv:UnspecifiedMatching MONDO:0011037 renal dysplasia, cystic, susceptibility to skos:exactMatch OMIM:601331 renal dysplasia, cystic, susceptibility to semapv:UnspecifiedMatching MONDO:0011037 renal dysplasia, cystic, susceptibility to skos:exactMatch UMLS:C3275898 semapv:UnspecifiedMatching MONDO:0011037 renal dysplasia, cystic, susceptibility to skos:exactMatch mesh:C537755 semapv:UnspecifiedMatching MONDO:0011038 cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome skos:exactMatch MEDGEN:318633 semapv:UnspecifiedMatching MONDO:0011038 cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome skos:exactMatch OMIM:601338 cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss semapv:UnspecifiedMatching MONDO:0011038 cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome skos:exactMatch Orphanet:1171 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome semapv:UnspecifiedMatching MONDO:0011038 cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome skos:exactMatch SCTID:720634003 semapv:UnspecifiedMatching MONDO:0011038 cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome skos:exactMatch UMLS:C1832466 semapv:UnspecifiedMatching MONDO:0011038 cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome skos:exactMatch mesh:C535351 semapv:UnspecifiedMatching MONDO:0011039 atrophia maculosa varioliformis cutis, familial skos:exactMatch MEDGEN:371334 semapv:UnspecifiedMatching MONDO:0011039 atrophia maculosa varioliformis cutis, familial skos:exactMatch OMIM:601341 atrophia maculosa varioliformis cutis, familial semapv:UnspecifiedMatching MONDO:0011039 atrophia maculosa varioliformis cutis, familial skos:exactMatch UMLS:C1832465 semapv:UnspecifiedMatching MONDO:0011039 atrophia maculosa varioliformis cutis, familial skos:exactMatch mesh:C563349 semapv:UnspecifiedMatching MONDO:0011040 spinal dysplasia, Anhalt type skos:exactMatch MEDGEN:318632 semapv:UnspecifiedMatching MONDO:0011040 spinal dysplasia, Anhalt type skos:exactMatch OMIM:601344 spinal dysplasia, anhalt type semapv:UnspecifiedMatching MONDO:0011040 spinal dysplasia, Anhalt type skos:exactMatch UMLS:C1832464 semapv:UnspecifiedMatching MONDO:0011040 spinal dysplasia, Anhalt type skos:exactMatch mesh:C563348 semapv:UnspecifiedMatching MONDO:0011041 ectodermal dysplasia with natal teeth, Turnpenny type skos:exactMatch MEDGEN:371331 semapv:UnspecifiedMatching MONDO:0011041 ectodermal dysplasia with natal teeth, Turnpenny type skos:exactMatch OMIM:601345 ectodermal dysplasia with natal teeth, turnpenny type semapv:UnspecifiedMatching MONDO:0011041 ectodermal dysplasia with natal teeth, Turnpenny type skos:exactMatch Orphanet:69083 Ectodermal dysplasia with natal teeth, Turnpenny type semapv:UnspecifiedMatching MONDO:0011041 ectodermal dysplasia with natal teeth, Turnpenny type skos:exactMatch SCTID:715576000 semapv:UnspecifiedMatching MONDO:0011041 ectodermal dysplasia with natal teeth, Turnpenny type skos:exactMatch UMLS:C1832444 semapv:UnspecifiedMatching MONDO:0011041 ectodermal dysplasia with natal teeth, Turnpenny type skos:exactMatch icd11.foundation:612149960 Ectodermal dysplasia with natal teeth, Turnpenny type semapv:UnspecifiedMatching MONDO:0011041 ectodermal dysplasia with natal teeth, Turnpenny type skos:exactMatch mesh:C563347 semapv:UnspecifiedMatching MONDO:0011042 Martinez-Frias syndrome skos:exactMatch MEDGEN:318628 semapv:UnspecifiedMatching MONDO:0011042 Martinez-Frias syndrome skos:exactMatch OMIM:601346 martinez-frias syndrome semapv:UnspecifiedMatching MONDO:0011042 Martinez-Frias syndrome skos:exactMatch UMLS:C1832443 semapv:UnspecifiedMatching MONDO:0011042 Martinez-Frias syndrome skos:exactMatch mesh:C563346 semapv:UnspecifiedMatching MONDO:0011043 myelodysplasia, immunodeficiency, facial dysmorphism, short stature, and psychomotor delay skos:exactMatch MEDGEN:318627 semapv:UnspecifiedMatching MONDO:0011043 myelodysplasia, immunodeficiency, facial dysmorphism, short stature, and psychomotor delay skos:exactMatch OMIM:601347 myelodysplasia, immunodeficiency, facial dysmorphism, short stature, and psychomotor delay semapv:UnspecifiedMatching MONDO:0011043 myelodysplasia, immunodeficiency, facial dysmorphism, short stature, and psychomotor delay skos:exactMatch UMLS:C1832442 semapv:UnspecifiedMatching MONDO:0011043 myelodysplasia, immunodeficiency, facial dysmorphism, short stature, and psychomotor delay skos:exactMatch mesh:C563345 semapv:UnspecifiedMatching MONDO:0011044 ectrodactyly of lower limbs, congenital heart defect, and micrognathia skos:exactMatch MEDGEN:318626 semapv:UnspecifiedMatching MONDO:0011044 ectrodactyly of lower limbs, congenital heart defect, and micrognathia skos:exactMatch OMIM:601348 ectrodactyly of lower limbs, congenital heart defect, and micrognathia semapv:UnspecifiedMatching MONDO:0011044 ectrodactyly of lower limbs, congenital heart defect, and micrognathia skos:exactMatch UMLS:C1832441 semapv:UnspecifiedMatching MONDO:0011044 ectrodactyly of lower limbs, congenital heart defect, and micrognathia skos:exactMatch mesh:C563344 semapv:UnspecifiedMatching MONDO:0011045 MMEP syndrome skos:exactMatch DOID:0111803 syndromic microphthalmia 8 semapv:UnspecifiedMatching MONDO:0011045 MMEP syndrome skos:exactMatch MEDGEN:330469 semapv:UnspecifiedMatching MONDO:0011045 MMEP syndrome skos:exactMatch OMIM:601349 microphthalmia, syndromic 8 semapv:UnspecifiedMatching MONDO:0011045 MMEP syndrome skos:exactMatch Orphanet:3434 MMEP syndrome semapv:UnspecifiedMatching MONDO:0011045 MMEP syndrome skos:exactMatch SCTID:715533002 semapv:UnspecifiedMatching MONDO:0011045 MMEP syndrome skos:exactMatch UMLS:C1832440 semapv:UnspecifiedMatching MONDO:0011045 MMEP syndrome skos:exactMatch mesh:C537686 semapv:UnspecifiedMatching MONDO:0011046 short stature, Brussels type skos:exactMatch MEDGEN:318625 semapv:UnspecifiedMatching MONDO:0011046 short stature, Brussels type skos:exactMatch OMIM:601350 short stature syndrome, brussels type semapv:UnspecifiedMatching MONDO:0011046 short stature, Brussels type skos:exactMatch Orphanet:2867 Short stature, Brussels type semapv:UnspecifiedMatching MONDO:0011046 short stature, Brussels type skos:exactMatch SCTID:719213009 semapv:UnspecifiedMatching MONDO:0011046 short stature, Brussels type skos:exactMatch UMLS:C1832439 semapv:UnspecifiedMatching MONDO:0011046 short stature, Brussels type skos:exactMatch icd11.foundation:251068104 Short stature, Brussels type semapv:UnspecifiedMatching MONDO:0011046 short stature, Brussels type skos:exactMatch mesh:C537121 semapv:UnspecifiedMatching MONDO:0011047 deafness-epiphyseal dysplasia-short stature syndrome skos:exactMatch MEDGEN:371330 semapv:UnspecifiedMatching MONDO:0011047 deafness-epiphyseal dysplasia-short stature syndrome skos:exactMatch OMIM:601351 growth retardation, deafness, femoral epiphyseal dysplasia, and lacrimal duct obstruction semapv:UnspecifiedMatching MONDO:0011047 deafness-epiphyseal dysplasia-short stature syndrome skos:exactMatch Orphanet:3218 Deafness-epiphyseal dysplasia-short stature syndrome semapv:UnspecifiedMatching MONDO:0011047 deafness-epiphyseal dysplasia-short stature syndrome skos:exactMatch SCTID:716238003 semapv:UnspecifiedMatching MONDO:0011047 deafness-epiphyseal dysplasia-short stature syndrome skos:exactMatch UMLS:C1832438 semapv:UnspecifiedMatching MONDO:0011047 deafness-epiphyseal dysplasia-short stature syndrome skos:exactMatch mesh:C535928 semapv:UnspecifiedMatching MONDO:0011048 epilepsy-microcephaly-skeletal dysplasia syndrome skos:exactMatch MEDGEN:330468 semapv:UnspecifiedMatching MONDO:0011048 epilepsy-microcephaly-skeletal dysplasia syndrome skos:exactMatch OMIM:601352 impaired intellectual development, microcephaly, epilepsy, and coarse face semapv:UnspecifiedMatching MONDO:0011048 epilepsy-microcephaly-skeletal dysplasia syndrome skos:exactMatch Orphanet:1948 Epilepsy-microcephaly-skeletal dysplasia syndrome semapv:UnspecifiedMatching MONDO:0011048 epilepsy-microcephaly-skeletal dysplasia syndrome skos:exactMatch UMLS:C1832437 semapv:UnspecifiedMatching MONDO:0011049 Fine-Lubinsky syndrome skos:exactMatch MEDGEN:163198 semapv:UnspecifiedMatching MONDO:0011049 Fine-Lubinsky syndrome skos:exactMatch OMIM:601353 brachycephaly, deafness, cataract, microstomia, and impaired intellectual development semapv:UnspecifiedMatching MONDO:0011049 Fine-Lubinsky syndrome skos:exactMatch Orphanet:1272 Aymé-Gripp syndrome semapv:UnspecifiedMatching MONDO:0011049 Fine-Lubinsky syndrome skos:exactMatch SCTID:720955004 semapv:UnspecifiedMatching MONDO:0011049 Fine-Lubinsky syndrome skos:exactMatch UMLS:C0795941 semapv:UnspecifiedMatching MONDO:0011049 Fine-Lubinsky syndrome skos:exactMatch mesh:C537933 semapv:UnspecifiedMatching MONDO:0011050 microcephaly-cardiac defect-lung malsegmentation syndrome skos:exactMatch MEDGEN:371329 semapv:UnspecifiedMatching MONDO:0011050 microcephaly-cardiac defect-lung malsegmentation syndrome skos:exactMatch OMIM:601355 microcephaly, congenital heart disease, unilateral renal agenesis, and hyposegmented lungs semapv:UnspecifiedMatching MONDO:0011050 microcephaly-cardiac defect-lung malsegmentation syndrome skos:exactMatch Orphanet:2516 Microcephaly-cardiac defect-lung malsegmentation syndrome semapv:UnspecifiedMatching MONDO:0011050 microcephaly-cardiac defect-lung malsegmentation syndrome skos:exactMatch SCTID:719379001 semapv:UnspecifiedMatching MONDO:0011050 microcephaly-cardiac defect-lung malsegmentation syndrome skos:exactMatch UMLS:C1832436 semapv:UnspecifiedMatching MONDO:0011050 microcephaly-cardiac defect-lung malsegmentation syndrome skos:exactMatch mesh:C563341 semapv:UnspecifiedMatching MONDO:0011051 lethal short-limb skeletal dysplasia, Al Gazali type skos:exactMatch MEDGEN:330467 semapv:UnspecifiedMatching MONDO:0011051 lethal short-limb skeletal dysplasia, Al Gazali type skos:exactMatch OMIM:601356 lethal short-limb skeletal dysplasia, al gazali type semapv:UnspecifiedMatching MONDO:0011051 lethal short-limb skeletal dysplasia, Al Gazali type skos:exactMatch Orphanet:646136 Dysplastic cortical hyperostosis, Al-Gazali type semapv:UnspecifiedMatching MONDO:0011051 lethal short-limb skeletal dysplasia, Al Gazali type skos:exactMatch UMLS:C1832435 semapv:UnspecifiedMatching MONDO:0011051 lethal short-limb skeletal dysplasia, Al Gazali type skos:exactMatch mesh:C537598 semapv:UnspecifiedMatching MONDO:0011052 amelia cleft lip palate hydrocephalus iris coloboma skos:exactMatch MEDGEN:321957 semapv:UnspecifiedMatching MONDO:0011052 amelia cleft lip palate hydrocephalus iris coloboma skos:exactMatch OMIM:601357 brachial amelia, cleft lip, and holoprosencephaly semapv:UnspecifiedMatching MONDO:0011052 amelia cleft lip palate hydrocephalus iris coloboma skos:exactMatch UMLS:C1832434 semapv:UnspecifiedMatching MONDO:0011052 amelia cleft lip palate hydrocephalus iris coloboma skos:exactMatch mesh:C536713 semapv:UnspecifiedMatching MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome skos:exactMatch DOID:0081441 Nicolaides-Baraitser syndrome semapv:UnspecifiedMatching MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome skos:exactMatch MEDGEN:220983 semapv:UnspecifiedMatching MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome skos:exactMatch OMIM:601358 nicolaides-baraitser syndrome semapv:UnspecifiedMatching MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome skos:exactMatch Orphanet:3051 Nicolaides-Baraitser syndrome semapv:UnspecifiedMatching MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome skos:exactMatch SCTID:401046009 semapv:UnspecifiedMatching MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome skos:exactMatch UMLS:C1303073 semapv:UnspecifiedMatching MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome skos:exactMatch mesh:C536116 semapv:UnspecifiedMatching MONDO:0011054 autosomal recessive amelia skos:exactMatch MEDGEN:321955 semapv:UnspecifiedMatching MONDO:0011054 autosomal recessive amelia skos:exactMatch OMIM:601360 amelia, posterior, with pelvic and pulmonary hypoplasia syndrome semapv:UnspecifiedMatching MONDO:0011054 autosomal recessive amelia skos:exactMatch SCTID:726735000 semapv:UnspecifiedMatching MONDO:0011054 autosomal recessive amelia skos:exactMatch UMLS:C1832432 semapv:UnspecifiedMatching MONDO:0011054 autosomal recessive amelia skos:exactMatch mesh:C563338 semapv:UnspecifiedMatching MONDO:0011055 distal monosomy 10p skos:exactMatch MEDGEN:321954 semapv:UnspecifiedMatching MONDO:0011055 distal monosomy 10p skos:exactMatch Orphanet:1580 Distal deletion 10p syndrome semapv:UnspecifiedMatching MONDO:0011055 distal monosomy 10p skos:exactMatch SCTID:719686003 semapv:UnspecifiedMatching MONDO:0011055 distal monosomy 10p skos:exactMatch UMLS:C1832431 semapv:UnspecifiedMatching MONDO:0011055 distal monosomy 10p skos:exactMatch mesh:C563337 semapv:UnspecifiedMatching MONDO:0011056 Wilms tumor 4 skos:exactMatch MEDGEN:318623 semapv:UnspecifiedMatching MONDO:0011056 Wilms tumor 4 skos:exactMatch OMIM:601363 wilms tumor 4 semapv:UnspecifiedMatching MONDO:0011056 Wilms tumor 4 skos:exactMatch UMLS:C1832426 semapv:UnspecifiedMatching MONDO:0011056 Wilms tumor 4 skos:exactMatch mesh:C563336 semapv:UnspecifiedMatching MONDO:0011057 cerebrovascular disorder skos:exactMatch DOID:6713 cerebrovascular disease semapv:UnspecifiedMatching MONDO:0011057 cerebrovascular disorder skos:exactMatch EFO:0003763 semapv:UnspecifiedMatching MONDO:0011057 cerebrovascular disorder skos:exactMatch ICD10CM:I60-I69 Cerebrovascular diseases (I60-I69) semapv:UnspecifiedMatching MONDO:0011057 cerebrovascular disorder skos:exactMatch MEDGEN:858 semapv:UnspecifiedMatching MONDO:0011057 cerebrovascular disorder skos:exactMatch NCIT:C2938 Cerebrovascular Disorder semapv:UnspecifiedMatching MONDO:0011057 cerebrovascular disorder skos:exactMatch SCTID:62914000 semapv:UnspecifiedMatching MONDO:0011057 cerebrovascular disorder skos:exactMatch UMLS:C0007820 semapv:UnspecifiedMatching MONDO:0011057 cerebrovascular disorder skos:exactMatch icd11.foundation:843843448 Cerebrovascular diseases semapv:UnspecifiedMatching MONDO:0011057 cerebrovascular disorder skos:exactMatch mesh:D002561 semapv:UnspecifiedMatching MONDO:0011058 autosomal dominant nonsyndromic hearing loss 9 skos:exactMatch DOID:0110593 autosomal dominant nonsyndromic deafness 9 semapv:UnspecifiedMatching MONDO:0011058 autosomal dominant nonsyndromic hearing loss 9 skos:exactMatch MEDGEN:371327 semapv:UnspecifiedMatching MONDO:0011058 autosomal dominant nonsyndromic hearing loss 9 skos:exactMatch OMIM:601369 deafness, autosomal dominant 9 semapv:UnspecifiedMatching MONDO:0011058 autosomal dominant nonsyndromic hearing loss 9 skos:exactMatch UMLS:C1832425 semapv:UnspecifiedMatching MONDO:0011058 autosomal dominant nonsyndromic hearing loss 9 skos:exactMatch mesh:C563335 semapv:UnspecifiedMatching MONDO:0011059 holoprosencephaly-craniosynostosis syndrome skos:exactMatch MEDGEN:330464 semapv:UnspecifiedMatching MONDO:0011059 holoprosencephaly-craniosynostosis syndrome skos:exactMatch OMIM:601370 holoprosencephaly, semilobar, with craniosynostosis semapv:UnspecifiedMatching MONDO:0011059 holoprosencephaly-craniosynostosis syndrome skos:exactMatch Orphanet:2163 Holoprosencephaly-craniosynostosis syndrome semapv:UnspecifiedMatching MONDO:0011059 holoprosencephaly-craniosynostosis syndrome skos:exactMatch SCTID:715434005 semapv:UnspecifiedMatching MONDO:0011059 holoprosencephaly-craniosynostosis syndrome skos:exactMatch UMLS:C1832424 semapv:UnspecifiedMatching MONDO:0011059 holoprosencephaly-craniosynostosis syndrome skos:exactMatch mesh:C537684 semapv:UnspecifiedMatching MONDO:0011060 early-onset non-syndromic cataract skos:exactMatch MEDGEN:371326 semapv:UnspecifiedMatching MONDO:0011060 early-onset non-syndromic cataract skos:exactMatch OMIM:601371 cataract, age-related nuclear semapv:UnspecifiedMatching MONDO:0011060 early-onset non-syndromic cataract skos:exactMatch Orphanet:91492 Early onset non-syndromic cataract semapv:UnspecifiedMatching MONDO:0011060 early-onset non-syndromic cataract skos:exactMatch UMLS:C1832423 semapv:UnspecifiedMatching MONDO:0011060 early-onset non-syndromic cataract skos:exactMatch icd11.foundation:1080602978 Congenital cataract semapv:UnspecifiedMatching MONDO:0011061 chorea, remitting, with nystagmus and cataract skos:exactMatch MEDGEN:330463 semapv:UnspecifiedMatching MONDO:0011061 chorea, remitting, with nystagmus and cataract skos:exactMatch OMIM:601372 chorea, remitting, with nystagmus and cataract semapv:UnspecifiedMatching MONDO:0011061 chorea, remitting, with nystagmus and cataract skos:exactMatch UMLS:C1832422 semapv:UnspecifiedMatching MONDO:0011061 chorea, remitting, with nystagmus and cataract skos:exactMatch mesh:C535355 semapv:UnspecifiedMatching MONDO:0011062 aprosencephaly cerebellar dysgenesis skos:exactMatch MEDGEN:330459 semapv:UnspecifiedMatching MONDO:0011062 aprosencephaly cerebellar dysgenesis skos:exactMatch OMIM:601374 aprosencephaly and cerebellar dysgenesis semapv:UnspecifiedMatching MONDO:0011062 aprosencephaly cerebellar dysgenesis skos:exactMatch Orphanet:1126 Aprosencephaly cerebellar dysgenesis semapv:UnspecifiedMatching MONDO:0011062 aprosencephaly cerebellar dysgenesis skos:exactMatch UMLS:C1832412 semapv:UnspecifiedMatching MONDO:0011062 aprosencephaly cerebellar dysgenesis skos:exactMatch mesh:C563331 semapv:UnspecifiedMatching MONDO:0011063 hidrotic ectodermal dysplasia, Christianson-Fourie type skos:exactMatch MEDGEN:371322 semapv:UnspecifiedMatching MONDO:0011063 hidrotic ectodermal dysplasia, Christianson-Fourie type skos:exactMatch OMIM:601375 ectodermal dysplasia, hidrotic, christianson-fourie type semapv:UnspecifiedMatching MONDO:0011063 hidrotic ectodermal dysplasia, Christianson-Fourie type skos:exactMatch Orphanet:1808 Hidrotic ectodermal dysplasia, Christianson-Fourie type semapv:UnspecifiedMatching MONDO:0011063 hidrotic ectodermal dysplasia, Christianson-Fourie type skos:exactMatch UMLS:C1832411 semapv:UnspecifiedMatching MONDO:0011063 hidrotic ectodermal dysplasia, Christianson-Fourie type skos:exactMatch icd11.foundation:661397711 Hidrotic ectodermal dysplasia, Christianson-Fourie type semapv:UnspecifiedMatching MONDO:0011063 hidrotic ectodermal dysplasia, Christianson-Fourie type skos:exactMatch mesh:C536180 semapv:UnspecifiedMatching MONDO:0011064 lethal chondrodysplasia, Seller type skos:exactMatch MEDGEN:318622 semapv:UnspecifiedMatching MONDO:0011064 lethal chondrodysplasia, Seller type skos:exactMatch OMIM:601376 chondrodysplasia, lethal, with long bone angulation and mixed bone density semapv:UnspecifiedMatching MONDO:0011064 lethal chondrodysplasia, Seller type skos:exactMatch UMLS:C1832410 semapv:UnspecifiedMatching MONDO:0011064 lethal chondrodysplasia, Seller type skos:exactMatch mesh:C563330 semapv:UnspecifiedMatching MONDO:0011065 Hunter-McAlpine craniosynostosis skos:exactMatch MEDGEN:321949 semapv:UnspecifiedMatching MONDO:0011065 Hunter-McAlpine craniosynostosis skos:exactMatch OMIM:601379 hunter-mcalpine craniosynostosis syndrome semapv:UnspecifiedMatching MONDO:0011065 Hunter-McAlpine craniosynostosis skos:exactMatch Orphanet:97340 Hunter-McAlpine syndrome semapv:UnspecifiedMatching MONDO:0011065 Hunter-McAlpine craniosynostosis skos:exactMatch SCTID:721227001 semapv:UnspecifiedMatching MONDO:0011065 Hunter-McAlpine craniosynostosis skos:exactMatch UMLS:C1832408 semapv:UnspecifiedMatching MONDO:0011065 Hunter-McAlpine craniosynostosis skos:exactMatch icd11.foundation:1445975694 Hunter-McAlpine craniosynostosis semapv:UnspecifiedMatching MONDO:0011065 Hunter-McAlpine craniosynostosis skos:exactMatch mesh:C536072 semapv:UnspecifiedMatching MONDO:0011066 Charcot-Marie-Tooth disease type 4B1 skos:exactMatch DOID:0110191 Charcot-Marie-Tooth disease type 4B1 semapv:UnspecifiedMatching MONDO:0011066 Charcot-Marie-Tooth disease type 4B1 skos:exactMatch MEDGEN:321947 semapv:UnspecifiedMatching MONDO:0011066 Charcot-Marie-Tooth disease type 4B1 skos:exactMatch OMIM:601382 charcot-marie-tooth disease, demyelinating, type 4b1 semapv:UnspecifiedMatching MONDO:0011066 Charcot-Marie-Tooth disease type 4B1 skos:exactMatch Orphanet:99955 Charcot-Marie-Tooth disease type 4B1 semapv:UnspecifiedMatching MONDO:0011066 Charcot-Marie-Tooth disease type 4B1 skos:exactMatch SCTID:715803003 semapv:UnspecifiedMatching MONDO:0011066 Charcot-Marie-Tooth disease type 4B1 skos:exactMatch UMLS:C1832399 semapv:UnspecifiedMatching MONDO:0011066 Charcot-Marie-Tooth disease type 4B1 skos:exactMatch icd11.foundation:776238355 Charcot-Marie-Tooth disease type 4B1 semapv:UnspecifiedMatching MONDO:0011066 Charcot-Marie-Tooth disease type 4B1 skos:exactMatch mesh:C535420 semapv:UnspecifiedMatching MONDO:0011067 autosomal recessive nonsyndromic hearing loss 12 skos:exactMatch DOID:0110467 autosomal recessive nonsyndromic deafness 12 semapv:UnspecifiedMatching MONDO:0011067 autosomal recessive nonsyndromic hearing loss 12 skos:exactMatch MEDGEN:330455 semapv:UnspecifiedMatching MONDO:0011067 autosomal recessive nonsyndromic hearing loss 12 skos:exactMatch OMIM:601386 deafness, autosomal recessive 12 semapv:UnspecifiedMatching MONDO:0011067 autosomal recessive nonsyndromic hearing loss 12 skos:exactMatch UMLS:C1832394 semapv:UnspecifiedMatching MONDO:0011067 autosomal recessive nonsyndromic hearing loss 12 skos:exactMatch mesh:C563327 semapv:UnspecifiedMatching MONDO:0011068 type 1 diabetes mellitus 12 skos:exactMatch DOID:0110751 type 1 diabetes mellitus 12 semapv:UnspecifiedMatching MONDO:0011068 type 1 diabetes mellitus 12 skos:exactMatch MEDGEN:318618 semapv:UnspecifiedMatching MONDO:0011068 type 1 diabetes mellitus 12 skos:exactMatch OMIM:601388 type 1 diabetes mellitus 12 semapv:UnspecifiedMatching MONDO:0011068 type 1 diabetes mellitus 12 skos:exactMatch UMLS:C1832392 semapv:UnspecifiedMatching MONDO:0011068 type 1 diabetes mellitus 12 skos:exactMatch mesh:C563326 semapv:UnspecifiedMatching MONDO:0011069 cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction skos:exactMatch MEDGEN:318617 semapv:UnspecifiedMatching MONDO:0011069 cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction skos:exactMatch OMIM:601389 cervical ribs, sprengel anomaly, anal atresia, and urethral obstruction semapv:UnspecifiedMatching MONDO:0011069 cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction skos:exactMatch UMLS:C1832391 semapv:UnspecifiedMatching MONDO:0011069 cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction skos:exactMatch mesh:C538072 semapv:UnspecifiedMatching MONDO:0011070 van Maldergem syndrome 1 skos:exactMatch DOID:0080585 Van Maldergem syndrome 1 semapv:UnspecifiedMatching MONDO:0011070 van Maldergem syndrome 1 skos:exactMatch MEDGEN:1644627 semapv:UnspecifiedMatching MONDO:0011070 van Maldergem syndrome 1 skos:exactMatch OMIM:601390 van maldergem syndrome 1 semapv:UnspecifiedMatching MONDO:0011070 van Maldergem syndrome 1 skos:exactMatch UMLS:C4551950 semapv:UnspecifiedMatching MONDO:0011071 hereditary thrombocytopenia and hematologic cancer predisposition syndrome skos:exactMatch NCIT:C162696 Familial Platelet Disorder with Associated Myeloid Malignancy semapv:UnspecifiedMatching MONDO:0011071 hereditary thrombocytopenia and hematologic cancer predisposition syndrome skos:exactMatch Orphanet:71290 Familial platelet disorder with associated myeloid malignancy semapv:UnspecifiedMatching MONDO:0011071 hereditary thrombocytopenia and hematologic cancer predisposition syndrome skos:exactMatch SCTID:725034002 semapv:UnspecifiedMatching MONDO:0011071 hereditary thrombocytopenia and hematologic cancer predisposition syndrome skos:exactMatch mesh:C563324 semapv:UnspecifiedMatching MONDO:0011072 diabetes mellitus, noninsulin-dependent, 2 skos:exactMatch MEDGEN:321944 semapv:UnspecifiedMatching MONDO:0011072 diabetes mellitus, noninsulin-dependent, 2 skos:exactMatch OMIM:601407 type 2 diabetes mellitus 2 semapv:UnspecifiedMatching MONDO:0011072 diabetes mellitus, noninsulin-dependent, 2 skos:exactMatch UMLS:C1832387 semapv:UnspecifiedMatching MONDO:0011072 diabetes mellitus, noninsulin-dependent, 2 skos:exactMatch mesh:C563323 semapv:UnspecifiedMatching MONDO:0011073 diabetes mellitus, transient neonatal, 1 skos:exactMatch DOID:0061173 transient neonatal diabetes mellitus 1 semapv:UnspecifiedMatching MONDO:0011073 diabetes mellitus, transient neonatal, 1 skos:exactMatch MEDGEN:371317 semapv:UnspecifiedMatching MONDO:0011073 diabetes mellitus, transient neonatal, 1 skos:exactMatch OMIM:601410 diabetes mellitus, transient neonatal, 1 semapv:UnspecifiedMatching MONDO:0011073 diabetes mellitus, transient neonatal, 1 skos:exactMatch Orphanet:99886 Transient neonatal diabetes mellitus semapv:UnspecifiedMatching MONDO:0011073 diabetes mellitus, transient neonatal, 1 skos:exactMatch SCTID:609579009 semapv:UnspecifiedMatching MONDO:0011073 diabetes mellitus, transient neonatal, 1 skos:exactMatch UMLS:C1832386 semapv:UnspecifiedMatching MONDO:0011073 diabetes mellitus, transient neonatal, 1 skos:exactMatch mesh:C563322 semapv:UnspecifiedMatching MONDO:0011074 autosomal dominant nonsyndromic hearing loss 7 skos:exactMatch DOID:0110591 autosomal dominant nonsyndromic deafness 7 semapv:UnspecifiedMatching MONDO:0011074 autosomal dominant nonsyndromic hearing loss 7 skos:exactMatch MEDGEN:318614 semapv:UnspecifiedMatching MONDO:0011074 autosomal dominant nonsyndromic hearing loss 7 skos:exactMatch OMIM:601412 deafness, autosomal dominant 7 semapv:UnspecifiedMatching MONDO:0011074 autosomal dominant nonsyndromic hearing loss 7 skos:exactMatch UMLS:C1832379 semapv:UnspecifiedMatching MONDO:0011074 autosomal dominant nonsyndromic hearing loss 7 skos:exactMatch mesh:C563321 semapv:UnspecifiedMatching MONDO:0011075 retinitis pigmentosa 18 skos:exactMatch DOID:0110356 retinitis pigmentosa 18 semapv:UnspecifiedMatching MONDO:0011075 retinitis pigmentosa 18 skos:exactMatch MEDGEN:371314 semapv:UnspecifiedMatching MONDO:0011075 retinitis pigmentosa 18 skos:exactMatch OMIM:601414 retinitis pigmentosa 18 semapv:UnspecifiedMatching MONDO:0011075 retinitis pigmentosa 18 skos:exactMatch UMLS:C1832378 semapv:UnspecifiedMatching MONDO:0011075 retinitis pigmentosa 18 skos:exactMatch mesh:C563320 semapv:UnspecifiedMatching MONDO:0011076 myofibrillar myopathy 1 skos:exactMatch DOID:0080092 myofibrillar myopathy 1 semapv:UnspecifiedMatching MONDO:0011076 myofibrillar myopathy 1 skos:exactMatch MEDGEN:330449 semapv:UnspecifiedMatching MONDO:0011076 myofibrillar myopathy 1 skos:exactMatch OMIM:601419 myopathy, myofibrillar, 1 semapv:UnspecifiedMatching MONDO:0011076 myofibrillar myopathy 1 skos:exactMatch Orphanet:98909 Desminopathy semapv:UnspecifiedMatching MONDO:0011076 myofibrillar myopathy 1 skos:exactMatch UMLS:C1832370 semapv:UnspecifiedMatching MONDO:0011077 microcephaly, corpus callosum dysgenesis, and cleft lip/palate skos:exactMatch MEDGEN:330448 semapv:UnspecifiedMatching MONDO:0011077 microcephaly, corpus callosum dysgenesis, and cleft lip/palate skos:exactMatch OMIM:601420 microcephaly, corpus callosum dysgenesis, and cleft lip/palate semapv:UnspecifiedMatching MONDO:0011077 microcephaly, corpus callosum dysgenesis, and cleft lip/palate skos:exactMatch UMLS:C1832369 semapv:UnspecifiedMatching MONDO:0011077 microcephaly, corpus callosum dysgenesis, and cleft lip/palate skos:exactMatch mesh:C537547 semapv:UnspecifiedMatching MONDO:0011078 anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis skos:exactMatch MEDGEN:316973 semapv:UnspecifiedMatching MONDO:0011078 anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis skos:exactMatch OMIM:601427 anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis semapv:UnspecifiedMatching MONDO:0011078 anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis skos:exactMatch Orphanet:2321 Jung syndrome semapv:UnspecifiedMatching MONDO:0011078 anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis skos:exactMatch UMLS:C1832362 semapv:UnspecifiedMatching MONDO:0011078 anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis skos:exactMatch mesh:C537694 semapv:UnspecifiedMatching MONDO:0011079 rhizomelic dysplasia, Patterson-Lowry type skos:exactMatch MEDGEN:321940 semapv:UnspecifiedMatching MONDO:0011079 rhizomelic dysplasia, Patterson-Lowry type skos:exactMatch OMIM:601438 rhizomelic dysplasia, patterson-lowry type semapv:UnspecifiedMatching MONDO:0011079 rhizomelic dysplasia, Patterson-Lowry type skos:exactMatch Orphanet:2831 Rhizomelic dysplasia, Patterson-Lowry type semapv:UnspecifiedMatching MONDO:0011079 rhizomelic dysplasia, Patterson-Lowry type skos:exactMatch SCTID:715505002 semapv:UnspecifiedMatching MONDO:0011079 rhizomelic dysplasia, Patterson-Lowry type skos:exactMatch UMLS:C1832359 semapv:UnspecifiedMatching MONDO:0011079 rhizomelic dysplasia, Patterson-Lowry type skos:exactMatch icd11.foundation:1681747199 Rhizomelic dysplasia, Patterson-Lowry type semapv:UnspecifiedMatching MONDO:0011079 rhizomelic dysplasia, Patterson-Lowry type skos:exactMatch mesh:C537609 semapv:UnspecifiedMatching MONDO:0011080 progressive deafness with stapes fixation skos:exactMatch MEDGEN:330446 semapv:UnspecifiedMatching MONDO:0011080 progressive deafness with stapes fixation skos:exactMatch OMIM:601449 deafness, progressive, with stapes fixation semapv:UnspecifiedMatching MONDO:0011080 progressive deafness with stapes fixation skos:exactMatch Orphanet:3235 Progressive deafness with stapes fixation semapv:UnspecifiedMatching MONDO:0011080 progressive deafness with stapes fixation skos:exactMatch SCTID:715529009 semapv:UnspecifiedMatching MONDO:0011080 progressive deafness with stapes fixation skos:exactMatch UMLS:C1832354 semapv:UnspecifiedMatching MONDO:0011080 progressive deafness with stapes fixation skos:exactMatch icd11.foundation:1909954882 Progressive deafness with stapes fixation semapv:UnspecifiedMatching MONDO:0011080 progressive deafness with stapes fixation skos:exactMatch mesh:C563316 semapv:UnspecifiedMatching MONDO:0011081 dislocation of the hip-dysmorphism syndrome skos:exactMatch MEDGEN:316970 semapv:UnspecifiedMatching MONDO:0011081 dislocation of the hip-dysmorphism syndrome skos:exactMatch OMIM:601450 dislocation of hip, congenital, with hyperextensibility of fingers and facial dysmorphism semapv:UnspecifiedMatching MONDO:0011081 dislocation of the hip-dysmorphism syndrome skos:exactMatch Orphanet:2412 Dislocation of the hip-dysmorphism syndrome semapv:UnspecifiedMatching MONDO:0011081 dislocation of the hip-dysmorphism syndrome skos:exactMatch SCTID:763755009 semapv:UnspecifiedMatching MONDO:0011081 dislocation of the hip-dysmorphism syndrome skos:exactMatch UMLS:C1832353 semapv:UnspecifiedMatching MONDO:0011081 dislocation of the hip-dysmorphism syndrome skos:exactMatch mesh:C563315 semapv:UnspecifiedMatching MONDO:0011082 oculoauriculofrontonasal syndrome skos:exactMatch MEDGEN:316969 semapv:UnspecifiedMatching MONDO:0011082 oculoauriculofrontonasal syndrome skos:exactMatch OMIM:601452 oculoauriculofrontonasal syndrome semapv:UnspecifiedMatching MONDO:0011082 oculoauriculofrontonasal syndrome skos:exactMatch Orphanet:398156 Oculoauriculofrontonasal syndrome semapv:UnspecifiedMatching MONDO:0011082 oculoauriculofrontonasal syndrome skos:exactMatch UMLS:C1832352 semapv:UnspecifiedMatching MONDO:0011082 oculoauriculofrontonasal syndrome skos:exactMatch mesh:C537865 semapv:UnspecifiedMatching MONDO:0011083 trichodental syndrome skos:exactMatch MEDGEN:96068 semapv:UnspecifiedMatching MONDO:0011083 trichodental syndrome skos:exactMatch OMIM:601453 trichodental dysplasia semapv:UnspecifiedMatching MONDO:0011083 trichodental syndrome skos:exactMatch Orphanet:3351 Trichodental syndrome semapv:UnspecifiedMatching MONDO:0011083 trichodental syndrome skos:exactMatch SCTID:277810000 semapv:UnspecifiedMatching MONDO:0011083 trichodental syndrome skos:exactMatch UMLS:C0406724 semapv:UnspecifiedMatching MONDO:0011083 trichodental syndrome skos:exactMatch icd11.foundation:944650339 Trichodental syndrome semapv:UnspecifiedMatching MONDO:0011083 trichodental syndrome skos:exactMatch mesh:C536551 semapv:UnspecifiedMatching MONDO:0011084 psoriasis 3, susceptibility to skos:exactMatch DOID:0111283 psoriasis 3 semapv:UnspecifiedMatching MONDO:0011084 psoriasis 3, susceptibility to skos:exactMatch MEDGEN:316964 semapv:UnspecifiedMatching MONDO:0011084 psoriasis 3, susceptibility to skos:exactMatch OMIM:601454 psoriasis 3, susceptibility to semapv:UnspecifiedMatching MONDO:0011084 psoriasis 3, susceptibility to skos:exactMatch UMLS:C1832345 semapv:UnspecifiedMatching MONDO:0011085 Charcot-Marie-Tooth disease type 4D skos:exactMatch DOID:0110186 Charcot-Marie-Tooth disease type 4D semapv:UnspecifiedMatching MONDO:0011085 Charcot-Marie-Tooth disease type 4D skos:exactMatch MEDGEN:371304 semapv:UnspecifiedMatching MONDO:0011085 Charcot-Marie-Tooth disease type 4D skos:exactMatch OMIM:601455 charcot-marie-tooth disease, demyelinating, type 4d semapv:UnspecifiedMatching MONDO:0011085 Charcot-Marie-Tooth disease type 4D skos:exactMatch Orphanet:99950 Charcot-Marie-Tooth disease type 4D semapv:UnspecifiedMatching MONDO:0011085 Charcot-Marie-Tooth disease type 4D skos:exactMatch SCTID:715798007 semapv:UnspecifiedMatching MONDO:0011085 Charcot-Marie-Tooth disease type 4D skos:exactMatch UMLS:C1832334 semapv:UnspecifiedMatching MONDO:0011085 Charcot-Marie-Tooth disease type 4D skos:exactMatch icd11.foundation:616686295 Charcot-Marie-Tooth disease type 4D semapv:UnspecifiedMatching MONDO:0011085 Charcot-Marie-Tooth disease type 4D skos:exactMatch mesh:C535716 semapv:UnspecifiedMatching MONDO:0011086 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive skos:exactMatch DOID:0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive semapv:UnspecifiedMatching MONDO:0011086 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive skos:exactMatch MEDGEN:321935 semapv:UnspecifiedMatching MONDO:0011086 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive skos:exactMatch OMIM:601457 severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-negative, nk cell-positive semapv:UnspecifiedMatching MONDO:0011086 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive skos:exactMatch Orphanet:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency semapv:UnspecifiedMatching MONDO:0011086 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive skos:exactMatch UMLS:C1832322 semapv:UnspecifiedMatching MONDO:0011086 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive skos:exactMatch mesh:C563311 semapv:UnspecifiedMatching MONDO:0011087 inflammatory bowel disease 2 skos:exactMatch DOID:0110900 inflammatory bowel disease 2 semapv:UnspecifiedMatching MONDO:0011087 inflammatory bowel disease 2 skos:exactMatch MEDGEN:321934 semapv:UnspecifiedMatching MONDO:0011087 inflammatory bowel disease 2 skos:exactMatch OMIM:601458 inflammatory bowel disease 2 semapv:UnspecifiedMatching MONDO:0011087 inflammatory bowel disease 2 skos:exactMatch UMLS:C1832321 semapv:UnspecifiedMatching MONDO:0011087 inflammatory bowel disease 2 skos:exactMatch mesh:C563310 semapv:UnspecifiedMatching MONDO:0011088 congenital myasthenic syndrome 1A skos:exactMatch DOID:0110663 congenital myasthenic syndrome 1A semapv:UnspecifiedMatching MONDO:0011088 congenital myasthenic syndrome 1A skos:exactMatch MEDGEN:419336 semapv:UnspecifiedMatching MONDO:0011088 congenital myasthenic syndrome 1A skos:exactMatch OMIM:601462 myasthenic syndrome, congenital, 1a, slow-channel semapv:UnspecifiedMatching MONDO:0011088 congenital myasthenic syndrome 1A skos:exactMatch UMLS:C2931107 semapv:UnspecifiedMatching MONDO:0011089 patent ductus venosus skos:exactMatch MEDGEN:91033 semapv:UnspecifiedMatching MONDO:0011089 patent ductus venosus skos:exactMatch OMIM:601466 patent ductus venosus semapv:UnspecifiedMatching MONDO:0011089 patent ductus venosus skos:exactMatch SCTID:253330006 semapv:UnspecifiedMatching MONDO:0011089 patent ductus venosus skos:exactMatch UMLS:C0344688 semapv:UnspecifiedMatching MONDO:0011089 patent ductus venosus skos:exactMatch mesh:C562830 semapv:UnspecifiedMatching MONDO:0011090 isolated hereditary congenital facial paralysis skos:exactMatch MEDGEN:1381843 semapv:UnspecifiedMatching MONDO:0011090 isolated hereditary congenital facial paralysis skos:exactMatch OMIMPS:601471 Facial paresis, hereditary congenital semapv:UnspecifiedMatching MONDO:0011090 isolated hereditary congenital facial paralysis skos:exactMatch Orphanet:306527 Isolated hereditary congenital facial paralysis semapv:UnspecifiedMatching MONDO:0011090 isolated hereditary congenital facial paralysis skos:exactMatch SCTID:733091002 semapv:UnspecifiedMatching MONDO:0011090 isolated hereditary congenital facial paralysis skos:exactMatch UMLS:C4518577 semapv:UnspecifiedMatching MONDO:0011090 isolated hereditary congenital facial paralysis skos:exactMatch mesh:C563309 semapv:UnspecifiedMatching MONDO:0011091 Charcot-Marie-Tooth disease type 2D skos:exactMatch DOID:0110164 Charcot-Marie-Tooth disease type 2D semapv:UnspecifiedMatching MONDO:0011091 Charcot-Marie-Tooth disease type 2D skos:exactMatch MEDGEN:316946 semapv:UnspecifiedMatching MONDO:0011091 Charcot-Marie-Tooth disease type 2D skos:exactMatch NCIT:C122659 Charcot-Marie-Tooth Disease Type 2D semapv:UnspecifiedMatching MONDO:0011091 Charcot-Marie-Tooth disease type 2D skos:exactMatch OMIM:601472 charcot-marie-tooth disease, axonal, type 2d semapv:UnspecifiedMatching MONDO:0011091 Charcot-Marie-Tooth disease type 2D skos:exactMatch Orphanet:99938 Autosomal dominant Charcot-Marie-Tooth disease type 2D semapv:UnspecifiedMatching MONDO:0011091 Charcot-Marie-Tooth disease type 2D skos:exactMatch SCTID:717011006 semapv:UnspecifiedMatching MONDO:0011091 Charcot-Marie-Tooth disease type 2D skos:exactMatch UMLS:C1832274 semapv:UnspecifiedMatching MONDO:0011091 Charcot-Marie-Tooth disease type 2D skos:exactMatch icd11.foundation:1617529678 Charcot-Marie-Tooth disease type 2D semapv:UnspecifiedMatching MONDO:0011091 Charcot-Marie-Tooth disease type 2D skos:exactMatch mesh:C537993 semapv:UnspecifiedMatching MONDO:0011092 ribbing disease skos:exactMatch MEDGEN:321923 semapv:UnspecifiedMatching MONDO:0011092 ribbing disease skos:exactMatch OMIM:601477 ribbing disease semapv:UnspecifiedMatching MONDO:0011092 ribbing disease skos:exactMatch UMLS:C1832273 semapv:UnspecifiedMatching MONDO:0011092 ribbing disease skos:exactMatch mesh:C537613 semapv:UnspecifiedMatching MONDO:0011093 mucopolysaccharidosis type 9 skos:exactMatch DOID:0050809 mucopolysaccharidosis IX semapv:UnspecifiedMatching MONDO:0011093 mucopolysaccharidosis type 9 skos:exactMatch MEDGEN:226942 semapv:UnspecifiedMatching MONDO:0011093 mucopolysaccharidosis type 9 skos:exactMatch NCIT:C129073 Mucopolysaccharidosis Type IX semapv:UnspecifiedMatching MONDO:0011093 mucopolysaccharidosis type 9 skos:exactMatch OMIM:601492 mucopolysaccharidosis, type 9 semapv:UnspecifiedMatching MONDO:0011093 mucopolysaccharidosis type 9 skos:exactMatch Orphanet:67041 Hyaluronidase deficiency semapv:UnspecifiedMatching MONDO:0011093 mucopolysaccharidosis type 9 skos:exactMatch SCTID:124473006 semapv:UnspecifiedMatching MONDO:0011093 mucopolysaccharidosis type 9 skos:exactMatch UMLS:C1291490 semapv:UnspecifiedMatching MONDO:0011093 mucopolysaccharidosis type 9 skos:exactMatch icd11.foundation:952591271 Mucopolysaccharidosis type 9 semapv:UnspecifiedMatching MONDO:0011093 mucopolysaccharidosis type 9 skos:exactMatch mesh:C563209 semapv:UnspecifiedMatching MONDO:0011094 dilated cardiomyopathy 1C skos:exactMatch DOID:0110423 dilated cardiomyopathy 1C semapv:UnspecifiedMatching MONDO:0011094 dilated cardiomyopathy 1C skos:exactMatch MEDGEN:316944 semapv:UnspecifiedMatching MONDO:0011094 dilated cardiomyopathy 1C skos:exactMatch NCIT:C170436 Dilated Cardiomyopathy-1C semapv:UnspecifiedMatching MONDO:0011094 dilated cardiomyopathy 1C skos:exactMatch OMIM:601493 cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction semapv:UnspecifiedMatching MONDO:0011094 dilated cardiomyopathy 1C skos:exactMatch UMLS:C1832244 semapv:UnspecifiedMatching MONDO:0011094 dilated cardiomyopathy 1C skos:exactMatch mesh:C563307 semapv:UnspecifiedMatching MONDO:0011095 dilated cardiomyopathy 1D skos:exactMatch DOID:0110426 dilated cardiomyopathy 1D semapv:UnspecifiedMatching MONDO:0011095 dilated cardiomyopathy 1D skos:exactMatch MEDGEN:316943 semapv:UnspecifiedMatching MONDO:0011095 dilated cardiomyopathy 1D skos:exactMatch OMIM:601494 cardiomyopathy, dilated, 1d semapv:UnspecifiedMatching MONDO:0011095 dilated cardiomyopathy 1D skos:exactMatch UMLS:C1832243 semapv:UnspecifiedMatching MONDO:0011095 dilated cardiomyopathy 1D skos:exactMatch mesh:C563306 semapv:UnspecifiedMatching MONDO:0011096 autosomal agammaglobulinemia skos:exactMatch MEDGEN:316941 semapv:UnspecifiedMatching MONDO:0011096 autosomal agammaglobulinemia skos:exactMatch Orphanet:33110 Autosomal non-syndromic agammaglobulinemia semapv:UnspecifiedMatching MONDO:0011096 autosomal agammaglobulinemia skos:exactMatch UMLS:C1832241 semapv:UnspecifiedMatching MONDO:0011096 autosomal agammaglobulinemia skos:exactMatch mesh:C538056 semapv:UnspecifiedMatching MONDO:0011097 Axenfeld-Rieger syndrome type 2 skos:exactMatch DOID:0110121 Axenfeld-Rieger syndrome type 2 semapv:UnspecifiedMatching MONDO:0011097 Axenfeld-Rieger syndrome type 2 skos:exactMatch MEDGEN:316937 semapv:UnspecifiedMatching MONDO:0011097 Axenfeld-Rieger syndrome type 2 skos:exactMatch OMIM:601499 axenfeld-rieger syndrome, type 2 semapv:UnspecifiedMatching MONDO:0011097 Axenfeld-Rieger syndrome type 2 skos:exactMatch UMLS:C1832229 semapv:UnspecifiedMatching MONDO:0011097 Axenfeld-Rieger syndrome type 2 skos:exactMatch mesh:C535680 semapv:UnspecifiedMatching MONDO:0011098 prostate cancer, hereditary, 1 skos:exactMatch MEDGEN:1648436 semapv:UnspecifiedMatching MONDO:0011098 prostate cancer, hereditary, 1 skos:exactMatch OMIM:601518 prostate cancer, hereditary, 1 semapv:UnspecifiedMatching MONDO:0011098 prostate cancer, hereditary, 1 skos:exactMatch UMLS:C4722327 semapv:UnspecifiedMatching MONDO:0011099 human HOXA1 syndromes skos:exactMatch DOID:0050682 Athabaskan brainstem dysgenesis syndrome semapv:UnspecifiedMatching MONDO:0011099 human HOXA1 syndromes skos:exactMatch MEDGEN:330410 semapv:UnspecifiedMatching MONDO:0011099 human HOXA1 syndromes skos:exactMatch OMIM:601536 athabaskan brainstem dysgenesis syndrome semapv:UnspecifiedMatching MONDO:0011099 human HOXA1 syndromes skos:exactMatch Orphanet:69739 Athabaskan brainstem dysgenesis syndrome semapv:UnspecifiedMatching MONDO:0011099 human HOXA1 syndromes skos:exactMatch SCTID:720518006 semapv:UnspecifiedMatching MONDO:0011099 human HOXA1 syndromes skos:exactMatch UMLS:C1832215 semapv:UnspecifiedMatching MONDO:0011100 microcephaly, retinitis pigmentosa, and sutural cataract skos:exactMatch MEDGEN:316936 semapv:UnspecifiedMatching MONDO:0011100 microcephaly, retinitis pigmentosa, and sutural cataract skos:exactMatch OMIM:601537 microcephaly, retinitis pigmentosa, and sutural cataract semapv:UnspecifiedMatching MONDO:0011100 microcephaly, retinitis pigmentosa, and sutural cataract skos:exactMatch UMLS:C1832214 semapv:UnspecifiedMatching MONDO:0011100 microcephaly, retinitis pigmentosa, and sutural cataract skos:exactMatch mesh:C563296 semapv:UnspecifiedMatching MONDO:0011101 peroxisome biogenesis disorder 1B skos:exactMatch DOID:0081240 peroxisome biogenesis disorder 1B semapv:UnspecifiedMatching MONDO:0011101 peroxisome biogenesis disorder 1B skos:exactMatch MEDGEN:79470 semapv:UnspecifiedMatching MONDO:0011101 peroxisome biogenesis disorder 1B skos:exactMatch NCIT:C155749 Peroxisome Biogenesis Disorder 1B semapv:UnspecifiedMatching MONDO:0011101 peroxisome biogenesis disorder 1B skos:exactMatch OMIM:601539 peroxisome biogenesis disorder 1b semapv:UnspecifiedMatching MONDO:0011101 peroxisome biogenesis disorder 1B skos:exactMatch UMLS:C0282527 semapv:UnspecifiedMatching MONDO:0011102 autosomal dominant nonsyndromic hearing loss 12 skos:exactMatch DOID:0110544 autosomal dominant nonsyndromic deafness 12 semapv:UnspecifiedMatching MONDO:0011102 autosomal dominant nonsyndromic hearing loss 12 skos:exactMatch MEDGEN:321902 semapv:UnspecifiedMatching MONDO:0011102 autosomal dominant nonsyndromic hearing loss 12 skos:exactMatch OMIM:601543 deafness, autosomal dominant 12 semapv:UnspecifiedMatching MONDO:0011102 autosomal dominant nonsyndromic hearing loss 12 skos:exactMatch UMLS:C1832187 semapv:UnspecifiedMatching MONDO:0011102 autosomal dominant nonsyndromic hearing loss 12 skos:exactMatch mesh:C563295 semapv:UnspecifiedMatching MONDO:0011103 autosomal dominant nonsyndromic hearing loss 3A skos:exactMatch DOID:0110564 autosomal dominant nonsyndromic deafness 3A semapv:UnspecifiedMatching MONDO:0011103 autosomal dominant nonsyndromic hearing loss 3A skos:exactMatch MEDGEN:436512 semapv:UnspecifiedMatching MONDO:0011103 autosomal dominant nonsyndromic hearing loss 3A skos:exactMatch OMIM:601544 deafness, autosomal dominant 3a semapv:UnspecifiedMatching MONDO:0011103 autosomal dominant nonsyndromic hearing loss 3A skos:exactMatch UMLS:C2675750 semapv:UnspecifiedMatching MONDO:0011103 autosomal dominant nonsyndromic hearing loss 3A skos:exactMatch mesh:C567277 semapv:UnspecifiedMatching MONDO:0011104 cataract 3 multiple types skos:exactMatch DOID:0110269 cataract 3 multiple types semapv:UnspecifiedMatching MONDO:0011104 cataract 3 multiple types skos:exactMatch MEDGEN:321901 semapv:UnspecifiedMatching MONDO:0011104 cataract 3 multiple types skos:exactMatch OMIM:601547 cataract 3, multiple types semapv:UnspecifiedMatching MONDO:0011104 cataract 3 multiple types skos:exactMatch UMLS:C1832175 semapv:UnspecifiedMatching MONDO:0011104 cataract 3 multiple types skos:exactMatch mesh:C563294 semapv:UnspecifiedMatching MONDO:0011105 alacrima, congenital, autosomal recessive skos:exactMatch MEDGEN:861034 semapv:UnspecifiedMatching MONDO:0011105 alacrima, congenital, autosomal recessive skos:exactMatch OMIM:601549 alacrima, congenital, autosomal recessive semapv:UnspecifiedMatching MONDO:0011105 alacrima, congenital, autosomal recessive skos:exactMatch UMLS:C4012597 semapv:UnspecifiedMatching MONDO:0011106 facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome skos:exactMatch MEDGEN:330396 semapv:UnspecifiedMatching MONDO:0011106 facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome skos:exactMatch OMIM:601552 traboulsi syndrome semapv:UnspecifiedMatching MONDO:0011106 facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome skos:exactMatch Orphanet:412022 Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome semapv:UnspecifiedMatching MONDO:0011106 facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome skos:exactMatch UMLS:C1832167 semapv:UnspecifiedMatching MONDO:0011106 facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome skos:exactMatch mesh:C563293 semapv:UnspecifiedMatching MONDO:0011107 congenital hypotrichosis with juvenile macular dystrophy skos:exactMatch DOID:0110711 congenital hypotrichosis with juvenile macular dystrophy semapv:UnspecifiedMatching MONDO:0011107 congenital hypotrichosis with juvenile macular dystrophy skos:exactMatch MEDGEN:316921 semapv:UnspecifiedMatching MONDO:0011107 congenital hypotrichosis with juvenile macular dystrophy skos:exactMatch OMIM:601553 hypotrichosis, congenital, with juvenile macular dystrophy semapv:UnspecifiedMatching MONDO:0011107 congenital hypotrichosis with juvenile macular dystrophy skos:exactMatch Orphanet:1573 Hypotrichosis with juvenile macular degeneration semapv:UnspecifiedMatching MONDO:0011107 congenital hypotrichosis with juvenile macular dystrophy skos:exactMatch UMLS:C1832162 semapv:UnspecifiedMatching MONDO:0011107 congenital hypotrichosis with juvenile macular dystrophy skos:exactMatch mesh:C537698 semapv:UnspecifiedMatching MONDO:0011109 multiple epiphyseal dysplasia, Lowry type skos:exactMatch MEDGEN:321890 semapv:UnspecifiedMatching MONDO:0011109 multiple epiphyseal dysplasia, Lowry type skos:exactMatch OMIM:601560 multiple epiphyseal dysplasia with robin phenotype semapv:UnspecifiedMatching MONDO:0011109 multiple epiphyseal dysplasia, Lowry type skos:exactMatch Orphanet:166016 Multiple epiphyseal dysplasia, Lowry type semapv:UnspecifiedMatching MONDO:0011109 multiple epiphyseal dysplasia, Lowry type skos:exactMatch SCTID:768935003 semapv:UnspecifiedMatching MONDO:0011109 multiple epiphyseal dysplasia, Lowry type skos:exactMatch UMLS:C1832112 semapv:UnspecifiedMatching MONDO:0011109 multiple epiphyseal dysplasia, Lowry type skos:exactMatch mesh:C563291 semapv:UnspecifiedMatching MONDO:0011110 dyssegmental dysplasia-glaucoma syndrome skos:exactMatch MEDGEN:330382 semapv:UnspecifiedMatching MONDO:0011110 dyssegmental dysplasia-glaucoma syndrome skos:exactMatch OMIM:601561 dyssegmental dysplasia with glaucoma semapv:UnspecifiedMatching MONDO:0011110 dyssegmental dysplasia-glaucoma syndrome skos:exactMatch UMLS:C1832111 semapv:UnspecifiedMatching MONDO:0011110 dyssegmental dysplasia-glaucoma syndrome skos:exactMatch mesh:C563290 semapv:UnspecifiedMatching MONDO:0011111 obsolete horns in sheep skos:exactMatch OMIM:601563 semapv:UnspecifiedMatching MONDO:0011112 Wilms tumor 5 skos:exactMatch MEDGEN:316905 semapv:UnspecifiedMatching MONDO:0011112 Wilms tumor 5 skos:exactMatch OMIM:601583 wilms tumor 5 semapv:UnspecifiedMatching MONDO:0011112 Wilms tumor 5 skos:exactMatch UMLS:C1832099 semapv:UnspecifiedMatching MONDO:0011112 Wilms tumor 5 skos:exactMatch mesh:C536707 semapv:UnspecifiedMatching MONDO:0011113 Charcot-Marie-Tooth disease type 4C skos:exactMatch DOID:0110183 Charcot-Marie-Tooth disease type 4C semapv:UnspecifiedMatching MONDO:0011113 Charcot-Marie-Tooth disease type 4C skos:exactMatch MEDGEN:356581 semapv:UnspecifiedMatching MONDO:0011113 Charcot-Marie-Tooth disease type 4C skos:exactMatch NCIT:C129864 Charcot-Marie-Tooth Disease Type 4C semapv:UnspecifiedMatching MONDO:0011113 Charcot-Marie-Tooth disease type 4C skos:exactMatch OMIM:601596 charcot-marie-tooth disease, demyelinating, type 4c semapv:UnspecifiedMatching MONDO:0011113 Charcot-Marie-Tooth disease type 4C skos:exactMatch Orphanet:99949 Charcot-Marie-Tooth disease type 4C semapv:UnspecifiedMatching MONDO:0011113 Charcot-Marie-Tooth disease type 4C skos:exactMatch SCTID:715797002 semapv:UnspecifiedMatching MONDO:0011113 Charcot-Marie-Tooth disease type 4C skos:exactMatch UMLS:C1866636 semapv:UnspecifiedMatching MONDO:0011113 Charcot-Marie-Tooth disease type 4C skos:exactMatch icd11.foundation:382219984 Charcot-Marie-Tooth disease type 4C semapv:UnspecifiedMatching MONDO:0011113 Charcot-Marie-Tooth disease type 4C skos:exactMatch mesh:C535423 semapv:UnspecifiedMatching MONDO:0011114 familial multiple trichoepithelioma skos:exactMatch MEDGEN:220890 semapv:UnspecifiedMatching MONDO:0011114 familial multiple trichoepithelioma skos:exactMatch NCIT:C205364 Familial Multiple Trichoepitheliomas semapv:UnspecifiedMatching MONDO:0011114 familial multiple trichoepithelioma skos:exactMatch Orphanet:867 Familial multiple trichoepithelioma semapv:UnspecifiedMatching MONDO:0011114 familial multiple trichoepithelioma skos:exactMatch SCTID:403825008 semapv:UnspecifiedMatching MONDO:0011114 familial multiple trichoepithelioma skos:exactMatch UMLS:C1275122 semapv:UnspecifiedMatching MONDO:0011115 spastic paraplegia and Evans syndrome skos:exactMatch MEDGEN:355764 semapv:UnspecifiedMatching MONDO:0011115 spastic paraplegia and Evans syndrome skos:exactMatch OMIM:601608 spastic paraplegia and evans syndrome semapv:UnspecifiedMatching MONDO:0011115 spastic paraplegia and Evans syndrome skos:exactMatch UMLS:C1866619 semapv:UnspecifiedMatching MONDO:0011115 spastic paraplegia and Evans syndrome skos:exactMatch mesh:C566652 semapv:UnspecifiedMatching MONDO:0011116 lung agenesis-heart defect-thumb anomalies syndrome skos:exactMatch MEDGEN:477585 semapv:UnspecifiedMatching MONDO:0011116 lung agenesis-heart defect-thumb anomalies syndrome skos:exactMatch OMIM:601612 lung agenesis, congenital heart defects, and thumb anomalies syndrome semapv:UnspecifiedMatching MONDO:0011116 lung agenesis-heart defect-thumb anomalies syndrome skos:exactMatch Orphanet:1120 Lung agenesis-heart defect-thumb anomalies syndrome semapv:UnspecifiedMatching MONDO:0011116 lung agenesis-heart defect-thumb anomalies syndrome skos:exactMatch SCTID:721976003 semapv:UnspecifiedMatching MONDO:0011116 lung agenesis-heart defect-thumb anomalies syndrome skos:exactMatch UMLS:C3275954 semapv:UnspecifiedMatching MONDO:0011116 lung agenesis-heart defect-thumb anomalies syndrome skos:exactMatch mesh:C535708 semapv:UnspecifiedMatching MONDO:0011117 iris pigment epithelium anomalies skos:exactMatch MEDGEN:357091 semapv:UnspecifiedMatching MONDO:0011117 iris pigment epithelium anomalies skos:exactMatch OMIM:601616 iris pigment epithelium anomalies semapv:UnspecifiedMatching MONDO:0011117 iris pigment epithelium anomalies skos:exactMatch UMLS:C1866608 semapv:UnspecifiedMatching MONDO:0011117 iris pigment epithelium anomalies skos:exactMatch mesh:C566651 semapv:UnspecifiedMatching MONDO:0011118 bilineal acute myeloid leukemia skos:exactMatch MEDGEN:87614 semapv:UnspecifiedMatching MONDO:0011118 bilineal acute myeloid leukemia skos:exactMatch NCIT:C6923 Acute Bilineal Leukemia semapv:UnspecifiedMatching MONDO:0011118 bilineal acute myeloid leukemia skos:exactMatch UMLS:C0349680 semapv:UnspecifiedMatching MONDO:0011119 iridogoniodysgenesis skos:exactMatch MEDGEN:861486 semapv:UnspecifiedMatching MONDO:0011119 iridogoniodysgenesis skos:exactMatch Orphanet:98634 Anterior segment developmental anomaly without extraocular manifestations semapv:UnspecifiedMatching MONDO:0011119 iridogoniodysgenesis skos:exactMatch UMLS:C4013049 semapv:UnspecifiedMatching MONDO:0011119 iridogoniodysgenesis skos:exactMatch icd11.foundation:2030725523 Iridogoniodysgenesis semapv:UnspecifiedMatching MONDO:0011120 neural tube defects, folate-sensitive skos:exactMatch MEDGEN:355746 semapv:UnspecifiedMatching MONDO:0011120 neural tube defects, folate-sensitive skos:exactMatch OMIM:601634 neural tube defects, folate-sensitive semapv:UnspecifiedMatching MONDO:0011120 neural tube defects, folate-sensitive skos:exactMatch UMLS:C1866558 semapv:UnspecifiedMatching MONDO:0011120 neural tube defects, folate-sensitive skos:exactMatch mesh:C536409 semapv:UnspecifiedMatching MONDO:0011121 pheochromocytoma/paraganglioma syndrome 2 skos:exactMatch DOID:0061217 pheochromocytoma/paraganglioma syndrome 2 semapv:UnspecifiedMatching MONDO:0011121 pheochromocytoma/paraganglioma syndrome 2 skos:exactMatch MEDGEN:357076 semapv:UnspecifiedMatching MONDO:0011121 pheochromocytoma/paraganglioma syndrome 2 skos:exactMatch OMIM:601650 pheochromocytoma/paraganglioma syndrome 2 semapv:UnspecifiedMatching MONDO:0011121 pheochromocytoma/paraganglioma syndrome 2 skos:exactMatch UMLS:C1866552 semapv:UnspecifiedMatching MONDO:0011121 pheochromocytoma/paraganglioma syndrome 2 skos:exactMatch mesh:C566646 semapv:UnspecifiedMatching MONDO:0011122 obesity disorder skos:exactMatch DOID:9970 obesity semapv:UnspecifiedMatching MONDO:0011122 obesity disorder skos:exactMatch EFO:0001073 semapv:UnspecifiedMatching MONDO:0011122 obesity disorder skos:exactMatch MEDGEN:18127 semapv:UnspecifiedMatching MONDO:0011122 obesity disorder skos:exactMatch NCIT:C3283 Obesity semapv:UnspecifiedMatching MONDO:0011122 obesity disorder skos:exactMatch SCTID:414916001 semapv:UnspecifiedMatching MONDO:0011122 obesity disorder skos:exactMatch UMLS:C0028754 semapv:UnspecifiedMatching MONDO:0011123 type 1 diabetes mellitus 15 skos:exactMatch DOID:0110753 type 1 diabetes mellitus 15 semapv:UnspecifiedMatching MONDO:0011123 type 1 diabetes mellitus 15 skos:exactMatch MEDGEN:401019 semapv:UnspecifiedMatching MONDO:0011123 type 1 diabetes mellitus 15 skos:exactMatch OMIM:601666 type 1 diabetes mellitus 15 semapv:UnspecifiedMatching MONDO:0011123 type 1 diabetes mellitus 15 skos:exactMatch UMLS:C1866519 semapv:UnspecifiedMatching MONDO:0011123 type 1 diabetes mellitus 15 skos:exactMatch mesh:C566645 semapv:UnspecifiedMatching MONDO:0011124 spondyloepimetaphyseal dysplasia-abnormal dentition syndrome skos:exactMatch MEDGEN:356550 semapv:UnspecifiedMatching MONDO:0011124 spondyloepimetaphyseal dysplasia-abnormal dentition syndrome skos:exactMatch OMIM:601668 spondyloepimetaphyseal dysplasia with abnormal dentition semapv:UnspecifiedMatching MONDO:0011124 spondyloepimetaphyseal dysplasia-abnormal dentition syndrome skos:exactMatch Orphanet:168451 Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome semapv:UnspecifiedMatching MONDO:0011124 spondyloepimetaphyseal dysplasia-abnormal dentition syndrome skos:exactMatch UMLS:C1866507 semapv:UnspecifiedMatching MONDO:0011124 spondyloepimetaphyseal dysplasia-abnormal dentition syndrome skos:exactMatch mesh:C566644 semapv:UnspecifiedMatching MONDO:0011125 trichothiodystrophy 1, photosensitive skos:exactMatch DOID:0111873 photosensitive trichothiodystrophy 1 semapv:UnspecifiedMatching MONDO:0011125 trichothiodystrophy 1, photosensitive skos:exactMatch MEDGEN:355730 semapv:UnspecifiedMatching MONDO:0011125 trichothiodystrophy 1, photosensitive skos:exactMatch NCIT:C156433 Trichothiodystrophy 1, Photosensitive semapv:UnspecifiedMatching MONDO:0011125 trichothiodystrophy 1, photosensitive skos:exactMatch OMIM:601675 trichothiodystrophy 1, photosensitive semapv:UnspecifiedMatching MONDO:0011125 trichothiodystrophy 1, photosensitive skos:exactMatch UMLS:C1866504 semapv:UnspecifiedMatching MONDO:0011126 acute insulin response skos:exactMatch MEDGEN:355729 semapv:UnspecifiedMatching MONDO:0011126 acute insulin response skos:exactMatch OMIM:601676 acute insulin response semapv:UnspecifiedMatching MONDO:0011126 acute insulin response skos:exactMatch UMLS:C1866503 semapv:UnspecifiedMatching MONDO:0011128 Sheldon-hall syndrome skos:exactMatch DOID:0111599 distal arthrogryposis type 2B semapv:UnspecifiedMatching MONDO:0011128 Sheldon-hall syndrome skos:exactMatch MEDGEN:320374 semapv:UnspecifiedMatching MONDO:0011128 Sheldon-hall syndrome skos:exactMatch Orphanet:1147 Sheldon-Hall syndrome semapv:UnspecifiedMatching MONDO:0011128 Sheldon-hall syndrome skos:exactMatch UMLS:C1834523 semapv:UnspecifiedMatching MONDO:0011128 Sheldon-hall syndrome skos:exactMatch icd11.foundation:1206883656 Sheldon-Hall syndrome semapv:UnspecifiedMatching MONDO:0011129 glaucoma type 1C skos:exactMatch MEDGEN:356544 semapv:UnspecifiedMatching MONDO:0011129 glaucoma type 1C skos:exactMatch OMIM:601682 glaucoma 1, primary open angle, c semapv:UnspecifiedMatching MONDO:0011129 glaucoma type 1C skos:exactMatch UMLS:C1866483 semapv:UnspecifiedMatching MONDO:0011130 sebaceous gland hyperplasia, familial presenile skos:exactMatch MEDGEN:356529 semapv:UnspecifiedMatching MONDO:0011130 sebaceous gland hyperplasia, familial presenile skos:exactMatch OMIM:601700 sebaceous gland hyperplasia, familial presenile semapv:UnspecifiedMatching MONDO:0011130 sebaceous gland hyperplasia, familial presenile skos:exactMatch UMLS:C1866428 semapv:UnspecifiedMatching MONDO:0011130 sebaceous gland hyperplasia, familial presenile skos:exactMatch mesh:C537530 semapv:UnspecifiedMatching MONDO:0011131 tricho-oculo-dermo-vertebral syndrome skos:exactMatch MEDGEN:355714 semapv:UnspecifiedMatching MONDO:0011131 tricho-oculo-dermo-vertebral syndrome skos:exactMatch OMIM:601701 arthrogryposis and ectodermal dysplasia semapv:UnspecifiedMatching MONDO:0011131 tricho-oculo-dermo-vertebral syndrome skos:exactMatch UMLS:C1866427 semapv:UnspecifiedMatching MONDO:0011131 tricho-oculo-dermo-vertebral syndrome skos:exactMatch icd11.foundation:1206025469 Tricho-oculo-dermo-vertebral syndrome semapv:UnspecifiedMatching MONDO:0011131 tricho-oculo-dermo-vertebral syndrome skos:exactMatch mesh:C537441 semapv:UnspecifiedMatching MONDO:0011132 T-cell immunodeficiency, congenital alopecia, and nail dystrophy skos:exactMatch DOID:0060769 T-cell immunodeficiency, congenital alopecia, and nail dystrophy semapv:UnspecifiedMatching MONDO:0011132 T-cell immunodeficiency, congenital alopecia, and nail dystrophy skos:exactMatch MEDGEN:355713 semapv:UnspecifiedMatching MONDO:0011132 T-cell immunodeficiency, congenital alopecia, and nail dystrophy skos:exactMatch OMIM:601705 t-cell immunodeficiency, congenital alopecia, and nail dystrophy semapv:UnspecifiedMatching MONDO:0011132 T-cell immunodeficiency, congenital alopecia, and nail dystrophy skos:exactMatch Orphanet:169095 Severe combined immunodeficiency due to FOXN1 deficiency semapv:UnspecifiedMatching MONDO:0011132 T-cell immunodeficiency, congenital alopecia, and nail dystrophy skos:exactMatch SCTID:720345008 semapv:UnspecifiedMatching MONDO:0011132 T-cell immunodeficiency, congenital alopecia, and nail dystrophy skos:exactMatch UMLS:C1866426 semapv:UnspecifiedMatching MONDO:0011132 T-cell immunodeficiency, congenital alopecia, and nail dystrophy skos:exactMatch mesh:C536781 semapv:UnspecifiedMatching MONDO:0011133 deaf blind hypopigmentation syndrome, Yemenite type skos:exactMatch MEDGEN:355712 semapv:UnspecifiedMatching MONDO:0011133 deaf blind hypopigmentation syndrome, Yemenite type skos:exactMatch OMIM:601706 yemenite deaf-blind hypopigmentation syndrome semapv:UnspecifiedMatching MONDO:0011133 deaf blind hypopigmentation syndrome, Yemenite type skos:exactMatch Orphanet:3214 Deaf blind hypopigmentation syndrome, Yemenite type semapv:UnspecifiedMatching MONDO:0011133 deaf blind hypopigmentation syndrome, Yemenite type skos:exactMatch SCTID:721084001 semapv:UnspecifiedMatching MONDO:0011133 deaf blind hypopigmentation syndrome, Yemenite type skos:exactMatch UMLS:C1866425 semapv:UnspecifiedMatching MONDO:0011133 deaf blind hypopigmentation syndrome, Yemenite type skos:exactMatch icd11.foundation:2090985024 Deaf blind hypopigmentation syndrome, Yemenite type semapv:UnspecifiedMatching MONDO:0011133 deaf blind hypopigmentation syndrome, Yemenite type skos:exactMatch mesh:C536771 semapv:UnspecifiedMatching MONDO:0011134 Curry-Jones syndrome skos:exactMatch MEDGEN:167083 semapv:UnspecifiedMatching MONDO:0011134 Curry-Jones syndrome skos:exactMatch OMIM:601707 curry-jones syndrome semapv:UnspecifiedMatching MONDO:0011134 Curry-Jones syndrome skos:exactMatch Orphanet:1553 Curry-Jones syndrome semapv:UnspecifiedMatching MONDO:0011134 Curry-Jones syndrome skos:exactMatch SCTID:720819006 semapv:UnspecifiedMatching MONDO:0011134 Curry-Jones syndrome skos:exactMatch UMLS:C0795915 semapv:UnspecifiedMatching MONDO:0011134 Curry-Jones syndrome skos:exactMatch mesh:C536735 semapv:UnspecifiedMatching MONDO:0011135 superior transverse scapular ligament, calcification of, familial skos:exactMatch MEDGEN:355711 semapv:UnspecifiedMatching MONDO:0011135 superior transverse scapular ligament, calcification of, familial skos:exactMatch OMIM:601708 superior transverse scapular ligament, calcification of, familial semapv:UnspecifiedMatching MONDO:0011135 superior transverse scapular ligament, calcification of, familial skos:exactMatch UMLS:C1866424 semapv:UnspecifiedMatching MONDO:0011135 superior transverse scapular ligament, calcification of, familial skos:exactMatch mesh:C566638 semapv:UnspecifiedMatching MONDO:0011136 Quebec platelet disorder skos:exactMatch DOID:0111050 Quebec platelet disorder semapv:UnspecifiedMatching MONDO:0011136 Quebec platelet disorder skos:exactMatch MEDGEN:356528 semapv:UnspecifiedMatching MONDO:0011136 Quebec platelet disorder skos:exactMatch OMIM:601709 quebec platelet disorder semapv:UnspecifiedMatching MONDO:0011136 Quebec platelet disorder skos:exactMatch Orphanet:220436 Quebec platelet disorder semapv:UnspecifiedMatching MONDO:0011136 Quebec platelet disorder skos:exactMatch UMLS:C1866423 semapv:UnspecifiedMatching MONDO:0011136 Quebec platelet disorder skos:exactMatch icd11.foundation:1618741944 Quebec platelet disorder semapv:UnspecifiedMatching MONDO:0011136 Quebec platelet disorder skos:exactMatch mesh:C536260 semapv:UnspecifiedMatching MONDO:0011137 retinitis pigmentosa 19 skos:exactMatch DOID:0110354 retinitis pigmentosa 19 semapv:UnspecifiedMatching MONDO:0011137 retinitis pigmentosa 19 skos:exactMatch MEDGEN:400996 semapv:UnspecifiedMatching MONDO:0011137 retinitis pigmentosa 19 skos:exactMatch OMIM:601718 retinitis pigmentosa 19 semapv:UnspecifiedMatching MONDO:0011137 retinitis pigmentosa 19 skos:exactMatch UMLS:C1866422 semapv:UnspecifiedMatching MONDO:0011137 retinitis pigmentosa 19 skos:exactMatch mesh:C566637 semapv:UnspecifiedMatching MONDO:0011138 systemic lupus erythematosus, susceptibility to, 1 skos:exactMatch MEDGEN:355700 semapv:UnspecifiedMatching MONDO:0011138 systemic lupus erythematosus, susceptibility to, 1 skos:exactMatch OMIM:601744 systemic lupus erythematosus, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0011138 systemic lupus erythematosus, susceptibility to, 1 skos:exactMatch UMLS:C1866373 semapv:UnspecifiedMatching MONDO:0011139 preaxial hallucal polydactyly skos:exactMatch MEDGEN:356507 semapv:UnspecifiedMatching MONDO:0011139 preaxial hallucal polydactyly skos:exactMatch OMIM:601759 preaxial hallucal polydactyly semapv:UnspecifiedMatching MONDO:0011139 preaxial hallucal polydactyly skos:exactMatch UMLS:C1866339 semapv:UnspecifiedMatching MONDO:0011139 preaxial hallucal polydactyly skos:exactMatch mesh:C566632 semapv:UnspecifiedMatching MONDO:0011141 megaloblastic anemia, folate-responsive skos:exactMatch MEDGEN:440842 semapv:UnspecifiedMatching MONDO:0011141 megaloblastic anemia, folate-responsive skos:exactMatch OMIM:601775 megaloblastic anemia, folate-responsive semapv:UnspecifiedMatching MONDO:0011141 megaloblastic anemia, folate-responsive skos:exactMatch UMLS:C2749656 semapv:UnspecifiedMatching MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type skos:exactMatch MEDGEN:356497 semapv:UnspecifiedMatching MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type skos:exactMatch Orphanet:2953 Musculocontractural Ehlers-Danlos syndrome semapv:UnspecifiedMatching MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type skos:exactMatch SCTID:720860004 semapv:UnspecifiedMatching MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type skos:exactMatch UMLS:C1866294 semapv:UnspecifiedMatching MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type skos:exactMatch mesh:C000600608 semapv:UnspecifiedMatching MONDO:0011143 cone-rod dystrophy 6 skos:exactMatch DOID:0111011 cone-rod dystrophy 6 semapv:UnspecifiedMatching MONDO:0011143 cone-rod dystrophy 6 skos:exactMatch MEDGEN:400963 semapv:UnspecifiedMatching MONDO:0011143 cone-rod dystrophy 6 skos:exactMatch OMIM:601777 cone-rod dystrophy 6 semapv:UnspecifiedMatching MONDO:0011143 cone-rod dystrophy 6 skos:exactMatch UMLS:C1866293 semapv:UnspecifiedMatching MONDO:0011143 cone-rod dystrophy 6 skos:exactMatch mesh:C538363 semapv:UnspecifiedMatching MONDO:0011144 ceroid lipofuscinosis, neuronal, 6A skos:exactMatch DOID:0110729 neuronal ceroid lipofuscinosis 6A semapv:UnspecifiedMatching MONDO:0011144 ceroid lipofuscinosis, neuronal, 6A skos:exactMatch MEDGEN:1790423 semapv:UnspecifiedMatching MONDO:0011144 ceroid lipofuscinosis, neuronal, 6A skos:exactMatch OMIM:601780 ceroid lipofuscinosis, neuronal, 6a semapv:UnspecifiedMatching MONDO:0011144 ceroid lipofuscinosis, neuronal, 6A skos:exactMatch Orphanet:228363 CLN6 disease semapv:UnspecifiedMatching MONDO:0011144 ceroid lipofuscinosis, neuronal, 6A skos:exactMatch UMLS:C5551375 semapv:UnspecifiedMatching MONDO:0011144 ceroid lipofuscinosis, neuronal, 6A skos:exactMatch mesh:C566627 semapv:UnspecifiedMatching MONDO:0011145 colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome skos:exactMatch MEDGEN:400954 semapv:UnspecifiedMatching MONDO:0011145 colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome skos:exactMatch OMIM:601794 coloboma-obesity-hypogenitalism-impaired intellectual development syndrome semapv:UnspecifiedMatching MONDO:0011145 colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome skos:exactMatch Orphanet:363741 Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0011145 colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome skos:exactMatch UMLS:C1866256 semapv:UnspecifiedMatching MONDO:0011145 colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome skos:exactMatch mesh:C566623 semapv:UnspecifiedMatching MONDO:0011146 tetrasomy 12p skos:exactMatch MEDGEN:120540 semapv:UnspecifiedMatching MONDO:0011146 tetrasomy 12p skos:exactMatch NCIT:C75458 Pallister-Killian Syndrome semapv:UnspecifiedMatching MONDO:0011146 tetrasomy 12p skos:exactMatch OMIM:601803 pallister-killian syndrome semapv:UnspecifiedMatching MONDO:0011146 tetrasomy 12p skos:exactMatch Orphanet:884 Pallister-Killian syndrome semapv:UnspecifiedMatching MONDO:0011146 tetrasomy 12p skos:exactMatch SCTID:9527009 semapv:UnspecifiedMatching MONDO:0011146 tetrasomy 12p skos:exactMatch UMLS:C0265449 semapv:UnspecifiedMatching MONDO:0011146 tetrasomy 12p skos:exactMatch mesh:C538105 semapv:UnspecifiedMatching MONDO:0011147 chromosome 18q deletion syndrome skos:exactMatch DOID:0060407 chromosome 18q deletion syndrome semapv:UnspecifiedMatching MONDO:0011147 chromosome 18q deletion syndrome skos:exactMatch MEDGEN:96605 semapv:UnspecifiedMatching MONDO:0011147 chromosome 18q deletion syndrome skos:exactMatch NCIT:C84522 Deletion 18q Syndrome semapv:UnspecifiedMatching MONDO:0011147 chromosome 18q deletion syndrome skos:exactMatch OMIM:601808 chromosome 18q deletion syndrome semapv:UnspecifiedMatching MONDO:0011147 chromosome 18q deletion syndrome skos:exactMatch Orphanet:1600 Monosomy 18q syndrome semapv:UnspecifiedMatching MONDO:0011147 chromosome 18q deletion syndrome skos:exactMatch Orphanet:262146 Partial deletion of the long arm of chromosome 18 syndrome semapv:UnspecifiedMatching MONDO:0011147 chromosome 18q deletion syndrome skos:exactMatch SCTID:270889005 semapv:UnspecifiedMatching MONDO:0011147 chromosome 18q deletion syndrome skos:exactMatch UMLS:C0432443 semapv:UnspecifiedMatching MONDO:0011147 chromosome 18q deletion syndrome skos:exactMatch icd11.foundation:1121828795 Deletions of the long arm of chromosome 18 semapv:UnspecifiedMatching MONDO:0011147 chromosome 18q deletion syndrome skos:exactMatch mesh:C536580 semapv:UnspecifiedMatching MONDO:0011148 Spondylospinal thoracic dysostosis skos:exactMatch MEDGEN:400937 semapv:UnspecifiedMatching MONDO:0011148 Spondylospinal thoracic dysostosis skos:exactMatch OMIM:601809 spondylospinal thoracic dysostosis semapv:UnspecifiedMatching MONDO:0011148 Spondylospinal thoracic dysostosis skos:exactMatch UMLS:C1866184 semapv:UnspecifiedMatching MONDO:0011148 Spondylospinal thoracic dysostosis skos:exactMatch mesh:C566622 semapv:UnspecifiedMatching MONDO:0011149 premature aging syndrome, Okamoto type skos:exactMatch MEDGEN:356468 semapv:UnspecifiedMatching MONDO:0011149 premature aging syndrome, Okamoto type skos:exactMatch OMIM:601811 premature aging syndrome, okamoto type semapv:UnspecifiedMatching MONDO:0011149 premature aging syndrome, Okamoto type skos:exactMatch UMLS:C1866183 semapv:UnspecifiedMatching MONDO:0011149 premature aging syndrome, Okamoto type skos:exactMatch mesh:C566621 semapv:UnspecifiedMatching MONDO:0011150 acroosteolysis-keloid-like lesions-premature aging syndrome skos:exactMatch MEDGEN:400936 semapv:UnspecifiedMatching MONDO:0011150 acroosteolysis-keloid-like lesions-premature aging syndrome skos:exactMatch OMIM:601812 premature aging syndrome, penttinen type semapv:UnspecifiedMatching MONDO:0011150 acroosteolysis-keloid-like lesions-premature aging syndrome skos:exactMatch Orphanet:363665 Acroosteolysis-keloid-like lesions-premature aging syndrome semapv:UnspecifiedMatching MONDO:0011150 acroosteolysis-keloid-like lesions-premature aging syndrome skos:exactMatch UMLS:C1866182 semapv:UnspecifiedMatching MONDO:0011150 acroosteolysis-keloid-like lesions-premature aging syndrome skos:exactMatch mesh:C536653 semapv:UnspecifiedMatching MONDO:0011151 exudative vitreoretinopathy 4 skos:exactMatch DOID:0111411 exudative vitreoretinopathy 4 semapv:UnspecifiedMatching MONDO:0011151 exudative vitreoretinopathy 4 skos:exactMatch MEDGEN:356171 semapv:UnspecifiedMatching MONDO:0011151 exudative vitreoretinopathy 4 skos:exactMatch OMIM:601813 exudative vitreoretinopathy 4 semapv:UnspecifiedMatching MONDO:0011151 exudative vitreoretinopathy 4 skos:exactMatch UMLS:C1866176 semapv:UnspecifiedMatching MONDO:0011151 exudative vitreoretinopathy 4 skos:exactMatch mesh:C566619 semapv:UnspecifiedMatching MONDO:0011152 PHGDH deficiency skos:exactMatch DOID:0050722 PHGDH deficiency semapv:UnspecifiedMatching MONDO:0011152 PHGDH deficiency skos:exactMatch MEDGEN:400935 semapv:UnspecifiedMatching MONDO:0011152 PHGDH deficiency skos:exactMatch OMIM:601815 phosphoglycerate dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0011152 PHGDH deficiency skos:exactMatch Orphanet:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form semapv:UnspecifiedMatching MONDO:0011152 PHGDH deficiency skos:exactMatch UMLS:C1866174 semapv:UnspecifiedMatching MONDO:0011152 PHGDH deficiency skos:exactMatch mesh:C566618 semapv:UnspecifiedMatching MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:exactMatch DOID:0070218 familial hyperinsulinemic hypoglycemia 2 semapv:UnspecifiedMatching MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:exactMatch MEDGEN:419173 semapv:UnspecifiedMatching MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:exactMatch OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 semapv:UnspecifiedMatching MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:exactMatch UMLS:C2931833 semapv:UnspecifiedMatching MONDO:0011154 acrofacial dysostosis, Palagonia type skos:exactMatch DOID:0060385 acrofacial dysostosis, Patagonia type semapv:UnspecifiedMatching MONDO:0011154 acrofacial dysostosis, Palagonia type skos:exactMatch MEDGEN:355645 semapv:UnspecifiedMatching MONDO:0011154 acrofacial dysostosis, Palagonia type skos:exactMatch OMIM:601829 acrofacial dysostosis, palagonia type semapv:UnspecifiedMatching MONDO:0011154 acrofacial dysostosis, Palagonia type skos:exactMatch Orphanet:1787 Acrofacial dysostosis, Palagonia type semapv:UnspecifiedMatching MONDO:0011154 acrofacial dysostosis, Palagonia type skos:exactMatch SCTID:720429007 semapv:UnspecifiedMatching MONDO:0011154 acrofacial dysostosis, Palagonia type skos:exactMatch UMLS:C1866168 semapv:UnspecifiedMatching MONDO:0011154 acrofacial dysostosis, Palagonia type skos:exactMatch icd11.foundation:656294814 Acrofacial dysostosis, Palagonia type semapv:UnspecifiedMatching MONDO:0011154 acrofacial dysostosis, Palagonia type skos:exactMatch mesh:C538185 semapv:UnspecifiedMatching MONDO:0011155 vacuolar Neuromyopathy skos:exactMatch MEDGEN:355637 semapv:UnspecifiedMatching MONDO:0011155 vacuolar Neuromyopathy skos:exactMatch OMIM:601846 myopathy with rimmed ubiquitin-positive autophagic vacuolation, autosomal dominant semapv:UnspecifiedMatching MONDO:0011155 vacuolar Neuromyopathy skos:exactMatch Orphanet:696063 PLIN4-related distal myopathy semapv:UnspecifiedMatching MONDO:0011155 vacuolar Neuromyopathy skos:exactMatch UMLS:C1866139 semapv:UnspecifiedMatching MONDO:0011155 vacuolar Neuromyopathy skos:exactMatch mesh:C566617 semapv:UnspecifiedMatching MONDO:0011156 progressive familial intrahepatic cholestasis type 2 skos:exactMatch DOID:0070222 progressive familial intrahepatic cholestasis 2 semapv:UnspecifiedMatching MONDO:0011156 progressive familial intrahepatic cholestasis type 2 skos:exactMatch MEDGEN:483742 semapv:UnspecifiedMatching MONDO:0011156 progressive familial intrahepatic cholestasis type 2 skos:exactMatch OMIM:601847 cholestasis, progressive familial intrahepatic, 2 semapv:UnspecifiedMatching MONDO:0011156 progressive familial intrahepatic cholestasis type 2 skos:exactMatch Orphanet:79304 Progressive familial intrahepatic cholestasis type 2 semapv:UnspecifiedMatching MONDO:0011156 progressive familial intrahepatic cholestasis type 2 skos:exactMatch UMLS:C3489789 semapv:UnspecifiedMatching MONDO:0011156 progressive familial intrahepatic cholestasis type 2 skos:exactMatch icd11.foundation:1168921980 Progressive familial intrahepatic cholestasis type 2 semapv:UnspecifiedMatching MONDO:0011157 Gomez-Lopez-Hernandez syndrome skos:exactMatch MEDGEN:163201 semapv:UnspecifiedMatching MONDO:0011157 Gomez-Lopez-Hernandez syndrome skos:exactMatch OMIM:601853 gomez-lopez-hernandez syndrome semapv:UnspecifiedMatching MONDO:0011157 Gomez-Lopez-Hernandez syndrome skos:exactMatch Orphanet:1532 Gómez-López-Hernández syndrome semapv:UnspecifiedMatching MONDO:0011157 Gomez-Lopez-Hernandez syndrome skos:exactMatch SCTID:722451006 semapv:UnspecifiedMatching MONDO:0011157 Gomez-Lopez-Hernandez syndrome skos:exactMatch UMLS:C0795959 semapv:UnspecifiedMatching MONDO:0011157 Gomez-Lopez-Hernandez syndrome skos:exactMatch mesh:C537285 semapv:UnspecifiedMatching MONDO:0011158 autoimmune lymphoproliferative syndrome type 1 skos:exactMatch MEDGEN:231300 semapv:UnspecifiedMatching MONDO:0011158 autoimmune lymphoproliferative syndrome type 1 skos:exactMatch OMIM:601859 autoimmune lymphoproliferative syndrome semapv:UnspecifiedMatching MONDO:0011158 autoimmune lymphoproliferative syndrome type 1 skos:exactMatch SCTID:702444009 semapv:UnspecifiedMatching MONDO:0011158 autoimmune lymphoproliferative syndrome type 1 skos:exactMatch UMLS:C1328840 semapv:UnspecifiedMatching MONDO:0011159 autosomal dominant nonsyndromic hearing loss 13 skos:exactMatch DOID:0110545 autosomal dominant nonsyndromic deafness 13 semapv:UnspecifiedMatching MONDO:0011159 autosomal dominant nonsyndromic hearing loss 13 skos:exactMatch MEDGEN:400917 semapv:UnspecifiedMatching MONDO:0011159 autosomal dominant nonsyndromic hearing loss 13 skos:exactMatch OMIM:601868 deafness, autosomal dominant 13 semapv:UnspecifiedMatching MONDO:0011159 autosomal dominant nonsyndromic hearing loss 13 skos:exactMatch UMLS:C1866095 semapv:UnspecifiedMatching MONDO:0011159 autosomal dominant nonsyndromic hearing loss 13 skos:exactMatch mesh:C566612 semapv:UnspecifiedMatching MONDO:0011160 autosomal recessive nonsyndromic hearing loss 15 skos:exactMatch DOID:0110470 autosomal recessive nonsyndromic deafness 15 semapv:UnspecifiedMatching MONDO:0011160 autosomal recessive nonsyndromic hearing loss 15 skos:exactMatch MEDGEN:355626 semapv:UnspecifiedMatching MONDO:0011160 autosomal recessive nonsyndromic hearing loss 15 skos:exactMatch OMIM:601869 deafness, autosomal recessive 15 semapv:UnspecifiedMatching MONDO:0011160 autosomal recessive nonsyndromic hearing loss 15 skos:exactMatch UMLS:C1866094 semapv:UnspecifiedMatching MONDO:0011160 autosomal recessive nonsyndromic hearing loss 15 skos:exactMatch mesh:C566611 semapv:UnspecifiedMatching MONDO:0011161 sperm-specific antigen 1 skos:exactMatch MEDGEN:244171 semapv:UnspecifiedMatching MONDO:0011161 sperm-specific antigen 1 skos:exactMatch OMIM:601876 sperm-specific antigen 1 semapv:UnspecifiedMatching MONDO:0011161 sperm-specific antigen 1 skos:exactMatch UMLS:C1420425 semapv:UnspecifiedMatching MONDO:0011162 cataract 14 multiple types skos:exactMatch DOID:0110253 cataract 14 multiple types semapv:UnspecifiedMatching MONDO:0011162 cataract 14 multiple types skos:exactMatch MEDGEN:356152 semapv:UnspecifiedMatching MONDO:0011162 cataract 14 multiple types skos:exactMatch OMIM:601885 cataract 14, multiple types semapv:UnspecifiedMatching MONDO:0011162 cataract 14 multiple types skos:exactMatch UMLS:C1866078 semapv:UnspecifiedMatching MONDO:0011162 cataract 14 multiple types skos:exactMatch mesh:C566608 semapv:UnspecifiedMatching MONDO:0011163 malignant hyperthermia, susceptibility to, 5 skos:exactMatch MEDGEN:356151 semapv:UnspecifiedMatching MONDO:0011163 malignant hyperthermia, susceptibility to, 5 skos:exactMatch OMIM:601887 malignant hyperthermia, susceptibility to, 5 semapv:UnspecifiedMatching MONDO:0011163 malignant hyperthermia, susceptibility to, 5 skos:exactMatch UMLS:C1866077 semapv:UnspecifiedMatching MONDO:0011163 malignant hyperthermia, susceptibility to, 5 skos:exactMatch mesh:C535698 semapv:UnspecifiedMatching MONDO:0011164 malignant hyperthermia, susceptibility to, 6 skos:exactMatch MEDGEN:356150 semapv:UnspecifiedMatching MONDO:0011164 malignant hyperthermia, susceptibility to, 6 skos:exactMatch OMIM:601888 malignant hyperthermia, susceptibility to, 6 semapv:UnspecifiedMatching MONDO:0011164 malignant hyperthermia, susceptibility to, 6 skos:exactMatch UMLS:C1866076 semapv:UnspecifiedMatching MONDO:0011164 malignant hyperthermia, susceptibility to, 6 skos:exactMatch mesh:C535699 semapv:UnspecifiedMatching MONDO:0011165 glomerulopathy with fibronectin deposits 2 skos:exactMatch MEDGEN:356149 semapv:UnspecifiedMatching MONDO:0011165 glomerulopathy with fibronectin deposits 2 skos:exactMatch OMIM:601894 glomerulopathy with fibronectin deposits 2 semapv:UnspecifiedMatching MONDO:0011165 glomerulopathy with fibronectin deposits 2 skos:exactMatch SCTID:722759007 semapv:UnspecifiedMatching MONDO:0011165 glomerulopathy with fibronectin deposits 2 skos:exactMatch UMLS:C1866075 semapv:UnspecifiedMatching MONDO:0011166 lymphedema-atrial septal defects-facial changes syndrome skos:exactMatch MEDGEN:383042 semapv:UnspecifiedMatching MONDO:0011166 lymphedema-atrial septal defects-facial changes syndrome skos:exactMatch OMIM:601927 lymphedema, cardiac septal defects, and characteristic facies semapv:UnspecifiedMatching MONDO:0011166 lymphedema-atrial septal defects-facial changes syndrome skos:exactMatch Orphanet:86915 Lymphedema-atrial septal defects-facial changes syndrome semapv:UnspecifiedMatching MONDO:0011166 lymphedema-atrial septal defects-facial changes syndrome skos:exactMatch SCTID:721978002 semapv:UnspecifiedMatching MONDO:0011166 lymphedema-atrial septal defects-facial changes syndrome skos:exactMatch UMLS:C2677167 semapv:UnspecifiedMatching MONDO:0011166 lymphedema-atrial septal defects-facial changes syndrome skos:exactMatch mesh:C535539 semapv:UnspecifiedMatching MONDO:0011166 lymphedema-atrial septal defects-facial changes syndrome skos:exactMatch mesh:C567398 semapv:UnspecifiedMatching MONDO:0011167 type 1 diabetes mellitus 6 skos:exactMatch DOID:0110745 type 1 diabetes mellitus 6 semapv:UnspecifiedMatching MONDO:0011167 type 1 diabetes mellitus 6 skos:exactMatch MEDGEN:356143 semapv:UnspecifiedMatching MONDO:0011167 type 1 diabetes mellitus 6 skos:exactMatch OMIM:601941 type 1 diabetes mellitus 6 semapv:UnspecifiedMatching MONDO:0011167 type 1 diabetes mellitus 6 skos:exactMatch UMLS:C1866041 semapv:UnspecifiedMatching MONDO:0011167 type 1 diabetes mellitus 6 skos:exactMatch mesh:C566603 semapv:UnspecifiedMatching MONDO:0011168 type 1 diabetes mellitus 10 skos:exactMatch DOID:0110749 type 1 diabetes mellitus 10 semapv:UnspecifiedMatching MONDO:0011168 type 1 diabetes mellitus 10 skos:exactMatch MEDGEN:400903 semapv:UnspecifiedMatching MONDO:0011168 type 1 diabetes mellitus 10 skos:exactMatch OMIM:601942 type 1 diabetes mellitus 10 semapv:UnspecifiedMatching MONDO:0011168 type 1 diabetes mellitus 10 skos:exactMatch UMLS:C1866040 semapv:UnspecifiedMatching MONDO:0011168 type 1 diabetes mellitus 10 skos:exactMatch mesh:C566602 semapv:UnspecifiedMatching MONDO:0011169 keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome skos:exactMatch MEDGEN:356430 semapv:UnspecifiedMatching MONDO:0011169 keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome skos:exactMatch OMIM:601952 keratosis linearis with ichthyosis congenita and sclerosing keratoderma semapv:UnspecifiedMatching MONDO:0011169 keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome skos:exactMatch Orphanet:281201 Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome semapv:UnspecifiedMatching MONDO:0011169 keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome skos:exactMatch SCTID:763775000 semapv:UnspecifiedMatching MONDO:0011169 keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome skos:exactMatch UMLS:C1866029 semapv:UnspecifiedMatching MONDO:0011169 keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome skos:exactMatch mesh:C566600 semapv:UnspecifiedMatching MONDO:0011170 autosomal recessive limb-girdle muscular dystrophy type 2G skos:exactMatch DOID:0110281 autosomal recessive limb-girdle muscular dystrophy type 2G semapv:UnspecifiedMatching MONDO:0011170 autosomal recessive limb-girdle muscular dystrophy type 2G skos:exactMatch MEDGEN:400895 semapv:UnspecifiedMatching MONDO:0011170 autosomal recessive limb-girdle muscular dystrophy type 2G skos:exactMatch OMIM:601954 muscular dystrophy, limb-girdle, autosomal recessive 7 semapv:UnspecifiedMatching MONDO:0011170 autosomal recessive limb-girdle muscular dystrophy type 2G skos:exactMatch Orphanet:34514 Telethonin-related limb-girdle muscular dystrophy R7 semapv:UnspecifiedMatching MONDO:0011170 autosomal recessive limb-girdle muscular dystrophy type 2G skos:exactMatch SCTID:720522001 semapv:UnspecifiedMatching MONDO:0011170 autosomal recessive limb-girdle muscular dystrophy type 2G skos:exactMatch UMLS:C1866008 semapv:UnspecifiedMatching MONDO:0011170 autosomal recessive limb-girdle muscular dystrophy type 2G skos:exactMatch mesh:C566599 semapv:UnspecifiedMatching MONDO:0011171 odonto-tricho-ungual-digito-palmar syndrome skos:exactMatch MEDGEN:400891 semapv:UnspecifiedMatching MONDO:0011171 odonto-tricho-ungual-digito-palmar syndrome skos:exactMatch OMIM:601957 odontotrichoungual-digital-palmar syndrome semapv:UnspecifiedMatching MONDO:0011171 odonto-tricho-ungual-digito-palmar syndrome skos:exactMatch Orphanet:69082 Odonto-tricho-ungual-digito-palmar syndrome semapv:UnspecifiedMatching MONDO:0011171 odonto-tricho-ungual-digito-palmar syndrome skos:exactMatch SCTID:722063009 semapv:UnspecifiedMatching MONDO:0011171 odonto-tricho-ungual-digito-palmar syndrome skos:exactMatch UMLS:C1865998 semapv:UnspecifiedMatching MONDO:0011171 odonto-tricho-ungual-digito-palmar syndrome skos:exactMatch icd11.foundation:386386782 Odonto-tricho-ungual-digito-palmar syndrome semapv:UnspecifiedMatching MONDO:0011171 odonto-tricho-ungual-digito-palmar syndrome skos:exactMatch mesh:C566598 semapv:UnspecifiedMatching MONDO:0011172 otofacioosseous-gonadal syndrome skos:exactMatch MEDGEN:356416 semapv:UnspecifiedMatching MONDO:0011172 otofacioosseous-gonadal syndrome skos:exactMatch OMIM:601976 otofacioosseous-gonadal syndrome semapv:UnspecifiedMatching MONDO:0011172 otofacioosseous-gonadal syndrome skos:exactMatch UMLS:C1865988 semapv:UnspecifiedMatching MONDO:0011172 otofacioosseous-gonadal syndrome skos:exactMatch mesh:C566597 semapv:UnspecifiedMatching MONDO:0011173 thrombocythemia 2 skos:exactMatch MEDGEN:477629 semapv:UnspecifiedMatching MONDO:0011173 thrombocythemia 2 skos:exactMatch OMIM:601977 thrombocythemia 2 semapv:UnspecifiedMatching MONDO:0011173 thrombocythemia 2 skos:exactMatch UMLS:C3275998 semapv:UnspecifiedMatching MONDO:0011174 hyperzincemia with functional zinc depletion skos:exactMatch DOID:0061185 autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia semapv:UnspecifiedMatching MONDO:0011174 hyperzincemia with functional zinc depletion skos:exactMatch MEDGEN:1813911 semapv:UnspecifiedMatching MONDO:0011174 hyperzincemia with functional zinc depletion skos:exactMatch OMIM:601979 autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia semapv:UnspecifiedMatching MONDO:0011174 hyperzincemia with functional zinc depletion skos:exactMatch Orphanet:251523 Hyperzincemia and hypercalprotectinemia semapv:UnspecifiedMatching MONDO:0011174 hyperzincemia with functional zinc depletion skos:exactMatch UMLS:C4760957 semapv:UnspecifiedMatching MONDO:0011174 hyperzincemia with functional zinc depletion skos:exactMatch mesh:C566595 semapv:UnspecifiedMatching MONDO:0011175 Friedreich ataxia 2 skos:exactMatch DOID:0111219 Friedreich ataxia 2 semapv:UnspecifiedMatching MONDO:0011175 Friedreich ataxia 2 skos:exactMatch MEDGEN:356134 semapv:UnspecifiedMatching MONDO:0011175 Friedreich ataxia 2 skos:exactMatch OMIM:601992 friedreich ataxia 2 semapv:UnspecifiedMatching MONDO:0011175 Friedreich ataxia 2 skos:exactMatch UMLS:C1865981 semapv:UnspecifiedMatching MONDO:0011175 Friedreich ataxia 2 skos:exactMatch mesh:C566594 semapv:UnspecifiedMatching MONDO:0011176 intestinal hypomagnesemia 1 skos:exactMatch DOID:0060883 intestinal hypomagnesemia 1 semapv:UnspecifiedMatching MONDO:0011176 intestinal hypomagnesemia 1 skos:exactMatch MEDGEN:355596 semapv:UnspecifiedMatching MONDO:0011176 intestinal hypomagnesemia 1 skos:exactMatch OMIM:602014 hypomagnesemia 1, intestinal semapv:UnspecifiedMatching MONDO:0011176 intestinal hypomagnesemia 1 skos:exactMatch Orphanet:30924 Primary hypomagnesemia with secondary hypocalcemia semapv:UnspecifiedMatching MONDO:0011176 intestinal hypomagnesemia 1 skos:exactMatch SCTID:190856003 semapv:UnspecifiedMatching MONDO:0011176 intestinal hypomagnesemia 1 skos:exactMatch UMLS:C1865974 semapv:UnspecifiedMatching MONDO:0011176 intestinal hypomagnesemia 1 skos:exactMatch mesh:C566593 semapv:UnspecifiedMatching MONDO:0011177 ectodermal dysplasia 4, hair/nail type skos:exactMatch DOID:0111658 ectodermal dysplasia 4 semapv:UnspecifiedMatching MONDO:0011177 ectodermal dysplasia 4, hair/nail type skos:exactMatch MEDGEN:870434 semapv:UnspecifiedMatching MONDO:0011177 ectodermal dysplasia 4, hair/nail type skos:exactMatch OMIM:602032 ectodermal dysplasia 4, hair/nail type semapv:UnspecifiedMatching MONDO:0011177 ectodermal dysplasia 4, hair/nail type skos:exactMatch UMLS:C4024880 semapv:UnspecifiedMatching MONDO:0011177 ectodermal dysplasia 4, hair/nail type skos:exactMatch mesh:C566592 semapv:UnspecifiedMatching MONDO:0011178 infantile convulsions and choreoathetosis skos:exactMatch MEDGEN:356123 semapv:UnspecifiedMatching MONDO:0011178 infantile convulsions and choreoathetosis skos:exactMatch NCIT:C126650 Infantile Convulsions and Paroxysmal Choreoathetosis, Familial semapv:UnspecifiedMatching MONDO:0011178 infantile convulsions and choreoathetosis skos:exactMatch OMIM:602066 convulsions, familial infantile, with paroxysmal choreoathetosis semapv:UnspecifiedMatching MONDO:0011178 infantile convulsions and choreoathetosis skos:exactMatch Orphanet:31709 Infantile convulsions and choreoathetosis semapv:UnspecifiedMatching MONDO:0011178 infantile convulsions and choreoathetosis skos:exactMatch SCTID:715534008 semapv:UnspecifiedMatching MONDO:0011178 infantile convulsions and choreoathetosis skos:exactMatch UMLS:C1865926 semapv:UnspecifiedMatching MONDO:0011178 infantile convulsions and choreoathetosis skos:exactMatch mesh:C535522 semapv:UnspecifiedMatching MONDO:0011179 leishmaniasis, tegumentary, susceptibility to skos:exactMatch MEDGEN:412566 semapv:UnspecifiedMatching MONDO:0011179 leishmaniasis, tegumentary, susceptibility to skos:exactMatch OMIM:602068 leishmaniasis, tegumentary, susceptibility to semapv:UnspecifiedMatching MONDO:0011179 leishmaniasis, tegumentary, susceptibility to skos:exactMatch UMLS:C2748501 semapv:UnspecifiedMatching MONDO:0011180 broad terminal phalanges, familial skos:exactMatch MEDGEN:400879 semapv:UnspecifiedMatching MONDO:0011180 broad terminal phalanges, familial skos:exactMatch OMIM:602071 broad terminal phalanges, familial semapv:UnspecifiedMatching MONDO:0011180 broad terminal phalanges, familial skos:exactMatch UMLS:C1865923 semapv:UnspecifiedMatching MONDO:0011180 broad terminal phalanges, familial skos:exactMatch mesh:C566588 semapv:UnspecifiedMatching MONDO:0011181 fibrosis of extraocular muscles, congenital, 2 skos:exactMatch DOID:0081016 congenital fibrosis of the extraocular muscles 2 semapv:UnspecifiedMatching MONDO:0011181 fibrosis of extraocular muscles, congenital, 2 skos:exactMatch MEDGEN:356119 semapv:UnspecifiedMatching MONDO:0011181 fibrosis of extraocular muscles, congenital, 2 skos:exactMatch OMIM:602078 fibrosis of extraocular muscles, congenital, 2 semapv:UnspecifiedMatching MONDO:0011181 fibrosis of extraocular muscles, congenital, 2 skos:exactMatch UMLS:C1865915 semapv:UnspecifiedMatching MONDO:0011181 fibrosis of extraocular muscles, congenital, 2 skos:exactMatch mesh:C566587 semapv:UnspecifiedMatching MONDO:0011182 trimethylaminuria skos:exactMatch ICD10CM:E72.52 Trimethylaminuria semapv:UnspecifiedMatching MONDO:0011182 trimethylaminuria skos:exactMatch MEDGEN:83350 semapv:UnspecifiedMatching MONDO:0011182 trimethylaminuria skos:exactMatch SCTID:237959005 semapv:UnspecifiedMatching MONDO:0011182 trimethylaminuria skos:exactMatch UMLS:C0342739 semapv:UnspecifiedMatching MONDO:0011182 trimethylaminuria skos:exactMatch icd11.foundation:685690588 Trimethylaminuria semapv:UnspecifiedMatching MONDO:0011183 Paget disease of bone 2, early-onset skos:exactMatch DOID:0081365 Paget's disease of bone 2 semapv:UnspecifiedMatching MONDO:0011183 Paget disease of bone 2, early-onset skos:exactMatch MEDGEN:899166 semapv:UnspecifiedMatching MONDO:0011183 Paget disease of bone 2, early-onset skos:exactMatch OMIM:602080 paget disease of bone 2, early-onset semapv:UnspecifiedMatching MONDO:0011183 Paget disease of bone 2, early-onset skos:exactMatch UMLS:C4085251 semapv:UnspecifiedMatching MONDO:0011184 childhood apraxia of speech skos:exactMatch DOID:0111275 speech-language disorder-1 semapv:UnspecifiedMatching MONDO:0011184 childhood apraxia of speech skos:exactMatch MEDGEN:152917 semapv:UnspecifiedMatching MONDO:0011184 childhood apraxia of speech skos:exactMatch OMIM:602081 speech-language disorder 1 semapv:UnspecifiedMatching MONDO:0011184 childhood apraxia of speech skos:exactMatch Orphanet:209908 Isolated childhood apraxia of speech semapv:UnspecifiedMatching MONDO:0011184 childhood apraxia of speech skos:exactMatch SCTID:229703009 semapv:UnspecifiedMatching MONDO:0011184 childhood apraxia of speech skos:exactMatch UMLS:C0750927 semapv:UnspecifiedMatching MONDO:0011184 childhood apraxia of speech skos:exactMatch icd11.foundation:1590154825 Childhood apraxia of speech semapv:UnspecifiedMatching MONDO:0011185 Thiel-Behnke corneal dystrophy skos:exactMatch DOID:0060455 Thiel-Behnke corneal dystrophy semapv:UnspecifiedMatching MONDO:0011185 Thiel-Behnke corneal dystrophy skos:exactMatch MEDGEN:287070 semapv:UnspecifiedMatching MONDO:0011185 Thiel-Behnke corneal dystrophy skos:exactMatch OMIM:602082 corneal dystrophy, thiel-behnke type semapv:UnspecifiedMatching MONDO:0011185 Thiel-Behnke corneal dystrophy skos:exactMatch Orphanet:98960 Thiel-Behnke corneal dystrophy semapv:UnspecifiedMatching MONDO:0011185 Thiel-Behnke corneal dystrophy skos:exactMatch SCTID:417065002 semapv:UnspecifiedMatching MONDO:0011185 Thiel-Behnke corneal dystrophy skos:exactMatch UMLS:C1562894 semapv:UnspecifiedMatching MONDO:0011185 Thiel-Behnke corneal dystrophy skos:exactMatch icd11.foundation:2082568100 Thiel-Behnke corneal dystrophy semapv:UnspecifiedMatching MONDO:0011185 Thiel-Behnke corneal dystrophy skos:exactMatch mesh:C535942 semapv:UnspecifiedMatching MONDO:0011186 Usher syndrome type 1F skos:exactMatch DOID:0110832 Usher syndrome type 1F semapv:UnspecifiedMatching MONDO:0011186 Usher syndrome type 1F skos:exactMatch MEDGEN:356393 semapv:UnspecifiedMatching MONDO:0011186 Usher syndrome type 1F skos:exactMatch OMIM:602083 usher syndrome, type 1f semapv:UnspecifiedMatching MONDO:0011186 Usher syndrome type 1F skos:exactMatch UMLS:C1865885 semapv:UnspecifiedMatching MONDO:0011187 polydactyly, postaxial, type A2 skos:exactMatch MEDGEN:356392 semapv:UnspecifiedMatching MONDO:0011187 polydactyly, postaxial, type A2 skos:exactMatch OMIM:602085 polydactyly, postaxial, type a2 semapv:UnspecifiedMatching MONDO:0011187 polydactyly, postaxial, type A2 skos:exactMatch UMLS:C1865883 semapv:UnspecifiedMatching MONDO:0011187 polydactyly, postaxial, type A2 skos:exactMatch mesh:C566585 semapv:UnspecifiedMatching MONDO:0011188 arrhythmogenic right ventricular dysplasia 3 skos:exactMatch DOID:0110072 arrhythmogenic right ventricular dysplasia 3 semapv:UnspecifiedMatching MONDO:0011188 arrhythmogenic right ventricular dysplasia 3 skos:exactMatch MEDGEN:356108 semapv:UnspecifiedMatching MONDO:0011188 arrhythmogenic right ventricular dysplasia 3 skos:exactMatch OMIM:602086 arrhythmogenic right ventricular dysplasia, familial, 3 semapv:UnspecifiedMatching MONDO:0011188 arrhythmogenic right ventricular dysplasia 3 skos:exactMatch UMLS:C1865882 semapv:UnspecifiedMatching MONDO:0011188 arrhythmogenic right ventricular dysplasia 3 skos:exactMatch mesh:C566584 semapv:UnspecifiedMatching MONDO:0011189 arrhythmogenic right ventricular dysplasia 4 skos:exactMatch DOID:0110073 arrhythmogenic right ventricular dysplasia 4 semapv:UnspecifiedMatching MONDO:0011189 arrhythmogenic right ventricular dysplasia 4 skos:exactMatch MEDGEN:356107 semapv:UnspecifiedMatching MONDO:0011189 arrhythmogenic right ventricular dysplasia 4 skos:exactMatch OMIM:602087 arrhythmogenic right ventricular dysplasia, familial, 4 semapv:UnspecifiedMatching MONDO:0011189 arrhythmogenic right ventricular dysplasia 4 skos:exactMatch UMLS:C1865881 semapv:UnspecifiedMatching MONDO:0011189 arrhythmogenic right ventricular dysplasia 4 skos:exactMatch mesh:C566583 semapv:UnspecifiedMatching MONDO:0011190 nephronophthisis 2 skos:exactMatch DOID:0111113 nephronophthisis 2 semapv:UnspecifiedMatching MONDO:0011190 nephronophthisis 2 skos:exactMatch MEDGEN:355574 semapv:UnspecifiedMatching MONDO:0011190 nephronophthisis 2 skos:exactMatch OMIM:602088 nephronophthisis 2 semapv:UnspecifiedMatching MONDO:0011190 nephronophthisis 2 skos:exactMatch Orphanet:93591 Infantile nephronophthisis semapv:UnspecifiedMatching MONDO:0011190 nephronophthisis 2 skos:exactMatch UMLS:C1865872 semapv:UnspecifiedMatching MONDO:0011190 nephronophthisis 2 skos:exactMatch mesh:C566582 semapv:UnspecifiedMatching MONDO:0011191 capillary infantile hemangioma skos:exactMatch MEDGEN:355573 semapv:UnspecifiedMatching MONDO:0011191 capillary infantile hemangioma skos:exactMatch NCIT:C6645 Infantile Hemangioma semapv:UnspecifiedMatching MONDO:0011191 capillary infantile hemangioma skos:exactMatch OMIM:602089 hemangioma, capillary infantile semapv:UnspecifiedMatching MONDO:0011191 capillary infantile hemangioma skos:exactMatch UMLS:C1865871 semapv:UnspecifiedMatching MONDO:0011191 capillary infantile hemangioma skos:exactMatch mesh:C535860 semapv:UnspecifiedMatching MONDO:0011192 autosomal recessive nonsyndromic hearing loss 18A skos:exactMatch DOID:0110473 autosomal recessive nonsyndromic deafness 18A semapv:UnspecifiedMatching MONDO:0011192 autosomal recessive nonsyndromic hearing loss 18A skos:exactMatch MEDGEN:356389 semapv:UnspecifiedMatching MONDO:0011192 autosomal recessive nonsyndromic hearing loss 18A skos:exactMatch OMIM:602092 deafness, autosomal recessive 18a semapv:UnspecifiedMatching MONDO:0011192 autosomal recessive nonsyndromic hearing loss 18A skos:exactMatch UMLS:C1865870 semapv:UnspecifiedMatching MONDO:0011192 autosomal recessive nonsyndromic hearing loss 18A skos:exactMatch mesh:C566580 semapv:UnspecifiedMatching MONDO:0011193 cone dystrophy 3 skos:exactMatch DOID:0080314 cone-rod dystrophy 14 semapv:UnspecifiedMatching MONDO:0011193 cone dystrophy 3 skos:exactMatch MEDGEN:356104 semapv:UnspecifiedMatching MONDO:0011193 cone dystrophy 3 skos:exactMatch OMIM:602093 cone dystrophy 3 semapv:UnspecifiedMatching MONDO:0011193 cone dystrophy 3 skos:exactMatch UMLS:C1865869 semapv:UnspecifiedMatching MONDO:0011194 Alzheimer disease 5 skos:exactMatch DOID:0110037 Alzheimer's disease 5 semapv:UnspecifiedMatching MONDO:0011194 Alzheimer disease 5 skos:exactMatch MEDGEN:356103 semapv:UnspecifiedMatching MONDO:0011194 Alzheimer disease 5 skos:exactMatch OMIM:602096 alzheimer disease 5 semapv:UnspecifiedMatching MONDO:0011194 Alzheimer disease 5 skos:exactMatch UMLS:C1865868 semapv:UnspecifiedMatching MONDO:0011194 Alzheimer disease 5 skos:exactMatch mesh:C566578 semapv:UnspecifiedMatching MONDO:0011195 Usher syndrome type 1E skos:exactMatch DOID:0110833 Usher syndrome type 1E semapv:UnspecifiedMatching MONDO:0011195 Usher syndrome type 1E skos:exactMatch MEDGEN:400865 semapv:UnspecifiedMatching MONDO:0011195 Usher syndrome type 1E skos:exactMatch OMIM:602097 usher syndrome, type 1e semapv:UnspecifiedMatching MONDO:0011195 Usher syndrome type 1E skos:exactMatch UMLS:C1865865 semapv:UnspecifiedMatching MONDO:0011196 amyotrophic lateral sclerosis type 5 skos:exactMatch DOID:0060197 amyotrophic lateral sclerosis type 5 semapv:UnspecifiedMatching MONDO:0011196 amyotrophic lateral sclerosis type 5 skos:exactMatch MEDGEN:356388 semapv:UnspecifiedMatching MONDO:0011196 amyotrophic lateral sclerosis type 5 skos:exactMatch OMIM:602099 amyotrophic lateral sclerosis 5, juvenile semapv:UnspecifiedMatching MONDO:0011196 amyotrophic lateral sclerosis type 5 skos:exactMatch UMLS:C1865864 semapv:UnspecifiedMatching MONDO:0011196 amyotrophic lateral sclerosis type 5 skos:exactMatch mesh:C566576 semapv:UnspecifiedMatching MONDO:0011197 hereditary thermosensitive neuropathy skos:exactMatch MEDGEN:355568 semapv:UnspecifiedMatching MONDO:0011197 hereditary thermosensitive neuropathy skos:exactMatch OMIM:602107 neuropathy, hereditary thermosensitive semapv:UnspecifiedMatching MONDO:0011197 hereditary thermosensitive neuropathy skos:exactMatch Orphanet:84093 Hereditary thermosensitive neuropathy semapv:UnspecifiedMatching MONDO:0011197 hereditary thermosensitive neuropathy skos:exactMatch SCTID:715645004 semapv:UnspecifiedMatching MONDO:0011197 hereditary thermosensitive neuropathy skos:exactMatch UMLS:C1865856 semapv:UnspecifiedMatching MONDO:0011197 hereditary thermosensitive neuropathy skos:exactMatch icd11.foundation:1124144144 Hereditary thermosensitive neuropathy semapv:UnspecifiedMatching MONDO:0011197 hereditary thermosensitive neuropathy skos:exactMatch mesh:C566575 semapv:UnspecifiedMatching MONDO:0011198 spondyloepimetaphyseal dysplasia, Missouri type skos:exactMatch DOID:0080030 spondyloepimetaphyseal dysplasia, Missouri type semapv:UnspecifiedMatching MONDO:0011198 spondyloepimetaphyseal dysplasia, Missouri type skos:exactMatch MEDGEN:355563 semapv:UnspecifiedMatching MONDO:0011198 spondyloepimetaphyseal dysplasia, Missouri type skos:exactMatch OMIM:602111 spondyloepimetaphyseal dysplasia, missouri type semapv:UnspecifiedMatching MONDO:0011198 spondyloepimetaphyseal dysplasia, Missouri type skos:exactMatch Orphanet:93356 Spondyloepimetaphyseal dysplasia, Missouri type semapv:UnspecifiedMatching MONDO:0011198 spondyloepimetaphyseal dysplasia, Missouri type skos:exactMatch SCTID:719171005 semapv:UnspecifiedMatching MONDO:0011198 spondyloepimetaphyseal dysplasia, Missouri type skos:exactMatch UMLS:C1865832 semapv:UnspecifiedMatching MONDO:0011198 spondyloepimetaphyseal dysplasia, Missouri type skos:exactMatch icd11.foundation:1593289281 Spondyloepimetaphyseal dysplasia, Missouri type semapv:UnspecifiedMatching MONDO:0011199 nephropathy, progressive tubulointerstitial, with cholestatic liver disease skos:exactMatch MEDGEN:355562 semapv:UnspecifiedMatching MONDO:0011199 nephropathy, progressive tubulointerstitial, with cholestatic liver disease skos:exactMatch OMIM:602114 nephropathy, progressive tubulointerstitial, with cholestatic liver disease semapv:UnspecifiedMatching MONDO:0011199 nephropathy, progressive tubulointerstitial, with cholestatic liver disease skos:exactMatch UMLS:C1865831 semapv:UnspecifiedMatching MONDO:0011199 nephropathy, progressive tubulointerstitial, with cholestatic liver disease skos:exactMatch mesh:C566573 semapv:UnspecifiedMatching MONDO:0011200 torsion dystonia 7 skos:exactMatch DOID:0090040 torsion dystonia 7 semapv:UnspecifiedMatching MONDO:0011200 torsion dystonia 7 skos:exactMatch MEDGEN:355560 semapv:UnspecifiedMatching MONDO:0011200 torsion dystonia 7 skos:exactMatch OMIM:602124 dystonia 7, torsion semapv:UnspecifiedMatching MONDO:0011200 torsion dystonia 7 skos:exactMatch UMLS:C1865818 semapv:UnspecifiedMatching MONDO:0011200 torsion dystonia 7 skos:exactMatch mesh:C566572 semapv:UnspecifiedMatching MONDO:0011201 tremor, hereditary essential, 2 skos:exactMatch DOID:0111429 essential tremor 2 semapv:UnspecifiedMatching MONDO:0011201 tremor, hereditary essential, 2 skos:exactMatch MEDGEN:356087 semapv:UnspecifiedMatching MONDO:0011201 tremor, hereditary essential, 2 skos:exactMatch OMIM:602134 tremor, hereditary essential, 2 semapv:UnspecifiedMatching MONDO:0011201 tremor, hereditary essential, 2 skos:exactMatch UMLS:C1865810 semapv:UnspecifiedMatching MONDO:0011201 tremor, hereditary essential, 2 skos:exactMatch mesh:C536546 semapv:UnspecifiedMatching MONDO:0011202 RHYNS syndrome skos:exactMatch MEDGEN:356371 semapv:UnspecifiedMatching MONDO:0011202 RHYNS syndrome skos:exactMatch OMIM:602152 RHYNS syndrome semapv:UnspecifiedMatching MONDO:0011202 RHYNS syndrome skos:exactMatch Orphanet:140976 RHYNS syndrome semapv:UnspecifiedMatching MONDO:0011202 RHYNS syndrome skos:exactMatch SCTID:723999009 semapv:UnspecifiedMatching MONDO:0011202 RHYNS syndrome skos:exactMatch UMLS:C1865794 semapv:UnspecifiedMatching MONDO:0011202 RHYNS syndrome skos:exactMatch mesh:C537612 semapv:UnspecifiedMatching MONDO:0011203 Pierre Robin sequence with pectus excavatum and rib and scapular anomalies skos:exactMatch MEDGEN:355549 semapv:UnspecifiedMatching MONDO:0011203 Pierre Robin sequence with pectus excavatum and rib and scapular anomalies skos:exactMatch OMIM:602196 pierre robin sequence with pectus excavatum and rib and scapular anomalies semapv:UnspecifiedMatching MONDO:0011203 Pierre Robin sequence with pectus excavatum and rib and scapular anomalies skos:exactMatch UMLS:C1865783 semapv:UnspecifiedMatching MONDO:0011203 Pierre Robin sequence with pectus excavatum and rib and scapular anomalies skos:exactMatch mesh:C535775 semapv:UnspecifiedMatching MONDO:0011204 obsolete cerebellar degeneration-related autoantigen 3 skos:exactMatch OMIM:602197 cerebellar degeneration-related autoantigen 3 semapv:UnspecifiedMatching MONDO:0011205 medium chain 3-ketoacyl-Coa thiolase deficiency skos:exactMatch MEDGEN:356367 semapv:UnspecifiedMatching MONDO:0011205 medium chain 3-ketoacyl-Coa thiolase deficiency skos:exactMatch OMIM:602199 medium chain 3-ketoacyl-coa thiolase deficiency semapv:UnspecifiedMatching MONDO:0011205 medium chain 3-ketoacyl-Coa thiolase deficiency skos:exactMatch UMLS:C1865781 semapv:UnspecifiedMatching MONDO:0011205 medium chain 3-ketoacyl-Coa thiolase deficiency skos:exactMatch mesh:C566566 semapv:UnspecifiedMatching MONDO:0011206 ventriculomegaly with defects of the radius and kidney skos:exactMatch MEDGEN:400843 semapv:UnspecifiedMatching MONDO:0011206 ventriculomegaly with defects of the radius and kidney skos:exactMatch OMIM:602200 ventriculomegaly with defects of the radius and kidney semapv:UnspecifiedMatching MONDO:0011206 ventriculomegaly with defects of the radius and kidney skos:exactMatch UMLS:C1865780 semapv:UnspecifiedMatching MONDO:0011206 ventriculomegaly with defects of the radius and kidney skos:exactMatch mesh:C566565 semapv:UnspecifiedMatching MONDO:0011207 xanthomatosis, susceptibility to skos:exactMatch MEDGEN:356066 semapv:UnspecifiedMatching MONDO:0011207 xanthomatosis, susceptibility to skos:exactMatch OMIM:602247 xanthomatosis, susceptibility to semapv:UnspecifiedMatching MONDO:0011207 xanthomatosis, susceptibility to skos:exactMatch UMLS:C1865704 semapv:UnspecifiedMatching MONDO:0011208 malignant atrophic papulosis skos:exactMatch MEDGEN:113138 semapv:UnspecifiedMatching MONDO:0011208 malignant atrophic papulosis skos:exactMatch NCIT:C84835 Malignant Atrophic Papulosis semapv:UnspecifiedMatching MONDO:0011208 malignant atrophic papulosis skos:exactMatch OMIM:602248 malignant atrophic papulosis semapv:UnspecifiedMatching MONDO:0011208 malignant atrophic papulosis skos:exactMatch Orphanet:679 Malignant atrophic papulosis semapv:UnspecifiedMatching MONDO:0011208 malignant atrophic papulosis skos:exactMatch SCTID:400171002 semapv:UnspecifiedMatching MONDO:0011208 malignant atrophic papulosis skos:exactMatch UMLS:C0221011 semapv:UnspecifiedMatching MONDO:0011208 malignant atrophic papulosis skos:exactMatch icd11.foundation:792094526 Malignant atrophic papulosis semapv:UnspecifiedMatching MONDO:0011208 malignant atrophic papulosis skos:exactMatch mesh:D054853 semapv:UnspecifiedMatching MONDO:0011209 progeroid facial appearance with hand anomalies skos:exactMatch MEDGEN:356343 semapv:UnspecifiedMatching MONDO:0011209 progeroid facial appearance with hand anomalies skos:exactMatch OMIM:602249 progeroid facial appearance with hand anomalies semapv:UnspecifiedMatching MONDO:0011209 progeroid facial appearance with hand anomalies skos:exactMatch UMLS:C1865699 semapv:UnspecifiedMatching MONDO:0011209 progeroid facial appearance with hand anomalies skos:exactMatch mesh:C566563 semapv:UnspecifiedMatching MONDO:0011210 mitochondrial intermembrane space protein Tim12, yeast, homolog of skos:exactMatch MEDGEN:400824 semapv:UnspecifiedMatching MONDO:0011210 mitochondrial intermembrane space protein Tim12, yeast, homolog of skos:exactMatch OMIM:602252 mitochondrial intermembrane space protein tim12, yeast, homolog of semapv:UnspecifiedMatching MONDO:0011210 mitochondrial intermembrane space protein Tim12, yeast, homolog of skos:exactMatch UMLS:C1865698 semapv:UnspecifiedMatching MONDO:0011211 axial spondylometaphyseal dysplasia skos:exactMatch DOID:0112299 axial spondylometaphyseal dysplasia semapv:UnspecifiedMatching MONDO:0011211 axial spondylometaphyseal dysplasia skos:exactMatch MEDGEN:356065 semapv:UnspecifiedMatching MONDO:0011211 axial spondylometaphyseal dysplasia skos:exactMatch OMIM:602271 spondylometaphyseal dysplasia, axial semapv:UnspecifiedMatching MONDO:0011211 axial spondylometaphyseal dysplasia skos:exactMatch Orphanet:168549 Axial spondylometaphyseal dysplasia semapv:UnspecifiedMatching MONDO:0011211 axial spondylometaphyseal dysplasia skos:exactMatch UMLS:C1865695 semapv:UnspecifiedMatching MONDO:0011211 axial spondylometaphyseal dysplasia skos:exactMatch icd11.foundation:834893572 Axial spondylometaphyseal dysplasia semapv:UnspecifiedMatching MONDO:0011211 axial spondylometaphyseal dysplasia skos:exactMatch mesh:C535795 semapv:UnspecifiedMatching MONDO:0011212 sensorineural hearing loss, retinal pigment epithelium lesions, discolored teeth skos:exactMatch MEDGEN:356334 semapv:UnspecifiedMatching MONDO:0011212 sensorineural hearing loss, retinal pigment epithelium lesions, discolored teeth skos:exactMatch OMIM:602340 sensorineural hearing loss, retinal pigment epithelium lesions, discolored teeth semapv:UnspecifiedMatching MONDO:0011212 sensorineural hearing loss, retinal pigment epithelium lesions, discolored teeth skos:exactMatch UMLS:C1865645 semapv:UnspecifiedMatching MONDO:0011212 sensorineural hearing loss, retinal pigment epithelium lesions, discolored teeth skos:exactMatch mesh:C566560 semapv:UnspecifiedMatching MONDO:0011213 Pierpont syndrome skos:exactMatch DOID:0081362 Pierpont syndrome semapv:UnspecifiedMatching MONDO:0011213 Pierpont syndrome skos:exactMatch MEDGEN:356049 semapv:UnspecifiedMatching MONDO:0011213 Pierpont syndrome skos:exactMatch OMIM:602342 pierpont syndrome semapv:UnspecifiedMatching MONDO:0011213 Pierpont syndrome skos:exactMatch Orphanet:487825 Pierpont syndrome semapv:UnspecifiedMatching MONDO:0011213 Pierpont syndrome skos:exactMatch UMLS:C1865644 semapv:UnspecifiedMatching MONDO:0011213 Pierpont syndrome skos:exactMatch mesh:C566559 semapv:UnspecifiedMatching MONDO:0011214 progressive familial intrahepatic cholestasis type 3 skos:exactMatch DOID:0070223 progressive familial intrahepatic cholestasis 3 semapv:UnspecifiedMatching MONDO:0011214 progressive familial intrahepatic cholestasis type 3 skos:exactMatch MEDGEN:356333 semapv:UnspecifiedMatching MONDO:0011214 progressive familial intrahepatic cholestasis type 3 skos:exactMatch OMIM:602347 cholestasis, progressive familial intrahepatic, 3 semapv:UnspecifiedMatching MONDO:0011214 progressive familial intrahepatic cholestasis type 3 skos:exactMatch Orphanet:79305 Progressive familial intrahepatic cholestasis type 3 semapv:UnspecifiedMatching MONDO:0011214 progressive familial intrahepatic cholestasis type 3 skos:exactMatch UMLS:C1865643 semapv:UnspecifiedMatching MONDO:0011214 progressive familial intrahepatic cholestasis type 3 skos:exactMatch icd11.foundation:1276600959 Progressive familial intrahepatic cholestasis type 3 semapv:UnspecifiedMatching MONDO:0011214 progressive familial intrahepatic cholestasis type 3 skos:exactMatch mesh:C535935 semapv:UnspecifiedMatching MONDO:0011215 osteocraniostenosis skos:exactMatch MEDGEN:356331 semapv:UnspecifiedMatching MONDO:0011215 osteocraniostenosis skos:exactMatch OMIM:602361 gracile bone dysplasia semapv:UnspecifiedMatching MONDO:0011215 osteocraniostenosis skos:exactMatch Orphanet:2763 Osteocraniostenosis semapv:UnspecifiedMatching MONDO:0011215 osteocraniostenosis skos:exactMatch SCTID:722109008 semapv:UnspecifiedMatching MONDO:0011215 osteocraniostenosis skos:exactMatch UMLS:C1865639 semapv:UnspecifiedMatching MONDO:0011215 osteocraniostenosis skos:exactMatch icd11.foundation:539409723 Osteocraniostenosis semapv:UnspecifiedMatching MONDO:0011215 osteocraniostenosis skos:exactMatch mesh:C537291 semapv:UnspecifiedMatching MONDO:0011216 hemochromatosis type 2A skos:exactMatch DOID:0111027 hemochromatosis type 2A semapv:UnspecifiedMatching MONDO:0011216 hemochromatosis type 2A skos:exactMatch MEDGEN:356321 semapv:UnspecifiedMatching MONDO:0011216 hemochromatosis type 2A skos:exactMatch OMIM:602390 hemochromatosis, type 2a semapv:UnspecifiedMatching MONDO:0011216 hemochromatosis type 2A skos:exactMatch UMLS:C1865614 semapv:UnspecifiedMatching MONDO:0011217 desmosterolosis skos:exactMatch DOID:0070654 desmosterolosis semapv:UnspecifiedMatching MONDO:0011217 desmosterolosis skos:exactMatch MEDGEN:400801 semapv:UnspecifiedMatching MONDO:0011217 desmosterolosis skos:exactMatch OMIM:602398 desmosterolosis semapv:UnspecifiedMatching MONDO:0011217 desmosterolosis skos:exactMatch Orphanet:35107 Desmosterolosis semapv:UnspecifiedMatching MONDO:0011217 desmosterolosis skos:exactMatch SCTID:709490002 semapv:UnspecifiedMatching MONDO:0011217 desmosterolosis skos:exactMatch UMLS:C1865596 semapv:UnspecifiedMatching MONDO:0011217 desmosterolosis skos:exactMatch icd11.foundation:2108931494 Desmosterolosis semapv:UnspecifiedMatching MONDO:0011217 desmosterolosis skos:exactMatch mesh:C566555 semapv:UnspecifiedMatching MONDO:0011218 autosomal recessive congenital ichthyosis 11 skos:exactMatch DOID:0060720 autosomal recessive congenital ichthyosis 11 semapv:UnspecifiedMatching MONDO:0011218 autosomal recessive congenital ichthyosis 11 skos:exactMatch MEDGEN:332073 semapv:UnspecifiedMatching MONDO:0011218 autosomal recessive congenital ichthyosis 11 skos:exactMatch OMIM:602400 ichthyosis, congenital, autosomal recessive 11 semapv:UnspecifiedMatching MONDO:0011218 autosomal recessive congenital ichthyosis 11 skos:exactMatch Orphanet:91132 Ichthyosis-hypotrichosis syndrome semapv:UnspecifiedMatching MONDO:0011218 autosomal recessive congenital ichthyosis 11 skos:exactMatch UMLS:C1835851 semapv:UnspecifiedMatching MONDO:0011218 autosomal recessive congenital ichthyosis 11 skos:exactMatch mesh:C536273 semapv:UnspecifiedMatching MONDO:0011219 Fried's tooth and nail syndrome skos:exactMatch DOID:0111661 ectodermal dysplasia 8 semapv:UnspecifiedMatching MONDO:0011219 Fried's tooth and nail syndrome skos:exactMatch MEDGEN:764338 semapv:UnspecifiedMatching MONDO:0011219 Fried's tooth and nail syndrome skos:exactMatch OMIM:602401 ectodermal dysplasia 8, hair/tooth/nail type semapv:UnspecifiedMatching MONDO:0011219 Fried's tooth and nail syndrome skos:exactMatch Orphanet:99672 Fried's tooth and nail syndrome semapv:UnspecifiedMatching MONDO:0011219 Fried's tooth and nail syndrome skos:exactMatch SCTID:239020008 semapv:UnspecifiedMatching MONDO:0011219 Fried's tooth and nail syndrome skos:exactMatch UMLS:C3551424 semapv:UnspecifiedMatching MONDO:0011220 Parkinson disease 3, autosomal dominant skos:exactMatch DOID:0111250 Parkinson's disease 3 semapv:UnspecifiedMatching MONDO:0011220 Parkinson disease 3, autosomal dominant skos:exactMatch MEDGEN:355499 semapv:UnspecifiedMatching MONDO:0011220 Parkinson disease 3, autosomal dominant skos:exactMatch OMIM:602404 parkinson disease 3, autosomal dominant semapv:UnspecifiedMatching MONDO:0011220 Parkinson disease 3, autosomal dominant skos:exactMatch UMLS:C1865581 semapv:UnspecifiedMatching MONDO:0011220 Parkinson disease 3, autosomal dominant skos:exactMatch mesh:C566552 semapv:UnspecifiedMatching MONDO:0011221 Weyers ulnar ray/oligodactyly syndrome skos:exactMatch MEDGEN:356030 semapv:UnspecifiedMatching MONDO:0011221 Weyers ulnar ray/oligodactyly syndrome skos:exactMatch OMIM:602418 weyers ulnar ray/oligodactyly syndrome semapv:UnspecifiedMatching MONDO:0011221 Weyers ulnar ray/oligodactyly syndrome skos:exactMatch UMLS:C1865566 semapv:UnspecifiedMatching MONDO:0011221 Weyers ulnar ray/oligodactyly syndrome skos:exactMatch mesh:C536696 semapv:UnspecifiedMatching MONDO:0011222 obsolete glaucoma 1, open angle, D skos:exactMatch OMIM:602429 glaucoma 1, open angle, d semapv:UnspecifiedMatching MONDO:0011222 obsolete glaucoma 1, open angle, D skos:exactMatch mesh:C566551 semapv:UnspecifiedMatching MONDO:0011223 amyotrophic lateral sclerosis type 4 skos:exactMatch DOID:0060196 amyotrophic lateral sclerosis type 4 semapv:UnspecifiedMatching MONDO:0011223 amyotrophic lateral sclerosis type 4 skos:exactMatch MEDGEN:355983 semapv:UnspecifiedMatching MONDO:0011223 amyotrophic lateral sclerosis type 4 skos:exactMatch OMIM:602433 amyotrophic lateral sclerosis 4, juvenile semapv:UnspecifiedMatching MONDO:0011223 amyotrophic lateral sclerosis type 4 skos:exactMatch Orphanet:357043 Amyotrophic lateral sclerosis type 4 semapv:UnspecifiedMatching MONDO:0011223 amyotrophic lateral sclerosis type 4 skos:exactMatch UMLS:C1865409 semapv:UnspecifiedMatching MONDO:0011223 amyotrophic lateral sclerosis type 4 skos:exactMatch mesh:C566550 semapv:UnspecifiedMatching MONDO:0011224 monomelic amyotrophy skos:exactMatch EFO:1001989 semapv:UnspecifiedMatching MONDO:0011224 monomelic amyotrophy skos:exactMatch MEDGEN:356265 semapv:UnspecifiedMatching MONDO:0011224 monomelic amyotrophy skos:exactMatch OMIM:602440 amyotrophy, monomelic semapv:UnspecifiedMatching MONDO:0011224 monomelic amyotrophy skos:exactMatch Orphanet:65684 Monomelic amyotrophy semapv:UnspecifiedMatching MONDO:0011224 monomelic amyotrophy skos:exactMatch UMLS:C1865384 semapv:UnspecifiedMatching MONDO:0011224 monomelic amyotrophy skos:exactMatch icd11.foundation:2090347823 Monomelic amyotrophy semapv:UnspecifiedMatching MONDO:0011224 monomelic amyotrophy skos:exactMatch mesh:C538253 semapv:UnspecifiedMatching MONDO:0011225 severe combined immunodeficiency due to DCLRE1C deficiency skos:exactMatch DOID:0090012 severe combined immunodeficiency with sensitivity to ionizing radiation semapv:UnspecifiedMatching MONDO:0011225 severe combined immunodeficiency due to DCLRE1C deficiency skos:exactMatch MEDGEN:355454 semapv:UnspecifiedMatching MONDO:0011225 severe combined immunodeficiency due to DCLRE1C deficiency skos:exactMatch OMIM:602450 severe combined immunodeficiency with sensitivity to ionizing radiation semapv:UnspecifiedMatching MONDO:0011225 severe combined immunodeficiency due to DCLRE1C deficiency skos:exactMatch Orphanet:275 Severe combined immunodeficiency due to DCLRE1C deficiency semapv:UnspecifiedMatching MONDO:0011225 severe combined immunodeficiency due to DCLRE1C deficiency skos:exactMatch SCTID:715982006 semapv:UnspecifiedMatching MONDO:0011225 severe combined immunodeficiency due to DCLRE1C deficiency skos:exactMatch UMLS:C1865370 semapv:UnspecifiedMatching MONDO:0011226 autosomal dominant nonsyndromic hearing loss 15 skos:exactMatch DOID:0110546 autosomal dominant nonsyndromic deafness 15 semapv:UnspecifiedMatching MONDO:0011226 autosomal dominant nonsyndromic hearing loss 15 skos:exactMatch MEDGEN:355451 semapv:UnspecifiedMatching MONDO:0011226 autosomal dominant nonsyndromic hearing loss 15 skos:exactMatch OMIM:602459 deafness, autosomal dominant 15 semapv:UnspecifiedMatching MONDO:0011226 autosomal dominant nonsyndromic hearing loss 15 skos:exactMatch UMLS:C1865366 semapv:UnspecifiedMatching MONDO:0011226 autosomal dominant nonsyndromic hearing loss 15 skos:exactMatch mesh:C566545 semapv:UnspecifiedMatching MONDO:0011227 short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome skos:exactMatch MEDGEN:355971 semapv:UnspecifiedMatching MONDO:0011227 short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome skos:exactMatch OMIM:602471 short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities semapv:UnspecifiedMatching MONDO:0011227 short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome skos:exactMatch Orphanet:397623 Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome semapv:UnspecifiedMatching MONDO:0011227 short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome skos:exactMatch SCTID:417081007 semapv:UnspecifiedMatching MONDO:0011227 short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome skos:exactMatch UMLS:C1865361 semapv:UnspecifiedMatching MONDO:0011227 short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome skos:exactMatch mesh:C566544 semapv:UnspecifiedMatching MONDO:0011228 creases, infra-auricular cutaneous, with tall stature and advanced bone age skos:exactMatch MEDGEN:356259 semapv:UnspecifiedMatching MONDO:0011228 creases, infra-auricular cutaneous, with tall stature and advanced bone age skos:exactMatch OMIM:602472 creases, infra-auricular cutaneous, with tall stature and advanced bone age semapv:UnspecifiedMatching MONDO:0011228 creases, infra-auricular cutaneous, with tall stature and advanced bone age skos:exactMatch UMLS:C1865360 semapv:UnspecifiedMatching MONDO:0011228 creases, infra-auricular cutaneous, with tall stature and advanced bone age skos:exactMatch mesh:C566543 semapv:UnspecifiedMatching MONDO:0011229 ethylmalonic encephalopathy skos:exactMatch DOID:0060640 ethylmalonic encephalopathy semapv:UnspecifiedMatching MONDO:0011229 ethylmalonic encephalopathy skos:exactMatch MEDGEN:355966 semapv:UnspecifiedMatching MONDO:0011229 ethylmalonic encephalopathy skos:exactMatch OMIM:602473 encephalopathy, ethylmalonic semapv:UnspecifiedMatching MONDO:0011229 ethylmalonic encephalopathy skos:exactMatch Orphanet:51188 Ethylmalonic encephalopathy semapv:UnspecifiedMatching MONDO:0011229 ethylmalonic encephalopathy skos:exactMatch SCTID:723307008 semapv:UnspecifiedMatching MONDO:0011229 ethylmalonic encephalopathy skos:exactMatch UMLS:C1865349 semapv:UnspecifiedMatching MONDO:0011229 ethylmalonic encephalopathy skos:exactMatch icd11.foundation:1966714550 Ethylmalonic encephalopathy semapv:UnspecifiedMatching MONDO:0011229 ethylmalonic encephalopathy skos:exactMatch mesh:C535737 semapv:UnspecifiedMatching MONDO:0011230 ossification of the posterior longitudinal ligament of the spine skos:exactMatch DOID:0060887 ossification of the posterior longitudinal ligament of spine semapv:UnspecifiedMatching MONDO:0011230 ossification of the posterior longitudinal ligament of the spine skos:exactMatch EFO:0005895 semapv:UnspecifiedMatching MONDO:0011230 ossification of the posterior longitudinal ligament of the spine skos:exactMatch MEDGEN:355447 semapv:UnspecifiedMatching MONDO:0011230 ossification of the posterior longitudinal ligament of the spine skos:exactMatch NCIT:C84975 Ossification of Posterior Longitudinal Ligament semapv:UnspecifiedMatching MONDO:0011230 ossification of the posterior longitudinal ligament of the spine skos:exactMatch OMIM:602475 ossification of the posterior longitudinal ligament of spine semapv:UnspecifiedMatching MONDO:0011230 ossification of the posterior longitudinal ligament of the spine skos:exactMatch SCTID:90448008 semapv:UnspecifiedMatching MONDO:0011230 ossification of the posterior longitudinal ligament of the spine skos:exactMatch UMLS:C1865343 semapv:UnspecifiedMatching MONDO:0011230 ossification of the posterior longitudinal ligament of the spine skos:exactMatch mesh:C537143 semapv:UnspecifiedMatching MONDO:0011231 febrile seizures, familial, 2 skos:exactMatch DOID:0111310 familial febrile seizures 2 semapv:UnspecifiedMatching MONDO:0011231 febrile seizures, familial, 2 skos:exactMatch MEDGEN:355446 semapv:UnspecifiedMatching MONDO:0011231 febrile seizures, familial, 2 skos:exactMatch UMLS:C1865342 semapv:UnspecifiedMatching MONDO:0011231 febrile seizures, familial, 2 skos:exactMatch mesh:C566541 semapv:UnspecifiedMatching MONDO:0011232 migraine, familial hemiplegic, 2 skos:exactMatch DOID:0111182 familial hemiplegic migraine 2 semapv:UnspecifiedMatching MONDO:0011232 migraine, familial hemiplegic, 2 skos:exactMatch MEDGEN:355962 semapv:UnspecifiedMatching MONDO:0011232 migraine, familial hemiplegic, 2 skos:exactMatch OMIM:602481 migraine, familial hemiplegic, 2 semapv:UnspecifiedMatching MONDO:0011232 migraine, familial hemiplegic, 2 skos:exactMatch UMLS:C1865322 semapv:UnspecifiedMatching MONDO:0011232 migraine, familial hemiplegic, 2 skos:exactMatch mesh:C537246 semapv:UnspecifiedMatching MONDO:0011233 Axenfeld-Rieger syndrome type 3 skos:exactMatch DOID:0110122 Axenfeld-Rieger syndrome type 3 semapv:UnspecifiedMatching MONDO:0011233 Axenfeld-Rieger syndrome type 3 skos:exactMatch MEDGEN:394534 semapv:UnspecifiedMatching MONDO:0011233 Axenfeld-Rieger syndrome type 3 skos:exactMatch OMIM:602482 axenfeld-rieger syndrome, type 3 semapv:UnspecifiedMatching MONDO:0011233 Axenfeld-Rieger syndrome type 3 skos:exactMatch SCTID:22155002 semapv:UnspecifiedMatching MONDO:0011233 Axenfeld-Rieger syndrome type 3 skos:exactMatch UMLS:C2678503 semapv:UnspecifiedMatching MONDO:0011234 auriculocondylar syndrome 1 skos:exactMatch MEDGEN:1639644 semapv:UnspecifiedMatching MONDO:0011234 auriculocondylar syndrome 1 skos:exactMatch OMIM:602483 auriculocondylar syndrome 1 semapv:UnspecifiedMatching MONDO:0011234 auriculocondylar syndrome 1 skos:exactMatch UMLS:C4551996 semapv:UnspecifiedMatching MONDO:0011235 pelvic dysplasia-arthrogryposis of lower limbs syndrome skos:exactMatch MEDGEN:400731 semapv:UnspecifiedMatching MONDO:0011235 pelvic dysplasia-arthrogryposis of lower limbs syndrome skos:exactMatch OMIM:602484 pelvic hypoplasia with lower-limb arthrogryposis semapv:UnspecifiedMatching MONDO:0011235 pelvic dysplasia-arthrogryposis of lower limbs syndrome skos:exactMatch Orphanet:2840 Pelvic dysplasia-arthrogryposis of lower limbs syndrome semapv:UnspecifiedMatching MONDO:0011235 pelvic dysplasia-arthrogryposis of lower limbs syndrome skos:exactMatch UMLS:C1865294 semapv:UnspecifiedMatching MONDO:0011236 hyperinsulinemic hypoglycemia, familial, 3 skos:exactMatch DOID:0070216 familial hyperinsulinemic hypoglycemia 3 semapv:UnspecifiedMatching MONDO:0011236 hyperinsulinemic hypoglycemia, familial, 3 skos:exactMatch MEDGEN:355435 semapv:UnspecifiedMatching MONDO:0011236 hyperinsulinemic hypoglycemia, familial, 3 skos:exactMatch OMIM:602485 hyperinsulinemic hypoglycemia, familial, 3 semapv:UnspecifiedMatching MONDO:0011236 hyperinsulinemic hypoglycemia, familial, 3 skos:exactMatch Orphanet:79299 Congenital glucokinase-related hyperinsulinism semapv:UnspecifiedMatching MONDO:0011236 hyperinsulinemic hypoglycemia, familial, 3 skos:exactMatch SCTID:717182006 semapv:UnspecifiedMatching MONDO:0011236 hyperinsulinemic hypoglycemia, familial, 3 skos:exactMatch UMLS:C1865290 semapv:UnspecifiedMatching MONDO:0011236 hyperinsulinemic hypoglycemia, familial, 3 skos:exactMatch mesh:C538374 semapv:UnspecifiedMatching MONDO:0011237 hyperlipidemia, combined, 1 skos:exactMatch MEDGEN:355434 semapv:UnspecifiedMatching MONDO:0011237 hyperlipidemia, combined, 1 skos:exactMatch OMIM:602491 hyperlipidemia, familial combined, 1 semapv:UnspecifiedMatching MONDO:0011237 hyperlipidemia, combined, 1 skos:exactMatch UMLS:C1865289 semapv:UnspecifiedMatching MONDO:0011237 hyperlipidemia, combined, 1 skos:exactMatch mesh:C566535 semapv:UnspecifiedMatching MONDO:0011238 chondrodysplasia punctata, brachytelephalangic, autosomal skos:exactMatch MEDGEN:337102 semapv:UnspecifiedMatching MONDO:0011238 chondrodysplasia punctata, brachytelephalangic, autosomal skos:exactMatch OMIM:602497 chondrodysplasia punctata, brachytelephalangic, autosomal semapv:UnspecifiedMatching MONDO:0011238 chondrodysplasia punctata, brachytelephalangic, autosomal skos:exactMatch UMLS:C1844853 semapv:UnspecifiedMatching MONDO:0011239 colobomatous macrophthalmia-microcornea syndrome skos:exactMatch MEDGEN:400728 semapv:UnspecifiedMatching MONDO:0011239 colobomatous macrophthalmia-microcornea syndrome skos:exactMatch OMIM:602499 macrophthalmia, colobomatous, with microcornea semapv:UnspecifiedMatching MONDO:0011239 colobomatous macrophthalmia-microcornea syndrome skos:exactMatch Orphanet:468672 Colobomatous macrophthalmia-microcornea syndrome semapv:UnspecifiedMatching MONDO:0011239 colobomatous macrophthalmia-microcornea syndrome skos:exactMatch UMLS:C1865286 semapv:UnspecifiedMatching MONDO:0011239 colobomatous macrophthalmia-microcornea syndrome skos:exactMatch mesh:C566533 semapv:UnspecifiedMatching MONDO:0011240 megalencephaly-capillary malformation-polymicrogyria syndrome skos:exactMatch MEDGEN:355421 semapv:UnspecifiedMatching MONDO:0011240 megalencephaly-capillary malformation-polymicrogyria syndrome skos:exactMatch OMIM:602501 megalencephaly-capillary malformation-polymicrogyria syndrome semapv:UnspecifiedMatching MONDO:0011240 megalencephaly-capillary malformation-polymicrogyria syndrome skos:exactMatch Orphanet:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome semapv:UnspecifiedMatching MONDO:0011240 megalencephaly-capillary malformation-polymicrogyria syndrome skos:exactMatch SCTID:703370002 semapv:UnspecifiedMatching MONDO:0011240 megalencephaly-capillary malformation-polymicrogyria syndrome skos:exactMatch UMLS:C1865285 semapv:UnspecifiedMatching MONDO:0011240 megalencephaly-capillary malformation-polymicrogyria syndrome skos:exactMatch mesh:C536142 semapv:UnspecifiedMatching MONDO:0011241 pseudoacromegaly with severe insulin resistance skos:exactMatch MEDGEN:400727 semapv:UnspecifiedMatching MONDO:0011241 pseudoacromegaly with severe insulin resistance skos:exactMatch OMIM:602511 pseudoacromegaly with severe insulin resistance semapv:UnspecifiedMatching MONDO:0011241 pseudoacromegaly with severe insulin resistance skos:exactMatch UMLS:C1865284 semapv:UnspecifiedMatching MONDO:0011241 pseudoacromegaly with severe insulin resistance skos:exactMatch mesh:C566531 semapv:UnspecifiedMatching MONDO:0011242 Bartter disease type 4A skos:exactMatch DOID:0110145 Bartter disease type 4a semapv:UnspecifiedMatching MONDO:0011242 Bartter disease type 4A skos:exactMatch MEDGEN:355430 semapv:UnspecifiedMatching MONDO:0011242 Bartter disease type 4A skos:exactMatch OMIM:602522 bartter syndrome, type 4a, neonatal, with sensorineural deafness semapv:UnspecifiedMatching MONDO:0011242 Bartter disease type 4A skos:exactMatch SCTID:717791000 semapv:UnspecifiedMatching MONDO:0011242 Bartter disease type 4A skos:exactMatch UMLS:C1865270 semapv:UnspecifiedMatching MONDO:0011243 grange syndrome skos:exactMatch MEDGEN:355427 semapv:UnspecifiedMatching MONDO:0011243 grange syndrome skos:exactMatch OMIM:602531 grange syndrome semapv:UnspecifiedMatching MONDO:0011243 grange syndrome skos:exactMatch Orphanet:79094 Grange syndrome semapv:UnspecifiedMatching MONDO:0011243 grange syndrome skos:exactMatch SCTID:717824007 semapv:UnspecifiedMatching MONDO:0011243 grange syndrome skos:exactMatch UMLS:C1865267 semapv:UnspecifiedMatching MONDO:0011243 grange syndrome skos:exactMatch icd11.foundation:729368905 Grange syndrome semapv:UnspecifiedMatching MONDO:0011243 grange syndrome skos:exactMatch mesh:C566529 semapv:UnspecifiedMatching MONDO:0011244 Marshall-Smith syndrome skos:exactMatch DOID:0050858 Marshall-Smith syndrome semapv:UnspecifiedMatching MONDO:0011244 Marshall-Smith syndrome skos:exactMatch MEDGEN:75551 semapv:UnspecifiedMatching MONDO:0011244 Marshall-Smith syndrome skos:exactMatch OMIM:602535 marshall-smith syndrome semapv:UnspecifiedMatching MONDO:0011244 Marshall-Smith syndrome skos:exactMatch Orphanet:561 Marshall-Smith syndrome semapv:UnspecifiedMatching MONDO:0011244 Marshall-Smith syndrome skos:exactMatch SCTID:73284007 semapv:UnspecifiedMatching MONDO:0011244 Marshall-Smith syndrome skos:exactMatch UMLS:C0265211 semapv:UnspecifiedMatching MONDO:0011244 Marshall-Smith syndrome skos:exactMatch icd11.foundation:417951600 Marshall-Smith syndrome semapv:UnspecifiedMatching MONDO:0011244 Marshall-Smith syndrome skos:exactMatch mesh:C536026 semapv:UnspecifiedMatching MONDO:0011245 ichthyosis, hystrix-like, with hearing loss skos:exactMatch MEDGEN:355410 semapv:UnspecifiedMatching MONDO:0011245 ichthyosis, hystrix-like, with hearing loss skos:exactMatch OMIM:602540 ichthyosis, hystrix-like, with deafness semapv:UnspecifiedMatching MONDO:0011245 ichthyosis, hystrix-like, with hearing loss skos:exactMatch UMLS:C1865234 semapv:UnspecifiedMatching MONDO:0011245 ichthyosis, hystrix-like, with hearing loss skos:exactMatch mesh:C566528 semapv:UnspecifiedMatching MONDO:0011246 megaconial type congenital muscular dystrophy skos:exactMatch DOID:0110632 megaconial type congenital muscular dystrophy semapv:UnspecifiedMatching MONDO:0011246 megaconial type congenital muscular dystrophy skos:exactMatch MEDGEN:355943 semapv:UnspecifiedMatching MONDO:0011246 megaconial type congenital muscular dystrophy skos:exactMatch OMIM:602541 muscular dystrophy, congenital, megaconial type semapv:UnspecifiedMatching MONDO:0011246 megaconial type congenital muscular dystrophy skos:exactMatch Orphanet:280671 Megaconial congenital muscular dystrophy semapv:UnspecifiedMatching MONDO:0011246 megaconial type congenital muscular dystrophy skos:exactMatch UMLS:C1865233 semapv:UnspecifiedMatching MONDO:0011246 megaconial type congenital muscular dystrophy skos:exactMatch mesh:C566527 semapv:UnspecifiedMatching MONDO:0011247 jejunal atresia with renal adysplasia skos:exactMatch MEDGEN:400708 semapv:UnspecifiedMatching MONDO:0011247 jejunal atresia with renal adysplasia skos:exactMatch OMIM:602551 jejunal atresia with renal adysplasia semapv:UnspecifiedMatching MONDO:0011247 jejunal atresia with renal adysplasia skos:exactMatch UMLS:C1865209 semapv:UnspecifiedMatching MONDO:0011247 jejunal atresia with renal adysplasia skos:exactMatch mesh:C537567 semapv:UnspecifiedMatching MONDO:0011248 distal monosomy 13q skos:exactMatch MEDGEN:355405 semapv:UnspecifiedMatching MONDO:0011248 distal monosomy 13q skos:exactMatch OMIM:602553 anal atresia, hypospadias, and penoscrotal inversion semapv:UnspecifiedMatching MONDO:0011248 distal monosomy 13q skos:exactMatch Orphanet:1590 Distal deletion 13q syndrome semapv:UnspecifiedMatching MONDO:0011248 distal monosomy 13q skos:exactMatch SCTID:763527007 semapv:UnspecifiedMatching MONDO:0011248 distal monosomy 13q skos:exactMatch UMLS:C1865208 semapv:UnspecifiedMatching MONDO:0011248 distal monosomy 13q skos:exactMatch mesh:C566526 semapv:UnspecifiedMatching MONDO:0011249 torsion dystonia with onset in infancy skos:exactMatch DOID:0090058 torsion dystonia with onset in infancy semapv:UnspecifiedMatching MONDO:0011249 torsion dystonia with onset in infancy skos:exactMatch MEDGEN:400706 semapv:UnspecifiedMatching MONDO:0011249 torsion dystonia with onset in infancy skos:exactMatch OMIM:602554 torsion dystonia with onset 1n infancy semapv:UnspecifiedMatching MONDO:0011249 torsion dystonia with onset in infancy skos:exactMatch UMLS:C1865205 semapv:UnspecifiedMatching MONDO:0011249 torsion dystonia with onset in infancy skos:exactMatch mesh:C536969 semapv:UnspecifiedMatching MONDO:0011250 microcephaly, macrotia, and intellectual disability skos:exactMatch MEDGEN:355403 semapv:UnspecifiedMatching MONDO:0011250 microcephaly, macrotia, and intellectual disability skos:exactMatch OMIM:602555 microcephaly, macrotia, and impaired intellectual development semapv:UnspecifiedMatching MONDO:0011250 microcephaly, macrotia, and intellectual disability skos:exactMatch UMLS:C1865204 semapv:UnspecifiedMatching MONDO:0011250 microcephaly, macrotia, and intellectual disability skos:exactMatch mesh:C566525 semapv:UnspecifiedMatching MONDO:0011251 facial dysmorphism, cleft palate, hearing loss, and camptodactyly skos:exactMatch MEDGEN:400705 semapv:UnspecifiedMatching MONDO:0011251 facial dysmorphism, cleft palate, hearing loss, and camptodactyly skos:exactMatch OMIM:602556 facial dysmorphism, cleft palate, hearing loss, and camptodactyly semapv:UnspecifiedMatching MONDO:0011251 facial dysmorphism, cleft palate, hearing loss, and camptodactyly skos:exactMatch UMLS:C1865203 semapv:UnspecifiedMatching MONDO:0011251 facial dysmorphism, cleft palate, hearing loss, and camptodactyly skos:exactMatch mesh:C566524 semapv:UnspecifiedMatching MONDO:0011252 spondyloepimetaphyseal dysplasia, Shohat type skos:exactMatch MEDGEN:400703 semapv:UnspecifiedMatching MONDO:0011252 spondyloepimetaphyseal dysplasia, Shohat type skos:exactMatch OMIM:602557 spondyloepimetaphyseal dysplasia, shohat type semapv:UnspecifiedMatching MONDO:0011252 spondyloepimetaphyseal dysplasia, Shohat type skos:exactMatch Orphanet:93352 Spondyloepimetaphyseal dysplasia, Shohat type semapv:UnspecifiedMatching MONDO:0011252 spondyloepimetaphyseal dysplasia, Shohat type skos:exactMatch SCTID:719201004 semapv:UnspecifiedMatching MONDO:0011252 spondyloepimetaphyseal dysplasia, Shohat type skos:exactMatch UMLS:C1865185 semapv:UnspecifiedMatching MONDO:0011252 spondyloepimetaphyseal dysplasia, Shohat type skos:exactMatch icd11.foundation:1389783101 Spondyloepimetaphyseal dysplasia, Shohat type semapv:UnspecifiedMatching MONDO:0011252 spondyloepimetaphyseal dysplasia, Shohat type skos:exactMatch mesh:C566523 semapv:UnspecifiedMatching MONDO:0011253 craniomicromelic syndrome skos:exactMatch MEDGEN:355396 semapv:UnspecifiedMatching MONDO:0011253 craniomicromelic syndrome skos:exactMatch OMIM:602558 craniomicromelic syndrome semapv:UnspecifiedMatching MONDO:0011253 craniomicromelic syndrome skos:exactMatch Orphanet:1524 Craniomicromelic syndrome semapv:UnspecifiedMatching MONDO:0011253 craniomicromelic syndrome skos:exactMatch SCTID:725098001 semapv:UnspecifiedMatching MONDO:0011253 craniomicromelic syndrome skos:exactMatch UMLS:C1865184 semapv:UnspecifiedMatching MONDO:0011253 craniomicromelic syndrome skos:exactMatch icd11.foundation:1734157428 Craniomicromelic syndrome semapv:UnspecifiedMatching MONDO:0011253 craniomicromelic syndrome skos:exactMatch mesh:C566522 semapv:UnspecifiedMatching MONDO:0011254 brachydactyly, intraventricular septal defect, and deafness skos:exactMatch MEDGEN:355395 semapv:UnspecifiedMatching MONDO:0011254 brachydactyly, intraventricular septal defect, and deafness skos:exactMatch OMIM:602561 brachydactyly, intraventricular septal defect, and deafness semapv:UnspecifiedMatching MONDO:0011254 brachydactyly, intraventricular septal defect, and deafness skos:exactMatch UMLS:C1865182 semapv:UnspecifiedMatching MONDO:0011254 brachydactyly, intraventricular septal defect, and deafness skos:exactMatch mesh:C566521 semapv:UnspecifiedMatching MONDO:0011255 mandibulofacial dysostosis-macroblepharon-macrostomia syndrome skos:exactMatch MEDGEN:355927 semapv:UnspecifiedMatching MONDO:0011255 mandibulofacial dysostosis-macroblepharon-macrostomia syndrome skos:exactMatch OMIM:602562 mandibulofacial dysostosis with macroblepharon and macrostomia semapv:UnspecifiedMatching MONDO:0011255 mandibulofacial dysostosis-macroblepharon-macrostomia syndrome skos:exactMatch Orphanet:357158 Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome semapv:UnspecifiedMatching MONDO:0011255 mandibulofacial dysostosis-macroblepharon-macrostomia syndrome skos:exactMatch UMLS:C1865181 semapv:UnspecifiedMatching MONDO:0011255 mandibulofacial dysostosis-macroblepharon-macrostomia syndrome skos:exactMatch mesh:C566520 semapv:UnspecifiedMatching MONDO:0011256 emphysema, congenital, with deafness, penoscrotal web, and intellectual disability skos:exactMatch MEDGEN:355926 semapv:UnspecifiedMatching MONDO:0011256 emphysema, congenital, with deafness, penoscrotal web, and intellectual disability skos:exactMatch OMIM:602564 emphysema, congenital, with deafness, penoscrotal web, and intellectual developmental disorder semapv:UnspecifiedMatching MONDO:0011256 emphysema, congenital, with deafness, penoscrotal web, and intellectual disability skos:exactMatch UMLS:C1865180 semapv:UnspecifiedMatching MONDO:0011256 emphysema, congenital, with deafness, penoscrotal web, and intellectual disability skos:exactMatch mesh:C566519 semapv:UnspecifiedMatching MONDO:0011257 MPI-congenital disorder of glycosylation skos:exactMatch DOID:0080554 congenital disorder of glycosylation Ib semapv:UnspecifiedMatching MONDO:0011257 MPI-congenital disorder of glycosylation skos:exactMatch MEDGEN:400692 semapv:UnspecifiedMatching MONDO:0011257 MPI-congenital disorder of glycosylation skos:exactMatch OMIM:602579 congenital disorder of glycosylation, type ib semapv:UnspecifiedMatching MONDO:0011257 MPI-congenital disorder of glycosylation skos:exactMatch Orphanet:79319 MPI-CDG semapv:UnspecifiedMatching MONDO:0011257 MPI-congenital disorder of glycosylation skos:exactMatch SCTID:124668009 semapv:UnspecifiedMatching MONDO:0011257 MPI-congenital disorder of glycosylation skos:exactMatch UMLS:C1865145 semapv:UnspecifiedMatching MONDO:0011257 MPI-congenital disorder of glycosylation skos:exactMatch icd11.foundation:803079134 Phosphomannose isomerase deficiency semapv:UnspecifiedMatching MONDO:0011257 MPI-congenital disorder of glycosylation skos:exactMatch mesh:C535740 semapv:UnspecifiedMatching MONDO:0011258 branchiootic syndrome 1 skos:exactMatch DOID:0061209 branchiootic syndrome 1 semapv:UnspecifiedMatching MONDO:0011258 branchiootic syndrome 1 skos:exactMatch MEDGEN:351307 semapv:UnspecifiedMatching MONDO:0011258 branchiootic syndrome 1 skos:exactMatch OMIM:602588 branchiootic syndrome 1 semapv:UnspecifiedMatching MONDO:0011258 branchiootic syndrome 1 skos:exactMatch UMLS:C1865143 semapv:UnspecifiedMatching MONDO:0011259 retinitis pigmentosa 22 skos:exactMatch DOID:0110400 retinitis pigmentosa 22 semapv:UnspecifiedMatching MONDO:0011259 retinitis pigmentosa 22 skos:exactMatch MEDGEN:854689 semapv:UnspecifiedMatching MONDO:0011259 retinitis pigmentosa 22 skos:exactMatch OMIM:602594 retinitis pigmentosa 22 semapv:UnspecifiedMatching MONDO:0011259 retinitis pigmentosa 22 skos:exactMatch UMLS:C3887981 semapv:UnspecifiedMatching MONDO:0011260 pancreatic lymphoma, familial skos:exactMatch MEDGEN:355383 semapv:UnspecifiedMatching MONDO:0011260 pancreatic lymphoma, familial skos:exactMatch OMIM:602596 pancreatic lymphoma, familial semapv:UnspecifiedMatching MONDO:0011260 pancreatic lymphoma, familial skos:exactMatch UMLS:C1865139 semapv:UnspecifiedMatching MONDO:0011260 pancreatic lymphoma, familial skos:exactMatch mesh:C566516 semapv:UnspecifiedMatching MONDO:0011261 spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability skos:exactMatch DOID:0112294 spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and impaired intellectual development semapv:UnspecifiedMatching MONDO:0011261 spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability skos:exactMatch MEDGEN:355919 semapv:UnspecifiedMatching MONDO:0011261 spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability skos:exactMatch OMIM:602611 spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and impaired intellectual development semapv:UnspecifiedMatching MONDO:0011261 spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability skos:exactMatch Orphanet:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0011261 spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability skos:exactMatch SCTID:718766002 semapv:UnspecifiedMatching MONDO:0011261 spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability skos:exactMatch UMLS:C1865134 semapv:UnspecifiedMatching MONDO:0011261 spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability skos:exactMatch mesh:C566515 semapv:UnspecifiedMatching MONDO:0011262 camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye skos:exactMatch MEDGEN:355918 semapv:UnspecifiedMatching MONDO:0011262 camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye skos:exactMatch OMIM:602612 camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye semapv:UnspecifiedMatching MONDO:0011262 camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye skos:exactMatch Orphanet:1323 Camptodactyly-joint contractures-facial skeletal defects syndrome semapv:UnspecifiedMatching MONDO:0011262 camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye skos:exactMatch SCTID:715986009 semapv:UnspecifiedMatching MONDO:0011262 camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye skos:exactMatch UMLS:C1865133 semapv:UnspecifiedMatching MONDO:0011262 camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye skos:exactMatch mesh:C535876 semapv:UnspecifiedMatching MONDO:0011263 skeletal dysplasia and progressive central nervous system degeneration, lethal skos:exactMatch MEDGEN:400685 semapv:UnspecifiedMatching MONDO:0011263 skeletal dysplasia and progressive central nervous system degeneration, lethal skos:exactMatch OMIM:602613 skeletal dysplasia and progressive central nervous system degeneration, lethal semapv:UnspecifiedMatching MONDO:0011263 skeletal dysplasia and progressive central nervous system degeneration, lethal skos:exactMatch UMLS:C1865117 semapv:UnspecifiedMatching MONDO:0011263 skeletal dysplasia and progressive central nervous system degeneration, lethal skos:exactMatch mesh:C566514 semapv:UnspecifiedMatching MONDO:0011264 torsion dystonia 6 skos:exactMatch DOID:0090039 torsion dystonia 6 semapv:UnspecifiedMatching MONDO:0011264 torsion dystonia 6 skos:exactMatch MEDGEN:236274 semapv:UnspecifiedMatching MONDO:0011264 torsion dystonia 6 skos:exactMatch NCIT:C156361 Torsion Dystonia 6 semapv:UnspecifiedMatching MONDO:0011264 torsion dystonia 6 skos:exactMatch OMIM:602629 dystonia 6, torsion semapv:UnspecifiedMatching MONDO:0011264 torsion dystonia 6 skos:exactMatch Orphanet:98806 Primary dystonia, DYT6 type semapv:UnspecifiedMatching MONDO:0011264 torsion dystonia 6 skos:exactMatch SCTID:702448007 semapv:UnspecifiedMatching MONDO:0011264 torsion dystonia 6 skos:exactMatch UMLS:C1414216 semapv:UnspecifiedMatching MONDO:0011264 torsion dystonia 6 skos:exactMatch mesh:C538003 semapv:UnspecifiedMatching MONDO:0011265 tooth agenesis, selective, 2 skos:exactMatch MEDGEN:400679 semapv:UnspecifiedMatching MONDO:0011265 tooth agenesis, selective, 2 skos:exactMatch OMIM:602639 tooth agenesis, selective, 2 semapv:UnspecifiedMatching MONDO:0011265 tooth agenesis, selective, 2 skos:exactMatch UMLS:C1865092 semapv:UnspecifiedMatching MONDO:0011265 tooth agenesis, selective, 2 skos:exactMatch mesh:C566513 semapv:UnspecifiedMatching MONDO:0011266 myotonic dystrophy type 2 skos:exactMatch DOID:0050759 myotonic dystrophy type 2 semapv:UnspecifiedMatching MONDO:0011266 myotonic dystrophy type 2 skos:exactMatch MEDGEN:419137 semapv:UnspecifiedMatching MONDO:0011266 myotonic dystrophy type 2 skos:exactMatch NCIT:C84680 Dystrophia Myotonica 2 semapv:UnspecifiedMatching MONDO:0011266 myotonic dystrophy type 2 skos:exactMatch OMIM:602668 myotonic dystrophy 2 semapv:UnspecifiedMatching MONDO:0011266 myotonic dystrophy type 2 skos:exactMatch Orphanet:606 Proximal myotonic myopathy semapv:UnspecifiedMatching MONDO:0011266 myotonic dystrophy type 2 skos:exactMatch UMLS:C2931689 semapv:UnspecifiedMatching MONDO:0011266 myotonic dystrophy type 2 skos:exactMatch icd11.foundation:1005849639 Myotonic dystrophy type 2 semapv:UnspecifiedMatching MONDO:0011267 intellectual disability, severe, with spasticity and pigmentary tapetoretinal degeneration skos:exactMatch MEDGEN:351159 semapv:UnspecifiedMatching MONDO:0011267 intellectual disability, severe, with spasticity and pigmentary tapetoretinal degeneration skos:exactMatch OMIM:602685 intellectual developmental disorder with spasticity and pigmentary tapetoretinal degeneration semapv:UnspecifiedMatching MONDO:0011267 intellectual disability, severe, with spasticity and pigmentary tapetoretinal degeneration skos:exactMatch UMLS:C1864549 semapv:UnspecifiedMatching MONDO:0011267 intellectual disability, severe, with spasticity and pigmentary tapetoretinal degeneration skos:exactMatch mesh:C566429 semapv:UnspecifiedMatching MONDO:0011268 renal tubular acidosis, distal, 3, with or without sensorineural hearing loss skos:exactMatch DOID:0061166 autosomal recessive distal renal tubular acidosis 3 with or without sensorineural hearing loss semapv:UnspecifiedMatching MONDO:0011268 renal tubular acidosis, distal, 3, with or without sensorineural hearing loss skos:exactMatch MEDGEN:1732975 semapv:UnspecifiedMatching MONDO:0011268 renal tubular acidosis, distal, 3, with or without sensorineural hearing loss skos:exactMatch OMIM:602722 renal tubular acidosis, distal, 3, with or without sensorineural hearing loss semapv:UnspecifiedMatching MONDO:0011268 renal tubular acidosis, distal, 3, with or without sensorineural hearing loss skos:exactMatch UMLS:C5399980 semapv:UnspecifiedMatching MONDO:0011269 psoriasis 2 skos:exactMatch DOID:0080475 psoriasis 2 semapv:UnspecifiedMatching MONDO:0011269 psoriasis 2 skos:exactMatch MEDGEN:351141 semapv:UnspecifiedMatching MONDO:0011269 psoriasis 2 skos:exactMatch OMIM:602723 psoriasis 2 semapv:UnspecifiedMatching MONDO:0011269 psoriasis 2 skos:exactMatch UMLS:C1864497 semapv:UnspecifiedMatching MONDO:0011270 prostate cancer, hereditary, 8 skos:exactMatch MEDGEN:400539 semapv:UnspecifiedMatching MONDO:0011270 prostate cancer, hereditary, 8 skos:exactMatch OMIM:602759 prostate cancer, hereditary, 8 semapv:UnspecifiedMatching MONDO:0011270 prostate cancer, hereditary, 8 skos:exactMatch UMLS:C1864472 semapv:UnspecifiedMatching MONDO:0011270 prostate cancer, hereditary, 8 skos:exactMatch mesh:C566426 semapv:UnspecifiedMatching MONDO:0011271 rigid spine muscular dystrophy 1 skos:exactMatch DOID:0110633 rigid spine muscular dystrophy 1 semapv:UnspecifiedMatching MONDO:0011271 rigid spine muscular dystrophy 1 skos:exactMatch MEDGEN:98047 semapv:UnspecifiedMatching MONDO:0011271 rigid spine muscular dystrophy 1 skos:exactMatch NCIT:C126691 Rigid Spine Muscular Dystrophy 1 semapv:UnspecifiedMatching MONDO:0011271 rigid spine muscular dystrophy 1 skos:exactMatch OMIM:602771 congenital myopathy 3 with rigid spine semapv:UnspecifiedMatching MONDO:0011271 rigid spine muscular dystrophy 1 skos:exactMatch SCTID:240063002 semapv:UnspecifiedMatching MONDO:0011271 rigid spine muscular dystrophy 1 skos:exactMatch UMLS:C0410180 semapv:UnspecifiedMatching MONDO:0011272 retinitis pigmentosa 25 skos:exactMatch DOID:0110384 retinitis pigmentosa 25 semapv:UnspecifiedMatching MONDO:0011272 retinitis pigmentosa 25 skos:exactMatch MEDGEN:350427 semapv:UnspecifiedMatching MONDO:0011272 retinitis pigmentosa 25 skos:exactMatch OMIM:602772 retinitis pigmentosa 25 semapv:UnspecifiedMatching MONDO:0011272 retinitis pigmentosa 25 skos:exactMatch UMLS:C1864446 semapv:UnspecifiedMatching MONDO:0011272 retinitis pigmentosa 25 skos:exactMatch mesh:C566425 semapv:UnspecifiedMatching MONDO:0011273 H syndrome skos:exactMatch DOID:0111278 histiocytosis-lymphadenopathy plus syndrome semapv:UnspecifiedMatching MONDO:0011273 H syndrome skos:exactMatch MEDGEN:400532 semapv:UnspecifiedMatching MONDO:0011273 H syndrome skos:exactMatch OMIM:602782 histiocytosis-lymphadenopathy plus syndrome semapv:UnspecifiedMatching MONDO:0011273 H syndrome skos:exactMatch Orphanet:168569 H syndrome semapv:UnspecifiedMatching MONDO:0011273 H syndrome skos:exactMatch SCTID:711159002 semapv:UnspecifiedMatching MONDO:0011273 H syndrome skos:exactMatch UMLS:C1864445 semapv:UnspecifiedMatching MONDO:0011273 H syndrome skos:exactMatch icd11.foundation:107155297 H syndrome semapv:UnspecifiedMatching MONDO:0011273 H syndrome skos:exactMatch mesh:C535391 semapv:UnspecifiedMatching MONDO:0011273 H syndrome skos:exactMatch mesh:C538322 semapv:UnspecifiedMatching MONDO:0011274 Muenke syndrome skos:exactMatch DOID:0060703 Muenke Syndrome semapv:UnspecifiedMatching MONDO:0011274 Muenke syndrome skos:exactMatch MEDGEN:355217 semapv:UnspecifiedMatching MONDO:0011274 Muenke syndrome skos:exactMatch NCIT:C84904 Muenke Syndrome semapv:UnspecifiedMatching MONDO:0011274 Muenke syndrome skos:exactMatch OMIM:602849 muenke syndrome semapv:UnspecifiedMatching MONDO:0011274 Muenke syndrome skos:exactMatch Orphanet:53271 Muenke syndrome semapv:UnspecifiedMatching MONDO:0011274 Muenke syndrome skos:exactMatch SCTID:440350001 semapv:UnspecifiedMatching MONDO:0011274 Muenke syndrome skos:exactMatch UMLS:C1864436 semapv:UnspecifiedMatching MONDO:0011274 Muenke syndrome skos:exactMatch icd11.foundation:1860572017 Muenke syndrome semapv:UnspecifiedMatching MONDO:0011274 Muenke syndrome skos:exactMatch mesh:C537369 semapv:UnspecifiedMatching MONDO:0011275 acromesomelic dysplasia 1, Maroteaux type skos:exactMatch DOID:0080050 acromesomelic dysplasia, Maroteaux type semapv:UnspecifiedMatching MONDO:0011275 acromesomelic dysplasia 1, Maroteaux type skos:exactMatch MEDGEN:355199 semapv:UnspecifiedMatching MONDO:0011275 acromesomelic dysplasia 1, Maroteaux type skos:exactMatch OMIM:602875 acromesomelic dysplasia 1 semapv:UnspecifiedMatching MONDO:0011275 acromesomelic dysplasia 1, Maroteaux type skos:exactMatch Orphanet:40 Acromesomelic dysplasia, Maroteaux type semapv:UnspecifiedMatching MONDO:0011275 acromesomelic dysplasia 1, Maroteaux type skos:exactMatch SCTID:718559000 semapv:UnspecifiedMatching MONDO:0011275 acromesomelic dysplasia 1, Maroteaux type skos:exactMatch UMLS:C1864356 semapv:UnspecifiedMatching MONDO:0011275 acromesomelic dysplasia 1, Maroteaux type skos:exactMatch mesh:C535661 semapv:UnspecifiedMatching MONDO:0011276 orofacial cleft 2 skos:exactMatch DOID:0080396 orofacial cleft 2 semapv:UnspecifiedMatching MONDO:0011276 orofacial cleft 2 skos:exactMatch MEDGEN:400499 semapv:UnspecifiedMatching MONDO:0011276 orofacial cleft 2 skos:exactMatch OMIM:602966 orofacial cleft 2 semapv:UnspecifiedMatching MONDO:0011276 orofacial cleft 2 skos:exactMatch UMLS:C1864323 semapv:UnspecifiedMatching MONDO:0011276 orofacial cleft 2 skos:exactMatch mesh:C566419 semapv:UnspecifiedMatching MONDO:0011277 obsolete leukoregulin skos:exactMatch OMIM:602994 leukoregulin semapv:UnspecifiedMatching MONDO:0011279 autosomal recessive nonsyndromic hearing loss 17 skos:exactMatch DOID:0110472 autosomal recessive nonsyndromic deafness 17 semapv:UnspecifiedMatching MONDO:0011279 autosomal recessive nonsyndromic hearing loss 17 skos:exactMatch MEDGEN:355180 semapv:UnspecifiedMatching MONDO:0011279 autosomal recessive nonsyndromic hearing loss 17 skos:exactMatch OMIM:603010 deafness, autosomal recessive 17 semapv:UnspecifiedMatching MONDO:0011279 autosomal recessive nonsyndromic hearing loss 17 skos:exactMatch UMLS:C1864276 semapv:UnspecifiedMatching MONDO:0011279 autosomal recessive nonsyndromic hearing loss 17 skos:exactMatch mesh:C566418 semapv:UnspecifiedMatching MONDO:0011280 schizophrenia 6 skos:exactMatch DOID:0070082 schizophrenia 6 semapv:UnspecifiedMatching MONDO:0011280 schizophrenia 6 skos:exactMatch MEDGEN:350380 semapv:UnspecifiedMatching MONDO:0011280 schizophrenia 6 skos:exactMatch OMIM:603013 schizophrenia 6 semapv:UnspecifiedMatching MONDO:0011280 schizophrenia 6 skos:exactMatch UMLS:C1864275 semapv:UnspecifiedMatching MONDO:0011281 congenital myasthenic syndrome 5 skos:exactMatch DOID:0110667 congenital myasthenic syndrome 5 semapv:UnspecifiedMatching MONDO:0011281 congenital myasthenic syndrome 5 skos:exactMatch MEDGEN:400481 semapv:UnspecifiedMatching MONDO:0011281 congenital myasthenic syndrome 5 skos:exactMatch NCIT:C129304 Congenital Myasthenic Syndrome 5 semapv:UnspecifiedMatching MONDO:0011281 congenital myasthenic syndrome 5 skos:exactMatch OMIM:603034 myasthenic syndrome, congenital, 5 semapv:UnspecifiedMatching MONDO:0011281 congenital myasthenic syndrome 5 skos:exactMatch Orphanet:98915 Synaptic congenital myasthenic syndromes semapv:UnspecifiedMatching MONDO:0011281 congenital myasthenic syndrome 5 skos:exactMatch UMLS:C1864233 semapv:UnspecifiedMatching MONDO:0011281 congenital myasthenic syndrome 5 skos:exactMatch mesh:C566415 semapv:UnspecifiedMatching MONDO:0011282 tumor suppressor gene on chromosome 11 skos:exactMatch MEDGEN:355171 semapv:UnspecifiedMatching MONDO:0011282 tumor suppressor gene on chromosome 11 skos:exactMatch OMIM:603040 tumor suppressor gene on chromosome 11 semapv:UnspecifiedMatching MONDO:0011282 tumor suppressor gene on chromosome 11 skos:exactMatch UMLS:C1864232 semapv:UnspecifiedMatching MONDO:0011283 mitochondrial DNA depletion syndrome 1 skos:exactMatch DOID:0080119 mitochondrial DNA depletion syndrome 1 semapv:UnspecifiedMatching MONDO:0011283 mitochondrial DNA depletion syndrome 1 skos:exactMatch MEDGEN:1631838 semapv:UnspecifiedMatching MONDO:0011283 mitochondrial DNA depletion syndrome 1 skos:exactMatch OMIM:603041 mitochondrial DNA depletion syndrome 1 (mngie type) semapv:UnspecifiedMatching MONDO:0011283 mitochondrial DNA depletion syndrome 1 skos:exactMatch UMLS:C4551995 semapv:UnspecifiedMatching MONDO:0011284 astigmatism skos:exactMatch DOID:11782 astigmatism semapv:UnspecifiedMatching MONDO:0011284 astigmatism skos:exactMatch ICD10CM:H52.2 Astigmatism semapv:UnspecifiedMatching MONDO:0011284 astigmatism skos:exactMatch MEDGEN:2473 semapv:UnspecifiedMatching MONDO:0011284 astigmatism skos:exactMatch OMIM:603047 astigmatism semapv:UnspecifiedMatching MONDO:0011284 astigmatism skos:exactMatch SCTID:82649003 semapv:UnspecifiedMatching MONDO:0011284 astigmatism skos:exactMatch UMLS:C0004106 semapv:UnspecifiedMatching MONDO:0011284 astigmatism skos:exactMatch icd11.foundation:402558626 Astigmatism semapv:UnspecifiedMatching MONDO:0011284 astigmatism skos:exactMatch mesh:D001251 semapv:UnspecifiedMatching MONDO:0011285 age related macular degeneration 1 skos:exactMatch DOID:0110014 age related macular degeneration 1 semapv:UnspecifiedMatching MONDO:0011285 age related macular degeneration 1 skos:exactMatch MEDGEN:400475 semapv:UnspecifiedMatching MONDO:0011285 age related macular degeneration 1 skos:exactMatch OMIM:603075 macular degeneration, age-related, 1 semapv:UnspecifiedMatching MONDO:0011285 age related macular degeneration 1 skos:exactMatch UMLS:C1864205 semapv:UnspecifiedMatching MONDO:0011285 age related macular degeneration 1 skos:exactMatch mesh:C566411 semapv:UnspecifiedMatching MONDO:0011286 autosomal recessive nonsyndromic hearing loss 13 skos:exactMatch DOID:0110468 autosomal recessive nonsyndromic deafness 13 semapv:UnspecifiedMatching MONDO:0011286 autosomal recessive nonsyndromic hearing loss 13 skos:exactMatch MEDGEN:350361 semapv:UnspecifiedMatching MONDO:0011286 autosomal recessive nonsyndromic hearing loss 13 skos:exactMatch OMIM:603098 deafness, autosomal recessive 13 semapv:UnspecifiedMatching MONDO:0011286 autosomal recessive nonsyndromic hearing loss 13 skos:exactMatch UMLS:C1864199 semapv:UnspecifiedMatching MONDO:0011286 autosomal recessive nonsyndromic hearing loss 13 skos:exactMatch mesh:C566410 semapv:UnspecifiedMatching MONDO:0011287 craniosynostosis-anal anomalies-porokeratosis syndrome skos:exactMatch MEDGEN:351066 semapv:UnspecifiedMatching MONDO:0011287 craniosynostosis-anal anomalies-porokeratosis syndrome skos:exactMatch OMIM:603116 cdags syndrome semapv:UnspecifiedMatching MONDO:0011287 craniosynostosis-anal anomalies-porokeratosis syndrome skos:exactMatch Orphanet:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome semapv:UnspecifiedMatching MONDO:0011287 craniosynostosis-anal anomalies-porokeratosis syndrome skos:exactMatch SCTID:720812002 semapv:UnspecifiedMatching MONDO:0011287 craniosynostosis-anal anomalies-porokeratosis syndrome skos:exactMatch UMLS:C1864186 semapv:UnspecifiedMatching MONDO:0011287 craniosynostosis-anal anomalies-porokeratosis syndrome skos:exactMatch mesh:C536789 semapv:UnspecifiedMatching MONDO:0011288 spastic paraplegia, optic atrophy, microcephaly, and 10Y sex reversal skos:exactMatch MEDGEN:351065 semapv:UnspecifiedMatching MONDO:0011288 spastic paraplegia, optic atrophy, microcephaly, and 10Y sex reversal skos:exactMatch OMIM:603117 spastic paraplegia, optic atrophy, microcephaly, and 10y sex reversal semapv:UnspecifiedMatching MONDO:0011288 spastic paraplegia, optic atrophy, microcephaly, and 10Y sex reversal skos:exactMatch UMLS:C1864185 semapv:UnspecifiedMatching MONDO:0011288 spastic paraplegia, optic atrophy, microcephaly, and 10Y sex reversal skos:exactMatch mesh:C566409 semapv:UnspecifiedMatching MONDO:0011289 apraxia of eyelid opening skos:exactMatch MEDGEN:350360 semapv:UnspecifiedMatching MONDO:0011289 apraxia of eyelid opening skos:exactMatch OMIM:603119 apraxia of eyelid opening semapv:UnspecifiedMatching MONDO:0011289 apraxia of eyelid opening skos:exactMatch UMLS:C1864184 semapv:UnspecifiedMatching MONDO:0011290 dislocated elbows, bowed tibias, scoliosis, deafness, cataract, microcephaly, and intellectual disability skos:exactMatch MEDGEN:350359 semapv:UnspecifiedMatching MONDO:0011290 dislocated elbows, bowed tibias, scoliosis, deafness, cataract, microcephaly, and intellectual disability skos:exactMatch OMIM:603133 dislocated elbows, bowed tibias, scoliosis, deafness, cataract, microcephaly, and impaired intellectual development semapv:UnspecifiedMatching MONDO:0011290 dislocated elbows, bowed tibias, scoliosis, deafness, cataract, microcephaly, and intellectual disability skos:exactMatch UMLS:C1864183 semapv:UnspecifiedMatching MONDO:0011290 dislocated elbows, bowed tibias, scoliosis, deafness, cataract, microcephaly, and intellectual disability skos:exactMatch mesh:C566408 semapv:UnspecifiedMatching MONDO:0011291 ALG6-congenital disorder of glycosylation 1C skos:exactMatch DOID:0080555 congenital disorder of glycosylation Ic semapv:UnspecifiedMatching MONDO:0011291 ALG6-congenital disorder of glycosylation 1C skos:exactMatch MEDGEN:443952 semapv:UnspecifiedMatching MONDO:0011291 ALG6-congenital disorder of glycosylation 1C skos:exactMatch NCIT:C126869 Congenital Disorder of Glycosylation Type Ic semapv:UnspecifiedMatching MONDO:0011291 ALG6-congenital disorder of glycosylation 1C skos:exactMatch OMIM:603147 congenital disorder of glycosylation, type ic semapv:UnspecifiedMatching MONDO:0011291 ALG6-congenital disorder of glycosylation 1C skos:exactMatch Orphanet:79320 ALG6-CDG semapv:UnspecifiedMatching MONDO:0011291 ALG6-congenital disorder of glycosylation 1C skos:exactMatch SCTID:709412006 semapv:UnspecifiedMatching MONDO:0011291 ALG6-congenital disorder of glycosylation 1C skos:exactMatch UMLS:C2930997 semapv:UnspecifiedMatching MONDO:0011291 ALG6-congenital disorder of glycosylation 1C skos:exactMatch mesh:C535741 semapv:UnspecifiedMatching MONDO:0011294 schizophrenia 5 skos:exactMatch DOID:0070081 schizophrenia 5 semapv:UnspecifiedMatching MONDO:0011294 schizophrenia 5 skos:exactMatch MEDGEN:350351 semapv:UnspecifiedMatching MONDO:0011294 schizophrenia 5 skos:exactMatch OMIM:603175 schizophrenia 5 semapv:UnspecifiedMatching MONDO:0011294 schizophrenia 5 skos:exactMatch UMLS:C1864153 semapv:UnspecifiedMatching MONDO:0011295 schizophrenia 7 skos:exactMatch DOID:0070083 schizophrenia 7 semapv:UnspecifiedMatching MONDO:0011295 schizophrenia 7 skos:exactMatch MEDGEN:350350 semapv:UnspecifiedMatching MONDO:0011295 schizophrenia 7 skos:exactMatch OMIM:603176 schizophrenia 7 semapv:UnspecifiedMatching MONDO:0011295 schizophrenia 7 skos:exactMatch UMLS:C1864152 semapv:UnspecifiedMatching MONDO:0011296 Meckel syndrome, type 2 skos:exactMatch DOID:0070116 Meckel syndrome 2 semapv:UnspecifiedMatching MONDO:0011296 Meckel syndrome, type 2 skos:exactMatch MEDGEN:351059 semapv:UnspecifiedMatching MONDO:0011296 Meckel syndrome, type 2 skos:exactMatch OMIM:603194 meckel syndrome, type 2 semapv:UnspecifiedMatching MONDO:0011296 Meckel syndrome, type 2 skos:exactMatch UMLS:C1864148 semapv:UnspecifiedMatching MONDO:0011296 Meckel syndrome, type 2 skos:exactMatch mesh:C536131 semapv:UnspecifiedMatching MONDO:0011297 autosomal dominant nocturnal frontal lobe epilepsy 2 skos:exactMatch DOID:0060683 autosomal dominant nocturnal frontal lobe epilepsy 2 semapv:UnspecifiedMatching MONDO:0011297 autosomal dominant nocturnal frontal lobe epilepsy 2 skos:exactMatch MEDGEN:351053 semapv:UnspecifiedMatching MONDO:0011297 autosomal dominant nocturnal frontal lobe epilepsy 2 skos:exactMatch OMIM:603204 epilepsy, nocturnal frontal lobe, 2 semapv:UnspecifiedMatching MONDO:0011297 autosomal dominant nocturnal frontal lobe epilepsy 2 skos:exactMatch UMLS:C1864125 semapv:UnspecifiedMatching MONDO:0011297 autosomal dominant nocturnal frontal lobe epilepsy 2 skos:exactMatch mesh:C566400 semapv:UnspecifiedMatching MONDO:0011298 schizophrenia 8 skos:exactMatch DOID:0070084 schizophrenia 8 semapv:UnspecifiedMatching MONDO:0011298 schizophrenia 8 skos:exactMatch MEDGEN:400456 semapv:UnspecifiedMatching MONDO:0011298 schizophrenia 8 skos:exactMatch OMIM:603206 schizophrenia 8 semapv:UnspecifiedMatching MONDO:0011298 schizophrenia 8 skos:exactMatch UMLS:C1864124 semapv:UnspecifiedMatching MONDO:0011299 Huntington disease-like 1 skos:exactMatch DOID:0090103 Huntington's disease-like 1 semapv:UnspecifiedMatching MONDO:0011299 Huntington disease-like 1 skos:exactMatch MEDGEN:355137 semapv:UnspecifiedMatching MONDO:0011299 Huntington disease-like 1 skos:exactMatch OMIM:603218 huntington disease-like 1 semapv:UnspecifiedMatching MONDO:0011299 Huntington disease-like 1 skos:exactMatch Orphanet:157941 Huntington disease-like 1 semapv:UnspecifiedMatching MONDO:0011299 Huntington disease-like 1 skos:exactMatch UMLS:C1864112 semapv:UnspecifiedMatching MONDO:0011299 Huntington disease-like 1 skos:exactMatch mesh:C566398 semapv:UnspecifiedMatching MONDO:0011300 myopia 3, autosomal dominant skos:exactMatch MEDGEN:400454 semapv:UnspecifiedMatching MONDO:0011300 myopia 3, autosomal dominant skos:exactMatch OMIM:603221 myopia 3, autosomal dominant semapv:UnspecifiedMatching MONDO:0011300 myopia 3, autosomal dominant skos:exactMatch UMLS:C1864111 semapv:UnspecifiedMatching MONDO:0011300 myopia 3, autosomal dominant skos:exactMatch mesh:C566397 semapv:UnspecifiedMatching MONDO:0011301 pseudohypoparathyroidism type 1B skos:exactMatch DOID:0080222 pseudohypoparathyroidism type 1B semapv:UnspecifiedMatching MONDO:0011301 pseudohypoparathyroidism type 1B skos:exactMatch MEDGEN:350343 semapv:UnspecifiedMatching MONDO:0011301 pseudohypoparathyroidism type 1B skos:exactMatch OMIM:603233 pseudohypoparathyroidism, type 1b semapv:UnspecifiedMatching MONDO:0011301 pseudohypoparathyroidism type 1B skos:exactMatch Orphanet:94089 Pseudohypoparathyroidism type 1B semapv:UnspecifiedMatching MONDO:0011301 pseudohypoparathyroidism type 1B skos:exactMatch UMLS:C1864100 semapv:UnspecifiedMatching MONDO:0011301 pseudohypoparathyroidism type 1B skos:exactMatch icd11.foundation:440485628 Pseudohypoparathyroidism type 1B semapv:UnspecifiedMatching MONDO:0011301 pseudohypoparathyroidism type 1B skos:exactMatch mesh:C548075 semapv:UnspecifiedMatching MONDO:0011302 type 1 diabetes mellitus 17 skos:exactMatch DOID:0110754 type 1 diabetes mellitus 17 semapv:UnspecifiedMatching MONDO:0011302 type 1 diabetes mellitus 17 skos:exactMatch MEDGEN:351036 semapv:UnspecifiedMatching MONDO:0011302 type 1 diabetes mellitus 17 skos:exactMatch OMIM:603266 type 1 diabetes mellitus 17 semapv:UnspecifiedMatching MONDO:0011302 type 1 diabetes mellitus 17 skos:exactMatch UMLS:C1864068 semapv:UnspecifiedMatching MONDO:0011302 type 1 diabetes mellitus 17 skos:exactMatch mesh:C566395 semapv:UnspecifiedMatching MONDO:0011303 focal segmental glomerulosclerosis 1 skos:exactMatch DOID:0111128 focal segmental glomerulosclerosis 1 semapv:UnspecifiedMatching MONDO:0011303 focal segmental glomerulosclerosis 1 skos:exactMatch MEDGEN:1636833 semapv:UnspecifiedMatching MONDO:0011303 focal segmental glomerulosclerosis 1 skos:exactMatch OMIM:603278 focal segmental glomerulosclerosis 1 semapv:UnspecifiedMatching MONDO:0011303 focal segmental glomerulosclerosis 1 skos:exactMatch UMLS:C4551527 semapv:UnspecifiedMatching MONDO:0011303 focal segmental glomerulosclerosis 1 skos:exactMatch mesh:C538457 semapv:UnspecifiedMatching MONDO:0011304 cerebral cavernous malformation 2 skos:exactMatch DOID:0060670 cerebral cavernous malformation 2 semapv:UnspecifiedMatching MONDO:0011304 cerebral cavernous malformation 2 skos:exactMatch MEDGEN:400438 semapv:UnspecifiedMatching MONDO:0011304 cerebral cavernous malformation 2 skos:exactMatch OMIM:603284 cerebral cavernous malformations 2 semapv:UnspecifiedMatching MONDO:0011304 cerebral cavernous malformation 2 skos:exactMatch UMLS:C1864041 semapv:UnspecifiedMatching MONDO:0011304 cerebral cavernous malformation 2 skos:exactMatch mesh:C566394 semapv:UnspecifiedMatching MONDO:0011305 cerebral cavernous malformation 3 skos:exactMatch DOID:0060671 cerebral cavernous malformation 3 semapv:UnspecifiedMatching MONDO:0011305 cerebral cavernous malformation 3 skos:exactMatch MEDGEN:355121 semapv:UnspecifiedMatching MONDO:0011305 cerebral cavernous malformation 3 skos:exactMatch OMIM:603285 cerebral cavernous malformations 3 semapv:UnspecifiedMatching MONDO:0011305 cerebral cavernous malformation 3 skos:exactMatch UMLS:C1864040 semapv:UnspecifiedMatching MONDO:0011305 cerebral cavernous malformation 3 skos:exactMatch mesh:C566393 semapv:UnspecifiedMatching MONDO:0011306 muscular dystrophy, congenital, with cerebellar atrophy skos:exactMatch MEDGEN:351027 semapv:UnspecifiedMatching MONDO:0011306 muscular dystrophy, congenital, with cerebellar atrophy skos:exactMatch OMIM:603323 muscular dystrophy, congenital, with cerebellar atrophy semapv:UnspecifiedMatching MONDO:0011306 muscular dystrophy, congenital, with cerebellar atrophy skos:exactMatch UMLS:C1864028 semapv:UnspecifiedMatching MONDO:0011306 muscular dystrophy, congenital, with cerebellar atrophy skos:exactMatch mesh:C566392 semapv:UnspecifiedMatching MONDO:0011307 schizophrenia 2 skos:exactMatch DOID:0070078 schizophrenia 2 semapv:UnspecifiedMatching MONDO:0011307 schizophrenia 2 skos:exactMatch MEDGEN:350323 semapv:UnspecifiedMatching MONDO:0011307 schizophrenia 2 skos:exactMatch OMIM:603342 schizophrenia 2 semapv:UnspecifiedMatching MONDO:0011307 schizophrenia 2 skos:exactMatch UMLS:C1864010 semapv:UnspecifiedMatching MONDO:0011308 GRACILE syndrome skos:exactMatch DOID:0111455 GRACILE syndrome semapv:UnspecifiedMatching MONDO:0011308 GRACILE syndrome skos:exactMatch MEDGEN:400428 semapv:UnspecifiedMatching MONDO:0011308 GRACILE syndrome skos:exactMatch OMIM:603358 gracile syndrome semapv:UnspecifiedMatching MONDO:0011308 GRACILE syndrome skos:exactMatch Orphanet:53693 GRACILE syndrome semapv:UnspecifiedMatching MONDO:0011308 GRACILE syndrome skos:exactMatch SCTID:703388005 semapv:UnspecifiedMatching MONDO:0011308 GRACILE syndrome skos:exactMatch UMLS:C1864002 semapv:UnspecifiedMatching MONDO:0011308 GRACILE syndrome skos:exactMatch mesh:C537934 semapv:UnspecifiedMatching MONDO:0011309 familial gestational hyperthyroidism skos:exactMatch DOID:0081102 familial gestational hyperthyroidism semapv:UnspecifiedMatching MONDO:0011309 familial gestational hyperthyroidism skos:exactMatch MEDGEN:355106 semapv:UnspecifiedMatching MONDO:0011309 familial gestational hyperthyroidism skos:exactMatch OMIM:603373 hyperthyroidism, familial gestational semapv:UnspecifiedMatching MONDO:0011309 familial gestational hyperthyroidism skos:exactMatch Orphanet:99819 Familial gestational hyperthyroidism semapv:UnspecifiedMatching MONDO:0011309 familial gestational hyperthyroidism skos:exactMatch SCTID:703309000 semapv:UnspecifiedMatching MONDO:0011309 familial gestational hyperthyroidism skos:exactMatch UMLS:C1863959 semapv:UnspecifiedMatching MONDO:0011309 familial gestational hyperthyroidism skos:exactMatch icd11.foundation:811229304 Familial gestational hyperthyroidism semapv:UnspecifiedMatching MONDO:0011309 familial gestational hyperthyroidism skos:exactMatch mesh:C566384 semapv:UnspecifiedMatching MONDO:0011310 long chain fatty acids, defect in transport of skos:exactMatch MEDGEN:350307 semapv:UnspecifiedMatching MONDO:0011310 long chain fatty acids, defect in transport of skos:exactMatch OMIM:603376 long chain fatty acids, defect 1n transport of semapv:UnspecifiedMatching MONDO:0011310 long chain fatty acids, defect in transport of skos:exactMatch UMLS:C1863958 semapv:UnspecifiedMatching MONDO:0011311 obsolete glaucoma 1, open angle, F skos:exactMatch OMIM:603383 glaucoma 1, open angle, f semapv:UnspecifiedMatching MONDO:0011311 obsolete glaucoma 1, open angle, F skos:exactMatch mesh:C566383 semapv:UnspecifiedMatching MONDO:0011312 thyroid carcinoma, nonmedullary, with or without cell oxyphilia skos:exactMatch MEDGEN:400409 semapv:UnspecifiedMatching MONDO:0011312 thyroid carcinoma, nonmedullary, with or without cell oxyphilia skos:exactMatch OMIM:603386 thyroid carcinoma, nonmedullary, with or without cell oxyphilia semapv:UnspecifiedMatching MONDO:0011312 thyroid carcinoma, nonmedullary, with or without cell oxyphilia skos:exactMatch UMLS:C1863925 semapv:UnspecifiedMatching MONDO:0011312 thyroid carcinoma, nonmedullary, with or without cell oxyphilia skos:exactMatch mesh:C537842 semapv:UnspecifiedMatching MONDO:0011313 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 skos:exactMatch MEDGEN:861164 semapv:UnspecifiedMatching MONDO:0011313 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 skos:exactMatch OMIM:603387 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 semapv:UnspecifiedMatching MONDO:0011313 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 skos:exactMatch UMLS:C4012727 semapv:UnspecifiedMatching MONDO:0011313 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 skos:exactMatch mesh:C566381 semapv:UnspecifiedMatching MONDO:0011314 Graves disease, susceptibility to, 2 skos:exactMatch MEDGEN:350301 semapv:UnspecifiedMatching MONDO:0011314 Graves disease, susceptibility to, 2 skos:exactMatch OMIM:603388 graves disease, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0011314 Graves disease, susceptibility to, 2 skos:exactMatch UMLS:C1863923 semapv:UnspecifiedMatching MONDO:0011315 Osebold skeletal dysplasia/osteolysis syndrome skos:exactMatch MEDGEN:350300 semapv:UnspecifiedMatching MONDO:0011315 Osebold skeletal dysplasia/osteolysis syndrome skos:exactMatch OMIM:603389 osebold skeletal dysplasia/osteolysis syndrome semapv:UnspecifiedMatching MONDO:0011315 Osebold skeletal dysplasia/osteolysis syndrome skos:exactMatch UMLS:C1863922 semapv:UnspecifiedMatching MONDO:0011315 Osebold skeletal dysplasia/osteolysis syndrome skos:exactMatch mesh:C566380 semapv:UnspecifiedMatching MONDO:0011316 osteosclerotic chondrodysplasia, lethal, with intracellular inclusions skos:exactMatch MEDGEN:350298 semapv:UnspecifiedMatching MONDO:0011316 osteosclerotic chondrodysplasia, lethal, with intracellular inclusions skos:exactMatch OMIM:603393 osteosclerotic chondrodysplasia, lethal, with intracellular inclusions semapv:UnspecifiedMatching MONDO:0011316 osteosclerotic chondrodysplasia, lethal, with intracellular inclusions skos:exactMatch UMLS:C1863920 semapv:UnspecifiedMatching MONDO:0011316 osteosclerotic chondrodysplasia, lethal, with intracellular inclusions skos:exactMatch mesh:C566378 semapv:UnspecifiedMatching MONDO:0011317 microcephaly, severe, with skeletal anomalies including posterior rib-Gap defects skos:exactMatch MEDGEN:400408 semapv:UnspecifiedMatching MONDO:0011317 microcephaly, severe, with skeletal anomalies including posterior rib-Gap defects skos:exactMatch OMIM:603394 microcephaly, severe, with skeletal anomalies including posterior rib-gap defects semapv:UnspecifiedMatching MONDO:0011317 microcephaly, severe, with skeletal anomalies including posterior rib-Gap defects skos:exactMatch UMLS:C1863919 semapv:UnspecifiedMatching MONDO:0011317 microcephaly, severe, with skeletal anomalies including posterior rib-Gap defects skos:exactMatch mesh:C566377 semapv:UnspecifiedMatching MONDO:0011318 Tonoki syndrome skos:exactMatch MEDGEN:355094 semapv:UnspecifiedMatching MONDO:0011318 Tonoki syndrome skos:exactMatch OMIM:603396 tonoki syndrome semapv:UnspecifiedMatching MONDO:0011318 Tonoki syndrome skos:exactMatch UMLS:C1863918 semapv:UnspecifiedMatching MONDO:0011318 Tonoki syndrome skos:exactMatch mesh:C536967 semapv:UnspecifiedMatching MONDO:0011319 obsolete activator of liver function 1 skos:exactMatch OMIM:603416 ribosomal protein l21 pseudogene 1 semapv:UnspecifiedMatching MONDO:0011320 radioulnar synostosis-microcephaly-scoliosis syndrome skos:exactMatch MEDGEN:400399 semapv:UnspecifiedMatching MONDO:0011320 radioulnar synostosis-microcephaly-scoliosis syndrome skos:exactMatch OMIM:603438 tsukahara syndrome semapv:UnspecifiedMatching MONDO:0011320 radioulnar synostosis-microcephaly-scoliosis syndrome skos:exactMatch Orphanet:3268 Radioulnar synostosis-microcephaly-scoliosis syndrome semapv:UnspecifiedMatching MONDO:0011320 radioulnar synostosis-microcephaly-scoliosis syndrome skos:exactMatch UMLS:C1863881 semapv:UnspecifiedMatching MONDO:0011321 expansile bone lesions skos:exactMatch MEDGEN:350991 semapv:UnspecifiedMatching MONDO:0011321 expansile bone lesions skos:exactMatch OMIM:603439 expansile bone lesions semapv:UnspecifiedMatching MONDO:0011321 expansile bone lesions skos:exactMatch UMLS:C1863880 semapv:UnspecifiedMatching MONDO:0011321 expansile bone lesions skos:exactMatch mesh:C566375 semapv:UnspecifiedMatching MONDO:0011322 Oroacral syndrome, Verloes-Koulischer type skos:exactMatch MEDGEN:400398 semapv:UnspecifiedMatching MONDO:0011322 Oroacral syndrome, Verloes-Koulischer type skos:exactMatch OMIM:603446 oroacral syndrome, verloes-koulischer type semapv:UnspecifiedMatching MONDO:0011322 Oroacral syndrome, Verloes-Koulischer type skos:exactMatch UMLS:C1863879 semapv:UnspecifiedMatching MONDO:0011322 Oroacral syndrome, Verloes-Koulischer type skos:exactMatch mesh:C566374 semapv:UnspecifiedMatching MONDO:0011323 arhinia, choanal atresia, and microphthalmia skos:exactMatch MEDGEN:355084 semapv:UnspecifiedMatching MONDO:0011323 arhinia, choanal atresia, and microphthalmia skos:exactMatch OMIM:603457 bosma arhinia microphthalmia syndrome semapv:UnspecifiedMatching MONDO:0011323 arhinia, choanal atresia, and microphthalmia skos:exactMatch Orphanet:2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome semapv:UnspecifiedMatching MONDO:0011323 arhinia, choanal atresia, and microphthalmia skos:exactMatch SCTID:720511000 semapv:UnspecifiedMatching MONDO:0011323 arhinia, choanal atresia, and microphthalmia skos:exactMatch UMLS:C1863878 semapv:UnspecifiedMatching MONDO:0011323 arhinia, choanal atresia, and microphthalmia skos:exactMatch mesh:C537429 semapv:UnspecifiedMatching MONDO:0011325 Fanconi anemia complementation group F skos:exactMatch DOID:0111088 Fanconi anemia complementation group F semapv:UnspecifiedMatching MONDO:0011325 Fanconi anemia complementation group F skos:exactMatch MEDGEN:854016 semapv:UnspecifiedMatching MONDO:0011325 Fanconi anemia complementation group F skos:exactMatch NCIT:C125707 Fanconi Anemia, Complementation Group F semapv:UnspecifiedMatching MONDO:0011325 Fanconi anemia complementation group F skos:exactMatch OMIM:603467 fanconi anemia, complementation group f semapv:UnspecifiedMatching MONDO:0011325 Fanconi anemia complementation group F skos:exactMatch UMLS:C3469526 semapv:UnspecifiedMatching MONDO:0011326 citrullinemia, type II, adult-onset skos:exactMatch DOID:0070342 adult-onset type II citrullinemia semapv:UnspecifiedMatching MONDO:0011326 citrullinemia, type II, adult-onset skos:exactMatch OMIM:603471 citrin deficiency, adolescent or adult onset semapv:UnspecifiedMatching MONDO:0011327 neuronal intranuclear inclusion disease skos:exactMatch DOID:0081294 neuronal intranuclear inclusion disease semapv:UnspecifiedMatching MONDO:0011327 neuronal intranuclear inclusion disease skos:exactMatch MEDGEN:355075 semapv:UnspecifiedMatching MONDO:0011327 neuronal intranuclear inclusion disease skos:exactMatch NCIT:C122655 Neuronal Intranuclear Inclusion Disease semapv:UnspecifiedMatching MONDO:0011327 neuronal intranuclear inclusion disease skos:exactMatch OMIM:603472 neuronal intranuclear inclusion disease semapv:UnspecifiedMatching MONDO:0011327 neuronal intranuclear inclusion disease skos:exactMatch Orphanet:2289 Neuronal intranuclear inclusion disease semapv:UnspecifiedMatching MONDO:0011327 neuronal intranuclear inclusion disease skos:exactMatch SCTID:715437003 semapv:UnspecifiedMatching MONDO:0011327 neuronal intranuclear inclusion disease skos:exactMatch UMLS:C1863843 semapv:UnspecifiedMatching MONDO:0011327 neuronal intranuclear inclusion disease skos:exactMatch icd11.foundation:693937860 Neuronal intranuclear inclusion disease semapv:UnspecifiedMatching MONDO:0011327 neuronal intranuclear inclusion disease skos:exactMatch mesh:C537395 semapv:UnspecifiedMatching MONDO:0011330 spinocerebellar ataxia type 10 skos:exactMatch DOID:0050960 spinocerebellar ataxia 10 semapv:UnspecifiedMatching MONDO:0011330 spinocerebellar ataxia type 10 skos:exactMatch MEDGEN:369786 semapv:UnspecifiedMatching MONDO:0011330 spinocerebellar ataxia type 10 skos:exactMatch OMIM:603516 spinocerebellar ataxia 10 semapv:UnspecifiedMatching MONDO:0011330 spinocerebellar ataxia type 10 skos:exactMatch Orphanet:98761 Spinocerebellar ataxia type 10 semapv:UnspecifiedMatching MONDO:0011330 spinocerebellar ataxia type 10 skos:exactMatch SCTID:715754007 semapv:UnspecifiedMatching MONDO:0011330 spinocerebellar ataxia type 10 skos:exactMatch UMLS:C1963674 semapv:UnspecifiedMatching MONDO:0011330 spinocerebellar ataxia type 10 skos:exactMatch icd11.foundation:157300879 Spinocerebellar ataxia type 10 semapv:UnspecifiedMatching MONDO:0011330 spinocerebellar ataxia type 10 skos:exactMatch mesh:C566874 semapv:UnspecifiedMatching MONDO:0011331 congenital chylothorax skos:exactMatch DOID:0060646 congenital chylothorax semapv:UnspecifiedMatching MONDO:0011331 congenital chylothorax skos:exactMatch MEDGEN:87398 semapv:UnspecifiedMatching MONDO:0011331 congenital chylothorax skos:exactMatch OMIM:603523 chylothorax, congenital semapv:UnspecifiedMatching MONDO:0011331 congenital chylothorax skos:exactMatch Orphanet:264688 Congenital chylothorax semapv:UnspecifiedMatching MONDO:0011331 congenital chylothorax skos:exactMatch SCTID:233646003 semapv:UnspecifiedMatching MONDO:0011331 congenital chylothorax skos:exactMatch UMLS:C0340014 semapv:UnspecifiedMatching MONDO:0011331 congenital chylothorax skos:exactMatch icd11.foundation:641475779 Congenital chylothorax semapv:UnspecifiedMatching MONDO:0011331 congenital chylothorax skos:exactMatch mesh:C535461 semapv:UnspecifiedMatching MONDO:0011332 Dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin skos:exactMatch MEDGEN:813565 semapv:UnspecifiedMatching MONDO:0011332 Dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin skos:exactMatch OMIM:603529 dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin semapv:UnspecifiedMatching MONDO:0011332 Dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin skos:exactMatch UMLS:C3807235 semapv:UnspecifiedMatching MONDO:0011334 limb-mammary syndrome skos:exactMatch MEDGEN:355051 semapv:UnspecifiedMatching MONDO:0011334 limb-mammary syndrome skos:exactMatch OMIM:603543 limb-mammary syndrome semapv:UnspecifiedMatching MONDO:0011334 limb-mammary syndrome skos:exactMatch Orphanet:69085 Limb-mammary syndrome semapv:UnspecifiedMatching MONDO:0011334 limb-mammary syndrome skos:exactMatch SCTID:721972001 semapv:UnspecifiedMatching MONDO:0011334 limb-mammary syndrome skos:exactMatch UMLS:C1863753 semapv:UnspecifiedMatching MONDO:0011334 limb-mammary syndrome skos:exactMatch icd11.foundation:1958986288 Limb-mammary syndrome semapv:UnspecifiedMatching MONDO:0011334 limb-mammary syndrome skos:exactMatch mesh:C535903 semapv:UnspecifiedMatching MONDO:0011335 spondyloepimetaphyseal dysplasia with multiple dislocations skos:exactMatch DOID:0112199 spondyloepimetaphyseal dysplasia with joint laxity type 2 semapv:UnspecifiedMatching MONDO:0011335 spondyloepimetaphyseal dysplasia with multiple dislocations skos:exactMatch MEDGEN:350960 semapv:UnspecifiedMatching MONDO:0011335 spondyloepimetaphyseal dysplasia with multiple dislocations skos:exactMatch NCIT:C125419 Spondyloepimetaphyseal Dysplasia with Joint Laxity Type 2 semapv:UnspecifiedMatching MONDO:0011335 spondyloepimetaphyseal dysplasia with multiple dislocations skos:exactMatch OMIM:603546 spondyloepimetaphyseal dysplasia with joint laxity, type 2 semapv:UnspecifiedMatching MONDO:0011335 spondyloepimetaphyseal dysplasia with multiple dislocations skos:exactMatch Orphanet:93360 Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type semapv:UnspecifiedMatching MONDO:0011335 spondyloepimetaphyseal dysplasia with multiple dislocations skos:exactMatch SCTID:766820007 semapv:UnspecifiedMatching MONDO:0011335 spondyloepimetaphyseal dysplasia with multiple dislocations skos:exactMatch UMLS:C1863732 semapv:UnspecifiedMatching MONDO:0011335 spondyloepimetaphyseal dysplasia with multiple dislocations skos:exactMatch mesh:C535784 semapv:UnspecifiedMatching MONDO:0011336 familial hemophagocytic lymphohistiocytosis 4 skos:exactMatch DOID:0110924 familial hemophagocytic lymphohistiocytosis 4 semapv:UnspecifiedMatching MONDO:0011336 familial hemophagocytic lymphohistiocytosis 4 skos:exactMatch MEDGEN:350245 semapv:UnspecifiedMatching MONDO:0011336 familial hemophagocytic lymphohistiocytosis 4 skos:exactMatch OMIM:603552 hemophagocytic lymphohistiocytosis, familial, 4 semapv:UnspecifiedMatching MONDO:0011336 familial hemophagocytic lymphohistiocytosis 4 skos:exactMatch UMLS:C1863728 semapv:UnspecifiedMatching MONDO:0011336 familial hemophagocytic lymphohistiocytosis 4 skos:exactMatch mesh:C537252 semapv:UnspecifiedMatching MONDO:0011337 familial hemophagocytic lymphohistiocytosis 2 skos:exactMatch DOID:0110922 familial hemophagocytic lymphohistiocytosis 2 semapv:UnspecifiedMatching MONDO:0011337 familial hemophagocytic lymphohistiocytosis 2 skos:exactMatch MEDGEN:400366 semapv:UnspecifiedMatching MONDO:0011337 familial hemophagocytic lymphohistiocytosis 2 skos:exactMatch OMIM:603553 hemophagocytic lymphohistiocytosis, familial, 2 semapv:UnspecifiedMatching MONDO:0011337 familial hemophagocytic lymphohistiocytosis 2 skos:exactMatch UMLS:C1863727 semapv:UnspecifiedMatching MONDO:0011337 familial hemophagocytic lymphohistiocytosis 2 skos:exactMatch mesh:C537250 semapv:UnspecifiedMatching MONDO:0011338 Omenn syndrome skos:exactMatch DOID:0060010 Omenn syndrome semapv:UnspecifiedMatching MONDO:0011338 Omenn syndrome skos:exactMatch MEDGEN:398130 semapv:UnspecifiedMatching MONDO:0011338 Omenn syndrome skos:exactMatch NCIT:C61240 Omenn Syndrome semapv:UnspecifiedMatching MONDO:0011338 Omenn syndrome skos:exactMatch OMIM:603554 omenn syndrome semapv:UnspecifiedMatching MONDO:0011338 Omenn syndrome skos:exactMatch Orphanet:39041 Omenn syndrome semapv:UnspecifiedMatching MONDO:0011338 Omenn syndrome skos:exactMatch SCTID:722067005 semapv:UnspecifiedMatching MONDO:0011338 Omenn syndrome skos:exactMatch UMLS:C2700553 semapv:UnspecifiedMatching MONDO:0011339 hereditary spastic paraplegia 8 skos:exactMatch DOID:0110823 hereditary spastic paraplegia 8 semapv:UnspecifiedMatching MONDO:0011339 hereditary spastic paraplegia 8 skos:exactMatch MEDGEN:400359 semapv:UnspecifiedMatching MONDO:0011339 hereditary spastic paraplegia 8 skos:exactMatch OMIM:603563 spastic paraplegia 8, autosomal dominant semapv:UnspecifiedMatching MONDO:0011339 hereditary spastic paraplegia 8 skos:exactMatch Orphanet:100989 Autosomal dominant spastic paraplegia type 8 semapv:UnspecifiedMatching MONDO:0011339 hereditary spastic paraplegia 8 skos:exactMatch UMLS:C1863704 semapv:UnspecifiedMatching MONDO:0011339 hereditary spastic paraplegia 8 skos:exactMatch mesh:C580458 semapv:UnspecifiedMatching MONDO:0011340 congenital tracheal stenosis skos:exactMatch MEDGEN:120556 semapv:UnspecifiedMatching MONDO:0011340 congenital tracheal stenosis skos:exactMatch OMIM:603569 tracheobronchial stenosis, congenital semapv:UnspecifiedMatching MONDO:0011340 congenital tracheal stenosis skos:exactMatch Orphanet:141127 Congenital tracheal stenosis semapv:UnspecifiedMatching MONDO:0011340 congenital tracheal stenosis skos:exactMatch SCTID:9660004 semapv:UnspecifiedMatching MONDO:0011340 congenital tracheal stenosis skos:exactMatch UMLS:C0265767 semapv:UnspecifiedMatching MONDO:0011340 congenital tracheal stenosis skos:exactMatch icd11.foundation:2095672409 Congenital stenosis of trachea semapv:UnspecifiedMatching MONDO:0011340 congenital tracheal stenosis skos:exactMatch mesh:C566362 semapv:UnspecifiedMatching MONDO:0011341 microcephaly, facial abnormalities, micromelia, and intellectual disability skos:exactMatch MEDGEN:350957 semapv:UnspecifiedMatching MONDO:0011341 microcephaly, facial abnormalities, micromelia, and intellectual disability skos:exactMatch OMIM:603572 microcephaly, facial abnormalities, micromelia, and impaired intellectual development semapv:UnspecifiedMatching MONDO:0011341 microcephaly, facial abnormalities, micromelia, and intellectual disability skos:exactMatch UMLS:C1863702 semapv:UnspecifiedMatching MONDO:0011341 microcephaly, facial abnormalities, micromelia, and intellectual disability skos:exactMatch mesh:C566361 semapv:UnspecifiedMatching MONDO:0011342 SLC35A1-congenital disorder of glycosylation skos:exactMatch DOID:0070258 congenital disorder of glycosylation type IIf semapv:UnspecifiedMatching MONDO:0011342 SLC35A1-congenital disorder of glycosylation skos:exactMatch MEDGEN:370234 semapv:UnspecifiedMatching MONDO:0011342 SLC35A1-congenital disorder of glycosylation skos:exactMatch OMIM:603585 congenital disorder of glycosylation, type iif semapv:UnspecifiedMatching MONDO:0011342 SLC35A1-congenital disorder of glycosylation skos:exactMatch Orphanet:238459 SLC35A1-CDG semapv:UnspecifiedMatching MONDO:0011342 SLC35A1-congenital disorder of glycosylation skos:exactMatch SCTID:723624008 semapv:UnspecifiedMatching MONDO:0011342 SLC35A1-congenital disorder of glycosylation skos:exactMatch UMLS:C1970344 semapv:UnspecifiedMatching MONDO:0011342 SLC35A1-congenital disorder of glycosylation skos:exactMatch mesh:C567040 semapv:UnspecifiedMatching MONDO:0011343 follicular atrophoderma, perioral pigmented, with milia and epidermoid cysts skos:exactMatch MEDGEN:350955 semapv:UnspecifiedMatching MONDO:0011343 follicular atrophoderma, perioral pigmented, with milia and epidermoid cysts skos:exactMatch OMIM:603587 follicular atrophoderma, perioral pigmented, with milia and epidermoid cysts semapv:UnspecifiedMatching MONDO:0011343 follicular atrophoderma, perioral pigmented, with milia and epidermoid cysts skos:exactMatch UMLS:C1863692 semapv:UnspecifiedMatching MONDO:0011343 follicular atrophoderma, perioral pigmented, with milia and epidermoid cysts skos:exactMatch mesh:C566360 semapv:UnspecifiedMatching MONDO:0011344 parotitis, juvenile recurrent skos:exactMatch MEDGEN:350954 semapv:UnspecifiedMatching MONDO:0011344 parotitis, juvenile recurrent skos:exactMatch OMIM:603588 parotitis, juvenile recurrent semapv:UnspecifiedMatching MONDO:0011344 parotitis, juvenile recurrent skos:exactMatch UMLS:C1863691 semapv:UnspecifiedMatching MONDO:0011344 parotitis, juvenile recurrent skos:exactMatch mesh:C566359 semapv:UnspecifiedMatching MONDO:0011345 facial dysmorphism, selective tooth agenesis, and choroid calcification skos:exactMatch MEDGEN:370233 semapv:UnspecifiedMatching MONDO:0011345 facial dysmorphism, selective tooth agenesis, and choroid calcification skos:exactMatch OMIM:603589 facial dysmorphism, selective tooth agenesis, and choroid calcification semapv:UnspecifiedMatching MONDO:0011345 facial dysmorphism, selective tooth agenesis, and choroid calcification skos:exactMatch UMLS:C1970343 semapv:UnspecifiedMatching MONDO:0011345 facial dysmorphism, selective tooth agenesis, and choroid calcification skos:exactMatch mesh:C567039 semapv:UnspecifiedMatching MONDO:0011346 xanthinuria type II skos:exactMatch DOID:0070453 xanthinuria type II semapv:UnspecifiedMatching MONDO:0011346 xanthinuria type II skos:exactMatch MEDGEN:350953 semapv:UnspecifiedMatching MONDO:0011346 xanthinuria type II skos:exactMatch OMIM:603592 xanthinuria, type 2 semapv:UnspecifiedMatching MONDO:0011346 xanthinuria type II skos:exactMatch Orphanet:93602 Xanthinuria type II semapv:UnspecifiedMatching MONDO:0011346 xanthinuria type II skos:exactMatch UMLS:C1863688 semapv:UnspecifiedMatching MONDO:0011346 xanthinuria type II skos:exactMatch mesh:C566358 semapv:UnspecifiedMatching MONDO:0011347 craniosynostosis with ectopia lentis skos:exactMatch MEDGEN:350949 semapv:UnspecifiedMatching MONDO:0011347 craniosynostosis with ectopia lentis skos:exactMatch OMIM:603595 craniosynostosis with ectopia lentis semapv:UnspecifiedMatching MONDO:0011347 craniosynostosis with ectopia lentis skos:exactMatch UMLS:C1863678 semapv:UnspecifiedMatching MONDO:0011347 craniosynostosis with ectopia lentis skos:exactMatch mesh:C566357 semapv:UnspecifiedMatching MONDO:0011348 non-syndromic polydactyly skos:exactMatch Orphanet:2913 Non-syndromic polydactyly semapv:UnspecifiedMatching MONDO:0011348 non-syndromic polydactyly skos:exactMatch icd11.foundation:1534380955 Polydactyly semapv:UnspecifiedMatching MONDO:0011349 osteoma of cranial vault, familial skos:exactMatch MEDGEN:350948 semapv:UnspecifiedMatching MONDO:0011349 osteoma of cranial vault, familial skos:exactMatch OMIM:603600 osteoma of cranial vault, familial semapv:UnspecifiedMatching MONDO:0011349 osteoma of cranial vault, familial skos:exactMatch UMLS:C1863677 semapv:UnspecifiedMatching MONDO:0011349 osteoma of cranial vault, familial skos:exactMatch mesh:C566356 semapv:UnspecifiedMatching MONDO:0011350 autosomal dominant nonsyndromic hearing loss 17 skos:exactMatch DOID:0110548 autosomal dominant nonsyndromic deafness 17 semapv:UnspecifiedMatching MONDO:0011350 autosomal dominant nonsyndromic hearing loss 17 skos:exactMatch MEDGEN:350942 semapv:UnspecifiedMatching MONDO:0011350 autosomal dominant nonsyndromic hearing loss 17 skos:exactMatch OMIM:603622 deafness, autosomal dominant 17 semapv:UnspecifiedMatching MONDO:0011350 autosomal dominant nonsyndromic hearing loss 17 skos:exactMatch UMLS:C1863659 semapv:UnspecifiedMatching MONDO:0011351 autosomal recessive nonsyndromic hearing loss 21 skos:exactMatch DOID:0110479 autosomal recessive nonsyndromic deafness 21 semapv:UnspecifiedMatching MONDO:0011351 autosomal recessive nonsyndromic hearing loss 21 skos:exactMatch MEDGEN:355030 semapv:UnspecifiedMatching MONDO:0011351 autosomal recessive nonsyndromic hearing loss 21 skos:exactMatch OMIM:603629 deafness, autosomal recessive 21 semapv:UnspecifiedMatching MONDO:0011351 autosomal recessive nonsyndromic hearing loss 21 skos:exactMatch UMLS:C1863655 semapv:UnspecifiedMatching MONDO:0011351 autosomal recessive nonsyndromic hearing loss 21 skos:exactMatch mesh:C566353 semapv:UnspecifiedMatching MONDO:0011352 neuroendocrine carcinoma of salivary glands, sensorineural hearing loss, and enamel hypoplasia skos:exactMatch MEDGEN:355029 semapv:UnspecifiedMatching MONDO:0011352 neuroendocrine carcinoma of salivary glands, sensorineural hearing loss, and enamel hypoplasia skos:exactMatch OMIM:603641 neuroendocrine carcinoma of salivary glands, sensorineural hearing loss, and enamel hypoplasia semapv:UnspecifiedMatching MONDO:0011352 neuroendocrine carcinoma of salivary glands, sensorineural hearing loss, and enamel hypoplasia skos:exactMatch UMLS:C1863649 semapv:UnspecifiedMatching MONDO:0011352 neuroendocrine carcinoma of salivary glands, sensorineural hearing loss, and enamel hypoplasia skos:exactMatch mesh:C566352 semapv:UnspecifiedMatching MONDO:0011353 atrial septal defect, secundum, with various cardiac and Noncardiac defects skos:exactMatch MEDGEN:400350 semapv:UnspecifiedMatching MONDO:0011353 atrial septal defect, secundum, with various cardiac and Noncardiac defects skos:exactMatch OMIM:603642 atrial septal defect, secundum, with various cardiac and noncardiac defects semapv:UnspecifiedMatching MONDO:0011353 atrial septal defect, secundum, with various cardiac and Noncardiac defects skos:exactMatch UMLS:C1863648 semapv:UnspecifiedMatching MONDO:0011353 atrial septal defect, secundum, with various cardiac and Noncardiac defects skos:exactMatch mesh:C566351 semapv:UnspecifiedMatching MONDO:0011354 situs inversus totalis with cystic dysplasia of kidneys and pancreas skos:exactMatch MEDGEN:400349 semapv:UnspecifiedMatching MONDO:0011354 situs inversus totalis with cystic dysplasia of kidneys and pancreas skos:exactMatch OMIM:603643 situs inversus totalis with cystic dysplasia of kidneys and pancreas semapv:UnspecifiedMatching MONDO:0011354 situs inversus totalis with cystic dysplasia of kidneys and pancreas skos:exactMatch UMLS:C1863647 semapv:UnspecifiedMatching MONDO:0011354 situs inversus totalis with cystic dysplasia of kidneys and pancreas skos:exactMatch mesh:C536666 semapv:UnspecifiedMatching MONDO:0011355 cone-rod dystrophy 7 skos:exactMatch DOID:0111012 cone-rod dystrophy 7 semapv:UnspecifiedMatching MONDO:0011355 cone-rod dystrophy 7 skos:exactMatch MEDGEN:355026 semapv:UnspecifiedMatching MONDO:0011355 cone-rod dystrophy 7 skos:exactMatch OMIM:603649 cone-rod dystrophy 7 semapv:UnspecifiedMatching MONDO:0011355 cone-rod dystrophy 7 skos:exactMatch UMLS:C1863634 semapv:UnspecifiedMatching MONDO:0011355 cone-rod dystrophy 7 skos:exactMatch mesh:C566350 semapv:UnspecifiedMatching MONDO:0011356 exostosis, Dupuytren subungual skos:exactMatch MEDGEN:350935 semapv:UnspecifiedMatching MONDO:0011356 exostosis, Dupuytren subungual skos:exactMatch OMIM:603656 exostosis, dupuytren subungual semapv:UnspecifiedMatching MONDO:0011356 exostosis, Dupuytren subungual skos:exactMatch UMLS:C1863622 semapv:UnspecifiedMatching MONDO:0011356 exostosis, Dupuytren subungual skos:exactMatch mesh:C535723 semapv:UnspecifiedMatching MONDO:0011357 eccrine syringofibroadenomatosis with eyelid abnormalities skos:exactMatch MEDGEN:355022 semapv:UnspecifiedMatching MONDO:0011357 eccrine syringofibroadenomatosis with eyelid abnormalities skos:exactMatch OMIM:603669 eccrine syringofibroadenomatosis with eyelid abnormalities semapv:UnspecifiedMatching MONDO:0011357 eccrine syringofibroadenomatosis with eyelid abnormalities skos:exactMatch UMLS:C1863618 semapv:UnspecifiedMatching MONDO:0011357 eccrine syringofibroadenomatosis with eyelid abnormalities skos:exactMatch mesh:C566347 semapv:UnspecifiedMatching MONDO:0011358 blue nevi, familial multiple skos:exactMatch MEDGEN:400340 semapv:UnspecifiedMatching MONDO:0011358 blue nevi, familial multiple skos:exactMatch OMIM:603670 blue nevi, familial multiple semapv:UnspecifiedMatching MONDO:0011358 blue nevi, familial multiple skos:exactMatch UMLS:C1863617 semapv:UnspecifiedMatching MONDO:0011358 blue nevi, familial multiple skos:exactMatch mesh:C566346 semapv:UnspecifiedMatching MONDO:0011359 acromelic frontonasal dysostosis skos:exactMatch DOID:0060342 acromelic frontonasal dysostosis semapv:UnspecifiedMatching MONDO:0011359 acromelic frontonasal dysostosis skos:exactMatch MEDGEN:350933 semapv:UnspecifiedMatching MONDO:0011359 acromelic frontonasal dysostosis skos:exactMatch OMIM:603671 acromelic frontonasal dysostosis semapv:UnspecifiedMatching MONDO:0011359 acromelic frontonasal dysostosis skos:exactMatch Orphanet:1827 Acromelic frontonasal dysplasia semapv:UnspecifiedMatching MONDO:0011359 acromelic frontonasal dysostosis skos:exactMatch SCTID:715427008 semapv:UnspecifiedMatching MONDO:0011359 acromelic frontonasal dysostosis skos:exactMatch UMLS:C1863616 semapv:UnspecifiedMatching MONDO:0011359 acromelic frontonasal dysostosis skos:exactMatch mesh:C566345 semapv:UnspecifiedMatching MONDO:0011360 autosomal recessive nonsyndromic hearing loss 14 skos:exactMatch DOID:0110469 autosomal recessive nonsyndromic deafness 14 semapv:UnspecifiedMatching MONDO:0011360 autosomal recessive nonsyndromic hearing loss 14 skos:exactMatch MEDGEN:350931 semapv:UnspecifiedMatching MONDO:0011360 autosomal recessive nonsyndromic hearing loss 14 skos:exactMatch OMIM:603678 deafness, autosomal recessive 14 semapv:UnspecifiedMatching MONDO:0011360 autosomal recessive nonsyndromic hearing loss 14 skos:exactMatch UMLS:C1863613 semapv:UnspecifiedMatching MONDO:0011360 autosomal recessive nonsyndromic hearing loss 14 skos:exactMatch mesh:C566344 semapv:UnspecifiedMatching MONDO:0011361 prostate cancer/brain cancer susceptibility skos:exactMatch MEDGEN:400334 semapv:UnspecifiedMatching MONDO:0011361 prostate cancer/brain cancer susceptibility skos:exactMatch OMIM:603688 prostate cancer/brain cancer susceptibility semapv:UnspecifiedMatching MONDO:0011361 prostate cancer/brain cancer susceptibility skos:exactMatch UMLS:C1863600 semapv:UnspecifiedMatching MONDO:0011362 myopathy, myofibrillar, 9, with early respiratory failure skos:exactMatch DOID:0111188 myofibrillar myopathy 9 semapv:UnspecifiedMatching MONDO:0011362 myopathy, myofibrillar, 9, with early respiratory failure skos:exactMatch MEDGEN:350930 semapv:UnspecifiedMatching MONDO:0011362 myopathy, myofibrillar, 9, with early respiratory failure skos:exactMatch OMIM:603689 myopathy, myofibrillar, 9, with early respiratory failure semapv:UnspecifiedMatching MONDO:0011362 myopathy, myofibrillar, 9, with early respiratory failure skos:exactMatch Orphanet:178464 Hereditary myopathy with early respiratory failure semapv:UnspecifiedMatching MONDO:0011362 myopathy, myofibrillar, 9, with early respiratory failure skos:exactMatch SCTID:702373006 semapv:UnspecifiedMatching MONDO:0011362 myopathy, myofibrillar, 9, with early respiratory failure skos:exactMatch UMLS:C1863599 semapv:UnspecifiedMatching MONDO:0011362 myopathy, myofibrillar, 9, with early respiratory failure skos:exactMatch mesh:C564377 semapv:UnspecifiedMatching MONDO:0011362 myopathy, myofibrillar, 9, with early respiratory failure skos:exactMatch mesh:C566343 semapv:UnspecifiedMatching MONDO:0011363 diabetes mellitus, noninsulin-dependent, 3 skos:exactMatch MEDGEN:400332 semapv:UnspecifiedMatching MONDO:0011363 diabetes mellitus, noninsulin-dependent, 3 skos:exactMatch OMIM:603694 type 2 diabetes mellitus 3 semapv:UnspecifiedMatching MONDO:0011363 diabetes mellitus, noninsulin-dependent, 3 skos:exactMatch UMLS:C1863594 semapv:UnspecifiedMatching MONDO:0011363 diabetes mellitus, noninsulin-dependent, 3 skos:exactMatch mesh:C566342 semapv:UnspecifiedMatching MONDO:0011364 autosomal recessive nonsyndromic hearing loss 16 skos:exactMatch DOID:0110471 autosomal recessive nonsyndromic deafness 16 semapv:UnspecifiedMatching MONDO:0011364 autosomal recessive nonsyndromic hearing loss 16 skos:exactMatch MEDGEN:350211 semapv:UnspecifiedMatching MONDO:0011364 autosomal recessive nonsyndromic hearing loss 16 skos:exactMatch OMIM:603720 deafness, autosomal recessive 16 semapv:UnspecifiedMatching MONDO:0011364 autosomal recessive nonsyndromic hearing loss 16 skos:exactMatch UMLS:C1863561 semapv:UnspecifiedMatching MONDO:0011364 autosomal recessive nonsyndromic hearing loss 16 skos:exactMatch mesh:C566339 semapv:UnspecifiedMatching MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type skos:exactMatch DOID:0060290 Ohdo syndrome, SBBYS variant semapv:UnspecifiedMatching MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type skos:exactMatch MEDGEN:350209 semapv:UnspecifiedMatching MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type skos:exactMatch OMIM:603736 ohdo syndrome, sbbys variant semapv:UnspecifiedMatching MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type skos:exactMatch Orphanet:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type semapv:UnspecifiedMatching MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type skos:exactMatch SCTID:699298009 semapv:UnspecifiedMatching MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type skos:exactMatch UMLS:C1863557 semapv:UnspecifiedMatching MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type skos:exactMatch mesh:C536717 semapv:UnspecifiedMatching MONDO:0011366 ovarian germ cell tumor skos:exactMatch DOID:2156 ovarian germ cell cancer semapv:UnspecifiedMatching MONDO:0011366 ovarian germ cell tumor skos:exactMatch EFO:1000419 semapv:UnspecifiedMatching MONDO:0011366 ovarian germ cell tumor skos:exactMatch MEDGEN:65958 semapv:UnspecifiedMatching MONDO:0011366 ovarian germ cell tumor skos:exactMatch NCIT:C3873 Ovarian Germ Cell Tumor semapv:UnspecifiedMatching MONDO:0011366 ovarian germ cell tumor skos:exactMatch OMIM:603737 ovarian germ cell cancer semapv:UnspecifiedMatching MONDO:0011366 ovarian germ cell tumor skos:exactMatch SCTID:237059008 semapv:UnspecifiedMatching MONDO:0011366 ovarian germ cell tumor skos:exactMatch UMLS:C0238324 semapv:UnspecifiedMatching MONDO:0011367 Acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia skos:exactMatch MEDGEN:355009 semapv:UnspecifiedMatching MONDO:0011367 Acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia skos:exactMatch OMIM:603740 acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia semapv:UnspecifiedMatching MONDO:0011367 Acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia skos:exactMatch UMLS:C1863556 semapv:UnspecifiedMatching MONDO:0011367 Acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia skos:exactMatch mesh:C538181 semapv:UnspecifiedMatching MONDO:0011368 papillary thyroid Microcarcinoma skos:exactMatch MEDGEN:313563 semapv:UnspecifiedMatching MONDO:0011368 papillary thyroid Microcarcinoma skos:exactMatch NCIT:C46004 Thyroid Gland Papillary Microcarcinoma semapv:UnspecifiedMatching MONDO:0011368 papillary thyroid Microcarcinoma skos:exactMatch OMIM:603744 papillary thyroid microcarcinoma semapv:UnspecifiedMatching MONDO:0011368 papillary thyroid Microcarcinoma skos:exactMatch UMLS:C1709457 semapv:UnspecifiedMatching MONDO:0011368 papillary thyroid Microcarcinoma skos:exactMatch mesh:C563277 semapv:UnspecifiedMatching MONDO:0011369 hypercholesterolemia, autosomal dominant, 3 skos:exactMatch MEDGEN:355007 semapv:UnspecifiedMatching MONDO:0011369 hypercholesterolemia, autosomal dominant, 3 skos:exactMatch OMIM:603776 hypercholesterolemia, familial, 3 semapv:UnspecifiedMatching MONDO:0011369 hypercholesterolemia, autosomal dominant, 3 skos:exactMatch UMLS:C1863551 semapv:UnspecifiedMatching MONDO:0011369 hypercholesterolemia, autosomal dominant, 3 skos:exactMatch mesh:C566337 semapv:UnspecifiedMatching MONDO:0011370 Stargardt disease 4 skos:exactMatch DOID:0061239 semapv:UnspecifiedMatching MONDO:0011370 Stargardt disease 4 skos:exactMatch MEDGEN:355004 semapv:UnspecifiedMatching MONDO:0011370 Stargardt disease 4 skos:exactMatch OMIM:603786 stargardt disease 4 semapv:UnspecifiedMatching MONDO:0011370 Stargardt disease 4 skos:exactMatch UMLS:C1863534 semapv:UnspecifiedMatching MONDO:0011370 Stargardt disease 4 skos:exactMatch mesh:C535521 semapv:UnspecifiedMatching MONDO:0011371 hydroa vacciniforme, familial skos:exactMatch MEDGEN:355003 semapv:UnspecifiedMatching MONDO:0011371 hydroa vacciniforme, familial skos:exactMatch OMIM:603794 hydroa vacciniforme, familial semapv:UnspecifiedMatching MONDO:0011371 hydroa vacciniforme, familial skos:exactMatch UMLS:C1863533 semapv:UnspecifiedMatching MONDO:0011371 hydroa vacciniforme, familial skos:exactMatch mesh:C536077 semapv:UnspecifiedMatching MONDO:0011372 microcephaly with simplified gyral pattern skos:exactMatch MEDGEN:350198 semapv:UnspecifiedMatching MONDO:0011372 microcephaly with simplified gyral pattern skos:exactMatch OMIM:603802 microcephaly with simplified gyral pattern semapv:UnspecifiedMatching MONDO:0011372 microcephaly with simplified gyral pattern skos:exactMatch UMLS:C1863516 semapv:UnspecifiedMatching MONDO:0011372 microcephaly with simplified gyral pattern skos:exactMatch mesh:C566332 semapv:UnspecifiedMatching MONDO:0011373 urinary tract infections, recurrent, susceptibility to skos:exactMatch MEDGEN:350196 semapv:UnspecifiedMatching MONDO:0011373 urinary tract infections, recurrent, susceptibility to skos:exactMatch OMIM:603806 urinary tract infections, recurrent, susceptibility to semapv:UnspecifiedMatching MONDO:0011373 urinary tract infections, recurrent, susceptibility to skos:exactMatch UMLS:C1863514 semapv:UnspecifiedMatching MONDO:0011374 hypercholesterolemia, familial, 4 skos:exactMatch DOID:0090105 autosomal recessive hypercholesterolemia semapv:UnspecifiedMatching MONDO:0011374 hypercholesterolemia, familial, 4 skos:exactMatch MEDGEN:400313 semapv:UnspecifiedMatching MONDO:0011374 hypercholesterolemia, familial, 4 skos:exactMatch NCIT:C128114 Hypercholesterolemia, Familial, 4 semapv:UnspecifiedMatching MONDO:0011374 hypercholesterolemia, familial, 4 skos:exactMatch OMIM:603813 hypercholesterolemia, familial, 4 semapv:UnspecifiedMatching MONDO:0011374 hypercholesterolemia, familial, 4 skos:exactMatch UMLS:C1863512 semapv:UnspecifiedMatching MONDO:0011374 hypercholesterolemia, familial, 4 skos:exactMatch mesh:C566331 semapv:UnspecifiedMatching MONDO:0011375 brittle bone disorder skos:exactMatch MEDGEN:347059 semapv:UnspecifiedMatching MONDO:0011375 brittle bone disorder skos:exactMatch OMIM:603828 brittle bone disorder semapv:UnspecifiedMatching MONDO:0011375 brittle bone disorder skos:exactMatch UMLS:C1859069 semapv:UnspecifiedMatching MONDO:0011375 brittle bone disorder skos:exactMatch mesh:C565842 semapv:UnspecifiedMatching MONDO:0011376 ventricular fibrillation, paroxysmal familial, type 1 skos:exactMatch MEDGEN:414502 semapv:UnspecifiedMatching MONDO:0011376 ventricular fibrillation, paroxysmal familial, type 1 skos:exactMatch OMIM:603829 ventricular fibrillation, paroxysmal familial, 1 semapv:UnspecifiedMatching MONDO:0011376 ventricular fibrillation, paroxysmal familial, type 1 skos:exactMatch SCTID:233915000 semapv:UnspecifiedMatching MONDO:0011376 ventricular fibrillation, paroxysmal familial, type 1 skos:exactMatch UMLS:C2751898 semapv:UnspecifiedMatching MONDO:0011376 ventricular fibrillation, paroxysmal familial, type 1 skos:exactMatch mesh:C567851 semapv:UnspecifiedMatching MONDO:0011377 long QT syndrome 3 skos:exactMatch DOID:0110646 long QT syndrome 3 semapv:UnspecifiedMatching MONDO:0011377 long QT syndrome 3 skos:exactMatch MEDGEN:349087 semapv:UnspecifiedMatching MONDO:0011377 long QT syndrome 3 skos:exactMatch NCIT:C137959 Long QT Syndrome 3 semapv:UnspecifiedMatching MONDO:0011377 long QT syndrome 3 skos:exactMatch OMIM:603830 long qt syndrome 3 semapv:UnspecifiedMatching MONDO:0011377 long QT syndrome 3 skos:exactMatch UMLS:C1859062 semapv:UnspecifiedMatching MONDO:0011377 long QT syndrome 3 skos:exactMatch mesh:C565840 semapv:UnspecifiedMatching MONDO:0011378 obsolete CFM1 skos:exactMatch OMIM:603855 cystic fibrosis, modifier of, 1 semapv:UnspecifiedMatching MONDO:0011381 dominant beta-thalassemia skos:exactMatch DOID:0080770 autosomal dominant beta thalassemia semapv:UnspecifiedMatching MONDO:0011381 dominant beta-thalassemia skos:exactMatch MEDGEN:347036 semapv:UnspecifiedMatching MONDO:0011381 dominant beta-thalassemia skos:exactMatch OMIM:603902 beta-thalassemia, dominant inclusion body type semapv:UnspecifiedMatching MONDO:0011381 dominant beta-thalassemia skos:exactMatch Orphanet:231226 Dominant beta-thalassemia semapv:UnspecifiedMatching MONDO:0011381 dominant beta-thalassemia skos:exactMatch SCTID:716682000 semapv:UnspecifiedMatching MONDO:0011381 dominant beta-thalassemia skos:exactMatch UMLS:C1858990 semapv:UnspecifiedMatching MONDO:0011381 dominant beta-thalassemia skos:exactMatch mesh:C565834 semapv:UnspecifiedMatching MONDO:0011382 sickle cell disease skos:exactMatch DOID:0081445 sickle cell disease semapv:UnspecifiedMatching MONDO:0011382 sickle cell disease skos:exactMatch DOID:10923 sickle cell anemia semapv:UnspecifiedMatching MONDO:0011382 sickle cell disease skos:exactMatch ICD10CM:D57.2 Sickle-cell/Hb-C disease semapv:UnspecifiedMatching MONDO:0011382 sickle cell disease skos:exactMatch MEDGEN:287 semapv:UnspecifiedMatching MONDO:0011382 sickle cell disease skos:exactMatch NCIT:C34383 Sickle Cell Disease semapv:UnspecifiedMatching MONDO:0011382 sickle cell disease skos:exactMatch OMIM:603903 sickle cell disease semapv:UnspecifiedMatching MONDO:0011382 sickle cell disease skos:exactMatch Orphanet:232 Sickle cell anemia semapv:UnspecifiedMatching MONDO:0011382 sickle cell disease skos:exactMatch UMLS:C0002895 semapv:UnspecifiedMatching MONDO:0011382 sickle cell disease skos:exactMatch mesh:D000755 semapv:UnspecifiedMatching MONDO:0011383 autoimmune lymphoproliferative syndrome type 2A skos:exactMatch DOID:0110115 autoimmune lymphoproliferative syndrome type 2A semapv:UnspecifiedMatching MONDO:0011383 autoimmune lymphoproliferative syndrome type 2A skos:exactMatch MEDGEN:349065 semapv:UnspecifiedMatching MONDO:0011383 autoimmune lymphoproliferative syndrome type 2A skos:exactMatch NCIT:C39576 Autoimmune Lymphoproliferative Syndrome with Germline CASP10 Mutation semapv:UnspecifiedMatching MONDO:0011383 autoimmune lymphoproliferative syndrome type 2A skos:exactMatch OMIM:603909 autoimmune lymphoproliferative syndrome, type 2a semapv:UnspecifiedMatching MONDO:0011383 autoimmune lymphoproliferative syndrome type 2A skos:exactMatch UMLS:C1858968 semapv:UnspecifiedMatching MONDO:0011383 autoimmune lymphoproliferative syndrome type 2A skos:exactMatch mesh:C565833 semapv:UnspecifiedMatching MONDO:0011384 hypertension, essential, susceptibility to, 1 skos:exactMatch MEDGEN:395143 semapv:UnspecifiedMatching MONDO:0011384 hypertension, essential, susceptibility to, 1 skos:exactMatch OMIM:603918 hypertension, essential, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0011384 hypertension, essential, susceptibility to, 1 skos:exactMatch UMLS:C1858967 semapv:UnspecifiedMatching MONDO:0011385 intervertebral disk degenerative disorder skos:exactMatch DOID:90 degenerative disc disease semapv:UnspecifiedMatching MONDO:0011385 intervertebral disk degenerative disorder skos:exactMatch EFO:0004994 semapv:UnspecifiedMatching MONDO:0011385 intervertebral disk degenerative disorder skos:exactMatch MEDGEN:102357 semapv:UnspecifiedMatching MONDO:0011385 intervertebral disk degenerative disorder skos:exactMatch NCIT:C26983 Intervertebral Disc Degenerative Disorder semapv:UnspecifiedMatching MONDO:0011385 intervertebral disk degenerative disorder skos:exactMatch OMIM:603932 intervertebral disc disease semapv:UnspecifiedMatching MONDO:0011385 intervertebral disk degenerative disorder skos:exactMatch SCTID:77547008 semapv:UnspecifiedMatching MONDO:0011385 intervertebral disk degenerative disorder skos:exactMatch UMLS:C0158266 semapv:UnspecifiedMatching MONDO:0011385 intervertebral disk degenerative disorder skos:exactMatch mesh:D055959 semapv:UnspecifiedMatching MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 skos:exactMatch MEDGEN:382957 semapv:UnspecifiedMatching MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 skos:exactMatch OMIM:603933 microvascular complications of diabetes, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 skos:exactMatch UMLS:C2676832 semapv:UnspecifiedMatching MONDO:0011387 psoriasis 4, susceptibility to skos:exactMatch DOID:0111280 psoriasis 4 semapv:UnspecifiedMatching MONDO:0011387 psoriasis 4, susceptibility to skos:exactMatch MEDGEN:347765 semapv:UnspecifiedMatching MONDO:0011387 psoriasis 4, susceptibility to skos:exactMatch OMIM:603935 psoriasis 4, susceptibility to semapv:UnspecifiedMatching MONDO:0011387 psoriasis 4, susceptibility to skos:exactMatch UMLS:C1858958 semapv:UnspecifiedMatching MONDO:0011389 autosomal dominant nonsyndromic hearing loss 16 skos:exactMatch DOID:0110547 autosomal dominant nonsyndromic deafness 16 semapv:UnspecifiedMatching MONDO:0011389 autosomal dominant nonsyndromic hearing loss 16 skos:exactMatch MEDGEN:349054 semapv:UnspecifiedMatching MONDO:0011389 autosomal dominant nonsyndromic hearing loss 16 skos:exactMatch OMIM:603964 deafness, autosomal dominant 16 semapv:UnspecifiedMatching MONDO:0011389 autosomal dominant nonsyndromic hearing loss 16 skos:exactMatch UMLS:C1858916 semapv:UnspecifiedMatching MONDO:0011389 autosomal dominant nonsyndromic hearing loss 16 skos:exactMatch mesh:C565832 semapv:UnspecifiedMatching MONDO:0011390 focal segmental glomerulosclerosis 2 skos:exactMatch DOID:0111129 focal segmental glomerulosclerosis 2 semapv:UnspecifiedMatching MONDO:0011390 focal segmental glomerulosclerosis 2 skos:exactMatch MEDGEN:349053 semapv:UnspecifiedMatching MONDO:0011390 focal segmental glomerulosclerosis 2 skos:exactMatch OMIM:603965 focal segmental glomerulosclerosis 2 semapv:UnspecifiedMatching MONDO:0011390 focal segmental glomerulosclerosis 2 skos:exactMatch UMLS:C1858915 semapv:UnspecifiedMatching MONDO:0011390 focal segmental glomerulosclerosis 2 skos:exactMatch mesh:C565831 semapv:UnspecifiedMatching MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts skos:exactMatch DOID:0080315 megalencephalic leukoencephalopathy with subcortical cysts semapv:UnspecifiedMatching MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts skos:exactMatch MEDGEN:347006 semapv:UnspecifiedMatching MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts skos:exactMatch Orphanet:2478 Megalencephalic leukoencephalopathy with subcortical cysts semapv:UnspecifiedMatching MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts skos:exactMatch SCTID:703536004 semapv:UnspecifiedMatching MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts skos:exactMatch UMLS:C1858854 semapv:UnspecifiedMatching MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts skos:exactMatch mesh:C536141 semapv:UnspecifiedMatching MONDO:0011392 autosomal recessive nonsyndromic hearing loss 20 skos:exactMatch DOID:0110478 autosomal recessive nonsyndromic deafness 20 semapv:UnspecifiedMatching MONDO:0011392 autosomal recessive nonsyndromic hearing loss 20 skos:exactMatch MEDGEN:347005 semapv:UnspecifiedMatching MONDO:0011392 autosomal recessive nonsyndromic hearing loss 20 skos:exactMatch OMIM:604060 deafness, autosomal recessive 20 semapv:UnspecifiedMatching MONDO:0011392 autosomal recessive nonsyndromic hearing loss 20 skos:exactMatch UMLS:C1858840 semapv:UnspecifiedMatching MONDO:0011392 autosomal recessive nonsyndromic hearing loss 20 skos:exactMatch mesh:C565828 semapv:UnspecifiedMatching MONDO:0011393 hypoalphalipoproteinemia, primary, 1 skos:exactMatch DOID:0080957 primary hypoalphalipoproteinemia 1 semapv:UnspecifiedMatching MONDO:0011393 hypoalphalipoproteinemia, primary, 1 skos:exactMatch MEDGEN:1684828 semapv:UnspecifiedMatching MONDO:0011393 hypoalphalipoproteinemia, primary, 1 skos:exactMatch OMIM:604091 hypoalphalipoproteinemia, primary, 1 semapv:UnspecifiedMatching MONDO:0011393 hypoalphalipoproteinemia, primary, 1 skos:exactMatch UMLS:C5231558 semapv:UnspecifiedMatching MONDO:0011395 cone-rod dystrophy 3 skos:exactMatch DOID:0111013 cone-rod dystrophy 3 semapv:UnspecifiedMatching MONDO:0011395 cone-rod dystrophy 3 skos:exactMatch MEDGEN:349030 semapv:UnspecifiedMatching MONDO:0011395 cone-rod dystrophy 3 skos:exactMatch OMIM:604116 cone-rod dystrophy 3 semapv:UnspecifiedMatching MONDO:0011395 cone-rod dystrophy 3 skos:exactMatch UMLS:C1858806 semapv:UnspecifiedMatching MONDO:0011395 cone-rod dystrophy 3 skos:exactMatch mesh:C565827 semapv:UnspecifiedMatching MONDO:0011396 loricrin keratoderma skos:exactMatch MEDGEN:395099 semapv:UnspecifiedMatching MONDO:0011396 loricrin keratoderma skos:exactMatch OMIM:604117 vohwinkel syndrome, variant form semapv:UnspecifiedMatching MONDO:0011396 loricrin keratoderma skos:exactMatch Orphanet:79395 Keratoderma hereditarium mutilans with ichthyosis semapv:UnspecifiedMatching MONDO:0011396 loricrin keratoderma skos:exactMatch SCTID:717183001 semapv:UnspecifiedMatching MONDO:0011396 loricrin keratoderma skos:exactMatch UMLS:C1858805 semapv:UnspecifiedMatching MONDO:0011396 loricrin keratoderma skos:exactMatch mesh:C565826 semapv:UnspecifiedMatching MONDO:0011397 autosomal dominant cerebellar ataxia, deafness and narcolepsy skos:exactMatch DOID:0050968 autosomal dominant cerebellar ataxia, deafness and narcolepsy semapv:UnspecifiedMatching MONDO:0011397 autosomal dominant cerebellar ataxia, deafness and narcolepsy skos:exactMatch MEDGEN:928337 semapv:UnspecifiedMatching MONDO:0011397 autosomal dominant cerebellar ataxia, deafness and narcolepsy skos:exactMatch OMIM:604121 cerebellar ataxia, deafness, and narcolepsy, autosomal dominant semapv:UnspecifiedMatching MONDO:0011397 autosomal dominant cerebellar ataxia, deafness and narcolepsy skos:exactMatch Orphanet:314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome semapv:UnspecifiedMatching MONDO:0011397 autosomal dominant cerebellar ataxia, deafness and narcolepsy skos:exactMatch UMLS:C4302668 semapv:UnspecifiedMatching MONDO:0011398 dystrophic epidermolysis bullosa pruriginosa skos:exactMatch MEDGEN:266151 semapv:UnspecifiedMatching MONDO:0011398 dystrophic epidermolysis bullosa pruriginosa skos:exactMatch OMIM:604129 epidermolysis bullosa pruriginosa semapv:UnspecifiedMatching MONDO:0011398 dystrophic epidermolysis bullosa pruriginosa skos:exactMatch Orphanet:89843 Dystrophic epidermolysis bullosa pruriginosa semapv:UnspecifiedMatching MONDO:0011398 dystrophic epidermolysis bullosa pruriginosa skos:exactMatch SCTID:403810008 semapv:UnspecifiedMatching MONDO:0011398 dystrophic epidermolysis bullosa pruriginosa skos:exactMatch UMLS:C1275114 semapv:UnspecifiedMatching MONDO:0011398 dystrophic epidermolysis bullosa pruriginosa skos:exactMatch mesh:C563192 semapv:UnspecifiedMatching MONDO:0011399 alpha thalassemia spectrum skos:exactMatch DOID:1099 alpha thalassemia semapv:UnspecifiedMatching MONDO:0011399 alpha thalassemia spectrum skos:exactMatch ICD10CM:D56.0 Alpha thalassemia semapv:UnspecifiedMatching MONDO:0011399 alpha thalassemia spectrum skos:exactMatch MEDGEN:1434 semapv:UnspecifiedMatching MONDO:0011399 alpha thalassemia spectrum skos:exactMatch NCIT:C34368 Alpha Thalassemia semapv:UnspecifiedMatching MONDO:0011399 alpha thalassemia spectrum skos:exactMatch OMIM:604131 alpha-thalassemia semapv:UnspecifiedMatching MONDO:0011399 alpha thalassemia spectrum skos:exactMatch Orphanet:846 Alpha-thalassemia semapv:UnspecifiedMatching MONDO:0011399 alpha thalassemia spectrum skos:exactMatch SCTID:68913001 semapv:UnspecifiedMatching MONDO:0011399 alpha thalassemia spectrum skos:exactMatch UMLS:C0002312 semapv:UnspecifiedMatching MONDO:0011399 alpha thalassemia spectrum skos:exactMatch icd11.foundation:531667506 Alpha thalassaemia semapv:UnspecifiedMatching MONDO:0011399 alpha thalassemia spectrum skos:exactMatch mesh:D017085 semapv:UnspecifiedMatching MONDO:0011400 dilated cardiomyopathy 1G skos:exactMatch DOID:0110430 dilated cardiomyopathy 1G semapv:UnspecifiedMatching MONDO:0011400 dilated cardiomyopathy 1G skos:exactMatch MEDGEN:347714 semapv:UnspecifiedMatching MONDO:0011400 dilated cardiomyopathy 1G skos:exactMatch OMIM:604145 cardiomyopathy, dilated, 1g semapv:UnspecifiedMatching MONDO:0011400 dilated cardiomyopathy 1G skos:exactMatch UMLS:C1858763 semapv:UnspecifiedMatching MONDO:0011400 dilated cardiomyopathy 1G skos:exactMatch mesh:C565824 semapv:UnspecifiedMatching MONDO:0011401 Alzheimer disease without neurofibrillary tangles skos:exactMatch DOID:0110048 Alzheimer's disease 15 semapv:UnspecifiedMatching MONDO:0011401 Alzheimer disease without neurofibrillary tangles skos:exactMatch MEDGEN:346983 semapv:UnspecifiedMatching MONDO:0011401 Alzheimer disease without neurofibrillary tangles skos:exactMatch OMIM:604154 alzheimer disease 15 semapv:UnspecifiedMatching MONDO:0011401 Alzheimer disease without neurofibrillary tangles skos:exactMatch UMLS:C1858751 semapv:UnspecifiedMatching MONDO:0011401 Alzheimer disease without neurofibrillary tangles skos:exactMatch mesh:C536599 semapv:UnspecifiedMatching MONDO:0011401 Alzheimer disease without neurofibrillary tangles skos:exactMatch mesh:C566998 semapv:UnspecifiedMatching MONDO:0011402 congenital cataracts-facial dysmorphism-neuropathy syndrome skos:exactMatch MEDGEN:346973 semapv:UnspecifiedMatching MONDO:0011402 congenital cataracts-facial dysmorphism-neuropathy syndrome skos:exactMatch OMIM:604168 congenital cataracts, facial dysmorphism, and neuropathy semapv:UnspecifiedMatching MONDO:0011402 congenital cataracts-facial dysmorphism-neuropathy syndrome skos:exactMatch Orphanet:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome semapv:UnspecifiedMatching MONDO:0011402 congenital cataracts-facial dysmorphism-neuropathy syndrome skos:exactMatch SCTID:702433001 semapv:UnspecifiedMatching MONDO:0011402 congenital cataracts-facial dysmorphism-neuropathy syndrome skos:exactMatch UMLS:C1858726 semapv:UnspecifiedMatching MONDO:0011402 congenital cataracts-facial dysmorphism-neuropathy syndrome skos:exactMatch mesh:C565822 semapv:UnspecifiedMatching MONDO:0011403 left ventricular noncompaction 1 skos:exactMatch MEDGEN:349005 semapv:UnspecifiedMatching MONDO:0011403 left ventricular noncompaction 1 skos:exactMatch OMIM:604169 left ventricular noncompaction 1 semapv:UnspecifiedMatching MONDO:0011403 left ventricular noncompaction 1 skos:exactMatch UMLS:C1858725 semapv:UnspecifiedMatching MONDO:0011404 Caronte skos:exactMatch MEDGEN:349004 semapv:UnspecifiedMatching MONDO:0011404 Caronte skos:exactMatch OMIM:604172 caronte semapv:UnspecifiedMatching MONDO:0011404 Caronte skos:exactMatch UMLS:C1858724 semapv:UnspecifiedMatching MONDO:0011405 poikiloderma with neutropenia skos:exactMatch DOID:0060551 poikiloderma with neutropenia semapv:UnspecifiedMatching MONDO:0011405 poikiloderma with neutropenia skos:exactMatch MEDGEN:388129 semapv:UnspecifiedMatching MONDO:0011405 poikiloderma with neutropenia skos:exactMatch NCIT:C177535 Poikiloderma with Neutropenia semapv:UnspecifiedMatching MONDO:0011405 poikiloderma with neutropenia skos:exactMatch OMIM:604173 poikiloderma with neutropenia semapv:UnspecifiedMatching MONDO:0011405 poikiloderma with neutropenia skos:exactMatch Orphanet:221046 Poikiloderma with neutropenia semapv:UnspecifiedMatching MONDO:0011405 poikiloderma with neutropenia skos:exactMatch UMLS:C1858723 semapv:UnspecifiedMatching MONDO:0011406 cholesteatoma, congenital skos:exactMatch MEDGEN:95999 semapv:UnspecifiedMatching MONDO:0011406 cholesteatoma, congenital skos:exactMatch OMIM:604183 cholesteatoma, congenital semapv:UnspecifiedMatching MONDO:0011406 cholesteatoma, congenital skos:exactMatch SCTID:232262007 semapv:UnspecifiedMatching MONDO:0011406 cholesteatoma, congenital skos:exactMatch UMLS:C0395886 semapv:UnspecifiedMatching MONDO:0011406 cholesteatoma, congenital skos:exactMatch mesh:C562858 semapv:UnspecifiedMatching MONDO:0011407 facial paresis, hereditary congenital, 2 skos:exactMatch MEDGEN:346971 semapv:UnspecifiedMatching MONDO:0011407 facial paresis, hereditary congenital, 2 skos:exactMatch OMIM:604185 facial paresis, hereditary congenital, 2 semapv:UnspecifiedMatching MONDO:0011407 facial paresis, hereditary congenital, 2 skos:exactMatch UMLS:C1858717 semapv:UnspecifiedMatching MONDO:0011408 hereditary spastic paraplegia 10 skos:exactMatch DOID:0110763 hereditary spastic paraplegia 10 semapv:UnspecifiedMatching MONDO:0011408 hereditary spastic paraplegia 10 skos:exactMatch MEDGEN:349003 semapv:UnspecifiedMatching MONDO:0011408 hereditary spastic paraplegia 10 skos:exactMatch OMIM:604187 spastic paraplegia 10, autosomal dominant semapv:UnspecifiedMatching MONDO:0011408 hereditary spastic paraplegia 10 skos:exactMatch Orphanet:100991 Autosomal dominant spastic paraplegia type 10 semapv:UnspecifiedMatching MONDO:0011408 hereditary spastic paraplegia 10 skos:exactMatch SCTID:732948003 semapv:UnspecifiedMatching MONDO:0011408 hereditary spastic paraplegia 10 skos:exactMatch UMLS:C1858712 semapv:UnspecifiedMatching MONDO:0011408 hereditary spastic paraplegia 10 skos:exactMatch mesh:C537482 semapv:UnspecifiedMatching MONDO:0011409 hepatic fibrosis, severe, susceptibility to, due to Schistosoma mansoni infection skos:exactMatch MEDGEN:349002 semapv:UnspecifiedMatching MONDO:0011409 hepatic fibrosis, severe, susceptibility to, due to Schistosoma mansoni infection skos:exactMatch OMIM:604201 hepatic fibrosis, severe, susceptibility to, due to schistosoma mansoni infection semapv:UnspecifiedMatching MONDO:0011409 hepatic fibrosis, severe, susceptibility to, due to Schistosoma mansoni infection skos:exactMatch UMLS:C1858709 semapv:UnspecifiedMatching MONDO:0011410 Hirschsprung disease with heart defects, laryngeal anomalies, and preaxial polydactyly skos:exactMatch MEDGEN:388123 semapv:UnspecifiedMatching MONDO:0011410 Hirschsprung disease with heart defects, laryngeal anomalies, and preaxial polydactyly skos:exactMatch OMIM:604211 hirschsprung disease with heart defects, laryngeal anomalies, and preaxial polydactyly semapv:UnspecifiedMatching MONDO:0011410 Hirschsprung disease with heart defects, laryngeal anomalies, and preaxial polydactyly skos:exactMatch UMLS:C1858696 semapv:UnspecifiedMatching MONDO:0011410 Hirschsprung disease with heart defects, laryngeal anomalies, and preaxial polydactyly skos:exactMatch mesh:C565817 semapv:UnspecifiedMatching MONDO:0011411 Chudley-McCullough syndrome skos:exactMatch MEDGEN:347699 semapv:UnspecifiedMatching MONDO:0011411 Chudley-McCullough syndrome skos:exactMatch OMIM:604213 chudley-mccullough syndrome semapv:UnspecifiedMatching MONDO:0011411 Chudley-McCullough syndrome skos:exactMatch Orphanet:314597 Chudley-McCullough syndrome semapv:UnspecifiedMatching MONDO:0011411 Chudley-McCullough syndrome skos:exactMatch UMLS:C1858695 semapv:UnspecifiedMatching MONDO:0011411 Chudley-McCullough syndrome skos:exactMatch mesh:C535459 semapv:UnspecifiedMatching MONDO:0011412 familial encephalopathy with neuroserpin inclusion bodies skos:exactMatch DOID:0050831 familial encephalopathy with neuroserpin inclusion bodies semapv:UnspecifiedMatching MONDO:0011412 familial encephalopathy with neuroserpin inclusion bodies skos:exactMatch MEDGEN:346965 semapv:UnspecifiedMatching MONDO:0011412 familial encephalopathy with neuroserpin inclusion bodies skos:exactMatch OMIM:604218 encephalopathy, familial, with neuroserpin inclusion bodies semapv:UnspecifiedMatching MONDO:0011412 familial encephalopathy with neuroserpin inclusion bodies skos:exactMatch Orphanet:85110 Familial encephalopathy with neuroserpin inclusion bodies semapv:UnspecifiedMatching MONDO:0011412 familial encephalopathy with neuroserpin inclusion bodies skos:exactMatch SCTID:702421006 semapv:UnspecifiedMatching MONDO:0011412 familial encephalopathy with neuroserpin inclusion bodies skos:exactMatch UMLS:C1858680 semapv:UnspecifiedMatching MONDO:0011412 familial encephalopathy with neuroserpin inclusion bodies skos:exactMatch icd11.foundation:453919434 Familial encephalopathy with neuroserpin inclusion bodies semapv:UnspecifiedMatching MONDO:0011412 familial encephalopathy with neuroserpin inclusion bodies skos:exactMatch mesh:C536841 semapv:UnspecifiedMatching MONDO:0011413 cataract 9 multiple types skos:exactMatch DOID:0110266 cataract 9 multiple types semapv:UnspecifiedMatching MONDO:0011413 cataract 9 multiple types skos:exactMatch MEDGEN:347693 semapv:UnspecifiedMatching MONDO:0011413 cataract 9 multiple types skos:exactMatch OMIM:604219 cataract 9, multiple types semapv:UnspecifiedMatching MONDO:0011413 cataract 9 multiple types skos:exactMatch UMLS:C1858679 semapv:UnspecifiedMatching MONDO:0011414 Peters anomaly skos:exactMatch DOID:0060673 Peters anomaly semapv:UnspecifiedMatching MONDO:0011414 Peters anomaly skos:exactMatch DOID:0080610 anterior segment dysgenesis 5 semapv:UnspecifiedMatching MONDO:0011414 Peters anomaly skos:exactMatch MEDGEN:91031 semapv:UnspecifiedMatching MONDO:0011414 Peters anomaly skos:exactMatch OMIM:604229 anterior segment dysgenesis 5 semapv:UnspecifiedMatching MONDO:0011414 Peters anomaly skos:exactMatch Orphanet:708 Peters anomaly semapv:UnspecifiedMatching MONDO:0011414 Peters anomaly skos:exactMatch SCTID:204153003 semapv:UnspecifiedMatching MONDO:0011414 Peters anomaly skos:exactMatch UMLS:C0344559 semapv:UnspecifiedMatching MONDO:0011414 Peters anomaly skos:exactMatch icd11.foundation:1902926622 Peters anomaly semapv:UnspecifiedMatching MONDO:0011414 Peters anomaly skos:exactMatch mesh:C537884 semapv:UnspecifiedMatching MONDO:0011415 Leber congenital amaurosis 3 skos:exactMatch DOID:0110331 Leber congenital amaurosis 3 semapv:UnspecifiedMatching MONDO:0011415 Leber congenital amaurosis 3 skos:exactMatch MEDGEN:346964 semapv:UnspecifiedMatching MONDO:0011415 Leber congenital amaurosis 3 skos:exactMatch OMIM:604232 leber congenital amaurosis 3 semapv:UnspecifiedMatching MONDO:0011415 Leber congenital amaurosis 3 skos:exactMatch UMLS:C1858677 semapv:UnspecifiedMatching MONDO:0011415 Leber congenital amaurosis 3 skos:exactMatch mesh:C565814 semapv:UnspecifiedMatching MONDO:0011416 generalized epilepsy with febrile seizures plus, type 1 skos:exactMatch DOID:0111302 generalized epilepsy with febrile seizures plus 1 semapv:UnspecifiedMatching MONDO:0011416 generalized epilepsy with febrile seizures plus, type 1 skos:exactMatch MEDGEN:348994 semapv:UnspecifiedMatching MONDO:0011416 generalized epilepsy with febrile seizures plus, type 1 skos:exactMatch OMIM:604233 generalized epilepsy with febrile seizures plus, type 1 semapv:UnspecifiedMatching MONDO:0011416 generalized epilepsy with febrile seizures plus, type 1 skos:exactMatch UMLS:C1858672 semapv:UnspecifiedMatching MONDO:0011416 generalized epilepsy with febrile seizures plus, type 1 skos:exactMatch mesh:C565809 semapv:UnspecifiedMatching MONDO:0011417 hemochromatosis type 3 skos:exactMatch DOID:0111030 hemochromatosis type 3 semapv:UnspecifiedMatching MONDO:0011417 hemochromatosis type 3 skos:exactMatch MEDGEN:388114 semapv:UnspecifiedMatching MONDO:0011417 hemochromatosis type 3 skos:exactMatch OMIM:604250 hemochromatosis, type 3 semapv:UnspecifiedMatching MONDO:0011417 hemochromatosis type 3 skos:exactMatch Orphanet:225123 TFR2-related hemochromatosis semapv:UnspecifiedMatching MONDO:0011417 hemochromatosis type 3 skos:exactMatch SCTID:719974003 semapv:UnspecifiedMatching MONDO:0011417 hemochromatosis type 3 skos:exactMatch UMLS:C1858664 semapv:UnspecifiedMatching MONDO:0011417 hemochromatosis type 3 skos:exactMatch mesh:C537248 semapv:UnspecifiedMatching MONDO:0011418 dyslexia, susceptibility to, 3 skos:exactMatch MEDGEN:388113 semapv:UnspecifiedMatching MONDO:0011418 dyslexia, susceptibility to, 3 skos:exactMatch OMIM:604254 dyslexia, susceptibility to, 3 semapv:UnspecifiedMatching MONDO:0011418 dyslexia, susceptibility to, 3 skos:exactMatch UMLS:C1858662 semapv:UnspecifiedMatching MONDO:0011419 camera-Marugo-Cohen syndrome skos:exactMatch MEDGEN:347689 semapv:UnspecifiedMatching MONDO:0011419 camera-Marugo-Cohen syndrome skos:exactMatch OMIM:604257 camera-marugo-cohen syndrome semapv:UnspecifiedMatching MONDO:0011419 camera-Marugo-Cohen syndrome skos:exactMatch UMLS:C1858661 semapv:UnspecifiedMatching MONDO:0011419 camera-Marugo-Cohen syndrome skos:exactMatch mesh:C537964 semapv:UnspecifiedMatching MONDO:0011420 short stature due to partial GHR deficiency skos:exactMatch MEDGEN:346958 semapv:UnspecifiedMatching MONDO:0011420 short stature due to partial GHR deficiency skos:exactMatch OMIM:604271 growth hormone insensitivity, partial semapv:UnspecifiedMatching MONDO:0011420 short stature due to partial GHR deficiency skos:exactMatch Orphanet:314802 Short stature due to partial GHR deficiency semapv:UnspecifiedMatching MONDO:0011420 short stature due to partial GHR deficiency skos:exactMatch UMLS:C1858656 semapv:UnspecifiedMatching MONDO:0011420 short stature due to partial GHR deficiency skos:exactMatch mesh:C565805 semapv:UnspecifiedMatching MONDO:0011421 mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 skos:exactMatch DOID:0050768 mitochondrial complex V (ATP synthase) deficiency nuclear type 1 semapv:UnspecifiedMatching MONDO:0011421 mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 skos:exactMatch MEDGEN:477906 semapv:UnspecifiedMatching MONDO:0011421 mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 skos:exactMatch OMIM:604273 mitochondrial complex 5 (atp synthase) deficiency, nuclear type 1 semapv:UnspecifiedMatching MONDO:0011421 mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 skos:exactMatch UMLS:C3276276 semapv:UnspecifiedMatching MONDO:0011422 autosomal recessive proximal renal tubular acidosis skos:exactMatch DOID:0061167 autosomal recessive proximal renal tubular acidosis semapv:UnspecifiedMatching MONDO:0011422 autosomal recessive proximal renal tubular acidosis skos:exactMatch MEDGEN:370883 semapv:UnspecifiedMatching MONDO:0011422 autosomal recessive proximal renal tubular acidosis skos:exactMatch OMIM:604278 proximal renal tubular acidosis-ocular anomaly syndrome semapv:UnspecifiedMatching MONDO:0011422 autosomal recessive proximal renal tubular acidosis skos:exactMatch Orphanet:93607 Autosomal recessive proximal renal tubular acidosis semapv:UnspecifiedMatching MONDO:0011422 autosomal recessive proximal renal tubular acidosis skos:exactMatch UMLS:C1970309 semapv:UnspecifiedMatching MONDO:0011422 autosomal recessive proximal renal tubular acidosis skos:exactMatch mesh:C567038 semapv:UnspecifiedMatching MONDO:0011423 autosomal recessive limb-girdle muscular dystrophy type 2E skos:exactMatch DOID:0110279 autosomal recessive limb-girdle muscular dystrophy type 2E semapv:UnspecifiedMatching MONDO:0011423 autosomal recessive limb-girdle muscular dystrophy type 2E skos:exactMatch MEDGEN:347674 semapv:UnspecifiedMatching MONDO:0011423 autosomal recessive limb-girdle muscular dystrophy type 2E skos:exactMatch OMIM:604286 muscular dystrophy, limb-girdle, autosomal recessive 4 semapv:UnspecifiedMatching MONDO:0011423 autosomal recessive limb-girdle muscular dystrophy type 2E skos:exactMatch Orphanet:119 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 semapv:UnspecifiedMatching MONDO:0011423 autosomal recessive limb-girdle muscular dystrophy type 2E skos:exactMatch SCTID:718850008 semapv:UnspecifiedMatching MONDO:0011423 autosomal recessive limb-girdle muscular dystrophy type 2E skos:exactMatch UMLS:C1858593 semapv:UnspecifiedMatching MONDO:0011424 Carney triad skos:exactMatch MEDGEN:388099 semapv:UnspecifiedMatching MONDO:0011424 Carney triad skos:exactMatch NCIT:C94833 Carney Triad semapv:UnspecifiedMatching MONDO:0011424 Carney triad skos:exactMatch OMIM:604287 carney triad semapv:UnspecifiedMatching MONDO:0011424 Carney triad skos:exactMatch Orphanet:139411 Carney triad semapv:UnspecifiedMatching MONDO:0011424 Carney triad skos:exactMatch SCTID:733492003 semapv:UnspecifiedMatching MONDO:0011424 Carney triad skos:exactMatch UMLS:C1858592 semapv:UnspecifiedMatching MONDO:0011424 Carney triad skos:exactMatch icd11.foundation:1771169701 Carney triad semapv:UnspecifiedMatching MONDO:0011424 Carney triad skos:exactMatch mesh:C565803 semapv:UnspecifiedMatching MONDO:0011425 dilated cardiomyopathy 1H skos:exactMatch DOID:0110429 dilated cardiomyopathy 1H semapv:UnspecifiedMatching MONDO:0011425 dilated cardiomyopathy 1H skos:exactMatch MEDGEN:348980 semapv:UnspecifiedMatching MONDO:0011425 dilated cardiomyopathy 1H skos:exactMatch OMIM:604288 cardiomyopathy, dilated, 1h semapv:UnspecifiedMatching MONDO:0011425 dilated cardiomyopathy 1H skos:exactMatch UMLS:C1858591 semapv:UnspecifiedMatching MONDO:0011425 dilated cardiomyopathy 1H skos:exactMatch mesh:C536277 semapv:UnspecifiedMatching MONDO:0011426 aceruloplasminemia skos:exactMatch DOID:0050711 aceruloplasminemia semapv:UnspecifiedMatching MONDO:0011426 aceruloplasminemia skos:exactMatch MEDGEN:168057 semapv:UnspecifiedMatching MONDO:0011426 aceruloplasminemia skos:exactMatch OMIM:604290 aceruloplasminemia semapv:UnspecifiedMatching MONDO:0011426 aceruloplasminemia skos:exactMatch Orphanet:48818 Aceruloplasminemia semapv:UnspecifiedMatching MONDO:0011426 aceruloplasminemia skos:exactMatch SCTID:124224004 semapv:UnspecifiedMatching MONDO:0011426 aceruloplasminemia skos:exactMatch UMLS:C0878682 semapv:UnspecifiedMatching MONDO:0011427 Ascaris lumbricoides infection, susceptibility to skos:exactMatch MEDGEN:347671 semapv:UnspecifiedMatching MONDO:0011427 Ascaris lumbricoides infection, susceptibility to skos:exactMatch OMIM:604291 ascaris lumbricoides infection, susceptibility to semapv:UnspecifiedMatching MONDO:0011427 Ascaris lumbricoides infection, susceptibility to skos:exactMatch UMLS:C1858580 semapv:UnspecifiedMatching MONDO:0011428 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 skos:exactMatch DOID:0060783 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 semapv:UnspecifiedMatching MONDO:0011428 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 skos:exactMatch MEDGEN:347666 semapv:UnspecifiedMatching MONDO:0011428 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 skos:exactMatch OMIM:604292 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 semapv:UnspecifiedMatching MONDO:0011428 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 skos:exactMatch UMLS:C1858562 semapv:UnspecifiedMatching MONDO:0011428 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 skos:exactMatch mesh:C565799 semapv:UnspecifiedMatching MONDO:0011429 juvenile idiopathic arthritis skos:exactMatch DOID:676 systemic juvenile rheumatoid arthritis semapv:UnspecifiedMatching MONDO:0011429 juvenile idiopathic arthritis skos:exactMatch EFO:0002609 semapv:UnspecifiedMatching MONDO:0011429 juvenile idiopathic arthritis skos:exactMatch MEDGEN:760659 semapv:UnspecifiedMatching MONDO:0011429 juvenile idiopathic arthritis skos:exactMatch NCIT:C114357 Juvenile Idiopathic Arthritis semapv:UnspecifiedMatching MONDO:0011429 juvenile idiopathic arthritis skos:exactMatch OMIM:604302 rheumatoid arthritis, systemic juvenile semapv:UnspecifiedMatching MONDO:0011429 juvenile idiopathic arthritis skos:exactMatch Orphanet:92 Juvenile idiopathic arthritis semapv:UnspecifiedMatching MONDO:0011429 juvenile idiopathic arthritis skos:exactMatch SCTID:410502007 semapv:UnspecifiedMatching MONDO:0011429 juvenile idiopathic arthritis skos:exactMatch UMLS:C3495559 semapv:UnspecifiedMatching MONDO:0011429 juvenile idiopathic arthritis skos:exactMatch icd11.foundation:1322678686 Juvenile idiopathic arthritis semapv:UnspecifiedMatching MONDO:0011429 juvenile idiopathic arthritis skos:exactMatch mesh:D001171 semapv:UnspecifiedMatching MONDO:0011430 pulverulent cataract skos:exactMatch MEDGEN:318793 semapv:UnspecifiedMatching MONDO:0011430 pulverulent cataract skos:exactMatch Orphanet:98984 Pulverulent cataract semapv:UnspecifiedMatching MONDO:0011430 pulverulent cataract skos:exactMatch UMLS:C1833118 semapv:UnspecifiedMatching MONDO:0011430 pulverulent cataract skos:exactMatch icd11.foundation:1046743385 Pulverulent cataract semapv:UnspecifiedMatching MONDO:0011430 pulverulent cataract skos:exactMatch mesh:C565133 semapv:UnspecifiedMatching MONDO:0011431 MASS syndrome skos:exactMatch MEDGEN:346932 semapv:UnspecifiedMatching MONDO:0011431 MASS syndrome skos:exactMatch OMIM:604308 mass syndrome semapv:UnspecifiedMatching MONDO:0011431 MASS syndrome skos:exactMatch UMLS:C1858556 semapv:UnspecifiedMatching MONDO:0011431 MASS syndrome skos:exactMatch mesh:C536030 semapv:UnspecifiedMatching MONDO:0011432 blepharophimosis - intellectual disability syndrome, Verloes type skos:exactMatch MEDGEN:347661 semapv:UnspecifiedMatching MONDO:0011432 blepharophimosis - intellectual disability syndrome, Verloes type skos:exactMatch OMIM:604314 blepharophimosis with facial and genital anomalies and impaired intellectual development semapv:UnspecifiedMatching MONDO:0011432 blepharophimosis - intellectual disability syndrome, Verloes type skos:exactMatch Orphanet:293725 Blepharophimosis-intellectual disability syndrome, Verloes type semapv:UnspecifiedMatching MONDO:0011432 blepharophimosis - intellectual disability syndrome, Verloes type skos:exactMatch UMLS:C1858538 semapv:UnspecifiedMatching MONDO:0011432 blepharophimosis - intellectual disability syndrome, Verloes type skos:exactMatch mesh:C565797 semapv:UnspecifiedMatching MONDO:0011433 anemia, congenital hypoplastic, with multiple congenital anomalies/intellectual disability syndrome skos:exactMatch MEDGEN:388087 semapv:UnspecifiedMatching MONDO:0011433 anemia, congenital hypoplastic, with multiple congenital anomalies/intellectual disability syndrome skos:exactMatch OMIM:604315 anemia, congenital hypoplastic, with multiple congenital anomalies/impaired intellectual development syndrome semapv:UnspecifiedMatching MONDO:0011433 anemia, congenital hypoplastic, with multiple congenital anomalies/intellectual disability syndrome skos:exactMatch UMLS:C1858537 semapv:UnspecifiedMatching MONDO:0011433 anemia, congenital hypoplastic, with multiple congenital anomalies/intellectual disability syndrome skos:exactMatch mesh:C565796 semapv:UnspecifiedMatching MONDO:0011434 psoriasis 5, susceptibility to skos:exactMatch DOID:0111282 psoriasis 5 semapv:UnspecifiedMatching MONDO:0011434 psoriasis 5, susceptibility to skos:exactMatch MEDGEN:347660 semapv:UnspecifiedMatching MONDO:0011434 psoriasis 5, susceptibility to skos:exactMatch OMIM:604316 psoriasis 5, susceptibility to semapv:UnspecifiedMatching MONDO:0011434 psoriasis 5, susceptibility to skos:exactMatch UMLS:C1858536 semapv:UnspecifiedMatching MONDO:0011435 microcephaly 2, primary, autosomal recessive, with or without cortical malformations skos:exactMatch DOID:0070293 primary autosomal recessive microcephaly 2 with or without cortical malformations semapv:UnspecifiedMatching MONDO:0011435 microcephaly 2, primary, autosomal recessive, with or without cortical malformations skos:exactMatch MEDGEN:346929 semapv:UnspecifiedMatching MONDO:0011435 microcephaly 2, primary, autosomal recessive, with or without cortical malformations skos:exactMatch OMIM:604317 microcephaly 2, primary, autosomal recessive, with or without cortical malformations semapv:UnspecifiedMatching MONDO:0011435 microcephaly 2, primary, autosomal recessive, with or without cortical malformations skos:exactMatch UMLS:C1858535 semapv:UnspecifiedMatching MONDO:0011435 microcephaly 2, primary, autosomal recessive, with or without cortical malformations skos:exactMatch mesh:C565794 semapv:UnspecifiedMatching MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 skos:exactMatch DOID:0111064 autosomal recessive distal hereditary motor neuronopathy 1 semapv:UnspecifiedMatching MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 skos:exactMatch MEDGEN:388083 semapv:UnspecifiedMatching MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 skos:exactMatch OMIM:604320 neuronopathy, distal hereditary motor, autosomal recessive 1 semapv:UnspecifiedMatching MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 skos:exactMatch Orphanet:98920 Spinal muscular atrophy with respiratory distress type 1 semapv:UnspecifiedMatching MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 skos:exactMatch SCTID:711483003 semapv:UnspecifiedMatching MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 skos:exactMatch UMLS:C1858517 semapv:UnspecifiedMatching MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 skos:exactMatch mesh:C536880 semapv:UnspecifiedMatching MONDO:0011437 microcephaly 4, primary, autosomal recessive skos:exactMatch DOID:0070291 primary autosomal recessive microcephaly 4 semapv:UnspecifiedMatching MONDO:0011437 microcephaly 4, primary, autosomal recessive skos:exactMatch MEDGEN:347655 semapv:UnspecifiedMatching MONDO:0011437 microcephaly 4, primary, autosomal recessive skos:exactMatch OMIM:604321 microcephaly 4, primary, autosomal recessive semapv:UnspecifiedMatching MONDO:0011437 microcephaly 4, primary, autosomal recessive skos:exactMatch UMLS:C1858516 semapv:UnspecifiedMatching MONDO:0011437 microcephaly 4, primary, autosomal recessive skos:exactMatch mesh:C565792 semapv:UnspecifiedMatching MONDO:0011438 acne skos:exactMatch DOID:6543 acne semapv:UnspecifiedMatching MONDO:0011438 acne skos:exactMatch EFO:0003894 semapv:UnspecifiedMatching MONDO:0011438 acne skos:exactMatch ICD10CM:L70 Acne semapv:UnspecifiedMatching MONDO:0011438 acne skos:exactMatch ICD10WHO:L70 Acne semapv:UnspecifiedMatching MONDO:0011438 acne skos:exactMatch MEDGEN:152379 semapv:UnspecifiedMatching MONDO:0011438 acne skos:exactMatch NCIT:C27195 Acne semapv:UnspecifiedMatching MONDO:0011438 acne skos:exactMatch UMLS:C0702166 semapv:UnspecifiedMatching MONDO:0011438 acne skos:exactMatch icd11.foundation:1892393023 Acne semapv:UnspecifiedMatching MONDO:0011439 spinocerebellar ataxia type 12 skos:exactMatch DOID:0050962 spinocerebellar ataxia 12 semapv:UnspecifiedMatching MONDO:0011439 spinocerebellar ataxia type 12 skos:exactMatch MEDGEN:347653 semapv:UnspecifiedMatching MONDO:0011439 spinocerebellar ataxia type 12 skos:exactMatch NCIT:C154316 Spinocerebellar Ataxia Type 12 semapv:UnspecifiedMatching MONDO:0011439 spinocerebellar ataxia type 12 skos:exactMatch OMIM:604326 spinocerebellar ataxia 12 semapv:UnspecifiedMatching MONDO:0011439 spinocerebellar ataxia type 12 skos:exactMatch Orphanet:98762 Spinocerebellar ataxia type 12 semapv:UnspecifiedMatching MONDO:0011439 spinocerebellar ataxia type 12 skos:exactMatch SCTID:719208005 semapv:UnspecifiedMatching MONDO:0011439 spinocerebellar ataxia type 12 skos:exactMatch UMLS:C1858501 semapv:UnspecifiedMatching MONDO:0011439 spinocerebellar ataxia type 12 skos:exactMatch icd11.foundation:1210063722 Spinocerebellar ataxia type 12 semapv:UnspecifiedMatching MONDO:0011439 spinocerebellar ataxia type 12 skos:exactMatch mesh:C565790 semapv:UnspecifiedMatching MONDO:0011440 hypertension, essential, susceptibility to, 2 skos:exactMatch MEDGEN:388076 semapv:UnspecifiedMatching MONDO:0011440 hypertension, essential, susceptibility to, 2 skos:exactMatch OMIM:604329 hypertension, essential, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0011440 hypertension, essential, susceptibility to, 2 skos:exactMatch UMLS:C1858497 semapv:UnspecifiedMatching MONDO:0011441 complex regional pain syndrome type 1 skos:exactMatch DOID:1811 reflex sympathetic dystrophy semapv:UnspecifiedMatching MONDO:0011441 complex regional pain syndrome type 1 skos:exactMatch EFO:1001147 semapv:UnspecifiedMatching MONDO:0011441 complex regional pain syndrome type 1 skos:exactMatch ICD10CM:G90.5 Complex regional pain syndrome I (CRPS I) semapv:UnspecifiedMatching MONDO:0011441 complex regional pain syndrome type 1 skos:exactMatch MEDGEN:11159 semapv:UnspecifiedMatching MONDO:0011441 complex regional pain syndrome type 1 skos:exactMatch NCIT:C85042 Complex Regional Pain Syndrome I semapv:UnspecifiedMatching MONDO:0011441 complex regional pain syndrome type 1 skos:exactMatch OMIM:604335 reflex sympathetic dystrophy semapv:UnspecifiedMatching MONDO:0011441 complex regional pain syndrome type 1 skos:exactMatch Orphanet:99995 Complex regional pain syndrome type 1 semapv:UnspecifiedMatching MONDO:0011441 complex regional pain syndrome type 1 skos:exactMatch SCTID:50642008 semapv:UnspecifiedMatching MONDO:0011441 complex regional pain syndrome type 1 skos:exactMatch UMLS:C0034931 semapv:UnspecifiedMatching MONDO:0011441 complex regional pain syndrome type 1 skos:exactMatch mesh:D012019 semapv:UnspecifiedMatching MONDO:0011442 advanced sleep phase syndrome 1 skos:exactMatch DOID:0110011 advanced sleep phase syndrome 1 semapv:UnspecifiedMatching MONDO:0011442 advanced sleep phase syndrome 1 skos:exactMatch MEDGEN:813657 semapv:UnspecifiedMatching MONDO:0011442 advanced sleep phase syndrome 1 skos:exactMatch OMIM:604348 advanced sleep phase syndrome, familial, 1 semapv:UnspecifiedMatching MONDO:0011442 advanced sleep phase syndrome 1 skos:exactMatch UMLS:C3807327 semapv:UnspecifiedMatching MONDO:0011443 febrile seizures, familial, 4 skos:exactMatch DOID:0111305 familial febrile seizures 4 semapv:UnspecifiedMatching MONDO:0011443 febrile seizures, familial, 4 skos:exactMatch MEDGEN:347652 semapv:UnspecifiedMatching MONDO:0011443 febrile seizures, familial, 4 skos:exactMatch OMIM:604352 febrile seizures, familial, 4 semapv:UnspecifiedMatching MONDO:0011443 febrile seizures, familial, 4 skos:exactMatch UMLS:C1858493 semapv:UnspecifiedMatching MONDO:0011443 febrile seizures, familial, 4 skos:exactMatch mesh:C565788 semapv:UnspecifiedMatching MONDO:0011444 Duane retraction syndrome 2 skos:exactMatch DOID:0061028 Duane retraction syndrome 2 semapv:UnspecifiedMatching MONDO:0011444 Duane retraction syndrome 2 skos:exactMatch MEDGEN:196721 semapv:UnspecifiedMatching MONDO:0011444 Duane retraction syndrome 2 skos:exactMatch OMIM:604356 duane retraction syndrome 2 semapv:UnspecifiedMatching MONDO:0011444 Duane retraction syndrome 2 skos:exactMatch SCTID:128083007 semapv:UnspecifiedMatching MONDO:0011444 Duane retraction syndrome 2 skos:exactMatch UMLS:C0751083 semapv:UnspecifiedMatching MONDO:0011445 hereditary spastic paraplegia 11 skos:exactMatch DOID:0110764 hereditary spastic paraplegia 11 semapv:UnspecifiedMatching MONDO:0011445 hereditary spastic paraplegia 11 skos:exactMatch MEDGEN:388073 semapv:UnspecifiedMatching MONDO:0011445 hereditary spastic paraplegia 11 skos:exactMatch NCIT:C148317 Spastic Paraplegia 11 semapv:UnspecifiedMatching MONDO:0011445 hereditary spastic paraplegia 11 skos:exactMatch OMIM:604360 spastic paraplegia 11, autosomal recessive semapv:UnspecifiedMatching MONDO:0011445 hereditary spastic paraplegia 11 skos:exactMatch Orphanet:2822 Autosomal recessive spastic paraplegia type 11 semapv:UnspecifiedMatching MONDO:0011445 hereditary spastic paraplegia 11 skos:exactMatch SCTID:715491000 semapv:UnspecifiedMatching MONDO:0011445 hereditary spastic paraplegia 11 skos:exactMatch UMLS:C1858479 semapv:UnspecifiedMatching MONDO:0011446 myoclonic epilepsy, congenital deafness, macular dystrophy, and psychiatric disorders skos:exactMatch MEDGEN:388072 semapv:UnspecifiedMatching MONDO:0011446 myoclonic epilepsy, congenital deafness, macular dystrophy, and psychiatric disorders skos:exactMatch OMIM:604363 myoclonic epilepsy, congenital deafness, macular dystrophy, and psychiatric disorders semapv:UnspecifiedMatching MONDO:0011446 myoclonic epilepsy, congenital deafness, macular dystrophy, and psychiatric disorders skos:exactMatch UMLS:C1858478 semapv:UnspecifiedMatching MONDO:0011446 myoclonic epilepsy, congenital deafness, macular dystrophy, and psychiatric disorders skos:exactMatch mesh:C565786 semapv:UnspecifiedMatching MONDO:0011448 PPARG-related familial partial lipodystrophy skos:exactMatch DOID:0070204 familial partial lipodystrophy type 3 semapv:UnspecifiedMatching MONDO:0011448 PPARG-related familial partial lipodystrophy skos:exactMatch MEDGEN:328393 semapv:UnspecifiedMatching MONDO:0011448 PPARG-related familial partial lipodystrophy skos:exactMatch OMIM:604367 lipodystrophy, familial partial, type 3 semapv:UnspecifiedMatching MONDO:0011448 PPARG-related familial partial lipodystrophy skos:exactMatch Orphanet:79083 PPARG-related familial partial lipodystrophy semapv:UnspecifiedMatching MONDO:0011448 PPARG-related familial partial lipodystrophy skos:exactMatch UMLS:C1720861 semapv:UnspecifiedMatching MONDO:0011449 Salla disease skos:exactMatch MEDGEN:203368 semapv:UnspecifiedMatching MONDO:0011449 Salla disease skos:exactMatch NCIT:C85067 Sialic Acid Storage Disease semapv:UnspecifiedMatching MONDO:0011449 Salla disease skos:exactMatch OMIM:604369 salla disease semapv:UnspecifiedMatching MONDO:0011449 Salla disease skos:exactMatch Orphanet:309334 Salla disease semapv:UnspecifiedMatching MONDO:0011449 Salla disease skos:exactMatch SCTID:87074006 semapv:UnspecifiedMatching MONDO:0011449 Salla disease skos:exactMatch UMLS:C1096903 semapv:UnspecifiedMatching MONDO:0011450 breast-ovarian cancer, familial, susceptibility to, 1 skos:exactMatch MEDGEN:382914 semapv:UnspecifiedMatching MONDO:0011450 breast-ovarian cancer, familial, susceptibility to, 1 skos:exactMatch OMIM:604370 breast-ovarian cancer, familial, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0011450 breast-ovarian cancer, familial, susceptibility to, 1 skos:exactMatch UMLS:C2676676 semapv:UnspecifiedMatching MONDO:0011451 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 skos:exactMatch DOID:0080357 mitochondrial complex IV deficiency nuclear type 2 semapv:UnspecifiedMatching MONDO:0011451 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 skos:exactMatch MEDGEN:1748867 semapv:UnspecifiedMatching MONDO:0011451 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 skos:exactMatch OMIM:604377 mitochondrial complex 4 deficiency, nuclear type 2 semapv:UnspecifiedMatching MONDO:0011451 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 skos:exactMatch UMLS:C5399977 semapv:UnspecifiedMatching MONDO:0011452 hypotrichosis 7 skos:exactMatch DOID:0110704 hypotrichosis 7 semapv:UnspecifiedMatching MONDO:0011452 hypotrichosis 7 skos:exactMatch MEDGEN:322969 semapv:UnspecifiedMatching MONDO:0011452 hypotrichosis 7 skos:exactMatch OMIM:604379 hypotrichosis 7 semapv:UnspecifiedMatching MONDO:0011452 hypotrichosis 7 skos:exactMatch UMLS:C1836672 semapv:UnspecifiedMatching MONDO:0011452 hypotrichosis 7 skos:exactMatch mesh:C536973 semapv:UnspecifiedMatching MONDO:0011453 ulnar ray dysgenesis with postaxial polydactyly and renal cystic dysplasia skos:exactMatch MEDGEN:346903 semapv:UnspecifiedMatching MONDO:0011453 ulnar ray dysgenesis with postaxial polydactyly and renal cystic dysplasia skos:exactMatch OMIM:604380 ulnar ray dysgenesis with postaxial polydactyly and renal cystic dysplasia semapv:UnspecifiedMatching MONDO:0011453 ulnar ray dysgenesis with postaxial polydactyly and renal cystic dysplasia skos:exactMatch UMLS:C1858422 semapv:UnspecifiedMatching MONDO:0011453 ulnar ray dysgenesis with postaxial polydactyly and renal cystic dysplasia skos:exactMatch mesh:C565783 semapv:UnspecifiedMatching MONDO:0011454 patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome skos:exactMatch MEDGEN:346902 semapv:UnspecifiedMatching MONDO:0011454 patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome skos:exactMatch OMIM:604381 patent ductus arteriosus and bicuspid aortic valve with hand anomalies semapv:UnspecifiedMatching MONDO:0011454 patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome skos:exactMatch Orphanet:228190 Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome semapv:UnspecifiedMatching MONDO:0011454 patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome skos:exactMatch UMLS:C1858420 semapv:UnspecifiedMatching MONDO:0011454 patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome skos:exactMatch mesh:C565782 semapv:UnspecifiedMatching MONDO:0011455 lissencephaly, familial, with cleft palate and cerebellar hypoplasia skos:exactMatch MEDGEN:348938 semapv:UnspecifiedMatching MONDO:0011455 lissencephaly, familial, with cleft palate and cerebellar hypoplasia skos:exactMatch OMIM:604382 lissencephaly, familial, with cleft palate and cerebellar hypoplasia semapv:UnspecifiedMatching MONDO:0011455 lissencephaly, familial, with cleft palate and cerebellar hypoplasia skos:exactMatch UMLS:C1858419 semapv:UnspecifiedMatching MONDO:0011455 lissencephaly, familial, with cleft palate and cerebellar hypoplasia skos:exactMatch mesh:C565781 semapv:UnspecifiedMatching MONDO:0011456 nephronophthisis 3 skos:exactMatch DOID:0111114 nephronophthisis 3 semapv:UnspecifiedMatching MONDO:0011456 nephronophthisis 3 skos:exactMatch MEDGEN:346809 semapv:UnspecifiedMatching MONDO:0011456 nephronophthisis 3 skos:exactMatch OMIM:604387 nephronophthisis 3 semapv:UnspecifiedMatching MONDO:0011456 nephronophthisis 3 skos:exactMatch UMLS:C1858392 semapv:UnspecifiedMatching MONDO:0011456 nephronophthisis 3 skos:exactMatch mesh:C565780 semapv:UnspecifiedMatching MONDO:0011457 ataxia-telangiectasia-like disorder skos:exactMatch MEDGEN:348929 semapv:UnspecifiedMatching MONDO:0011457 ataxia-telangiectasia-like disorder skos:exactMatch OMIMPS:604391 Ataxia-telangiectasia-like disorder semapv:UnspecifiedMatching MONDO:0011457 ataxia-telangiectasia-like disorder skos:exactMatch SCTID:700058006 semapv:UnspecifiedMatching MONDO:0011457 ataxia-telangiectasia-like disorder skos:exactMatch UMLS:C1858391 semapv:UnspecifiedMatching MONDO:0011457 ataxia-telangiectasia-like disorder skos:exactMatch icd11.foundation:242329289 Ataxia-telangiectasia-like disorder semapv:UnspecifiedMatching MONDO:0011457 ataxia-telangiectasia-like disorder skos:exactMatch mesh:C565779 semapv:UnspecifiedMatching MONDO:0011458 Leber congenital amaurosis 4 skos:exactMatch DOID:0110332 Leber congenital amaurosis 4 semapv:UnspecifiedMatching MONDO:0011458 Leber congenital amaurosis 4 skos:exactMatch MEDGEN:346808 semapv:UnspecifiedMatching MONDO:0011458 Leber congenital amaurosis 4 skos:exactMatch OMIM:604393 leber congenital amaurosis 4 semapv:UnspecifiedMatching MONDO:0011458 Leber congenital amaurosis 4 skos:exactMatch UMLS:C1858386 semapv:UnspecifiedMatching MONDO:0011458 Leber congenital amaurosis 4 skos:exactMatch mesh:C565778 semapv:UnspecifiedMatching MONDO:0011459 arrhythmogenic right ventricular dysplasia 5 skos:exactMatch DOID:0110074 arrhythmogenic right ventricular dysplasia 5 semapv:UnspecifiedMatching MONDO:0011459 arrhythmogenic right ventricular dysplasia 5 skos:exactMatch MEDGEN:346805 semapv:UnspecifiedMatching MONDO:0011459 arrhythmogenic right ventricular dysplasia 5 skos:exactMatch OMIM:604400 arrhythmogenic right ventricular dysplasia, familial, 5 semapv:UnspecifiedMatching MONDO:0011459 arrhythmogenic right ventricular dysplasia 5 skos:exactMatch UMLS:C1858379 semapv:UnspecifiedMatching MONDO:0011459 arrhythmogenic right ventricular dysplasia 5 skos:exactMatch mesh:C565776 semapv:UnspecifiedMatching MONDO:0011460 arrhythmogenic right ventricular dysplasia 6 skos:exactMatch DOID:0110075 arrhythmogenic right ventricular dysplasia 6 semapv:UnspecifiedMatching MONDO:0011460 arrhythmogenic right ventricular dysplasia 6 skos:exactMatch MEDGEN:346892 semapv:UnspecifiedMatching MONDO:0011460 arrhythmogenic right ventricular dysplasia 6 skos:exactMatch OMIM:604401 arrhythmogenic right ventricular dysplasia, familial, 6 semapv:UnspecifiedMatching MONDO:0011460 arrhythmogenic right ventricular dysplasia 6 skos:exactMatch UMLS:C1858378 semapv:UnspecifiedMatching MONDO:0011460 arrhythmogenic right ventricular dysplasia 6 skos:exactMatch mesh:C565775 semapv:UnspecifiedMatching MONDO:0011461 generalized epilepsy with febrile seizures plus, type 2 skos:exactMatch DOID:0111294 generalized epilepsy with febrile seizures plus 2 semapv:UnspecifiedMatching MONDO:0011461 generalized epilepsy with febrile seizures plus, type 2 skos:exactMatch MEDGEN:388117 semapv:UnspecifiedMatching MONDO:0011461 generalized epilepsy with febrile seizures plus, type 2 skos:exactMatch OMIM:604403 generalized epilepsy with febrile seizures plus, type 2 semapv:UnspecifiedMatching MONDO:0011461 generalized epilepsy with febrile seizures plus, type 2 skos:exactMatch UMLS:C1858673 semapv:UnspecifiedMatching MONDO:0011461 generalized epilepsy with febrile seizures plus, type 2 skos:exactMatch mesh:C565810 semapv:UnspecifiedMatching MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome skos:exactMatch DOID:0080519 PAPA syndrome semapv:UnspecifiedMatching MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome skos:exactMatch MEDGEN:346801 semapv:UnspecifiedMatching MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome skos:exactMatch NCIT:C119055 Pyogenic Arthritis, Pyoderma Gangrenosum and Acne semapv:UnspecifiedMatching MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome skos:exactMatch OMIM:604416 pyogenic sterile arthritis, pyoderma gangrenosum, and acne semapv:UnspecifiedMatching MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome skos:exactMatch Orphanet:69126 PAPA syndrome semapv:UnspecifiedMatching MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome skos:exactMatch SCTID:724015007 semapv:UnspecifiedMatching MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome skos:exactMatch UMLS:C1858361 semapv:UnspecifiedMatching MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome skos:exactMatch mesh:C536253 semapv:UnspecifiedMatching MONDO:0011463 polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive skos:exactMatch MEDGEN:348918 semapv:UnspecifiedMatching MONDO:0011463 polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive skos:exactMatch OMIM:604431 polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive semapv:UnspecifiedMatching MONDO:0011463 polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive skos:exactMatch Orphanet:538096 Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy semapv:UnspecifiedMatching MONDO:0011463 polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive skos:exactMatch UMLS:C1858353 semapv:UnspecifiedMatching MONDO:0011463 polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive skos:exactMatch mesh:C565773 semapv:UnspecifiedMatching MONDO:0011464 spinocerebellar ataxia type 11 skos:exactMatch DOID:0050961 spinocerebellar ataxia 11 semapv:UnspecifiedMatching MONDO:0011464 spinocerebellar ataxia type 11 skos:exactMatch MEDGEN:346799 semapv:UnspecifiedMatching MONDO:0011464 spinocerebellar ataxia type 11 skos:exactMatch OMIM:604432 spinocerebellar ataxia 11 semapv:UnspecifiedMatching MONDO:0011464 spinocerebellar ataxia type 11 skos:exactMatch Orphanet:98767 Spinocerebellar ataxia type 11 semapv:UnspecifiedMatching MONDO:0011464 spinocerebellar ataxia type 11 skos:exactMatch SCTID:719207000 semapv:UnspecifiedMatching MONDO:0011464 spinocerebellar ataxia type 11 skos:exactMatch UMLS:C1858351 semapv:UnspecifiedMatching MONDO:0011464 spinocerebellar ataxia type 11 skos:exactMatch icd11.foundation:743674840 Spinocerebellar ataxia type 11 semapv:UnspecifiedMatching MONDO:0011464 spinocerebellar ataxia type 11 skos:exactMatch mesh:C565772 semapv:UnspecifiedMatching MONDO:0011465 infundibulocystic basal cell carcinoma skos:exactMatch DOID:4279 infundibulocystic basal cell carcinoma semapv:UnspecifiedMatching MONDO:0011465 infundibulocystic basal cell carcinoma skos:exactMatch MEDGEN:220984 semapv:UnspecifiedMatching MONDO:0011465 infundibulocystic basal cell carcinoma skos:exactMatch NCIT:C27540 Skin Infundibulocystic Basal Cell Carcinoma semapv:UnspecifiedMatching MONDO:0011465 infundibulocystic basal cell carcinoma skos:exactMatch OMIM:604451 basal cell carcinoma, infundibulocystic semapv:UnspecifiedMatching MONDO:0011465 infundibulocystic basal cell carcinoma skos:exactMatch UMLS:C1304297 semapv:UnspecifiedMatching MONDO:0011465 infundibulocystic basal cell carcinoma skos:exactMatch mesh:C537655 semapv:UnspecifiedMatching MONDO:0011466 distal myopathy, Welander type skos:exactMatch MEDGEN:67441 semapv:UnspecifiedMatching MONDO:0011466 distal myopathy, Welander type skos:exactMatch OMIM:604454 welander distal myopathy semapv:UnspecifiedMatching MONDO:0011466 distal myopathy, Welander type skos:exactMatch Orphanet:603 Distal myopathy, Welander type semapv:UnspecifiedMatching MONDO:0011466 distal myopathy, Welander type skos:exactMatch UMLS:C0221054 semapv:UnspecifiedMatching MONDO:0011467 obsolete human herpesvirus type 6, integrated skos:exactMatch OMIM:604474 human herpesvirus type 6, integrated semapv:UnspecifiedMatching MONDO:0011467 obsolete human herpesvirus type 6, integrated skos:exactMatch mesh:C565771 semapv:UnspecifiedMatching MONDO:0011468 hereditary motor and sensory neuropathy, Okinawa type skos:exactMatch MEDGEN:346886 semapv:UnspecifiedMatching MONDO:0011468 hereditary motor and sensory neuropathy, Okinawa type skos:exactMatch OMIM:604484 neuropathy, hereditary motor and sensory, okinawa type semapv:UnspecifiedMatching MONDO:0011468 hereditary motor and sensory neuropathy, Okinawa type skos:exactMatch Orphanet:90117 Hereditary motor and sensory neuropathy, Okinawa type semapv:UnspecifiedMatching MONDO:0011468 hereditary motor and sensory neuropathy, Okinawa type skos:exactMatch UMLS:C1858338 semapv:UnspecifiedMatching MONDO:0011468 hereditary motor and sensory neuropathy, Okinawa type skos:exactMatch mesh:C535717 semapv:UnspecifiedMatching MONDO:0011470 hyperlipidemia, combined, 2 skos:exactMatch MEDGEN:346879 semapv:UnspecifiedMatching MONDO:0011470 hyperlipidemia, combined, 2 skos:exactMatch OMIM:604499 hyperlipidemia, familial combined, 2 semapv:UnspecifiedMatching MONDO:0011470 hyperlipidemia, combined, 2 skos:exactMatch UMLS:C1858308 semapv:UnspecifiedMatching MONDO:0011470 hyperlipidemia, combined, 2 skos:exactMatch mesh:C565766 semapv:UnspecifiedMatching MONDO:0011471 inflammatory bowel disease 3 skos:exactMatch DOID:0110891 inflammatory bowel disease 3 semapv:UnspecifiedMatching MONDO:0011471 inflammatory bowel disease 3 skos:exactMatch MEDGEN:346785 semapv:UnspecifiedMatching MONDO:0011471 inflammatory bowel disease 3 skos:exactMatch OMIM:604519 inflammatory bowel disease 3 semapv:UnspecifiedMatching MONDO:0011471 inflammatory bowel disease 3 skos:exactMatch UMLS:C1858303 semapv:UnspecifiedMatching MONDO:0011471 inflammatory bowel disease 3 skos:exactMatch mesh:C565764 semapv:UnspecifiedMatching MONDO:0011472 epidermolysis bullosa simplex due to plakophilin deficiency skos:exactMatch MEDGEN:388032 semapv:UnspecifiedMatching MONDO:0011472 epidermolysis bullosa simplex due to plakophilin deficiency skos:exactMatch OMIM:604536 ectodermal dysplasia/skin fragility syndrome semapv:UnspecifiedMatching MONDO:0011472 epidermolysis bullosa simplex due to plakophilin deficiency skos:exactMatch Orphanet:158668 Ectodermal dysplasia-skin fragility syndrome semapv:UnspecifiedMatching MONDO:0011472 epidermolysis bullosa simplex due to plakophilin deficiency skos:exactMatch SCTID:716699004 semapv:UnspecifiedMatching MONDO:0011472 epidermolysis bullosa simplex due to plakophilin deficiency skos:exactMatch UMLS:C1858302 semapv:UnspecifiedMatching MONDO:0011472 epidermolysis bullosa simplex due to plakophilin deficiency skos:exactMatch mesh:C536183 semapv:UnspecifiedMatching MONDO:0011473 Leber congenital amaurosis 5 skos:exactMatch DOID:0110215 Leber congenital amaurosis 5 semapv:UnspecifiedMatching MONDO:0011473 Leber congenital amaurosis 5 skos:exactMatch MEDGEN:388031 semapv:UnspecifiedMatching MONDO:0011473 Leber congenital amaurosis 5 skos:exactMatch OMIM:604537 leber congenital amaurosis 5 semapv:UnspecifiedMatching MONDO:0011473 Leber congenital amaurosis 5 skos:exactMatch UMLS:C1858301 semapv:UnspecifiedMatching MONDO:0011473 Leber congenital amaurosis 5 skos:exactMatch mesh:C536602 semapv:UnspecifiedMatching MONDO:0011474 progressive familial heart block type IB skos:exactMatch DOID:0111076 progressive familial heart block type IB semapv:UnspecifiedMatching MONDO:0011474 progressive familial heart block type IB skos:exactMatch MEDGEN:370220 semapv:UnspecifiedMatching MONDO:0011474 progressive familial heart block type IB skos:exactMatch OMIM:604559 progressive familial heart block, type 1b semapv:UnspecifiedMatching MONDO:0011474 progressive familial heart block type IB skos:exactMatch SCTID:698250005 semapv:UnspecifiedMatching MONDO:0011474 progressive familial heart block type IB skos:exactMatch UMLS:C1970298 semapv:UnspecifiedMatching MONDO:0011474 progressive familial heart block type IB skos:exactMatch mesh:C567037 semapv:UnspecifiedMatching MONDO:0011475 Charcot-Marie-Tooth disease type 4B2 skos:exactMatch DOID:0110190 Charcot-Marie-Tooth disease type 4B2 semapv:UnspecifiedMatching MONDO:0011475 Charcot-Marie-Tooth disease type 4B2 skos:exactMatch MEDGEN:346869 semapv:UnspecifiedMatching MONDO:0011475 Charcot-Marie-Tooth disease type 4B2 skos:exactMatch OMIM:604563 charcot-marie-tooth disease, demyelinating, type 4b2 semapv:UnspecifiedMatching MONDO:0011475 Charcot-Marie-Tooth disease type 4B2 skos:exactMatch Orphanet:99956 Charcot-Marie-Tooth disease type 4B2 semapv:UnspecifiedMatching MONDO:0011475 Charcot-Marie-Tooth disease type 4B2 skos:exactMatch SCTID:715800000 semapv:UnspecifiedMatching MONDO:0011475 Charcot-Marie-Tooth disease type 4B2 skos:exactMatch UMLS:C1858278 semapv:UnspecifiedMatching MONDO:0011475 Charcot-Marie-Tooth disease type 4B2 skos:exactMatch icd11.foundation:393759720 Charcot-Marie-Tooth disease type 4B2 semapv:UnspecifiedMatching MONDO:0011475 Charcot-Marie-Tooth disease type 4B2 skos:exactMatch mesh:C535421 semapv:UnspecifiedMatching MONDO:0011476 MHC class I deficiency skos:exactMatch DOID:0060009 MHC class I deficiency semapv:UnspecifiedMatching MONDO:0011476 MHC class I deficiency skos:exactMatch MEDGEN:346868 semapv:UnspecifiedMatching MONDO:0011476 MHC class I deficiency skos:exactMatch OMIMPS:604571 MHC class I deficiency semapv:UnspecifiedMatching MONDO:0011476 MHC class I deficiency skos:exactMatch Orphanet:34592 Immunodeficiency by defective expression of MHC class I semapv:UnspecifiedMatching MONDO:0011476 MHC class I deficiency skos:exactMatch SCTID:725136003 semapv:UnspecifiedMatching MONDO:0011476 MHC class I deficiency skos:exactMatch UMLS:C1858266 semapv:UnspecifiedMatching MONDO:0011476 MHC class I deficiency skos:exactMatch icd11.foundation:489749747 Major histocompatibility complex class I deficiency semapv:UnspecifiedMatching MONDO:0011477 tooth agenesis, selective, 3 skos:exactMatch MEDGEN:410035 semapv:UnspecifiedMatching MONDO:0011477 tooth agenesis, selective, 3 skos:exactMatch OMIM:604625 tooth agenesis, selective, 3 semapv:UnspecifiedMatching MONDO:0011477 tooth agenesis, selective, 3 skos:exactMatch UMLS:C1970291 semapv:UnspecifiedMatching MONDO:0011477 tooth agenesis, selective, 3 skos:exactMatch mesh:C567036 semapv:UnspecifiedMatching MONDO:0011478 growth and developintellectual disability, ocular ptosis, cardiac defect, and anal atresia skos:exactMatch MEDGEN:346757 semapv:UnspecifiedMatching MONDO:0011478 growth and developintellectual disability, ocular ptosis, cardiac defect, and anal atresia skos:exactMatch OMIM:604690 growth and developmental retardation, ocular ptosis, cardiac defect, and anal atresia semapv:UnspecifiedMatching MONDO:0011478 growth and developintellectual disability, ocular ptosis, cardiac defect, and anal atresia skos:exactMatch UMLS:C1858182 semapv:UnspecifiedMatching MONDO:0011478 growth and developintellectual disability, ocular ptosis, cardiac defect, and anal atresia skos:exactMatch mesh:C565755 semapv:UnspecifiedMatching MONDO:0011479 postural orthostatic tachycardia syndrome skos:exactMatch DOID:0111154 postural orthostatic tachycardia syndrome semapv:UnspecifiedMatching MONDO:0011479 postural orthostatic tachycardia syndrome skos:exactMatch EFO:1000645 semapv:UnspecifiedMatching MONDO:0011479 postural orthostatic tachycardia syndrome skos:exactMatch MEDGEN:226970 semapv:UnspecifiedMatching MONDO:0011479 postural orthostatic tachycardia syndrome skos:exactMatch NCIT:C85020 Postural Orthostatic Tachycardia Syndrome semapv:UnspecifiedMatching MONDO:0011479 postural orthostatic tachycardia syndrome skos:exactMatch OMIM:604715 orthostatic intolerance semapv:UnspecifiedMatching MONDO:0011479 postural orthostatic tachycardia syndrome skos:exactMatch Orphanet:443236 Postural orthostatic tachycardia syndrome due to NET deficiency semapv:UnspecifiedMatching MONDO:0011479 postural orthostatic tachycardia syndrome skos:exactMatch SCTID:371073003 semapv:UnspecifiedMatching MONDO:0011479 postural orthostatic tachycardia syndrome skos:exactMatch UMLS:C1299624 semapv:UnspecifiedMatching MONDO:0011479 postural orthostatic tachycardia syndrome skos:exactMatch icd11.foundation:1533647472 Postural orthostatic tachycardia syndrome semapv:UnspecifiedMatching MONDO:0011479 postural orthostatic tachycardia syndrome skos:exactMatch mesh:D054972 semapv:UnspecifiedMatching MONDO:0011480 autosomal dominant nonsyndromic hearing loss 20 skos:exactMatch DOID:0110550 autosomal dominant nonsyndromic deafness 20 semapv:UnspecifiedMatching MONDO:0011480 autosomal dominant nonsyndromic hearing loss 20 skos:exactMatch MEDGEN:346852 semapv:UnspecifiedMatching MONDO:0011480 autosomal dominant nonsyndromic hearing loss 20 skos:exactMatch OMIM:604717 deafness, autosomal dominant 20 semapv:UnspecifiedMatching MONDO:0011480 autosomal dominant nonsyndromic hearing loss 20 skos:exactMatch UMLS:C1858172 semapv:UnspecifiedMatching MONDO:0011480 autosomal dominant nonsyndromic hearing loss 20 skos:exactMatch mesh:C565754 semapv:UnspecifiedMatching MONDO:0011481 craniosynostosis 2 skos:exactMatch DOID:0061009 craniosynostosis 2 semapv:UnspecifiedMatching MONDO:0011481 craniosynostosis 2 skos:exactMatch MEDGEN:346753 semapv:UnspecifiedMatching MONDO:0011481 craniosynostosis 2 skos:exactMatch OMIM:604757 craniosynostosis 2 semapv:UnspecifiedMatching MONDO:0011481 craniosynostosis 2 skos:exactMatch Orphanet:1541 Craniosynostosis, Boston type semapv:UnspecifiedMatching MONDO:0011481 craniosynostosis 2 skos:exactMatch SCTID:720817008 semapv:UnspecifiedMatching MONDO:0011481 craniosynostosis 2 skos:exactMatch UMLS:C1858160 semapv:UnspecifiedMatching MONDO:0011482 dilated cardiomyopathy 1I skos:exactMatch DOID:0110431 dilated cardiomyopathy 1I semapv:UnspecifiedMatching MONDO:0011482 dilated cardiomyopathy 1I skos:exactMatch MEDGEN:387998 semapv:UnspecifiedMatching MONDO:0011482 dilated cardiomyopathy 1I skos:exactMatch OMIM:604765 cardiomyopathy, dilated, 1i semapv:UnspecifiedMatching MONDO:0011482 dilated cardiomyopathy 1I skos:exactMatch UMLS:C1858154 semapv:UnspecifiedMatching MONDO:0011482 dilated cardiomyopathy 1I skos:exactMatch mesh:C565752 semapv:UnspecifiedMatching MONDO:0011483 polycystic bone disease skos:exactMatch MEDGEN:346749 semapv:UnspecifiedMatching MONDO:0011483 polycystic bone disease skos:exactMatch OMIM:604771 polycystic bone disease semapv:UnspecifiedMatching MONDO:0011483 polycystic bone disease skos:exactMatch UMLS:C1858143 semapv:UnspecifiedMatching MONDO:0011483 polycystic bone disease skos:exactMatch mesh:C536324 semapv:UnspecifiedMatching MONDO:0011484 catecholaminergic polymorphic ventricular tachycardia 1 skos:exactMatch DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 semapv:UnspecifiedMatching MONDO:0011484 catecholaminergic polymorphic ventricular tachycardia 1 skos:exactMatch MEDGEN:351513 semapv:UnspecifiedMatching MONDO:0011484 catecholaminergic polymorphic ventricular tachycardia 1 skos:exactMatch NCIT:C123414 Catecholaminergic Polymorphic Ventricular Tachycardia Type 1 semapv:UnspecifiedMatching MONDO:0011484 catecholaminergic polymorphic ventricular tachycardia 1 skos:exactMatch OMIM:604772 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy semapv:UnspecifiedMatching MONDO:0011484 catecholaminergic polymorphic ventricular tachycardia 1 skos:exactMatch UMLS:C1631597 semapv:UnspecifiedMatching MONDO:0011484 catecholaminergic polymorphic ventricular tachycardia 1 skos:exactMatch mesh:C563409 semapv:UnspecifiedMatching MONDO:0011485 autosomal recessive congenital ichthyosis 5 skos:exactMatch DOID:0060714 autosomal recessive congenital ichthyosis 5 semapv:UnspecifiedMatching MONDO:0011485 autosomal recessive congenital ichthyosis 5 skos:exactMatch MEDGEN:347628 semapv:UnspecifiedMatching MONDO:0011485 autosomal recessive congenital ichthyosis 5 skos:exactMatch OMIM:604777 ichthyosis, congenital, autosomal recessive 5 semapv:UnspecifiedMatching MONDO:0011485 autosomal recessive congenital ichthyosis 5 skos:exactMatch UMLS:C1858133 semapv:UnspecifiedMatching MONDO:0011485 autosomal recessive congenital ichthyosis 5 skos:exactMatch mesh:C537265 semapv:UnspecifiedMatching MONDO:0011486 congenital muscular dystrophy 1B skos:exactMatch DOID:0110634 congenital muscular dystrophy 1B semapv:UnspecifiedMatching MONDO:0011486 congenital muscular dystrophy 1B skos:exactMatch MEDGEN:346746 semapv:UnspecifiedMatching MONDO:0011486 congenital muscular dystrophy 1B skos:exactMatch OMIM:604801 muscular dystrophy, congenital, 1b semapv:UnspecifiedMatching MONDO:0011486 congenital muscular dystrophy 1B skos:exactMatch Orphanet:98893 Congenital muscular dystrophy type 1B semapv:UnspecifiedMatching MONDO:0011486 congenital muscular dystrophy 1B skos:exactMatch SCTID:764944006 semapv:UnspecifiedMatching MONDO:0011486 congenital muscular dystrophy 1B skos:exactMatch UMLS:C1858118 semapv:UnspecifiedMatching MONDO:0011486 congenital muscular dystrophy 1B skos:exactMatch mesh:C565748 semapv:UnspecifiedMatching MONDO:0011487 Huntington disease-like 3 skos:exactMatch MEDGEN:347622 semapv:UnspecifiedMatching MONDO:0011487 Huntington disease-like 3 skos:exactMatch OMIM:604802 huntington disease-like 3 semapv:UnspecifiedMatching MONDO:0011487 Huntington disease-like 3 skos:exactMatch Orphanet:157946 Huntington disease-like 3 semapv:UnspecifiedMatching MONDO:0011487 Huntington disease-like 3 skos:exactMatch UMLS:C1858114 semapv:UnspecifiedMatching MONDO:0011487 Huntington disease-like 3 skos:exactMatch mesh:C565747 semapv:UnspecifiedMatching MONDO:0011488 microcephaly 3, primary, autosomal recessive skos:exactMatch DOID:0070286 primary autosomal recessive microcephaly 3 semapv:UnspecifiedMatching MONDO:0011488 microcephaly 3, primary, autosomal recessive skos:exactMatch MEDGEN:347619 semapv:UnspecifiedMatching MONDO:0011488 microcephaly 3, primary, autosomal recessive skos:exactMatch OMIM:604804 microcephaly 3, primary, autosomal recessive semapv:UnspecifiedMatching MONDO:0011488 microcephaly 3, primary, autosomal recessive skos:exactMatch UMLS:C1858108 semapv:UnspecifiedMatching MONDO:0011488 microcephaly 3, primary, autosomal recessive skos:exactMatch mesh:C565746 semapv:UnspecifiedMatching MONDO:0011489 hereditary spastic paraplegia 12 skos:exactMatch DOID:0110765 hereditary spastic paraplegia 12 semapv:UnspecifiedMatching MONDO:0011489 hereditary spastic paraplegia 12 skos:exactMatch MEDGEN:347618 semapv:UnspecifiedMatching MONDO:0011489 hereditary spastic paraplegia 12 skos:exactMatch OMIM:604805 spastic paraplegia 12, autosomal dominant semapv:UnspecifiedMatching MONDO:0011489 hereditary spastic paraplegia 12 skos:exactMatch Orphanet:100993 Autosomal dominant spastic paraplegia type 12 semapv:UnspecifiedMatching MONDO:0011489 hereditary spastic paraplegia 12 skos:exactMatch SCTID:763374004 semapv:UnspecifiedMatching MONDO:0011489 hereditary spastic paraplegia 12 skos:exactMatch UMLS:C1858106 semapv:UnspecifiedMatching MONDO:0011489 hereditary spastic paraplegia 12 skos:exactMatch mesh:C537484 semapv:UnspecifiedMatching MONDO:0011490 diffuse panbronchiolitis skos:exactMatch MEDGEN:163897 semapv:UnspecifiedMatching MONDO:0011490 diffuse panbronchiolitis skos:exactMatch OMIM:604809 panbronchiolitis, diffuse semapv:UnspecifiedMatching MONDO:0011490 diffuse panbronchiolitis skos:exactMatch Orphanet:171700 Diffuse panbronchiolitis semapv:UnspecifiedMatching MONDO:0011490 diffuse panbronchiolitis skos:exactMatch SCTID:430476004 semapv:UnspecifiedMatching MONDO:0011490 diffuse panbronchiolitis skos:exactMatch UMLS:C0878555 semapv:UnspecifiedMatching MONDO:0011490 diffuse panbronchiolitis skos:exactMatch icd11.foundation:291357751 Diffuse panbronchiolitis semapv:UnspecifiedMatching MONDO:0011490 diffuse panbronchiolitis skos:exactMatch mesh:C536174 semapv:UnspecifiedMatching MONDO:0011491 epilepsy, idiopathic generalized, susceptibility to, 7 skos:exactMatch MEDGEN:442800 semapv:UnspecifiedMatching MONDO:0011491 epilepsy, idiopathic generalized, susceptibility to, 7 skos:exactMatch OMIM:604827 epilepsy, idiopathic generalized, susceptibility to, 7 semapv:UnspecifiedMatching MONDO:0011491 epilepsy, idiopathic generalized, susceptibility to, 7 skos:exactMatch UMLS:C2751729 semapv:UnspecifiedMatching MONDO:0011492 mandibulofacial dysostosis syndrome, Bauru type skos:exactMatch MEDGEN:346839 semapv:UnspecifiedMatching MONDO:0011492 mandibulofacial dysostosis syndrome, Bauru type skos:exactMatch OMIM:604830 mandibulofacial dysostosis syndrome, bauru type semapv:UnspecifiedMatching MONDO:0011492 mandibulofacial dysostosis syndrome, Bauru type skos:exactMatch UMLS:C1858101 semapv:UnspecifiedMatching MONDO:0011492 mandibulofacial dysostosis syndrome, Bauru type skos:exactMatch mesh:C565744 semapv:UnspecifiedMatching MONDO:0011493 Stickler syndrome type 2 skos:exactMatch DOID:0080675 Stickler syndrome 2 semapv:UnspecifiedMatching MONDO:0011493 Stickler syndrome type 2 skos:exactMatch MEDGEN:347615 semapv:UnspecifiedMatching MONDO:0011493 Stickler syndrome type 2 skos:exactMatch NCIT:C74985 Stickler Syndrome Type 2 semapv:UnspecifiedMatching MONDO:0011493 Stickler syndrome type 2 skos:exactMatch OMIM:604841 stickler syndrome, type 2 semapv:UnspecifiedMatching MONDO:0011493 Stickler syndrome type 2 skos:exactMatch Orphanet:90654 Stickler syndrome type 2 semapv:UnspecifiedMatching MONDO:0011493 Stickler syndrome type 2 skos:exactMatch UMLS:C1858084 semapv:UnspecifiedMatching MONDO:0011493 Stickler syndrome type 2 skos:exactMatch icd11.foundation:1652024415 Stickler syndrome type 2 semapv:UnspecifiedMatching MONDO:0011493 Stickler syndrome type 2 skos:exactMatch mesh:C537493 semapv:UnspecifiedMatching MONDO:0011494 hyaluronan metabolism, defect 1N skos:exactMatch MEDGEN:347614 semapv:UnspecifiedMatching MONDO:0011494 hyaluronan metabolism, defect 1N skos:exactMatch OMIM:604855 hyaluronan metabolism, defect 1n semapv:UnspecifiedMatching MONDO:0011494 hyaluronan metabolism, defect 1N skos:exactMatch UMLS:C1858083 semapv:UnspecifiedMatching MONDO:0011494 hyaluronan metabolism, defect 1N skos:exactMatch mesh:C565742 semapv:UnspecifiedMatching MONDO:0011496 mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis skos:exactMatch MEDGEN:609409 semapv:UnspecifiedMatching MONDO:0011496 mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis skos:exactMatch OMIM:604864 osteoarthritis with mild chondrodysplasia semapv:UnspecifiedMatching MONDO:0011496 mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis skos:exactMatch Orphanet:93279 Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis semapv:UnspecifiedMatching MONDO:0011496 mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis skos:exactMatch SCTID:254064009 semapv:UnspecifiedMatching MONDO:0011496 mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis skos:exactMatch UMLS:C0432214 semapv:UnspecifiedMatching MONDO:0011496 mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis skos:exactMatch icd11.foundation:690266690 Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis semapv:UnspecifiedMatching MONDO:0011496 mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis skos:exactMatch mesh:C565740 semapv:UnspecifiedMatching MONDO:0011497 hereditary North American Indian childhood cirrhosis skos:exactMatch MEDGEN:387974 semapv:UnspecifiedMatching MONDO:0011497 hereditary North American Indian childhood cirrhosis skos:exactMatch OMIM:604901 north american indian childhood cirrhosis semapv:UnspecifiedMatching MONDO:0011497 hereditary North American Indian childhood cirrhosis skos:exactMatch Orphanet:168583 Hereditary North American Indian childhood cirrhosis semapv:UnspecifiedMatching MONDO:0011497 hereditary North American Indian childhood cirrhosis skos:exactMatch SCTID:699189004 semapv:UnspecifiedMatching MONDO:0011497 hereditary North American Indian childhood cirrhosis skos:exactMatch UMLS:C1858051 semapv:UnspecifiedMatching MONDO:0011497 hereditary North American Indian childhood cirrhosis skos:exactMatch icd11.foundation:1992710077 Hereditary North American Indian childhood cirrhosis semapv:UnspecifiedMatching MONDO:0011497 hereditary North American Indian childhood cirrhosis skos:exactMatch mesh:C565737 semapv:UnspecifiedMatching MONDO:0011498 schizophrenia 9 skos:exactMatch DOID:0070085 schizophrenia 9 semapv:UnspecifiedMatching MONDO:0011498 schizophrenia 9 skos:exactMatch MEDGEN:346728 semapv:UnspecifiedMatching MONDO:0011498 schizophrenia 9 skos:exactMatch OMIM:604906 schizophrenia 9 semapv:UnspecifiedMatching MONDO:0011498 schizophrenia 9 skos:exactMatch UMLS:C1858050 semapv:UnspecifiedMatching MONDO:0011500 Becker nevus syndrome skos:exactMatch MEDGEN:347608 semapv:UnspecifiedMatching MONDO:0011500 Becker nevus syndrome skos:exactMatch OMIM:604919 becker nevus syndrome semapv:UnspecifiedMatching MONDO:0011500 Becker nevus syndrome skos:exactMatch Orphanet:64755 Becker nevus syndrome semapv:UnspecifiedMatching MONDO:0011500 Becker nevus syndrome skos:exactMatch UMLS:C1858042 semapv:UnspecifiedMatching MONDO:0011500 Becker nevus syndrome skos:exactMatch mesh:C565735 semapv:UnspecifiedMatching MONDO:0011501 wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia skos:exactMatch MEDGEN:387969 semapv:UnspecifiedMatching MONDO:0011501 wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia skos:exactMatch OMIM:604922 cortical defects, wormian bones, and dentinogenesis imperfecta semapv:UnspecifiedMatching MONDO:0011501 wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia skos:exactMatch Orphanet:166277 Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia semapv:UnspecifiedMatching MONDO:0011501 wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia skos:exactMatch UMLS:C1858032 semapv:UnspecifiedMatching MONDO:0011501 wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia skos:exactMatch mesh:C565734 semapv:UnspecifiedMatching MONDO:0011502 Wolfram syndrome 2 skos:exactMatch DOID:0110630 Wolfram syndrome 2 semapv:UnspecifiedMatching MONDO:0011502 Wolfram syndrome 2 skos:exactMatch MEDGEN:347604 semapv:UnspecifiedMatching MONDO:0011502 Wolfram syndrome 2 skos:exactMatch OMIM:604928 wolfram syndrome 2 semapv:UnspecifiedMatching MONDO:0011502 Wolfram syndrome 2 skos:exactMatch UMLS:C1858028 semapv:UnspecifiedMatching MONDO:0011502 Wolfram syndrome 2 skos:exactMatch mesh:C565733 semapv:UnspecifiedMatching MONDO:0011503 cortisone reductase deficiency 1 skos:exactMatch DOID:0090141 cortisone reductase deficiency 1 semapv:UnspecifiedMatching MONDO:0011503 cortisone reductase deficiency 1 skos:exactMatch MEDGEN:764630 semapv:UnspecifiedMatching MONDO:0011503 cortisone reductase deficiency 1 skos:exactMatch NCIT:C131849 Hexose-6-phosphate Dehydrogenase Deficiency semapv:UnspecifiedMatching MONDO:0011503 cortisone reductase deficiency 1 skos:exactMatch OMIM:604931 cortisone reductase deficiency 1 semapv:UnspecifiedMatching MONDO:0011503 cortisone reductase deficiency 1 skos:exactMatch UMLS:C3551716 semapv:UnspecifiedMatching MONDO:0011504 NDE1-related microhydranencephaly skos:exactMatch MEDGEN:341899 semapv:UnspecifiedMatching MONDO:0011504 NDE1-related microhydranencephaly skos:exactMatch OMIM:605013 microhydranencephaly semapv:UnspecifiedMatching MONDO:0011504 NDE1-related microhydranencephaly skos:exactMatch Orphanet:443162 NDE1-related microhydranencephaly semapv:UnspecifiedMatching MONDO:0011504 NDE1-related microhydranencephaly skos:exactMatch UMLS:C1857977 semapv:UnspecifiedMatching MONDO:0011504 NDE1-related microhydranencephaly skos:exactMatch mesh:C537555 semapv:UnspecifiedMatching MONDO:0011505 familial hypobetalipoproteinemia 2 skos:exactMatch DOID:0111061 familial hypobetalipoproteinemia 2 semapv:UnspecifiedMatching MONDO:0011505 familial hypobetalipoproteinemia 2 skos:exactMatch MEDGEN:341895 semapv:UnspecifiedMatching MONDO:0011505 familial hypobetalipoproteinemia 2 skos:exactMatch OMIM:605019 hypobetalipoproteinemia, familial, 2 semapv:UnspecifiedMatching MONDO:0011505 familial hypobetalipoproteinemia 2 skos:exactMatch UMLS:C1857970 semapv:UnspecifiedMatching MONDO:0011505 familial hypobetalipoproteinemia 2 skos:exactMatch mesh:C565732 semapv:UnspecifiedMatching MONDO:0011506 familial infantile myoclonic epilepsy skos:exactMatch MEDGEN:181488 semapv:UnspecifiedMatching MONDO:0011506 familial infantile myoclonic epilepsy skos:exactMatch OMIM:605021 myoclonic epilepsy, familial infantile semapv:UnspecifiedMatching MONDO:0011506 familial infantile myoclonic epilepsy skos:exactMatch Orphanet:352582 Familial infantile myoclonic epilepsy semapv:UnspecifiedMatching MONDO:0011506 familial infantile myoclonic epilepsy skos:exactMatch UMLS:C0917800 semapv:UnspecifiedMatching MONDO:0011507 diabetes mellitus, congenital autoimmune skos:exactMatch MEDGEN:347586 semapv:UnspecifiedMatching MONDO:0011507 diabetes mellitus, congenital autoimmune skos:exactMatch OMIM:605026 diabetes mellitus, congenital autoimmune semapv:UnspecifiedMatching MONDO:0011507 diabetes mellitus, congenital autoimmune skos:exactMatch UMLS:C1857958 semapv:UnspecifiedMatching MONDO:0011507 diabetes mellitus, congenital autoimmune skos:exactMatch mesh:C565730 semapv:UnspecifiedMatching MONDO:0011508 lymphoma, non-Hodgkin, familial skos:exactMatch MEDGEN:1648388 semapv:UnspecifiedMatching MONDO:0011508 lymphoma, non-Hodgkin, familial skos:exactMatch OMIM:605027 lymphoma, non-hodgkin, familial semapv:UnspecifiedMatching MONDO:0011508 lymphoma, non-Hodgkin, familial skos:exactMatch SCTID:118601006 semapv:UnspecifiedMatching MONDO:0011508 lymphoma, non-Hodgkin, familial skos:exactMatch UMLS:C4721532 semapv:UnspecifiedMatching MONDO:0011509 low density lipoprotein cholesterol, mild elevation of skos:exactMatch MEDGEN:347585 semapv:UnspecifiedMatching MONDO:0011509 low density lipoprotein cholesterol, mild elevation of skos:exactMatch OMIM:605028 low density lipoprotein cholesterol, mild elevation of semapv:UnspecifiedMatching MONDO:0011509 low density lipoprotein cholesterol, mild elevation of skos:exactMatch UMLS:C1857956 semapv:UnspecifiedMatching MONDO:0011510 Bohring-Opitz syndrome skos:exactMatch MEDGEN:208678 semapv:UnspecifiedMatching MONDO:0011510 Bohring-Opitz syndrome skos:exactMatch NCIT:C131533 Bohring-Opitz Syndrome semapv:UnspecifiedMatching MONDO:0011510 Bohring-Opitz syndrome skos:exactMatch OMIM:605039 bohring-opitz syndrome semapv:UnspecifiedMatching MONDO:0011510 Bohring-Opitz syndrome skos:exactMatch Orphanet:97297 Bohring-Opitz syndrome semapv:UnspecifiedMatching MONDO:0011510 Bohring-Opitz syndrome skos:exactMatch SCTID:720565000 semapv:UnspecifiedMatching MONDO:0011510 Bohring-Opitz syndrome skos:exactMatch UMLS:C0796232 semapv:UnspecifiedMatching MONDO:0011510 Bohring-Opitz syndrome skos:exactMatch mesh:C537419 semapv:UnspecifiedMatching MONDO:0011511 clavicular hypoplasia, zygomatic arch hypoplasia, and micrognathia skos:exactMatch MEDGEN:387951 semapv:UnspecifiedMatching MONDO:0011511 clavicular hypoplasia, zygomatic arch hypoplasia, and micrognathia skos:exactMatch OMIM:605040 clavicular hypoplasia, zygomatic arch hypoplasia, and micrognathia semapv:UnspecifiedMatching MONDO:0011511 clavicular hypoplasia, zygomatic arch hypoplasia, and micrognathia skos:exactMatch UMLS:C1857942 semapv:UnspecifiedMatching MONDO:0011511 clavicular hypoplasia, zygomatic arch hypoplasia, and micrognathia skos:exactMatch mesh:C565729 semapv:UnspecifiedMatching MONDO:0011512 Brooke-Spiegler syndrome skos:exactMatch DOID:0050693 Brooke-Spiegler syndrome semapv:UnspecifiedMatching MONDO:0011512 Brooke-Spiegler syndrome skos:exactMatch MEDGEN:346703 semapv:UnspecifiedMatching MONDO:0011512 Brooke-Spiegler syndrome skos:exactMatch NCIT:C205541 CYLD Cutaneous Syndrome semapv:UnspecifiedMatching MONDO:0011512 Brooke-Spiegler syndrome skos:exactMatch OMIM:605041 brooke-spiegler syndrome semapv:UnspecifiedMatching MONDO:0011512 Brooke-Spiegler syndrome skos:exactMatch Orphanet:79493 Brooke-Spiegler syndrome semapv:UnspecifiedMatching MONDO:0011512 Brooke-Spiegler syndrome skos:exactMatch SCTID:703531009 semapv:UnspecifiedMatching MONDO:0011512 Brooke-Spiegler syndrome skos:exactMatch UMLS:C1857941 semapv:UnspecifiedMatching MONDO:0011513 Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology skos:exactMatch MEDGEN:341884 semapv:UnspecifiedMatching MONDO:0011513 Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology skos:exactMatch OMIM:605055 alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology semapv:UnspecifiedMatching MONDO:0011513 Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology skos:exactMatch UMLS:C1857933 semapv:UnspecifiedMatching MONDO:0011513 Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology skos:exactMatch mesh:C565728 semapv:UnspecifiedMatching MONDO:0011514 tricuspid atresia skos:exactMatch DOID:0080169 tricuspid atresia semapv:UnspecifiedMatching MONDO:0011514 tricuspid atresia skos:exactMatch MEDGEN:67034 semapv:UnspecifiedMatching MONDO:0011514 tricuspid atresia skos:exactMatch NCIT:C85202 Tricuspid Valve Atresia semapv:UnspecifiedMatching MONDO:0011514 tricuspid atresia skos:exactMatch OMIM:605067 tricuspid atresia semapv:UnspecifiedMatching MONDO:0011514 tricuspid atresia skos:exactMatch Orphanet:1209 Tricuspid atresia semapv:UnspecifiedMatching MONDO:0011514 tricuspid atresia skos:exactMatch SCTID:63042009 semapv:UnspecifiedMatching MONDO:0011514 tricuspid atresia skos:exactMatch UMLS:C0243002 semapv:UnspecifiedMatching MONDO:0011514 tricuspid atresia skos:exactMatch icd11.foundation:845891723 Tricuspid atresia semapv:UnspecifiedMatching MONDO:0011514 tricuspid atresia skos:exactMatch mesh:D018785 semapv:UnspecifiedMatching MONDO:0011516 early response to neural induction gene skos:exactMatch MEDGEN:344332 semapv:UnspecifiedMatching MONDO:0011516 early response to neural induction gene skos:exactMatch OMIM:605105 early response to neural induction gene semapv:UnspecifiedMatching MONDO:0011516 early response to neural induction gene skos:exactMatch UMLS:C1854633 semapv:UnspecifiedMatching MONDO:0011517 pseudohyperaldosteronism type 2 skos:exactMatch MEDGEN:343170 semapv:UnspecifiedMatching MONDO:0011517 pseudohyperaldosteronism type 2 skos:exactMatch OMIM:605115 hypertension, early-onset, autosomal dominant, with severe exacerbation 1n pregnancy semapv:UnspecifiedMatching MONDO:0011517 pseudohyperaldosteronism type 2 skos:exactMatch Orphanet:88660 Hypertension due to gain-of-function mutations in the mineralocorticoid receptor semapv:UnspecifiedMatching MONDO:0011517 pseudohyperaldosteronism type 2 skos:exactMatch SCTID:766937004 semapv:UnspecifiedMatching MONDO:0011517 pseudohyperaldosteronism type 2 skos:exactMatch UMLS:C1854631 semapv:UnspecifiedMatching MONDO:0011517 pseudohyperaldosteronism type 2 skos:exactMatch icd11.foundation:538048714 Pseudohyperaldosteronism type 2 semapv:UnspecifiedMatching MONDO:0011517 pseudohyperaldosteronism type 2 skos:exactMatch mesh:C565359 semapv:UnspecifiedMatching MONDO:0011518 Wiedemann-Steiner syndrome skos:exactMatch MEDGEN:340266 semapv:UnspecifiedMatching MONDO:0011518 Wiedemann-Steiner syndrome skos:exactMatch OMIM:605130 wiedemann-steiner syndrome semapv:UnspecifiedMatching MONDO:0011518 Wiedemann-Steiner syndrome skos:exactMatch Orphanet:319182 Wiedemann-Steiner syndrome semapv:UnspecifiedMatching MONDO:0011518 Wiedemann-Steiner syndrome skos:exactMatch UMLS:C1854630 semapv:UnspecifiedMatching MONDO:0011518 Wiedemann-Steiner syndrome skos:exactMatch mesh:C536704 semapv:UnspecifiedMatching MONDO:0011519 autosomal dominant nonsyndromic hearing loss 23 skos:exactMatch DOID:0110553 autosomal dominant nonsyndromic deafness 23 semapv:UnspecifiedMatching MONDO:0011519 autosomal dominant nonsyndromic hearing loss 23 skos:exactMatch MEDGEN:343162 semapv:UnspecifiedMatching MONDO:0011519 autosomal dominant nonsyndromic hearing loss 23 skos:exactMatch OMIM:605192 deafness, autosomal dominant 23 semapv:UnspecifiedMatching MONDO:0011519 autosomal dominant nonsyndromic hearing loss 23 skos:exactMatch UMLS:C1854594 semapv:UnspecifiedMatching MONDO:0011519 autosomal dominant nonsyndromic hearing loss 23 skos:exactMatch mesh:C565357 semapv:UnspecifiedMatching MONDO:0011520 systemic lupus erythematosus, susceptibility to, 2 skos:exactMatch MEDGEN:343159 semapv:UnspecifiedMatching MONDO:0011520 systemic lupus erythematosus, susceptibility to, 2 skos:exactMatch OMIM:605218 systemic lupus erythematosus, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0011520 systemic lupus erythematosus, susceptibility to, 2 skos:exactMatch UMLS:C1854577 semapv:UnspecifiedMatching MONDO:0011521 inflammatory bowel disease 7 skos:exactMatch DOID:0110882 inflammatory bowel disease 7 semapv:UnspecifiedMatching MONDO:0011521 inflammatory bowel disease 7 skos:exactMatch MEDGEN:381452 semapv:UnspecifiedMatching MONDO:0011521 inflammatory bowel disease 7 skos:exactMatch OMIM:605225 inflammatory bowel disease 7 semapv:UnspecifiedMatching MONDO:0011521 inflammatory bowel disease 7 skos:exactMatch UMLS:C1854573 semapv:UnspecifiedMatching MONDO:0011521 inflammatory bowel disease 7 skos:exactMatch mesh:C565353 semapv:UnspecifiedMatching MONDO:0011522 hereditary spastic paraplegia 14 skos:exactMatch DOID:0110767 hereditary spastic paraplegia 14 semapv:UnspecifiedMatching MONDO:0011522 hereditary spastic paraplegia 14 skos:exactMatch MEDGEN:343157 semapv:UnspecifiedMatching MONDO:0011522 hereditary spastic paraplegia 14 skos:exactMatch OMIM:605229 spastic paraplegia 14, autosomal recessive semapv:UnspecifiedMatching MONDO:0011522 hereditary spastic paraplegia 14 skos:exactMatch Orphanet:100995 Autosomal recessive spastic paraplegia type 14 semapv:UnspecifiedMatching MONDO:0011522 hereditary spastic paraplegia 14 skos:exactMatch UMLS:C1854568 semapv:UnspecifiedMatching MONDO:0011522 hereditary spastic paraplegia 14 skos:exactMatch mesh:C537486 semapv:UnspecifiedMatching MONDO:0011523 Bardet-Biedl syndrome 6 skos:exactMatch DOID:0110128 Bardet-Biedl syndrome 6 semapv:UnspecifiedMatching MONDO:0011523 Bardet-Biedl syndrome 6 skos:exactMatch MEDGEN:347610 semapv:UnspecifiedMatching MONDO:0011523 Bardet-Biedl syndrome 6 skos:exactMatch OMIM:605231 bardet-biedl syndrome 6 semapv:UnspecifiedMatching MONDO:0011523 Bardet-Biedl syndrome 6 skos:exactMatch UMLS:C1858054 semapv:UnspecifiedMatching MONDO:0011523 Bardet-Biedl syndrome 6 skos:exactMatch mesh:C565738 semapv:UnspecifiedMatching MONDO:0011524 Dianzani autoimmune lymphoproliferative disease skos:exactMatch MEDGEN:418980 semapv:UnspecifiedMatching MONDO:0011524 Dianzani autoimmune lymphoproliferative disease skos:exactMatch OMIM:605233 dianzani autoimmune lymphoproliferative disease semapv:UnspecifiedMatching MONDO:0011524 Dianzani autoimmune lymphoproliferative disease skos:exactMatch Orphanet:275523 Dianzani autoimmune lymphoproliferative disease semapv:UnspecifiedMatching MONDO:0011524 Dianzani autoimmune lymphoproliferative disease skos:exactMatch SCTID:721093000 semapv:UnspecifiedMatching MONDO:0011524 Dianzani autoimmune lymphoproliferative disease skos:exactMatch UMLS:C2931071 semapv:UnspecifiedMatching MONDO:0011524 Dianzani autoimmune lymphoproliferative disease skos:exactMatch mesh:C535950 semapv:UnspecifiedMatching MONDO:0011525 Carney complex type 2 skos:exactMatch MEDGEN:340253 semapv:UnspecifiedMatching MONDO:0011525 Carney complex type 2 skos:exactMatch OMIM:605244 carney complex, type 2 semapv:UnspecifiedMatching MONDO:0011525 Carney complex type 2 skos:exactMatch UMLS:C1854540 semapv:UnspecifiedMatching MONDO:0011526 obsolete Sebastian syndrome skos:exactMatch NCIT:C131650 Sebastian Syndrome semapv:UnspecifiedMatching MONDO:0011527 Charcot-Marie-Tooth disease type 4E skos:exactMatch DOID:0110195 Charcot-Marie-Tooth disease type 4E semapv:UnspecifiedMatching MONDO:0011527 Charcot-Marie-Tooth disease type 4E skos:exactMatch MEDGEN:1648303 semapv:UnspecifiedMatching MONDO:0011527 Charcot-Marie-Tooth disease type 4E skos:exactMatch OMIM:605253 neuropathy, congenital hypomyelinating, 1, autosomal recessive semapv:UnspecifiedMatching MONDO:0011527 Charcot-Marie-Tooth disease type 4E skos:exactMatch Orphanet:99951 Charcot-Marie-Tooth disease type 4E semapv:UnspecifiedMatching MONDO:0011527 Charcot-Marie-Tooth disease type 4E skos:exactMatch SCTID:763135001 semapv:UnspecifiedMatching MONDO:0011527 Charcot-Marie-Tooth disease type 4E skos:exactMatch UMLS:C4721436 semapv:UnspecifiedMatching MONDO:0011527 Charcot-Marie-Tooth disease type 4E skos:exactMatch icd11.foundation:225958466 Charcot-Marie-Tooth disease type 4E semapv:UnspecifiedMatching MONDO:0011527 Charcot-Marie-Tooth disease type 4E skos:exactMatch mesh:C535301 semapv:UnspecifiedMatching MONDO:0011528 hyper-IgM syndrome type 2 skos:exactMatch DOID:0060758 immunodeficiency with hyper-IgM type 2 semapv:UnspecifiedMatching MONDO:0011528 hyper-IgM syndrome type 2 skos:exactMatch MEDGEN:354548 semapv:UnspecifiedMatching MONDO:0011528 hyper-IgM syndrome type 2 skos:exactMatch NCIT:C129074 Immunodeficiency with Hyper-IgM Type 2 semapv:UnspecifiedMatching MONDO:0011528 hyper-IgM syndrome type 2 skos:exactMatch OMIM:605258 immunodeficiency with hyper-igm, type 2 semapv:UnspecifiedMatching MONDO:0011528 hyper-IgM syndrome type 2 skos:exactMatch Orphanet:101089 Hyper-IgM syndrome type 2 semapv:UnspecifiedMatching MONDO:0011528 hyper-IgM syndrome type 2 skos:exactMatch SCTID:403836001 semapv:UnspecifiedMatching MONDO:0011528 hyper-IgM syndrome type 2 skos:exactMatch UMLS:C1720956 semapv:UnspecifiedMatching MONDO:0011529 spinocerebellar ataxia type 13 skos:exactMatch DOID:0050963 spinocerebellar ataxia 13 semapv:UnspecifiedMatching MONDO:0011529 spinocerebellar ataxia type 13 skos:exactMatch MEDGEN:344297 semapv:UnspecifiedMatching MONDO:0011529 spinocerebellar ataxia type 13 skos:exactMatch OMIM:605259 spinocerebellar ataxia 13 semapv:UnspecifiedMatching MONDO:0011529 spinocerebellar ataxia type 13 skos:exactMatch Orphanet:98768 Spinocerebellar ataxia type 13 semapv:UnspecifiedMatching MONDO:0011529 spinocerebellar ataxia type 13 skos:exactMatch SCTID:719209002 semapv:UnspecifiedMatching MONDO:0011529 spinocerebellar ataxia type 13 skos:exactMatch UMLS:C1854488 semapv:UnspecifiedMatching MONDO:0011529 spinocerebellar ataxia type 13 skos:exactMatch icd11.foundation:1191033828 Spinocerebellar ataxia type 13 semapv:UnspecifiedMatching MONDO:0011529 spinocerebellar ataxia type 13 skos:exactMatch mesh:C537195 semapv:UnspecifiedMatching MONDO:0011530 mesomelic dysplasia, Savarirayan type skos:exactMatch MEDGEN:343129 semapv:UnspecifiedMatching MONDO:0011530 mesomelic dysplasia, Savarirayan type skos:exactMatch OMIM:605274 mesomelic dysplasia, savarirayan type semapv:UnspecifiedMatching MONDO:0011530 mesomelic dysplasia, Savarirayan type skos:exactMatch Orphanet:85170 Mesomelic dysplasia, Savarirayan type semapv:UnspecifiedMatching MONDO:0011530 mesomelic dysplasia, Savarirayan type skos:exactMatch SCTID:715652002 semapv:UnspecifiedMatching MONDO:0011530 mesomelic dysplasia, Savarirayan type skos:exactMatch UMLS:C1854470 semapv:UnspecifiedMatching MONDO:0011530 mesomelic dysplasia, Savarirayan type skos:exactMatch icd11.foundation:1627637820 Mesomelic dysplasia, Savarirayan type semapv:UnspecifiedMatching MONDO:0011530 mesomelic dysplasia, Savarirayan type skos:exactMatch mesh:C565349 semapv:UnspecifiedMatching MONDO:0011531 Noonan syndrome 2 skos:exactMatch DOID:0060580 Noonan syndrome 2 semapv:UnspecifiedMatching MONDO:0011531 Noonan syndrome 2 skos:exactMatch MEDGEN:344290 semapv:UnspecifiedMatching MONDO:0011531 Noonan syndrome 2 skos:exactMatch NCIT:C176930 Noonan Syndrome 2 semapv:UnspecifiedMatching MONDO:0011531 Noonan syndrome 2 skos:exactMatch OMIM:605275 noonan syndrome 2 semapv:UnspecifiedMatching MONDO:0011531 Noonan syndrome 2 skos:exactMatch UMLS:C1854469 semapv:UnspecifiedMatching MONDO:0011531 Noonan syndrome 2 skos:exactMatch mesh:C548081 semapv:UnspecifiedMatching MONDO:0011532 hereditary spastic paraplegia 13 skos:exactMatch DOID:0110766 hereditary spastic paraplegia 13 semapv:UnspecifiedMatching MONDO:0011532 hereditary spastic paraplegia 13 skos:exactMatch MEDGEN:344289 semapv:UnspecifiedMatching MONDO:0011532 hereditary spastic paraplegia 13 skos:exactMatch OMIM:605280 spastic paraplegia 13, autosomal dominant semapv:UnspecifiedMatching MONDO:0011532 hereditary spastic paraplegia 13 skos:exactMatch Orphanet:100994 Autosomal dominant spastic paraplegia type 13 semapv:UnspecifiedMatching MONDO:0011532 hereditary spastic paraplegia 13 skos:exactMatch UMLS:C1854467 semapv:UnspecifiedMatching MONDO:0011532 hereditary spastic paraplegia 13 skos:exactMatch mesh:C537485 semapv:UnspecifiedMatching MONDO:0011533 temtamy preaxial brachydactyly syndrome skos:exactMatch DOID:0050814 temtamy preaxial brachydactyly syndrome semapv:UnspecifiedMatching MONDO:0011533 temtamy preaxial brachydactyly syndrome skos:exactMatch MEDGEN:381425 semapv:UnspecifiedMatching MONDO:0011533 temtamy preaxial brachydactyly syndrome skos:exactMatch OMIM:605282 temtamy preaxial brachydactyly syndrome semapv:UnspecifiedMatching MONDO:0011533 temtamy preaxial brachydactyly syndrome skos:exactMatch Orphanet:363417 Temtamy preaxial brachydactyly syndrome semapv:UnspecifiedMatching MONDO:0011533 temtamy preaxial brachydactyly syndrome skos:exactMatch UMLS:C1854466 semapv:UnspecifiedMatching MONDO:0011533 temtamy preaxial brachydactyly syndrome skos:exactMatch mesh:C536958 semapv:UnspecifiedMatching MONDO:0011534 Charcot-Marie-Tooth disease type 4G skos:exactMatch DOID:0110196 Charcot-Marie-Tooth disease type 4G semapv:UnspecifiedMatching MONDO:0011534 Charcot-Marie-Tooth disease type 4G skos:exactMatch MEDGEN:343122 semapv:UnspecifiedMatching MONDO:0011534 Charcot-Marie-Tooth disease type 4G skos:exactMatch OMIM:605285 neuropathy, hereditary motor and sensory, russe type semapv:UnspecifiedMatching MONDO:0011534 Charcot-Marie-Tooth disease type 4G skos:exactMatch Orphanet:99953 Charcot-Marie-Tooth disease type 4G semapv:UnspecifiedMatching MONDO:0011534 Charcot-Marie-Tooth disease type 4G skos:exactMatch SCTID:715799004 semapv:UnspecifiedMatching MONDO:0011534 Charcot-Marie-Tooth disease type 4G skos:exactMatch UMLS:C1854449 semapv:UnspecifiedMatching MONDO:0011534 Charcot-Marie-Tooth disease type 4G skos:exactMatch icd11.foundation:995395080 Charcot-Marie-Tooth disease type 4G semapv:UnspecifiedMatching MONDO:0011534 Charcot-Marie-Tooth disease type 4G skos:exactMatch mesh:C535813 semapv:UnspecifiedMatching MONDO:0011535 split hand-foot malformation 4 skos:exactMatch DOID:0090023 split hand-foot malformation 4 semapv:UnspecifiedMatching MONDO:0011535 split hand-foot malformation 4 skos:exactMatch MEDGEN:343120 semapv:UnspecifiedMatching MONDO:0011535 split hand-foot malformation 4 skos:exactMatch OMIM:605289 split-hand/foot malformation 4 semapv:UnspecifiedMatching MONDO:0011535 split hand-foot malformation 4 skos:exactMatch UMLS:C1854442 semapv:UnspecifiedMatching MONDO:0011535 split hand-foot malformation 4 skos:exactMatch mesh:C565344 semapv:UnspecifiedMatching MONDO:0011536 optic atrophy 4 skos:exactMatch DOID:0111440 optic atrophy 4 semapv:UnspecifiedMatching MONDO:0011536 optic atrophy 4 skos:exactMatch MEDGEN:340236 semapv:UnspecifiedMatching MONDO:0011536 optic atrophy 4 skos:exactMatch OMIM:605293 optic atrophy 4 semapv:UnspecifiedMatching MONDO:0011536 optic atrophy 4 skos:exactMatch UMLS:C1854430 semapv:UnspecifiedMatching MONDO:0011536 optic atrophy 4 skos:exactMatch mesh:C565343 semapv:UnspecifiedMatching MONDO:0011537 macrocephaly-autism syndrome skos:exactMatch DOID:0060867 macrocephaly-autism syndrome semapv:UnspecifiedMatching MONDO:0011537 macrocephaly-autism syndrome skos:exactMatch MEDGEN:381416 semapv:UnspecifiedMatching MONDO:0011537 macrocephaly-autism syndrome skos:exactMatch OMIM:605309 macrocephaly/autism syndrome semapv:UnspecifiedMatching MONDO:0011537 macrocephaly-autism syndrome skos:exactMatch Orphanet:210548 Macrocephaly-intellectual disability-autism syndrome semapv:UnspecifiedMatching MONDO:0011537 macrocephaly-autism syndrome skos:exactMatch UMLS:C1854416 semapv:UnspecifiedMatching MONDO:0011537 macrocephaly-autism syndrome skos:exactMatch mesh:C565342 semapv:UnspecifiedMatching MONDO:0011538 frontoocular syndrome skos:exactMatch MEDGEN:344278 semapv:UnspecifiedMatching MONDO:0011538 frontoocular syndrome skos:exactMatch OMIM:605321 frontoocular syndrome semapv:UnspecifiedMatching MONDO:0011538 frontoocular syndrome skos:exactMatch UMLS:C1854405 semapv:UnspecifiedMatching MONDO:0011538 frontoocular syndrome skos:exactMatch mesh:C565340 semapv:UnspecifiedMatching MONDO:0011539 nemaline myopathy 5 skos:exactMatch DOID:0110936 nemaline myopathy 5A semapv:UnspecifiedMatching MONDO:0011539 nemaline myopathy 5 skos:exactMatch MEDGEN:344273 semapv:UnspecifiedMatching MONDO:0011539 nemaline myopathy 5 skos:exactMatch OMIM:605355 nemaline myopathy 5a, autosomal recessive, severe infantile semapv:UnspecifiedMatching MONDO:0011539 nemaline myopathy 5 skos:exactMatch Orphanet:98902 Amish nemaline myopathy semapv:UnspecifiedMatching MONDO:0011539 nemaline myopathy 5 skos:exactMatch UMLS:C1854380 semapv:UnspecifiedMatching MONDO:0011539 nemaline myopathy 5 skos:exactMatch mesh:C538397 semapv:UnspecifiedMatching MONDO:0011540 spinocerebellar ataxia type 14 skos:exactMatch DOID:0050964 spinocerebellar ataxia 14 semapv:UnspecifiedMatching MONDO:0011540 spinocerebellar ataxia type 14 skos:exactMatch MEDGEN:343106 semapv:UnspecifiedMatching MONDO:0011540 spinocerebellar ataxia type 14 skos:exactMatch OMIM:605361 spinocerebellar ataxia 14 semapv:UnspecifiedMatching MONDO:0011540 spinocerebellar ataxia type 14 skos:exactMatch Orphanet:98763 Spinocerebellar ataxia type 14 semapv:UnspecifiedMatching MONDO:0011540 spinocerebellar ataxia type 14 skos:exactMatch SCTID:719210007 semapv:UnspecifiedMatching MONDO:0011540 spinocerebellar ataxia type 14 skos:exactMatch UMLS:C1854369 semapv:UnspecifiedMatching MONDO:0011540 spinocerebellar ataxia type 14 skos:exactMatch icd11.foundation:736357100 Spinocerebellar ataxia type 14 semapv:UnspecifiedMatching MONDO:0011540 spinocerebellar ataxia type 14 skos:exactMatch mesh:C537196 semapv:UnspecifiedMatching MONDO:0011541 dilated cardiomyopathy 1J skos:exactMatch DOID:0110440 dilated cardiomyopathy 1J semapv:UnspecifiedMatching MONDO:0011541 dilated cardiomyopathy 1J skos:exactMatch MEDGEN:343105 semapv:UnspecifiedMatching MONDO:0011541 dilated cardiomyopathy 1J skos:exactMatch OMIM:605362 cardiomyopathy, dilated, 1j semapv:UnspecifiedMatching MONDO:0011541 dilated cardiomyopathy 1J skos:exactMatch Orphanet:217622 Sensorineural deafness with dilated cardiomyopathy semapv:UnspecifiedMatching MONDO:0011541 dilated cardiomyopathy 1J skos:exactMatch UMLS:C1854368 semapv:UnspecifiedMatching MONDO:0011541 dilated cardiomyopathy 1J skos:exactMatch mesh:C565337 semapv:UnspecifiedMatching MONDO:0011542 psoriasis 6, susceptibility to skos:exactMatch DOID:0111290 psoriasis 6 semapv:UnspecifiedMatching MONDO:0011542 psoriasis 6, susceptibility to skos:exactMatch MEDGEN:343103 semapv:UnspecifiedMatching MONDO:0011542 psoriasis 6, susceptibility to skos:exactMatch OMIM:605364 psoriasis 6, susceptibility to semapv:UnspecifiedMatching MONDO:0011542 psoriasis 6, susceptibility to skos:exactMatch UMLS:C1854366 semapv:UnspecifiedMatching MONDO:0011543 obsolete BRCA3 skos:exactMatch OMIM:605365 semapv:UnspecifiedMatching MONDO:0011543 obsolete BRCA3 skos:exactMatch mesh:C565336 semapv:UnspecifiedMatching MONDO:0011544 pheochromocytoma/paraganglioma syndrome 3 skos:exactMatch DOID:0061218 pheochromocytoma/paraganglioma syndrome 3 semapv:UnspecifiedMatching MONDO:0011544 pheochromocytoma/paraganglioma syndrome 3 skos:exactMatch MEDGEN:340200 semapv:UnspecifiedMatching MONDO:0011544 pheochromocytoma/paraganglioma syndrome 3 skos:exactMatch OMIM:605373 pheochromocytoma/paraganglioma syndrome 3 semapv:UnspecifiedMatching MONDO:0011544 pheochromocytoma/paraganglioma syndrome 3 skos:exactMatch UMLS:C1854336 semapv:UnspecifiedMatching MONDO:0011544 pheochromocytoma/paraganglioma syndrome 3 skos:exactMatch mesh:C565335 semapv:UnspecifiedMatching MONDO:0011545 autosomal dominant nocturnal frontal lobe epilepsy 3 skos:exactMatch DOID:0060684 autosomal dominant nocturnal frontal lobe epilepsy 3 semapv:UnspecifiedMatching MONDO:0011545 autosomal dominant nocturnal frontal lobe epilepsy 3 skos:exactMatch MEDGEN:344263 semapv:UnspecifiedMatching MONDO:0011545 autosomal dominant nocturnal frontal lobe epilepsy 3 skos:exactMatch OMIM:605375 epilepsy, nocturnal frontal lobe, 3 semapv:UnspecifiedMatching MONDO:0011545 autosomal dominant nocturnal frontal lobe epilepsy 3 skos:exactMatch UMLS:C1854335 semapv:UnspecifiedMatching MONDO:0011545 autosomal dominant nocturnal frontal lobe epilepsy 3 skos:exactMatch mesh:C565334 semapv:UnspecifiedMatching MONDO:0011546 heterotaxy, visceral, 2, autosomal skos:exactMatch DOID:0051017 visceral heterotaxy 2 semapv:UnspecifiedMatching MONDO:0011546 heterotaxy, visceral, 2, autosomal skos:exactMatch MEDGEN:237904 semapv:UnspecifiedMatching MONDO:0011546 heterotaxy, visceral, 2, autosomal skos:exactMatch OMIM:605376 heterotaxy, visceral, 2, autosomal semapv:UnspecifiedMatching MONDO:0011546 heterotaxy, visceral, 2, autosomal skos:exactMatch UMLS:C1415817 semapv:UnspecifiedMatching MONDO:0011547 cataract 31 multiple types skos:exactMatch DOID:0110265 cataract 31 multiple types semapv:UnspecifiedMatching MONDO:0011547 cataract 31 multiple types skos:exactMatch MEDGEN:343089 semapv:UnspecifiedMatching MONDO:0011547 cataract 31 multiple types skos:exactMatch OMIM:605387 cataract 31, multiple types semapv:UnspecifiedMatching MONDO:0011547 cataract 31 multiple types skos:exactMatch UMLS:C1854311 semapv:UnspecifiedMatching MONDO:0011547 cataract 31 multiple types skos:exactMatch mesh:C535343 semapv:UnspecifiedMatching MONDO:0011548 cerebral palsy, ataxic, autosomal recessive skos:exactMatch OMIM:605388 cerebral palsy, ataxic, autosomal recessive semapv:UnspecifiedMatching MONDO:0011549 hypotrichosis 1 skos:exactMatch DOID:0110698 hypotrichosis 1 semapv:UnspecifiedMatching MONDO:0011549 hypotrichosis 1 skos:exactMatch MEDGEN:1644234 semapv:UnspecifiedMatching MONDO:0011549 hypotrichosis 1 skos:exactMatch OMIM:605389 hypotrichosis 1 semapv:UnspecifiedMatching MONDO:0011549 hypotrichosis 1 skos:exactMatch UMLS:C4551976 semapv:UnspecifiedMatching MONDO:0011550 fibromatosis, gingival, with hypertrichosis and intellectual disability skos:exactMatch MEDGEN:344255 semapv:UnspecifiedMatching MONDO:0011550 fibromatosis, gingival, with hypertrichosis and intellectual disability skos:exactMatch OMIM:605400 fibromatosis, gingival, with hypertrichosis and impaired intellectual development semapv:UnspecifiedMatching MONDO:0011550 fibromatosis, gingival, with hypertrichosis and intellectual disability skos:exactMatch UMLS:C1854306 semapv:UnspecifiedMatching MONDO:0011550 fibromatosis, gingival, with hypertrichosis and intellectual disability skos:exactMatch mesh:C565331 semapv:UnspecifiedMatching MONDO:0011551 TH-deficient dopa-responsive dystonia skos:exactMatch DOID:0051059 autosomal recessive Segawa syndrome semapv:UnspecifiedMatching MONDO:0011551 TH-deficient dopa-responsive dystonia skos:exactMatch MEDGEN:382128 semapv:UnspecifiedMatching MONDO:0011551 TH-deficient dopa-responsive dystonia skos:exactMatch OMIM:605407 segawa syndrome, autosomal recessive semapv:UnspecifiedMatching MONDO:0011551 TH-deficient dopa-responsive dystonia skos:exactMatch Orphanet:101150 Autosomal recessive dopa-responsive dystonia semapv:UnspecifiedMatching MONDO:0011551 TH-deficient dopa-responsive dystonia skos:exactMatch SCTID:715827001 semapv:UnspecifiedMatching MONDO:0011551 TH-deficient dopa-responsive dystonia skos:exactMatch UMLS:C2673535 semapv:UnspecifiedMatching MONDO:0011552 schizophrenia 10 skos:exactMatch DOID:0070086 schizophrenia 10 semapv:UnspecifiedMatching MONDO:0011552 schizophrenia 10 skos:exactMatch MEDGEN:107776 semapv:UnspecifiedMatching MONDO:0011552 schizophrenia 10 skos:exactMatch OMIM:605419 schizophrenia 10 semapv:UnspecifiedMatching MONDO:0011552 schizophrenia 10 skos:exactMatch UMLS:C0543918 semapv:UnspecifiedMatching MONDO:0011552 schizophrenia 10 skos:exactMatch mesh:D012560 semapv:UnspecifiedMatching MONDO:0011553 autosomal recessive nonsyndromic hearing loss 26 skos:exactMatch DOID:0110484 autosomal recessive nonsyndromic deafness 26 semapv:UnspecifiedMatching MONDO:0011553 autosomal recessive nonsyndromic hearing loss 26 skos:exactMatch MEDGEN:340185 semapv:UnspecifiedMatching MONDO:0011553 autosomal recessive nonsyndromic hearing loss 26 skos:exactMatch OMIM:605428 deafness, autosomal recessive 26 semapv:UnspecifiedMatching MONDO:0011553 autosomal recessive nonsyndromic hearing loss 26 skos:exactMatch UMLS:C1854275 semapv:UnspecifiedMatching MONDO:0011553 autosomal recessive nonsyndromic hearing loss 26 skos:exactMatch mesh:C565329 semapv:UnspecifiedMatching MONDO:0011554 obsolete deafness, nonsyndromic, modifier 1 skos:exactMatch OMIM:605429 deafness, autosomal recessive 26, modifier of semapv:UnspecifiedMatching MONDO:0011555 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome skos:exactMatch MEDGEN:340183 semapv:UnspecifiedMatching MONDO:0011555 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome skos:exactMatch OMIMPS:605432 Radioulnar synostosis with amegakaryocytic thrombocytopenia semapv:UnspecifiedMatching MONDO:0011555 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome skos:exactMatch Orphanet:71289 Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome semapv:UnspecifiedMatching MONDO:0011555 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome skos:exactMatch SCTID:721882001 semapv:UnspecifiedMatching MONDO:0011555 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome skos:exactMatch UMLS:C1854273 semapv:UnspecifiedMatching MONDO:0011555 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome skos:exactMatch mesh:C565328 semapv:UnspecifiedMatching MONDO:0011556 basal cell carcinoma, susceptibility to, 1 skos:exactMatch MEDGEN:414403 semapv:UnspecifiedMatching MONDO:0011556 basal cell carcinoma, susceptibility to, 1 skos:exactMatch OMIM:605462 basal cell carcinoma, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0011556 basal cell carcinoma, susceptibility to, 1 skos:exactMatch UMLS:C2751544 semapv:UnspecifiedMatching MONDO:0011557 radiation sensitivity/chromosome instability syndrome, autosomal dominant skos:exactMatch MEDGEN:343082 semapv:UnspecifiedMatching MONDO:0011557 radiation sensitivity/chromosome instability syndrome, autosomal dominant skos:exactMatch OMIM:605463 radiation sensitivity/chromosome instability syndrome, autosomal dominant semapv:UnspecifiedMatching MONDO:0011557 radiation sensitivity/chromosome instability syndrome, autosomal dominant skos:exactMatch UMLS:C1854244 semapv:UnspecifiedMatching MONDO:0011557 radiation sensitivity/chromosome instability syndrome, autosomal dominant skos:exactMatch mesh:C565326 semapv:UnspecifiedMatching MONDO:0011558 Usher syndrome type 2C skos:exactMatch DOID:0110839 Usher syndrome type 2C semapv:UnspecifiedMatching MONDO:0011558 Usher syndrome type 2C skos:exactMatch MEDGEN:419359 semapv:UnspecifiedMatching MONDO:0011558 Usher syndrome type 2C skos:exactMatch NCIT:C153174 Usher Syndrome Type 2C semapv:UnspecifiedMatching MONDO:0011558 Usher syndrome type 2C skos:exactMatch OMIM:605472 usher syndrome, type 2c semapv:UnspecifiedMatching MONDO:0011558 Usher syndrome type 2C skos:exactMatch UMLS:C2931213 semapv:UnspecifiedMatching MONDO:0011558 Usher syndrome type 2C skos:exactMatch mesh:C536492 semapv:UnspecifiedMatching MONDO:0011559 benign recurrent intrahepatic cholestasis type 2 skos:exactMatch DOID:0070232 benign recurrent intrahepatic cholestasis 2 semapv:UnspecifiedMatching MONDO:0011559 benign recurrent intrahepatic cholestasis type 2 skos:exactMatch MEDGEN:435857 semapv:UnspecifiedMatching MONDO:0011559 benign recurrent intrahepatic cholestasis type 2 skos:exactMatch OMIM:605479 cholestasis, benign recurrent intrahepatic, 2 semapv:UnspecifiedMatching MONDO:0011559 benign recurrent intrahepatic cholestasis type 2 skos:exactMatch Orphanet:99961 Benign recurrent intrahepatic cholestasis type 2 semapv:UnspecifiedMatching MONDO:0011559 benign recurrent intrahepatic cholestasis type 2 skos:exactMatch UMLS:C2608083 semapv:UnspecifiedMatching MONDO:0011559 benign recurrent intrahepatic cholestasis type 2 skos:exactMatch mesh:C535934 semapv:UnspecifiedMatching MONDO:0011560 systemic lupus erythematosus, susceptibility to, 3 skos:exactMatch MEDGEN:381377 semapv:UnspecifiedMatching MONDO:0011560 systemic lupus erythematosus, susceptibility to, 3 skos:exactMatch OMIM:605480 systemic lupus erythematosus, susceptibility to, 3 semapv:UnspecifiedMatching MONDO:0011560 systemic lupus erythematosus, susceptibility to, 3 skos:exactMatch UMLS:C1854235 semapv:UnspecifiedMatching MONDO:0011561 Alzheimer disease 6 skos:exactMatch DOID:0110038 Alzheimer's disease 6 semapv:UnspecifiedMatching MONDO:0011561 Alzheimer disease 6 skos:exactMatch MEDGEN:381362 semapv:UnspecifiedMatching MONDO:0011561 Alzheimer disease 6 skos:exactMatch OMIM:605526 alzheimer disease 6 semapv:UnspecifiedMatching MONDO:0011561 Alzheimer disease 6 skos:exactMatch UMLS:C1854187 semapv:UnspecifiedMatching MONDO:0011561 Alzheimer disease 6 skos:exactMatch mesh:C565325 semapv:UnspecifiedMatching MONDO:0011562 autosomal dominant Parkinson disease 4 skos:exactMatch DOID:0060895 Parkinson's disease 4 semapv:UnspecifiedMatching MONDO:0011562 autosomal dominant Parkinson disease 4 skos:exactMatch MEDGEN:381361 semapv:UnspecifiedMatching MONDO:0011562 autosomal dominant Parkinson disease 4 skos:exactMatch OMIM:605543 parkinson disease 4, autosomal dominant semapv:UnspecifiedMatching MONDO:0011562 autosomal dominant Parkinson disease 4 skos:exactMatch UMLS:C1854182 semapv:UnspecifiedMatching MONDO:0011562 autosomal dominant Parkinson disease 4 skos:exactMatch mesh:C565324 semapv:UnspecifiedMatching MONDO:0011563 fibromatosis, gingival, 2 skos:exactMatch MEDGEN:344226 semapv:UnspecifiedMatching MONDO:0011563 fibromatosis, gingival, 2 skos:exactMatch OMIM:605544 fibromatosis, gingival, 2 semapv:UnspecifiedMatching MONDO:0011563 fibromatosis, gingival, 2 skos:exactMatch UMLS:C1854181 semapv:UnspecifiedMatching MONDO:0011563 fibromatosis, gingival, 2 skos:exactMatch mesh:C565323 semapv:UnspecifiedMatching MONDO:0011564 cone-rod dystrophy 8 skos:exactMatch DOID:0111014 cone-rod dystrophy 8 semapv:UnspecifiedMatching MONDO:0011564 cone-rod dystrophy 8 skos:exactMatch MEDGEN:381360 semapv:UnspecifiedMatching MONDO:0011564 cone-rod dystrophy 8 skos:exactMatch OMIM:605549 cone-rod dystrophy 8 semapv:UnspecifiedMatching MONDO:0011564 cone-rod dystrophy 8 skos:exactMatch UMLS:C1854180 semapv:UnspecifiedMatching MONDO:0011564 cone-rod dystrophy 8 skos:exactMatch mesh:C565322 semapv:UnspecifiedMatching MONDO:0011565 metabolic syndrome X skos:exactMatch DOID:14221 abdominal obesity-metabolic syndrome 1 semapv:UnspecifiedMatching MONDO:0011565 metabolic syndrome X skos:exactMatch MEDGEN:1640883 semapv:UnspecifiedMatching MONDO:0011565 metabolic syndrome X skos:exactMatch OMIM:605552 abdominal obesity-metabolic syndrome 1 semapv:UnspecifiedMatching MONDO:0011565 metabolic syndrome X skos:exactMatch SCTID:237602007 semapv:UnspecifiedMatching MONDO:0011565 metabolic syndrome X skos:exactMatch UMLS:C4552048 semapv:UnspecifiedMatching MONDO:0011565 metabolic syndrome X skos:exactMatch mesh:D024821 semapv:UnspecifiedMatching MONDO:0011566 abdominal obesity-metabolic syndrome quantitative trait locus 2 skos:exactMatch MEDGEN:344224 semapv:UnspecifiedMatching MONDO:0011566 abdominal obesity-metabolic syndrome quantitative trait locus 2 skos:exactMatch OMIM:605572 abdominal obesity-metabolic syndrome quantitative trait locus 2 semapv:UnspecifiedMatching MONDO:0011566 abdominal obesity-metabolic syndrome quantitative trait locus 2 skos:exactMatch UMLS:C1854170 semapv:UnspecifiedMatching MONDO:0011567 dilated cardiomyopathy 1K skos:exactMatch DOID:0110437 dilated cardiomyopathy 1K semapv:UnspecifiedMatching MONDO:0011567 dilated cardiomyopathy 1K skos:exactMatch MEDGEN:381354 semapv:UnspecifiedMatching MONDO:0011567 dilated cardiomyopathy 1K skos:exactMatch OMIM:605582 cardiomyopathy, dilated, 1k semapv:UnspecifiedMatching MONDO:0011567 dilated cardiomyopathy 1K skos:exactMatch UMLS:C1854159 semapv:UnspecifiedMatching MONDO:0011567 dilated cardiomyopathy 1K skos:exactMatch mesh:C565320 semapv:UnspecifiedMatching MONDO:0011568 autosomal dominant nonsyndromic hearing loss 25 skos:exactMatch DOID:0110555 autosomal dominant nonsyndromic deafness 25 semapv:UnspecifiedMatching MONDO:0011568 autosomal dominant nonsyndromic hearing loss 25 skos:exactMatch MEDGEN:344221 semapv:UnspecifiedMatching MONDO:0011568 autosomal dominant nonsyndromic hearing loss 25 skos:exactMatch OMIM:605583 deafness, autosomal dominant 25 semapv:UnspecifiedMatching MONDO:0011568 autosomal dominant nonsyndromic hearing loss 25 skos:exactMatch UMLS:C1854158 semapv:UnspecifiedMatching MONDO:0011568 autosomal dominant nonsyndromic hearing loss 25 skos:exactMatch mesh:C565319 semapv:UnspecifiedMatching MONDO:0011569 Charcot-Marie-Tooth disease type 2B1 skos:exactMatch DOID:0110156 Charcot-Marie-Tooth disease type 2B1 semapv:UnspecifiedMatching MONDO:0011569 Charcot-Marie-Tooth disease type 2B1 skos:exactMatch MEDGEN:343064 semapv:UnspecifiedMatching MONDO:0011569 Charcot-Marie-Tooth disease type 2B1 skos:exactMatch OMIM:605588 charcot-marie-tooth disease, axonal, type 2b1 semapv:UnspecifiedMatching MONDO:0011569 Charcot-Marie-Tooth disease type 2B1 skos:exactMatch Orphanet:98856 Charcot-Marie-Tooth disease type 2B1 semapv:UnspecifiedMatching MONDO:0011569 Charcot-Marie-Tooth disease type 2B1 skos:exactMatch SCTID:725048002 semapv:UnspecifiedMatching MONDO:0011569 Charcot-Marie-Tooth disease type 2B1 skos:exactMatch UMLS:C1854154 semapv:UnspecifiedMatching MONDO:0011569 Charcot-Marie-Tooth disease type 2B1 skos:exactMatch icd11.foundation:957134152 Charcot-Marie-Tooth disease type 2B1 semapv:UnspecifiedMatching MONDO:0011569 Charcot-Marie-Tooth disease type 2B1 skos:exactMatch mesh:C537990 semapv:UnspecifiedMatching MONDO:0011570 Charcot-Marie-Tooth disease type 2B2 skos:exactMatch DOID:0110179 Charcot-Marie-Tooth disease type 2B2 semapv:UnspecifiedMatching MONDO:0011570 Charcot-Marie-Tooth disease type 2B2 skos:exactMatch MEDGEN:381352 semapv:UnspecifiedMatching MONDO:0011570 Charcot-Marie-Tooth disease type 2B2 skos:exactMatch OMIM:605589 charcot-marie-tooth disease, axonal, type 2b2 semapv:UnspecifiedMatching MONDO:0011570 Charcot-Marie-Tooth disease type 2B2 skos:exactMatch Orphanet:101101 Charcot-Marie-Tooth disease type 2B2 semapv:UnspecifiedMatching MONDO:0011570 Charcot-Marie-Tooth disease type 2B2 skos:exactMatch SCTID:719981005 semapv:UnspecifiedMatching MONDO:0011570 Charcot-Marie-Tooth disease type 2B2 skos:exactMatch UMLS:C1854150 semapv:UnspecifiedMatching MONDO:0011570 Charcot-Marie-Tooth disease type 2B2 skos:exactMatch icd11.foundation:2009111705 Charcot-Marie-Tooth disease type 2B2 semapv:UnspecifiedMatching MONDO:0011570 Charcot-Marie-Tooth disease type 2B2 skos:exactMatch mesh:C537991 semapv:UnspecifiedMatching MONDO:0011571 deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 skos:exactMatch MEDGEN:340145 semapv:UnspecifiedMatching MONDO:0011571 deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 skos:exactMatch OMIM:605594 deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 semapv:UnspecifiedMatching MONDO:0011571 deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 skos:exactMatch UMLS:C1854146 semapv:UnspecifiedMatching MONDO:0011571 deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 skos:exactMatch mesh:C565316 semapv:UnspecifiedMatching MONDO:0011572 type 1 diabetes mellitus 18 skos:exactMatch DOID:0110755 type 1 diabetes mellitus 18 semapv:UnspecifiedMatching MONDO:0011572 type 1 diabetes mellitus 18 skos:exactMatch MEDGEN:344213 semapv:UnspecifiedMatching MONDO:0011572 type 1 diabetes mellitus 18 skos:exactMatch OMIM:605598 type 1 diabetes mellitus 18 semapv:UnspecifiedMatching MONDO:0011572 type 1 diabetes mellitus 18 skos:exactMatch UMLS:C1854125 semapv:UnspecifiedMatching MONDO:0011572 type 1 diabetes mellitus 18 skos:exactMatch mesh:C565315 semapv:UnspecifiedMatching MONDO:0011573 psoriasis 7, susceptibility to skos:exactMatch DOID:0111279 psoriasis 7 semapv:UnspecifiedMatching MONDO:0011573 psoriasis 7, susceptibility to skos:exactMatch MEDGEN:343057 semapv:UnspecifiedMatching MONDO:0011573 psoriasis 7, susceptibility to skos:exactMatch OMIM:605606 psoriasis 7, susceptibility to semapv:UnspecifiedMatching MONDO:0011573 psoriasis 7, susceptibility to skos:exactMatch UMLS:C1854124 semapv:UnspecifiedMatching MONDO:0011574 tetralogy of fallot syndrome, autosomal recessive skos:exactMatch MEDGEN:381344 semapv:UnspecifiedMatching MONDO:0011574 tetralogy of fallot syndrome, autosomal recessive skos:exactMatch OMIM:605618 tetralogy of fallot syndrome, autosomal recessive semapv:UnspecifiedMatching MONDO:0011574 tetralogy of fallot syndrome, autosomal recessive skos:exactMatch UMLS:C1854119 semapv:UnspecifiedMatching MONDO:0011574 tetralogy of fallot syndrome, autosomal recessive skos:exactMatch mesh:C565314 semapv:UnspecifiedMatching MONDO:0011575 cerebrooculonasal syndrome skos:exactMatch MEDGEN:340138 semapv:UnspecifiedMatching MONDO:0011575 cerebrooculonasal syndrome skos:exactMatch OMIM:605627 cerebrooculonasal syndrome semapv:UnspecifiedMatching MONDO:0011575 cerebrooculonasal syndrome skos:exactMatch Orphanet:66625 Cerebrooculonasal syndrome semapv:UnspecifiedMatching MONDO:0011575 cerebrooculonasal syndrome skos:exactMatch SCTID:720855003 semapv:UnspecifiedMatching MONDO:0011575 cerebrooculonasal syndrome skos:exactMatch UMLS:C1854108 semapv:UnspecifiedMatching MONDO:0011575 cerebrooculonasal syndrome skos:exactMatch mesh:C565313 semapv:UnspecifiedMatching MONDO:0011576 familial hyperaldosteronism type II skos:exactMatch MEDGEN:340137 semapv:UnspecifiedMatching MONDO:0011576 familial hyperaldosteronism type II skos:exactMatch NCIT:C127162 Familial Hyperaldosteronism Type 2 semapv:UnspecifiedMatching MONDO:0011576 familial hyperaldosteronism type II skos:exactMatch OMIM:605635 hyperaldosteronism, familial, type 2 semapv:UnspecifiedMatching MONDO:0011576 familial hyperaldosteronism type II skos:exactMatch Orphanet:404 Familial hyperaldosteronism type II semapv:UnspecifiedMatching MONDO:0011576 familial hyperaldosteronism type II skos:exactMatch SCTID:703233008 semapv:UnspecifiedMatching MONDO:0011576 familial hyperaldosteronism type II skos:exactMatch UMLS:C1854107 semapv:UnspecifiedMatching MONDO:0011576 familial hyperaldosteronism type II skos:exactMatch mesh:C565312 semapv:UnspecifiedMatching MONDO:0011577 myopathy, proximal, and ophthalmoplegia skos:exactMatch DOID:0080719 congenital myopathy 6 semapv:UnspecifiedMatching MONDO:0011577 myopathy, proximal, and ophthalmoplegia skos:exactMatch MEDGEN:381340 semapv:UnspecifiedMatching MONDO:0011577 myopathy, proximal, and ophthalmoplegia skos:exactMatch OMIM:605637 congenital myopathy 6 with ophthalmoplegia semapv:UnspecifiedMatching MONDO:0011577 myopathy, proximal, and ophthalmoplegia skos:exactMatch UMLS:C1854106 semapv:UnspecifiedMatching MONDO:0011577 myopathy, proximal, and ophthalmoplegia skos:exactMatch mesh:C565311 semapv:UnspecifiedMatching MONDO:0011578 familial papillary thyroid carcinoma with renal papillary neoplasia skos:exactMatch MEDGEN:381339 semapv:UnspecifiedMatching MONDO:0011578 familial papillary thyroid carcinoma with renal papillary neoplasia skos:exactMatch OMIM:605642 thyroid carcinoma, papillary, with papillary renal neoplasia semapv:UnspecifiedMatching MONDO:0011578 familial papillary thyroid carcinoma with renal papillary neoplasia skos:exactMatch Orphanet:97290 Familial papillary thyroid carcinoma with renal papillary neoplasia semapv:UnspecifiedMatching MONDO:0011578 familial papillary thyroid carcinoma with renal papillary neoplasia skos:exactMatch SCTID:717734005 semapv:UnspecifiedMatching MONDO:0011578 familial papillary thyroid carcinoma with renal papillary neoplasia skos:exactMatch UMLS:C1854104 semapv:UnspecifiedMatching MONDO:0011578 familial papillary thyroid carcinoma with renal papillary neoplasia skos:exactMatch mesh:C565310 semapv:UnspecifiedMatching MONDO:0011579 late-onset retinal degeneration skos:exactMatch DOID:0060869 late-onset retinal degeneration semapv:UnspecifiedMatching MONDO:0011579 late-onset retinal degeneration skos:exactMatch MEDGEN:344198 semapv:UnspecifiedMatching MONDO:0011579 late-onset retinal degeneration skos:exactMatch OMIM:605670 late-onset retinal degeneration semapv:UnspecifiedMatching MONDO:0011579 late-onset retinal degeneration skos:exactMatch Orphanet:67042 Late-onset retinal degeneration semapv:UnspecifiedMatching MONDO:0011579 late-onset retinal degeneration skos:exactMatch SCTID:719431007 semapv:UnspecifiedMatching MONDO:0011579 late-onset retinal degeneration skos:exactMatch UMLS:C1854065 semapv:UnspecifiedMatching MONDO:0011579 late-onset retinal degeneration skos:exactMatch mesh:C565309 semapv:UnspecifiedMatching MONDO:0011580 cerebellar ataxia and hypergonadotropic hypogonadism skos:exactMatch MEDGEN:381328 semapv:UnspecifiedMatching MONDO:0011580 cerebellar ataxia and hypergonadotropic hypogonadism skos:exactMatch OMIM:605672 cerebellar ataxia and hypergonadotropic hypogonadism semapv:UnspecifiedMatching MONDO:0011580 cerebellar ataxia and hypergonadotropic hypogonadism skos:exactMatch UMLS:C1854064 semapv:UnspecifiedMatching MONDO:0011580 cerebellar ataxia and hypergonadotropic hypogonadism skos:exactMatch mesh:C565308 semapv:UnspecifiedMatching MONDO:0011581 arrhythmogenic cardiomyopathy with wooly hair and keratoderma skos:exactMatch DOID:0090128 Carvajal syndrome semapv:UnspecifiedMatching MONDO:0011581 arrhythmogenic cardiomyopathy with wooly hair and keratoderma skos:exactMatch MEDGEN:340124 semapv:UnspecifiedMatching MONDO:0011581 arrhythmogenic cardiomyopathy with wooly hair and keratoderma skos:exactMatch OMIM:605676 cardiomyopathy, dilated, with woolly hair and keratoderma semapv:UnspecifiedMatching MONDO:0011581 arrhythmogenic cardiomyopathy with wooly hair and keratoderma skos:exactMatch Orphanet:65282 Carvajal syndrome semapv:UnspecifiedMatching MONDO:0011581 arrhythmogenic cardiomyopathy with wooly hair and keratoderma skos:exactMatch SCTID:719835006 semapv:UnspecifiedMatching MONDO:0011581 arrhythmogenic cardiomyopathy with wooly hair and keratoderma skos:exactMatch UMLS:C1854063 semapv:UnspecifiedMatching MONDO:0011581 arrhythmogenic cardiomyopathy with wooly hair and keratoderma skos:exactMatch mesh:C535581 semapv:UnspecifiedMatching MONDO:0011582 multiple mitochondrial dysfunctions syndrome 1 skos:exactMatch DOID:0080133 multiple mitochondrial dysfunctions syndrome 1 semapv:UnspecifiedMatching MONDO:0011582 multiple mitochondrial dysfunctions syndrome 1 skos:exactMatch MEDGEN:478062 semapv:UnspecifiedMatching MONDO:0011582 multiple mitochondrial dysfunctions syndrome 1 skos:exactMatch OMIM:605711 multiple mitochondrial dysfunctions syndrome 1 semapv:UnspecifiedMatching MONDO:0011582 multiple mitochondrial dysfunctions syndrome 1 skos:exactMatch Orphanet:401869 Multiple mitochondrial dysfunctions syndrome type 1 semapv:UnspecifiedMatching MONDO:0011582 multiple mitochondrial dysfunctions syndrome 1 skos:exactMatch UMLS:C3276432 semapv:UnspecifiedMatching MONDO:0011583 cerebral amyloid angiopathy, APP-related skos:exactMatch DOID:0070028 APP-related cerebral amyloid angiopathy semapv:UnspecifiedMatching MONDO:0011583 cerebral amyloid angiopathy, APP-related skos:exactMatch MEDGEN:414044 semapv:UnspecifiedMatching MONDO:0011583 cerebral amyloid angiopathy, APP-related skos:exactMatch NCIT:C157147 Cerebral Amyloid Angiopathy, APP-Related semapv:UnspecifiedMatching MONDO:0011583 cerebral amyloid angiopathy, APP-related skos:exactMatch OMIM:605714 cerebral amyloid angiopathy, app-related semapv:UnspecifiedMatching MONDO:0011583 cerebral amyloid angiopathy, APP-related skos:exactMatch UMLS:C2751536 semapv:UnspecifiedMatching MONDO:0011584 Fanconi anemia complementation group D1 skos:exactMatch DOID:0111089 Fanconi anemia complementation group D1 semapv:UnspecifiedMatching MONDO:0011584 Fanconi anemia complementation group D1 skos:exactMatch MEDGEN:325420 semapv:UnspecifiedMatching MONDO:0011584 Fanconi anemia complementation group D1 skos:exactMatch NCIT:C125705 Fanconi Anemia, Complementation Group D1 semapv:UnspecifiedMatching MONDO:0011584 Fanconi anemia complementation group D1 skos:exactMatch OMIM:605724 fanconi anemia, complementation group d1 semapv:UnspecifiedMatching MONDO:0011584 Fanconi anemia complementation group D1 skos:exactMatch Orphanet:319462 Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations semapv:UnspecifiedMatching MONDO:0011584 Fanconi anemia complementation group D1 skos:exactMatch SCTID:766707003 semapv:UnspecifiedMatching MONDO:0011584 Fanconi anemia complementation group D1 skos:exactMatch UMLS:C1838457 semapv:UnspecifiedMatching MONDO:0011584 Fanconi anemia complementation group D1 skos:exactMatch mesh:C563980 semapv:UnspecifiedMatching MONDO:0011585 autosomal recessive distal spinal muscular atrophy 2 skos:exactMatch DOID:0111065 autosomal recessive distal hereditary motor neuronopathy 2 semapv:UnspecifiedMatching MONDO:0011585 autosomal recessive distal spinal muscular atrophy 2 skos:exactMatch MEDGEN:344189 semapv:UnspecifiedMatching MONDO:0011585 autosomal recessive distal spinal muscular atrophy 2 skos:exactMatch OMIM:605726 neuronopathy, distal hereditary motor, autosomal recessive 2 semapv:UnspecifiedMatching MONDO:0011585 autosomal recessive distal spinal muscular atrophy 2 skos:exactMatch Orphanet:139552 Distal hereditary motor neuropathy, Jerash type semapv:UnspecifiedMatching MONDO:0011585 autosomal recessive distal spinal muscular atrophy 2 skos:exactMatch SCTID:763533003 semapv:UnspecifiedMatching MONDO:0011585 autosomal recessive distal spinal muscular atrophy 2 skos:exactMatch UMLS:C1854023 semapv:UnspecifiedMatching MONDO:0011585 autosomal recessive distal spinal muscular atrophy 2 skos:exactMatch mesh:C535715 semapv:UnspecifiedMatching MONDO:0011586 otosclerosis 2 skos:exactMatch DOID:0060921 otosclerosis 2 semapv:UnspecifiedMatching MONDO:0011586 otosclerosis 2 skos:exactMatch MEDGEN:340117 semapv:UnspecifiedMatching MONDO:0011586 otosclerosis 2 skos:exactMatch OMIM:605727 otosclerosis 2 semapv:UnspecifiedMatching MONDO:0011586 otosclerosis 2 skos:exactMatch UMLS:C1854022 semapv:UnspecifiedMatching MONDO:0011586 otosclerosis 2 skos:exactMatch mesh:C565302 semapv:UnspecifiedMatching MONDO:0011587 cataract 25 skos:exactMatch DOID:0110254 cataract 25 semapv:UnspecifiedMatching MONDO:0011587 cataract 25 skos:exactMatch MEDGEN:340116 semapv:UnspecifiedMatching MONDO:0011587 cataract 25 skos:exactMatch OMIM:605728 cataract 25 semapv:UnspecifiedMatching MONDO:0011587 cataract 25 skos:exactMatch UMLS:C1854021 semapv:UnspecifiedMatching MONDO:0011587 cataract 25 skos:exactMatch mesh:C565301 semapv:UnspecifiedMatching MONDO:0011588 platelet-type bleeding disorder 12 skos:exactMatch DOID:0111058 platelet-type bleeding disorder 12 semapv:UnspecifiedMatching MONDO:0011588 platelet-type bleeding disorder 12 skos:exactMatch MEDGEN:414043 semapv:UnspecifiedMatching MONDO:0011588 platelet-type bleeding disorder 12 skos:exactMatch OMIM:605735 bleeding disorder, platelet-type, 12 semapv:UnspecifiedMatching MONDO:0011588 platelet-type bleeding disorder 12 skos:exactMatch UMLS:C2751535 semapv:UnspecifiedMatching MONDO:0011588 platelet-type bleeding disorder 12 skos:exactMatch mesh:C567786 semapv:UnspecifiedMatching MONDO:0011589 microphthalmia with coloboma 2 skos:exactMatch MEDGEN:343030 semapv:UnspecifiedMatching MONDO:0011589 microphthalmia with coloboma 2 skos:exactMatch OMIM:605738 microphthalmia/coloboma 2 semapv:UnspecifiedMatching MONDO:0011589 microphthalmia with coloboma 2 skos:exactMatch UMLS:C1854018 semapv:UnspecifiedMatching MONDO:0011589 microphthalmia with coloboma 2 skos:exactMatch mesh:C565300 semapv:UnspecifiedMatching MONDO:0011590 anisomastia skos:exactMatch MEDGEN:381317 semapv:UnspecifiedMatching MONDO:0011590 anisomastia skos:exactMatch OMIM:605746 anisomastia semapv:UnspecifiedMatching MONDO:0011590 anisomastia skos:exactMatch UMLS:C1854013 semapv:UnspecifiedMatching MONDO:0011590 anisomastia skos:exactMatch mesh:C565299 semapv:UnspecifiedMatching MONDO:0011591 cataract 26 multiple types skos:exactMatch DOID:0110246 cataract 26 multiple types semapv:UnspecifiedMatching MONDO:0011591 cataract 26 multiple types skos:exactMatch MEDGEN:381316 semapv:UnspecifiedMatching MONDO:0011591 cataract 26 multiple types skos:exactMatch OMIM:605749 cataract 26, multiple types semapv:UnspecifiedMatching MONDO:0011591 cataract 26 multiple types skos:exactMatch UMLS:C1854003 semapv:UnspecifiedMatching MONDO:0011591 cataract 26 multiple types skos:exactMatch mesh:C565298 semapv:UnspecifiedMatching MONDO:0011592 exudative vitreoretinopathy 3 skos:exactMatch DOID:0111409 exudative vitreoretinopathy 3 semapv:UnspecifiedMatching MONDO:0011592 exudative vitreoretinopathy 3 skos:exactMatch MEDGEN:344184 semapv:UnspecifiedMatching MONDO:0011592 exudative vitreoretinopathy 3 skos:exactMatch OMIM:605750 exudative vitreoretinopathy 3 semapv:UnspecifiedMatching MONDO:0011592 exudative vitreoretinopathy 3 skos:exactMatch UMLS:C1854002 semapv:UnspecifiedMatching MONDO:0011592 exudative vitreoretinopathy 3 skos:exactMatch mesh:C565297 semapv:UnspecifiedMatching MONDO:0011593 seizures, benign familial infantile, 2 skos:exactMatch DOID:0081115 benign familial infantile seizures 2 semapv:UnspecifiedMatching MONDO:0011593 seizures, benign familial infantile, 2 skos:exactMatch MEDGEN:381313 semapv:UnspecifiedMatching MONDO:0011593 seizures, benign familial infantile, 2 skos:exactMatch OMIM:605751 seizures, benign familial infantile, 2 semapv:UnspecifiedMatching MONDO:0011593 seizures, benign familial infantile, 2 skos:exactMatch UMLS:C1853995 semapv:UnspecifiedMatching MONDO:0011593 seizures, benign familial infantile, 2 skos:exactMatch mesh:C565296 semapv:UnspecifiedMatching MONDO:0011594 ovarian dysgenesis, hypergonadotropic, with short stature and recurrent metabolic acidosis skos:exactMatch MEDGEN:460321 semapv:UnspecifiedMatching MONDO:0011594 ovarian dysgenesis, hypergonadotropic, with short stature and recurrent metabolic acidosis skos:exactMatch OMIM:605756 ovarian dysgenesis, hypergonadotropic, with short stature and recurrent metabolic acidosis semapv:UnspecifiedMatching MONDO:0011594 ovarian dysgenesis, hypergonadotropic, with short stature and recurrent metabolic acidosis skos:exactMatch UMLS:C3148970 semapv:UnspecifiedMatching MONDO:0011595 nonsyndromic congenital nail disorder 7 skos:exactMatch DOID:0080085 nonsyndromic congenital nail disorder 7 semapv:UnspecifiedMatching MONDO:0011595 nonsyndromic congenital nail disorder 7 skos:exactMatch MEDGEN:1803839 semapv:UnspecifiedMatching MONDO:0011595 nonsyndromic congenital nail disorder 7 skos:exactMatch OMIM:605779 nail disorder, nonsyndromic congenital, 7 semapv:UnspecifiedMatching MONDO:0011595 nonsyndromic congenital nail disorder 7 skos:exactMatch Orphanet:79144 Isolated congenital onychodysplasia semapv:UnspecifiedMatching MONDO:0011595 nonsyndromic congenital nail disorder 7 skos:exactMatch SCTID:403281007 semapv:UnspecifiedMatching MONDO:0011595 nonsyndromic congenital nail disorder 7 skos:exactMatch UMLS:C5574953 semapv:UnspecifiedMatching MONDO:0011595 nonsyndromic congenital nail disorder 7 skos:exactMatch mesh:C538333 semapv:UnspecifiedMatching MONDO:0011596 dermatitis, atopic, 2 skos:exactMatch DOID:0110098 atopic dermatitis 2 semapv:UnspecifiedMatching MONDO:0011596 dermatitis, atopic, 2 skos:exactMatch MEDGEN:340100 semapv:UnspecifiedMatching MONDO:0011596 dermatitis, atopic, 2 skos:exactMatch OMIM:605803 dermatitis, atopic, 2 semapv:UnspecifiedMatching MONDO:0011596 dermatitis, atopic, 2 skos:exactMatch UMLS:C1853965 semapv:UnspecifiedMatching MONDO:0011596 dermatitis, atopic, 2 skos:exactMatch mesh:C565293 semapv:UnspecifiedMatching MONDO:0011597 dermatitis, atopic, 3 skos:exactMatch DOID:0110099 atopic dermatitis 3 semapv:UnspecifiedMatching MONDO:0011597 dermatitis, atopic, 3 skos:exactMatch MEDGEN:344173 semapv:UnspecifiedMatching MONDO:0011597 dermatitis, atopic, 3 skos:exactMatch OMIM:605804 dermatitis, atopic, 3 semapv:UnspecifiedMatching MONDO:0011597 dermatitis, atopic, 3 skos:exactMatch UMLS:C1853964 semapv:UnspecifiedMatching MONDO:0011597 dermatitis, atopic, 3 skos:exactMatch mesh:C565292 semapv:UnspecifiedMatching MONDO:0011598 dermatitis, atopic, 4 skos:exactMatch DOID:0110100 atopic dermatitis 4 semapv:UnspecifiedMatching MONDO:0011598 dermatitis, atopic, 4 skos:exactMatch MEDGEN:340099 semapv:UnspecifiedMatching MONDO:0011598 dermatitis, atopic, 4 skos:exactMatch OMIM:605805 dermatitis, atopic, 4 semapv:UnspecifiedMatching MONDO:0011598 dermatitis, atopic, 4 skos:exactMatch UMLS:C1853963 semapv:UnspecifiedMatching MONDO:0011598 dermatitis, atopic, 4 skos:exactMatch mesh:C565291 semapv:UnspecifiedMatching MONDO:0011599 birdshot chorioretinopathy skos:exactMatch DOID:0111079 birdshot chorioretinopathy semapv:UnspecifiedMatching MONDO:0011599 birdshot chorioretinopathy skos:exactMatch MEDGEN:340098 semapv:UnspecifiedMatching MONDO:0011599 birdshot chorioretinopathy skos:exactMatch OMIM:605808 birdshot chorioretinopathy semapv:UnspecifiedMatching MONDO:0011599 birdshot chorioretinopathy skos:exactMatch Orphanet:179 Birdshot chorioretinopathy semapv:UnspecifiedMatching MONDO:0011599 birdshot chorioretinopathy skos:exactMatch SCTID:231981005 semapv:UnspecifiedMatching MONDO:0011599 birdshot chorioretinopathy skos:exactMatch UMLS:C1853959 semapv:UnspecifiedMatching MONDO:0011599 birdshot chorioretinopathy skos:exactMatch icd11.foundation:1954035043 Birdshot chorioretinopathy semapv:UnspecifiedMatching MONDO:0011599 birdshot chorioretinopathy skos:exactMatch mesh:C537630 semapv:UnspecifiedMatching MONDO:0011600 congenital myasthenic syndrome 4A skos:exactMatch DOID:0110678 congenital myasthenic syndrome 4A semapv:UnspecifiedMatching MONDO:0011600 congenital myasthenic syndrome 4A skos:exactMatch MEDGEN:908188 semapv:UnspecifiedMatching MONDO:0011600 congenital myasthenic syndrome 4A skos:exactMatch OMIM:605809 myasthenic syndrome, congenital, 4a, slow-channel semapv:UnspecifiedMatching MONDO:0011600 congenital myasthenic syndrome 4A skos:exactMatch UMLS:C4225413 semapv:UnspecifiedMatching MONDO:0011601 neonatal intrahepatic cholestasis due to citrin deficiency skos:exactMatch DOID:0070341 neonatal-onset type II citrullinemia semapv:UnspecifiedMatching MONDO:0011601 neonatal intrahepatic cholestasis due to citrin deficiency skos:exactMatch MEDGEN:340091 semapv:UnspecifiedMatching MONDO:0011601 neonatal intrahepatic cholestasis due to citrin deficiency skos:exactMatch OMIM:605814 citrin deficiency, neonatal or infantile onset semapv:UnspecifiedMatching MONDO:0011601 neonatal intrahepatic cholestasis due to citrin deficiency skos:exactMatch Orphanet:247598 Neonatal intrahepatic cholestasis due to citrin deficiency semapv:UnspecifiedMatching MONDO:0011601 neonatal intrahepatic cholestasis due to citrin deficiency skos:exactMatch SCTID:717155003 semapv:UnspecifiedMatching MONDO:0011601 neonatal intrahepatic cholestasis due to citrin deficiency skos:exactMatch UMLS:C1853942 semapv:UnspecifiedMatching MONDO:0011601 neonatal intrahepatic cholestasis due to citrin deficiency skos:exactMatch mesh:C536398 semapv:UnspecifiedMatching MONDO:0011602 autosomal recessive nonsyndromic hearing loss 27 skos:exactMatch DOID:0110485 autosomal recessive nonsyndromic deafness 27 semapv:UnspecifiedMatching MONDO:0011602 autosomal recessive nonsyndromic hearing loss 27 skos:exactMatch MEDGEN:381303 semapv:UnspecifiedMatching MONDO:0011602 autosomal recessive nonsyndromic hearing loss 27 skos:exactMatch OMIM:605818 deafness, autosomal recessive 27 semapv:UnspecifiedMatching MONDO:0011602 autosomal recessive nonsyndromic hearing loss 27 skos:exactMatch UMLS:C1853941 semapv:UnspecifiedMatching MONDO:0011602 autosomal recessive nonsyndromic hearing loss 27 skos:exactMatch mesh:C565287 semapv:UnspecifiedMatching MONDO:0011603 GNE myopathy skos:exactMatch DOID:0080718 GNE myopathy semapv:UnspecifiedMatching MONDO:0011603 GNE myopathy skos:exactMatch MEDGEN:381298 semapv:UnspecifiedMatching MONDO:0011603 GNE myopathy skos:exactMatch OMIM:605820 nonaka myopathy semapv:UnspecifiedMatching MONDO:0011603 GNE myopathy skos:exactMatch Orphanet:602 GNE myopathy semapv:UnspecifiedMatching MONDO:0011603 GNE myopathy skos:exactMatch SCTID:702382000 semapv:UnspecifiedMatching MONDO:0011603 GNE myopathy skos:exactMatch UMLS:C1853926 semapv:UnspecifiedMatching MONDO:0011604 spondylo-ocular syndrome skos:exactMatch MEDGEN:900371 semapv:UnspecifiedMatching MONDO:0011604 spondylo-ocular syndrome skos:exactMatch OMIM:605822 spondyloocular syndrome semapv:UnspecifiedMatching MONDO:0011604 spondylo-ocular syndrome skos:exactMatch Orphanet:85194 Spondylo-ocular syndrome semapv:UnspecifiedMatching MONDO:0011604 spondylo-ocular syndrome skos:exactMatch SCTID:715653007 semapv:UnspecifiedMatching MONDO:0011604 spondylo-ocular syndrome skos:exactMatch UMLS:C4225412 semapv:UnspecifiedMatching MONDO:0011604 spondylo-ocular syndrome skos:exactMatch icd11.foundation:1611450426 Spondylo-ocular syndrome semapv:UnspecifiedMatching MONDO:0011605 generalized basaloid follicular hamartoma syndrome skos:exactMatch MEDGEN:343009 semapv:UnspecifiedMatching MONDO:0011605 generalized basaloid follicular hamartoma syndrome skos:exactMatch OMIM:605827 basaloid follicular hamartoma syndrome, generalized, autosomal dominant semapv:UnspecifiedMatching MONDO:0011605 generalized basaloid follicular hamartoma syndrome skos:exactMatch Orphanet:168632 Generalized basaloid follicular hamartoma syndrome semapv:UnspecifiedMatching MONDO:0011605 generalized basaloid follicular hamartoma syndrome skos:exactMatch SCTID:766928004 semapv:UnspecifiedMatching MONDO:0011605 generalized basaloid follicular hamartoma syndrome skos:exactMatch UMLS:C1853919 semapv:UnspecifiedMatching MONDO:0011605 generalized basaloid follicular hamartoma syndrome skos:exactMatch mesh:C565284 semapv:UnspecifiedMatching MONDO:0011606 baby rattle pelvis dysplasia skos:exactMatch MEDGEN:340083 semapv:UnspecifiedMatching MONDO:0011606 baby rattle pelvis dysplasia skos:exactMatch OMIM:605838 baby rattle pelvis dysplasia semapv:UnspecifiedMatching MONDO:0011606 baby rattle pelvis dysplasia skos:exactMatch UMLS:C1853911 semapv:UnspecifiedMatching MONDO:0011606 baby rattle pelvis dysplasia skos:exactMatch mesh:C537794 semapv:UnspecifiedMatching MONDO:0011606 baby rattle pelvis dysplasia skos:exactMatch mesh:C565282 semapv:UnspecifiedMatching MONDO:0011607 narcolepsy 2, susceptibility to skos:exactMatch MEDGEN:381293 semapv:UnspecifiedMatching MONDO:0011607 narcolepsy 2, susceptibility to skos:exactMatch OMIM:605841 narcolepsy 2, susceptibility to semapv:UnspecifiedMatching MONDO:0011607 narcolepsy 2, susceptibility to skos:exactMatch UMLS:C1853901 semapv:UnspecifiedMatching MONDO:0011608 dermatitis, atopic, 5 skos:exactMatch DOID:0110101 atopic dermatitis 5 semapv:UnspecifiedMatching MONDO:0011608 dermatitis, atopic, 5 skos:exactMatch MEDGEN:381292 semapv:UnspecifiedMatching MONDO:0011608 dermatitis, atopic, 5 skos:exactMatch OMIM:605844 dermatitis, atopic, 5 semapv:UnspecifiedMatching MONDO:0011608 dermatitis, atopic, 5 skos:exactMatch UMLS:C1853900 semapv:UnspecifiedMatching MONDO:0011608 dermatitis, atopic, 5 skos:exactMatch mesh:C565280 semapv:UnspecifiedMatching MONDO:0011609 dermatitis, atopic, 6 skos:exactMatch DOID:0110102 atopic dermatitis 6 semapv:UnspecifiedMatching MONDO:0011609 dermatitis, atopic, 6 skos:exactMatch MEDGEN:344154 semapv:UnspecifiedMatching MONDO:0011609 dermatitis, atopic, 6 skos:exactMatch OMIM:605845 dermatitis, atopic, 6 semapv:UnspecifiedMatching MONDO:0011609 dermatitis, atopic, 6 skos:exactMatch UMLS:C1853899 semapv:UnspecifiedMatching MONDO:0011609 dermatitis, atopic, 6 skos:exactMatch mesh:C565279 semapv:UnspecifiedMatching MONDO:0011610 dimethylglycine dehydrogenase deficiency skos:exactMatch DOID:0081446 dimethylglycine dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0011610 dimethylglycine dehydrogenase deficiency skos:exactMatch MEDGEN:343006 semapv:UnspecifiedMatching MONDO:0011610 dimethylglycine dehydrogenase deficiency skos:exactMatch OMIM:605850 dimethylglycine dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0011610 dimethylglycine dehydrogenase deficiency skos:exactMatch Orphanet:243343 Dimethylglycine dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0011610 dimethylglycine dehydrogenase deficiency skos:exactMatch SCTID:719449007 semapv:UnspecifiedMatching MONDO:0011610 dimethylglycine dehydrogenase deficiency skos:exactMatch UMLS:C1853892 semapv:UnspecifiedMatching MONDO:0011610 dimethylglycine dehydrogenase deficiency skos:exactMatch mesh:C565278 semapv:UnspecifiedMatching MONDO:0011611 short stature, intellectual disability, callosal agenesis, Heminasal hypoplasia, microphthalmia, and atypical clefting skos:exactMatch MEDGEN:370814 semapv:UnspecifiedMatching MONDO:0011611 short stature, intellectual disability, callosal agenesis, Heminasal hypoplasia, microphthalmia, and atypical clefting skos:exactMatch OMIM:605856 short stature, impaired intellectual development, callosal agenesis, heminasal hypoplasia, microphthalmia, and atypical clefting semapv:UnspecifiedMatching MONDO:0011611 short stature, intellectual disability, callosal agenesis, Heminasal hypoplasia, microphthalmia, and atypical clefting skos:exactMatch UMLS:C1970039 semapv:UnspecifiedMatching MONDO:0011611 short stature, intellectual disability, callosal agenesis, Heminasal hypoplasia, microphthalmia, and atypical clefting skos:exactMatch mesh:C566989 semapv:UnspecifiedMatching MONDO:0011612 glycine encephalopathy skos:exactMatch DOID:9268 glycine encephalopathy semapv:UnspecifiedMatching MONDO:0011612 glycine encephalopathy skos:exactMatch MEDGEN:155625 semapv:UnspecifiedMatching MONDO:0011612 glycine encephalopathy skos:exactMatch NCIT:C84937 Glycine Encephalopathy semapv:UnspecifiedMatching MONDO:0011612 glycine encephalopathy skos:exactMatch OMIMPS:605899 Glycine encephalopathy semapv:UnspecifiedMatching MONDO:0011612 glycine encephalopathy skos:exactMatch Orphanet:407 Glycine encephalopathy semapv:UnspecifiedMatching MONDO:0011612 glycine encephalopathy skos:exactMatch SCTID:237939006 semapv:UnspecifiedMatching MONDO:0011612 glycine encephalopathy skos:exactMatch UMLS:C0751748 semapv:UnspecifiedMatching MONDO:0011612 glycine encephalopathy skos:exactMatch icd11.foundation:1491869639 Glycine encephalopathy semapv:UnspecifiedMatching MONDO:0011613 autosomal recessive early-onset Parkinson disease 6 skos:exactMatch DOID:0060369 Parkinson's disease 6 semapv:UnspecifiedMatching MONDO:0011613 autosomal recessive early-onset Parkinson disease 6 skos:exactMatch MEDGEN:342982 semapv:UnspecifiedMatching MONDO:0011613 autosomal recessive early-onset Parkinson disease 6 skos:exactMatch OMIM:605909 parkinson disease 6, autosomal recessive early-onset semapv:UnspecifiedMatching MONDO:0011613 autosomal recessive early-onset Parkinson disease 6 skos:exactMatch UMLS:C1853833 semapv:UnspecifiedMatching MONDO:0011613 autosomal recessive early-onset Parkinson disease 6 skos:exactMatch mesh:C565276 semapv:UnspecifiedMatching MONDO:0011614 3-hydroxy-3-methylglutaryl-CoA synthase deficiency skos:exactMatch DOID:0081168 HMG-CoA synthase 2 deficiency semapv:UnspecifiedMatching MONDO:0011614 3-hydroxy-3-methylglutaryl-CoA synthase deficiency skos:exactMatch MEDGEN:414399 semapv:UnspecifiedMatching MONDO:0011614 3-hydroxy-3-methylglutaryl-CoA synthase deficiency skos:exactMatch OMIM:605911 3-hydroxy-3-methylglutaryl-coa synthase-2 deficiency semapv:UnspecifiedMatching MONDO:0011614 3-hydroxy-3-methylglutaryl-CoA synthase deficiency skos:exactMatch Orphanet:35701 3-hydroxy-3-methylglutaryl-CoA synthase deficiency semapv:UnspecifiedMatching MONDO:0011614 3-hydroxy-3-methylglutaryl-CoA synthase deficiency skos:exactMatch SCTID:725286002 semapv:UnspecifiedMatching MONDO:0011614 3-hydroxy-3-methylglutaryl-CoA synthase deficiency skos:exactMatch UMLS:C2751532 semapv:UnspecifiedMatching MONDO:0011614 3-hydroxy-3-methylglutaryl-CoA synthase deficiency skos:exactMatch mesh:C567784 semapv:UnspecifiedMatching MONDO:0011615 East Texas bleeding disorder skos:exactMatch MEDGEN:342980 semapv:UnspecifiedMatching MONDO:0011615 East Texas bleeding disorder skos:exactMatch OMIM:605913 bleeding disorder, east texas type semapv:UnspecifiedMatching MONDO:0011615 East Texas bleeding disorder skos:exactMatch Orphanet:391320 East Texas bleeding disorder semapv:UnspecifiedMatching MONDO:0011615 East Texas bleeding disorder skos:exactMatch UMLS:C1853831 semapv:UnspecifiedMatching MONDO:0011615 East Texas bleeding disorder skos:exactMatch mesh:C565275 semapv:UnspecifiedMatching MONDO:0011616 holoprosencephaly 6 skos:exactMatch DOID:0110874 holoprosencephaly 6 semapv:UnspecifiedMatching MONDO:0011616 holoprosencephaly 6 skos:exactMatch MEDGEN:342979 semapv:UnspecifiedMatching MONDO:0011616 holoprosencephaly 6 skos:exactMatch OMIM:605934 holoprosencephaly 6 semapv:UnspecifiedMatching MONDO:0011616 holoprosencephaly 6 skos:exactMatch UMLS:C1853830 semapv:UnspecifiedMatching MONDO:0011616 holoprosencephaly 6 skos:exactMatch mesh:C565274 semapv:UnspecifiedMatching MONDO:0011617 arthropathy, erosive skos:exactMatch MEDGEN:342978 semapv:UnspecifiedMatching MONDO:0011617 arthropathy, erosive skos:exactMatch OMIM:605935 arthropathy, erosive semapv:UnspecifiedMatching MONDO:0011617 arthropathy, erosive skos:exactMatch UMLS:C1853829 semapv:UnspecifiedMatching MONDO:0011617 arthropathy, erosive skos:exactMatch mesh:C565273 semapv:UnspecifiedMatching MONDO:0011618 liver fibrocystic disease and polydactyly skos:exactMatch MEDGEN:381278 semapv:UnspecifiedMatching MONDO:0011618 liver fibrocystic disease and polydactyly skos:exactMatch OMIM:605944 liver fibrocystic disease and polydactyly semapv:UnspecifiedMatching MONDO:0011618 liver fibrocystic disease and polydactyly skos:exactMatch UMLS:C1853827 semapv:UnspecifiedMatching MONDO:0011618 liver fibrocystic disease and polydactyly skos:exactMatch mesh:C565272 semapv:UnspecifiedMatching MONDO:0011619 crumpled helices and small mouth skos:exactMatch MEDGEN:342976 semapv:UnspecifiedMatching MONDO:0011619 crumpled helices and small mouth skos:exactMatch OMIM:605945 crumpled helices and small mouth semapv:UnspecifiedMatching MONDO:0011619 crumpled helices and small mouth skos:exactMatch UMLS:C1853826 semapv:UnspecifiedMatching MONDO:0011619 crumpled helices and small mouth skos:exactMatch mesh:C536217 semapv:UnspecifiedMatching MONDO:0011620 metaphyseal dysplasia, Braun-Tinschert type skos:exactMatch MEDGEN:381277 semapv:UnspecifiedMatching MONDO:0011620 metaphyseal dysplasia, Braun-Tinschert type skos:exactMatch OMIM:605946 metaphyseal dysplasia, braun-tinschert type semapv:UnspecifiedMatching MONDO:0011620 metaphyseal dysplasia, Braun-Tinschert type skos:exactMatch Orphanet:85188 Metaphyseal dysplasia, Braun-Tinschert type semapv:UnspecifiedMatching MONDO:0011620 metaphyseal dysplasia, Braun-Tinschert type skos:exactMatch SCTID:717221005 semapv:UnspecifiedMatching MONDO:0011620 metaphyseal dysplasia, Braun-Tinschert type skos:exactMatch UMLS:C1853825 semapv:UnspecifiedMatching MONDO:0011620 metaphyseal dysplasia, Braun-Tinschert type skos:exactMatch mesh:C565271 semapv:UnspecifiedMatching MONDO:0011621 acropectoral syndrome skos:exactMatch MEDGEN:342975 semapv:UnspecifiedMatching MONDO:0011621 acropectoral syndrome skos:exactMatch OMIM:605967 acropectoral syndrome semapv:UnspecifiedMatching MONDO:0011621 acropectoral syndrome skos:exactMatch Orphanet:85203 Acropectoral syndrome semapv:UnspecifiedMatching MONDO:0011621 acropectoral syndrome skos:exactMatch SCTID:720412009 semapv:UnspecifiedMatching MONDO:0011621 acropectoral syndrome skos:exactMatch UMLS:C1853812 semapv:UnspecifiedMatching MONDO:0011621 acropectoral syndrome skos:exactMatch icd11.foundation:1060723089 Acropectoral syndrome semapv:UnspecifiedMatching MONDO:0011621 acropectoral syndrome skos:exactMatch mesh:C535664 semapv:UnspecifiedMatching MONDO:0011622 nephrolithiasis, uric acid, susceptibility to skos:exactMatch MEDGEN:397793 semapv:UnspecifiedMatching MONDO:0011622 nephrolithiasis, uric acid, susceptibility to skos:exactMatch OMIM:605990 nephrolithiasis, uric acid, susceptibility to semapv:UnspecifiedMatching MONDO:0011622 nephrolithiasis, uric acid, susceptibility to skos:exactMatch UMLS:C2700426 semapv:UnspecifiedMatching MONDO:0011624 transaldolase deficiency skos:exactMatch MEDGEN:224855 semapv:UnspecifiedMatching MONDO:0011624 transaldolase deficiency skos:exactMatch OMIM:606003 transaldolase deficiency semapv:UnspecifiedMatching MONDO:0011624 transaldolase deficiency skos:exactMatch Orphanet:101028 Transaldolase deficiency semapv:UnspecifiedMatching MONDO:0011624 transaldolase deficiency skos:exactMatch SCTID:124252008 semapv:UnspecifiedMatching MONDO:0011624 transaldolase deficiency skos:exactMatch UMLS:C1291329 semapv:UnspecifiedMatching MONDO:0011624 transaldolase deficiency skos:exactMatch icd11.foundation:424536994 Transaldolase deficiency semapv:UnspecifiedMatching MONDO:0011624 transaldolase deficiency skos:exactMatch mesh:C563207 semapv:UnspecifiedMatching MONDO:0011625 autosomal dominant nonsyndromic hearing loss 18 skos:exactMatch DOID:0110549 autosomal dominant nonsyndromic deafness 18 semapv:UnspecifiedMatching MONDO:0011625 autosomal dominant nonsyndromic hearing loss 18 skos:exactMatch MEDGEN:340051 semapv:UnspecifiedMatching MONDO:0011625 autosomal dominant nonsyndromic hearing loss 18 skos:exactMatch OMIM:606012 deafness, autosomal dominant 18 semapv:UnspecifiedMatching MONDO:0011625 autosomal dominant nonsyndromic hearing loss 18 skos:exactMatch UMLS:C1853760 semapv:UnspecifiedMatching MONDO:0011625 autosomal dominant nonsyndromic hearing loss 18 skos:exactMatch mesh:C565267 semapv:UnspecifiedMatching MONDO:0011626 acromegaloid features, overgrowth, cleft palate, and hernia skos:exactMatch MEDGEN:340050 semapv:UnspecifiedMatching MONDO:0011626 acromegaloid features, overgrowth, cleft palate, and hernia skos:exactMatch OMIM:606049 acromegaloid features, overgrowth, cleft palate, and hernia semapv:UnspecifiedMatching MONDO:0011626 acromegaloid features, overgrowth, cleft palate, and hernia skos:exactMatch UMLS:C1853757 semapv:UnspecifiedMatching MONDO:0011626 acromegaloid features, overgrowth, cleft palate, and hernia skos:exactMatch mesh:C535656 semapv:UnspecifiedMatching MONDO:0011627 intellectual developmental disorder with autism and speech delay skos:exactMatch MEDGEN:340048 semapv:UnspecifiedMatching MONDO:0011627 intellectual developmental disorder with autism and speech delay skos:exactMatch OMIM:606053 intellectual developmental disorder with autism and speech delay semapv:UnspecifiedMatching MONDO:0011627 intellectual developmental disorder with autism and speech delay skos:exactMatch UMLS:C1853755 semapv:UnspecifiedMatching MONDO:0011628 propionic acidemia skos:exactMatch DOID:14701 propionic acidemia semapv:UnspecifiedMatching MONDO:0011628 propionic acidemia skos:exactMatch ICD10CM:E71.121 Propionic acidemia semapv:UnspecifiedMatching MONDO:0011628 propionic acidemia skos:exactMatch MEDGEN:75694 semapv:UnspecifiedMatching MONDO:0011628 propionic acidemia skos:exactMatch NCIT:C85030 Propionic Acidemia semapv:UnspecifiedMatching MONDO:0011628 propionic acidemia skos:exactMatch OMIM:606054 propionic acidemia semapv:UnspecifiedMatching MONDO:0011628 propionic acidemia skos:exactMatch Orphanet:35 Propionic acidemia semapv:UnspecifiedMatching MONDO:0011628 propionic acidemia skos:exactMatch SCTID:69080001 semapv:UnspecifiedMatching MONDO:0011628 propionic acidemia skos:exactMatch UMLS:C0268579 semapv:UnspecifiedMatching MONDO:0011628 propionic acidemia skos:exactMatch mesh:D056693 semapv:UnspecifiedMatching MONDO:0011629 MOGS-congenital disorder of glycosylation skos:exactMatch DOID:0070254 congenital disorder of glycosylation type IIb semapv:UnspecifiedMatching MONDO:0011629 MOGS-congenital disorder of glycosylation skos:exactMatch MEDGEN:342954 semapv:UnspecifiedMatching MONDO:0011629 MOGS-congenital disorder of glycosylation skos:exactMatch OMIM:606056 congenital disorder of glycosylation, type iib semapv:UnspecifiedMatching MONDO:0011629 MOGS-congenital disorder of glycosylation skos:exactMatch Orphanet:79330 MOGS-CDG semapv:UnspecifiedMatching MONDO:0011629 MOGS-congenital disorder of glycosylation skos:exactMatch SCTID:725028009 semapv:UnspecifiedMatching MONDO:0011629 MOGS-congenital disorder of glycosylation skos:exactMatch UMLS:C1853736 semapv:UnspecifiedMatching MONDO:0011629 MOGS-congenital disorder of glycosylation skos:exactMatch mesh:C565264 semapv:UnspecifiedMatching MONDO:0011630 retinitis pigmentosa 28 skos:exactMatch DOID:0110365 retinitis pigmentosa 28 semapv:UnspecifiedMatching MONDO:0011630 retinitis pigmentosa 28 skos:exactMatch MEDGEN:244030 semapv:UnspecifiedMatching MONDO:0011630 retinitis pigmentosa 28 skos:exactMatch OMIM:606068 retinitis pigmentosa 28 semapv:UnspecifiedMatching MONDO:0011630 retinitis pigmentosa 28 skos:exactMatch UMLS:C1419614 semapv:UnspecifiedMatching MONDO:0011631 hemochromatosis type 4 skos:exactMatch DOID:0111028 hemochromatosis type 4 semapv:UnspecifiedMatching MONDO:0011631 hemochromatosis type 4 skos:exactMatch MEDGEN:340044 semapv:UnspecifiedMatching MONDO:0011631 hemochromatosis type 4 skos:exactMatch OMIM:606069 hemochromatosis, type 4 semapv:UnspecifiedMatching MONDO:0011631 hemochromatosis type 4 skos:exactMatch Orphanet:647834 SLC40A1-related hemochromatosis semapv:UnspecifiedMatching MONDO:0011631 hemochromatosis type 4 skos:exactMatch Orphanet:648562 Ferroportin disease semapv:UnspecifiedMatching MONDO:0011631 hemochromatosis type 4 skos:exactMatch SCTID:719975002 semapv:UnspecifiedMatching MONDO:0011631 hemochromatosis type 4 skos:exactMatch UMLS:C1853733 semapv:UnspecifiedMatching MONDO:0011631 hemochromatosis type 4 skos:exactMatch mesh:C537249 semapv:UnspecifiedMatching MONDO:0011632 amyotrophic lateral sclerosis type 21 skos:exactMatch DOID:0060212 amyotrophic lateral sclerosis type 21 semapv:UnspecifiedMatching MONDO:0011632 amyotrophic lateral sclerosis type 21 skos:exactMatch MEDGEN:813851 semapv:UnspecifiedMatching MONDO:0011632 amyotrophic lateral sclerosis type 21 skos:exactMatch NCIT:C168755 Amyotrophic Lateral Sclerosis 21 semapv:UnspecifiedMatching MONDO:0011632 amyotrophic lateral sclerosis type 21 skos:exactMatch OMIM:606070 amyotrophic lateral sclerosis 21 semapv:UnspecifiedMatching MONDO:0011632 amyotrophic lateral sclerosis type 21 skos:exactMatch UMLS:C3807521 semapv:UnspecifiedMatching MONDO:0011633 Charcot-Marie-Tooth disease axonal type 2C skos:exactMatch DOID:0110182 Charcot-Marie-Tooth disease axonal type 2C semapv:UnspecifiedMatching MONDO:0011633 Charcot-Marie-Tooth disease axonal type 2C skos:exactMatch MEDGEN:342947 semapv:UnspecifiedMatching MONDO:0011633 Charcot-Marie-Tooth disease axonal type 2C skos:exactMatch OMIM:606071 hereditary motor and sensory neuropathy, type 2c semapv:UnspecifiedMatching MONDO:0011633 Charcot-Marie-Tooth disease axonal type 2C skos:exactMatch Orphanet:99937 Autosomal dominant Charcot-Marie-Tooth disease type 2C semapv:UnspecifiedMatching MONDO:0011633 Charcot-Marie-Tooth disease axonal type 2C skos:exactMatch SCTID:717010007 semapv:UnspecifiedMatching MONDO:0011633 Charcot-Marie-Tooth disease axonal type 2C skos:exactMatch UMLS:C1853710 semapv:UnspecifiedMatching MONDO:0011634 rippling muscle disease skos:exactMatch MEDGEN:342944 semapv:UnspecifiedMatching MONDO:0011634 rippling muscle disease skos:exactMatch SCTID:709281006 semapv:UnspecifiedMatching MONDO:0011634 rippling muscle disease skos:exactMatch UMLS:C1853698 semapv:UnspecifiedMatching MONDO:0011634 rippling muscle disease skos:exactMatch icd11.foundation:894802822 Rippling muscle disease semapv:UnspecifiedMatching MONDO:0011635 goiter, multinodular 3 skos:exactMatch MEDGEN:342940 semapv:UnspecifiedMatching MONDO:0011635 goiter, multinodular 3 skos:exactMatch OMIM:606082 goiter, multinodular 3 semapv:UnspecifiedMatching MONDO:0011635 goiter, multinodular 3 skos:exactMatch UMLS:C1853686 semapv:UnspecifiedMatching MONDO:0011635 goiter, multinodular 3 skos:exactMatch mesh:C565260 semapv:UnspecifiedMatching MONDO:0011636 Diamond-Blackfan anemia 2 skos:exactMatch DOID:0111885 Diamond-Blackfan anemia 2 semapv:UnspecifiedMatching MONDO:0011636 Diamond-Blackfan anemia 2 skos:exactMatch MEDGEN:344104 semapv:UnspecifiedMatching MONDO:0011636 Diamond-Blackfan anemia 2 skos:exactMatch OMIM:606129 diamond-blackfan anemia 2 semapv:UnspecifiedMatching MONDO:0011636 Diamond-Blackfan anemia 2 skos:exactMatch UMLS:C1853666 semapv:UnspecifiedMatching MONDO:0011636 Diamond-Blackfan anemia 2 skos:exactMatch mesh:C536130 semapv:UnspecifiedMatching MONDO:0011637 Sener syndrome skos:exactMatch MEDGEN:342924 semapv:UnspecifiedMatching MONDO:0011637 Sener syndrome skos:exactMatch OMIM:606156 sener syndrome semapv:UnspecifiedMatching MONDO:0011637 Sener syndrome skos:exactMatch UMLS:C1853616 semapv:UnspecifiedMatching MONDO:0011637 Sener syndrome skos:exactMatch mesh:C537579 semapv:UnspecifiedMatching MONDO:0011638 neuroferritinopathy skos:exactMatch DOID:0110737 neurodegeneration with brain iron accumulation 3 semapv:UnspecifiedMatching MONDO:0011638 neuroferritinopathy skos:exactMatch MEDGEN:381211 semapv:UnspecifiedMatching MONDO:0011638 neuroferritinopathy skos:exactMatch OMIM:606159 neurodegeneration with brain iron accumulation 3 semapv:UnspecifiedMatching MONDO:0011638 neuroferritinopathy skos:exactMatch Orphanet:157846 Neuroferritinopathy semapv:UnspecifiedMatching MONDO:0011638 neuroferritinopathy skos:exactMatch SCTID:699299001 semapv:UnspecifiedMatching MONDO:0011638 neuroferritinopathy skos:exactMatch UMLS:C1853578 semapv:UnspecifiedMatching MONDO:0011638 neuroferritinopathy skos:exactMatch mesh:C548080 semapv:UnspecifiedMatching MONDO:0011639 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis skos:exactMatch DOID:0111894 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis semapv:UnspecifiedMatching MONDO:0011639 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis skos:exactMatch MEDGEN:902755 semapv:UnspecifiedMatching MONDO:0011639 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis skos:exactMatch OMIM:606164 diamond-blackfan anemia 15 with mandibulofacial dysostosis semapv:UnspecifiedMatching MONDO:0011639 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis skos:exactMatch UMLS:C4225411 semapv:UnspecifiedMatching MONDO:0011640 genitopatellar syndrome skos:exactMatch MEDGEN:381208 semapv:UnspecifiedMatching MONDO:0011640 genitopatellar syndrome skos:exactMatch OMIM:606170 genitopatellar syndrome semapv:UnspecifiedMatching MONDO:0011640 genitopatellar syndrome skos:exactMatch Orphanet:85201 Genitopatellar syndrome semapv:UnspecifiedMatching MONDO:0011640 genitopatellar syndrome skos:exactMatch SCTID:702367005 semapv:UnspecifiedMatching MONDO:0011640 genitopatellar syndrome skos:exactMatch UMLS:C1853566 semapv:UnspecifiedMatching MONDO:0011640 genitopatellar syndrome skos:exactMatch mesh:C565255 semapv:UnspecifiedMatching MONDO:0011641 baculum, congenital absence of skos:exactMatch MEDGEN:344078 semapv:UnspecifiedMatching MONDO:0011641 baculum, congenital absence of skos:exactMatch OMIM:606174 baculum, congenital absence of semapv:UnspecifiedMatching MONDO:0011641 baculum, congenital absence of skos:exactMatch UMLS:C1853565 semapv:UnspecifiedMatching MONDO:0011642 carnitine acetyltransferase deficiency skos:exactMatch MEDGEN:257042 semapv:UnspecifiedMatching MONDO:0011642 carnitine acetyltransferase deficiency skos:exactMatch OMIM:606175 carnitine acetyltransferase deficiency semapv:UnspecifiedMatching MONDO:0011642 carnitine acetyltransferase deficiency skos:exactMatch SCTID:124257002 semapv:UnspecifiedMatching MONDO:0011642 carnitine acetyltransferase deficiency skos:exactMatch UMLS:C1443228 semapv:UnspecifiedMatching MONDO:0011642 carnitine acetyltransferase deficiency skos:exactMatch mesh:C563249 semapv:UnspecifiedMatching MONDO:0011644 pars planitis skos:exactMatch DOID:12731 pars planitis semapv:UnspecifiedMatching MONDO:0011644 pars planitis skos:exactMatch EFO:1001088 semapv:UnspecifiedMatching MONDO:0011644 pars planitis skos:exactMatch MEDGEN:14623 semapv:UnspecifiedMatching MONDO:0011644 pars planitis skos:exactMatch NCIT:C34903 Pars Planitis semapv:UnspecifiedMatching MONDO:0011644 pars planitis skos:exactMatch OMIM:606177 pars planitis semapv:UnspecifiedMatching MONDO:0011644 pars planitis skos:exactMatch SCTID:314428001 semapv:UnspecifiedMatching MONDO:0011644 pars planitis skos:exactMatch UMLS:C0030593 semapv:UnspecifiedMatching MONDO:0011644 pars planitis skos:exactMatch icd11.foundation:127977237 Pars planitis semapv:UnspecifiedMatching MONDO:0011644 pars planitis skos:exactMatch mesh:D015868 semapv:UnspecifiedMatching MONDO:0011646 laryngeal abductor paralysis with cerebellar ataxia and motor neuropathy skos:exactMatch MEDGEN:381205 semapv:UnspecifiedMatching MONDO:0011646 laryngeal abductor paralysis with cerebellar ataxia and motor neuropathy skos:exactMatch OMIM:606183 laryngeal abductor paralysis with cerebellar ataxia and motor neuropathy semapv:UnspecifiedMatching MONDO:0011646 laryngeal abductor paralysis with cerebellar ataxia and motor neuropathy skos:exactMatch UMLS:C1853556 semapv:UnspecifiedMatching MONDO:0011646 laryngeal abductor paralysis with cerebellar ataxia and motor neuropathy skos:exactMatch mesh:C565252 semapv:UnspecifiedMatching MONDO:0011647 Alzheimer disease 7 skos:exactMatch DOID:0110039 Alzheimer's disease 7 semapv:UnspecifiedMatching MONDO:0011647 Alzheimer disease 7 skos:exactMatch MEDGEN:342907 semapv:UnspecifiedMatching MONDO:0011647 Alzheimer disease 7 skos:exactMatch OMIM:606187 alzheimer disease 7 semapv:UnspecifiedMatching MONDO:0011647 Alzheimer disease 7 skos:exactMatch UMLS:C1853555 semapv:UnspecifiedMatching MONDO:0011647 Alzheimer disease 7 skos:exactMatch mesh:C565251 semapv:UnspecifiedMatching MONDO:0011648 radiation-induced meningioma skos:exactMatch MEDGEN:381204 semapv:UnspecifiedMatching MONDO:0011648 radiation-induced meningioma skos:exactMatch OMIM:606190 meningioma, radiation-induced semapv:UnspecifiedMatching MONDO:0011648 radiation-induced meningioma skos:exactMatch UMLS:C1853554 semapv:UnspecifiedMatching MONDO:0011648 radiation-induced meningioma skos:exactMatch mesh:C536266 semapv:UnspecifiedMatching MONDO:0011650 atrioventricular septal defect, susceptibility to, 2 skos:exactMatch MEDGEN:381193 semapv:UnspecifiedMatching MONDO:0011650 atrioventricular septal defect, susceptibility to, 2 skos:exactMatch OMIM:606217 atrioventricular septal defect, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0011650 atrioventricular septal defect, susceptibility to, 2 skos:exactMatch UMLS:C1853508 semapv:UnspecifiedMatching MONDO:0011650 atrioventricular septal defect, susceptibility to, 2 skos:exactMatch mesh:C565249 semapv:UnspecifiedMatching MONDO:0011651 intellectual disability, short stature, facial anomalies, and joint dislocations skos:exactMatch MEDGEN:342897 semapv:UnspecifiedMatching MONDO:0011651 intellectual disability, short stature, facial anomalies, and joint dislocations skos:exactMatch OMIM:606220 intellectual developmental disorder with short stature, facial anomalies, and speech defects semapv:UnspecifiedMatching MONDO:0011651 intellectual disability, short stature, facial anomalies, and joint dislocations skos:exactMatch UMLS:C1853507 semapv:UnspecifiedMatching MONDO:0011651 intellectual disability, short stature, facial anomalies, and joint dislocations skos:exactMatch mesh:C565248 semapv:UnspecifiedMatching MONDO:0011652 Phelan-McDermid syndrome skos:exactMatch DOID:0080354 Phelan-McDermid syndrome semapv:UnspecifiedMatching MONDO:0011652 Phelan-McDermid syndrome skos:exactMatch MEDGEN:339994 semapv:UnspecifiedMatching MONDO:0011652 Phelan-McDermid syndrome skos:exactMatch NCIT:C157124 Phelan-McDermid Syndrome semapv:UnspecifiedMatching MONDO:0011652 Phelan-McDermid syndrome skos:exactMatch OMIM:606232 phelan-mcdermid syndrome semapv:UnspecifiedMatching MONDO:0011652 Phelan-McDermid syndrome skos:exactMatch Orphanet:48652 Phelan-McDermid syndrome semapv:UnspecifiedMatching MONDO:0011652 Phelan-McDermid syndrome skos:exactMatch SCTID:699310000 semapv:UnspecifiedMatching MONDO:0011652 Phelan-McDermid syndrome skos:exactMatch UMLS:C1853490 semapv:UnspecifiedMatching MONDO:0011652 Phelan-McDermid syndrome skos:exactMatch mesh:C536801 semapv:UnspecifiedMatching MONDO:0011653 thyroid cancer, nonmedullary, 3 skos:exactMatch MEDGEN:903332 semapv:UnspecifiedMatching MONDO:0011653 thyroid cancer, nonmedullary, 3 skos:exactMatch OMIM:606240 thyroid cancer, nonmedullary, 3 semapv:UnspecifiedMatching MONDO:0011653 thyroid cancer, nonmedullary, 3 skos:exactMatch UMLS:C4225410 semapv:UnspecifiedMatching MONDO:0011654 intellectual disability, microcephaly, growth retardation, joint contractures, and facial dysmorphism skos:exactMatch MEDGEN:342889 semapv:UnspecifiedMatching MONDO:0011654 intellectual disability, microcephaly, growth retardation, joint contractures, and facial dysmorphism skos:exactMatch OMIM:606242 kondoh syndrome semapv:UnspecifiedMatching MONDO:0011654 intellectual disability, microcephaly, growth retardation, joint contractures, and facial dysmorphism skos:exactMatch UMLS:C1853480 semapv:UnspecifiedMatching MONDO:0011654 intellectual disability, microcephaly, growth retardation, joint contractures, and facial dysmorphism skos:exactMatch mesh:C565246 semapv:UnspecifiedMatching MONDO:0011655 alveolar soft part sarcoma skos:exactMatch DOID:4239 alveolar soft part sarcoma semapv:UnspecifiedMatching MONDO:0011655 alveolar soft part sarcoma skos:exactMatch EFO:0007143 semapv:UnspecifiedMatching MONDO:0011655 alveolar soft part sarcoma skos:exactMatch MEDGEN:61652 semapv:UnspecifiedMatching MONDO:0011655 alveolar soft part sarcoma skos:exactMatch NCIT:C3750 Alveolar Soft Part Sarcoma semapv:UnspecifiedMatching MONDO:0011655 alveolar soft part sarcoma skos:exactMatch NCIT:C7943 Adult Alveolar Soft Part Sarcoma semapv:UnspecifiedMatching MONDO:0011655 alveolar soft part sarcoma skos:exactMatch OMIM:606243 alveolar soft part sarcoma semapv:UnspecifiedMatching MONDO:0011655 alveolar soft part sarcoma skos:exactMatch Orphanet:163699 Alveolar soft tissue sarcoma semapv:UnspecifiedMatching MONDO:0011655 alveolar soft part sarcoma skos:exactMatch SCTID:404056007 semapv:UnspecifiedMatching MONDO:0011655 alveolar soft part sarcoma skos:exactMatch UMLS:C0206657 semapv:UnspecifiedMatching MONDO:0011655 alveolar soft part sarcoma skos:exactMatch mesh:D018234 semapv:UnspecifiedMatching MONDO:0011656 paget disease of bone 4 skos:exactMatch DOID:0081367 Paget's disease of bone 4 semapv:UnspecifiedMatching MONDO:0011656 paget disease of bone 4 skos:exactMatch MEDGEN:339991 semapv:UnspecifiedMatching MONDO:0011656 paget disease of bone 4 skos:exactMatch OMIM:606263 paget disease of bone 4 semapv:UnspecifiedMatching MONDO:0011656 paget disease of bone 4 skos:exactMatch UMLS:C1853473 semapv:UnspecifiedMatching MONDO:0011656 paget disease of bone 4 skos:exactMatch mesh:C565240 semapv:UnspecifiedMatching MONDO:0011657 autosomal dominant nonsyndromic hearing loss 24 skos:exactMatch DOID:0110554 autosomal dominant nonsyndromic deafness 24 semapv:UnspecifiedMatching MONDO:0011657 autosomal dominant nonsyndromic hearing loss 24 skos:exactMatch MEDGEN:377905 semapv:UnspecifiedMatching MONDO:0011657 autosomal dominant nonsyndromic hearing loss 24 skos:exactMatch OMIM:606282 deafness, autosomal dominant 24 semapv:UnspecifiedMatching MONDO:0011657 autosomal dominant nonsyndromic hearing loss 24 skos:exactMatch UMLS:C1853451 semapv:UnspecifiedMatching MONDO:0011657 autosomal dominant nonsyndromic hearing loss 24 skos:exactMatch mesh:C565239 semapv:UnspecifiedMatching MONDO:0011658 autosomal recessive early-onset Parkinson disease 7 skos:exactMatch DOID:0060370 Parkinson's disease 7 semapv:UnspecifiedMatching MONDO:0011658 autosomal recessive early-onset Parkinson disease 7 skos:exactMatch MEDGEN:344049 semapv:UnspecifiedMatching MONDO:0011658 autosomal recessive early-onset Parkinson disease 7 skos:exactMatch OMIM:606324 parkinson disease 7, autosomal recessive early-onset semapv:UnspecifiedMatching MONDO:0011658 autosomal recessive early-onset Parkinson disease 7 skos:exactMatch UMLS:C1853445 semapv:UnspecifiedMatching MONDO:0011658 autosomal recessive early-onset Parkinson disease 7 skos:exactMatch mesh:C565238 semapv:UnspecifiedMatching MONDO:0011659 heterotaxy, visceral, 3, autosomal skos:exactMatch DOID:0051018 visceral heterotaxy 3 semapv:UnspecifiedMatching MONDO:0011659 heterotaxy, visceral, 3, autosomal skos:exactMatch MEDGEN:339983 semapv:UnspecifiedMatching MONDO:0011659 heterotaxy, visceral, 3, autosomal skos:exactMatch OMIM:606325 heterotaxy, visceral, 3, autosomal semapv:UnspecifiedMatching MONDO:0011659 heterotaxy, visceral, 3, autosomal skos:exactMatch UMLS:C1853444 semapv:UnspecifiedMatching MONDO:0011659 heterotaxy, visceral, 3, autosomal skos:exactMatch mesh:C565237 semapv:UnspecifiedMatching MONDO:0011660 autosomal dominant nonsyndromic hearing loss 22 skos:exactMatch DOID:0110552 autosomal dominant nonsyndromic deafness 22 semapv:UnspecifiedMatching MONDO:0011660 autosomal dominant nonsyndromic hearing loss 22 skos:exactMatch MEDGEN:419894 semapv:UnspecifiedMatching MONDO:0011660 autosomal dominant nonsyndromic hearing loss 22 skos:exactMatch OMIM:606346 deafness, autosomal dominant 22 semapv:UnspecifiedMatching MONDO:0011660 autosomal dominant nonsyndromic hearing loss 22 skos:exactMatch UMLS:C2931767 semapv:UnspecifiedMatching MONDO:0011660 autosomal dominant nonsyndromic hearing loss 22 skos:exactMatch mesh:C538197 semapv:UnspecifiedMatching MONDO:0011661 inflammatory bowel disease 5 skos:exactMatch DOID:0110889 inflammatory bowel disease 5 semapv:UnspecifiedMatching MONDO:0011661 inflammatory bowel disease 5 skos:exactMatch MEDGEN:342879 semapv:UnspecifiedMatching MONDO:0011661 inflammatory bowel disease 5 skos:exactMatch OMIM:606348 inflammatory bowel disease 5 semapv:UnspecifiedMatching MONDO:0011661 inflammatory bowel disease 5 skos:exactMatch UMLS:C1853438 semapv:UnspecifiedMatching MONDO:0011661 inflammatory bowel disease 5 skos:exactMatch mesh:C565234 semapv:UnspecifiedMatching MONDO:0011662 pathological gambling skos:exactMatch DOID:12399 pathological gambling semapv:UnspecifiedMatching MONDO:0011662 pathological gambling skos:exactMatch EFO:1001926 semapv:UnspecifiedMatching MONDO:0011662 pathological gambling skos:exactMatch ICD10CM:F63.0 Pathological gambling semapv:UnspecifiedMatching MONDO:0011662 pathological gambling skos:exactMatch MEDGEN:14632 semapv:UnspecifiedMatching MONDO:0011662 pathological gambling skos:exactMatch NCIT:C94335 Pathological Gambling semapv:UnspecifiedMatching MONDO:0011662 pathological gambling skos:exactMatch OMIM:606349 gambling, pathologic semapv:UnspecifiedMatching MONDO:0011662 pathological gambling skos:exactMatch SCTID:18085000 semapv:UnspecifiedMatching MONDO:0011662 pathological gambling skos:exactMatch UMLS:C0030662 semapv:UnspecifiedMatching MONDO:0011662 pathological gambling skos:exactMatch mesh:D005715 semapv:UnspecifiedMatching MONDO:0011663 juvenile primary lateral sclerosis skos:exactMatch MEDGEN:342870 semapv:UnspecifiedMatching MONDO:0011663 juvenile primary lateral sclerosis skos:exactMatch OMIM:606353 primary lateral sclerosis, juvenile semapv:UnspecifiedMatching MONDO:0011663 juvenile primary lateral sclerosis skos:exactMatch Orphanet:247604 Juvenile primary lateral sclerosis semapv:UnspecifiedMatching MONDO:0011663 juvenile primary lateral sclerosis skos:exactMatch SCTID:717964007 semapv:UnspecifiedMatching MONDO:0011663 juvenile primary lateral sclerosis skos:exactMatch UMLS:C1853396 semapv:UnspecifiedMatching MONDO:0011663 juvenile primary lateral sclerosis skos:exactMatch mesh:C536416 semapv:UnspecifiedMatching MONDO:0011664 immunodeficiency due to CD25 deficiency skos:exactMatch DOID:0111968 immunodeficiency 41 semapv:UnspecifiedMatching MONDO:0011664 immunodeficiency due to CD25 deficiency skos:exactMatch MEDGEN:377894 semapv:UnspecifiedMatching MONDO:0011664 immunodeficiency due to CD25 deficiency skos:exactMatch OMIM:606367 immunodeficiency 41 with lymphoproliferation and autoimmunity semapv:UnspecifiedMatching MONDO:0011664 immunodeficiency due to CD25 deficiency skos:exactMatch Orphanet:169100 Immunodeficiency due to CD25 deficiency semapv:UnspecifiedMatching MONDO:0011664 immunodeficiency due to CD25 deficiency skos:exactMatch UMLS:C1853392 semapv:UnspecifiedMatching MONDO:0011664 immunodeficiency due to CD25 deficiency skos:exactMatch icd11.foundation:1705860123 Immunodeficiency due to CD25 deficiency semapv:UnspecifiedMatching MONDO:0011664 immunodeficiency due to CD25 deficiency skos:exactMatch mesh:C565232 semapv:UnspecifiedMatching MONDO:0011667 maturity-onset diabetes of the young type 4 skos:exactMatch DOID:0111103 maturity-onset diabetes of the young type 4 semapv:UnspecifiedMatching MONDO:0011667 maturity-onset diabetes of the young type 4 skos:exactMatch MEDGEN:318863 semapv:UnspecifiedMatching MONDO:0011667 maturity-onset diabetes of the young type 4 skos:exactMatch NCIT:C129746 PDX1-Associated Monogenic Diabetes semapv:UnspecifiedMatching MONDO:0011667 maturity-onset diabetes of the young type 4 skos:exactMatch OMIM:606392 maturity-onset diabetes of the young, type 4 semapv:UnspecifiedMatching MONDO:0011667 maturity-onset diabetes of the young type 4 skos:exactMatch SCTID:609571007 semapv:UnspecifiedMatching MONDO:0011667 maturity-onset diabetes of the young type 4 skos:exactMatch UMLS:C1833382 semapv:UnspecifiedMatching MONDO:0011667 maturity-onset diabetes of the young type 4 skos:exactMatch mesh:C563451 semapv:UnspecifiedMatching MONDO:0011668 maturity-onset diabetes of the young type 6 skos:exactMatch DOID:0111104 maturity-onset diabetes of the young type 6 semapv:UnspecifiedMatching MONDO:0011668 maturity-onset diabetes of the young type 6 skos:exactMatch MEDGEN:344030 semapv:UnspecifiedMatching MONDO:0011668 maturity-onset diabetes of the young type 6 skos:exactMatch NCIT:C129745 Neurogenic Differentiation Factor 1-Associated Monogenic Diabetes semapv:UnspecifiedMatching MONDO:0011668 maturity-onset diabetes of the young type 6 skos:exactMatch OMIM:606394 maturity-onset diabetes of the young, type 6 semapv:UnspecifiedMatching MONDO:0011668 maturity-onset diabetes of the young type 6 skos:exactMatch SCTID:609573005 semapv:UnspecifiedMatching MONDO:0011668 maturity-onset diabetes of the young type 6 skos:exactMatch UMLS:C1853371 semapv:UnspecifiedMatching MONDO:0011668 maturity-onset diabetes of the young type 6 skos:exactMatch mesh:C565231 semapv:UnspecifiedMatching MONDO:0011669 hypotonia-cystinuria syndrome skos:exactMatch DOID:0060858 hypotonia-cystinuria syndrome semapv:UnspecifiedMatching MONDO:0011669 hypotonia-cystinuria syndrome skos:exactMatch MEDGEN:341133 semapv:UnspecifiedMatching MONDO:0011669 hypotonia-cystinuria syndrome skos:exactMatch OMIM:606407 hypotonia-cystinuria syndrome semapv:UnspecifiedMatching MONDO:0011669 hypotonia-cystinuria syndrome skos:exactMatch Orphanet:163690 Hypotonia-cystinuria syndrome semapv:UnspecifiedMatching MONDO:0011669 hypotonia-cystinuria syndrome skos:exactMatch Orphanet:238517 Hypotonia-cystinuria type 1 syndrome semapv:UnspecifiedMatching MONDO:0011669 hypotonia-cystinuria syndrome skos:exactMatch SCTID:721173005 semapv:UnspecifiedMatching MONDO:0011669 hypotonia-cystinuria syndrome skos:exactMatch UMLS:C1848030 semapv:UnspecifiedMatching MONDO:0011669 hypotonia-cystinuria syndrome skos:exactMatch icd11.foundation:1742079513 Hypotonia-cystinuria syndrome semapv:UnspecifiedMatching MONDO:0011669 hypotonia-cystinuria syndrome skos:exactMatch icd11.foundation:1852649756 Hypotonia-cystinuria type 1 semapv:UnspecifiedMatching MONDO:0011669 hypotonia-cystinuria syndrome skos:exactMatch mesh:C564710 semapv:UnspecifiedMatching MONDO:0011670 Ehlers-Danlos syndrome due to tenascin-X deficiency skos:exactMatch DOID:0080731 Ehlers-Danlos syndrome classic-like 1 semapv:UnspecifiedMatching MONDO:0011670 Ehlers-Danlos syndrome due to tenascin-X deficiency skos:exactMatch MEDGEN:336244 semapv:UnspecifiedMatching MONDO:0011670 Ehlers-Danlos syndrome due to tenascin-X deficiency skos:exactMatch OMIM:606408 ehlers-danlos syndrome, classic-like, 1 semapv:UnspecifiedMatching MONDO:0011670 Ehlers-Danlos syndrome due to tenascin-X deficiency skos:exactMatch Orphanet:230839 Classical-like Ehlers-Danlos syndrome type 1 semapv:UnspecifiedMatching MONDO:0011670 Ehlers-Danlos syndrome due to tenascin-X deficiency skos:exactMatch UMLS:C1848029 semapv:UnspecifiedMatching MONDO:0011670 Ehlers-Danlos syndrome due to tenascin-X deficiency skos:exactMatch icd11.foundation:1840696236 Ehlers-Danlos syndrome due to tenascin-X deficiency semapv:UnspecifiedMatching MONDO:0011670 Ehlers-Danlos syndrome due to tenascin-X deficiency skos:exactMatch mesh:C536193 semapv:UnspecifiedMatching MONDO:0011671 Huntington disease-like 2 skos:exactMatch DOID:0090104 Huntington's disease-like 2 semapv:UnspecifiedMatching MONDO:0011671 Huntington disease-like 2 skos:exactMatch MEDGEN:341120 semapv:UnspecifiedMatching MONDO:0011671 Huntington disease-like 2 skos:exactMatch OMIM:606438 huntington disease-like 2 semapv:UnspecifiedMatching MONDO:0011671 Huntington disease-like 2 skos:exactMatch Orphanet:98934 Huntington disease-like 2 semapv:UnspecifiedMatching MONDO:0011671 Huntington disease-like 2 skos:exactMatch SCTID:721228006 semapv:UnspecifiedMatching MONDO:0011671 Huntington disease-like 2 skos:exactMatch UMLS:C1847987 semapv:UnspecifiedMatching MONDO:0011671 Huntington disease-like 2 skos:exactMatch mesh:C564708 semapv:UnspecifiedMatching MONDO:0011672 persistent polyclonal B-cell lymphocytosis skos:exactMatch MEDGEN:341117 semapv:UnspecifiedMatching MONDO:0011672 persistent polyclonal B-cell lymphocytosis skos:exactMatch OMIM:606445 persistent polyclonal b-cell lymphocytosis semapv:UnspecifiedMatching MONDO:0011672 persistent polyclonal B-cell lymphocytosis skos:exactMatch Orphanet:300324 Persistent polyclonal B-cell lymphocytosis semapv:UnspecifiedMatching MONDO:0011672 persistent polyclonal B-cell lymphocytosis skos:exactMatch SCTID:763864008 semapv:UnspecifiedMatching MONDO:0011672 persistent polyclonal B-cell lymphocytosis skos:exactMatch UMLS:C1847973 semapv:UnspecifiedMatching MONDO:0011672 persistent polyclonal B-cell lymphocytosis skos:exactMatch mesh:C564707 semapv:UnspecifiedMatching MONDO:0011673 autosomal dominant nonsyndromic hearing loss 30 skos:exactMatch DOID:0110560 autosomal dominant nonsyndromic deafness 30 semapv:UnspecifiedMatching MONDO:0011673 autosomal dominant nonsyndromic hearing loss 30 skos:exactMatch MEDGEN:341116 semapv:UnspecifiedMatching MONDO:0011673 autosomal dominant nonsyndromic hearing loss 30 skos:exactMatch OMIM:606451 deafness, autosomal dominant 30 semapv:UnspecifiedMatching MONDO:0011673 autosomal dominant nonsyndromic hearing loss 30 skos:exactMatch UMLS:C1847972 semapv:UnspecifiedMatching MONDO:0011673 autosomal dominant nonsyndromic hearing loss 30 skos:exactMatch mesh:C564706 semapv:UnspecifiedMatching MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B skos:exactMatch DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B semapv:UnspecifiedMatching MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B skos:exactMatch MEDGEN:338346 semapv:UnspecifiedMatching MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B skos:exactMatch OMIM:606482 charcot-marie-tooth disease, dominant intermediate B semapv:UnspecifiedMatching MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B skos:exactMatch Orphanet:100044 Autosomal dominant intermediate Charcot-Marie-Tooth disease type B semapv:UnspecifiedMatching MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B skos:exactMatch SCTID:765745007 semapv:UnspecifiedMatching MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B skos:exactMatch UMLS:C1847902 semapv:UnspecifiedMatching MONDO:0011675 Charcot-Marie-Tooth Disease, axonal, type 2GG skos:exactMatch DOID:0110202 Charcot-Marie-Tooth disease dominant intermediate A semapv:UnspecifiedMatching MONDO:0011675 Charcot-Marie-Tooth Disease, axonal, type 2GG skos:exactMatch MEDGEN:1794143 semapv:UnspecifiedMatching MONDO:0011675 Charcot-Marie-Tooth Disease, axonal, type 2GG skos:exactMatch OMIM:606483 charcot-marie-tooth disease, axonal, type 2gg semapv:UnspecifiedMatching MONDO:0011675 Charcot-Marie-Tooth Disease, axonal, type 2GG skos:exactMatch Orphanet:100043 Autosomal dominant intermediate Charcot-Marie-Tooth disease type A semapv:UnspecifiedMatching MONDO:0011675 Charcot-Marie-Tooth Disease, axonal, type 2GG skos:exactMatch SCTID:765744006 semapv:UnspecifiedMatching MONDO:0011675 Charcot-Marie-Tooth Disease, axonal, type 2GG skos:exactMatch UMLS:C5561933 semapv:UnspecifiedMatching MONDO:0011675 Charcot-Marie-Tooth Disease, axonal, type 2GG skos:exactMatch mesh:C564702 semapv:UnspecifiedMatching MONDO:0011676 PHACE syndrome skos:exactMatch MEDGEN:376231 semapv:UnspecifiedMatching MONDO:0011676 PHACE syndrome skos:exactMatch OMIM:606519 phace association semapv:UnspecifiedMatching MONDO:0011676 PHACE syndrome skos:exactMatch Orphanet:42775 PHACE syndrome semapv:UnspecifiedMatching MONDO:0011676 PHACE syndrome skos:exactMatch UMLS:C1847874 semapv:UnspecifiedMatching MONDO:0011676 PHACE syndrome skos:exactMatch icd11.foundation:1825849023 PHACE syndrome semapv:UnspecifiedMatching MONDO:0011677 Megarbane syndrome skos:exactMatch MEDGEN:339864 semapv:UnspecifiedMatching MONDO:0011677 Megarbane syndrome skos:exactMatch OMIM:606527 megarbane syndrome semapv:UnspecifiedMatching MONDO:0011677 Megarbane syndrome skos:exactMatch UMLS:C1847871 semapv:UnspecifiedMatching MONDO:0011677 Megarbane syndrome skos:exactMatch mesh:C536145 semapv:UnspecifiedMatching MONDO:0011678 homozygous 11P15-p14 deletion syndrome skos:exactMatch MEDGEN:338336 semapv:UnspecifiedMatching MONDO:0011678 homozygous 11P15-p14 deletion syndrome skos:exactMatch OMIM:606528 homozygous 11p15-p14 deletion syndrome semapv:UnspecifiedMatching MONDO:0011678 homozygous 11P15-p14 deletion syndrome skos:exactMatch UMLS:C1847866 semapv:UnspecifiedMatching MONDO:0011678 homozygous 11P15-p14 deletion syndrome skos:exactMatch mesh:C564701 semapv:UnspecifiedMatching MONDO:0011679 craniosynostosis syndrome, autosomal recessive skos:exactMatch MEDGEN:338335 semapv:UnspecifiedMatching MONDO:0011679 craniosynostosis syndrome, autosomal recessive skos:exactMatch OMIM:606529 craniosynostosis syndrome, autosomal recessive semapv:UnspecifiedMatching MONDO:0011679 craniosynostosis syndrome, autosomal recessive skos:exactMatch UMLS:C1847865 semapv:UnspecifiedMatching MONDO:0011679 craniosynostosis syndrome, autosomal recessive skos:exactMatch mesh:C564700 semapv:UnspecifiedMatching MONDO:0011680 autosomal recessive congenital ichthyosis 3 skos:exactMatch DOID:0060711 autosomal recessive congenital ichthyosis 3 semapv:UnspecifiedMatching MONDO:0011680 autosomal recessive congenital ichthyosis 3 skos:exactMatch MEDGEN:761665 semapv:UnspecifiedMatching MONDO:0011680 autosomal recessive congenital ichthyosis 3 skos:exactMatch OMIM:606545 ichthyosis, congenital, autosomal recessive 3 semapv:UnspecifiedMatching MONDO:0011680 autosomal recessive congenital ichthyosis 3 skos:exactMatch UMLS:C3539888 semapv:UnspecifiedMatching MONDO:0011680 autosomal recessive congenital ichthyosis 3 skos:exactMatch mesh:C564699 semapv:UnspecifiedMatching MONDO:0011681 episodic ataxia type 4 skos:exactMatch DOID:0050992 episodic ataxia type 4 semapv:UnspecifiedMatching MONDO:0011681 episodic ataxia type 4 skos:exactMatch MEDGEN:376222 semapv:UnspecifiedMatching MONDO:0011681 episodic ataxia type 4 skos:exactMatch OMIM:606552 episodic ataxia, type 4 semapv:UnspecifiedMatching MONDO:0011681 episodic ataxia type 4 skos:exactMatch Orphanet:79136 Episodic ataxia type 4 semapv:UnspecifiedMatching MONDO:0011681 episodic ataxia type 4 skos:exactMatch SCTID:718754008 semapv:UnspecifiedMatching MONDO:0011681 episodic ataxia type 4 skos:exactMatch UMLS:C1847843 semapv:UnspecifiedMatching MONDO:0011681 episodic ataxia type 4 skos:exactMatch icd11.foundation:1119711189 Episodic ataxia type 4 semapv:UnspecifiedMatching MONDO:0011681 episodic ataxia type 4 skos:exactMatch mesh:C564698 semapv:UnspecifiedMatching MONDO:0011682 episodic ataxia type 3 skos:exactMatch DOID:0050991 episodic ataxia type 3 semapv:UnspecifiedMatching MONDO:0011682 episodic ataxia type 3 skos:exactMatch MEDGEN:376220 semapv:UnspecifiedMatching MONDO:0011682 episodic ataxia type 3 skos:exactMatch OMIM:606554 episodic ataxia, type 3 semapv:UnspecifiedMatching MONDO:0011682 episodic ataxia type 3 skos:exactMatch Orphanet:79135 Episodic ataxia type 3 semapv:UnspecifiedMatching MONDO:0011682 episodic ataxia type 3 skos:exactMatch SCTID:718755009 semapv:UnspecifiedMatching MONDO:0011682 episodic ataxia type 3 skos:exactMatch UMLS:C1847839 semapv:UnspecifiedMatching MONDO:0011682 episodic ataxia type 3 skos:exactMatch mesh:C564697 semapv:UnspecifiedMatching MONDO:0011683 oculocutaneous albinism type 4 skos:exactMatch DOID:0070098 oculocutaneous albinism type IV semapv:UnspecifiedMatching MONDO:0011683 oculocutaneous albinism type 4 skos:exactMatch MEDGEN:338324 semapv:UnspecifiedMatching MONDO:0011683 oculocutaneous albinism type 4 skos:exactMatch OMIM:606574 albinism, oculocutaneous, type 4 semapv:UnspecifiedMatching MONDO:0011683 oculocutaneous albinism type 4 skos:exactMatch Orphanet:79435 Oculocutaneous albinism type 4 semapv:UnspecifiedMatching MONDO:0011683 oculocutaneous albinism type 4 skos:exactMatch SCTID:715632003 semapv:UnspecifiedMatching MONDO:0011683 oculocutaneous albinism type 4 skos:exactMatch UMLS:C1847836 semapv:UnspecifiedMatching MONDO:0011683 oculocutaneous albinism type 4 skos:exactMatch icd11.foundation:1286886811 Oculocutaneous albinism type 4 semapv:UnspecifiedMatching MONDO:0011683 oculocutaneous albinism type 4 skos:exactMatch mesh:C564696 semapv:UnspecifiedMatching MONDO:0011684 vitiligo-associated multiple autoimmune disease susceptibility 1 skos:exactMatch MEDGEN:335788 semapv:UnspecifiedMatching MONDO:0011684 vitiligo-associated multiple autoimmune disease susceptibility 1 skos:exactMatch OMIM:606579 vitiligo-associated multiple autoimmune disease susceptibility 1 semapv:UnspecifiedMatching MONDO:0011684 vitiligo-associated multiple autoimmune disease susceptibility 1 skos:exactMatch UMLS:C1847835 semapv:UnspecifiedMatching MONDO:0011685 polysubstance abuse, susceptibility to skos:exactMatch MEDGEN:339856 semapv:UnspecifiedMatching MONDO:0011685 polysubstance abuse, susceptibility to skos:exactMatch OMIM:606581 polysubstance abuse, susceptibility to semapv:UnspecifiedMatching MONDO:0011685 polysubstance abuse, susceptibility to skos:exactMatch UMLS:C1847831 semapv:UnspecifiedMatching MONDO:0011686 DNA ligase IV deficiency skos:exactMatch DOID:0060021 DNA ligase IV deficiency semapv:UnspecifiedMatching MONDO:0011686 DNA ligase IV deficiency skos:exactMatch MEDGEN:339855 semapv:UnspecifiedMatching MONDO:0011686 DNA ligase IV deficiency skos:exactMatch NCIT:C122657 LIG4 Syndrome semapv:UnspecifiedMatching MONDO:0011686 DNA ligase IV deficiency skos:exactMatch OMIM:606593 lig4 syndrome semapv:UnspecifiedMatching MONDO:0011686 DNA ligase IV deficiency skos:exactMatch Orphanet:99812 LIG4 syndrome semapv:UnspecifiedMatching MONDO:0011686 DNA ligase IV deficiency skos:exactMatch SCTID:724177005 semapv:UnspecifiedMatching MONDO:0011686 DNA ligase IV deficiency skos:exactMatch UMLS:C1847827 semapv:UnspecifiedMatching MONDO:0011686 DNA ligase IV deficiency skos:exactMatch mesh:C564694 semapv:UnspecifiedMatching MONDO:0011687 Charcot-Marie-Tooth disease axonal type 2F skos:exactMatch DOID:0110163 Charcot-Marie-Tooth disease axonal type 2F semapv:UnspecifiedMatching MONDO:0011687 Charcot-Marie-Tooth disease axonal type 2F skos:exactMatch MEDGEN:335784 semapv:UnspecifiedMatching MONDO:0011687 Charcot-Marie-Tooth disease axonal type 2F skos:exactMatch OMIM:606595 charcot-marie-tooth disease, axonal, type 2f semapv:UnspecifiedMatching MONDO:0011687 Charcot-Marie-Tooth disease axonal type 2F skos:exactMatch Orphanet:99940 Autosomal dominant Charcot-Marie-Tooth disease type 2F semapv:UnspecifiedMatching MONDO:0011687 Charcot-Marie-Tooth disease axonal type 2F skos:exactMatch SCTID:719510006 semapv:UnspecifiedMatching MONDO:0011687 Charcot-Marie-Tooth disease axonal type 2F skos:exactMatch UMLS:C1847823 semapv:UnspecifiedMatching MONDO:0011687 Charcot-Marie-Tooth disease axonal type 2F skos:exactMatch mesh:C535413 semapv:UnspecifiedMatching MONDO:0011688 muscular dystrophy-dystroglycanopathy type B5 skos:exactMatch DOID:0110635 muscular dystrophy-dystroglycanopathy type B5 semapv:UnspecifiedMatching MONDO:0011688 muscular dystrophy-dystroglycanopathy type B5 skos:exactMatch MEDGEN:335764 semapv:UnspecifiedMatching MONDO:0011688 muscular dystrophy-dystroglycanopathy type B5 skos:exactMatch OMIM:606612 muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type b, 5 semapv:UnspecifiedMatching MONDO:0011688 muscular dystrophy-dystroglycanopathy type B5 skos:exactMatch UMLS:C1847759 semapv:UnspecifiedMatching MONDO:0011688 muscular dystrophy-dystroglycanopathy type B5 skos:exactMatch mesh:C564691 semapv:UnspecifiedMatching MONDO:0011689 dyslexia, susceptibility to, 6 skos:exactMatch MEDGEN:335762 semapv:UnspecifiedMatching MONDO:0011689 dyslexia, susceptibility to, 6 skos:exactMatch OMIM:606616 dyslexia, susceptibility to, 6 semapv:UnspecifiedMatching MONDO:0011689 dyslexia, susceptibility to, 6 skos:exactMatch UMLS:C1847757 semapv:UnspecifiedMatching MONDO:0011690 Camurati-Engelmann disease type 2 skos:exactMatch DOID:0061230 semapv:UnspecifiedMatching MONDO:0011690 Camurati-Engelmann disease type 2 skos:exactMatch MEDGEN:419470 semapv:UnspecifiedMatching MONDO:0011690 Camurati-Engelmann disease type 2 skos:exactMatch OMIM:606631 camurati-engelmann disease 2 semapv:UnspecifiedMatching MONDO:0011690 Camurati-Engelmann disease type 2 skos:exactMatch UMLS:C2931683 semapv:UnspecifiedMatching MONDO:0011690 Camurati-Engelmann disease type 2 skos:exactMatch mesh:C537978 semapv:UnspecifiedMatching MONDO:0011691 amyotrophic lateral sclerosis type 3 skos:exactMatch DOID:0060195 amyotrophic lateral sclerosis type 3 semapv:UnspecifiedMatching MONDO:0011691 amyotrophic lateral sclerosis type 3 skos:exactMatch MEDGEN:339829 semapv:UnspecifiedMatching MONDO:0011691 amyotrophic lateral sclerosis type 3 skos:exactMatch OMIM:606640 amyotrophic lateral sclerosis 3 semapv:UnspecifiedMatching MONDO:0011691 amyotrophic lateral sclerosis type 3 skos:exactMatch UMLS:C1847735 semapv:UnspecifiedMatching MONDO:0011691 amyotrophic lateral sclerosis type 3 skos:exactMatch mesh:C564688 semapv:UnspecifiedMatching MONDO:0011693 glaucoma, normal tension, susceptibility to skos:exactMatch MEDGEN:335756 semapv:UnspecifiedMatching MONDO:0011693 glaucoma, normal tension, susceptibility to skos:exactMatch OMIM:606657 glaucoma, normal tension, susceptibility to semapv:UnspecifiedMatching MONDO:0011693 glaucoma, normal tension, susceptibility to skos:exactMatch UMLS:C1847730 semapv:UnspecifiedMatching MONDO:0011694 spinocerebellar ataxia type 15/16 skos:exactMatch DOID:0050965 spinocerebellar ataxia 15 semapv:UnspecifiedMatching MONDO:0011694 spinocerebellar ataxia type 15/16 skos:exactMatch MEDGEN:338301 semapv:UnspecifiedMatching MONDO:0011694 spinocerebellar ataxia type 15/16 skos:exactMatch NCIT:C150250 Spinocerebellar Ataxia Type 16 semapv:UnspecifiedMatching MONDO:0011694 spinocerebellar ataxia type 15/16 skos:exactMatch OMIM:606658 spinocerebellar ataxia 15 semapv:UnspecifiedMatching MONDO:0011694 spinocerebellar ataxia type 15/16 skos:exactMatch Orphanet:98769 Spinocerebellar ataxia type 15/16 semapv:UnspecifiedMatching MONDO:0011694 spinocerebellar ataxia type 15/16 skos:exactMatch SCTID:716724006 semapv:UnspecifiedMatching MONDO:0011694 spinocerebellar ataxia type 15/16 skos:exactMatch UMLS:C1847725 semapv:UnspecifiedMatching MONDO:0011694 spinocerebellar ataxia type 15/16 skos:exactMatch mesh:C564685 semapv:UnspecifiedMatching MONDO:0011695 melanoma, uveal, susceptibility to, 1 skos:exactMatch MEDGEN:376198 semapv:UnspecifiedMatching MONDO:0011695 melanoma, uveal, susceptibility to, 1 skos:exactMatch OMIM:606660 melanoma, uveal, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0011695 melanoma, uveal, susceptibility to, 1 skos:exactMatch UMLS:C1847724 semapv:UnspecifiedMatching MONDO:0011696 melanoma, uveal, susceptibility to, 2 skos:exactMatch MEDGEN:339826 semapv:UnspecifiedMatching MONDO:0011696 melanoma, uveal, susceptibility to, 2 skos:exactMatch OMIM:606661 melanoma, uveal, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0011696 melanoma, uveal, susceptibility to, 2 skos:exactMatch UMLS:C1847723 semapv:UnspecifiedMatching MONDO:0011697 Waardenburg syndrome type 2C skos:exactMatch DOID:0110951 Waardenburg syndrome type 2C semapv:UnspecifiedMatching MONDO:0011697 Waardenburg syndrome type 2C skos:exactMatch MEDGEN:335755 semapv:UnspecifiedMatching MONDO:0011697 Waardenburg syndrome type 2C skos:exactMatch OMIM:606662 waardenburg syndrome, type 2c semapv:UnspecifiedMatching MONDO:0011697 Waardenburg syndrome type 2C skos:exactMatch UMLS:C1847722 semapv:UnspecifiedMatching MONDO:0011697 Waardenburg syndrome type 2C skos:exactMatch mesh:C564684 semapv:UnspecifiedMatching MONDO:0011698 glycine N-methyltransferase deficiency skos:exactMatch DOID:0111037 glycine N-methyltransferase deficiency semapv:UnspecifiedMatching MONDO:0011698 glycine N-methyltransferase deficiency skos:exactMatch MEDGEN:338300 semapv:UnspecifiedMatching MONDO:0011698 glycine N-methyltransferase deficiency skos:exactMatch OMIM:606664 glycine n-methyltransferase deficiency semapv:UnspecifiedMatching MONDO:0011698 glycine N-methyltransferase deficiency skos:exactMatch Orphanet:289891 Hypermethioninemia due to glycine N-methyltransferase deficiency semapv:UnspecifiedMatching MONDO:0011698 glycine N-methyltransferase deficiency skos:exactMatch SCTID:763720007 semapv:UnspecifiedMatching MONDO:0011698 glycine N-methyltransferase deficiency skos:exactMatch UMLS:C1847720 semapv:UnspecifiedMatching MONDO:0011698 glycine N-methyltransferase deficiency skos:exactMatch icd11.foundation:16192453 Glycine N-methyltransferase deficiency semapv:UnspecifiedMatching MONDO:0011699 inflammatory bowel disease 8 skos:exactMatch DOID:0110904 inflammatory bowel disease 8 semapv:UnspecifiedMatching MONDO:0011699 inflammatory bowel disease 8 skos:exactMatch MEDGEN:335753 semapv:UnspecifiedMatching MONDO:0011699 inflammatory bowel disease 8 skos:exactMatch OMIM:606668 inflammatory bowel disease 8 semapv:UnspecifiedMatching MONDO:0011699 inflammatory bowel disease 8 skos:exactMatch UMLS:C1847719 semapv:UnspecifiedMatching MONDO:0011699 inflammatory bowel disease 8 skos:exactMatch mesh:C564682 semapv:UnspecifiedMatching MONDO:0011700 inflammatory bowel disease 6 skos:exactMatch DOID:0110907 inflammatory bowel disease 6 semapv:UnspecifiedMatching MONDO:0011700 inflammatory bowel disease 6 skos:exactMatch MEDGEN:376191 semapv:UnspecifiedMatching MONDO:0011700 inflammatory bowel disease 6 skos:exactMatch OMIM:606674 inflammatory bowel disease 6 semapv:UnspecifiedMatching MONDO:0011700 inflammatory bowel disease 6 skos:exactMatch UMLS:C1847692 semapv:UnspecifiedMatching MONDO:0011700 inflammatory bowel disease 6 skos:exactMatch mesh:C564681 semapv:UnspecifiedMatching MONDO:0011701 inflammatory bowel disease 4 skos:exactMatch DOID:0110903 inflammatory bowel disease 4 semapv:UnspecifiedMatching MONDO:0011701 inflammatory bowel disease 4 skos:exactMatch MEDGEN:339822 semapv:UnspecifiedMatching MONDO:0011701 inflammatory bowel disease 4 skos:exactMatch OMIM:606675 inflammatory bowel disease 4 semapv:UnspecifiedMatching MONDO:0011701 inflammatory bowel disease 4 skos:exactMatch UMLS:C1847691 semapv:UnspecifiedMatching MONDO:0011701 inflammatory bowel disease 4 skos:exactMatch mesh:C564680 semapv:UnspecifiedMatching MONDO:0011702 dilated cardiomyopathy 1L skos:exactMatch DOID:0110436 dilated cardiomyopathy 1L semapv:UnspecifiedMatching MONDO:0011702 dilated cardiomyopathy 1L skos:exactMatch MEDGEN:335735 semapv:UnspecifiedMatching MONDO:0011702 dilated cardiomyopathy 1L skos:exactMatch OMIM:606685 cardiomyopathy, dilated, 1l semapv:UnspecifiedMatching MONDO:0011702 dilated cardiomyopathy 1L skos:exactMatch UMLS:C1847667 semapv:UnspecifiedMatching MONDO:0011702 dilated cardiomyopathy 1L skos:exactMatch mesh:C564679 semapv:UnspecifiedMatching MONDO:0011703 spongiform encephalopathy with neuropsychiatric features skos:exactMatch MEDGEN:339812 semapv:UnspecifiedMatching MONDO:0011703 spongiform encephalopathy with neuropsychiatric features skos:exactMatch OMIM:606688 spongiform encephalopathy with neuropsychiatric features semapv:UnspecifiedMatching MONDO:0011703 spongiform encephalopathy with neuropsychiatric features skos:exactMatch UMLS:C1847650 semapv:UnspecifiedMatching MONDO:0011703 spongiform encephalopathy with neuropsychiatric features skos:exactMatch mesh:C564678 semapv:UnspecifiedMatching MONDO:0011704 obsolete glaucoma 1, open angle, B skos:exactMatch OMIM:606689 glaucoma 1, open angle, B semapv:UnspecifiedMatching MONDO:0011705 lymphangioleiomyomatosis skos:exactMatch ICD10CM:J84.81 Lymphangioleiomyomatosis semapv:UnspecifiedMatching MONDO:0011705 lymphangioleiomyomatosis skos:exactMatch MEDGEN:148366 semapv:UnspecifiedMatching MONDO:0011705 lymphangioleiomyomatosis skos:exactMatch NCIT:C3725 Lymphangioleiomyomatosis semapv:UnspecifiedMatching MONDO:0011705 lymphangioleiomyomatosis skos:exactMatch OMIM:606690 lymphangioleiomyomatosis semapv:UnspecifiedMatching MONDO:0011705 lymphangioleiomyomatosis skos:exactMatch UMLS:C0751674 semapv:UnspecifiedMatching MONDO:0011705 lymphangioleiomyomatosis skos:exactMatch icd11.foundation:902628446 Lymphangioleiomyomatosis semapv:UnspecifiedMatching MONDO:0011705 lymphangioleiomyomatosis skos:exactMatch mesh:D018192 semapv:UnspecifiedMatching MONDO:0011706 Kufor-Rakeb syndrome skos:exactMatch DOID:0060556 Kufor-Rakeb syndrome semapv:UnspecifiedMatching MONDO:0011706 Kufor-Rakeb syndrome skos:exactMatch MEDGEN:338281 semapv:UnspecifiedMatching MONDO:0011706 Kufor-Rakeb syndrome skos:exactMatch OMIM:606693 kufor-rakeb syndrome semapv:UnspecifiedMatching MONDO:0011706 Kufor-Rakeb syndrome skos:exactMatch Orphanet:306674 Kufor-Rakeb syndrome semapv:UnspecifiedMatching MONDO:0011706 Kufor-Rakeb syndrome skos:exactMatch UMLS:C1847640 semapv:UnspecifiedMatching MONDO:0011706 Kufor-Rakeb syndrome skos:exactMatch mesh:C537177 semapv:UnspecifiedMatching MONDO:0011708 autosomal dominant nonsyndromic hearing loss 36 skos:exactMatch DOID:0110563 autosomal dominant nonsyndromic deafness 36 semapv:UnspecifiedMatching MONDO:0011708 autosomal dominant nonsyndromic hearing loss 36 skos:exactMatch MEDGEN:376173 semapv:UnspecifiedMatching MONDO:0011708 autosomal dominant nonsyndromic hearing loss 36 skos:exactMatch OMIM:606705 deafness, autosomal dominant 36 semapv:UnspecifiedMatching MONDO:0011708 autosomal dominant nonsyndromic hearing loss 36 skos:exactMatch UMLS:C1847626 semapv:UnspecifiedMatching MONDO:0011708 autosomal dominant nonsyndromic hearing loss 36 skos:exactMatch mesh:C564675 semapv:UnspecifiedMatching MONDO:0011709 split hand-foot malformation 5 skos:exactMatch DOID:0090022 split hand-foot malformation 5 semapv:UnspecifiedMatching MONDO:0011709 split hand-foot malformation 5 skos:exactMatch MEDGEN:338277 semapv:UnspecifiedMatching MONDO:0011709 split hand-foot malformation 5 skos:exactMatch NCIT:C75002 Split-Hand/Foot Malformation Type 5 semapv:UnspecifiedMatching MONDO:0011709 split hand-foot malformation 5 skos:exactMatch OMIM:606708 split-hand/foot malformation 5 semapv:UnspecifiedMatching MONDO:0011709 split hand-foot malformation 5 skos:exactMatch UMLS:C1847622 semapv:UnspecifiedMatching MONDO:0011709 split hand-foot malformation 5 skos:exactMatch mesh:C564674 semapv:UnspecifiedMatching MONDO:0011710 specific language impairment 1 skos:exactMatch MEDGEN:339804 semapv:UnspecifiedMatching MONDO:0011710 specific language impairment 1 skos:exactMatch OMIM:606711 specific language impairment 1 semapv:UnspecifiedMatching MONDO:0011710 specific language impairment 1 skos:exactMatch UMLS:C1847614 semapv:UnspecifiedMatching MONDO:0011711 specific language impairment 2 skos:exactMatch MEDGEN:338273 semapv:UnspecifiedMatching MONDO:0011711 specific language impairment 2 skos:exactMatch OMIM:606712 specific language impairment 2 semapv:UnspecifiedMatching MONDO:0011711 specific language impairment 2 skos:exactMatch UMLS:C1847605 semapv:UnspecifiedMatching MONDO:0011712 van der Woude syndrome 2 skos:exactMatch MEDGEN:338272 semapv:UnspecifiedMatching MONDO:0011712 van der Woude syndrome 2 skos:exactMatch OMIM:606713 van der woude syndrome 2 semapv:UnspecifiedMatching MONDO:0011712 van der Woude syndrome 2 skos:exactMatch UMLS:C1847604 semapv:UnspecifiedMatching MONDO:0011712 van der Woude syndrome 2 skos:exactMatch mesh:C536529 semapv:UnspecifiedMatching MONDO:0011713 melanoma-pancreatic cancer syndrome skos:exactMatch MEDGEN:325450 semapv:UnspecifiedMatching MONDO:0011713 melanoma-pancreatic cancer syndrome skos:exactMatch NCIT:C176904 Melanoma-Pancreatic Cancer Syndrome semapv:UnspecifiedMatching MONDO:0011713 melanoma-pancreatic cancer syndrome skos:exactMatch OMIM:606719 melanoma-pancreatic cancer syndrome semapv:UnspecifiedMatching MONDO:0011713 melanoma-pancreatic cancer syndrome skos:exactMatch UMLS:C1838547 semapv:UnspecifiedMatching MONDO:0011713 melanoma-pancreatic cancer syndrome skos:exactMatch mesh:C563985 semapv:UnspecifiedMatching MONDO:0011714 partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome skos:exactMatch MEDGEN:813897 semapv:UnspecifiedMatching MONDO:0011714 partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome skos:exactMatch OMIM:606721 lipodystrophy, familial partial, type 7 semapv:UnspecifiedMatching MONDO:0011714 partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome skos:exactMatch UMLS:C3807567 semapv:UnspecifiedMatching MONDO:0011715 Seckel syndrome 2 skos:exactMatch DOID:0070013 Seckel syndrome 2 semapv:UnspecifiedMatching MONDO:0011715 Seckel syndrome 2 skos:exactMatch MEDGEN:338264 semapv:UnspecifiedMatching MONDO:0011715 Seckel syndrome 2 skos:exactMatch OMIM:606744 seckel syndrome 2 semapv:UnspecifiedMatching MONDO:0011715 Seckel syndrome 2 skos:exactMatch UMLS:C1847572 semapv:UnspecifiedMatching MONDO:0011715 Seckel syndrome 2 skos:exactMatch mesh:C537534 semapv:UnspecifiedMatching MONDO:0011716 acute hemorrhagic leukoencephalitis skos:exactMatch DOID:10992 acute hemorrhagic leukoencephalitis semapv:UnspecifiedMatching MONDO:0011716 acute hemorrhagic leukoencephalitis skos:exactMatch EFO:0007132 semapv:UnspecifiedMatching MONDO:0011716 acute hemorrhagic leukoencephalitis skos:exactMatch MEDGEN:4937 semapv:UnspecifiedMatching MONDO:0011716 acute hemorrhagic leukoencephalitis skos:exactMatch NCIT:C84535 Acute Hemorrhagic Leukoencephalitis semapv:UnspecifiedMatching MONDO:0011716 acute hemorrhagic leukoencephalitis skos:exactMatch OMIM:606752 acute hemorrhagic leukoencephalitis semapv:UnspecifiedMatching MONDO:0011716 acute hemorrhagic leukoencephalitis skos:exactMatch SCTID:72986009 semapv:UnspecifiedMatching MONDO:0011716 acute hemorrhagic leukoencephalitis skos:exactMatch UMLS:C0014077 semapv:UnspecifiedMatching MONDO:0011716 acute hemorrhagic leukoencephalitis skos:exactMatch mesh:D004684 semapv:UnspecifiedMatching MONDO:0011717 hyperinsulinism-hyperammonemia syndrome skos:exactMatch DOID:0070217 familial hyperinsulinemic hypoglycemia 6 semapv:UnspecifiedMatching MONDO:0011717 hyperinsulinism-hyperammonemia syndrome skos:exactMatch MEDGEN:376153 semapv:UnspecifiedMatching MONDO:0011717 hyperinsulinism-hyperammonemia syndrome skos:exactMatch NCIT:C131832 Glutamate Dehydrogenase 1 Hyperinsulinism semapv:UnspecifiedMatching MONDO:0011717 hyperinsulinism-hyperammonemia syndrome skos:exactMatch OMIM:606762 hyperinsulinemic hypoglycemia, familial, 6 semapv:UnspecifiedMatching MONDO:0011717 hyperinsulinism-hyperammonemia syndrome skos:exactMatch Orphanet:35878 Hyperinsulinism-hyperammonemia syndrome semapv:UnspecifiedMatching MONDO:0011717 hyperinsulinism-hyperammonemia syndrome skos:exactMatch UMLS:C1847555 semapv:UnspecifiedMatching MONDO:0011717 hyperinsulinism-hyperammonemia syndrome skos:exactMatch mesh:C538375 semapv:UnspecifiedMatching MONDO:0011718 primary ciliary dyskinesia 2 skos:exactMatch DOID:0110626 primary ciliary dyskinesia 2 semapv:UnspecifiedMatching MONDO:0011718 primary ciliary dyskinesia 2 skos:exactMatch MEDGEN:338258 semapv:UnspecifiedMatching MONDO:0011718 primary ciliary dyskinesia 2 skos:exactMatch OMIM:606763 ciliary dyskinesia, primary, 2 semapv:UnspecifiedMatching MONDO:0011718 primary ciliary dyskinesia 2 skos:exactMatch UMLS:C1847554 semapv:UnspecifiedMatching MONDO:0011718 primary ciliary dyskinesia 2 skos:exactMatch mesh:C535277 semapv:UnspecifiedMatching MONDO:0011719 gastrointestinal stromal tumor skos:exactMatch DOID:9253 gastrointestinal stromal tumor semapv:UnspecifiedMatching MONDO:0011719 gastrointestinal stromal tumor skos:exactMatch ICD10CM:C49.A Gastrointestinal stromal tumor semapv:UnspecifiedMatching MONDO:0011719 gastrointestinal stromal tumor skos:exactMatch MEDGEN:116049 semapv:UnspecifiedMatching MONDO:0011719 gastrointestinal stromal tumor skos:exactMatch NCIT:C3868 Gastrointestinal Stromal Tumor semapv:UnspecifiedMatching MONDO:0011719 gastrointestinal stromal tumor skos:exactMatch OMIM:606764 gastrointestinal stromal tumor semapv:UnspecifiedMatching MONDO:0011719 gastrointestinal stromal tumor skos:exactMatch Orphanet:44890 Gastrointestinal stromal tumor semapv:UnspecifiedMatching MONDO:0011719 gastrointestinal stromal tumor skos:exactMatch SCTID:420120006 semapv:UnspecifiedMatching MONDO:0011719 gastrointestinal stromal tumor skos:exactMatch UMLS:C0238198 semapv:UnspecifiedMatching MONDO:0011719 gastrointestinal stromal tumor skos:exactMatch mesh:D046152 semapv:UnspecifiedMatching MONDO:0011720 spermatogenic failure 3 skos:exactMatch DOID:0070168 spermatogenic failure 3 semapv:UnspecifiedMatching MONDO:0011720 spermatogenic failure 3 skos:exactMatch MEDGEN:1648302 semapv:UnspecifiedMatching MONDO:0011720 spermatogenic failure 3 skos:exactMatch OMIM:606766 spermatogenic failure 3 semapv:UnspecifiedMatching MONDO:0011720 spermatogenic failure 3 skos:exactMatch UMLS:C4721889 semapv:UnspecifiedMatching MONDO:0011720 spermatogenic failure 3 skos:exactMatch mesh:C564665 semapv:UnspecifiedMatching MONDO:0011721 distal myopathy with anterior tibial onset skos:exactMatch DOID:0111187 distal myopathy with anterior tibial onset semapv:UnspecifiedMatching MONDO:0011721 distal myopathy with anterior tibial onset skos:exactMatch MEDGEN:335706 semapv:UnspecifiedMatching MONDO:0011721 distal myopathy with anterior tibial onset skos:exactMatch OMIM:606768 myopathy, distal, with anterior tibial onset semapv:UnspecifiedMatching MONDO:0011721 distal myopathy with anterior tibial onset skos:exactMatch Orphanet:178400 Distal myopathy with anterior tibial onset semapv:UnspecifiedMatching MONDO:0011721 distal myopathy with anterior tibial onset skos:exactMatch UMLS:C1847532 semapv:UnspecifiedMatching MONDO:0011721 distal myopathy with anterior tibial onset skos:exactMatch icd11.foundation:651559966 Distal myopathy with anterior tibial onset semapv:UnspecifiedMatching MONDO:0011721 distal myopathy with anterior tibial onset skos:exactMatch mesh:C564664 semapv:UnspecifiedMatching MONDO:0011722 intellectual disability-obesity-prognathism-eye and skin anomalies syndrome skos:exactMatch MEDGEN:376145 semapv:UnspecifiedMatching MONDO:0011722 intellectual disability-obesity-prognathism-eye and skin anomalies syndrome skos:exactMatch OMIM:606772 impaired intellectual development, obesity, mandibular prognathism, and eye and skin anomalies semapv:UnspecifiedMatching MONDO:0011722 intellectual disability-obesity-prognathism-eye and skin anomalies syndrome skos:exactMatch Orphanet:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome semapv:UnspecifiedMatching MONDO:0011722 intellectual disability-obesity-prognathism-eye and skin anomalies syndrome skos:exactMatch UMLS:C1847522 semapv:UnspecifiedMatching MONDO:0011722 intellectual disability-obesity-prognathism-eye and skin anomalies syndrome skos:exactMatch mesh:C564660 semapv:UnspecifiedMatching MONDO:0011723 hemifacial myohyperplasia skos:exactMatch MEDGEN:339781 semapv:UnspecifiedMatching MONDO:0011723 hemifacial myohyperplasia skos:exactMatch OMIM:606773 hemifacial myohyperplasia semapv:UnspecifiedMatching MONDO:0011723 hemifacial myohyperplasia skos:exactMatch Orphanet:141148 Hemifacial myohyperplasia semapv:UnspecifiedMatching MONDO:0011723 hemifacial myohyperplasia skos:exactMatch SCTID:699420006 semapv:UnspecifiedMatching MONDO:0011723 hemifacial myohyperplasia skos:exactMatch UMLS:C1847521 semapv:UnspecifiedMatching MONDO:0011723 hemifacial myohyperplasia skos:exactMatch icd11.foundation:1338941880 Hemifacial myohyperplasia semapv:UnspecifiedMatching MONDO:0011723 hemifacial myohyperplasia skos:exactMatch mesh:C535862 semapv:UnspecifiedMatching MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:exactMatch DOID:0070561 glucose transporter type 1 deficiency syndrome 1 semapv:UnspecifiedMatching MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:exactMatch MEDGEN:1645412 semapv:UnspecifiedMatching MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:exactMatch OMIM:606777 glut1 deficiency syndrome 1 semapv:UnspecifiedMatching MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:exactMatch Orphanet:71277 Classic glucose transporter type 1 deficiency syndrome semapv:UnspecifiedMatching MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:exactMatch UMLS:C4551966 semapv:UnspecifiedMatching MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:exactMatch icd11.foundation:1231079185 Encephalopathy due to GLUT1 deficiency semapv:UnspecifiedMatching MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:exactMatch mesh:C536830 semapv:UnspecifiedMatching MONDO:0011725 Crigler-Najjar syndrome type 2 skos:exactMatch MEDGEN:419718 semapv:UnspecifiedMatching MONDO:0011725 Crigler-Najjar syndrome type 2 skos:exactMatch OMIM:606785 crigler-najjar syndrome, type 2 semapv:UnspecifiedMatching MONDO:0011725 Crigler-Najjar syndrome type 2 skos:exactMatch Orphanet:79235 Crigler-Najjar syndrome type 2 semapv:UnspecifiedMatching MONDO:0011725 Crigler-Najjar syndrome type 2 skos:exactMatch SCTID:68067009 semapv:UnspecifiedMatching MONDO:0011725 Crigler-Najjar syndrome type 2 skos:exactMatch UMLS:C2931132 semapv:UnspecifiedMatching MONDO:0011725 Crigler-Najjar syndrome type 2 skos:exactMatch icd11.foundation:846453488 Crigler-Najjar syndrome type 2 semapv:UnspecifiedMatching MONDO:0011725 Crigler-Najjar syndrome type 2 skos:exactMatch mesh:C536213 semapv:UnspecifiedMatching MONDO:0011726 peripheral arterial occlusive disease 1 skos:exactMatch MEDGEN:376140 semapv:UnspecifiedMatching MONDO:0011726 peripheral arterial occlusive disease 1 skos:exactMatch OMIM:606787 peripheral arterial occlusive disease 1 semapv:UnspecifiedMatching MONDO:0011726 peripheral arterial occlusive disease 1 skos:exactMatch UMLS:C1847493 semapv:UnspecifiedMatching MONDO:0011726 peripheral arterial occlusive disease 1 skos:exactMatch mesh:C564658 semapv:UnspecifiedMatching MONDO:0011727 anorexia nervosa, susceptibility to, 1 skos:exactMatch MEDGEN:376139 semapv:UnspecifiedMatching MONDO:0011727 anorexia nervosa, susceptibility to, 1 skos:exactMatch OMIM:606788 anorexia nervosa, susceptibility to semapv:UnspecifiedMatching MONDO:0011727 anorexia nervosa, susceptibility to, 1 skos:exactMatch UMLS:C1847492 semapv:UnspecifiedMatching MONDO:0011728 benign essential blepharospasm skos:exactMatch DOID:529 blepharospasm semapv:UnspecifiedMatching MONDO:0011728 benign essential blepharospasm skos:exactMatch ICD10CM:G24.5 Blepharospasm semapv:UnspecifiedMatching MONDO:0011728 benign essential blepharospasm skos:exactMatch MEDGEN:419660 semapv:UnspecifiedMatching MONDO:0011728 benign essential blepharospasm skos:exactMatch SCTID:59026006 semapv:UnspecifiedMatching MONDO:0011728 benign essential blepharospasm skos:exactMatch UMLS:C2930898 semapv:UnspecifiedMatching MONDO:0011728 benign essential blepharospasm skos:exactMatch icd11.foundation:1127235959 Benign essential blepharospasm semapv:UnspecifiedMatching MONDO:0011728 benign essential blepharospasm skos:exactMatch mesh:D001764 semapv:UnspecifiedMatching MONDO:0011729 stroke, susceptibility to, 1 skos:exactMatch MEDGEN:335696 semapv:UnspecifiedMatching MONDO:0011729 stroke, susceptibility to, 1 skos:exactMatch OMIM:606799 stroke, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0011729 stroke, susceptibility to, 1 skos:exactMatch UMLS:C1847482 semapv:UnspecifiedMatching MONDO:0011730 fumaric aciduria skos:exactMatch DOID:0111261 fumarase deficiency semapv:UnspecifiedMatching MONDO:0011730 fumaric aciduria skos:exactMatch MEDGEN:87458 semapv:UnspecifiedMatching MONDO:0011730 fumaric aciduria skos:exactMatch OMIM:606812 fumarase deficiency semapv:UnspecifiedMatching MONDO:0011730 fumaric aciduria skos:exactMatch Orphanet:24 Fumaric aciduria semapv:UnspecifiedMatching MONDO:0011730 fumaric aciduria skos:exactMatch SCTID:237983002 semapv:UnspecifiedMatching MONDO:0011730 fumaric aciduria skos:exactMatch UMLS:C0342770 semapv:UnspecifiedMatching MONDO:0011730 fumaric aciduria skos:exactMatch mesh:C538191 semapv:UnspecifiedMatching MONDO:0011731 glucose-galactose malabsorption skos:exactMatch DOID:0070563 glucose-galactose malabsorption semapv:UnspecifiedMatching MONDO:0011731 glucose-galactose malabsorption skos:exactMatch MEDGEN:78647 semapv:UnspecifiedMatching MONDO:0011731 glucose-galactose malabsorption skos:exactMatch OMIM:606824 glucose/galactose malabsorption semapv:UnspecifiedMatching MONDO:0011731 glucose-galactose malabsorption skos:exactMatch Orphanet:35710 Glucose-galactose malabsorption semapv:UnspecifiedMatching MONDO:0011731 glucose-galactose malabsorption skos:exactMatch SCTID:190749000 semapv:UnspecifiedMatching MONDO:0011731 glucose-galactose malabsorption skos:exactMatch UMLS:C0268186 semapv:UnspecifiedMatching MONDO:0011731 glucose-galactose malabsorption skos:exactMatch icd11.foundation:2108415931 Glucose-galactose malabsorption semapv:UnspecifiedMatching MONDO:0011731 glucose-galactose malabsorption skos:exactMatch mesh:C562602 semapv:UnspecifiedMatching MONDO:0011732 familial digital arthropathy-brachydactyly skos:exactMatch MEDGEN:335678 semapv:UnspecifiedMatching MONDO:0011732 familial digital arthropathy-brachydactyly skos:exactMatch NCIT:C175208 Familial Digital Arthropathy-Brachydactyly semapv:UnspecifiedMatching MONDO:0011732 familial digital arthropathy-brachydactyly skos:exactMatch OMIM:606835 digital arthropathy-brachydactyly, familial semapv:UnspecifiedMatching MONDO:0011732 familial digital arthropathy-brachydactyly skos:exactMatch Orphanet:85169 Familial digital arthropathy-brachydactyly semapv:UnspecifiedMatching MONDO:0011732 familial digital arthropathy-brachydactyly skos:exactMatch UMLS:C1847406 semapv:UnspecifiedMatching MONDO:0011732 familial digital arthropathy-brachydactyly skos:exactMatch mesh:C564656 semapv:UnspecifiedMatching MONDO:0011733 parasomnia, sleep bruxism type skos:exactMatch MEDGEN:339751 semapv:UnspecifiedMatching MONDO:0011733 parasomnia, sleep bruxism type skos:exactMatch OMIM:606840 parasomnia, sleep bruxism type semapv:UnspecifiedMatching MONDO:0011733 parasomnia, sleep bruxism type skos:exactMatch UMLS:C1847399 semapv:UnspecifiedMatching MONDO:0011733 parasomnia, sleep bruxism type skos:exactMatch mesh:C536389 semapv:UnspecifiedMatching MONDO:0011734 Cardioneuromyopathy with hyaline masses and nemaline rods skos:exactMatch MEDGEN:339747 semapv:UnspecifiedMatching MONDO:0011734 Cardioneuromyopathy with hyaline masses and nemaline rods skos:exactMatch OMIM:606842 cardioneuromyopathy with hyaline masses and nemaline rods semapv:UnspecifiedMatching MONDO:0011734 Cardioneuromyopathy with hyaline masses and nemaline rods skos:exactMatch UMLS:C1847387 semapv:UnspecifiedMatching MONDO:0011734 Cardioneuromyopathy with hyaline masses and nemaline rods skos:exactMatch mesh:C564655 semapv:UnspecifiedMatching MONDO:0011735 hyper-IgM syndrome type 3 skos:exactMatch DOID:0060023 immunodeficiency with hyper IgM type 3 semapv:UnspecifiedMatching MONDO:0011735 hyper-IgM syndrome type 3 skos:exactMatch MEDGEN:328419 semapv:UnspecifiedMatching MONDO:0011735 hyper-IgM syndrome type 3 skos:exactMatch OMIM:606843 immunodeficiency with hyper-igm, type 3 semapv:UnspecifiedMatching MONDO:0011735 hyper-IgM syndrome type 3 skos:exactMatch Orphanet:101090 Hyper-IgM syndrome type 3 semapv:UnspecifiedMatching MONDO:0011735 hyper-IgM syndrome type 3 skos:exactMatch UMLS:C1720957 semapv:UnspecifiedMatching MONDO:0011736 Cree intellectual disability syndrome skos:exactMatch MEDGEN:335673 semapv:UnspecifiedMatching MONDO:0011736 Cree intellectual disability syndrome skos:exactMatch OMIM:606851 cree impaired intellectual development syndrome semapv:UnspecifiedMatching MONDO:0011736 Cree intellectual disability syndrome skos:exactMatch UMLS:C1847361 semapv:UnspecifiedMatching MONDO:0011736 Cree intellectual disability syndrome skos:exactMatch mesh:C564654 semapv:UnspecifiedMatching MONDO:0011737 Parkinson disease 10 skos:exactMatch MEDGEN:339741 semapv:UnspecifiedMatching MONDO:0011737 Parkinson disease 10 skos:exactMatch OMIM:606852 parkinson disease 10 semapv:UnspecifiedMatching MONDO:0011737 Parkinson disease 10 skos:exactMatch UMLS:C1847360 semapv:UnspecifiedMatching MONDO:0011737 Parkinson disease 10 skos:exactMatch mesh:C564653 semapv:UnspecifiedMatching MONDO:0011738 bilateral frontoparietal polymicrogyria skos:exactMatch DOID:0080922 bilateral frontoparietal polymicrogyria semapv:UnspecifiedMatching MONDO:0011738 bilateral frontoparietal polymicrogyria skos:exactMatch MEDGEN:376107 semapv:UnspecifiedMatching MONDO:0011738 bilateral frontoparietal polymicrogyria skos:exactMatch NCIT:C148367 Bilateral Frontoparietal Polymicrogyria semapv:UnspecifiedMatching MONDO:0011738 bilateral frontoparietal polymicrogyria skos:exactMatch OMIM:606854 cortical dysplasia, complex, with other brain malformations 14a (bilateral frontoparietal) semapv:UnspecifiedMatching MONDO:0011738 bilateral frontoparietal polymicrogyria skos:exactMatch Orphanet:101070 Bilateral frontoparietal polymicrogyria semapv:UnspecifiedMatching MONDO:0011738 bilateral frontoparietal polymicrogyria skos:exactMatch UMLS:C1847352 semapv:UnspecifiedMatching MONDO:0011738 bilateral frontoparietal polymicrogyria skos:exactMatch icd11.foundation:1119484699 Bilateral frontoparietal polymicrogyria semapv:UnspecifiedMatching MONDO:0011738 bilateral frontoparietal polymicrogyria skos:exactMatch mesh:C564652 semapv:UnspecifiedMatching MONDO:0011739 pancreatic cancer, susceptibility to, 1 skos:exactMatch MEDGEN:339739 semapv:UnspecifiedMatching MONDO:0011739 pancreatic cancer, susceptibility to, 1 skos:exactMatch OMIM:606856 pancreatic cancer, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0011739 pancreatic cancer, susceptibility to, 1 skos:exactMatch UMLS:C1847351 semapv:UnspecifiedMatching MONDO:0011740 Carney-Stratakis syndrome skos:exactMatch DOID:0080533 Carney-Stratakis syndrome semapv:UnspecifiedMatching MONDO:0011740 Carney-Stratakis syndrome skos:exactMatch MEDGEN:376098 semapv:UnspecifiedMatching MONDO:0011740 Carney-Stratakis syndrome skos:exactMatch NCIT:C94831 Carney-Stratakis Syndrome semapv:UnspecifiedMatching MONDO:0011740 Carney-Stratakis syndrome skos:exactMatch OMIM:606864 paraganglioma and gastric stromal sarcoma semapv:UnspecifiedMatching MONDO:0011740 Carney-Stratakis syndrome skos:exactMatch Orphanet:97286 Carney-Stratakis syndrome semapv:UnspecifiedMatching MONDO:0011740 Carney-Stratakis syndrome skos:exactMatch SCTID:722377004 semapv:UnspecifiedMatching MONDO:0011740 Carney-Stratakis syndrome skos:exactMatch UMLS:C1847319 semapv:UnspecifiedMatching MONDO:0011740 Carney-Stratakis syndrome skos:exactMatch mesh:C564650 semapv:UnspecifiedMatching MONDO:0011741 Hirschsprung disease, susceptibility to, 6 skos:exactMatch MEDGEN:369600 semapv:UnspecifiedMatching MONDO:0011741 Hirschsprung disease, susceptibility to, 6 skos:exactMatch OMIM:606874 hirschsprung disease, susceptibility to, 6 semapv:UnspecifiedMatching MONDO:0011741 Hirschsprung disease, susceptibility to, 6 skos:exactMatch UMLS:C1969837 semapv:UnspecifiedMatching MONDO:0011742 Hirschsprung disease, susceptibility to, 7 skos:exactMatch MEDGEN:370761 semapv:UnspecifiedMatching MONDO:0011742 Hirschsprung disease, susceptibility to, 7 skos:exactMatch OMIM:606875 hirschsprung disease, susceptibility to, 7 semapv:UnspecifiedMatching MONDO:0011742 Hirschsprung disease, susceptibility to, 7 skos:exactMatch UMLS:C1969836 semapv:UnspecifiedMatching MONDO:0011743 Alzheimer disease 4 skos:exactMatch DOID:0110040 Alzheimer's disease 4 semapv:UnspecifiedMatching MONDO:0011743 Alzheimer disease 4 skos:exactMatch MEDGEN:376072 semapv:UnspecifiedMatching MONDO:0011743 Alzheimer disease 4 skos:exactMatch NCIT:C123413 Alzheimer's Disease 4 semapv:UnspecifiedMatching MONDO:0011743 Alzheimer disease 4 skos:exactMatch OMIM:606889 alzheimer disease 4 semapv:UnspecifiedMatching MONDO:0011743 Alzheimer disease 4 skos:exactMatch UMLS:C1847200 semapv:UnspecifiedMatching MONDO:0011743 Alzheimer disease 4 skos:exactMatch mesh:C536596 semapv:UnspecifiedMatching MONDO:0011744 primary intraosseous venous malformation skos:exactMatch MEDGEN:376071 semapv:UnspecifiedMatching MONDO:0011744 primary intraosseous venous malformation skos:exactMatch OMIM:606893 vascular malformation, primary intraosseous semapv:UnspecifiedMatching MONDO:0011744 primary intraosseous venous malformation skos:exactMatch Orphanet:140436 Primary intraosseous venous malformation semapv:UnspecifiedMatching MONDO:0011744 primary intraosseous venous malformation skos:exactMatch SCTID:764100007 semapv:UnspecifiedMatching MONDO:0011744 primary intraosseous venous malformation skos:exactMatch UMLS:C1847197 semapv:UnspecifiedMatching MONDO:0011744 primary intraosseous venous malformation skos:exactMatch mesh:C564648 semapv:UnspecifiedMatching MONDO:0011745 duodenojejunal atresia with volvulus, absent dorsal mesentery, and absent superior mesenteric artery skos:exactMatch MEDGEN:339705 semapv:UnspecifiedMatching MONDO:0011745 duodenojejunal atresia with volvulus, absent dorsal mesentery, and absent superior mesenteric artery skos:exactMatch OMIM:606894 duodenojejunal atresia with volvulus, absent dorsal mesentery, and absent superior mesenteric artery semapv:UnspecifiedMatching MONDO:0011745 duodenojejunal atresia with volvulus, absent dorsal mesentery, and absent superior mesenteric artery skos:exactMatch UMLS:C1847196 semapv:UnspecifiedMatching MONDO:0011745 duodenojejunal atresia with volvulus, absent dorsal mesentery, and absent superior mesenteric artery skos:exactMatch mesh:C535722 semapv:UnspecifiedMatching MONDO:0011746 symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch skos:exactMatch MEDGEN:376067 semapv:UnspecifiedMatching MONDO:0011746 symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch skos:exactMatch OMIM:606895 symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch semapv:UnspecifiedMatching MONDO:0011746 symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch skos:exactMatch UMLS:C1847185 semapv:UnspecifiedMatching MONDO:0011746 symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch skos:exactMatch mesh:C538148 semapv:UnspecifiedMatching MONDO:0011747 dyslexia, susceptibility to, 5 skos:exactMatch MEDGEN:337746 semapv:UnspecifiedMatching MONDO:0011747 dyslexia, susceptibility to, 5 skos:exactMatch OMIM:606896 dyslexia, susceptibility to, 5 semapv:UnspecifiedMatching MONDO:0011747 dyslexia, susceptibility to, 5 skos:exactMatch UMLS:C1847184 semapv:UnspecifiedMatching MONDO:0011748 Usher syndrome type 1G skos:exactMatch DOID:0110834 Usher syndrome type 1G semapv:UnspecifiedMatching MONDO:0011748 Usher syndrome type 1G skos:exactMatch MEDGEN:339683 semapv:UnspecifiedMatching MONDO:0011748 Usher syndrome type 1G skos:exactMatch OMIM:606943 usher syndrome, type 1g semapv:UnspecifiedMatching MONDO:0011748 Usher syndrome type 1G skos:exactMatch UMLS:C1847089 semapv:UnspecifiedMatching MONDO:0011748 Usher syndrome type 1G skos:exactMatch mesh:C564643 semapv:UnspecifiedMatching MONDO:0011749 oculocutaneous albinism type 1B skos:exactMatch DOID:0070095 oculocutaneous albinism type IB semapv:UnspecifiedMatching MONDO:0011749 oculocutaneous albinism type 1B skos:exactMatch MEDGEN:337712 semapv:UnspecifiedMatching MONDO:0011749 oculocutaneous albinism type 1B skos:exactMatch OMIM:606952 albinism, oculocutaneous, type 1b semapv:UnspecifiedMatching MONDO:0011749 oculocutaneous albinism type 1B skos:exactMatch Orphanet:79434 Oculocutaneous albinism type 1B semapv:UnspecifiedMatching MONDO:0011749 oculocutaneous albinism type 1B skos:exactMatch UMLS:C1847024 semapv:UnspecifiedMatching MONDO:0011749 oculocutaneous albinism type 1B skos:exactMatch icd11.foundation:1233842528 Oculocutaneous albinism type 1B semapv:UnspecifiedMatching MONDO:0011749 oculocutaneous albinism type 1B skos:exactMatch mesh:C537729 semapv:UnspecifiedMatching MONDO:0011750 obsolete insulinoma tumor suppressor gene locus skos:exactMatch OMIM:606960 insulinoma tumor suppressor gene locus semapv:UnspecifiedMatching MONDO:0011751 COPD, severe early onset skos:exactMatch MEDGEN:376022 semapv:UnspecifiedMatching MONDO:0011751 COPD, severe early onset skos:exactMatch UMLS:C1847014 semapv:UnspecifiedMatching MONDO:0011752 nephronophthisis 4 skos:exactMatch DOID:0111115 nephronophthisis 4 semapv:UnspecifiedMatching MONDO:0011752 nephronophthisis 4 skos:exactMatch MEDGEN:339667 semapv:UnspecifiedMatching MONDO:0011752 nephronophthisis 4 skos:exactMatch OMIM:606966 nephronophthisis 4 semapv:UnspecifiedMatching MONDO:0011752 nephronophthisis 4 skos:exactMatch SCTID:446989009 semapv:UnspecifiedMatching MONDO:0011752 nephronophthisis 4 skos:exactMatch UMLS:C1847013 semapv:UnspecifiedMatching MONDO:0011752 nephronophthisis 4 skos:exactMatch mesh:C564640 semapv:UnspecifiedMatching MONDO:0011753 epilepsy, idiopathic generalized, susceptibility to, 2 skos:exactMatch MEDGEN:335573 semapv:UnspecifiedMatching MONDO:0011753 epilepsy, idiopathic generalized, susceptibility to, 2 skos:exactMatch OMIM:606972 epilepsy, idiopathic generalized, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0011753 epilepsy, idiopathic generalized, susceptibility to, 2 skos:exactMatch UMLS:C1846992 semapv:UnspecifiedMatching MONDO:0011754 familial hyperreninemic hypoaldosteronism type 2 skos:exactMatch MEDGEN:335571 semapv:UnspecifiedMatching MONDO:0011754 familial hyperreninemic hypoaldosteronism type 2 skos:exactMatch OMIM:606984 hyperreninemic hypoaldosteronism, familial, 2 semapv:UnspecifiedMatching MONDO:0011754 familial hyperreninemic hypoaldosteronism type 2 skos:exactMatch UMLS:C1846990 semapv:UnspecifiedMatching MONDO:0011754 familial hyperreninemic hypoaldosteronism type 2 skos:exactMatch mesh:C564638 semapv:UnspecifiedMatching MONDO:0011755 senior-loken syndrome 3 skos:exactMatch MEDGEN:335569 semapv:UnspecifiedMatching MONDO:0011755 senior-loken syndrome 3 skos:exactMatch OMIM:606995 senior-loken syndrome 3 semapv:UnspecifiedMatching MONDO:0011755 senior-loken syndrome 3 skos:exactMatch UMLS:C1846980 semapv:UnspecifiedMatching MONDO:0011755 senior-loken syndrome 3 skos:exactMatch mesh:C564637 semapv:UnspecifiedMatching MONDO:0011756 Senior-Loken syndrome 4 skos:exactMatch MEDGEN:337697 semapv:UnspecifiedMatching MONDO:0011756 Senior-Loken syndrome 4 skos:exactMatch OMIM:606996 senior-loken syndrome 4 semapv:UnspecifiedMatching MONDO:0011756 Senior-Loken syndrome 4 skos:exactMatch UMLS:C1846979 semapv:UnspecifiedMatching MONDO:0011756 Senior-Loken syndrome 4 skos:exactMatch mesh:C537581 semapv:UnspecifiedMatching MONDO:0011757 brachydactyly type A1B skos:exactMatch DOID:0110974 brachydactyly type A1B semapv:UnspecifiedMatching MONDO:0011757 brachydactyly type A1B skos:exactMatch MEDGEN:339652 semapv:UnspecifiedMatching MONDO:0011757 brachydactyly type A1B skos:exactMatch OMIM:607004 brachydactyly, type a1, B semapv:UnspecifiedMatching MONDO:0011757 brachydactyly type A1B skos:exactMatch UMLS:C1846949 semapv:UnspecifiedMatching MONDO:0011757 brachydactyly type A1B skos:exactMatch mesh:C564635 semapv:UnspecifiedMatching MONDO:0011758 Hurler syndrome skos:exactMatch DOID:0111390 mucopolysaccharidosis Ih semapv:UnspecifiedMatching MONDO:0011758 Hurler syndrome skos:exactMatch MEDGEN:39698 semapv:UnspecifiedMatching MONDO:0011758 Hurler syndrome skos:exactMatch NCIT:C61261 Hurler Syndrome semapv:UnspecifiedMatching MONDO:0011758 Hurler syndrome skos:exactMatch OMIM:607014 hurler syndrome semapv:UnspecifiedMatching MONDO:0011758 Hurler syndrome skos:exactMatch Orphanet:93473 Hurler syndrome semapv:UnspecifiedMatching MONDO:0011758 Hurler syndrome skos:exactMatch SCTID:65327002 semapv:UnspecifiedMatching MONDO:0011758 Hurler syndrome skos:exactMatch UMLS:C0086795 semapv:UnspecifiedMatching MONDO:0011759 Hurler-Scheie syndrome skos:exactMatch DOID:0111389 mucopolysaccharidosis Ih/s semapv:UnspecifiedMatching MONDO:0011759 Hurler-Scheie syndrome skos:exactMatch ICD10CM:E76.02 Hurler-Scheie syndrome semapv:UnspecifiedMatching MONDO:0011759 Hurler-Scheie syndrome skos:exactMatch MEDGEN:88566 semapv:UnspecifiedMatching MONDO:0011759 Hurler-Scheie syndrome skos:exactMatch NCIT:C122782 Hurler-Scheie Syndrome semapv:UnspecifiedMatching MONDO:0011759 Hurler-Scheie syndrome skos:exactMatch OMIM:607015 hurler-scheie syndrome semapv:UnspecifiedMatching MONDO:0011759 Hurler-Scheie syndrome skos:exactMatch Orphanet:93476 Hurler-Scheie syndrome semapv:UnspecifiedMatching MONDO:0011759 Hurler-Scheie syndrome skos:exactMatch SCTID:26745009 semapv:UnspecifiedMatching MONDO:0011759 Hurler-Scheie syndrome skos:exactMatch UMLS:C0086431 semapv:UnspecifiedMatching MONDO:0011760 Scheie syndrome skos:exactMatch DOID:0060222 Scheie syndrome semapv:UnspecifiedMatching MONDO:0011760 Scheie syndrome skos:exactMatch MEDGEN:6453 semapv:UnspecifiedMatching MONDO:0011760 Scheie syndrome skos:exactMatch NCIT:C61265 Scheie Syndrome semapv:UnspecifiedMatching MONDO:0011760 Scheie syndrome skos:exactMatch OMIM:607016 scheie syndrome semapv:UnspecifiedMatching MONDO:0011760 Scheie syndrome skos:exactMatch Orphanet:93474 Scheie syndrome semapv:UnspecifiedMatching MONDO:0011760 Scheie syndrome skos:exactMatch SCTID:73123008 semapv:UnspecifiedMatching MONDO:0011760 Scheie syndrome skos:exactMatch UMLS:C0026708 semapv:UnspecifiedMatching MONDO:0011761 autosomal dominant nonsyndromic hearing loss 21 skos:exactMatch DOID:0110551 autosomal dominant nonsyndromic deafness 21 semapv:UnspecifiedMatching MONDO:0011761 autosomal dominant nonsyndromic hearing loss 21 skos:exactMatch MEDGEN:339643 semapv:UnspecifiedMatching MONDO:0011761 autosomal dominant nonsyndromic hearing loss 21 skos:exactMatch OMIM:607017 deafness, autosomal dominant 21 semapv:UnspecifiedMatching MONDO:0011761 autosomal dominant nonsyndromic hearing loss 21 skos:exactMatch UMLS:C1846922 semapv:UnspecifiedMatching MONDO:0011761 autosomal dominant nonsyndromic hearing loss 21 skos:exactMatch mesh:C564634 semapv:UnspecifiedMatching MONDO:0011762 autosomal recessive nonsyndromic hearing loss 22 skos:exactMatch DOID:0110480 autosomal recessive nonsyndromic deafness 22 semapv:UnspecifiedMatching MONDO:0011762 autosomal recessive nonsyndromic hearing loss 22 skos:exactMatch MEDGEN:339636 semapv:UnspecifiedMatching MONDO:0011762 autosomal recessive nonsyndromic hearing loss 22 skos:exactMatch OMIM:607039 deafness, autosomal recessive 22 semapv:UnspecifiedMatching MONDO:0011762 autosomal recessive nonsyndromic hearing loss 22 skos:exactMatch UMLS:C1846896 semapv:UnspecifiedMatching MONDO:0011762 autosomal recessive nonsyndromic hearing loss 22 skos:exactMatch mesh:C564633 semapv:UnspecifiedMatching MONDO:0011763 obsolete T-box 24 skos:exactMatch OMIM:607044 t-box 24 semapv:UnspecifiedMatching MONDO:0011764 autosomal dominant Parkinson disease 8 skos:exactMatch DOID:0060371 Parkinson's disease 8 semapv:UnspecifiedMatching MONDO:0011764 autosomal dominant Parkinson disease 8 skos:exactMatch MEDGEN:339628 semapv:UnspecifiedMatching MONDO:0011764 autosomal dominant Parkinson disease 8 skos:exactMatch OMIM:607060 parkinson disease 8, autosomal dominant semapv:UnspecifiedMatching MONDO:0011764 autosomal dominant Parkinson disease 8 skos:exactMatch UMLS:C1846862 semapv:UnspecifiedMatching MONDO:0011765 multiple epiphyseal dysplasia type 5 skos:exactMatch DOID:0070299 multiple epiphyseal dysplasia 5 semapv:UnspecifiedMatching MONDO:0011765 multiple epiphyseal dysplasia type 5 skos:exactMatch MEDGEN:335542 semapv:UnspecifiedMatching MONDO:0011765 multiple epiphyseal dysplasia type 5 skos:exactMatch OMIM:607078 epiphyseal dysplasia, multiple, 5 semapv:UnspecifiedMatching MONDO:0011765 multiple epiphyseal dysplasia type 5 skos:exactMatch Orphanet:93311 Multiple epiphyseal dysplasia type 5 semapv:UnspecifiedMatching MONDO:0011765 multiple epiphyseal dysplasia type 5 skos:exactMatch SCTID:715674008 semapv:UnspecifiedMatching MONDO:0011765 multiple epiphyseal dysplasia type 5 skos:exactMatch UMLS:C1846843 semapv:UnspecifiedMatching MONDO:0011765 multiple epiphyseal dysplasia type 5 skos:exactMatch icd11.foundation:537678813 Multiple epiphyseal dysplasia type 5 semapv:UnspecifiedMatching MONDO:0011765 multiple epiphyseal dysplasia type 5 skos:exactMatch mesh:C535505 semapv:UnspecifiedMatching MONDO:0011766 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome skos:exactMatch DOID:0051055 46,XY gonadal dysgenesis with minifascicular neuropathy semapv:UnspecifiedMatching MONDO:0011766 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome skos:exactMatch MEDGEN:1727162 semapv:UnspecifiedMatching MONDO:0011766 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome skos:exactMatch OMIM:607080 46,xy gonadal dysgenesis with minifascicular neuropathy semapv:UnspecifiedMatching MONDO:0011766 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome skos:exactMatch Orphanet:168563 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome semapv:UnspecifiedMatching MONDO:0011766 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome skos:exactMatch UMLS:C5436061 semapv:UnspecifiedMatching MONDO:0011766 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome skos:exactMatch mesh:C567773 semapv:UnspecifiedMatching MONDO:0011767 autosomal recessive nonsyndromic hearing loss 31 skos:exactMatch DOID:0110490 autosomal recessive nonsyndromic deafness 31 semapv:UnspecifiedMatching MONDO:0011767 autosomal recessive nonsyndromic hearing loss 31 skos:exactMatch MEDGEN:339621 semapv:UnspecifiedMatching MONDO:0011767 autosomal recessive nonsyndromic hearing loss 31 skos:exactMatch OMIM:607084 deafness, autosomal recessive 31 semapv:UnspecifiedMatching MONDO:0011767 autosomal recessive nonsyndromic hearing loss 31 skos:exactMatch UMLS:C1846839 semapv:UnspecifiedMatching MONDO:0011767 autosomal recessive nonsyndromic hearing loss 31 skos:exactMatch mesh:C564629 semapv:UnspecifiedMatching MONDO:0011768 myasthenia gravis with thymus hyperplasia skos:exactMatch MEDGEN:375982 semapv:UnspecifiedMatching MONDO:0011768 myasthenia gravis with thymus hyperplasia skos:exactMatch OMIM:607085 myasthenia gravis with thymus hyperplasia semapv:UnspecifiedMatching MONDO:0011768 myasthenia gravis with thymus hyperplasia skos:exactMatch UMLS:C1846838 semapv:UnspecifiedMatching MONDO:0011768 myasthenia gravis with thymus hyperplasia skos:exactMatch mesh:C564628 semapv:UnspecifiedMatching MONDO:0011770 aortic aneurysm, familial thoracic 2 skos:exactMatch MEDGEN:335538 semapv:UnspecifiedMatching MONDO:0011770 aortic aneurysm, familial thoracic 2 skos:exactMatch OMIM:607087 aortic aneurysm, familial thoracic 2 semapv:UnspecifiedMatching MONDO:0011770 aortic aneurysm, familial thoracic 2 skos:exactMatch UMLS:C1846837 semapv:UnspecifiedMatching MONDO:0011770 aortic aneurysm, familial thoracic 2 skos:exactMatch mesh:C564627 semapv:UnspecifiedMatching MONDO:0011771 neuronopathy, distal hereditary motor, autosomal recessive 3 skos:exactMatch DOID:0111211 autosomal recessive distal hereditary motor neuronopathy 3 semapv:UnspecifiedMatching MONDO:0011771 neuronopathy, distal hereditary motor, autosomal recessive 3 skos:exactMatch MEDGEN:337659 semapv:UnspecifiedMatching MONDO:0011771 neuronopathy, distal hereditary motor, autosomal recessive 3 skos:exactMatch OMIM:607088 neuronopathy, distal hereditary motor, autosomal recessive 3 semapv:UnspecifiedMatching MONDO:0011771 neuronopathy, distal hereditary motor, autosomal recessive 3 skos:exactMatch Orphanet:139547 Distal spinal muscular atrophy type 3 semapv:UnspecifiedMatching MONDO:0011771 neuronopathy, distal hereditary motor, autosomal recessive 3 skos:exactMatch UMLS:C1846823 semapv:UnspecifiedMatching MONDO:0011771 neuronopathy, distal hereditary motor, autosomal recessive 3 skos:exactMatch mesh:C564626 semapv:UnspecifiedMatching MONDO:0011772 B4GALT1-congenital disorder of glycosylation skos:exactMatch DOID:0070256 congenital disorder of glycosylation type IId semapv:UnspecifiedMatching MONDO:0011772 B4GALT1-congenital disorder of glycosylation skos:exactMatch MEDGEN:419310 semapv:UnspecifiedMatching MONDO:0011772 B4GALT1-congenital disorder of glycosylation skos:exactMatch OMIM:607091 congenital disorder of glycosylation, type iid semapv:UnspecifiedMatching MONDO:0011772 B4GALT1-congenital disorder of glycosylation skos:exactMatch Orphanet:79332 B4GALT1-CDG semapv:UnspecifiedMatching MONDO:0011772 B4GALT1-congenital disorder of glycosylation skos:exactMatch SCTID:725587007 semapv:UnspecifiedMatching MONDO:0011772 B4GALT1-congenital disorder of glycosylation skos:exactMatch UMLS:C2931009 semapv:UnspecifiedMatching MONDO:0011772 B4GALT1-congenital disorder of glycosylation skos:exactMatch mesh:C535753 semapv:UnspecifiedMatching MONDO:0011773 anauxetic dysplasia skos:exactMatch DOID:0080942 anauxetic dysplasia semapv:UnspecifiedMatching MONDO:0011773 anauxetic dysplasia skos:exactMatch MEDGEN:375972 semapv:UnspecifiedMatching MONDO:0011773 anauxetic dysplasia skos:exactMatch OMIMPS:607095 Anauxetic dysplasia semapv:UnspecifiedMatching MONDO:0011773 anauxetic dysplasia skos:exactMatch Orphanet:93347 Anauxetic dysplasia semapv:UnspecifiedMatching MONDO:0011773 anauxetic dysplasia skos:exactMatch UMLS:C1846796 semapv:UnspecifiedMatching MONDO:0011773 anauxetic dysplasia skos:exactMatch icd11.foundation:1897630209 Anauxetic dysplasia semapv:UnspecifiedMatching MONDO:0011773 anauxetic dysplasia skos:exactMatch mesh:C538256 semapv:UnspecifiedMatching MONDO:0011774 autosomal recessive nonsyndromic hearing loss 30 skos:exactMatch DOID:0110489 autosomal recessive nonsyndromic deafness 30 semapv:UnspecifiedMatching MONDO:0011774 autosomal recessive nonsyndromic hearing loss 30 skos:exactMatch MEDGEN:335521 semapv:UnspecifiedMatching MONDO:0011774 autosomal recessive nonsyndromic hearing loss 30 skos:exactMatch OMIM:607101 deafness, autosomal recessive 30 semapv:UnspecifiedMatching MONDO:0011774 autosomal recessive nonsyndromic hearing loss 30 skos:exactMatch UMLS:C1846784 semapv:UnspecifiedMatching MONDO:0011774 autosomal recessive nonsyndromic hearing loss 30 skos:exactMatch mesh:C564624 semapv:UnspecifiedMatching MONDO:0011775 nasopharyngeal carcinoma, susceptibility to, 1 skos:exactMatch MEDGEN:339597 semapv:UnspecifiedMatching MONDO:0011775 nasopharyngeal carcinoma, susceptibility to, 1 skos:exactMatch OMIM:607107 nasopharyngeal carcinoma semapv:UnspecifiedMatching MONDO:0011775 nasopharyngeal carcinoma, susceptibility to, 1 skos:exactMatch UMLS:C1846758 semapv:UnspecifiedMatching MONDO:0011776 CINCA syndrome skos:exactMatch DOID:0090029 CINCA Syndrome semapv:UnspecifiedMatching MONDO:0011776 CINCA syndrome skos:exactMatch MEDGEN:98370 semapv:UnspecifiedMatching MONDO:0011776 CINCA syndrome skos:exactMatch NCIT:C116380 Chronic Infantile Neurological Cutaneous and Articular Syndrome semapv:UnspecifiedMatching MONDO:0011776 CINCA syndrome skos:exactMatch OMIM:607115 CINCA syndrome semapv:UnspecifiedMatching MONDO:0011776 CINCA syndrome skos:exactMatch Orphanet:1451 CINCA syndrome semapv:UnspecifiedMatching MONDO:0011776 CINCA syndrome skos:exactMatch SCTID:239826001 semapv:UnspecifiedMatching MONDO:0011776 CINCA syndrome skos:exactMatch UMLS:C0409818 semapv:UnspecifiedMatching MONDO:0011777 Alzheimer disease 8 skos:exactMatch DOID:0110041 Alzheimer's disease 8 semapv:UnspecifiedMatching MONDO:0011777 Alzheimer disease 8 skos:exactMatch MEDGEN:375956 semapv:UnspecifiedMatching MONDO:0011777 Alzheimer disease 8 skos:exactMatch OMIM:607116 alzheimer disease 8 semapv:UnspecifiedMatching MONDO:0011777 Alzheimer disease 8 skos:exactMatch UMLS:C1846735 semapv:UnspecifiedMatching MONDO:0011777 Alzheimer disease 8 skos:exactMatch mesh:C564622 semapv:UnspecifiedMatching MONDO:0011778 multiple epiphyseal dysplasia, Al-Gazali type skos:exactMatch MEDGEN:335505 semapv:UnspecifiedMatching MONDO:0011778 multiple epiphyseal dysplasia, Al-Gazali type skos:exactMatch OMIM:607131 al-gazali-bakalinova syndrome semapv:UnspecifiedMatching MONDO:0011778 multiple epiphyseal dysplasia, Al-Gazali type skos:exactMatch Orphanet:166024 Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome semapv:UnspecifiedMatching MONDO:0011778 multiple epiphyseal dysplasia, Al-Gazali type skos:exactMatch SCTID:719688002 semapv:UnspecifiedMatching MONDO:0011778 multiple epiphyseal dysplasia, Al-Gazali type skos:exactMatch UMLS:C1846722 semapv:UnspecifiedMatching MONDO:0011778 multiple epiphyseal dysplasia, Al-Gazali type skos:exactMatch icd11.foundation:1359939784 Multiple epiphyseal dysplasia, Al-Gazali type semapv:UnspecifiedMatching MONDO:0011778 multiple epiphyseal dysplasia, Al-Gazali type skos:exactMatch mesh:C564621 semapv:UnspecifiedMatching MONDO:0011779 laryngeal atresia, encephalocele, and limb deformities skos:exactMatch MEDGEN:335504 semapv:UnspecifiedMatching MONDO:0011779 laryngeal atresia, encephalocele, and limb deformities skos:exactMatch OMIM:607132 laryngeal atresia, encephalocele, and limb deformities semapv:UnspecifiedMatching MONDO:0011779 laryngeal atresia, encephalocele, and limb deformities skos:exactMatch UMLS:C1846721 semapv:UnspecifiedMatching MONDO:0011779 laryngeal atresia, encephalocele, and limb deformities skos:exactMatch mesh:C564620 semapv:UnspecifiedMatching MONDO:0011780 specific language impairment 3 skos:exactMatch MEDGEN:375953 semapv:UnspecifiedMatching MONDO:0011780 specific language impairment 3 skos:exactMatch OMIM:607134 specific language impairment 3 semapv:UnspecifiedMatching MONDO:0011780 specific language impairment 3 skos:exactMatch UMLS:C1846719 semapv:UnspecifiedMatching MONDO:0011781 spinocerebellar ataxia type 17 skos:exactMatch DOID:0050967 spinocerebellar ataxia 17 semapv:UnspecifiedMatching MONDO:0011781 spinocerebellar ataxia type 17 skos:exactMatch MEDGEN:337637 semapv:UnspecifiedMatching MONDO:0011781 spinocerebellar ataxia type 17 skos:exactMatch NCIT:C179861 Spinocerebellar Ataxia Type 17 semapv:UnspecifiedMatching MONDO:0011781 spinocerebellar ataxia type 17 skos:exactMatch OMIM:607136 spinocerebellar ataxia 17 semapv:UnspecifiedMatching MONDO:0011781 spinocerebellar ataxia type 17 skos:exactMatch Orphanet:98759 Spinocerebellar ataxia type 17 semapv:UnspecifiedMatching MONDO:0011781 spinocerebellar ataxia type 17 skos:exactMatch SCTID:719249005 semapv:UnspecifiedMatching MONDO:0011781 spinocerebellar ataxia type 17 skos:exactMatch UMLS:C1846707 semapv:UnspecifiedMatching MONDO:0011781 spinocerebellar ataxia type 17 skos:exactMatch icd11.foundation:1173627424 Spinocerebellar ataxia type 17 semapv:UnspecifiedMatching MONDO:0011781 spinocerebellar ataxia type 17 skos:exactMatch mesh:C563505 semapv:UnspecifiedMatching MONDO:0011781 spinocerebellar ataxia type 17 skos:exactMatch mesh:C564616 semapv:UnspecifiedMatching MONDO:0011781 spinocerebellar ataxia type 17 skos:exactMatch mesh:C565866 semapv:UnspecifiedMatching MONDO:0011782 angioid streaks skos:exactMatch DOID:13401 angioid streaks semapv:UnspecifiedMatching MONDO:0011782 angioid streaks skos:exactMatch EFO:1000805 semapv:UnspecifiedMatching MONDO:0011782 angioid streaks skos:exactMatch MEDGEN:1541 semapv:UnspecifiedMatching MONDO:0011782 angioid streaks skos:exactMatch OMIM:607140 angioid streaks semapv:UnspecifiedMatching MONDO:0011782 angioid streaks skos:exactMatch UMLS:C0002982 semapv:UnspecifiedMatching MONDO:0011782 angioid streaks skos:exactMatch mesh:D000793 semapv:UnspecifiedMatching MONDO:0011783 ALG12-congenital disorder of glycosylation skos:exactMatch DOID:0080559 congenital disorder of glycosylation Ig semapv:UnspecifiedMatching MONDO:0011783 ALG12-congenital disorder of glycosylation skos:exactMatch MEDGEN:443954 semapv:UnspecifiedMatching MONDO:0011783 ALG12-congenital disorder of glycosylation skos:exactMatch NCIT:C126873 Congenital Disorder of Glycosylation Type Ig semapv:UnspecifiedMatching MONDO:0011783 ALG12-congenital disorder of glycosylation skos:exactMatch OMIM:607143 congenital disorder of glycosylation, type ig semapv:UnspecifiedMatching MONDO:0011783 ALG12-congenital disorder of glycosylation skos:exactMatch Orphanet:79324 ALG12-CDG semapv:UnspecifiedMatching MONDO:0011783 ALG12-congenital disorder of glycosylation skos:exactMatch SCTID:711155008 semapv:UnspecifiedMatching MONDO:0011783 ALG12-congenital disorder of glycosylation skos:exactMatch UMLS:C2931001 semapv:UnspecifiedMatching MONDO:0011783 ALG12-congenital disorder of glycosylation skos:exactMatch mesh:C535745 semapv:UnspecifiedMatching MONDO:0011784 Moyamoya disease 2 skos:exactMatch MEDGEN:339584 semapv:UnspecifiedMatching MONDO:0011784 Moyamoya disease 2 skos:exactMatch NCIT:C183312 Moyamoya Disease 2 semapv:UnspecifiedMatching MONDO:0011784 Moyamoya disease 2 skos:exactMatch OMIM:607151 moyamoya disease 2 semapv:UnspecifiedMatching MONDO:0011784 Moyamoya disease 2 skos:exactMatch UMLS:C1846689 semapv:UnspecifiedMatching MONDO:0011784 Moyamoya disease 2 skos:exactMatch mesh:C536992 semapv:UnspecifiedMatching MONDO:0011785 hereditary spastic paraplegia 19 skos:exactMatch DOID:0110772 hereditary spastic paraplegia 19 semapv:UnspecifiedMatching MONDO:0011785 hereditary spastic paraplegia 19 skos:exactMatch MEDGEN:335494 semapv:UnspecifiedMatching MONDO:0011785 hereditary spastic paraplegia 19 skos:exactMatch OMIM:607152 spastic paraplegia 19, autosomal dominant semapv:UnspecifiedMatching MONDO:0011785 hereditary spastic paraplegia 19 skos:exactMatch Orphanet:100999 Autosomal dominant spastic paraplegia type 19 semapv:UnspecifiedMatching MONDO:0011785 hereditary spastic paraplegia 19 skos:exactMatch SCTID:763375003 semapv:UnspecifiedMatching MONDO:0011785 hereditary spastic paraplegia 19 skos:exactMatch UMLS:C1846685 semapv:UnspecifiedMatching MONDO:0011785 hereditary spastic paraplegia 19 skos:exactMatch mesh:C536856 semapv:UnspecifiedMatching MONDO:0011786 allergic rhinitis skos:exactMatch DOID:4481 allergic rhinitis semapv:UnspecifiedMatching MONDO:0011786 allergic rhinitis skos:exactMatch EFO:0005854 semapv:UnspecifiedMatching MONDO:0011786 allergic rhinitis skos:exactMatch MEDGEN:382012 semapv:UnspecifiedMatching MONDO:0011786 allergic rhinitis skos:exactMatch NCIT:C79532 Allergic Rhinitis semapv:UnspecifiedMatching MONDO:0011786 allergic rhinitis skos:exactMatch SCTID:61582004 semapv:UnspecifiedMatching MONDO:0011786 allergic rhinitis skos:exactMatch UMLS:C2607914 semapv:UnspecifiedMatching MONDO:0011786 allergic rhinitis skos:exactMatch icd11.foundation:1711769234 Allergic rhinitis semapv:UnspecifiedMatching MONDO:0011787 autosomal recessive limb-girdle muscular dystrophy type 2I skos:exactMatch DOID:0110299 autosomal recessive limb-girdle muscular dystrophy type 2I semapv:UnspecifiedMatching MONDO:0011787 autosomal recessive limb-girdle muscular dystrophy type 2I skos:exactMatch MEDGEN:339580 semapv:UnspecifiedMatching MONDO:0011787 autosomal recessive limb-girdle muscular dystrophy type 2I skos:exactMatch NCIT:C126739 Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle) Type C, 5 semapv:UnspecifiedMatching MONDO:0011787 autosomal recessive limb-girdle muscular dystrophy type 2I skos:exactMatch OMIM:607155 muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 5 semapv:UnspecifiedMatching MONDO:0011787 autosomal recessive limb-girdle muscular dystrophy type 2I skos:exactMatch Orphanet:34515 FKRP-related limb-girdle muscular dystrophy R9 semapv:UnspecifiedMatching MONDO:0011787 autosomal recessive limb-girdle muscular dystrophy type 2I skos:exactMatch SCTID:718180000 semapv:UnspecifiedMatching MONDO:0011787 autosomal recessive limb-girdle muscular dystrophy type 2I skos:exactMatch UMLS:C1846672 semapv:UnspecifiedMatching MONDO:0011787 autosomal recessive limb-girdle muscular dystrophy type 2I skos:exactMatch mesh:C564612 semapv:UnspecifiedMatching MONDO:0011788 cloverleaf skull-multiple congenital anomalies syndrome skos:exactMatch MEDGEN:375942 semapv:UnspecifiedMatching MONDO:0011788 cloverleaf skull-multiple congenital anomalies syndrome skos:exactMatch OMIM:607161 multiple congenital anomalies syndrome with cloverleaf skull semapv:UnspecifiedMatching MONDO:0011788 cloverleaf skull-multiple congenital anomalies syndrome skos:exactMatch Orphanet:93267 Cloverleaf skull-multiple congenital anomalies syndrome semapv:UnspecifiedMatching MONDO:0011788 cloverleaf skull-multiple congenital anomalies syndrome skos:exactMatch SCTID:717771007 semapv:UnspecifiedMatching MONDO:0011788 cloverleaf skull-multiple congenital anomalies syndrome skos:exactMatch UMLS:C1846671 semapv:UnspecifiedMatching MONDO:0011788 cloverleaf skull-multiple congenital anomalies syndrome skos:exactMatch mesh:C564611 semapv:UnspecifiedMatching MONDO:0011789 familial meningioma skos:exactMatch DOID:4586 familial meningioma semapv:UnspecifiedMatching MONDO:0011789 familial meningioma skos:exactMatch MEDGEN:764829 semapv:UnspecifiedMatching MONDO:0011789 familial meningioma skos:exactMatch NCIT:C5301 Hereditary Meningioma semapv:UnspecifiedMatching MONDO:0011789 familial meningioma skos:exactMatch OMIM:607174 meningioma, familial, susceptibility to semapv:UnspecifiedMatching MONDO:0011789 familial meningioma skos:exactMatch UMLS:C3551915 semapv:UnspecifiedMatching MONDO:0011789 familial meningioma skos:exactMatch mesh:C537443 semapv:UnspecifiedMatching MONDO:0011790 Amish lethal microcephaly skos:exactMatch MEDGEN:375938 semapv:UnspecifiedMatching MONDO:0011790 Amish lethal microcephaly skos:exactMatch OMIM:607196 microcephaly, amish type semapv:UnspecifiedMatching MONDO:0011790 Amish lethal microcephaly skos:exactMatch Orphanet:99742 Amish lethal microcephaly semapv:UnspecifiedMatching MONDO:0011790 Amish lethal microcephaly skos:exactMatch SCTID:702437000 semapv:UnspecifiedMatching MONDO:0011790 Amish lethal microcephaly skos:exactMatch UMLS:C1846648 semapv:UnspecifiedMatching MONDO:0011790 Amish lethal microcephaly skos:exactMatch mesh:C538247 semapv:UnspecifiedMatching MONDO:0011792 thyroid dyshormonogenesis 6 skos:exactMatch DOID:0112189 thyroid dyshormonogenesis 6 semapv:UnspecifiedMatching MONDO:0011792 thyroid dyshormonogenesis 6 skos:exactMatch MEDGEN:375935 semapv:UnspecifiedMatching MONDO:0011792 thyroid dyshormonogenesis 6 skos:exactMatch OMIM:607200 thyroid dyshormonogenesis 6 semapv:UnspecifiedMatching MONDO:0011792 thyroid dyshormonogenesis 6 skos:exactMatch Orphanet:226316 Genetic transient congenital hypothyroidism semapv:UnspecifiedMatching MONDO:0011792 thyroid dyshormonogenesis 6 skos:exactMatch UMLS:C1846632 semapv:UnspecifiedMatching MONDO:0011792 thyroid dyshormonogenesis 6 skos:exactMatch mesh:C564608 semapv:UnspecifiedMatching MONDO:0011793 celiac disease, susceptibility to, 5 skos:exactMatch MEDGEN:337622 semapv:UnspecifiedMatching MONDO:0011793 celiac disease, susceptibility to, 5 skos:exactMatch OMIM:607202 celiac disease, susceptibility to, 5 semapv:UnspecifiedMatching MONDO:0011793 celiac disease, susceptibility to, 5 skos:exactMatch UMLS:C1846631 semapv:UnspecifiedMatching MONDO:0011794 obsolete Dravet syndrome skos:exactMatch Orphanet:33069 Dravet syndrome semapv:UnspecifiedMatching MONDO:0011795 anonychia-microcephaly syndrome skos:exactMatch MEDGEN:339565 semapv:UnspecifiedMatching MONDO:0011795 anonychia-microcephaly syndrome skos:exactMatch OMIM:607214 anonychia, total, with microcephaly semapv:UnspecifiedMatching MONDO:0011795 anonychia-microcephaly syndrome skos:exactMatch Orphanet:1094 Anonychia-microcephaly syndrome semapv:UnspecifiedMatching MONDO:0011795 anonychia-microcephaly syndrome skos:exactMatch SCTID:720494009 semapv:UnspecifiedMatching MONDO:0011795 anonychia-microcephaly syndrome skos:exactMatch UMLS:C1846617 semapv:UnspecifiedMatching MONDO:0011796 epilepsy, partial, with pericentral spikes skos:exactMatch MEDGEN:337614 semapv:UnspecifiedMatching MONDO:0011796 epilepsy, partial, with pericentral spikes skos:exactMatch OMIM:607221 epilepsy, partial, with pericentral spikes semapv:UnspecifiedMatching MONDO:0011796 epilepsy, partial, with pericentral spikes skos:exactMatch UMLS:C1846609 semapv:UnspecifiedMatching MONDO:0011796 epilepsy, partial, with pericentral spikes skos:exactMatch mesh:C564605 semapv:UnspecifiedMatching MONDO:0011797 infantile-onset ascending hereditary spastic paralysis skos:exactMatch MEDGEN:419413 semapv:UnspecifiedMatching MONDO:0011797 infantile-onset ascending hereditary spastic paralysis skos:exactMatch OMIM:607225 spastic paralysis, infantile-onset ascending semapv:UnspecifiedMatching MONDO:0011797 infantile-onset ascending hereditary spastic paralysis skos:exactMatch Orphanet:293168 Infantile-onset ascending hereditary spastic paralysis semapv:UnspecifiedMatching MONDO:0011797 infantile-onset ascending hereditary spastic paralysis skos:exactMatch SCTID:703543005 semapv:UnspecifiedMatching MONDO:0011797 infantile-onset ascending hereditary spastic paralysis skos:exactMatch UMLS:C2931441 semapv:UnspecifiedMatching MONDO:0011797 infantile-onset ascending hereditary spastic paralysis skos:exactMatch mesh:C537217 semapv:UnspecifiedMatching MONDO:0011798 hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration skos:exactMatch MEDGEN:337612 semapv:UnspecifiedMatching MONDO:0011798 hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration skos:exactMatch UMLS:C1846582 semapv:UnspecifiedMatching MONDO:0011798 hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration skos:exactMatch mesh:C564603 semapv:UnspecifiedMatching MONDO:0011799 autosomal recessive nonsyndromic hearing loss 33 skos:exactMatch DOID:0110492 autosomal recessive nonsyndromic deafness 33 semapv:UnspecifiedMatching MONDO:0011799 autosomal recessive nonsyndromic hearing loss 33 skos:exactMatch MEDGEN:335464 semapv:UnspecifiedMatching MONDO:0011799 autosomal recessive nonsyndromic hearing loss 33 skos:exactMatch OMIM:607239 deafness, autosomal recessive 33 semapv:UnspecifiedMatching MONDO:0011799 autosomal recessive nonsyndromic hearing loss 33 skos:exactMatch UMLS:C1846576 semapv:UnspecifiedMatching MONDO:0011799 autosomal recessive nonsyndromic hearing loss 33 skos:exactMatch mesh:C564602 semapv:UnspecifiedMatching MONDO:0011800 glioma susceptibility 4 skos:exactMatch MEDGEN:416425 semapv:UnspecifiedMatching MONDO:0011800 glioma susceptibility 4 skos:exactMatch OMIM:607248 glioma susceptibility 4 semapv:UnspecifiedMatching MONDO:0011800 glioma susceptibility 4 skos:exactMatch UMLS:C2750944 semapv:UnspecifiedMatching MONDO:0011801 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 skos:exactMatch DOID:0090115 spinocerebellar ataxia with axonal neuropathy 1 semapv:UnspecifiedMatching MONDO:0011801 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 skos:exactMatch MEDGEN:1683470 semapv:UnspecifiedMatching MONDO:0011801 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 skos:exactMatch OMIM:607250 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 semapv:UnspecifiedMatching MONDO:0011801 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 skos:exactMatch Orphanet:94124 Spinocerebellar ataxia with axonal neuropathy type 1 semapv:UnspecifiedMatching MONDO:0011801 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 skos:exactMatch SCTID:765091006 semapv:UnspecifiedMatching MONDO:0011801 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 skos:exactMatch UMLS:C4759870 semapv:UnspecifiedMatching MONDO:0011801 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 skos:exactMatch mesh:C537313 semapv:UnspecifiedMatching MONDO:0011802 hypercalciuria, absorptive, 1 skos:exactMatch MEDGEN:375924 semapv:UnspecifiedMatching MONDO:0011802 hypercalciuria, absorptive, 1 skos:exactMatch OMIM:607258 hypercalciuria, absorptive, 1 semapv:UnspecifiedMatching MONDO:0011802 hypercalciuria, absorptive, 1 skos:exactMatch UMLS:C1846573 semapv:UnspecifiedMatching MONDO:0011802 hypercalciuria, absorptive, 1 skos:exactMatch mesh:C564600 semapv:UnspecifiedMatching MONDO:0011803 hereditary spastic paraplegia 7 skos:exactMatch DOID:0110816 hereditary spastic paraplegia 7 semapv:UnspecifiedMatching MONDO:0011803 hereditary spastic paraplegia 7 skos:exactMatch MEDGEN:339552 semapv:UnspecifiedMatching MONDO:0011803 hereditary spastic paraplegia 7 skos:exactMatch OMIM:607259 spastic paraplegia 7, autosomal recessive, with or without cerebellar ataxia semapv:UnspecifiedMatching MONDO:0011803 hereditary spastic paraplegia 7 skos:exactMatch Orphanet:99013 Spastic paraplegia type 7 semapv:UnspecifiedMatching MONDO:0011803 hereditary spastic paraplegia 7 skos:exactMatch SCTID:715776003 semapv:UnspecifiedMatching MONDO:0011803 hereditary spastic paraplegia 7 skos:exactMatch UMLS:C1846564 semapv:UnspecifiedMatching MONDO:0011803 hereditary spastic paraplegia 7 skos:exactMatch mesh:C564599 semapv:UnspecifiedMatching MONDO:0011804 autoimmune lymphoproliferative syndrome type 2B skos:exactMatch DOID:0110116 autoimmune lymphoproliferative syndrome type 2B semapv:UnspecifiedMatching MONDO:0011804 autoimmune lymphoproliferative syndrome type 2B skos:exactMatch MEDGEN:339548 semapv:UnspecifiedMatching MONDO:0011804 autoimmune lymphoproliferative syndrome type 2B skos:exactMatch OMIM:607271 caspase 8 deficiency semapv:UnspecifiedMatching MONDO:0011804 autoimmune lymphoproliferative syndrome type 2B skos:exactMatch Orphanet:275517 Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency semapv:UnspecifiedMatching MONDO:0011804 autoimmune lymphoproliferative syndrome type 2B skos:exactMatch SCTID:722290008 semapv:UnspecifiedMatching MONDO:0011804 autoimmune lymphoproliferative syndrome type 2B skos:exactMatch UMLS:C1846545 semapv:UnspecifiedMatching MONDO:0011805 asthma-related traits, susceptibility to, 1 skos:exactMatch MEDGEN:339547 semapv:UnspecifiedMatching MONDO:0011805 asthma-related traits, susceptibility to, 1 skos:exactMatch OMIM:607277 asthma-related traits, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0011805 asthma-related traits, susceptibility to, 1 skos:exactMatch UMLS:C1846534 semapv:UnspecifiedMatching MONDO:0011806 osteofibrous dysplasia skos:exactMatch MEDGEN:895748 semapv:UnspecifiedMatching MONDO:0011806 osteofibrous dysplasia skos:exactMatch NCIT:C53970 Osteofibrous Dysplasia semapv:UnspecifiedMatching MONDO:0011806 osteofibrous dysplasia skos:exactMatch OMIM:607278 osteofibrous dysplasia, susceptibility to semapv:UnspecifiedMatching MONDO:0011806 osteofibrous dysplasia skos:exactMatch Orphanet:488265 Osteofibrous dysplasia semapv:UnspecifiedMatching MONDO:0011806 osteofibrous dysplasia skos:exactMatch UMLS:C4085248 semapv:UnspecifiedMatching MONDO:0011806 osteofibrous dysplasia skos:exactMatch mesh:C563276 semapv:UnspecifiedMatching MONDO:0011806 osteofibrous dysplasia skos:exactMatch mesh:C563787 semapv:UnspecifiedMatching MONDO:0011807 systemic lupus erythematosus with hemolytic anemia, susceptibility to, 1 skos:exactMatch MEDGEN:375913 semapv:UnspecifiedMatching MONDO:0011807 systemic lupus erythematosus with hemolytic anemia, susceptibility to, 1 skos:exactMatch OMIM:607279 systemic lupus erythematosus with hemolytic anemia, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0011807 systemic lupus erythematosus with hemolytic anemia, susceptibility to, 1 skos:exactMatch UMLS:C1846533 semapv:UnspecifiedMatching MONDO:0011808 cataract 27 skos:exactMatch DOID:0110233 cataract 27 semapv:UnspecifiedMatching MONDO:0011808 cataract 27 skos:exactMatch MEDGEN:335448 semapv:UnspecifiedMatching MONDO:0011808 cataract 27 skos:exactMatch OMIM:607304 cataract 27 semapv:UnspecifiedMatching MONDO:0011808 cataract 27 skos:exactMatch UMLS:C1846520 semapv:UnspecifiedMatching MONDO:0011808 cataract 27 skos:exactMatch mesh:C564596 semapv:UnspecifiedMatching MONDO:0011809 obsolete mammographic density skos:exactMatch OMIM:607308 mammographic density semapv:UnspecifiedMatching MONDO:0011809 obsolete mammographic density skos:exactMatch mesh:C564595 semapv:UnspecifiedMatching MONDO:0011810 horizontal gaze palsy with progressive scoliosis skos:exactMatch MEDGEN:339538 semapv:UnspecifiedMatching MONDO:0011810 horizontal gaze palsy with progressive scoliosis skos:exactMatch OMIMPS:607313 Gaze palsy, familial horizontal, with progressive scoliosis semapv:UnspecifiedMatching MONDO:0011810 horizontal gaze palsy with progressive scoliosis skos:exactMatch Orphanet:2744 Horizontal gaze palsy with progressive scoliosis semapv:UnspecifiedMatching MONDO:0011810 horizontal gaze palsy with progressive scoliosis skos:exactMatch SCTID:702381007 semapv:UnspecifiedMatching MONDO:0011810 horizontal gaze palsy with progressive scoliosis skos:exactMatch UMLS:C1846496 semapv:UnspecifiedMatching MONDO:0011810 horizontal gaze palsy with progressive scoliosis skos:exactMatch icd11.foundation:226403142 Horizontal gaze palsy with progressive scoliosis semapv:UnspecifiedMatching MONDO:0011810 horizontal gaze palsy with progressive scoliosis skos:exactMatch mesh:C564593 semapv:UnspecifiedMatching MONDO:0011811 autosomal recessive cerebellar ataxia-saccadic intrusion syndrome skos:exactMatch DOID:0111611 autosomal recessive spinocerebellar ataxia 4 semapv:UnspecifiedMatching MONDO:0011811 autosomal recessive cerebellar ataxia-saccadic intrusion syndrome skos:exactMatch MEDGEN:335442 semapv:UnspecifiedMatching MONDO:0011811 autosomal recessive cerebellar ataxia-saccadic intrusion syndrome skos:exactMatch OMIM:607317 spinocerebellar ataxia, autosomal recessive 4 semapv:UnspecifiedMatching MONDO:0011811 autosomal recessive cerebellar ataxia-saccadic intrusion syndrome skos:exactMatch Orphanet:95434 Autosomal recessive cerebellar ataxia-movement disorder syndrome semapv:UnspecifiedMatching MONDO:0011811 autosomal recessive cerebellar ataxia-saccadic intrusion syndrome skos:exactMatch UMLS:C1846492 semapv:UnspecifiedMatching MONDO:0011811 autosomal recessive cerebellar ataxia-saccadic intrusion syndrome skos:exactMatch mesh:C537310 semapv:UnspecifiedMatching MONDO:0011812 Duane-radial ray syndrome skos:exactMatch DOID:0060747 Duane-radial ray syndrome semapv:UnspecifiedMatching MONDO:0011812 Duane-radial ray syndrome skos:exactMatch MEDGEN:301647 semapv:UnspecifiedMatching MONDO:0011812 Duane-radial ray syndrome skos:exactMatch OMIM:607323 duane-radial ray syndrome semapv:UnspecifiedMatching MONDO:0011812 Duane-radial ray syndrome skos:exactMatch Orphanet:93293 Okihiro syndrome semapv:UnspecifiedMatching MONDO:0011812 Duane-radial ray syndrome skos:exactMatch Orphanet:959 Acro-renal-ocular syndrome semapv:UnspecifiedMatching MONDO:0011812 Duane-radial ray syndrome skos:exactMatch SCTID:699867001 semapv:UnspecifiedMatching MONDO:0011812 Duane-radial ray syndrome skos:exactMatch SCTID:720415006 semapv:UnspecifiedMatching MONDO:0011812 Duane-radial ray syndrome skos:exactMatch UMLS:C1623209 semapv:UnspecifiedMatching MONDO:0011813 polydactyly, postaxial, type A3 skos:exactMatch MEDGEN:337585 semapv:UnspecifiedMatching MONDO:0011813 polydactyly, postaxial, type A3 skos:exactMatch OMIM:607324 polydactyly, postaxial, type a3 semapv:UnspecifiedMatching MONDO:0011813 polydactyly, postaxial, type A3 skos:exactMatch UMLS:C1846452 semapv:UnspecifiedMatching MONDO:0011813 polydactyly, postaxial, type A3 skos:exactMatch mesh:C564590 semapv:UnspecifiedMatching MONDO:0011814 Smith-McCort dysplasia 1 skos:exactMatch DOID:0081270 Smith-McCort dysplasia 1 semapv:UnspecifiedMatching MONDO:0011814 Smith-McCort dysplasia 1 skos:exactMatch MEDGEN:854757 semapv:UnspecifiedMatching MONDO:0011814 Smith-McCort dysplasia 1 skos:exactMatch OMIM:607326 smith-mccort dysplasia 1 semapv:UnspecifiedMatching MONDO:0011814 Smith-McCort dysplasia 1 skos:exactMatch UMLS:C3888088 semapv:UnspecifiedMatching MONDO:0011815 hypertension, essential, susceptibility to, 3 skos:exactMatch MEDGEN:339523 semapv:UnspecifiedMatching MONDO:0011815 hypertension, essential, susceptibility to, 3 skos:exactMatch OMIM:607329 hypertension, essential, susceptibility to, 3 semapv:UnspecifiedMatching MONDO:0011815 hypertension, essential, susceptibility to, 3 skos:exactMatch UMLS:C1846430 semapv:UnspecifiedMatching MONDO:0011816 lathosterolosis skos:exactMatch MEDGEN:375885 semapv:UnspecifiedMatching MONDO:0011816 lathosterolosis skos:exactMatch OMIM:607330 lathosterolosis semapv:UnspecifiedMatching MONDO:0011816 lathosterolosis skos:exactMatch Orphanet:46059 Lathosterolosis semapv:UnspecifiedMatching MONDO:0011816 lathosterolosis skos:exactMatch SCTID:719257008 semapv:UnspecifiedMatching MONDO:0011816 lathosterolosis skos:exactMatch UMLS:C1846421 semapv:UnspecifiedMatching MONDO:0011816 lathosterolosis skos:exactMatch icd11.foundation:1816858203 Lathosterolosis semapv:UnspecifiedMatching MONDO:0011816 lathosterolosis skos:exactMatch mesh:C537880 semapv:UnspecifiedMatching MONDO:0011817 coronary heart disease, susceptibility to, 1 skos:exactMatch MEDGEN:375884 semapv:UnspecifiedMatching MONDO:0011817 coronary heart disease, susceptibility to, 1 skos:exactMatch OMIM:607339 coronary heart disease, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0011817 coronary heart disease, susceptibility to, 1 skos:exactMatch UMLS:C1846418 semapv:UnspecifiedMatching MONDO:0011818 isolated focal cortical dysplasia type II skos:exactMatch MEDGEN:339510 semapv:UnspecifiedMatching MONDO:0011818 isolated focal cortical dysplasia type II skos:exactMatch OMIM:607341 focal cortical dysplasia, type 2 semapv:UnspecifiedMatching MONDO:0011818 isolated focal cortical dysplasia type II skos:exactMatch Orphanet:268994 Isolated focal cortical dysplasia type II semapv:UnspecifiedMatching MONDO:0011818 isolated focal cortical dysplasia type II skos:exactMatch UMLS:C1846385 semapv:UnspecifiedMatching MONDO:0011818 isolated focal cortical dysplasia type II skos:exactMatch mesh:C537067 semapv:UnspecifiedMatching MONDO:0011819 spinocerebellar ataxia type 19/22 skos:exactMatch DOID:0050970 spinocerebellar ataxia 19/22 semapv:UnspecifiedMatching MONDO:0011819 spinocerebellar ataxia type 19/22 skos:exactMatch MEDGEN:339504 semapv:UnspecifiedMatching MONDO:0011819 spinocerebellar ataxia type 19/22 skos:exactMatch NCIT:C163756 Spinocerebellar Ataxia Type 19/22 semapv:UnspecifiedMatching MONDO:0011819 spinocerebellar ataxia type 19/22 skos:exactMatch OMIM:607346 spinocerebellar ataxia 19 semapv:UnspecifiedMatching MONDO:0011819 spinocerebellar ataxia type 19/22 skos:exactMatch Orphanet:98772 Spinocerebellar ataxia type 19/22 semapv:UnspecifiedMatching MONDO:0011819 spinocerebellar ataxia type 19/22 skos:exactMatch SCTID:719251009 semapv:UnspecifiedMatching MONDO:0011819 spinocerebellar ataxia type 19/22 skos:exactMatch UMLS:C1846367 semapv:UnspecifiedMatching MONDO:0011819 spinocerebellar ataxia type 19/22 skos:exactMatch mesh:C537198 semapv:UnspecifiedMatching MONDO:0011819 spinocerebellar ataxia type 19/22 skos:exactMatch mesh:C542540 semapv:UnspecifiedMatching MONDO:0011820 scoliosis, isolated, susceptibility to, 2 skos:exactMatch MEDGEN:375871 semapv:UnspecifiedMatching MONDO:0011820 scoliosis, isolated, susceptibility to, 2 skos:exactMatch OMIM:607354 scoliosis, isolated, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0011820 scoliosis, isolated, susceptibility to, 2 skos:exactMatch UMLS:C1846366 semapv:UnspecifiedMatching MONDO:0011821 Meckel syndrome, type 3 skos:exactMatch DOID:0070117 Meckel syndrome 3 semapv:UnspecifiedMatching MONDO:0011821 Meckel syndrome, type 3 skos:exactMatch MEDGEN:335402 semapv:UnspecifiedMatching MONDO:0011821 Meckel syndrome, type 3 skos:exactMatch OMIM:607361 meckel syndrome, type 3 semapv:UnspecifiedMatching MONDO:0011821 Meckel syndrome, type 3 skos:exactMatch UMLS:C1846357 semapv:UnspecifiedMatching MONDO:0011821 Meckel syndrome, type 3 skos:exactMatch mesh:C536132 semapv:UnspecifiedMatching MONDO:0011822 Bartter disease type 3 skos:exactMatch DOID:0110144 Bartter disease type 3 semapv:UnspecifiedMatching MONDO:0011822 Bartter disease type 3 skos:exactMatch MEDGEN:335399 semapv:UnspecifiedMatching MONDO:0011822 Bartter disease type 3 skos:exactMatch OMIM:607364 bartter syndrome, type 3 semapv:UnspecifiedMatching MONDO:0011822 Bartter disease type 3 skos:exactMatch Orphanet:93605 Bartter syndrome type 3 semapv:UnspecifiedMatching MONDO:0011822 Bartter disease type 3 skos:exactMatch SCTID:700111000 semapv:UnspecifiedMatching MONDO:0011822 Bartter disease type 3 skos:exactMatch UMLS:C1846343 semapv:UnspecifiedMatching MONDO:0011823 developmental malformations-deafness-dystonia syndrome skos:exactMatch MEDGEN:1848671 semapv:UnspecifiedMatching MONDO:0011823 developmental malformations-deafness-dystonia syndrome skos:exactMatch OMIM:607371 dystonia-deafness syndrome 1 semapv:UnspecifiedMatching MONDO:0011823 developmental malformations-deafness-dystonia syndrome skos:exactMatch Orphanet:79107 Developmental malformations-deafness-dystonia syndrome semapv:UnspecifiedMatching MONDO:0011823 developmental malformations-deafness-dystonia syndrome skos:exactMatch UMLS:C5848323 semapv:UnspecifiedMatching MONDO:0011823 developmental malformations-deafness-dystonia syndrome skos:exactMatch mesh:C537704 semapv:UnspecifiedMatching MONDO:0011824 autism, susceptibility to, 8 skos:exactMatch MEDGEN:409897 semapv:UnspecifiedMatching MONDO:0011824 autism, susceptibility to, 8 skos:exactMatch OMIM:607373 autism, susceptibility to, 8 semapv:UnspecifiedMatching MONDO:0011824 autism, susceptibility to, 8 skos:exactMatch UMLS:C1969710 semapv:UnspecifiedMatching MONDO:0011825 streptococcus, group A, severity of infection by skos:exactMatch MEDGEN:375858 semapv:UnspecifiedMatching MONDO:0011825 streptococcus, group A, severity of infection by skos:exactMatch OMIM:607395 streptococcus, group a, severity of infection by semapv:UnspecifiedMatching MONDO:0011825 streptococcus, group A, severity of infection by skos:exactMatch UMLS:C1846298 semapv:UnspecifiedMatching MONDO:0011826 glucocorticoid deficiency 2 skos:exactMatch DOID:0061242 semapv:UnspecifiedMatching MONDO:0011826 glucocorticoid deficiency 2 skos:exactMatch MEDGEN:891117 semapv:UnspecifiedMatching MONDO:0011826 glucocorticoid deficiency 2 skos:exactMatch NCIT:C123728 Familial Glucocorticoid Deficiency Type 2 semapv:UnspecifiedMatching MONDO:0011826 glucocorticoid deficiency 2 skos:exactMatch OMIM:607398 glucocorticoid deficiency 2 semapv:UnspecifiedMatching MONDO:0011826 glucocorticoid deficiency 2 skos:exactMatch UMLS:C4049714 semapv:UnspecifiedMatching MONDO:0011826 glucocorticoid deficiency 2 skos:exactMatch mesh:C564577 semapv:UnspecifiedMatching MONDO:0011827 patent ductus arteriosus skos:exactMatch DOID:13832 patent ductus arteriosus semapv:UnspecifiedMatching MONDO:0011827 patent ductus arteriosus skos:exactMatch ICD10CM:Q25.0 Patent ductus arteriosus semapv:UnspecifiedMatching MONDO:0011827 patent ductus arteriosus skos:exactMatch MEDGEN:4415 semapv:UnspecifiedMatching MONDO:0011827 patent ductus arteriosus skos:exactMatch NCIT:C84492 Patent Ductus Arteriosus semapv:UnspecifiedMatching MONDO:0011827 patent ductus arteriosus skos:exactMatch OMIMPS:607411 Patent ductus arteriosus semapv:UnspecifiedMatching MONDO:0011827 patent ductus arteriosus skos:exactMatch Orphanet:466729 Familial patent arterial duct semapv:UnspecifiedMatching MONDO:0011827 patent ductus arteriosus skos:exactMatch SCTID:83330001 semapv:UnspecifiedMatching MONDO:0011827 patent ductus arteriosus skos:exactMatch UMLS:C0013274 semapv:UnspecifiedMatching MONDO:0011827 patent ductus arteriosus skos:exactMatch icd11.foundation:1262462321 Patent arterial duct semapv:UnspecifiedMatching MONDO:0011827 patent ductus arteriosus skos:exactMatch mesh:D004374 semapv:UnspecifiedMatching MONDO:0011828 intellectual disability, autosomal recessive 2 skos:exactMatch DOID:0081178 autosomal recessive intellectual developmental disorder 2 semapv:UnspecifiedMatching MONDO:0011828 intellectual disability, autosomal recessive 2 skos:exactMatch MEDGEN:334541 semapv:UnspecifiedMatching MONDO:0011828 intellectual disability, autosomal recessive 2 skos:exactMatch OMIM:607417 intellectual developmental disorder, autosomal recessive 2 semapv:UnspecifiedMatching MONDO:0011828 intellectual disability, autosomal recessive 2 skos:exactMatch UMLS:C1843942 semapv:UnspecifiedMatching MONDO:0011828 intellectual disability, autosomal recessive 2 skos:exactMatch mesh:C564404 semapv:UnspecifiedMatching MONDO:0011829 coenzyme Q10 deficiency, primary, 1 skos:exactMatch DOID:0070238 primary coenzyme Q10 deficiency 1 semapv:UnspecifiedMatching MONDO:0011829 coenzyme Q10 deficiency, primary, 1 skos:exactMatch MEDGEN:764868 semapv:UnspecifiedMatching MONDO:0011829 coenzyme Q10 deficiency, primary, 1 skos:exactMatch OMIM:607426 coenzyme Q10 deficiency, primary, 1 semapv:UnspecifiedMatching MONDO:0011829 coenzyme Q10 deficiency, primary, 1 skos:exactMatch UMLS:C3551954 semapv:UnspecifiedMatching MONDO:0011830 lissencephaly due to LIS1 mutation skos:exactMatch DOID:0112237 lissencephaly 1 semapv:UnspecifiedMatching MONDO:0011830 lissencephaly due to LIS1 mutation skos:exactMatch MEDGEN:1657090 semapv:UnspecifiedMatching MONDO:0011830 lissencephaly due to LIS1 mutation skos:exactMatch OMIM:607432 lissencephaly 1 semapv:UnspecifiedMatching MONDO:0011830 lissencephaly due to LIS1 mutation skos:exactMatch Orphanet:95232 Lissencephaly due to LIS1 mutation semapv:UnspecifiedMatching MONDO:0011830 lissencephaly due to LIS1 mutation skos:exactMatch UMLS:C4749301 semapv:UnspecifiedMatching MONDO:0011831 arrhythmogenic right ventricular dysplasia 8 skos:exactMatch DOID:0110076 arrhythmogenic right ventricular dysplasia 8 semapv:UnspecifiedMatching MONDO:0011831 arrhythmogenic right ventricular dysplasia 8 skos:exactMatch MEDGEN:336069 semapv:UnspecifiedMatching MONDO:0011831 arrhythmogenic right ventricular dysplasia 8 skos:exactMatch OMIM:607450 arrhythmogenic right ventricular dysplasia, familial, 8 semapv:UnspecifiedMatching MONDO:0011831 arrhythmogenic right ventricular dysplasia 8 skos:exactMatch UMLS:C1843896 semapv:UnspecifiedMatching MONDO:0011831 arrhythmogenic right ventricular dysplasia 8 skos:exactMatch mesh:C564400 semapv:UnspecifiedMatching MONDO:0011832 autosomal dominant nonsyndromic hearing loss 44 skos:exactMatch DOID:0110569 autosomal dominant nonsyndromic deafness 44 semapv:UnspecifiedMatching MONDO:0011832 autosomal dominant nonsyndromic hearing loss 44 skos:exactMatch MEDGEN:334525 semapv:UnspecifiedMatching MONDO:0011832 autosomal dominant nonsyndromic hearing loss 44 skos:exactMatch OMIM:607453 deafness, autosomal dominant 44 semapv:UnspecifiedMatching MONDO:0011832 autosomal dominant nonsyndromic hearing loss 44 skos:exactMatch UMLS:C1843895 semapv:UnspecifiedMatching MONDO:0011832 autosomal dominant nonsyndromic hearing loss 44 skos:exactMatch mesh:C564399 semapv:UnspecifiedMatching MONDO:0011833 spinocerebellar ataxia type 21 skos:exactMatch DOID:0050972 spinocerebellar ataxia 21 semapv:UnspecifiedMatching MONDO:0011833 spinocerebellar ataxia type 21 skos:exactMatch MEDGEN:375311 semapv:UnspecifiedMatching MONDO:0011833 spinocerebellar ataxia type 21 skos:exactMatch OMIM:607454 spinocerebellar ataxia 21 semapv:UnspecifiedMatching MONDO:0011833 spinocerebellar ataxia type 21 skos:exactMatch Orphanet:98773 Spinocerebellar ataxia type 21 semapv:UnspecifiedMatching MONDO:0011833 spinocerebellar ataxia type 21 skos:exactMatch SCTID:718774001 semapv:UnspecifiedMatching MONDO:0011833 spinocerebellar ataxia type 21 skos:exactMatch UMLS:C1843891 semapv:UnspecifiedMatching MONDO:0011833 spinocerebellar ataxia type 21 skos:exactMatch icd11.foundation:1426889593 Spinocerebellar ataxia type 21 semapv:UnspecifiedMatching MONDO:0011833 spinocerebellar ataxia type 21 skos:exactMatch mesh:C537200 semapv:UnspecifiedMatching MONDO:0011834 spinocerebellar ataxia type 18 skos:exactMatch DOID:0050969 spinocerebellar ataxia 18 semapv:UnspecifiedMatching MONDO:0011834 spinocerebellar ataxia type 18 skos:exactMatch MEDGEN:336066 semapv:UnspecifiedMatching MONDO:0011834 spinocerebellar ataxia type 18 skos:exactMatch OMIM:607458 spinocerebellar ataxia 18 semapv:UnspecifiedMatching MONDO:0011834 spinocerebellar ataxia type 18 skos:exactMatch Orphanet:98771 Spinocerebellar ataxia type 18 semapv:UnspecifiedMatching MONDO:0011834 spinocerebellar ataxia type 18 skos:exactMatch SCTID:719250005 semapv:UnspecifiedMatching MONDO:0011834 spinocerebellar ataxia type 18 skos:exactMatch UMLS:C1843884 semapv:UnspecifiedMatching MONDO:0011834 spinocerebellar ataxia type 18 skos:exactMatch icd11.foundation:1564628854 Spinocerebellar ataxia type 18 semapv:UnspecifiedMatching MONDO:0011834 spinocerebellar ataxia type 18 skos:exactMatch mesh:C537197 semapv:UnspecifiedMatching MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis skos:exactMatch DOID:0111276 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis semapv:UnspecifiedMatching MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis skos:exactMatch MEDGEN:375302 semapv:UnspecifiedMatching MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis skos:exactMatch OMIM:607459 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis semapv:UnspecifiedMatching MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis skos:exactMatch Orphanet:402082 Progressive myoclonic epilepsy type 5 semapv:UnspecifiedMatching MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis skos:exactMatch Orphanet:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome semapv:UnspecifiedMatching MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis skos:exactMatch UMLS:C1843851 semapv:UnspecifiedMatching MONDO:0011836 thyroid Hurthle cell carcinoma skos:exactMatch DOID:8161 oncocytic carcinoma of the thyroid semapv:UnspecifiedMatching MONDO:0011836 thyroid Hurthle cell carcinoma skos:exactMatch MEDGEN:196672 semapv:UnspecifiedMatching MONDO:0011836 thyroid Hurthle cell carcinoma skos:exactMatch NCIT:C4946 Thyroid Gland Oncocytic Carcinoma semapv:UnspecifiedMatching MONDO:0011836 thyroid Hurthle cell carcinoma skos:exactMatch OMIM:607464 thyroid carcinoma, hurthle cell semapv:UnspecifiedMatching MONDO:0011836 thyroid Hurthle cell carcinoma skos:exactMatch SCTID:423158009 semapv:UnspecifiedMatching MONDO:0011836 thyroid Hurthle cell carcinoma skos:exactMatch UMLS:C0749424 semapv:UnspecifiedMatching MONDO:0011836 thyroid Hurthle cell carcinoma skos:exactMatch mesh:C536913 semapv:UnspecifiedMatching MONDO:0011837 vitamin K-dependent clotting factors, combined deficiency of, type 2 skos:exactMatch DOID:0112174 combined deficiency of vitamin K-dependent clotting factors 2 semapv:UnspecifiedMatching MONDO:0011837 vitamin K-dependent clotting factors, combined deficiency of, type 2 skos:exactMatch MEDGEN:334505 semapv:UnspecifiedMatching MONDO:0011837 vitamin K-dependent clotting factors, combined deficiency of, type 2 skos:exactMatch OMIM:607473 vitamin k-dependent clotting factors, combined deficiency of, 2 semapv:UnspecifiedMatching MONDO:0011837 vitamin K-dependent clotting factors, combined deficiency of, type 2 skos:exactMatch UMLS:C1843832 semapv:UnspecifiedMatching MONDO:0011837 vitamin K-dependent clotting factors, combined deficiency of, type 2 skos:exactMatch mesh:C564393 semapv:UnspecifiedMatching MONDO:0011838 Bothnia retinal dystrophy skos:exactMatch DOID:0050683 Bothnia retinal dystrophy semapv:UnspecifiedMatching MONDO:0011838 Bothnia retinal dystrophy skos:exactMatch MEDGEN:334499 semapv:UnspecifiedMatching MONDO:0011838 Bothnia retinal dystrophy skos:exactMatch OMIM:607475 bothnia retinal dystrophy semapv:UnspecifiedMatching MONDO:0011838 Bothnia retinal dystrophy skos:exactMatch Orphanet:85128 Bothnia retinal dystrophy semapv:UnspecifiedMatching MONDO:0011838 Bothnia retinal dystrophy skos:exactMatch SCTID:715647007 semapv:UnspecifiedMatching MONDO:0011838 Bothnia retinal dystrophy skos:exactMatch UMLS:C1843816 semapv:UnspecifiedMatching MONDO:0011838 Bothnia retinal dystrophy skos:exactMatch icd11.foundation:2110390212 Bothnia retinal dystrophy semapv:UnspecifiedMatching MONDO:0011838 Bothnia retinal dystrophy skos:exactMatch mesh:C564392 semapv:UnspecifiedMatching MONDO:0011839 Newfoundland cone-rod dystrophy skos:exactMatch DOID:0111015 Newfoundland cone-rod dystrophy semapv:UnspecifiedMatching MONDO:0011839 Newfoundland cone-rod dystrophy skos:exactMatch MEDGEN:334840 semapv:UnspecifiedMatching MONDO:0011839 Newfoundland cone-rod dystrophy skos:exactMatch OMIM:607476 newfoundland rod-cone dystrophy semapv:UnspecifiedMatching MONDO:0011839 Newfoundland cone-rod dystrophy skos:exactMatch UMLS:C1843815 semapv:UnspecifiedMatching MONDO:0011839 Newfoundland cone-rod dystrophy skos:exactMatch mesh:C564391 semapv:UnspecifiedMatching MONDO:0011840 dilated cardiomyopathy 1M skos:exactMatch DOID:0110449 dilated cardiomyopathy 1M semapv:UnspecifiedMatching MONDO:0011840 dilated cardiomyopathy 1M skos:exactMatch MEDGEN:334498 semapv:UnspecifiedMatching MONDO:0011840 dilated cardiomyopathy 1M skos:exactMatch OMIM:607482 cardiomyopathy, dilated, 1m semapv:UnspecifiedMatching MONDO:0011840 dilated cardiomyopathy 1M skos:exactMatch UMLS:C1843808 semapv:UnspecifiedMatching MONDO:0011840 dilated cardiomyopathy 1M skos:exactMatch mesh:C564390 semapv:UnspecifiedMatching MONDO:0011841 biotin-responsive basal ganglia disease skos:exactMatch DOID:0050659 biotin-responsive basal ganglia disease semapv:UnspecifiedMatching MONDO:0011841 biotin-responsive basal ganglia disease skos:exactMatch MEDGEN:375289 semapv:UnspecifiedMatching MONDO:0011841 biotin-responsive basal ganglia disease skos:exactMatch OMIM:607483 basal ganglia disease, biotin-thiamine responsive semapv:UnspecifiedMatching MONDO:0011841 biotin-responsive basal ganglia disease skos:exactMatch Orphanet:199348 Thiamine-responsive encephalopathy semapv:UnspecifiedMatching MONDO:0011841 biotin-responsive basal ganglia disease skos:exactMatch Orphanet:65284 Biotin-thiamine-responsive basal ganglia disease semapv:UnspecifiedMatching MONDO:0011841 biotin-responsive basal ganglia disease skos:exactMatch SCTID:703522009 semapv:UnspecifiedMatching MONDO:0011841 biotin-responsive basal ganglia disease skos:exactMatch SCTID:723557004 semapv:UnspecifiedMatching MONDO:0011841 biotin-responsive basal ganglia disease skos:exactMatch UMLS:C1843807 semapv:UnspecifiedMatching MONDO:0011841 biotin-responsive basal ganglia disease skos:exactMatch icd11.foundation:1776831202 Biotin-responsive basal ganglia disease semapv:UnspecifiedMatching MONDO:0011841 biotin-responsive basal ganglia disease skos:exactMatch mesh:C537658 semapv:UnspecifiedMatching MONDO:0011842 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions skos:exactMatch DOID:0060672 frontotemporal dementia 2 semapv:UnspecifiedMatching MONDO:0011842 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions skos:exactMatch MEDGEN:375285 semapv:UnspecifiedMatching MONDO:0011842 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions skos:exactMatch OMIM:607485 frontotemporal dementia 2 semapv:UnspecifiedMatching MONDO:0011842 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions skos:exactMatch UMLS:C1843792 semapv:UnspecifiedMatching MONDO:0011843 hypertrophic cardiomyopathy 25 skos:exactMatch DOID:0110328 hypertrophic cardiomyopathy 25 semapv:UnspecifiedMatching MONDO:0011843 hypertrophic cardiomyopathy 25 skos:exactMatch MEDGEN:895360 semapv:UnspecifiedMatching MONDO:0011843 hypertrophic cardiomyopathy 25 skos:exactMatch OMIM:607487 cardiomyopathy, familial hypertrophic, 25 semapv:UnspecifiedMatching MONDO:0011843 hypertrophic cardiomyopathy 25 skos:exactMatch UMLS:C4225408 semapv:UnspecifiedMatching MONDO:0011843 hypertrophic cardiomyopathy 25 skos:exactMatch mesh:C564388 semapv:UnspecifiedMatching MONDO:0011844 myoclonic dystonia 15 skos:exactMatch DOID:0090035 myoclonic dystonia 15 semapv:UnspecifiedMatching MONDO:0011844 myoclonic dystonia 15 skos:exactMatch MEDGEN:334492 semapv:UnspecifiedMatching MONDO:0011844 myoclonic dystonia 15 skos:exactMatch OMIM:607488 dystonia 15, myoclonic semapv:UnspecifiedMatching MONDO:0011844 myoclonic dystonia 15 skos:exactMatch UMLS:C1843786 semapv:UnspecifiedMatching MONDO:0011844 myoclonic dystonia 15 skos:exactMatch mesh:C538002 semapv:UnspecifiedMatching MONDO:0011845 migraine with or without aura, susceptibility to, 3 skos:exactMatch MEDGEN:375283 semapv:UnspecifiedMatching MONDO:0011845 migraine with or without aura, susceptibility to, 3 skos:exactMatch OMIM:607498 migraine with or without aura, susceptibility to, 3 semapv:UnspecifiedMatching MONDO:0011845 migraine with or without aura, susceptibility to, 3 skos:exactMatch UMLS:C1843782 semapv:UnspecifiedMatching MONDO:0011846 bulimia nervosa, susceptibility to, 1 skos:exactMatch MEDGEN:334832 semapv:UnspecifiedMatching MONDO:0011846 bulimia nervosa, susceptibility to, 1 skos:exactMatch OMIM:607499 bulimia nervosa, susceptibility to semapv:UnspecifiedMatching MONDO:0011846 bulimia nervosa, susceptibility to, 1 skos:exactMatch UMLS:C1843776 semapv:UnspecifiedMatching MONDO:0011847 migraine without aura, susceptibility to, 4 skos:exactMatch MEDGEN:336040 semapv:UnspecifiedMatching MONDO:0011847 migraine without aura, susceptibility to, 4 skos:exactMatch OMIM:607501 migraine without aura, susceptibility to, 4 semapv:UnspecifiedMatching MONDO:0011847 migraine without aura, susceptibility to, 4 skos:exactMatch UMLS:C1843773 semapv:UnspecifiedMatching MONDO:0011848 headache associated with sexual activity skos:exactMatch ICD10CM:G44.82 Headache associated with sexual activity semapv:UnspecifiedMatching MONDO:0011848 headache associated with sexual activity skos:exactMatch MEDGEN:95989 semapv:UnspecifiedMatching MONDO:0011848 headache associated with sexual activity skos:exactMatch OMIM:607504 headache associated with sexual activity semapv:UnspecifiedMatching MONDO:0011848 headache associated with sexual activity skos:exactMatch UMLS:C0393754 semapv:UnspecifiedMatching MONDO:0011849 psoriatic arthritis skos:exactMatch DOID:9008 psoriatic arthritis semapv:UnspecifiedMatching MONDO:0011849 psoriatic arthritis skos:exactMatch EFO:0003778 semapv:UnspecifiedMatching MONDO:0011849 psoriatic arthritis skos:exactMatch ICD10CM:L40.5 Arthropathic psoriasis semapv:UnspecifiedMatching MONDO:0011849 psoriatic arthritis skos:exactMatch MEDGEN:2077 semapv:UnspecifiedMatching MONDO:0011849 psoriatic arthritis skos:exactMatch NCIT:C61277 Psoriatic Arthritis semapv:UnspecifiedMatching MONDO:0011849 psoriatic arthritis skos:exactMatch SCTID:156370009 semapv:UnspecifiedMatching MONDO:0011849 psoriatic arthritis skos:exactMatch UMLS:C0003872 semapv:UnspecifiedMatching MONDO:0011849 psoriatic arthritis skos:exactMatch icd11.foundation:868183264 Psoriatic arthritis semapv:UnspecifiedMatching MONDO:0011849 psoriatic arthritis skos:exactMatch mesh:D015535 semapv:UnspecifiedMatching MONDO:0011850 migraine with or without aura, susceptibility to, 5 skos:exactMatch MEDGEN:334831 semapv:UnspecifiedMatching MONDO:0011850 migraine with or without aura, susceptibility to, 5 skos:exactMatch OMIM:607508 migraine with or without aura, susceptibility to, 5 semapv:UnspecifiedMatching MONDO:0011850 migraine with or without aura, susceptibility to, 5 skos:exactMatch UMLS:C1843771 semapv:UnspecifiedMatching MONDO:0011851 migraine with or without aura, susceptibility to, 6 skos:exactMatch MEDGEN:334829 semapv:UnspecifiedMatching MONDO:0011851 migraine with or without aura, susceptibility to, 6 skos:exactMatch OMIM:607516 migraine with or without aura, susceptibility to, 6 semapv:UnspecifiedMatching MONDO:0011851 migraine with or without aura, susceptibility to, 6 skos:exactMatch UMLS:C1843765 semapv:UnspecifiedMatching MONDO:0011851 migraine with or without aura, susceptibility to, 6 skos:exactMatch mesh:C564385 semapv:UnspecifiedMatching MONDO:0011852 nonsyndromic congenital nail disorder 8 skos:exactMatch DOID:0080086 nonsyndromic congenital nail disorder 8 semapv:UnspecifiedMatching MONDO:0011852 nonsyndromic congenital nail disorder 8 skos:exactMatch MEDGEN:375277 semapv:UnspecifiedMatching MONDO:0011852 nonsyndromic congenital nail disorder 8 skos:exactMatch OMIM:607523 nail disorder, nonsyndromic congenital, 8 semapv:UnspecifiedMatching MONDO:0011852 nonsyndromic congenital nail disorder 8 skos:exactMatch UMLS:C1843761 semapv:UnspecifiedMatching MONDO:0011852 nonsyndromic congenital nail disorder 8 skos:exactMatch mesh:C564384 semapv:UnspecifiedMatching MONDO:0011853 Camptosynpolydactyly, complex skos:exactMatch MEDGEN:375276 semapv:UnspecifiedMatching MONDO:0011853 Camptosynpolydactyly, complex skos:exactMatch OMIM:607539 camptosynpolydactyly, complex semapv:UnspecifiedMatching MONDO:0011853 Camptosynpolydactyly, complex skos:exactMatch UMLS:C1843758 semapv:UnspecifiedMatching MONDO:0011853 Camptosynpolydactyly, complex skos:exactMatch mesh:C564383 semapv:UnspecifiedMatching MONDO:0011854 secretory diarrhea, myopathy, and deafness skos:exactMatch MEDGEN:334488 semapv:UnspecifiedMatching MONDO:0011854 secretory diarrhea, myopathy, and deafness skos:exactMatch OMIM:607540 secretory diarrhea, myopathy, and deafness semapv:UnspecifiedMatching MONDO:0011854 secretory diarrhea, myopathy, and deafness skos:exactMatch UMLS:C1843757 semapv:UnspecifiedMatching MONDO:0011854 secretory diarrhea, myopathy, and deafness skos:exactMatch mesh:C564382 semapv:UnspecifiedMatching MONDO:0011855 granular corneal dystrophy type II skos:exactMatch DOID:0060444 granular corneal dystrophy 2 semapv:UnspecifiedMatching MONDO:0011855 granular corneal dystrophy type II skos:exactMatch MEDGEN:220900 semapv:UnspecifiedMatching MONDO:0011855 granular corneal dystrophy type II skos:exactMatch OMIM:607541 corneal dystrophy, avellino type semapv:UnspecifiedMatching MONDO:0011855 granular corneal dystrophy type II skos:exactMatch Orphanet:98963 Granular corneal dystrophy type II semapv:UnspecifiedMatching MONDO:0011855 granular corneal dystrophy type II skos:exactMatch SCTID:397568004 semapv:UnspecifiedMatching MONDO:0011855 granular corneal dystrophy type II skos:exactMatch UMLS:C1275685 semapv:UnspecifiedMatching MONDO:0011855 granular corneal dystrophy type II skos:exactMatch mesh:C535474 semapv:UnspecifiedMatching MONDO:0011856 spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome skos:exactMatch DOID:0112305 spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism semapv:UnspecifiedMatching MONDO:0011856 spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome skos:exactMatch MEDGEN:375263 semapv:UnspecifiedMatching MONDO:0011856 spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome skos:exactMatch OMIM:607543 spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism semapv:UnspecifiedMatching MONDO:0011856 spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome skos:exactMatch Orphanet:168552 Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome semapv:UnspecifiedMatching MONDO:0011856 spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome skos:exactMatch UMLS:C1843706 semapv:UnspecifiedMatching MONDO:0011856 spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome skos:exactMatch mesh:C535791 semapv:UnspecifiedMatching MONDO:0011857 atrial fibrillation, familial, 3 skos:exactMatch MEDGEN:373232 semapv:UnspecifiedMatching MONDO:0011857 atrial fibrillation, familial, 3 skos:exactMatch OMIM:607554 atrial fibrillation, familial, 3 semapv:UnspecifiedMatching MONDO:0011857 atrial fibrillation, familial, 3 skos:exactMatch UMLS:C1837014 semapv:UnspecifiedMatching MONDO:0011857 atrial fibrillation, familial, 3 skos:exactMatch mesh:C563817 semapv:UnspecifiedMatching MONDO:0011858 spastic paraplegia, ataxia, and intellectual disability skos:exactMatch MEDGEN:336010 semapv:UnspecifiedMatching MONDO:0011858 spastic paraplegia, ataxia, and intellectual disability skos:exactMatch OMIM:607565 spastic paraplegia, ataxia, and impaired intellectual development semapv:UnspecifiedMatching MONDO:0011858 spastic paraplegia, ataxia, and intellectual disability skos:exactMatch UMLS:C1843661 semapv:UnspecifiedMatching MONDO:0011858 spastic paraplegia, ataxia, and intellectual disability skos:exactMatch mesh:C564378 semapv:UnspecifiedMatching MONDO:0011860 leprosy, susceptibility to, 2 skos:exactMatch MEDGEN:334455 semapv:UnspecifiedMatching MONDO:0011860 leprosy, susceptibility to, 2 skos:exactMatch OMIM:607572 leprosy, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0011860 leprosy, susceptibility to, 2 skos:exactMatch UMLS:C1843632 semapv:UnspecifiedMatching MONDO:0011861 breath-holding Spells skos:exactMatch MEDGEN:105400 semapv:UnspecifiedMatching MONDO:0011861 breath-holding Spells skos:exactMatch OMIM:607578 breath-holding spells semapv:UnspecifiedMatching MONDO:0011861 breath-holding Spells skos:exactMatch UMLS:C0476287 semapv:UnspecifiedMatching MONDO:0011862 hereditary spastic paraplegia 24 skos:exactMatch DOID:0110775 hereditary spastic paraplegia 24 semapv:UnspecifiedMatching MONDO:0011862 hereditary spastic paraplegia 24 skos:exactMatch MEDGEN:334784 semapv:UnspecifiedMatching MONDO:0011862 hereditary spastic paraplegia 24 skos:exactMatch OMIM:607584 spastic paraplegia 24, autosomal recessive semapv:UnspecifiedMatching MONDO:0011862 hereditary spastic paraplegia 24 skos:exactMatch Orphanet:101004 Autosomal recessive spastic paraplegia type 24 semapv:UnspecifiedMatching MONDO:0011862 hereditary spastic paraplegia 24 skos:exactMatch UMLS:C1843569 semapv:UnspecifiedMatching MONDO:0011862 hereditary spastic paraplegia 24 skos:exactMatch mesh:C564375 semapv:UnspecifiedMatching MONDO:0011863 prostate cancer aggressiveness quantitative trait locus on chromosome 19 skos:exactMatch MEDGEN:334432 semapv:UnspecifiedMatching MONDO:0011863 prostate cancer aggressiveness quantitative trait locus on chromosome 19 skos:exactMatch OMIM:607592 prostate cancer aggressiveness quantitative trait locus on chromosome 19 semapv:UnspecifiedMatching MONDO:0011863 prostate cancer aggressiveness quantitative trait locus on chromosome 19 skos:exactMatch UMLS:C1843533 semapv:UnspecifiedMatching MONDO:0011864 immunodeficiency, common variable, 1 skos:exactMatch DOID:0081144 common variable immunodeficiency 1 semapv:UnspecifiedMatching MONDO:0011864 immunodeficiency, common variable, 1 skos:exactMatch MEDGEN:460728 semapv:UnspecifiedMatching MONDO:0011864 immunodeficiency, common variable, 1 skos:exactMatch OMIM:607594 immunodeficiency, common variable, 1 semapv:UnspecifiedMatching MONDO:0011864 immunodeficiency, common variable, 1 skos:exactMatch Orphanet:695183 Late-onset combined immunodeficiency due to ICOS deficiency semapv:UnspecifiedMatching MONDO:0011864 immunodeficiency, common variable, 1 skos:exactMatch UMLS:C3149378 semapv:UnspecifiedMatching MONDO:0011866 pontocerebellar hypoplasia type 1A skos:exactMatch DOID:0060265 pontocerebellar hypoplasia type 1A semapv:UnspecifiedMatching MONDO:0011866 pontocerebellar hypoplasia type 1A skos:exactMatch MEDGEN:335969 semapv:UnspecifiedMatching MONDO:0011866 pontocerebellar hypoplasia type 1A skos:exactMatch OMIM:607596 pontocerebellar hypoplasia, type 1a semapv:UnspecifiedMatching MONDO:0011866 pontocerebellar hypoplasia type 1A skos:exactMatch UMLS:C1843504 semapv:UnspecifiedMatching MONDO:0011867 microphthalmia with cyst, bilateral facial clefts, and limb anomalies skos:exactMatch MEDGEN:375210 semapv:UnspecifiedMatching MONDO:0011867 microphthalmia with cyst, bilateral facial clefts, and limb anomalies skos:exactMatch OMIM:607597 microphthalmia with cyst, bilateral facial clefts, and limb anomalies semapv:UnspecifiedMatching MONDO:0011867 microphthalmia with cyst, bilateral facial clefts, and limb anomalies skos:exactMatch UMLS:C1843492 semapv:UnspecifiedMatching MONDO:0011867 microphthalmia with cyst, bilateral facial clefts, and limb anomalies skos:exactMatch mesh:C564370 semapv:UnspecifiedMatching MONDO:0011868 lethal congenital contracture syndrome 2 skos:exactMatch DOID:0060560 lethal congenital contracture syndrome 2 semapv:UnspecifiedMatching MONDO:0011868 lethal congenital contracture syndrome 2 skos:exactMatch MEDGEN:334413 semapv:UnspecifiedMatching MONDO:0011868 lethal congenital contracture syndrome 2 skos:exactMatch OMIM:607598 lethal congenital contracture syndrome 2 semapv:UnspecifiedMatching MONDO:0011868 lethal congenital contracture syndrome 2 skos:exactMatch Orphanet:137776 Lethal congenital contracture syndrome type 2 semapv:UnspecifiedMatching MONDO:0011868 lethal congenital contracture syndrome 2 skos:exactMatch SCTID:715419004 semapv:UnspecifiedMatching MONDO:0011868 lethal congenital contracture syndrome 2 skos:exactMatch UMLS:C1843478 semapv:UnspecifiedMatching MONDO:0011868 lethal congenital contracture syndrome 2 skos:exactMatch mesh:C564369 semapv:UnspecifiedMatching MONDO:0011869 epidermolysis bullosa simplex superficialis skos:exactMatch MEDGEN:334412 semapv:UnspecifiedMatching MONDO:0011869 epidermolysis bullosa simplex superficialis skos:exactMatch OMIM:607600 epidermolysis bullosa simplex superficialis semapv:UnspecifiedMatching MONDO:0011869 epidermolysis bullosa simplex superficialis skos:exactMatch UMLS:C1843477 semapv:UnspecifiedMatching MONDO:0011869 epidermolysis bullosa simplex superficialis skos:exactMatch icd11.foundation:1738578678 Epidermolysis bullosa simplex superficialis semapv:UnspecifiedMatching MONDO:0011869 epidermolysis bullosa simplex superficialis skos:exactMatch mesh:C564368 semapv:UnspecifiedMatching MONDO:0011870 annular epidermolytic ichthyosis skos:exactMatch MEDGEN:334410 semapv:UnspecifiedMatching MONDO:0011870 annular epidermolytic ichthyosis skos:exactMatch OMIMPS:607602 Ichthyosis, annular epidermolytic semapv:UnspecifiedMatching MONDO:0011870 annular epidermolytic ichthyosis skos:exactMatch Orphanet:281139 Annular epidermolytic ichthyosis semapv:UnspecifiedMatching MONDO:0011870 annular epidermolytic ichthyosis skos:exactMatch SCTID:718631006 semapv:UnspecifiedMatching MONDO:0011870 annular epidermolytic ichthyosis skos:exactMatch UMLS:C1843463 semapv:UnspecifiedMatching MONDO:0011870 annular epidermolytic ichthyosis skos:exactMatch icd11.foundation:280058464 Annular epidermolytic ichthyosis semapv:UnspecifiedMatching MONDO:0011870 annular epidermolytic ichthyosis skos:exactMatch mesh:C564367 semapv:UnspecifiedMatching MONDO:0011871 Niemann-Pick disease type B skos:exactMatch DOID:0070112 Niemann-Pick disease type B semapv:UnspecifiedMatching MONDO:0011871 Niemann-Pick disease type B skos:exactMatch ICD10CM:E75.241 Niemann-Pick disease type B semapv:UnspecifiedMatching MONDO:0011871 Niemann-Pick disease type B skos:exactMatch MEDGEN:78651 semapv:UnspecifiedMatching MONDO:0011871 Niemann-Pick disease type B skos:exactMatch NCIT:C126866 Niemann-Pick Disease, Type B semapv:UnspecifiedMatching MONDO:0011871 Niemann-Pick disease type B skos:exactMatch OMIM:607616 niemann-pick disease, type B semapv:UnspecifiedMatching MONDO:0011871 Niemann-Pick disease type B skos:exactMatch Orphanet:77293 Chronic visceral acid sphingomyelinase deficiency semapv:UnspecifiedMatching MONDO:0011871 Niemann-Pick disease type B skos:exactMatch SCTID:39390005 semapv:UnspecifiedMatching MONDO:0011871 Niemann-Pick disease type B skos:exactMatch UMLS:C0268243 semapv:UnspecifiedMatching MONDO:0011871 Niemann-Pick disease type B skos:exactMatch icd11.foundation:327269975 Niemann-Pick disease type B semapv:UnspecifiedMatching MONDO:0011871 Niemann-Pick disease type B skos:exactMatch mesh:D052537 semapv:UnspecifiedMatching MONDO:0011872 Griscelli syndrome type 2 skos:exactMatch DOID:0060833 Griscelli syndrome type 2 semapv:UnspecifiedMatching MONDO:0011872 Griscelli syndrome type 2 skos:exactMatch MEDGEN:357030 semapv:UnspecifiedMatching MONDO:0011872 Griscelli syndrome type 2 skos:exactMatch NCIT:C111814 Griscelli Syndrome Type 2 semapv:UnspecifiedMatching MONDO:0011872 Griscelli syndrome type 2 skos:exactMatch OMIM:607624 griscelli syndrome, type 2 semapv:UnspecifiedMatching MONDO:0011872 Griscelli syndrome type 2 skos:exactMatch Orphanet:79477 Griscelli syndrome type 2 semapv:UnspecifiedMatching MONDO:0011872 Griscelli syndrome type 2 skos:exactMatch UMLS:C1868679 semapv:UnspecifiedMatching MONDO:0011872 Griscelli syndrome type 2 skos:exactMatch icd11.foundation:1836541365 Griscelli syndrome type 2 semapv:UnspecifiedMatching MONDO:0011872 Griscelli syndrome type 2 skos:exactMatch mesh:C537302 semapv:UnspecifiedMatching MONDO:0011873 Niemann-Pick disease, type C2 skos:exactMatch DOID:0070114 Niemann-Pick disease type C2 semapv:UnspecifiedMatching MONDO:0011873 Niemann-Pick disease, type C2 skos:exactMatch MEDGEN:335942 semapv:UnspecifiedMatching MONDO:0011873 Niemann-Pick disease, type C2 skos:exactMatch NCIT:C126865 Niemann-Pick Disease, Type C2 semapv:UnspecifiedMatching MONDO:0011873 Niemann-Pick disease, type C2 skos:exactMatch OMIM:607625 niemann-pick disease, type c2 semapv:UnspecifiedMatching MONDO:0011873 Niemann-Pick disease, type C2 skos:exactMatch UMLS:C1843366 semapv:UnspecifiedMatching MONDO:0011873 Niemann-Pick disease, type C2 skos:exactMatch mesh:C536119 semapv:UnspecifiedMatching MONDO:0011874 neonatal ichthyosis-sclerosing cholangitis syndrome skos:exactMatch MEDGEN:334382 semapv:UnspecifiedMatching MONDO:0011874 neonatal ichthyosis-sclerosing cholangitis syndrome skos:exactMatch OMIM:607626 ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis semapv:UnspecifiedMatching MONDO:0011874 neonatal ichthyosis-sclerosing cholangitis syndrome skos:exactMatch Orphanet:59303 Neonatal ichthyosis-sclerosing cholangitis syndrome semapv:UnspecifiedMatching MONDO:0011874 neonatal ichthyosis-sclerosing cholangitis syndrome skos:exactMatch SCTID:724278007 semapv:UnspecifiedMatching MONDO:0011874 neonatal ichthyosis-sclerosing cholangitis syndrome skos:exactMatch UMLS:C1843355 semapv:UnspecifiedMatching MONDO:0011874 neonatal ichthyosis-sclerosing cholangitis syndrome skos:exactMatch mesh:C564365 semapv:UnspecifiedMatching MONDO:0011875 epilepsy, idiopathic generalized, susceptibility to, 11 skos:exactMatch MEDGEN:416407 semapv:UnspecifiedMatching MONDO:0011875 epilepsy, idiopathic generalized, susceptibility to, 11 skos:exactMatch OMIM:607628 epilepsy, idiopathic generalized, susceptibility to, 11 semapv:UnspecifiedMatching MONDO:0011875 epilepsy, idiopathic generalized, susceptibility to, 11 skos:exactMatch UMLS:C2750893 semapv:UnspecifiedMatching MONDO:0011877 autosomal dominant osteopetrosis 1 skos:exactMatch DOID:0110937 autosomal dominant osteopetrosis 1 semapv:UnspecifiedMatching MONDO:0011877 autosomal dominant osteopetrosis 1 skos:exactMatch MEDGEN:335932 semapv:UnspecifiedMatching MONDO:0011877 autosomal dominant osteopetrosis 1 skos:exactMatch OMIM:607634 osteopetrosis, autosomal dominant 1 semapv:UnspecifiedMatching MONDO:0011877 autosomal dominant osteopetrosis 1 skos:exactMatch Orphanet:2783 Autosomal dominant osteopetrosis type 1 semapv:UnspecifiedMatching MONDO:0011877 autosomal dominant osteopetrosis 1 skos:exactMatch UMLS:C1843330 semapv:UnspecifiedMatching MONDO:0011877 autosomal dominant osteopetrosis 1 skos:exactMatch mesh:C536056 semapv:UnspecifiedMatching MONDO:0011879 neuronopathy, distal hereditary motor, type 7B skos:exactMatch DOID:0111202 autosomal dominant distal hereditary motor neuronopathy 14 semapv:UnspecifiedMatching MONDO:0011879 neuronopathy, distal hereditary motor, type 7B skos:exactMatch MEDGEN:375157 semapv:UnspecifiedMatching MONDO:0011879 neuronopathy, distal hereditary motor, type 7B skos:exactMatch OMIM:607641 neuronopathy, distal hereditary motor, autosomal dominant 14 semapv:UnspecifiedMatching MONDO:0011879 neuronopathy, distal hereditary motor, type 7B skos:exactMatch UMLS:C1843315 semapv:UnspecifiedMatching MONDO:0011879 neuronopathy, distal hereditary motor, type 7B skos:exactMatch mesh:C564362 semapv:UnspecifiedMatching MONDO:0011880 candidiasis, familial, 3 skos:exactMatch MEDGEN:335927 semapv:UnspecifiedMatching MONDO:0011880 candidiasis, familial, 3 skos:exactMatch OMIM:607644 candidiasis, familial, 3 semapv:UnspecifiedMatching MONDO:0011880 candidiasis, familial, 3 skos:exactMatch UMLS:C1843306 semapv:UnspecifiedMatching MONDO:0011880 candidiasis, familial, 3 skos:exactMatch mesh:C564361 semapv:UnspecifiedMatching MONDO:0011881 keratosis palmoplantaris striata 3 skos:exactMatch DOID:0081110 keratosis palmoplantaris striata 3 semapv:UnspecifiedMatching MONDO:0011881 keratosis palmoplantaris striata 3 skos:exactMatch MEDGEN:418996 semapv:UnspecifiedMatching MONDO:0011881 keratosis palmoplantaris striata 3 skos:exactMatch OMIM:607654 keratosis palmoplantaris striata 3 semapv:UnspecifiedMatching MONDO:0011881 keratosis palmoplantaris striata 3 skos:exactMatch UMLS:C2931123 semapv:UnspecifiedMatching MONDO:0011881 keratosis palmoplantaris striata 3 skos:exactMatch mesh:C536163 semapv:UnspecifiedMatching MONDO:0011882 skin fragility-woolly hair-palmoplantar keratoderma syndrome skos:exactMatch MEDGEN:1659950 semapv:UnspecifiedMatching MONDO:0011882 skin fragility-woolly hair-palmoplantar keratoderma syndrome skos:exactMatch Orphanet:293165 Skin fragility-woolly hair-palmoplantar keratoderma syndrome semapv:UnspecifiedMatching MONDO:0011882 skin fragility-woolly hair-palmoplantar keratoderma syndrome skos:exactMatch UMLS:C4755263 semapv:UnspecifiedMatching MONDO:0011882 skin fragility-woolly hair-palmoplantar keratoderma syndrome skos:exactMatch mesh:C564359 semapv:UnspecifiedMatching MONDO:0011883 Curly hair - acral keratoderma - caries syndrome skos:exactMatch MEDGEN:335923 semapv:UnspecifiedMatching MONDO:0011883 Curly hair - acral keratoderma - caries syndrome skos:exactMatch OMIM:607656 curly hair-acral keratoderma-caries syndrome semapv:UnspecifiedMatching MONDO:0011883 Curly hair - acral keratoderma - caries syndrome skos:exactMatch Orphanet:307766 Curly hair-acral keratoderma-caries syndrome semapv:UnspecifiedMatching MONDO:0011883 Curly hair - acral keratoderma - caries syndrome skos:exactMatch UMLS:C1843291 semapv:UnspecifiedMatching MONDO:0011883 Curly hair - acral keratoderma - caries syndrome skos:exactMatch mesh:C536220 semapv:UnspecifiedMatching MONDO:0011884 hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome skos:exactMatch MEDGEN:375146 semapv:UnspecifiedMatching MONDO:0011884 hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome skos:exactMatch OMIM:607658 hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome semapv:UnspecifiedMatching MONDO:0011884 hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome skos:exactMatch Orphanet:307936 Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome semapv:UnspecifiedMatching MONDO:0011884 hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome skos:exactMatch SCTID:763658004 semapv:UnspecifiedMatching MONDO:0011884 hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome skos:exactMatch UMLS:C1843285 semapv:UnspecifiedMatching MONDO:0011884 hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome skos:exactMatch mesh:C564357 semapv:UnspecifiedMatching MONDO:0011885 tubulointerstitial nephritis and uveitis syndrome skos:exactMatch MEDGEN:334715 semapv:UnspecifiedMatching MONDO:0011885 tubulointerstitial nephritis and uveitis syndrome skos:exactMatch NCIT:C123021 Tubulointerstitial Nephritis and Uveitis semapv:UnspecifiedMatching MONDO:0011885 tubulointerstitial nephritis and uveitis syndrome skos:exactMatch OMIM:607665 tubulointerstitial nephritis with uveitis semapv:UnspecifiedMatching MONDO:0011885 tubulointerstitial nephritis and uveitis syndrome skos:exactMatch Orphanet:91500 Tubulointerstitial nephritis and uveitis syndrome semapv:UnspecifiedMatching MONDO:0011885 tubulointerstitial nephritis and uveitis syndrome skos:exactMatch UMLS:C1843273 semapv:UnspecifiedMatching MONDO:0011885 tubulointerstitial nephritis and uveitis syndrome skos:exactMatch mesh:C536922 semapv:UnspecifiedMatching MONDO:0011886 torsion dystonia 13 skos:exactMatch DOID:0090037 torsion dystonia 13 semapv:UnspecifiedMatching MONDO:0011886 torsion dystonia 13 skos:exactMatch MEDGEN:335918 semapv:UnspecifiedMatching MONDO:0011886 torsion dystonia 13 skos:exactMatch OMIM:607671 dystonia 13, torsion, autosomal dominant semapv:UnspecifiedMatching MONDO:0011886 torsion dystonia 13 skos:exactMatch Orphanet:98807 Primary dystonia, DYT13 type semapv:UnspecifiedMatching MONDO:0011886 torsion dystonia 13 skos:exactMatch SCTID:719278006 semapv:UnspecifiedMatching MONDO:0011886 torsion dystonia 13 skos:exactMatch UMLS:C1843264 semapv:UnspecifiedMatching MONDO:0011886 torsion dystonia 13 skos:exactMatch mesh:C564354 semapv:UnspecifiedMatching MONDO:0011887 cataract, congenital, with mental impairment and dentate gyrus atrophy skos:exactMatch MEDGEN:334365 semapv:UnspecifiedMatching MONDO:0011887 cataract, congenital, with mental impairment and dentate gyrus atrophy skos:exactMatch OMIM:607674 cataract, congenital, with mental impairment and dentate gyrus atrophy semapv:UnspecifiedMatching MONDO:0011887 cataract, congenital, with mental impairment and dentate gyrus atrophy skos:exactMatch UMLS:C1843257 semapv:UnspecifiedMatching MONDO:0011887 cataract, congenital, with mental impairment and dentate gyrus atrophy skos:exactMatch mesh:C564353 semapv:UnspecifiedMatching MONDO:0011888 immunodeficiency 67 skos:exactMatch MEDGEN:375137 semapv:UnspecifiedMatching MONDO:0011888 immunodeficiency 67 skos:exactMatch OMIM:607676 immunodeficiency 67 semapv:UnspecifiedMatching MONDO:0011888 immunodeficiency 67 skos:exactMatch Orphanet:70592 Transient predisposition to invasive pyogenic bacterial infection semapv:UnspecifiedMatching MONDO:0011888 immunodeficiency 67 skos:exactMatch UMLS:C1843256 semapv:UnspecifiedMatching MONDO:0011888 immunodeficiency 67 skos:exactMatch mesh:C564352 semapv:UnspecifiedMatching MONDO:0011889 Charcot-Marie-Tooth disease type 2I skos:exactMatch DOID:0110158 Charcot-Marie-Tooth disease type 2I semapv:UnspecifiedMatching MONDO:0011889 Charcot-Marie-Tooth disease type 2I skos:exactMatch MEDGEN:854756 semapv:UnspecifiedMatching MONDO:0011889 Charcot-Marie-Tooth disease type 2I skos:exactMatch OMIM:607677 charcot-marie-tooth disease, axonal, type 2i semapv:UnspecifiedMatching MONDO:0011889 Charcot-Marie-Tooth disease type 2I skos:exactMatch Orphanet:99942 Autosomal dominant Charcot-Marie-Tooth disease type 2I semapv:UnspecifiedMatching MONDO:0011889 Charcot-Marie-Tooth disease type 2I skos:exactMatch SCTID:717013009 semapv:UnspecifiedMatching MONDO:0011889 Charcot-Marie-Tooth disease type 2I skos:exactMatch UMLS:C3888087 semapv:UnspecifiedMatching MONDO:0011889 Charcot-Marie-Tooth disease type 2I skos:exactMatch icd11.foundation:1858507973 Charcot-Marie-Tooth disease type 2I semapv:UnspecifiedMatching MONDO:0011890 Charcot-Marie-Tooth disease type 1D skos:exactMatch DOID:0110150 Charcot-Marie-Tooth disease type 1D semapv:UnspecifiedMatching MONDO:0011890 Charcot-Marie-Tooth disease type 1D skos:exactMatch MEDGEN:334709 semapv:UnspecifiedMatching MONDO:0011890 Charcot-Marie-Tooth disease type 1D skos:exactMatch OMIM:607678 charcot-marie-tooth disease, demyelinating, type 1d semapv:UnspecifiedMatching MONDO:0011890 Charcot-Marie-Tooth disease type 1D skos:exactMatch Orphanet:101084 Charcot-Marie-Tooth disease type 1D semapv:UnspecifiedMatching MONDO:0011890 Charcot-Marie-Tooth disease type 1D skos:exactMatch SCTID:719979008 semapv:UnspecifiedMatching MONDO:0011890 Charcot-Marie-Tooth disease type 1D skos:exactMatch UMLS:C1843247 semapv:UnspecifiedMatching MONDO:0011890 Charcot-Marie-Tooth disease type 1D skos:exactMatch icd11.foundation:2062905967 Charcot-Marie-Tooth disease type 1D semapv:UnspecifiedMatching MONDO:0011890 Charcot-Marie-Tooth disease type 1D skos:exactMatch mesh:C537985 semapv:UnspecifiedMatching MONDO:0011891 febrile seizures, familial, 8 skos:exactMatch DOID:0111298 familial febrile seizures 8 semapv:UnspecifiedMatching MONDO:0011891 febrile seizures, familial, 8 skos:exactMatch MEDGEN:370755 semapv:UnspecifiedMatching MONDO:0011891 febrile seizures, familial, 8 skos:exactMatch OMIM:607681 febrile seizures, familial, 8 semapv:UnspecifiedMatching MONDO:0011891 febrile seizures, familial, 8 skos:exactMatch UMLS:C1969810 semapv:UnspecifiedMatching MONDO:0011891 febrile seizures, familial, 8 skos:exactMatch mesh:C565811 semapv:UnspecifiedMatching MONDO:0011892 epilepsy, idiopathic generalized, susceptibility to, 9 skos:exactMatch MEDGEN:413424 semapv:UnspecifiedMatching MONDO:0011892 epilepsy, idiopathic generalized, susceptibility to, 9 skos:exactMatch OMIM:607682 epilepsy, idiopathic generalized, susceptibility to, 9 semapv:UnspecifiedMatching MONDO:0011892 epilepsy, idiopathic generalized, susceptibility to, 9 skos:exactMatch UMLS:C2750887 semapv:UnspecifiedMatching MONDO:0011893 obsolete autosomal dominant nonsyndromic hearing loss 52 skos:exactMatch DOID:0110578 obsolete autosomal dominant nonsyndromic deafness 52 semapv:UnspecifiedMatching MONDO:0011893 obsolete autosomal dominant nonsyndromic hearing loss 52 skos:exactMatch OMIM:607683 semapv:UnspecifiedMatching MONDO:0011893 obsolete autosomal dominant nonsyndromic hearing loss 52 skos:exactMatch mesh:C564348 semapv:UnspecifiedMatching MONDO:0011894 Charcot-Marie-Tooth disease type 2E skos:exactMatch DOID:0110165 Charcot-Marie-Tooth disease type 2E semapv:UnspecifiedMatching MONDO:0011894 Charcot-Marie-Tooth disease type 2E skos:exactMatch MEDGEN:375127 semapv:UnspecifiedMatching MONDO:0011894 Charcot-Marie-Tooth disease type 2E skos:exactMatch NCIT:C134953 Charcot-Marie-Tooth Disease Type 2E semapv:UnspecifiedMatching MONDO:0011894 Charcot-Marie-Tooth disease type 2E skos:exactMatch OMIM:607684 charcot-marie-tooth disease, axonal, type 2e semapv:UnspecifiedMatching MONDO:0011894 Charcot-Marie-Tooth disease type 2E skos:exactMatch Orphanet:99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E semapv:UnspecifiedMatching MONDO:0011894 Charcot-Marie-Tooth disease type 2E skos:exactMatch SCTID:717012004 semapv:UnspecifiedMatching MONDO:0011894 Charcot-Marie-Tooth disease type 2E skos:exactMatch UMLS:C1843225 semapv:UnspecifiedMatching MONDO:0011894 Charcot-Marie-Tooth disease type 2E skos:exactMatch icd11.foundation:1476045360 Charcot-Marie-Tooth disease type 2E semapv:UnspecifiedMatching MONDO:0011894 Charcot-Marie-Tooth disease type 2E skos:exactMatch mesh:C537994 semapv:UnspecifiedMatching MONDO:0011895 idiopathic hypereosinophilic syndrome skos:exactMatch ICD10CM:D72.110 Idiopathic hypereosinophilic syndrome [IHES] semapv:UnspecifiedMatching MONDO:0011895 idiopathic hypereosinophilic syndrome skos:exactMatch MEDGEN:61525 semapv:UnspecifiedMatching MONDO:0011895 idiopathic hypereosinophilic syndrome skos:exactMatch OMIM:607685 hypereosinophilic syndrome, idiopathic semapv:UnspecifiedMatching MONDO:0011895 idiopathic hypereosinophilic syndrome skos:exactMatch Orphanet:3260 Idiopathic hypereosinophilic syndrome semapv:UnspecifiedMatching MONDO:0011895 idiopathic hypereosinophilic syndrome skos:exactMatch SCTID:423294001 semapv:UnspecifiedMatching MONDO:0011895 idiopathic hypereosinophilic syndrome skos:exactMatch UMLS:C0206141 semapv:UnspecifiedMatching MONDO:0011895 idiopathic hypereosinophilic syndrome skos:exactMatch icd11.foundation:703101846 Idiopathic hypereosinophilic syndrome semapv:UnspecifiedMatching MONDO:0011896 Parkinson disease 11, autosomal dominant, susceptibility to skos:exactMatch MEDGEN:896658 semapv:UnspecifiedMatching MONDO:0011896 Parkinson disease 11, autosomal dominant, susceptibility to skos:exactMatch OMIM:607688 parkinson disease 11, autosomal dominant, susceptibility to semapv:UnspecifiedMatching MONDO:0011896 Parkinson disease 11, autosomal dominant, susceptibility to skos:exactMatch UMLS:C4083045 semapv:UnspecifiedMatching MONDO:0011896 Parkinson disease 11, autosomal dominant, susceptibility to skos:exactMatch mesh:C564345 semapv:UnspecifiedMatching MONDO:0011897 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism skos:exactMatch DOID:0060794 hypomyelinating leukodystrophy 7 semapv:UnspecifiedMatching MONDO:0011897 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism skos:exactMatch OMIM:607694 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism semapv:UnspecifiedMatching MONDO:0011897 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism skos:exactMatch SCTID:721846006 semapv:UnspecifiedMatching MONDO:0011898 Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive skos:exactMatch DOID:0051028 autosomal recessive axonal Charcot-Marie-Tooth disease with vocal cord paresis semapv:UnspecifiedMatching MONDO:0011898 Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive skos:exactMatch MEDGEN:375113 semapv:UnspecifiedMatching MONDO:0011898 Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive skos:exactMatch OMIM:607706 charcot-marie-tooth disease, axonal, with vocal cord paresis, autosomal recessive semapv:UnspecifiedMatching MONDO:0011898 Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive skos:exactMatch UMLS:C1843183 semapv:UnspecifiedMatching MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair skos:exactMatch DOID:0080691 Noonan syndrome-like disorder with loose anagen hair semapv:UnspecifiedMatching MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair skos:exactMatch MEDGEN:334697 semapv:UnspecifiedMatching MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair skos:exactMatch NCIT:C178129 Noonan Syndrome-Like Disorder with Loose Anagen Hair semapv:UnspecifiedMatching MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair skos:exactMatch OMIMPS:607721 Noonan syndrome-like disorder with loose anagen hair semapv:UnspecifiedMatching MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair skos:exactMatch Orphanet:2701 Noonan syndrome-like disorder with loose anagen hair semapv:UnspecifiedMatching MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair skos:exactMatch SCTID:723444009 semapv:UnspecifiedMatching MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair skos:exactMatch UMLS:C1843181 semapv:UnspecifiedMatching MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair skos:exactMatch mesh:C564342 semapv:UnspecifiedMatching MONDO:0011900 porokeratosis 4, disseminated superficial actinic type skos:exactMatch MEDGEN:335900 semapv:UnspecifiedMatching MONDO:0011900 porokeratosis 4, disseminated superficial actinic type skos:exactMatch OMIM:607728 porokeratosis 4, disseminated superficial actinic type semapv:UnspecifiedMatching MONDO:0011900 porokeratosis 4, disseminated superficial actinic type skos:exactMatch UMLS:C1843180 semapv:UnspecifiedMatching MONDO:0011901 Charcot-Marie-Tooth disease axonal type 2H skos:exactMatch DOID:0110166 Charcot-Marie-Tooth disease axonal type 2H semapv:UnspecifiedMatching MONDO:0011901 Charcot-Marie-Tooth disease axonal type 2H skos:exactMatch MEDGEN:334344 semapv:UnspecifiedMatching MONDO:0011901 Charcot-Marie-Tooth disease axonal type 2H skos:exactMatch OMIM:607731 charcot-marie-tooth disease, axonal, type 2h semapv:UnspecifiedMatching MONDO:0011901 Charcot-Marie-Tooth disease axonal type 2H skos:exactMatch Orphanet:101102 Charcot-Marie-Tooth disease type 2H semapv:UnspecifiedMatching MONDO:0011901 Charcot-Marie-Tooth disease axonal type 2H skos:exactMatch SCTID:720637005 semapv:UnspecifiedMatching MONDO:0011901 Charcot-Marie-Tooth disease axonal type 2H skos:exactMatch UMLS:C1843173 semapv:UnspecifiedMatching MONDO:0011901 Charcot-Marie-Tooth disease axonal type 2H skos:exactMatch mesh:C535415 semapv:UnspecifiedMatching MONDO:0011902 Charcot-Marie-Tooth disease type 1F skos:exactMatch DOID:0110149 Charcot-Marie-Tooth disease type 1F semapv:UnspecifiedMatching MONDO:0011902 Charcot-Marie-Tooth disease type 1F skos:exactMatch MEDGEN:334337 semapv:UnspecifiedMatching MONDO:0011902 Charcot-Marie-Tooth disease type 1F skos:exactMatch OMIM:607734 charcot-marie-tooth disease, demyelinating, type 1f semapv:UnspecifiedMatching MONDO:0011902 Charcot-Marie-Tooth disease type 1F skos:exactMatch Orphanet:101085 Charcot-Marie-Tooth disease type 1F semapv:UnspecifiedMatching MONDO:0011902 Charcot-Marie-Tooth disease type 1F skos:exactMatch SCTID:719980006 semapv:UnspecifiedMatching MONDO:0011902 Charcot-Marie-Tooth disease type 1F skos:exactMatch UMLS:C1843164 semapv:UnspecifiedMatching MONDO:0011902 Charcot-Marie-Tooth disease type 1F skos:exactMatch icd11.foundation:1160290076 Charcot-Marie-Tooth disease type 1F semapv:UnspecifiedMatching MONDO:0011902 Charcot-Marie-Tooth disease type 1F skos:exactMatch mesh:C537987 semapv:UnspecifiedMatching MONDO:0011903 Charcot-Marie-Tooth disease type 2J skos:exactMatch DOID:0110157 Charcot-Marie-Tooth disease type 2J semapv:UnspecifiedMatching MONDO:0011903 Charcot-Marie-Tooth disease type 2J skos:exactMatch MEDGEN:375107 semapv:UnspecifiedMatching MONDO:0011903 Charcot-Marie-Tooth disease type 2J skos:exactMatch OMIM:607736 charcot-marie-tooth disease, axonal, type 2j semapv:UnspecifiedMatching MONDO:0011903 Charcot-Marie-Tooth disease type 2J skos:exactMatch Orphanet:99943 Autosomal dominant Charcot-Marie-Tooth disease type 2J semapv:UnspecifiedMatching MONDO:0011903 Charcot-Marie-Tooth disease type 2J skos:exactMatch SCTID:717014003 semapv:UnspecifiedMatching MONDO:0011903 Charcot-Marie-Tooth disease type 2J skos:exactMatch UMLS:C1843153 semapv:UnspecifiedMatching MONDO:0011903 Charcot-Marie-Tooth disease type 2J skos:exactMatch icd11.foundation:1498789307 Charcot-Marie-Tooth disease type 2J semapv:UnspecifiedMatching MONDO:0011903 Charcot-Marie-Tooth disease type 2J skos:exactMatch mesh:C535417 semapv:UnspecifiedMatching MONDO:0011904 seizures, benign familial infantile, 3 skos:exactMatch DOID:0081116 benign familial infantile seizures 3 semapv:UnspecifiedMatching MONDO:0011904 seizures, benign familial infantile, 3 skos:exactMatch MEDGEN:375105 semapv:UnspecifiedMatching MONDO:0011904 seizures, benign familial infantile, 3 skos:exactMatch OMIM:607745 seizures, benign familial infantile, 3 semapv:UnspecifiedMatching MONDO:0011904 seizures, benign familial infantile, 3 skos:exactMatch Orphanet:140927 Self-limited neonatal-infantile epilepsy semapv:UnspecifiedMatching MONDO:0011904 seizures, benign familial infantile, 3 skos:exactMatch UMLS:C1843140 semapv:UnspecifiedMatching MONDO:0011906 congenital bile acid synthesis defect 1 skos:exactMatch DOID:0111071 congenital bile acid synthesis defect 1 semapv:UnspecifiedMatching MONDO:0011906 congenital bile acid synthesis defect 1 skos:exactMatch MEDGEN:335883 semapv:UnspecifiedMatching MONDO:0011906 congenital bile acid synthesis defect 1 skos:exactMatch OMIM:607765 bile acid synthesis defect, congenital, 1 semapv:UnspecifiedMatching MONDO:0011906 congenital bile acid synthesis defect 1 skos:exactMatch Orphanet:79301 Congenital bile acid synthesis defect type 1 semapv:UnspecifiedMatching MONDO:0011906 congenital bile acid synthesis defect 1 skos:exactMatch UMLS:C1843116 semapv:UnspecifiedMatching MONDO:0011906 congenital bile acid synthesis defect 1 skos:exactMatch mesh:C535442 semapv:UnspecifiedMatching MONDO:0011907 acrocapitofemoral dysplasia skos:exactMatch DOID:0050604 acrocapitofemoral dysplasia semapv:UnspecifiedMatching MONDO:0011907 acrocapitofemoral dysplasia skos:exactMatch MEDGEN:334681 semapv:UnspecifiedMatching MONDO:0011907 acrocapitofemoral dysplasia skos:exactMatch OMIM:607778 acrocapitofemoral dysplasia semapv:UnspecifiedMatching MONDO:0011907 acrocapitofemoral dysplasia skos:exactMatch Orphanet:63446 Acrocapitofemoral dysplasia semapv:UnspecifiedMatching MONDO:0011907 acrocapitofemoral dysplasia skos:exactMatch SCTID:720416007 semapv:UnspecifiedMatching MONDO:0011907 acrocapitofemoral dysplasia skos:exactMatch UMLS:C1843096 semapv:UnspecifiedMatching MONDO:0011907 acrocapitofemoral dysplasia skos:exactMatch icd11.foundation:687396416 Acrocapitofemoral dysplasia semapv:UnspecifiedMatching MONDO:0011907 acrocapitofemoral dysplasia skos:exactMatch mesh:C564334 semapv:UnspecifiedMatching MONDO:0011908 juvenile myelomonocytic leukemia skos:exactMatch DOID:0050458 juvenile myelomonocytic leukemia semapv:UnspecifiedMatching MONDO:0011908 juvenile myelomonocytic leukemia skos:exactMatch EFO:1000309 semapv:UnspecifiedMatching MONDO:0011908 juvenile myelomonocytic leukemia skos:exactMatch ICD10CM:C93.3 Juvenile myelomonocytic leukemia semapv:UnspecifiedMatching MONDO:0011908 juvenile myelomonocytic leukemia skos:exactMatch MEDGEN:138109 semapv:UnspecifiedMatching MONDO:0011908 juvenile myelomonocytic leukemia skos:exactMatch NCIT:C9233 Juvenile Myelomonocytic Leukemia semapv:UnspecifiedMatching MONDO:0011908 juvenile myelomonocytic leukemia skos:exactMatch OMIM:607785 juvenile myelomonocytic leukemia semapv:UnspecifiedMatching MONDO:0011908 juvenile myelomonocytic leukemia skos:exactMatch Orphanet:86834 Juvenile myelomonocytic leukemia semapv:UnspecifiedMatching MONDO:0011908 juvenile myelomonocytic leukemia skos:exactMatch SCTID:445227008 semapv:UnspecifiedMatching MONDO:0011908 juvenile myelomonocytic leukemia skos:exactMatch UMLS:C0349639 semapv:UnspecifiedMatching MONDO:0011908 juvenile myelomonocytic leukemia skos:exactMatch icd11.foundation:1786015803 Juvenile myelomonocytic leukaemia semapv:UnspecifiedMatching MONDO:0011908 juvenile myelomonocytic leukemia skos:exactMatch mesh:D054429 semapv:UnspecifiedMatching MONDO:0011909 Charcot-Marie-Tooth disease dominant intermediate D skos:exactMatch DOID:0110200 Charcot-Marie-Tooth disease dominant intermediate D semapv:UnspecifiedMatching MONDO:0011909 Charcot-Marie-Tooth disease dominant intermediate D skos:exactMatch MEDGEN:334318 semapv:UnspecifiedMatching MONDO:0011909 Charcot-Marie-Tooth disease dominant intermediate D skos:exactMatch OMIM:607791 charcot-marie-tooth disease, dominant intermediate d semapv:UnspecifiedMatching MONDO:0011909 Charcot-Marie-Tooth disease dominant intermediate D skos:exactMatch Orphanet:100046 Autosomal dominant intermediate Charcot-Marie-Tooth disease type D semapv:UnspecifiedMatching MONDO:0011909 Charcot-Marie-Tooth disease dominant intermediate D skos:exactMatch SCTID:765747004 semapv:UnspecifiedMatching MONDO:0011909 Charcot-Marie-Tooth disease dominant intermediate D skos:exactMatch UMLS:C1843075 semapv:UnspecifiedMatching MONDO:0011909 Charcot-Marie-Tooth disease dominant intermediate D skos:exactMatch mesh:C564333 semapv:UnspecifiedMatching MONDO:0011910 obsolete autosomal dominant limb-girdle muscular dystrophy type 1C skos:exactMatch DOID:0110302 obsolete autosomal dominant limb-girdle muscular dystrophy type 1C semapv:UnspecifiedMatching MONDO:0011910 obsolete autosomal dominant limb-girdle muscular dystrophy type 1C skos:exactMatch NCIT:C148318 Limb-Girdle Muscular Dystrophy Type 1C semapv:UnspecifiedMatching MONDO:0011910 obsolete autosomal dominant limb-girdle muscular dystrophy type 1C skos:exactMatch OMIM:607801 semapv:UnspecifiedMatching MONDO:0011910 obsolete autosomal dominant limb-girdle muscular dystrophy type 1C skos:exactMatch Orphanet:265 Autosomal dominant limb-girdle muscular dystrophy type 1C semapv:UnspecifiedMatching MONDO:0011910 obsolete autosomal dominant limb-girdle muscular dystrophy type 1C skos:exactMatch SCTID:719986000 semapv:UnspecifiedMatching MONDO:0011910 obsolete autosomal dominant limb-girdle muscular dystrophy type 1C skos:exactMatch mesh:C563362 semapv:UnspecifiedMatching MONDO:0011911 craniolenticulosutural dysplasia skos:exactMatch DOID:0070307 craniolenticulosutural dysplasia semapv:UnspecifiedMatching MONDO:0011911 craniolenticulosutural dysplasia skos:exactMatch MEDGEN:334671 semapv:UnspecifiedMatching MONDO:0011911 craniolenticulosutural dysplasia skos:exactMatch OMIM:607812 craniolenticulosutural dysplasia semapv:UnspecifiedMatching MONDO:0011911 craniolenticulosutural dysplasia skos:exactMatch Orphanet:50814 Craniolenticulosutural dysplasia semapv:UnspecifiedMatching MONDO:0011911 craniolenticulosutural dysplasia skos:exactMatch SCTID:725100001 semapv:UnspecifiedMatching MONDO:0011911 craniolenticulosutural dysplasia skos:exactMatch UMLS:C1843042 semapv:UnspecifiedMatching MONDO:0011911 craniolenticulosutural dysplasia skos:exactMatch icd11.foundation:970423180 Craniolenticulosutural dysplasia semapv:UnspecifiedMatching MONDO:0011911 craniolenticulosutural dysplasia skos:exactMatch mesh:C564332 semapv:UnspecifiedMatching MONDO:0011912 autosomal recessive nonsyndromic hearing loss 37 skos:exactMatch DOID:0110495 autosomal recessive nonsyndromic deafness 37 semapv:UnspecifiedMatching MONDO:0011912 autosomal recessive nonsyndromic hearing loss 37 skos:exactMatch MEDGEN:375076 semapv:UnspecifiedMatching MONDO:0011912 autosomal recessive nonsyndromic hearing loss 37 skos:exactMatch OMIM:607821 deafness, autosomal recessive 37 semapv:UnspecifiedMatching MONDO:0011912 autosomal recessive nonsyndromic hearing loss 37 skos:exactMatch UMLS:C1843028 semapv:UnspecifiedMatching MONDO:0011912 autosomal recessive nonsyndromic hearing loss 37 skos:exactMatch mesh:C564331 semapv:UnspecifiedMatching MONDO:0011913 Alzheimer disease 3 skos:exactMatch DOID:0110042 Alzheimer's disease 3 semapv:UnspecifiedMatching MONDO:0011913 Alzheimer disease 3 skos:exactMatch MEDGEN:334304 semapv:UnspecifiedMatching MONDO:0011913 Alzheimer disease 3 skos:exactMatch NCIT:C123412 Alzheimer's Disease 3 semapv:UnspecifiedMatching MONDO:0011913 Alzheimer disease 3 skos:exactMatch OMIM:607822 alzheimer disease 3 semapv:UnspecifiedMatching MONDO:0011913 Alzheimer disease 3 skos:exactMatch UMLS:C1843013 semapv:UnspecifiedMatching MONDO:0011913 Alzheimer disease 3 skos:exactMatch mesh:C536598 semapv:UnspecifiedMatching MONDO:0011914 hypotrichosis-lymphedema-telangiectasia syndrome skos:exactMatch DOID:0111361 hypotrichosis-lymphedema-telangiectasia syndrome semapv:UnspecifiedMatching MONDO:0011914 hypotrichosis-lymphedema-telangiectasia syndrome skos:exactMatch MEDGEN:375070 semapv:UnspecifiedMatching MONDO:0011914 hypotrichosis-lymphedema-telangiectasia syndrome skos:exactMatch OMIM:607823 hypotrichosis-lymphedema-telangiectasia syndrome semapv:UnspecifiedMatching MONDO:0011914 hypotrichosis-lymphedema-telangiectasia syndrome skos:exactMatch UMLS:C1843004 semapv:UnspecifiedMatching MONDO:0011914 hypotrichosis-lymphedema-telangiectasia syndrome skos:exactMatch mesh:C564327 semapv:UnspecifiedMatching MONDO:0011915 mitral valve prolapse, myxomatous 2 skos:exactMatch MEDGEN:335856 semapv:UnspecifiedMatching MONDO:0011915 mitral valve prolapse, myxomatous 2 skos:exactMatch OMIM:607829 mitral valve prolapse 2 semapv:UnspecifiedMatching MONDO:0011915 mitral valve prolapse, myxomatous 2 skos:exactMatch UMLS:C1843003 semapv:UnspecifiedMatching MONDO:0011915 mitral valve prolapse, myxomatous 2 skos:exactMatch mesh:C564326 semapv:UnspecifiedMatching MONDO:0011916 Charcot-Marie-Tooth disease axonal type 2K skos:exactMatch DOID:0110167 Charcot-Marie-Tooth disease axonal type 2K semapv:UnspecifiedMatching MONDO:0011916 Charcot-Marie-Tooth disease axonal type 2K skos:exactMatch MEDGEN:375064 semapv:UnspecifiedMatching MONDO:0011916 Charcot-Marie-Tooth disease axonal type 2K skos:exactMatch OMIM:607831 charcot-marie-tooth disease, axonal, type 2k semapv:UnspecifiedMatching MONDO:0011916 Charcot-Marie-Tooth disease axonal type 2K skos:exactMatch Orphanet:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness semapv:UnspecifiedMatching MONDO:0011916 Charcot-Marie-Tooth disease axonal type 2K skos:exactMatch SCTID:725047007 semapv:UnspecifiedMatching MONDO:0011916 Charcot-Marie-Tooth disease axonal type 2K skos:exactMatch UMLS:C1842983 semapv:UnspecifiedMatching MONDO:0011917 focal segmental glomerulosclerosis 3, susceptibility to skos:exactMatch DOID:0112245 focal segmental glomerulosclerosis 3 semapv:UnspecifiedMatching MONDO:0011917 focal segmental glomerulosclerosis 3, susceptibility to skos:exactMatch MEDGEN:335850 semapv:UnspecifiedMatching MONDO:0011917 focal segmental glomerulosclerosis 3, susceptibility to skos:exactMatch OMIM:607832 focal segmental glomerulosclerosis 3, susceptibility to semapv:UnspecifiedMatching MONDO:0011917 focal segmental glomerulosclerosis 3, susceptibility to skos:exactMatch UMLS:C1842982 semapv:UnspecifiedMatching MONDO:0011918 anxiety skos:exactMatch MEDGEN:1613 semapv:UnspecifiedMatching MONDO:0011918 anxiety skos:exactMatch OMIM:607834 anxiety semapv:UnspecifiedMatching MONDO:0011918 anxiety skos:exactMatch UMLS:C0003467 semapv:UnspecifiedMatching MONDO:0011918 anxiety skos:exactMatch icd11.foundation:2027043655 Anxiety semapv:UnspecifiedMatching MONDO:0011918 anxiety skos:exactMatch mesh:D001007 semapv:UnspecifiedMatching MONDO:0011919 autoimmune disease, susceptibility to, 1 skos:exactMatch MEDGEN:335848 semapv:UnspecifiedMatching MONDO:0011919 autoimmune disease, susceptibility to, 1 skos:exactMatch OMIM:607836 autoimmune disease, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0011919 autoimmune disease, susceptibility to, 1 skos:exactMatch UMLS:C1842979 semapv:UnspecifiedMatching MONDO:0011920 autosomal dominant nonsyndromic hearing loss 48 skos:exactMatch DOID:0110571 autosomal dominant nonsyndromic deafness 48 semapv:UnspecifiedMatching MONDO:0011920 autosomal dominant nonsyndromic hearing loss 48 skos:exactMatch MEDGEN:375052 semapv:UnspecifiedMatching MONDO:0011920 autosomal dominant nonsyndromic hearing loss 48 skos:exactMatch OMIM:607841 deafness, autosomal dominant 48 semapv:UnspecifiedMatching MONDO:0011920 autosomal dominant nonsyndromic hearing loss 48 skos:exactMatch UMLS:C1842939 semapv:UnspecifiedMatching MONDO:0011920 autosomal dominant nonsyndromic hearing loss 48 skos:exactMatch mesh:C564322 semapv:UnspecifiedMatching MONDO:0011921 aural atresia, congenital skos:exactMatch MEDGEN:375051 semapv:UnspecifiedMatching MONDO:0011921 aural atresia, congenital skos:exactMatch OMIM:607842 aural atresia, congenital semapv:UnspecifiedMatching MONDO:0011921 aural atresia, congenital skos:exactMatch UMLS:C1842937 semapv:UnspecifiedMatching MONDO:0011921 aural atresia, congenital skos:exactMatch mesh:C564321 semapv:UnspecifiedMatching MONDO:0011922 nonimmune chronic idiopathic neutropenia of adults skos:exactMatch MEDGEN:375050 semapv:UnspecifiedMatching MONDO:0011922 nonimmune chronic idiopathic neutropenia of adults skos:exactMatch OMIM:607847 neutropenia, nonimmune chronic idiopathic, of adults semapv:UnspecifiedMatching MONDO:0011922 nonimmune chronic idiopathic neutropenia of adults skos:exactMatch Orphanet:2688 Adult idiopathic neutropenia semapv:UnspecifiedMatching MONDO:0011922 nonimmune chronic idiopathic neutropenia of adults skos:exactMatch UMLS:C1842930 semapv:UnspecifiedMatching MONDO:0011922 nonimmune chronic idiopathic neutropenia of adults skos:exactMatch mesh:C564320 semapv:UnspecifiedMatching MONDO:0011923 osteoarthritis susceptibility 3 skos:exactMatch MEDGEN:382650 semapv:UnspecifiedMatching MONDO:0011923 osteoarthritis susceptibility 3 skos:exactMatch OMIM:607850 osteoarthritis susceptibility 3 semapv:UnspecifiedMatching MONDO:0011923 osteoarthritis susceptibility 3 skos:exactMatch UMLS:C2675609 semapv:UnspecifiedMatching MONDO:0011924 panic disorder 2 skos:exactMatch MEDGEN:375048 semapv:UnspecifiedMatching MONDO:0011924 panic disorder 2 skos:exactMatch OMIM:607853 panic disorder 2 semapv:UnspecifiedMatching MONDO:0011924 panic disorder 2 skos:exactMatch UMLS:C1842922 semapv:UnspecifiedMatching MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A skos:exactMatch DOID:0110636 congenital merosin-deficient muscular dystrophy 1A semapv:UnspecifiedMatching MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A skos:exactMatch MEDGEN:224728 semapv:UnspecifiedMatching MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A skos:exactMatch NCIT:C118783 Merosin-Deficient Congenital Muscular Dystrophy Type 1A semapv:UnspecifiedMatching MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A skos:exactMatch OMIM:607855 muscular dystrophy, congenital merosin-deficient, 1a semapv:UnspecifiedMatching MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A skos:exactMatch Orphanet:258 Laminin subunit alpha 2-related congenital muscular dystrophy semapv:UnspecifiedMatching MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A skos:exactMatch SCTID:111503008 semapv:UnspecifiedMatching MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A skos:exactMatch UMLS:C1263858 semapv:UnspecifiedMatching MONDO:0011926 psoriasis 9, susceptibility to skos:exactMatch DOID:0111284 psoriasis 9 semapv:UnspecifiedMatching MONDO:0011926 psoriasis 9, susceptibility to skos:exactMatch MEDGEN:334635 semapv:UnspecifiedMatching MONDO:0011926 psoriasis 9, susceptibility to skos:exactMatch OMIM:607857 psoriasis 9, susceptibility to semapv:UnspecifiedMatching MONDO:0011926 psoriasis 9, susceptibility to skos:exactMatch UMLS:C1842897 semapv:UnspecifiedMatching MONDO:0011927 tufted angioma skos:exactMatch MEDGEN:83402 semapv:UnspecifiedMatching MONDO:0011927 tufted angioma skos:exactMatch NCIT:C4487 Tufted Hemangioma semapv:UnspecifiedMatching MONDO:0011927 tufted angioma skos:exactMatch OMIM:607859 angioma, tufted semapv:UnspecifiedMatching MONDO:0011927 tufted angioma skos:exactMatch Orphanet:1063 Tufted angioma semapv:UnspecifiedMatching MONDO:0011927 tufted angioma skos:exactMatch SCTID:705155008 semapv:UnspecifiedMatching MONDO:0011927 tufted angioma skos:exactMatch UMLS:C0346073 semapv:UnspecifiedMatching MONDO:0011927 tufted angioma skos:exactMatch icd11.foundation:1994573217 Tufted angioma semapv:UnspecifiedMatching MONDO:0011927 tufted angioma skos:exactMatch mesh:C536924 semapv:UnspecifiedMatching MONDO:0011928 caudal duplication skos:exactMatch MEDGEN:335822 semapv:UnspecifiedMatching MONDO:0011928 caudal duplication skos:exactMatch OMIM:607864 caudal duplication anomaly semapv:UnspecifiedMatching MONDO:0011928 caudal duplication skos:exactMatch Orphanet:1756 Caudal duplication semapv:UnspecifiedMatching MONDO:0011928 caudal duplication skos:exactMatch SCTID:71464000 semapv:UnspecifiedMatching MONDO:0011928 caudal duplication skos:exactMatch UMLS:C1842884 semapv:UnspecifiedMatching MONDO:0011928 caudal duplication skos:exactMatch icd11.foundation:1949559803 Caudal duplication semapv:UnspecifiedMatching MONDO:0011928 caudal duplication skos:exactMatch mesh:C564315 semapv:UnspecifiedMatching MONDO:0011929 chromosome 1p36 deletion syndrome skos:exactMatch DOID:0060410 chromosome 1p36 deletion syndrome semapv:UnspecifiedMatching MONDO:0011929 chromosome 1p36 deletion syndrome skos:exactMatch MEDGEN:334629 semapv:UnspecifiedMatching MONDO:0011929 chromosome 1p36 deletion syndrome skos:exactMatch NCIT:C74983 1p36 Deletion Syndrome semapv:UnspecifiedMatching MONDO:0011929 chromosome 1p36 deletion syndrome skos:exactMatch OMIM:607872 chromosome 1p36 deletion syndrome, distal semapv:UnspecifiedMatching MONDO:0011929 chromosome 1p36 deletion syndrome skos:exactMatch Orphanet:1606 1p36 deletion syndrome semapv:UnspecifiedMatching MONDO:0011929 chromosome 1p36 deletion syndrome skos:exactMatch SCTID:699306003 semapv:UnspecifiedMatching MONDO:0011929 chromosome 1p36 deletion syndrome skos:exactMatch UMLS:C1842870 semapv:UnspecifiedMatching MONDO:0011929 chromosome 1p36 deletion syndrome skos:exactMatch mesh:C535362 semapv:UnspecifiedMatching MONDO:0011930 epilepsy, familial adult myoclonic, 2 skos:exactMatch DOID:0111692 familial adult myoclonic epilepsy 2 semapv:UnspecifiedMatching MONDO:0011930 epilepsy, familial adult myoclonic, 2 skos:exactMatch MEDGEN:375031 semapv:UnspecifiedMatching MONDO:0011930 epilepsy, familial adult myoclonic, 2 skos:exactMatch OMIM:607876 epilepsy, familial adult myoclonic, 2 semapv:UnspecifiedMatching MONDO:0011930 epilepsy, familial adult myoclonic, 2 skos:exactMatch UMLS:C1842852 semapv:UnspecifiedMatching MONDO:0011930 epilepsy, familial adult myoclonic, 2 skos:exactMatch mesh:C564313 semapv:UnspecifiedMatching MONDO:0011931 ovarian cancer, susceptibility to, 1 skos:exactMatch MEDGEN:390836 semapv:UnspecifiedMatching MONDO:0011931 ovarian cancer, susceptibility to, 1 skos:exactMatch OMIM:607893 ovarian cancer, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0011931 ovarian cancer, susceptibility to, 1 skos:exactMatch UMLS:C2675601 semapv:UnspecifiedMatching MONDO:0011932 hypotrichosis 6 skos:exactMatch DOID:0110703 hypotrichosis 6 semapv:UnspecifiedMatching MONDO:0011932 hypotrichosis 6 skos:exactMatch MEDGEN:335812 semapv:UnspecifiedMatching MONDO:0011932 hypotrichosis 6 skos:exactMatch OMIM:607903 hypotrichosis 6 semapv:UnspecifiedMatching MONDO:0011932 hypotrichosis 6 skos:exactMatch UMLS:C1842839 semapv:UnspecifiedMatching MONDO:0011932 hypotrichosis 6 skos:exactMatch mesh:C564312 semapv:UnspecifiedMatching MONDO:0011933 ALG2-congenital disorder of glycosylation skos:exactMatch DOID:0080561 congenital disorder of glycosylation Ii semapv:UnspecifiedMatching MONDO:0011933 ALG2-congenital disorder of glycosylation skos:exactMatch MEDGEN:334618 semapv:UnspecifiedMatching MONDO:0011933 ALG2-congenital disorder of glycosylation skos:exactMatch OMIM:607906 congenital disorder of glycosylation, type ii semapv:UnspecifiedMatching MONDO:0011933 ALG2-congenital disorder of glycosylation skos:exactMatch Orphanet:79326 ALG2-CDG semapv:UnspecifiedMatching MONDO:0011933 ALG2-congenital disorder of glycosylation skos:exactMatch UMLS:C1842836 semapv:UnspecifiedMatching MONDO:0011934 dermatofibrosarcoma protuberans skos:exactMatch DOID:3507 dermatofibrosarcoma protuberans semapv:UnspecifiedMatching MONDO:0011934 dermatofibrosarcoma protuberans skos:exactMatch MEDGEN:811326 semapv:UnspecifiedMatching MONDO:0011934 dermatofibrosarcoma protuberans skos:exactMatch NCIT:C4683 Dermatofibrosarcoma Protuberans semapv:UnspecifiedMatching MONDO:0011934 dermatofibrosarcoma protuberans skos:exactMatch OMIM:607907 dermatofibrosarcoma protuberans semapv:UnspecifiedMatching MONDO:0011934 dermatofibrosarcoma protuberans skos:exactMatch Orphanet:31112 Dermatofibrosarcoma protuberans semapv:UnspecifiedMatching MONDO:0011934 dermatofibrosarcoma protuberans skos:exactMatch SCTID:276799004 semapv:UnspecifiedMatching MONDO:0011934 dermatofibrosarcoma protuberans skos:exactMatch UMLS:C3693482 semapv:UnspecifiedMatching MONDO:0011934 dermatofibrosarcoma protuberans skos:exactMatch icd11.foundation:1579898301 Dermatofibrosarcoma protuberans semapv:UnspecifiedMatching MONDO:0011934 dermatofibrosarcoma protuberans skos:exactMatch mesh:D018223 semapv:UnspecifiedMatching MONDO:0011935 retinitis pigmentosa 30 skos:exactMatch DOID:0110406 retinitis pigmentosa 30 semapv:UnspecifiedMatching MONDO:0011935 retinitis pigmentosa 30 skos:exactMatch MEDGEN:334614 semapv:UnspecifiedMatching MONDO:0011935 retinitis pigmentosa 30 skos:exactMatch OMIM:607921 retinitis pigmentosa 30 semapv:UnspecifiedMatching MONDO:0011935 retinitis pigmentosa 30 skos:exactMatch UMLS:C1842816 semapv:UnspecifiedMatching MONDO:0011936 microphthalmia with brain and digit anomalies skos:exactMatch DOID:0111805 syndromic microphthalmia 6 semapv:UnspecifiedMatching MONDO:0011936 microphthalmia with brain and digit anomalies skos:exactMatch MEDGEN:355268 semapv:UnspecifiedMatching MONDO:0011936 microphthalmia with brain and digit anomalies skos:exactMatch OMIM:607932 microphthalmia, syndromic 6 semapv:UnspecifiedMatching MONDO:0011936 microphthalmia with brain and digit anomalies skos:exactMatch Orphanet:139471 Microphthalmia with brain and digit anomalies semapv:UnspecifiedMatching MONDO:0011936 microphthalmia with brain and digit anomalies skos:exactMatch SCTID:721878003 semapv:UnspecifiedMatching MONDO:0011936 microphthalmia with brain and digit anomalies skos:exactMatch UMLS:C1864689 semapv:UnspecifiedMatching MONDO:0011936 microphthalmia with brain and digit anomalies skos:exactMatch mesh:C566440 semapv:UnspecifiedMatching MONDO:0011937 peeling skin syndrome 4 skos:exactMatch DOID:0070523 peeling skin syndrome 4 semapv:UnspecifiedMatching MONDO:0011937 peeling skin syndrome 4 skos:exactMatch MEDGEN:895692 semapv:UnspecifiedMatching MONDO:0011937 peeling skin syndrome 4 skos:exactMatch OMIM:607936 peeling skin syndrome 4 semapv:UnspecifiedMatching MONDO:0011937 peeling skin syndrome 4 skos:exactMatch UMLS:C4225407 semapv:UnspecifiedMatching MONDO:0011937 peeling skin syndrome 4 skos:exactMatch mesh:C564309 semapv:UnspecifiedMatching MONDO:0011938 atrial septal defect 2 skos:exactMatch DOID:0110107 atrial heart septal defect 2 semapv:UnspecifiedMatching MONDO:0011938 atrial septal defect 2 skos:exactMatch MEDGEN:334249 semapv:UnspecifiedMatching MONDO:0011938 atrial septal defect 2 skos:exactMatch OMIM:607941 atrial septal defect 2 semapv:UnspecifiedMatching MONDO:0011938 atrial septal defect 2 skos:exactMatch UMLS:C1842778 semapv:UnspecifiedMatching MONDO:0011938 atrial septal defect 2 skos:exactMatch mesh:C538263 semapv:UnspecifiedMatching MONDO:0011939 Spondyloenchondrodysplasia with immune dysregulation skos:exactMatch MEDGEN:375009 semapv:UnspecifiedMatching MONDO:0011939 Spondyloenchondrodysplasia with immune dysregulation skos:exactMatch OMIM:607944 spondyloenchondrodysplasia with immune dysregulation semapv:UnspecifiedMatching MONDO:0011939 Spondyloenchondrodysplasia with immune dysregulation skos:exactMatch Orphanet:1855 Spondyloenchondrodysplasia semapv:UnspecifiedMatching MONDO:0011939 Spondyloenchondrodysplasia with immune dysregulation skos:exactMatch SCTID:703523004 semapv:UnspecifiedMatching MONDO:0011939 Spondyloenchondrodysplasia with immune dysregulation skos:exactMatch UMLS:C1842763 semapv:UnspecifiedMatching MONDO:0011939 Spondyloenchondrodysplasia with immune dysregulation skos:exactMatch mesh:C564307 semapv:UnspecifiedMatching MONDO:0011941 Mycobacterium tuberculosis, susceptibility to, 1 skos:exactMatch MEDGEN:334244 semapv:UnspecifiedMatching MONDO:0011941 Mycobacterium tuberculosis, susceptibility to, 1 skos:exactMatch OMIM:607949 mycobacterium tuberculosis, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0011941 Mycobacterium tuberculosis, susceptibility to, 1 skos:exactMatch UMLS:C1842762 semapv:UnspecifiedMatching MONDO:0011942 systemic lupus erythematosus with nephritis, susceptibility to, 1 skos:exactMatch MEDGEN:335794 semapv:UnspecifiedMatching MONDO:0011942 systemic lupus erythematosus with nephritis, susceptibility to, 1 skos:exactMatch OMIM:607965 systemic lupus erythematosus with nephritis, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0011942 systemic lupus erythematosus with nephritis, susceptibility to, 1 skos:exactMatch UMLS:C1842757 semapv:UnspecifiedMatching MONDO:0011943 systemic lupus erythematosus with nephritis, susceptibility to, 2 skos:exactMatch MEDGEN:375006 semapv:UnspecifiedMatching MONDO:0011943 systemic lupus erythematosus with nephritis, susceptibility to, 2 skos:exactMatch OMIM:607966 systemic lupus erythematosus with nephritis, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0011943 systemic lupus erythematosus with nephritis, susceptibility to, 2 skos:exactMatch UMLS:C1842756 semapv:UnspecifiedMatching MONDO:0011944 systemic lupus erythematosus with nephritis, susceptibility to, 3 skos:exactMatch MEDGEN:335793 semapv:UnspecifiedMatching MONDO:0011944 systemic lupus erythematosus with nephritis, susceptibility to, 3 skos:exactMatch OMIM:607967 systemic lupus erythematosus with nephritis, susceptibility to, 3 semapv:UnspecifiedMatching MONDO:0011944 systemic lupus erythematosus with nephritis, susceptibility to, 3 skos:exactMatch UMLS:C1842755 semapv:UnspecifiedMatching MONDO:0011945 Gaucher disease perinatal lethal skos:exactMatch DOID:0110960 Gaucher's disease perinatal lethal semapv:UnspecifiedMatching MONDO:0011945 Gaucher disease perinatal lethal skos:exactMatch MEDGEN:374996 semapv:UnspecifiedMatching MONDO:0011945 Gaucher disease perinatal lethal skos:exactMatch OMIM:608013 gaucher disease, perinatal lethal semapv:UnspecifiedMatching MONDO:0011945 Gaucher disease perinatal lethal skos:exactMatch Orphanet:85212 Fetal Gaucher disease semapv:UnspecifiedMatching MONDO:0011945 Gaucher disease perinatal lethal skos:exactMatch SCTID:870313002 semapv:UnspecifiedMatching MONDO:0011945 Gaucher disease perinatal lethal skos:exactMatch UMLS:C1842704 semapv:UnspecifiedMatching MONDO:0011945 Gaucher disease perinatal lethal skos:exactMatch mesh:C564306 semapv:UnspecifiedMatching MONDO:0011946 diaphanospondylodysostosis skos:exactMatch MEDGEN:374993 semapv:UnspecifiedMatching MONDO:0011946 diaphanospondylodysostosis skos:exactMatch OMIM:608022 diaphanospondylodysostosis semapv:UnspecifiedMatching MONDO:0011946 diaphanospondylodysostosis skos:exactMatch Orphanet:66637 Diaphanospondylodysostosis semapv:UnspecifiedMatching MONDO:0011946 diaphanospondylodysostosis skos:exactMatch SCTID:721094006 semapv:UnspecifiedMatching MONDO:0011946 diaphanospondylodysostosis skos:exactMatch UMLS:C1842691 semapv:UnspecifiedMatching MONDO:0011946 diaphanospondylodysostosis skos:exactMatch icd11.foundation:508093071 Diaphanospondylodysostosis semapv:UnspecifiedMatching MONDO:0011946 diaphanospondylodysostosis skos:exactMatch mesh:C564305 semapv:UnspecifiedMatching MONDO:0011948 pontocerebellar hypoplasia type 3 skos:exactMatch DOID:0060272 pontocerebellar hypoplasia type 3 semapv:UnspecifiedMatching MONDO:0011948 pontocerebellar hypoplasia type 3 skos:exactMatch MEDGEN:334225 semapv:UnspecifiedMatching MONDO:0011948 pontocerebellar hypoplasia type 3 skos:exactMatch OMIM:608027 pontocerebellar hypoplasia, type 3 semapv:UnspecifiedMatching MONDO:0011948 pontocerebellar hypoplasia type 3 skos:exactMatch Orphanet:97249 Pontocerebellar hypoplasia type 3 semapv:UnspecifiedMatching MONDO:0011948 pontocerebellar hypoplasia type 3 skos:exactMatch SCTID:718609003 semapv:UnspecifiedMatching MONDO:0011948 pontocerebellar hypoplasia type 3 skos:exactMatch UMLS:C1842687 semapv:UnspecifiedMatching MONDO:0011948 pontocerebellar hypoplasia type 3 skos:exactMatch icd11.foundation:378477807 Pontocerebellar hypoplasia type 3 semapv:UnspecifiedMatching MONDO:0011948 pontocerebellar hypoplasia type 3 skos:exactMatch mesh:C548072 semapv:UnspecifiedMatching MONDO:0011949 Thai symphalangism syndrome skos:exactMatch MEDGEN:374990 semapv:UnspecifiedMatching MONDO:0011949 Thai symphalangism syndrome skos:exactMatch OMIM:608028 thai symphalangism syndrome semapv:UnspecifiedMatching MONDO:0011949 Thai symphalangism syndrome skos:exactMatch UMLS:C1842679 semapv:UnspecifiedMatching MONDO:0011949 Thai symphalangism syndrome skos:exactMatch mesh:C564303 semapv:UnspecifiedMatching MONDO:0011950 infantile-onset autosomal recessive nonprogressive cerebellar ataxia skos:exactMatch DOID:0111617 autosomal recessive spinocerebellar ataxia 6 semapv:UnspecifiedMatching MONDO:0011950 infantile-onset autosomal recessive nonprogressive cerebellar ataxia skos:exactMatch MEDGEN:334220 semapv:UnspecifiedMatching MONDO:0011950 infantile-onset autosomal recessive nonprogressive cerebellar ataxia skos:exactMatch OMIM:608029 spinocerebellar ataxia, autosomal recessive 6 semapv:UnspecifiedMatching MONDO:0011950 infantile-onset autosomal recessive nonprogressive cerebellar ataxia skos:exactMatch Orphanet:284332 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia semapv:UnspecifiedMatching MONDO:0011950 infantile-onset autosomal recessive nonprogressive cerebellar ataxia skos:exactMatch UMLS:C1842676 semapv:UnspecifiedMatching MONDO:0011950 infantile-onset autosomal recessive nonprogressive cerebellar ataxia skos:exactMatch mesh:C537312 semapv:UnspecifiedMatching MONDO:0011951 amyotrophic lateral sclerosis type 6 skos:exactMatch DOID:0060198 amyotrophic lateral sclerosis type 6 semapv:UnspecifiedMatching MONDO:0011951 amyotrophic lateral sclerosis type 6 skos:exactMatch MEDGEN:419901 semapv:UnspecifiedMatching MONDO:0011951 amyotrophic lateral sclerosis type 6 skos:exactMatch OMIM:608030 amyotrophic lateral sclerosis 6 with or without frontotemporal dementia semapv:UnspecifiedMatching MONDO:0011951 amyotrophic lateral sclerosis type 6 skos:exactMatch UMLS:C2931786 semapv:UnspecifiedMatching MONDO:0011951 amyotrophic lateral sclerosis type 6 skos:exactMatch mesh:C567699 semapv:UnspecifiedMatching MONDO:0011952 amyotrophic lateral sclerosis type 7 skos:exactMatch DOID:0060199 amyotrophic lateral sclerosis type 7 semapv:UnspecifiedMatching MONDO:0011952 amyotrophic lateral sclerosis type 7 skos:exactMatch MEDGEN:334136 semapv:UnspecifiedMatching MONDO:0011952 amyotrophic lateral sclerosis type 7 skos:exactMatch OMIM:608031 amyotrophic lateral sclerosis 7 semapv:UnspecifiedMatching MONDO:0011952 amyotrophic lateral sclerosis type 7 skos:exactMatch UMLS:C1842674 semapv:UnspecifiedMatching MONDO:0011952 amyotrophic lateral sclerosis type 7 skos:exactMatch mesh:C564300 semapv:UnspecifiedMatching MONDO:0011953 familial acute necrotizing encephalopathy skos:exactMatch MEDGEN:382634 semapv:UnspecifiedMatching MONDO:0011953 familial acute necrotizing encephalopathy skos:exactMatch OMIM:608033 encephalopathy, acute, infection-induced, susceptibility to, 3 semapv:UnspecifiedMatching MONDO:0011953 familial acute necrotizing encephalopathy skos:exactMatch Orphanet:88619 Familial acute necrotizing encephalopathy semapv:UnspecifiedMatching MONDO:0011953 familial acute necrotizing encephalopathy skos:exactMatch SCTID:723359002 semapv:UnspecifiedMatching MONDO:0011953 familial acute necrotizing encephalopathy skos:exactMatch UMLS:C2675556 semapv:UnspecifiedMatching MONDO:0011954 melanoma, cutaneous malignant, susceptibility to, 4 skos:exactMatch MEDGEN:334129 semapv:UnspecifiedMatching MONDO:0011954 melanoma, cutaneous malignant, susceptibility to, 4 skos:exactMatch OMIM:608035 melanoma, cutaneous malignant, susceptibility to, 4 semapv:UnspecifiedMatching MONDO:0011954 melanoma, cutaneous malignant, susceptibility to, 4 skos:exactMatch UMLS:C1842643 semapv:UnspecifiedMatching MONDO:0011955 diabetes mellitus, noninsulin-dependent, 4 skos:exactMatch MEDGEN:334578 semapv:UnspecifiedMatching MONDO:0011955 diabetes mellitus, noninsulin-dependent, 4 skos:exactMatch OMIM:608036 type 2 diabetes mellitus 4 semapv:UnspecifiedMatching MONDO:0011955 diabetes mellitus, noninsulin-dependent, 4 skos:exactMatch UMLS:C1842642 semapv:UnspecifiedMatching MONDO:0011955 diabetes mellitus, noninsulin-dependent, 4 skos:exactMatch mesh:C564299 semapv:UnspecifiedMatching MONDO:0011956 autism, susceptibility to, 3 skos:exactMatch MEDGEN:334211 semapv:UnspecifiedMatching MONDO:0011956 autism, susceptibility to, 3 skos:exactMatch OMIM:608049 autism, susceptibility to, 3 semapv:UnspecifiedMatching MONDO:0011956 autism, susceptibility to, 3 skos:exactMatch UMLS:C1842632 semapv:UnspecifiedMatching MONDO:0011957 retinal macular dystrophy type 2 skos:exactMatch DOID:0070517 retinal macular dystrophy 2 semapv:UnspecifiedMatching MONDO:0011957 retinal macular dystrophy type 2 skos:exactMatch MEDGEN:1666864 semapv:UnspecifiedMatching MONDO:0011957 retinal macular dystrophy type 2 skos:exactMatch OMIM:608051 macular dystrophy, retinal, 2 semapv:UnspecifiedMatching MONDO:0011957 retinal macular dystrophy type 2 skos:exactMatch Orphanet:319640 Retinal macular dystrophy type 2 semapv:UnspecifiedMatching MONDO:0011957 retinal macular dystrophy type 2 skos:exactMatch UMLS:C4749334 semapv:UnspecifiedMatching MONDO:0011957 retinal macular dystrophy type 2 skos:exactMatch mesh:C562746 semapv:UnspecifiedMatching MONDO:0011958 bile and pancreatic ducts, complete absence of skos:exactMatch MEDGEN:374974 semapv:UnspecifiedMatching MONDO:0011958 bile and pancreatic ducts, complete absence of skos:exactMatch OMIM:608063 bile and pancreatic ducts, complete absence of semapv:UnspecifiedMatching MONDO:0011958 bile and pancreatic ducts, complete absence of skos:exactMatch UMLS:C1842614 semapv:UnspecifiedMatching MONDO:0011958 bile and pancreatic ducts, complete absence of skos:exactMatch mesh:C564298 semapv:UnspecifiedMatching MONDO:0011959 sweet syndrome skos:exactMatch DOID:0080746 Sweet syndrome semapv:UnspecifiedMatching MONDO:0011959 sweet syndrome skos:exactMatch MEDGEN:43097 semapv:UnspecifiedMatching MONDO:0011959 sweet syndrome skos:exactMatch NCIT:C85177 Sweet Syndrome semapv:UnspecifiedMatching MONDO:0011959 sweet syndrome skos:exactMatch OMIM:608068 neutrophilic dermatosis, acute febrile semapv:UnspecifiedMatching MONDO:0011959 sweet syndrome skos:exactMatch Orphanet:3243 Sweet syndrome semapv:UnspecifiedMatching MONDO:0011959 sweet syndrome skos:exactMatch SCTID:84625002 semapv:UnspecifiedMatching MONDO:0011959 sweet syndrome skos:exactMatch UMLS:C0085077 semapv:UnspecifiedMatching MONDO:0011959 sweet syndrome skos:exactMatch icd11.foundation:195212152 Acute febrile neutrophilic dermatosis semapv:UnspecifiedMatching MONDO:0011959 sweet syndrome skos:exactMatch mesh:D016463 semapv:UnspecifiedMatching MONDO:0011960 schizophrenia 11 skos:exactMatch DOID:0070087 schizophrenia 11 semapv:UnspecifiedMatching MONDO:0011960 schizophrenia 11 skos:exactMatch MEDGEN:334205 semapv:UnspecifiedMatching MONDO:0011960 schizophrenia 11 skos:exactMatch OMIM:608078 schizophrenia 11 semapv:UnspecifiedMatching MONDO:0011960 schizophrenia 11 skos:exactMatch UMLS:C1842605 semapv:UnspecifiedMatching MONDO:0011962 endometrial cancer skos:exactMatch DOID:1380 endometrial cancer semapv:UnspecifiedMatching MONDO:0011962 endometrial cancer skos:exactMatch ICD10CM:C54.1 Malignant neoplasm of endometrium semapv:UnspecifiedMatching MONDO:0011962 endometrial cancer skos:exactMatch MEDGEN:2840 semapv:UnspecifiedMatching MONDO:0011962 endometrial cancer skos:exactMatch NCIT:C27815 Malignant Endometrial Neoplasm semapv:UnspecifiedMatching MONDO:0011962 endometrial cancer skos:exactMatch OMIM:608089 endometrial cancer semapv:UnspecifiedMatching MONDO:0011962 endometrial cancer skos:exactMatch UMLS:C0007103 semapv:UnspecifiedMatching MONDO:0011963 Joubert syndrome 2 skos:exactMatch DOID:0110988 Joubert syndrome 2 semapv:UnspecifiedMatching MONDO:0011963 Joubert syndrome 2 skos:exactMatch MEDGEN:334114 semapv:UnspecifiedMatching MONDO:0011963 Joubert syndrome 2 skos:exactMatch OMIM:608091 joubert syndrome 2 semapv:UnspecifiedMatching MONDO:0011963 Joubert syndrome 2 skos:exactMatch UMLS:C1842577 semapv:UnspecifiedMatching MONDO:0011963 Joubert syndrome 2 skos:exactMatch mesh:C536294 semapv:UnspecifiedMatching MONDO:0011964 DPAGT1-congenital disorder of glycosylation skos:exactMatch DOID:0080562 congenital disorder of glycosylation Ij semapv:UnspecifiedMatching MONDO:0011964 DPAGT1-congenital disorder of glycosylation skos:exactMatch MEDGEN:419694 semapv:UnspecifiedMatching MONDO:0011964 DPAGT1-congenital disorder of glycosylation skos:exactMatch NCIT:C126874 Congenital Disorder of Glycosylation Type Ij semapv:UnspecifiedMatching MONDO:0011964 DPAGT1-congenital disorder of glycosylation skos:exactMatch OMIM:608093 congenital disorder of glycosylation, type ij semapv:UnspecifiedMatching MONDO:0011964 DPAGT1-congenital disorder of glycosylation skos:exactMatch Orphanet:86309 DPAGT1-CDG semapv:UnspecifiedMatching MONDO:0011964 DPAGT1-congenital disorder of glycosylation skos:exactMatch SCTID:725079003 semapv:UnspecifiedMatching MONDO:0011964 DPAGT1-congenital disorder of glycosylation skos:exactMatch UMLS:C2931004 semapv:UnspecifiedMatching MONDO:0011964 DPAGT1-congenital disorder of glycosylation skos:exactMatch mesh:C535748 semapv:UnspecifiedMatching MONDO:0011965 familial temporal lobe epilepsy 2 skos:exactMatch DOID:0060755 familial temporal lobe epilepsy 2 semapv:UnspecifiedMatching MONDO:0011965 familial temporal lobe epilepsy 2 skos:exactMatch MEDGEN:1683026 semapv:UnspecifiedMatching MONDO:0011965 familial temporal lobe epilepsy 2 skos:exactMatch OMIM:608096 epilepsy, familial temporal lobe, 2 semapv:UnspecifiedMatching MONDO:0011965 familial temporal lobe epilepsy 2 skos:exactMatch UMLS:C4759869 semapv:UnspecifiedMatching MONDO:0011965 familial temporal lobe epilepsy 2 skos:exactMatch mesh:C536956 semapv:UnspecifiedMatching MONDO:0011966 periventricular heterotopia with microcephaly, autosomal recessive skos:exactMatch MEDGEN:334110 semapv:UnspecifiedMatching MONDO:0011966 periventricular heterotopia with microcephaly, autosomal recessive skos:exactMatch OMIM:608097 periventricular heterotopia with microcephaly, autosomal recessive semapv:UnspecifiedMatching MONDO:0011966 periventricular heterotopia with microcephaly, autosomal recessive skos:exactMatch UMLS:C1842563 semapv:UnspecifiedMatching MONDO:0011966 periventricular heterotopia with microcephaly, autosomal recessive skos:exactMatch mesh:C564292 semapv:UnspecifiedMatching MONDO:0011967 heterotopia, periventricular, associated with chromosome 5P anomalies skos:exactMatch MEDGEN:374963 semapv:UnspecifiedMatching MONDO:0011967 heterotopia, periventricular, associated with chromosome 5P anomalies skos:exactMatch OMIM:608098 periventricular nodular heterotopia 3 semapv:UnspecifiedMatching MONDO:0011967 heterotopia, periventricular, associated with chromosome 5P anomalies skos:exactMatch UMLS:C1842562 semapv:UnspecifiedMatching MONDO:0011967 heterotopia, periventricular, associated with chromosome 5P anomalies skos:exactMatch mesh:C564291 semapv:UnspecifiedMatching MONDO:0011968 autosomal recessive limb-girdle muscular dystrophy type 2D skos:exactMatch DOID:0110278 autosomal recessive limb-girdle muscular dystrophy type 2D semapv:UnspecifiedMatching MONDO:0011968 autosomal recessive limb-girdle muscular dystrophy type 2D skos:exactMatch MEDGEN:424706 semapv:UnspecifiedMatching MONDO:0011968 autosomal recessive limb-girdle muscular dystrophy type 2D skos:exactMatch NCIT:C142081 Limb-Girdle Muscular Dystrophy Type 2D semapv:UnspecifiedMatching MONDO:0011968 autosomal recessive limb-girdle muscular dystrophy type 2D skos:exactMatch OMIM:608099 muscular dystrophy, limb-girdle, autosomal recessive 3 semapv:UnspecifiedMatching MONDO:0011968 autosomal recessive limb-girdle muscular dystrophy type 2D skos:exactMatch Orphanet:62 Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 semapv:UnspecifiedMatching MONDO:0011968 autosomal recessive limb-girdle muscular dystrophy type 2D skos:exactMatch SCTID:715340002 semapv:UnspecifiedMatching MONDO:0011968 autosomal recessive limb-girdle muscular dystrophy type 2D skos:exactMatch UMLS:C2936332 semapv:UnspecifiedMatching MONDO:0011969 ALG8-congenital disorder of glycosylation skos:exactMatch DOID:0080560 congenital disorder of glycosylation Ih semapv:UnspecifiedMatching MONDO:0011969 ALG8-congenital disorder of glycosylation skos:exactMatch MEDGEN:419692 semapv:UnspecifiedMatching MONDO:0011969 ALG8-congenital disorder of glycosylation skos:exactMatch OMIM:608104 congenital disorder of glycosylation, type ih semapv:UnspecifiedMatching MONDO:0011969 ALG8-congenital disorder of glycosylation skos:exactMatch Orphanet:79325 ALG8-CDG semapv:UnspecifiedMatching MONDO:0011969 ALG8-congenital disorder of glycosylation skos:exactMatch SCTID:720977000 semapv:UnspecifiedMatching MONDO:0011969 ALG8-congenital disorder of glycosylation skos:exactMatch UMLS:C2931002 semapv:UnspecifiedMatching MONDO:0011969 ALG8-congenital disorder of glycosylation skos:exactMatch mesh:C535746 semapv:UnspecifiedMatching MONDO:0011970 rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome skos:exactMatch DOID:0111645 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome semapv:UnspecifiedMatching MONDO:0011970 rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome skos:exactMatch MEDGEN:334104 semapv:UnspecifiedMatching MONDO:0011970 rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome skos:exactMatch OMIM:608105 epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp semapv:UnspecifiedMatching MONDO:0011970 rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome skos:exactMatch Orphanet:163727 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome semapv:UnspecifiedMatching MONDO:0011970 rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome skos:exactMatch UMLS:C1842531 semapv:UnspecifiedMatching MONDO:0011970 rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome skos:exactMatch icd11.foundation:1311096281 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome semapv:UnspecifiedMatching MONDO:0011970 rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome skos:exactMatch mesh:C535499 semapv:UnspecifiedMatching MONDO:0011971 hyper-IgM syndrome type 5 skos:exactMatch DOID:0060759 immunodeficiency with hyper IgM type 5 semapv:UnspecifiedMatching MONDO:0011971 hyper-IgM syndrome type 5 skos:exactMatch MEDGEN:328420 semapv:UnspecifiedMatching MONDO:0011971 hyper-IgM syndrome type 5 skos:exactMatch OMIM:608106 immunodeficiency with hyper-igm, type 5 semapv:UnspecifiedMatching MONDO:0011971 hyper-IgM syndrome type 5 skos:exactMatch Orphanet:101092 Hyper-IgM syndrome type 5 semapv:UnspecifiedMatching MONDO:0011971 hyper-IgM syndrome type 5 skos:exactMatch UMLS:C1720958 semapv:UnspecifiedMatching MONDO:0011972 ovarian hyperstimulation syndrome skos:exactMatch DOID:5425 ovarian hyperstimulation syndrome semapv:UnspecifiedMatching MONDO:0011972 ovarian hyperstimulation syndrome skos:exactMatch MEDGEN:38966 semapv:UnspecifiedMatching MONDO:0011972 ovarian hyperstimulation syndrome skos:exactMatch OMIM:608115 ovarian hyperstimulation syndrome semapv:UnspecifiedMatching MONDO:0011972 ovarian hyperstimulation syndrome skos:exactMatch Orphanet:64739 Ovarian hyperstimulation syndrome semapv:UnspecifiedMatching MONDO:0011972 ovarian hyperstimulation syndrome skos:exactMatch SCTID:129635004 semapv:UnspecifiedMatching MONDO:0011972 ovarian hyperstimulation syndrome skos:exactMatch UMLS:C0085083 semapv:UnspecifiedMatching MONDO:0011972 ovarian hyperstimulation syndrome skos:exactMatch icd11.foundation:1216664013 Ovarian hyperstimulation syndrome semapv:UnspecifiedMatching MONDO:0011972 ovarian hyperstimulation syndrome skos:exactMatch mesh:D016471 semapv:UnspecifiedMatching MONDO:0011973 zinc deficiency, transient neonatal skos:exactMatch MEDGEN:330858 semapv:UnspecifiedMatching MONDO:0011973 zinc deficiency, transient neonatal skos:exactMatch OMIM:608118 zinc deficiency, transient neonatal semapv:UnspecifiedMatching MONDO:0011973 zinc deficiency, transient neonatal skos:exactMatch UMLS:C1842486 semapv:UnspecifiedMatching MONDO:0011973 zinc deficiency, transient neonatal skos:exactMatch mesh:C564286 semapv:UnspecifiedMatching MONDO:0011974 retinitis pigmentosa 7 skos:exactMatch DOID:0110383 retinitis pigmentosa 7 semapv:UnspecifiedMatching MONDO:0011974 retinitis pigmentosa 7 skos:exactMatch MEDGEN:334168 semapv:UnspecifiedMatching MONDO:0011974 retinitis pigmentosa 7 skos:exactMatch OMIM:608133 retinitis pigmentosa 7 semapv:UnspecifiedMatching MONDO:0011974 retinitis pigmentosa 7 skos:exactMatch UMLS:C1842475 semapv:UnspecifiedMatching MONDO:0011975 paternal uniparental disomy of chromosome 14 skos:exactMatch MEDGEN:1843450 semapv:UnspecifiedMatching MONDO:0011975 paternal uniparental disomy of chromosome 14 skos:exactMatch OMIM:608149 kagami-ogata syndrome semapv:UnspecifiedMatching MONDO:0011975 paternal uniparental disomy of chromosome 14 skos:exactMatch Orphanet:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 semapv:UnspecifiedMatching MONDO:0011975 paternal uniparental disomy of chromosome 14 skos:exactMatch UMLS:C5680251 semapv:UnspecifiedMatching MONDO:0011975 paternal uniparental disomy of chromosome 14 skos:exactMatch icd11.foundation:1835121942 Paternal uniparental disomy of chromosome 14 semapv:UnspecifiedMatching MONDO:0011975 paternal uniparental disomy of chromosome 14 skos:exactMatch mesh:C536471 semapv:UnspecifiedMatching MONDO:0011976 lipodystrophy-intellectual disability-deafness syndrome skos:exactMatch MEDGEN:334166 semapv:UnspecifiedMatching MONDO:0011976 lipodystrophy-intellectual disability-deafness syndrome skos:exactMatch OMIM:608154 lipodystrophy, generalized, with impaired intellectual development, deafness, short stature, and slender bones semapv:UnspecifiedMatching MONDO:0011976 lipodystrophy-intellectual disability-deafness syndrome skos:exactMatch Orphanet:50811 Lipodystrophy-intellectual disability-deafness syndrome semapv:UnspecifiedMatching MONDO:0011976 lipodystrophy-intellectual disability-deafness syndrome skos:exactMatch SCTID:721973006 semapv:UnspecifiedMatching MONDO:0011976 lipodystrophy-intellectual disability-deafness syndrome skos:exactMatch UMLS:C1842465 semapv:UnspecifiedMatching MONDO:0011976 lipodystrophy-intellectual disability-deafness syndrome skos:exactMatch mesh:C564283 semapv:UnspecifiedMatching MONDO:0011977 8q22.1 microdeletion syndrome skos:exactMatch MEDGEN:334165 semapv:UnspecifiedMatching MONDO:0011977 8q22.1 microdeletion syndrome skos:exactMatch OMIM:608156 nablus mask-like facial syndrome semapv:UnspecifiedMatching MONDO:0011977 8q22.1 microdeletion syndrome skos:exactMatch Orphanet:178303 8q22.1 microdeletion syndrome semapv:UnspecifiedMatching MONDO:0011977 8q22.1 microdeletion syndrome skos:exactMatch SCTID:719664004 semapv:UnspecifiedMatching MONDO:0011977 8q22.1 microdeletion syndrome skos:exactMatch UMLS:C1842464 semapv:UnspecifiedMatching MONDO:0011977 8q22.1 microdeletion syndrome skos:exactMatch mesh:C536110 semapv:UnspecifiedMatching MONDO:0011978 CoQ-responsive OXPHOS deficiency skos:exactMatch MEDGEN:334164 semapv:UnspecifiedMatching MONDO:0011978 CoQ-responsive OXPHOS deficiency skos:exactMatch OMIM:608158 coq-responsive oxphos deficiency semapv:UnspecifiedMatching MONDO:0011978 CoQ-responsive OXPHOS deficiency skos:exactMatch UMLS:C1842463 semapv:UnspecifiedMatching MONDO:0011978 CoQ-responsive OXPHOS deficiency skos:exactMatch mesh:C535470 semapv:UnspecifiedMatching MONDO:0011979 adult-onset foveomacular vitelliform dystrophy skos:exactMatch MEDGEN:334280 semapv:UnspecifiedMatching MONDO:0011979 adult-onset foveomacular vitelliform dystrophy skos:exactMatch Orphanet:99000 Adult-onset foveomacular vitelliform dystrophy semapv:UnspecifiedMatching MONDO:0011979 adult-onset foveomacular vitelliform dystrophy skos:exactMatch SCTID:232049001 semapv:UnspecifiedMatching MONDO:0011979 adult-onset foveomacular vitelliform dystrophy skos:exactMatch UMLS:C1842914 semapv:UnspecifiedMatching MONDO:0011979 adult-onset foveomacular vitelliform dystrophy skos:exactMatch icd11.foundation:558806410 Adult-onset foveomacular vitelliform dystrophy semapv:UnspecifiedMatching MONDO:0011980 autoimmune thyroid disease, susceptibility to, 1 skos:exactMatch MEDGEN:334160 semapv:UnspecifiedMatching MONDO:0011980 autoimmune thyroid disease, susceptibility to, 1 skos:exactMatch OMIM:608173 autoimmune thyroid disease, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0011980 autoimmune thyroid disease, susceptibility to, 1 skos:exactMatch UMLS:C1842446 semapv:UnspecifiedMatching MONDO:0011981 autoimmune thyroid disease, susceptibility to, 2 skos:exactMatch MEDGEN:334159 semapv:UnspecifiedMatching MONDO:0011981 autoimmune thyroid disease, susceptibility to, 2 skos:exactMatch OMIM:608174 autoimmune thyroid disease, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0011981 autoimmune thyroid disease, susceptibility to, 2 skos:exactMatch UMLS:C1842445 semapv:UnspecifiedMatching MONDO:0011982 autoimmune thyroid disease, susceptibility to, 3 skos:exactMatch MEDGEN:374932 semapv:UnspecifiedMatching MONDO:0011982 autoimmune thyroid disease, susceptibility to, 3 skos:exactMatch OMIM:608175 autoimmune thyroid disease, susceptibility to, 3 semapv:UnspecifiedMatching MONDO:0011982 autoimmune thyroid disease, susceptibility to, 3 skos:exactMatch UMLS:C1842444 semapv:UnspecifiedMatching MONDO:0011983 autoimmune thyroid disease, susceptibility to, 4 skos:exactMatch MEDGEN:334080 semapv:UnspecifiedMatching MONDO:0011983 autoimmune thyroid disease, susceptibility to, 4 skos:exactMatch OMIM:608176 autoimmune thyroid disease, susceptibility to, 4 semapv:UnspecifiedMatching MONDO:0011983 autoimmune thyroid disease, susceptibility to, 4 skos:exactMatch UMLS:C1842443 semapv:UnspecifiedMatching MONDO:0011984 synpolydactyly type 2 skos:exactMatch MEDGEN:331290 semapv:UnspecifiedMatching MONDO:0011984 synpolydactyly type 2 skos:exactMatch OMIM:608180 synpolydactyly 2 semapv:UnspecifiedMatching MONDO:0011984 synpolydactyly type 2 skos:exactMatch Orphanet:295197 Synpolydactyly type 2 semapv:UnspecifiedMatching MONDO:0011984 synpolydactyly type 2 skos:exactMatch UMLS:C1842422 semapv:UnspecifiedMatching MONDO:0011984 synpolydactyly type 2 skos:exactMatch icd11.foundation:1370014661 Synpolydactyly type 2 semapv:UnspecifiedMatching MONDO:0011984 synpolydactyly type 2 skos:exactMatch mesh:C564278 semapv:UnspecifiedMatching MONDO:0011985 hyper-IgM syndrome type 4 skos:exactMatch DOID:0060760 immunodeficiency with hyper-IgM type 4 semapv:UnspecifiedMatching MONDO:0011985 hyper-IgM syndrome type 4 skos:exactMatch MEDGEN:330847 semapv:UnspecifiedMatching MONDO:0011985 hyper-IgM syndrome type 4 skos:exactMatch OMIM:608184 immunodeficiency with hyper-igm, type 4 semapv:UnspecifiedMatching MONDO:0011985 hyper-IgM syndrome type 4 skos:exactMatch Orphanet:101091 Hyper-IgM syndrome type 4 semapv:UnspecifiedMatching MONDO:0011985 hyper-IgM syndrome type 4 skos:exactMatch UMLS:C1842413 semapv:UnspecifiedMatching MONDO:0011985 hyper-IgM syndrome type 4 skos:exactMatch mesh:C564277 semapv:UnspecifiedMatching MONDO:0011986 tropical pancreatitis skos:exactMatch MEDGEN:334069 semapv:UnspecifiedMatching MONDO:0011986 tropical pancreatitis skos:exactMatch OMIM:608189 tropical calcific pancreatitis semapv:UnspecifiedMatching MONDO:0011986 tropical pancreatitis skos:exactMatch Orphanet:103918 Tropical pancreatitis semapv:UnspecifiedMatching MONDO:0011986 tropical pancreatitis skos:exactMatch SCTID:724540009 semapv:UnspecifiedMatching MONDO:0011986 tropical pancreatitis skos:exactMatch UMLS:C1842402 semapv:UnspecifiedMatching MONDO:0011986 tropical pancreatitis skos:exactMatch icd11.foundation:1645607956 Tropical pancreatitis semapv:UnspecifiedMatching MONDO:0011986 tropical pancreatitis skos:exactMatch mesh:C564276 semapv:UnspecifiedMatching MONDO:0011987 cone-rod dystrophy 13 skos:exactMatch DOID:0111016 cone-rod dystrophy 13 semapv:UnspecifiedMatching MONDO:0011987 cone-rod dystrophy 13 skos:exactMatch MEDGEN:413025 semapv:UnspecifiedMatching MONDO:0011987 cone-rod dystrophy 13 skos:exactMatch OMIM:608194 cone-rod dystrophy 13 semapv:UnspecifiedMatching MONDO:0011987 cone-rod dystrophy 13 skos:exactMatch UMLS:C2750720 semapv:UnspecifiedMatching MONDO:0011987 cone-rod dystrophy 13 skos:exactMatch mesh:C567698 semapv:UnspecifiedMatching MONDO:0011988 neutrophil immunodeficiency syndrome skos:exactMatch DOID:0112064 immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis semapv:UnspecifiedMatching MONDO:0011988 neutrophil immunodeficiency syndrome skos:exactMatch MEDGEN:374920 semapv:UnspecifiedMatching MONDO:0011988 neutrophil immunodeficiency syndrome skos:exactMatch OMIM:608203 immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis semapv:UnspecifiedMatching MONDO:0011988 neutrophil immunodeficiency syndrome skos:exactMatch Orphanet:183707 Infantile LAD-like disease due to RAC2 deficiency semapv:UnspecifiedMatching MONDO:0011988 neutrophil immunodeficiency syndrome skos:exactMatch SCTID:723443003 semapv:UnspecifiedMatching MONDO:0011988 neutrophil immunodeficiency syndrome skos:exactMatch UMLS:C1842398 semapv:UnspecifiedMatching MONDO:0011988 neutrophil immunodeficiency syndrome skos:exactMatch icd11.foundation:1459690929 Neutrophil immunodeficiency syndrome semapv:UnspecifiedMatching MONDO:0011988 neutrophil immunodeficiency syndrome skos:exactMatch mesh:C564275 semapv:UnspecifiedMatching MONDO:0011989 leishmaniasis skos:exactMatch DOID:9065 leishmaniasis semapv:UnspecifiedMatching MONDO:0011989 leishmaniasis skos:exactMatch EFO:0005044 semapv:UnspecifiedMatching MONDO:0011989 leishmaniasis skos:exactMatch ICD10CM:B55 Leishmaniasis semapv:UnspecifiedMatching MONDO:0011989 leishmaniasis skos:exactMatch ICD10WHO:B55 Leishmaniasis semapv:UnspecifiedMatching MONDO:0011989 leishmaniasis skos:exactMatch MEDGEN:9714 semapv:UnspecifiedMatching MONDO:0011989 leishmaniasis skos:exactMatch NCIT:C34767 Leishmaniasis semapv:UnspecifiedMatching MONDO:0011989 leishmaniasis skos:exactMatch Orphanet:507 Leishmaniasis semapv:UnspecifiedMatching MONDO:0011989 leishmaniasis skos:exactMatch SCTID:80612004 semapv:UnspecifiedMatching MONDO:0011989 leishmaniasis skos:exactMatch UMLS:C0023281 semapv:UnspecifiedMatching MONDO:0011989 leishmaniasis skos:exactMatch icd11.foundation:1082373067 Leishmaniasis semapv:UnspecifiedMatching MONDO:0011989 leishmaniasis skos:exactMatch mesh:D007896 semapv:UnspecifiedMatching MONDO:0011990 seizures, benign familial neonatal, 3 skos:exactMatch MEDGEN:334063 semapv:UnspecifiedMatching MONDO:0011990 seizures, benign familial neonatal, 3 skos:exactMatch OMIM:608217 seizures, benign familial neonatal, 3 semapv:UnspecifiedMatching MONDO:0011990 seizures, benign familial neonatal, 3 skos:exactMatch UMLS:C1842382 semapv:UnspecifiedMatching MONDO:0011990 seizures, benign familial neonatal, 3 skos:exactMatch mesh:C564274 semapv:UnspecifiedMatching MONDO:0011991 autosomal recessive nonsyndromic hearing loss 38 skos:exactMatch DOID:0110496 autosomal recessive nonsyndromic deafness 38 semapv:UnspecifiedMatching MONDO:0011991 autosomal recessive nonsyndromic hearing loss 38 skos:exactMatch MEDGEN:330838 semapv:UnspecifiedMatching MONDO:0011991 autosomal recessive nonsyndromic hearing loss 38 skos:exactMatch OMIM:608219 deafness, autosomal recessive 38 semapv:UnspecifiedMatching MONDO:0011991 autosomal recessive nonsyndromic hearing loss 38 skos:exactMatch UMLS:C1842381 semapv:UnspecifiedMatching MONDO:0011991 autosomal recessive nonsyndromic hearing loss 38 skos:exactMatch mesh:C564273 semapv:UnspecifiedMatching MONDO:0011992 hereditary spastic paraplegia 25 skos:exactMatch DOID:0110776 hereditary spastic paraplegia 25 semapv:UnspecifiedMatching MONDO:0011992 hereditary spastic paraplegia 25 skos:exactMatch MEDGEN:424835 semapv:UnspecifiedMatching MONDO:0011992 hereditary spastic paraplegia 25 skos:exactMatch OMIM:608220 spastic paraplegia 25, autosomal recessive semapv:UnspecifiedMatching MONDO:0011992 hereditary spastic paraplegia 25 skos:exactMatch Orphanet:101005 Autosomal recessive spastic paraplegia type 25 semapv:UnspecifiedMatching MONDO:0011992 hereditary spastic paraplegia 25 skos:exactMatch SCTID:732933009 semapv:UnspecifiedMatching MONDO:0011992 hereditary spastic paraplegia 25 skos:exactMatch UMLS:C2936860 semapv:UnspecifiedMatching MONDO:0011992 hereditary spastic paraplegia 25 skos:exactMatch mesh:C536861 semapv:UnspecifiedMatching MONDO:0011993 aspirin resistance skos:exactMatch MEDGEN:330835 semapv:UnspecifiedMatching MONDO:0011993 aspirin resistance skos:exactMatch OMIM:608223 aspirin resistance semapv:UnspecifiedMatching MONDO:0011993 aspirin resistance skos:exactMatch UMLS:C1842372 semapv:UnspecifiedMatching MONDO:0011994 autosomal dominant nonsyndromic hearing loss 41 skos:exactMatch DOID:0110567 autosomal dominant nonsyndromic deafness 41 semapv:UnspecifiedMatching MONDO:0011994 autosomal dominant nonsyndromic hearing loss 41 skos:exactMatch MEDGEN:330834 semapv:UnspecifiedMatching MONDO:0011994 autosomal dominant nonsyndromic hearing loss 41 skos:exactMatch OMIM:608224 deafness, autosomal dominant 41 semapv:UnspecifiedMatching MONDO:0011994 autosomal dominant nonsyndromic hearing loss 41 skos:exactMatch UMLS:C1842371 semapv:UnspecifiedMatching MONDO:0011994 autosomal dominant nonsyndromic hearing loss 41 skos:exactMatch mesh:C564272 semapv:UnspecifiedMatching MONDO:0011995 cataract - congenital heart disease - neural tube defect syndrome skos:exactMatch MEDGEN:330832 semapv:UnspecifiedMatching MONDO:0011995 cataract - congenital heart disease - neural tube defect syndrome skos:exactMatch OMIM:608227 craniofacial abnormalities, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation semapv:UnspecifiedMatching MONDO:0011995 cataract - congenital heart disease - neural tube defect syndrome skos:exactMatch Orphanet:314993 Cataract-congenital heart disease-neural tube defect syndrome semapv:UnspecifiedMatching MONDO:0011995 cataract - congenital heart disease - neural tube defect syndrome skos:exactMatch UMLS:C1842363 semapv:UnspecifiedMatching MONDO:0011995 cataract - congenital heart disease - neural tube defect syndrome skos:exactMatch mesh:C564271 semapv:UnspecifiedMatching MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive skos:exactMatch DOID:0081088 chronic myelogenous leukemia, BCR-ABL1 positive semapv:UnspecifiedMatching MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive skos:exactMatch DOID:8552 chronic myeloid leukemia semapv:UnspecifiedMatching MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive skos:exactMatch EFO:0000339 semapv:UnspecifiedMatching MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive skos:exactMatch MEDGEN:75993 semapv:UnspecifiedMatching MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive skos:exactMatch NCIT:C3174 Chronic Myeloid Leukemia, BCR-ABL1 Positive semapv:UnspecifiedMatching MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive skos:exactMatch OMIM:608232 leukemia, chronic myeloid semapv:UnspecifiedMatching MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive skos:exactMatch Orphanet:521 Chronic myeloid leukemia semapv:UnspecifiedMatching MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive skos:exactMatch UMLS:C0279543 semapv:UnspecifiedMatching MONDO:0011997 Hermansky-Pudlak syndrome 2 skos:exactMatch DOID:0060540 Hermansky-Pudlak syndrome 2 semapv:UnspecifiedMatching MONDO:0011997 Hermansky-Pudlak syndrome 2 skos:exactMatch MEDGEN:374912 semapv:UnspecifiedMatching MONDO:0011997 Hermansky-Pudlak syndrome 2 skos:exactMatch NCIT:C150368 Hermansky-Pudlak Syndrome 2 semapv:UnspecifiedMatching MONDO:0011997 Hermansky-Pudlak syndrome 2 skos:exactMatch OMIM:608233 hermansky-pudlak syndrome 2 semapv:UnspecifiedMatching MONDO:0011997 Hermansky-Pudlak syndrome 2 skos:exactMatch Orphanet:183678 Hermansky-Pudlak syndrome due to AP-3 deficiency semapv:UnspecifiedMatching MONDO:0011997 Hermansky-Pudlak syndrome 2 skos:exactMatch Orphanet:664500 Hermansky-Pudlak syndrome due to AP3B1 deficiency semapv:UnspecifiedMatching MONDO:0011997 Hermansky-Pudlak syndrome 2 skos:exactMatch UMLS:C1842362 semapv:UnspecifiedMatching MONDO:0011997 Hermansky-Pudlak syndrome 2 skos:exactMatch mesh:C537709 semapv:UnspecifiedMatching MONDO:0011998 autosomal dominant slowed nerve conduction velocity skos:exactMatch MEDGEN:330829 semapv:UnspecifiedMatching MONDO:0011998 autosomal dominant slowed nerve conduction velocity skos:exactMatch OMIM:608236 slowed nerve conduction velocity, autosomal dominant semapv:UnspecifiedMatching MONDO:0011998 autosomal dominant slowed nerve conduction velocity skos:exactMatch Orphanet:140481 Autosomal dominant slowed nerve conduction velocity semapv:UnspecifiedMatching MONDO:0011998 autosomal dominant slowed nerve conduction velocity skos:exactMatch SCTID:764854006 semapv:UnspecifiedMatching MONDO:0011998 autosomal dominant slowed nerve conduction velocity skos:exactMatch UMLS:C1842357 semapv:UnspecifiedMatching MONDO:0011998 autosomal dominant slowed nerve conduction velocity skos:exactMatch mesh:C564269 semapv:UnspecifiedMatching MONDO:0011999 otosclerosis 3 skos:exactMatch DOID:0060922 otosclerosis 3 semapv:UnspecifiedMatching MONDO:0011999 otosclerosis 3 skos:exactMatch MEDGEN:334054 semapv:UnspecifiedMatching MONDO:0011999 otosclerosis 3 skos:exactMatch OMIM:608244 otosclerosis 3 semapv:UnspecifiedMatching MONDO:0011999 otosclerosis 3 skos:exactMatch UMLS:C1842353 semapv:UnspecifiedMatching MONDO:0011999 otosclerosis 3 skos:exactMatch mesh:C564268 semapv:UnspecifiedMatching MONDO:0012000 specific phobia skos:exactMatch DOID:599 specific phobia semapv:UnspecifiedMatching MONDO:0012000 specific phobia skos:exactMatch EFO:1001918 semapv:UnspecifiedMatching MONDO:0012000 specific phobia skos:exactMatch MEDGEN:65932 semapv:UnspecifiedMatching MONDO:0012000 specific phobia skos:exactMatch NCIT:C35284 Specific Phobia semapv:UnspecifiedMatching MONDO:0012000 specific phobia skos:exactMatch OMIM:608251 phobia, specific semapv:UnspecifiedMatching MONDO:0012000 specific phobia skos:exactMatch SCTID:54587008 semapv:UnspecifiedMatching MONDO:0012000 specific phobia skos:exactMatch UMLS:C0236801 semapv:UnspecifiedMatching MONDO:0012000 specific phobia skos:exactMatch icd11.foundation:239513569 Specific phobia semapv:UnspecifiedMatching MONDO:0012000 specific phobia skos:exactMatch mesh:C562465 semapv:UnspecifiedMatching MONDO:0012001 mandibulofacial dysostosis with ptosis, autosomal dominant skos:exactMatch MEDGEN:331276 semapv:UnspecifiedMatching MONDO:0012001 mandibulofacial dysostosis with ptosis, autosomal dominant skos:exactMatch OMIM:608257 mandibulofacial dysostosis with ptosis, autosomal dominant semapv:UnspecifiedMatching MONDO:0012001 mandibulofacial dysostosis with ptosis, autosomal dominant skos:exactMatch UMLS:C1842349 semapv:UnspecifiedMatching MONDO:0012001 mandibulofacial dysostosis with ptosis, autosomal dominant skos:exactMatch mesh:C564267 semapv:UnspecifiedMatching MONDO:0012002 autosomal recessive nonsyndromic hearing loss 40 skos:exactMatch DOID:0110499 autosomal recessive nonsyndromic deafness 40 semapv:UnspecifiedMatching MONDO:0012002 autosomal recessive nonsyndromic hearing loss 40 skos:exactMatch MEDGEN:334053 semapv:UnspecifiedMatching MONDO:0012002 autosomal recessive nonsyndromic hearing loss 40 skos:exactMatch OMIM:608264 deafness, autosomal recessive 40 semapv:UnspecifiedMatching MONDO:0012002 autosomal recessive nonsyndromic hearing loss 40 skos:exactMatch UMLS:C1842345 semapv:UnspecifiedMatching MONDO:0012002 autosomal recessive nonsyndromic hearing loss 40 skos:exactMatch mesh:C564266 semapv:UnspecifiedMatching MONDO:0012003 autosomal recessive nonsyndromic hearing loss 39 skos:exactMatch DOID:0110497 autosomal recessive nonsyndromic deafness 39 semapv:UnspecifiedMatching MONDO:0012003 autosomal recessive nonsyndromic hearing loss 39 skos:exactMatch MEDGEN:374909 semapv:UnspecifiedMatching MONDO:0012003 autosomal recessive nonsyndromic hearing loss 39 skos:exactMatch NCIT:C129874 Deafness, Autosomal Recessive 39 semapv:UnspecifiedMatching MONDO:0012003 autosomal recessive nonsyndromic hearing loss 39 skos:exactMatch OMIM:608265 deafness, autosomal recessive 39 semapv:UnspecifiedMatching MONDO:0012003 autosomal recessive nonsyndromic hearing loss 39 skos:exactMatch UMLS:C1842342 semapv:UnspecifiedMatching MONDO:0012003 autosomal recessive nonsyndromic hearing loss 39 skos:exactMatch mesh:C564265 semapv:UnspecifiedMatching MONDO:0012004 parathyroid gland carcinoma skos:exactMatch DOID:1540 parathyroid carcinoma semapv:UnspecifiedMatching MONDO:0012004 parathyroid gland carcinoma skos:exactMatch EFO:1000456 semapv:UnspecifiedMatching MONDO:0012004 parathyroid gland carcinoma skos:exactMatch MEDGEN:146361 semapv:UnspecifiedMatching MONDO:0012004 parathyroid gland carcinoma skos:exactMatch NCIT:C4906 Parathyroid Gland Carcinoma semapv:UnspecifiedMatching MONDO:0012004 parathyroid gland carcinoma skos:exactMatch OMIM:608266 parathyroid carcinoma semapv:UnspecifiedMatching MONDO:0012004 parathyroid gland carcinoma skos:exactMatch Orphanet:143 Parathyroid carcinoma semapv:UnspecifiedMatching MONDO:0012004 parathyroid gland carcinoma skos:exactMatch SCTID:255037004 semapv:UnspecifiedMatching MONDO:0012004 parathyroid gland carcinoma skos:exactMatch UMLS:C0687150 semapv:UnspecifiedMatching MONDO:0012005 growth failure, microcephaly, intellectual disability, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy skos:exactMatch MEDGEN:330820 semapv:UnspecifiedMatching MONDO:0012005 growth failure, microcephaly, intellectual disability, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy skos:exactMatch OMIM:608278 growth failure, microcephaly, impaired intellectual development, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy semapv:UnspecifiedMatching MONDO:0012005 growth failure, microcephaly, intellectual disability, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy skos:exactMatch UMLS:C1842321 semapv:UnspecifiedMatching MONDO:0012005 growth failure, microcephaly, intellectual disability, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy skos:exactMatch mesh:C564264 semapv:UnspecifiedMatching MONDO:0012006 craniosynostosis with ocular abnormalities and hallucal defects skos:exactMatch MEDGEN:331266 semapv:UnspecifiedMatching MONDO:0012006 craniosynostosis with ocular abnormalities and hallucal defects skos:exactMatch OMIM:608279 craniosynostosis with ocular abnormalities and hallucal defects semapv:UnspecifiedMatching MONDO:0012006 craniosynostosis with ocular abnormalities and hallucal defects skos:exactMatch UMLS:C1842316 semapv:UnspecifiedMatching MONDO:0012006 craniosynostosis with ocular abnormalities and hallucal defects skos:exactMatch mesh:C564263 semapv:UnspecifiedMatching MONDO:0012007 scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities skos:exactMatch MEDGEN:331265 semapv:UnspecifiedMatching MONDO:0012007 scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities skos:exactMatch OMIM:608281 scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities semapv:UnspecifiedMatching MONDO:0012007 scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities skos:exactMatch UMLS:C1842315 semapv:UnspecifiedMatching MONDO:0012007 scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities skos:exactMatch mesh:C564262 semapv:UnspecifiedMatching MONDO:0012008 Lelis syndrome skos:exactMatch MEDGEN:334042 semapv:UnspecifiedMatching MONDO:0012008 Lelis syndrome skos:exactMatch OMIM:608290 lelis syndrome semapv:UnspecifiedMatching MONDO:0012008 Lelis syndrome skos:exactMatch Orphanet:140936 Lelis syndrome semapv:UnspecifiedMatching MONDO:0012008 Lelis syndrome skos:exactMatch SCTID:719429003 semapv:UnspecifiedMatching MONDO:0012008 Lelis syndrome skos:exactMatch UMLS:C1842307 semapv:UnspecifiedMatching MONDO:0012008 Lelis syndrome skos:exactMatch mesh:C564261 semapv:UnspecifiedMatching MONDO:0012009 coronary heart disease, susceptibility to, 2 skos:exactMatch MEDGEN:330807 semapv:UnspecifiedMatching MONDO:0012009 coronary heart disease, susceptibility to, 2 skos:exactMatch OMIM:608316 coronary heart disease, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0012009 coronary heart disease, susceptibility to, 2 skos:exactMatch UMLS:C1842260 semapv:UnspecifiedMatching MONDO:0012010 coronary heart disease, susceptibility to, 4 skos:exactMatch MEDGEN:374891 semapv:UnspecifiedMatching MONDO:0012010 coronary heart disease, susceptibility to, 4 skos:exactMatch OMIM:608318 coronary heart disease, susceptibility to, 4 semapv:UnspecifiedMatching MONDO:0012010 coronary heart disease, susceptibility to, 4 skos:exactMatch UMLS:C1842258 semapv:UnspecifiedMatching MONDO:0012011 coronary artery disease, autosomal dominant, 1 skos:exactMatch MEDGEN:330802 semapv:UnspecifiedMatching MONDO:0012011 coronary artery disease, autosomal dominant, 1 skos:exactMatch OMIM:608320 coronary artery disease, autosomal dominant, 1 semapv:UnspecifiedMatching MONDO:0012011 coronary artery disease, autosomal dominant, 1 skos:exactMatch UMLS:C1842247 semapv:UnspecifiedMatching MONDO:0012011 coronary artery disease, autosomal dominant, 1 skos:exactMatch mesh:C564258 semapv:UnspecifiedMatching MONDO:0012012 Charcot-Marie-Tooth disease dominant intermediate C skos:exactMatch DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C semapv:UnspecifiedMatching MONDO:0012012 Charcot-Marie-Tooth disease dominant intermediate C skos:exactMatch MEDGEN:334023 semapv:UnspecifiedMatching MONDO:0012012 Charcot-Marie-Tooth disease dominant intermediate C skos:exactMatch OMIM:608323 charcot-marie-tooth disease, dominant intermediate c semapv:UnspecifiedMatching MONDO:0012012 Charcot-Marie-Tooth disease dominant intermediate C skos:exactMatch Orphanet:100045 Autosomal dominant intermediate Charcot-Marie-Tooth disease type C semapv:UnspecifiedMatching MONDO:0012012 Charcot-Marie-Tooth disease dominant intermediate C skos:exactMatch SCTID:765746008 semapv:UnspecifiedMatching MONDO:0012012 Charcot-Marie-Tooth disease dominant intermediate C skos:exactMatch UMLS:C1842237 semapv:UnspecifiedMatching MONDO:0012012 Charcot-Marie-Tooth disease dominant intermediate C skos:exactMatch mesh:C564257 semapv:UnspecifiedMatching MONDO:0012013 Weill-Marchesani syndrome 2, dominant skos:exactMatch MEDGEN:358388 semapv:UnspecifiedMatching MONDO:0012013 Weill-Marchesani syndrome 2, dominant skos:exactMatch OMIM:608328 weill-marchesani syndrome 2 semapv:UnspecifiedMatching MONDO:0012013 Weill-Marchesani syndrome 2, dominant skos:exactMatch Orphanet:2084 Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome semapv:UnspecifiedMatching MONDO:0012013 Weill-Marchesani syndrome 2, dominant skos:exactMatch SCTID:722450007 semapv:UnspecifiedMatching MONDO:0012013 Weill-Marchesani syndrome 2, dominant skos:exactMatch UMLS:C1869115 semapv:UnspecifiedMatching MONDO:0012014 Charcot-Marie-Tooth disease recessive intermediate A skos:exactMatch DOID:0110201 Charcot-Marie-Tooth disease recessive intermediate A semapv:UnspecifiedMatching MONDO:0012014 Charcot-Marie-Tooth disease recessive intermediate A skos:exactMatch MEDGEN:334012 semapv:UnspecifiedMatching MONDO:0012014 Charcot-Marie-Tooth disease recessive intermediate A skos:exactMatch OMIM:608340 charcot-marie-tooth disease, recessive intermediate a semapv:UnspecifiedMatching MONDO:0012014 Charcot-Marie-Tooth disease recessive intermediate A skos:exactMatch Orphanet:217055 Autosomal recessive intermediate Charcot-Marie-Tooth disease type A semapv:UnspecifiedMatching MONDO:0012014 Charcot-Marie-Tooth disease recessive intermediate A skos:exactMatch UMLS:C1842197 semapv:UnspecifiedMatching MONDO:0012014 Charcot-Marie-Tooth disease recessive intermediate A skos:exactMatch mesh:C564256 semapv:UnspecifiedMatching MONDO:0012015 nystagmus 3, congenital, autosomal dominant skos:exactMatch DOID:0111793 congenital nystagmus 3 semapv:UnspecifiedMatching MONDO:0012015 nystagmus 3, congenital, autosomal dominant skos:exactMatch MEDGEN:374873 semapv:UnspecifiedMatching MONDO:0012015 nystagmus 3, congenital, autosomal dominant skos:exactMatch OMIM:608345 nystagmus 3, congenital, autosomal dominant semapv:UnspecifiedMatching MONDO:0012015 nystagmus 3, congenital, autosomal dominant skos:exactMatch UMLS:C1842186 semapv:UnspecifiedMatching MONDO:0012015 nystagmus 3, congenital, autosomal dominant skos:exactMatch mesh:C537855 semapv:UnspecifiedMatching MONDO:0012016 capillary malformation-arteriovenous malformation syndrome skos:exactMatch MEDGEN:334007 semapv:UnspecifiedMatching MONDO:0012016 capillary malformation-arteriovenous malformation syndrome skos:exactMatch NCIT:C179668 Capillary Malformation-Arteriovenous Malformation Syndrome semapv:UnspecifiedMatching MONDO:0012016 capillary malformation-arteriovenous malformation syndrome skos:exactMatch OMIMPS:608354 Capillary malformation-arteriovenous malformation semapv:UnspecifiedMatching MONDO:0012016 capillary malformation-arteriovenous malformation syndrome skos:exactMatch Orphanet:137667 Capillary malformation-arteriovenous malformation semapv:UnspecifiedMatching MONDO:0012016 capillary malformation-arteriovenous malformation syndrome skos:exactMatch SCTID:703533007 semapv:UnspecifiedMatching MONDO:0012016 capillary malformation-arteriovenous malformation syndrome skos:exactMatch UMLS:C1842180 semapv:UnspecifiedMatching MONDO:0012016 capillary malformation-arteriovenous malformation syndrome skos:exactMatch mesh:C564254 semapv:UnspecifiedMatching MONDO:0012019 spondyloepiphyseal dysplasia, Kimberley type skos:exactMatch DOID:0112282 spondyloepiphyseal dysplasia Kimberley type semapv:UnspecifiedMatching MONDO:0012019 spondyloepiphyseal dysplasia, Kimberley type skos:exactMatch MEDGEN:330777 semapv:UnspecifiedMatching MONDO:0012019 spondyloepiphyseal dysplasia, Kimberley type skos:exactMatch OMIM:608361 spondyloepiphyseal dysplasia, kimberley type semapv:UnspecifiedMatching MONDO:0012019 spondyloepiphyseal dysplasia, Kimberley type skos:exactMatch Orphanet:93283 Spondyloepiphyseal dysplasia, Kimberley type semapv:UnspecifiedMatching MONDO:0012019 spondyloepiphyseal dysplasia, Kimberley type skos:exactMatch SCTID:719203001 semapv:UnspecifiedMatching MONDO:0012019 spondyloepiphyseal dysplasia, Kimberley type skos:exactMatch UMLS:C1842149 semapv:UnspecifiedMatching MONDO:0012019 spondyloepiphyseal dysplasia, Kimberley type skos:exactMatch icd11.foundation:485470320 Spondyloepiphyseal dysplasia, Kimberley type semapv:UnspecifiedMatching MONDO:0012019 spondyloepiphyseal dysplasia, Kimberley type skos:exactMatch mesh:C564252 semapv:UnspecifiedMatching MONDO:0012020 chromosome 22q11.2 microduplication syndrome skos:exactMatch DOID:0060436 chromosome 22q11.2 microduplication syndrome semapv:UnspecifiedMatching MONDO:0012020 chromosome 22q11.2 microduplication syndrome skos:exactMatch MEDGEN:436417 semapv:UnspecifiedMatching MONDO:0012020 chromosome 22q11.2 microduplication syndrome skos:exactMatch OMIM:608363 chromosome 22q11.2 duplication syndrome semapv:UnspecifiedMatching MONDO:0012020 chromosome 22q11.2 microduplication syndrome skos:exactMatch Orphanet:1727 22q11.2 duplication syndrome semapv:UnspecifiedMatching MONDO:0012020 chromosome 22q11.2 microduplication syndrome skos:exactMatch SCTID:699311001 semapv:UnspecifiedMatching MONDO:0012020 chromosome 22q11.2 microduplication syndrome skos:exactMatch UMLS:C2675369 semapv:UnspecifiedMatching MONDO:0012020 chromosome 22q11.2 microduplication syndrome skos:exactMatch mesh:C567224 semapv:UnspecifiedMatching MONDO:0012021 myopia 17, autosomal dominant skos:exactMatch MEDGEN:854818 semapv:UnspecifiedMatching MONDO:0012021 myopia 17, autosomal dominant skos:exactMatch OMIM:608367 myopia 17, autosomal dominant semapv:UnspecifiedMatching MONDO:0012021 myopia 17, autosomal dominant skos:exactMatch UMLS:C3888211 semapv:UnspecifiedMatching MONDO:0012022 orofacial cleft 4 skos:exactMatch DOID:0080398 orofacial cleft 4 semapv:UnspecifiedMatching MONDO:0012022 orofacial cleft 4 skos:exactMatch MEDGEN:331228 semapv:UnspecifiedMatching MONDO:0012022 orofacial cleft 4 skos:exactMatch OMIM:608371 orofacial cleft 4 semapv:UnspecifiedMatching MONDO:0012022 orofacial cleft 4 skos:exactMatch UMLS:C1842143 semapv:UnspecifiedMatching MONDO:0012022 orofacial cleft 4 skos:exactMatch mesh:C564251 semapv:UnspecifiedMatching MONDO:0012023 autosomal dominant nonsyndromic hearing loss 49 skos:exactMatch DOID:0110572 autosomal dominant nonsyndromic deafness 49 semapv:UnspecifiedMatching MONDO:0012023 autosomal dominant nonsyndromic hearing loss 49 skos:exactMatch MEDGEN:331222 semapv:UnspecifiedMatching MONDO:0012023 autosomal dominant nonsyndromic hearing loss 49 skos:exactMatch OMIM:608372 deafness, autosomal dominant 49 semapv:UnspecifiedMatching MONDO:0012023 autosomal dominant nonsyndromic hearing loss 49 skos:exactMatch UMLS:C1842136 semapv:UnspecifiedMatching MONDO:0012023 autosomal dominant nonsyndromic hearing loss 49 skos:exactMatch mesh:C564250 semapv:UnspecifiedMatching MONDO:0012024 retinitis pigmentosa 26 skos:exactMatch DOID:0110368 retinitis pigmentosa 26 semapv:UnspecifiedMatching MONDO:0012024 retinitis pigmentosa 26 skos:exactMatch MEDGEN:333996 semapv:UnspecifiedMatching MONDO:0012024 retinitis pigmentosa 26 skos:exactMatch OMIM:608380 retinitis pigmentosa 26 semapv:UnspecifiedMatching MONDO:0012024 retinitis pigmentosa 26 skos:exactMatch UMLS:C1842127 semapv:UnspecifiedMatching MONDO:0012024 retinitis pigmentosa 26 skos:exactMatch mesh:C564249 semapv:UnspecifiedMatching MONDO:0012025 branchiootic syndrome 3 skos:exactMatch DOID:0061210 branchiootic syndrome 3 semapv:UnspecifiedMatching MONDO:0012025 branchiootic syndrome 3 skos:exactMatch MEDGEN:333995 semapv:UnspecifiedMatching MONDO:0012025 branchiootic syndrome 3 skos:exactMatch OMIM:608389 branchiootic syndrome 3 semapv:UnspecifiedMatching MONDO:0012025 branchiootic syndrome 3 skos:exactMatch UMLS:C1842124 semapv:UnspecifiedMatching MONDO:0012025 branchiootic syndrome 3 skos:exactMatch mesh:C564248 semapv:UnspecifiedMatching MONDO:0012027 autoimmune disease, susceptibility to, 2 skos:exactMatch MEDGEN:331217 semapv:UnspecifiedMatching MONDO:0012027 autoimmune disease, susceptibility to, 2 skos:exactMatch OMIM:608391 autoimmune disease, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0012027 autoimmune disease, susceptibility to, 2 skos:exactMatch UMLS:C1842113 semapv:UnspecifiedMatching MONDO:0012028 autoimmune disease, susceptibility to, 3 skos:exactMatch MEDGEN:333993 semapv:UnspecifiedMatching MONDO:0012028 autoimmune disease, susceptibility to, 3 skos:exactMatch OMIM:608392 autoimmune disease, susceptibility to, 3 semapv:UnspecifiedMatching MONDO:0012028 autoimmune disease, susceptibility to, 3 skos:exactMatch UMLS:C1842112 semapv:UnspecifiedMatching MONDO:0012029 microcephaly 6, primary, autosomal recessive skos:exactMatch DOID:0070290 primary autosomal recessive microcephaly 6 semapv:UnspecifiedMatching MONDO:0012029 microcephaly 6, primary, autosomal recessive skos:exactMatch MEDGEN:330770 semapv:UnspecifiedMatching MONDO:0012029 microcephaly 6, primary, autosomal recessive skos:exactMatch OMIM:608393 microcephaly 6, primary, autosomal recessive semapv:UnspecifiedMatching MONDO:0012029 microcephaly 6, primary, autosomal recessive skos:exactMatch UMLS:C1842109 semapv:UnspecifiedMatching MONDO:0012029 microcephaly 6, primary, autosomal recessive skos:exactMatch mesh:C564247 semapv:UnspecifiedMatching MONDO:0012030 autosomal dominant nonsyndromic hearing loss 43 skos:exactMatch DOID:0110568 autosomal dominant nonsyndromic deafness 43 semapv:UnspecifiedMatching MONDO:0012030 autosomal dominant nonsyndromic hearing loss 43 skos:exactMatch MEDGEN:330769 semapv:UnspecifiedMatching MONDO:0012030 autosomal dominant nonsyndromic hearing loss 43 skos:exactMatch OMIM:608394 deafness, autosomal dominant 43 semapv:UnspecifiedMatching MONDO:0012030 autosomal dominant nonsyndromic hearing loss 43 skos:exactMatch UMLS:C1842108 semapv:UnspecifiedMatching MONDO:0012030 autosomal dominant nonsyndromic hearing loss 43 skos:exactMatch mesh:C564246 semapv:UnspecifiedMatching MONDO:0012031 platelet-type bleeding disorder 10 skos:exactMatch DOID:0111046 platelet-type bleeding disorder 10 semapv:UnspecifiedMatching MONDO:0012031 platelet-type bleeding disorder 10 skos:exactMatch MEDGEN:374856 semapv:UnspecifiedMatching MONDO:0012031 platelet-type bleeding disorder 10 skos:exactMatch OMIM:608404 platelet glycoprotein 4 deficiency semapv:UnspecifiedMatching MONDO:0012031 platelet-type bleeding disorder 10 skos:exactMatch UMLS:C1842090 semapv:UnspecifiedMatching MONDO:0012031 platelet-type bleeding disorder 10 skos:exactMatch mesh:C564245 semapv:UnspecifiedMatching MONDO:0012032 Braddock syndrome skos:exactMatch MEDGEN:333986 semapv:UnspecifiedMatching MONDO:0012032 Braddock syndrome skos:exactMatch OMIM:608406 vater-like defects with pulmonary hypertension, laryngeal webs, and growth deficiency semapv:UnspecifiedMatching MONDO:0012032 Braddock syndrome skos:exactMatch Orphanet:52047 Braddock syndrome semapv:UnspecifiedMatching MONDO:0012032 Braddock syndrome skos:exactMatch SCTID:720575002 semapv:UnspecifiedMatching MONDO:0012032 Braddock syndrome skos:exactMatch UMLS:C1842082 semapv:UnspecifiedMatching MONDO:0012032 Braddock syndrome skos:exactMatch mesh:C564244 semapv:UnspecifiedMatching MONDO:0012033 bradyopsia skos:exactMatch DOID:0050335 bradyopsia semapv:UnspecifiedMatching MONDO:0012033 bradyopsia skos:exactMatch MEDGEN:331206 semapv:UnspecifiedMatching MONDO:0012033 bradyopsia skos:exactMatch OMIMPS:608415 Prolonged electroretinal response suppression semapv:UnspecifiedMatching MONDO:0012033 bradyopsia skos:exactMatch Orphanet:75374 Bradyopsia semapv:UnspecifiedMatching MONDO:0012033 bradyopsia skos:exactMatch SCTID:711163009 semapv:UnspecifiedMatching MONDO:0012033 bradyopsia skos:exactMatch UMLS:C1842073 semapv:UnspecifiedMatching MONDO:0012033 bradyopsia skos:exactMatch icd11.foundation:1497247503 Bradyopsia semapv:UnspecifiedMatching MONDO:0012033 bradyopsia skos:exactMatch mesh:C564243 semapv:UnspecifiedMatching MONDO:0012034 autosomal dominant limb-girdle muscular dystrophy type 1F skos:exactMatch DOID:0110304 autosomal dominant limb-girdle muscular dystrophy type 2 semapv:UnspecifiedMatching MONDO:0012034 autosomal dominant limb-girdle muscular dystrophy type 1F skos:exactMatch MEDGEN:333983 semapv:UnspecifiedMatching MONDO:0012034 autosomal dominant limb-girdle muscular dystrophy type 1F skos:exactMatch OMIM:608423 muscular dystrophy, limb-girdle, autosomal dominant 2 semapv:UnspecifiedMatching MONDO:0012034 autosomal dominant limb-girdle muscular dystrophy type 1F skos:exactMatch Orphanet:55595 TNP03-related limb-girdle muscular dystrophy D2 semapv:UnspecifiedMatching MONDO:0012034 autosomal dominant limb-girdle muscular dystrophy type 1F skos:exactMatch SCTID:719989007 semapv:UnspecifiedMatching MONDO:0012034 autosomal dominant limb-girdle muscular dystrophy type 1F skos:exactMatch UMLS:C1842062 semapv:UnspecifiedMatching MONDO:0012034 autosomal dominant limb-girdle muscular dystrophy type 1F skos:exactMatch mesh:C564242 semapv:UnspecifiedMatching MONDO:0012035 craniosynostosis-intracranial calcifications syndrome skos:exactMatch MEDGEN:333981 semapv:UnspecifiedMatching MONDO:0012035 craniosynostosis-intracranial calcifications syndrome skos:exactMatch OMIM:608432 craniosynostosis, calcification of basal ganglia, and facial dysmorphism semapv:UnspecifiedMatching MONDO:0012035 craniosynostosis-intracranial calcifications syndrome skos:exactMatch Orphanet:52054 Craniosynostosis-intracranial calcifications syndrome semapv:UnspecifiedMatching MONDO:0012035 craniosynostosis-intracranial calcifications syndrome skos:exactMatch SCTID:720816004 semapv:UnspecifiedMatching MONDO:0012035 craniosynostosis-intracranial calcifications syndrome skos:exactMatch UMLS:C1842058 semapv:UnspecifiedMatching MONDO:0012035 craniosynostosis-intracranial calcifications syndrome skos:exactMatch mesh:C564241 semapv:UnspecifiedMatching MONDO:0012036 systemic lupus erythematosus, susceptibility to, 4 skos:exactMatch MEDGEN:374849 semapv:UnspecifiedMatching MONDO:0012036 systemic lupus erythematosus, susceptibility to, 4 skos:exactMatch OMIM:608437 systemic lupus erythematosus, susceptibility to, 4 semapv:UnspecifiedMatching MONDO:0012036 systemic lupus erythematosus, susceptibility to, 4 skos:exactMatch UMLS:C1842057 semapv:UnspecifiedMatching MONDO:0012037 intellectual disability, autosomal recessive 3 skos:exactMatch DOID:0081179 autosomal recessive intellectual developmental disorder 3 semapv:UnspecifiedMatching MONDO:0012037 intellectual disability, autosomal recessive 3 skos:exactMatch MEDGEN:373870 semapv:UnspecifiedMatching MONDO:0012037 intellectual disability, autosomal recessive 3 skos:exactMatch OMIM:608443 intellectual developmental disorder, autosomal recessive 3 semapv:UnspecifiedMatching MONDO:0012037 intellectual disability, autosomal recessive 3 skos:exactMatch UMLS:C1838023 semapv:UnspecifiedMatching MONDO:0012037 intellectual disability, autosomal recessive 3 skos:exactMatch mesh:C563929 semapv:UnspecifiedMatching MONDO:0012038 speech-sound disorder skos:exactMatch MEDGEN:866372 semapv:UnspecifiedMatching MONDO:0012038 speech-sound disorder skos:exactMatch OMIM:608445 speech-sound disorder semapv:UnspecifiedMatching MONDO:0012038 speech-sound disorder skos:exactMatch UMLS:C4019167 semapv:UnspecifiedMatching MONDO:0012038 speech-sound disorder skos:exactMatch mesh:C563928 semapv:UnspecifiedMatching MONDO:0012039 myocardial infarction, susceptibility to skos:exactMatch MEDGEN:318680 semapv:UnspecifiedMatching MONDO:0012039 myocardial infarction, susceptibility to skos:exactMatch OMIM:608446 myocardial infarction, susceptibility to semapv:UnspecifiedMatching MONDO:0012039 myocardial infarction, susceptibility to skos:exactMatch UMLS:C1832662 semapv:UnspecifiedMatching MONDO:0012040 inflammatory bowel disease 9 skos:exactMatch DOID:0110886 inflammatory bowel disease 9 semapv:UnspecifiedMatching MONDO:0012040 inflammatory bowel disease 9 skos:exactMatch MEDGEN:324926 semapv:UnspecifiedMatching MONDO:0012040 inflammatory bowel disease 9 skos:exactMatch OMIM:608448 inflammatory bowel disease 9 semapv:UnspecifiedMatching MONDO:0012040 inflammatory bowel disease 9 skos:exactMatch UMLS:C1838019 semapv:UnspecifiedMatching MONDO:0012040 inflammatory bowel disease 9 skos:exactMatch mesh:C563926 semapv:UnspecifiedMatching MONDO:0012041 familial adenomatous polyposis 2 skos:exactMatch DOID:0080410 familial adenomatous polyposis 2 semapv:UnspecifiedMatching MONDO:0012041 familial adenomatous polyposis 2 skos:exactMatch MEDGEN:474474 semapv:UnspecifiedMatching MONDO:0012041 familial adenomatous polyposis 2 skos:exactMatch NCIT:C96520 MUTYH-Associated Polyposis semapv:UnspecifiedMatching MONDO:0012041 familial adenomatous polyposis 2 skos:exactMatch OMIM:608456 familial adenomatous polyposis 2 semapv:UnspecifiedMatching MONDO:0012041 familial adenomatous polyposis 2 skos:exactMatch Orphanet:247798 MUTYH-related polyposis semapv:UnspecifiedMatching MONDO:0012041 familial adenomatous polyposis 2 skos:exactMatch UMLS:C3272841 semapv:UnspecifiedMatching MONDO:0012041 familial adenomatous polyposis 2 skos:exactMatch mesh:C563924 semapv:UnspecifiedMatching MONDO:0012042 Hirschsprung disease, susceptibility to, 8 skos:exactMatch MEDGEN:409841 semapv:UnspecifiedMatching MONDO:0012042 Hirschsprung disease, susceptibility to, 8 skos:exactMatch OMIM:608462 hirschsprung disease, susceptibility to, 8 semapv:UnspecifiedMatching MONDO:0012042 Hirschsprung disease, susceptibility to, 8 skos:exactMatch UMLS:C1969482 semapv:UnspecifiedMatching MONDO:0012043 Reis-Bucklers corneal dystrophy skos:exactMatch DOID:0060453 Reis-Bucklers corneal dystrophy semapv:UnspecifiedMatching MONDO:0012043 Reis-Bucklers corneal dystrophy skos:exactMatch MEDGEN:83284 semapv:UnspecifiedMatching MONDO:0012043 Reis-Bucklers corneal dystrophy skos:exactMatch OMIM:608470 corneal dystrophy, reis-bucklers type semapv:UnspecifiedMatching MONDO:0012043 Reis-Bucklers corneal dystrophy skos:exactMatch Orphanet:98961 Reis-Bücklers corneal dystrophy semapv:UnspecifiedMatching MONDO:0012043 Reis-Bucklers corneal dystrophy skos:exactMatch SCTID:231930000 semapv:UnspecifiedMatching MONDO:0012043 Reis-Bucklers corneal dystrophy skos:exactMatch UMLS:C0339278 semapv:UnspecifiedMatching MONDO:0012043 Reis-Bucklers corneal dystrophy skos:exactMatch mesh:C535476 semapv:UnspecifiedMatching MONDO:0012044 corneal dystrophy, lattice type 3A skos:exactMatch MEDGEN:332989 semapv:UnspecifiedMatching MONDO:0012044 corneal dystrophy, lattice type 3A skos:exactMatch OMIM:608471 corneal dystrophy, lattice type 3a semapv:UnspecifiedMatching MONDO:0012044 corneal dystrophy, lattice type 3A skos:exactMatch UMLS:C1837974 semapv:UnspecifiedMatching MONDO:0012044 corneal dystrophy, lattice type 3A skos:exactMatch mesh:C563923 semapv:UnspecifiedMatching MONDO:0012045 myopia 5, autosomal dominant skos:exactMatch MEDGEN:324913 semapv:UnspecifiedMatching MONDO:0012045 myopia 5, autosomal dominant skos:exactMatch OMIM:608474 myopia 5, autosomal dominant semapv:UnspecifiedMatching MONDO:0012045 myopia 5, autosomal dominant skos:exactMatch UMLS:C1837972 semapv:UnspecifiedMatching MONDO:0012045 myopia 5, autosomal dominant skos:exactMatch mesh:C563922 semapv:UnspecifiedMatching MONDO:0012046 congenital corneal opacities, cornea guttata, and corectopia skos:exactMatch MEDGEN:324911 semapv:UnspecifiedMatching MONDO:0012046 congenital corneal opacities, cornea guttata, and corectopia skos:exactMatch OMIM:608484 congenital corneal opacities, cornea guttata, and corectopia semapv:UnspecifiedMatching MONDO:0012046 congenital corneal opacities, cornea guttata, and corectopia skos:exactMatch UMLS:C1837970 semapv:UnspecifiedMatching MONDO:0012046 congenital corneal opacities, cornea guttata, and corectopia skos:exactMatch mesh:C563921 semapv:UnspecifiedMatching MONDO:0012047 alopecia universalis congenita, 10Y gonadal dysgenesis, and laryngomalacia skos:exactMatch MEDGEN:373853 semapv:UnspecifiedMatching MONDO:0012047 alopecia universalis congenita, 10Y gonadal dysgenesis, and laryngomalacia skos:exactMatch OMIM:608509 alopecia universalis congenita, 10y gonadal dysgenesis, and laryngomalacia semapv:UnspecifiedMatching MONDO:0012047 alopecia universalis congenita, 10Y gonadal dysgenesis, and laryngomalacia skos:exactMatch UMLS:C1837946 semapv:UnspecifiedMatching MONDO:0012047 alopecia universalis congenita, 10Y gonadal dysgenesis, and laryngomalacia skos:exactMatch mesh:C563920 semapv:UnspecifiedMatching MONDO:0012048 endogenous depression skos:exactMatch DOID:1595 melancholic depression semapv:UnspecifiedMatching MONDO:0012048 endogenous depression skos:exactMatch MEDGEN:3763 semapv:UnspecifiedMatching MONDO:0012048 endogenous depression skos:exactMatch NCIT:C34532 Endogenous Depression semapv:UnspecifiedMatching MONDO:0012048 endogenous depression skos:exactMatch SCTID:300706003 semapv:UnspecifiedMatching MONDO:0012048 endogenous depression skos:exactMatch UMLS:C0011573 semapv:UnspecifiedMatching MONDO:0012049 orofaciodigital syndrome VII skos:exactMatch DOID:0060377 orofaciodigital syndrome VII semapv:UnspecifiedMatching MONDO:0012049 orofaciodigital syndrome VII skos:exactMatch MEDGEN:162907 semapv:UnspecifiedMatching MONDO:0012049 orofaciodigital syndrome VII skos:exactMatch OMIM:608518 orofaciodigital syndrome 7 semapv:UnspecifiedMatching MONDO:0012049 orofaciodigital syndrome VII skos:exactMatch UMLS:C0796100 semapv:UnspecifiedMatching MONDO:0012049 orofaciodigital syndrome VII skos:exactMatch mesh:C563104 semapv:UnspecifiedMatching MONDO:0012050 major depressive disorder 1 skos:exactMatch MEDGEN:325293 semapv:UnspecifiedMatching MONDO:0012050 major depressive disorder 1 skos:exactMatch OMIM:608520 major depressive disorder 1 semapv:UnspecifiedMatching MONDO:0012050 major depressive disorder 1 skos:exactMatch UMLS:C1837929 semapv:UnspecifiedMatching MONDO:0012050 major depressive disorder 1 skos:exactMatch mesh:C563919 semapv:UnspecifiedMatching MONDO:0012051 periodontitis, aggressive, 2 skos:exactMatch MEDGEN:370671 semapv:UnspecifiedMatching MONDO:0012051 periodontitis, aggressive, 2 skos:exactMatch OMIM:608526 periodontitis, aggressive, 2 semapv:UnspecifiedMatching MONDO:0012051 periodontitis, aggressive, 2 skos:exactMatch UMLS:C1969478 semapv:UnspecifiedMatching MONDO:0012051 periodontitis, aggressive, 2 skos:exactMatch mesh:C566946 semapv:UnspecifiedMatching MONDO:0012052 ALG1-congenital disorder of glycosylation skos:exactMatch DOID:0080563 congenital disorder of glycosylation Ik semapv:UnspecifiedMatching MONDO:0012052 ALG1-congenital disorder of glycosylation skos:exactMatch MEDGEN:419308 semapv:UnspecifiedMatching MONDO:0012052 ALG1-congenital disorder of glycosylation skos:exactMatch OMIM:608540 congenital disorder of glycosylation, type ik semapv:UnspecifiedMatching MONDO:0012052 ALG1-congenital disorder of glycosylation skos:exactMatch Orphanet:79327 ALG1-CDG semapv:UnspecifiedMatching MONDO:0012052 ALG1-congenital disorder of glycosylation skos:exactMatch SCTID:720941007 semapv:UnspecifiedMatching MONDO:0012052 ALG1-congenital disorder of glycosylation skos:exactMatch UMLS:C2931005 semapv:UnspecifiedMatching MONDO:0012052 ALG1-congenital disorder of glycosylation skos:exactMatch mesh:C535749 semapv:UnspecifiedMatching MONDO:0012053 aneurysm, intracranial berry, 2 skos:exactMatch DOID:0080965 intracranial berry aneurysm 2 semapv:UnspecifiedMatching MONDO:0012053 aneurysm, intracranial berry, 2 skos:exactMatch MEDGEN:325285 semapv:UnspecifiedMatching MONDO:0012053 aneurysm, intracranial berry, 2 skos:exactMatch OMIM:608542 aneurysm, intracranial berry, 2 semapv:UnspecifiedMatching MONDO:0012053 aneurysm, intracranial berry, 2 skos:exactMatch UMLS:C1837894 semapv:UnspecifiedMatching MONDO:0012053 aneurysm, intracranial berry, 2 skos:exactMatch mesh:C536360 semapv:UnspecifiedMatching MONDO:0012054 schizophrenia 12 skos:exactMatch DOID:0070088 schizophrenia 12 semapv:UnspecifiedMatching MONDO:0012054 schizophrenia 12 skos:exactMatch MEDGEN:373838 semapv:UnspecifiedMatching MONDO:0012054 schizophrenia 12 skos:exactMatch OMIM:608543 schizophrenia 12 semapv:UnspecifiedMatching MONDO:0012054 schizophrenia 12 skos:exactMatch UMLS:C1837893 semapv:UnspecifiedMatching MONDO:0012055 Larsen-like osseous dysplasia-short stature syndrome skos:exactMatch MEDGEN:325280 semapv:UnspecifiedMatching MONDO:0012055 Larsen-like osseous dysplasia-short stature syndrome skos:exactMatch OMIM:608545 larsen-like syndrome semapv:UnspecifiedMatching MONDO:0012055 Larsen-like osseous dysplasia-short stature syndrome skos:exactMatch Orphanet:2370 Larsen-like osseous dysplasia-short stature syndrome semapv:UnspecifiedMatching MONDO:0012055 Larsen-like osseous dysplasia-short stature syndrome skos:exactMatch UMLS:C1837884 semapv:UnspecifiedMatching MONDO:0012055 Larsen-like osseous dysplasia-short stature syndrome skos:exactMatch mesh:C563914 semapv:UnspecifiedMatching MONDO:0012056 Leber congenital amaurosis 9 skos:exactMatch DOID:0110005 Leber congenital amaurosis 9 semapv:UnspecifiedMatching MONDO:0012056 Leber congenital amaurosis 9 skos:exactMatch MEDGEN:325277 semapv:UnspecifiedMatching MONDO:0012056 Leber congenital amaurosis 9 skos:exactMatch OMIM:608553 leber congenital amaurosis 9 semapv:UnspecifiedMatching MONDO:0012056 Leber congenital amaurosis 9 skos:exactMatch UMLS:C1837873 semapv:UnspecifiedMatching MONDO:0012056 Leber congenital amaurosis 9 skos:exactMatch mesh:C536603 semapv:UnspecifiedMatching MONDO:0012057 legionnaire disease, susceptibility to skos:exactMatch MEDGEN:325276 semapv:UnspecifiedMatching MONDO:0012057 legionnaire disease, susceptibility to skos:exactMatch OMIM:608556 legionnaire disease, susceptibility to semapv:UnspecifiedMatching MONDO:0012057 legionnaire disease, susceptibility to skos:exactMatch UMLS:C1837872 semapv:UnspecifiedMatching MONDO:0012058 myocardial infarction, susceptibility to, 2 skos:exactMatch MEDGEN:325275 semapv:UnspecifiedMatching MONDO:0012058 myocardial infarction, susceptibility to, 2 skos:exactMatch OMIM:608557 myocardial infarction, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0012058 myocardial infarction, susceptibility to, 2 skos:exactMatch UMLS:C1837871 semapv:UnspecifiedMatching MONDO:0012059 polydactyly, postaxial, type A4 skos:exactMatch MEDGEN:325272 semapv:UnspecifiedMatching MONDO:0012059 polydactyly, postaxial, type A4 skos:exactMatch OMIM:608562 polydactyly, postaxial, type a4 semapv:UnspecifiedMatching MONDO:0012059 polydactyly, postaxial, type A4 skos:exactMatch UMLS:C1837868 semapv:UnspecifiedMatching MONDO:0012059 polydactyly, postaxial, type A4 skos:exactMatch mesh:C563909 semapv:UnspecifiedMatching MONDO:0012060 autosomal recessive nonsyndromic hearing loss 35 skos:exactMatch DOID:0110493 autosomal recessive nonsyndromic deafness 35 semapv:UnspecifiedMatching MONDO:0012060 autosomal recessive nonsyndromic hearing loss 35 skos:exactMatch MEDGEN:324897 semapv:UnspecifiedMatching MONDO:0012060 autosomal recessive nonsyndromic hearing loss 35 skos:exactMatch OMIM:608565 deafness, autosomal recessive 35 semapv:UnspecifiedMatching MONDO:0012060 autosomal recessive nonsyndromic hearing loss 35 skos:exactMatch UMLS:C1837857 semapv:UnspecifiedMatching MONDO:0012060 autosomal recessive nonsyndromic hearing loss 35 skos:exactMatch mesh:C563908 semapv:UnspecifiedMatching MONDO:0012061 familial sick sinus syndrome skos:exactMatch MEDGEN:573766 semapv:UnspecifiedMatching MONDO:0012061 familial sick sinus syndrome skos:exactMatch OMIMPS:608567 Sick sinus syndrome semapv:UnspecifiedMatching MONDO:0012061 familial sick sinus syndrome skos:exactMatch Orphanet:166282 Hereditary sick sinus syndrome semapv:UnspecifiedMatching MONDO:0012061 familial sick sinus syndrome skos:exactMatch SCTID:233913007 semapv:UnspecifiedMatching MONDO:0012061 familial sick sinus syndrome skos:exactMatch UMLS:C0340491 semapv:UnspecifiedMatching MONDO:0012061 familial sick sinus syndrome skos:exactMatch icd11.foundation:1495462959 Familial sick sinus syndrome semapv:UnspecifiedMatching MONDO:0012061 familial sick sinus syndrome skos:exactMatch mesh:C563907 semapv:UnspecifiedMatching MONDO:0012062 dilated cardiomyopathy 1O skos:exactMatch DOID:0110451 dilated cardiomyopathy 1O semapv:UnspecifiedMatching MONDO:0012062 dilated cardiomyopathy 1O skos:exactMatch MEDGEN:325268 semapv:UnspecifiedMatching MONDO:0012062 dilated cardiomyopathy 1O skos:exactMatch OMIM:608569 cardiomyopathy, dilated, 1o semapv:UnspecifiedMatching MONDO:0012062 dilated cardiomyopathy 1O skos:exactMatch UMLS:C1837839 semapv:UnspecifiedMatching MONDO:0012062 dilated cardiomyopathy 1O skos:exactMatch mesh:C563906 semapv:UnspecifiedMatching MONDO:0012063 ulnar/fibula ray defect-brachydactyly syndrome skos:exactMatch MEDGEN:324890 semapv:UnspecifiedMatching MONDO:0012063 ulnar/fibula ray defect-brachydactyly syndrome skos:exactMatch OMIM:608571 ulnar/fibular ray defect and brachydactyly semapv:UnspecifiedMatching MONDO:0012063 ulnar/fibula ray defect-brachydactyly syndrome skos:exactMatch Orphanet:52056 Ulnar/fibula ray defect-brachydactyly syndrome semapv:UnspecifiedMatching MONDO:0012063 ulnar/fibula ray defect-brachydactyly syndrome skos:exactMatch SCTID:719843001 semapv:UnspecifiedMatching MONDO:0012063 ulnar/fibula ray defect-brachydactyly syndrome skos:exactMatch UMLS:C1837830 semapv:UnspecifiedMatching MONDO:0012063 ulnar/fibula ray defect-brachydactyly syndrome skos:exactMatch mesh:C563905 semapv:UnspecifiedMatching MONDO:0012064 choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome skos:exactMatch DOID:0080695 Burn-McKeown syndrome semapv:UnspecifiedMatching MONDO:0012064 choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome skos:exactMatch MEDGEN:325265 semapv:UnspecifiedMatching MONDO:0012064 choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome skos:exactMatch OMIM:608572 burn-mckeown syndrome semapv:UnspecifiedMatching MONDO:0012064 choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome skos:exactMatch Orphanet:1200 Burn-McKeown syndrome semapv:UnspecifiedMatching MONDO:0012064 choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome skos:exactMatch UMLS:C1837822 semapv:UnspecifiedMatching MONDO:0012064 choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome skos:exactMatch mesh:C563682 semapv:UnspecifiedMatching MONDO:0012066 atrial fibrillation, familial, 1 skos:exactMatch MEDGEN:334469 semapv:UnspecifiedMatching MONDO:0012066 atrial fibrillation, familial, 1 skos:exactMatch OMIM:608583 atrial fibrillation, familial, 1 semapv:UnspecifiedMatching MONDO:0012066 atrial fibrillation, familial, 1 skos:exactMatch UMLS:C1843687 semapv:UnspecifiedMatching MONDO:0012066 atrial fibrillation, familial, 1 skos:exactMatch mesh:C538261 semapv:UnspecifiedMatching MONDO:0012067 asthma-related traits, susceptibility to, 2 skos:exactMatch MEDGEN:324885 semapv:UnspecifiedMatching MONDO:0012067 asthma-related traits, susceptibility to, 2 skos:exactMatch OMIM:608584 asthma-related traits, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0012067 asthma-related traits, susceptibility to, 2 skos:exactMatch UMLS:C1837811 semapv:UnspecifiedMatching MONDO:0012068 brachial palsy, familial congenital skos:exactMatch MEDGEN:324884 semapv:UnspecifiedMatching MONDO:0012068 brachial palsy, familial congenital skos:exactMatch OMIM:608585 brachial palsy, familial congenital semapv:UnspecifiedMatching MONDO:0012068 brachial palsy, familial congenital skos:exactMatch UMLS:C1837810 semapv:UnspecifiedMatching MONDO:0012068 brachial palsy, familial congenital skos:exactMatch mesh:C563901 semapv:UnspecifiedMatching MONDO:0012069 keratoconus 3 skos:exactMatch MEDGEN:324883 semapv:UnspecifiedMatching MONDO:0012069 keratoconus 3 skos:exactMatch OMIM:608586 keratoconus 3 semapv:UnspecifiedMatching MONDO:0012069 keratoconus 3 skos:exactMatch UMLS:C1837809 semapv:UnspecifiedMatching MONDO:0012069 keratoconus 3 skos:exactMatch mesh:C563900 semapv:UnspecifiedMatching MONDO:0012071 congenital generalized lipodystrophy type 1 skos:exactMatch DOID:0111135 congenital generalized lipodystrophy type 1 semapv:UnspecifiedMatching MONDO:0012071 congenital generalized lipodystrophy type 1 skos:exactMatch MEDGEN:318592 semapv:UnspecifiedMatching MONDO:0012071 congenital generalized lipodystrophy type 1 skos:exactMatch OMIM:608594 lipodystrophy, congenital generalized, type 1 semapv:UnspecifiedMatching MONDO:0012071 congenital generalized lipodystrophy type 1 skos:exactMatch Orphanet:696189 Congenital generalized lipodystrophy type 1 semapv:UnspecifiedMatching MONDO:0012071 congenital generalized lipodystrophy type 1 skos:exactMatch UMLS:C1720862 semapv:UnspecifiedMatching MONDO:0012072 familial partial lipodystrophy, Kobberling type skos:exactMatch DOID:0070207 familial partial lipodystrophy type 1 semapv:UnspecifiedMatching MONDO:0012072 familial partial lipodystrophy, Kobberling type skos:exactMatch MEDGEN:318591 semapv:UnspecifiedMatching MONDO:0012072 familial partial lipodystrophy, Kobberling type skos:exactMatch OMIM:608600 lipodystrophy, familial partial, type 1 semapv:UnspecifiedMatching MONDO:0012072 familial partial lipodystrophy, Kobberling type skos:exactMatch Orphanet:79084 Familial partial lipodystrophy, Köbberling type semapv:UnspecifiedMatching MONDO:0012072 familial partial lipodystrophy, Kobberling type skos:exactMatch SCTID:725035001 semapv:UnspecifiedMatching MONDO:0012072 familial partial lipodystrophy, Kobberling type skos:exactMatch UMLS:C1720859 semapv:UnspecifiedMatching MONDO:0012073 ribose-5-P isomerase deficiency skos:exactMatch MEDGEN:220946 semapv:UnspecifiedMatching MONDO:0012073 ribose-5-P isomerase deficiency skos:exactMatch OMIM:608611 ribose 5-phosphate isomerase deficiency semapv:UnspecifiedMatching MONDO:0012073 ribose-5-P isomerase deficiency skos:exactMatch Orphanet:440706 Ribose-5-P isomerase deficiency semapv:UnspecifiedMatching MONDO:0012073 ribose-5-P isomerase deficiency skos:exactMatch SCTID:124667004 semapv:UnspecifiedMatching MONDO:0012073 ribose-5-P isomerase deficiency skos:exactMatch UMLS:C1291609 semapv:UnspecifiedMatching MONDO:0012073 ribose-5-P isomerase deficiency skos:exactMatch mesh:C563212 semapv:UnspecifiedMatching MONDO:0012074 mandibuloacral dysplasia with type B lipodystrophy skos:exactMatch DOID:0081129 mandibuloacral dysplasia type B lipodystrophy semapv:UnspecifiedMatching MONDO:0012074 mandibuloacral dysplasia with type B lipodystrophy skos:exactMatch MEDGEN:332940 semapv:UnspecifiedMatching MONDO:0012074 mandibuloacral dysplasia with type B lipodystrophy skos:exactMatch OMIM:608612 mandibuloacral dysplasia with type B lipodystrophy semapv:UnspecifiedMatching MONDO:0012074 mandibuloacral dysplasia with type B lipodystrophy skos:exactMatch Orphanet:90154 Mandibuloacral dysplasia with type B lipodystrophy semapv:UnspecifiedMatching MONDO:0012074 mandibuloacral dysplasia with type B lipodystrophy skos:exactMatch UMLS:C1837756 semapv:UnspecifiedMatching MONDO:0012074 mandibuloacral dysplasia with type B lipodystrophy skos:exactMatch icd11.foundation:1199517264 Mandibuloacral dysplasia with type B lipodystrophy semapv:UnspecifiedMatching MONDO:0012074 mandibuloacral dysplasia with type B lipodystrophy skos:exactMatch mesh:C535706 semapv:UnspecifiedMatching MONDO:0012075 oligodontia-cancer predisposition syndrome skos:exactMatch MEDGEN:324868 semapv:UnspecifiedMatching MONDO:0012075 oligodontia-cancer predisposition syndrome skos:exactMatch OMIM:608615 oligodontia-colorectal cancer syndrome semapv:UnspecifiedMatching MONDO:0012075 oligodontia-cancer predisposition syndrome skos:exactMatch UMLS:C1837750 semapv:UnspecifiedMatching MONDO:0012075 oligodontia-cancer predisposition syndrome skos:exactMatch mesh:C563898 semapv:UnspecifiedMatching MONDO:0012076 midface hypoplasia, obesity, developmental delay, and neonatal hypotonia skos:exactMatch MEDGEN:325238 semapv:UnspecifiedMatching MONDO:0012076 midface hypoplasia, obesity, developmental delay, and neonatal hypotonia skos:exactMatch OMIM:608624 midface hypoplasia, obesity, developmental delay, and neonatal hypotonia semapv:UnspecifiedMatching MONDO:0012076 midface hypoplasia, obesity, developmental delay, and neonatal hypotonia skos:exactMatch UMLS:C1837730 semapv:UnspecifiedMatching MONDO:0012076 midface hypoplasia, obesity, developmental delay, and neonatal hypotonia skos:exactMatch mesh:C563896 semapv:UnspecifiedMatching MONDO:0012077 amyotrophic lateral sclerosis type 8 skos:exactMatch DOID:0050752 amyotrophic lateral sclerosis type 8 semapv:UnspecifiedMatching MONDO:0012077 amyotrophic lateral sclerosis type 8 skos:exactMatch MEDGEN:325237 semapv:UnspecifiedMatching MONDO:0012077 amyotrophic lateral sclerosis type 8 skos:exactMatch OMIM:608627 amyotrophic lateral sclerosis 8 semapv:UnspecifiedMatching MONDO:0012077 amyotrophic lateral sclerosis type 8 skos:exactMatch UMLS:C1837728 semapv:UnspecifiedMatching MONDO:0012077 amyotrophic lateral sclerosis type 8 skos:exactMatch mesh:C563895 semapv:UnspecifiedMatching MONDO:0012078 Joubert syndrome 3 skos:exactMatch DOID:0110998 Joubert syndrome 3 semapv:UnspecifiedMatching MONDO:0012078 Joubert syndrome 3 skos:exactMatch MEDGEN:332931 semapv:UnspecifiedMatching MONDO:0012078 Joubert syndrome 3 skos:exactMatch NCIT:C148259 Joubert Syndrome 3 semapv:UnspecifiedMatching MONDO:0012078 Joubert syndrome 3 skos:exactMatch OMIM:608629 joubert syndrome 3 semapv:UnspecifiedMatching MONDO:0012078 Joubert syndrome 3 skos:exactMatch UMLS:C1837713 semapv:UnspecifiedMatching MONDO:0012078 Joubert syndrome 3 skos:exactMatch mesh:C536295 semapv:UnspecifiedMatching MONDO:0012079 asperger syndrome, susceptibility to, 2 skos:exactMatch MEDGEN:332517 semapv:UnspecifiedMatching MONDO:0012079 asperger syndrome, susceptibility to, 2 skos:exactMatch OMIM:608631 asperger syndrome, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0012079 asperger syndrome, susceptibility to, 2 skos:exactMatch UMLS:C1837697 semapv:UnspecifiedMatching MONDO:0012080 neuronopathy, distal hereditary motor, type 2B skos:exactMatch DOID:0111207 autosomal dominant distal hereditary motor neuronopathy 3 semapv:UnspecifiedMatching MONDO:0012080 neuronopathy, distal hereditary motor, type 2B skos:exactMatch MEDGEN:382017 semapv:UnspecifiedMatching MONDO:0012080 neuronopathy, distal hereditary motor, type 2B skos:exactMatch OMIM:608634 neuronopathy, distal hereditary motor, autosomal dominant 3 semapv:UnspecifiedMatching MONDO:0012080 neuronopathy, distal hereditary motor, type 2B skos:exactMatch UMLS:C2608087 semapv:UnspecifiedMatching MONDO:0012080 neuronopathy, distal hereditary motor, type 2B skos:exactMatch mesh:C567084 semapv:UnspecifiedMatching MONDO:0012081 15q11q13 microduplication syndrome skos:exactMatch MEDGEN:390767 semapv:UnspecifiedMatching MONDO:0012081 15q11q13 microduplication syndrome skos:exactMatch NCIT:C126692 Chromosome 15q11-q13 Duplication Syndrome semapv:UnspecifiedMatching MONDO:0012081 15q11q13 microduplication syndrome skos:exactMatch OMIM:608636 chromosome 15q11-q13 duplication syndrome semapv:UnspecifiedMatching MONDO:0012081 15q11q13 microduplication syndrome skos:exactMatch Orphanet:238446 15q11q13 microduplication syndrome semapv:UnspecifiedMatching MONDO:0012081 15q11q13 microduplication syndrome skos:exactMatch SCTID:719427001 semapv:UnspecifiedMatching MONDO:0012081 15q11q13 microduplication syndrome skos:exactMatch UMLS:C2675336 semapv:UnspecifiedMatching MONDO:0012082 asperger syndrome, susceptibility to, 1 skos:exactMatch MEDGEN:325218 semapv:UnspecifiedMatching MONDO:0012082 asperger syndrome, susceptibility to, 1 skos:exactMatch OMIM:608638 asperger syndrome, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0012082 asperger syndrome, susceptibility to, 1 skos:exactMatch UMLS:C1837646 semapv:UnspecifiedMatching MONDO:0012083 autosomal dominant nonsyndromic hearing loss 28 skos:exactMatch DOID:0110557 autosomal dominant nonsyndromic deafness 28 semapv:UnspecifiedMatching MONDO:0012083 autosomal dominant nonsyndromic hearing loss 28 skos:exactMatch MEDGEN:324846 semapv:UnspecifiedMatching MONDO:0012083 autosomal dominant nonsyndromic hearing loss 28 skos:exactMatch OMIM:608641 deafness, autosomal dominant 28 semapv:UnspecifiedMatching MONDO:0012083 autosomal dominant nonsyndromic hearing loss 28 skos:exactMatch UMLS:C1837640 semapv:UnspecifiedMatching MONDO:0012083 autosomal dominant nonsyndromic hearing loss 28 skos:exactMatch mesh:C563890 semapv:UnspecifiedMatching MONDO:0012084 aromatic L-amino acid decarboxylase deficiency skos:exactMatch DOID:0090123 aromatic L-amino acid decarboxylase deficiency semapv:UnspecifiedMatching MONDO:0012084 aromatic L-amino acid decarboxylase deficiency skos:exactMatch ICD10CM:E70.81 Aromatic L-amino acid decarboxylase deficiency semapv:UnspecifiedMatching MONDO:0012084 aromatic L-amino acid decarboxylase deficiency skos:exactMatch MEDGEN:220945 semapv:UnspecifiedMatching MONDO:0012084 aromatic L-amino acid decarboxylase deficiency skos:exactMatch NCIT:C142085 Aromatic L-Amino-Acid Decarboxylase Deficiency semapv:UnspecifiedMatching MONDO:0012084 aromatic L-amino acid decarboxylase deficiency skos:exactMatch OMIM:608643 aromatic l-amino acid decarboxylase deficiency semapv:UnspecifiedMatching MONDO:0012084 aromatic L-amino acid decarboxylase deficiency skos:exactMatch Orphanet:35708 Aromatic L-amino acid decarboxylase deficiency semapv:UnspecifiedMatching MONDO:0012084 aromatic L-amino acid decarboxylase deficiency skos:exactMatch SCTID:237922009 semapv:UnspecifiedMatching MONDO:0012084 aromatic L-amino acid decarboxylase deficiency skos:exactMatch UMLS:C1291564 semapv:UnspecifiedMatching MONDO:0012084 aromatic L-amino acid decarboxylase deficiency skos:exactMatch icd11.foundation:1134258245 Aromatic L-amino acid decarboxylase deficiency semapv:UnspecifiedMatching MONDO:0012084 aromatic L-amino acid decarboxylase deficiency skos:exactMatch mesh:C537437 semapv:UnspecifiedMatching MONDO:0012085 primary ciliary dyskinesia 3 skos:exactMatch DOID:0110599 primary ciliary dyskinesia 3 semapv:UnspecifiedMatching MONDO:0012085 primary ciliary dyskinesia 3 skos:exactMatch MEDGEN:325210 semapv:UnspecifiedMatching MONDO:0012085 primary ciliary dyskinesia 3 skos:exactMatch NCIT:C172392 Primary Ciliary Dyskinesia 3 semapv:UnspecifiedMatching MONDO:0012085 primary ciliary dyskinesia 3 skos:exactMatch OMIM:608644 ciliary dyskinesia, primary, 3 semapv:UnspecifiedMatching MONDO:0012085 primary ciliary dyskinesia 3 skos:exactMatch UMLS:C1837618 semapv:UnspecifiedMatching MONDO:0012085 primary ciliary dyskinesia 3 skos:exactMatch mesh:C535278 semapv:UnspecifiedMatching MONDO:0012086 autosomal dominant nonsyndromic hearing loss 31 skos:exactMatch DOID:0110561 autosomal dominant nonsyndromic deafness 31 semapv:UnspecifiedMatching MONDO:0012086 autosomal dominant nonsyndromic hearing loss 31 skos:exactMatch MEDGEN:325209 semapv:UnspecifiedMatching MONDO:0012086 autosomal dominant nonsyndromic hearing loss 31 skos:exactMatch OMIM:608645 deafness, autosomal dominant 31 semapv:UnspecifiedMatching MONDO:0012086 autosomal dominant nonsyndromic hearing loss 31 skos:exactMatch UMLS:C1837617 semapv:UnspecifiedMatching MONDO:0012086 autosomal dominant nonsyndromic hearing loss 31 skos:exactMatch mesh:C563888 semapv:UnspecifiedMatching MONDO:0012087 primary ciliary dyskinesia 4 skos:exactMatch DOID:0110614 primary ciliary dyskinesia 4 semapv:UnspecifiedMatching MONDO:0012087 primary ciliary dyskinesia 4 skos:exactMatch MEDGEN:324841 semapv:UnspecifiedMatching MONDO:0012087 primary ciliary dyskinesia 4 skos:exactMatch OMIM:608646 ciliary dyskinesia, primary, 4 semapv:UnspecifiedMatching MONDO:0012087 primary ciliary dyskinesia 4 skos:exactMatch UMLS:C1837616 semapv:UnspecifiedMatching MONDO:0012087 primary ciliary dyskinesia 4 skos:exactMatch mesh:C535279 semapv:UnspecifiedMatching MONDO:0012088 primary ciliary dyskinesia 5 skos:exactMatch DOID:0110617 primary ciliary dyskinesia 5 semapv:UnspecifiedMatching MONDO:0012088 primary ciliary dyskinesia 5 skos:exactMatch MEDGEN:324840 semapv:UnspecifiedMatching MONDO:0012088 primary ciliary dyskinesia 5 skos:exactMatch OMIM:608647 ciliary dyskinesia, primary, 5 semapv:UnspecifiedMatching MONDO:0012088 primary ciliary dyskinesia 5 skos:exactMatch UMLS:C1837615 semapv:UnspecifiedMatching MONDO:0012088 primary ciliary dyskinesia 5 skos:exactMatch mesh:C563886 semapv:UnspecifiedMatching MONDO:0012089 ichthyosis prematurity syndrome skos:exactMatch MEDGEN:324839 semapv:UnspecifiedMatching MONDO:0012089 ichthyosis prematurity syndrome skos:exactMatch NCIT:C62590 Idiopathic Pneumonia Syndrome semapv:UnspecifiedMatching MONDO:0012089 ichthyosis prematurity syndrome skos:exactMatch OMIM:608649 ichthyosis prematurity syndrome semapv:UnspecifiedMatching MONDO:0012089 ichthyosis prematurity syndrome skos:exactMatch Orphanet:88621 Ichthyosis-prematurity syndrome semapv:UnspecifiedMatching MONDO:0012089 ichthyosis prematurity syndrome skos:exactMatch SCTID:12381000132107 semapv:UnspecifiedMatching MONDO:0012089 ichthyosis prematurity syndrome skos:exactMatch UMLS:C1837610 semapv:UnspecifiedMatching MONDO:0012089 ichthyosis prematurity syndrome skos:exactMatch mesh:C536271 semapv:UnspecifiedMatching MONDO:0012090 autosomal dominant nonsyndromic hearing loss 47 skos:exactMatch DOID:0110570 autosomal dominant nonsyndromic deafness 47 semapv:UnspecifiedMatching MONDO:0012090 autosomal dominant nonsyndromic hearing loss 47 skos:exactMatch MEDGEN:324838 semapv:UnspecifiedMatching MONDO:0012090 autosomal dominant nonsyndromic hearing loss 47 skos:exactMatch OMIM:608652 deafness, autosomal dominant 47 semapv:UnspecifiedMatching MONDO:0012090 autosomal dominant nonsyndromic hearing loss 47 skos:exactMatch UMLS:C1837609 semapv:UnspecifiedMatching MONDO:0012090 autosomal dominant nonsyndromic hearing loss 47 skos:exactMatch mesh:C563885 semapv:UnspecifiedMatching MONDO:0012091 autosomal recessive nonsyndromic hearing loss 32 skos:exactMatch DOID:0110491 autosomal recessive nonsyndromic deafness 32 semapv:UnspecifiedMatching MONDO:0012091 autosomal recessive nonsyndromic hearing loss 32 skos:exactMatch MEDGEN:373370 semapv:UnspecifiedMatching MONDO:0012091 autosomal recessive nonsyndromic hearing loss 32 skos:exactMatch OMIM:608653 deafness, autosomal recessive 32, with or without immotile sperm semapv:UnspecifiedMatching MONDO:0012091 autosomal recessive nonsyndromic hearing loss 32 skos:exactMatch UMLS:C1837608 semapv:UnspecifiedMatching MONDO:0012091 autosomal recessive nonsyndromic hearing loss 32 skos:exactMatch mesh:C563884 semapv:UnspecifiedMatching MONDO:0012092 hereditary sensory and autonomic neuropathy type 5 skos:exactMatch DOID:0070145 hereditary sensory and autonomic neuropathy type 5 semapv:UnspecifiedMatching MONDO:0012092 hereditary sensory and autonomic neuropathy type 5 skos:exactMatch MEDGEN:6916 semapv:UnspecifiedMatching MONDO:0012092 hereditary sensory and autonomic neuropathy type 5 skos:exactMatch OMIM:608654 neuropathy, hereditary sensory and autonomic, type 5 semapv:UnspecifiedMatching MONDO:0012092 hereditary sensory and autonomic neuropathy type 5 skos:exactMatch Orphanet:64752 Hereditary sensory and autonomic neuropathy type 5 semapv:UnspecifiedMatching MONDO:0012092 hereditary sensory and autonomic neuropathy type 5 skos:exactMatch SCTID:128206006 semapv:UnspecifiedMatching MONDO:0012092 hereditary sensory and autonomic neuropathy type 5 skos:exactMatch UMLS:C0020075 semapv:UnspecifiedMatching MONDO:0012092 hereditary sensory and autonomic neuropathy type 5 skos:exactMatch icd11.foundation:1411011731 Hereditary sensory and autonomic neuropathy type V semapv:UnspecifiedMatching MONDO:0012093 prostate cancer, hereditary, 3 skos:exactMatch MEDGEN:373367 semapv:UnspecifiedMatching MONDO:0012093 prostate cancer, hereditary, 3 skos:exactMatch OMIM:608656 prostate cancer, hereditary, 3 semapv:UnspecifiedMatching MONDO:0012093 prostate cancer, hereditary, 3 skos:exactMatch UMLS:C1837595 semapv:UnspecifiedMatching MONDO:0012093 prostate cancer, hereditary, 3 skos:exactMatch mesh:C563883 semapv:UnspecifiedMatching MONDO:0012094 prostate cancer, hereditary, 4 skos:exactMatch MEDGEN:325204 semapv:UnspecifiedMatching MONDO:0012094 prostate cancer, hereditary, 4 skos:exactMatch OMIM:608658 prostate cancer, hereditary, 4 semapv:UnspecifiedMatching MONDO:0012094 prostate cancer, hereditary, 4 skos:exactMatch UMLS:C1837593 semapv:UnspecifiedMatching MONDO:0012094 prostate cancer, hereditary, 4 skos:exactMatch mesh:C563882 semapv:UnspecifiedMatching MONDO:0012095 intellectual disability-brachydactyly-Pierre Robin syndrome skos:exactMatch MEDGEN:325196 semapv:UnspecifiedMatching MONDO:0012095 intellectual disability-brachydactyly-Pierre Robin syndrome skos:exactMatch OMIM:608670 robin sequence with distinctive facial appearance and brachydactyly semapv:UnspecifiedMatching MONDO:0012095 intellectual disability-brachydactyly-Pierre Robin syndrome skos:exactMatch Orphanet:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome semapv:UnspecifiedMatching MONDO:0012095 intellectual disability-brachydactyly-Pierre Robin syndrome skos:exactMatch UMLS:C1837564 semapv:UnspecifiedMatching MONDO:0012095 intellectual disability-brachydactyly-Pierre Robin syndrome skos:exactMatch mesh:C563880 semapv:UnspecifiedMatching MONDO:0012096 Charcot-Marie-Tooth disease axonal type 2L skos:exactMatch DOID:0110174 Charcot-Marie-Tooth disease axonal type 2L semapv:UnspecifiedMatching MONDO:0012096 Charcot-Marie-Tooth disease axonal type 2L skos:exactMatch MEDGEN:324826 semapv:UnspecifiedMatching MONDO:0012096 Charcot-Marie-Tooth disease axonal type 2L skos:exactMatch OMIM:608673 charcot-marie-tooth disease, axonal, type 2l semapv:UnspecifiedMatching MONDO:0012096 Charcot-Marie-Tooth disease axonal type 2L skos:exactMatch Orphanet:99945 Autosomal dominant Charcot-Marie-Tooth disease type 2L semapv:UnspecifiedMatching MONDO:0012096 Charcot-Marie-Tooth disease axonal type 2L skos:exactMatch SCTID:719513008 semapv:UnspecifiedMatching MONDO:0012096 Charcot-Marie-Tooth disease axonal type 2L skos:exactMatch UMLS:C1837552 semapv:UnspecifiedMatching MONDO:0012097 spondylocostal dysostosis 2, autosomal recessive skos:exactMatch DOID:0112362 spondylocostal dysostosis 2 semapv:UnspecifiedMatching MONDO:0012097 spondylocostal dysostosis 2, autosomal recessive skos:exactMatch MEDGEN:332481 semapv:UnspecifiedMatching MONDO:0012097 spondylocostal dysostosis 2, autosomal recessive skos:exactMatch OMIM:608681 spondylocostal dysostosis 2, autosomal recessive semapv:UnspecifiedMatching MONDO:0012097 spondylocostal dysostosis 2, autosomal recessive skos:exactMatch UMLS:C1837549 semapv:UnspecifiedMatching MONDO:0012098 spinocerebellar ataxia type 20 skos:exactMatch DOID:0050971 spinocerebellar ataxia 20 semapv:UnspecifiedMatching MONDO:0012098 spinocerebellar ataxia type 20 skos:exactMatch MEDGEN:373352 semapv:UnspecifiedMatching MONDO:0012098 spinocerebellar ataxia type 20 skos:exactMatch OMIM:608687 spinocerebellar ataxia 20 semapv:UnspecifiedMatching MONDO:0012098 spinocerebellar ataxia type 20 skos:exactMatch Orphanet:101110 Spinocerebellar ataxia type 20 semapv:UnspecifiedMatching MONDO:0012098 spinocerebellar ataxia type 20 skos:exactMatch SCTID:718771009 semapv:UnspecifiedMatching MONDO:0012098 spinocerebellar ataxia type 20 skos:exactMatch UMLS:C1837541 semapv:UnspecifiedMatching MONDO:0012098 spinocerebellar ataxia type 20 skos:exactMatch icd11.foundation:960716995 Spinocerebellar ataxia type 20 semapv:UnspecifiedMatching MONDO:0012098 spinocerebellar ataxia type 20 skos:exactMatch mesh:C537199 semapv:UnspecifiedMatching MONDO:0012099 AICA-ribosiduria skos:exactMatch MEDGEN:332474 semapv:UnspecifiedMatching MONDO:0012099 AICA-ribosiduria skos:exactMatch OMIM:608688 aica-ribosiduria due to atic deficiency semapv:UnspecifiedMatching MONDO:0012099 AICA-ribosiduria skos:exactMatch Orphanet:250977 AICA-ribosiduria semapv:UnspecifiedMatching MONDO:0012099 AICA-ribosiduria skos:exactMatch SCTID:725289009 semapv:UnspecifiedMatching MONDO:0012099 AICA-ribosiduria skos:exactMatch UMLS:C1837530 semapv:UnspecifiedMatching MONDO:0012099 AICA-ribosiduria skos:exactMatch mesh:C563876 semapv:UnspecifiedMatching MONDO:0012100 major depressive disorder 2 skos:exactMatch MEDGEN:324819 semapv:UnspecifiedMatching MONDO:0012100 major depressive disorder 2 skos:exactMatch OMIM:608691 major depressive disorder 2 semapv:UnspecifiedMatching MONDO:0012100 major depressive disorder 2 skos:exactMatch UMLS:C1837529 semapv:UnspecifiedMatching MONDO:0012100 major depressive disorder 2 skos:exactMatch mesh:C563875 semapv:UnspecifiedMatching MONDO:0012101 glaucoma 1, open angle, J skos:exactMatch MEDGEN:324818 semapv:UnspecifiedMatching MONDO:0012101 glaucoma 1, open angle, J skos:exactMatch OMIM:608695 glaucoma 1, open angle, j semapv:UnspecifiedMatching MONDO:0012101 glaucoma 1, open angle, J skos:exactMatch UMLS:C1837528 semapv:UnspecifiedMatching MONDO:0012101 glaucoma 1, open angle, J skos:exactMatch mesh:C563874 semapv:UnspecifiedMatching MONDO:0012102 glaucoma 1, open angle, K skos:exactMatch MEDGEN:324817 semapv:UnspecifiedMatching MONDO:0012102 glaucoma 1, open angle, K skos:exactMatch OMIM:608696 glaucoma 1, open angle, k semapv:UnspecifiedMatching MONDO:0012102 glaucoma 1, open angle, K skos:exactMatch UMLS:C1837527 semapv:UnspecifiedMatching MONDO:0012102 glaucoma 1, open angle, K skos:exactMatch mesh:C563873 semapv:UnspecifiedMatching MONDO:0012103 spinocerebellar ataxia type 25 skos:exactMatch DOID:0050974 spinocerebellar ataxia 25 semapv:UnspecifiedMatching MONDO:0012103 spinocerebellar ataxia type 25 skos:exactMatch MEDGEN:373347 semapv:UnspecifiedMatching MONDO:0012103 spinocerebellar ataxia type 25 skos:exactMatch OMIM:608703 spinocerebellar ataxia 25 semapv:UnspecifiedMatching MONDO:0012103 spinocerebellar ataxia type 25 skos:exactMatch Orphanet:101111 Spinocerebellar ataxia type 25 semapv:UnspecifiedMatching MONDO:0012103 spinocerebellar ataxia type 25 skos:exactMatch SCTID:718770005 semapv:UnspecifiedMatching MONDO:0012103 spinocerebellar ataxia type 25 skos:exactMatch UMLS:C1837518 semapv:UnspecifiedMatching MONDO:0012103 spinocerebellar ataxia type 25 skos:exactMatch icd11.foundation:8347192 Spinocerebellar ataxia type 25 semapv:UnspecifiedMatching MONDO:0012103 spinocerebellar ataxia type 25 skos:exactMatch mesh:C537202 semapv:UnspecifiedMatching MONDO:0012104 acquired partial lipodystrophy skos:exactMatch MEDGEN:66352 semapv:UnspecifiedMatching MONDO:0012104 acquired partial lipodystrophy skos:exactMatch NCIT:C129723 Acquired Partial Lipodystrophy semapv:UnspecifiedMatching MONDO:0012104 acquired partial lipodystrophy skos:exactMatch Orphanet:79087 Acquired partial lipodystrophy semapv:UnspecifiedMatching MONDO:0012104 acquired partial lipodystrophy skos:exactMatch SCTID:75659004 semapv:UnspecifiedMatching MONDO:0012104 acquired partial lipodystrophy skos:exactMatch UMLS:C0220989 semapv:UnspecifiedMatching MONDO:0012104 acquired partial lipodystrophy skos:exactMatch icd11.foundation:2042663302 Acquired partial lipodystrophy semapv:UnspecifiedMatching MONDO:0012104 acquired partial lipodystrophy skos:exactMatch mesh:C562448 semapv:UnspecifiedMatching MONDO:0012105 granulomatosis with polyangiitis skos:exactMatch DOID:12132 granulomatosis with polyangiitis semapv:UnspecifiedMatching MONDO:0012105 granulomatosis with polyangiitis skos:exactMatch EFO:0005297 semapv:UnspecifiedMatching MONDO:0012105 granulomatosis with polyangiitis skos:exactMatch ICD10CM:M31.3 Wegener's granulomatosis semapv:UnspecifiedMatching MONDO:0012105 granulomatosis with polyangiitis skos:exactMatch MEDGEN:811223 semapv:UnspecifiedMatching MONDO:0012105 granulomatosis with polyangiitis skos:exactMatch NCIT:C123111 Pauci-Immune Glomerulonephritis associated with Granulomatosis with Polyangiitis semapv:UnspecifiedMatching MONDO:0012105 granulomatosis with polyangiitis skos:exactMatch NCIT:C3444 Granulomatosis with Polyangiitis semapv:UnspecifiedMatching MONDO:0012105 granulomatosis with polyangiitis skos:exactMatch OMIM:608710 granulomatosis with polyangiitis semapv:UnspecifiedMatching MONDO:0012105 granulomatosis with polyangiitis skos:exactMatch Orphanet:900 Granulomatosis with polyangiitis semapv:UnspecifiedMatching MONDO:0012105 granulomatosis with polyangiitis skos:exactMatch SCTID:195353004 semapv:UnspecifiedMatching MONDO:0012105 granulomatosis with polyangiitis skos:exactMatch UMLS:C3495801 semapv:UnspecifiedMatching MONDO:0012105 granulomatosis with polyangiitis skos:exactMatch icd11.foundation:1020056159 Granulomatosis with polyangiitis semapv:UnspecifiedMatching MONDO:0012105 granulomatosis with polyangiitis skos:exactMatch mesh:D014890 semapv:UnspecifiedMatching MONDO:0012106 microcephaly 5, primary, autosomal recessive skos:exactMatch DOID:0070280 primary autosomal recessive microcephaly 5 semapv:UnspecifiedMatching MONDO:0012106 microcephaly 5, primary, autosomal recessive skos:exactMatch MEDGEN:373344 semapv:UnspecifiedMatching MONDO:0012106 microcephaly 5, primary, autosomal recessive skos:exactMatch OMIM:608716 microcephaly 5, primary, autosomal recessive semapv:UnspecifiedMatching MONDO:0012106 microcephaly 5, primary, autosomal recessive skos:exactMatch UMLS:C1837501 semapv:UnspecifiedMatching MONDO:0012106 microcephaly 5, primary, autosomal recessive skos:exactMatch mesh:C563871 semapv:UnspecifiedMatching MONDO:0012107 neuropathy, hereditary sensory and autonomic, adult-onset, with anosmia skos:exactMatch MEDGEN:324809 semapv:UnspecifiedMatching MONDO:0012107 neuropathy, hereditary sensory and autonomic, adult-onset, with anosmia skos:exactMatch OMIM:608720 neuropathy, hereditary sensory and autonomic, adult-onset, with anosmia semapv:UnspecifiedMatching MONDO:0012107 neuropathy, hereditary sensory and autonomic, adult-onset, with anosmia skos:exactMatch UMLS:C1837492 semapv:UnspecifiedMatching MONDO:0012107 neuropathy, hereditary sensory and autonomic, adult-onset, with anosmia skos:exactMatch mesh:C563870 semapv:UnspecifiedMatching MONDO:0012108 spondyloepimetaphyseal dysplasia, matrilin-3 type skos:exactMatch MEDGEN:325181 semapv:UnspecifiedMatching MONDO:0012108 spondyloepimetaphyseal dysplasia, matrilin-3 type skos:exactMatch OMIM:608728 spondyloepimetaphyseal dysplasia, borochowitz-cormier-daire type semapv:UnspecifiedMatching MONDO:0012108 spondyloepimetaphyseal dysplasia, matrilin-3 type skos:exactMatch Orphanet:156728 Spondyloepimetaphyseal dysplasia, matrilin-3 type semapv:UnspecifiedMatching MONDO:0012108 spondyloepimetaphyseal dysplasia, matrilin-3 type skos:exactMatch SCTID:719166003 semapv:UnspecifiedMatching MONDO:0012108 spondyloepimetaphyseal dysplasia, matrilin-3 type skos:exactMatch UMLS:C1837481 semapv:UnspecifiedMatching MONDO:0012108 spondyloepimetaphyseal dysplasia, matrilin-3 type skos:exactMatch icd11.foundation:1983063881 Spondyloepimetaphyseal dysplasia, matrilin-3 type semapv:UnspecifiedMatching MONDO:0012108 spondyloepimetaphyseal dysplasia, matrilin-3 type skos:exactMatch mesh:C563869 semapv:UnspecifiedMatching MONDO:0012109 hypertension, essential, susceptibility to, 4 skos:exactMatch MEDGEN:325180 semapv:UnspecifiedMatching MONDO:0012109 hypertension, essential, susceptibility to, 4 skos:exactMatch OMIM:608742 hypertension, essential, susceptibility to, 4 semapv:UnspecifiedMatching MONDO:0012109 hypertension, essential, susceptibility to, 4 skos:exactMatch UMLS:C1837479 semapv:UnspecifiedMatching MONDO:0012110 growth delay due to insulin-like growth factor type 1 deficiency skos:exactMatch MEDGEN:373337 semapv:UnspecifiedMatching MONDO:0012110 growth delay due to insulin-like growth factor type 1 deficiency skos:exactMatch OMIM:608747 insulin-like growth factor 1 deficiency semapv:UnspecifiedMatching MONDO:0012110 growth delay due to insulin-like growth factor type 1 deficiency skos:exactMatch Orphanet:73272 Growth delay due to insulin-like growth factor type 1 deficiency semapv:UnspecifiedMatching MONDO:0012110 growth delay due to insulin-like growth factor type 1 deficiency skos:exactMatch SCTID:724385009 semapv:UnspecifiedMatching MONDO:0012110 growth delay due to insulin-like growth factor type 1 deficiency skos:exactMatch UMLS:C1837475 semapv:UnspecifiedMatching MONDO:0012110 growth delay due to insulin-like growth factor type 1 deficiency skos:exactMatch mesh:C563867 semapv:UnspecifiedMatching MONDO:0012111 hypertrophic cardiomyopathy 8 skos:exactMatch DOID:0110314 hypertrophic cardiomyopathy 8 semapv:UnspecifiedMatching MONDO:0012111 hypertrophic cardiomyopathy 8 skos:exactMatch MEDGEN:324806 semapv:UnspecifiedMatching MONDO:0012111 hypertrophic cardiomyopathy 8 skos:exactMatch OMIM:608751 cardiomyopathy, familial hypertrophic, 8 semapv:UnspecifiedMatching MONDO:0012111 hypertrophic cardiomyopathy 8 skos:exactMatch UMLS:C1837471 semapv:UnspecifiedMatching MONDO:0012111 hypertrophic cardiomyopathy 8 skos:exactMatch mesh:C563866 semapv:UnspecifiedMatching MONDO:0012112 hypertrophic cardiomyopathy 10 skos:exactMatch DOID:0110316 hypertrophic cardiomyopathy 10 semapv:UnspecifiedMatching MONDO:0012112 hypertrophic cardiomyopathy 10 skos:exactMatch MEDGEN:331754 semapv:UnspecifiedMatching MONDO:0012112 hypertrophic cardiomyopathy 10 skos:exactMatch OMIM:608758 cardiomyopathy, familial hypertrophic, 10 semapv:UnspecifiedMatching MONDO:0012112 hypertrophic cardiomyopathy 10 skos:exactMatch UMLS:C1834460 semapv:UnspecifiedMatching MONDO:0012112 hypertrophic cardiomyopathy 10 skos:exactMatch mesh:C563865 semapv:UnspecifiedMatching MONDO:0012113 epilepsy, idiopathic generalized, susceptibility to, 3 skos:exactMatch MEDGEN:373335 semapv:UnspecifiedMatching MONDO:0012113 epilepsy, idiopathic generalized, susceptibility to, 3 skos:exactMatch OMIM:608762 epilepsy, idiopathic generalized, susceptibility to, 3 semapv:UnspecifiedMatching MONDO:0012113 epilepsy, idiopathic generalized, susceptibility to, 3 skos:exactMatch UMLS:C1837468 semapv:UnspecifiedMatching MONDO:0012114 Ehlers-Danlos syndrome, Beasley-Cohen type skos:exactMatch MEDGEN:332459 semapv:UnspecifiedMatching MONDO:0012114 Ehlers-Danlos syndrome, Beasley-Cohen type skos:exactMatch OMIM:608763 ehlers-danlos syndrome, beasley-cohen type semapv:UnspecifiedMatching MONDO:0012114 Ehlers-Danlos syndrome, Beasley-Cohen type skos:exactMatch UMLS:C1837462 semapv:UnspecifiedMatching MONDO:0012114 Ehlers-Danlos syndrome, Beasley-Cohen type skos:exactMatch mesh:C536199 semapv:UnspecifiedMatching MONDO:0012115 scoliosis, isolated, susceptibility to, 3 skos:exactMatch MEDGEN:373333 semapv:UnspecifiedMatching MONDO:0012115 scoliosis, isolated, susceptibility to, 3 skos:exactMatch OMIM:608765 scoliosis, isolated, susceptibility to, 3 semapv:UnspecifiedMatching MONDO:0012115 scoliosis, isolated, susceptibility to, 3 skos:exactMatch UMLS:C1837461 semapv:UnspecifiedMatching MONDO:0012116 spinocerebellar ataxia type 8 skos:exactMatch DOID:0050959 spinocerebellar ataxia 8 semapv:UnspecifiedMatching MONDO:0012116 spinocerebellar ataxia type 8 skos:exactMatch MEDGEN:332457 semapv:UnspecifiedMatching MONDO:0012116 spinocerebellar ataxia type 8 skos:exactMatch OMIM:608768 spinocerebellar ataxia 8 semapv:UnspecifiedMatching MONDO:0012116 spinocerebellar ataxia type 8 skos:exactMatch Orphanet:98760 Spinocerebellar ataxia type 8 semapv:UnspecifiedMatching MONDO:0012116 spinocerebellar ataxia type 8 skos:exactMatch SCTID:715753001 semapv:UnspecifiedMatching MONDO:0012116 spinocerebellar ataxia type 8 skos:exactMatch UMLS:C1837454 semapv:UnspecifiedMatching MONDO:0012116 spinocerebellar ataxia type 8 skos:exactMatch icd11.foundation:1735913595 Spinocerebellar ataxia type 8 semapv:UnspecifiedMatching MONDO:0012117 ALG9-congenital disorder of glycosylation skos:exactMatch DOID:0080564 congenital disorder of glycosylation Il semapv:UnspecifiedMatching MONDO:0012117 ALG9-congenital disorder of glycosylation skos:exactMatch MEDGEN:443955 semapv:UnspecifiedMatching MONDO:0012117 ALG9-congenital disorder of glycosylation skos:exactMatch OMIM:608776 congenital disorder of glycosylation, type il semapv:UnspecifiedMatching MONDO:0012117 ALG9-congenital disorder of glycosylation skos:exactMatch Orphanet:79328 ALG9-CDG semapv:UnspecifiedMatching MONDO:0012117 ALG9-congenital disorder of glycosylation skos:exactMatch SCTID:720978005 semapv:UnspecifiedMatching MONDO:0012117 ALG9-congenital disorder of glycosylation skos:exactMatch UMLS:C2931006 semapv:UnspecifiedMatching MONDO:0012117 ALG9-congenital disorder of glycosylation skos:exactMatch mesh:C535750 semapv:UnspecifiedMatching MONDO:0012118 COG7-congenital disorder of glycosylation skos:exactMatch DOID:0070257 congenital disorder of glycosylation type IIe semapv:UnspecifiedMatching MONDO:0012118 COG7-congenital disorder of glycosylation skos:exactMatch MEDGEN:419311 semapv:UnspecifiedMatching MONDO:0012118 COG7-congenital disorder of glycosylation skos:exactMatch OMIM:608779 congenital disorder of glycosylation, type iie semapv:UnspecifiedMatching MONDO:0012118 COG7-congenital disorder of glycosylation skos:exactMatch Orphanet:79333 COG7-CDG semapv:UnspecifiedMatching MONDO:0012118 COG7-congenital disorder of glycosylation skos:exactMatch SCTID:717773005 semapv:UnspecifiedMatching MONDO:0012118 COG7-congenital disorder of glycosylation skos:exactMatch UMLS:C2931010 semapv:UnspecifiedMatching MONDO:0012118 COG7-congenital disorder of glycosylation skos:exactMatch mesh:C535754 semapv:UnspecifiedMatching MONDO:0012119 asperger syndrome, susceptibility to, 3 skos:exactMatch MEDGEN:373329 semapv:UnspecifiedMatching MONDO:0012119 asperger syndrome, susceptibility to, 3 skos:exactMatch OMIM:608781 asperger syndrome, susceptibility to, 3 semapv:UnspecifiedMatching MONDO:0012119 asperger syndrome, susceptibility to, 3 skos:exactMatch UMLS:C1837434 semapv:UnspecifiedMatching MONDO:0012120 pyruvate dehydrogenase phosphatase deficiency skos:exactMatch MEDGEN:332448 semapv:UnspecifiedMatching MONDO:0012120 pyruvate dehydrogenase phosphatase deficiency skos:exactMatch OMIM:608782 pyruvate dehydrogenase phosphatase deficiency semapv:UnspecifiedMatching MONDO:0012120 pyruvate dehydrogenase phosphatase deficiency skos:exactMatch Orphanet:79246 Pyruvate dehydrogenase phosphatase deficiency semapv:UnspecifiedMatching MONDO:0012120 pyruvate dehydrogenase phosphatase deficiency skos:exactMatch UMLS:C1837429 semapv:UnspecifiedMatching MONDO:0012120 pyruvate dehydrogenase phosphatase deficiency skos:exactMatch icd11.foundation:1709497558 Pyruvate dehydrogenase phosphatase deficiency semapv:UnspecifiedMatching MONDO:0012120 pyruvate dehydrogenase phosphatase deficiency skos:exactMatch mesh:C536258 semapv:UnspecifiedMatching MONDO:0012121 otosclerosis 5 skos:exactMatch DOID:0060924 otosclerosis 5 semapv:UnspecifiedMatching MONDO:0012121 otosclerosis 5 skos:exactMatch MEDGEN:325168 semapv:UnspecifiedMatching MONDO:0012121 otosclerosis 5 skos:exactMatch OMIM:608787 otosclerosis 5 semapv:UnspecifiedMatching MONDO:0012121 otosclerosis 5 skos:exactMatch UMLS:C1837422 semapv:UnspecifiedMatching MONDO:0012121 otosclerosis 5 skos:exactMatch mesh:C563858 semapv:UnspecifiedMatching MONDO:0012122 moyamoya disease 3 skos:exactMatch MEDGEN:373326 semapv:UnspecifiedMatching MONDO:0012122 moyamoya disease 3 skos:exactMatch OMIM:608796 moyamoya disease 3 semapv:UnspecifiedMatching MONDO:0012122 moyamoya disease 3 skos:exactMatch UMLS:C1837418 semapv:UnspecifiedMatching MONDO:0012122 moyamoya disease 3 skos:exactMatch mesh:C536993 semapv:UnspecifiedMatching MONDO:0012123 congenital disorder of glycosylation type 1E skos:exactMatch DOID:0080557 congenital disorder of glycosylation Ie semapv:UnspecifiedMatching MONDO:0012123 congenital disorder of glycosylation type 1E skos:exactMatch MEDGEN:324784 semapv:UnspecifiedMatching MONDO:0012123 congenital disorder of glycosylation type 1E skos:exactMatch NCIT:C126871 Congenital Disorder of Glycosylation Type Ie semapv:UnspecifiedMatching MONDO:0012123 congenital disorder of glycosylation type 1E skos:exactMatch OMIM:608799 congenital disorder of glycosylation, type ie semapv:UnspecifiedMatching MONDO:0012123 congenital disorder of glycosylation type 1E skos:exactMatch Orphanet:79322 DPM1-CDG semapv:UnspecifiedMatching MONDO:0012123 congenital disorder of glycosylation type 1E skos:exactMatch SCTID:725078006 semapv:UnspecifiedMatching MONDO:0012123 congenital disorder of glycosylation type 1E skos:exactMatch UMLS:C1837396 semapv:UnspecifiedMatching MONDO:0012123 congenital disorder of glycosylation type 1E skos:exactMatch mesh:C535743 semapv:UnspecifiedMatching MONDO:0012124 sudden infant death-dysgenesis of the testes syndrome skos:exactMatch MEDGEN:332428 semapv:UnspecifiedMatching MONDO:0012124 sudden infant death-dysgenesis of the testes syndrome skos:exactMatch OMIM:608800 sudden infant death with dysgenesis of the testes syndrome semapv:UnspecifiedMatching MONDO:0012124 sudden infant death-dysgenesis of the testes syndrome skos:exactMatch Orphanet:168593 Sudden infant death-dysgenesis of the testes syndrome semapv:UnspecifiedMatching MONDO:0012124 sudden infant death-dysgenesis of the testes syndrome skos:exactMatch UMLS:C1837371 semapv:UnspecifiedMatching MONDO:0012124 sudden infant death-dysgenesis of the testes syndrome skos:exactMatch mesh:C563856 semapv:UnspecifiedMatching MONDO:0012125 hypomyelinating leukodystrophy 2 skos:exactMatch DOID:0060787 hypomyelinating leukodystrophy 2 semapv:UnspecifiedMatching MONDO:0012125 hypomyelinating leukodystrophy 2 skos:exactMatch MEDGEN:325157 semapv:UnspecifiedMatching MONDO:0012125 hypomyelinating leukodystrophy 2 skos:exactMatch OMIM:608804 leukodystrophy, hypomyelinating, 2 semapv:UnspecifiedMatching MONDO:0012125 hypomyelinating leukodystrophy 2 skos:exactMatch Orphanet:280282 Pelizaeus-Merzbacher-like disease due to GJC2 mutation semapv:UnspecifiedMatching MONDO:0012125 hypomyelinating leukodystrophy 2 skos:exactMatch UMLS:C1837355 semapv:UnspecifiedMatching MONDO:0012125 hypomyelinating leukodystrophy 2 skos:exactMatch mesh:C563855 semapv:UnspecifiedMatching MONDO:0012126 familial avascular necrosis of femoral head skos:exactMatch MEDGEN:909851 semapv:UnspecifiedMatching MONDO:0012126 familial avascular necrosis of femoral head skos:exactMatch OMIMPS:608805 Avascular necrosis of femoral head, primary semapv:UnspecifiedMatching MONDO:0012126 familial avascular necrosis of femoral head skos:exactMatch Orphanet:86820 Familial avascular necrosis of femoral head semapv:UnspecifiedMatching MONDO:0012126 familial avascular necrosis of femoral head skos:exactMatch SCTID:715657008 semapv:UnspecifiedMatching MONDO:0012126 familial avascular necrosis of femoral head skos:exactMatch UMLS:C4275066 semapv:UnspecifiedMatching MONDO:0012126 familial avascular necrosis of femoral head skos:exactMatch icd11.foundation:1216860745 Familial avascular necrosis of femoral head semapv:UnspecifiedMatching MONDO:0012126 familial avascular necrosis of femoral head skos:exactMatch mesh:D005271 semapv:UnspecifiedMatching MONDO:0012127 autosomal recessive limb-girdle muscular dystrophy type 2J skos:exactMatch DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J semapv:UnspecifiedMatching MONDO:0012127 autosomal recessive limb-girdle muscular dystrophy type 2J skos:exactMatch MEDGEN:324741 semapv:UnspecifiedMatching MONDO:0012127 autosomal recessive limb-girdle muscular dystrophy type 2J skos:exactMatch OMIM:608807 muscular dystrophy, limb-girdle, autosomal recessive 10 semapv:UnspecifiedMatching MONDO:0012127 autosomal recessive limb-girdle muscular dystrophy type 2J skos:exactMatch Orphanet:140922 Titin-related limb-girdle muscular dystrophy R10 semapv:UnspecifiedMatching MONDO:0012127 autosomal recessive limb-girdle muscular dystrophy type 2J skos:exactMatch UMLS:C1837342 semapv:UnspecifiedMatching MONDO:0012127 autosomal recessive limb-girdle muscular dystrophy type 2J skos:exactMatch mesh:C563854 semapv:UnspecifiedMatching MONDO:0012128 obsolete transposition of the great arteries, dextro-looped skos:exactMatch DOID:0060771 obsolete dextro-looped transposition of the great arteries 1 semapv:UnspecifiedMatching MONDO:0012128 obsolete transposition of the great arteries, dextro-looped skos:exactMatch OMIM:608808 transposition of the great arteries, dextro-looped semapv:UnspecifiedMatching MONDO:0012128 obsolete transposition of the great arteries, dextro-looped skos:exactMatch mesh:C563853 semapv:UnspecifiedMatching MONDO:0012129 leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema skos:exactMatch MEDGEN:324768 semapv:UnspecifiedMatching MONDO:0012129 leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema skos:exactMatch OMIM:608809 leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema semapv:UnspecifiedMatching MONDO:0012129 leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema skos:exactMatch UMLS:C1837329 semapv:UnspecifiedMatching MONDO:0012129 leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema skos:exactMatch mesh:C563852 semapv:UnspecifiedMatching MONDO:0012130 myofibrillar myopathy 2 skos:exactMatch DOID:0080093 adult-onset myofibrillar myopathy 2A semapv:UnspecifiedMatching MONDO:0012130 myofibrillar myopathy 2 skos:exactMatch MEDGEN:324735 semapv:UnspecifiedMatching MONDO:0012130 myofibrillar myopathy 2 skos:exactMatch OMIM:608810 myopathy, myofibrillar, 2a, adult-onset semapv:UnspecifiedMatching MONDO:0012130 myofibrillar myopathy 2 skos:exactMatch Orphanet:399058 Alpha-B crystallin-related late-onset myopathy semapv:UnspecifiedMatching MONDO:0012130 myofibrillar myopathy 2 skos:exactMatch UMLS:C1837317 semapv:UnspecifiedMatching MONDO:0012130 myofibrillar myopathy 2 skos:exactMatch mesh:C563848 semapv:UnspecifiedMatching MONDO:0012131 metaphyseal undermodeling, spondylar dysplasia, and overgrowth skos:exactMatch MEDGEN:373306 semapv:UnspecifiedMatching MONDO:0012131 metaphyseal undermodeling, spondylar dysplasia, and overgrowth skos:exactMatch OMIM:608811 metaphyseal undermodeling, spondylar dysplasia, and overgrowth semapv:UnspecifiedMatching MONDO:0012131 metaphyseal undermodeling, spondylar dysplasia, and overgrowth skos:exactMatch Orphanet:498485 Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome semapv:UnspecifiedMatching MONDO:0012131 metaphyseal undermodeling, spondylar dysplasia, and overgrowth skos:exactMatch UMLS:C1837316 semapv:UnspecifiedMatching MONDO:0012131 metaphyseal undermodeling, spondylar dysplasia, and overgrowth skos:exactMatch mesh:C537355 semapv:UnspecifiedMatching MONDO:0012132 colorectal cancer, susceptibility to, 1 skos:exactMatch MEDGEN:324734 semapv:UnspecifiedMatching MONDO:0012132 colorectal cancer, susceptibility to, 1 skos:exactMatch OMIM:608812 colorectal cancer, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0012132 colorectal cancer, susceptibility to, 1 skos:exactMatch UMLS:C1837315 semapv:UnspecifiedMatching MONDO:0012133 lateral semicircular canal malformation, familial, with external and middle ear abnormalities skos:exactMatch MEDGEN:373305 semapv:UnspecifiedMatching MONDO:0012133 lateral semicircular canal malformation, familial, with external and middle ear abnormalities skos:exactMatch OMIM:608814 lateral semicircular canal malformation, familial, with external and middle ear abnormalities semapv:UnspecifiedMatching MONDO:0012133 lateral semicircular canal malformation, familial, with external and middle ear abnormalities skos:exactMatch UMLS:C1837314 semapv:UnspecifiedMatching MONDO:0012133 lateral semicircular canal malformation, familial, with external and middle ear abnormalities skos:exactMatch mesh:C537879 semapv:UnspecifiedMatching MONDO:0012134 myoclonic epilepsy, juvenile, susceptibility to, 3 skos:exactMatch DOID:0111326 juvenile myoclonic epilepsy 3 semapv:UnspecifiedMatching MONDO:0012134 myoclonic epilepsy, juvenile, susceptibility to, 3 skos:exactMatch MEDGEN:324732 semapv:UnspecifiedMatching MONDO:0012134 myoclonic epilepsy, juvenile, susceptibility to, 3 skos:exactMatch OMIM:608816 myoclonic epilepsy, juvenile, susceptibility to, 3 semapv:UnspecifiedMatching MONDO:0012134 myoclonic epilepsy, juvenile, susceptibility to, 3 skos:exactMatch UMLS:C1837308 semapv:UnspecifiedMatching MONDO:0012135 restless legs syndrome, susceptibility to, 2 skos:exactMatch MEDGEN:324722 semapv:UnspecifiedMatching MONDO:0012135 restless legs syndrome, susceptibility to, 2 skos:exactMatch OMIM:608831 restless legs syndrome, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0012135 restless legs syndrome, susceptibility to, 2 skos:exactMatch UMLS:C1837285 semapv:UnspecifiedMatching MONDO:0012136 carnitine palmitoyl transferase II deficiency, neonatal form skos:exactMatch MEDGEN:318896 semapv:UnspecifiedMatching MONDO:0012136 carnitine palmitoyl transferase II deficiency, neonatal form skos:exactMatch OMIM:608836 carnitine palmitoyltransferase 2 deficiency, lethal neonatal semapv:UnspecifiedMatching MONDO:0012136 carnitine palmitoyl transferase II deficiency, neonatal form skos:exactMatch Orphanet:228308 Carnitine palmitoyl transferase II deficiency, neonatal form semapv:UnspecifiedMatching MONDO:0012136 carnitine palmitoyl transferase II deficiency, neonatal form skos:exactMatch UMLS:C1833518 semapv:UnspecifiedMatching MONDO:0012136 carnitine palmitoyl transferase II deficiency, neonatal form skos:exactMatch mesh:C563463 semapv:UnspecifiedMatching MONDO:0012137 Carney complex - trismus - pseudocamptodactyly syndrome skos:exactMatch MEDGEN:332400 semapv:UnspecifiedMatching MONDO:0012137 Carney complex - trismus - pseudocamptodactyly syndrome skos:exactMatch OMIM:608837 carney complex variant semapv:UnspecifiedMatching MONDO:0012137 Carney complex - trismus - pseudocamptodactyly syndrome skos:exactMatch Orphanet:319340 Carney complex-trismus-pseudocamptodactyly syndrome semapv:UnspecifiedMatching MONDO:0012137 Carney complex - trismus - pseudocamptodactyly syndrome skos:exactMatch UMLS:C1837245 semapv:UnspecifiedMatching MONDO:0012138 muscular dystrophy-dystroglycanopathy type B6 skos:exactMatch DOID:0110637 muscular dystrophy-dystroglycanopathy type B6 semapv:UnspecifiedMatching MONDO:0012138 muscular dystrophy-dystroglycanopathy type B6 skos:exactMatch MEDGEN:373284 semapv:UnspecifiedMatching MONDO:0012138 muscular dystrophy-dystroglycanopathy type B6 skos:exactMatch OMIM:608840 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 6 semapv:UnspecifiedMatching MONDO:0012138 muscular dystrophy-dystroglycanopathy type B6 skos:exactMatch UMLS:C1837229 semapv:UnspecifiedMatching MONDO:0012138 muscular dystrophy-dystroglycanopathy type B6 skos:exactMatch mesh:C563844 semapv:UnspecifiedMatching MONDO:0012139 macular dystrophy, retinal, 3 skos:exactMatch DOID:0070440 retinal macular dystrophy 3 semapv:UnspecifiedMatching MONDO:0012139 macular dystrophy, retinal, 3 skos:exactMatch MEDGEN:854716 semapv:UnspecifiedMatching MONDO:0012139 macular dystrophy, retinal, 3 skos:exactMatch OMIM:608850 macular dystrophy, retinal, 3 semapv:UnspecifiedMatching MONDO:0012139 macular dystrophy, retinal, 3 skos:exactMatch UMLS:C3888009 semapv:UnspecifiedMatching MONDO:0012140 obsolete pulmonary function skos:exactMatch OMIM:608852 pulmonary function semapv:UnspecifiedMatching MONDO:0012141 orofacial cleft 6, susceptibility to skos:exactMatch DOID:0080593 orofacial cleft 6 semapv:UnspecifiedMatching MONDO:0012141 orofacial cleft 6, susceptibility to skos:exactMatch MEDGEN:332391 semapv:UnspecifiedMatching MONDO:0012141 orofacial cleft 6, susceptibility to skos:exactMatch OMIM:608864 orofacial cleft 6, susceptibility to semapv:UnspecifiedMatching MONDO:0012141 orofacial cleft 6, susceptibility to skos:exactMatch UMLS:C1837213 semapv:UnspecifiedMatching MONDO:0012142 orofacial cleft 5 skos:exactMatch DOID:0080399 orofacial cleft 5 semapv:UnspecifiedMatching MONDO:0012142 orofacial cleft 5 skos:exactMatch MEDGEN:373280 semapv:UnspecifiedMatching MONDO:0012142 orofacial cleft 5 skos:exactMatch OMIM:608874 orofacial cleft 5 semapv:UnspecifiedMatching MONDO:0012142 orofacial cleft 5 skos:exactMatch UMLS:C1837210 semapv:UnspecifiedMatching MONDO:0012142 orofacial cleft 5 skos:exactMatch mesh:C563843 semapv:UnspecifiedMatching MONDO:0012143 hereditary cryohydrocytosis with reduced stomatin skos:exactMatch MEDGEN:332390 semapv:UnspecifiedMatching MONDO:0012143 hereditary cryohydrocytosis with reduced stomatin skos:exactMatch OMIM:608885 stomatin-deficient cryohydrocytosis with neurologic defects semapv:UnspecifiedMatching MONDO:0012143 hereditary cryohydrocytosis with reduced stomatin skos:exactMatch Orphanet:168577 Hereditary cryohydrocytosis with reduced stomatin semapv:UnspecifiedMatching MONDO:0012143 hereditary cryohydrocytosis with reduced stomatin skos:exactMatch UMLS:C1837206 semapv:UnspecifiedMatching MONDO:0012143 hereditary cryohydrocytosis with reduced stomatin skos:exactMatch icd11.foundation:1459095719 Hereditary cryohydrocytosis with reduced stomatin semapv:UnspecifiedMatching MONDO:0012143 hereditary cryohydrocytosis with reduced stomatin skos:exactMatch mesh:C563840 semapv:UnspecifiedMatching MONDO:0012144 Waardenburg syndrome type 2D skos:exactMatch DOID:0110952 obsolete Waardenburg syndrome type 2D semapv:UnspecifiedMatching MONDO:0012144 Waardenburg syndrome type 2D skos:exactMatch MEDGEN:323102 semapv:UnspecifiedMatching MONDO:0012144 Waardenburg syndrome type 2D skos:exactMatch UMLS:C1837203 semapv:UnspecifiedMatching MONDO:0012144 Waardenburg syndrome type 2D skos:exactMatch mesh:C563839 semapv:UnspecifiedMatching MONDO:0012145 macular degeneration, age-related, 3 skos:exactMatch MEDGEN:373276 semapv:UnspecifiedMatching MONDO:0012145 macular degeneration, age-related, 3 skos:exactMatch OMIM:608895 macular degeneration, age-related, 3 semapv:UnspecifiedMatching MONDO:0012145 macular degeneration, age-related, 3 skos:exactMatch UMLS:C1837187 semapv:UnspecifiedMatching MONDO:0012145 macular degeneration, age-related, 3 skos:exactMatch mesh:C563838 semapv:UnspecifiedMatching MONDO:0012146 familial hemophagocytic lymphohistiocytosis 3 skos:exactMatch DOID:0110923 familial hemophagocytic lymphohistiocytosis 3 semapv:UnspecifiedMatching MONDO:0012146 familial hemophagocytic lymphohistiocytosis 3 skos:exactMatch MEDGEN:332383 semapv:UnspecifiedMatching MONDO:0012146 familial hemophagocytic lymphohistiocytosis 3 skos:exactMatch OMIM:608898 hemophagocytic lymphohistiocytosis, familial, 3 semapv:UnspecifiedMatching MONDO:0012146 familial hemophagocytic lymphohistiocytosis 3 skos:exactMatch UMLS:C1837174 semapv:UnspecifiedMatching MONDO:0012146 familial hemophagocytic lymphohistiocytosis 3 skos:exactMatch mesh:C537251 semapv:UnspecifiedMatching MONDO:0012147 coronary heart disease, susceptibility to, 5 skos:exactMatch MEDGEN:323093 semapv:UnspecifiedMatching MONDO:0012147 coronary heart disease, susceptibility to, 5 skos:exactMatch OMIM:608901 coronary heart disease, susceptibility to, 5 semapv:UnspecifiedMatching MONDO:0012147 coronary heart disease, susceptibility to, 5 skos:exactMatch UMLS:C1837173 semapv:UnspecifiedMatching MONDO:0012148 obsolete drug metabolism, poor, CYP2D6-related skos:exactMatch OMIM:608902 drug metabolism, altered, cyp2d6-related semapv:UnspecifiedMatching MONDO:0012148 obsolete drug metabolism, poor, CYP2D6-related skos:exactMatch mesh:C563835 semapv:UnspecifiedMatching MONDO:0012149 attention deficit-hyperactivity disorder, susceptibility to, 1 skos:exactMatch MEDGEN:323087 semapv:UnspecifiedMatching MONDO:0012149 attention deficit-hyperactivity disorder, susceptibility to, 1 skos:exactMatch OMIM:608903 attention deficit-hyperactivity disorder, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0012149 attention deficit-hyperactivity disorder, susceptibility to, 1 skos:exactMatch UMLS:C1837153 semapv:UnspecifiedMatching MONDO:0012150 attention deficit-hyperactivity disorder, susceptibility to, 2 skos:exactMatch MEDGEN:323086 semapv:UnspecifiedMatching MONDO:0012150 attention deficit-hyperactivity disorder, susceptibility to, 2 skos:exactMatch OMIM:608904 attention deficit-hyperactivity disorder, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0012150 attention deficit-hyperactivity disorder, susceptibility to, 2 skos:exactMatch UMLS:C1837152 semapv:UnspecifiedMatching MONDO:0012151 attention deficit-hyperactivity disorder, susceptibility to, 3 skos:exactMatch MEDGEN:323085 semapv:UnspecifiedMatching MONDO:0012151 attention deficit-hyperactivity disorder, susceptibility to, 3 skos:exactMatch OMIM:608905 attention deficit-hyperactivity disorder, susceptibility to, 3 semapv:UnspecifiedMatching MONDO:0012151 attention deficit-hyperactivity disorder, susceptibility to, 3 skos:exactMatch UMLS:C1837151 semapv:UnspecifiedMatching MONDO:0012152 attention deficit-hyperactivity disorder, susceptibility to, 4 skos:exactMatch MEDGEN:373267 semapv:UnspecifiedMatching MONDO:0012152 attention deficit-hyperactivity disorder, susceptibility to, 4 skos:exactMatch OMIM:608906 attention deficit-hyperactivity disorder, susceptibility to, 4 semapv:UnspecifiedMatching MONDO:0012152 attention deficit-hyperactivity disorder, susceptibility to, 4 skos:exactMatch UMLS:C1837150 semapv:UnspecifiedMatching MONDO:0012153 Alzheimer disease 9 skos:exactMatch DOID:0111364 Alzheimer's disease 9 semapv:UnspecifiedMatching MONDO:0012153 Alzheimer disease 9 skos:exactMatch MEDGEN:924255 semapv:UnspecifiedMatching MONDO:0012153 Alzheimer disease 9 skos:exactMatch OMIM:608907 alzheimer disease 9, susceptibility to semapv:UnspecifiedMatching MONDO:0012153 Alzheimer disease 9 skos:exactMatch UMLS:C4282179 semapv:UnspecifiedMatching MONDO:0012153 Alzheimer disease 9 skos:exactMatch mesh:C563834 semapv:UnspecifiedMatching MONDO:0012154 myopia 6 skos:exactMatch MEDGEN:324696 semapv:UnspecifiedMatching MONDO:0012154 myopia 6 skos:exactMatch OMIM:608908 myopia 6 semapv:UnspecifiedMatching MONDO:0012154 myopia 6 skos:exactMatch UMLS:C1837148 semapv:UnspecifiedMatching MONDO:0012154 myopia 6 skos:exactMatch mesh:C536105 semapv:UnspecifiedMatching MONDO:0012155 choanal atresia skos:exactMatch DOID:9574 choanal atresia semapv:UnspecifiedMatching MONDO:0012155 choanal atresia skos:exactMatch ICD10CM:Q30.0 Choanal atresia semapv:UnspecifiedMatching MONDO:0012155 choanal atresia skos:exactMatch MEDGEN:3395 semapv:UnspecifiedMatching MONDO:0012155 choanal atresia skos:exactMatch OMIM:608911 choanal atresia, posterior semapv:UnspecifiedMatching MONDO:0012155 choanal atresia skos:exactMatch Orphanet:137914 Choanal atresia semapv:UnspecifiedMatching MONDO:0012155 choanal atresia skos:exactMatch SCTID:204508009 semapv:UnspecifiedMatching MONDO:0012155 choanal atresia skos:exactMatch UMLS:C0008297 semapv:UnspecifiedMatching MONDO:0012155 choanal atresia skos:exactMatch icd11.foundation:2099486655 Choanal atresia semapv:UnspecifiedMatching MONDO:0012155 choanal atresia skos:exactMatch mesh:D002754 semapv:UnspecifiedMatching MONDO:0012156 myasthenic syndrome, congenital, 1B, fast-channel skos:exactMatch DOID:0110662 congenital myasthenic syndrome 1B semapv:UnspecifiedMatching MONDO:0012156 myasthenic syndrome, congenital, 1B, fast-channel skos:exactMatch MEDGEN:909200 semapv:UnspecifiedMatching MONDO:0012156 myasthenic syndrome, congenital, 1B, fast-channel skos:exactMatch OMIM:608930 myasthenic syndrome, congenital, 1b, fast-channel semapv:UnspecifiedMatching MONDO:0012156 myasthenic syndrome, congenital, 1B, fast-channel skos:exactMatch UMLS:C4225405 semapv:UnspecifiedMatching MONDO:0012157 congenital myasthenic syndrome 4C skos:exactMatch DOID:0110679 congenital myasthenic syndrome 4C semapv:UnspecifiedMatching MONDO:0012157 congenital myasthenic syndrome 4C skos:exactMatch MEDGEN:373251 semapv:UnspecifiedMatching MONDO:0012157 congenital myasthenic syndrome 4C skos:exactMatch OMIM:608931 myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency semapv:UnspecifiedMatching MONDO:0012157 congenital myasthenic syndrome 4C skos:exactMatch UMLS:C1837091 semapv:UnspecifiedMatching MONDO:0012158 keratoconus 2 skos:exactMatch MEDGEN:332363 semapv:UnspecifiedMatching MONDO:0012158 keratoconus 2 skos:exactMatch OMIM:608932 keratoconus 2 semapv:UnspecifiedMatching MONDO:0012158 keratoconus 2 skos:exactMatch UMLS:C1837090 semapv:UnspecifiedMatching MONDO:0012158 keratoconus 2 skos:exactMatch mesh:C563827 semapv:UnspecifiedMatching MONDO:0012159 lung cancer susceptibility 1 skos:exactMatch MEDGEN:373250 semapv:UnspecifiedMatching MONDO:0012159 lung cancer susceptibility 1 skos:exactMatch OMIM:608935 lung cancer susceptibility 1 semapv:UnspecifiedMatching MONDO:0012159 lung cancer susceptibility 1 skos:exactMatch UMLS:C1837089 semapv:UnspecifiedMatching MONDO:0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome skos:exactMatch DOID:0112300 spondylometaphyseal dysplasia with cone-rod dystrophy semapv:UnspecifiedMatching MONDO:0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome skos:exactMatch MEDGEN:324684 semapv:UnspecifiedMatching MONDO:0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome skos:exactMatch OMIM:608940 spondylometaphyseal dysplasia with cone-rod dystrophy semapv:UnspecifiedMatching MONDO:0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome skos:exactMatch Orphanet:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome semapv:UnspecifiedMatching MONDO:0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome skos:exactMatch UMLS:C1837073 semapv:UnspecifiedMatching MONDO:0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome skos:exactMatch mesh:C563825 semapv:UnspecifiedMatching MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation skos:exactMatch DOID:0061082 immunodeficiency 116 semapv:UnspecifiedMatching MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation skos:exactMatch MEDGEN:323058 semapv:UnspecifiedMatching MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation skos:exactMatch OMIM:608957 immunodeficiency 116 semapv:UnspecifiedMatching MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation skos:exactMatch Orphanet:169085 Susceptibility to respiratory infections associated with CD8alpha chain mutation semapv:UnspecifiedMatching MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation skos:exactMatch SCTID:766983005 semapv:UnspecifiedMatching MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation skos:exactMatch UMLS:C1837065 semapv:UnspecifiedMatching MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation skos:exactMatch mesh:C563824 semapv:UnspecifiedMatching MONDO:0012162 patterned macular dystrophy 2 skos:exactMatch DOID:0060864 patterned macular dystrophy 2 semapv:UnspecifiedMatching MONDO:0012162 patterned macular dystrophy 2 skos:exactMatch MEDGEN:332348 semapv:UnspecifiedMatching MONDO:0012162 patterned macular dystrophy 2 skos:exactMatch OMIM:608970 macular dystrophy, patterned, 2 semapv:UnspecifiedMatching MONDO:0012162 patterned macular dystrophy 2 skos:exactMatch UMLS:C1837029 semapv:UnspecifiedMatching MONDO:0012163 immunodeficiency 104 skos:exactMatch DOID:0090014 severe combined immunodeficiency 104 semapv:UnspecifiedMatching MONDO:0012163 immunodeficiency 104 skos:exactMatch MEDGEN:1801019 semapv:UnspecifiedMatching MONDO:0012163 immunodeficiency 104 skos:exactMatch OMIM:608971 immunodeficiency 104, severe combined semapv:UnspecifiedMatching MONDO:0012163 immunodeficiency 104 skos:exactMatch UMLS:C5676890 semapv:UnspecifiedMatching MONDO:0012163 immunodeficiency 104 skos:exactMatch mesh:C563822 semapv:UnspecifiedMatching MONDO:0012164 Meacham syndrome skos:exactMatch MEDGEN:373234 semapv:UnspecifiedMatching MONDO:0012164 Meacham syndrome skos:exactMatch OMIM:608978 meacham syndrome semapv:UnspecifiedMatching MONDO:0012164 Meacham syndrome skos:exactMatch Orphanet:3097 Meacham syndrome semapv:UnspecifiedMatching MONDO:0012164 Meacham syndrome skos:exactMatch SCTID:722461004 semapv:UnspecifiedMatching MONDO:0012164 Meacham syndrome skos:exactMatch UMLS:C1837026 semapv:UnspecifiedMatching MONDO:0012164 Meacham syndrome skos:exactMatch icd11.foundation:1307620543 Meacham syndrome semapv:UnspecifiedMatching MONDO:0012164 Meacham syndrome skos:exactMatch mesh:C538162 semapv:UnspecifiedMatching MONDO:0012165 BNAR syndrome skos:exactMatch MEDGEN:413305 semapv:UnspecifiedMatching MONDO:0012165 BNAR syndrome skos:exactMatch OMIM:608980 bifid nose with or without anorectal and renal anomalies semapv:UnspecifiedMatching MONDO:0012165 BNAR syndrome skos:exactMatch Orphanet:217266 BNAR syndrome semapv:UnspecifiedMatching MONDO:0012165 BNAR syndrome skos:exactMatch SCTID:717940006 semapv:UnspecifiedMatching MONDO:0012165 BNAR syndrome skos:exactMatch UMLS:C2750433 semapv:UnspecifiedMatching MONDO:0012165 BNAR syndrome skos:exactMatch mesh:C567672 semapv:UnspecifiedMatching MONDO:0012166 autosomal dominant sensory ataxia 1 skos:exactMatch DOID:0111170 autosomal dominant sensory ataxia 1 semapv:UnspecifiedMatching MONDO:0012166 autosomal dominant sensory ataxia 1 skos:exactMatch MEDGEN:332346 semapv:UnspecifiedMatching MONDO:0012166 autosomal dominant sensory ataxia 1 skos:exactMatch OMIM:608984 ataxia, sensory, 1, autosomal dominant semapv:UnspecifiedMatching MONDO:0012166 autosomal dominant sensory ataxia 1 skos:exactMatch UMLS:C1837015 semapv:UnspecifiedMatching MONDO:0012167 atrial fibrillation, familial, 2 skos:exactMatch MEDGEN:324886 semapv:UnspecifiedMatching MONDO:0012167 atrial fibrillation, familial, 2 skos:exactMatch OMIM:608988 atrial fibrillation, familial, 2 semapv:UnspecifiedMatching MONDO:0012167 atrial fibrillation, familial, 2 skos:exactMatch UMLS:C1837812 semapv:UnspecifiedMatching MONDO:0012167 atrial fibrillation, familial, 2 skos:exactMatch mesh:C563903 semapv:UnspecifiedMatching MONDO:0012168 dyslexia, susceptibility to, 8 skos:exactMatch MEDGEN:332344 semapv:UnspecifiedMatching MONDO:0012168 dyslexia, susceptibility to, 8 skos:exactMatch OMIM:608995 dyslexia, susceptibility to, 8 semapv:UnspecifiedMatching MONDO:0012168 dyslexia, susceptibility to, 8 skos:exactMatch UMLS:C1837009 semapv:UnspecifiedMatching MONDO:0012169 premature ovarian failure 3 skos:exactMatch DOID:0080860 primary ovarian insufficiency 3 semapv:UnspecifiedMatching MONDO:0012169 premature ovarian failure 3 skos:exactMatch MEDGEN:373230 semapv:UnspecifiedMatching MONDO:0012169 premature ovarian failure 3 skos:exactMatch OMIM:608996 premature ovarian failure 3 semapv:UnspecifiedMatching MONDO:0012169 premature ovarian failure 3 skos:exactMatch UMLS:C1837008 semapv:UnspecifiedMatching MONDO:0012169 premature ovarian failure 3 skos:exactMatch mesh:C563816 semapv:UnspecifiedMatching MONDO:0012170 autosomal recessive nonsyndromic hearing loss 36 skos:exactMatch DOID:0110494 autosomal recessive nonsyndromic deafness 36 semapv:UnspecifiedMatching MONDO:0012170 autosomal recessive nonsyndromic hearing loss 36 skos:exactMatch MEDGEN:324662 semapv:UnspecifiedMatching MONDO:0012170 autosomal recessive nonsyndromic hearing loss 36 skos:exactMatch OMIM:609006 deafness, autosomal recessive 36, with or without vestibular involvement semapv:UnspecifiedMatching MONDO:0012170 autosomal recessive nonsyndromic hearing loss 36 skos:exactMatch UMLS:C1837007 semapv:UnspecifiedMatching MONDO:0012170 autosomal recessive nonsyndromic hearing loss 36 skos:exactMatch mesh:C563815 semapv:UnspecifiedMatching MONDO:0012171 marfanoid habitus with situs inversus skos:exactMatch MEDGEN:323046 semapv:UnspecifiedMatching MONDO:0012171 marfanoid habitus with situs inversus skos:exactMatch OMIM:609008 marfanoid habitus with situs inversus semapv:UnspecifiedMatching MONDO:0012171 marfanoid habitus with situs inversus skos:exactMatch UMLS:C1836994 semapv:UnspecifiedMatching MONDO:0012171 marfanoid habitus with situs inversus skos:exactMatch mesh:C563814 semapv:UnspecifiedMatching MONDO:0012172 mitochondrial trifunctional protein deficiency skos:exactMatch DOID:0111277 mitochondrial trifunctional protein deficiency semapv:UnspecifiedMatching MONDO:0012172 mitochondrial trifunctional protein deficiency skos:exactMatch MEDGEN:370665 semapv:UnspecifiedMatching MONDO:0012172 mitochondrial trifunctional protein deficiency skos:exactMatch NCIT:C98991 Mitochondrial Trifunctional Protein Deficiency semapv:UnspecifiedMatching MONDO:0012172 mitochondrial trifunctional protein deficiency skos:exactMatch OMIMPS:609015 Mitochondrial trifunctional protein deficiency semapv:UnspecifiedMatching MONDO:0012172 mitochondrial trifunctional protein deficiency skos:exactMatch Orphanet:746 Mitochondrial trifunctional protein deficiency semapv:UnspecifiedMatching MONDO:0012172 mitochondrial trifunctional protein deficiency skos:exactMatch SCTID:237999008 semapv:UnspecifiedMatching MONDO:0012172 mitochondrial trifunctional protein deficiency skos:exactMatch UMLS:C1969443 semapv:UnspecifiedMatching MONDO:0012172 mitochondrial trifunctional protein deficiency skos:exactMatch icd11.foundation:1018083832 Mitochondrial trifunctional protein deficiency semapv:UnspecifiedMatching MONDO:0012172 mitochondrial trifunctional protein deficiency skos:exactMatch mesh:C566945 semapv:UnspecifiedMatching MONDO:0012173 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency skos:exactMatch DOID:0061186 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0012173 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency skos:exactMatch MEDGEN:778253 semapv:UnspecifiedMatching MONDO:0012173 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency skos:exactMatch NCIT:C129929 Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency semapv:UnspecifiedMatching MONDO:0012173 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency skos:exactMatch OMIM:609016 long-chain 3-hydroxyacyl-coa dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0012173 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency skos:exactMatch Orphanet:5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0012173 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency skos:exactMatch SCTID:726021008 semapv:UnspecifiedMatching MONDO:0012173 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency skos:exactMatch UMLS:C3711645 semapv:UnspecifiedMatching MONDO:0012173 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency skos:exactMatch icd11.foundation:760613381 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0012174 peripheral cone dystrophy skos:exactMatch MEDGEN:323031 semapv:UnspecifiedMatching MONDO:0012174 peripheral cone dystrophy skos:exactMatch OMIM:609021 peripheral cone dystrophy semapv:UnspecifiedMatching MONDO:0012174 peripheral cone dystrophy skos:exactMatch UMLS:C1836946 semapv:UnspecifiedMatching MONDO:0012174 peripheral cone dystrophy skos:exactMatch mesh:C563813 semapv:UnspecifiedMatching MONDO:0012175 cataract 28 skos:exactMatch DOID:0110244 cataract 28 semapv:UnspecifiedMatching MONDO:0012175 cataract 28 skos:exactMatch MEDGEN:373214 semapv:UnspecifiedMatching MONDO:0012175 cataract 28 skos:exactMatch OMIM:609026 cataract 28 semapv:UnspecifiedMatching MONDO:0012175 cataract 28 skos:exactMatch UMLS:C1836942 semapv:UnspecifiedMatching MONDO:0012175 cataract 28 skos:exactMatch mesh:C563812 semapv:UnspecifiedMatching MONDO:0012176 Emanuel syndrome skos:exactMatch MEDGEN:323030 semapv:UnspecifiedMatching MONDO:0012176 Emanuel syndrome skos:exactMatch OMIM:609029 emanuel syndrome semapv:UnspecifiedMatching MONDO:0012176 Emanuel syndrome skos:exactMatch Orphanet:96170 Emanuel syndrome semapv:UnspecifiedMatching MONDO:0012176 Emanuel syndrome skos:exactMatch SCTID:702417004 semapv:UnspecifiedMatching MONDO:0012176 Emanuel syndrome skos:exactMatch UMLS:C1836929 semapv:UnspecifiedMatching MONDO:0012176 Emanuel syndrome skos:exactMatch mesh:C535733 semapv:UnspecifiedMatching MONDO:0012177 posterior column ataxia-retinitis pigmentosa syndrome skos:exactMatch DOID:0061157 retinopathy sensory neuropathy syndrome semapv:UnspecifiedMatching MONDO:0012177 posterior column ataxia-retinitis pigmentosa syndrome skos:exactMatch MEDGEN:324636 semapv:UnspecifiedMatching MONDO:0012177 posterior column ataxia-retinitis pigmentosa syndrome skos:exactMatch OMIM:609033 retinopathy-sensory neuropathy syndrome semapv:UnspecifiedMatching MONDO:0012177 posterior column ataxia-retinitis pigmentosa syndrome skos:exactMatch Orphanet:88628 Posterior column ataxia-retinitis pigmentosa syndrome semapv:UnspecifiedMatching MONDO:0012177 posterior column ataxia-retinitis pigmentosa syndrome skos:exactMatch SCTID:724065003 semapv:UnspecifiedMatching MONDO:0012177 posterior column ataxia-retinitis pigmentosa syndrome skos:exactMatch UMLS:C1836916 semapv:UnspecifiedMatching MONDO:0012177 posterior column ataxia-retinitis pigmentosa syndrome skos:exactMatch mesh:C536343 semapv:UnspecifiedMatching MONDO:0012178 intellectual disability with optic atrophy, facial dysmorphism, microcephaly, and short stature skos:exactMatch MEDGEN:324635 semapv:UnspecifiedMatching MONDO:0012178 intellectual disability with optic atrophy, facial dysmorphism, microcephaly, and short stature skos:exactMatch OMIM:609037 intellectual developmental disorder with optic atrophy, facial dysmorphism, microcephaly, and short stature semapv:UnspecifiedMatching MONDO:0012178 intellectual disability with optic atrophy, facial dysmorphism, microcephaly, and short stature skos:exactMatch UMLS:C1836915 semapv:UnspecifiedMatching MONDO:0012178 intellectual disability with optic atrophy, facial dysmorphism, microcephaly, and short stature skos:exactMatch mesh:C563810 semapv:UnspecifiedMatching MONDO:0012179 narcolepsy 3 skos:exactMatch MEDGEN:332320 semapv:UnspecifiedMatching MONDO:0012179 narcolepsy 3 skos:exactMatch OMIM:609039 narcolepsy 3 semapv:UnspecifiedMatching MONDO:0012179 narcolepsy 3 skos:exactMatch UMLS:C1836907 semapv:UnspecifiedMatching MONDO:0012180 arrhythmogenic right ventricular dysplasia 9 skos:exactMatch DOID:0110077 arrhythmogenic right ventricular dysplasia 9 semapv:UnspecifiedMatching MONDO:0012180 arrhythmogenic right ventricular dysplasia 9 skos:exactMatch MEDGEN:373205 semapv:UnspecifiedMatching MONDO:0012180 arrhythmogenic right ventricular dysplasia 9 skos:exactMatch OMIM:609040 arrhythmogenic right ventricular dysplasia, familial, 9 semapv:UnspecifiedMatching MONDO:0012180 arrhythmogenic right ventricular dysplasia 9 skos:exactMatch UMLS:C1836906 semapv:UnspecifiedMatching MONDO:0012180 arrhythmogenic right ventricular dysplasia 9 skos:exactMatch mesh:C563808 semapv:UnspecifiedMatching MONDO:0012181 hereditary spastic paraplegia 27 skos:exactMatch DOID:0110778 hereditary spastic paraplegia 27 semapv:UnspecifiedMatching MONDO:0012181 hereditary spastic paraplegia 27 skos:exactMatch MEDGEN:373203 semapv:UnspecifiedMatching MONDO:0012181 hereditary spastic paraplegia 27 skos:exactMatch OMIM:609041 spastic paraplegia 27, autosomal recessive semapv:UnspecifiedMatching MONDO:0012181 hereditary spastic paraplegia 27 skos:exactMatch Orphanet:101007 Autosomal recessive spastic paraplegia type 27 semapv:UnspecifiedMatching MONDO:0012181 hereditary spastic paraplegia 27 skos:exactMatch UMLS:C1836899 semapv:UnspecifiedMatching MONDO:0012181 hereditary spastic paraplegia 27 skos:exactMatch mesh:C563807 semapv:UnspecifiedMatching MONDO:0012182 skeletal dysplasia, rhizomelic, with retinitis pigmentosa skos:exactMatch MEDGEN:332318 semapv:UnspecifiedMatching MONDO:0012182 skeletal dysplasia, rhizomelic, with retinitis pigmentosa skos:exactMatch OMIM:609047 skeletal dysplasia, rhizomelic, with retinitis pigmentosa semapv:UnspecifiedMatching MONDO:0012182 skeletal dysplasia, rhizomelic, with retinitis pigmentosa skos:exactMatch UMLS:C1836898 semapv:UnspecifiedMatching MONDO:0012182 skeletal dysplasia, rhizomelic, with retinitis pigmentosa skos:exactMatch mesh:C563806 semapv:UnspecifiedMatching MONDO:0012183 melanoma, cutaneous malignant, susceptibility to, 3 skos:exactMatch MEDGEN:373202 semapv:UnspecifiedMatching MONDO:0012183 melanoma, cutaneous malignant, susceptibility to, 3 skos:exactMatch OMIM:609048 melanoma, cutaneous malignant, susceptibility to, 3 semapv:UnspecifiedMatching MONDO:0012183 melanoma, cutaneous malignant, susceptibility to, 3 skos:exactMatch UMLS:C1836892 semapv:UnspecifiedMatching MONDO:0012184 Pierson syndrome skos:exactMatch DOID:0060852 Pierson syndrome semapv:UnspecifiedMatching MONDO:0012184 Pierson syndrome skos:exactMatch MEDGEN:373199 semapv:UnspecifiedMatching MONDO:0012184 Pierson syndrome skos:exactMatch NCIT:C128145 Pierson Syndrome semapv:UnspecifiedMatching MONDO:0012184 Pierson syndrome skos:exactMatch OMIM:609049 pierson syndrome semapv:UnspecifiedMatching MONDO:0012184 Pierson syndrome skos:exactMatch Orphanet:2670 Pierson syndrome semapv:UnspecifiedMatching MONDO:0012184 Pierson syndrome skos:exactMatch SCTID:723449004 semapv:UnspecifiedMatching MONDO:0012184 Pierson syndrome skos:exactMatch UMLS:C1836876 semapv:UnspecifiedMatching MONDO:0012184 Pierson syndrome skos:exactMatch icd11.foundation:555082533 Pierson syndrome semapv:UnspecifiedMatching MONDO:0012184 Pierson syndrome skos:exactMatch mesh:C537185 semapv:UnspecifiedMatching MONDO:0012185 spondylometaphyseal dysplasia, A4 type skos:exactMatch DOID:0112301 spondylometaphyseal dysplasia type A4 semapv:UnspecifiedMatching MONDO:0012185 spondylometaphyseal dysplasia, A4 type skos:exactMatch MEDGEN:324620 semapv:UnspecifiedMatching MONDO:0012185 spondylometaphyseal dysplasia, A4 type skos:exactMatch OMIM:609052 spondylometaphyseal dysplasia, type a4 semapv:UnspecifiedMatching MONDO:0012185 spondylometaphyseal dysplasia, A4 type skos:exactMatch Orphanet:168555 Spondylometaphyseal dysplasia, A4 type semapv:UnspecifiedMatching MONDO:0012185 spondylometaphyseal dysplasia, A4 type skos:exactMatch UMLS:C1836862 semapv:UnspecifiedMatching MONDO:0012185 spondylometaphyseal dysplasia, A4 type skos:exactMatch icd11.foundation:696316924 Spondylometaphyseal dysplasia, A4 type semapv:UnspecifiedMatching MONDO:0012185 spondylometaphyseal dysplasia, A4 type skos:exactMatch mesh:C563803 semapv:UnspecifiedMatching MONDO:0012186 Fanconi anemia complementation group I skos:exactMatch DOID:0111091 Fanconi anemia complementation group I semapv:UnspecifiedMatching MONDO:0012186 Fanconi anemia complementation group I skos:exactMatch MEDGEN:323016 semapv:UnspecifiedMatching MONDO:0012186 Fanconi anemia complementation group I skos:exactMatch NCIT:C129026 Fanconi Anemia, Complementation Group I semapv:UnspecifiedMatching MONDO:0012186 Fanconi anemia complementation group I skos:exactMatch OMIM:609053 fanconi anemia, complementation group 1 semapv:UnspecifiedMatching MONDO:0012186 Fanconi anemia complementation group I skos:exactMatch UMLS:C1836861 semapv:UnspecifiedMatching MONDO:0012186 Fanconi anemia complementation group I skos:exactMatch mesh:C563802 semapv:UnspecifiedMatching MONDO:0012187 Fanconi anemia complementation group J skos:exactMatch DOID:0111097 Fanconi anemia complementation group J semapv:UnspecifiedMatching MONDO:0012187 Fanconi anemia complementation group J skos:exactMatch MEDGEN:323015 semapv:UnspecifiedMatching MONDO:0012187 Fanconi anemia complementation group J skos:exactMatch NCIT:C129027 Fanconi Anemia, Complementation Group J semapv:UnspecifiedMatching MONDO:0012187 Fanconi anemia complementation group J skos:exactMatch OMIM:609054 fanconi anemia, complementation group j semapv:UnspecifiedMatching MONDO:0012187 Fanconi anemia complementation group J skos:exactMatch UMLS:C1836860 semapv:UnspecifiedMatching MONDO:0012187 Fanconi anemia complementation group J skos:exactMatch mesh:C563801 semapv:UnspecifiedMatching MONDO:0012188 neuronal ceroid lipofuscinosis 9 skos:exactMatch DOID:0110733 neuronal ceroid lipofuscinosis 9 semapv:UnspecifiedMatching MONDO:0012188 neuronal ceroid lipofuscinosis 9 skos:exactMatch MEDGEN:332304 semapv:UnspecifiedMatching MONDO:0012188 neuronal ceroid lipofuscinosis 9 skos:exactMatch OMIM:609055 ceroid lipofuscinosis, neuronal, 9 semapv:UnspecifiedMatching MONDO:0012188 neuronal ceroid lipofuscinosis 9 skos:exactMatch UMLS:C1836841 semapv:UnspecifiedMatching MONDO:0012188 neuronal ceroid lipofuscinosis 9 skos:exactMatch mesh:C537953 semapv:UnspecifiedMatching MONDO:0012190 epidermolysis bullosa simplex 7, with nephropathy and deafness skos:exactMatch MEDGEN:323004 semapv:UnspecifiedMatching MONDO:0012190 epidermolysis bullosa simplex 7, with nephropathy and deafness skos:exactMatch OMIM:609057 epidermolysis bullosa simplex 7, with nephropathy and deafness semapv:UnspecifiedMatching MONDO:0012190 epidermolysis bullosa simplex 7, with nephropathy and deafness skos:exactMatch Orphanet:300333 Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome semapv:UnspecifiedMatching MONDO:0012190 epidermolysis bullosa simplex 7, with nephropathy and deafness skos:exactMatch UMLS:C1836823 semapv:UnspecifiedMatching MONDO:0012190 epidermolysis bullosa simplex 7, with nephropathy and deafness skos:exactMatch mesh:C563798 semapv:UnspecifiedMatching MONDO:0012191 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 skos:exactMatch DOID:0111474 combined oxidative phosphorylation deficiency 1 semapv:UnspecifiedMatching MONDO:0012191 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 skos:exactMatch MEDGEN:322999 semapv:UnspecifiedMatching MONDO:0012191 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 skos:exactMatch NCIT:C125663 Combined Oxidative Phosphorylation Deficiency 1 semapv:UnspecifiedMatching MONDO:0012191 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 skos:exactMatch OMIM:609060 combined oxidative phosphorylation deficiency 1 semapv:UnspecifiedMatching MONDO:0012191 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 skos:exactMatch Orphanet:137681 Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 semapv:UnspecifiedMatching MONDO:0012191 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 skos:exactMatch SCTID:764962002 semapv:UnspecifiedMatching MONDO:0012191 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 skos:exactMatch UMLS:C1836797 semapv:UnspecifiedMatching MONDO:0012191 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 skos:exactMatch mesh:C563797 semapv:UnspecifiedMatching MONDO:0012192 permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome skos:exactMatch MEDGEN:332288 semapv:UnspecifiedMatching MONDO:0012192 permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome skos:exactMatch OMIM:609069 pancreatic and cerebellar agenesis semapv:UnspecifiedMatching MONDO:0012192 permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome skos:exactMatch Orphanet:65288 Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome semapv:UnspecifiedMatching MONDO:0012192 permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome skos:exactMatch UMLS:C1836780 semapv:UnspecifiedMatching MONDO:0012192 permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome skos:exactMatch mesh:C563796 semapv:UnspecifiedMatching MONDO:0012193 autosomal dominant limb-girdle muscular dystrophy type 1G skos:exactMatch DOID:0110306 autosomal dominant limb-girdle muscular dystrophy type 3 semapv:UnspecifiedMatching MONDO:0012193 autosomal dominant limb-girdle muscular dystrophy type 1G skos:exactMatch MEDGEN:322993 semapv:UnspecifiedMatching MONDO:0012193 autosomal dominant limb-girdle muscular dystrophy type 1G skos:exactMatch OMIM:609115 muscular dystrophy, limb-girdle, autosomal dominant 3 semapv:UnspecifiedMatching MONDO:0012193 autosomal dominant limb-girdle muscular dystrophy type 1G skos:exactMatch Orphanet:55596 HNRNPDL-related limb-girdle muscular dystrophy D3 semapv:UnspecifiedMatching MONDO:0012193 autosomal dominant limb-girdle muscular dystrophy type 1G skos:exactMatch SCTID:719990003 semapv:UnspecifiedMatching MONDO:0012193 autosomal dominant limb-girdle muscular dystrophy type 1G skos:exactMatch UMLS:C1836765 semapv:UnspecifiedMatching MONDO:0012193 autosomal dominant limb-girdle muscular dystrophy type 1G skos:exactMatch mesh:C563794 semapv:UnspecifiedMatching MONDO:0012194 aneurysm, intracranial berry, 3 skos:exactMatch DOID:0080966 intracranial berry aneurysm 3 semapv:UnspecifiedMatching MONDO:0012194 aneurysm, intracranial berry, 3 skos:exactMatch MEDGEN:332280 semapv:UnspecifiedMatching MONDO:0012194 aneurysm, intracranial berry, 3 skos:exactMatch OMIM:609122 aneurysm, intracranial berry, 3 semapv:UnspecifiedMatching MONDO:0012194 aneurysm, intracranial berry, 3 skos:exactMatch UMLS:C1836757 semapv:UnspecifiedMatching MONDO:0012194 aneurysm, intracranial berry, 3 skos:exactMatch mesh:C563792 semapv:UnspecifiedMatching MONDO:0012195 arthrogryposis-severe scoliosis syndrome skos:exactMatch DOID:0111610 distal arthrogryposis type 4 semapv:UnspecifiedMatching MONDO:0012195 arthrogryposis-severe scoliosis syndrome skos:exactMatch MEDGEN:373169 semapv:UnspecifiedMatching MONDO:0012195 arthrogryposis-severe scoliosis syndrome skos:exactMatch OMIM:609128 arthrogryposis, distal, type 4 semapv:UnspecifiedMatching MONDO:0012195 arthrogryposis-severe scoliosis syndrome skos:exactMatch Orphanet:65720 Arthrogryposis-severe scoliosis syndrome semapv:UnspecifiedMatching MONDO:0012195 arthrogryposis-severe scoliosis syndrome skos:exactMatch SCTID:715575001 semapv:UnspecifiedMatching MONDO:0012195 arthrogryposis-severe scoliosis syndrome skos:exactMatch UMLS:C1836756 semapv:UnspecifiedMatching MONDO:0012195 arthrogryposis-severe scoliosis syndrome skos:exactMatch mesh:C563791 semapv:UnspecifiedMatching MONDO:0012196 autosomal dominant auditory neuropathy 1 skos:exactMatch DOID:0060690 autosomal dominant auditory neuropathy 1 semapv:UnspecifiedMatching MONDO:0012196 autosomal dominant auditory neuropathy 1 skos:exactMatch MEDGEN:322984 semapv:UnspecifiedMatching MONDO:0012196 autosomal dominant auditory neuropathy 1 skos:exactMatch OMIM:609129 auditory neuropathy, autosomal dominant 1 semapv:UnspecifiedMatching MONDO:0012196 autosomal dominant auditory neuropathy 1 skos:exactMatch UMLS:C1836743 semapv:UnspecifiedMatching MONDO:0012196 autosomal dominant auditory neuropathy 1 skos:exactMatch mesh:C563790 semapv:UnspecifiedMatching MONDO:0012197 idiopathic aplastic anemia skos:exactMatch ICD10CM:D61.3 Idiopathic aplastic anemia semapv:UnspecifiedMatching MONDO:0012197 idiopathic aplastic anemia skos:exactMatch MEDGEN:87595 semapv:UnspecifiedMatching MONDO:0012197 idiopathic aplastic anemia skos:exactMatch NCIT:C61230 Idiopathic Aplastic Anemia semapv:UnspecifiedMatching MONDO:0012197 idiopathic aplastic anemia skos:exactMatch Orphanet:88 Idiopathic aplastic anemia semapv:UnspecifiedMatching MONDO:0012197 idiopathic aplastic anemia skos:exactMatch SCTID:191256002 semapv:UnspecifiedMatching MONDO:0012197 idiopathic aplastic anemia skos:exactMatch UMLS:C0348890 semapv:UnspecifiedMatching MONDO:0012197 idiopathic aplastic anemia skos:exactMatch icd11.foundation:1615519452 Idiopathic aplastic anaemia semapv:UnspecifiedMatching MONDO:0012197 idiopathic aplastic anemia skos:exactMatch mesh:C538494 semapv:UnspecifiedMatching MONDO:0012198 PCWH syndrome skos:exactMatch DOID:0090111 PCWH syndrome semapv:UnspecifiedMatching MONDO:0012198 PCWH syndrome skos:exactMatch MEDGEN:373160 semapv:UnspecifiedMatching MONDO:0012198 PCWH syndrome skos:exactMatch OMIM:609136 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease semapv:UnspecifiedMatching MONDO:0012198 PCWH syndrome skos:exactMatch Orphanet:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease semapv:UnspecifiedMatching MONDO:0012198 PCWH syndrome skos:exactMatch UMLS:C1836727 semapv:UnspecifiedMatching MONDO:0012198 PCWH syndrome skos:exactMatch mesh:C563789 semapv:UnspecifiedMatching MONDO:0012199 posterior polymorphous corneal dystrophy 2 skos:exactMatch DOID:0110856 posterior polymorphous corneal dystrophy 2 semapv:UnspecifiedMatching MONDO:0012199 posterior polymorphous corneal dystrophy 2 skos:exactMatch MEDGEN:377757 semapv:UnspecifiedMatching MONDO:0012199 posterior polymorphous corneal dystrophy 2 skos:exactMatch OMIM:609140 corneal dystrophy, posterior polymorphous, 2 semapv:UnspecifiedMatching MONDO:0012199 posterior polymorphous corneal dystrophy 2 skos:exactMatch UMLS:C1852795 semapv:UnspecifiedMatching MONDO:0012199 posterior polymorphous corneal dystrophy 2 skos:exactMatch mesh:C565176 semapv:UnspecifiedMatching MONDO:0012200 posterior polymorphous corneal dystrophy 3 skos:exactMatch DOID:0110857 posterior polymorphous corneal dystrophy 3 semapv:UnspecifiedMatching MONDO:0012200 posterior polymorphous corneal dystrophy 3 skos:exactMatch MEDGEN:322978 semapv:UnspecifiedMatching MONDO:0012200 posterior polymorphous corneal dystrophy 3 skos:exactMatch OMIM:609141 corneal dystrophy, posterior polymorphous, 3 semapv:UnspecifiedMatching MONDO:0012200 posterior polymorphous corneal dystrophy 3 skos:exactMatch UMLS:C1836724 semapv:UnspecifiedMatching MONDO:0012200 posterior polymorphous corneal dystrophy 3 skos:exactMatch mesh:C563788 semapv:UnspecifiedMatching MONDO:0012202 malaria, mild, susceptibility to skos:exactMatch MEDGEN:332274 semapv:UnspecifiedMatching MONDO:0012202 malaria, mild, susceptibility to skos:exactMatch OMIM:609148 malaria, mild, susceptibility to semapv:UnspecifiedMatching MONDO:0012202 malaria, mild, susceptibility to skos:exactMatch UMLS:C1836721 semapv:UnspecifiedMatching MONDO:0012203 familial hyperthyroidism due to mutations in TSH receptor skos:exactMatch DOID:0081101 nonautoimmune hyperthyroidism semapv:UnspecifiedMatching MONDO:0012203 familial hyperthyroidism due to mutations in TSH receptor skos:exactMatch MEDGEN:373154 semapv:UnspecifiedMatching MONDO:0012203 familial hyperthyroidism due to mutations in TSH receptor skos:exactMatch OMIM:609152 hyperthyroidism, nonautoimmune semapv:UnspecifiedMatching MONDO:0012203 familial hyperthyroidism due to mutations in TSH receptor skos:exactMatch Orphanet:424 Familial hyperthyroidism due to mutations in TSH receptor semapv:UnspecifiedMatching MONDO:0012203 familial hyperthyroidism due to mutations in TSH receptor skos:exactMatch UMLS:C1836706 semapv:UnspecifiedMatching MONDO:0012203 familial hyperthyroidism due to mutations in TSH receptor skos:exactMatch mesh:C563786 semapv:UnspecifiedMatching MONDO:0012204 familial pseudohyperkalemia skos:exactMatch MEDGEN:324588 semapv:UnspecifiedMatching MONDO:0012204 familial pseudohyperkalemia skos:exactMatch OMIM:609153 pseudohyperkalemia, familial, 2, due to red cell leak semapv:UnspecifiedMatching MONDO:0012204 familial pseudohyperkalemia skos:exactMatch Orphanet:90044 Familial pseudohyperkalemia semapv:UnspecifiedMatching MONDO:0012204 familial pseudohyperkalemia skos:exactMatch SCTID:717254007 semapv:UnspecifiedMatching MONDO:0012204 familial pseudohyperkalemia skos:exactMatch UMLS:C1836705 semapv:UnspecifiedMatching MONDO:0012204 familial pseudohyperkalemia skos:exactMatch icd11.foundation:1653996588 Familial pseudohyperkalaemia semapv:UnspecifiedMatching MONDO:0012204 familial pseudohyperkalemia skos:exactMatch mesh:C563785 semapv:UnspecifiedMatching MONDO:0012205 autosomal dominant striatal neurodegeneration type 1 skos:exactMatch MEDGEN:934775 semapv:UnspecifiedMatching MONDO:0012205 autosomal dominant striatal neurodegeneration type 1 skos:exactMatch OMIM:609161 striatal degeneration, autosomal dominant 1 semapv:UnspecifiedMatching MONDO:0012205 autosomal dominant striatal neurodegeneration type 1 skos:exactMatch SCTID:725392005 semapv:UnspecifiedMatching MONDO:0012205 autosomal dominant striatal neurodegeneration type 1 skos:exactMatch UMLS:C4310808 semapv:UnspecifiedMatching MONDO:0012206 spondyloepiphyseal dysplasia with metatarsal shortening skos:exactMatch MEDGEN:324580 semapv:UnspecifiedMatching MONDO:0012206 spondyloepiphyseal dysplasia with metatarsal shortening skos:exactMatch OMIM:609162 czech dysplasia semapv:UnspecifiedMatching MONDO:0012206 spondyloepiphyseal dysplasia with metatarsal shortening skos:exactMatch Orphanet:137678 Spondyloepiphyseal dysplasia with metatarsal shortening semapv:UnspecifiedMatching MONDO:0012206 spondyloepiphyseal dysplasia with metatarsal shortening skos:exactMatch SCTID:720826006 semapv:UnspecifiedMatching MONDO:0012206 spondyloepiphyseal dysplasia with metatarsal shortening skos:exactMatch UMLS:C1836683 semapv:UnspecifiedMatching MONDO:0012206 spondyloepiphyseal dysplasia with metatarsal shortening skos:exactMatch mesh:C535766 semapv:UnspecifiedMatching MONDO:0012207 umbilicus, familial flat skos:exactMatch MEDGEN:332265 semapv:UnspecifiedMatching MONDO:0012207 umbilicus, familial flat skos:exactMatch OMIM:609164 umbilicus, familial flat semapv:UnspecifiedMatching MONDO:0012207 umbilicus, familial flat skos:exactMatch UMLS:C1836682 semapv:UnspecifiedMatching MONDO:0012207 umbilicus, familial flat skos:exactMatch mesh:C537059 semapv:UnspecifiedMatching MONDO:0012208 congenital reticular ichthyosiform erythroderma skos:exactMatch MEDGEN:777141 semapv:UnspecifiedMatching MONDO:0012208 congenital reticular ichthyosiform erythroderma skos:exactMatch OMIM:609165 ichthyosis with confetti semapv:UnspecifiedMatching MONDO:0012208 congenital reticular ichthyosiform erythroderma skos:exactMatch Orphanet:281190 Congenital reticular ichthyosiform erythroderma semapv:UnspecifiedMatching MONDO:0012208 congenital reticular ichthyosiform erythroderma skos:exactMatch SCTID:703504006 semapv:UnspecifiedMatching MONDO:0012208 congenital reticular ichthyosiform erythroderma skos:exactMatch UMLS:C3665704 semapv:UnspecifiedMatching MONDO:0012208 congenital reticular ichthyosiform erythroderma skos:exactMatch icd11.foundation:565254051 Congenital reticular ichthyosiform erythroderma semapv:UnspecifiedMatching MONDO:0012208 congenital reticular ichthyosiform erythroderma skos:exactMatch mesh:C563781 semapv:UnspecifiedMatching MONDO:0012209 branchiogenic deafness syndrome skos:exactMatch MEDGEN:322970 semapv:UnspecifiedMatching MONDO:0012209 branchiogenic deafness syndrome skos:exactMatch OMIM:609166 branchiogenic-deafness syndrome semapv:UnspecifiedMatching MONDO:0012209 branchiogenic deafness syndrome skos:exactMatch Orphanet:50815 Branchiogenic deafness syndrome semapv:UnspecifiedMatching MONDO:0012209 branchiogenic deafness syndrome skos:exactMatch SCTID:717944002 semapv:UnspecifiedMatching MONDO:0012209 branchiogenic deafness syndrome skos:exactMatch UMLS:C1836673 semapv:UnspecifiedMatching MONDO:0012209 branchiogenic deafness syndrome skos:exactMatch mesh:C563780 semapv:UnspecifiedMatching MONDO:0012210 migraine with aura, susceptibility to, 7 skos:exactMatch MEDGEN:373145 semapv:UnspecifiedMatching MONDO:0012210 migraine with aura, susceptibility to, 7 skos:exactMatch OMIM:609179 migraine with aura, susceptibility to, 7 semapv:UnspecifiedMatching MONDO:0012210 migraine with aura, susceptibility to, 7 skos:exactMatch UMLS:C1836670 semapv:UnspecifiedMatching MONDO:0012211 MPDU1-congenital disorder of glycosylation skos:exactMatch DOID:0080558 congenital disorder of glycosylation If semapv:UnspecifiedMatching MONDO:0012211 MPDU1-congenital disorder of glycosylation skos:exactMatch MEDGEN:322968 semapv:UnspecifiedMatching MONDO:0012211 MPDU1-congenital disorder of glycosylation skos:exactMatch NCIT:C126872 Congenital Disorder of Glycosylation Type If semapv:UnspecifiedMatching MONDO:0012211 MPDU1-congenital disorder of glycosylation skos:exactMatch OMIM:609180 congenital disorder of glycosylation, type if semapv:UnspecifiedMatching MONDO:0012211 MPDU1-congenital disorder of glycosylation skos:exactMatch Orphanet:79323 MPDU1-CDG semapv:UnspecifiedMatching MONDO:0012211 MPDU1-congenital disorder of glycosylation skos:exactMatch SCTID:724096007 semapv:UnspecifiedMatching MONDO:0012211 MPDU1-congenital disorder of glycosylation skos:exactMatch UMLS:C1836669 semapv:UnspecifiedMatching MONDO:0012211 MPDU1-congenital disorder of glycosylation skos:exactMatch mesh:C535744 semapv:UnspecifiedMatching MONDO:0012212 Loeys-Dietz syndrome 1 skos:exactMatch DOID:0070235 Loeys-Dietz syndrome 1 semapv:UnspecifiedMatching MONDO:0012212 Loeys-Dietz syndrome 1 skos:exactMatch MEDGEN:1646567 semapv:UnspecifiedMatching MONDO:0012212 Loeys-Dietz syndrome 1 skos:exactMatch NCIT:C75119 Loeys-Dietz Syndrome Type 1 semapv:UnspecifiedMatching MONDO:0012212 Loeys-Dietz syndrome 1 skos:exactMatch OMIM:609192 loeys-dietz syndrome 1 semapv:UnspecifiedMatching MONDO:0012212 Loeys-Dietz syndrome 1 skos:exactMatch UMLS:C4551955 semapv:UnspecifiedMatching MONDO:0012213 hereditary spastic paraplegia 26 skos:exactMatch DOID:0110777 hereditary spastic paraplegia 26 semapv:UnspecifiedMatching MONDO:0012213 hereditary spastic paraplegia 26 skos:exactMatch MEDGEN:373138 semapv:UnspecifiedMatching MONDO:0012213 hereditary spastic paraplegia 26 skos:exactMatch OMIM:609195 spastic paraplegia 26, autosomal recessive semapv:UnspecifiedMatching MONDO:0012213 hereditary spastic paraplegia 26 skos:exactMatch Orphanet:101006 Autosomal recessive spastic paraplegia type 26 semapv:UnspecifiedMatching MONDO:0012213 hereditary spastic paraplegia 26 skos:exactMatch SCTID:726607007 semapv:UnspecifiedMatching MONDO:0012213 hereditary spastic paraplegia 26 skos:exactMatch UMLS:C1836632 semapv:UnspecifiedMatching MONDO:0012213 hereditary spastic paraplegia 26 skos:exactMatch mesh:C536862 semapv:UnspecifiedMatching MONDO:0012214 glucocorticoid deficiency 3 skos:exactMatch MEDGEN:332252 semapv:UnspecifiedMatching MONDO:0012214 glucocorticoid deficiency 3 skos:exactMatch OMIM:609197 glucocorticoid deficiency 3 semapv:UnspecifiedMatching MONDO:0012214 glucocorticoid deficiency 3 skos:exactMatch UMLS:C1836621 semapv:UnspecifiedMatching MONDO:0012214 glucocorticoid deficiency 3 skos:exactMatch mesh:C563776 semapv:UnspecifiedMatching MONDO:0012215 myofibrillar myopathy 3 skos:exactMatch DOID:0080094 myofibrillar myopathy 3 semapv:UnspecifiedMatching MONDO:0012215 myofibrillar myopathy 3 skos:exactMatch MEDGEN:811509 semapv:UnspecifiedMatching MONDO:0012215 myofibrillar myopathy 3 skos:exactMatch OMIM:609200 myopathy, myofibrillar, 3 semapv:UnspecifiedMatching MONDO:0012215 myofibrillar myopathy 3 skos:exactMatch Orphanet:268129 Spheroid body myopathy semapv:UnspecifiedMatching MONDO:0012215 myofibrillar myopathy 3 skos:exactMatch Orphanet:98911 Distal myotilinopathy semapv:UnspecifiedMatching MONDO:0012215 myofibrillar myopathy 3 skos:exactMatch SCTID:719985001 semapv:UnspecifiedMatching MONDO:0012215 myofibrillar myopathy 3 skos:exactMatch SCTID:765092004 semapv:UnspecifiedMatching MONDO:0012215 myofibrillar myopathy 3 skos:exactMatch SCTID:765196004 semapv:UnspecifiedMatching MONDO:0012215 myofibrillar myopathy 3 skos:exactMatch UMLS:C3714934 semapv:UnspecifiedMatching MONDO:0012215 myofibrillar myopathy 3 skos:exactMatch mesh:C000598645 semapv:UnspecifiedMatching MONDO:0012215 myofibrillar myopathy 3 skos:exactMatch mesh:C535906 semapv:UnspecifiedMatching MONDO:0012215 myofibrillar myopathy 3 skos:exactMatch mesh:C563775 semapv:UnspecifiedMatching MONDO:0012216 foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome skos:exactMatch DOID:0070531 foveal hypoplasia 2 semapv:UnspecifiedMatching MONDO:0012216 foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome skos:exactMatch MEDGEN:814203 semapv:UnspecifiedMatching MONDO:0012216 foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome skos:exactMatch OMIM:609218 foveal hypoplasia 2 semapv:UnspecifiedMatching MONDO:0012216 foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome skos:exactMatch Orphanet:397618 Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome semapv:UnspecifiedMatching MONDO:0012216 foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome skos:exactMatch UMLS:C3807873 semapv:UnspecifiedMatching MONDO:0012216 foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome skos:exactMatch mesh:C563774 semapv:UnspecifiedMatching MONDO:0012217 Bruck syndrome 2 skos:exactMatch MEDGEN:373129 semapv:UnspecifiedMatching MONDO:0012217 Bruck syndrome 2 skos:exactMatch OMIM:609220 bruck syndrome 2 semapv:UnspecifiedMatching MONDO:0012217 Bruck syndrome 2 skos:exactMatch UMLS:C1836602 semapv:UnspecifiedMatching MONDO:0012217 Bruck syndrome 2 skos:exactMatch mesh:C537407 semapv:UnspecifiedMatching MONDO:0012218 dandy-walker malformation with occipital cephalocele, autosomal dominant skos:exactMatch MEDGEN:393273 semapv:UnspecifiedMatching MONDO:0012218 dandy-walker malformation with occipital cephalocele, autosomal dominant skos:exactMatch OMIM:609222 dandy-walker malformation with occipital cephalocele, autosomal dominant semapv:UnspecifiedMatching MONDO:0012218 dandy-walker malformation with occipital cephalocele, autosomal dominant skos:exactMatch UMLS:C2674987 semapv:UnspecifiedMatching MONDO:0012218 dandy-walker malformation with occipital cephalocele, autosomal dominant skos:exactMatch mesh:C567185 semapv:UnspecifiedMatching MONDO:0012219 spondyloepiphyseal dysplasia tarda, autosomal recessive, Leroy-Spranger type skos:exactMatch DOID:0112291 autosomal recessive spondyloepiphyseal dysplasia tarda Leroy-Spranger type semapv:UnspecifiedMatching MONDO:0012219 spondyloepiphyseal dysplasia tarda, autosomal recessive, Leroy-Spranger type skos:exactMatch MEDGEN:373126 semapv:UnspecifiedMatching MONDO:0012219 spondyloepiphyseal dysplasia tarda, autosomal recessive, Leroy-Spranger type skos:exactMatch OMIM:609223 spondyloepiphyseal dysplasia tarda, autosomal recessive, leroy-spranger type semapv:UnspecifiedMatching MONDO:0012219 spondyloepiphyseal dysplasia tarda, autosomal recessive, Leroy-Spranger type skos:exactMatch UMLS:C1836584 semapv:UnspecifiedMatching MONDO:0012219 spondyloepiphyseal dysplasia tarda, autosomal recessive, Leroy-Spranger type skos:exactMatch mesh:C563772 semapv:UnspecifiedMatching MONDO:0012220 Griscelli syndrome type 3 skos:exactMatch DOID:0060834 Griscelli syndrome type 3 semapv:UnspecifiedMatching MONDO:0012220 Griscelli syndrome type 3 skos:exactMatch MEDGEN:373124 semapv:UnspecifiedMatching MONDO:0012220 Griscelli syndrome type 3 skos:exactMatch OMIM:609227 griscelli syndrome, type 3 semapv:UnspecifiedMatching MONDO:0012220 Griscelli syndrome type 3 skos:exactMatch Orphanet:79478 Griscelli syndrome type 3 semapv:UnspecifiedMatching MONDO:0012220 Griscelli syndrome type 3 skos:exactMatch UMLS:C1836573 semapv:UnspecifiedMatching MONDO:0012220 Griscelli syndrome type 3 skos:exactMatch icd11.foundation:1959052636 Griscelli syndrome type 3 semapv:UnspecifiedMatching MONDO:0012220 Griscelli syndrome type 3 skos:exactMatch mesh:C537303 semapv:UnspecifiedMatching MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 skos:exactMatch DOID:0112318 Schindler disease type 1 semapv:UnspecifiedMatching MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 skos:exactMatch MEDGEN:373113 semapv:UnspecifiedMatching MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 skos:exactMatch OMIM:609241 schindler disease, type 1 semapv:UnspecifiedMatching MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 skos:exactMatch Orphanet:79279 Alpha-N-acetylgalactosaminidase deficiency type 1 semapv:UnspecifiedMatching MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 skos:exactMatch SCTID:879937000 semapv:UnspecifiedMatching MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 skos:exactMatch UMLS:C1836544 semapv:UnspecifiedMatching MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 skos:exactMatch icd11.foundation:1058486825 Alpha-N-acetylgalactosaminidase deficiency type 1 semapv:UnspecifiedMatching MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 skos:exactMatch DOID:0112319 Kanzaki disease semapv:UnspecifiedMatching MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 skos:exactMatch MEDGEN:324539 semapv:UnspecifiedMatching MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 skos:exactMatch OMIM:609242 kanzaki disease semapv:UnspecifiedMatching MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 skos:exactMatch Orphanet:79280 Alpha-N-acetylgalactosaminidase deficiency type 2 semapv:UnspecifiedMatching MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 skos:exactMatch SCTID:880065001 semapv:UnspecifiedMatching MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 skos:exactMatch UMLS:C1836522 semapv:UnspecifiedMatching MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 skos:exactMatch icd11.foundation:266505438 Alpha-N-acetylgalactosaminidase deficiency type 2 semapv:UnspecifiedMatching MONDO:0012223 hypotrichosis, progressive patterned scalp, with wiry hair, onycholysis, and cleft lip/palate skos:exactMatch MEDGEN:324538 semapv:UnspecifiedMatching MONDO:0012223 hypotrichosis, progressive patterned scalp, with wiry hair, onycholysis, and cleft lip/palate skos:exactMatch OMIM:609250 hypotrichosis, progressive patterned scalp, with wiry hair, onycholysis, and cleft lip/palate semapv:UnspecifiedMatching MONDO:0012223 hypotrichosis, progressive patterned scalp, with wiry hair, onycholysis, and cleft lip/palate skos:exactMatch UMLS:C1836521 semapv:UnspecifiedMatching MONDO:0012223 hypotrichosis, progressive patterned scalp, with wiry hair, onycholysis, and cleft lip/palate skos:exactMatch mesh:C563765 semapv:UnspecifiedMatching MONDO:0012224 febrile seizures, familial, 6 skos:exactMatch DOID:0111309 familial febrile seizures 6 semapv:UnspecifiedMatching MONDO:0012224 febrile seizures, familial, 6 skos:exactMatch MEDGEN:373107 semapv:UnspecifiedMatching MONDO:0012224 febrile seizures, familial, 6 skos:exactMatch OMIM:609253 febrile seizures, familial, 6 semapv:UnspecifiedMatching MONDO:0012224 febrile seizures, familial, 6 skos:exactMatch UMLS:C1836518 semapv:UnspecifiedMatching MONDO:0012224 febrile seizures, familial, 6 skos:exactMatch mesh:C563764 semapv:UnspecifiedMatching MONDO:0012225 Senior-Loken syndrome 5 skos:exactMatch MEDGEN:332226 semapv:UnspecifiedMatching MONDO:0012225 Senior-Loken syndrome 5 skos:exactMatch OMIM:609254 senior-loken syndrome 5 semapv:UnspecifiedMatching MONDO:0012225 Senior-Loken syndrome 5 skos:exactMatch UMLS:C1836517 semapv:UnspecifiedMatching MONDO:0012225 Senior-Loken syndrome 5 skos:exactMatch mesh:C563763 semapv:UnspecifiedMatching MONDO:0012226 febrile seizures, familial, 5 skos:exactMatch DOID:0111306 familial febrile seizures 5 semapv:UnspecifiedMatching MONDO:0012226 febrile seizures, familial, 5 skos:exactMatch MEDGEN:322934 semapv:UnspecifiedMatching MONDO:0012226 febrile seizures, familial, 5 skos:exactMatch OMIM:609255 febrile seizures, familial, 5 semapv:UnspecifiedMatching MONDO:0012226 febrile seizures, familial, 5 skos:exactMatch UMLS:C1836507 semapv:UnspecifiedMatching MONDO:0012226 febrile seizures, familial, 5 skos:exactMatch mesh:C563762 semapv:UnspecifiedMatching MONDO:0012227 myopia 7 skos:exactMatch MEDGEN:373105 semapv:UnspecifiedMatching MONDO:0012227 myopia 7 skos:exactMatch OMIM:609256 myopia 7 semapv:UnspecifiedMatching MONDO:0012227 myopia 7 skos:exactMatch UMLS:C1836506 semapv:UnspecifiedMatching MONDO:0012227 myopia 7 skos:exactMatch mesh:C563761 semapv:UnspecifiedMatching MONDO:0012228 myopia 8 skos:exactMatch MEDGEN:332223 semapv:UnspecifiedMatching MONDO:0012228 myopia 8 skos:exactMatch OMIM:609257 myopia 8 semapv:UnspecifiedMatching MONDO:0012228 myopia 8 skos:exactMatch UMLS:C1836505 semapv:UnspecifiedMatching MONDO:0012228 myopia 8 skos:exactMatch mesh:C563760 semapv:UnspecifiedMatching MONDO:0012229 myopia 9 skos:exactMatch MEDGEN:332222 semapv:UnspecifiedMatching MONDO:0012229 myopia 9 skos:exactMatch OMIM:609258 myopia 9 semapv:UnspecifiedMatching MONDO:0012229 myopia 9 skos:exactMatch UMLS:C1836504 semapv:UnspecifiedMatching MONDO:0012229 myopia 9 skos:exactMatch mesh:C563759 semapv:UnspecifiedMatching MONDO:0012230 myopia 10 skos:exactMatch MEDGEN:373104 semapv:UnspecifiedMatching MONDO:0012230 myopia 10 skos:exactMatch OMIM:609259 myopia 10 semapv:UnspecifiedMatching MONDO:0012230 myopia 10 skos:exactMatch UMLS:C1836503 semapv:UnspecifiedMatching MONDO:0012230 myopia 10 skos:exactMatch mesh:C563758 semapv:UnspecifiedMatching MONDO:0012231 Charcot-Marie-Tooth disease type 2A2 skos:exactMatch DOID:0110155 Charcot-Marie-Tooth disease type 2A2A semapv:UnspecifiedMatching MONDO:0012231 Charcot-Marie-Tooth disease type 2A2 skos:exactMatch MEDGEN:1648317 semapv:UnspecifiedMatching MONDO:0012231 Charcot-Marie-Tooth disease type 2A2 skos:exactMatch NCIT:C150646 Charcot-Marie-Tooth Disease Type 2A2A semapv:UnspecifiedMatching MONDO:0012231 Charcot-Marie-Tooth disease type 2A2 skos:exactMatch OMIM:609260 charcot-marie-tooth disease, axonal, autosomal dominant, type 2a2a semapv:UnspecifiedMatching MONDO:0012231 Charcot-Marie-Tooth disease type 2A2 skos:exactMatch Orphanet:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 semapv:UnspecifiedMatching MONDO:0012231 Charcot-Marie-Tooth disease type 2A2 skos:exactMatch SCTID:764850002 semapv:UnspecifiedMatching MONDO:0012231 Charcot-Marie-Tooth disease type 2A2 skos:exactMatch UMLS:C4721887 semapv:UnspecifiedMatching MONDO:0012231 Charcot-Marie-Tooth disease type 2A2 skos:exactMatch icd11.foundation:1274363794 Charcot-Marie-Tooth disease type 2A2 semapv:UnspecifiedMatching MONDO:0012231 Charcot-Marie-Tooth disease type 2A2 skos:exactMatch mesh:C563757 semapv:UnspecifiedMatching MONDO:0012232 stuttering, familial persistent, 2 skos:exactMatch MEDGEN:332218 semapv:UnspecifiedMatching MONDO:0012232 stuttering, familial persistent, 2 skos:exactMatch OMIM:609261 stuttering, familial persistent, 2 semapv:UnspecifiedMatching MONDO:0012232 stuttering, familial persistent, 2 skos:exactMatch UMLS:C1836484 semapv:UnspecifiedMatching MONDO:0012232 stuttering, familial persistent, 2 skos:exactMatch mesh:C563756 semapv:UnspecifiedMatching MONDO:0012233 obsolete Li-Fraumeni syndrome 2 skos:exactMatch DOID:0111504 Li-Fraumeni syndrome 2 semapv:UnspecifiedMatching MONDO:0012233 obsolete Li-Fraumeni syndrome 2 skos:exactMatch OMIM:609265 tumor predisposition syndrome 4 semapv:UnspecifiedMatching MONDO:0012233 obsolete Li-Fraumeni syndrome 2 skos:exactMatch mesh:C563755 semapv:UnspecifiedMatching MONDO:0012235 autosomal recessive spinocerebellar ataxia 7 skos:exactMatch DOID:0080059 autosomal recessive spinocerebellar ataxia 7 semapv:UnspecifiedMatching MONDO:0012235 autosomal recessive spinocerebellar ataxia 7 skos:exactMatch MEDGEN:324520 semapv:UnspecifiedMatching MONDO:0012235 autosomal recessive spinocerebellar ataxia 7 skos:exactMatch OMIM:609270 spinocerebellar ataxia, autosomal recessive 7 semapv:UnspecifiedMatching MONDO:0012235 autosomal recessive spinocerebellar ataxia 7 skos:exactMatch Orphanet:284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia semapv:UnspecifiedMatching MONDO:0012235 autosomal recessive spinocerebellar ataxia 7 skos:exactMatch UMLS:C1836474 semapv:UnspecifiedMatching MONDO:0012235 autosomal recessive spinocerebellar ataxia 7 skos:exactMatch mesh:C563753 semapv:UnspecifiedMatching MONDO:0012236 keratoconus 4 skos:exactMatch MEDGEN:332217 semapv:UnspecifiedMatching MONDO:0012236 keratoconus 4 skos:exactMatch OMIM:609271 keratoconus 4 semapv:UnspecifiedMatching MONDO:0012236 keratoconus 4 skos:exactMatch UMLS:C1836473 semapv:UnspecifiedMatching MONDO:0012236 keratoconus 4 skos:exactMatch mesh:C563752 semapv:UnspecifiedMatching MONDO:0012237 nemaline myopathy 6 skos:exactMatch DOID:0110935 nemaline myopathy 6 semapv:UnspecifiedMatching MONDO:0012237 nemaline myopathy 6 skos:exactMatch MEDGEN:373095 semapv:UnspecifiedMatching MONDO:0012237 nemaline myopathy 6 skos:exactMatch OMIM:609273 nemaline myopathy 6 semapv:UnspecifiedMatching MONDO:0012237 nemaline myopathy 6 skos:exactMatch UMLS:C1836472 semapv:UnspecifiedMatching MONDO:0012237 nemaline myopathy 6 skos:exactMatch mesh:C538398 semapv:UnspecifiedMatching MONDO:0012238 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 skos:exactMatch DOID:0111517 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 semapv:UnspecifiedMatching MONDO:0012238 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 skos:exactMatch MEDGEN:322925 semapv:UnspecifiedMatching MONDO:0012238 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 skos:exactMatch OMIM:609283 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 semapv:UnspecifiedMatching MONDO:0012238 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 skos:exactMatch UMLS:C1836460 semapv:UnspecifiedMatching MONDO:0012238 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 skos:exactMatch mesh:C563750 semapv:UnspecifiedMatching MONDO:0012239 congenital myopathy 4B, autosomal recessive skos:exactMatch DOID:0110926 congenital myopathy 4B semapv:UnspecifiedMatching MONDO:0012239 congenital myopathy 4B, autosomal recessive skos:exactMatch MEDGEN:1840525 semapv:UnspecifiedMatching MONDO:0012239 congenital myopathy 4B, autosomal recessive skos:exactMatch OMIM:609284 congenital myopathy 4b, autosomal recessive semapv:UnspecifiedMatching MONDO:0012239 congenital myopathy 4B, autosomal recessive skos:exactMatch UMLS:C5829889 semapv:UnspecifiedMatching MONDO:0012239 congenital myopathy 4B, autosomal recessive skos:exactMatch mesh:C538348 semapv:UnspecifiedMatching MONDO:0012240 congenital myopathy 23 skos:exactMatch DOID:0110932 nemaline myopathy 4 semapv:UnspecifiedMatching MONDO:0012240 congenital myopathy 23 skos:exactMatch MEDGEN:324513 semapv:UnspecifiedMatching MONDO:0012240 congenital myopathy 23 skos:exactMatch NCIT:C164225 Nemaline Myopathy 4 semapv:UnspecifiedMatching MONDO:0012240 congenital myopathy 23 skos:exactMatch OMIM:609285 congenital myopathy 23 semapv:UnspecifiedMatching MONDO:0012240 congenital myopathy 23 skos:exactMatch UMLS:C1836447 semapv:UnspecifiedMatching MONDO:0012240 congenital myopathy 23 skos:exactMatch mesh:C538351 semapv:UnspecifiedMatching MONDO:0012241 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 skos:exactMatch DOID:0111520 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 semapv:UnspecifiedMatching MONDO:0012241 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 skos:exactMatch MEDGEN:373087 semapv:UnspecifiedMatching MONDO:0012241 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 skos:exactMatch OMIM:609286 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 semapv:UnspecifiedMatching MONDO:0012241 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 skos:exactMatch UMLS:C1836439 semapv:UnspecifiedMatching MONDO:0012241 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 skos:exactMatch mesh:C563747 semapv:UnspecifiedMatching MONDO:0012242 syncope, familial vasovagal skos:exactMatch MEDGEN:373086 semapv:UnspecifiedMatching MONDO:0012242 syncope, familial vasovagal skos:exactMatch OMIM:609289 syncope, familial vasovagal semapv:UnspecifiedMatching MONDO:0012242 syncope, familial vasovagal skos:exactMatch UMLS:C1836438 semapv:UnspecifiedMatching MONDO:0012242 syncope, familial vasovagal skos:exactMatch mesh:C536849 semapv:UnspecifiedMatching MONDO:0012243 B-cell immunodeficiency, distal limb anomalies, and urogenital malformations skos:exactMatch MEDGEN:332208 semapv:UnspecifiedMatching MONDO:0012243 B-cell immunodeficiency, distal limb anomalies, and urogenital malformations skos:exactMatch OMIM:609296 b-cell immunodeficiency, distal limb anomalies, and urogenital malformations semapv:UnspecifiedMatching MONDO:0012243 B-cell immunodeficiency, distal limb anomalies, and urogenital malformations skos:exactMatch Orphanet:567502 B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome semapv:UnspecifiedMatching MONDO:0012243 B-cell immunodeficiency, distal limb anomalies, and urogenital malformations skos:exactMatch UMLS:C1836437 semapv:UnspecifiedMatching MONDO:0012243 B-cell immunodeficiency, distal limb anomalies, and urogenital malformations skos:exactMatch mesh:C563745 semapv:UnspecifiedMatching MONDO:0012244 prostate cancer, hereditary, 5 skos:exactMatch MEDGEN:373085 semapv:UnspecifiedMatching MONDO:0012244 prostate cancer, hereditary, 5 skos:exactMatch OMIM:609299 prostate cancer, hereditary, 5 semapv:UnspecifiedMatching MONDO:0012244 prostate cancer, hereditary, 5 skos:exactMatch UMLS:C1836436 semapv:UnspecifiedMatching MONDO:0012244 prostate cancer, hereditary, 5 skos:exactMatch mesh:C563744 semapv:UnspecifiedMatching MONDO:0012245 developmental and epileptic encephalopathy, 3 skos:exactMatch DOID:0080440 developmental and epileptic encephalopathy 3 semapv:UnspecifiedMatching MONDO:0012245 developmental and epileptic encephalopathy, 3 skos:exactMatch MEDGEN:1801135 semapv:UnspecifiedMatching MONDO:0012245 developmental and epileptic encephalopathy, 3 skos:exactMatch OMIM:609304 developmental and epileptic encephalopathy 3 semapv:UnspecifiedMatching MONDO:0012245 developmental and epileptic encephalopathy, 3 skos:exactMatch UMLS:C5574665 semapv:UnspecifiedMatching MONDO:0012246 spinocerebellar ataxia type 26 skos:exactMatch DOID:0050975 spinocerebellar ataxia 26 semapv:UnspecifiedMatching MONDO:0012246 spinocerebellar ataxia type 26 skos:exactMatch MEDGEN:373077 semapv:UnspecifiedMatching MONDO:0012246 spinocerebellar ataxia type 26 skos:exactMatch OMIM:609306 spinocerebellar ataxia 26 semapv:UnspecifiedMatching MONDO:0012246 spinocerebellar ataxia type 26 skos:exactMatch Orphanet:101112 Spinocerebellar ataxia type 26 semapv:UnspecifiedMatching MONDO:0012246 spinocerebellar ataxia type 26 skos:exactMatch SCTID:718769009 semapv:UnspecifiedMatching MONDO:0012246 spinocerebellar ataxia type 26 skos:exactMatch UMLS:C1836395 semapv:UnspecifiedMatching MONDO:0012246 spinocerebellar ataxia type 26 skos:exactMatch icd11.foundation:586976339 Spinocerebellar ataxia type 26 semapv:UnspecifiedMatching MONDO:0012246 spinocerebellar ataxia type 26 skos:exactMatch mesh:C537203 semapv:UnspecifiedMatching MONDO:0012247 spinocerebellar ataxia type 27 skos:exactMatch DOID:0050976 spinocerebellar ataxia 27A semapv:UnspecifiedMatching MONDO:0012247 spinocerebellar ataxia type 27 skos:exactMatch MEDGEN:373075 semapv:UnspecifiedMatching MONDO:0012247 spinocerebellar ataxia type 27 skos:exactMatch Orphanet:98764 Spinocerebellar ataxia type 27A semapv:UnspecifiedMatching MONDO:0012247 spinocerebellar ataxia type 27 skos:exactMatch SCTID:719252002 semapv:UnspecifiedMatching MONDO:0012247 spinocerebellar ataxia type 27 skos:exactMatch UMLS:C1836383 semapv:UnspecifiedMatching MONDO:0012247 spinocerebellar ataxia type 27 skos:exactMatch icd11.foundation:1408059647 Spinocerebellar ataxia type 27 semapv:UnspecifiedMatching MONDO:0012247 spinocerebellar ataxia type 27 skos:exactMatch mesh:C537204 semapv:UnspecifiedMatching MONDO:0012248 autosomal recessive limb-girdle muscular dystrophy type 2K skos:exactMatch DOID:0110297 autosomal recessive limb-girdle muscular dystrophy type 2K semapv:UnspecifiedMatching MONDO:0012248 autosomal recessive limb-girdle muscular dystrophy type 2K skos:exactMatch MEDGEN:332193 semapv:UnspecifiedMatching MONDO:0012248 autosomal recessive limb-girdle muscular dystrophy type 2K skos:exactMatch NCIT:C133730 Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle) Type C, 1 semapv:UnspecifiedMatching MONDO:0012248 autosomal recessive limb-girdle muscular dystrophy type 2K skos:exactMatch OMIM:609308 muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 1 semapv:UnspecifiedMatching MONDO:0012248 autosomal recessive limb-girdle muscular dystrophy type 2K skos:exactMatch Orphanet:86812 POMT1-related limb-girdle muscular dystrophy R11 semapv:UnspecifiedMatching MONDO:0012248 autosomal recessive limb-girdle muscular dystrophy type 2K skos:exactMatch SCTID:720523006 semapv:UnspecifiedMatching MONDO:0012248 autosomal recessive limb-girdle muscular dystrophy type 2K skos:exactMatch UMLS:C1836373 semapv:UnspecifiedMatching MONDO:0012249 Lynch syndrome 2 skos:exactMatch DOID:0070274 hereditary nonpolyposis colorectal cancer type 2 semapv:UnspecifiedMatching MONDO:0012249 Lynch syndrome 2 skos:exactMatch MEDGEN:232603 semapv:UnspecifiedMatching MONDO:0012249 Lynch syndrome 2 skos:exactMatch NCIT:C6726 Lynch 2 Syndrome semapv:UnspecifiedMatching MONDO:0012249 Lynch syndrome 2 skos:exactMatch OMIM:609310 lynch syndrome 2 semapv:UnspecifiedMatching MONDO:0012249 Lynch syndrome 2 skos:exactMatch UMLS:C1333991 semapv:UnspecifiedMatching MONDO:0012249 Lynch syndrome 2 skos:exactMatch mesh:D055847 semapv:UnspecifiedMatching MONDO:0012250 Charcot-Marie-Tooth disease type 4H skos:exactMatch DOID:0110192 Charcot-Marie-Tooth disease type 4H semapv:UnspecifiedMatching MONDO:0012250 Charcot-Marie-Tooth disease type 4H skos:exactMatch MEDGEN:324487 semapv:UnspecifiedMatching MONDO:0012250 Charcot-Marie-Tooth disease type 4H skos:exactMatch OMIM:609311 charcot-marie-tooth disease, demyelinating, type 4h semapv:UnspecifiedMatching MONDO:0012250 Charcot-Marie-Tooth disease type 4H skos:exactMatch Orphanet:99954 Charcot-Marie-Tooth disease type 4H semapv:UnspecifiedMatching MONDO:0012250 Charcot-Marie-Tooth disease type 4H skos:exactMatch SCTID:715802008 semapv:UnspecifiedMatching MONDO:0012250 Charcot-Marie-Tooth disease type 4H skos:exactMatch UMLS:C1836336 semapv:UnspecifiedMatching MONDO:0012250 Charcot-Marie-Tooth disease type 4H skos:exactMatch icd11.foundation:214411126 Charcot-Marie-Tooth disease type 4H semapv:UnspecifiedMatching MONDO:0012250 Charcot-Marie-Tooth disease type 4H skos:exactMatch mesh:C563740 semapv:UnspecifiedMatching MONDO:0012251 MEDNIK syndrome skos:exactMatch DOID:0060483 MEDNIK syndrome semapv:UnspecifiedMatching MONDO:0012251 MEDNIK syndrome skos:exactMatch MEDGEN:322893 semapv:UnspecifiedMatching MONDO:0012251 MEDNIK syndrome skos:exactMatch OMIM:609313 MEDNIK syndrome semapv:UnspecifiedMatching MONDO:0012251 MEDNIK syndrome skos:exactMatch Orphanet:171851 MEDNIK syndrome semapv:UnspecifiedMatching MONDO:0012251 MEDNIK syndrome skos:exactMatch SCTID:722035007 semapv:UnspecifiedMatching MONDO:0012251 MEDNIK syndrome skos:exactMatch UMLS:C1836330 semapv:UnspecifiedMatching MONDO:0012251 MEDNIK syndrome skos:exactMatch mesh:C563739 semapv:UnspecifiedMatching MONDO:0012252 rhabdoid tumor predisposition syndrome 1 skos:exactMatch DOID:0070618 rhabdoid tumor predisposition syndrome 1 semapv:UnspecifiedMatching MONDO:0012252 rhabdoid tumor predisposition syndrome 1 skos:exactMatch MEDGEN:322892 semapv:UnspecifiedMatching MONDO:0012252 rhabdoid tumor predisposition syndrome 1 skos:exactMatch NCIT:C178393 Rhabdoid Tumor Predisposition Syndrome 1 semapv:UnspecifiedMatching MONDO:0012252 rhabdoid tumor predisposition syndrome 1 skos:exactMatch OMIM:609322 rhabdoid tumor predisposition syndrome 1 semapv:UnspecifiedMatching MONDO:0012252 rhabdoid tumor predisposition syndrome 1 skos:exactMatch UMLS:C1836327 semapv:UnspecifiedMatching MONDO:0012252 rhabdoid tumor predisposition syndrome 1 skos:exactMatch mesh:C563738 semapv:UnspecifiedMatching MONDO:0012253 multiple epiphyseal dysplasia, with severe proximal femoral dysplasia skos:exactMatch MEDGEN:324484 semapv:UnspecifiedMatching MONDO:0012253 multiple epiphyseal dysplasia, with severe proximal femoral dysplasia skos:exactMatch OMIM:609324 epiphyseal dysplasia, multiple, with severe proximal femoral dysplasia semapv:UnspecifiedMatching MONDO:0012253 multiple epiphyseal dysplasia, with severe proximal femoral dysplasia skos:exactMatch Orphanet:166029 Multiple epiphyseal dysplasia-severe proximal femoral dysplasia syndrome semapv:UnspecifiedMatching MONDO:0012253 multiple epiphyseal dysplasia, with severe proximal femoral dysplasia skos:exactMatch UMLS:C1836315 semapv:UnspecifiedMatching MONDO:0012253 multiple epiphyseal dysplasia, with severe proximal femoral dysplasia skos:exactMatch mesh:C563736 semapv:UnspecifiedMatching MONDO:0012254 multiple epiphyseal dysplasia, with miniepiphyses skos:exactMatch MEDGEN:332176 semapv:UnspecifiedMatching MONDO:0012254 multiple epiphyseal dysplasia, with miniepiphyses skos:exactMatch OMIM:609325 epiphyseal dysplasia, multiple, with miniepiphyses semapv:UnspecifiedMatching MONDO:0012254 multiple epiphyseal dysplasia, with miniepiphyses skos:exactMatch Orphanet:166032 Multiple epiphyseal dysplasia-miniepiphyses syndrome semapv:UnspecifiedMatching MONDO:0012254 multiple epiphyseal dysplasia, with miniepiphyses skos:exactMatch UMLS:C1836307 semapv:UnspecifiedMatching MONDO:0012254 multiple epiphyseal dysplasia, with miniepiphyses skos:exactMatch mesh:C563735 semapv:UnspecifiedMatching MONDO:0012255 chromosome 18 pericentric inversion skos:exactMatch MEDGEN:322886 semapv:UnspecifiedMatching MONDO:0012255 chromosome 18 pericentric inversion skos:exactMatch OMIM:609334 chromosome 18 pericentric inversion semapv:UnspecifiedMatching MONDO:0012255 chromosome 18 pericentric inversion skos:exactMatch UMLS:C1836305 semapv:UnspecifiedMatching MONDO:0012255 chromosome 18 pericentric inversion skos:exactMatch mesh:C563734 semapv:UnspecifiedMatching MONDO:0012256 hereditary spastic paraplegia 28 skos:exactMatch DOID:0110779 hereditary spastic paraplegia 28 semapv:UnspecifiedMatching MONDO:0012256 hereditary spastic paraplegia 28 skos:exactMatch MEDGEN:332174 semapv:UnspecifiedMatching MONDO:0012256 hereditary spastic paraplegia 28 skos:exactMatch OMIM:609340 spastic paraplegia 28, autosomal recessive semapv:UnspecifiedMatching MONDO:0012256 hereditary spastic paraplegia 28 skos:exactMatch Orphanet:101008 Autosomal recessive spastic paraplegia type 28 semapv:UnspecifiedMatching MONDO:0012256 hereditary spastic paraplegia 28 skos:exactMatch SCTID:763376002 semapv:UnspecifiedMatching MONDO:0012256 hereditary spastic paraplegia 28 skos:exactMatch UMLS:C1836295 semapv:UnspecifiedMatching MONDO:0012256 hereditary spastic paraplegia 28 skos:exactMatch mesh:C563732 semapv:UnspecifiedMatching MONDO:0012257 Cerebrorenodigital syndrome skos:exactMatch MEDGEN:373053 semapv:UnspecifiedMatching MONDO:0012257 Cerebrorenodigital syndrome skos:exactMatch OMIM:609345 cerebrorenodigital syndrome with limb malformations and triradiate acetabula semapv:UnspecifiedMatching MONDO:0012257 Cerebrorenodigital syndrome skos:exactMatch UMLS:C1836287 semapv:UnspecifiedMatching MONDO:0012257 Cerebrorenodigital syndrome skos:exactMatch mesh:C563731 semapv:UnspecifiedMatching MONDO:0012258 epidermolysis bullosa simplex 2E, with migratory circinate erythema skos:exactMatch MEDGEN:324475 semapv:UnspecifiedMatching MONDO:0012258 epidermolysis bullosa simplex 2E, with migratory circinate erythema skos:exactMatch OMIM:609352 epidermolysis bullosa simplex 2e, with migratory circinate erythema semapv:UnspecifiedMatching MONDO:0012258 epidermolysis bullosa simplex 2E, with migratory circinate erythema skos:exactMatch Orphanet:158681 Epidermolysis bullosa simplex with circinate migratory erythema semapv:UnspecifiedMatching MONDO:0012258 epidermolysis bullosa simplex 2E, with migratory circinate erythema skos:exactMatch SCTID:716700003 semapv:UnspecifiedMatching MONDO:0012258 epidermolysis bullosa simplex 2E, with migratory circinate erythema skos:exactMatch UMLS:C1836284 semapv:UnspecifiedMatching MONDO:0012258 epidermolysis bullosa simplex 2E, with migratory circinate erythema skos:exactMatch mesh:C563730 semapv:UnspecifiedMatching MONDO:0012259 colloid cysts of third ventricle skos:exactMatch MEDGEN:82744 semapv:UnspecifiedMatching MONDO:0012259 colloid cysts of third ventricle skos:exactMatch OMIM:609363 colloid cysts of third ventricle semapv:UnspecifiedMatching MONDO:0012259 colloid cysts of third ventricle skos:exactMatch UMLS:C0266481 semapv:UnspecifiedMatching MONDO:0012259 colloid cysts of third ventricle skos:exactMatch mesh:C535966 semapv:UnspecifiedMatching MONDO:0012260 cataract 35 skos:exactMatch DOID:0110261 cataract 35 semapv:UnspecifiedMatching MONDO:0012260 cataract 35 skos:exactMatch MEDGEN:373050 semapv:UnspecifiedMatching MONDO:0012260 cataract 35 skos:exactMatch OMIM:609376 cataract 35 semapv:UnspecifiedMatching MONDO:0012260 cataract 35 skos:exactMatch UMLS:C1836272 semapv:UnspecifiedMatching MONDO:0012260 cataract 35 skos:exactMatch mesh:C563728 semapv:UnspecifiedMatching MONDO:0012261 autism, susceptibility to, 6 skos:exactMatch MEDGEN:324472 semapv:UnspecifiedMatching MONDO:0012261 autism, susceptibility to, 6 skos:exactMatch OMIM:609378 autism, susceptibility to, 6 semapv:UnspecifiedMatching MONDO:0012261 autism, susceptibility to, 6 skos:exactMatch UMLS:C1836271 semapv:UnspecifiedMatching MONDO:0012262 fibrosis of extraocular muscles, congenital, 3c skos:exactMatch DOID:0081019 congenital fibrosis of the extraocular muscles 3C semapv:UnspecifiedMatching MONDO:0012262 fibrosis of extraocular muscles, congenital, 3c skos:exactMatch MEDGEN:412956 semapv:UnspecifiedMatching MONDO:0012262 fibrosis of extraocular muscles, congenital, 3c skos:exactMatch OMIM:609384 fibrosis of extraocular muscles, congenital, 3c semapv:UnspecifiedMatching MONDO:0012262 fibrosis of extraocular muscles, congenital, 3c skos:exactMatch UMLS:C2750404 semapv:UnspecifiedMatching MONDO:0012262 fibrosis of extraocular muscles, congenital, 3c skos:exactMatch mesh:C567666 semapv:UnspecifiedMatching MONDO:0012263 autoimmune disease, susceptibility to, 4 skos:exactMatch MEDGEN:332163 semapv:UnspecifiedMatching MONDO:0012263 autoimmune disease, susceptibility to, 4 skos:exactMatch OMIM:609400 autoimmune disease, susceptibility to, 4 semapv:UnspecifiedMatching MONDO:0012263 autoimmune disease, susceptibility to, 4 skos:exactMatch UMLS:C1836258 semapv:UnspecifiedMatching MONDO:0012264 preeclampsia/eclampsia 2 skos:exactMatch MEDGEN:322876 semapv:UnspecifiedMatching MONDO:0012264 preeclampsia/eclampsia 2 skos:exactMatch OMIM:609402 preeclampsia/eclampsia 2 semapv:UnspecifiedMatching MONDO:0012264 preeclampsia/eclampsia 2 skos:exactMatch UMLS:C1836257 semapv:UnspecifiedMatching MONDO:0012265 preeclampsia/eclampsia 3 skos:exactMatch MEDGEN:322875 semapv:UnspecifiedMatching MONDO:0012265 preeclampsia/eclampsia 3 skos:exactMatch OMIM:609403 preeclampsia/eclampsia 3 semapv:UnspecifiedMatching MONDO:0012265 preeclampsia/eclampsia 3 skos:exactMatch UMLS:C1836256 semapv:UnspecifiedMatching MONDO:0012266 preeclampsia/eclampsia 4 skos:exactMatch MEDGEN:322874 semapv:UnspecifiedMatching MONDO:0012266 preeclampsia/eclampsia 4 skos:exactMatch OMIM:609404 preeclampsia/eclampsia 4 semapv:UnspecifiedMatching MONDO:0012266 preeclampsia/eclampsia 4 skos:exactMatch UMLS:C1836255 semapv:UnspecifiedMatching MONDO:0012266 preeclampsia/eclampsia 4 skos:exactMatch mesh:C563724 semapv:UnspecifiedMatching MONDO:0012267 holoprosencephaly 8 skos:exactMatch DOID:0110879 holoprosencephaly 8 semapv:UnspecifiedMatching MONDO:0012267 holoprosencephaly 8 skos:exactMatch MEDGEN:322873 semapv:UnspecifiedMatching MONDO:0012267 holoprosencephaly 8 skos:exactMatch OMIM:609408 holoprosencephaly 8 semapv:UnspecifiedMatching MONDO:0012267 holoprosencephaly 8 skos:exactMatch UMLS:C1836254 semapv:UnspecifiedMatching MONDO:0012267 holoprosencephaly 8 skos:exactMatch mesh:C563723 semapv:UnspecifiedMatching MONDO:0012268 AIDS skos:exactMatch DOID:635 acquired immunodeficiency syndrome semapv:UnspecifiedMatching MONDO:0012268 AIDS skos:exactMatch EFO:0000765 semapv:UnspecifiedMatching MONDO:0012268 AIDS skos:exactMatch MEDGEN:99 semapv:UnspecifiedMatching MONDO:0012268 AIDS skos:exactMatch NCIT:C2851 Acquired Immunodeficiency Syndrome semapv:UnspecifiedMatching MONDO:0012268 AIDS skos:exactMatch SCTID:62479008 semapv:UnspecifiedMatching MONDO:0012268 AIDS skos:exactMatch UMLS:C0001175 semapv:UnspecifiedMatching MONDO:0012268 AIDS skos:exactMatch mesh:D000163 semapv:UnspecifiedMatching MONDO:0012269 chromosome 3q29 microdeletion syndrome skos:exactMatch DOID:0060419 chromosome 3q29 microdeletion syndrome semapv:UnspecifiedMatching MONDO:0012269 chromosome 3q29 microdeletion syndrome skos:exactMatch MEDGEN:393265 semapv:UnspecifiedMatching MONDO:0012269 chromosome 3q29 microdeletion syndrome skos:exactMatch OMIM:609425 chromosome 3q29 deletion syndrome semapv:UnspecifiedMatching MONDO:0012269 chromosome 3q29 microdeletion syndrome skos:exactMatch Orphanet:65286 3q29 microdeletion syndrome semapv:UnspecifiedMatching MONDO:0012269 chromosome 3q29 microdeletion syndrome skos:exactMatch SCTID:716456000 semapv:UnspecifiedMatching MONDO:0012269 chromosome 3q29 microdeletion syndrome skos:exactMatch UMLS:C2674949 semapv:UnspecifiedMatching MONDO:0012269 chromosome 3q29 microdeletion syndrome skos:exactMatch mesh:C567184 semapv:UnspecifiedMatching MONDO:0012270 Tukel syndrome skos:exactMatch DOID:0081021 Tukel syndrome semapv:UnspecifiedMatching MONDO:0012270 Tukel syndrome skos:exactMatch MEDGEN:332153 semapv:UnspecifiedMatching MONDO:0012270 Tukel syndrome skos:exactMatch OMIM:609428 tukel syndrome semapv:UnspecifiedMatching MONDO:0012270 Tukel syndrome skos:exactMatch UMLS:C1836217 semapv:UnspecifiedMatching MONDO:0012270 Tukel syndrome skos:exactMatch icd11.foundation:2132105652 Tukel syndrome semapv:UnspecifiedMatching MONDO:0012270 Tukel syndrome skos:exactMatch mesh:C536925 semapv:UnspecifiedMatching MONDO:0012271 mesoaxial synostotic syndactyly with phalangeal reduction skos:exactMatch MEDGEN:324459 semapv:UnspecifiedMatching MONDO:0012271 mesoaxial synostotic syndactyly with phalangeal reduction skos:exactMatch OMIM:609432 syndactyly, mesoaxial synostotic, with phalangeal reduction semapv:UnspecifiedMatching MONDO:0012271 mesoaxial synostotic syndactyly with phalangeal reduction skos:exactMatch Orphanet:157801 Mesoaxial synostotic syndactyly with phalangeal reduction semapv:UnspecifiedMatching MONDO:0012271 mesoaxial synostotic syndactyly with phalangeal reduction skos:exactMatch SCTID:724170007 semapv:UnspecifiedMatching MONDO:0012271 mesoaxial synostotic syndactyly with phalangeal reduction skos:exactMatch UMLS:C1836206 semapv:UnspecifiedMatching MONDO:0012271 mesoaxial synostotic syndactyly with phalangeal reduction skos:exactMatch mesh:C563721 semapv:UnspecifiedMatching MONDO:0012272 intellectual disability, keratoconus, febrile seizures, and sinoatrial block skos:exactMatch MEDGEN:324455 semapv:UnspecifiedMatching MONDO:0012272 intellectual disability, keratoconus, febrile seizures, and sinoatrial block skos:exactMatch OMIM:609438 intellectual developmental disorder with keratoconus, febrile seizures, and sinoatrial block semapv:UnspecifiedMatching MONDO:0012272 intellectual disability, keratoconus, febrile seizures, and sinoatrial block skos:exactMatch UMLS:C1836202 semapv:UnspecifiedMatching MONDO:0012272 intellectual disability, keratoconus, febrile seizures, and sinoatrial block skos:exactMatch mesh:C537452 semapv:UnspecifiedMatching MONDO:0012273 autosomal recessive nonsyndromic hearing loss 48 skos:exactMatch DOID:0110505 autosomal recessive nonsyndromic deafness 48 semapv:UnspecifiedMatching MONDO:0012273 autosomal recessive nonsyndromic hearing loss 48 skos:exactMatch MEDGEN:332149 semapv:UnspecifiedMatching MONDO:0012273 autosomal recessive nonsyndromic hearing loss 48 skos:exactMatch MEDGEN:766858 semapv:UnspecifiedMatching MONDO:0012273 autosomal recessive nonsyndromic hearing loss 48 skos:exactMatch OMIM:609439 deafness, autosomal recessive 48 semapv:UnspecifiedMatching MONDO:0012273 autosomal recessive nonsyndromic hearing loss 48 skos:exactMatch UMLS:C1836199 semapv:UnspecifiedMatching MONDO:0012273 autosomal recessive nonsyndromic hearing loss 48 skos:exactMatch UMLS:C3553944 semapv:UnspecifiedMatching MONDO:0012273 autosomal recessive nonsyndromic hearing loss 48 skos:exactMatch mesh:C563720 semapv:UnspecifiedMatching MONDO:0012274 acromesomelic dysplasia 3 skos:exactMatch DOID:0081237 acromesomelic dysplasia 3 semapv:UnspecifiedMatching MONDO:0012274 acromesomelic dysplasia 3 skos:exactMatch MEDGEN:904735 semapv:UnspecifiedMatching MONDO:0012274 acromesomelic dysplasia 3 skos:exactMatch OMIM:609441 acromesomelic dysplasia 3 semapv:UnspecifiedMatching MONDO:0012274 acromesomelic dysplasia 3 skos:exactMatch UMLS:C4225404 semapv:UnspecifiedMatching MONDO:0012274 acromesomelic dysplasia 3 skos:exactMatch mesh:C537913 semapv:UnspecifiedMatching MONDO:0012275 fetal valproate syndrome skos:exactMatch DOID:0060471 fetal valproate syndrome semapv:UnspecifiedMatching MONDO:0012275 fetal valproate syndrome skos:exactMatch MEDGEN:65922 semapv:UnspecifiedMatching MONDO:0012275 fetal valproate syndrome skos:exactMatch NCIT:C98930 Fetal Valproate Syndrome semapv:UnspecifiedMatching MONDO:0012275 fetal valproate syndrome skos:exactMatch OMIM:609442 valproate embryopathy, susceptibility to semapv:UnspecifiedMatching MONDO:0012275 fetal valproate syndrome skos:exactMatch Orphanet:1906 Fetal valproate spectrum disorder semapv:UnspecifiedMatching MONDO:0012275 fetal valproate syndrome skos:exactMatch SCTID:17231009 semapv:UnspecifiedMatching MONDO:0012275 fetal valproate syndrome skos:exactMatch UMLS:C0236026 semapv:UnspecifiedMatching MONDO:0012275 fetal valproate syndrome skos:exactMatch icd11.foundation:1055155432 Fetal Valproate Spectrum Disorder semapv:UnspecifiedMatching MONDO:0012275 fetal valproate syndrome skos:exactMatch mesh:C536525 semapv:UnspecifiedMatching MONDO:0012276 generalized epilepsy-paroxysmal dyskinesia syndrome skos:exactMatch DOID:0070442 paroxysmal nonkinesigenic dyskinesia 3 semapv:UnspecifiedMatching MONDO:0012276 generalized epilepsy-paroxysmal dyskinesia syndrome skos:exactMatch MEDGEN:1801137 semapv:UnspecifiedMatching MONDO:0012276 generalized epilepsy-paroxysmal dyskinesia syndrome skos:exactMatch OMIM:609446 paroxysmal nonkinesigenic dyskinesia 3 with or without generalized epilepsy semapv:UnspecifiedMatching MONDO:0012276 generalized epilepsy-paroxysmal dyskinesia syndrome skos:exactMatch Orphanet:79137 Generalized epilepsy-paroxysmal dyskinesia syndrome semapv:UnspecifiedMatching MONDO:0012276 generalized epilepsy-paroxysmal dyskinesia syndrome skos:exactMatch UMLS:C5574945 semapv:UnspecifiedMatching MONDO:0012276 generalized epilepsy-paroxysmal dyskinesia syndrome skos:exactMatch mesh:C563719 semapv:UnspecifiedMatching MONDO:0012277 myofibrillar myopathy 4 skos:exactMatch DOID:0080095 myofibrillar myopathy 4 semapv:UnspecifiedMatching MONDO:0012277 myofibrillar myopathy 4 skos:exactMatch MEDGEN:1648314 semapv:UnspecifiedMatching MONDO:0012277 myofibrillar myopathy 4 skos:exactMatch OMIM:609452 myopathy, myofibrillar, 4 semapv:UnspecifiedMatching MONDO:0012277 myofibrillar myopathy 4 skos:exactMatch Orphanet:98912 Late-onset distal myopathy, Markesbery-Griggs type semapv:UnspecifiedMatching MONDO:0012277 myofibrillar myopathy 4 skos:exactMatch UMLS:C4721886 semapv:UnspecifiedMatching MONDO:0012277 myofibrillar myopathy 4 skos:exactMatch mesh:C563718 semapv:UnspecifiedMatching MONDO:0012278 supranuclear palsy, progressive, 2 skos:exactMatch MEDGEN:324446 semapv:UnspecifiedMatching MONDO:0012278 supranuclear palsy, progressive, 2 skos:exactMatch OMIM:609454 supranuclear palsy, progressive, 2 semapv:UnspecifiedMatching MONDO:0012278 supranuclear palsy, progressive, 2 skos:exactMatch UMLS:C1836148 semapv:UnspecifiedMatching MONDO:0012278 supranuclear palsy, progressive, 2 skos:exactMatch mesh:C563717 semapv:UnspecifiedMatching MONDO:0012280 Goldberg-Shprintzen syndrome skos:exactMatch DOID:0060481 Goldberg-Shprintzen syndrome semapv:UnspecifiedMatching MONDO:0012280 Goldberg-Shprintzen syndrome skos:exactMatch MEDGEN:332131 semapv:UnspecifiedMatching MONDO:0012280 Goldberg-Shprintzen syndrome skos:exactMatch OMIM:609460 goldberg-shprintzen syndrome semapv:UnspecifiedMatching MONDO:0012280 Goldberg-Shprintzen syndrome skos:exactMatch Orphanet:66629 Goldberg-Shprintzen megacolon syndrome semapv:UnspecifiedMatching MONDO:0012280 Goldberg-Shprintzen syndrome skos:exactMatch SCTID:717822006 semapv:UnspecifiedMatching MONDO:0012280 Goldberg-Shprintzen syndrome skos:exactMatch UMLS:C1836123 semapv:UnspecifiedMatching MONDO:0012280 Goldberg-Shprintzen syndrome skos:exactMatch icd11.foundation:1750921468 Goldberg-Shprintzen megacolon syndrome semapv:UnspecifiedMatching MONDO:0012280 Goldberg-Shprintzen syndrome skos:exactMatch mesh:C537279 semapv:UnspecifiedMatching MONDO:0012282 Al-Gazali syndrome skos:exactMatch MEDGEN:373020 semapv:UnspecifiedMatching MONDO:0012282 Al-Gazali syndrome skos:exactMatch OMIM:609465 al-gazali syndrome semapv:UnspecifiedMatching MONDO:0012282 Al-Gazali syndrome skos:exactMatch UMLS:C1836121 semapv:UnspecifiedMatching MONDO:0012282 Al-Gazali syndrome skos:exactMatch mesh:C536817 semapv:UnspecifiedMatching MONDO:0012283 cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss skos:exactMatch MEDGEN:324442 semapv:UnspecifiedMatching MONDO:0012283 cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss skos:exactMatch OMIM:609466 cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss semapv:UnspecifiedMatching MONDO:0012283 cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss skos:exactMatch UMLS:C1836120 semapv:UnspecifiedMatching MONDO:0012283 cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss skos:exactMatch mesh:C536427 semapv:UnspecifiedMatching MONDO:0012284 nephropathy, progressive, with deafness skos:exactMatch MEDGEN:322828 semapv:UnspecifiedMatching MONDO:0012284 nephropathy, progressive, with deafness skos:exactMatch OMIM:609469 nephropathy, progressive, with deafness semapv:UnspecifiedMatching MONDO:0012284 nephropathy, progressive, with deafness skos:exactMatch UMLS:C1836119 semapv:UnspecifiedMatching MONDO:0012284 nephropathy, progressive, with deafness skos:exactMatch mesh:C563713 semapv:UnspecifiedMatching MONDO:0012285 left ventricular noncompaction 2 skos:exactMatch MEDGEN:322827 semapv:UnspecifiedMatching MONDO:0012285 left ventricular noncompaction 2 skos:exactMatch OMIM:609470 left ventricular noncompaction 2 semapv:UnspecifiedMatching MONDO:0012285 left ventricular noncompaction 2 skos:exactMatch UMLS:C1836118 semapv:UnspecifiedMatching MONDO:0012286 myopathy, autophagic vacuolar, infantile-onset skos:exactMatch MEDGEN:419364 semapv:UnspecifiedMatching MONDO:0012286 myopathy, autophagic vacuolar, infantile-onset skos:exactMatch OMIM:609500 myopathy, autophagic vacuolar, infantile-onset semapv:UnspecifiedMatching MONDO:0012286 myopathy, autophagic vacuolar, infantile-onset skos:exactMatch UMLS:C2931230 semapv:UnspecifiedMatching MONDO:0012287 Stickler syndrome, type I, nonsyndromic ocular skos:exactMatch MEDGEN:322820 semapv:UnspecifiedMatching MONDO:0012287 Stickler syndrome, type I, nonsyndromic ocular skos:exactMatch OMIM:609508 stickler syndrome, type i, nonsyndromic ocular semapv:UnspecifiedMatching MONDO:0012287 Stickler syndrome, type I, nonsyndromic ocular skos:exactMatch UMLS:C1836080 semapv:UnspecifiedMatching MONDO:0012287 Stickler syndrome, type I, nonsyndromic ocular skos:exactMatch mesh:C563709 semapv:UnspecifiedMatching MONDO:0012288 iridogoniodysgenesis and skeletal anomalies skos:exactMatch MEDGEN:373009 semapv:UnspecifiedMatching MONDO:0012288 iridogoniodysgenesis and skeletal anomalies skos:exactMatch OMIM:609515 iridogoniodysgenesis and skeletal anomalies semapv:UnspecifiedMatching MONDO:0012288 iridogoniodysgenesis and skeletal anomalies skos:exactMatch UMLS:C1836074 semapv:UnspecifiedMatching MONDO:0012288 iridogoniodysgenesis and skeletal anomalies skos:exactMatch mesh:C535534 semapv:UnspecifiedMatching MONDO:0012289 myofibrillar myopathy 5 skos:exactMatch DOID:0080096 myofibrillar myopathy 5 semapv:UnspecifiedMatching MONDO:0012289 myofibrillar myopathy 5 skos:exactMatch MEDGEN:372186 semapv:UnspecifiedMatching MONDO:0012289 myofibrillar myopathy 5 skos:exactMatch OMIM:609524 myopathy, myofibrillar, 5 semapv:UnspecifiedMatching MONDO:0012289 myofibrillar myopathy 5 skos:exactMatch Orphanet:171445 Muscle filaminopathy semapv:UnspecifiedMatching MONDO:0012289 myofibrillar myopathy 5 skos:exactMatch UMLS:C1836050 semapv:UnspecifiedMatching MONDO:0012289 myofibrillar myopathy 5 skos:exactMatch mesh:C537932 semapv:UnspecifiedMatching MONDO:0012290 CEDNIK syndrome skos:exactMatch DOID:0060337 CEDNIK syndrome semapv:UnspecifiedMatching MONDO:0012290 CEDNIK syndrome skos:exactMatch MEDGEN:332113 semapv:UnspecifiedMatching MONDO:0012290 CEDNIK syndrome skos:exactMatch OMIM:609528 cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome semapv:UnspecifiedMatching MONDO:0012290 CEDNIK syndrome skos:exactMatch Orphanet:66631 CEDNIK syndrome semapv:UnspecifiedMatching MONDO:0012290 CEDNIK syndrome skos:exactMatch SCTID:722385008 semapv:UnspecifiedMatching MONDO:0012290 CEDNIK syndrome skos:exactMatch UMLS:C1836033 semapv:UnspecifiedMatching MONDO:0012290 CEDNIK syndrome skos:exactMatch mesh:C537943 semapv:UnspecifiedMatching MONDO:0012291 immunoglobulin A deficiency 2 skos:exactMatch MEDGEN:372182 semapv:UnspecifiedMatching MONDO:0012291 immunoglobulin A deficiency 2 skos:exactMatch OMIM:609529 immunoglobulin a deficiency 2 semapv:UnspecifiedMatching MONDO:0012291 immunoglobulin A deficiency 2 skos:exactMatch UMLS:C1836032 semapv:UnspecifiedMatching MONDO:0012291 immunoglobulin A deficiency 2 skos:exactMatch mesh:C536291 semapv:UnspecifiedMatching MONDO:0012292 hepatitis C virus, susceptibility to skos:exactMatch MEDGEN:322657 semapv:UnspecifiedMatching MONDO:0012292 hepatitis C virus, susceptibility to skos:exactMatch OMIM:609532 hepatitis c virus, susceptibility to semapv:UnspecifiedMatching MONDO:0012292 hepatitis C virus, susceptibility to skos:exactMatch UMLS:C1835407 semapv:UnspecifiedMatching MONDO:0012293 autosomal recessive nonsyndromic hearing loss 23 skos:exactMatch DOID:0110481 autosomal recessive nonsyndromic deafness 23 semapv:UnspecifiedMatching MONDO:0012293 autosomal recessive nonsyndromic hearing loss 23 skos:exactMatch MEDGEN:332110 semapv:UnspecifiedMatching MONDO:0012293 autosomal recessive nonsyndromic hearing loss 23 skos:exactMatch OMIM:609533 deafness, autosomal recessive 23 semapv:UnspecifiedMatching MONDO:0012293 autosomal recessive nonsyndromic hearing loss 23 skos:exactMatch UMLS:C1836027 semapv:UnspecifiedMatching MONDO:0012293 autosomal recessive nonsyndromic hearing loss 23 skos:exactMatch mesh:C563705 semapv:UnspecifiedMatching MONDO:0012294 obsolete drug metabolism, poor, Cyp2C19-related skos:exactMatch OMIM:609535 drug metabolism, altered, cyp2c19-related semapv:UnspecifiedMatching MONDO:0012295 complement component 5 deficiency skos:exactMatch DOID:8158 complement component 5 deficiency semapv:UnspecifiedMatching MONDO:0012295 complement component 5 deficiency skos:exactMatch MEDGEN:91003 semapv:UnspecifiedMatching MONDO:0012295 complement component 5 deficiency skos:exactMatch NCIT:C9469 C5 Deficiency semapv:UnspecifiedMatching MONDO:0012295 complement component 5 deficiency skos:exactMatch OMIM:609536 complement component 5 deficiency semapv:UnspecifiedMatching MONDO:0012295 complement component 5 deficiency skos:exactMatch UMLS:C0343047 semapv:UnspecifiedMatching MONDO:0012296 lipomyelomeningocele skos:exactMatch MEDGEN:332109 semapv:UnspecifiedMatching MONDO:0012296 lipomyelomeningocele skos:exactMatch OMIM:609537 lipomyelomeningocele semapv:UnspecifiedMatching MONDO:0012296 lipomyelomeningocele skos:exactMatch SCTID:104431000119107 semapv:UnspecifiedMatching MONDO:0012296 lipomyelomeningocele skos:exactMatch UMLS:C1836022 semapv:UnspecifiedMatching MONDO:0012296 lipomyelomeningocele skos:exactMatch icd11.foundation:1919145296 Lipomyelomeningocele semapv:UnspecifiedMatching MONDO:0012296 lipomyelomeningocele skos:exactMatch mesh:C537030 semapv:UnspecifiedMatching MONDO:0012297 spastic paraplegia, optic atropy, and neuropathy skos:exactMatch DOID:0060491 SPOAN syndrome semapv:UnspecifiedMatching MONDO:0012297 spastic paraplegia, optic atropy, and neuropathy skos:exactMatch MEDGEN:324411 semapv:UnspecifiedMatching MONDO:0012297 spastic paraplegia, optic atropy, and neuropathy skos:exactMatch OMIM:609541 spastic paraplegia, optic atrophy, and neuropathy semapv:UnspecifiedMatching MONDO:0012297 spastic paraplegia, optic atropy, and neuropathy skos:exactMatch Orphanet:320406 Spastic paraplegia-optic atrophy-neuropathy syndrome semapv:UnspecifiedMatching MONDO:0012297 spastic paraplegia, optic atropy, and neuropathy skos:exactMatch UMLS:C1836010 semapv:UnspecifiedMatching MONDO:0012297 spastic paraplegia, optic atropy, and neuropathy skos:exactMatch mesh:C563702 semapv:UnspecifiedMatching MONDO:0012298 omphalocele, diaphragmatic hernia, and radial ray defects skos:exactMatch MEDGEN:332105 semapv:UnspecifiedMatching MONDO:0012298 omphalocele, diaphragmatic hernia, and radial ray defects skos:exactMatch OMIM:609545 omphalocele, diaphragmatic hernia, and radial ray defects semapv:UnspecifiedMatching MONDO:0012298 omphalocele, diaphragmatic hernia, and radial ray defects skos:exactMatch UMLS:C1836007 semapv:UnspecifiedMatching MONDO:0012298 omphalocele, diaphragmatic hernia, and radial ray defects skos:exactMatch mesh:C563701 semapv:UnspecifiedMatching MONDO:0012299 nanophthalmos 2 skos:exactMatch MEDGEN:372177 semapv:UnspecifiedMatching MONDO:0012299 nanophthalmos 2 skos:exactMatch OMIM:609549 nanophthalmos 2 semapv:UnspecifiedMatching MONDO:0012299 nanophthalmos 2 skos:exactMatch UMLS:C1836006 semapv:UnspecifiedMatching MONDO:0012299 nanophthalmos 2 skos:exactMatch mesh:C563700 semapv:UnspecifiedMatching MONDO:0012300 prostate cancer, hereditary, 6 skos:exactMatch MEDGEN:322797 semapv:UnspecifiedMatching MONDO:0012300 prostate cancer, hereditary, 6 skos:exactMatch OMIM:609558 prostate cancer, hereditary, 6 semapv:UnspecifiedMatching MONDO:0012300 prostate cancer, hereditary, 6 skos:exactMatch UMLS:C1836005 semapv:UnspecifiedMatching MONDO:0012300 prostate cancer, hereditary, 6 skos:exactMatch mesh:C563699 semapv:UnspecifiedMatching MONDO:0012301 mitochondrial DNA depletion syndrome, myopathic form skos:exactMatch DOID:0080120 mitochondrial DNA depletion syndrome 2 semapv:UnspecifiedMatching MONDO:0012301 mitochondrial DNA depletion syndrome, myopathic form skos:exactMatch MEDGEN:461100 semapv:UnspecifiedMatching MONDO:0012301 mitochondrial DNA depletion syndrome, myopathic form skos:exactMatch OMIM:609560 mitochondrial DNA depletion syndrome 2 (myopathic type) semapv:UnspecifiedMatching MONDO:0012301 mitochondrial DNA depletion syndrome, myopathic form skos:exactMatch Orphanet:254875 Mitochondrial DNA depletion syndrome, myopathic form semapv:UnspecifiedMatching MONDO:0012301 mitochondrial DNA depletion syndrome, myopathic form skos:exactMatch SCTID:703527003 semapv:UnspecifiedMatching MONDO:0012301 mitochondrial DNA depletion syndrome, myopathic form skos:exactMatch UMLS:C3149750 semapv:UnspecifiedMatching MONDO:0012301 mitochondrial DNA depletion syndrome, myopathic form skos:exactMatch icd11.foundation:294556832 Mitochondrial DNA depletion syndrome, myopathic form semapv:UnspecifiedMatching MONDO:0012301 mitochondrial DNA depletion syndrome, myopathic form skos:exactMatch mesh:C563698 semapv:UnspecifiedMatching MONDO:0012302 parietal foramina 3 skos:exactMatch MEDGEN:322792 semapv:UnspecifiedMatching MONDO:0012302 parietal foramina 3 skos:exactMatch OMIM:609566 parietal foramina 3 semapv:UnspecifiedMatching MONDO:0012302 parietal foramina 3 skos:exactMatch UMLS:C1835980 semapv:UnspecifiedMatching MONDO:0012302 parietal foramina 3 skos:exactMatch mesh:C563697 semapv:UnspecifiedMatching MONDO:0012303 migraine with or without aura, susceptibility to, 8 skos:exactMatch MEDGEN:332101 semapv:UnspecifiedMatching MONDO:0012303 migraine with or without aura, susceptibility to, 8 skos:exactMatch OMIM:609570 migraine with or without aura, susceptibility to, 8 semapv:UnspecifiedMatching MONDO:0012303 migraine with or without aura, susceptibility to, 8 skos:exactMatch UMLS:C1835968 semapv:UnspecifiedMatching MONDO:0012304 photoparoxysmal response 2 skos:exactMatch MEDGEN:324401 semapv:UnspecifiedMatching MONDO:0012304 photoparoxysmal response 2 skos:exactMatch OMIM:609572 photoparoxysmal response 2 semapv:UnspecifiedMatching MONDO:0012304 photoparoxysmal response 2 skos:exactMatch UMLS:C1835967 semapv:UnspecifiedMatching MONDO:0012305 photoparoxysmal response 3 skos:exactMatch MEDGEN:372169 semapv:UnspecifiedMatching MONDO:0012305 photoparoxysmal response 3 skos:exactMatch OMIM:609573 photoparoxysmal response 3 semapv:UnspecifiedMatching MONDO:0012305 photoparoxysmal response 3 skos:exactMatch UMLS:C1835966 semapv:UnspecifiedMatching MONDO:0012305 photoparoxysmal response 3 skos:exactMatch mesh:C563695 semapv:UnspecifiedMatching MONDO:0012306 cardiomyopathy, familial restrictive, 2 skos:exactMatch DOID:0111426 familial restrictive cardiomyopathy 2 semapv:UnspecifiedMatching MONDO:0012306 cardiomyopathy, familial restrictive, 2 skos:exactMatch MEDGEN:400673 semapv:UnspecifiedMatching MONDO:0012306 cardiomyopathy, familial restrictive, 2 skos:exactMatch OMIM:609578 cardiomyopathy, familial restrictive, 2 semapv:UnspecifiedMatching MONDO:0012306 cardiomyopathy, familial restrictive, 2 skos:exactMatch UMLS:C1865071 semapv:UnspecifiedMatching MONDO:0012306 cardiomyopathy, familial restrictive, 2 skos:exactMatch mesh:C566512 semapv:UnspecifiedMatching MONDO:0012307 familial scaphocephaly syndrome, McGillivray type skos:exactMatch MEDGEN:355365 semapv:UnspecifiedMatching MONDO:0012307 familial scaphocephaly syndrome, McGillivray type skos:exactMatch OMIM:609579 scaphocephaly, maxillary retrusion, and impaired intellectual development semapv:UnspecifiedMatching MONDO:0012307 familial scaphocephaly syndrome, McGillivray type skos:exactMatch Orphanet:168624 Familial scaphocephaly syndrome, McGillivray type semapv:UnspecifiedMatching MONDO:0012307 familial scaphocephaly syndrome, McGillivray type skos:exactMatch UMLS:C1865070 semapv:UnspecifiedMatching MONDO:0012307 familial scaphocephaly syndrome, McGillivray type skos:exactMatch icd11.foundation:512057922 Familial scaphocephaly syndrome, McGillivray type semapv:UnspecifiedMatching MONDO:0012307 familial scaphocephaly syndrome, McGillivray type skos:exactMatch mesh:C566511 semapv:UnspecifiedMatching MONDO:0012308 Joubert syndrome with renal defect skos:exactMatch DOID:0110999 Joubert syndrome 4 semapv:UnspecifiedMatching MONDO:0012308 Joubert syndrome with renal defect skos:exactMatch MEDGEN:335526 semapv:UnspecifiedMatching MONDO:0012308 Joubert syndrome with renal defect skos:exactMatch NCIT:C74997 Joubert Syndrome 4 semapv:UnspecifiedMatching MONDO:0012308 Joubert syndrome with renal defect skos:exactMatch OMIM:609583 joubert syndrome 4 semapv:UnspecifiedMatching MONDO:0012308 Joubert syndrome with renal defect skos:exactMatch Orphanet:220497 Joubert syndrome with renal defect semapv:UnspecifiedMatching MONDO:0012308 Joubert syndrome with renal defect skos:exactMatch SCTID:716999001 semapv:UnspecifiedMatching MONDO:0012308 Joubert syndrome with renal defect skos:exactMatch UMLS:C1846790 semapv:UnspecifiedMatching MONDO:0012308 Joubert syndrome with renal defect skos:exactMatch icd11.foundation:1419767028 Joubert syndrome with renal defect semapv:UnspecifiedMatching MONDO:0012308 Joubert syndrome with renal defect skos:exactMatch mesh:C536296 semapv:UnspecifiedMatching MONDO:0012309 parietal foramina 2 skos:exactMatch MEDGEN:355358 semapv:UnspecifiedMatching MONDO:0012309 parietal foramina 2 skos:exactMatch OMIM:609597 parietal foramina 2 semapv:UnspecifiedMatching MONDO:0012309 parietal foramina 2 skos:exactMatch UMLS:C1865044 semapv:UnspecifiedMatching MONDO:0012309 parietal foramina 2 skos:exactMatch mesh:C566510 semapv:UnspecifiedMatching MONDO:0012310 fibrosis of extraocular muscles, congenital, with synergistic divergence skos:exactMatch MEDGEN:351285 semapv:UnspecifiedMatching MONDO:0012310 fibrosis of extraocular muscles, congenital, with synergistic divergence skos:exactMatch OMIM:609612 fibrosis of extraocular muscles, congenital, with synergistic divergence semapv:UnspecifiedMatching MONDO:0012310 fibrosis of extraocular muscles, congenital, with synergistic divergence skos:exactMatch UMLS:C1865040 semapv:UnspecifiedMatching MONDO:0012310 fibrosis of extraocular muscles, congenital, with synergistic divergence skos:exactMatch mesh:C566508 semapv:UnspecifiedMatching MONDO:0012311 spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctate calcifications, and deafness skos:exactMatch MEDGEN:355893 semapv:UnspecifiedMatching MONDO:0012311 spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctate calcifications, and deafness skos:exactMatch OMIM:609616 spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctate calcifications, and deafness semapv:UnspecifiedMatching MONDO:0012311 spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctate calcifications, and deafness skos:exactMatch UMLS:C1865022 semapv:UnspecifiedMatching MONDO:0012311 spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctate calcifications, and deafness skos:exactMatch mesh:C566507 semapv:UnspecifiedMatching MONDO:0012312 short QT syndrome type 1 skos:exactMatch MEDGEN:355891 semapv:UnspecifiedMatching MONDO:0012312 short QT syndrome type 1 skos:exactMatch OMIM:609620 short qt syndrome 1 semapv:UnspecifiedMatching MONDO:0012312 short QT syndrome type 1 skos:exactMatch UMLS:C1865020 semapv:UnspecifiedMatching MONDO:0012312 short QT syndrome type 1 skos:exactMatch mesh:C566506 semapv:UnspecifiedMatching MONDO:0012313 short QT syndrome type 2 skos:exactMatch MEDGEN:355890 semapv:UnspecifiedMatching MONDO:0012313 short QT syndrome type 2 skos:exactMatch OMIM:609621 short qt syndrome 2 semapv:UnspecifiedMatching MONDO:0012313 short QT syndrome type 2 skos:exactMatch UMLS:C1865019 semapv:UnspecifiedMatching MONDO:0012313 short QT syndrome type 2 skos:exactMatch mesh:C566505 semapv:UnspecifiedMatching MONDO:0012314 short QT syndrome type 3 skos:exactMatch MEDGEN:400662 semapv:UnspecifiedMatching MONDO:0012314 short QT syndrome type 3 skos:exactMatch OMIM:609622 short qt syndrome 3 semapv:UnspecifiedMatching MONDO:0012314 short QT syndrome type 3 skos:exactMatch UMLS:C1865018 semapv:UnspecifiedMatching MONDO:0012314 short QT syndrome type 3 skos:exactMatch mesh:C566504 semapv:UnspecifiedMatching MONDO:0012315 distal 10q deletion syndrome skos:exactMatch DOID:0060390 distal 10q deletion syndrome semapv:UnspecifiedMatching MONDO:0012315 distal 10q deletion syndrome skos:exactMatch MEDGEN:436306 semapv:UnspecifiedMatching MONDO:0012315 distal 10q deletion syndrome skos:exactMatch OMIM:609625 chromosome 10q26 deletion syndrome semapv:UnspecifiedMatching MONDO:0012315 distal 10q deletion syndrome skos:exactMatch Orphanet:96148 Distal deletion 10q syndrome semapv:UnspecifiedMatching MONDO:0012315 distal 10q deletion syndrome skos:exactMatch SCTID:718687003 semapv:UnspecifiedMatching MONDO:0012315 distal 10q deletion syndrome skos:exactMatch UMLS:C2674937 semapv:UnspecifiedMatching MONDO:0012315 distal 10q deletion syndrome skos:exactMatch mesh:C567182 semapv:UnspecifiedMatching MONDO:0012316 Majeed syndrome skos:exactMatch DOID:0061224 Majeed syndrome semapv:UnspecifiedMatching MONDO:0012316 Majeed syndrome skos:exactMatch MEDGEN:351273 semapv:UnspecifiedMatching MONDO:0012316 Majeed syndrome skos:exactMatch NCIT:C119058 Majeed Syndrome semapv:UnspecifiedMatching MONDO:0012316 Majeed syndrome skos:exactMatch OMIM:609628 majeed syndrome semapv:UnspecifiedMatching MONDO:0012316 Majeed syndrome skos:exactMatch Orphanet:77297 Majeed syndrome semapv:UnspecifiedMatching MONDO:0012316 Majeed syndrome skos:exactMatch SCTID:703540008 semapv:UnspecifiedMatching MONDO:0012316 Majeed syndrome skos:exactMatch UMLS:C1864997 semapv:UnspecifiedMatching MONDO:0012316 Majeed syndrome skos:exactMatch icd11.foundation:1316564349 Majeed syndrome semapv:UnspecifiedMatching MONDO:0012316 Majeed syndrome skos:exactMatch mesh:C537839 semapv:UnspecifiedMatching MONDO:0012317 visceral neuropathy, familial, 3, autosomal dominant skos:exactMatch DOID:0080682 autosomal dominant familial visceral neuropathy semapv:UnspecifiedMatching MONDO:0012317 visceral neuropathy, familial, 3, autosomal dominant skos:exactMatch MEDGEN:351272 semapv:UnspecifiedMatching MONDO:0012317 visceral neuropathy, familial, 3, autosomal dominant skos:exactMatch OMIM:609629 visceral neuropathy, familial, 3, autosomal dominant semapv:UnspecifiedMatching MONDO:0012317 visceral neuropathy, familial, 3, autosomal dominant skos:exactMatch UMLS:C1864996 semapv:UnspecifiedMatching MONDO:0012318 leukemia, chronic lymphocytic, susceptibility to, 1 skos:exactMatch MEDGEN:351271 semapv:UnspecifiedMatching MONDO:0012318 leukemia, chronic lymphocytic, susceptibility to, 1 skos:exactMatch OMIM:609630 leukemia, chronic lymphocytic, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0012318 leukemia, chronic lymphocytic, susceptibility to, 1 skos:exactMatch UMLS:C1864995 semapv:UnspecifiedMatching MONDO:0012319 major affective disorder 3 skos:exactMatch MEDGEN:351270 semapv:UnspecifiedMatching MONDO:0012319 major affective disorder 3 skos:exactMatch OMIM:609633 major affective disorder 3 semapv:UnspecifiedMatching MONDO:0012319 major affective disorder 3 skos:exactMatch UMLS:C1864994 semapv:UnspecifiedMatching MONDO:0012319 major affective disorder 3 skos:exactMatch mesh:C566501 semapv:UnspecifiedMatching MONDO:0012320 migraine, familial hemiplegic, 3 skos:exactMatch DOID:0111183 familial hemiplegic migraine 3 semapv:UnspecifiedMatching MONDO:0012320 migraine, familial hemiplegic, 3 skos:exactMatch MEDGEN:400655 semapv:UnspecifiedMatching MONDO:0012320 migraine, familial hemiplegic, 3 skos:exactMatch OMIM:609634 migraine, familial hemiplegic, 3 semapv:UnspecifiedMatching MONDO:0012320 migraine, familial hemiplegic, 3 skos:exactMatch UMLS:C1864987 semapv:UnspecifiedMatching MONDO:0012320 migraine, familial hemiplegic, 3 skos:exactMatch mesh:C566500 semapv:UnspecifiedMatching MONDO:0012321 Alzheimer disease 10 skos:exactMatch DOID:0110043 Alzheimer's disease 10 semapv:UnspecifiedMatching MONDO:0012321 Alzheimer disease 10 skos:exactMatch MEDGEN:351228 semapv:UnspecifiedMatching MONDO:0012321 Alzheimer disease 10 skos:exactMatch OMIM:609636 alzheimer disease 10 semapv:UnspecifiedMatching MONDO:0012321 Alzheimer disease 10 skos:exactMatch UMLS:C1864828 semapv:UnspecifiedMatching MONDO:0012321 Alzheimer disease 10 skos:exactMatch mesh:C566465 semapv:UnspecifiedMatching MONDO:0012322 holoprosencephaly 5 skos:exactMatch DOID:0110878 holoprosencephaly 5 semapv:UnspecifiedMatching MONDO:0012322 holoprosencephaly 5 skos:exactMatch MEDGEN:355304 semapv:UnspecifiedMatching MONDO:0012322 holoprosencephaly 5 skos:exactMatch NCIT:C75460 Holoprosencephaly Type 5 semapv:UnspecifiedMatching MONDO:0012322 holoprosencephaly 5 skos:exactMatch OMIM:609637 holoprosencephaly 5 semapv:UnspecifiedMatching MONDO:0012322 holoprosencephaly 5 skos:exactMatch UMLS:C1864827 semapv:UnspecifiedMatching MONDO:0012322 holoprosencephaly 5 skos:exactMatch mesh:C566464 semapv:UnspecifiedMatching MONDO:0012323 lethal acantholytic epidermolysis bullosa skos:exactMatch MEDGEN:400622 semapv:UnspecifiedMatching MONDO:0012323 lethal acantholytic epidermolysis bullosa skos:exactMatch OMIM:609638 epidermolysis bullosa, lethal acantholytic semapv:UnspecifiedMatching MONDO:0012323 lethal acantholytic epidermolysis bullosa skos:exactMatch Orphanet:158687 Lethal acantholytic erosive disorder semapv:UnspecifiedMatching MONDO:0012323 lethal acantholytic epidermolysis bullosa skos:exactMatch UMLS:C1864826 semapv:UnspecifiedMatching MONDO:0012323 lethal acantholytic epidermolysis bullosa skos:exactMatch mesh:C535493 semapv:UnspecifiedMatching MONDO:0012324 Frias syndrome skos:exactMatch MEDGEN:400621 semapv:UnspecifiedMatching MONDO:0012324 Frias syndrome skos:exactMatch OMIM:609640 frias syndrome semapv:UnspecifiedMatching MONDO:0012324 Frias syndrome skos:exactMatch Orphanet:264200 14q22q23 microdeletion syndrome semapv:UnspecifiedMatching MONDO:0012324 Frias syndrome skos:exactMatch UMLS:C1864825 semapv:UnspecifiedMatching MONDO:0012324 Frias syndrome skos:exactMatch mesh:C535639 semapv:UnspecifiedMatching MONDO:0012325 Nguyen syndrome skos:exactMatch MEDGEN:400620 semapv:UnspecifiedMatching MONDO:0012325 Nguyen syndrome skos:exactMatch OMIM:609643 nguyen syndrome semapv:UnspecifiedMatching MONDO:0012325 Nguyen syndrome skos:exactMatch UMLS:C1864823 semapv:UnspecifiedMatching MONDO:0012325 Nguyen syndrome skos:exactMatch mesh:C536115 semapv:UnspecifiedMatching MONDO:0012326 autosomal recessive nonsyndromic hearing loss 42 skos:exactMatch DOID:0110500 autosomal recessive nonsyndromic deafness 42 semapv:UnspecifiedMatching MONDO:0012326 autosomal recessive nonsyndromic hearing loss 42 skos:exactMatch MEDGEN:351225 semapv:UnspecifiedMatching MONDO:0012326 autosomal recessive nonsyndromic hearing loss 42 skos:exactMatch OMIM:609646 deafness, autosomal recessive 42 semapv:UnspecifiedMatching MONDO:0012326 autosomal recessive nonsyndromic hearing loss 42 skos:exactMatch UMLS:C1864818 semapv:UnspecifiedMatching MONDO:0012326 autosomal recessive nonsyndromic hearing loss 42 skos:exactMatch mesh:C566460 semapv:UnspecifiedMatching MONDO:0012327 autosomal recessive nonsyndromic hearing loss 46 skos:exactMatch DOID:0110503 autosomal recessive nonsyndromic deafness 46 semapv:UnspecifiedMatching MONDO:0012327 autosomal recessive nonsyndromic hearing loss 46 skos:exactMatch MEDGEN:355302 semapv:UnspecifiedMatching MONDO:0012327 autosomal recessive nonsyndromic hearing loss 46 skos:exactMatch OMIM:609647 deafness, autosomal recessive 46 semapv:UnspecifiedMatching MONDO:0012327 autosomal recessive nonsyndromic hearing loss 46 skos:exactMatch UMLS:C1864815 semapv:UnspecifiedMatching MONDO:0012327 autosomal recessive nonsyndromic hearing loss 46 skos:exactMatch mesh:C566459 semapv:UnspecifiedMatching MONDO:0012328 trichilemmal cyst skos:exactMatch MEDGEN:389216 semapv:UnspecifiedMatching MONDO:0012328 trichilemmal cyst skos:exactMatch OMIM:609649 trichilemmal cyst 1 semapv:UnspecifiedMatching MONDO:0012328 trichilemmal cyst skos:exactMatch SCTID:254677004 semapv:UnspecifiedMatching MONDO:0012328 trichilemmal cyst skos:exactMatch UMLS:C2266788 semapv:UnspecifiedMatching MONDO:0012328 trichilemmal cyst skos:exactMatch icd11.foundation:150930710 Trichilemmal cyst semapv:UnspecifiedMatching MONDO:0012329 short stature and Facioauriculothoracic malformations skos:exactMatch MEDGEN:351216 semapv:UnspecifiedMatching MONDO:0012329 short stature and Facioauriculothoracic malformations skos:exactMatch OMIM:609654 short stature and facioauriculothoracic malformations semapv:UnspecifiedMatching MONDO:0012329 short stature and Facioauriculothoracic malformations skos:exactMatch UMLS:C1864791 semapv:UnspecifiedMatching MONDO:0012329 short stature and Facioauriculothoracic malformations skos:exactMatch mesh:C566457 semapv:UnspecifiedMatching MONDO:0012330 talo-patello-scaphoid osteolysis skos:exactMatch MEDGEN:400611 semapv:UnspecifiedMatching MONDO:0012330 talo-patello-scaphoid osteolysis skos:exactMatch OMIM:609655 talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals semapv:UnspecifiedMatching MONDO:0012330 talo-patello-scaphoid osteolysis skos:exactMatch Orphanet:50809 Talo-patello-scaphoid osteolysis semapv:UnspecifiedMatching MONDO:0012330 talo-patello-scaphoid osteolysis skos:exactMatch UMLS:C1864784 semapv:UnspecifiedMatching MONDO:0012330 talo-patello-scaphoid osteolysis skos:exactMatch icd11.foundation:1276091756 Talo-patello-scaphoid osteolysis semapv:UnspecifiedMatching MONDO:0012330 talo-patello-scaphoid osteolysis skos:exactMatch mesh:C536894 semapv:UnspecifiedMatching MONDO:0012331 migraine with aura, susceptibility to, 9 skos:exactMatch MEDGEN:400609 semapv:UnspecifiedMatching MONDO:0012331 migraine with aura, susceptibility to, 9 skos:exactMatch OMIM:609670 migraine with aura, susceptibility to, 9 semapv:UnspecifiedMatching MONDO:0012331 migraine with aura, susceptibility to, 9 skos:exactMatch UMLS:C1864772 semapv:UnspecifiedMatching MONDO:0012333 autosomal recessive nonsyndromic hearing loss 53 skos:exactMatch DOID:0110509 autosomal recessive nonsyndromic deafness 53 semapv:UnspecifiedMatching MONDO:0012333 autosomal recessive nonsyndromic hearing loss 53 skos:exactMatch MEDGEN:400602 semapv:UnspecifiedMatching MONDO:0012333 autosomal recessive nonsyndromic hearing loss 53 skos:exactMatch OMIM:609706 deafness, autosomal recessive 53 semapv:UnspecifiedMatching MONDO:0012333 autosomal recessive nonsyndromic hearing loss 53 skos:exactMatch UMLS:C1864746 semapv:UnspecifiedMatching MONDO:0012333 autosomal recessive nonsyndromic hearing loss 53 skos:exactMatch mesh:C566453 semapv:UnspecifiedMatching MONDO:0012334 hereditary spastic paraplegia 29 skos:exactMatch DOID:0110780 hereditary spastic paraplegia 29 semapv:UnspecifiedMatching MONDO:0012334 hereditary spastic paraplegia 29 skos:exactMatch MEDGEN:346682 semapv:UnspecifiedMatching MONDO:0012334 hereditary spastic paraplegia 29 skos:exactMatch OMIM:609727 spastic paraplegia 29, autosomal dominant semapv:UnspecifiedMatching MONDO:0012334 hereditary spastic paraplegia 29 skos:exactMatch Orphanet:101009 Autosomal dominant spastic paraplegia type 29 semapv:UnspecifiedMatching MONDO:0012334 hereditary spastic paraplegia 29 skos:exactMatch SCTID:733029008 semapv:UnspecifiedMatching MONDO:0012334 hereditary spastic paraplegia 29 skos:exactMatch UMLS:C1857855 semapv:UnspecifiedMatching MONDO:0012334 hereditary spastic paraplegia 29 skos:exactMatch mesh:C536863 semapv:UnspecifiedMatching MONDO:0012335 obesity due to pro-opiomelanocortin deficiency skos:exactMatch MEDGEN:341863 semapv:UnspecifiedMatching MONDO:0012335 obesity due to pro-opiomelanocortin deficiency skos:exactMatch OMIM:609734 obesity, early-onset, with adrenal insufficiency and red hair semapv:UnspecifiedMatching MONDO:0012335 obesity due to pro-opiomelanocortin deficiency skos:exactMatch Orphanet:71526 Obesity due to pro-opiomelanocortin deficiency semapv:UnspecifiedMatching MONDO:0012335 obesity due to pro-opiomelanocortin deficiency skos:exactMatch SCTID:702949005 semapv:UnspecifiedMatching MONDO:0012335 obesity due to pro-opiomelanocortin deficiency skos:exactMatch UMLS:C1857854 semapv:UnspecifiedMatching MONDO:0012335 obesity due to pro-opiomelanocortin deficiency skos:exactMatch icd11.foundation:530374033 Obesity due to pro-opiomelanocortin deficiency semapv:UnspecifiedMatching MONDO:0012335 obesity due to pro-opiomelanocortin deficiency skos:exactMatch mesh:C565726 semapv:UnspecifiedMatching MONDO:0012336 cataract 22 multiple types skos:exactMatch DOID:0110268 cataract 22 multiple types semapv:UnspecifiedMatching MONDO:0012336 cataract 22 multiple types skos:exactMatch MEDGEN:341862 semapv:UnspecifiedMatching MONDO:0012336 cataract 22 multiple types skos:exactMatch OMIM:609741 cataract 22, multiple types semapv:UnspecifiedMatching MONDO:0012336 cataract 22 multiple types skos:exactMatch UMLS:C1857853 semapv:UnspecifiedMatching MONDO:0012336 cataract 22 multiple types skos:exactMatch mesh:C565725 semapv:UnspecifiedMatching MONDO:0012337 obsolete glaucoma 1, open angle, I skos:exactMatch OMIM:609745 glaucoma 1, open angle, 1 semapv:UnspecifiedMatching MONDO:0012337 obsolete glaucoma 1, open angle, I skos:exactMatch mesh:C565724 semapv:UnspecifiedMatching MONDO:0012338 epilepsy, idiopathic generalized, susceptibility to, 4 skos:exactMatch MEDGEN:387924 semapv:UnspecifiedMatching MONDO:0012338 epilepsy, idiopathic generalized, susceptibility to, 4 skos:exactMatch OMIM:609750 epilepsy, idiopathic generalized, susceptibility to, 4 semapv:UnspecifiedMatching MONDO:0012338 epilepsy, idiopathic generalized, susceptibility to, 4 skos:exactMatch UMLS:C1857851 semapv:UnspecifiedMatching MONDO:0012339 celiac disease, susceptibility to, 4 skos:exactMatch MEDGEN:346679 semapv:UnspecifiedMatching MONDO:0012339 celiac disease, susceptibility to, 4 skos:exactMatch OMIM:609753 celiac disease, susceptibility to, 4 semapv:UnspecifiedMatching MONDO:0012339 celiac disease, susceptibility to, 4 skos:exactMatch UMLS:C1857847 semapv:UnspecifiedMatching MONDO:0012340 celiac disease, susceptibility to, 2 skos:exactMatch MEDGEN:347564 semapv:UnspecifiedMatching MONDO:0012340 celiac disease, susceptibility to, 2 skos:exactMatch OMIM:609754 celiac disease, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0012340 celiac disease, susceptibility to, 2 skos:exactMatch UMLS:C1857846 semapv:UnspecifiedMatching MONDO:0012341 celiac disease, susceptibility to, 3 skos:exactMatch MEDGEN:347563 semapv:UnspecifiedMatching MONDO:0012341 celiac disease, susceptibility to, 3 skos:exactMatch OMIM:609755 celiac disease, susceptibility to, 3 semapv:UnspecifiedMatching MONDO:0012341 celiac disease, susceptibility to, 3 skos:exactMatch UMLS:C1857845 semapv:UnspecifiedMatching MONDO:0012342 7q11.23 microduplication syndrome skos:exactMatch DOID:0080926 7q11.23 duplication syndrome semapv:UnspecifiedMatching MONDO:0012342 7q11.23 microduplication syndrome skos:exactMatch MEDGEN:347562 semapv:UnspecifiedMatching MONDO:0012342 7q11.23 microduplication syndrome skos:exactMatch OMIM:609757 williams-beuren region duplication syndrome semapv:UnspecifiedMatching MONDO:0012342 7q11.23 microduplication syndrome skos:exactMatch Orphanet:96121 7q11.23 microduplication syndrome semapv:UnspecifiedMatching MONDO:0012342 7q11.23 microduplication syndrome skos:exactMatch SCTID:726707004 semapv:UnspecifiedMatching MONDO:0012342 7q11.23 microduplication syndrome skos:exactMatch UMLS:C1857844 semapv:UnspecifiedMatching MONDO:0012342 7q11.23 microduplication syndrome skos:exactMatch mesh:C565723 semapv:UnspecifiedMatching MONDO:0012343 aortic aneurysm, familial abdominal, 2 skos:exactMatch MEDGEN:339960 semapv:UnspecifiedMatching MONDO:0012343 aortic aneurysm, familial abdominal, 2 skos:exactMatch OMIM:609782 aortic aneurysm, familial abdominal, 2 semapv:UnspecifiedMatching MONDO:0012343 aortic aneurysm, familial abdominal, 2 skos:exactMatch UMLS:C1853364 semapv:UnspecifiedMatching MONDO:0012343 aortic aneurysm, familial abdominal, 2 skos:exactMatch mesh:C565229 semapv:UnspecifiedMatching MONDO:0012344 Alzheimer disease 11 skos:exactMatch DOID:0110044 Alzheimer's disease 11 semapv:UnspecifiedMatching MONDO:0012344 Alzheimer disease 11 skos:exactMatch MEDGEN:377886 semapv:UnspecifiedMatching MONDO:0012344 Alzheimer disease 11 skos:exactMatch OMIM:609790 alzheimer disease 11 semapv:UnspecifiedMatching MONDO:0012344 Alzheimer disease 11 skos:exactMatch UMLS:C1853360 semapv:UnspecifiedMatching MONDO:0012344 Alzheimer disease 11 skos:exactMatch mesh:C565228 semapv:UnspecifiedMatching MONDO:0012345 acral peeling skin syndrome skos:exactMatch DOID:0070521 peeling skin syndrome 2 semapv:UnspecifiedMatching MONDO:0012345 acral peeling skin syndrome skos:exactMatch MEDGEN:342862 semapv:UnspecifiedMatching MONDO:0012345 acral peeling skin syndrome skos:exactMatch OMIM:609796 peeling skin syndrome 2 semapv:UnspecifiedMatching MONDO:0012345 acral peeling skin syndrome skos:exactMatch Orphanet:263534 Acral peeling skin syndrome semapv:UnspecifiedMatching MONDO:0012345 acral peeling skin syndrome skos:exactMatch SCTID:709416009 semapv:UnspecifiedMatching MONDO:0012345 acral peeling skin syndrome skos:exactMatch UMLS:C1853354 semapv:UnspecifiedMatching MONDO:0012345 acral peeling skin syndrome skos:exactMatch mesh:C536316 semapv:UnspecifiedMatching MONDO:0012346 generalized epilepsy with febrile seizures plus, type 4 skos:exactMatch DOID:0111293 generalized epilepsy with febrile seizures plus 4 semapv:UnspecifiedMatching MONDO:0012346 generalized epilepsy with febrile seizures plus, type 4 skos:exactMatch MEDGEN:342858 semapv:UnspecifiedMatching MONDO:0012346 generalized epilepsy with febrile seizures plus, type 4 skos:exactMatch OMIM:609800 generalized epilepsy with febrile seizures plus, type 4 semapv:UnspecifiedMatching MONDO:0012346 generalized epilepsy with febrile seizures plus, type 4 skos:exactMatch UMLS:C1853345 semapv:UnspecifiedMatching MONDO:0012346 generalized epilepsy with febrile seizures plus, type 4 skos:exactMatch mesh:C565227 semapv:UnspecifiedMatching MONDO:0012347 hamartoma, Precalcaneal congenital fibrolipomatous skos:exactMatch MEDGEN:342846 semapv:UnspecifiedMatching MONDO:0012347 hamartoma, Precalcaneal congenital fibrolipomatous skos:exactMatch OMIM:609808 hamartoma, precalcaneal congenital fibrolipomatous semapv:UnspecifiedMatching MONDO:0012347 hamartoma, Precalcaneal congenital fibrolipomatous skos:exactMatch UMLS:C1853298 semapv:UnspecifiedMatching MONDO:0012347 hamartoma, Precalcaneal congenital fibrolipomatous skos:exactMatch mesh:C565226 semapv:UnspecifiedMatching MONDO:0012348 maturity-onset diabetes of the young type 8 skos:exactMatch DOID:0111105 maturity-onset diabetes of the young type 8 semapv:UnspecifiedMatching MONDO:0012348 maturity-onset diabetes of the young type 8 skos:exactMatch MEDGEN:342845 semapv:UnspecifiedMatching MONDO:0012348 maturity-onset diabetes of the young type 8 skos:exactMatch OMIM:609812 maturity-onset diabetes of the young, type 8, with exocrine dysfunction semapv:UnspecifiedMatching MONDO:0012348 maturity-onset diabetes of the young type 8 skos:exactMatch SCTID:609575003 semapv:UnspecifiedMatching MONDO:0012348 maturity-onset diabetes of the young type 8 skos:exactMatch UMLS:C1853297 semapv:UnspecifiedMatching MONDO:0012348 maturity-onset diabetes of the young type 8 skos:exactMatch mesh:C565225 semapv:UnspecifiedMatching MONDO:0012349 spondylocostal dysostosis 3, autosomal recessive skos:exactMatch DOID:0112361 spondylocostal dysostosis 3 semapv:UnspecifiedMatching MONDO:0012349 spondylocostal dysostosis 3, autosomal recessive skos:exactMatch MEDGEN:377871 semapv:UnspecifiedMatching MONDO:0012349 spondylocostal dysostosis 3, autosomal recessive skos:exactMatch OMIM:609813 spondylocostal dysostosis 3, autosomal recessive semapv:UnspecifiedMatching MONDO:0012349 spondylocostal dysostosis 3, autosomal recessive skos:exactMatch UMLS:C1853296 semapv:UnspecifiedMatching MONDO:0012350 complement factor H deficiency skos:exactMatch MEDGEN:96024 semapv:UnspecifiedMatching MONDO:0012350 complement factor H deficiency skos:exactMatch OMIM:609814 complement factor h deficiency semapv:UnspecifiedMatching MONDO:0012350 complement factor H deficiency skos:exactMatch SCTID:234622003 semapv:UnspecifiedMatching MONDO:0012350 complement factor H deficiency skos:exactMatch UMLS:C0398777 semapv:UnspecifiedMatching MONDO:0012350 complement factor H deficiency skos:exactMatch mesh:C562875 semapv:UnspecifiedMatching MONDO:0012351 zygodactyly type 1 skos:exactMatch DOID:0111820 zygodactyly 1 semapv:UnspecifiedMatching MONDO:0012351 zygodactyly type 1 skos:exactMatch MEDGEN:377870 semapv:UnspecifiedMatching MONDO:0012351 zygodactyly type 1 skos:exactMatch OMIM:609815 zygodactyly 1 semapv:UnspecifiedMatching MONDO:0012351 zygodactyly type 1 skos:exactMatch Orphanet:295187 Zygodactyly type 1 semapv:UnspecifiedMatching MONDO:0012351 zygodactyly type 1 skos:exactMatch UMLS:C1853294 semapv:UnspecifiedMatching MONDO:0012351 zygodactyly type 1 skos:exactMatch icd11.foundation:1671375617 Zygodactyly type 1 semapv:UnspecifiedMatching MONDO:0012351 zygodactyly type 1 skos:exactMatch mesh:C565223 semapv:UnspecifiedMatching MONDO:0012352 vasculitis, lymphocytic, cutaneous small vessel skos:exactMatch MEDGEN:344012 semapv:UnspecifiedMatching MONDO:0012352 vasculitis, lymphocytic, cutaneous small vessel skos:exactMatch OMIM:609817 vasculitis, lymphocytic, cutaneous small vessel semapv:UnspecifiedMatching MONDO:0012352 vasculitis, lymphocytic, cutaneous small vessel skos:exactMatch UMLS:C1853293 semapv:UnspecifiedMatching MONDO:0012352 vasculitis, lymphocytic, cutaneous small vessel skos:exactMatch mesh:C565222 semapv:UnspecifiedMatching MONDO:0012353 erythrocytosis, familial, 3 skos:exactMatch DOID:0080338 familial erythrocytosis 3 semapv:UnspecifiedMatching MONDO:0012353 erythrocytosis, familial, 3 skos:exactMatch MEDGEN:377868 semapv:UnspecifiedMatching MONDO:0012353 erythrocytosis, familial, 3 skos:exactMatch OMIM:609820 erythrocytosis, familial, 3 semapv:UnspecifiedMatching MONDO:0012353 erythrocytosis, familial, 3 skos:exactMatch UMLS:C1853286 semapv:UnspecifiedMatching MONDO:0012353 erythrocytosis, familial, 3 skos:exactMatch mesh:C565221 semapv:UnspecifiedMatching MONDO:0012354 platelet-type bleeding disorder 8 skos:exactMatch DOID:0060692 platelet-type bleeding disorder 8 semapv:UnspecifiedMatching MONDO:0012354 platelet-type bleeding disorder 8 skos:exactMatch MEDGEN:344008 semapv:UnspecifiedMatching MONDO:0012354 platelet-type bleeding disorder 8 skos:exactMatch OMIM:609821 bleeding disorder, platelet-type, 8 semapv:UnspecifiedMatching MONDO:0012354 platelet-type bleeding disorder 8 skos:exactMatch Orphanet:36355 Bleeding disorder due to P2Y12 defect semapv:UnspecifiedMatching MONDO:0012354 platelet-type bleeding disorder 8 skos:exactMatch SCTID:725291001 semapv:UnspecifiedMatching MONDO:0012354 platelet-type bleeding disorder 8 skos:exactMatch UMLS:C1853278 semapv:UnspecifiedMatching MONDO:0012354 platelet-type bleeding disorder 8 skos:exactMatch mesh:C565220 semapv:UnspecifiedMatching MONDO:0012355 autosomal recessive nonsyndromic hearing loss 28 skos:exactMatch DOID:0110486 autosomal recessive nonsyndromic deafness 28 semapv:UnspecifiedMatching MONDO:0012355 autosomal recessive nonsyndromic hearing loss 28 skos:exactMatch MEDGEN:342839 semapv:UnspecifiedMatching MONDO:0012355 autosomal recessive nonsyndromic hearing loss 28 skos:exactMatch NCIT:C129023 Deafness, Autosomal Recessive 28 semapv:UnspecifiedMatching MONDO:0012355 autosomal recessive nonsyndromic hearing loss 28 skos:exactMatch OMIM:609823 deafness, autosomal recessive 28 semapv:UnspecifiedMatching MONDO:0012355 autosomal recessive nonsyndromic hearing loss 28 skos:exactMatch UMLS:C1853276 semapv:UnspecifiedMatching MONDO:0012355 autosomal recessive nonsyndromic hearing loss 28 skos:exactMatch mesh:C565218 semapv:UnspecifiedMatching MONDO:0012357 obsolete glaucoma 1, open angle, G skos:exactMatch OMIM:609887 glaucoma 1, open angle, g semapv:UnspecifiedMatching MONDO:0012357 obsolete glaucoma 1, open angle, G skos:exactMatch mesh:C563692 semapv:UnspecifiedMatching MONDO:0012358 leprosy, susceptibility to, 1 skos:exactMatch MEDGEN:332089 semapv:UnspecifiedMatching MONDO:0012358 leprosy, susceptibility to, 1 skos:exactMatch OMIM:609888 leprosy, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0012358 leprosy, susceptibility to, 1 skos:exactMatch UMLS:C1835932 semapv:UnspecifiedMatching MONDO:0012359 combined immunodeficiency due to partial RAG1 deficiency skos:exactMatch MEDGEN:372161 semapv:UnspecifiedMatching MONDO:0012359 combined immunodeficiency due to partial RAG1 deficiency skos:exactMatch OMIM:609889 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity semapv:UnspecifiedMatching MONDO:0012359 combined immunodeficiency due to partial RAG1 deficiency skos:exactMatch Orphanet:231154 Combined immunodeficiency due to partial RAG1 deficiency semapv:UnspecifiedMatching MONDO:0012359 combined immunodeficiency due to partial RAG1 deficiency skos:exactMatch SCTID:725290000 semapv:UnspecifiedMatching MONDO:0012359 combined immunodeficiency due to partial RAG1 deficiency skos:exactMatch UMLS:C1835931 semapv:UnspecifiedMatching MONDO:0012359 combined immunodeficiency due to partial RAG1 deficiency skos:exactMatch mesh:C563691 semapv:UnspecifiedMatching MONDO:0012360 congenital nongoitrous hypothyroidism 3 skos:exactMatch DOID:0070127 congenital nongoitrous hypothyroidism 3 semapv:UnspecifiedMatching MONDO:0012360 congenital nongoitrous hypothyroidism 3 skos:exactMatch MEDGEN:424853 semapv:UnspecifiedMatching MONDO:0012360 congenital nongoitrous hypothyroidism 3 skos:exactMatch OMIM:609893 hypothyroidism, congenital, nongoitrous, 3 semapv:UnspecifiedMatching MONDO:0012360 congenital nongoitrous hypothyroidism 3 skos:exactMatch UMLS:C2940785 semapv:UnspecifiedMatching MONDO:0012360 congenital nongoitrous hypothyroidism 3 skos:exactMatch mesh:C567935 semapv:UnspecifiedMatching MONDO:0012361 systemic lupus erythematosus, susceptibility to, 5 skos:exactMatch MEDGEN:322783 semapv:UnspecifiedMatching MONDO:0012361 systemic lupus erythematosus, susceptibility to, 5 skos:exactMatch OMIM:609903 systemic lupus erythematosus, susceptibility to, 5 semapv:UnspecifiedMatching MONDO:0012361 systemic lupus erythematosus, susceptibility to, 5 skos:exactMatch UMLS:C1835929 semapv:UnspecifiedMatching MONDO:0012362 dilated cardiomyopathy 1P skos:exactMatch DOID:0110439 dilated cardiomyopathy 1P semapv:UnspecifiedMatching MONDO:0012362 dilated cardiomyopathy 1P skos:exactMatch MEDGEN:322782 semapv:UnspecifiedMatching MONDO:0012362 dilated cardiomyopathy 1P skos:exactMatch OMIM:609909 cardiomyopathy, dilated, 1p semapv:UnspecifiedMatching MONDO:0012362 dilated cardiomyopathy 1P skos:exactMatch UMLS:C1835928 semapv:UnspecifiedMatching MONDO:0012362 dilated cardiomyopathy 1P skos:exactMatch mesh:C563690 semapv:UnspecifiedMatching MONDO:0012363 retinitis pigmentosa 32 skos:exactMatch DOID:0110355 retinitis pigmentosa 32 semapv:UnspecifiedMatching MONDO:0012363 retinitis pigmentosa 32 skos:exactMatch MEDGEN:322781 semapv:UnspecifiedMatching MONDO:0012363 retinitis pigmentosa 32 skos:exactMatch OMIM:609913 retinitis pigmentosa 32 semapv:UnspecifiedMatching MONDO:0012363 retinitis pigmentosa 32 skos:exactMatch UMLS:C1835927 semapv:UnspecifiedMatching MONDO:0012363 retinitis pigmentosa 32 skos:exactMatch mesh:C563689 semapv:UnspecifiedMatching MONDO:0012364 dilated cardiomyopathy 1Q skos:exactMatch DOID:0110442 dilated cardiomyopathy 1Q semapv:UnspecifiedMatching MONDO:0012364 dilated cardiomyopathy 1Q skos:exactMatch MEDGEN:332088 semapv:UnspecifiedMatching MONDO:0012364 dilated cardiomyopathy 1Q skos:exactMatch OMIM:609915 cardiomyopathy, dilated, 1q semapv:UnspecifiedMatching MONDO:0012364 dilated cardiomyopathy 1Q skos:exactMatch UMLS:C1835926 semapv:UnspecifiedMatching MONDO:0012364 dilated cardiomyopathy 1Q skos:exactMatch mesh:C563688 semapv:UnspecifiedMatching MONDO:0012365 gallbladder disease 2 skos:exactMatch MEDGEN:372160 semapv:UnspecifiedMatching MONDO:0012365 gallbladder disease 2 skos:exactMatch OMIM:609918 gallbladder disease 2 semapv:UnspecifiedMatching MONDO:0012365 gallbladder disease 2 skos:exactMatch UMLS:C1835925 semapv:UnspecifiedMatching MONDO:0012365 gallbladder disease 2 skos:exactMatch mesh:C563687 semapv:UnspecifiedMatching MONDO:0012366 gallbladder disease 3 skos:exactMatch MEDGEN:332087 semapv:UnspecifiedMatching MONDO:0012366 gallbladder disease 3 skos:exactMatch OMIM:609919 gallbladder disease 3 semapv:UnspecifiedMatching MONDO:0012366 gallbladder disease 3 skos:exactMatch UMLS:C1835924 semapv:UnspecifiedMatching MONDO:0012366 gallbladder disease 3 skos:exactMatch mesh:C563686 semapv:UnspecifiedMatching MONDO:0012367 retinitis pigmentosa 31 skos:exactMatch DOID:0110391 retinitis pigmentosa 31 semapv:UnspecifiedMatching MONDO:0012367 retinitis pigmentosa 31 skos:exactMatch MEDGEN:372159 semapv:UnspecifiedMatching MONDO:0012367 retinitis pigmentosa 31 skos:exactMatch OMIM:609923 retinitis pigmentosa 31 semapv:UnspecifiedMatching MONDO:0012367 retinitis pigmentosa 31 skos:exactMatch UMLS:C1835923 semapv:UnspecifiedMatching MONDO:0012367 retinitis pigmentosa 31 skos:exactMatch mesh:C563685 semapv:UnspecifiedMatching MONDO:0012368 aminoacylase 1 deficiency skos:exactMatch EFO:1001981 semapv:UnspecifiedMatching MONDO:0012368 aminoacylase 1 deficiency skos:exactMatch MEDGEN:324393 semapv:UnspecifiedMatching MONDO:0012368 aminoacylase 1 deficiency skos:exactMatch OMIM:609924 aminoacylase 1 deficiency semapv:UnspecifiedMatching MONDO:0012368 aminoacylase 1 deficiency skos:exactMatch Orphanet:137754 Aminoacylase 1 deficiency semapv:UnspecifiedMatching MONDO:0012368 aminoacylase 1 deficiency skos:exactMatch SCTID:709282004 semapv:UnspecifiedMatching MONDO:0012368 aminoacylase 1 deficiency skos:exactMatch UMLS:C1835922 semapv:UnspecifiedMatching MONDO:0012368 aminoacylase 1 deficiency skos:exactMatch mesh:C538246 semapv:UnspecifiedMatching MONDO:0012369 systemic lupus erythematosus, susceptibility to, 6 skos:exactMatch MEDGEN:332086 semapv:UnspecifiedMatching MONDO:0012369 systemic lupus erythematosus, susceptibility to, 6 skos:exactMatch OMIM:609939 systemic lupus erythematosus, susceptibility to, 6 semapv:UnspecifiedMatching MONDO:0012369 systemic lupus erythematosus, susceptibility to, 6 skos:exactMatch UMLS:C1835919 semapv:UnspecifiedMatching MONDO:0012370 autosomal recessive nonsyndromic hearing loss 51 skos:exactMatch DOID:0110508 autosomal recessive nonsyndromic deafness 51 semapv:UnspecifiedMatching MONDO:0012370 autosomal recessive nonsyndromic hearing loss 51 skos:exactMatch MEDGEN:355880 semapv:UnspecifiedMatching MONDO:0012370 autosomal recessive nonsyndromic hearing loss 51 skos:exactMatch OMIM:609941 deafness, autosomal recessive 51 semapv:UnspecifiedMatching MONDO:0012370 autosomal recessive nonsyndromic hearing loss 51 skos:exactMatch UMLS:C1864968 semapv:UnspecifiedMatching MONDO:0012370 autosomal recessive nonsyndromic hearing loss 51 skos:exactMatch mesh:C538202 semapv:UnspecifiedMatching MONDO:0012371 Noonan syndrome 3 skos:exactMatch DOID:0060581 Noonan syndrome 3 semapv:UnspecifiedMatching MONDO:0012371 Noonan syndrome 3 skos:exactMatch MEDGEN:349931 semapv:UnspecifiedMatching MONDO:0012371 Noonan syndrome 3 skos:exactMatch NCIT:C176931 Noonan Syndrome 3 semapv:UnspecifiedMatching MONDO:0012371 Noonan syndrome 3 skos:exactMatch OMIM:609942 noonan syndrome 3 semapv:UnspecifiedMatching MONDO:0012371 Noonan syndrome 3 skos:exactMatch UMLS:C1860991 semapv:UnspecifiedMatching MONDO:0012371 Noonan syndrome 3 skos:exactMatch mesh:C537847 semapv:UnspecifiedMatching MONDO:0012373 ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features skos:exactMatch MEDGEN:355878 semapv:UnspecifiedMatching MONDO:0012373 ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features skos:exactMatch OMIM:609944 ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features semapv:UnspecifiedMatching MONDO:0012373 ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features skos:exactMatch UMLS:C1864966 semapv:UnspecifiedMatching MONDO:0012373 ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features skos:exactMatch mesh:C536182 semapv:UnspecifiedMatching MONDO:0012374 brachyphalangy, polydactyly, and tibial aplasia/hypoplasia skos:exactMatch MEDGEN:355340 semapv:UnspecifiedMatching MONDO:0012374 brachyphalangy, polydactyly, and tibial aplasia/hypoplasia skos:exactMatch OMIM:609945 brachyphalangy, polydactyly, and tibial aplasia/hypoplasia semapv:UnspecifiedMatching MONDO:0012374 brachyphalangy, polydactyly, and tibial aplasia/hypoplasia skos:exactMatch UMLS:C1864965 semapv:UnspecifiedMatching MONDO:0012374 brachyphalangy, polydactyly, and tibial aplasia/hypoplasia skos:exactMatch mesh:C537100 semapv:UnspecifiedMatching MONDO:0012375 autosomal recessive nonsyndromic hearing loss 47 skos:exactMatch DOID:0110504 autosomal recessive nonsyndromic deafness 47 semapv:UnspecifiedMatching MONDO:0012375 autosomal recessive nonsyndromic hearing loss 47 skos:exactMatch MEDGEN:355339 semapv:UnspecifiedMatching MONDO:0012375 autosomal recessive nonsyndromic hearing loss 47 skos:exactMatch OMIM:609946 deafness, autosomal recessive 47 semapv:UnspecifiedMatching MONDO:0012375 autosomal recessive nonsyndromic hearing loss 47 skos:exactMatch UMLS:C1864964 semapv:UnspecifiedMatching MONDO:0012375 autosomal recessive nonsyndromic hearing loss 47 skos:exactMatch mesh:C566498 semapv:UnspecifiedMatching MONDO:0012376 autosomal recessive nonsyndromic hearing loss 55 skos:exactMatch DOID:0110510 autosomal recessive nonsyndromic deafness 55 semapv:UnspecifiedMatching MONDO:0012376 autosomal recessive nonsyndromic hearing loss 55 skos:exactMatch MEDGEN:355338 semapv:UnspecifiedMatching MONDO:0012376 autosomal recessive nonsyndromic hearing loss 55 skos:exactMatch OMIM:609952 deafness, autosomal recessive 55 semapv:UnspecifiedMatching MONDO:0012376 autosomal recessive nonsyndromic hearing loss 55 skos:exactMatch UMLS:C1864962 semapv:UnspecifiedMatching MONDO:0012376 autosomal recessive nonsyndromic hearing loss 55 skos:exactMatch mesh:C538203 semapv:UnspecifiedMatching MONDO:0012377 asperger syndrome, susceptibility to, 4 skos:exactMatch MEDGEN:400650 semapv:UnspecifiedMatching MONDO:0012377 asperger syndrome, susceptibility to, 4 skos:exactMatch OMIM:609954 asperger syndrome, susceptibility to, 4 semapv:UnspecifiedMatching MONDO:0012377 asperger syndrome, susceptibility to, 4 skos:exactMatch UMLS:C1864961 semapv:UnspecifiedMatching MONDO:0012378 fibromatosis, gingival, 3 skos:exactMatch MEDGEN:351261 semapv:UnspecifiedMatching MONDO:0012378 fibromatosis, gingival, 3 skos:exactMatch OMIM:609955 fibromatosis, gingival, 3 semapv:UnspecifiedMatching MONDO:0012378 fibromatosis, gingival, 3 skos:exactMatch UMLS:C1864960 semapv:UnspecifiedMatching MONDO:0012378 fibromatosis, gingival, 3 skos:exactMatch mesh:C537928 semapv:UnspecifiedMatching MONDO:0012379 asthma-related traits, susceptibility to, 3 skos:exactMatch MEDGEN:355337 semapv:UnspecifiedMatching MONDO:0012379 asthma-related traits, susceptibility to, 3 skos:exactMatch OMIM:609958 asthma-related traits, susceptibility to, 3 semapv:UnspecifiedMatching MONDO:0012379 asthma-related traits, susceptibility to, 3 skos:exactMatch UMLS:C1864959 semapv:UnspecifiedMatching MONDO:0012380 autosomal dominant nonsyndromic hearing loss 53 skos:exactMatch DOID:0110579 autosomal dominant nonsyndromic deafness 53 semapv:UnspecifiedMatching MONDO:0012380 autosomal dominant nonsyndromic hearing loss 53 skos:exactMatch MEDGEN:355336 semapv:UnspecifiedMatching MONDO:0012380 autosomal dominant nonsyndromic hearing loss 53 skos:exactMatch OMIM:609965 deafness, autosomal dominant 53 semapv:UnspecifiedMatching MONDO:0012380 autosomal dominant nonsyndromic hearing loss 53 skos:exactMatch UMLS:C1864957 semapv:UnspecifiedMatching MONDO:0012380 autosomal dominant nonsyndromic hearing loss 53 skos:exactMatch mesh:C566495 semapv:UnspecifiedMatching MONDO:0012381 hyperinsulinism due to INSR deficiency skos:exactMatch DOID:0070220 familial hyperinsulinemic hypoglycemia 5 semapv:UnspecifiedMatching MONDO:0012381 hyperinsulinism due to INSR deficiency skos:exactMatch MEDGEN:355335 semapv:UnspecifiedMatching MONDO:0012381 hyperinsulinism due to INSR deficiency skos:exactMatch OMIM:609968 hyperinsulinemic hypoglycemia, familial, 5 semapv:UnspecifiedMatching MONDO:0012381 hyperinsulinism due to INSR deficiency skos:exactMatch Orphanet:263458 Hyperinsulinism due to INSR deficiency semapv:UnspecifiedMatching MONDO:0012381 hyperinsulinism due to INSR deficiency skos:exactMatch SCTID:721235003 semapv:UnspecifiedMatching MONDO:0012381 hyperinsulinism due to INSR deficiency skos:exactMatch UMLS:C1864952 semapv:UnspecifiedMatching MONDO:0012381 hyperinsulinism due to INSR deficiency skos:exactMatch mesh:C566494 semapv:UnspecifiedMatching MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 skos:exactMatch DOID:0070215 familial hyperinsulinemic hypoglycemia 4 semapv:UnspecifiedMatching MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 skos:exactMatch MEDGEN:400646 semapv:UnspecifiedMatching MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 skos:exactMatch OMIM:609975 hyperinsulinemic hypoglycemia, familial, 4 semapv:UnspecifiedMatching MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 skos:exactMatch Orphanet:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 skos:exactMatch SCTID:721236002 semapv:UnspecifiedMatching MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 skos:exactMatch UMLS:C1864948 semapv:UnspecifiedMatching MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 skos:exactMatch mesh:C566493 semapv:UnspecifiedMatching MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency skos:exactMatch DOID:0111967 immunodeficiency 54 semapv:UnspecifiedMatching MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency skos:exactMatch MEDGEN:351256 semapv:UnspecifiedMatching MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency skos:exactMatch NCIT:C123729 Natural Killer Cell and Glucocorticoid Deficiency with DNA Repair Defect semapv:UnspecifiedMatching MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency skos:exactMatch OMIM:609981 immunodeficiency 54 semapv:UnspecifiedMatching MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency skos:exactMatch Orphanet:75391 Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency semapv:UnspecifiedMatching MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency skos:exactMatch SCTID:724275005 semapv:UnspecifiedMatching MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency skos:exactMatch UMLS:C1864947 semapv:UnspecifiedMatching MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency skos:exactMatch mesh:C566492 semapv:UnspecifiedMatching MONDO:0012384 panic disorder 3 skos:exactMatch MEDGEN:400645 semapv:UnspecifiedMatching MONDO:0012384 panic disorder 3 skos:exactMatch OMIM:609985 panic disorder 3 semapv:UnspecifiedMatching MONDO:0012384 panic disorder 3 skos:exactMatch UMLS:C1864946 semapv:UnspecifiedMatching MONDO:0012385 metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands skos:exactMatch MEDGEN:355877 semapv:UnspecifiedMatching MONDO:0012385 metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands skos:exactMatch OMIM:609989 metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands semapv:UnspecifiedMatching MONDO:0012385 metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands skos:exactMatch UMLS:C1864944 semapv:UnspecifiedMatching MONDO:0012385 metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands skos:exactMatch mesh:C537354 semapv:UnspecifiedMatching MONDO:0012386 trichoscyphodysplasia skos:exactMatch MEDGEN:355876 semapv:UnspecifiedMatching MONDO:0012386 trichoscyphodysplasia skos:exactMatch OMIM:609990 trichoscyphodysplasia semapv:UnspecifiedMatching MONDO:0012386 trichoscyphodysplasia skos:exactMatch UMLS:C1864943 semapv:UnspecifiedMatching MONDO:0012386 trichoscyphodysplasia skos:exactMatch mesh:C536557 semapv:UnspecifiedMatching MONDO:0012387 osteosclerosis-ichthyosis-premature ovarian failure syndrome skos:exactMatch MEDGEN:355875 semapv:UnspecifiedMatching MONDO:0012387 osteosclerosis-ichthyosis-premature ovarian failure syndrome skos:exactMatch OMIM:609993 osteosclerosis with ichthyosis and premature ovarian failure semapv:UnspecifiedMatching MONDO:0012387 osteosclerosis-ichthyosis-premature ovarian failure syndrome skos:exactMatch Orphanet:75325 Osteosclerosis-ichthyosis-premature ovarian failure syndrome semapv:UnspecifiedMatching MONDO:0012387 osteosclerosis-ichthyosis-premature ovarian failure syndrome skos:exactMatch SCTID:722114007 semapv:UnspecifiedMatching MONDO:0012387 osteosclerosis-ichthyosis-premature ovarian failure syndrome skos:exactMatch UMLS:C1864942 semapv:UnspecifiedMatching MONDO:0012387 osteosclerosis-ichthyosis-premature ovarian failure syndrome skos:exactMatch mesh:C536064 semapv:UnspecifiedMatching MONDO:0012388 myopia 11, autosomal dominant skos:exactMatch MEDGEN:355874 semapv:UnspecifiedMatching MONDO:0012388 myopia 11, autosomal dominant skos:exactMatch OMIM:609994 myopia 11, autosomal dominant semapv:UnspecifiedMatching MONDO:0012388 myopia 11, autosomal dominant skos:exactMatch UMLS:C1864941 semapv:UnspecifiedMatching MONDO:0012388 myopia 11, autosomal dominant skos:exactMatch mesh:C566490 semapv:UnspecifiedMatching MONDO:0012389 myopia 12, autosomal dominant skos:exactMatch MEDGEN:355332 semapv:UnspecifiedMatching MONDO:0012389 myopia 12, autosomal dominant skos:exactMatch OMIM:609995 myopia 12, autosomal dominant semapv:UnspecifiedMatching MONDO:0012389 myopia 12, autosomal dominant skos:exactMatch UMLS:C1864940 semapv:UnspecifiedMatching MONDO:0012389 myopia 12, autosomal dominant skos:exactMatch mesh:C566489 semapv:UnspecifiedMatching MONDO:0012390 arthrogryposis multiplex with deafness, inguinal hernias, and early death skos:exactMatch MEDGEN:400644 semapv:UnspecifiedMatching MONDO:0012390 arthrogryposis multiplex with deafness, inguinal hernias, and early death skos:exactMatch OMIM:610001 arthrogryposis multiplex with deafness, inguinal hernias, and early death semapv:UnspecifiedMatching MONDO:0012390 arthrogryposis multiplex with deafness, inguinal hernias, and early death skos:exactMatch UMLS:C1864939 semapv:UnspecifiedMatching MONDO:0012390 arthrogryposis multiplex with deafness, inguinal hernias, and early death skos:exactMatch mesh:C535381 semapv:UnspecifiedMatching MONDO:0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant skos:broadMatch ICD10CM:G40.3 Generalized idiopathic epilepsy and epileptic syndromes semapv:UnspecifiedMatching MONDO:0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant skos:exactMatch DOID:0110724 neuronal ceroid lipofuscinosis 8 northern epilepsy variant semapv:UnspecifiedMatching MONDO:0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant skos:exactMatch MEDGEN:355328 semapv:UnspecifiedMatching MONDO:0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant skos:exactMatch OMIM:610003 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant semapv:UnspecifiedMatching MONDO:0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant skos:exactMatch Orphanet:1947 Northern epilepsy semapv:UnspecifiedMatching MONDO:0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant skos:exactMatch Orphanet:530298 Progressive myoclonic epilepsy with neuroserpin inclusion bodies semapv:UnspecifiedMatching MONDO:0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant skos:exactMatch UMLS:C1864923 semapv:UnspecifiedMatching MONDO:0012392 2-methylbutyryl-CoA dehydrogenase deficiency skos:exactMatch MEDGEN:355324 semapv:UnspecifiedMatching MONDO:0012392 2-methylbutyryl-CoA dehydrogenase deficiency skos:exactMatch NCIT:C98863 Butyryl-CoA Dehydrogenase Deficiency semapv:UnspecifiedMatching MONDO:0012392 2-methylbutyryl-CoA dehydrogenase deficiency skos:exactMatch OMIM:610006 2-methylbutyryl-coa dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0012392 2-methylbutyryl-CoA dehydrogenase deficiency skos:exactMatch Orphanet:79157 2-methylbutyryl-CoA dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0012392 2-methylbutyryl-CoA dehydrogenase deficiency skos:exactMatch UMLS:C1864912 semapv:UnspecifiedMatching MONDO:0012392 2-methylbutyryl-CoA dehydrogenase deficiency skos:exactMatch mesh:C566487 semapv:UnspecifiedMatching MONDO:0012393 congenital brain dysgenesis due to glutamine synthetase deficiency skos:exactMatch DOID:0070544 congenital glutamine deficiency semapv:UnspecifiedMatching MONDO:0012393 congenital brain dysgenesis due to glutamine synthetase deficiency skos:exactMatch MEDGEN:400638 semapv:UnspecifiedMatching MONDO:0012393 congenital brain dysgenesis due to glutamine synthetase deficiency skos:exactMatch OMIM:610015 glutamine deficiency, congenital semapv:UnspecifiedMatching MONDO:0012393 congenital brain dysgenesis due to glutamine synthetase deficiency skos:exactMatch Orphanet:71278 Congenital brain dysgenesis due to glutamine synthetase deficiency semapv:UnspecifiedMatching MONDO:0012393 congenital brain dysgenesis due to glutamine synthetase deficiency skos:exactMatch UMLS:C1864910 semapv:UnspecifiedMatching MONDO:0012393 congenital brain dysgenesis due to glutamine synthetase deficiency skos:exactMatch icd11.foundation:238162640 Congenital brain dysgenesis due to glutamine synthetase deficiency semapv:UnspecifiedMatching MONDO:0012393 congenital brain dysgenesis due to glutamine synthetase deficiency skos:exactMatch mesh:C536832 semapv:UnspecifiedMatching MONDO:0012394 multiple synostoses syndrome 2 skos:exactMatch DOID:0081318 multiple synostoses syndrome 2 semapv:UnspecifiedMatching MONDO:0012394 multiple synostoses syndrome 2 skos:exactMatch MEDGEN:331348 semapv:UnspecifiedMatching MONDO:0012394 multiple synostoses syndrome 2 skos:exactMatch OMIM:610017 multiple synostoses syndrome 2 semapv:UnspecifiedMatching MONDO:0012394 multiple synostoses syndrome 2 skos:exactMatch UMLS:C1832708 semapv:UnspecifiedMatching MONDO:0012394 multiple synostoses syndrome 2 skos:exactMatch mesh:C537380 semapv:UnspecifiedMatching MONDO:0012395 cataract 18 skos:exactMatch DOID:0110238 cataract 18 semapv:UnspecifiedMatching MONDO:0012395 cataract 18 skos:exactMatch MEDGEN:351249 semapv:UnspecifiedMatching MONDO:0012395 cataract 18 skos:exactMatch OMIM:610019 cataract 18 semapv:UnspecifiedMatching MONDO:0012395 cataract 18 skos:exactMatch UMLS:C1864908 semapv:UnspecifiedMatching MONDO:0012395 cataract 18 skos:exactMatch mesh:C535337 semapv:UnspecifiedMatching MONDO:0012396 exercise-induced hyperinsulinism skos:exactMatch DOID:0070214 familial hyperinsulinemic hypoglycemia 7 semapv:UnspecifiedMatching MONDO:0012396 exercise-induced hyperinsulinism skos:exactMatch MEDGEN:351246 semapv:UnspecifiedMatching MONDO:0012396 exercise-induced hyperinsulinism skos:exactMatch NCIT:C131839 Monocarboxylate Transporter 1 Hyperinsulinism semapv:UnspecifiedMatching MONDO:0012396 exercise-induced hyperinsulinism skos:exactMatch OMIM:610021 hyperinsulinemic hypoglycemia, familial, 7 semapv:UnspecifiedMatching MONDO:0012396 exercise-induced hyperinsulinism skos:exactMatch Orphanet:165991 Exercise-induced hyperinsulinism semapv:UnspecifiedMatching MONDO:0012396 exercise-induced hyperinsulinism skos:exactMatch SCTID:715830008 semapv:UnspecifiedMatching MONDO:0012396 exercise-induced hyperinsulinism skos:exactMatch UMLS:C1864902 semapv:UnspecifiedMatching MONDO:0012396 exercise-induced hyperinsulinism skos:exactMatch icd11.foundation:999935139 Exercise-induced hyperinsulinism semapv:UnspecifiedMatching MONDO:0012396 exercise-induced hyperinsulinism skos:exactMatch mesh:C538376 semapv:UnspecifiedMatching MONDO:0012397 brachydactyly, coloboma, and anterior segment dysgenesis skos:exactMatch MEDGEN:355321 semapv:UnspecifiedMatching MONDO:0012397 brachydactyly, coloboma, and anterior segment dysgenesis skos:exactMatch OMIM:610023 brachydactyly, coloboma, and anterior segment dysgenesis semapv:UnspecifiedMatching MONDO:0012397 brachydactyly, coloboma, and anterior segment dysgenesis skos:exactMatch UMLS:C1864901 semapv:UnspecifiedMatching MONDO:0012397 brachydactyly, coloboma, and anterior segment dysgenesis skos:exactMatch mesh:C566484 semapv:UnspecifiedMatching MONDO:0012398 achromatopsia 6 skos:exactMatch DOID:0081025 retinal cone dystrophy 3A semapv:UnspecifiedMatching MONDO:0012398 achromatopsia 6 skos:exactMatch OMIM:610024 achromatopsia 6 semapv:UnspecifiedMatching MONDO:0012398 achromatopsia 6 skos:exactMatch mesh:C566483 semapv:UnspecifiedMatching MONDO:0012399 complex cortical dysplasia with other brain malformations 7 skos:exactMatch DOID:0090132 complex cortical dysplasia with other brain malformations 7 semapv:UnspecifiedMatching MONDO:0012399 complex cortical dysplasia with other brain malformations 7 skos:exactMatch MEDGEN:765150 semapv:UnspecifiedMatching MONDO:0012399 complex cortical dysplasia with other brain malformations 7 skos:exactMatch OMIM:610031 cortical dysplasia, complex, with other brain malformations 7 semapv:UnspecifiedMatching MONDO:0012399 complex cortical dysplasia with other brain malformations 7 skos:exactMatch Orphanet:300573 Polymicrogyria due to TUBB2B mutation semapv:UnspecifiedMatching MONDO:0012399 complex cortical dysplasia with other brain malformations 7 skos:exactMatch UMLS:C3552236 semapv:UnspecifiedMatching MONDO:0012400 cortical dysplasia-focal epilepsy syndrome skos:exactMatch DOID:0090130 cortical dysplasia-focal epilepsy syndrome semapv:UnspecifiedMatching MONDO:0012400 cortical dysplasia-focal epilepsy syndrome skos:exactMatch MEDGEN:413258 semapv:UnspecifiedMatching MONDO:0012400 cortical dysplasia-focal epilepsy syndrome skos:exactMatch NCIT:C133743 Cortical Dysplasia-Focal Epilepsy Syndrome semapv:UnspecifiedMatching MONDO:0012400 cortical dysplasia-focal epilepsy syndrome skos:exactMatch OMIM:610042 pitt-hopkins-like syndrome 1 semapv:UnspecifiedMatching MONDO:0012400 cortical dysplasia-focal epilepsy syndrome skos:exactMatch Orphanet:163681 CNTNAP2-related developmental and epileptic encephalopathy semapv:UnspecifiedMatching MONDO:0012400 cortical dysplasia-focal epilepsy syndrome skos:exactMatch UMLS:C2750246 semapv:UnspecifiedMatching MONDO:0012400 cortical dysplasia-focal epilepsy syndrome skos:exactMatch mesh:C567657 semapv:UnspecifiedMatching MONDO:0012401 congenital stromal corneal dystrophy skos:exactMatch DOID:0060445 congenital stromal corneal dystrophy semapv:UnspecifiedMatching MONDO:0012401 congenital stromal corneal dystrophy skos:exactMatch MEDGEN:400601 semapv:UnspecifiedMatching MONDO:0012401 congenital stromal corneal dystrophy skos:exactMatch OMIM:610048 corneal dystrophy, congenital stromal semapv:UnspecifiedMatching MONDO:0012401 congenital stromal corneal dystrophy skos:exactMatch Orphanet:101068 Congenital stromal corneal dystrophy semapv:UnspecifiedMatching MONDO:0012401 congenital stromal corneal dystrophy skos:exactMatch SCTID:702359002 semapv:UnspecifiedMatching MONDO:0012401 congenital stromal corneal dystrophy skos:exactMatch UMLS:C1864738 semapv:UnspecifiedMatching MONDO:0012401 congenital stromal corneal dystrophy skos:exactMatch icd11.foundation:1796933876 Congenital stromal corneal dystrophy semapv:UnspecifiedMatching MONDO:0012401 congenital stromal corneal dystrophy skos:exactMatch mesh:C566452 semapv:UnspecifiedMatching MONDO:0012402 opioid dependence, susceptibility to, 1 skos:exactMatch MEDGEN:400600 semapv:UnspecifiedMatching MONDO:0012402 opioid dependence, susceptibility to, 1 skos:exactMatch OMIM:610064 opioid dependence, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0012402 opioid dependence, susceptibility to, 1 skos:exactMatch UMLS:C1864733 semapv:UnspecifiedMatching MONDO:0012403 systemic lupus erythematosus, susceptibility to, 7 skos:exactMatch MEDGEN:355279 semapv:UnspecifiedMatching MONDO:0012403 systemic lupus erythematosus, susceptibility to, 7 skos:exactMatch OMIM:610065 systemic lupus erythematosus, susceptibility to, 7 semapv:UnspecifiedMatching MONDO:0012403 systemic lupus erythematosus, susceptibility to, 7 skos:exactMatch UMLS:C1864732 semapv:UnspecifiedMatching MONDO:0012404 systemic lupus erythematosus, susceptibility to, 8 skos:exactMatch MEDGEN:355278 semapv:UnspecifiedMatching MONDO:0012404 systemic lupus erythematosus, susceptibility to, 8 skos:exactMatch OMIM:610066 systemic lupus erythematosus, susceptibility to, 8 semapv:UnspecifiedMatching MONDO:0012404 systemic lupus erythematosus, susceptibility to, 8 skos:exactMatch UMLS:C1864731 semapv:UnspecifiedMatching MONDO:0012405 polyposis syndrome, hereditary mixed, 2 skos:exactMatch DOID:0111686 hereditary mixed polyposis syndrome 2 semapv:UnspecifiedMatching MONDO:0012405 polyposis syndrome, hereditary mixed, 2 skos:exactMatch MEDGEN:350500 semapv:UnspecifiedMatching MONDO:0012405 polyposis syndrome, hereditary mixed, 2 skos:exactMatch OMIM:610069 polyposis syndrome, hereditary mixed, 2 semapv:UnspecifiedMatching MONDO:0012405 polyposis syndrome, hereditary mixed, 2 skos:exactMatch UMLS:C1864730 semapv:UnspecifiedMatching MONDO:0012405 polyposis syndrome, hereditary mixed, 2 skos:exactMatch mesh:C566451 semapv:UnspecifiedMatching MONDO:0012406 hyperparathyroidism 3 skos:exactMatch MEDGEN:355277 semapv:UnspecifiedMatching MONDO:0012406 hyperparathyroidism 3 skos:exactMatch OMIM:610071 hyperparathyroidism 3 semapv:UnspecifiedMatching MONDO:0012406 hyperparathyroidism 3 skos:exactMatch UMLS:C1864729 semapv:UnspecifiedMatching MONDO:0012406 hyperparathyroidism 3 skos:exactMatch mesh:C566450 semapv:UnspecifiedMatching MONDO:0012407 pyridoxal phosphate-responsive seizures skos:exactMatch DOID:0111329 pyridoxamine 5'-phosphate oxidase deficiency semapv:UnspecifiedMatching MONDO:0012407 pyridoxal phosphate-responsive seizures skos:exactMatch MEDGEN:350498 semapv:UnspecifiedMatching MONDO:0012407 pyridoxal phosphate-responsive seizures skos:exactMatch OMIM:610090 pyridoxamine 5-prime-phosphate oxidase deficiency semapv:UnspecifiedMatching MONDO:0012407 pyridoxal phosphate-responsive seizures skos:exactMatch Orphanet:79096 Pyridoxamine-5-phosphate deficiency-developmental and epileptic encephalopathy semapv:UnspecifiedMatching MONDO:0012407 pyridoxal phosphate-responsive seizures skos:exactMatch SCTID:724576005 semapv:UnspecifiedMatching MONDO:0012407 pyridoxal phosphate-responsive seizures skos:exactMatch UMLS:C1864723 semapv:UnspecifiedMatching MONDO:0012407 pyridoxal phosphate-responsive seizures skos:exactMatch icd11.foundation:1632334328 Pyridoxal dependent epilepsy semapv:UnspecifiedMatching MONDO:0012407 pyridoxal phosphate-responsive seizures skos:exactMatch icd11.foundation:604024463 Pyridoxal phosphate-responsive seizures semapv:UnspecifiedMatching MONDO:0012407 pyridoxal phosphate-responsive seizures skos:exactMatch mesh:C566449 semapv:UnspecifiedMatching MONDO:0012408 microphthalmia, isolated, with coloboma 3 skos:exactMatch MEDGEN:400598 semapv:UnspecifiedMatching MONDO:0012408 microphthalmia, isolated, with coloboma 3 skos:exactMatch OMIM:610092 microphthalmia/coloboma 3 semapv:UnspecifiedMatching MONDO:0012408 microphthalmia, isolated, with coloboma 3 skos:exactMatch UMLS:C1864721 semapv:UnspecifiedMatching MONDO:0012408 microphthalmia, isolated, with coloboma 3 skos:exactMatch mesh:C566447 semapv:UnspecifiedMatching MONDO:0012409 isolated microphthalmia 2 skos:exactMatch DOID:0060839 isolated microphthalmia 2 semapv:UnspecifiedMatching MONDO:0012409 isolated microphthalmia 2 skos:exactMatch MEDGEN:351204 semapv:UnspecifiedMatching MONDO:0012409 isolated microphthalmia 2 skos:exactMatch OMIM:610093 microphthalmia, isolated 2 semapv:UnspecifiedMatching MONDO:0012409 isolated microphthalmia 2 skos:exactMatch UMLS:C1864720 semapv:UnspecifiedMatching MONDO:0012409 isolated microphthalmia 2 skos:exactMatch mesh:C566446 semapv:UnspecifiedMatching MONDO:0012410 Finnish upper limb-onset distal myopathy skos:exactMatch DOID:0111189 distal myopathy 3 semapv:UnspecifiedMatching MONDO:0012410 Finnish upper limb-onset distal myopathy skos:exactMatch MEDGEN:400595 semapv:UnspecifiedMatching MONDO:0012410 Finnish upper limb-onset distal myopathy skos:exactMatch OMIM:610099 myopathy, distal, 3 semapv:UnspecifiedMatching MONDO:0012410 Finnish upper limb-onset distal myopathy skos:exactMatch Orphanet:399086 HNRNPA1-related adult-onset distal myopathy semapv:UnspecifiedMatching MONDO:0012410 Finnish upper limb-onset distal myopathy skos:exactMatch SCTID:763718009 semapv:UnspecifiedMatching MONDO:0012410 Finnish upper limb-onset distal myopathy skos:exactMatch UMLS:C1864706 semapv:UnspecifiedMatching MONDO:0012411 giant axonal neuropathy 2 skos:exactMatch DOID:0090069 giant axonal neuropathy 2 semapv:UnspecifiedMatching MONDO:0012411 giant axonal neuropathy 2 skos:exactMatch MEDGEN:400593 semapv:UnspecifiedMatching MONDO:0012411 giant axonal neuropathy 2 skos:exactMatch OMIM:610100 giant axonal neuropathy 2, autosomal dominant semapv:UnspecifiedMatching MONDO:0012411 giant axonal neuropathy 2 skos:exactMatch Orphanet:401964 Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons semapv:UnspecifiedMatching MONDO:0012411 giant axonal neuropathy 2 skos:exactMatch UMLS:C1864695 semapv:UnspecifiedMatching MONDO:0012412 complement component 7 deficiency skos:exactMatch DOID:0060300 complement component 7 deficiency semapv:UnspecifiedMatching MONDO:0012412 complement component 7 deficiency skos:exactMatch MEDGEN:355270 semapv:UnspecifiedMatching MONDO:0012412 complement component 7 deficiency skos:exactMatch OMIM:610102 complement component 7 deficiency semapv:UnspecifiedMatching MONDO:0012412 complement component 7 deficiency skos:exactMatch UMLS:C1864694 semapv:UnspecifiedMatching MONDO:0012412 complement component 7 deficiency skos:exactMatch mesh:C566443 semapv:UnspecifiedMatching MONDO:0012413 syndromic microphthalmia type 5 skos:exactMatch DOID:0111806 syndromic microphthalmia 5 semapv:UnspecifiedMatching MONDO:0012413 syndromic microphthalmia type 5 skos:exactMatch MEDGEN:350491 semapv:UnspecifiedMatching MONDO:0012413 syndromic microphthalmia type 5 skos:exactMatch OMIM:610125 microphthalmia, syndromic 5 semapv:UnspecifiedMatching MONDO:0012413 syndromic microphthalmia type 5 skos:exactMatch Orphanet:178364 Syndromic microphthalmia type 5 semapv:UnspecifiedMatching MONDO:0012413 syndromic microphthalmia type 5 skos:exactMatch SCTID:718761007 semapv:UnspecifiedMatching MONDO:0012413 syndromic microphthalmia type 5 skos:exactMatch UMLS:C1864690 semapv:UnspecifiedMatching MONDO:0012413 syndromic microphthalmia type 5 skos:exactMatch mesh:C566441 semapv:UnspecifiedMatching MONDO:0012414 neuronal ceroid lipofuscinosis 10 skos:exactMatch DOID:0110725 neuronal ceroid lipofuscinosis 10 semapv:UnspecifiedMatching MONDO:0012414 neuronal ceroid lipofuscinosis 10 skos:exactMatch MEDGEN:350481 semapv:UnspecifiedMatching MONDO:0012414 neuronal ceroid lipofuscinosis 10 skos:exactMatch OMIM:610127 ceroid lipofuscinosis, neuronal, 10 semapv:UnspecifiedMatching MONDO:0012414 neuronal ceroid lipofuscinosis 10 skos:exactMatch Orphanet:228337 CLN10 disease semapv:UnspecifiedMatching MONDO:0012414 neuronal ceroid lipofuscinosis 10 skos:exactMatch SCTID:720831008 semapv:UnspecifiedMatching MONDO:0012414 neuronal ceroid lipofuscinosis 10 skos:exactMatch UMLS:C1864669 semapv:UnspecifiedMatching MONDO:0012414 neuronal ceroid lipofuscinosis 10 skos:exactMatch mesh:C566438 semapv:UnspecifiedMatching MONDO:0012415 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 skos:exactMatch DOID:0111525 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 semapv:UnspecifiedMatching MONDO:0012415 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 skos:exactMatch MEDGEN:350480 semapv:UnspecifiedMatching MONDO:0012415 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 skos:exactMatch OMIM:610131 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 semapv:UnspecifiedMatching MONDO:0012415 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 skos:exactMatch UMLS:C1864668 semapv:UnspecifiedMatching MONDO:0012415 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 skos:exactMatch mesh:C566437 semapv:UnspecifiedMatching MONDO:0012416 Devriendt syndrome skos:exactMatch MEDGEN:341860 semapv:UnspecifiedMatching MONDO:0012416 Devriendt syndrome skos:exactMatch OMIM:610136 devriendt syndrome semapv:UnspecifiedMatching MONDO:0012416 Devriendt syndrome skos:exactMatch UMLS:C1857830 semapv:UnspecifiedMatching MONDO:0012416 Devriendt syndrome skos:exactMatch mesh:C535947 semapv:UnspecifiedMatching MONDO:0012417 heart-hand syndrome, Slovenian type skos:exactMatch MEDGEN:341859 semapv:UnspecifiedMatching MONDO:0012417 heart-hand syndrome, Slovenian type skos:exactMatch OMIM:610140 heart-hand syndrome, slovenian type semapv:UnspecifiedMatching MONDO:0012417 heart-hand syndrome, Slovenian type skos:exactMatch Orphanet:168796 Heart-hand syndrome, Slovenian type semapv:UnspecifiedMatching MONDO:0012417 heart-hand syndrome, Slovenian type skos:exactMatch SCTID:721014007 semapv:UnspecifiedMatching MONDO:0012417 heart-hand syndrome, Slovenian type skos:exactMatch UMLS:C1857829 semapv:UnspecifiedMatching MONDO:0012417 heart-hand syndrome, Slovenian type skos:exactMatch icd11.foundation:1814304618 Heart-hand syndrome, Slovenian type semapv:UnspecifiedMatching MONDO:0012417 heart-hand syndrome, Slovenian type skos:exactMatch mesh:C535852 semapv:UnspecifiedMatching MONDO:0012418 autosomal recessive nonsyndromic hearing loss 62 skos:exactMatch DOID:0110514 autosomal recessive nonsyndromic deafness 62 semapv:UnspecifiedMatching MONDO:0012418 autosomal recessive nonsyndromic hearing loss 62 skos:exactMatch MEDGEN:387916 semapv:UnspecifiedMatching MONDO:0012418 autosomal recessive nonsyndromic hearing loss 62 skos:exactMatch OMIM:610143 deafness, autosomal recessive 62 semapv:UnspecifiedMatching MONDO:0012418 autosomal recessive nonsyndromic hearing loss 62 skos:exactMatch UMLS:C1857820 semapv:UnspecifiedMatching MONDO:0012418 autosomal recessive nonsyndromic hearing loss 62 skos:exactMatch mesh:C565719 semapv:UnspecifiedMatching MONDO:0012419 age related macular degeneration 7 skos:exactMatch DOID:0110019 age related macular degeneration 7 semapv:UnspecifiedMatching MONDO:0012419 age related macular degeneration 7 skos:exactMatch MEDGEN:347554 semapv:UnspecifiedMatching MONDO:0012419 age related macular degeneration 7 skos:exactMatch OMIM:610149 macular degeneration, age-related, 7 semapv:UnspecifiedMatching MONDO:0012419 age related macular degeneration 7 skos:exactMatch UMLS:C1857813 semapv:UnspecifiedMatching MONDO:0012419 age related macular degeneration 7 skos:exactMatch mesh:C565718 semapv:UnspecifiedMatching MONDO:0012420 autosomal recessive nonsyndromic hearing loss 49 skos:exactMatch DOID:0110506 autosomal recessive nonsyndromic deafness 49 semapv:UnspecifiedMatching MONDO:0012420 autosomal recessive nonsyndromic hearing loss 49 skos:exactMatch MEDGEN:346670 semapv:UnspecifiedMatching MONDO:0012420 autosomal recessive nonsyndromic hearing loss 49 skos:exactMatch NCIT:C129024 Deafness, Autosomal Recessive 49 semapv:UnspecifiedMatching MONDO:0012420 autosomal recessive nonsyndromic hearing loss 49 skos:exactMatch OMIM:610153 deafness, autosomal recessive 49 semapv:UnspecifiedMatching MONDO:0012420 autosomal recessive nonsyndromic hearing loss 49 skos:exactMatch UMLS:C1857811 semapv:UnspecifiedMatching MONDO:0012420 autosomal recessive nonsyndromic hearing loss 49 skos:exactMatch mesh:C565717 semapv:UnspecifiedMatching MONDO:0012421 autosomal recessive nonsyndromic hearing loss 44 skos:exactMatch DOID:0110501 autosomal recessive nonsyndromic deafness 44 semapv:UnspecifiedMatching MONDO:0012421 autosomal recessive nonsyndromic hearing loss 44 skos:exactMatch MEDGEN:341854 semapv:UnspecifiedMatching MONDO:0012421 autosomal recessive nonsyndromic hearing loss 44 skos:exactMatch OMIM:610154 deafness, autosomal recessive 44 semapv:UnspecifiedMatching MONDO:0012421 autosomal recessive nonsyndromic hearing loss 44 skos:exactMatch UMLS:C1857809 semapv:UnspecifiedMatching MONDO:0012421 autosomal recessive nonsyndromic hearing loss 44 skos:exactMatch mesh:C565716 semapv:UnspecifiedMatching MONDO:0012422 type 1 diabetes mellitus 19 skos:exactMatch DOID:0110756 type 1 diabetes mellitus 19 semapv:UnspecifiedMatching MONDO:0012422 type 1 diabetes mellitus 19 skos:exactMatch MEDGEN:346669 semapv:UnspecifiedMatching MONDO:0012422 type 1 diabetes mellitus 19 skos:exactMatch OMIM:610155 type 1 diabetes mellitus 19 semapv:UnspecifiedMatching MONDO:0012422 type 1 diabetes mellitus 19 skos:exactMatch UMLS:C1857808 semapv:UnspecifiedMatching MONDO:0012422 type 1 diabetes mellitus 19 skos:exactMatch mesh:C565715 semapv:UnspecifiedMatching MONDO:0012423 MORM syndrome skos:exactMatch MEDGEN:341851 semapv:UnspecifiedMatching MONDO:0012423 MORM syndrome skos:exactMatch OMIM:610156 impaired intellectual development, truncal obesity, retinal dystrophy, and micropenis syndrome semapv:UnspecifiedMatching MONDO:0012423 MORM syndrome skos:exactMatch Orphanet:75858 MORM syndrome semapv:UnspecifiedMatching MONDO:0012423 MORM syndrome skos:exactMatch SCTID:715628009 semapv:UnspecifiedMatching MONDO:0012423 MORM syndrome skos:exactMatch UMLS:C1857802 semapv:UnspecifiedMatching MONDO:0012423 MORM syndrome skos:exactMatch icd11.foundation:1027545274 MORM syndrome semapv:UnspecifiedMatching MONDO:0012423 MORM syndrome skos:exactMatch mesh:C536984 semapv:UnspecifiedMatching MONDO:0012424 obsolete heat-shock RNA 1 skos:exactMatch OMIM:610157 heat-shock RNA 1 semapv:UnspecifiedMatching MONDO:0012425 corneal dystrophy, fuchs endothelial, 2 skos:exactMatch MEDGEN:347552 semapv:UnspecifiedMatching MONDO:0012425 corneal dystrophy, fuchs endothelial, 2 skos:exactMatch OMIM:610158 corneal dystrophy, fuchs endothelial, 2 semapv:UnspecifiedMatching MONDO:0012425 corneal dystrophy, fuchs endothelial, 2 skos:exactMatch UMLS:C1857800 semapv:UnspecifiedMatching MONDO:0012425 corneal dystrophy, fuchs endothelial, 2 skos:exactMatch mesh:C535479 semapv:UnspecifiedMatching MONDO:0012426 immunodeficiency 25 skos:exactMatch DOID:0060007 CD3zeta deficiency semapv:UnspecifiedMatching MONDO:0012426 immunodeficiency 25 skos:exactMatch DOID:0111942 immunodeficiency 25 semapv:UnspecifiedMatching MONDO:0012426 immunodeficiency 25 skos:exactMatch MEDGEN:346666 semapv:UnspecifiedMatching MONDO:0012426 immunodeficiency 25 skos:exactMatch OMIM:610163 immunodeficiency 25 semapv:UnspecifiedMatching MONDO:0012426 immunodeficiency 25 skos:exactMatch UMLS:C1857798 semapv:UnspecifiedMatching MONDO:0012426 immunodeficiency 25 skos:exactMatch mesh:C565712 semapv:UnspecifiedMatching MONDO:0012427 Loeys-Dietz syndrome 2 skos:exactMatch DOID:0070234 Loeys-Dietz syndrome 2 semapv:UnspecifiedMatching MONDO:0012427 Loeys-Dietz syndrome 2 skos:exactMatch MEDGEN:382398 semapv:UnspecifiedMatching MONDO:0012427 Loeys-Dietz syndrome 2 skos:exactMatch NCIT:C114768 Loeys-Dietz Syndrome Type 2 semapv:UnspecifiedMatching MONDO:0012427 Loeys-Dietz syndrome 2 skos:exactMatch OMIM:610168 loeys-dietz syndrome 2 semapv:UnspecifiedMatching MONDO:0012427 Loeys-Dietz syndrome 2 skos:exactMatch Orphanet:284973 Marfan syndrome type 2 semapv:UnspecifiedMatching MONDO:0012427 Loeys-Dietz syndrome 2 skos:exactMatch UMLS:C2674574 semapv:UnspecifiedMatching MONDO:0012427 Loeys-Dietz syndrome 2 skos:exactMatch mesh:C537783 semapv:UnspecifiedMatching MONDO:0012428 kyphoscoliosis 1 skos:exactMatch MEDGEN:347550 semapv:UnspecifiedMatching MONDO:0012428 kyphoscoliosis 1 skos:exactMatch OMIM:610170 kyphoscoliosis 1 semapv:UnspecifiedMatching MONDO:0012428 kyphoscoliosis 1 skos:exactMatch UMLS:C1857795 semapv:UnspecifiedMatching MONDO:0012428 kyphoscoliosis 1 skos:exactMatch mesh:C565711 semapv:UnspecifiedMatching MONDO:0012429 Aicardi-Goutieres syndrome 2 skos:exactMatch MEDGEN:483677 semapv:UnspecifiedMatching MONDO:0012429 Aicardi-Goutieres syndrome 2 skos:exactMatch NCIT:C165673 Aicardi-Goutieres Syndrome 2 semapv:UnspecifiedMatching MONDO:0012429 Aicardi-Goutieres syndrome 2 skos:exactMatch OMIM:610181 aicardi-goutieres syndrome 2 semapv:UnspecifiedMatching MONDO:0012429 Aicardi-Goutieres syndrome 2 skos:exactMatch UMLS:C3489724 semapv:UnspecifiedMatching MONDO:0012430 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 skos:exactMatch DOID:0070557 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2 semapv:UnspecifiedMatching MONDO:0012430 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 skos:exactMatch MEDGEN:412914 semapv:UnspecifiedMatching MONDO:0012430 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 skos:exactMatch OMIM:610185 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2 semapv:UnspecifiedMatching MONDO:0012430 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 skos:exactMatch UMLS:C2750234 semapv:UnspecifiedMatching MONDO:0012430 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 skos:exactMatch mesh:C567656 semapv:UnspecifiedMatching MONDO:0012431 diaphragmatic hernia 3 skos:exactMatch MEDGEN:347546 semapv:UnspecifiedMatching MONDO:0012431 diaphragmatic hernia 3 skos:exactMatch OMIM:610187 diaphragmatic hernia 3 semapv:UnspecifiedMatching MONDO:0012431 diaphragmatic hernia 3 skos:exactMatch UMLS:C1857781 semapv:UnspecifiedMatching MONDO:0012431 diaphragmatic hernia 3 skos:exactMatch mesh:C565710 semapv:UnspecifiedMatching MONDO:0012432 Joubert syndrome 5 skos:exactMatch DOID:0111000 Joubert syndrome 5 semapv:UnspecifiedMatching MONDO:0012432 Joubert syndrome 5 skos:exactMatch MEDGEN:347545 semapv:UnspecifiedMatching MONDO:0012432 Joubert syndrome 5 skos:exactMatch OMIM:610188 joubert syndrome 5 semapv:UnspecifiedMatching MONDO:0012432 Joubert syndrome 5 skos:exactMatch UMLS:C1857780 semapv:UnspecifiedMatching MONDO:0012432 Joubert syndrome 5 skos:exactMatch mesh:C537688 semapv:UnspecifiedMatching MONDO:0012433 Senior-Loken syndrome 6 skos:exactMatch MEDGEN:387907 semapv:UnspecifiedMatching MONDO:0012433 Senior-Loken syndrome 6 skos:exactMatch OMIM:610189 senior-loken syndrome 6 semapv:UnspecifiedMatching MONDO:0012433 Senior-Loken syndrome 6 skos:exactMatch UMLS:C1857779 semapv:UnspecifiedMatching MONDO:0012433 Senior-Loken syndrome 6 skos:exactMatch mesh:C565708 semapv:UnspecifiedMatching MONDO:0012434 arrhythmogenic right ventricular dysplasia 10 skos:exactMatch DOID:0110081 arrhythmogenic right ventricular dysplasia 10 semapv:UnspecifiedMatching MONDO:0012434 arrhythmogenic right ventricular dysplasia 10 skos:exactMatch MEDGEN:347543 semapv:UnspecifiedMatching MONDO:0012434 arrhythmogenic right ventricular dysplasia 10 skos:exactMatch OMIM:610193 arrhythmogenic right ventricular dysplasia, familial, 10 semapv:UnspecifiedMatching MONDO:0012434 arrhythmogenic right ventricular dysplasia 10 skos:exactMatch UMLS:C1857777 semapv:UnspecifiedMatching MONDO:0012434 arrhythmogenic right ventricular dysplasia 10 skos:exactMatch mesh:C565707 semapv:UnspecifiedMatching MONDO:0012435 3-methylglutaconic aciduria type 5 skos:exactMatch DOID:0110000 3-methylglutaconic aciduria type 5 semapv:UnspecifiedMatching MONDO:0012435 3-methylglutaconic aciduria type 5 skos:exactMatch MEDGEN:347542 semapv:UnspecifiedMatching MONDO:0012435 3-methylglutaconic aciduria type 5 skos:exactMatch NCIT:C173146 3-Methylglutaconic Aciduria Type 5 semapv:UnspecifiedMatching MONDO:0012435 3-methylglutaconic aciduria type 5 skos:exactMatch OMIM:610198 3-methylglutaconic aciduria, type 5 semapv:UnspecifiedMatching MONDO:0012435 3-methylglutaconic aciduria type 5 skos:exactMatch Orphanet:66634 Dilated cardiomyopathy with ataxia semapv:UnspecifiedMatching MONDO:0012435 3-methylglutaconic aciduria type 5 skos:exactMatch SCTID:711412004 semapv:UnspecifiedMatching MONDO:0012435 3-methylglutaconic aciduria type 5 skos:exactMatch UMLS:C1857776 semapv:UnspecifiedMatching MONDO:0012435 3-methylglutaconic aciduria type 5 skos:exactMatch icd11.foundation:422277813 3-methylglutaconic aciduria type 5 semapv:UnspecifiedMatching MONDO:0012435 3-methylglutaconic aciduria type 5 skos:exactMatch mesh:C565706 semapv:UnspecifiedMatching MONDO:0012436 neonatal diabetes mellitus with congenital hypothyroidism skos:exactMatch DOID:0060638 neonatal diabetes mellitus with congenital hypothyroidism semapv:UnspecifiedMatching MONDO:0012436 neonatal diabetes mellitus with congenital hypothyroidism skos:exactMatch MEDGEN:347541 semapv:UnspecifiedMatching MONDO:0012436 neonatal diabetes mellitus with congenital hypothyroidism skos:exactMatch OMIM:610199 diabetes mellitus, neonatal, with congenital hypothyroidism semapv:UnspecifiedMatching MONDO:0012436 neonatal diabetes mellitus with congenital hypothyroidism skos:exactMatch Orphanet:79118 Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome semapv:UnspecifiedMatching MONDO:0012436 neonatal diabetes mellitus with congenital hypothyroidism skos:exactMatch UMLS:C1857775 semapv:UnspecifiedMatching MONDO:0012436 neonatal diabetes mellitus with congenital hypothyroidism skos:exactMatch mesh:C565705 semapv:UnspecifiedMatching MONDO:0012437 cataract 21 multiple types skos:exactMatch DOID:0110256 cataract 21 multiple types semapv:UnspecifiedMatching MONDO:0012437 cataract 21 multiple types skos:exactMatch MEDGEN:347538 semapv:UnspecifiedMatching MONDO:0012437 cataract 21 multiple types skos:exactMatch OMIM:610202 cataract 21, multiple types semapv:UnspecifiedMatching MONDO:0012437 cataract 21 multiple types skos:exactMatch UMLS:C1857768 semapv:UnspecifiedMatching MONDO:0012437 cataract 21 multiple types skos:exactMatch mesh:C565703 semapv:UnspecifiedMatching MONDO:0012438 pontocerebellar hypoplasia type 5 skos:exactMatch DOID:0060274 pontocerebellar hypoplasia type 5 semapv:UnspecifiedMatching MONDO:0012438 pontocerebellar hypoplasia type 5 skos:exactMatch MEDGEN:341845 semapv:UnspecifiedMatching MONDO:0012438 pontocerebellar hypoplasia type 5 skos:exactMatch OMIM:610204 pontocerebellar hypoplasia, type 5 semapv:UnspecifiedMatching MONDO:0012438 pontocerebellar hypoplasia type 5 skos:exactMatch SCTID:718607001 semapv:UnspecifiedMatching MONDO:0012438 pontocerebellar hypoplasia type 5 skos:exactMatch UMLS:C1857762 semapv:UnspecifiedMatching MONDO:0012438 pontocerebellar hypoplasia type 5 skos:exactMatch icd11.foundation:1962551792 Pontocerebellar hypoplasia type 5 semapv:UnspecifiedMatching MONDO:0012438 pontocerebellar hypoplasia type 5 skos:exactMatch mesh:C537745 semapv:UnspecifiedMatching MONDO:0012439 Alagille syndrome due to a NOTCH2 point mutation skos:exactMatch MEDGEN:341844 semapv:UnspecifiedMatching MONDO:0012439 Alagille syndrome due to a NOTCH2 point mutation skos:exactMatch OMIM:610205 alagille syndrome 2 semapv:UnspecifiedMatching MONDO:0012439 Alagille syndrome due to a NOTCH2 point mutation skos:exactMatch Orphanet:261629 Alagille syndrome due to a NOTCH2 point mutation semapv:UnspecifiedMatching MONDO:0012439 Alagille syndrome due to a NOTCH2 point mutation skos:exactMatch UMLS:C1857761 semapv:UnspecifiedMatching MONDO:0012440 migraine with or without aura, susceptibility to, 10 skos:exactMatch MEDGEN:341839 semapv:UnspecifiedMatching MONDO:0012440 migraine with or without aura, susceptibility to, 10 skos:exactMatch OMIM:610208 migraine with or without aura, susceptibility to, 10 semapv:UnspecifiedMatching MONDO:0012440 migraine with or without aura, susceptibility to, 10 skos:exactMatch UMLS:C1857752 semapv:UnspecifiedMatching MONDO:0012441 migraine with or without aura, susceptibility to, 11 skos:exactMatch MEDGEN:387900 semapv:UnspecifiedMatching MONDO:0012441 migraine with or without aura, susceptibility to, 11 skos:exactMatch OMIM:610209 migraine with or without aura, susceptibility to, 11 semapv:UnspecifiedMatching MONDO:0012441 migraine with or without aura, susceptibility to, 11 skos:exactMatch UMLS:C1857751 semapv:UnspecifiedMatching MONDO:0012442 autosomal recessive nonsyndromic hearing loss 66 skos:exactMatch DOID:0110517 autosomal recessive nonsyndromic deafness 66 semapv:UnspecifiedMatching MONDO:0012442 autosomal recessive nonsyndromic hearing loss 66 skos:exactMatch MEDGEN:346659 semapv:UnspecifiedMatching MONDO:0012442 autosomal recessive nonsyndromic hearing loss 66 skos:exactMatch OMIM:610212 deafness, autosomal recessive 66 semapv:UnspecifiedMatching MONDO:0012442 autosomal recessive nonsyndromic hearing loss 66 skos:exactMatch UMLS:C1857750 semapv:UnspecifiedMatching MONDO:0012442 autosomal recessive nonsyndromic hearing loss 66 skos:exactMatch mesh:C565701 semapv:UnspecifiedMatching MONDO:0012443 aneurysm, intracranial berry, 4 skos:exactMatch DOID:0080967 intracranial berry aneurysm 4 semapv:UnspecifiedMatching MONDO:0012443 aneurysm, intracranial berry, 4 skos:exactMatch MEDGEN:341838 semapv:UnspecifiedMatching MONDO:0012443 aneurysm, intracranial berry, 4 skos:exactMatch OMIM:610213 aneurysm, intracranial berry, 4 semapv:UnspecifiedMatching MONDO:0012443 aneurysm, intracranial berry, 4 skos:exactMatch UMLS:C1857749 semapv:UnspecifiedMatching MONDO:0012443 aneurysm, intracranial berry, 4 skos:exactMatch mesh:C565700 semapv:UnspecifiedMatching MONDO:0012444 neurodegeneration with brain iron accumulation 2B skos:exactMatch DOID:0110736 neurodegeneration with brain iron accumulation 2b semapv:UnspecifiedMatching MONDO:0012444 neurodegeneration with brain iron accumulation 2B skos:exactMatch MEDGEN:346658 semapv:UnspecifiedMatching MONDO:0012444 neurodegeneration with brain iron accumulation 2B skos:exactMatch OMIM:610217 neurodegeneration with brain iron accumulation 2b semapv:UnspecifiedMatching MONDO:0012444 neurodegeneration with brain iron accumulation 2B skos:exactMatch UMLS:C1857747 semapv:UnspecifiedMatching MONDO:0012445 autosomal recessive nonsyndromic hearing loss 59 skos:exactMatch DOID:0110511 autosomal recessive nonsyndromic deafness 59 semapv:UnspecifiedMatching MONDO:0012445 autosomal recessive nonsyndromic hearing loss 59 skos:exactMatch MEDGEN:387899 semapv:UnspecifiedMatching MONDO:0012445 autosomal recessive nonsyndromic hearing loss 59 skos:exactMatch OMIM:610220 deafness, autosomal recessive 59 semapv:UnspecifiedMatching MONDO:0012445 autosomal recessive nonsyndromic hearing loss 59 skos:exactMatch UMLS:C1857744 semapv:UnspecifiedMatching MONDO:0012445 autosomal recessive nonsyndromic hearing loss 59 skos:exactMatch mesh:C565698 semapv:UnspecifiedMatching MONDO:0012446 seborrhea-like dermatitis with psoriasiform elements skos:exactMatch MEDGEN:342832 semapv:UnspecifiedMatching MONDO:0012446 seborrhea-like dermatitis with psoriasiform elements skos:exactMatch OMIM:610227 seborrhea-like dermatitis with psoriasiform elements semapv:UnspecifiedMatching MONDO:0012446 seborrhea-like dermatitis with psoriasiform elements skos:exactMatch Orphanet:168606 Seborrhea-like dermatitis with psoriasiform elements semapv:UnspecifiedMatching MONDO:0012446 seborrhea-like dermatitis with psoriasiform elements skos:exactMatch UMLS:C1853258 semapv:UnspecifiedMatching MONDO:0012446 seborrhea-like dermatitis with psoriasiform elements skos:exactMatch mesh:C565217 semapv:UnspecifiedMatching MONDO:0012447 synpolydactyly type 3 skos:exactMatch MEDGEN:344005 semapv:UnspecifiedMatching MONDO:0012447 synpolydactyly type 3 skos:exactMatch OMIM:610234 synpolydactyly 3 semapv:UnspecifiedMatching MONDO:0012447 synpolydactyly type 3 skos:exactMatch Orphanet:295199 Synpolydactyly type 3 semapv:UnspecifiedMatching MONDO:0012447 synpolydactyly type 3 skos:exactMatch UMLS:C1853255 semapv:UnspecifiedMatching MONDO:0012447 synpolydactyly type 3 skos:exactMatch icd11.foundation:1671501762 Synpolydactyly type 3 semapv:UnspecifiedMatching MONDO:0012447 synpolydactyly type 3 skos:exactMatch mesh:C565216 semapv:UnspecifiedMatching MONDO:0012448 hereditary spastic paraplegia 33 skos:exactMatch DOID:0110784 hereditary spastic paraplegia 33 semapv:UnspecifiedMatching MONDO:0012448 hereditary spastic paraplegia 33 skos:exactMatch MEDGEN:339943 semapv:UnspecifiedMatching MONDO:0012448 hereditary spastic paraplegia 33 skos:exactMatch OMIM:610244 spastic paraplegia 33, autosomal dominant semapv:UnspecifiedMatching MONDO:0012448 hereditary spastic paraplegia 33 skos:exactMatch UMLS:C1853251 semapv:UnspecifiedMatching MONDO:0012448 hereditary spastic paraplegia 33 skos:exactMatch mesh:C565214 semapv:UnspecifiedMatching MONDO:0012449 spinocerebellar ataxia type 23 skos:exactMatch DOID:0050973 spinocerebellar ataxia 23 semapv:UnspecifiedMatching MONDO:0012449 spinocerebellar ataxia type 23 skos:exactMatch MEDGEN:339942 semapv:UnspecifiedMatching MONDO:0012449 spinocerebellar ataxia type 23 skos:exactMatch OMIM:610245 spinocerebellar ataxia 23 semapv:UnspecifiedMatching MONDO:0012449 spinocerebellar ataxia type 23 skos:exactMatch Orphanet:101108 Spinocerebellar ataxia type 23 semapv:UnspecifiedMatching MONDO:0012449 spinocerebellar ataxia type 23 skos:exactMatch SCTID:718772002 semapv:UnspecifiedMatching MONDO:0012449 spinocerebellar ataxia type 23 skos:exactMatch UMLS:C1853250 semapv:UnspecifiedMatching MONDO:0012449 spinocerebellar ataxia type 23 skos:exactMatch icd11.foundation:1340267869 Spinocerebellar ataxia type 23 semapv:UnspecifiedMatching MONDO:0012449 spinocerebellar ataxia type 23 skos:exactMatch mesh:C537201 semapv:UnspecifiedMatching MONDO:0012450 spinocerebellar ataxia type 28 skos:exactMatch DOID:0050977 spinocerebellar ataxia 28 semapv:UnspecifiedMatching MONDO:0012450 spinocerebellar ataxia type 28 skos:exactMatch MEDGEN:339941 semapv:UnspecifiedMatching MONDO:0012450 spinocerebellar ataxia type 28 skos:exactMatch OMIM:610246 spinocerebellar ataxia 28 semapv:UnspecifiedMatching MONDO:0012450 spinocerebellar ataxia type 28 skos:exactMatch Orphanet:101109 Spinocerebellar ataxia type 28 semapv:UnspecifiedMatching MONDO:0012450 spinocerebellar ataxia type 28 skos:exactMatch SCTID:715824008 semapv:UnspecifiedMatching MONDO:0012450 spinocerebellar ataxia type 28 skos:exactMatch UMLS:C1853249 semapv:UnspecifiedMatching MONDO:0012450 spinocerebellar ataxia type 28 skos:exactMatch icd11.foundation:2020736035 Spinocerebellar ataxia type 28 semapv:UnspecifiedMatching MONDO:0012450 spinocerebellar ataxia type 28 skos:exactMatch mesh:C537205 semapv:UnspecifiedMatching MONDO:0012451 esophagitis, eosinophilic, 1 skos:exactMatch MEDGEN:1634032 semapv:UnspecifiedMatching MONDO:0012451 esophagitis, eosinophilic, 1 skos:exactMatch OMIM:610247 esophagitis, eosinophilic, 1 semapv:UnspecifiedMatching MONDO:0012451 esophagitis, eosinophilic, 1 skos:exactMatch UMLS:C4551589 semapv:UnspecifiedMatching MONDO:0012452 autosomal recessive nonsyndromic hearing loss 65 skos:exactMatch DOID:0110516 autosomal recessive nonsyndromic deafness 65 semapv:UnspecifiedMatching MONDO:0012452 autosomal recessive nonsyndromic hearing loss 65 skos:exactMatch MEDGEN:344004 semapv:UnspecifiedMatching MONDO:0012452 autosomal recessive nonsyndromic hearing loss 65 skos:exactMatch OMIM:610248 deafness, autosomal recessive 65 semapv:UnspecifiedMatching MONDO:0012452 autosomal recessive nonsyndromic hearing loss 65 skos:exactMatch UMLS:C1853248 semapv:UnspecifiedMatching MONDO:0012452 autosomal recessive nonsyndromic hearing loss 65 skos:exactMatch mesh:C565211 semapv:UnspecifiedMatching MONDO:0012453 hereditary spastic paraplegia 31 skos:exactMatch DOID:0110782 hereditary spastic paraplegia 31 semapv:UnspecifiedMatching MONDO:0012453 hereditary spastic paraplegia 31 skos:exactMatch MEDGEN:377858 semapv:UnspecifiedMatching MONDO:0012453 hereditary spastic paraplegia 31 skos:exactMatch OMIM:610250 spastic paraplegia 31, autosomal dominant semapv:UnspecifiedMatching MONDO:0012453 hereditary spastic paraplegia 31 skos:exactMatch Orphanet:101011 Autosomal dominant spastic paraplegia type 31 semapv:UnspecifiedMatching MONDO:0012453 hereditary spastic paraplegia 31 skos:exactMatch SCTID:763068005 semapv:UnspecifiedMatching MONDO:0012453 hereditary spastic paraplegia 31 skos:exactMatch UMLS:C1853247 semapv:UnspecifiedMatching MONDO:0012453 hereditary spastic paraplegia 31 skos:exactMatch mesh:C565210 semapv:UnspecifiedMatching MONDO:0012454 alcohol sensitivity, acute skos:exactMatch MEDGEN:390639 semapv:UnspecifiedMatching MONDO:0012454 alcohol sensitivity, acute skos:exactMatch OMIM:610251 alcohol sensitivity, acute semapv:UnspecifiedMatching MONDO:0012454 alcohol sensitivity, acute skos:exactMatch UMLS:C2674838 semapv:UnspecifiedMatching MONDO:0012455 Kleefstra syndrome skos:exactMatch DOID:0080597 Kleefstra syndrome semapv:UnspecifiedMatching MONDO:0012455 Kleefstra syndrome skos:exactMatch MEDGEN:1684615 semapv:UnspecifiedMatching MONDO:0012455 Kleefstra syndrome skos:exactMatch OMIMPS:610253 Kleefstra syndrome semapv:UnspecifiedMatching MONDO:0012455 Kleefstra syndrome skos:exactMatch Orphanet:261494 Kleefstra syndrome semapv:UnspecifiedMatching MONDO:0012455 Kleefstra syndrome skos:exactMatch UMLS:C4551771 semapv:UnspecifiedMatching MONDO:0012455 Kleefstra syndrome skos:exactMatch icd11.foundation:1997337437 Kleefstra syndrome semapv:UnspecifiedMatching MONDO:0012456 congenital primary aphakia skos:exactMatch DOID:0080607 anterior segment dysgenesis 2 semapv:UnspecifiedMatching MONDO:0012456 congenital primary aphakia skos:exactMatch DOID:11367 congenital aphakia semapv:UnspecifiedMatching MONDO:0012456 congenital primary aphakia skos:exactMatch ICD10CM:Q12.3 Congenital aphakia semapv:UnspecifiedMatching MONDO:0012456 congenital primary aphakia skos:exactMatch MEDGEN:339935 semapv:UnspecifiedMatching MONDO:0012456 congenital primary aphakia skos:exactMatch NCIT:C35172 Congenital Aphakia semapv:UnspecifiedMatching MONDO:0012456 congenital primary aphakia skos:exactMatch OMIM:610256 anterior segment dysgenesis 2 semapv:UnspecifiedMatching MONDO:0012456 congenital primary aphakia skos:exactMatch Orphanet:83461 Congenital primary aphakia semapv:UnspecifiedMatching MONDO:0012456 congenital primary aphakia skos:exactMatch SCTID:35387008 semapv:UnspecifiedMatching MONDO:0012456 congenital primary aphakia skos:exactMatch UMLS:C1853230 semapv:UnspecifiedMatching MONDO:0012456 congenital primary aphakia skos:exactMatch icd11.foundation:885383581 Congenital aphakia semapv:UnspecifiedMatching MONDO:0012456 congenital primary aphakia skos:exactMatch mesh:C537786 semapv:UnspecifiedMatching MONDO:0012457 pyloric stenosis, infantile hypertrophic, 2 skos:exactMatch MEDGEN:339934 semapv:UnspecifiedMatching MONDO:0012457 pyloric stenosis, infantile hypertrophic, 2 skos:exactMatch OMIM:610260 pyloric stenosis, infantile hypertrophic, 2 semapv:UnspecifiedMatching MONDO:0012457 pyloric stenosis, infantile hypertrophic, 2 skos:exactMatch UMLS:C1853228 semapv:UnspecifiedMatching MONDO:0012457 pyloric stenosis, infantile hypertrophic, 2 skos:exactMatch mesh:C565208 semapv:UnspecifiedMatching MONDO:0012458 hypertension, essential, susceptibility to, 5 skos:exactMatch MEDGEN:339933 semapv:UnspecifiedMatching MONDO:0012458 hypertension, essential, susceptibility to, 5 skos:exactMatch OMIM:610261 hypertension, essential, susceptibility to, 5 semapv:UnspecifiedMatching MONDO:0012458 hypertension, essential, susceptibility to, 5 skos:exactMatch UMLS:C1853227 semapv:UnspecifiedMatching MONDO:0012459 hypertension, essential, susceptibility to, 6 skos:exactMatch MEDGEN:377855 semapv:UnspecifiedMatching MONDO:0012459 hypertension, essential, susceptibility to, 6 skos:exactMatch OMIM:610262 hypertension, essential, susceptibility to, 6 semapv:UnspecifiedMatching MONDO:0012459 hypertension, essential, susceptibility to, 6 skos:exactMatch UMLS:C1853226 semapv:UnspecifiedMatching MONDO:0012460 autosomal recessive nonsyndromic hearing loss 67 skos:exactMatch DOID:0110518 autosomal recessive nonsyndromic deafness 67 semapv:UnspecifiedMatching MONDO:0012460 autosomal recessive nonsyndromic hearing loss 67 skos:exactMatch MEDGEN:343997 semapv:UnspecifiedMatching MONDO:0012460 autosomal recessive nonsyndromic hearing loss 67 skos:exactMatch OMIM:610265 deafness, autosomal recessive 67 semapv:UnspecifiedMatching MONDO:0012460 autosomal recessive nonsyndromic hearing loss 67 skos:exactMatch UMLS:C1853223 semapv:UnspecifiedMatching MONDO:0012460 autosomal recessive nonsyndromic hearing loss 67 skos:exactMatch mesh:C565207 semapv:UnspecifiedMatching MONDO:0012461 obsolete bulimia nervosa, susceptibility to, 2 skos:exactMatch OMIM:610269 semapv:UnspecifiedMatching MONDO:0012462 autosomal recessive frontotemporal pachygyria skos:exactMatch MEDGEN:343995 semapv:UnspecifiedMatching MONDO:0012462 autosomal recessive frontotemporal pachygyria skos:exactMatch OMIM:610279 pachygyria, frontotemporal semapv:UnspecifiedMatching MONDO:0012462 autosomal recessive frontotemporal pachygyria skos:exactMatch Orphanet:329329 Autosomal recessive frontotemporal pachygyria semapv:UnspecifiedMatching MONDO:0012462 autosomal recessive frontotemporal pachygyria skos:exactMatch UMLS:C1853215 semapv:UnspecifiedMatching MONDO:0012462 autosomal recessive frontotemporal pachygyria skos:exactMatch mesh:C538092 semapv:UnspecifiedMatching MONDO:0012463 retinitis pigmentosa 35 skos:exactMatch DOID:0110357 retinitis pigmentosa 35 semapv:UnspecifiedMatching MONDO:0012463 retinitis pigmentosa 35 skos:exactMatch MEDGEN:339931 semapv:UnspecifiedMatching MONDO:0012463 retinitis pigmentosa 35 skos:exactMatch OMIM:610282 retinitis pigmentosa 35 semapv:UnspecifiedMatching MONDO:0012463 retinitis pigmentosa 35 skos:exactMatch UMLS:C1853214 semapv:UnspecifiedMatching MONDO:0012463 retinitis pigmentosa 35 skos:exactMatch mesh:C565206 semapv:UnspecifiedMatching MONDO:0012464 cone-rod dystrophy 10 skos:exactMatch DOID:0111017 cone-rod dystrophy 10 semapv:UnspecifiedMatching MONDO:0012464 cone-rod dystrophy 10 skos:exactMatch MEDGEN:337598 semapv:UnspecifiedMatching MONDO:0012464 cone-rod dystrophy 10 skos:exactMatch OMIM:610283 cone-rod dystrophy 10 semapv:UnspecifiedMatching MONDO:0012464 cone-rod dystrophy 10 skos:exactMatch UMLS:C1846529 semapv:UnspecifiedMatching MONDO:0012464 cone-rod dystrophy 10 skos:exactMatch mesh:C564597 semapv:UnspecifiedMatching MONDO:0012465 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency skos:exactMatch MEDGEN:1684821 semapv:UnspecifiedMatching MONDO:0012465 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency skos:exactMatch OMIM:610293 glycosylphosphatidylinositol biosynthesis defect 1 semapv:UnspecifiedMatching MONDO:0012465 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency skos:exactMatch Orphanet:83639 Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency semapv:UnspecifiedMatching MONDO:0012465 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency skos:exactMatch SCTID:724344004 semapv:UnspecifiedMatching MONDO:0012465 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency skos:exactMatch UMLS:C5201145 semapv:UnspecifiedMatching MONDO:0012465 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency skos:exactMatch icd11.foundation:1811042875 Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency semapv:UnspecifiedMatching MONDO:0012466 Parkinson disease 13, autosomal dominant, susceptibility to skos:exactMatch MEDGEN:343992 semapv:UnspecifiedMatching MONDO:0012466 Parkinson disease 13, autosomal dominant, susceptibility to skos:exactMatch OMIM:610297 parkinson disease 13, autosomal dominant, susceptibility to semapv:UnspecifiedMatching MONDO:0012466 Parkinson disease 13, autosomal dominant, susceptibility to skos:exactMatch UMLS:C1853202 semapv:UnspecifiedMatching MONDO:0012466 Parkinson disease 13, autosomal dominant, susceptibility to skos:exactMatch mesh:C565204 semapv:UnspecifiedMatching MONDO:0012467 cold-induced sweating syndrome 2 skos:exactMatch DOID:0080330 cold-induced sweating syndrome 2 semapv:UnspecifiedMatching MONDO:0012467 cold-induced sweating syndrome 2 skos:exactMatch MEDGEN:342816 semapv:UnspecifiedMatching MONDO:0012467 cold-induced sweating syndrome 2 skos:exactMatch OMIM:610313 crisponi/cold-induced sweating syndrome 2 semapv:UnspecifiedMatching MONDO:0012467 cold-induced sweating syndrome 2 skos:exactMatch UMLS:C1853198 semapv:UnspecifiedMatching MONDO:0012467 cold-induced sweating syndrome 2 skos:exactMatch mesh:C564791 semapv:UnspecifiedMatching MONDO:0012468 rhizomelic dysplasia, scoliosis, and retinitis pigmentosa skos:exactMatch MEDGEN:342815 semapv:UnspecifiedMatching MONDO:0012468 rhizomelic dysplasia, scoliosis, and retinitis pigmentosa skos:exactMatch OMIM:610319 rhizomelic dysplasia, scoliosis, and retinitis pigmentosa semapv:UnspecifiedMatching MONDO:0012468 rhizomelic dysplasia, scoliosis, and retinitis pigmentosa skos:exactMatch UMLS:C1853197 semapv:UnspecifiedMatching MONDO:0012468 rhizomelic dysplasia, scoliosis, and retinitis pigmentosa skos:exactMatch mesh:C537610 semapv:UnspecifiedMatching MONDO:0012469 myopia 14 skos:exactMatch MEDGEN:343990 semapv:UnspecifiedMatching MONDO:0012469 myopia 14 skos:exactMatch OMIM:610320 myopia 14 semapv:UnspecifiedMatching MONDO:0012469 myopia 14 skos:exactMatch UMLS:C1853196 semapv:UnspecifiedMatching MONDO:0012469 myopia 14 skos:exactMatch mesh:C565202 semapv:UnspecifiedMatching MONDO:0012470 prostate cancer, hereditary, 7 skos:exactMatch MEDGEN:377849 semapv:UnspecifiedMatching MONDO:0012470 prostate cancer, hereditary, 7 skos:exactMatch OMIM:610321 prostate cancer, hereditary, 7 semapv:UnspecifiedMatching MONDO:0012470 prostate cancer, hereditary, 7 skos:exactMatch UMLS:C1853195 semapv:UnspecifiedMatching MONDO:0012470 prostate cancer, hereditary, 7 skos:exactMatch mesh:C565201 semapv:UnspecifiedMatching MONDO:0012471 Aicardi-Goutieres syndrome 3 skos:exactMatch MEDGEN:324389 semapv:UnspecifiedMatching MONDO:0012471 Aicardi-Goutieres syndrome 3 skos:exactMatch OMIM:610329 aicardi-goutieres syndrome 3 semapv:UnspecifiedMatching MONDO:0012471 Aicardi-Goutieres syndrome 3 skos:exactMatch UMLS:C1835916 semapv:UnspecifiedMatching MONDO:0012471 Aicardi-Goutieres syndrome 3 skos:exactMatch mesh:C563683 semapv:UnspecifiedMatching MONDO:0012472 Aicardi-Goutieres syndrome 4 skos:exactMatch MEDGEN:332084 semapv:UnspecifiedMatching MONDO:0012472 Aicardi-Goutieres syndrome 4 skos:exactMatch OMIM:610333 aicardi-goutieres syndrome 4 semapv:UnspecifiedMatching MONDO:0012472 Aicardi-Goutieres syndrome 4 skos:exactMatch UMLS:C1835912 semapv:UnspecifiedMatching MONDO:0012472 Aicardi-Goutieres syndrome 4 skos:exactMatch mesh:C563681 semapv:UnspecifiedMatching MONDO:0012473 right pulmonary artery, anomalous origin of, familial skos:exactMatch MEDGEN:322780 semapv:UnspecifiedMatching MONDO:0012473 right pulmonary artery, anomalous origin of, familial skos:exactMatch OMIM:610338 right pulmonary artery, anomalous origin of, familial semapv:UnspecifiedMatching MONDO:0012473 right pulmonary artery, anomalous origin of, familial skos:exactMatch UMLS:C1835910 semapv:UnspecifiedMatching MONDO:0012473 right pulmonary artery, anomalous origin of, familial skos:exactMatch mesh:C535681 semapv:UnspecifiedMatching MONDO:0012474 autosomal dominant nocturnal frontal lobe epilepsy 4 skos:exactMatch DOID:0060685 autosomal dominant nocturnal frontal lobe epilepsy 4 semapv:UnspecifiedMatching MONDO:0012474 autosomal dominant nocturnal frontal lobe epilepsy 4 skos:exactMatch MEDGEN:332082 semapv:UnspecifiedMatching MONDO:0012474 autosomal dominant nocturnal frontal lobe epilepsy 4 skos:exactMatch OMIM:610353 epilepsy, nocturnal frontal lobe, 4 semapv:UnspecifiedMatching MONDO:0012474 autosomal dominant nocturnal frontal lobe epilepsy 4 skos:exactMatch UMLS:C1835905 semapv:UnspecifiedMatching MONDO:0012474 autosomal dominant nocturnal frontal lobe epilepsy 4 skos:exactMatch mesh:C563679 semapv:UnspecifiedMatching MONDO:0012475 cone dystrophy with supernormal rod response skos:exactMatch DOID:0081022 retinal cone dystrophy 3B semapv:UnspecifiedMatching MONDO:0012475 cone dystrophy with supernormal rod response skos:exactMatch MEDGEN:332081 semapv:UnspecifiedMatching MONDO:0012475 cone dystrophy with supernormal rod response skos:exactMatch OMIM:610356 cone dystrophy with supernormal rod responses semapv:UnspecifiedMatching MONDO:0012475 cone dystrophy with supernormal rod response skos:exactMatch Orphanet:209932 Cone dystrophy with supernormal rod response semapv:UnspecifiedMatching MONDO:0012475 cone dystrophy with supernormal rod response skos:exactMatch SCTID:719455002 semapv:UnspecifiedMatching MONDO:0012475 cone dystrophy with supernormal rod response skos:exactMatch UMLS:C1835897 semapv:UnspecifiedMatching MONDO:0012475 cone dystrophy with supernormal rod response skos:exactMatch icd11.foundation:545671557 Cone dystrophy with supernormal rod response semapv:UnspecifiedMatching MONDO:0012475 cone dystrophy with supernormal rod response skos:exactMatch mesh:C563678 semapv:UnspecifiedMatching MONDO:0012476 hereditary spastic paraplegia 30 skos:exactMatch DOID:0110781 hereditary spastic paraplegia 30 semapv:UnspecifiedMatching MONDO:0012476 hereditary spastic paraplegia 30 skos:exactMatch MEDGEN:1710020 semapv:UnspecifiedMatching MONDO:0012476 hereditary spastic paraplegia 30 skos:exactMatch Orphanet:101010 Autosomal spastic paraplegia type 30 semapv:UnspecifiedMatching MONDO:0012476 hereditary spastic paraplegia 30 skos:exactMatch SCTID:763377006 semapv:UnspecifiedMatching MONDO:0012476 hereditary spastic paraplegia 30 skos:exactMatch UMLS:C5235139 semapv:UnspecifiedMatching MONDO:0012476 hereditary spastic paraplegia 30 skos:exactMatch mesh:C563677 semapv:UnspecifiedMatching MONDO:0012477 retinitis pigmentosa 33 skos:exactMatch DOID:0110366 retinitis pigmentosa 33 semapv:UnspecifiedMatching MONDO:0012477 retinitis pigmentosa 33 skos:exactMatch MEDGEN:332080 semapv:UnspecifiedMatching MONDO:0012477 retinitis pigmentosa 33 skos:exactMatch OMIM:610359 retinitis pigmentosa 33 semapv:UnspecifiedMatching MONDO:0012477 retinitis pigmentosa 33 skos:exactMatch UMLS:C1835895 semapv:UnspecifiedMatching MONDO:0012477 retinitis pigmentosa 33 skos:exactMatch mesh:C563676 semapv:UnspecifiedMatching MONDO:0012478 orofacial cleft 9 skos:exactMatch DOID:0080402 orofacial cleft 9 semapv:UnspecifiedMatching MONDO:0012478 orofacial cleft 9 skos:exactMatch MEDGEN:332079 semapv:UnspecifiedMatching MONDO:0012478 orofacial cleft 9 skos:exactMatch OMIM:610361 orofacial cleft 9 semapv:UnspecifiedMatching MONDO:0012478 orofacial cleft 9 skos:exactMatch UMLS:C1835894 semapv:UnspecifiedMatching MONDO:0012478 orofacial cleft 9 skos:exactMatch mesh:C563675 semapv:UnspecifiedMatching MONDO:0012479 congenital malabsorptive diarrhea 4 skos:exactMatch DOID:0060779 congenital malabsorptive diarrhea 4 semapv:UnspecifiedMatching MONDO:0012479 congenital malabsorptive diarrhea 4 skos:exactMatch MEDGEN:372151 semapv:UnspecifiedMatching MONDO:0012479 congenital malabsorptive diarrhea 4 skos:exactMatch OMIM:610370 diarrhea 4, malabsorptive, congenital, with diabetes mellitus and combined pituitary hormone deficiency semapv:UnspecifiedMatching MONDO:0012479 congenital malabsorptive diarrhea 4 skos:exactMatch Orphanet:83620 Enteric anendocrinosis semapv:UnspecifiedMatching MONDO:0012479 congenital malabsorptive diarrhea 4 skos:exactMatch SCTID:722392003 semapv:UnspecifiedMatching MONDO:0012479 congenital malabsorptive diarrhea 4 skos:exactMatch UMLS:C1835888 semapv:UnspecifiedMatching MONDO:0012479 congenital malabsorptive diarrhea 4 skos:exactMatch icd11.foundation:302560695 Congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells semapv:UnspecifiedMatching MONDO:0012479 congenital malabsorptive diarrhea 4 skos:exactMatch mesh:C563673 semapv:UnspecifiedMatching MONDO:0012480 diabetes mellitus, transient neonatal, 2 skos:exactMatch DOID:0061174 transient neonatal diabetes mellitus 2 semapv:UnspecifiedMatching MONDO:0012480 diabetes mellitus, transient neonatal, 2 skos:exactMatch MEDGEN:372150 semapv:UnspecifiedMatching MONDO:0012480 diabetes mellitus, transient neonatal, 2 skos:exactMatch OMIM:610374 diabetes mellitus, transient neonatal, 2 semapv:UnspecifiedMatching MONDO:0012480 diabetes mellitus, transient neonatal, 2 skos:exactMatch SCTID:609580007 semapv:UnspecifiedMatching MONDO:0012480 diabetes mellitus, transient neonatal, 2 skos:exactMatch UMLS:C1835887 semapv:UnspecifiedMatching MONDO:0012480 diabetes mellitus, transient neonatal, 2 skos:exactMatch mesh:C563672 semapv:UnspecifiedMatching MONDO:0012481 mevalonic aciduria skos:exactMatch DOID:0050452 mevalonic aciduria semapv:UnspecifiedMatching MONDO:0012481 mevalonic aciduria skos:exactMatch MEDGEN:368373 semapv:UnspecifiedMatching MONDO:0012481 mevalonic aciduria skos:exactMatch NCIT:C84890 Mevalonate Kinase Deficiency semapv:UnspecifiedMatching MONDO:0012481 mevalonic aciduria skos:exactMatch OMIM:610377 mevalonic aciduria semapv:UnspecifiedMatching MONDO:0012481 mevalonic aciduria skos:exactMatch Orphanet:29 Mevalonic aciduria semapv:UnspecifiedMatching MONDO:0012481 mevalonic aciduria skos:exactMatch SCTID:718558008 semapv:UnspecifiedMatching MONDO:0012481 mevalonic aciduria skos:exactMatch UMLS:C1959626 semapv:UnspecifiedMatching MONDO:0012481 mevalonic aciduria skos:exactMatch icd11.foundation:572875152 Mevalonic aciduria semapv:UnspecifiedMatching MONDO:0012482 West Nile virus, susceptibility to skos:exactMatch MEDGEN:372145 semapv:UnspecifiedMatching MONDO:0012482 West Nile virus, susceptibility to skos:exactMatch OMIM:610379 west nile virus, susceptibility to semapv:UnspecifiedMatching MONDO:0012482 West Nile virus, susceptibility to skos:exactMatch UMLS:C1835867 semapv:UnspecifiedMatching MONDO:0012483 cone-rod dystrophy 11 skos:exactMatch DOID:0111018 cone-rod dystrophy 11 semapv:UnspecifiedMatching MONDO:0012483 cone-rod dystrophy 11 skos:exactMatch MEDGEN:322767 semapv:UnspecifiedMatching MONDO:0012483 cone-rod dystrophy 11 skos:exactMatch OMIM:610381 cone-rod dystrophy 11 semapv:UnspecifiedMatching MONDO:0012483 cone-rod dystrophy 11 skos:exactMatch UMLS:C1835865 semapv:UnspecifiedMatching MONDO:0012483 cone-rod dystrophy 11 skos:exactMatch mesh:C563671 semapv:UnspecifiedMatching MONDO:0012484 prosopagnosia, hereditary skos:exactMatch MEDGEN:419809 semapv:UnspecifiedMatching MONDO:0012484 prosopagnosia, hereditary skos:exactMatch OMIM:610382 prosopagnosia, hereditary semapv:UnspecifiedMatching MONDO:0012484 prosopagnosia, hereditary skos:exactMatch UMLS:C2931455 semapv:UnspecifiedMatching MONDO:0012484 prosopagnosia, hereditary skos:exactMatch mesh:C537242 semapv:UnspecifiedMatching MONDO:0012485 autosomal recessive nonsyndromic hearing loss 68 skos:exactMatch DOID:0110519 autosomal recessive nonsyndromic deafness 68 semapv:UnspecifiedMatching MONDO:0012485 autosomal recessive nonsyndromic hearing loss 68 skos:exactMatch MEDGEN:324374 semapv:UnspecifiedMatching MONDO:0012485 autosomal recessive nonsyndromic hearing loss 68 skos:exactMatch OMIM:610419 deafness, autosomal recessive 68 semapv:UnspecifiedMatching MONDO:0012485 autosomal recessive nonsyndromic hearing loss 68 skos:exactMatch UMLS:C1835854 semapv:UnspecifiedMatching MONDO:0012485 autosomal recessive nonsyndromic hearing loss 68 skos:exactMatch mesh:C563669 semapv:UnspecifiedMatching MONDO:0012486 preauricular tag, isolated, autosomal dominant, 1 skos:exactMatch MEDGEN:369878 semapv:UnspecifiedMatching MONDO:0012486 preauricular tag, isolated, autosomal dominant, 1 skos:exactMatch OMIM:610420 preauricular tag, isolated, autosomal dominant, 1 semapv:UnspecifiedMatching MONDO:0012486 preauricular tag, isolated, autosomal dominant, 1 skos:exactMatch UMLS:C1968893 semapv:UnspecifiedMatching MONDO:0012486 preauricular tag, isolated, autosomal dominant, 1 skos:exactMatch mesh:C566904 semapv:UnspecifiedMatching MONDO:0012487 alopecia-intellectual disability syndrome 2 skos:exactMatch DOID:0080629 alopecia-mental retardation syndrome 2 semapv:UnspecifiedMatching MONDO:0012487 alopecia-intellectual disability syndrome 2 skos:exactMatch MEDGEN:372142 semapv:UnspecifiedMatching MONDO:0012487 alopecia-intellectual disability syndrome 2 skos:exactMatch OMIM:610422 alopecia-intellectual disability syndrome 2 semapv:UnspecifiedMatching MONDO:0012487 alopecia-intellectual disability syndrome 2 skos:exactMatch UMLS:C1835852 semapv:UnspecifiedMatching MONDO:0012487 alopecia-intellectual disability syndrome 2 skos:exactMatch mesh:C563668 semapv:UnspecifiedMatching MONDO:0012488 hepatitis B virus, susceptibility to skos:exactMatch MEDGEN:400632 semapv:UnspecifiedMatching MONDO:0012488 hepatitis B virus, susceptibility to skos:exactMatch OMIM:610424 hepatitis B virus, susceptibility to semapv:UnspecifiedMatching MONDO:0012488 hepatitis B virus, susceptibility to skos:exactMatch UMLS:C1864880 semapv:UnspecifiedMatching MONDO:0012489 cataract 23 skos:exactMatch DOID:0110271 cataract 23 semapv:UnspecifiedMatching MONDO:0012489 cataract 23 skos:exactMatch MEDGEN:814342 semapv:UnspecifiedMatching MONDO:0012489 cataract 23 skos:exactMatch OMIM:610425 cataract 23, multiple types semapv:UnspecifiedMatching MONDO:0012489 cataract 23 skos:exactMatch UMLS:C3808012 semapv:UnspecifiedMatching MONDO:0012490 cone-rod synaptic disorder, congenital nonprogressive skos:exactMatch MEDGEN:874422 semapv:UnspecifiedMatching MONDO:0012490 cone-rod synaptic disorder, congenital nonprogressive skos:exactMatch OMIM:610427 cone-rod synaptic disorder, congenital nonprogressive semapv:UnspecifiedMatching MONDO:0012490 cone-rod synaptic disorder, congenital nonprogressive skos:exactMatch UMLS:C4041558 semapv:UnspecifiedMatching MONDO:0012491 macroglobulinemia, Waldenstrom, 2 skos:exactMatch MEDGEN:355856 semapv:UnspecifiedMatching MONDO:0012491 macroglobulinemia, Waldenstrom, 2 skos:exactMatch OMIM:610430 macroglobulinemia, waldenstrom, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0012491 macroglobulinemia, Waldenstrom, 2 skos:exactMatch UMLS:C1864876 semapv:UnspecifiedMatching MONDO:0012492 restless legs syndrome, susceptibility to, 3 skos:exactMatch MEDGEN:355315 semapv:UnspecifiedMatching MONDO:0012492 restless legs syndrome, susceptibility to, 3 skos:exactMatch OMIM:610438 restless legs syndrome, susceptibility to, 3 semapv:UnspecifiedMatching MONDO:0012492 restless legs syndrome, susceptibility to, 3 skos:exactMatch UMLS:C1864875 semapv:UnspecifiedMatching MONDO:0012493 restless legs syndrome, susceptibility to, 4 skos:exactMatch MEDGEN:355855 semapv:UnspecifiedMatching MONDO:0012493 restless legs syndrome, susceptibility to, 4 skos:exactMatch OMIM:610439 restless legs syndrome, susceptibility to, 4 semapv:UnspecifiedMatching MONDO:0012493 restless legs syndrome, susceptibility to, 4 skos:exactMatch UMLS:C1864874 semapv:UnspecifiedMatching MONDO:0012494 testicular microlithiasis skos:exactMatch MEDGEN:355854 semapv:UnspecifiedMatching MONDO:0012494 testicular microlithiasis skos:exactMatch OMIM:610441 testicular microlithiasis semapv:UnspecifiedMatching MONDO:0012494 testicular microlithiasis skos:exactMatch UMLS:C1864873 semapv:UnspecifiedMatching MONDO:0012494 testicular microlithiasis skos:exactMatch mesh:C566478 semapv:UnspecifiedMatching MONDO:0012495 spondyloepimetaphyseal dysplasia, Genevieve type skos:exactMatch DOID:0080576 spondyloepimetaphyseal dysplasia, Genevieve-type semapv:UnspecifiedMatching MONDO:0012495 spondyloepimetaphyseal dysplasia, Genevieve type skos:exactMatch MEDGEN:355314 semapv:UnspecifiedMatching MONDO:0012495 spondyloepimetaphyseal dysplasia, Genevieve type skos:exactMatch OMIM:610442 spondyloepimetaphyseal dysplasia, genevieve type semapv:UnspecifiedMatching MONDO:0012495 spondyloepimetaphyseal dysplasia, Genevieve type skos:exactMatch Orphanet:168454 Spondyloepimetaphyseal dysplasia, Geneviève type semapv:UnspecifiedMatching MONDO:0012495 spondyloepimetaphyseal dysplasia, Genevieve type skos:exactMatch UMLS:C1864872 semapv:UnspecifiedMatching MONDO:0012495 spondyloepimetaphyseal dysplasia, Genevieve type skos:exactMatch icd11.foundation:1383217537 Spondyloepimetaphyseal dysplasia, Genevieve type semapv:UnspecifiedMatching MONDO:0012495 spondyloepimetaphyseal dysplasia, Genevieve type skos:exactMatch mesh:C535785 semapv:UnspecifiedMatching MONDO:0012496 Koolen-de Vries syndrome skos:exactMatch MEDGEN:355853 semapv:UnspecifiedMatching MONDO:0012496 Koolen-de Vries syndrome skos:exactMatch OMIM:610443 koolen-de vries syndrome semapv:UnspecifiedMatching MONDO:0012496 Koolen-de Vries syndrome skos:exactMatch Orphanet:96169 Koolen-De Vries syndrome semapv:UnspecifiedMatching MONDO:0012496 Koolen-de Vries syndrome skos:exactMatch UMLS:C1864871 semapv:UnspecifiedMatching MONDO:0012497 congenital stationary night blindness autosomal dominant 3 skos:exactMatch DOID:0110715 congenital stationary night blindness autosomal dominant 3 semapv:UnspecifiedMatching MONDO:0012497 congenital stationary night blindness autosomal dominant 3 skos:exactMatch MEDGEN:355313 semapv:UnspecifiedMatching MONDO:0012497 congenital stationary night blindness autosomal dominant 3 skos:exactMatch OMIM:610444 night blindness, congenital stationary, autosomal dominant 3 semapv:UnspecifiedMatching MONDO:0012497 congenital stationary night blindness autosomal dominant 3 skos:exactMatch UMLS:C1864870 semapv:UnspecifiedMatching MONDO:0012497 congenital stationary night blindness autosomal dominant 3 skos:exactMatch mesh:C566475 semapv:UnspecifiedMatching MONDO:0012498 congenital stationary night blindness autosomal dominant 1 skos:exactMatch DOID:0110862 congenital stationary night blindness autosomal dominant 1 semapv:UnspecifiedMatching MONDO:0012498 congenital stationary night blindness autosomal dominant 1 skos:exactMatch MEDGEN:355852 semapv:UnspecifiedMatching MONDO:0012498 congenital stationary night blindness autosomal dominant 1 skos:exactMatch OMIM:610445 night blindness, congenital stationary, autosomal dominant 1 semapv:UnspecifiedMatching MONDO:0012498 congenital stationary night blindness autosomal dominant 1 skos:exactMatch UMLS:C1864869 semapv:UnspecifiedMatching MONDO:0012498 congenital stationary night blindness autosomal dominant 1 skos:exactMatch mesh:C566474 semapv:UnspecifiedMatching MONDO:0012499 Buruli ulcer, susceptibility to skos:exactMatch MEDGEN:355851 semapv:UnspecifiedMatching MONDO:0012499 Buruli ulcer, susceptibility to skos:exactMatch OMIM:610446 buruli ulcer, susceptibility to semapv:UnspecifiedMatching MONDO:0012499 Buruli ulcer, susceptibility to skos:exactMatch UMLS:C1864868 semapv:UnspecifiedMatching MONDO:0012500 chilblain lupus 1 skos:exactMatch MEDGEN:9822 semapv:UnspecifiedMatching MONDO:0012500 chilblain lupus 1 skos:exactMatch OMIM:610448 chilblain lupus 1 semapv:UnspecifiedMatching MONDO:0012500 chilblain lupus 1 skos:exactMatch UMLS:C0024145 semapv:UnspecifiedMatching MONDO:0012501 obsolete mutagen sensitivity skos:exactMatch OMIM:610452 mutagen sensitivity semapv:UnspecifiedMatching MONDO:0012502 normophosphatemic familial tumoral calcinosis skos:exactMatch DOID:0080170 normophosphatemic familial tumoral calcinosis semapv:UnspecifiedMatching MONDO:0012502 normophosphatemic familial tumoral calcinosis skos:exactMatch MEDGEN:355311 semapv:UnspecifiedMatching MONDO:0012502 normophosphatemic familial tumoral calcinosis skos:exactMatch OMIM:610455 tumoral calcinosis, normophosphatemic, familial semapv:UnspecifiedMatching MONDO:0012502 normophosphatemic familial tumoral calcinosis skos:exactMatch Orphanet:306658 Familial normophosphatemic tumoral calcinosis semapv:UnspecifiedMatching MONDO:0012502 normophosphatemic familial tumoral calcinosis skos:exactMatch UMLS:C1864861 semapv:UnspecifiedMatching MONDO:0012502 normophosphatemic familial tumoral calcinosis skos:exactMatch mesh:C566473 semapv:UnspecifiedMatching MONDO:0012503 thiopurine S-methyltransferase deficiency skos:exactMatch DOID:0061004 poor metabolism of thiopurines 1 semapv:UnspecifiedMatching MONDO:0012503 thiopurine S-methyltransferase deficiency skos:exactMatch DOID:0080172 poor metabolism of thiopurines semapv:UnspecifiedMatching MONDO:0012503 thiopurine S-methyltransferase deficiency skos:exactMatch MEDGEN:83352 semapv:UnspecifiedMatching MONDO:0012503 thiopurine S-methyltransferase deficiency skos:exactMatch NCIT:C4389 Thiopurine Methyltransferase Deficiency semapv:UnspecifiedMatching MONDO:0012503 thiopurine S-methyltransferase deficiency skos:exactMatch OMIM:610460 thiopurines, poor metabolism of, 1 semapv:UnspecifiedMatching MONDO:0012503 thiopurine S-methyltransferase deficiency skos:exactMatch SCTID:238012003 semapv:UnspecifiedMatching MONDO:0012503 thiopurine S-methyltransferase deficiency skos:exactMatch UMLS:C0342801 semapv:UnspecifiedMatching MONDO:0012503 thiopurine S-methyltransferase deficiency skos:exactMatch icd11.foundation:1916778396 Thiopurine S-methyltransferase deficiency semapv:UnspecifiedMatching MONDO:0012503 thiopurine S-methyltransferase deficiency skos:exactMatch mesh:C536512 semapv:UnspecifiedMatching MONDO:0012504 camptodactyly-tall stature-scoliosis-hearing loss syndrome skos:exactMatch DOID:0111160 camptodactyly-tall stature-scoliosis-hearing loss syndrome semapv:UnspecifiedMatching MONDO:0012504 camptodactyly-tall stature-scoliosis-hearing loss syndrome skos:exactMatch MEDGEN:355844 semapv:UnspecifiedMatching MONDO:0012504 camptodactyly-tall stature-scoliosis-hearing loss syndrome skos:exactMatch OMIM:610474 camptodactyly, tall stature, and hearing loss syndrome semapv:UnspecifiedMatching MONDO:0012504 camptodactyly-tall stature-scoliosis-hearing loss syndrome skos:exactMatch Orphanet:85164 Camptodactyly-tall stature-scoliosis-hearing loss syndrome semapv:UnspecifiedMatching MONDO:0012504 camptodactyly-tall stature-scoliosis-hearing loss syndrome skos:exactMatch UMLS:C1864852 semapv:UnspecifiedMatching MONDO:0012504 camptodactyly-tall stature-scoliosis-hearing loss syndrome skos:exactMatch mesh:C537975 semapv:UnspecifiedMatching MONDO:0012505 pigmented nodular adrenocortical disease, primary, 2 skos:exactMatch DOID:0070547 primary pigmented nodular adrenocortical disease 2 semapv:UnspecifiedMatching MONDO:0012505 pigmented nodular adrenocortical disease, primary, 2 skos:exactMatch MEDGEN:355843 semapv:UnspecifiedMatching MONDO:0012505 pigmented nodular adrenocortical disease, primary, 2 skos:exactMatch OMIM:610475 pigmented nodular adrenocortical disease, primary, 2 semapv:UnspecifiedMatching MONDO:0012505 pigmented nodular adrenocortical disease, primary, 2 skos:exactMatch UMLS:C1864851 semapv:UnspecifiedMatching MONDO:0012505 pigmented nodular adrenocortical disease, primary, 2 skos:exactMatch mesh:C566472 semapv:UnspecifiedMatching MONDO:0012506 arrhythmogenic right ventricular dysplasia 11 skos:exactMatch DOID:0110082 arrhythmogenic right ventricular dysplasia 11 semapv:UnspecifiedMatching MONDO:0012506 arrhythmogenic right ventricular dysplasia 11 skos:exactMatch MEDGEN:351237 semapv:UnspecifiedMatching MONDO:0012506 arrhythmogenic right ventricular dysplasia 11 skos:exactMatch OMIM:610476 arrhythmogenic right ventricular dysplasia, familial, 11 semapv:UnspecifiedMatching MONDO:0012506 arrhythmogenic right ventricular dysplasia 11 skos:exactMatch UMLS:C1864850 semapv:UnspecifiedMatching MONDO:0012506 arrhythmogenic right ventricular dysplasia 11 skos:exactMatch mesh:C566471 semapv:UnspecifiedMatching MONDO:0012507 retinal cone dystrophy 4 skos:exactMatch DOID:0081023 retinal cone dystrophy 4 semapv:UnspecifiedMatching MONDO:0012507 retinal cone dystrophy 4 skos:exactMatch MEDGEN:355308 semapv:UnspecifiedMatching MONDO:0012507 retinal cone dystrophy 4 skos:exactMatch OMIM:610478 retinal cone dystrophy 4 semapv:UnspecifiedMatching MONDO:0012507 retinal cone dystrophy 4 skos:exactMatch UMLS:C1864849 semapv:UnspecifiedMatching MONDO:0012507 retinal cone dystrophy 4 skos:exactMatch mesh:C566470 semapv:UnspecifiedMatching MONDO:0012508 agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome skos:exactMatch MEDGEN:351236 semapv:UnspecifiedMatching MONDO:0012508 agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome skos:exactMatch OMIM:610483 agammaglobulinemia, microcephaly, and severe dermatitis semapv:UnspecifiedMatching MONDO:0012508 agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome skos:exactMatch Orphanet:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome semapv:UnspecifiedMatching MONDO:0012508 agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome skos:exactMatch SCTID:722281001 semapv:UnspecifiedMatching MONDO:0012508 agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome skos:exactMatch UMLS:C1864848 semapv:UnspecifiedMatching MONDO:0012508 agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome skos:exactMatch mesh:C538055 semapv:UnspecifiedMatching MONDO:0012509 pigmented nodular adrenocortical disease, primary, 1 skos:exactMatch DOID:0070546 primary pigmented nodular adrenocortical disease 1 semapv:UnspecifiedMatching MONDO:0012509 pigmented nodular adrenocortical disease, primary, 1 skos:exactMatch MEDGEN:400627 semapv:UnspecifiedMatching MONDO:0012509 pigmented nodular adrenocortical disease, primary, 1 skos:exactMatch OMIM:610489 pigmented nodular adrenocortical disease, primary, 1 semapv:UnspecifiedMatching MONDO:0012509 pigmented nodular adrenocortical disease, primary, 1 skos:exactMatch UMLS:C1864846 semapv:UnspecifiedMatching MONDO:0012509 pigmented nodular adrenocortical disease, primary, 1 skos:exactMatch mesh:C566469 semapv:UnspecifiedMatching MONDO:0012510 combined oxidative phosphorylation defect type 2 skos:exactMatch DOID:0111483 combined oxidative phosphorylation deficiency 2 semapv:UnspecifiedMatching MONDO:0012510 combined oxidative phosphorylation defect type 2 skos:exactMatch MEDGEN:400626 semapv:UnspecifiedMatching MONDO:0012510 combined oxidative phosphorylation defect type 2 skos:exactMatch OMIM:610498 combined oxidative phosphorylation deficiency 2 semapv:UnspecifiedMatching MONDO:0012510 combined oxidative phosphorylation defect type 2 skos:exactMatch Orphanet:254920 Combined oxidative phosphorylation defect type 2 semapv:UnspecifiedMatching MONDO:0012510 combined oxidative phosphorylation defect type 2 skos:exactMatch SCTID:764943000 semapv:UnspecifiedMatching MONDO:0012510 combined oxidative phosphorylation defect type 2 skos:exactMatch UMLS:C1864843 semapv:UnspecifiedMatching MONDO:0012510 combined oxidative phosphorylation defect type 2 skos:exactMatch mesh:C566468 semapv:UnspecifiedMatching MONDO:0012511 preterm premature rupture of the membranes skos:exactMatch DOID:0111144 preterm premature rupture of the membranes semapv:UnspecifiedMatching MONDO:0012511 preterm premature rupture of the membranes skos:exactMatch MEDGEN:147582 semapv:UnspecifiedMatching MONDO:0012511 preterm premature rupture of the membranes skos:exactMatch NCIT:C92862 Preterm Premature Rupture of Membrane semapv:UnspecifiedMatching MONDO:0012511 preterm premature rupture of the membranes skos:exactMatch OMIM:610504 preterm premature rupture of the membranes semapv:UnspecifiedMatching MONDO:0012511 preterm premature rupture of the membranes skos:exactMatch SCTID:312974005 semapv:UnspecifiedMatching MONDO:0012511 preterm premature rupture of the membranes skos:exactMatch UMLS:C0729264 semapv:UnspecifiedMatching MONDO:0012511 preterm premature rupture of the membranes skos:exactMatch mesh:C563032 semapv:UnspecifiedMatching MONDO:0012512 fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 skos:exactMatch DOID:0111486 combined oxidative phosphorylation deficiency 3 semapv:UnspecifiedMatching MONDO:0012512 fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 skos:exactMatch MEDGEN:355842 semapv:UnspecifiedMatching MONDO:0012512 fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 skos:exactMatch OMIM:610505 combined oxidative phosphorylation deficiency 3 semapv:UnspecifiedMatching MONDO:0012512 fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 skos:exactMatch Orphanet:168566 Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 semapv:UnspecifiedMatching MONDO:0012512 fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 skos:exactMatch SCTID:720951008 semapv:UnspecifiedMatching MONDO:0012512 fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 skos:exactMatch UMLS:C1864840 semapv:UnspecifiedMatching MONDO:0012512 fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 skos:exactMatch mesh:C566467 semapv:UnspecifiedMatching MONDO:0012513 maturity-onset diabetes of the young type 7 skos:exactMatch DOID:0111106 maturity-onset diabetes of the young type 7 semapv:UnspecifiedMatching MONDO:0012513 maturity-onset diabetes of the young type 7 skos:exactMatch MEDGEN:351232 semapv:UnspecifiedMatching MONDO:0012513 maturity-onset diabetes of the young type 7 skos:exactMatch OMIM:610508 maturity-onset diabetes of the young, type 7 semapv:UnspecifiedMatching MONDO:0012513 maturity-onset diabetes of the young type 7 skos:exactMatch SCTID:609574004 semapv:UnspecifiedMatching MONDO:0012513 maturity-onset diabetes of the young type 7 skos:exactMatch UMLS:C1864839 semapv:UnspecifiedMatching MONDO:0012513 maturity-onset diabetes of the young type 7 skos:exactMatch mesh:C566466 semapv:UnspecifiedMatching MONDO:0012514 hypomyelinating leukodystrophy 5 skos:exactMatch DOID:0060793 hypomyelinating leukodystrophy 5 semapv:UnspecifiedMatching MONDO:0012514 hypomyelinating leukodystrophy 5 skos:exactMatch MEDGEN:501134 semapv:UnspecifiedMatching MONDO:0012514 hypomyelinating leukodystrophy 5 skos:exactMatch OMIM:610532 leukodystrophy, hypomyelinating, 5 semapv:UnspecifiedMatching MONDO:0012514 hypomyelinating leukodystrophy 5 skos:exactMatch Orphanet:85163 Hypomyelination-congenital cataract syndrome semapv:UnspecifiedMatching MONDO:0012514 hypomyelinating leukodystrophy 5 skos:exactMatch SCTID:702379005 semapv:UnspecifiedMatching MONDO:0012514 hypomyelinating leukodystrophy 5 skos:exactMatch UMLS:C1864663 semapv:UnspecifiedMatching MONDO:0012514 hypomyelinating leukodystrophy 5 skos:exactMatch mesh:C567166 semapv:UnspecifiedMatching MONDO:0012515 glaucoma 1, open angle, M skos:exactMatch MEDGEN:400584 semapv:UnspecifiedMatching MONDO:0012515 glaucoma 1, open angle, M skos:exactMatch OMIM:610535 glaucoma 1, open angle, m semapv:UnspecifiedMatching MONDO:0012515 glaucoma 1, open angle, M skos:exactMatch UMLS:C1864653 semapv:UnspecifiedMatching MONDO:0012515 glaucoma 1, open angle, M skos:exactMatch mesh:C566436 semapv:UnspecifiedMatching MONDO:0012516 mandibulofacial dysostosis-microcephaly syndrome skos:exactMatch DOID:0080196 mandibulofacial dysostosis, Guion-Almeida type semapv:UnspecifiedMatching MONDO:0012516 mandibulofacial dysostosis-microcephaly syndrome skos:exactMatch MEDGEN:355264 semapv:UnspecifiedMatching MONDO:0012516 mandibulofacial dysostosis-microcephaly syndrome skos:exactMatch OMIM:610536 mandibulofacial dysostosis, guion-almeida type semapv:UnspecifiedMatching MONDO:0012516 mandibulofacial dysostosis-microcephaly syndrome skos:exactMatch Orphanet:79113 Mandibulofacial dysostosis-microcephaly syndrome semapv:UnspecifiedMatching MONDO:0012516 mandibulofacial dysostosis-microcephaly syndrome skos:exactMatch SCTID:711543008 semapv:UnspecifiedMatching MONDO:0012516 mandibulofacial dysostosis-microcephaly syndrome skos:exactMatch UMLS:C1864652 semapv:UnspecifiedMatching MONDO:0012516 mandibulofacial dysostosis-microcephaly syndrome skos:exactMatch mesh:C537405 semapv:UnspecifiedMatching MONDO:0012517 Gaucher disease due to saposin C deficiency skos:exactMatch DOID:0110961 atypical Gaucher's disease due to saposin c deficiency semapv:UnspecifiedMatching MONDO:0012517 Gaucher disease due to saposin C deficiency skos:exactMatch MEDGEN:350479 semapv:UnspecifiedMatching MONDO:0012517 Gaucher disease due to saposin C deficiency skos:exactMatch OMIM:610539 gaucher disease, atypical, due to saposin c deficiency semapv:UnspecifiedMatching MONDO:0012517 Gaucher disease due to saposin C deficiency skos:exactMatch Orphanet:309252 Atypical Gaucher disease due to saposin C deficiency semapv:UnspecifiedMatching MONDO:0012517 Gaucher disease due to saposin C deficiency skos:exactMatch SCTID:1156792000 semapv:UnspecifiedMatching MONDO:0012517 Gaucher disease due to saposin C deficiency skos:exactMatch UMLS:C1864651 semapv:UnspecifiedMatching MONDO:0012517 Gaucher disease due to saposin C deficiency skos:exactMatch mesh:C566435 semapv:UnspecifiedMatching MONDO:0012518 congenital myasthenic syndrome 12 skos:exactMatch DOID:0110660 congenital myasthenic syndrome 12 semapv:UnspecifiedMatching MONDO:0012518 congenital myasthenic syndrome 12 skos:exactMatch MEDGEN:765249 semapv:UnspecifiedMatching MONDO:0012518 congenital myasthenic syndrome 12 skos:exactMatch NCIT:C168997 Congenital Myasthenic Syndrome 12 semapv:UnspecifiedMatching MONDO:0012518 congenital myasthenic syndrome 12 skos:exactMatch OMIM:610542 myasthenic syndrome, congenital, 12 semapv:UnspecifiedMatching MONDO:0012518 congenital myasthenic syndrome 12 skos:exactMatch UMLS:C3552335 semapv:UnspecifiedMatching MONDO:0012519 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion skos:exactMatch MEDGEN:350477 semapv:UnspecifiedMatching MONDO:0012519 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion skos:exactMatch OMIM:610543 chromosome 16p13.3 deletion syndrome, proximal semapv:UnspecifiedMatching MONDO:0012519 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion skos:exactMatch Orphanet:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion semapv:UnspecifiedMatching MONDO:0012519 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion skos:exactMatch UMLS:C1864648 semapv:UnspecifiedMatching MONDO:0012520 insulin-resistance syndrome type A skos:exactMatch MEDGEN:501111 semapv:UnspecifiedMatching MONDO:0012520 insulin-resistance syndrome type A skos:exactMatch NCIT:C131836 Insulin Resistant Diabetes Mellitus with Acanthosis Nigricans and Hyperandrogenism semapv:UnspecifiedMatching MONDO:0012520 insulin-resistance syndrome type A skos:exactMatch OMIM:610549 diabetes mellitus, insulin-resistant, with acanthosis nigricans semapv:UnspecifiedMatching MONDO:0012520 insulin-resistance syndrome type A skos:exactMatch Orphanet:2297 Insulin-resistance syndrome type A semapv:UnspecifiedMatching MONDO:0012520 insulin-resistance syndrome type A skos:exactMatch UMLS:C0342278 semapv:UnspecifiedMatching MONDO:0012520 insulin-resistance syndrome type A skos:exactMatch icd11.foundation:343459534 Insulin-resistance syndrome type A semapv:UnspecifiedMatching MONDO:0012520 insulin-resistance syndrome type A skos:exactMatch mesh:C562710 semapv:UnspecifiedMatching MONDO:0012521 herpes simplex encephalitis skos:exactMatch MEDGEN:75794 semapv:UnspecifiedMatching MONDO:0012521 herpes simplex encephalitis skos:exactMatch NCIT:C84762 Herpes Simplex Encephalitis semapv:UnspecifiedMatching MONDO:0012521 herpes simplex encephalitis skos:exactMatch Orphanet:1930 Herpes simplex virus encephalitis semapv:UnspecifiedMatching MONDO:0012521 herpes simplex encephalitis skos:exactMatch UMLS:C0276226 semapv:UnspecifiedMatching MONDO:0012521 herpes simplex encephalitis skos:exactMatch icd11.foundation:320069644 Encephalitis due to herpes simplex virus semapv:UnspecifiedMatching MONDO:0012521 herpes simplex encephalitis skos:exactMatch mesh:D020803 semapv:UnspecifiedMatching MONDO:0012522 diabetes mellitus, transient neonatal, 3 skos:exactMatch DOID:0061172 transient neonatal diabetes mellitus 3 semapv:UnspecifiedMatching MONDO:0012522 diabetes mellitus, transient neonatal, 3 skos:exactMatch MEDGEN:351177 semapv:UnspecifiedMatching MONDO:0012522 diabetes mellitus, transient neonatal, 3 skos:exactMatch OMIM:610582 diabetes mellitus, transient neonatal, 3 semapv:UnspecifiedMatching MONDO:0012522 diabetes mellitus, transient neonatal, 3 skos:exactMatch SCTID:609581006 semapv:UnspecifiedMatching MONDO:0012522 diabetes mellitus, transient neonatal, 3 skos:exactMatch UMLS:C1864623 semapv:UnspecifiedMatching MONDO:0012522 diabetes mellitus, transient neonatal, 3 skos:exactMatch mesh:C566432 semapv:UnspecifiedMatching MONDO:0012523 retinitis pigmentosa 36 skos:exactMatch DOID:0110405 retinitis pigmentosa 36 semapv:UnspecifiedMatching MONDO:0012523 retinitis pigmentosa 36 skos:exactMatch MEDGEN:351175 semapv:UnspecifiedMatching MONDO:0012523 retinitis pigmentosa 36 skos:exactMatch OMIM:610599 retinitis pigmentosa 36 semapv:UnspecifiedMatching MONDO:0012523 retinitis pigmentosa 36 skos:exactMatch UMLS:C1864621 semapv:UnspecifiedMatching MONDO:0012523 retinitis pigmentosa 36 skos:exactMatch mesh:C566431 semapv:UnspecifiedMatching MONDO:0012524 corticosterone methyloxidase type 2 deficiency skos:exactMatch MEDGEN:483046 semapv:UnspecifiedMatching MONDO:0012524 corticosterone methyloxidase type 2 deficiency skos:exactMatch OMIM:610600 corticosterone methyloxidase type 2 deficiency semapv:UnspecifiedMatching MONDO:0012524 corticosterone methyloxidase type 2 deficiency skos:exactMatch UMLS:C3463917 semapv:UnspecifiedMatching MONDO:0012525 Leber congenital amaurosis 12 skos:exactMatch DOID:0110080 Leber congenital amaurosis 12 semapv:UnspecifiedMatching MONDO:0012525 Leber congenital amaurosis 12 skos:exactMatch MEDGEN:347535 semapv:UnspecifiedMatching MONDO:0012525 Leber congenital amaurosis 12 skos:exactMatch OMIM:610612 leber congenital amaurosis 12 semapv:UnspecifiedMatching MONDO:0012525 Leber congenital amaurosis 12 skos:exactMatch UMLS:C1857743 semapv:UnspecifiedMatching MONDO:0012525 Leber congenital amaurosis 12 skos:exactMatch mesh:C565697 semapv:UnspecifiedMatching MONDO:0012526 hereditary angioedema type 3 skos:exactMatch DOID:0080940 hereditary angioedema type III semapv:UnspecifiedMatching MONDO:0012526 hereditary angioedema type 3 skos:exactMatch MEDGEN:346653 semapv:UnspecifiedMatching MONDO:0012526 hereditary angioedema type 3 skos:exactMatch OMIM:610618 angioedema, hereditary, 3 semapv:UnspecifiedMatching MONDO:0012526 hereditary angioedema type 3 skos:exactMatch Orphanet:100054 F12-related hereditary angioedema with normal C1Inh semapv:UnspecifiedMatching MONDO:0012526 hereditary angioedema type 3 skos:exactMatch SCTID:427167008 semapv:UnspecifiedMatching MONDO:0012526 hereditary angioedema type 3 skos:exactMatch UMLS:C1857728 semapv:UnspecifiedMatching MONDO:0012526 hereditary angioedema type 3 skos:exactMatch mesh:D056828 semapv:UnspecifiedMatching MONDO:0012527 cataract 11 multiple types skos:exactMatch DOID:0110249 cataract 11 multiple types semapv:UnspecifiedMatching MONDO:0012527 cataract 11 multiple types skos:exactMatch MEDGEN:351162 semapv:UnspecifiedMatching MONDO:0012527 cataract 11 multiple types skos:exactMatch OMIM:610623 cataract 11, multiple types semapv:UnspecifiedMatching MONDO:0012527 cataract 11 multiple types skos:exactMatch UMLS:C1864567 semapv:UnspecifiedMatching MONDO:0012527 cataract 11 multiple types skos:exactMatch mesh:C535344 semapv:UnspecifiedMatching MONDO:0012528 hypogonadotropic hypogonadism 4 with or without anosmia skos:exactMatch DOID:0090077 hypogonadotropic hypogonadism 4 with or without anosmia semapv:UnspecifiedMatching MONDO:0012528 hypogonadotropic hypogonadism 4 with or without anosmia skos:exactMatch MEDGEN:765257 semapv:UnspecifiedMatching MONDO:0012528 hypogonadotropic hypogonadism 4 with or without anosmia skos:exactMatch OMIM:610628 hypogonadotropic hypogonadism 4 with or without anosmia semapv:UnspecifiedMatching MONDO:0012528 hypogonadotropic hypogonadism 4 with or without anosmia skos:exactMatch UMLS:C3552343 semapv:UnspecifiedMatching MONDO:0012528 hypogonadotropic hypogonadism 4 with or without anosmia skos:exactMatch mesh:C565696 semapv:UnspecifiedMatching MONDO:0012529 Diamond-Blackfan anemia 3 skos:exactMatch DOID:0111887 Diamond-blackfan anemia 3 semapv:UnspecifiedMatching MONDO:0012529 Diamond-Blackfan anemia 3 skos:exactMatch MEDGEN:387892 semapv:UnspecifiedMatching MONDO:0012529 Diamond-Blackfan anemia 3 skos:exactMatch NCIT:C176912 Diamond-Blackfan Anemia 3 semapv:UnspecifiedMatching MONDO:0012529 Diamond-Blackfan anemia 3 skos:exactMatch OMIM:610629 diamond-blackfan anemia 3 semapv:UnspecifiedMatching MONDO:0012529 Diamond-Blackfan anemia 3 skos:exactMatch UMLS:C1857719 semapv:UnspecifiedMatching MONDO:0012529 Diamond-Blackfan anemia 3 skos:exactMatch mesh:C536355 semapv:UnspecifiedMatching MONDO:0012530 palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome skos:exactMatch MEDGEN:461281 semapv:UnspecifiedMatching MONDO:0012530 palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome skos:exactMatch OMIM:610644 palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal semapv:UnspecifiedMatching MONDO:0012530 palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome skos:exactMatch Orphanet:85112 Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome semapv:UnspecifiedMatching MONDO:0012530 palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome skos:exactMatch UMLS:C3149931 semapv:UnspecifiedMatching MONDO:0012530 palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome skos:exactMatch mesh:C567165 semapv:UnspecifiedMatching MONDO:0012531 xeroderma pigmentosum group B skos:exactMatch DOID:0110850 xeroderma pigmentosum group B semapv:UnspecifiedMatching MONDO:0012531 xeroderma pigmentosum group B skos:exactMatch MEDGEN:78643 semapv:UnspecifiedMatching MONDO:0012531 xeroderma pigmentosum group B skos:exactMatch NCIT:C3966 Xeroderma Pigmentosum, Complementation Group B semapv:UnspecifiedMatching MONDO:0012531 xeroderma pigmentosum group B skos:exactMatch OMIM:610651 xeroderma pigmentosum, complementation group B semapv:UnspecifiedMatching MONDO:0012531 xeroderma pigmentosum group B skos:exactMatch SCTID:1073003 semapv:UnspecifiedMatching MONDO:0012531 xeroderma pigmentosum group B skos:exactMatch UMLS:C0268136 semapv:UnspecifiedMatching MONDO:0012531 xeroderma pigmentosum group B skos:exactMatch mesh:C562590 semapv:UnspecifiedMatching MONDO:0012532 hereditary hemorrhagic telangiectasia type 4 skos:exactMatch MEDGEN:341824 semapv:UnspecifiedMatching MONDO:0012532 hereditary hemorrhagic telangiectasia type 4 skos:exactMatch OMIM:610655 telangiectasia, hereditary hemorrhagic, type 4 semapv:UnspecifiedMatching MONDO:0012532 hereditary hemorrhagic telangiectasia type 4 skos:exactMatch UMLS:C1857688 semapv:UnspecifiedMatching MONDO:0012532 hereditary hemorrhagic telangiectasia type 4 skos:exactMatch mesh:C565691 semapv:UnspecifiedMatching MONDO:0012533 autism, susceptibility to, 7 skos:exactMatch MEDGEN:410155 semapv:UnspecifiedMatching MONDO:0012533 autism, susceptibility to, 7 skos:exactMatch OMIM:610676 autism, susceptibility to, 7 semapv:UnspecifiedMatching MONDO:0012533 autism, susceptibility to, 7 skos:exactMatch UMLS:C1970807 semapv:UnspecifiedMatching MONDO:0012534 combined oxidative phosphorylation defect type 4 skos:exactMatch DOID:0111494 combined oxidative phosphorylation deficiency 4 semapv:UnspecifiedMatching MONDO:0012534 combined oxidative phosphorylation defect type 4 skos:exactMatch MEDGEN:387884 semapv:UnspecifiedMatching MONDO:0012534 combined oxidative phosphorylation defect type 4 skos:exactMatch OMIM:610678 combined oxidative phosphorylation deficiency 4 semapv:UnspecifiedMatching MONDO:0012534 combined oxidative phosphorylation defect type 4 skos:exactMatch Orphanet:254925 Combined oxidative phosphorylation defect type 4 semapv:UnspecifiedMatching MONDO:0012534 combined oxidative phosphorylation defect type 4 skos:exactMatch SCTID:766876004 semapv:UnspecifiedMatching MONDO:0012534 combined oxidative phosphorylation defect type 4 skos:exactMatch UMLS:C1857682 semapv:UnspecifiedMatching MONDO:0012534 combined oxidative phosphorylation defect type 4 skos:exactMatch mesh:C565690 semapv:UnspecifiedMatching MONDO:0012535 holoprosencephaly, recurrent infections, and monocytosis skos:exactMatch MEDGEN:343987 semapv:UnspecifiedMatching MONDO:0012535 holoprosencephaly, recurrent infections, and monocytosis skos:exactMatch OMIM:610680 holoprosencephaly, recurrent infections, and monocytosis semapv:UnspecifiedMatching MONDO:0012535 holoprosencephaly, recurrent infections, and monocytosis skos:exactMatch UMLS:C1853187 semapv:UnspecifiedMatching MONDO:0012535 holoprosencephaly, recurrent infections, and monocytosis skos:exactMatch mesh:C538328 semapv:UnspecifiedMatching MONDO:0012536 osteogenesis imperfecta type 7 skos:exactMatch DOID:0110337 osteogenesis imperfecta type 7 semapv:UnspecifiedMatching MONDO:0012536 osteogenesis imperfecta type 7 skos:exactMatch MEDGEN:343981 semapv:UnspecifiedMatching MONDO:0012536 osteogenesis imperfecta type 7 skos:exactMatch OMIM:610682 osteogenesis imperfecta, type 7 semapv:UnspecifiedMatching MONDO:0012536 osteogenesis imperfecta type 7 skos:exactMatch SCTID:254111008 semapv:UnspecifiedMatching MONDO:0012536 osteogenesis imperfecta type 7 skos:exactMatch UMLS:C1853162 semapv:UnspecifiedMatching MONDO:0012537 split-hand/foot malformation with long bone deficiency 2 skos:exactMatch MEDGEN:377841 semapv:UnspecifiedMatching MONDO:0012537 split-hand/foot malformation with long bone deficiency 2 skos:exactMatch OMIM:610685 split-hand/foot malformation with long bone deficiency 2 semapv:UnspecifiedMatching MONDO:0012537 split-hand/foot malformation with long bone deficiency 2 skos:exactMatch UMLS:C1853156 semapv:UnspecifiedMatching MONDO:0012537 split-hand/foot malformation with long bone deficiency 2 skos:exactMatch mesh:C565199 semapv:UnspecifiedMatching MONDO:0012538 nemaline myopathy 7 skos:exactMatch DOID:0110934 nemaline myopathy 7 semapv:UnspecifiedMatching MONDO:0012538 nemaline myopathy 7 skos:exactMatch MEDGEN:343979 semapv:UnspecifiedMatching MONDO:0012538 nemaline myopathy 7 skos:exactMatch OMIM:610687 nemaline myopathy 7 semapv:UnspecifiedMatching MONDO:0012538 nemaline myopathy 7 skos:exactMatch UMLS:C1853154 semapv:UnspecifiedMatching MONDO:0012538 nemaline myopathy 7 skos:exactMatch mesh:C565198 semapv:UnspecifiedMatching MONDO:0012539 Joubert syndrome 6 skos:exactMatch DOID:0111001 Joubert syndrome 6 semapv:UnspecifiedMatching MONDO:0012539 Joubert syndrome 6 skos:exactMatch MEDGEN:342805 semapv:UnspecifiedMatching MONDO:0012539 Joubert syndrome 6 skos:exactMatch OMIM:610688 joubert syndrome 6 semapv:UnspecifiedMatching MONDO:0012539 Joubert syndrome 6 skos:exactMatch UMLS:C1853153 semapv:UnspecifiedMatching MONDO:0012539 Joubert syndrome 6 skos:exactMatch mesh:C537689 semapv:UnspecifiedMatching MONDO:0012540 age related macular degeneration 4 skos:exactMatch DOID:0110017 age related macular degeneration 4 semapv:UnspecifiedMatching MONDO:0012540 age related macular degeneration 4 skos:exactMatch MEDGEN:339914 semapv:UnspecifiedMatching MONDO:0012540 age related macular degeneration 4 skos:exactMatch OMIM:610698 macular degeneration, age-related, 4 semapv:UnspecifiedMatching MONDO:0012540 age related macular degeneration 4 skos:exactMatch UMLS:C1853147 semapv:UnspecifiedMatching MONDO:0012540 age related macular degeneration 4 skos:exactMatch mesh:C565196 semapv:UnspecifiedMatching MONDO:0012541 deafness with labyrinthine aplasia, microtia, and microdontia skos:exactMatch MEDGEN:342803 semapv:UnspecifiedMatching MONDO:0012541 deafness with labyrinthine aplasia, microtia, and microdontia skos:exactMatch OMIM:610706 deafness, congenital, with inner ear agenesis, microtia, and microdontia semapv:UnspecifiedMatching MONDO:0012541 deafness with labyrinthine aplasia, microtia, and microdontia skos:exactMatch Orphanet:90024 Deafness with labyrinthine aplasia, microtia, and microdontia semapv:UnspecifiedMatching MONDO:0012541 deafness with labyrinthine aplasia, microtia, and microdontia skos:exactMatch SCTID:702360007 semapv:UnspecifiedMatching MONDO:0012541 deafness with labyrinthine aplasia, microtia, and microdontia skos:exactMatch UMLS:C1853144 semapv:UnspecifiedMatching MONDO:0012541 deafness with labyrinthine aplasia, microtia, and microdontia skos:exactMatch mesh:C565195 semapv:UnspecifiedMatching MONDO:0012542 psoriasis 8, susceptibility to skos:exactMatch DOID:0111288 psoriasis 8 semapv:UnspecifiedMatching MONDO:0012542 psoriasis 8, susceptibility to skos:exactMatch MEDGEN:377839 semapv:UnspecifiedMatching MONDO:0012542 psoriasis 8, susceptibility to skos:exactMatch OMIM:610707 psoriasis 8, susceptibility to semapv:UnspecifiedMatching MONDO:0012542 psoriasis 8, susceptibility to skos:exactMatch UMLS:C1853143 semapv:UnspecifiedMatching MONDO:0012543 optic atrophy 5 skos:exactMatch DOID:0111438 optic atrophy 5 semapv:UnspecifiedMatching MONDO:0012543 optic atrophy 5 skos:exactMatch MEDGEN:377837 semapv:UnspecifiedMatching MONDO:0012543 optic atrophy 5 skos:exactMatch OMIM:610708 optic atrophy 5 semapv:UnspecifiedMatching MONDO:0012543 optic atrophy 5 skos:exactMatch UMLS:C1853139 semapv:UnspecifiedMatching MONDO:0012543 optic atrophy 5 skos:exactMatch mesh:C537126 semapv:UnspecifiedMatching MONDO:0012544 brachydactyly-syndactyly syndrome skos:exactMatch DOID:0050689 brachydactyly-syndactyly syndrome semapv:UnspecifiedMatching MONDO:0012544 brachydactyly-syndactyly syndrome skos:exactMatch MEDGEN:377836 semapv:UnspecifiedMatching MONDO:0012544 brachydactyly-syndactyly syndrome skos:exactMatch OMIM:610713 brachydactyly-syndactyly syndrome semapv:UnspecifiedMatching MONDO:0012544 brachydactyly-syndactyly syndrome skos:exactMatch Orphanet:93409 Brachydactyly-syndactyly, Zhao type semapv:UnspecifiedMatching MONDO:0012544 brachydactyly-syndactyly syndrome skos:exactMatch UMLS:C1853137 semapv:UnspecifiedMatching MONDO:0012544 brachydactyly-syndactyly syndrome skos:exactMatch mesh:C565193 semapv:UnspecifiedMatching MONDO:0012545 neutral lipid storage myopathy skos:exactMatch MEDGEN:339913 semapv:UnspecifiedMatching MONDO:0012545 neutral lipid storage myopathy skos:exactMatch OMIM:610717 neutral lipid storage disease with myopathy semapv:UnspecifiedMatching MONDO:0012545 neutral lipid storage myopathy skos:exactMatch Orphanet:98908 Neutral lipid storage disease with myopathy semapv:UnspecifiedMatching MONDO:0012545 neutral lipid storage myopathy skos:exactMatch SCTID:699315005 semapv:UnspecifiedMatching MONDO:0012545 neutral lipid storage myopathy skos:exactMatch UMLS:C1853136 semapv:UnspecifiedMatching MONDO:0012545 neutral lipid storage myopathy skos:exactMatch icd11.foundation:1512138529 Neutral lipid storage myopathy semapv:UnspecifiedMatching MONDO:0012546 nephrotic syndrome, type 3 skos:exactMatch DOID:0080382 nephrotic syndrome type 3 semapv:UnspecifiedMatching MONDO:0012546 nephrotic syndrome, type 3 skos:exactMatch MEDGEN:377831 semapv:UnspecifiedMatching MONDO:0012546 nephrotic syndrome, type 3 skos:exactMatch OMIM:610725 nephrotic syndrome, type 3 semapv:UnspecifiedMatching MONDO:0012546 nephrotic syndrome, type 3 skos:exactMatch UMLS:C1853124 semapv:UnspecifiedMatching MONDO:0012547 Noonan syndrome 4 skos:exactMatch DOID:0060582 Noonan syndrome 4 semapv:UnspecifiedMatching MONDO:0012547 Noonan syndrome 4 skos:exactMatch MEDGEN:339908 semapv:UnspecifiedMatching MONDO:0012547 Noonan syndrome 4 skos:exactMatch NCIT:C176932 Noonan Syndrome 4 semapv:UnspecifiedMatching MONDO:0012547 Noonan syndrome 4 skos:exactMatch OMIM:610733 noonan syndrome 4 semapv:UnspecifiedMatching MONDO:0012547 Noonan syndrome 4 skos:exactMatch UMLS:C1853120 semapv:UnspecifiedMatching MONDO:0012547 Noonan syndrome 4 skos:exactMatch mesh:C548082 semapv:UnspecifiedMatching MONDO:0012548 Kostmann syndrome skos:exactMatch DOID:0112133 severe congenital neutropenia 3 semapv:UnspecifiedMatching MONDO:0012548 Kostmann syndrome skos:exactMatch MEDGEN:1713491 semapv:UnspecifiedMatching MONDO:0012548 Kostmann syndrome skos:exactMatch NCIT:C166153 Severe Congenital Neutropenia Type 3, Autosomal Recessive semapv:UnspecifiedMatching MONDO:0012548 Kostmann syndrome skos:exactMatch OMIM:610738 neutropenia, severe congenital, 3, autosomal recessive semapv:UnspecifiedMatching MONDO:0012548 Kostmann syndrome skos:exactMatch Orphanet:99749 Kostmann syndrome semapv:UnspecifiedMatching MONDO:0012548 Kostmann syndrome skos:exactMatch UMLS:C5235141 semapv:UnspecifiedMatching MONDO:0012548 Kostmann syndrome skos:exactMatch icd11.foundation:421553273 Kostmann syndrome semapv:UnspecifiedMatching MONDO:0012548 Kostmann syndrome skos:exactMatch mesh:C537592 semapv:UnspecifiedMatching MONDO:0012549 autosomal recessive ataxia, Beauce type skos:exactMatch DOID:0111618 autosomal recessive spinocerebellar ataxia 8 semapv:UnspecifiedMatching MONDO:0012549 autosomal recessive ataxia, Beauce type skos:exactMatch MEDGEN:343973 semapv:UnspecifiedMatching MONDO:0012549 autosomal recessive ataxia, Beauce type skos:exactMatch OMIM:610743 spinocerebellar ataxia, autosomal recessive 8 semapv:UnspecifiedMatching MONDO:0012549 autosomal recessive ataxia, Beauce type skos:exactMatch Orphanet:88644 Autosomal recessive ataxia, Beauce type semapv:UnspecifiedMatching MONDO:0012549 autosomal recessive ataxia, Beauce type skos:exactMatch UMLS:C1853116 semapv:UnspecifiedMatching MONDO:0012550 iris pattern skos:exactMatch MEDGEN:339907 semapv:UnspecifiedMatching MONDO:0012550 iris pattern skos:exactMatch OMIM:610744 iris pattern semapv:UnspecifiedMatching MONDO:0012550 iris pattern skos:exactMatch UMLS:C1853115 semapv:UnspecifiedMatching MONDO:0012551 alopecia areata 2 skos:exactMatch MEDGEN:343971 semapv:UnspecifiedMatching MONDO:0012551 alopecia areata 2 skos:exactMatch OMIM:610753 alopecia areata 2 semapv:UnspecifiedMatching MONDO:0012551 alopecia areata 2 skos:exactMatch UMLS:C1853104 semapv:UnspecifiedMatching MONDO:0012551 alopecia areata 2 skos:exactMatch mesh:C565186 semapv:UnspecifiedMatching MONDO:0012552 multiple endocrine neoplasia type 4 skos:exactMatch DOID:0080137 multiple endocrine neoplasia type 4 semapv:UnspecifiedMatching MONDO:0012552 multiple endocrine neoplasia type 4 skos:exactMatch MEDGEN:373469 semapv:UnspecifiedMatching MONDO:0012552 multiple endocrine neoplasia type 4 skos:exactMatch NCIT:C157449 Multiple Endocrine Neoplasia Type 4 semapv:UnspecifiedMatching MONDO:0012552 multiple endocrine neoplasia type 4 skos:exactMatch OMIM:610755 multiple endocrine neoplasia, type 4 semapv:UnspecifiedMatching MONDO:0012552 multiple endocrine neoplasia type 4 skos:exactMatch Orphanet:276152 Multiple endocrine neoplasia type 4 semapv:UnspecifiedMatching MONDO:0012552 multiple endocrine neoplasia type 4 skos:exactMatch SCTID:715907003 semapv:UnspecifiedMatching MONDO:0012552 multiple endocrine neoplasia type 4 skos:exactMatch UMLS:C1970712 semapv:UnspecifiedMatching MONDO:0012552 multiple endocrine neoplasia type 4 skos:exactMatch icd11.foundation:157945677 Multiple endocrine neoplasia type 4 semapv:UnspecifiedMatching MONDO:0012552 multiple endocrine neoplasia type 4 skos:exactMatch mesh:C567059 semapv:UnspecifiedMatching MONDO:0012553 cerebrooculofacioskeletal syndrome 2 skos:exactMatch DOID:0080912 cerebrooculofacioskeletal syndrome 2 semapv:UnspecifiedMatching MONDO:0012553 cerebrooculofacioskeletal syndrome 2 skos:exactMatch MEDGEN:342799 semapv:UnspecifiedMatching MONDO:0012553 cerebrooculofacioskeletal syndrome 2 skos:exactMatch OMIM:610756 cerebrooculofacioskeletal syndrome 2 semapv:UnspecifiedMatching MONDO:0012553 cerebrooculofacioskeletal syndrome 2 skos:exactMatch UMLS:C1853102 semapv:UnspecifiedMatching MONDO:0012553 cerebrooculofacioskeletal syndrome 2 skos:exactMatch mesh:C565185 semapv:UnspecifiedMatching MONDO:0012554 cerebrooculofacioskeletal syndrome 4 skos:exactMatch DOID:0080914 cerebrooculofacioskeletal syndrome 4 semapv:UnspecifiedMatching MONDO:0012554 cerebrooculofacioskeletal syndrome 4 skos:exactMatch MEDGEN:342798 semapv:UnspecifiedMatching MONDO:0012554 cerebrooculofacioskeletal syndrome 4 skos:exactMatch NCIT:C173104 Cerebrooculofacioskeletal Syndrome 4 semapv:UnspecifiedMatching MONDO:0012554 cerebrooculofacioskeletal syndrome 4 skos:exactMatch OMIM:610758 cerebrooculofacioskeletal syndrome 4 semapv:UnspecifiedMatching MONDO:0012554 cerebrooculofacioskeletal syndrome 4 skos:exactMatch UMLS:C1853100 semapv:UnspecifiedMatching MONDO:0012554 cerebrooculofacioskeletal syndrome 4 skos:exactMatch mesh:C565184 semapv:UnspecifiedMatching MONDO:0012555 Cornelia de Lange syndrome 3 skos:exactMatch DOID:0080507 Cornelia de Lange syndrome 3 semapv:UnspecifiedMatching MONDO:0012555 Cornelia de Lange syndrome 3 skos:exactMatch MEDGEN:339902 semapv:UnspecifiedMatching MONDO:0012555 Cornelia de Lange syndrome 3 skos:exactMatch OMIM:610759 cornelia lange lange syndrome 3 with or without midline brain defects semapv:UnspecifiedMatching MONDO:0012555 Cornelia de Lange syndrome 3 skos:exactMatch UMLS:C1853099 semapv:UnspecifiedMatching MONDO:0012556 DK1-congenital disorder of glycosylation skos:exactMatch DOID:0080565 congenital disorder of glycosylation Im semapv:UnspecifiedMatching MONDO:0012556 DK1-congenital disorder of glycosylation skos:exactMatch MEDGEN:332072 semapv:UnspecifiedMatching MONDO:0012556 DK1-congenital disorder of glycosylation skos:exactMatch OMIM:610768 congenital disorder of glycosylation, type im semapv:UnspecifiedMatching MONDO:0012556 DK1-congenital disorder of glycosylation skos:exactMatch Orphanet:91131 DK1-CDG semapv:UnspecifiedMatching MONDO:0012556 DK1-congenital disorder of glycosylation skos:exactMatch SCTID:718712005 semapv:UnspecifiedMatching MONDO:0012556 DK1-congenital disorder of glycosylation skos:exactMatch UMLS:C1835849 semapv:UnspecifiedMatching MONDO:0012556 DK1-congenital disorder of glycosylation skos:exactMatch mesh:C563666 semapv:UnspecifiedMatching MONDO:0012557 cardiomyopathy-hypotonia-lactic acidosis syndrome skos:exactMatch MEDGEN:324373 semapv:UnspecifiedMatching MONDO:0012557 cardiomyopathy-hypotonia-lactic acidosis syndrome skos:exactMatch OMIM:610773 mitochondrial phosphate carrier deficiency semapv:UnspecifiedMatching MONDO:0012557 cardiomyopathy-hypotonia-lactic acidosis syndrome skos:exactMatch Orphanet:91130 Cardiomyopathy-hypotonia-lactic acidosis syndrome semapv:UnspecifiedMatching MONDO:0012557 cardiomyopathy-hypotonia-lactic acidosis syndrome skos:exactMatch SCTID:718713000 semapv:UnspecifiedMatching MONDO:0012557 cardiomyopathy-hypotonia-lactic acidosis syndrome skos:exactMatch UMLS:C1835845 semapv:UnspecifiedMatching MONDO:0012557 cardiomyopathy-hypotonia-lactic acidosis syndrome skos:exactMatch mesh:C563665 semapv:UnspecifiedMatching MONDO:0012558 epiphyseal dysplasia, Baumann type skos:exactMatch MEDGEN:322764 semapv:UnspecifiedMatching MONDO:0012558 epiphyseal dysplasia, Baumann type skos:exactMatch OMIM:610797 epiphyseal dysplasia, baumann type semapv:UnspecifiedMatching MONDO:0012558 epiphyseal dysplasia, Baumann type skos:exactMatch UMLS:C1835830 semapv:UnspecifiedMatching MONDO:0012558 epiphyseal dysplasia, Baumann type skos:exactMatch mesh:C563664 semapv:UnspecifiedMatching MONDO:0012559 primary immunodeficiency syndrome due to p14 deficiency skos:exactMatch MEDGEN:372135 semapv:UnspecifiedMatching MONDO:0012559 primary immunodeficiency syndrome due to p14 deficiency skos:exactMatch OMIM:610798 immunodeficiency due to defect 1n mapbp-interacting protein semapv:UnspecifiedMatching MONDO:0012559 primary immunodeficiency syndrome due to p14 deficiency skos:exactMatch Orphanet:90023 Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency semapv:UnspecifiedMatching MONDO:0012559 primary immunodeficiency syndrome due to p14 deficiency skos:exactMatch SCTID:718717004 semapv:UnspecifiedMatching MONDO:0012559 primary immunodeficiency syndrome due to p14 deficiency skos:exactMatch UMLS:C1835829 semapv:UnspecifiedMatching MONDO:0012559 primary immunodeficiency syndrome due to p14 deficiency skos:exactMatch icd11.foundation:813140844 Primary immunodeficiency syndrome due to p14 deficiency semapv:UnspecifiedMatching MONDO:0012559 primary immunodeficiency syndrome due to p14 deficiency skos:exactMatch mesh:C563663 semapv:UnspecifiedMatching MONDO:0012560 obsolete invasive pneumococcal disease, recurrent isolated, 1 skos:exactMatch OMIM:610799 semapv:UnspecifiedMatching MONDO:0012561 congenital anomalies of kidney and urinary tract 1 skos:exactMatch DOID:0080206 CAKUT1 semapv:UnspecifiedMatching MONDO:0012561 congenital anomalies of kidney and urinary tract 1 skos:exactMatch MEDGEN:322763 semapv:UnspecifiedMatching MONDO:0012561 congenital anomalies of kidney and urinary tract 1 skos:exactMatch OMIM:610805 congenital anomalies of kidney and urinary tract 1 semapv:UnspecifiedMatching MONDO:0012561 congenital anomalies of kidney and urinary tract 1 skos:exactMatch UMLS:C1835826 semapv:UnspecifiedMatching MONDO:0012561 congenital anomalies of kidney and urinary tract 1 skos:exactMatch mesh:C563661 semapv:UnspecifiedMatching MONDO:0012562 holoprosencephaly 7 skos:exactMatch DOID:0110876 holoprosencephaly 7 semapv:UnspecifiedMatching MONDO:0012562 holoprosencephaly 7 skos:exactMatch MEDGEN:372134 semapv:UnspecifiedMatching MONDO:0012562 holoprosencephaly 7 skos:exactMatch OMIM:610828 holoprosencephaly 7 semapv:UnspecifiedMatching MONDO:0012562 holoprosencephaly 7 skos:exactMatch UMLS:C1835820 semapv:UnspecifiedMatching MONDO:0012562 holoprosencephaly 7 skos:exactMatch mesh:C563660 semapv:UnspecifiedMatching MONDO:0012563 holoprosencephaly 9 skos:exactMatch DOID:0110873 holoprosencephaly 9 semapv:UnspecifiedMatching MONDO:0012563 holoprosencephaly 9 skos:exactMatch MEDGEN:324369 semapv:UnspecifiedMatching MONDO:0012563 holoprosencephaly 9 skos:exactMatch OMIM:610829 holoprosencephaly 9 semapv:UnspecifiedMatching MONDO:0012563 holoprosencephaly 9 skos:exactMatch UMLS:C1835819 semapv:UnspecifiedMatching MONDO:0012564 Polyosteolysis-hyperostosis syndrome skos:exactMatch MEDGEN:324368 semapv:UnspecifiedMatching MONDO:0012564 Polyosteolysis-hyperostosis syndrome skos:exactMatch OMIM:610830 polyosteolysis-hyperostosis syndrome semapv:UnspecifiedMatching MONDO:0012564 Polyosteolysis-hyperostosis syndrome skos:exactMatch UMLS:C1835818 semapv:UnspecifiedMatching MONDO:0012564 Polyosteolysis-hyperostosis syndrome skos:exactMatch mesh:C563658 semapv:UnspecifiedMatching MONDO:0012565 Fanconi anemia complementation group N skos:exactMatch DOID:0111094 Fanconi anemia complementation group N semapv:UnspecifiedMatching MONDO:0012565 Fanconi anemia complementation group N skos:exactMatch MEDGEN:372133 semapv:UnspecifiedMatching MONDO:0012565 Fanconi anemia complementation group N skos:exactMatch OMIM:610832 fanconi anemia, complementation group n semapv:UnspecifiedMatching MONDO:0012565 Fanconi anemia complementation group N skos:exactMatch UMLS:C1835817 semapv:UnspecifiedMatching MONDO:0012565 Fanconi anemia complementation group N skos:exactMatch mesh:C563657 semapv:UnspecifiedMatching MONDO:0012566 autism, susceptibility to, 11 skos:exactMatch MEDGEN:370932 semapv:UnspecifiedMatching MONDO:0012566 autism, susceptibility to, 11 skos:exactMatch OMIM:610836 autism, susceptibility to, 11 semapv:UnspecifiedMatching MONDO:0012566 autism, susceptibility to, 11 skos:exactMatch UMLS:C1970512 semapv:UnspecifiedMatching MONDO:0012567 autism, susceptibility to, 12 skos:exactMatch MEDGEN:410089 semapv:UnspecifiedMatching MONDO:0012567 autism, susceptibility to, 12 skos:exactMatch OMIM:610838 autism, susceptibility to, 12 semapv:UnspecifiedMatching MONDO:0012567 autism, susceptibility to, 12 skos:exactMatch UMLS:C1970511 semapv:UnspecifiedMatching MONDO:0012568 osteoarthritis susceptibility 4 skos:exactMatch MEDGEN:332068 semapv:UnspecifiedMatching MONDO:0012568 osteoarthritis susceptibility 4 skos:exactMatch OMIM:610839 osteoarthritis susceptibility 4 semapv:UnspecifiedMatching MONDO:0012568 osteoarthritis susceptibility 4 skos:exactMatch UMLS:C1835815 semapv:UnspecifiedMatching MONDO:0012569 mitral valve prolapse, myxomatous 3 skos:exactMatch MEDGEN:372132 semapv:UnspecifiedMatching MONDO:0012569 mitral valve prolapse, myxomatous 3 skos:exactMatch OMIM:610840 mitral valve prolapse 3 semapv:UnspecifiedMatching MONDO:0012569 mitral valve prolapse, myxomatous 3 skos:exactMatch UMLS:C1835814 semapv:UnspecifiedMatching MONDO:0012569 mitral valve prolapse, myxomatous 3 skos:exactMatch mesh:C563655 semapv:UnspecifiedMatching MONDO:0012570 body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency skos:exactMatch MEDGEN:332067 semapv:UnspecifiedMatching MONDO:0012570 body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency skos:exactMatch OMIM:610842 pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency semapv:UnspecifiedMatching MONDO:0012570 body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency skos:exactMatch Orphanet:91135 Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency semapv:UnspecifiedMatching MONDO:0012570 body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency skos:exactMatch SCTID:717941005 semapv:UnspecifiedMatching MONDO:0012570 body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency skos:exactMatch UMLS:C1835813 semapv:UnspecifiedMatching MONDO:0012570 body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency skos:exactMatch mesh:C563654 semapv:UnspecifiedMatching MONDO:0012571 primary ciliary dyskinesia 6 skos:exactMatch DOID:0110606 primary ciliary dyskinesia 6 semapv:UnspecifiedMatching MONDO:0012571 primary ciliary dyskinesia 6 skos:exactMatch MEDGEN:370930 semapv:UnspecifiedMatching MONDO:0012571 primary ciliary dyskinesia 6 skos:exactMatch OMIM:610852 ciliary dyskinesia, primary, 6 semapv:UnspecifiedMatching MONDO:0012571 primary ciliary dyskinesia 6 skos:exactMatch UMLS:C1970506 semapv:UnspecifiedMatching MONDO:0012571 primary ciliary dyskinesia 6 skos:exactMatch mesh:C567057 semapv:UnspecifiedMatching MONDO:0012572 Sakoda complex skos:exactMatch MEDGEN:370271 semapv:UnspecifiedMatching MONDO:0012572 Sakoda complex skos:exactMatch OMIM:610871 sakoda complex semapv:UnspecifiedMatching MONDO:0012572 Sakoda complex skos:exactMatch UMLS:C1970485 semapv:UnspecifiedMatching MONDO:0012572 Sakoda complex skos:exactMatch mesh:C567055 semapv:UnspecifiedMatching MONDO:0012573 vesicoureteral reflux 2 skos:exactMatch MEDGEN:370270 semapv:UnspecifiedMatching MONDO:0012573 vesicoureteral reflux 2 skos:exactMatch OMIM:610878 vesicoureteral reflux 2 semapv:UnspecifiedMatching MONDO:0012573 vesicoureteral reflux 2 skos:exactMatch UMLS:C1970483 semapv:UnspecifiedMatching MONDO:0012573 vesicoureteral reflux 2 skos:exactMatch mesh:C567053 semapv:UnspecifiedMatching MONDO:0012574 Potocki-Lupski syndrome skos:exactMatch DOID:0060853 Potocki-Lupski syndrome semapv:UnspecifiedMatching MONDO:0012574 Potocki-Lupski syndrome skos:exactMatch MEDGEN:444010 semapv:UnspecifiedMatching MONDO:0012574 Potocki-Lupski syndrome skos:exactMatch NCIT:C124846 Potocki-Lupski Syndrome semapv:UnspecifiedMatching MONDO:0012574 Potocki-Lupski syndrome skos:exactMatch OMIM:610883 potocki-lupski syndrome semapv:UnspecifiedMatching MONDO:0012574 Potocki-Lupski syndrome skos:exactMatch Orphanet:1713 17p11.2 microduplication syndrome semapv:UnspecifiedMatching MONDO:0012574 Potocki-Lupski syndrome skos:exactMatch SCTID:734016004 semapv:UnspecifiedMatching MONDO:0012574 Potocki-Lupski syndrome skos:exactMatch UMLS:C2931246 semapv:UnspecifiedMatching MONDO:0012574 Potocki-Lupski syndrome skos:exactMatch icd11.foundation:1720095972 Potocki-Lupski syndrome semapv:UnspecifiedMatching MONDO:0012575 branchiootorenal syndrome 2 skos:exactMatch DOID:0111424 branchiootorenal syndrome 2 semapv:UnspecifiedMatching MONDO:0012575 branchiootorenal syndrome 2 skos:exactMatch MEDGEN:410081 semapv:UnspecifiedMatching MONDO:0012575 branchiootorenal syndrome 2 skos:exactMatch OMIM:610896 branchiootorenal syndrome 2 semapv:UnspecifiedMatching MONDO:0012575 branchiootorenal syndrome 2 skos:exactMatch UMLS:C1970479 semapv:UnspecifiedMatching MONDO:0012576 supranuclear palsy, progressive, 3 skos:exactMatch MEDGEN:370922 semapv:UnspecifiedMatching MONDO:0012576 supranuclear palsy, progressive, 3 skos:exactMatch OMIM:610898 supranuclear palsy, progressive, 3 semapv:UnspecifiedMatching MONDO:0012576 supranuclear palsy, progressive, 3 skos:exactMatch UMLS:C1970476 semapv:UnspecifiedMatching MONDO:0012576 supranuclear palsy, progressive, 3 skos:exactMatch mesh:C567050 semapv:UnspecifiedMatching MONDO:0012577 asthma-related traits, susceptibility to, 4 skos:exactMatch MEDGEN:370920 semapv:UnspecifiedMatching MONDO:0012577 asthma-related traits, susceptibility to, 4 skos:exactMatch OMIM:610906 asthma-related traits, susceptibility to, 4 semapv:UnspecifiedMatching MONDO:0012577 asthma-related traits, susceptibility to, 4 skos:exactMatch UMLS:C1970474 semapv:UnspecifiedMatching MONDO:0012578 autism, susceptibility to, 13 skos:exactMatch MEDGEN:410080 semapv:UnspecifiedMatching MONDO:0012578 autism, susceptibility to, 13 skos:exactMatch OMIM:610908 autism, susceptibility to, 13 semapv:UnspecifiedMatching MONDO:0012578 autism, susceptibility to, 13 skos:exactMatch UMLS:C1970473 semapv:UnspecifiedMatching MONDO:0012579 autoimmune pulmonary alveolar proteinosis skos:exactMatch MEDGEN:410079 semapv:UnspecifiedMatching MONDO:0012579 autoimmune pulmonary alveolar proteinosis skos:exactMatch OMIM:610910 pulmonary alveolar proteinosis, acquired semapv:UnspecifiedMatching MONDO:0012579 autoimmune pulmonary alveolar proteinosis skos:exactMatch Orphanet:747 Autoimmune pulmonary alveolar proteinosis semapv:UnspecifiedMatching MONDO:0012579 autoimmune pulmonary alveolar proteinosis skos:exactMatch SCTID:707443007 semapv:UnspecifiedMatching MONDO:0012579 autoimmune pulmonary alveolar proteinosis skos:exactMatch UMLS:C1970472 semapv:UnspecifiedMatching MONDO:0012579 autoimmune pulmonary alveolar proteinosis skos:exactMatch icd11.foundation:676409940 Autoimmune pulmonary alveolar proteinosis semapv:UnspecifiedMatching MONDO:0012579 autoimmune pulmonary alveolar proteinosis skos:exactMatch mesh:C567049 semapv:UnspecifiedMatching MONDO:0012580 hereditary pulmonary alveolar proteinosis skos:exactMatch MEDGEN:777976 semapv:UnspecifiedMatching MONDO:0012580 hereditary pulmonary alveolar proteinosis skos:exactMatch OMIMPS:265120 Surfactant metabolism dysfunction, pulmonary semapv:UnspecifiedMatching MONDO:0012580 hereditary pulmonary alveolar proteinosis skos:exactMatch Orphanet:264675 Hereditary pulmonary alveolar proteinosis semapv:UnspecifiedMatching MONDO:0012580 hereditary pulmonary alveolar proteinosis skos:exactMatch SCTID:707442002 semapv:UnspecifiedMatching MONDO:0012580 hereditary pulmonary alveolar proteinosis skos:exactMatch UMLS:C3711368 semapv:UnspecifiedMatching MONDO:0012580 hereditary pulmonary alveolar proteinosis skos:exactMatch mesh:C535832 semapv:UnspecifiedMatching MONDO:0012581 osteogenesis imperfecta type 8 skos:exactMatch DOID:0110336 osteogenesis imperfecta type 8 semapv:UnspecifiedMatching MONDO:0012581 osteogenesis imperfecta type 8 skos:exactMatch MEDGEN:410075 semapv:UnspecifiedMatching MONDO:0012581 osteogenesis imperfecta type 8 skos:exactMatch OMIM:610915 osteogenesis imperfecta, type 8 semapv:UnspecifiedMatching MONDO:0012581 osteogenesis imperfecta type 8 skos:exactMatch UMLS:C1970458 semapv:UnspecifiedMatching MONDO:0012581 osteogenesis imperfecta type 8 skos:exactMatch mesh:C536049 semapv:UnspecifiedMatching MONDO:0012582 interstitial lung disease due to ABCA3 deficiency skos:exactMatch MEDGEN:410074 semapv:UnspecifiedMatching MONDO:0012582 interstitial lung disease due to ABCA3 deficiency skos:exactMatch OMIM:610921 surfactant metabolism dysfunction, pulmonary, 3 semapv:UnspecifiedMatching MONDO:0012582 interstitial lung disease due to ABCA3 deficiency skos:exactMatch Orphanet:440402 Interstitial lung disease due to ABCA3 deficiency semapv:UnspecifiedMatching MONDO:0012582 interstitial lung disease due to ABCA3 deficiency skos:exactMatch UMLS:C1970456 semapv:UnspecifiedMatching MONDO:0012582 interstitial lung disease due to ABCA3 deficiency skos:exactMatch mesh:C567046 semapv:UnspecifiedMatching MONDO:0012583 tooth agenesis, selective, 5 skos:exactMatch MEDGEN:346764 semapv:UnspecifiedMatching MONDO:0012583 tooth agenesis, selective, 5 skos:exactMatch OMIM:610926 tooth agenesis, selective, 5 semapv:UnspecifiedMatching MONDO:0012583 tooth agenesis, selective, 5 skos:exactMatch UMLS:C1858210 semapv:UnspecifiedMatching MONDO:0012583 tooth agenesis, selective, 5 skos:exactMatch mesh:C565757 semapv:UnspecifiedMatching MONDO:0012584 systemic lupus erythematosus, susceptibility to, 9 skos:exactMatch MEDGEN:369736 semapv:UnspecifiedMatching MONDO:0012584 systemic lupus erythematosus, susceptibility to, 9 skos:exactMatch OMIM:610927 systemic lupus erythematosus, susceptibility to, 9 semapv:UnspecifiedMatching MONDO:0012584 systemic lupus erythematosus, susceptibility to, 9 skos:exactMatch UMLS:C1970455 semapv:UnspecifiedMatching MONDO:0012585 coronary heart disease, susceptibility to, 7 skos:exactMatch MEDGEN:370260 semapv:UnspecifiedMatching MONDO:0012585 coronary heart disease, susceptibility to, 7 skos:exactMatch OMIM:610938 coronary heart disease, susceptibility to, 7 semapv:UnspecifiedMatching MONDO:0012585 coronary heart disease, susceptibility to, 7 skos:exactMatch UMLS:C1970441 semapv:UnspecifiedMatching MONDO:0012586 coronary artery disease, autosomal dominant 2 skos:exactMatch MEDGEN:370259 semapv:UnspecifiedMatching MONDO:0012586 coronary artery disease, autosomal dominant 2 skos:exactMatch OMIM:610947 coronary artery disease, autosomal dominant 2 semapv:UnspecifiedMatching MONDO:0012586 coronary artery disease, autosomal dominant 2 skos:exactMatch UMLS:C1970440 semapv:UnspecifiedMatching MONDO:0012586 coronary artery disease, autosomal dominant 2 skos:exactMatch mesh:C567045 semapv:UnspecifiedMatching MONDO:0012587 hypertension, essential, susceptibility to, 7 skos:exactMatch MEDGEN:370258 semapv:UnspecifiedMatching MONDO:0012587 hypertension, essential, susceptibility to, 7 skos:exactMatch OMIM:610948 hypertension, essential, susceptibility to, 7 semapv:UnspecifiedMatching MONDO:0012587 hypertension, essential, susceptibility to, 7 skos:exactMatch UMLS:C1970439 semapv:UnspecifiedMatching MONDO:0012588 neuronal ceroid lipofuscinosis 7 skos:exactMatch DOID:0110722 neuronal ceroid lipofuscinosis 7 semapv:UnspecifiedMatching MONDO:0012588 neuronal ceroid lipofuscinosis 7 skos:exactMatch MEDGEN:325457 semapv:UnspecifiedMatching MONDO:0012588 neuronal ceroid lipofuscinosis 7 skos:exactMatch OMIM:610951 ceroid lipofuscinosis, neuronal, 7 semapv:UnspecifiedMatching MONDO:0012588 neuronal ceroid lipofuscinosis 7 skos:exactMatch Orphanet:228366 CLN7 disease semapv:UnspecifiedMatching MONDO:0012588 neuronal ceroid lipofuscinosis 7 skos:exactMatch UMLS:C1838571 semapv:UnspecifiedMatching MONDO:0012588 neuronal ceroid lipofuscinosis 7 skos:exactMatch mesh:C563989 semapv:UnspecifiedMatching MONDO:0012589 Pitt-Hopkins syndrome skos:exactMatch DOID:0060488 Pitt-Hopkins syndrome semapv:UnspecifiedMatching MONDO:0012589 Pitt-Hopkins syndrome skos:exactMatch MEDGEN:370910 semapv:UnspecifiedMatching MONDO:0012589 Pitt-Hopkins syndrome skos:exactMatch NCIT:C129872 Pitt-Hopkins Syndrome semapv:UnspecifiedMatching MONDO:0012589 Pitt-Hopkins syndrome skos:exactMatch OMIM:610954 pitt-hopkins syndrome semapv:UnspecifiedMatching MONDO:0012589 Pitt-Hopkins syndrome skos:exactMatch Orphanet:2896 Pitt-Hopkins syndrome semapv:UnspecifiedMatching MONDO:0012589 Pitt-Hopkins syndrome skos:exactMatch SCTID:702344008 semapv:UnspecifiedMatching MONDO:0012589 Pitt-Hopkins syndrome skos:exactMatch UMLS:C1970431 semapv:UnspecifiedMatching MONDO:0012589 Pitt-Hopkins syndrome skos:exactMatch icd11.foundation:2040786134 Pitt-Hopkins syndrome semapv:UnspecifiedMatching MONDO:0012589 Pitt-Hopkins syndrome skos:exactMatch mesh:C537403 semapv:UnspecifiedMatching MONDO:0012590 XFE progeroid syndrome skos:exactMatch DOID:0060590 XFE progeroid syndrome semapv:UnspecifiedMatching MONDO:0012590 XFE progeroid syndrome skos:exactMatch MEDGEN:410064 semapv:UnspecifiedMatching MONDO:0012590 XFE progeroid syndrome skos:exactMatch NCIT:C173111 XFE Progeroid Syndrome semapv:UnspecifiedMatching MONDO:0012590 XFE progeroid syndrome skos:exactMatch OMIM:610965 xfe progeroid syndrome semapv:UnspecifiedMatching MONDO:0012590 XFE progeroid syndrome skos:exactMatch UMLS:C1970416 semapv:UnspecifiedMatching MONDO:0012590 XFE progeroid syndrome skos:exactMatch mesh:C567043 semapv:UnspecifiedMatching MONDO:0012591 osteogenesis imperfecta type 5 skos:exactMatch DOID:0110344 osteogenesis imperfecta type 5 semapv:UnspecifiedMatching MONDO:0012591 osteogenesis imperfecta type 5 skos:exactMatch MEDGEN:419332 semapv:UnspecifiedMatching MONDO:0012591 osteogenesis imperfecta type 5 skos:exactMatch OMIM:610967 osteogenesis imperfecta, type 5 semapv:UnspecifiedMatching MONDO:0012591 osteogenesis imperfecta type 5 skos:exactMatch Orphanet:216828 Osteogenesis imperfecta type 5 semapv:UnspecifiedMatching MONDO:0012591 osteogenesis imperfecta type 5 skos:exactMatch UMLS:C2931093 semapv:UnspecifiedMatching MONDO:0012591 osteogenesis imperfecta type 5 skos:exactMatch icd11.foundation:1718903422 Osteogenesis imperfecta type 5 semapv:UnspecifiedMatching MONDO:0012591 osteogenesis imperfecta type 5 skos:exactMatch mesh:C567042 semapv:UnspecifiedMatching MONDO:0012592 osteogenesis imperfecta type 11 skos:exactMatch DOID:0110351 osteogenesis imperfecta type 11 semapv:UnspecifiedMatching MONDO:0012592 osteogenesis imperfecta type 11 skos:exactMatch MEDGEN:462568 semapv:UnspecifiedMatching MONDO:0012592 osteogenesis imperfecta type 11 skos:exactMatch OMIM:610968 osteogenesis imperfecta, type 11 semapv:UnspecifiedMatching MONDO:0012592 osteogenesis imperfecta type 11 skos:exactMatch UMLS:C3151218 semapv:UnspecifiedMatching MONDO:0012593 brain-lung-thyroid syndrome skos:exactMatch MEDGEN:369694 semapv:UnspecifiedMatching MONDO:0012593 brain-lung-thyroid syndrome skos:exactMatch OMIM:610978 choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction semapv:UnspecifiedMatching MONDO:0012593 brain-lung-thyroid syndrome skos:exactMatch Orphanet:209905 Brain-lung-thyroid syndrome semapv:UnspecifiedMatching MONDO:0012593 brain-lung-thyroid syndrome skos:exactMatch SCTID:719098007 semapv:UnspecifiedMatching MONDO:0012593 brain-lung-thyroid syndrome skos:exactMatch UMLS:C1970269 semapv:UnspecifiedMatching MONDO:0012593 brain-lung-thyroid syndrome skos:exactMatch icd11.foundation:809856670 Brain-lung-thyroid syndrome semapv:UnspecifiedMatching MONDO:0012593 brain-lung-thyroid syndrome skos:exactMatch mesh:C567034 semapv:UnspecifiedMatching MONDO:0012594 complement factor I deficiency skos:exactMatch DOID:0050419 complement factor I deficiency semapv:UnspecifiedMatching MONDO:0012594 complement factor I deficiency skos:exactMatch MEDGEN:483045 semapv:UnspecifiedMatching MONDO:0012594 complement factor I deficiency skos:exactMatch OMIM:610984 complement factor 1 deficiency semapv:UnspecifiedMatching MONDO:0012594 complement factor I deficiency skos:exactMatch Orphanet:200418 Immunodeficiency with factor I anomaly semapv:UnspecifiedMatching MONDO:0012594 complement factor I deficiency skos:exactMatch UMLS:C3463916 semapv:UnspecifiedMatching MONDO:0012594 complement factor I deficiency skos:exactMatch mesh:C572568 semapv:UnspecifiedMatching MONDO:0012595 leprosy, susceptibility to, 4 skos:exactMatch MEDGEN:370866 semapv:UnspecifiedMatching MONDO:0012595 leprosy, susceptibility to, 4 skos:exactMatch OMIM:610988 leprosy, susceptibility to, 4 semapv:UnspecifiedMatching MONDO:0012595 leprosy, susceptibility to, 4 skos:exactMatch UMLS:C1970254 semapv:UnspecifiedMatching MONDO:0012596 PSAT deficiency skos:exactMatch DOID:0050723 PSAT deficiency semapv:UnspecifiedMatching MONDO:0012596 PSAT deficiency skos:exactMatch MEDGEN:410026 semapv:UnspecifiedMatching MONDO:0012596 PSAT deficiency skos:exactMatch OMIM:610992 phosphoserine aminotransferase deficiency semapv:UnspecifiedMatching MONDO:0012596 PSAT deficiency skos:exactMatch Orphanet:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form semapv:UnspecifiedMatching MONDO:0012596 PSAT deficiency skos:exactMatch SCTID:718603002 semapv:UnspecifiedMatching MONDO:0012596 PSAT deficiency skos:exactMatch UMLS:C1970253 semapv:UnspecifiedMatching MONDO:0012596 PSAT deficiency skos:exactMatch mesh:C567032 semapv:UnspecifiedMatching MONDO:0012597 prostate cancer, hereditary, 9 skos:exactMatch MEDGEN:369689 semapv:UnspecifiedMatching MONDO:0012597 prostate cancer, hereditary, 9 skos:exactMatch OMIM:610997 prostate cancer, hereditary, 9 semapv:UnspecifiedMatching MONDO:0012597 prostate cancer, hereditary, 9 skos:exactMatch UMLS:C1970250 semapv:UnspecifiedMatching MONDO:0012597 prostate cancer, hereditary, 9 skos:exactMatch mesh:C567031 semapv:UnspecifiedMatching MONDO:0012598 fibromatosis, gingival, 4 skos:exactMatch MEDGEN:370209 semapv:UnspecifiedMatching MONDO:0012598 fibromatosis, gingival, 4 skos:exactMatch OMIM:611010 fibromatosis, gingival, 4 semapv:UnspecifiedMatching MONDO:0012598 fibromatosis, gingival, 4 skos:exactMatch UMLS:C1970245 semapv:UnspecifiedMatching MONDO:0012598 fibromatosis, gingival, 4 skos:exactMatch mesh:C567028 semapv:UnspecifiedMatching MONDO:0012599 hypertension, essential, susceptibility to, 8 skos:exactMatch MEDGEN:369687 semapv:UnspecifiedMatching MONDO:0012599 hypertension, essential, susceptibility to, 8 skos:exactMatch OMIM:611014 hypertension, essential, susceptibility to, 8 semapv:UnspecifiedMatching MONDO:0012599 hypertension, essential, susceptibility to, 8 skos:exactMatch UMLS:C1970244 semapv:UnspecifiedMatching MONDO:0012600 autism, susceptibility to, 9 skos:exactMatch MEDGEN:410023 semapv:UnspecifiedMatching MONDO:0012600 autism, susceptibility to, 9 skos:exactMatch OMIM:611015 autism, susceptibility to, 9 semapv:UnspecifiedMatching MONDO:0012600 autism, susceptibility to, 9 skos:exactMatch UMLS:C1970243 semapv:UnspecifiedMatching MONDO:0012601 autism, susceptibility to, 10 skos:exactMatch MEDGEN:370865 semapv:UnspecifiedMatching MONDO:0012601 autism, susceptibility to, 10 skos:exactMatch OMIM:611016 autism, susceptibility to, 10 semapv:UnspecifiedMatching MONDO:0012601 autism, susceptibility to, 10 skos:exactMatch UMLS:C1970242 semapv:UnspecifiedMatching MONDO:0012602 autosomal recessive nonsyndromic hearing loss 24 skos:exactMatch DOID:0110482 autosomal recessive nonsyndromic deafness 24 semapv:UnspecifiedMatching MONDO:0012602 autosomal recessive nonsyndromic hearing loss 24 skos:exactMatch MEDGEN:370208 semapv:UnspecifiedMatching MONDO:0012602 autosomal recessive nonsyndromic hearing loss 24 skos:exactMatch OMIM:611022 deafness, autosomal recessive 24 semapv:UnspecifiedMatching MONDO:0012602 autosomal recessive nonsyndromic hearing loss 24 skos:exactMatch UMLS:C1970239 semapv:UnspecifiedMatching MONDO:0012602 autosomal recessive nonsyndromic hearing loss 24 skos:exactMatch mesh:C567027 semapv:UnspecifiedMatching MONDO:0012603 episodic kinesigenic dyskinesia 2 skos:exactMatch DOID:0090054 episodic kinesigenic dyskinesia 2 semapv:UnspecifiedMatching MONDO:0012603 episodic kinesigenic dyskinesia 2 skos:exactMatch MEDGEN:410022 semapv:UnspecifiedMatching MONDO:0012603 episodic kinesigenic dyskinesia 2 skos:exactMatch OMIM:611031 episodic kinesigenic dyskinesia 2 semapv:UnspecifiedMatching MONDO:0012603 episodic kinesigenic dyskinesia 2 skos:exactMatch UMLS:C1970238 semapv:UnspecifiedMatching MONDO:0012603 episodic kinesigenic dyskinesia 2 skos:exactMatch mesh:C567026 semapv:UnspecifiedMatching MONDO:0012604 isolated microphthalmia 3 skos:exactMatch DOID:0060842 isolated microphthalmia 3 semapv:UnspecifiedMatching MONDO:0012604 isolated microphthalmia 3 skos:exactMatch MEDGEN:1823955 semapv:UnspecifiedMatching MONDO:0012604 isolated microphthalmia 3 skos:exactMatch OMIM:611038 microphthalmia, syndromic 16 semapv:UnspecifiedMatching MONDO:0012604 isolated microphthalmia 3 skos:exactMatch UMLS:C5774181 semapv:UnspecifiedMatching MONDO:0012604 isolated microphthalmia 3 skos:exactMatch mesh:C567025 semapv:UnspecifiedMatching MONDO:0012605 isolated microphthalmia 5 skos:exactMatch DOID:0060837 isolated microphthalmia 5 semapv:UnspecifiedMatching MONDO:0012605 isolated microphthalmia 5 skos:exactMatch MEDGEN:410021 semapv:UnspecifiedMatching MONDO:0012605 isolated microphthalmia 5 skos:exactMatch OMIM:611040 microphthalmia, isolated 5 semapv:UnspecifiedMatching MONDO:0012605 isolated microphthalmia 5 skos:exactMatch Orphanet:251279 Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome semapv:UnspecifiedMatching MONDO:0012605 isolated microphthalmia 5 skos:exactMatch UMLS:C1970236 semapv:UnspecifiedMatching MONDO:0012605 isolated microphthalmia 5 skos:exactMatch mesh:C567024 semapv:UnspecifiedMatching MONDO:0012606 Mycobacterium tuberculosis, susceptibility to, 2 skos:exactMatch MEDGEN:369686 semapv:UnspecifiedMatching MONDO:0012606 Mycobacterium tuberculosis, susceptibility to, 2 skos:exactMatch OMIM:611046 mycobacterium tuberculosis, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0012606 Mycobacterium tuberculosis, susceptibility to, 2 skos:exactMatch UMLS:C1970235 semapv:UnspecifiedMatching MONDO:0012607 asthma-related traits, susceptibility to, 5 skos:exactMatch MEDGEN:370858 semapv:UnspecifiedMatching MONDO:0012607 asthma-related traits, susceptibility to, 5 skos:exactMatch OMIM:611064 asthma-related traits, susceptibility to, 5 semapv:UnspecifiedMatching MONDO:0012607 asthma-related traits, susceptibility to, 5 skos:exactMatch UMLS:C1970224 semapv:UnspecifiedMatching MONDO:0012608 neuronopathy, distal hereditary motor, autosomal recessive 4 skos:exactMatch DOID:0111213 autosomal recessive distal hereditary motor neuronopathy 4 semapv:UnspecifiedMatching MONDO:0012608 neuronopathy, distal hereditary motor, autosomal recessive 4 skos:exactMatch MEDGEN:369682 semapv:UnspecifiedMatching MONDO:0012608 neuronopathy, distal hereditary motor, autosomal recessive 4 skos:exactMatch OMIM:611067 neuronopathy, distal hereditary motor, autosomal recessive 4 semapv:UnspecifiedMatching MONDO:0012608 neuronopathy, distal hereditary motor, autosomal recessive 4 skos:exactMatch Orphanet:206580 Autosomal recessive lower motor neuron disease with childhood onset semapv:UnspecifiedMatching MONDO:0012608 neuronopathy, distal hereditary motor, autosomal recessive 4 skos:exactMatch UMLS:C1970211 semapv:UnspecifiedMatching MONDO:0012608 neuronopathy, distal hereditary motor, autosomal recessive 4 skos:exactMatch mesh:C567023 semapv:UnspecifiedMatching MONDO:0012609 Alzheimer disease 12 skos:exactMatch DOID:0110045 Alzheimer's disease 12 semapv:UnspecifiedMatching MONDO:0012609 Alzheimer disease 12 skos:exactMatch MEDGEN:410013 semapv:UnspecifiedMatching MONDO:0012609 Alzheimer disease 12 skos:exactMatch OMIM:611073 alzheimer disease 12 semapv:UnspecifiedMatching MONDO:0012609 Alzheimer disease 12 skos:exactMatch UMLS:C1970209 semapv:UnspecifiedMatching MONDO:0012609 Alzheimer disease 12 skos:exactMatch mesh:C567022 semapv:UnspecifiedMatching MONDO:0012610 inflammatory bowel disease 10 skos:exactMatch DOID:0110885 inflammatory bowel disease 10 semapv:UnspecifiedMatching MONDO:0012610 inflammatory bowel disease 10 skos:exactMatch MEDGEN:370205 semapv:UnspecifiedMatching MONDO:0012610 inflammatory bowel disease 10 skos:exactMatch OMIM:611081 inflammatory bowel disease (crohn disease) 10 semapv:UnspecifiedMatching MONDO:0012610 inflammatory bowel disease 10 skos:exactMatch UMLS:C1970207 semapv:UnspecifiedMatching MONDO:0012610 inflammatory bowel disease 10 skos:exactMatch mesh:C567021 semapv:UnspecifiedMatching MONDO:0012611 polyhydramnios, megalencephaly, and symptomatic epilepsy skos:exactMatch DOID:0070511 polyhydramnios, megalencephaly, and symptomatic epilepsy semapv:UnspecifiedMatching MONDO:0012611 polyhydramnios, megalencephaly, and symptomatic epilepsy skos:exactMatch MEDGEN:370203 semapv:UnspecifiedMatching MONDO:0012611 polyhydramnios, megalencephaly, and symptomatic epilepsy skos:exactMatch OMIM:611087 polyhydramnios, megalencephaly, and symptomatic epilepsy semapv:UnspecifiedMatching MONDO:0012611 polyhydramnios, megalencephaly, and symptomatic epilepsy skos:exactMatch Orphanet:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome semapv:UnspecifiedMatching MONDO:0012611 polyhydramnios, megalencephaly, and symptomatic epilepsy skos:exactMatch UMLS:C1970203 semapv:UnspecifiedMatching MONDO:0012611 polyhydramnios, megalencephaly, and symptomatic epilepsy skos:exactMatch mesh:C567020 semapv:UnspecifiedMatching MONDO:0012612 intellectual disability, autosomal recessive 12 skos:exactMatch DOID:0081180 autosomal recessive intellectual developmental disorder 12 semapv:UnspecifiedMatching MONDO:0012612 intellectual disability, autosomal recessive 12 skos:exactMatch MEDGEN:370850 semapv:UnspecifiedMatching MONDO:0012612 intellectual disability, autosomal recessive 12 skos:exactMatch OMIM:611090 intellectual developmental disorder, autosomal recessive 12 semapv:UnspecifiedMatching MONDO:0012612 intellectual disability, autosomal recessive 12 skos:exactMatch UMLS:C1970200 semapv:UnspecifiedMatching MONDO:0012612 intellectual disability, autosomal recessive 12 skos:exactMatch mesh:C567019 semapv:UnspecifiedMatching MONDO:0012613 intellectual disability, autosomal recessive 5 skos:exactMatch DOID:0081181 autosomal recessive intellectual developmental disorder 5 semapv:UnspecifiedMatching MONDO:0012613 intellectual disability, autosomal recessive 5 skos:exactMatch MEDGEN:370849 semapv:UnspecifiedMatching MONDO:0012613 intellectual disability, autosomal recessive 5 skos:exactMatch OMIM:611091 intellectual developmental disorder, autosomal recessive 5 semapv:UnspecifiedMatching MONDO:0012613 intellectual disability, autosomal recessive 5 skos:exactMatch UMLS:C1970199 semapv:UnspecifiedMatching MONDO:0012613 intellectual disability, autosomal recessive 5 skos:exactMatch mesh:C567018 semapv:UnspecifiedMatching MONDO:0012614 intellectual disability, autosomal recessive 6 skos:exactMatch DOID:0081182 autosomal recessive intellectual developmental disorder 6 semapv:UnspecifiedMatching MONDO:0012614 intellectual disability, autosomal recessive 6 skos:exactMatch MEDGEN:370848 semapv:UnspecifiedMatching MONDO:0012614 intellectual disability, autosomal recessive 6 skos:exactMatch OMIM:611092 intellectual developmental disorder, autosomal recessive 6 semapv:UnspecifiedMatching MONDO:0012614 intellectual disability, autosomal recessive 6 skos:exactMatch UMLS:C1970198 semapv:UnspecifiedMatching MONDO:0012614 intellectual disability, autosomal recessive 6 skos:exactMatch mesh:C567017 semapv:UnspecifiedMatching MONDO:0012615 intellectual disability, autosomal recessive 7 skos:exactMatch DOID:0081183 autosomal recessive intellectual developmental disorder 7 semapv:UnspecifiedMatching MONDO:0012615 intellectual disability, autosomal recessive 7 skos:exactMatch MEDGEN:370847 semapv:UnspecifiedMatching MONDO:0012615 intellectual disability, autosomal recessive 7 skos:exactMatch OMIM:611093 intellectual developmental disorder, autosomal recessive 7 semapv:UnspecifiedMatching MONDO:0012615 intellectual disability, autosomal recessive 7 skos:exactMatch UMLS:C1970197 semapv:UnspecifiedMatching MONDO:0012615 intellectual disability, autosomal recessive 7 skos:exactMatch mesh:C567016 semapv:UnspecifiedMatching MONDO:0012617 intellectual disability, autosomal recessive 9 skos:exactMatch DOID:0081184 autosomal recessive intellectual developmental disorder 9/26 semapv:UnspecifiedMatching MONDO:0012617 intellectual disability, autosomal recessive 9 skos:exactMatch MEDGEN:369678 semapv:UnspecifiedMatching MONDO:0012617 intellectual disability, autosomal recessive 9 skos:exactMatch OMIM:611095 intellectual developmental disorder, autosomal recessive 9 semapv:UnspecifiedMatching MONDO:0012617 intellectual disability, autosomal recessive 9 skos:exactMatch UMLS:C1970195 semapv:UnspecifiedMatching MONDO:0012617 intellectual disability, autosomal recessive 9 skos:exactMatch mesh:C567014 semapv:UnspecifiedMatching MONDO:0012618 intellectual disability, autosomal recessive 10 skos:exactMatch DOID:0081185 autosomal recessive intellectual developmental disorder 10/20 semapv:UnspecifiedMatching MONDO:0012618 intellectual disability, autosomal recessive 10 skos:exactMatch MEDGEN:410010 semapv:UnspecifiedMatching MONDO:0012618 intellectual disability, autosomal recessive 10 skos:exactMatch OMIM:611096 intellectual developmental disorder, autosomal recessive 10 semapv:UnspecifiedMatching MONDO:0012618 intellectual disability, autosomal recessive 10 skos:exactMatch UMLS:C1970194 semapv:UnspecifiedMatching MONDO:0012618 intellectual disability, autosomal recessive 10 skos:exactMatch mesh:C567013 semapv:UnspecifiedMatching MONDO:0012619 intellectual disability, autosomal recessive 11 skos:exactMatch DOID:0081186 autosomal recessive intellectual developmental disorder 11 semapv:UnspecifiedMatching MONDO:0012619 intellectual disability, autosomal recessive 11 skos:exactMatch MEDGEN:369677 semapv:UnspecifiedMatching MONDO:0012619 intellectual disability, autosomal recessive 11 skos:exactMatch OMIM:611097 intellectual developmental disorder, autosomal recessive 11 semapv:UnspecifiedMatching MONDO:0012619 intellectual disability, autosomal recessive 11 skos:exactMatch UMLS:C1970193 semapv:UnspecifiedMatching MONDO:0012619 intellectual disability, autosomal recessive 11 skos:exactMatch mesh:C567012 semapv:UnspecifiedMatching MONDO:0012620 prostate cancer, hereditary, 10 skos:exactMatch MEDGEN:370202 semapv:UnspecifiedMatching MONDO:0012620 prostate cancer, hereditary, 10 skos:exactMatch OMIM:611100 prostate cancer, hereditary, 10 semapv:UnspecifiedMatching MONDO:0012620 prostate cancer, hereditary, 10 skos:exactMatch UMLS:C1970192 semapv:UnspecifiedMatching MONDO:0012620 prostate cancer, hereditary, 10 skos:exactMatch mesh:C567011 semapv:UnspecifiedMatching MONDO:0012621 deafness-infertility syndrome skos:exactMatch MEDGEN:370197 semapv:UnspecifiedMatching MONDO:0012621 deafness-infertility syndrome skos:exactMatch OMIM:611102 deafness-infertility syndrome semapv:UnspecifiedMatching MONDO:0012621 deafness-infertility syndrome skos:exactMatch Orphanet:94064 Deafness-infertility syndrome semapv:UnspecifiedMatching MONDO:0012621 deafness-infertility syndrome skos:exactMatch SCTID:700489002 semapv:UnspecifiedMatching MONDO:0012621 deafness-infertility syndrome skos:exactMatch UMLS:C1970187 semapv:UnspecifiedMatching MONDO:0012621 deafness-infertility syndrome skos:exactMatch icd11.foundation:1430704280 Deafness-infertility syndrome semapv:UnspecifiedMatching MONDO:0012621 deafness-infertility syndrome skos:exactMatch mesh:C567010 semapv:UnspecifiedMatching MONDO:0012622 leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome skos:exactMatch MEDGEN:370845 semapv:UnspecifiedMatching MONDO:0012622 leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome skos:exactMatch OMIM:611105 leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation semapv:UnspecifiedMatching MONDO:0012622 leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome skos:exactMatch Orphanet:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome semapv:UnspecifiedMatching MONDO:0012622 leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome skos:exactMatch SCTID:703537008 semapv:UnspecifiedMatching MONDO:0012622 leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome skos:exactMatch UMLS:C1970180 semapv:UnspecifiedMatching MONDO:0012622 leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome skos:exactMatch mesh:C567009 semapv:UnspecifiedMatching MONDO:0012623 intellectual disability, autosomal recessive 4 skos:exactMatch DOID:0081187 autosomal recessive intellectual developmental disorder 4 semapv:UnspecifiedMatching MONDO:0012623 intellectual disability, autosomal recessive 4 skos:exactMatch MEDGEN:370844 semapv:UnspecifiedMatching MONDO:0012623 intellectual disability, autosomal recessive 4 skos:exactMatch OMIM:611107 intellectual developmental disorder, autosomal recessive 4 semapv:UnspecifiedMatching MONDO:0012623 intellectual disability, autosomal recessive 4 skos:exactMatch UMLS:C1970179 semapv:UnspecifiedMatching MONDO:0012623 intellectual disability, autosomal recessive 4 skos:exactMatch mesh:C567008 semapv:UnspecifiedMatching MONDO:0012624 acyl-CoA dehydrogenase 9 deficiency skos:exactMatch DOID:0112072 nuclear type mitochondrial complex I deficiency 20 semapv:UnspecifiedMatching MONDO:0012624 acyl-CoA dehydrogenase 9 deficiency skos:exactMatch MEDGEN:1648400 semapv:UnspecifiedMatching MONDO:0012624 acyl-CoA dehydrogenase 9 deficiency skos:exactMatch OMIM:611126 mitochondrial complex 1 deficiency, nuclear type 20 semapv:UnspecifiedMatching MONDO:0012624 acyl-CoA dehydrogenase 9 deficiency skos:exactMatch Orphanet:99901 Acyl-CoA dehydrogenase 9 deficiency semapv:UnspecifiedMatching MONDO:0012624 acyl-CoA dehydrogenase 9 deficiency skos:exactMatch SCTID:725046003 semapv:UnspecifiedMatching MONDO:0012624 acyl-CoA dehydrogenase 9 deficiency skos:exactMatch UMLS:C4747517 semapv:UnspecifiedMatching MONDO:0012624 acyl-CoA dehydrogenase 9 deficiency skos:exactMatch mesh:C567006 semapv:UnspecifiedMatching MONDO:0012625 retinitis pigmentosa 37 skos:exactMatch DOID:0110399 retinitis pigmentosa 37 semapv:UnspecifiedMatching MONDO:0012625 retinitis pigmentosa 37 skos:exactMatch MEDGEN:410004 semapv:UnspecifiedMatching MONDO:0012625 retinitis pigmentosa 37 skos:exactMatch OMIM:611131 retinitis pigmentosa 37 semapv:UnspecifiedMatching MONDO:0012625 retinitis pigmentosa 37 skos:exactMatch UMLS:C1970163 semapv:UnspecifiedMatching MONDO:0012625 retinitis pigmentosa 37 skos:exactMatch mesh:C567005 semapv:UnspecifiedMatching MONDO:0012626 Meckel syndrome, type 4 skos:exactMatch DOID:0070118 Meckel syndrome 4 semapv:UnspecifiedMatching MONDO:0012626 Meckel syndrome, type 4 skos:exactMatch MEDGEN:410003 semapv:UnspecifiedMatching MONDO:0012626 Meckel syndrome, type 4 skos:exactMatch OMIM:611134 meckel syndrome, type 4 semapv:UnspecifiedMatching MONDO:0012626 Meckel syndrome, type 4 skos:exactMatch UMLS:C1970161 semapv:UnspecifiedMatching MONDO:0012627 epilepsy, idiopathic generalized, susceptibility to, 13 skos:exactMatch MEDGEN:861910 semapv:UnspecifiedMatching MONDO:0012627 epilepsy, idiopathic generalized, susceptibility to, 13 skos:exactMatch OMIM:611136 epilepsy, idiopathic generalized, susceptibility to, 13 semapv:UnspecifiedMatching MONDO:0012627 epilepsy, idiopathic generalized, susceptibility to, 13 skos:exactMatch UMLS:C4013473 semapv:UnspecifiedMatching MONDO:0012627 epilepsy, idiopathic generalized, susceptibility to, 13 skos:exactMatch mesh:C567002 semapv:UnspecifiedMatching MONDO:0012628 coronary heart disease, susceptibility to, 8 skos:exactMatch MEDGEN:370192 semapv:UnspecifiedMatching MONDO:0012628 coronary heart disease, susceptibility to, 8 skos:exactMatch OMIM:611139 coronary heart disease, susceptibility to, 8 semapv:UnspecifiedMatching MONDO:0012628 coronary heart disease, susceptibility to, 8 skos:exactMatch UMLS:C1970158 semapv:UnspecifiedMatching MONDO:0012629 paroxysmal nonkinesigenic dyskinesia 2 skos:exactMatch DOID:0090047 paroxysmal nonkinesigenic dyskinesia 2 semapv:UnspecifiedMatching MONDO:0012629 paroxysmal nonkinesigenic dyskinesia 2 skos:exactMatch MEDGEN:370188 semapv:UnspecifiedMatching MONDO:0012629 paroxysmal nonkinesigenic dyskinesia 2 skos:exactMatch OMIM:611147 paroxysmal nonkinesigenic dyskinesia 2 semapv:UnspecifiedMatching MONDO:0012629 paroxysmal nonkinesigenic dyskinesia 2 skos:exactMatch UMLS:C1970149 semapv:UnspecifiedMatching MONDO:0012629 paroxysmal nonkinesigenic dyskinesia 2 skos:exactMatch mesh:C567001 semapv:UnspecifiedMatching MONDO:0012630 Alzheimer disease 13 skos:exactMatch DOID:0110046 Alzheimer's disease 13 semapv:UnspecifiedMatching MONDO:0012630 Alzheimer disease 13 skos:exactMatch MEDGEN:370835 semapv:UnspecifiedMatching MONDO:0012630 Alzheimer disease 13 skos:exactMatch OMIM:611152 alzheimer disease 13 semapv:UnspecifiedMatching MONDO:0012630 Alzheimer disease 13 skos:exactMatch UMLS:C1970147 semapv:UnspecifiedMatching MONDO:0012630 Alzheimer disease 13 skos:exactMatch mesh:C567000 semapv:UnspecifiedMatching MONDO:0012631 Alzheimer disease 14 skos:exactMatch DOID:0110047 Alzheimer's disease 14 semapv:UnspecifiedMatching MONDO:0012631 Alzheimer disease 14 skos:exactMatch MEDGEN:369666 semapv:UnspecifiedMatching MONDO:0012631 Alzheimer disease 14 skos:exactMatch OMIM:611154 alzheimer disease 14 semapv:UnspecifiedMatching MONDO:0012631 Alzheimer disease 14 skos:exactMatch UMLS:C1970144 semapv:UnspecifiedMatching MONDO:0012631 Alzheimer disease 14 skos:exactMatch mesh:C566999 semapv:UnspecifiedMatching MONDO:0012634 craniofacial dysplasia - osteopenia syndrome skos:exactMatch MEDGEN:370148 semapv:UnspecifiedMatching MONDO:0012634 craniofacial dysplasia - osteopenia syndrome skos:exactMatch OMIM:611174 hamamy syndrome semapv:UnspecifiedMatching MONDO:0012634 craniofacial dysplasia - osteopenia syndrome skos:exactMatch Orphanet:314555 Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome semapv:UnspecifiedMatching MONDO:0012634 craniofacial dysplasia - osteopenia syndrome skos:exactMatch UMLS:C1970027 semapv:UnspecifiedMatching MONDO:0012634 craniofacial dysplasia - osteopenia syndrome skos:exactMatch mesh:C566988 semapv:UnspecifiedMatching MONDO:0012635 COG8-congenital disorder of glycosylation skos:exactMatch DOID:0070260 congenital disorder of glycosylation type IIh semapv:UnspecifiedMatching MONDO:0012635 COG8-congenital disorder of glycosylation skos:exactMatch MEDGEN:409971 semapv:UnspecifiedMatching MONDO:0012635 COG8-congenital disorder of glycosylation skos:exactMatch OMIM:611182 congenital disorder of glycosylation, type iih semapv:UnspecifiedMatching MONDO:0012635 COG8-congenital disorder of glycosylation skos:exactMatch Orphanet:95428 COG8-CDG semapv:UnspecifiedMatching MONDO:0012635 COG8-congenital disorder of glycosylation skos:exactMatch SCTID:717774004 semapv:UnspecifiedMatching MONDO:0012635 COG8-congenital disorder of glycosylation skos:exactMatch UMLS:C1970021 semapv:UnspecifiedMatching MONDO:0012635 COG8-congenital disorder of glycosylation skos:exactMatch mesh:C566987 semapv:UnspecifiedMatching MONDO:0012636 restless legs syndrome, susceptibility to, 6 skos:exactMatch MEDGEN:370810 semapv:UnspecifiedMatching MONDO:0012636 restless legs syndrome, susceptibility to, 6 skos:exactMatch OMIM:611185 restless legs syndrome, susceptibility to, 6 semapv:UnspecifiedMatching MONDO:0012636 restless legs syndrome, susceptibility to, 6 skos:exactMatch UMLS:C1970020 semapv:UnspecifiedMatching MONDO:0012637 COG1-congenital disorder of glycosylation skos:exactMatch DOID:0070259 congenital disorder of glycosylation type IIg semapv:UnspecifiedMatching MONDO:0012637 COG1-congenital disorder of glycosylation skos:exactMatch MEDGEN:443957 semapv:UnspecifiedMatching MONDO:0012637 COG1-congenital disorder of glycosylation skos:exactMatch OMIM:611209 congenital disorder of glycosylation, type iig semapv:UnspecifiedMatching MONDO:0012637 COG1-congenital disorder of glycosylation skos:exactMatch Orphanet:263508 COG1-CDG semapv:UnspecifiedMatching MONDO:0012637 COG1-congenital disorder of glycosylation skos:exactMatch SCTID:718750004 semapv:UnspecifiedMatching MONDO:0012637 COG1-congenital disorder of glycosylation skos:exactMatch UMLS:C2931011 semapv:UnspecifiedMatching MONDO:0012637 COG1-congenital disorder of glycosylation skos:exactMatch mesh:C535756 semapv:UnspecifiedMatching MONDO:0012638 microphthalmia-brain atrophy syndrome skos:exactMatch DOID:0111812 syndromic microphthalmia 10 semapv:UnspecifiedMatching MONDO:0012638 microphthalmia-brain atrophy syndrome skos:exactMatch MEDGEN:370809 semapv:UnspecifiedMatching MONDO:0012638 microphthalmia-brain atrophy syndrome skos:exactMatch OMIM:611222 microphthalmia, syndromic 10 semapv:UnspecifiedMatching MONDO:0012638 microphthalmia-brain atrophy syndrome skos:exactMatch Orphanet:77299 Microphthalmia-brain atrophy syndrome semapv:UnspecifiedMatching MONDO:0012638 microphthalmia-brain atrophy syndrome skos:exactMatch SCTID:720010009 semapv:UnspecifiedMatching MONDO:0012638 microphthalmia-brain atrophy syndrome skos:exactMatch UMLS:C1970013 semapv:UnspecifiedMatching MONDO:0012638 microphthalmia-brain atrophy syndrome skos:exactMatch mesh:C566985 semapv:UnspecifiedMatching MONDO:0012639 hereditary spastic paraplegia 18 skos:exactMatch DOID:0110771 hereditary spastic paraplegia 18 semapv:UnspecifiedMatching MONDO:0012639 hereditary spastic paraplegia 18 skos:exactMatch MEDGEN:442343 semapv:UnspecifiedMatching MONDO:0012639 hereditary spastic paraplegia 18 skos:exactMatch Orphanet:209951 Autosomal spastic paraplegia type 18 semapv:UnspecifiedMatching MONDO:0012639 hereditary spastic paraplegia 18 skos:exactMatch SCTID:732932004 semapv:UnspecifiedMatching MONDO:0012639 hereditary spastic paraplegia 18 skos:exactMatch UMLS:C2749936 semapv:UnspecifiedMatching MONDO:0012639 hereditary spastic paraplegia 18 skos:exactMatch mesh:C567628 semapv:UnspecifiedMatching MONDO:0012640 Charcot-Marie-Tooth disease type 4J skos:exactMatch DOID:0110184 Charcot-Marie-Tooth disease type 4J semapv:UnspecifiedMatching MONDO:0012640 Charcot-Marie-Tooth disease type 4J skos:exactMatch MEDGEN:370808 semapv:UnspecifiedMatching MONDO:0012640 Charcot-Marie-Tooth disease type 4J skos:exactMatch NCIT:C134954 Charcot-Marie-Tooth Disease Type 4J semapv:UnspecifiedMatching MONDO:0012640 Charcot-Marie-Tooth disease type 4J skos:exactMatch OMIM:611228 charcot-marie-tooth disease, demyelinating, type 4j semapv:UnspecifiedMatching MONDO:0012640 Charcot-Marie-Tooth disease type 4J skos:exactMatch Orphanet:139515 Charcot-Marie-Tooth disease type 4J semapv:UnspecifiedMatching MONDO:0012640 Charcot-Marie-Tooth disease type 4J skos:exactMatch SCTID:720638000 semapv:UnspecifiedMatching MONDO:0012640 Charcot-Marie-Tooth disease type 4J skos:exactMatch UMLS:C1970011 semapv:UnspecifiedMatching MONDO:0012640 Charcot-Marie-Tooth disease type 4J skos:exactMatch icd11.foundation:905681283 Charcot-Marie-Tooth disease type 4J semapv:UnspecifiedMatching MONDO:0012640 Charcot-Marie-Tooth disease type 4J skos:exactMatch mesh:C566984 semapv:UnspecifiedMatching MONDO:0012641 restless legs syndrome, susceptibility to, 5 skos:exactMatch MEDGEN:370807 semapv:UnspecifiedMatching MONDO:0012641 restless legs syndrome, susceptibility to, 5 skos:exactMatch OMIM:611242 restless legs syndrome, susceptibility to, 5 semapv:UnspecifiedMatching MONDO:0012641 restless legs syndrome, susceptibility to, 5 skos:exactMatch UMLS:C1970010 semapv:UnspecifiedMatching MONDO:0012642 major affective disorder 4 skos:exactMatch MEDGEN:372671 semapv:UnspecifiedMatching MONDO:0012642 major affective disorder 4 skos:exactMatch OMIM:611247 major affective disorder 4 semapv:UnspecifiedMatching MONDO:0012642 major affective disorder 4 skos:exactMatch UMLS:C1970943 semapv:UnspecifiedMatching MONDO:0012642 major affective disorder 4 skos:exactMatch mesh:C567073 semapv:UnspecifiedMatching MONDO:0012643 hereditary spastic paraplegia 32 skos:exactMatch DOID:0110783 hereditary spastic paraplegia 32 semapv:UnspecifiedMatching MONDO:0012643 hereditary spastic paraplegia 32 skos:exactMatch MEDGEN:409967 semapv:UnspecifiedMatching MONDO:0012643 hereditary spastic paraplegia 32 skos:exactMatch OMIM:611252 spastic paraplegia 32, autosomal recessive semapv:UnspecifiedMatching MONDO:0012643 hereditary spastic paraplegia 32 skos:exactMatch Orphanet:171622 Autosomal recessive spastic paraplegia type 32 semapv:UnspecifiedMatching MONDO:0012643 hereditary spastic paraplegia 32 skos:exactMatch SCTID:726606003 semapv:UnspecifiedMatching MONDO:0012643 hereditary spastic paraplegia 32 skos:exactMatch UMLS:C1970009 semapv:UnspecifiedMatching MONDO:0012643 hereditary spastic paraplegia 32 skos:exactMatch mesh:C566983 semapv:UnspecifiedMatching MONDO:0012644 asphyxiating thoracic dystrophy 2 skos:exactMatch DOID:0110086 asphyxiating thoracic dystrophy 2 semapv:UnspecifiedMatching MONDO:0012644 asphyxiating thoracic dystrophy 2 skos:exactMatch MEDGEN:370804 semapv:UnspecifiedMatching MONDO:0012644 asphyxiating thoracic dystrophy 2 skos:exactMatch OMIM:611263 short-rib thoracic dysplasia 2 with or without polydactyly semapv:UnspecifiedMatching MONDO:0012644 asphyxiating thoracic dystrophy 2 skos:exactMatch UMLS:C1970005 semapv:UnspecifiedMatching MONDO:0012644 asphyxiating thoracic dystrophy 2 skos:exactMatch mesh:C566982 semapv:UnspecifiedMatching MONDO:0012645 glaucoma 1, open angle, N skos:exactMatch MEDGEN:370756 semapv:UnspecifiedMatching MONDO:0012645 glaucoma 1, open angle, N skos:exactMatch OMIM:611274 glaucoma 1, open angle, n semapv:UnspecifiedMatching MONDO:0012645 glaucoma 1, open angle, N skos:exactMatch UMLS:C1969812 semapv:UnspecifiedMatching MONDO:0012645 glaucoma 1, open angle, N skos:exactMatch mesh:C566977 semapv:UnspecifiedMatching MONDO:0012646 obsolete glaucoma 1, open angle, H skos:exactMatch OMIM:611276 glaucoma 1, open angle, h semapv:UnspecifiedMatching MONDO:0012646 obsolete glaucoma 1, open angle, H skos:exactMatch mesh:C566976 semapv:UnspecifiedMatching MONDO:0012648 isobutyryl-CoA dehydrogenase deficiency skos:exactMatch MEDGEN:370754 semapv:UnspecifiedMatching MONDO:0012648 isobutyryl-CoA dehydrogenase deficiency skos:exactMatch NCIT:C129975 Isobutyryl-CoA Dehydrogenase Deficiency semapv:UnspecifiedMatching MONDO:0012648 isobutyryl-CoA dehydrogenase deficiency skos:exactMatch OMIM:611283 isobutyryl-coa dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0012648 isobutyryl-CoA dehydrogenase deficiency skos:exactMatch Orphanet:79159 Isobutyryl-CoA dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0012648 isobutyryl-CoA dehydrogenase deficiency skos:exactMatch UMLS:C1969809 semapv:UnspecifiedMatching MONDO:0012648 isobutyryl-CoA dehydrogenase deficiency skos:exactMatch mesh:C535541 semapv:UnspecifiedMatching MONDO:0012650 Cernunnos-XLF deficiency skos:exactMatch DOID:0061090 severe combined immunodeficiency 124 semapv:UnspecifiedMatching MONDO:0012650 Cernunnos-XLF deficiency skos:exactMatch MEDGEN:369590 semapv:UnspecifiedMatching MONDO:0012650 Cernunnos-XLF deficiency skos:exactMatch OMIM:611291 immunodeficiency 124, severe combined semapv:UnspecifiedMatching MONDO:0012650 Cernunnos-XLF deficiency skos:exactMatch Orphanet:169079 Cernunnos-XLF deficiency semapv:UnspecifiedMatching MONDO:0012650 Cernunnos-XLF deficiency skos:exactMatch SCTID:720853005 semapv:UnspecifiedMatching MONDO:0012650 Cernunnos-XLF deficiency skos:exactMatch UMLS:C1969799 semapv:UnspecifiedMatching MONDO:0012650 Cernunnos-XLF deficiency skos:exactMatch mesh:C566970 semapv:UnspecifiedMatching MONDO:0012651 spastic ataxia 2 skos:exactMatch DOID:0050941 spastic ataxia 2 semapv:UnspecifiedMatching MONDO:0012651 spastic ataxia 2 skos:exactMatch MEDGEN:370750 semapv:UnspecifiedMatching MONDO:0012651 spastic ataxia 2 skos:exactMatch OMIM:611302 spastic ataxia 2, autosomal recessive semapv:UnspecifiedMatching MONDO:0012651 spastic ataxia 2 skos:exactMatch Orphanet:397946 Autosomal spastic paraplegia type 58 semapv:UnspecifiedMatching MONDO:0012651 spastic ataxia 2 skos:exactMatch UMLS:C1969796 semapv:UnspecifiedMatching MONDO:0012651 spastic ataxia 2 skos:exactMatch mesh:C566969 semapv:UnspecifiedMatching MONDO:0012652 autosomal recessive limb-girdle muscular dystrophy type 2L skos:exactMatch DOID:0110284 autosomal recessive limb-girdle muscular dystrophy type 2L semapv:UnspecifiedMatching MONDO:0012652 autosomal recessive limb-girdle muscular dystrophy type 2L skos:exactMatch MEDGEN:370102 semapv:UnspecifiedMatching MONDO:0012652 autosomal recessive limb-girdle muscular dystrophy type 2L skos:exactMatch OMIM:611307 muscular dystrophy, limb-girdle, autosomal recessive 12 semapv:UnspecifiedMatching MONDO:0012652 autosomal recessive limb-girdle muscular dystrophy type 2L skos:exactMatch Orphanet:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 semapv:UnspecifiedMatching MONDO:0012652 autosomal recessive limb-girdle muscular dystrophy type 2L skos:exactMatch UMLS:C1969785 semapv:UnspecifiedMatching MONDO:0012652 autosomal recessive limb-girdle muscular dystrophy type 2L skos:exactMatch mesh:C566968 semapv:UnspecifiedMatching MONDO:0012653 persistent hyperplastic primary vitreous, autosomal dominant skos:exactMatch MEDGEN:370101 semapv:UnspecifiedMatching MONDO:0012653 persistent hyperplastic primary vitreous, autosomal dominant skos:exactMatch OMIM:611308 persistent hyperplastic primary vitreous, autosomal dominant semapv:UnspecifiedMatching MONDO:0012653 persistent hyperplastic primary vitreous, autosomal dominant skos:exactMatch UMLS:C1969784 semapv:UnspecifiedMatching MONDO:0012654 atrial septal defect 4 skos:exactMatch DOID:0110109 atrial heart septal defect 4 semapv:UnspecifiedMatching MONDO:0012654 atrial septal defect 4 skos:exactMatch MEDGEN:369556 semapv:UnspecifiedMatching MONDO:0012654 atrial septal defect 4 skos:exactMatch OMIM:611363 atrial septal defect 4 semapv:UnspecifiedMatching MONDO:0012654 atrial septal defect 4 skos:exactMatch UMLS:C1969657 semapv:UnspecifiedMatching MONDO:0012654 atrial septal defect 4 skos:exactMatch mesh:C566963 semapv:UnspecifiedMatching MONDO:0012655 myoclonic epilepsy, juvenile, susceptibility to, 4 skos:exactMatch DOID:0111327 juvenile myoclonic epilepsy 4 semapv:UnspecifiedMatching MONDO:0012655 myoclonic epilepsy, juvenile, susceptibility to, 4 skos:exactMatch MEDGEN:370067 semapv:UnspecifiedMatching MONDO:0012655 myoclonic epilepsy, juvenile, susceptibility to, 4 skos:exactMatch OMIM:611364 myoclonic epilepsy, juvenile, susceptibility to, 4 semapv:UnspecifiedMatching MONDO:0012655 myoclonic epilepsy, juvenile, susceptibility to, 4 skos:exactMatch UMLS:C1969656 semapv:UnspecifiedMatching MONDO:0012656 lethal congenital contracture syndrome 3 skos:exactMatch DOID:0060653 lethal congenital contracture syndrome 3 semapv:UnspecifiedMatching MONDO:0012656 lethal congenital contracture syndrome 3 skos:exactMatch MEDGEN:369555 semapv:UnspecifiedMatching MONDO:0012656 lethal congenital contracture syndrome 3 skos:exactMatch OMIM:611369 lethal congenital contracture syndrome 3 semapv:UnspecifiedMatching MONDO:0012656 lethal congenital contracture syndrome 3 skos:exactMatch Orphanet:137783 Lethal congenital contracture syndrome type 3 semapv:UnspecifiedMatching MONDO:0012656 lethal congenital contracture syndrome 3 skos:exactMatch SCTID:715420005 semapv:UnspecifiedMatching MONDO:0012656 lethal congenital contracture syndrome 3 skos:exactMatch UMLS:C1969655 semapv:UnspecifiedMatching MONDO:0012656 lethal congenital contracture syndrome 3 skos:exactMatch mesh:C566961 semapv:UnspecifiedMatching MONDO:0012657 Mungan syndrome skos:exactMatch MEDGEN:369554 semapv:UnspecifiedMatching MONDO:0012657 Mungan syndrome skos:exactMatch OMIM:611376 mungan syndrome semapv:UnspecifiedMatching MONDO:0012657 Mungan syndrome skos:exactMatch UMLS:C1969653 semapv:UnspecifiedMatching MONDO:0012657 Mungan syndrome skos:exactMatch mesh:C548078 semapv:UnspecifiedMatching MONDO:0012658 brachydactyly type B2 skos:exactMatch DOID:0110975 brachydactyly type B2 semapv:UnspecifiedMatching MONDO:0012658 brachydactyly type B2 skos:exactMatch MEDGEN:409880 semapv:UnspecifiedMatching MONDO:0012658 brachydactyly type B2 skos:exactMatch OMIM:611377 brachydactyly, type b2 semapv:UnspecifiedMatching MONDO:0012658 brachydactyly type B2 skos:exactMatch Orphanet:140908 Brachydactyly type B2 semapv:UnspecifiedMatching MONDO:0012658 brachydactyly type B2 skos:exactMatch SCTID:770406002 semapv:UnspecifiedMatching MONDO:0012658 brachydactyly type B2 skos:exactMatch UMLS:C1969652 semapv:UnspecifiedMatching MONDO:0012658 brachydactyly type B2 skos:exactMatch icd11.foundation:891810441 Brachydactyly type B2 semapv:UnspecifiedMatching MONDO:0012659 age related macular degeneration 9 skos:exactMatch DOID:0110021 age related macular degeneration 9 semapv:UnspecifiedMatching MONDO:0012659 age related macular degeneration 9 skos:exactMatch MEDGEN:370717 semapv:UnspecifiedMatching MONDO:0012659 age related macular degeneration 9 skos:exactMatch OMIM:611378 macular degeneration, age-related, 9 semapv:UnspecifiedMatching MONDO:0012659 age related macular degeneration 9 skos:exactMatch UMLS:C1969651 semapv:UnspecifiedMatching MONDO:0012659 age related macular degeneration 9 skos:exactMatch mesh:C566958 semapv:UnspecifiedMatching MONDO:0012660 susceptibility to visceral leishmaniasis, 2 skos:exactMatch MEDGEN:409879 semapv:UnspecifiedMatching MONDO:0012660 susceptibility to visceral leishmaniasis, 2 skos:exactMatch OMIM:611381 kala-azar, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0012660 susceptibility to visceral leishmaniasis, 2 skos:exactMatch UMLS:C1969649 semapv:UnspecifiedMatching MONDO:0012661 susceptibility to visceral leishmaniasis, 3 skos:exactMatch MEDGEN:370066 semapv:UnspecifiedMatching MONDO:0012661 susceptibility to visceral leishmaniasis, 3 skos:exactMatch OMIM:611382 kala-azar, susceptibility to, 3 semapv:UnspecifiedMatching MONDO:0012661 susceptibility to visceral leishmaniasis, 3 skos:exactMatch UMLS:C1969648 semapv:UnspecifiedMatching MONDO:0012662 Usher syndrome type 2D skos:exactMatch DOID:0110840 Usher syndrome type 2D semapv:UnspecifiedMatching MONDO:0012662 Usher syndrome type 2D skos:exactMatch MEDGEN:292821 semapv:UnspecifiedMatching MONDO:0012662 Usher syndrome type 2D skos:exactMatch OMIM:611383 usher syndrome, type 2d semapv:UnspecifiedMatching MONDO:0012662 Usher syndrome type 2D skos:exactMatch UMLS:C1568249 semapv:UnspecifiedMatching MONDO:0012663 obsolete Plasmodium falciparum fever episodes quantitative trait locus 1 skos:exactMatch OMIM:611384 plasmodium falciparum fever episodes quantitative trait locus 1 semapv:UnspecifiedMatching MONDO:0012664 spastic ataxia 3 skos:exactMatch DOID:0050942 spastic ataxia 3 semapv:UnspecifiedMatching MONDO:0012664 spastic ataxia 3 skos:exactMatch MEDGEN:370715 semapv:UnspecifiedMatching MONDO:0012664 spastic ataxia 3 skos:exactMatch OMIM:611390 spastic ataxia 3, autosomal recessive semapv:UnspecifiedMatching MONDO:0012664 spastic ataxia 3 skos:exactMatch Orphanet:314603 Autosomal recessive spastic ataxia with leukoencephalopathy semapv:UnspecifiedMatching MONDO:0012664 spastic ataxia 3 skos:exactMatch UMLS:C1969645 semapv:UnspecifiedMatching MONDO:0012664 spastic ataxia 3 skos:exactMatch mesh:C566956 semapv:UnspecifiedMatching MONDO:0012665 cataract 33 skos:exactMatch DOID:0110264 cataract 33 semapv:UnspecifiedMatching MONDO:0012665 cataract 33 skos:exactMatch MEDGEN:814437 semapv:UnspecifiedMatching MONDO:0012665 cataract 33 skos:exactMatch OMIM:611391 cataract 33, multiple types semapv:UnspecifiedMatching MONDO:0012665 cataract 33 skos:exactMatch UMLS:C3808107 semapv:UnspecifiedMatching MONDO:0012665 cataract 33 skos:exactMatch mesh:C566955 semapv:UnspecifiedMatching MONDO:0012666 asthma-related traits, susceptibility to, 6 skos:exactMatch MEDGEN:409877 semapv:UnspecifiedMatching MONDO:0012666 asthma-related traits, susceptibility to, 6 skos:exactMatch OMIM:611403 asthma-related traits, susceptibility to, 6 semapv:UnspecifiedMatching MONDO:0012666 asthma-related traits, susceptibility to, 6 skos:exactMatch UMLS:C1969640 semapv:UnspecifiedMatching MONDO:0012667 dilated cardiomyopathy 1W skos:exactMatch DOID:0110446 dilated cardiomyopathy 1W semapv:UnspecifiedMatching MONDO:0012667 dilated cardiomyopathy 1W skos:exactMatch MEDGEN:370063 semapv:UnspecifiedMatching MONDO:0012667 dilated cardiomyopathy 1W skos:exactMatch OMIM:611407 cardiomyopathy, dilated, 1w semapv:UnspecifiedMatching MONDO:0012667 dilated cardiomyopathy 1W skos:exactMatch UMLS:C1969639 semapv:UnspecifiedMatching MONDO:0012667 dilated cardiomyopathy 1W skos:exactMatch mesh:C566954 semapv:UnspecifiedMatching MONDO:0012668 Tented eyebrows skos:exactMatch MEDGEN:370710 semapv:UnspecifiedMatching MONDO:0012668 Tented eyebrows skos:exactMatch OMIM:611426 tented eyebrows semapv:UnspecifiedMatching MONDO:0012668 Tented eyebrows skos:exactMatch UMLS:C1969624 semapv:UnspecifiedMatching MONDO:0012669 Legius syndrome skos:exactMatch DOID:0070484 Legius syndrome semapv:UnspecifiedMatching MONDO:0012669 Legius syndrome skos:exactMatch MEDGEN:370709 semapv:UnspecifiedMatching MONDO:0012669 Legius syndrome skos:exactMatch NCIT:C176941 Legius Syndrome semapv:UnspecifiedMatching MONDO:0012669 Legius syndrome skos:exactMatch OMIM:611431 legius syndrome semapv:UnspecifiedMatching MONDO:0012669 Legius syndrome skos:exactMatch Orphanet:137605 Legius syndrome semapv:UnspecifiedMatching MONDO:0012669 Legius syndrome skos:exactMatch SCTID:703541007 semapv:UnspecifiedMatching MONDO:0012669 Legius syndrome skos:exactMatch UMLS:C1969623 semapv:UnspecifiedMatching MONDO:0012669 Legius syndrome skos:exactMatch icd11.foundation:1025118245 Legius syndrome semapv:UnspecifiedMatching MONDO:0012669 Legius syndrome skos:exactMatch mesh:C548032 semapv:UnspecifiedMatching MONDO:0012670 autosomal recessive nonsyndromic hearing loss 63 skos:exactMatch DOID:0110515 autosomal recessive nonsyndromic deafness 63 semapv:UnspecifiedMatching MONDO:0012670 autosomal recessive nonsyndromic hearing loss 63 skos:exactMatch MEDGEN:409872 semapv:UnspecifiedMatching MONDO:0012670 autosomal recessive nonsyndromic hearing loss 63 skos:exactMatch OMIM:611451 deafness, autosomal recessive 63 semapv:UnspecifiedMatching MONDO:0012670 autosomal recessive nonsyndromic hearing loss 63 skos:exactMatch UMLS:C1969621 semapv:UnspecifiedMatching MONDO:0012670 autosomal recessive nonsyndromic hearing loss 63 skos:exactMatch mesh:C566951 semapv:UnspecifiedMatching MONDO:0012671 tremor, hereditary essential, 3 skos:exactMatch DOID:0111430 essential tremor 3 semapv:UnspecifiedMatching MONDO:0012671 tremor, hereditary essential, 3 skos:exactMatch MEDGEN:409870 semapv:UnspecifiedMatching MONDO:0012671 tremor, hereditary essential, 3 skos:exactMatch OMIM:611456 tremor, hereditary essential, 3 semapv:UnspecifiedMatching MONDO:0012671 tremor, hereditary essential, 3 skos:exactMatch UMLS:C1969617 semapv:UnspecifiedMatching MONDO:0012671 tremor, hereditary essential, 3 skos:exactMatch mesh:C566949 semapv:UnspecifiedMatching MONDO:0012672 cholelithiasis skos:exactMatch DOID:10211 cholelithiasis semapv:UnspecifiedMatching MONDO:0012672 cholelithiasis skos:exactMatch EFO:0004799 semapv:UnspecifiedMatching MONDO:0012672 cholelithiasis skos:exactMatch ICD10CM:K80 Cholelithiasis semapv:UnspecifiedMatching MONDO:0012672 cholelithiasis skos:exactMatch ICD10WHO:K80 Cholelithiasis semapv:UnspecifiedMatching MONDO:0012672 cholelithiasis skos:exactMatch MEDGEN:3039 semapv:UnspecifiedMatching MONDO:0012672 cholelithiasis skos:exactMatch NCIT:C122822 Cholelithiasis semapv:UnspecifiedMatching MONDO:0012672 cholelithiasis skos:exactMatch SCTID:266474003 semapv:UnspecifiedMatching MONDO:0012672 cholelithiasis skos:exactMatch UMLS:C0008350 semapv:UnspecifiedMatching MONDO:0012672 cholelithiasis skos:exactMatch icd11.foundation:1268183934 Cholelithiasis semapv:UnspecifiedMatching MONDO:0012672 cholelithiasis skos:exactMatch mesh:D002769 semapv:UnspecifiedMatching MONDO:0012673 colorectal cancer, susceptibility to, 2 skos:exactMatch MEDGEN:369417 semapv:UnspecifiedMatching MONDO:0012673 colorectal cancer, susceptibility to, 2 skos:exactMatch OMIM:611469 colorectal cancer, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0012673 colorectal cancer, susceptibility to, 2 skos:exactMatch UMLS:C1969113 semapv:UnspecifiedMatching MONDO:0012674 age related macular degeneration 10 skos:exactMatch DOID:0110022 age related macular degeneration 10 semapv:UnspecifiedMatching MONDO:0012674 age related macular degeneration 10 skos:exactMatch MEDGEN:409758 semapv:UnspecifiedMatching MONDO:0012674 age related macular degeneration 10 skos:exactMatch OMIM:611488 macular degeneration, age-related, 10 semapv:UnspecifiedMatching MONDO:0012674 age related macular degeneration 10 skos:exactMatch UMLS:C1969108 semapv:UnspecifiedMatching MONDO:0012674 age related macular degeneration 10 skos:exactMatch mesh:C566935 semapv:UnspecifiedMatching MONDO:0012675 corticosteroid-binding globulin deficiency skos:exactMatch DOID:0090030 corticosteroid-binding globulin deficiency semapv:UnspecifiedMatching MONDO:0012675 corticosteroid-binding globulin deficiency skos:exactMatch MEDGEN:343831 semapv:UnspecifiedMatching MONDO:0012675 corticosteroid-binding globulin deficiency skos:exactMatch OMIM:611489 corticosteroid-binding globulin deficiency semapv:UnspecifiedMatching MONDO:0012675 corticosteroid-binding globulin deficiency skos:exactMatch Orphanet:199247 Corticosteroid-binding globulin deficiency semapv:UnspecifiedMatching MONDO:0012675 corticosteroid-binding globulin deficiency skos:exactMatch UMLS:C1852529 semapv:UnspecifiedMatching MONDO:0012676 autosomal recessive osteopetrosis 4 skos:exactMatch DOID:0110944 autosomal recessive osteopetrosis 4 semapv:UnspecifiedMatching MONDO:0012676 autosomal recessive osteopetrosis 4 skos:exactMatch MEDGEN:370598 semapv:UnspecifiedMatching MONDO:0012676 autosomal recessive osteopetrosis 4 skos:exactMatch OMIM:611490 osteopetrosis, autosomal recessive 4 semapv:UnspecifiedMatching MONDO:0012676 autosomal recessive osteopetrosis 4 skos:exactMatch UMLS:C1969106 semapv:UnspecifiedMatching MONDO:0012676 autosomal recessive osteopetrosis 4 skos:exactMatch mesh:C566933 semapv:UnspecifiedMatching MONDO:0012677 atrial fibrillation, familial, 4 skos:exactMatch MEDGEN:400041 semapv:UnspecifiedMatching MONDO:0012677 atrial fibrillation, familial, 4 skos:exactMatch OMIM:611493 atrial fibrillation, familial, 4 semapv:UnspecifiedMatching MONDO:0012677 atrial fibrillation, familial, 4 skos:exactMatch UMLS:C1862394 semapv:UnspecifiedMatching MONDO:0012677 atrial fibrillation, familial, 4 skos:exactMatch mesh:C566244 semapv:UnspecifiedMatching MONDO:0012678 atrial fibrillation, familial, 5 skos:exactMatch MEDGEN:369411 semapv:UnspecifiedMatching MONDO:0012678 atrial fibrillation, familial, 5 skos:exactMatch OMIM:611494 atrial fibrillation, familial, 5 semapv:UnspecifiedMatching MONDO:0012678 atrial fibrillation, familial, 5 skos:exactMatch UMLS:C1969099 semapv:UnspecifiedMatching MONDO:0012678 atrial fibrillation, familial, 5 skos:exactMatch mesh:C566932 semapv:UnspecifiedMatching MONDO:0012679 autosomal recessive osteopetrosis 6 skos:exactMatch DOID:0110945 autosomal recessive osteopetrosis 6 semapv:UnspecifiedMatching MONDO:0012679 autosomal recessive osteopetrosis 6 skos:exactMatch MEDGEN:409754 semapv:UnspecifiedMatching MONDO:0012679 autosomal recessive osteopetrosis 6 skos:exactMatch OMIM:611497 osteopetrosis, autosomal recessive 6 semapv:UnspecifiedMatching MONDO:0012679 autosomal recessive osteopetrosis 6 skos:exactMatch Orphanet:210110 Intermediate osteopetrosis semapv:UnspecifiedMatching MONDO:0012679 autosomal recessive osteopetrosis 6 skos:exactMatch UMLS:C1969093 semapv:UnspecifiedMatching MONDO:0012679 autosomal recessive osteopetrosis 6 skos:exactMatch mesh:C566931 semapv:UnspecifiedMatching MONDO:0012680 nephronophthisis 7 skos:exactMatch DOID:0111116 nephronophthisis 7 semapv:UnspecifiedMatching MONDO:0012680 nephronophthisis 7 skos:exactMatch MEDGEN:369409 semapv:UnspecifiedMatching MONDO:0012680 nephronophthisis 7 skos:exactMatch OMIM:611498 nephronophthisis 7 semapv:UnspecifiedMatching MONDO:0012680 nephronophthisis 7 skos:exactMatch UMLS:C1969092 semapv:UnspecifiedMatching MONDO:0012680 nephronophthisis 7 skos:exactMatch mesh:C566930 semapv:UnspecifiedMatching MONDO:0012681 febrile seizures, familial, 7 skos:exactMatch DOID:0111311 familial febrile seizures 7 semapv:UnspecifiedMatching MONDO:0012681 febrile seizures, familial, 7 skos:exactMatch MEDGEN:369406 semapv:UnspecifiedMatching MONDO:0012681 febrile seizures, familial, 7 skos:exactMatch OMIM:611515 febrile seizures, familial, 7 semapv:UnspecifiedMatching MONDO:0012681 febrile seizures, familial, 7 skos:exactMatch UMLS:C1969087 semapv:UnspecifiedMatching MONDO:0012681 febrile seizures, familial, 7 skos:exactMatch mesh:C566929 semapv:UnspecifiedMatching MONDO:0012682 immunodeficiency 35 skos:exactMatch DOID:0111989 immunodeficiency 35 semapv:UnspecifiedMatching MONDO:0012682 immunodeficiency 35 skos:exactMatch MEDGEN:409751 semapv:UnspecifiedMatching MONDO:0012682 immunodeficiency 35 skos:exactMatch OMIM:611521 immunodeficiency 35 semapv:UnspecifiedMatching MONDO:0012682 immunodeficiency 35 skos:exactMatch Orphanet:331226 Susceptibility to infection due to TYK2 deficiency semapv:UnspecifiedMatching MONDO:0012682 immunodeficiency 35 skos:exactMatch UMLS:C1969086 semapv:UnspecifiedMatching MONDO:0012682 immunodeficiency 35 skos:exactMatch mesh:C566928 semapv:UnspecifiedMatching MONDO:0012683 pontocerebellar hypoplasia type 6 skos:exactMatch DOID:0060275 pontocerebellar hypoplasia type 6 semapv:UnspecifiedMatching MONDO:0012683 pontocerebellar hypoplasia type 6 skos:exactMatch MEDGEN:370596 semapv:UnspecifiedMatching MONDO:0012683 pontocerebellar hypoplasia type 6 skos:exactMatch OMIM:611523 pontocerebellar hypoplasia, type 6 semapv:UnspecifiedMatching MONDO:0012683 pontocerebellar hypoplasia type 6 skos:exactMatch Orphanet:166073 Pontocerebellar hypoplasia type 6 semapv:UnspecifiedMatching MONDO:0012683 pontocerebellar hypoplasia type 6 skos:exactMatch SCTID:718606005 semapv:UnspecifiedMatching MONDO:0012683 pontocerebellar hypoplasia type 6 skos:exactMatch UMLS:C1969084 semapv:UnspecifiedMatching MONDO:0012683 pontocerebellar hypoplasia type 6 skos:exactMatch icd11.foundation:1612653027 Pontocerebellar hypoplasia type 6 semapv:UnspecifiedMatching MONDO:0012683 pontocerebellar hypoplasia type 6 skos:exactMatch mesh:C548074 semapv:UnspecifiedMatching MONDO:0012684 arrhythmogenic right ventricular dysplasia 12 skos:exactMatch DOID:0110083 arrhythmogenic right ventricular dysplasia 12 semapv:UnspecifiedMatching MONDO:0012684 arrhythmogenic right ventricular dysplasia 12 skos:exactMatch MEDGEN:409749 semapv:UnspecifiedMatching MONDO:0012684 arrhythmogenic right ventricular dysplasia 12 skos:exactMatch OMIM:611528 arrhythmogenic right ventricular dysplasia, familial, 12 semapv:UnspecifiedMatching MONDO:0012684 arrhythmogenic right ventricular dysplasia 12 skos:exactMatch UMLS:C1969081 semapv:UnspecifiedMatching MONDO:0012684 arrhythmogenic right ventricular dysplasia 12 skos:exactMatch mesh:C566925 semapv:UnspecifiedMatching MONDO:0012685 major affective disorder 5 skos:exactMatch MEDGEN:372672 semapv:UnspecifiedMatching MONDO:0012685 major affective disorder 5 skos:exactMatch OMIM:611535 major affective disorder 5 semapv:UnspecifiedMatching MONDO:0012685 major affective disorder 5 skos:exactMatch UMLS:C1970944 semapv:UnspecifiedMatching MONDO:0012685 major affective disorder 5 skos:exactMatch mesh:C567074 semapv:UnspecifiedMatching MONDO:0012686 major affective disorder 6 skos:exactMatch MEDGEN:372673 semapv:UnspecifiedMatching MONDO:0012686 major affective disorder 6 skos:exactMatch OMIM:611536 major affective disorder 6 semapv:UnspecifiedMatching MONDO:0012686 major affective disorder 6 skos:exactMatch UMLS:C1970945 semapv:UnspecifiedMatching MONDO:0012686 major affective disorder 6 skos:exactMatch mesh:C567075 semapv:UnspecifiedMatching MONDO:0012687 familial cavitary optic disk anomaly skos:exactMatch MEDGEN:370593 semapv:UnspecifiedMatching MONDO:0012687 familial cavitary optic disk anomaly skos:exactMatch OMIM:611543 cavitary optic disc anomalies semapv:UnspecifiedMatching MONDO:0012687 familial cavitary optic disk anomaly skos:exactMatch Orphanet:464760 Familial cavitary optic disc anomaly semapv:UnspecifiedMatching MONDO:0012687 familial cavitary optic disk anomaly skos:exactMatch UMLS:C1969063 semapv:UnspecifiedMatching MONDO:0012687 familial cavitary optic disk anomaly skos:exactMatch mesh:C566924 semapv:UnspecifiedMatching MONDO:0012688 cataract 17 multiple types skos:exactMatch DOID:0110270 cataract 17 multiple types semapv:UnspecifiedMatching MONDO:0012688 cataract 17 multiple types skos:exactMatch MEDGEN:854781 semapv:UnspecifiedMatching MONDO:0012688 cataract 17 multiple types skos:exactMatch OMIM:611544 cataract 17, multiple types semapv:UnspecifiedMatching MONDO:0012688 cataract 17 multiple types skos:exactMatch UMLS:C3888124 semapv:UnspecifiedMatching MONDO:0012688 cataract 17 multiple types skos:exactMatch mesh:C566923 semapv:UnspecifiedMatching MONDO:0012689 premature ovarian failure 5 skos:exactMatch DOID:0080862 primary ovarian insufficiency 5 semapv:UnspecifiedMatching MONDO:0012689 premature ovarian failure 5 skos:exactMatch MEDGEN:409743 semapv:UnspecifiedMatching MONDO:0012689 premature ovarian failure 5 skos:exactMatch OMIM:611548 premature ovarian failure 5 semapv:UnspecifiedMatching MONDO:0012689 premature ovarian failure 5 skos:exactMatch UMLS:C1969060 semapv:UnspecifiedMatching MONDO:0012689 premature ovarian failure 5 skos:exactMatch mesh:C566921 semapv:UnspecifiedMatching MONDO:0012690 Noonan syndrome 5 skos:exactMatch DOID:0060583 Noonan syndrome 5 semapv:UnspecifiedMatching MONDO:0012690 Noonan syndrome 5 skos:exactMatch MEDGEN:370589 semapv:UnspecifiedMatching MONDO:0012690 Noonan syndrome 5 skos:exactMatch NCIT:C176933 Noonan Syndrome 5 semapv:UnspecifiedMatching MONDO:0012690 Noonan syndrome 5 skos:exactMatch OMIM:611553 noonan syndrome 5 semapv:UnspecifiedMatching MONDO:0012690 Noonan syndrome 5 skos:exactMatch UMLS:C1969057 semapv:UnspecifiedMatching MONDO:0012690 Noonan syndrome 5 skos:exactMatch mesh:C548083 semapv:UnspecifiedMatching MONDO:0012691 LEOPARD syndrome 2 skos:exactMatch DOID:0080549 Noonan syndrome with multiple lentigines 2 semapv:UnspecifiedMatching MONDO:0012691 LEOPARD syndrome 2 skos:exactMatch MEDGEN:370588 semapv:UnspecifiedMatching MONDO:0012691 LEOPARD syndrome 2 skos:exactMatch OMIM:611554 leopard syndrome 2 semapv:UnspecifiedMatching MONDO:0012691 LEOPARD syndrome 2 skos:exactMatch UMLS:C1969056 semapv:UnspecifiedMatching MONDO:0012691 LEOPARD syndrome 2 skos:exactMatch mesh:C537117 semapv:UnspecifiedMatching MONDO:0012692 renal tubular acidosis, distal, with nephrocalcinosis, short stature, intellectual disability, and distinctive facies skos:exactMatch MEDGEN:370587 semapv:UnspecifiedMatching MONDO:0012692 renal tubular acidosis, distal, with nephrocalcinosis, short stature, intellectual disability, and distinctive facies skos:exactMatch OMIM:611555 renal tubular acidosis, distal, with nephrocalcinosis, short stature, impaired intellectual development, and distinctive facies semapv:UnspecifiedMatching MONDO:0012692 renal tubular acidosis, distal, with nephrocalcinosis, short stature, intellectual disability, and distinctive facies skos:exactMatch UMLS:C1969055 semapv:UnspecifiedMatching MONDO:0012692 renal tubular acidosis, distal, with nephrocalcinosis, short stature, intellectual disability, and distinctive facies skos:exactMatch mesh:C566918 semapv:UnspecifiedMatching MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency skos:exactMatch MEDGEN:409741 semapv:UnspecifiedMatching MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency skos:exactMatch OMIM:611556 glycogen storage disease 0, muscle semapv:UnspecifiedMatching MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency skos:exactMatch Orphanet:137625 Glycogen storage disease due to muscle and heart glycogen synthase deficiency semapv:UnspecifiedMatching MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency skos:exactMatch SCTID:725027004 semapv:UnspecifiedMatching MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency skos:exactMatch UMLS:C1969054 semapv:UnspecifiedMatching MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency skos:exactMatch mesh:C566917 semapv:UnspecifiedMatching MONDO:0012694 Joubert syndrome 7 skos:exactMatch DOID:0111002 Joubert syndrome 7 semapv:UnspecifiedMatching MONDO:0012694 Joubert syndrome 7 skos:exactMatch MEDGEN:369401 semapv:UnspecifiedMatching MONDO:0012694 Joubert syndrome 7 skos:exactMatch NCIT:C159653 Joubert Syndrome 7 semapv:UnspecifiedMatching MONDO:0012694 Joubert syndrome 7 skos:exactMatch OMIM:611560 joubert syndrome 7 semapv:UnspecifiedMatching MONDO:0012694 Joubert syndrome 7 skos:exactMatch UMLS:C1969053 semapv:UnspecifiedMatching MONDO:0012694 Joubert syndrome 7 skos:exactMatch mesh:C566916 semapv:UnspecifiedMatching MONDO:0012695 Meckel syndrome, type 5 skos:exactMatch DOID:0070119 Meckel syndrome 5 semapv:UnspecifiedMatching MONDO:0012695 Meckel syndrome, type 5 skos:exactMatch MEDGEN:409740 semapv:UnspecifiedMatching MONDO:0012695 Meckel syndrome, type 5 skos:exactMatch OMIM:611561 meckel syndrome, type 5 semapv:UnspecifiedMatching MONDO:0012695 Meckel syndrome, type 5 skos:exactMatch UMLS:C1969052 semapv:UnspecifiedMatching MONDO:0012695 Meckel syndrome, type 5 skos:exactMatch mesh:C566915 semapv:UnspecifiedMatching MONDO:0012696 otosclerosis 4 skos:exactMatch DOID:0060923 otosclerosis 4 semapv:UnspecifiedMatching MONDO:0012696 otosclerosis 4 skos:exactMatch MEDGEN:369916 semapv:UnspecifiedMatching MONDO:0012696 otosclerosis 4 skos:exactMatch OMIM:611571 otosclerosis 4 semapv:UnspecifiedMatching MONDO:0012696 otosclerosis 4 skos:exactMatch UMLS:C1969046 semapv:UnspecifiedMatching MONDO:0012696 otosclerosis 4 skos:exactMatch mesh:C566914 semapv:UnspecifiedMatching MONDO:0012697 otosclerosis 7 skos:exactMatch DOID:0060925 otosclerosis 7 semapv:UnspecifiedMatching MONDO:0012697 otosclerosis 7 skos:exactMatch MEDGEN:409738 semapv:UnspecifiedMatching MONDO:0012697 otosclerosis 7 skos:exactMatch OMIM:611572 otosclerosis 7 semapv:UnspecifiedMatching MONDO:0012697 otosclerosis 7 skos:exactMatch UMLS:C1969044 semapv:UnspecifiedMatching MONDO:0012697 otosclerosis 7 skos:exactMatch mesh:C566913 semapv:UnspecifiedMatching MONDO:0012698 Waardenburg syndrome type 2E skos:exactMatch DOID:0110956 Waardenburg syndrome type 2E semapv:UnspecifiedMatching MONDO:0012698 Waardenburg syndrome type 2E skos:exactMatch MEDGEN:398476 semapv:UnspecifiedMatching MONDO:0012698 Waardenburg syndrome type 2E skos:exactMatch OMIM:611584 waardenburg syndrome, type 2e semapv:UnspecifiedMatching MONDO:0012698 Waardenburg syndrome type 2E skos:exactMatch UMLS:C2700405 semapv:UnspecifiedMatching MONDO:0012699 autosomal recessive limb-girdle muscular dystrophy type 2M skos:exactMatch DOID:0110296 autosomal recessive limb-girdle muscular dystrophy type 2M semapv:UnspecifiedMatching MONDO:0012699 autosomal recessive limb-girdle muscular dystrophy type 2M skos:exactMatch MEDGEN:370585 semapv:UnspecifiedMatching MONDO:0012699 autosomal recessive limb-girdle muscular dystrophy type 2M skos:exactMatch OMIM:611588 muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 4 semapv:UnspecifiedMatching MONDO:0012699 autosomal recessive limb-girdle muscular dystrophy type 2M skos:exactMatch Orphanet:206554 Fukutin-related limb-girdle muscular dystrophy R13 semapv:UnspecifiedMatching MONDO:0012699 autosomal recessive limb-girdle muscular dystrophy type 2M skos:exactMatch UMLS:C1969040 semapv:UnspecifiedMatching MONDO:0012699 autosomal recessive limb-girdle muscular dystrophy type 2M skos:exactMatch mesh:C566912 semapv:UnspecifiedMatching MONDO:0012700 renal tubular acidosis, distal, 4, with hemolytic anemia skos:exactMatch MEDGEN:1771439 semapv:UnspecifiedMatching MONDO:0012700 renal tubular acidosis, distal, 4, with hemolytic anemia skos:exactMatch OMIM:611590 renal tubular acidosis, distal, 4, with hemolytic anemia semapv:UnspecifiedMatching MONDO:0012700 renal tubular acidosis, distal, 4, with hemolytic anemia skos:exactMatch Orphanet:93610 Distal renal tubular acidosis with anemia semapv:UnspecifiedMatching MONDO:0012700 renal tubular acidosis, distal, 4, with hemolytic anemia skos:exactMatch UMLS:C5436235 semapv:UnspecifiedMatching MONDO:0012701 cataract 12 multiple types skos:exactMatch DOID:0110239 cataract 12 multiple types semapv:UnspecifiedMatching MONDO:0012701 cataract 12 multiple types skos:exactMatch MEDGEN:814445 semapv:UnspecifiedMatching MONDO:0012701 cataract 12 multiple types skos:exactMatch OMIM:611597 cataract 12, multiple types semapv:UnspecifiedMatching MONDO:0012701 cataract 12 multiple types skos:exactMatch UMLS:C3808115 semapv:UnspecifiedMatching MONDO:0012701 cataract 12 multiple types skos:exactMatch mesh:C566909 semapv:UnspecifiedMatching MONDO:0012702 celiac disease, susceptibility to, 6 skos:exactMatch MEDGEN:369397 semapv:UnspecifiedMatching MONDO:0012702 celiac disease, susceptibility to, 6 skos:exactMatch OMIM:611598 celiac disease, susceptibility to, 6 semapv:UnspecifiedMatching MONDO:0012702 celiac disease, susceptibility to, 6 skos:exactMatch UMLS:C1969030 semapv:UnspecifiedMatching MONDO:0012703 lissencephaly due to TUBA1A mutation skos:exactMatch MEDGEN:930822 semapv:UnspecifiedMatching MONDO:0012703 lissencephaly due to TUBA1A mutation skos:exactMatch NCIT:C148461 Lissencephaly 3 semapv:UnspecifiedMatching MONDO:0012703 lissencephaly due to TUBA1A mutation skos:exactMatch OMIM:611603 lissencephaly 3 semapv:UnspecifiedMatching MONDO:0012703 lissencephaly due to TUBA1A mutation skos:exactMatch Orphanet:171680 Lissencephaly due to TUBA1A mutation semapv:UnspecifiedMatching MONDO:0012703 lissencephaly due to TUBA1A mutation skos:exactMatch UMLS:C4305153 semapv:UnspecifiedMatching MONDO:0012703 lissencephaly due to TUBA1A mutation skos:exactMatch mesh:C566908 semapv:UnspecifiedMatching MONDO:0012704 dilated cardiomyopathy 1X skos:exactMatch DOID:0110444 dilated cardiomyopathy 1X semapv:UnspecifiedMatching MONDO:0012704 dilated cardiomyopathy 1X skos:exactMatch MEDGEN:370583 semapv:UnspecifiedMatching MONDO:0012704 dilated cardiomyopathy 1X skos:exactMatch OMIM:611615 cardiomyopathy, dilated, 1x semapv:UnspecifiedMatching MONDO:0012704 dilated cardiomyopathy 1X skos:exactMatch UMLS:C1969024 semapv:UnspecifiedMatching MONDO:0012704 dilated cardiomyopathy 1X skos:exactMatch mesh:C566907 semapv:UnspecifiedMatching MONDO:0012705 familial temporal lobe epilepsy 3 skos:exactMatch DOID:0060750 familial temporal lobe epilepsy 3 semapv:UnspecifiedMatching MONDO:0012705 familial temporal lobe epilepsy 3 skos:exactMatch MEDGEN:368898 semapv:UnspecifiedMatching MONDO:0012705 familial temporal lobe epilepsy 3 skos:exactMatch OMIM:611630 epilepsy, familial temporal lobe, 3 semapv:UnspecifiedMatching MONDO:0012705 familial temporal lobe epilepsy 3 skos:exactMatch UMLS:C1968848 semapv:UnspecifiedMatching MONDO:0012705 familial temporal lobe epilepsy 3 skos:exactMatch mesh:C566903 semapv:UnspecifiedMatching MONDO:0012706 familial temporal lobe epilepsy 4 skos:exactMatch DOID:0060753 familial temporal lobe epilepsy 4 semapv:UnspecifiedMatching MONDO:0012706 familial temporal lobe epilepsy 4 skos:exactMatch MEDGEN:368897 semapv:UnspecifiedMatching MONDO:0012706 familial temporal lobe epilepsy 4 skos:exactMatch OMIM:611631 epilepsy, familial temporal lobe, 4 semapv:UnspecifiedMatching MONDO:0012706 familial temporal lobe epilepsy 4 skos:exactMatch UMLS:C1968847 semapv:UnspecifiedMatching MONDO:0012706 familial temporal lobe epilepsy 4 skos:exactMatch mesh:C566902 semapv:UnspecifiedMatching MONDO:0012707 familial febrile seizures 9 skos:exactMatch DOID:0111303 familial febrile seizures 9 semapv:UnspecifiedMatching MONDO:0012707 familial febrile seizures 9 skos:exactMatch MEDGEN:369868 semapv:UnspecifiedMatching MONDO:0012707 familial febrile seizures 9 skos:exactMatch OMIM:611634 febrile seizures, familial, 9 semapv:UnspecifiedMatching MONDO:0012707 familial febrile seizures 9 skos:exactMatch UMLS:C1968846 semapv:UnspecifiedMatching MONDO:0012707 familial febrile seizures 9 skos:exactMatch mesh:C566901 semapv:UnspecifiedMatching MONDO:0012708 primary lateral sclerosis, adult, 1 skos:exactMatch MEDGEN:369357 semapv:UnspecifiedMatching MONDO:0012708 primary lateral sclerosis, adult, 1 skos:exactMatch OMIM:611637 primary lateral sclerosis, adult, 1 semapv:UnspecifiedMatching MONDO:0012708 primary lateral sclerosis, adult, 1 skos:exactMatch UMLS:C1968845 semapv:UnspecifiedMatching MONDO:0012708 primary lateral sclerosis, adult, 1 skos:exactMatch mesh:C566900 semapv:UnspecifiedMatching MONDO:0012709 microphthalmia, isolated, with coloboma 5 skos:exactMatch MEDGEN:369356 semapv:UnspecifiedMatching MONDO:0012709 microphthalmia, isolated, with coloboma 5 skos:exactMatch OMIM:611638 microphthalmia/coloboma 5 semapv:UnspecifiedMatching MONDO:0012709 microphthalmia, isolated, with coloboma 5 skos:exactMatch UMLS:C1968843 semapv:UnspecifiedMatching MONDO:0012709 microphthalmia, isolated, with coloboma 5 skos:exactMatch mesh:C566899 semapv:UnspecifiedMatching MONDO:0012710 Hirschsprung disease, susceptibility to, 9 skos:exactMatch MEDGEN:369866 semapv:UnspecifiedMatching MONDO:0012710 Hirschsprung disease, susceptibility to, 9 skos:exactMatch OMIM:611644 hirschsprung disease, susceptibility to, 9 semapv:UnspecifiedMatching MONDO:0012710 Hirschsprung disease, susceptibility to, 9 skos:exactMatch UMLS:C1968840 semapv:UnspecifiedMatching MONDO:0012711 peripapillary atrophy, beta type skos:exactMatch MEDGEN:409689 semapv:UnspecifiedMatching MONDO:0012711 peripapillary atrophy, beta type skos:exactMatch OMIM:611650 peripapillary atrophy, beta type semapv:UnspecifiedMatching MONDO:0012711 peripapillary atrophy, beta type skos:exactMatch UMLS:C1968838 semapv:UnspecifiedMatching MONDO:0012711 peripapillary atrophy, beta type skos:exactMatch mesh:C566898 semapv:UnspecifiedMatching MONDO:0012712 dystonia with cerebellar atrophy skos:exactMatch MEDGEN:392987 semapv:UnspecifiedMatching MONDO:0012712 dystonia with cerebellar atrophy skos:exactMatch OMIM:611694 dystonia with cerebellar atrophy semapv:UnspecifiedMatching MONDO:0012712 dystonia with cerebellar atrophy skos:exactMatch UMLS:C2673697 semapv:UnspecifiedMatching MONDO:0012712 dystonia with cerebellar atrophy skos:exactMatch mesh:C567131 semapv:UnspecifiedMatching MONDO:0012713 spondylometaphyseal dysplasia, East African type skos:exactMatch DOID:0112302 spondylometaphyseal dysplasia East African type semapv:UnspecifiedMatching MONDO:0012713 spondylometaphyseal dysplasia, East African type skos:exactMatch MEDGEN:388701 semapv:UnspecifiedMatching MONDO:0012713 spondylometaphyseal dysplasia, East African type skos:exactMatch OMIM:611702 spondylometaphyseal dysplasia, east african type semapv:UnspecifiedMatching MONDO:0012713 spondylometaphyseal dysplasia, East African type skos:exactMatch UMLS:C2673686 semapv:UnspecifiedMatching MONDO:0012713 spondylometaphyseal dysplasia, East African type skos:exactMatch mesh:C535796 semapv:UnspecifiedMatching MONDO:0012714 early-onset myopathy with fatal cardiomyopathy skos:exactMatch DOID:0081341 congenital myopathy 5 semapv:UnspecifiedMatching MONDO:0012714 early-onset myopathy with fatal cardiomyopathy skos:exactMatch MEDGEN:435983 semapv:UnspecifiedMatching MONDO:0012714 early-onset myopathy with fatal cardiomyopathy skos:exactMatch OMIM:611705 congenital myopathy 5 with cardiomyopathy semapv:UnspecifiedMatching MONDO:0012714 early-onset myopathy with fatal cardiomyopathy skos:exactMatch Orphanet:289377 Early-onset myopathy with fatal cardiomyopathy semapv:UnspecifiedMatching MONDO:0012714 early-onset myopathy with fatal cardiomyopathy skos:exactMatch SCTID:702343002 semapv:UnspecifiedMatching MONDO:0012714 early-onset myopathy with fatal cardiomyopathy skos:exactMatch UMLS:C2673677 semapv:UnspecifiedMatching MONDO:0012714 early-onset myopathy with fatal cardiomyopathy skos:exactMatch mesh:C567129 semapv:UnspecifiedMatching MONDO:0012715 migraine with or without aura, susceptibility to, 12 skos:exactMatch MEDGEN:388698 semapv:UnspecifiedMatching MONDO:0012715 migraine with or without aura, susceptibility to, 12 skos:exactMatch OMIM:611706 migraine with or without aura, susceptibility to, 12 semapv:UnspecifiedMatching MONDO:0012715 migraine with or without aura, susceptibility to, 12 skos:exactMatch UMLS:C2673676 semapv:UnspecifiedMatching MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type skos:exactMatch DOID:0112287 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech semapv:UnspecifiedMatching MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type skos:exactMatch MEDGEN:435975 semapv:UnspecifiedMatching MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type skos:exactMatch OMIM:611717 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech semapv:UnspecifiedMatching MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type skos:exactMatch Orphanet:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome semapv:UnspecifiedMatching MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type skos:exactMatch SCTID:718765003 semapv:UnspecifiedMatching MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type skos:exactMatch UMLS:C2673649 semapv:UnspecifiedMatching MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type skos:exactMatch icd11.foundation:897226700 Spondyloepiphyseal dysplasia, Cantu type semapv:UnspecifiedMatching MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type skos:exactMatch mesh:C567128 semapv:UnspecifiedMatching MONDO:0012717 renal hypomagnesemia 4 skos:exactMatch DOID:0060882 renal hypomagnesemia 4 semapv:UnspecifiedMatching MONDO:0012717 renal hypomagnesemia 4 skos:exactMatch MEDGEN:388692 semapv:UnspecifiedMatching MONDO:0012717 renal hypomagnesemia 4 skos:exactMatch OMIM:611718 hypomagnesemia 4, renal semapv:UnspecifiedMatching MONDO:0012717 renal hypomagnesemia 4 skos:exactMatch UMLS:C2673648 semapv:UnspecifiedMatching MONDO:0012717 renal hypomagnesemia 4 skos:exactMatch mesh:C567127 semapv:UnspecifiedMatching MONDO:0012718 hypotonia with lactic acidemia and hyperammonemia skos:exactMatch DOID:0111473 combined oxidative phosphorylation deficiency 5 semapv:UnspecifiedMatching MONDO:0012718 hypotonia with lactic acidemia and hyperammonemia skos:exactMatch MEDGEN:435972 semapv:UnspecifiedMatching MONDO:0012718 hypotonia with lactic acidemia and hyperammonemia skos:exactMatch OMIM:611719 combined oxidative phosphorylation deficiency 5 semapv:UnspecifiedMatching MONDO:0012718 hypotonia with lactic acidemia and hyperammonemia skos:exactMatch Orphanet:137908 Hypotonia with lactic acidemia and hyperammonemia semapv:UnspecifiedMatching MONDO:0012718 hypotonia with lactic acidemia and hyperammonemia skos:exactMatch SCTID:724279004 semapv:UnspecifiedMatching MONDO:0012718 hypotonia with lactic acidemia and hyperammonemia skos:exactMatch UMLS:C2673642 semapv:UnspecifiedMatching MONDO:0012718 hypotonia with lactic acidemia and hyperammonemia skos:exactMatch mesh:C567126 semapv:UnspecifiedMatching MONDO:0012719 combined PSAP deficiency skos:exactMatch DOID:0111330 combined saposin deficiency semapv:UnspecifiedMatching MONDO:0012719 combined PSAP deficiency skos:exactMatch MEDGEN:382151 semapv:UnspecifiedMatching MONDO:0012719 combined PSAP deficiency skos:exactMatch OMIM:611721 combined saposin deficiency semapv:UnspecifiedMatching MONDO:0012719 combined PSAP deficiency skos:exactMatch Orphanet:139406 Encephalopathy due to prosaposin deficiency semapv:UnspecifiedMatching MONDO:0012719 combined PSAP deficiency skos:exactMatch SCTID:720864008 semapv:UnspecifiedMatching MONDO:0012719 combined PSAP deficiency skos:exactMatch UMLS:C2673635 semapv:UnspecifiedMatching MONDO:0012719 combined PSAP deficiency skos:exactMatch mesh:C567125 semapv:UnspecifiedMatching MONDO:0012720 Krabbe disease due to saposin A deficiency skos:exactMatch MEDGEN:392873 semapv:UnspecifiedMatching MONDO:0012720 Krabbe disease due to saposin A deficiency skos:exactMatch OMIM:611722 krabbe disease, atypical, due to saposin a deficiency semapv:UnspecifiedMatching MONDO:0012720 Krabbe disease due to saposin A deficiency skos:exactMatch UMLS:C2673266 semapv:UnspecifiedMatching MONDO:0012720 Krabbe disease due to saposin A deficiency skos:exactMatch mesh:C567097 semapv:UnspecifiedMatching MONDO:0012721 progressive myoclonic epilepsy type 3 skos:exactMatch DOID:0111446 progressive myoclonus epilepsy 3 semapv:UnspecifiedMatching MONDO:0012721 progressive myoclonic epilepsy type 3 skos:exactMatch MEDGEN:388595 semapv:UnspecifiedMatching MONDO:0012721 progressive myoclonic epilepsy type 3 skos:exactMatch OMIM:611726 epilepsy, progressive myoclonic, 3, with or without intracellular inclusions semapv:UnspecifiedMatching MONDO:0012721 progressive myoclonic epilepsy type 3 skos:exactMatch Orphanet:263516 Progressive myoclonic epilepsy type 3 semapv:UnspecifiedMatching MONDO:0012721 progressive myoclonic epilepsy type 3 skos:exactMatch Orphanet:699708 CLN14 disease semapv:UnspecifiedMatching MONDO:0012721 progressive myoclonic epilepsy type 3 skos:exactMatch SCTID:783064000 semapv:UnspecifiedMatching MONDO:0012721 progressive myoclonic epilepsy type 3 skos:exactMatch UMLS:C2673257 semapv:UnspecifiedMatching MONDO:0012721 progressive myoclonic epilepsy type 3 skos:exactMatch icd11.foundation:383417276 Progressive myoclonic epilepsy type 3 semapv:UnspecifiedMatching MONDO:0012721 progressive myoclonic epilepsy type 3 skos:exactMatch mesh:C567095 semapv:UnspecifiedMatching MONDO:0012722 Dauwerse-Peters syndrome skos:exactMatch MEDGEN:382037 semapv:UnspecifiedMatching MONDO:0012722 Dauwerse-Peters syndrome skos:exactMatch OMIM:611733 dauwerse-peters syndrome semapv:UnspecifiedMatching MONDO:0012722 Dauwerse-Peters syndrome skos:exactMatch UMLS:C2673203 semapv:UnspecifiedMatching MONDO:0012722 Dauwerse-Peters syndrome skos:exactMatch mesh:C567093 semapv:UnspecifiedMatching MONDO:0012723 Leber congenital amaurosis 10 skos:exactMatch DOID:0110291 Leber congenital amaurosis 10 semapv:UnspecifiedMatching MONDO:0012723 Leber congenital amaurosis 10 skos:exactMatch MEDGEN:346672 semapv:UnspecifiedMatching MONDO:0012723 Leber congenital amaurosis 10 skos:exactMatch OMIM:611755 leber congenital amaurosis 10 semapv:UnspecifiedMatching MONDO:0012723 Leber congenital amaurosis 10 skos:exactMatch UMLS:C1857821 semapv:UnspecifiedMatching MONDO:0012723 Leber congenital amaurosis 10 skos:exactMatch mesh:C565720 semapv:UnspecifiedMatching MONDO:0012724 familial cold autoinflammatory syndrome 2 skos:exactMatch DOID:0090063 familial cold autoinflammatory syndrome 2 semapv:UnspecifiedMatching MONDO:0012724 familial cold autoinflammatory syndrome 2 skos:exactMatch MEDGEN:435869 semapv:UnspecifiedMatching MONDO:0012724 familial cold autoinflammatory syndrome 2 skos:exactMatch NCIT:C119043 NALP12-Associated Hereditary Periodic Fever Syndrome semapv:UnspecifiedMatching MONDO:0012724 familial cold autoinflammatory syndrome 2 skos:exactMatch OMIM:611762 familial cold autoinflammatory syndrome 2 semapv:UnspecifiedMatching MONDO:0012724 familial cold autoinflammatory syndrome 2 skos:exactMatch Orphanet:247868 NLRP12-associated hereditary periodic fever syndrome semapv:UnspecifiedMatching MONDO:0012724 familial cold autoinflammatory syndrome 2 skos:exactMatch UMLS:C2673198 semapv:UnspecifiedMatching MONDO:0012724 familial cold autoinflammatory syndrome 2 skos:exactMatch mesh:C567090 semapv:UnspecifiedMatching MONDO:0012725 lipoprotein glomerulopathy skos:exactMatch MEDGEN:382034 semapv:UnspecifiedMatching MONDO:0012725 lipoprotein glomerulopathy skos:exactMatch OMIM:611771 lipoprotein glomerulopathy semapv:UnspecifiedMatching MONDO:0012725 lipoprotein glomerulopathy skos:exactMatch Orphanet:329481 Lipoprotein glomerulopathy semapv:UnspecifiedMatching MONDO:0012725 lipoprotein glomerulopathy skos:exactMatch SCTID:446923008 semapv:UnspecifiedMatching MONDO:0012725 lipoprotein glomerulopathy skos:exactMatch UMLS:C2673196 semapv:UnspecifiedMatching MONDO:0012725 lipoprotein glomerulopathy skos:exactMatch icd11.foundation:69778702 Lipoprotein glomerulopathy semapv:UnspecifiedMatching MONDO:0012725 lipoprotein glomerulopathy skos:exactMatch mesh:C567089 semapv:UnspecifiedMatching MONDO:0012726 autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome skos:exactMatch MEDGEN:382033 semapv:UnspecifiedMatching MONDO:0012726 autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome skos:exactMatch OMIM:611773 angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps semapv:UnspecifiedMatching MONDO:0012726 autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome skos:exactMatch Orphanet:73229 HANAC syndrome semapv:UnspecifiedMatching MONDO:0012726 autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome skos:exactMatch SCTID:702428000 semapv:UnspecifiedMatching MONDO:0012726 autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome skos:exactMatch UMLS:C2673195 semapv:UnspecifiedMatching MONDO:0012726 autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome skos:exactMatch mesh:C567088 semapv:UnspecifiedMatching MONDO:0012727 Kawasaki disease skos:exactMatch DOID:13378 Kawasaki disease semapv:UnspecifiedMatching MONDO:0012727 Kawasaki disease skos:exactMatch EFO:0004246 semapv:UnspecifiedMatching MONDO:0012727 Kawasaki disease skos:exactMatch ICD10CM:M30.3 Mucocutaneous lymph node syndrome [Kawasaki] semapv:UnspecifiedMatching MONDO:0012727 Kawasaki disease skos:exactMatch MEDGEN:10118 semapv:UnspecifiedMatching MONDO:0012727 Kawasaki disease skos:exactMatch NCIT:C34825 Kawasaki Disease semapv:UnspecifiedMatching MONDO:0012727 Kawasaki disease skos:exactMatch OMIM:611775 kawasaki disease semapv:UnspecifiedMatching MONDO:0012727 Kawasaki disease skos:exactMatch Orphanet:2331 Kawasaki disease semapv:UnspecifiedMatching MONDO:0012727 Kawasaki disease skos:exactMatch SCTID:75053002 semapv:UnspecifiedMatching MONDO:0012727 Kawasaki disease skos:exactMatch UMLS:C0026691 semapv:UnspecifiedMatching MONDO:0012727 Kawasaki disease skos:exactMatch icd11.foundation:540285662 Mucocutaneous lymph node syndrome semapv:UnspecifiedMatching MONDO:0012727 Kawasaki disease skos:exactMatch mesh:D009080 semapv:UnspecifiedMatching MONDO:0012728 Brugada syndrome 2 skos:exactMatch DOID:0110219 Brugada syndrome 2 semapv:UnspecifiedMatching MONDO:0012728 Brugada syndrome 2 skos:exactMatch MEDGEN:382031 semapv:UnspecifiedMatching MONDO:0012728 Brugada syndrome 2 skos:exactMatch OMIM:611777 brugada syndrome 2 semapv:UnspecifiedMatching MONDO:0012728 Brugada syndrome 2 skos:exactMatch UMLS:C2673193 semapv:UnspecifiedMatching MONDO:0012728 Brugada syndrome 2 skos:exactMatch mesh:C567087 semapv:UnspecifiedMatching MONDO:0012729 erythrocytosis, familial, 4 skos:exactMatch DOID:0080339 familial erythrocytosis 4 semapv:UnspecifiedMatching MONDO:0012729 erythrocytosis, familial, 4 skos:exactMatch MEDGEN:435867 semapv:UnspecifiedMatching MONDO:0012729 erythrocytosis, familial, 4 skos:exactMatch OMIM:611783 erythrocytosis, familial, 4 semapv:UnspecifiedMatching MONDO:0012729 erythrocytosis, familial, 4 skos:exactMatch UMLS:C2673187 semapv:UnspecifiedMatching MONDO:0012729 erythrocytosis, familial, 4 skos:exactMatch mesh:C567086 semapv:UnspecifiedMatching MONDO:0012730 aortic aneurysm, familial thoracic 6 skos:exactMatch MEDGEN:435866 semapv:UnspecifiedMatching MONDO:0012730 aortic aneurysm, familial thoracic 6 skos:exactMatch OMIM:611788 aortic aneurysm, familial thoracic 6 semapv:UnspecifiedMatching MONDO:0012730 aortic aneurysm, familial thoracic 6 skos:exactMatch UMLS:C2673186 semapv:UnspecifiedMatching MONDO:0012730 aortic aneurysm, familial thoracic 6 skos:exactMatch mesh:C567085 semapv:UnspecifiedMatching MONDO:0012731 elliptocytosis 1 skos:exactMatch MEDGEN:394841 semapv:UnspecifiedMatching MONDO:0012731 elliptocytosis 1 skos:exactMatch OMIM:611804 elliptocytosis 1 semapv:UnspecifiedMatching MONDO:0012731 elliptocytosis 1 skos:exactMatch UMLS:C2678497 semapv:UnspecifiedMatching MONDO:0012731 elliptocytosis 1 skos:exactMatch mesh:C567520 semapv:UnspecifiedMatching MONDO:0012732 tremor, hereditary essential, and idiopathic normal pressure hydrocephalus skos:exactMatch MEDGEN:394839 semapv:UnspecifiedMatching MONDO:0012732 tremor, hereditary essential, and idiopathic normal pressure hydrocephalus skos:exactMatch OMIM:611808 tremor, hereditary essential, and idiopathic normal pressure hydrocephalus semapv:UnspecifiedMatching MONDO:0012732 tremor, hereditary essential, and idiopathic normal pressure hydrocephalus skos:exactMatch UMLS:C2678494 semapv:UnspecifiedMatching MONDO:0012732 tremor, hereditary essential, and idiopathic normal pressure hydrocephalus skos:exactMatch mesh:C567519 semapv:UnspecifiedMatching MONDO:0012733 autosomal recessive bestrophinopathy skos:exactMatch DOID:0050662 bestrophinopathy semapv:UnspecifiedMatching MONDO:0012733 autosomal recessive bestrophinopathy skos:exactMatch MEDGEN:854806 semapv:UnspecifiedMatching MONDO:0012733 autosomal recessive bestrophinopathy skos:exactMatch OMIM:611809 bestrophinopathy, autosomal recessive semapv:UnspecifiedMatching MONDO:0012733 autosomal recessive bestrophinopathy skos:exactMatch Orphanet:139455 Autosomal recessive bestrophinopathy semapv:UnspecifiedMatching MONDO:0012733 autosomal recessive bestrophinopathy skos:exactMatch SCTID:723828008 semapv:UnspecifiedMatching MONDO:0012733 autosomal recessive bestrophinopathy skos:exactMatch UMLS:C3888198 semapv:UnspecifiedMatching MONDO:0012733 autosomal recessive bestrophinopathy skos:exactMatch mesh:C567518 semapv:UnspecifiedMatching MONDO:0012734 SERKAL syndrome skos:exactMatch MEDGEN:394528 semapv:UnspecifiedMatching MONDO:0012734 SERKAL syndrome skos:exactMatch NCIT:C123726 SERKAL Syndrome semapv:UnspecifiedMatching MONDO:0012734 SERKAL syndrome skos:exactMatch OMIM:611812 46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs semapv:UnspecifiedMatching MONDO:0012734 SERKAL syndrome skos:exactMatch Orphanet:139466 SERKAL syndrome semapv:UnspecifiedMatching MONDO:0012734 SERKAL syndrome skos:exactMatch SCTID:723720008 semapv:UnspecifiedMatching MONDO:0012734 SERKAL syndrome skos:exactMatch UMLS:C2678492 semapv:UnspecifiedMatching MONDO:0012734 SERKAL syndrome skos:exactMatch mesh:C567517 semapv:UnspecifiedMatching MONDO:0012735 Temple-Baraitser syndrome skos:exactMatch MEDGEN:395636 semapv:UnspecifiedMatching MONDO:0012735 Temple-Baraitser syndrome skos:exactMatch OMIM:611816 temple-baraitser syndrome semapv:UnspecifiedMatching MONDO:0012735 Temple-Baraitser syndrome skos:exactMatch Orphanet:420561 Temple-Baraitser syndrome semapv:UnspecifiedMatching MONDO:0012735 Temple-Baraitser syndrome skos:exactMatch UMLS:C2678486 semapv:UnspecifiedMatching MONDO:0012735 Temple-Baraitser syndrome skos:exactMatch mesh:C567516 semapv:UnspecifiedMatching MONDO:0012736 long QT syndrome 9 skos:exactMatch DOID:0110650 long QT syndrome 9 semapv:UnspecifiedMatching MONDO:0012736 long QT syndrome 9 skos:exactMatch MEDGEN:395635 semapv:UnspecifiedMatching MONDO:0012736 long QT syndrome 9 skos:exactMatch OMIM:611818 long qt syndrome 9 semapv:UnspecifiedMatching MONDO:0012736 long QT syndrome 9 skos:exactMatch UMLS:C2678485 semapv:UnspecifiedMatching MONDO:0012736 long QT syndrome 9 skos:exactMatch mesh:C567515 semapv:UnspecifiedMatching MONDO:0012737 long QT syndrome 10 skos:exactMatch DOID:0110651 long QT syndrome 10 semapv:UnspecifiedMatching MONDO:0012737 long QT syndrome 10 skos:exactMatch MEDGEN:394836 semapv:UnspecifiedMatching MONDO:0012737 long QT syndrome 10 skos:exactMatch OMIM:611819 long qt syndrome 10 semapv:UnspecifiedMatching MONDO:0012737 long QT syndrome 10 skos:exactMatch UMLS:C2678484 semapv:UnspecifiedMatching MONDO:0012737 long QT syndrome 10 skos:exactMatch mesh:C567514 semapv:UnspecifiedMatching MONDO:0012738 long QT syndrome 11 skos:exactMatch DOID:0110652 long QT syndrome 11 semapv:UnspecifiedMatching MONDO:0012738 long QT syndrome 11 skos:exactMatch MEDGEN:437218 semapv:UnspecifiedMatching MONDO:0012738 long QT syndrome 11 skos:exactMatch OMIM:611820 long qt syndrome 11 semapv:UnspecifiedMatching MONDO:0012738 long QT syndrome 11 skos:exactMatch UMLS:C2678483 semapv:UnspecifiedMatching MONDO:0012738 long QT syndrome 11 skos:exactMatch mesh:C567513 semapv:UnspecifiedMatching MONDO:0012739 microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome skos:exactMatch MEDGEN:394835 semapv:UnspecifiedMatching MONDO:0012739 microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome skos:exactMatch OMIM:611863 microtia with nasolacrimal duct imperforation and eye coloboma semapv:UnspecifiedMatching MONDO:0012739 microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome skos:exactMatch Orphanet:139450 Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome semapv:UnspecifiedMatching MONDO:0012739 microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome skos:exactMatch UMLS:C2678482 semapv:UnspecifiedMatching MONDO:0012739 microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome skos:exactMatch mesh:C567512 semapv:UnspecifiedMatching MONDO:0012740 chromosome 22q11.2 deletion syndrome, distal skos:exactMatch DOID:0060413 chromosome 22q11.2 deletion syndrome, distal semapv:UnspecifiedMatching MONDO:0012740 chromosome 22q11.2 deletion syndrome, distal skos:exactMatch MEDGEN:395634 semapv:UnspecifiedMatching MONDO:0012740 chromosome 22q11.2 deletion syndrome, distal skos:exactMatch OMIM:611867 chromosome 22q11.2 deletion syndrome, distal semapv:UnspecifiedMatching MONDO:0012740 chromosome 22q11.2 deletion syndrome, distal skos:exactMatch Orphanet:261330 Distal 22q11.2 microdeletion syndrome semapv:UnspecifiedMatching MONDO:0012740 chromosome 22q11.2 deletion syndrome, distal skos:exactMatch SCTID:734029004 semapv:UnspecifiedMatching MONDO:0012740 chromosome 22q11.2 deletion syndrome, distal skos:exactMatch UMLS:C2678480 semapv:UnspecifiedMatching MONDO:0012740 chromosome 22q11.2 deletion syndrome, distal skos:exactMatch mesh:C567511 semapv:UnspecifiedMatching MONDO:0012741 prostate cancer, hereditary, 12 skos:exactMatch MEDGEN:437216 semapv:UnspecifiedMatching MONDO:0012741 prostate cancer, hereditary, 12 skos:exactMatch OMIM:611868 prostate cancer, hereditary, 12 semapv:UnspecifiedMatching MONDO:0012741 prostate cancer, hereditary, 12 skos:exactMatch UMLS:C2678479 semapv:UnspecifiedMatching MONDO:0012741 prostate cancer, hereditary, 12 skos:exactMatch mesh:C567510 semapv:UnspecifiedMatching MONDO:0012742 Brugada syndrome 3 skos:exactMatch DOID:0110220 Brugada syndrome 3 semapv:UnspecifiedMatching MONDO:0012742 Brugada syndrome 3 skos:exactMatch MEDGEN:395633 semapv:UnspecifiedMatching MONDO:0012742 Brugada syndrome 3 skos:exactMatch OMIM:611875 brugada syndrome 3 semapv:UnspecifiedMatching MONDO:0012742 Brugada syndrome 3 skos:exactMatch UMLS:C2678478 semapv:UnspecifiedMatching MONDO:0012742 Brugada syndrome 3 skos:exactMatch mesh:C567509 semapv:UnspecifiedMatching MONDO:0012743 Brugada syndrome 4 skos:exactMatch DOID:0110221 Brugada syndrome 4 semapv:UnspecifiedMatching MONDO:0012743 Brugada syndrome 4 skos:exactMatch MEDGEN:395632 semapv:UnspecifiedMatching MONDO:0012743 Brugada syndrome 4 skos:exactMatch OMIM:611876 brugada syndrome 4 semapv:UnspecifiedMatching MONDO:0012743 Brugada syndrome 4 skos:exactMatch UMLS:C2678477 semapv:UnspecifiedMatching MONDO:0012743 Brugada syndrome 4 skos:exactMatch mesh:C567508 semapv:UnspecifiedMatching MONDO:0012744 dilated cardiomyopathy 1Y skos:exactMatch DOID:0110457 dilated cardiomyopathy 1Y semapv:UnspecifiedMatching MONDO:0012744 dilated cardiomyopathy 1Y skos:exactMatch MEDGEN:437215 semapv:UnspecifiedMatching MONDO:0012744 dilated cardiomyopathy 1Y skos:exactMatch OMIM:611878 cardiomyopathy, dilated, 1y semapv:UnspecifiedMatching MONDO:0012744 dilated cardiomyopathy 1Y skos:exactMatch UMLS:C2678476 semapv:UnspecifiedMatching MONDO:0012744 dilated cardiomyopathy 1Y skos:exactMatch mesh:C567507 semapv:UnspecifiedMatching MONDO:0012745 dilated cardiomyopathy 1Z skos:exactMatch DOID:0110434 dilated cardiomyopathy 1Z semapv:UnspecifiedMatching MONDO:0012745 dilated cardiomyopathy 1Z skos:exactMatch MEDGEN:395631 semapv:UnspecifiedMatching MONDO:0012745 dilated cardiomyopathy 1Z skos:exactMatch OMIM:611879 cardiomyopathy, dilated, 1z semapv:UnspecifiedMatching MONDO:0012745 dilated cardiomyopathy 1Z skos:exactMatch UMLS:C2678475 semapv:UnspecifiedMatching MONDO:0012745 dilated cardiomyopathy 1Z skos:exactMatch mesh:C567506 semapv:UnspecifiedMatching MONDO:0012746 dilated cardiomyopathy 2A skos:exactMatch DOID:0110460 dilated cardiomyopathy 2A semapv:UnspecifiedMatching MONDO:0012746 dilated cardiomyopathy 2A skos:exactMatch MEDGEN:437214 semapv:UnspecifiedMatching MONDO:0012746 dilated cardiomyopathy 2A skos:exactMatch OMIM:611880 cardiomyopathy, dilated, 2a semapv:UnspecifiedMatching MONDO:0012746 dilated cardiomyopathy 2A skos:exactMatch UMLS:C2678474 semapv:UnspecifiedMatching MONDO:0012747 glycogen storage disease due to aldolase A deficiency skos:exactMatch MEDGEN:82895 semapv:UnspecifiedMatching MONDO:0012747 glycogen storage disease due to aldolase A deficiency skos:exactMatch OMIM:611881 glycogen storage disease 12 semapv:UnspecifiedMatching MONDO:0012747 glycogen storage disease due to aldolase A deficiency skos:exactMatch Orphanet:57 Glycogen storage disease due to aldolase A deficiency semapv:UnspecifiedMatching MONDO:0012747 glycogen storage disease due to aldolase A deficiency skos:exactMatch SCTID:111578003 semapv:UnspecifiedMatching MONDO:0012747 glycogen storage disease due to aldolase A deficiency skos:exactMatch UMLS:C0272066 semapv:UnspecifiedMatching MONDO:0012747 glycogen storage disease due to aldolase A deficiency skos:exactMatch icd11.foundation:1020924235 Glycogen storage disease due to aldolase A deficiency semapv:UnspecifiedMatching MONDO:0012747 glycogen storage disease due to aldolase A deficiency skos:exactMatch mesh:C562718 semapv:UnspecifiedMatching MONDO:0012748 primary ciliary dyskinesia 7 skos:exactMatch DOID:0110605 primary ciliary dyskinesia 7 semapv:UnspecifiedMatching MONDO:0012748 primary ciliary dyskinesia 7 skos:exactMatch MEDGEN:394834 semapv:UnspecifiedMatching MONDO:0012748 primary ciliary dyskinesia 7 skos:exactMatch OMIM:611884 ciliary dyskinesia, primary, 7 semapv:UnspecifiedMatching MONDO:0012748 primary ciliary dyskinesia 7 skos:exactMatch UMLS:C2678473 semapv:UnspecifiedMatching MONDO:0012748 primary ciliary dyskinesia 7 skos:exactMatch mesh:C567504 semapv:UnspecifiedMatching MONDO:0012749 mesomelic dysplasia, camera type skos:exactMatch MEDGEN:394526 semapv:UnspecifiedMatching MONDO:0012749 mesomelic dysplasia, camera type skos:exactMatch OMIM:611886 mesomelic dysplasia, camera type semapv:UnspecifiedMatching MONDO:0012749 mesomelic dysplasia, camera type skos:exactMatch UMLS:C2678472 semapv:UnspecifiedMatching MONDO:0012749 mesomelic dysplasia, camera type skos:exactMatch mesh:C567503 semapv:UnspecifiedMatching MONDO:0012750 lethal arthrogryposis-anterior horn cell disease syndrome skos:exactMatch MEDGEN:1677784 semapv:UnspecifiedMatching MONDO:0012750 lethal arthrogryposis-anterior horn cell disease syndrome skos:exactMatch OMIM:611890 congenital arthrogryposis with anterior horn cell disease semapv:UnspecifiedMatching MONDO:0012750 lethal arthrogryposis-anterior horn cell disease syndrome skos:exactMatch Orphanet:53696 Arthrogryposis-anterior horn cell disease syndrome semapv:UnspecifiedMatching MONDO:0012750 lethal arthrogryposis-anterior horn cell disease syndrome skos:exactMatch SCTID:715565004 semapv:UnspecifiedMatching MONDO:0012750 lethal arthrogryposis-anterior horn cell disease syndrome skos:exactMatch UMLS:C5193016 semapv:UnspecifiedMatching MONDO:0012750 lethal arthrogryposis-anterior horn cell disease syndrome skos:exactMatch mesh:C567502 semapv:UnspecifiedMatching MONDO:0012751 aortic aneurysm, familial abdominal, 3 skos:exactMatch MEDGEN:394525 semapv:UnspecifiedMatching MONDO:0012751 aortic aneurysm, familial abdominal, 3 skos:exactMatch OMIM:611891 aortic aneurysm, familial abdominal, 3 semapv:UnspecifiedMatching MONDO:0012751 aortic aneurysm, familial abdominal, 3 skos:exactMatch UMLS:C2678470 semapv:UnspecifiedMatching MONDO:0012751 aortic aneurysm, familial abdominal, 3 skos:exactMatch mesh:C567501 semapv:UnspecifiedMatching MONDO:0012752 aneurysm, intracranial berry, 6 skos:exactMatch DOID:0080969 intracranial berry aneurysm 6 semapv:UnspecifiedMatching MONDO:0012752 aneurysm, intracranial berry, 6 skos:exactMatch MEDGEN:395630 semapv:UnspecifiedMatching MONDO:0012752 aneurysm, intracranial berry, 6 skos:exactMatch OMIM:611892 aneurysm, intracranial berry, 6 semapv:UnspecifiedMatching MONDO:0012752 aneurysm, intracranial berry, 6 skos:exactMatch UMLS:C2678469 semapv:UnspecifiedMatching MONDO:0012752 aneurysm, intracranial berry, 6 skos:exactMatch mesh:C567500 semapv:UnspecifiedMatching MONDO:0012753 amyotrophic lateral sclerosis type 9 skos:exactMatch DOID:0060200 amyotrophic lateral sclerosis type 9 semapv:UnspecifiedMatching MONDO:0012753 amyotrophic lateral sclerosis type 9 skos:exactMatch MEDGEN:395629 semapv:UnspecifiedMatching MONDO:0012753 amyotrophic lateral sclerosis type 9 skos:exactMatch OMIM:611895 amyotrophic lateral sclerosis 9 semapv:UnspecifiedMatching MONDO:0012753 amyotrophic lateral sclerosis type 9 skos:exactMatch UMLS:C2678468 semapv:UnspecifiedMatching MONDO:0012753 amyotrophic lateral sclerosis type 9 skos:exactMatch mesh:C567499 semapv:UnspecifiedMatching MONDO:0012754 nanophthalmos 3 skos:exactMatch MEDGEN:395628 semapv:UnspecifiedMatching MONDO:0012754 nanophthalmos 3 skos:exactMatch OMIM:611897 nanophthalmos 3 semapv:UnspecifiedMatching MONDO:0012754 nanophthalmos 3 skos:exactMatch UMLS:C2678467 semapv:UnspecifiedMatching MONDO:0012754 nanophthalmos 3 skos:exactMatch mesh:C567498 semapv:UnspecifiedMatching MONDO:0012755 episodic ataxia type 7 skos:exactMatch DOID:0050995 episodic ataxia type 7 semapv:UnspecifiedMatching MONDO:0012755 episodic ataxia type 7 skos:exactMatch MEDGEN:383209 semapv:UnspecifiedMatching MONDO:0012755 episodic ataxia type 7 skos:exactMatch OMIM:611907 episodic ataxia, type 7 semapv:UnspecifiedMatching MONDO:0012755 episodic ataxia type 7 skos:exactMatch Orphanet:209970 Episodic ataxia type 7 semapv:UnspecifiedMatching MONDO:0012755 episodic ataxia type 7 skos:exactMatch SCTID:718752007 semapv:UnspecifiedMatching MONDO:0012755 episodic ataxia type 7 skos:exactMatch UMLS:C2677843 semapv:UnspecifiedMatching MONDO:0012755 episodic ataxia type 7 skos:exactMatch icd11.foundation:1855038011 Episodic ataxia type 7 semapv:UnspecifiedMatching MONDO:0012755 episodic ataxia type 7 skos:exactMatch mesh:C567459 semapv:UnspecifiedMatching MONDO:0012756 proximal 16p11.2 microdeletion syndrome skos:exactMatch DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb semapv:UnspecifiedMatching MONDO:0012756 proximal 16p11.2 microdeletion syndrome skos:exactMatch MEDGEN:461504 semapv:UnspecifiedMatching MONDO:0012756 proximal 16p11.2 microdeletion syndrome skos:exactMatch NCIT:C120408 Chromosome 16p11.2 Deletion Syndrome semapv:UnspecifiedMatching MONDO:0012756 proximal 16p11.2 microdeletion syndrome skos:exactMatch OMIM:611913 chromosome 16p11.2 deletion syndrome, 593-kb semapv:UnspecifiedMatching MONDO:0012756 proximal 16p11.2 microdeletion syndrome skos:exactMatch Orphanet:261197 Proximal 16p11.2 microdeletion syndrome semapv:UnspecifiedMatching MONDO:0012756 proximal 16p11.2 microdeletion syndrome skos:exactMatch SCTID:699307007 semapv:UnspecifiedMatching MONDO:0012756 proximal 16p11.2 microdeletion syndrome skos:exactMatch SCTID:718227006 semapv:UnspecifiedMatching MONDO:0012756 proximal 16p11.2 microdeletion syndrome skos:exactMatch UMLS:C3150154 semapv:UnspecifiedMatching MONDO:0012756 proximal 16p11.2 microdeletion syndrome skos:exactMatch mesh:C579850 semapv:UnspecifiedMatching MONDO:0012757 lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome skos:exactMatch MEDGEN:461506 semapv:UnspecifiedMatching MONDO:0012757 lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome skos:exactMatch OMIM:611926 immunodeficiency, ovarian dysgenesis, and pulmonary fibrosis semapv:UnspecifiedMatching MONDO:0012757 lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome skos:exactMatch Orphanet:137631 Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome semapv:UnspecifiedMatching MONDO:0012757 lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome skos:exactMatch SCTID:721977007 semapv:UnspecifiedMatching MONDO:0012757 lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome skos:exactMatch UMLS:C3150156 semapv:UnspecifiedMatching MONDO:0012758 prostate cancer, hereditary, 13 skos:exactMatch MEDGEN:383198 semapv:UnspecifiedMatching MONDO:0012758 prostate cancer, hereditary, 13 skos:exactMatch OMIM:611928 prostate cancer, hereditary, 13 semapv:UnspecifiedMatching MONDO:0012758 prostate cancer, hereditary, 13 skos:exactMatch UMLS:C2677821 semapv:UnspecifiedMatching MONDO:0012758 prostate cancer, hereditary, 13 skos:exactMatch mesh:C567456 semapv:UnspecifiedMatching MONDO:0012759 camptodactyly syndrome, Guadalajara type 3 skos:exactMatch MEDGEN:394371 semapv:UnspecifiedMatching MONDO:0012759 camptodactyly syndrome, Guadalajara type 3 skos:exactMatch OMIM:611929 camptodactyly syndrome, guadalajara, type 3 semapv:UnspecifiedMatching MONDO:0012759 camptodactyly syndrome, Guadalajara type 3 skos:exactMatch Orphanet:488434 Camptodactyly syndrome, Guadalajara type 3 semapv:UnspecifiedMatching MONDO:0012759 camptodactyly syndrome, Guadalajara type 3 skos:exactMatch UMLS:C2677809 semapv:UnspecifiedMatching MONDO:0012759 camptodactyly syndrome, Guadalajara type 3 skos:exactMatch mesh:C567455 semapv:UnspecifiedMatching MONDO:0012760 epilepsy, idiopathic generalized, susceptibility to, 5 skos:exactMatch MEDGEN:393842 semapv:UnspecifiedMatching MONDO:0012760 epilepsy, idiopathic generalized, susceptibility to, 5 skos:exactMatch OMIM:611934 epilepsy, idiopathic generalized, susceptibility to, 5 semapv:UnspecifiedMatching MONDO:0012760 epilepsy, idiopathic generalized, susceptibility to, 5 skos:exactMatch UMLS:C2677808 semapv:UnspecifiedMatching MONDO:0012761 chromosome 3q29 microduplication syndrome skos:exactMatch DOID:0060459 chromosome 3q29 microduplication syndrome semapv:UnspecifiedMatching MONDO:0012761 chromosome 3q29 microduplication syndrome skos:exactMatch MEDGEN:440897 semapv:UnspecifiedMatching MONDO:0012761 chromosome 3q29 microduplication syndrome skos:exactMatch OMIM:611936 chromosome 3q29 duplication syndrome semapv:UnspecifiedMatching MONDO:0012761 chromosome 3q29 microduplication syndrome skos:exactMatch Orphanet:251038 3q29 microduplication syndrome semapv:UnspecifiedMatching MONDO:0012761 chromosome 3q29 microduplication syndrome skos:exactMatch SCTID:717973004 semapv:UnspecifiedMatching MONDO:0012761 chromosome 3q29 microduplication syndrome skos:exactMatch UMLS:C2749873 semapv:UnspecifiedMatching MONDO:0012761 chromosome 3q29 microduplication syndrome skos:exactMatch mesh:C567626 semapv:UnspecifiedMatching MONDO:0012762 catecholaminergic polymorphic ventricular tachycardia 2 skos:exactMatch DOID:0060676 catecholaminergic polymorphic ventricular tachycardia 2 semapv:UnspecifiedMatching MONDO:0012762 catecholaminergic polymorphic ventricular tachycardia 2 skos:exactMatch MEDGEN:393837 semapv:UnspecifiedMatching MONDO:0012762 catecholaminergic polymorphic ventricular tachycardia 2 skos:exactMatch NCIT:C148368 Catecholaminergic Polymorphic Ventricular Tachycardia Type 2 semapv:UnspecifiedMatching MONDO:0012762 catecholaminergic polymorphic ventricular tachycardia 2 skos:exactMatch OMIM:611938 ventricular tachycardia, catecholaminergic polymorphic, 2 semapv:UnspecifiedMatching MONDO:0012762 catecholaminergic polymorphic ventricular tachycardia 2 skos:exactMatch UMLS:C2677794 semapv:UnspecifiedMatching MONDO:0012763 epilepsy, childhood absence, susceptibility to, 6 skos:exactMatch MEDGEN:440896 semapv:UnspecifiedMatching MONDO:0012763 epilepsy, childhood absence, susceptibility to, 6 skos:exactMatch OMIM:611942 epilepsy, childhood absence, susceptibility to, 6 semapv:UnspecifiedMatching MONDO:0012763 epilepsy, childhood absence, susceptibility to, 6 skos:exactMatch UMLS:C2749872 semapv:UnspecifiedMatching MONDO:0012764 RIDDLE syndrome skos:exactMatch DOID:0090113 RIDDLE syndrome semapv:UnspecifiedMatching MONDO:0012764 RIDDLE syndrome skos:exactMatch MEDGEN:394368 semapv:UnspecifiedMatching MONDO:0012764 RIDDLE syndrome skos:exactMatch OMIM:611943 riddle syndrome semapv:UnspecifiedMatching MONDO:0012764 RIDDLE syndrome skos:exactMatch Orphanet:420741 RIDDLE syndrome semapv:UnspecifiedMatching MONDO:0012764 RIDDLE syndrome skos:exactMatch UMLS:C2677792 semapv:UnspecifiedMatching MONDO:0012764 RIDDLE syndrome skos:exactMatch mesh:C567453 semapv:UnspecifiedMatching MONDO:0012765 lymphatic malformation 2 skos:exactMatch DOID:0070211 hereditary lymphedema IB semapv:UnspecifiedMatching MONDO:0012765 lymphatic malformation 2 skos:exactMatch MEDGEN:1648459 semapv:UnspecifiedMatching MONDO:0012765 lymphatic malformation 2 skos:exactMatch OMIM:611944 lymphatic malformation 2 semapv:UnspecifiedMatching MONDO:0012765 lymphatic malformation 2 skos:exactMatch UMLS:C4747568 semapv:UnspecifiedMatching MONDO:0012765 lymphatic malformation 2 skos:exactMatch mesh:C567452 semapv:UnspecifiedMatching MONDO:0012766 hereditary spastic paraplegia 37 skos:exactMatch DOID:0110788 hereditary spastic paraplegia 37 semapv:UnspecifiedMatching MONDO:0012766 hereditary spastic paraplegia 37 skos:exactMatch MEDGEN:422458 semapv:UnspecifiedMatching MONDO:0012766 hereditary spastic paraplegia 37 skos:exactMatch OMIM:611945 spastic paraplegia 37, autosomal dominant semapv:UnspecifiedMatching MONDO:0012766 hereditary spastic paraplegia 37 skos:exactMatch Orphanet:171612 Autosomal dominant spastic paraplegia type 37 semapv:UnspecifiedMatching MONDO:0012766 hereditary spastic paraplegia 37 skos:exactMatch SCTID:763369007 semapv:UnspecifiedMatching MONDO:0012766 hereditary spastic paraplegia 37 skos:exactMatch UMLS:C2936880 semapv:UnspecifiedMatching MONDO:0012766 hereditary spastic paraplegia 37 skos:exactMatch mesh:C567931 semapv:UnspecifiedMatching MONDO:0012767 age related macular degeneration 11 skos:exactMatch DOID:0110023 age related macular degeneration 11 semapv:UnspecifiedMatching MONDO:0012767 age related macular degeneration 11 skos:exactMatch MEDGEN:393833 semapv:UnspecifiedMatching MONDO:0012767 age related macular degeneration 11 skos:exactMatch OMIM:611953 macular degeneration, age-related, 11 semapv:UnspecifiedMatching MONDO:0012767 age related macular degeneration 11 skos:exactMatch UMLS:C2677774 semapv:UnspecifiedMatching MONDO:0012767 age related macular degeneration 11 skos:exactMatch mesh:C567450 semapv:UnspecifiedMatching MONDO:0012768 prostate cancer, hereditary, 11 skos:exactMatch MEDGEN:394363 semapv:UnspecifiedMatching MONDO:0012768 prostate cancer, hereditary, 11 skos:exactMatch OMIM:611955 prostate cancer, hereditary, 11 semapv:UnspecifiedMatching MONDO:0012768 prostate cancer, hereditary, 11 skos:exactMatch UMLS:C2677773 semapv:UnspecifiedMatching MONDO:0012768 prostate cancer, hereditary, 11 skos:exactMatch mesh:C567449 semapv:UnspecifiedMatching MONDO:0012769 prostate cancer, hereditary, 14 skos:exactMatch MEDGEN:393832 semapv:UnspecifiedMatching MONDO:0012769 prostate cancer, hereditary, 14 skos:exactMatch OMIM:611958 prostate cancer, hereditary, 14 semapv:UnspecifiedMatching MONDO:0012769 prostate cancer, hereditary, 14 skos:exactMatch UMLS:C2677772 semapv:UnspecifiedMatching MONDO:0012769 prostate cancer, hereditary, 14 skos:exactMatch mesh:C567448 semapv:UnspecifiedMatching MONDO:0012770 prostate cancer, hereditary, 15 skos:exactMatch MEDGEN:437036 semapv:UnspecifiedMatching MONDO:0012770 prostate cancer, hereditary, 15 skos:exactMatch OMIM:611959 prostate cancer, hereditary, 15 semapv:UnspecifiedMatching MONDO:0012770 prostate cancer, hereditary, 15 skos:exactMatch UMLS:C2677771 semapv:UnspecifiedMatching MONDO:0012770 prostate cancer, hereditary, 15 skos:exactMatch mesh:C567447 semapv:UnspecifiedMatching MONDO:0012771 asthma-related traits, susceptibility to, 7 skos:exactMatch MEDGEN:394362 semapv:UnspecifiedMatching MONDO:0012771 asthma-related traits, susceptibility to, 7 skos:exactMatch OMIM:611960 asthma-related traits, susceptibility to, 7 semapv:UnspecifiedMatching MONDO:0012771 asthma-related traits, susceptibility to, 7 skos:exactMatch UMLS:C2677770 semapv:UnspecifiedMatching MONDO:0012772 Stevenson-Carey syndrome skos:exactMatch MEDGEN:383183 semapv:UnspecifiedMatching MONDO:0012772 Stevenson-Carey syndrome skos:exactMatch OMIM:611961 stevenson-carey syndrome semapv:UnspecifiedMatching MONDO:0012772 Stevenson-Carey syndrome skos:exactMatch UMLS:C2677763 semapv:UnspecifiedMatching MONDO:0012772 Stevenson-Carey syndrome skos:exactMatch mesh:C567446 semapv:UnspecifiedMatching MONDO:0012773 Hunter-Macdonald syndrome skos:exactMatch MEDGEN:383181 semapv:UnspecifiedMatching MONDO:0012773 Hunter-Macdonald syndrome skos:exactMatch OMIM:611962 hunter-macdonald syndrome semapv:UnspecifiedMatching MONDO:0012773 Hunter-Macdonald syndrome skos:exactMatch UMLS:C2677745 semapv:UnspecifiedMatching MONDO:0012773 Hunter-Macdonald syndrome skos:exactMatch mesh:C567445 semapv:UnspecifiedMatching MONDO:0012774 chromosome 15q13.3 microdeletion syndrome skos:exactMatch DOID:0060394 chromosome 15q13.3 microdeletion syndrome semapv:UnspecifiedMatching MONDO:0012774 chromosome 15q13.3 microdeletion syndrome skos:exactMatch MEDGEN:393784 semapv:UnspecifiedMatching MONDO:0012774 chromosome 15q13.3 microdeletion syndrome skos:exactMatch OMIM:612001 chromosome 15q13.3 deletion syndrome semapv:UnspecifiedMatching MONDO:0012774 chromosome 15q13.3 microdeletion syndrome skos:exactMatch Orphanet:199318 15q13.3 microdeletion syndrome semapv:UnspecifiedMatching MONDO:0012774 chromosome 15q13.3 microdeletion syndrome skos:exactMatch SCTID:699254009 semapv:UnspecifiedMatching MONDO:0012774 chromosome 15q13.3 microdeletion syndrome skos:exactMatch UMLS:C2677613 semapv:UnspecifiedMatching MONDO:0012774 chromosome 15q13.3 microdeletion syndrome skos:exactMatch mesh:C567439 semapv:UnspecifiedMatching MONDO:0012775 thrombocytopenia 4 skos:exactMatch MEDGEN:394329 semapv:UnspecifiedMatching MONDO:0012775 thrombocytopenia 4 skos:exactMatch OMIM:612004 thrombocytopenia 4 semapv:UnspecifiedMatching MONDO:0012775 thrombocytopenia 4 skos:exactMatch UMLS:C2677608 semapv:UnspecifiedMatching MONDO:0012775 thrombocytopenia 4 skos:exactMatch mesh:C567438 semapv:UnspecifiedMatching MONDO:0012776 celiac disease, susceptibility to, 7 skos:exactMatch MEDGEN:394328 semapv:UnspecifiedMatching MONDO:0012776 celiac disease, susceptibility to, 7 skos:exactMatch OMIM:612005 celiac disease, susceptibility to, 7 semapv:UnspecifiedMatching MONDO:0012776 celiac disease, susceptibility to, 7 skos:exactMatch UMLS:C2677607 semapv:UnspecifiedMatching MONDO:0012777 celiac disease, susceptibility to, 8 skos:exactMatch MEDGEN:394327 semapv:UnspecifiedMatching MONDO:0012777 celiac disease, susceptibility to, 8 skos:exactMatch OMIM:612006 celiac disease, susceptibility to, 8 semapv:UnspecifiedMatching MONDO:0012777 celiac disease, susceptibility to, 8 skos:exactMatch UMLS:C2677606 semapv:UnspecifiedMatching MONDO:0012778 celiac disease, susceptibility to, 9 skos:exactMatch MEDGEN:393783 semapv:UnspecifiedMatching MONDO:0012778 celiac disease, susceptibility to, 9 skos:exactMatch OMIM:612007 celiac disease, susceptibility to, 9 semapv:UnspecifiedMatching MONDO:0012778 celiac disease, susceptibility to, 9 skos:exactMatch UMLS:C2677605 semapv:UnspecifiedMatching MONDO:0012779 celiac disease, susceptibility to, 10 skos:exactMatch MEDGEN:394326 semapv:UnspecifiedMatching MONDO:0012779 celiac disease, susceptibility to, 10 skos:exactMatch OMIM:612008 celiac disease, susceptibility to, 10 semapv:UnspecifiedMatching MONDO:0012779 celiac disease, susceptibility to, 10 skos:exactMatch UMLS:C2677604 semapv:UnspecifiedMatching MONDO:0012780 celiac disease, susceptibility to, 11 skos:exactMatch MEDGEN:393782 semapv:UnspecifiedMatching MONDO:0012780 celiac disease, susceptibility to, 11 skos:exactMatch OMIM:612009 celiac disease, susceptibility to, 11 semapv:UnspecifiedMatching MONDO:0012780 celiac disease, susceptibility to, 11 skos:exactMatch UMLS:C2677603 semapv:UnspecifiedMatching MONDO:0012781 celiac disease, susceptibility to, 12 skos:exactMatch MEDGEN:436989 semapv:UnspecifiedMatching MONDO:0012781 celiac disease, susceptibility to, 12 skos:exactMatch OMIM:612010 celiac disease, susceptibility to, 12 semapv:UnspecifiedMatching MONDO:0012781 celiac disease, susceptibility to, 12 skos:exactMatch UMLS:C2677602 semapv:UnspecifiedMatching MONDO:0012782 celiac disease, susceptibility to, 13 skos:exactMatch MEDGEN:383149 semapv:UnspecifiedMatching MONDO:0012782 celiac disease, susceptibility to, 13 skos:exactMatch OMIM:612011 celiac disease, susceptibility to, 13 semapv:UnspecifiedMatching MONDO:0012782 celiac disease, susceptibility to, 13 skos:exactMatch UMLS:C2677601 semapv:UnspecifiedMatching MONDO:0012783 RFT1-congenital disorder of glycosylation skos:exactMatch DOID:0080566 congenital disorder of glycosylation In semapv:UnspecifiedMatching MONDO:0012783 RFT1-congenital disorder of glycosylation skos:exactMatch MEDGEN:383145 semapv:UnspecifiedMatching MONDO:0012783 RFT1-congenital disorder of glycosylation skos:exactMatch OMIM:612015 congenital disorder of glycosylation, type in semapv:UnspecifiedMatching MONDO:0012783 RFT1-congenital disorder of glycosylation skos:exactMatch Orphanet:244310 RFT1-CDG semapv:UnspecifiedMatching MONDO:0012783 RFT1-congenital disorder of glycosylation skos:exactMatch SCTID:733084000 semapv:UnspecifiedMatching MONDO:0012783 RFT1-congenital disorder of glycosylation skos:exactMatch UMLS:C2677590 semapv:UnspecifiedMatching MONDO:0012783 RFT1-congenital disorder of glycosylation skos:exactMatch mesh:C567437 semapv:UnspecifiedMatching MONDO:0012784 autosomal recessive ataxia due to ubiquinone deficiency skos:exactMatch DOID:0070241 primary coenzyme Q10 deficiency 4 semapv:UnspecifiedMatching MONDO:0012784 autosomal recessive ataxia due to ubiquinone deficiency skos:exactMatch MEDGEN:436985 semapv:UnspecifiedMatching MONDO:0012784 autosomal recessive ataxia due to ubiquinone deficiency skos:exactMatch OMIM:612016 coenzyme Q10 deficiency, primary, 4 semapv:UnspecifiedMatching MONDO:0012784 autosomal recessive ataxia due to ubiquinone deficiency skos:exactMatch Orphanet:139485 Autosomal recessive ataxia due to ubiquinone deficiency semapv:UnspecifiedMatching MONDO:0012784 autosomal recessive ataxia due to ubiquinone deficiency skos:exactMatch SCTID:725394006 semapv:UnspecifiedMatching MONDO:0012784 autosomal recessive ataxia due to ubiquinone deficiency skos:exactMatch UMLS:C2677589 semapv:UnspecifiedMatching MONDO:0012784 autosomal recessive ataxia due to ubiquinone deficiency skos:exactMatch mesh:C567436 semapv:UnspecifiedMatching MONDO:0012785 pyloric stenosis, infantile hypertrophic, 3 skos:exactMatch MEDGEN:383144 semapv:UnspecifiedMatching MONDO:0012785 pyloric stenosis, infantile hypertrophic, 3 skos:exactMatch OMIM:612017 pyloric stenosis, infantile hypertrophic, 3 semapv:UnspecifiedMatching MONDO:0012785 pyloric stenosis, infantile hypertrophic, 3 skos:exactMatch UMLS:C2677588 semapv:UnspecifiedMatching MONDO:0012785 pyloric stenosis, infantile hypertrophic, 3 skos:exactMatch mesh:C567435 semapv:UnspecifiedMatching MONDO:0012786 juvenile cataract-microcornea-renal glucosuria syndrome skos:exactMatch DOID:0070353 cataract 47 semapv:UnspecifiedMatching MONDO:0012786 juvenile cataract-microcornea-renal glucosuria syndrome skos:exactMatch MEDGEN:934773 semapv:UnspecifiedMatching MONDO:0012786 juvenile cataract-microcornea-renal glucosuria syndrome skos:exactMatch OMIM:612018 cataract 47 semapv:UnspecifiedMatching MONDO:0012786 juvenile cataract-microcornea-renal glucosuria syndrome skos:exactMatch Orphanet:247794 Juvenile cataract-microcornea-renal glucosuria syndrome semapv:UnspecifiedMatching MONDO:0012786 juvenile cataract-microcornea-renal glucosuria syndrome skos:exactMatch SCTID:722457005 semapv:UnspecifiedMatching MONDO:0012786 juvenile cataract-microcornea-renal glucosuria syndrome skos:exactMatch UMLS:C4310806 semapv:UnspecifiedMatching MONDO:0012786 juvenile cataract-microcornea-renal glucosuria syndrome skos:exactMatch mesh:C567434 semapv:UnspecifiedMatching MONDO:0012787 hereditary spastic paraplegia 39 skos:exactMatch DOID:0110790 hereditary spastic paraplegia 39 semapv:UnspecifiedMatching MONDO:0012787 hereditary spastic paraplegia 39 skos:exactMatch MEDGEN:383142 semapv:UnspecifiedMatching MONDO:0012787 hereditary spastic paraplegia 39 skos:exactMatch OMIM:612020 spastic paraplegia 39, autosomal recessive semapv:UnspecifiedMatching MONDO:0012787 hereditary spastic paraplegia 39 skos:exactMatch Orphanet:139480 Autosomal recessive spastic paraplegia type 39 semapv:UnspecifiedMatching MONDO:0012787 hereditary spastic paraplegia 39 skos:exactMatch SCTID:719103009 semapv:UnspecifiedMatching MONDO:0012787 hereditary spastic paraplegia 39 skos:exactMatch UMLS:C2677586 semapv:UnspecifiedMatching MONDO:0012787 hereditary spastic paraplegia 39 skos:exactMatch mesh:C567433 semapv:UnspecifiedMatching MONDO:0012788 coronary heart disease, susceptibility to, 9 skos:exactMatch MEDGEN:436983 semapv:UnspecifiedMatching MONDO:0012788 coronary heart disease, susceptibility to, 9 skos:exactMatch OMIM:612030 coronary heart disease, susceptibility to, 9 semapv:UnspecifiedMatching MONDO:0012788 coronary heart disease, susceptibility to, 9 skos:exactMatch UMLS:C2677580 semapv:UnspecifiedMatching MONDO:0012789 dystonia 16 skos:exactMatch DOID:0090048 dystonia 16 semapv:UnspecifiedMatching MONDO:0012789 dystonia 16 skos:exactMatch MEDGEN:436979 semapv:UnspecifiedMatching MONDO:0012789 dystonia 16 skos:exactMatch NCIT:C168729 Dystonia 16 semapv:UnspecifiedMatching MONDO:0012789 dystonia 16 skos:exactMatch OMIM:612067 dystonia 16 semapv:UnspecifiedMatching MONDO:0012789 dystonia 16 skos:exactMatch Orphanet:210571 Dystonia 16 semapv:UnspecifiedMatching MONDO:0012789 dystonia 16 skos:exactMatch SCTID:722435003 semapv:UnspecifiedMatching MONDO:0012789 dystonia 16 skos:exactMatch UMLS:C2677567 semapv:UnspecifiedMatching MONDO:0012789 dystonia 16 skos:exactMatch icd11.foundation:548945828 Dystonia 16 semapv:UnspecifiedMatching MONDO:0012789 dystonia 16 skos:exactMatch mesh:C567430 semapv:UnspecifiedMatching MONDO:0012790 amyotrophic lateral sclerosis type 10 skos:exactMatch DOID:0060201 amyotrophic lateral sclerosis type 10 semapv:UnspecifiedMatching MONDO:0012790 amyotrophic lateral sclerosis type 10 skos:exactMatch MEDGEN:383137 semapv:UnspecifiedMatching MONDO:0012790 amyotrophic lateral sclerosis type 10 skos:exactMatch OMIM:612069 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia semapv:UnspecifiedMatching MONDO:0012790 amyotrophic lateral sclerosis type 10 skos:exactMatch UMLS:C2677565 semapv:UnspecifiedMatching MONDO:0012790 amyotrophic lateral sclerosis type 10 skos:exactMatch mesh:C567429 semapv:UnspecifiedMatching MONDO:0012791 mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria skos:exactMatch DOID:0080124 mitochondrial DNA depletion syndrome 5 semapv:UnspecifiedMatching MONDO:0012791 mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria skos:exactMatch MEDGEN:1876465 semapv:UnspecifiedMatching MONDO:0012791 mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria skos:exactMatch OMIM:612073 mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) semapv:UnspecifiedMatching MONDO:0012791 mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria skos:exactMatch Orphanet:1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria semapv:UnspecifiedMatching MONDO:0012791 mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria skos:exactMatch UMLS:C5980207 semapv:UnspecifiedMatching MONDO:0012791 mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria skos:exactMatch mesh:C567624 semapv:UnspecifiedMatching MONDO:0012792 mitochondrial DNA depletion syndrome 8a skos:exactMatch DOID:0070331 mitochondrial DNA depletion syndrome 8b semapv:UnspecifiedMatching MONDO:0012792 mitochondrial DNA depletion syndrome 8a skos:exactMatch DOID:0080127 mitochondrial DNA depletion syndrome 8a semapv:UnspecifiedMatching MONDO:0012792 mitochondrial DNA depletion syndrome 8a skos:exactMatch MEDGEN:412815 semapv:UnspecifiedMatching MONDO:0012792 mitochondrial DNA depletion syndrome 8a skos:exactMatch OMIM:612075 mitochondrial DNA depletion syndrome 8a (encephalomyopathic type with renal tubulopathy) semapv:UnspecifiedMatching MONDO:0012792 mitochondrial DNA depletion syndrome 8a skos:exactMatch Orphanet:255235 Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy semapv:UnspecifiedMatching MONDO:0012792 mitochondrial DNA depletion syndrome 8a skos:exactMatch SCTID:765100000 semapv:UnspecifiedMatching MONDO:0012792 mitochondrial DNA depletion syndrome 8a skos:exactMatch UMLS:C2749861 semapv:UnspecifiedMatching MONDO:0012793 hypouricemia, renal, 2 skos:exactMatch MEDGEN:436974 semapv:UnspecifiedMatching MONDO:0012793 hypouricemia, renal, 2 skos:exactMatch OMIM:612076 hypouricemia, renal, 2 semapv:UnspecifiedMatching MONDO:0012793 hypouricemia, renal, 2 skos:exactMatch UMLS:C2677549 semapv:UnspecifiedMatching MONDO:0012793 hypouricemia, renal, 2 skos:exactMatch mesh:C567426 semapv:UnspecifiedMatching MONDO:0012794 ANE syndrome skos:exactMatch DOID:0112244 alopecia, neurologic defects, and endocrinopathy syndrome semapv:UnspecifiedMatching MONDO:0012794 ANE syndrome skos:exactMatch MEDGEN:394313 semapv:UnspecifiedMatching MONDO:0012794 ANE syndrome skos:exactMatch OMIM:612079 alopecia, neurologic defects, and endocrinopathy syndrome semapv:UnspecifiedMatching MONDO:0012794 ANE syndrome skos:exactMatch Orphanet:157954 ANE syndrome semapv:UnspecifiedMatching MONDO:0012794 ANE syndrome skos:exactMatch UMLS:C2677535 semapv:UnspecifiedMatching MONDO:0012794 ANE syndrome skos:exactMatch mesh:C567425 semapv:UnspecifiedMatching MONDO:0012795 hypophosphatemic rickets and hyperparathyroidism skos:exactMatch MEDGEN:383131 semapv:UnspecifiedMatching MONDO:0012795 hypophosphatemic rickets and hyperparathyroidism skos:exactMatch OMIM:612089 hypophosphatemic rickets and hyperparathyroidism semapv:UnspecifiedMatching MONDO:0012795 hypophosphatemic rickets and hyperparathyroidism skos:exactMatch UMLS:C2677524 semapv:UnspecifiedMatching MONDO:0012795 hypophosphatemic rickets and hyperparathyroidism skos:exactMatch mesh:C567423 semapv:UnspecifiedMatching MONDO:0012796 retinitis pigmentosa 41 skos:exactMatch DOID:0110376 retinitis pigmentosa 41 semapv:UnspecifiedMatching MONDO:0012796 retinitis pigmentosa 41 skos:exactMatch MEDGEN:383126 semapv:UnspecifiedMatching MONDO:0012796 retinitis pigmentosa 41 skos:exactMatch OMIM:612095 retinitis pigmentosa 41 semapv:UnspecifiedMatching MONDO:0012796 retinitis pigmentosa 41 skos:exactMatch UMLS:C2677516 semapv:UnspecifiedMatching MONDO:0012796 retinitis pigmentosa 41 skos:exactMatch mesh:C567422 semapv:UnspecifiedMatching MONDO:0012797 otosclerosis 8 skos:exactMatch DOID:0060926 otosclerosis 8 semapv:UnspecifiedMatching MONDO:0012797 otosclerosis 8 skos:exactMatch MEDGEN:436965 semapv:UnspecifiedMatching MONDO:0012797 otosclerosis 8 skos:exactMatch OMIM:612096 otosclerosis 8 semapv:UnspecifiedMatching MONDO:0012797 otosclerosis 8 skos:exactMatch UMLS:C2677515 semapv:UnspecifiedMatching MONDO:0012797 otosclerosis 8 skos:exactMatch mesh:C567421 semapv:UnspecifiedMatching MONDO:0012798 deafness, unilateral, with delayed endolymphatic hydrops skos:exactMatch MEDGEN:393762 semapv:UnspecifiedMatching MONDO:0012798 deafness, unilateral, with delayed endolymphatic hydrops skos:exactMatch OMIM:612097 deafness, unilateral, with delayed endolymphatic hydrops semapv:UnspecifiedMatching MONDO:0012798 deafness, unilateral, with delayed endolymphatic hydrops skos:exactMatch UMLS:C2677512 semapv:UnspecifiedMatching MONDO:0012798 deafness, unilateral, with delayed endolymphatic hydrops skos:exactMatch mesh:C567420 semapv:UnspecifiedMatching MONDO:0012799 hypertrophic cardiomyopathy 11 skos:exactMatch DOID:0110317 hypertrophic cardiomyopathy 11 semapv:UnspecifiedMatching MONDO:0012799 hypertrophic cardiomyopathy 11 skos:exactMatch MEDGEN:436962 semapv:UnspecifiedMatching MONDO:0012799 hypertrophic cardiomyopathy 11 skos:exactMatch OMIM:612098 cardiomyopathy, familial hypertrophic, 11 semapv:UnspecifiedMatching MONDO:0012799 hypertrophic cardiomyopathy 11 skos:exactMatch UMLS:C2677506 semapv:UnspecifiedMatching MONDO:0012799 hypertrophic cardiomyopathy 11 skos:exactMatch mesh:C567419 semapv:UnspecifiedMatching MONDO:0012800 trichoepithelioma, multiple familial, 2 skos:exactMatch MEDGEN:394303 semapv:UnspecifiedMatching MONDO:0012800 trichoepithelioma, multiple familial, 2 skos:exactMatch OMIM:612099 trichoepithelioma, multiple familial, 2 semapv:UnspecifiedMatching MONDO:0012800 trichoepithelioma, multiple familial, 2 skos:exactMatch UMLS:C2677505 semapv:UnspecifiedMatching MONDO:0012800 trichoepithelioma, multiple familial, 2 skos:exactMatch mesh:C567418 semapv:UnspecifiedMatching MONDO:0012801 autism, susceptibility to, 15 skos:exactMatch MEDGEN:394302 semapv:UnspecifiedMatching MONDO:0012801 autism, susceptibility to, 15 skos:exactMatch OMIM:612100 autism, susceptibility to, 15 semapv:UnspecifiedMatching MONDO:0012801 autism, susceptibility to, 15 skos:exactMatch UMLS:C2677504 semapv:UnspecifiedMatching MONDO:0012802 oculoauricular syndrome skos:exactMatch DOID:0060482 oculoauricular syndrome semapv:UnspecifiedMatching MONDO:0012802 oculoauricular syndrome skos:exactMatch MEDGEN:393758 semapv:UnspecifiedMatching MONDO:0012802 oculoauricular syndrome skos:exactMatch OMIM:612109 oculoauricular syndrome semapv:UnspecifiedMatching MONDO:0012802 oculoauricular syndrome skos:exactMatch Orphanet:157962 Oculoauricular syndrome, Schorderet type semapv:UnspecifiedMatching MONDO:0012802 oculoauricular syndrome skos:exactMatch UMLS:C2677500 semapv:UnspecifiedMatching MONDO:0012802 oculoauricular syndrome skos:exactMatch mesh:C567416 semapv:UnspecifiedMatching MONDO:0012803 diarrhea-vomiting due to trehalase deficiency skos:exactMatch MEDGEN:75660 semapv:UnspecifiedMatching MONDO:0012803 diarrhea-vomiting due to trehalase deficiency skos:exactMatch OMIM:612119 trehalase deficiency semapv:UnspecifiedMatching MONDO:0012803 diarrhea-vomiting due to trehalase deficiency skos:exactMatch Orphanet:103909 Trehalase deficiency semapv:UnspecifiedMatching MONDO:0012803 diarrhea-vomiting due to trehalase deficiency skos:exactMatch SCTID:84193000 semapv:UnspecifiedMatching MONDO:0012803 diarrhea-vomiting due to trehalase deficiency skos:exactMatch UMLS:C0268187 semapv:UnspecifiedMatching MONDO:0012803 diarrhea-vomiting due to trehalase deficiency skos:exactMatch icd11.foundation:2025219157 Alpha, alpha trehalase deficiency semapv:UnspecifiedMatching MONDO:0012803 diarrhea-vomiting due to trehalase deficiency skos:exactMatch mesh:C562603 semapv:UnspecifiedMatching MONDO:0012804 hypertrophic cardiomyopathy 12 skos:exactMatch DOID:0110318 hypertrophic cardiomyopathy 12 semapv:UnspecifiedMatching MONDO:0012804 hypertrophic cardiomyopathy 12 skos:exactMatch MEDGEN:393755 semapv:UnspecifiedMatching MONDO:0012804 hypertrophic cardiomyopathy 12 skos:exactMatch OMIM:612124 cardiomyopathy, familial hypertrophic, 12 semapv:UnspecifiedMatching MONDO:0012804 hypertrophic cardiomyopathy 12 skos:exactMatch UMLS:C2677491 semapv:UnspecifiedMatching MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 skos:exactMatch DOID:0090045 glucose transporter type 1 deficiency syndrome 2 semapv:UnspecifiedMatching MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 skos:exactMatch MEDGEN:330866 semapv:UnspecifiedMatching MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 skos:exactMatch OMIM:612126 glut1 deficiency syndrome 2 semapv:UnspecifiedMatching MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 skos:exactMatch Orphanet:98811 Paroxysmal exertion-induced dyskinesia semapv:UnspecifiedMatching MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 skos:exactMatch SCTID:724072002 semapv:UnspecifiedMatching MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 skos:exactMatch UMLS:C1842534 semapv:UnspecifiedMatching MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 skos:exactMatch mesh:C564288 semapv:UnspecifiedMatching MONDO:0012806 ectodermal dysplasia and immunodeficiency 2 skos:exactMatch DOID:0081079 ectodermal dysplasia and immunodeficiency 2 semapv:UnspecifiedMatching MONDO:0012806 ectodermal dysplasia and immunodeficiency 2 skos:exactMatch MEDGEN:394295 semapv:UnspecifiedMatching MONDO:0012806 ectodermal dysplasia and immunodeficiency 2 skos:exactMatch NCIT:C176826 Ectodermal Dysplasia and Immunodeficiency 2 semapv:UnspecifiedMatching MONDO:0012806 ectodermal dysplasia and immunodeficiency 2 skos:exactMatch OMIM:612132 ectodermal dysplasia and immunodeficiency 2 semapv:UnspecifiedMatching MONDO:0012806 ectodermal dysplasia and immunodeficiency 2 skos:exactMatch UMLS:C2677481 semapv:UnspecifiedMatching MONDO:0012806 ectodermal dysplasia and immunodeficiency 2 skos:exactMatch mesh:C567411 semapv:UnspecifiedMatching MONDO:0012807 epidermolysis bullosa simplex 5C, with pyloric atresia skos:exactMatch MEDGEN:436922 semapv:UnspecifiedMatching MONDO:0012807 epidermolysis bullosa simplex 5C, with pyloric atresia skos:exactMatch OMIM:612138 epidermolysis bullosa simplex 5c, with pyloric atresia semapv:UnspecifiedMatching MONDO:0012807 epidermolysis bullosa simplex 5C, with pyloric atresia skos:exactMatch Orphanet:158684 Epidermolysis bullosa simplex with pyloric atresia semapv:UnspecifiedMatching MONDO:0012807 epidermolysis bullosa simplex 5C, with pyloric atresia skos:exactMatch SCTID:716701004 semapv:UnspecifiedMatching MONDO:0012807 epidermolysis bullosa simplex 5C, with pyloric atresia skos:exactMatch UMLS:C2677349 semapv:UnspecifiedMatching MONDO:0012807 epidermolysis bullosa simplex 5C, with pyloric atresia skos:exactMatch mesh:C567408 semapv:UnspecifiedMatching MONDO:0012808 dilated cardiomyopathy 1AA skos:exactMatch DOID:0110428 dilated cardiomyopathy 1AA semapv:UnspecifiedMatching MONDO:0012808 dilated cardiomyopathy 1AA skos:exactMatch MEDGEN:393713 semapv:UnspecifiedMatching MONDO:0012808 dilated cardiomyopathy 1AA skos:exactMatch OMIM:612158 cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction semapv:UnspecifiedMatching MONDO:0012808 dilated cardiomyopathy 1AA skos:exactMatch UMLS:C2677338 semapv:UnspecifiedMatching MONDO:0012808 dilated cardiomyopathy 1AA skos:exactMatch mesh:C567407 semapv:UnspecifiedMatching MONDO:0012809 histiocytoma, Angiomatoid fibrous skos:exactMatch MEDGEN:226845 semapv:UnspecifiedMatching MONDO:0012809 histiocytoma, Angiomatoid fibrous skos:exactMatch NCIT:C6494 Angiomatoid Fibrous Histiocytoma semapv:UnspecifiedMatching MONDO:0012809 histiocytoma, Angiomatoid fibrous skos:exactMatch OMIM:612160 histiocytoma, angiomatoid fibrous semapv:UnspecifiedMatching MONDO:0012809 histiocytoma, Angiomatoid fibrous skos:exactMatch Orphanet:569164 Angiomatoid fibrous histiocytoma semapv:UnspecifiedMatching MONDO:0012809 histiocytoma, Angiomatoid fibrous skos:exactMatch UMLS:C1266127 semapv:UnspecifiedMatching MONDO:0012809 histiocytoma, Angiomatoid fibrous skos:exactMatch mesh:C563181 semapv:UnspecifiedMatching MONDO:0012810 aneurysm, intracranial berry, 7 skos:exactMatch DOID:0080970 intracranial berry aneurysm 7 semapv:UnspecifiedMatching MONDO:0012810 aneurysm, intracranial berry, 7 skos:exactMatch MEDGEN:436919 semapv:UnspecifiedMatching MONDO:0012810 aneurysm, intracranial berry, 7 skos:exactMatch OMIM:612161 aneurysm, intracranial berry, 7 semapv:UnspecifiedMatching MONDO:0012810 aneurysm, intracranial berry, 7 skos:exactMatch UMLS:C2677337 semapv:UnspecifiedMatching MONDO:0012810 aneurysm, intracranial berry, 7 skos:exactMatch mesh:C567406 semapv:UnspecifiedMatching MONDO:0012811 aneurysm, intracranial berry, 8 skos:exactMatch DOID:0080971 intracranial berry aneurysm 8 semapv:UnspecifiedMatching MONDO:0012811 aneurysm, intracranial berry, 8 skos:exactMatch MEDGEN:393712 semapv:UnspecifiedMatching MONDO:0012811 aneurysm, intracranial berry, 8 skos:exactMatch OMIM:612162 aneurysm, intracranial berry, 8 semapv:UnspecifiedMatching MONDO:0012811 aneurysm, intracranial berry, 8 skos:exactMatch UMLS:C2677336 semapv:UnspecifiedMatching MONDO:0012811 aneurysm, intracranial berry, 8 skos:exactMatch mesh:C567405 semapv:UnspecifiedMatching MONDO:0012812 developmental and epileptic encephalopathy, 4 skos:exactMatch DOID:0080436 developmental and epileptic encephalopathy 4 semapv:UnspecifiedMatching MONDO:0012812 developmental and epileptic encephalopathy, 4 skos:exactMatch MEDGEN:436917 semapv:UnspecifiedMatching MONDO:0012812 developmental and epileptic encephalopathy, 4 skos:exactMatch NCIT:C162472 Developmental and Epileptic Encephalopathy 4 semapv:UnspecifiedMatching MONDO:0012812 developmental and epileptic encephalopathy, 4 skos:exactMatch OMIM:612164 developmental and epileptic encephalopathy 4 semapv:UnspecifiedMatching MONDO:0012812 developmental and epileptic encephalopathy, 4 skos:exactMatch Orphanet:599373 STXBP1-related encephalopathy semapv:UnspecifiedMatching MONDO:0012812 developmental and epileptic encephalopathy, 4 skos:exactMatch SCTID:768666006 semapv:UnspecifiedMatching MONDO:0012812 developmental and epileptic encephalopathy, 4 skos:exactMatch UMLS:C2677326 semapv:UnspecifiedMatching MONDO:0012812 developmental and epileptic encephalopathy, 4 skos:exactMatch mesh:C567404 semapv:UnspecifiedMatching MONDO:0012813 retinitis pigmentosa 29 skos:exactMatch DOID:0110378 retinitis pigmentosa 29 semapv:UnspecifiedMatching MONDO:0012813 retinitis pigmentosa 29 skos:exactMatch MEDGEN:393710 semapv:UnspecifiedMatching MONDO:0012813 retinitis pigmentosa 29 skos:exactMatch OMIM:612165 retinitis pigmentosa 29 semapv:UnspecifiedMatching MONDO:0012813 retinitis pigmentosa 29 skos:exactMatch UMLS:C2677325 semapv:UnspecifiedMatching MONDO:0012813 retinitis pigmentosa 29 skos:exactMatch mesh:C567403 semapv:UnspecifiedMatching MONDO:0012814 diastasis recti and weakness of the linea alba skos:exactMatch MEDGEN:394255 semapv:UnspecifiedMatching MONDO:0012814 diastasis recti and weakness of the linea alba skos:exactMatch OMIM:612198 diastasis recti and weakness of the linea alba semapv:UnspecifiedMatching MONDO:0012814 diastasis recti and weakness of the linea alba skos:exactMatch UMLS:C2677303 semapv:UnspecifiedMatching MONDO:0012814 diastasis recti and weakness of the linea alba skos:exactMatch mesh:C567402 semapv:UnspecifiedMatching MONDO:0012815 Coats plus syndrome skos:exactMatch MEDGEN:383079 semapv:UnspecifiedMatching MONDO:0012815 Coats plus syndrome skos:exactMatch OMIMPS:612199 Cerebroretinal microangiopathy with calcfications and cysts semapv:UnspecifiedMatching MONDO:0012815 Coats plus syndrome skos:exactMatch Orphanet:313838 Coats plus syndrome semapv:UnspecifiedMatching MONDO:0012815 Coats plus syndrome skos:exactMatch SCTID:711482008 semapv:UnspecifiedMatching MONDO:0012815 Coats plus syndrome skos:exactMatch UMLS:C2677299 semapv:UnspecifiedMatching MONDO:0012815 Coats plus syndrome skos:exactMatch mesh:C567401 semapv:UnspecifiedMatching MONDO:0012816 atrial fibrillation, familial, 6 skos:exactMatch MEDGEN:394252 semapv:UnspecifiedMatching MONDO:0012816 atrial fibrillation, familial, 6 skos:exactMatch OMIM:612201 atrial fibrillation, familial, 6 semapv:UnspecifiedMatching MONDO:0012816 atrial fibrillation, familial, 6 skos:exactMatch UMLS:C2677294 semapv:UnspecifiedMatching MONDO:0012816 atrial fibrillation, familial, 6 skos:exactMatch mesh:C567400 semapv:UnspecifiedMatching MONDO:0012817 Ewing sarcoma skos:exactMatch DOID:3369 Ewing sarcoma semapv:UnspecifiedMatching MONDO:0012817 Ewing sarcoma skos:exactMatch EFO:0000174 semapv:UnspecifiedMatching MONDO:0012817 Ewing sarcoma skos:exactMatch MEDGEN:107816 semapv:UnspecifiedMatching MONDO:0012817 Ewing sarcoma skos:exactMatch NCIT:C4817 Ewing Sarcoma semapv:UnspecifiedMatching MONDO:0012817 Ewing sarcoma skos:exactMatch OMIM:612219 ewing sarcoma semapv:UnspecifiedMatching MONDO:0012817 Ewing sarcoma skos:exactMatch Orphanet:319 Skeletal Ewing sarcoma semapv:UnspecifiedMatching MONDO:0012817 Ewing sarcoma skos:exactMatch UMLS:C0553580 semapv:UnspecifiedMatching MONDO:0012817 Ewing sarcoma skos:exactMatch icd11.foundation:458106328 semapv:UnspecifiedMatching MONDO:0012817 Ewing sarcoma skos:exactMatch mesh:D012512 semapv:UnspecifiedMatching MONDO:0012818 maturity-onset diabetes of the young type 9 skos:exactMatch DOID:0111107 maturity-onset diabetes of the young type 9 semapv:UnspecifiedMatching MONDO:0012818 maturity-onset diabetes of the young type 9 skos:exactMatch MEDGEN:383033 semapv:UnspecifiedMatching MONDO:0012818 maturity-onset diabetes of the young type 9 skos:exactMatch OMIM:612225 maturity-onset diabetes of the young, type 9 semapv:UnspecifiedMatching MONDO:0012818 maturity-onset diabetes of the young type 9 skos:exactMatch SCTID:609576002 semapv:UnspecifiedMatching MONDO:0012818 maturity-onset diabetes of the young type 9 skos:exactMatch UMLS:C2677132 semapv:UnspecifiedMatching MONDO:0012818 maturity-onset diabetes of the young type 9 skos:exactMatch mesh:C567393 semapv:UnspecifiedMatching MONDO:0012819 diabetic ketoacidosis skos:exactMatch DOID:1837 diabetic ketoacidosis semapv:UnspecifiedMatching MONDO:0012819 diabetic ketoacidosis skos:exactMatch EFO:1000897 semapv:UnspecifiedMatching MONDO:0012819 diabetic ketoacidosis skos:exactMatch MEDGEN:8351 semapv:UnspecifiedMatching MONDO:0012819 diabetic ketoacidosis skos:exactMatch SCTID:420422005 semapv:UnspecifiedMatching MONDO:0012819 diabetic ketoacidosis skos:exactMatch UMLS:C0011880 semapv:UnspecifiedMatching MONDO:0012819 diabetic ketoacidosis skos:exactMatch mesh:D016883 semapv:UnspecifiedMatching MONDO:0012820 colorectal cancer, susceptibility to, 3 skos:exactMatch MEDGEN:436866 semapv:UnspecifiedMatching MONDO:0012820 colorectal cancer, susceptibility to, 3 skos:exactMatch OMIM:612229 colorectal cancer, susceptibility to, 3 semapv:UnspecifiedMatching MONDO:0012820 colorectal cancer, susceptibility to, 3 skos:exactMatch UMLS:C2677123 semapv:UnspecifiedMatching MONDO:0012821 colorectal cancer, susceptibility to, 5 skos:exactMatch MEDGEN:393664 semapv:UnspecifiedMatching MONDO:0012821 colorectal cancer, susceptibility to, 5 skos:exactMatch OMIM:612230 colorectal cancer, susceptibility to, 5 semapv:UnspecifiedMatching MONDO:0012821 colorectal cancer, susceptibility to, 5 skos:exactMatch UMLS:C2677122 semapv:UnspecifiedMatching MONDO:0012822 colorectal cancer, susceptibility to, 6 skos:exactMatch MEDGEN:436865 semapv:UnspecifiedMatching MONDO:0012822 colorectal cancer, susceptibility to, 6 skos:exactMatch OMIM:612231 colorectal cancer, susceptibility to, 6 semapv:UnspecifiedMatching MONDO:0012822 colorectal cancer, susceptibility to, 6 skos:exactMatch UMLS:C2677121 semapv:UnspecifiedMatching MONDO:0012823 colorectal cancer, susceptibility to, 7 skos:exactMatch MEDGEN:394209 semapv:UnspecifiedMatching MONDO:0012823 colorectal cancer, susceptibility to, 7 skos:exactMatch OMIM:612232 colorectal cancer, susceptibility to, 7 semapv:UnspecifiedMatching MONDO:0012823 colorectal cancer, susceptibility to, 7 skos:exactMatch UMLS:C2677120 semapv:UnspecifiedMatching MONDO:0012824 hypomyelinating leukodystrophy 4 skos:exactMatch DOID:0060789 hypomyelinating leukodystrophy 4 semapv:UnspecifiedMatching MONDO:0012824 hypomyelinating leukodystrophy 4 skos:exactMatch MEDGEN:383026 semapv:UnspecifiedMatching MONDO:0012824 hypomyelinating leukodystrophy 4 skos:exactMatch OMIM:612233 leukodystrophy, hypomyelinating, 4 semapv:UnspecifiedMatching MONDO:0012824 hypomyelinating leukodystrophy 4 skos:exactMatch Orphanet:280288 Pelizaeus-Merzbacher-like disease due to HSPD1 mutation semapv:UnspecifiedMatching MONDO:0012824 hypomyelinating leukodystrophy 4 skos:exactMatch UMLS:C2677109 semapv:UnspecifiedMatching MONDO:0012824 hypomyelinating leukodystrophy 4 skos:exactMatch mesh:C567390 semapv:UnspecifiedMatching MONDO:0012825 extraskeletal myxoid chondrosarcoma skos:exactMatch MEDGEN:220892 semapv:UnspecifiedMatching MONDO:0012825 extraskeletal myxoid chondrosarcoma skos:exactMatch NCIT:C27502 Extraskeletal Myxoid Chondrosarcoma semapv:UnspecifiedMatching MONDO:0012825 extraskeletal myxoid chondrosarcoma skos:exactMatch OMIM:612237 chondrosarcoma, extraskeletal myxoid semapv:UnspecifiedMatching MONDO:0012825 extraskeletal myxoid chondrosarcoma skos:exactMatch Orphanet:209916 Extraskeletal myxoid chondrosarcoma semapv:UnspecifiedMatching MONDO:0012825 extraskeletal myxoid chondrosarcoma skos:exactMatch SCTID:404079008 semapv:UnspecifiedMatching MONDO:0012825 extraskeletal myxoid chondrosarcoma skos:exactMatch UMLS:C1275278 semapv:UnspecifiedMatching MONDO:0012825 extraskeletal myxoid chondrosarcoma skos:exactMatch mesh:C563195 semapv:UnspecifiedMatching MONDO:0012826 scoliosis, isolated, susceptibility to, 4 skos:exactMatch MEDGEN:393659 semapv:UnspecifiedMatching MONDO:0012826 scoliosis, isolated, susceptibility to, 4 skos:exactMatch OMIM:612238 scoliosis, isolated, susceptibility to, 4 semapv:UnspecifiedMatching MONDO:0012826 scoliosis, isolated, susceptibility to, 4 skos:exactMatch UMLS:C2677108 semapv:UnspecifiedMatching MONDO:0012827 scoliosis, isolated, susceptibility to, 5 skos:exactMatch MEDGEN:436862 semapv:UnspecifiedMatching MONDO:0012827 scoliosis, isolated, susceptibility to, 5 skos:exactMatch OMIM:612239 scoliosis, isolated, susceptibility to, 5 semapv:UnspecifiedMatching MONDO:0012827 scoliosis, isolated, susceptibility to, 5 skos:exactMatch UMLS:C2677107 semapv:UnspecifiedMatching MONDO:0012828 atrial fibrillation, familial, 7 skos:exactMatch MEDGEN:393658 semapv:UnspecifiedMatching MONDO:0012828 atrial fibrillation, familial, 7 skos:exactMatch OMIM:612240 atrial fibrillation, familial, 7 semapv:UnspecifiedMatching MONDO:0012828 atrial fibrillation, familial, 7 skos:exactMatch UMLS:C2677106 semapv:UnspecifiedMatching MONDO:0012828 atrial fibrillation, familial, 7 skos:exactMatch mesh:C567389 semapv:UnspecifiedMatching MONDO:0012829 inflammatory bowel disease 12 skos:exactMatch DOID:0110887 inflammatory bowel disease 12 semapv:UnspecifiedMatching MONDO:0012829 inflammatory bowel disease 12 skos:exactMatch MEDGEN:436861 semapv:UnspecifiedMatching MONDO:0012829 inflammatory bowel disease 12 skos:exactMatch OMIM:612241 inflammatory bowel disease 12 semapv:UnspecifiedMatching MONDO:0012829 inflammatory bowel disease 12 skos:exactMatch UMLS:C2677105 semapv:UnspecifiedMatching MONDO:0012829 inflammatory bowel disease 12 skos:exactMatch mesh:C567388 semapv:UnspecifiedMatching MONDO:0012830 chromosome 10q23 deletion syndrome skos:exactMatch DOID:0060389 chromosome 10q23 deletion syndrome semapv:UnspecifiedMatching MONDO:0012830 chromosome 10q23 deletion syndrome skos:exactMatch MEDGEN:906099 semapv:UnspecifiedMatching MONDO:0012830 chromosome 10q23 deletion syndrome skos:exactMatch OMIM:612242 chromosome 10q22.3-q23.2 deletion syndrome semapv:UnspecifiedMatching MONDO:0012830 chromosome 10q23 deletion syndrome skos:exactMatch Orphanet:276413 10q22.3q23.3 microdeletion syndrome semapv:UnspecifiedMatching MONDO:0012830 chromosome 10q23 deletion syndrome skos:exactMatch UMLS:C4225669 semapv:UnspecifiedMatching MONDO:0012830 chromosome 10q23 deletion syndrome skos:exactMatch mesh:C567385 semapv:UnspecifiedMatching MONDO:0012831 inflammatory bowel disease 13 skos:exactMatch DOID:0110893 inflammatory bowel disease 13 semapv:UnspecifiedMatching MONDO:0012831 inflammatory bowel disease 13 skos:exactMatch MEDGEN:394202 semapv:UnspecifiedMatching MONDO:0012831 inflammatory bowel disease 13 skos:exactMatch OMIM:612244 inflammatory bowel disease 13 semapv:UnspecifiedMatching MONDO:0012831 inflammatory bowel disease 13 skos:exactMatch UMLS:C2677101 semapv:UnspecifiedMatching MONDO:0012831 inflammatory bowel disease 13 skos:exactMatch mesh:C567384 semapv:UnspecifiedMatching MONDO:0012832 inflammatory bowel disease 14 skos:exactMatch DOID:0110895 inflammatory bowel disease 14 semapv:UnspecifiedMatching MONDO:0012832 inflammatory bowel disease 14 skos:exactMatch MEDGEN:436860 semapv:UnspecifiedMatching MONDO:0012832 inflammatory bowel disease 14 skos:exactMatch OMIM:612245 inflammatory bowel disease 14 semapv:UnspecifiedMatching MONDO:0012832 inflammatory bowel disease 14 skos:exactMatch UMLS:C2677100 semapv:UnspecifiedMatching MONDO:0012832 inflammatory bowel disease 14 skos:exactMatch mesh:C567383 semapv:UnspecifiedMatching MONDO:0012833 Crouzon syndrome-acanthosis nigricans syndrome skos:exactMatch DOID:0111161 Crouzon syndrome-acanthosis nigricans syndrome semapv:UnspecifiedMatching MONDO:0012833 Crouzon syndrome-acanthosis nigricans syndrome skos:exactMatch MEDGEN:394201 semapv:UnspecifiedMatching MONDO:0012833 Crouzon syndrome-acanthosis nigricans syndrome skos:exactMatch NCIT:C38145 Chronic Allograft Nephropathy semapv:UnspecifiedMatching MONDO:0012833 Crouzon syndrome-acanthosis nigricans syndrome skos:exactMatch OMIM:612247 crouzon syndrome with acanthosis nigricans semapv:UnspecifiedMatching MONDO:0012833 Crouzon syndrome-acanthosis nigricans syndrome skos:exactMatch Orphanet:93262 Crouzon syndrome-acanthosis nigricans syndrome semapv:UnspecifiedMatching MONDO:0012833 Crouzon syndrome-acanthosis nigricans syndrome skos:exactMatch SCTID:702361006 semapv:UnspecifiedMatching MONDO:0012833 Crouzon syndrome-acanthosis nigricans syndrome skos:exactMatch UMLS:C2677099 semapv:UnspecifiedMatching MONDO:0012833 Crouzon syndrome-acanthosis nigricans syndrome skos:exactMatch mesh:C567382 semapv:UnspecifiedMatching MONDO:0012834 systemic lupus erythematosus, susceptibility to, 10 skos:exactMatch MEDGEN:436859 semapv:UnspecifiedMatching MONDO:0012834 systemic lupus erythematosus, susceptibility to, 10 skos:exactMatch OMIM:612251 systemic lupus erythematosus, susceptibility to, 10 semapv:UnspecifiedMatching MONDO:0012834 systemic lupus erythematosus, susceptibility to, 10 skos:exactMatch UMLS:C2677097 semapv:UnspecifiedMatching MONDO:0012835 systemic lupus erythematosus, susceptibility to, 11 skos:exactMatch MEDGEN:393656 semapv:UnspecifiedMatching MONDO:0012835 systemic lupus erythematosus, susceptibility to, 11 skos:exactMatch OMIM:612253 systemic lupus erythematosus, susceptibility to, 11 semapv:UnspecifiedMatching MONDO:0012835 systemic lupus erythematosus, susceptibility to, 11 skos:exactMatch UMLS:C2677096 semapv:UnspecifiedMatching MONDO:0012836 systemic lupus erythematosus, susceptibility to, 12 skos:exactMatch MEDGEN:436858 semapv:UnspecifiedMatching MONDO:0012836 systemic lupus erythematosus, susceptibility to, 12 skos:exactMatch OMIM:612254 systemic lupus erythematosus, susceptibility to, 12 semapv:UnspecifiedMatching MONDO:0012836 systemic lupus erythematosus, susceptibility to, 12 skos:exactMatch UMLS:C2677095 semapv:UnspecifiedMatching MONDO:0012837 inflammatory bowel disease 15 skos:exactMatch DOID:0110897 inflammatory bowel disease 15 semapv:UnspecifiedMatching MONDO:0012837 inflammatory bowel disease 15 skos:exactMatch MEDGEN:383025 semapv:UnspecifiedMatching MONDO:0012837 inflammatory bowel disease 15 skos:exactMatch OMIM:612255 inflammatory bowel disease 15 semapv:UnspecifiedMatching MONDO:0012837 inflammatory bowel disease 15 skos:exactMatch UMLS:C2677094 semapv:UnspecifiedMatching MONDO:0012837 inflammatory bowel disease 15 skos:exactMatch mesh:C567381 semapv:UnspecifiedMatching MONDO:0012838 inflammatory bowel disease 16 skos:exactMatch DOID:0110896 inflammatory bowel disease 16 semapv:UnspecifiedMatching MONDO:0012838 inflammatory bowel disease 16 skos:exactMatch MEDGEN:383024 semapv:UnspecifiedMatching MONDO:0012838 inflammatory bowel disease 16 skos:exactMatch OMIM:612259 inflammatory bowel disease 16 semapv:UnspecifiedMatching MONDO:0012838 inflammatory bowel disease 16 skos:exactMatch UMLS:C2677093 semapv:UnspecifiedMatching MONDO:0012838 inflammatory bowel disease 16 skos:exactMatch mesh:C567380 semapv:UnspecifiedMatching MONDO:0012839 pyogenic bacterial infections due to MyD88 deficiency skos:exactMatch MEDGEN:383023 semapv:UnspecifiedMatching MONDO:0012839 pyogenic bacterial infections due to MyD88 deficiency skos:exactMatch OMIM:612260 immunodeficiency 68 semapv:UnspecifiedMatching MONDO:0012839 pyogenic bacterial infections due to MyD88 deficiency skos:exactMatch UMLS:C2677092 semapv:UnspecifiedMatching MONDO:0012839 pyogenic bacterial infections due to MyD88 deficiency skos:exactMatch icd11.foundation:444523526 Pyogenic bacterial infections due to MyD88 deficiency semapv:UnspecifiedMatching MONDO:0012839 pyogenic bacterial infections due to MyD88 deficiency skos:exactMatch mesh:C567379 semapv:UnspecifiedMatching MONDO:0012840 inflammatory bowel disease 17 skos:exactMatch DOID:0110883 inflammatory bowel disease 17 semapv:UnspecifiedMatching MONDO:0012840 inflammatory bowel disease 17 skos:exactMatch MEDGEN:436857 semapv:UnspecifiedMatching MONDO:0012840 inflammatory bowel disease 17 skos:exactMatch OMIM:612261 inflammatory bowel disease 17 semapv:UnspecifiedMatching MONDO:0012840 inflammatory bowel disease 17 skos:exactMatch UMLS:C2677091 semapv:UnspecifiedMatching MONDO:0012840 inflammatory bowel disease 17 skos:exactMatch mesh:C567378 semapv:UnspecifiedMatching MONDO:0012841 inflammatory bowel disease 18 skos:exactMatch DOID:0110888 inflammatory bowel disease 18 semapv:UnspecifiedMatching MONDO:0012841 inflammatory bowel disease 18 skos:exactMatch MEDGEN:393655 semapv:UnspecifiedMatching MONDO:0012841 inflammatory bowel disease 18 skos:exactMatch OMIM:612262 inflammatory bowel disease 18 semapv:UnspecifiedMatching MONDO:0012841 inflammatory bowel disease 18 skos:exactMatch UMLS:C2677090 semapv:UnspecifiedMatching MONDO:0012841 inflammatory bowel disease 18 skos:exactMatch mesh:C567377 semapv:UnspecifiedMatching MONDO:0012842 melanoma, cutaneous malignant, susceptibility to, 7 skos:exactMatch MEDGEN:394200 semapv:UnspecifiedMatching MONDO:0012842 melanoma, cutaneous malignant, susceptibility to, 7 skos:exactMatch OMIM:612263 melanoma, cutaneous malignant, susceptibility to, 7 semapv:UnspecifiedMatching MONDO:0012842 melanoma, cutaneous malignant, susceptibility to, 7 skos:exactMatch UMLS:C2677089 semapv:UnspecifiedMatching MONDO:0012843 epilepsy, childhood absence, susceptibility to, 5 skos:exactMatch MEDGEN:393654 semapv:UnspecifiedMatching MONDO:0012843 epilepsy, childhood absence, susceptibility to, 5 skos:exactMatch OMIM:612269 epilepsy, childhood absence, susceptibility to, 5 semapv:UnspecifiedMatching MONDO:0012843 epilepsy, childhood absence, susceptibility to, 5 skos:exactMatch UMLS:C2677087 semapv:UnspecifiedMatching MONDO:0012844 primary ciliary dyskinesia 8 skos:exactMatch DOID:0110616 primary ciliary dyskinesia 8 semapv:UnspecifiedMatching MONDO:0012844 primary ciliary dyskinesia 8 skos:exactMatch MEDGEN:393653 semapv:UnspecifiedMatching MONDO:0012844 primary ciliary dyskinesia 8 skos:exactMatch OMIM:612274 ciliary dyskinesia, primary, 8 semapv:UnspecifiedMatching MONDO:0012844 primary ciliary dyskinesia 8 skos:exactMatch UMLS:C2677085 semapv:UnspecifiedMatching MONDO:0012844 primary ciliary dyskinesia 8 skos:exactMatch mesh:C567373 semapv:UnspecifiedMatching MONDO:0012845 inflammatory bowel disease 19 skos:exactMatch DOID:0110890 inflammatory bowel disease 19 semapv:UnspecifiedMatching MONDO:0012845 inflammatory bowel disease 19 skos:exactMatch MEDGEN:393652 semapv:UnspecifiedMatching MONDO:0012845 inflammatory bowel disease 19 skos:exactMatch OMIM:612278 inflammatory bowel disease (crohn disease) 19 semapv:UnspecifiedMatching MONDO:0012845 inflammatory bowel disease 19 skos:exactMatch UMLS:C2677079 semapv:UnspecifiedMatching MONDO:0012845 inflammatory bowel disease 19 skos:exactMatch mesh:C567372 semapv:UnspecifiedMatching MONDO:0012846 generalized epilepsy with febrile seizures plus, type 6 skos:exactMatch DOID:0111300 generalized epilepsy with febrile seizures plus 6 semapv:UnspecifiedMatching MONDO:0012846 generalized epilepsy with febrile seizures plus, type 6 skos:exactMatch MEDGEN:394198 semapv:UnspecifiedMatching MONDO:0012846 generalized epilepsy with febrile seizures plus, type 6 skos:exactMatch OMIM:612279 generalized epilepsy with febrile seizures plus, type 6 semapv:UnspecifiedMatching MONDO:0012846 generalized epilepsy with febrile seizures plus, type 6 skos:exactMatch UMLS:C2677078 semapv:UnspecifiedMatching MONDO:0012846 generalized epilepsy with febrile seizures plus, type 6 skos:exactMatch mesh:C567371 semapv:UnspecifiedMatching MONDO:0012847 autosomal recessive congenital ichthyosis 6 skos:exactMatch DOID:0060715 autosomal recessive congenital ichthyosis 6 semapv:UnspecifiedMatching MONDO:0012847 autosomal recessive congenital ichthyosis 6 skos:exactMatch MEDGEN:436851 semapv:UnspecifiedMatching MONDO:0012847 autosomal recessive congenital ichthyosis 6 skos:exactMatch OMIM:612281 ichthyosis, congenital, autosomal recessive 6 semapv:UnspecifiedMatching MONDO:0012847 autosomal recessive congenital ichthyosis 6 skos:exactMatch UMLS:C2677065 semapv:UnspecifiedMatching MONDO:0012848 Meckel syndrome, type 6 skos:exactMatch DOID:0070120 Meckel syndrome 6 semapv:UnspecifiedMatching MONDO:0012848 Meckel syndrome, type 6 skos:exactMatch MEDGEN:382942 semapv:UnspecifiedMatching MONDO:0012848 Meckel syndrome, type 6 skos:exactMatch OMIM:612284 meckel syndrome, type 6 semapv:UnspecifiedMatching MONDO:0012848 Meckel syndrome, type 6 skos:exactMatch UMLS:C2676790 semapv:UnspecifiedMatching MONDO:0012848 Meckel syndrome, type 6 skos:exactMatch mesh:C567365 semapv:UnspecifiedMatching MONDO:0012849 Joubert syndrome 9 skos:exactMatch DOID:0111004 Joubert syndrome 9 semapv:UnspecifiedMatching MONDO:0012849 Joubert syndrome 9 skos:exactMatch MEDGEN:382940 semapv:UnspecifiedMatching MONDO:0012849 Joubert syndrome 9 skos:exactMatch NCIT:C181002 Joubert Syndrome 9 semapv:UnspecifiedMatching MONDO:0012849 Joubert syndrome 9 skos:exactMatch OMIM:612285 joubert syndrome 9 semapv:UnspecifiedMatching MONDO:0012849 Joubert syndrome 9 skos:exactMatch UMLS:C2676788 semapv:UnspecifiedMatching MONDO:0012849 Joubert syndrome 9 skos:exactMatch mesh:C567364 semapv:UnspecifiedMatching MONDO:0012850 hypophosphatemic nephrolithiasis/osteoporosis 1 skos:exactMatch DOID:0080077 hypophosphatemic nephrolithiasis/osteoporosis 1 semapv:UnspecifiedMatching MONDO:0012850 hypophosphatemic nephrolithiasis/osteoporosis 1 skos:exactMatch MEDGEN:436776 semapv:UnspecifiedMatching MONDO:0012850 hypophosphatemic nephrolithiasis/osteoporosis 1 skos:exactMatch OMIM:612286 nephrolithiasis/osteoporosis, hypophosphatemic, 1 semapv:UnspecifiedMatching MONDO:0012850 hypophosphatemic nephrolithiasis/osteoporosis 1 skos:exactMatch UMLS:C2676786 semapv:UnspecifiedMatching MONDO:0012850 hypophosphatemic nephrolithiasis/osteoporosis 1 skos:exactMatch mesh:C567363 semapv:UnspecifiedMatching MONDO:0012851 hypophosphatemic nephrolithiasis/osteoporosis 2 skos:exactMatch DOID:0080078 hypophosphatemic nephrolithiasis/osteoporosis 2 semapv:UnspecifiedMatching MONDO:0012851 hypophosphatemic nephrolithiasis/osteoporosis 2 skos:exactMatch MEDGEN:394127 semapv:UnspecifiedMatching MONDO:0012851 hypophosphatemic nephrolithiasis/osteoporosis 2 skos:exactMatch OMIM:612287 nephrolithiasis/osteoporosis, hypophosphatemic, 2 semapv:UnspecifiedMatching MONDO:0012851 hypophosphatemic nephrolithiasis/osteoporosis 2 skos:exactMatch UMLS:C2676782 semapv:UnspecifiedMatching MONDO:0012851 hypophosphatemic nephrolithiasis/osteoporosis 2 skos:exactMatch mesh:C567362 semapv:UnspecifiedMatching MONDO:0012852 inflammatory bowel disease 20 skos:exactMatch DOID:0110898 inflammatory bowel disease 20 semapv:UnspecifiedMatching MONDO:0012852 inflammatory bowel disease 20 skos:exactMatch MEDGEN:394126 semapv:UnspecifiedMatching MONDO:0012852 inflammatory bowel disease 20 skos:exactMatch OMIM:612288 inflammatory bowel disease 20 semapv:UnspecifiedMatching MONDO:0012852 inflammatory bowel disease 20 skos:exactMatch UMLS:C2676781 semapv:UnspecifiedMatching MONDO:0012852 inflammatory bowel disease 20 skos:exactMatch mesh:C567361 semapv:UnspecifiedMatching MONDO:0012853 Fontaine progeroid syndrome skos:exactMatch MEDGEN:394125 semapv:UnspecifiedMatching MONDO:0012853 Fontaine progeroid syndrome skos:exactMatch OMIM:612289 fontaine progeroid syndrome semapv:UnspecifiedMatching MONDO:0012853 Fontaine progeroid syndrome skos:exactMatch Orphanet:2095 Gorlin-Chaudhry-Moss syndrome semapv:UnspecifiedMatching MONDO:0012853 Fontaine progeroid syndrome skos:exactMatch Orphanet:2963 Progeroid syndrome, Petty type semapv:UnspecifiedMatching MONDO:0012853 Fontaine progeroid syndrome skos:exactMatch Orphanet:697101 Fontaine progeroid syndrome semapv:UnspecifiedMatching MONDO:0012853 Fontaine progeroid syndrome skos:exactMatch SCTID:205800003 semapv:UnspecifiedMatching MONDO:0012853 Fontaine progeroid syndrome skos:exactMatch UMLS:C2676780 semapv:UnspecifiedMatching MONDO:0012853 Fontaine progeroid syndrome skos:exactMatch mesh:C537290 semapv:UnspecifiedMatching MONDO:0012854 bilateral microtia-deafness-cleft palate syndrome skos:exactMatch MEDGEN:382936 semapv:UnspecifiedMatching MONDO:0012854 bilateral microtia-deafness-cleft palate syndrome skos:exactMatch OMIM:612290 microtia, hearing impairment, and cleft palate semapv:UnspecifiedMatching MONDO:0012854 bilateral microtia-deafness-cleft palate syndrome skos:exactMatch Orphanet:140963 Bilateral microtia-deafness-cleft palate syndrome semapv:UnspecifiedMatching MONDO:0012854 bilateral microtia-deafness-cleft palate syndrome skos:exactMatch UMLS:C2676772 semapv:UnspecifiedMatching MONDO:0012854 bilateral microtia-deafness-cleft palate syndrome skos:exactMatch mesh:C567359 semapv:UnspecifiedMatching MONDO:0012855 Joubert syndrome 8 skos:exactMatch DOID:0111003 Joubert syndrome 8 semapv:UnspecifiedMatching MONDO:0012855 Joubert syndrome 8 skos:exactMatch MEDGEN:436772 semapv:UnspecifiedMatching MONDO:0012855 Joubert syndrome 8 skos:exactMatch OMIM:612291 joubert syndrome 8 semapv:UnspecifiedMatching MONDO:0012855 Joubert syndrome 8 skos:exactMatch UMLS:C2676771 semapv:UnspecifiedMatching MONDO:0012855 Joubert syndrome 8 skos:exactMatch mesh:C567358 semapv:UnspecifiedMatching MONDO:0012856 Birk-Barel syndrome skos:exactMatch DOID:0050675 Birk-Barel syndrome semapv:UnspecifiedMatching MONDO:0012856 Birk-Barel syndrome skos:exactMatch MEDGEN:393583 semapv:UnspecifiedMatching MONDO:0012856 Birk-Barel syndrome skos:exactMatch OMIM:612292 birk-barel syndrome semapv:UnspecifiedMatching MONDO:0012856 Birk-Barel syndrome skos:exactMatch Orphanet:166108 Birk-Barel syndrome semapv:UnspecifiedMatching MONDO:0012856 Birk-Barel syndrome skos:exactMatch SCTID:764861005 semapv:UnspecifiedMatching MONDO:0012856 Birk-Barel syndrome skos:exactMatch UMLS:C2676770 semapv:UnspecifiedMatching MONDO:0012856 Birk-Barel syndrome skos:exactMatch mesh:C567357 semapv:UnspecifiedMatching MONDO:0012857 porokeratosis 5, disseminated superficial actinic type skos:exactMatch MEDGEN:382935 semapv:UnspecifiedMatching MONDO:0012857 porokeratosis 5, disseminated superficial actinic type skos:exactMatch OMIM:612293 porokeratosis 5, disseminated superficial actinic type semapv:UnspecifiedMatching MONDO:0012857 porokeratosis 5, disseminated superficial actinic type skos:exactMatch UMLS:C2676769 semapv:UnspecifiedMatching MONDO:0012857 porokeratosis 5, disseminated superficial actinic type skos:exactMatch mesh:C567356 semapv:UnspecifiedMatching MONDO:0012858 primary CD59 deficiency skos:exactMatch MEDGEN:393582 semapv:UnspecifiedMatching MONDO:0012858 primary CD59 deficiency skos:exactMatch OMIM:612300 hemolytic anemia, cd59-mediated, with or without immune-mediated polyneuropathy semapv:UnspecifiedMatching MONDO:0012858 primary CD59 deficiency skos:exactMatch Orphanet:169464 Primary CD59 deficiency semapv:UnspecifiedMatching MONDO:0012858 primary CD59 deficiency skos:exactMatch UMLS:C2676767 semapv:UnspecifiedMatching MONDO:0012858 primary CD59 deficiency skos:exactMatch mesh:C567355 semapv:UnspecifiedMatching MONDO:0012859 autosomal recessive osteopetrosis 7 skos:exactMatch DOID:0110946 autosomal recessive osteopetrosis 7 semapv:UnspecifiedMatching MONDO:0012859 autosomal recessive osteopetrosis 7 skos:exactMatch MEDGEN:436770 semapv:UnspecifiedMatching MONDO:0012859 autosomal recessive osteopetrosis 7 skos:exactMatch OMIM:612301 osteopetrosis, autosomal recessive 7 semapv:UnspecifiedMatching MONDO:0012859 autosomal recessive osteopetrosis 7 skos:exactMatch Orphanet:178389 Osteopetrosis-hypogammaglobulinemia syndrome semapv:UnspecifiedMatching MONDO:0012859 autosomal recessive osteopetrosis 7 skos:exactMatch UMLS:C2676766 semapv:UnspecifiedMatching MONDO:0012859 autosomal recessive osteopetrosis 7 skos:exactMatch mesh:C567354 semapv:UnspecifiedMatching MONDO:0012860 thrombophilia due to protein C deficiency, autosomal recessive skos:exactMatch DOID:0111904 autosomal recessive thrombophilia due to protein C deficiency semapv:UnspecifiedMatching MONDO:0012860 thrombophilia due to protein C deficiency, autosomal recessive skos:exactMatch MEDGEN:394120 semapv:UnspecifiedMatching MONDO:0012860 thrombophilia due to protein C deficiency, autosomal recessive skos:exactMatch OMIM:612304 thrombophilia due to protein c deficiency, autosomal recessive semapv:UnspecifiedMatching MONDO:0012860 thrombophilia due to protein C deficiency, autosomal recessive skos:exactMatch UMLS:C2676759 semapv:UnspecifiedMatching MONDO:0012860 thrombophilia due to protein C deficiency, autosomal recessive skos:exactMatch mesh:C567353 semapv:UnspecifiedMatching MONDO:0012861 premature ovarian failure 6 skos:exactMatch DOID:0080863 primary ovarian insufficiency 6 semapv:UnspecifiedMatching MONDO:0012861 premature ovarian failure 6 skos:exactMatch MEDGEN:394115 semapv:UnspecifiedMatching MONDO:0012861 premature ovarian failure 6 skos:exactMatch OMIM:612310 premature ovarian failure 6 semapv:UnspecifiedMatching MONDO:0012861 premature ovarian failure 6 skos:exactMatch UMLS:C2676742 semapv:UnspecifiedMatching MONDO:0012861 premature ovarian failure 6 skos:exactMatch mesh:C567351 semapv:UnspecifiedMatching MONDO:0012862 attention deficit-hyperactivity disorder, susceptibility to, 5 skos:exactMatch MEDGEN:394114 semapv:UnspecifiedMatching MONDO:0012862 attention deficit-hyperactivity disorder, susceptibility to, 5 skos:exactMatch OMIM:612311 attention deficit-hyperactivity disorder, susceptibility to, 5 semapv:UnspecifiedMatching MONDO:0012862 attention deficit-hyperactivity disorder, susceptibility to, 5 skos:exactMatch UMLS:C2676741 semapv:UnspecifiedMatching MONDO:0012863 attention deficit-hyperactivity disorder, susceptibility to, 6 skos:exactMatch MEDGEN:393577 semapv:UnspecifiedMatching MONDO:0012863 attention deficit-hyperactivity disorder, susceptibility to, 6 skos:exactMatch OMIM:612312 attention deficit-hyperactivity disorder, susceptibility to, 6 semapv:UnspecifiedMatching MONDO:0012863 attention deficit-hyperactivity disorder, susceptibility to, 6 skos:exactMatch UMLS:C2676740 semapv:UnspecifiedMatching MONDO:0012864 chromosome 2q32-q33 deletion syndrome skos:exactMatch DOID:0060428 SATB2-associated syndrome semapv:UnspecifiedMatching MONDO:0012864 chromosome 2q32-q33 deletion syndrome skos:exactMatch MEDGEN:436765 semapv:UnspecifiedMatching MONDO:0012864 chromosome 2q32-q33 deletion syndrome skos:exactMatch OMIM:612313 GLASS syndrome semapv:UnspecifiedMatching MONDO:0012864 chromosome 2q32-q33 deletion syndrome skos:exactMatch Orphanet:251019 2q32q33 deletion syndrome semapv:UnspecifiedMatching MONDO:0012864 chromosome 2q32-q33 deletion syndrome skos:exactMatch Orphanet:576283 SATB2-associated syndrome due to a pathogenic variant semapv:UnspecifiedMatching MONDO:0012864 chromosome 2q32-q33 deletion syndrome skos:exactMatch SCTID:719659003 semapv:UnspecifiedMatching MONDO:0012864 chromosome 2q32-q33 deletion syndrome skos:exactMatch UMLS:C2676739 semapv:UnspecifiedMatching MONDO:0012864 chromosome 2q32-q33 deletion syndrome skos:exactMatch mesh:C567350 semapv:UnspecifiedMatching MONDO:0012865 Pseudofolliculitis barbae skos:exactMatch ICD10CM:L73.1 Pseudofolliculitis barbae semapv:UnspecifiedMatching MONDO:0012865 Pseudofolliculitis barbae skos:exactMatch MEDGEN:107807 semapv:UnspecifiedMatching MONDO:0012865 Pseudofolliculitis barbae skos:exactMatch OMIM:612318 pseudofolliculitis barbae semapv:UnspecifiedMatching MONDO:0012865 Pseudofolliculitis barbae skos:exactMatch UMLS:C0549150 semapv:UnspecifiedMatching MONDO:0012865 Pseudofolliculitis barbae skos:exactMatch icd11.foundation:336055701 Pseudofolliculitis barbae semapv:UnspecifiedMatching MONDO:0012865 Pseudofolliculitis barbae skos:exactMatch mesh:C563016 semapv:UnspecifiedMatching MONDO:0012866 hereditary spastic paraplegia 35 skos:exactMatch DOID:0110786 hereditary spastic paraplegia 35 semapv:UnspecifiedMatching MONDO:0012866 hereditary spastic paraplegia 35 skos:exactMatch MEDGEN:501249 semapv:UnspecifiedMatching MONDO:0012866 hereditary spastic paraplegia 35 skos:exactMatch OMIM:612319 spastic paraplegia 35, autosomal recessive, with or without neurodegeneration semapv:UnspecifiedMatching MONDO:0012866 hereditary spastic paraplegia 35 skos:exactMatch Orphanet:171629 Autosomal recessive spastic paraplegia type 35 semapv:UnspecifiedMatching MONDO:0012866 hereditary spastic paraplegia 35 skos:exactMatch SCTID:764688002 semapv:UnspecifiedMatching MONDO:0012866 hereditary spastic paraplegia 35 skos:exactMatch UMLS:C3496228 semapv:UnspecifiedMatching MONDO:0012866 hereditary spastic paraplegia 35 skos:exactMatch mesh:C567311 semapv:UnspecifiedMatching MONDO:0012867 hereditary spastic paraplegia 38 skos:exactMatch DOID:0110789 hereditary spastic paraplegia 38 semapv:UnspecifiedMatching MONDO:0012867 hereditary spastic paraplegia 38 skos:exactMatch MEDGEN:436764 semapv:UnspecifiedMatching MONDO:0012867 hereditary spastic paraplegia 38 skos:exactMatch OMIM:612335 spastic paraplegia 38, autosomal dominant semapv:UnspecifiedMatching MONDO:0012867 hereditary spastic paraplegia 38 skos:exactMatch Orphanet:171617 Autosomal dominant spastic paraplegia type 38 semapv:UnspecifiedMatching MONDO:0012867 hereditary spastic paraplegia 38 skos:exactMatch UMLS:C2676732 semapv:UnspecifiedMatching MONDO:0012867 hereditary spastic paraplegia 38 skos:exactMatch mesh:C567349 semapv:UnspecifiedMatching MONDO:0012868 thrombophilia due to protein S deficiency, autosomal dominant skos:exactMatch DOID:0111900 autosomal dominant thrombophilia due to protein S deficiency semapv:UnspecifiedMatching MONDO:0012868 thrombophilia due to protein S deficiency, autosomal dominant skos:exactMatch MEDGEN:479841 semapv:UnspecifiedMatching MONDO:0012868 thrombophilia due to protein S deficiency, autosomal dominant skos:exactMatch OMIM:612336 thrombophilia due to protein s deficiency, autosomal dominant semapv:UnspecifiedMatching MONDO:0012868 thrombophilia due to protein S deficiency, autosomal dominant skos:exactMatch Orphanet:26349 Protein S acquired deficiency semapv:UnspecifiedMatching MONDO:0012868 thrombophilia due to protein S deficiency, autosomal dominant skos:exactMatch UMLS:C3278211 semapv:UnspecifiedMatching MONDO:0012868 thrombophilia due to protein S deficiency, autosomal dominant skos:exactMatch mesh:C567077 semapv:UnspecifiedMatching MONDO:0012869 intellectual disability, autosomal dominant 22 skos:exactMatch DOID:0070052 autosomal dominant intellectual developmental disorder 22 semapv:UnspecifiedMatching MONDO:0012869 intellectual disability, autosomal dominant 22 skos:exactMatch OMIM:612337 intellectual developmental disorder, autosomal dominant 22 semapv:UnspecifiedMatching MONDO:0012869 intellectual disability, autosomal dominant 22 skos:exactMatch mesh:C567346 semapv:UnspecifiedMatching MONDO:0012870 chromosome 2q31.2 deletion syndrome skos:exactMatch DOID:0060416 chromosome 2q31.2 deletion syndrome semapv:UnspecifiedMatching MONDO:0012870 chromosome 2q31.2 deletion syndrome skos:exactMatch MEDGEN:394109 semapv:UnspecifiedMatching MONDO:0012870 chromosome 2q31.2 deletion syndrome skos:exactMatch OMIM:612345 chromosome 2q31.2 deletion syndrome semapv:UnspecifiedMatching MONDO:0012870 chromosome 2q31.2 deletion syndrome skos:exactMatch UMLS:C2676724 semapv:UnspecifiedMatching MONDO:0012870 chromosome 2q31.2 deletion syndrome skos:exactMatch mesh:C567344 semapv:UnspecifiedMatching MONDO:0012871 Jervell and Lange-Nielsen syndrome 2 skos:exactMatch MEDGEN:394108 semapv:UnspecifiedMatching MONDO:0012871 Jervell and Lange-Nielsen syndrome 2 skos:exactMatch OMIM:612347 jervell and lange-nielsen syndrome 2 semapv:UnspecifiedMatching MONDO:0012871 Jervell and Lange-Nielsen syndrome 2 skos:exactMatch UMLS:C2676723 semapv:UnspecifiedMatching MONDO:0012871 Jervell and Lange-Nielsen syndrome 2 skos:exactMatch mesh:C567343 semapv:UnspecifiedMatching MONDO:0012872 thrombophilia, familial, due to decreased release of tissue plasminogen activator skos:exactMatch DOID:0111906 thrombophilia due to decreased release of PLAT semapv:UnspecifiedMatching MONDO:0012872 thrombophilia, familial, due to decreased release of tissue plasminogen activator skos:exactMatch MEDGEN:393574 semapv:UnspecifiedMatching MONDO:0012872 thrombophilia, familial, due to decreased release of tissue plasminogen activator skos:exactMatch OMIM:612348 thrombophilia, familial, due to decreased release of tissue plasminogen activator semapv:UnspecifiedMatching MONDO:0012872 thrombophilia, familial, due to decreased release of tissue plasminogen activator skos:exactMatch UMLS:C2676721 semapv:UnspecifiedMatching MONDO:0012872 thrombophilia, familial, due to decreased release of tissue plasminogen activator skos:exactMatch mesh:C567341 semapv:UnspecifiedMatching MONDO:0012873 Ehlers-Danlos syndrome, spondylocheirodysplastic type skos:exactMatch DOID:0080739 Ehlers-Danlos syndrome spondylodysplastic type 3 semapv:UnspecifiedMatching MONDO:0012873 Ehlers-Danlos syndrome, spondylocheirodysplastic type skos:exactMatch MEDGEN:393515 semapv:UnspecifiedMatching MONDO:0012873 Ehlers-Danlos syndrome, spondylocheirodysplastic type skos:exactMatch OMIM:612350 ehlers-danlos syndrome, spondylodysplastic type, 3 semapv:UnspecifiedMatching MONDO:0012873 Ehlers-Danlos syndrome, spondylocheirodysplastic type skos:exactMatch Orphanet:157965 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome semapv:UnspecifiedMatching MONDO:0012873 Ehlers-Danlos syndrome, spondylocheirodysplastic type skos:exactMatch UMLS:C2676510 semapv:UnspecifiedMatching MONDO:0012873 Ehlers-Danlos syndrome, spondylocheirodysplastic type skos:exactMatch icd11.foundation:1653521697 Ehlers-Danlos syndrome, spondylocheirodysplastic type semapv:UnspecifiedMatching MONDO:0012873 Ehlers-Danlos syndrome, spondylocheirodysplastic type skos:exactMatch mesh:C567340 semapv:UnspecifiedMatching MONDO:0012874 porokeratosis 6, disseminated superficial actinic type skos:exactMatch MEDGEN:394063 semapv:UnspecifiedMatching MONDO:0012874 porokeratosis 6, disseminated superficial actinic type skos:exactMatch OMIM:612353 porokeratosis 6, multiple types semapv:UnspecifiedMatching MONDO:0012874 porokeratosis 6, disseminated superficial actinic type skos:exactMatch UMLS:C2676508 semapv:UnspecifiedMatching MONDO:0012874 porokeratosis 6, disseminated superficial actinic type skos:exactMatch mesh:C567339 semapv:UnspecifiedMatching MONDO:0012875 inflammatory bowel disease 21 skos:exactMatch DOID:0110906 inflammatory bowel disease 21 semapv:UnspecifiedMatching MONDO:0012875 inflammatory bowel disease 21 skos:exactMatch MEDGEN:436705 semapv:UnspecifiedMatching MONDO:0012875 inflammatory bowel disease 21 skos:exactMatch OMIM:612354 inflammatory bowel disease 21 semapv:UnspecifiedMatching MONDO:0012875 inflammatory bowel disease 21 skos:exactMatch UMLS:C2676507 semapv:UnspecifiedMatching MONDO:0012875 inflammatory bowel disease 21 skos:exactMatch mesh:C567338 semapv:UnspecifiedMatching MONDO:0012876 heparin cofactor 2 deficiency skos:exactMatch DOID:0111901 heparin cofactor II deficiency semapv:UnspecifiedMatching MONDO:0012876 heparin cofactor 2 deficiency skos:exactMatch MEDGEN:96017 semapv:UnspecifiedMatching MONDO:0012876 heparin cofactor 2 deficiency skos:exactMatch OMIM:612356 heparin cofactor 2 deficiency semapv:UnspecifiedMatching MONDO:0012876 heparin cofactor 2 deficiency skos:exactMatch SCTID:234468009 semapv:UnspecifiedMatching MONDO:0012876 heparin cofactor 2 deficiency skos:exactMatch UMLS:C0398626 semapv:UnspecifiedMatching MONDO:0012876 heparin cofactor 2 deficiency skos:exactMatch mesh:C562865 semapv:UnspecifiedMatching MONDO:0012877 major affective disorder 8 skos:exactMatch MEDGEN:397794 semapv:UnspecifiedMatching MONDO:0012877 major affective disorder 8 skos:exactMatch OMIM:612357 major affective disorder 8 semapv:UnspecifiedMatching MONDO:0012877 major affective disorder 8 skos:exactMatch UMLS:C2700439 semapv:UnspecifiedMatching MONDO:0012877 major affective disorder 8 skos:exactMatch mesh:C567530 semapv:UnspecifiedMatching MONDO:0012878 Cowden syndrome 2 skos:exactMatch mesh:C567337 semapv:UnspecifiedMatching MONDO:0012879 schizophrenia 14 skos:exactMatch DOID:0070090 schizophrenia 14 semapv:UnspecifiedMatching MONDO:0012879 schizophrenia 14 skos:exactMatch MEDGEN:436991 semapv:UnspecifiedMatching MONDO:0012879 schizophrenia 14 skos:exactMatch OMIM:612361 schizophrenia 14 semapv:UnspecifiedMatching MONDO:0012879 schizophrenia 14 skos:exactMatch UMLS:C2677614 semapv:UnspecifiedMatching MONDO:0012880 hypogonadotropic hypogonadism 5 with or without anosmia skos:exactMatch DOID:0090084 hypogonadotropic hypogonadism 5 with or without anosmia semapv:UnspecifiedMatching MONDO:0012880 hypogonadotropic hypogonadism 5 with or without anosmia skos:exactMatch MEDGEN:765467 semapv:UnspecifiedMatching MONDO:0012880 hypogonadotropic hypogonadism 5 with or without anosmia skos:exactMatch OMIM:612370 hypogonadotropic hypogonadism 5 with or without anosmia semapv:UnspecifiedMatching MONDO:0012880 hypogonadotropic hypogonadism 5 with or without anosmia skos:exactMatch UMLS:C3552553 semapv:UnspecifiedMatching MONDO:0012880 hypogonadotropic hypogonadism 5 with or without anosmia skos:exactMatch mesh:C567220 semapv:UnspecifiedMatching MONDO:0012881 major affective disorder 7 skos:exactMatch MEDGEN:438008 semapv:UnspecifiedMatching MONDO:0012881 major affective disorder 7 skos:exactMatch OMIM:612371 major affective disorder 7 semapv:UnspecifiedMatching MONDO:0012881 major affective disorder 7 skos:exactMatch UMLS:C2700438 semapv:UnspecifiedMatching MONDO:0012881 major affective disorder 7 skos:exactMatch mesh:C567529 semapv:UnspecifiedMatching MONDO:0012882 major affective disorder 9 skos:exactMatch MEDGEN:398108 semapv:UnspecifiedMatching MONDO:0012882 major affective disorder 9 skos:exactMatch OMIM:612372 major affective disorder 9 semapv:UnspecifiedMatching MONDO:0012882 major affective disorder 9 skos:exactMatch UMLS:C2700440 semapv:UnspecifiedMatching MONDO:0012882 major affective disorder 9 skos:exactMatch mesh:C567531 semapv:UnspecifiedMatching MONDO:0012883 acute promyelocytic leukemia skos:exactMatch DOID:0060318 acute promyelocytic leukemia semapv:UnspecifiedMatching MONDO:0012883 acute promyelocytic leukemia skos:exactMatch DOID:0081081 acute promyelocytic leukemia with PML-RARA semapv:UnspecifiedMatching MONDO:0012883 acute promyelocytic leukemia skos:exactMatch EFO:0000224 semapv:UnspecifiedMatching MONDO:0012883 acute promyelocytic leukemia skos:exactMatch ICD10CM:C92.4 Acute promyelocytic leukemia semapv:UnspecifiedMatching MONDO:0012883 acute promyelocytic leukemia skos:exactMatch MEDGEN:44127 semapv:UnspecifiedMatching MONDO:0012883 acute promyelocytic leukemia skos:exactMatch NCIT:C3182 Acute Promyelocytic Leukemia with t(15;17)(q24.1;q21.2); PML-RARA semapv:UnspecifiedMatching MONDO:0012883 acute promyelocytic leukemia skos:exactMatch OMIM:612376 acute promyelocytic leukemia semapv:UnspecifiedMatching MONDO:0012883 acute promyelocytic leukemia skos:exactMatch Orphanet:520 Acute promyelocytic leukemia semapv:UnspecifiedMatching MONDO:0012883 acute promyelocytic leukemia skos:exactMatch SCTID:110004001 semapv:UnspecifiedMatching MONDO:0012883 acute promyelocytic leukemia skos:exactMatch UMLS:C0023487 semapv:UnspecifiedMatching MONDO:0012883 acute promyelocytic leukemia skos:exactMatch mesh:D015473 semapv:UnspecifiedMatching MONDO:0012884 systemic lupus erythematosus, susceptibility to, 13 skos:exactMatch MEDGEN:382864 semapv:UnspecifiedMatching MONDO:0012884 systemic lupus erythematosus, susceptibility to, 13 skos:exactMatch OMIM:612378 systemic lupus erythematosus, susceptibility to, 13 semapv:UnspecifiedMatching MONDO:0012884 systemic lupus erythematosus, susceptibility to, 13 skos:exactMatch UMLS:C2676487 semapv:UnspecifiedMatching MONDO:0012885 SRD5A3-congenital disorder of glycosylation skos:exactMatch DOID:0080568 congenital disorder of glycosylation Iq semapv:UnspecifiedMatching MONDO:0012885 SRD5A3-congenital disorder of glycosylation skos:exactMatch MEDGEN:1392124 semapv:UnspecifiedMatching MONDO:0012885 SRD5A3-congenital disorder of glycosylation skos:exactMatch OMIM:612379 congenital disorder of glycosylation, type iq semapv:UnspecifiedMatching MONDO:0012885 SRD5A3-congenital disorder of glycosylation skos:exactMatch Orphanet:324737 SRD5A3-CDG semapv:UnspecifiedMatching MONDO:0012885 SRD5A3-congenital disorder of glycosylation skos:exactMatch SCTID:733601006 semapv:UnspecifiedMatching MONDO:0012885 SRD5A3-congenital disorder of glycosylation skos:exactMatch UMLS:C4317224 semapv:UnspecifiedMatching MONDO:0012886 inflammatory bowel disease 22 skos:exactMatch DOID:0110905 inflammatory bowel disease 22 semapv:UnspecifiedMatching MONDO:0012886 inflammatory bowel disease 22 skos:exactMatch MEDGEN:382862 semapv:UnspecifiedMatching MONDO:0012886 inflammatory bowel disease 22 skos:exactMatch OMIM:612380 inflammatory bowel disease 22 semapv:UnspecifiedMatching MONDO:0012886 inflammatory bowel disease 22 skos:exactMatch UMLS:C2676485 semapv:UnspecifiedMatching MONDO:0012886 inflammatory bowel disease 22 skos:exactMatch mesh:C567327 semapv:UnspecifiedMatching MONDO:0012887 inflammatory bowel disease 23 skos:exactMatch DOID:0110884 inflammatory bowel disease 23 semapv:UnspecifiedMatching MONDO:0012887 inflammatory bowel disease 23 skos:exactMatch MEDGEN:382861 semapv:UnspecifiedMatching MONDO:0012887 inflammatory bowel disease 23 skos:exactMatch OMIM:612381 inflammatory bowel disease 23 semapv:UnspecifiedMatching MONDO:0012887 inflammatory bowel disease 23 skos:exactMatch UMLS:C2676484 semapv:UnspecifiedMatching MONDO:0012887 inflammatory bowel disease 23 skos:exactMatch mesh:C567326 semapv:UnspecifiedMatching MONDO:0012888 sarcoidosis, susceptibility to, 2 skos:exactMatch MEDGEN:436694 semapv:UnspecifiedMatching MONDO:0012888 sarcoidosis, susceptibility to, 2 skos:exactMatch OMIM:612387 sarcoidosis, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0012888 sarcoidosis, susceptibility to, 2 skos:exactMatch UMLS:C2676468 semapv:UnspecifiedMatching MONDO:0012889 sarcoidosis, susceptibility to, 3 skos:exactMatch MEDGEN:436693 semapv:UnspecifiedMatching MONDO:0012889 sarcoidosis, susceptibility to, 3 skos:exactMatch OMIM:612388 sarcoidosis, susceptibility to, 3 semapv:UnspecifiedMatching MONDO:0012889 sarcoidosis, susceptibility to, 3 skos:exactMatch UMLS:C2676467 semapv:UnspecifiedMatching MONDO:0012890 pontocerebellar hypoplasia type 2B skos:exactMatch DOID:0060268 pontocerebellar hypoplasia type 2B semapv:UnspecifiedMatching MONDO:0012890 pontocerebellar hypoplasia type 2B skos:exactMatch MEDGEN:393505 semapv:UnspecifiedMatching MONDO:0012890 pontocerebellar hypoplasia type 2B skos:exactMatch OMIM:612389 pontocerebellar hypoplasia, type 2b semapv:UnspecifiedMatching MONDO:0012890 pontocerebellar hypoplasia type 2B skos:exactMatch UMLS:C2676466 semapv:UnspecifiedMatching MONDO:0012890 pontocerebellar hypoplasia type 2B skos:exactMatch mesh:C567325 semapv:UnspecifiedMatching MONDO:0012891 pontocerebellar hypoplasia type 2C skos:exactMatch DOID:0060269 pontocerebellar hypoplasia type 2C semapv:UnspecifiedMatching MONDO:0012891 pontocerebellar hypoplasia type 2C skos:exactMatch MEDGEN:382856 semapv:UnspecifiedMatching MONDO:0012891 pontocerebellar hypoplasia type 2C skos:exactMatch OMIM:612390 pontocerebellar hypoplasia, type 2c semapv:UnspecifiedMatching MONDO:0012891 pontocerebellar hypoplasia type 2C skos:exactMatch UMLS:C2676465 semapv:UnspecifiedMatching MONDO:0012891 pontocerebellar hypoplasia type 2C skos:exactMatch mesh:C567324 semapv:UnspecifiedMatching MONDO:0012892 bone fragility with contractures, arterial rupture, and deafness skos:exactMatch DOID:0061197 BCARD syndrome semapv:UnspecifiedMatching MONDO:0012892 bone fragility with contractures, arterial rupture, and deafness skos:exactMatch MEDGEN:382811 semapv:UnspecifiedMatching MONDO:0012892 bone fragility with contractures, arterial rupture, and deafness skos:exactMatch OMIM:612394 BCARD syndrome semapv:UnspecifiedMatching MONDO:0012892 bone fragility with contractures, arterial rupture, and deafness skos:exactMatch Orphanet:300284 Connective tissue disorder due to lysyl hydroxylase-3 deficiency semapv:UnspecifiedMatching MONDO:0012892 bone fragility with contractures, arterial rupture, and deafness skos:exactMatch SCTID:763318007 semapv:UnspecifiedMatching MONDO:0012892 bone fragility with contractures, arterial rupture, and deafness skos:exactMatch UMLS:C2676285 semapv:UnspecifiedMatching MONDO:0012892 bone fragility with contractures, arterial rupture, and deafness skos:exactMatch mesh:C567320 semapv:UnspecifiedMatching MONDO:0012893 osteoarthritis susceptibility 5 skos:exactMatch MEDGEN:1674605 semapv:UnspecifiedMatching MONDO:0012893 osteoarthritis susceptibility 5 skos:exactMatch OMIM:612400 osteoarthritis susceptibility 5 semapv:UnspecifiedMatching MONDO:0012893 osteoarthritis susceptibility 5 skos:exactMatch SCTID:239872002 semapv:UnspecifiedMatching MONDO:0012893 osteoarthritis susceptibility 5 skos:exactMatch UMLS:C4759728 semapv:UnspecifiedMatching MONDO:0012894 osteoarthritis susceptibility 6 skos:exactMatch OMIM:612401 osteoarthritis susceptibility 6 semapv:UnspecifiedMatching MONDO:0012894 osteoarthritis susceptibility 6 skos:exactMatch SCTID:239873007 semapv:UnspecifiedMatching MONDO:0012895 torsion dystonia 17 skos:exactMatch DOID:0090042 torsion dystonia 17 semapv:UnspecifiedMatching MONDO:0012895 torsion dystonia 17 skos:exactMatch MEDGEN:391003 semapv:UnspecifiedMatching MONDO:0012895 torsion dystonia 17 skos:exactMatch OMIM:612406 dystonia 17, torsion, autosomal recessive semapv:UnspecifiedMatching MONDO:0012895 torsion dystonia 17 skos:exactMatch Orphanet:370103 Primary dystonia, DYT17 type semapv:UnspecifiedMatching MONDO:0012895 torsion dystonia 17 skos:exactMatch UMLS:C2676281 semapv:UnspecifiedMatching MONDO:0012895 torsion dystonia 17 skos:exactMatch mesh:C567319 semapv:UnspecifiedMatching MONDO:0012896 psoriasis 10, susceptibility to skos:exactMatch DOID:0111289 psoriasis 10 semapv:UnspecifiedMatching MONDO:0012896 psoriasis 10, susceptibility to skos:exactMatch MEDGEN:854730 semapv:UnspecifiedMatching MONDO:0012896 psoriasis 10, susceptibility to skos:exactMatch OMIM:612410 psoriasis 10, susceptibility to semapv:UnspecifiedMatching MONDO:0012896 psoriasis 10, susceptibility to skos:exactMatch UMLS:C3888028 semapv:UnspecifiedMatching MONDO:0012897 congenital factor XI deficiency skos:exactMatch DOID:2229 factor XI deficiency semapv:UnspecifiedMatching MONDO:0012897 congenital factor XI deficiency skos:exactMatch ICD10CM:D68.1 Hereditary factor XI deficiency semapv:UnspecifiedMatching MONDO:0012897 congenital factor XI deficiency skos:exactMatch MEDGEN:8770 semapv:UnspecifiedMatching MONDO:0012897 congenital factor XI deficiency skos:exactMatch NCIT:C84705 Hereditary Factor XI Deficiency semapv:UnspecifiedMatching MONDO:0012897 congenital factor XI deficiency skos:exactMatch OMIM:612416 factor 11 deficiency semapv:UnspecifiedMatching MONDO:0012897 congenital factor XI deficiency skos:exactMatch Orphanet:329 Congenital factor XI deficiency semapv:UnspecifiedMatching MONDO:0012897 congenital factor XI deficiency skos:exactMatch SCTID:49762007 semapv:UnspecifiedMatching MONDO:0012897 congenital factor XI deficiency skos:exactMatch UMLS:C0015523 semapv:UnspecifiedMatching MONDO:0012897 congenital factor XI deficiency skos:exactMatch icd11.foundation:413739466 Haemophilia C semapv:UnspecifiedMatching MONDO:0012898 narcolepsy 4, susceptibility to skos:exactMatch MEDGEN:391001 semapv:UnspecifiedMatching MONDO:0012898 narcolepsy 4, susceptibility to skos:exactMatch OMIM:612417 narcolepsy 4, susceptibility to semapv:UnspecifiedMatching MONDO:0012898 narcolepsy 4, susceptibility to skos:exactMatch UMLS:C2676275 semapv:UnspecifiedMatching MONDO:0012899 alopecia, androgenetic, 3 skos:exactMatch MEDGEN:382808 semapv:UnspecifiedMatching MONDO:0012899 alopecia, androgenetic, 3 skos:exactMatch OMIM:612421 alopecia, androgenetic, 3 semapv:UnspecifiedMatching MONDO:0012899 alopecia, androgenetic, 3 skos:exactMatch UMLS:C2676272 semapv:UnspecifiedMatching MONDO:0012899 alopecia, androgenetic, 3 skos:exactMatch mesh:C567317 semapv:UnspecifiedMatching MONDO:0012900 cardiomyopathy, familial restrictive, 3 skos:exactMatch DOID:0111427 familial restrictive cardiomyopathy 3 semapv:UnspecifiedMatching MONDO:0012900 cardiomyopathy, familial restrictive, 3 skos:exactMatch MEDGEN:382807 semapv:UnspecifiedMatching MONDO:0012900 cardiomyopathy, familial restrictive, 3 skos:exactMatch OMIM:612422 cardiomyopathy, familial restrictive, 3 semapv:UnspecifiedMatching MONDO:0012900 cardiomyopathy, familial restrictive, 3 skos:exactMatch UMLS:C2676271 semapv:UnspecifiedMatching MONDO:0012900 cardiomyopathy, familial restrictive, 3 skos:exactMatch mesh:C567316 semapv:UnspecifiedMatching MONDO:0012901 inherited prekallikrein deficiency skos:exactMatch OMIM:612423 prekallikrein deficiency semapv:UnspecifiedMatching MONDO:0012901 inherited prekallikrein deficiency skos:exactMatch Orphanet:749 Congenital prekallikrein deficiency semapv:UnspecifiedMatching MONDO:0012901 inherited prekallikrein deficiency skos:exactMatch mesh:C562725 semapv:UnspecifiedMatching MONDO:0012902 autosomal dominant nonsyndromic hearing loss 27 skos:exactMatch DOID:0110556 autosomal dominant nonsyndromic deafness 27 semapv:UnspecifiedMatching MONDO:0012902 autosomal dominant nonsyndromic hearing loss 27 skos:exactMatch MEDGEN:854637 semapv:UnspecifiedMatching MONDO:0012902 autosomal dominant nonsyndromic hearing loss 27 skos:exactMatch OMIM:612431 deafness, autosomal dominant 27 semapv:UnspecifiedMatching MONDO:0012902 autosomal dominant nonsyndromic hearing loss 27 skos:exactMatch UMLS:C3887929 semapv:UnspecifiedMatching MONDO:0012903 autosomal recessive nonsyndromic hearing loss 45 skos:exactMatch DOID:0110502 autosomal recessive nonsyndromic deafness 45 semapv:UnspecifiedMatching MONDO:0012903 autosomal recessive nonsyndromic hearing loss 45 skos:exactMatch MEDGEN:854732 semapv:UnspecifiedMatching MONDO:0012903 autosomal recessive nonsyndromic hearing loss 45 skos:exactMatch OMIM:612433 deafness, autosomal recessive 45 semapv:UnspecifiedMatching MONDO:0012903 autosomal recessive nonsyndromic hearing loss 45 skos:exactMatch UMLS:C3888030 semapv:UnspecifiedMatching MONDO:0012904 epilepsy, progressive myoclonic, 1B skos:exactMatch DOID:0111448 progressive myoclonus epilepsy 1B semapv:UnspecifiedMatching MONDO:0012904 epilepsy, progressive myoclonic, 1B skos:exactMatch MEDGEN:394003 semapv:UnspecifiedMatching MONDO:0012904 epilepsy, progressive myoclonic, 1B skos:exactMatch OMIM:612437 epilepsy, progressive myoclonic, 1b semapv:UnspecifiedMatching MONDO:0012904 epilepsy, progressive myoclonic, 1B skos:exactMatch SCTID:702326000 semapv:UnspecifiedMatching MONDO:0012904 epilepsy, progressive myoclonic, 1B skos:exactMatch UMLS:C2676254 semapv:UnspecifiedMatching MONDO:0012904 epilepsy, progressive myoclonic, 1B skos:exactMatch mesh:C580388 semapv:UnspecifiedMatching MONDO:0012905 hypomyelinating leukodystrophy 6 skos:exactMatch DOID:0060798 hypomyelinating leukodystrophy 6 semapv:UnspecifiedMatching MONDO:0012905 hypomyelinating leukodystrophy 6 skos:exactMatch MEDGEN:436642 semapv:UnspecifiedMatching MONDO:0012905 hypomyelinating leukodystrophy 6 skos:exactMatch OMIM:612438 leukodystrophy, hypomyelinating, 6 semapv:UnspecifiedMatching MONDO:0012905 hypomyelinating leukodystrophy 6 skos:exactMatch Orphanet:139441 Hypomyelination with atrophy of basal ganglia and cerebellum semapv:UnspecifiedMatching MONDO:0012905 hypomyelinating leukodystrophy 6 skos:exactMatch UMLS:C2676244 semapv:UnspecifiedMatching MONDO:0012905 hypomyelinating leukodystrophy 6 skos:exactMatch mesh:C567314 semapv:UnspecifiedMatching MONDO:0012906 primary ciliary dyskinesia 9 skos:exactMatch DOID:0110622 primary ciliary dyskinesia 9 semapv:UnspecifiedMatching MONDO:0012906 primary ciliary dyskinesia 9 skos:exactMatch MEDGEN:390990 semapv:UnspecifiedMatching MONDO:0012906 primary ciliary dyskinesia 9 skos:exactMatch OMIM:612444 ciliary dyskinesia, primary, 9 semapv:UnspecifiedMatching MONDO:0012906 primary ciliary dyskinesia 9 skos:exactMatch UMLS:C2676235 semapv:UnspecifiedMatching MONDO:0012906 primary ciliary dyskinesia 9 skos:exactMatch mesh:C567310 semapv:UnspecifiedMatching MONDO:0012907 blindness - scoliosis - arachnodactyly syndrome skos:exactMatch MEDGEN:436640 semapv:UnspecifiedMatching MONDO:0012907 blindness - scoliosis - arachnodactyly syndrome skos:exactMatch OMIM:612445 scoliosis, arachnodactyly, and blindness semapv:UnspecifiedMatching MONDO:0012907 blindness - scoliosis - arachnodactyly syndrome skos:exactMatch Orphanet:171844 Blindness-scoliosis-arachnodactyly syndrome semapv:UnspecifiedMatching MONDO:0012907 blindness - scoliosis - arachnodactyly syndrome skos:exactMatch SCTID:717920004 semapv:UnspecifiedMatching MONDO:0012907 blindness - scoliosis - arachnodactyly syndrome skos:exactMatch UMLS:C2676234 semapv:UnspecifiedMatching MONDO:0012907 blindness - scoliosis - arachnodactyly syndrome skos:exactMatch mesh:C567309 semapv:UnspecifiedMatching MONDO:0012908 complement component 6 deficiency skos:exactMatch DOID:0060299 complement component 6 deficiency semapv:UnspecifiedMatching MONDO:0012908 complement component 6 deficiency skos:exactMatch MEDGEN:436639 semapv:UnspecifiedMatching MONDO:0012908 complement component 6 deficiency skos:exactMatch OMIM:612446 complement component 6 deficiency semapv:UnspecifiedMatching MONDO:0012908 complement component 6 deficiency skos:exactMatch UMLS:C2676232 semapv:UnspecifiedMatching MONDO:0012909 skeletal defects, genital hypoplasia, and intellectual disability skos:exactMatch MEDGEN:382795 semapv:UnspecifiedMatching MONDO:0012909 skeletal defects, genital hypoplasia, and intellectual disability skos:exactMatch OMIM:612447 skeletal defects, genital hypoplasia, and impaired intellectual development semapv:UnspecifiedMatching MONDO:0012909 skeletal defects, genital hypoplasia, and intellectual disability skos:exactMatch UMLS:C2676231 semapv:UnspecifiedMatching MONDO:0012909 skeletal defects, genital hypoplasia, and intellectual disability skos:exactMatch mesh:C567306 semapv:UnspecifiedMatching MONDO:0012910 age-related hearing impairment 1 skos:exactMatch MEDGEN:382794 semapv:UnspecifiedMatching MONDO:0012910 age-related hearing impairment 1 skos:exactMatch OMIM:612448 age-related hearing impairment 1 semapv:UnspecifiedMatching MONDO:0012910 age-related hearing impairment 1 skos:exactMatch UMLS:C2676230 semapv:UnspecifiedMatching MONDO:0012910 age-related hearing impairment 1 skos:exactMatch mesh:C567305 semapv:UnspecifiedMatching MONDO:0012911 pseudohypoparathyroidism type 1C skos:exactMatch DOID:0051013 pseudohypoparathyroidism type 1C semapv:UnspecifiedMatching MONDO:0012911 pseudohypoparathyroidism type 1C skos:exactMatch MEDGEN:420958 semapv:UnspecifiedMatching MONDO:0012911 pseudohypoparathyroidism type 1C skos:exactMatch OMIM:612462 pseudohypoparathyroidism, type 1c semapv:UnspecifiedMatching MONDO:0012911 pseudohypoparathyroidism type 1C skos:exactMatch Orphanet:79444 Pseudohypoparathyroidism type 1C semapv:UnspecifiedMatching MONDO:0012911 pseudohypoparathyroidism type 1C skos:exactMatch SCTID:717792007 semapv:UnspecifiedMatching MONDO:0012911 pseudohypoparathyroidism type 1C skos:exactMatch UMLS:C2932716 semapv:UnspecifiedMatching MONDO:0012911 pseudohypoparathyroidism type 1C skos:exactMatch icd11.foundation:1401673748 Pseudohypoparathyroidism type 1C semapv:UnspecifiedMatching MONDO:0012911 pseudohypoparathyroidism type 1C skos:exactMatch mesh:C548076 semapv:UnspecifiedMatching MONDO:0012912 pseudopseudohypoparathyroidism skos:exactMatch DOID:4183 pseudopseudohypoparathyroidism semapv:UnspecifiedMatching MONDO:0012912 pseudopseudohypoparathyroidism skos:exactMatch MEDGEN:10995 semapv:UnspecifiedMatching MONDO:0012912 pseudopseudohypoparathyroidism skos:exactMatch NCIT:C129722 Albright Hereditary Osteodystrophy without Multiple Hormone Resistance semapv:UnspecifiedMatching MONDO:0012912 pseudopseudohypoparathyroidism skos:exactMatch OMIM:612463 pseudopseudohypoparathyroidism semapv:UnspecifiedMatching MONDO:0012912 pseudopseudohypoparathyroidism skos:exactMatch Orphanet:79445 Pseudopseudohypoparathyroidism semapv:UnspecifiedMatching MONDO:0012912 pseudopseudohypoparathyroidism skos:exactMatch SCTID:237659007 semapv:UnspecifiedMatching MONDO:0012912 pseudopseudohypoparathyroidism skos:exactMatch UMLS:C0033835 semapv:UnspecifiedMatching MONDO:0012912 pseudopseudohypoparathyroidism skos:exactMatch icd11.foundation:245649135 Pseudopseudohypoparathyroidism semapv:UnspecifiedMatching MONDO:0012912 pseudopseudohypoparathyroidism skos:exactMatch mesh:D011556 semapv:UnspecifiedMatching MONDO:0012913 Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome skos:exactMatch MEDGEN:382718 semapv:UnspecifiedMatching MONDO:0012913 Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome skos:exactMatch NCIT:C122804 WAGRO Syndrome semapv:UnspecifiedMatching MONDO:0012913 Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome skos:exactMatch OMIM:612469 WAGRO syndrome semapv:UnspecifiedMatching MONDO:0012913 Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome skos:exactMatch UMLS:C2675904 semapv:UnspecifiedMatching MONDO:0012913 Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome skos:exactMatch mesh:C567292 semapv:UnspecifiedMatching MONDO:0012914 chromosome 1q21.1 deletion syndrome skos:exactMatch DOID:0060411 chromosome 1q21.1 deletion syndrome semapv:UnspecifiedMatching MONDO:0012914 chromosome 1q21.1 deletion syndrome skos:exactMatch MEDGEN:393913 semapv:UnspecifiedMatching MONDO:0012914 chromosome 1q21.1 deletion syndrome skos:exactMatch OMIM:612474 chromosome 1q21.1 deletion syndrome, 1.35-mb semapv:UnspecifiedMatching MONDO:0012914 chromosome 1q21.1 deletion syndrome skos:exactMatch Orphanet:250989 1q21.1 microdeletion syndrome semapv:UnspecifiedMatching MONDO:0012914 chromosome 1q21.1 deletion syndrome skos:exactMatch SCTID:699305004 semapv:UnspecifiedMatching MONDO:0012914 chromosome 1q21.1 deletion syndrome skos:exactMatch UMLS:C2675897 semapv:UnspecifiedMatching MONDO:0012914 chromosome 1q21.1 deletion syndrome skos:exactMatch mesh:C567291 semapv:UnspecifiedMatching MONDO:0012915 chromosome 1q21.1 duplication syndrome skos:exactMatch DOID:0060435 chromosome 1q21.1 duplication syndrome semapv:UnspecifiedMatching MONDO:0012915 chromosome 1q21.1 duplication syndrome skos:exactMatch MEDGEN:382715 semapv:UnspecifiedMatching MONDO:0012915 chromosome 1q21.1 duplication syndrome skos:exactMatch OMIM:612475 chromosome 1q21.1 duplication syndrome semapv:UnspecifiedMatching MONDO:0012915 chromosome 1q21.1 duplication syndrome skos:exactMatch Orphanet:250994 1q21.1 microduplication syndrome semapv:UnspecifiedMatching MONDO:0012915 chromosome 1q21.1 duplication syndrome skos:exactMatch UMLS:C2675891 semapv:UnspecifiedMatching MONDO:0012915 chromosome 1q21.1 duplication syndrome skos:exactMatch mesh:C567290 semapv:UnspecifiedMatching MONDO:0012916 chromosome 2p16.1-p15 deletion syndrome skos:exactMatch DOID:0060415 chromosome 2p16.1-p15 deletion syndrome semapv:UnspecifiedMatching MONDO:0012916 chromosome 2p16.1-p15 deletion syndrome skos:exactMatch MEDGEN:390902 semapv:UnspecifiedMatching MONDO:0012916 chromosome 2p16.1-p15 deletion syndrome skos:exactMatch OMIM:612513 chromosome 2p16.1-p15 deletion syndrome semapv:UnspecifiedMatching MONDO:0012916 chromosome 2p16.1-p15 deletion syndrome skos:exactMatch Orphanet:261349 2p15p16.1 microdeletion syndrome semapv:UnspecifiedMatching MONDO:0012916 chromosome 2p16.1-p15 deletion syndrome skos:exactMatch SCTID:719651000 semapv:UnspecifiedMatching MONDO:0012916 chromosome 2p16.1-p15 deletion syndrome skos:exactMatch UMLS:C2675875 semapv:UnspecifiedMatching MONDO:0012916 chromosome 2p16.1-p15 deletion syndrome skos:exactMatch mesh:C567289 semapv:UnspecifiedMatching MONDO:0012917 specific language impairment 4 skos:exactMatch MEDGEN:393910 semapv:UnspecifiedMatching MONDO:0012917 specific language impairment 4 skos:exactMatch OMIM:612514 specific language impairment 4 semapv:UnspecifiedMatching MONDO:0012917 specific language impairment 4 skos:exactMatch UMLS:C2675874 semapv:UnspecifiedMatching MONDO:0012917 specific language impairment 4 skos:exactMatch mesh:C567288 semapv:UnspecifiedMatching MONDO:0012918 primary ciliary dyskinesia 10 skos:exactMatch DOID:0110612 primary ciliary dyskinesia 10 semapv:UnspecifiedMatching MONDO:0012918 primary ciliary dyskinesia 10 skos:exactMatch MEDGEN:382707 semapv:UnspecifiedMatching MONDO:0012918 primary ciliary dyskinesia 10 skos:exactMatch OMIM:612518 ciliary dyskinesia, primary, 10 semapv:UnspecifiedMatching MONDO:0012918 primary ciliary dyskinesia 10 skos:exactMatch UMLS:C2675867 semapv:UnspecifiedMatching MONDO:0012918 primary ciliary dyskinesia 10 skos:exactMatch mesh:C567287 semapv:UnspecifiedMatching MONDO:0012919 type 1 diabetes mellitus 20 skos:exactMatch DOID:0110757 type 1 diabetes mellitus 20 semapv:UnspecifiedMatching MONDO:0012919 type 1 diabetes mellitus 20 skos:exactMatch MEDGEN:382706 semapv:UnspecifiedMatching MONDO:0012919 type 1 diabetes mellitus 20 skos:exactMatch OMIM:612520 type 1 diabetes mellitus 20 semapv:UnspecifiedMatching MONDO:0012919 type 1 diabetes mellitus 20 skos:exactMatch UMLS:C2675866 semapv:UnspecifiedMatching MONDO:0012919 type 1 diabetes mellitus 20 skos:exactMatch mesh:C567286 semapv:UnspecifiedMatching MONDO:0012920 type 1 diabetes mellitus 21 skos:exactMatch DOID:0110758 type 1 diabetes mellitus 21 semapv:UnspecifiedMatching MONDO:0012920 type 1 diabetes mellitus 21 skos:exactMatch MEDGEN:436543 semapv:UnspecifiedMatching MONDO:0012920 type 1 diabetes mellitus 21 skos:exactMatch OMIM:612521 type 1 diabetes mellitus 21 semapv:UnspecifiedMatching MONDO:0012920 type 1 diabetes mellitus 21 skos:exactMatch UMLS:C2675865 semapv:UnspecifiedMatching MONDO:0012920 type 1 diabetes mellitus 21 skos:exactMatch mesh:C567285 semapv:UnspecifiedMatching MONDO:0012921 type 1 diabetes mellitus 22 skos:exactMatch DOID:0110759 type 1 diabetes mellitus 22 semapv:UnspecifiedMatching MONDO:0012921 type 1 diabetes mellitus 22 skos:exactMatch MEDGEN:390900 semapv:UnspecifiedMatching MONDO:0012921 type 1 diabetes mellitus 22 skos:exactMatch OMIM:612522 type 1 diabetes mellitus 22 semapv:UnspecifiedMatching MONDO:0012921 type 1 diabetes mellitus 22 skos:exactMatch UMLS:C2675864 semapv:UnspecifiedMatching MONDO:0012921 type 1 diabetes mellitus 22 skos:exactMatch mesh:C567284 semapv:UnspecifiedMatching MONDO:0012922 pyloric stenosis, infantile hypertrophic, 5 skos:exactMatch MEDGEN:390899 semapv:UnspecifiedMatching MONDO:0012922 pyloric stenosis, infantile hypertrophic, 5 skos:exactMatch OMIM:612525 pyloric stenosis, infantile hypertrophic, 5 semapv:UnspecifiedMatching MONDO:0012922 pyloric stenosis, infantile hypertrophic, 5 skos:exactMatch UMLS:C2675862 semapv:UnspecifiedMatching MONDO:0012922 pyloric stenosis, infantile hypertrophic, 5 skos:exactMatch mesh:C567283 semapv:UnspecifiedMatching MONDO:0012923 congenital generalized lipodystrophy type 3 skos:exactMatch DOID:0111137 congenital generalized lipodystrophy type 3 semapv:UnspecifiedMatching MONDO:0012923 congenital generalized lipodystrophy type 3 skos:exactMatch MEDGEN:436541 semapv:UnspecifiedMatching MONDO:0012923 congenital generalized lipodystrophy type 3 skos:exactMatch OMIM:612526 lipodystrophy, congenital generalized, type 3 semapv:UnspecifiedMatching MONDO:0012923 congenital generalized lipodystrophy type 3 skos:exactMatch Orphanet:696206 Congenital generalized lipodystrophy type 3 semapv:UnspecifiedMatching MONDO:0012923 congenital generalized lipodystrophy type 3 skos:exactMatch UMLS:C2675861 semapv:UnspecifiedMatching MONDO:0012923 congenital generalized lipodystrophy type 3 skos:exactMatch mesh:C567282 semapv:UnspecifiedMatching MONDO:0012924 Diamond-Blackfan anemia 4 skos:exactMatch DOID:0111890 Diamond-Blackfan anemia 4 semapv:UnspecifiedMatching MONDO:0012924 Diamond-Blackfan anemia 4 skos:exactMatch MEDGEN:393906 semapv:UnspecifiedMatching MONDO:0012924 Diamond-Blackfan anemia 4 skos:exactMatch NCIT:C176913 Diamond-Blackfan Anemia 4 semapv:UnspecifiedMatching MONDO:0012924 Diamond-Blackfan anemia 4 skos:exactMatch OMIM:612527 diamond-blackfan anemia 4 semapv:UnspecifiedMatching MONDO:0012924 Diamond-Blackfan anemia 4 skos:exactMatch UMLS:C2675860 semapv:UnspecifiedMatching MONDO:0012924 Diamond-Blackfan anemia 4 skos:exactMatch mesh:C567281 semapv:UnspecifiedMatching MONDO:0012925 Diamond-Blackfan anemia 5 skos:exactMatch DOID:0111883 Diamond-Blackfan anemia 5 semapv:UnspecifiedMatching MONDO:0012925 Diamond-Blackfan anemia 5 skos:exactMatch MEDGEN:382705 semapv:UnspecifiedMatching MONDO:0012925 Diamond-Blackfan anemia 5 skos:exactMatch NCIT:C176914 Diamond-Blackfan Anemia 5 semapv:UnspecifiedMatching MONDO:0012925 Diamond-Blackfan anemia 5 skos:exactMatch OMIM:612528 diamond-blackfan anemia 5 semapv:UnspecifiedMatching MONDO:0012925 Diamond-Blackfan anemia 5 skos:exactMatch UMLS:C2675859 semapv:UnspecifiedMatching MONDO:0012925 Diamond-Blackfan anemia 5 skos:exactMatch mesh:C567280 semapv:UnspecifiedMatching MONDO:0012926 amelogenesis imperfecta hypomaturation type 2A2 skos:exactMatch DOID:0110060 amelogenesis imperfecta hypomaturation type 2A2 semapv:UnspecifiedMatching MONDO:0012926 amelogenesis imperfecta hypomaturation type 2A2 skos:exactMatch MEDGEN:436540 semapv:UnspecifiedMatching MONDO:0012926 amelogenesis imperfecta hypomaturation type 2A2 skos:exactMatch OMIM:612529 amelogenesis imperfecta, hypomaturation type, iia2 semapv:UnspecifiedMatching MONDO:0012926 amelogenesis imperfecta hypomaturation type 2A2 skos:exactMatch UMLS:C2675858 semapv:UnspecifiedMatching MONDO:0012926 amelogenesis imperfecta hypomaturation type 2A2 skos:exactMatch mesh:C567279 semapv:UnspecifiedMatching MONDO:0012927 chromosome 1q41-q42 deletion syndrome skos:exactMatch DOID:0060412 chromosome 1q41-q42 deletion syndrome semapv:UnspecifiedMatching MONDO:0012927 chromosome 1q41-q42 deletion syndrome skos:exactMatch MEDGEN:382704 semapv:UnspecifiedMatching MONDO:0012927 chromosome 1q41-q42 deletion syndrome skos:exactMatch OMIM:612530 chromosome 1q41-q42 deletion syndrome semapv:UnspecifiedMatching MONDO:0012927 chromosome 1q41-q42 deletion syndrome skos:exactMatch Orphanet:250999 1q41q42 microdeletion syndrome semapv:UnspecifiedMatching MONDO:0012927 chromosome 1q41-q42 deletion syndrome skos:exactMatch SCTID:716515000 semapv:UnspecifiedMatching MONDO:0012927 chromosome 1q41-q42 deletion syndrome skos:exactMatch UMLS:C2675857 semapv:UnspecifiedMatching MONDO:0012928 hereditary spastic paraplegia 42 skos:exactMatch DOID:0110794 hereditary spastic paraplegia 42 semapv:UnspecifiedMatching MONDO:0012928 hereditary spastic paraplegia 42 skos:exactMatch MEDGEN:393407 semapv:UnspecifiedMatching MONDO:0012928 hereditary spastic paraplegia 42 skos:exactMatch OMIM:612539 spastic paraplegia 42, autosomal dominant semapv:UnspecifiedMatching MONDO:0012928 hereditary spastic paraplegia 42 skos:exactMatch Orphanet:171863 Autosomal dominant spastic paraplegia type 42 semapv:UnspecifiedMatching MONDO:0012928 hereditary spastic paraplegia 42 skos:exactMatch SCTID:763070001 semapv:UnspecifiedMatching MONDO:0012928 hereditary spastic paraplegia 42 skos:exactMatch UMLS:C2675528 semapv:UnspecifiedMatching MONDO:0012928 hereditary spastic paraplegia 42 skos:exactMatch mesh:C567262 semapv:UnspecifiedMatching MONDO:0012929 Compton-North congenital myopathy skos:exactMatch DOID:0080101 Compton-North congenital myopathy semapv:UnspecifiedMatching MONDO:0012929 Compton-North congenital myopathy skos:exactMatch MEDGEN:393406 semapv:UnspecifiedMatching MONDO:0012929 Compton-North congenital myopathy skos:exactMatch OMIM:612540 congenital myopathy 12 semapv:UnspecifiedMatching MONDO:0012929 Compton-North congenital myopathy skos:exactMatch Orphanet:210163 Congenital lethal myopathy, Compton-North type semapv:UnspecifiedMatching MONDO:0012929 Compton-North congenital myopathy skos:exactMatch UMLS:C2675527 semapv:UnspecifiedMatching MONDO:0012929 Compton-North congenital myopathy skos:exactMatch mesh:C567261 semapv:UnspecifiedMatching MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency skos:exactMatch DOID:0112136 severe congenital neutropenia 4 semapv:UnspecifiedMatching MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency skos:exactMatch MEDGEN:414066 semapv:UnspecifiedMatching MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency skos:exactMatch OMIM:612541 neutropenia, severe congenital, 4, autosomal recessive semapv:UnspecifiedMatching MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency skos:exactMatch Orphanet:331176 Severe congenital neutropenia due to G6PC3 deficiency semapv:UnspecifiedMatching MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency skos:exactMatch UMLS:C2751630 semapv:UnspecifiedMatching MONDO:0012931 focal segmental glomerulosclerosis 4, susceptibility to skos:exactMatch MEDGEN:390820 semapv:UnspecifiedMatching MONDO:0012931 focal segmental glomerulosclerosis 4, susceptibility to skos:exactMatch OMIM:612551 focal segmental glomerulosclerosis 4, susceptibility to semapv:UnspecifiedMatching MONDO:0012931 focal segmental glomerulosclerosis 4, susceptibility to skos:exactMatch UMLS:C2675525 semapv:UnspecifiedMatching MONDO:0012932 myopia 16, autosomal dominant skos:exactMatch MEDGEN:390819 semapv:UnspecifiedMatching MONDO:0012932 myopia 16, autosomal dominant skos:exactMatch OMIM:612554 myopia 16, autosomal dominant semapv:UnspecifiedMatching MONDO:0012932 myopia 16, autosomal dominant skos:exactMatch UMLS:C2675523 semapv:UnspecifiedMatching MONDO:0012932 myopia 16, autosomal dominant skos:exactMatch mesh:C567259 semapv:UnspecifiedMatching MONDO:0012933 breast-ovarian cancer, familial, susceptibility to, 2 skos:exactMatch MEDGEN:382625 semapv:UnspecifiedMatching MONDO:0012933 breast-ovarian cancer, familial, susceptibility to, 2 skos:exactMatch OMIM:612555 breast-ovarian cancer, familial, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0012933 breast-ovarian cancer, familial, susceptibility to, 2 skos:exactMatch UMLS:C2675520 semapv:UnspecifiedMatching MONDO:0012934 leukemia, chronic lymphocytic, susceptibility to, 3 skos:exactMatch MEDGEN:382621 semapv:UnspecifiedMatching MONDO:0012934 leukemia, chronic lymphocytic, susceptibility to, 3 skos:exactMatch OMIM:612557 leukemia, chronic lymphocytic, susceptibility to, 3 semapv:UnspecifiedMatching MONDO:0012934 leukemia, chronic lymphocytic, susceptibility to, 3 skos:exactMatch UMLS:C2675516 semapv:UnspecifiedMatching MONDO:0012935 leukemia, chronic lymphocytic, susceptibility to, 4 skos:exactMatch MEDGEN:382620 semapv:UnspecifiedMatching MONDO:0012935 leukemia, chronic lymphocytic, susceptibility to, 4 skos:exactMatch OMIM:612558 leukemia, chronic lymphocytic, susceptibility to, 4 semapv:UnspecifiedMatching MONDO:0012935 leukemia, chronic lymphocytic, susceptibility to, 4 skos:exactMatch UMLS:C2675515 semapv:UnspecifiedMatching MONDO:0012936 leukemia, chronic lymphocytic, susceptibility to, 5 skos:exactMatch MEDGEN:436452 semapv:UnspecifiedMatching MONDO:0012936 leukemia, chronic lymphocytic, susceptibility to, 5 skos:exactMatch OMIM:612559 leukemia, chronic lymphocytic, susceptibility to, 5 semapv:UnspecifiedMatching MONDO:0012936 leukemia, chronic lymphocytic, susceptibility to, 5 skos:exactMatch UMLS:C2675514 semapv:UnspecifiedMatching MONDO:0012937 Diamond-Blackfan anemia 6 skos:exactMatch DOID:0111879 Diamond-Blackfan anemia 6 semapv:UnspecifiedMatching MONDO:0012937 Diamond-Blackfan anemia 6 skos:exactMatch MEDGEN:419918 semapv:UnspecifiedMatching MONDO:0012937 Diamond-Blackfan anemia 6 skos:exactMatch NCIT:C176915 Diamond-Blackfan Anemia 6 semapv:UnspecifiedMatching MONDO:0012937 Diamond-Blackfan anemia 6 skos:exactMatch OMIM:612561 diamond-blackfan anemia 6 semapv:UnspecifiedMatching MONDO:0012937 Diamond-Blackfan anemia 6 skos:exactMatch UMLS:C2931850 semapv:UnspecifiedMatching MONDO:0012937 Diamond-Blackfan anemia 6 skos:exactMatch mesh:C538442 semapv:UnspecifiedMatching MONDO:0012938 Diamond-Blackfan anemia 7 skos:exactMatch DOID:0111878 Diamond-Blackfan anemia 7 semapv:UnspecifiedMatching MONDO:0012938 Diamond-Blackfan anemia 7 skos:exactMatch MEDGEN:436451 semapv:UnspecifiedMatching MONDO:0012938 Diamond-Blackfan anemia 7 skos:exactMatch NCIT:C176916 Diamond-Blackfan Anemia 7 semapv:UnspecifiedMatching MONDO:0012938 Diamond-Blackfan anemia 7 skos:exactMatch OMIM:612562 diamond-blackfan anemia 7 semapv:UnspecifiedMatching MONDO:0012938 Diamond-Blackfan anemia 7 skos:exactMatch UMLS:C2675512 semapv:UnspecifiedMatching MONDO:0012938 Diamond-Blackfan anemia 7 skos:exactMatch mesh:C567254 semapv:UnspecifiedMatching MONDO:0012939 Diamond-Blackfan anemia 8 skos:exactMatch DOID:0111881 Diamond-Blackfan anemia 8 semapv:UnspecifiedMatching MONDO:0012939 Diamond-Blackfan anemia 8 skos:exactMatch MEDGEN:390817 semapv:UnspecifiedMatching MONDO:0012939 Diamond-Blackfan anemia 8 skos:exactMatch NCIT:C176917 Diamond-Blackfan Anemia 8 semapv:UnspecifiedMatching MONDO:0012939 Diamond-Blackfan anemia 8 skos:exactMatch OMIM:612563 diamond-blackfan anemia 8 semapv:UnspecifiedMatching MONDO:0012939 Diamond-Blackfan anemia 8 skos:exactMatch UMLS:C2675511 semapv:UnspecifiedMatching MONDO:0012939 Diamond-Blackfan anemia 8 skos:exactMatch mesh:C567253 semapv:UnspecifiedMatching MONDO:0012940 inflammatory bowel disease 24 skos:exactMatch DOID:0110908 inflammatory bowel disease 24 semapv:UnspecifiedMatching MONDO:0012940 inflammatory bowel disease 24 skos:exactMatch MEDGEN:393404 semapv:UnspecifiedMatching MONDO:0012940 inflammatory bowel disease 24 skos:exactMatch OMIM:612566 inflammatory bowel disease 24 semapv:UnspecifiedMatching MONDO:0012940 inflammatory bowel disease 24 skos:exactMatch UMLS:C2675509 semapv:UnspecifiedMatching MONDO:0012940 inflammatory bowel disease 24 skos:exactMatch mesh:C567252 semapv:UnspecifiedMatching MONDO:0012941 inflammatory bowel disease 25 skos:exactMatch DOID:0110909 inflammatory bowel disease 25 semapv:UnspecifiedMatching MONDO:0012941 inflammatory bowel disease 25 skos:exactMatch MEDGEN:393403 semapv:UnspecifiedMatching MONDO:0012941 inflammatory bowel disease 25 skos:exactMatch OMIM:612567 inflammatory bowel disease 25, autosomal recessive semapv:UnspecifiedMatching MONDO:0012941 inflammatory bowel disease 25 skos:exactMatch UMLS:C2675508 semapv:UnspecifiedMatching MONDO:0012941 inflammatory bowel disease 25 skos:exactMatch mesh:C567251 semapv:UnspecifiedMatching MONDO:0012942 lung cancer susceptibility 3 skos:exactMatch MEDGEN:382615 semapv:UnspecifiedMatching MONDO:0012942 lung cancer susceptibility 3 skos:exactMatch OMIM:612571 lung cancer susceptibility 3 semapv:UnspecifiedMatching MONDO:0012942 lung cancer susceptibility 3 skos:exactMatch UMLS:C2675497 semapv:UnspecifiedMatching MONDO:0012943 retinitis pigmentosa 46 skos:exactMatch DOID:0110409 retinitis pigmentosa 46 semapv:UnspecifiedMatching MONDO:0012943 retinitis pigmentosa 46 skos:exactMatch MEDGEN:382614 semapv:UnspecifiedMatching MONDO:0012943 retinitis pigmentosa 46 skos:exactMatch OMIM:612572 retinitis pigmentosa 46 semapv:UnspecifiedMatching MONDO:0012943 retinitis pigmentosa 46 skos:exactMatch UMLS:C2675496 semapv:UnspecifiedMatching MONDO:0012943 retinitis pigmentosa 46 skos:exactMatch mesh:C567249 semapv:UnspecifiedMatching MONDO:0012944 chromosome 17P13.3, telomeric, duplication syndrome skos:exactMatch MEDGEN:390813 semapv:UnspecifiedMatching MONDO:0012944 chromosome 17P13.3, telomeric, duplication syndrome skos:exactMatch OMIM:612576 chromosome 17p13.3, telomeric, duplication syndrome semapv:UnspecifiedMatching MONDO:0012944 chromosome 17P13.3, telomeric, duplication syndrome skos:exactMatch UMLS:C2675492 semapv:UnspecifiedMatching MONDO:0012944 chromosome 17P13.3, telomeric, duplication syndrome skos:exactMatch mesh:C567245 semapv:UnspecifiedMatching MONDO:0012945 amyotrophic lateral sclerosis type 11 skos:exactMatch DOID:0060202 amyotrophic lateral sclerosis type 11 semapv:UnspecifiedMatching MONDO:0012945 amyotrophic lateral sclerosis type 11 skos:exactMatch MEDGEN:393399 semapv:UnspecifiedMatching MONDO:0012945 amyotrophic lateral sclerosis type 11 skos:exactMatch OMIM:612577 amyotrophic lateral sclerosis 11 semapv:UnspecifiedMatching MONDO:0012945 amyotrophic lateral sclerosis type 11 skos:exactMatch UMLS:C2675491 semapv:UnspecifiedMatching MONDO:0012945 amyotrophic lateral sclerosis type 11 skos:exactMatch mesh:C567244 semapv:UnspecifiedMatching MONDO:0012946 intellectual disability, autosomal dominant 3 skos:exactMatch DOID:0070033 autosomal dominant intellectual developmental disorder 3 semapv:UnspecifiedMatching MONDO:0012946 intellectual disability, autosomal dominant 3 skos:exactMatch MEDGEN:436447 semapv:UnspecifiedMatching MONDO:0012946 intellectual disability, autosomal dominant 3 skos:exactMatch OMIM:612580 intellectual developmental disorder, autosomal dominant 3 semapv:UnspecifiedMatching MONDO:0012946 intellectual disability, autosomal dominant 3 skos:exactMatch UMLS:C2675488 semapv:UnspecifiedMatching MONDO:0012946 intellectual disability, autosomal dominant 3 skos:exactMatch mesh:C567241 semapv:UnspecifiedMatching MONDO:0012947 intellectual disability, autosomal dominant 4 skos:exactMatch DOID:0070034 autosomal dominant intellectual developmental disorder 4 semapv:UnspecifiedMatching MONDO:0012947 intellectual disability, autosomal dominant 4 skos:exactMatch MEDGEN:393397 semapv:UnspecifiedMatching MONDO:0012947 intellectual disability, autosomal dominant 4 skos:exactMatch OMIM:612581 intellectual developmental disorder, autosomal dominant 4 semapv:UnspecifiedMatching MONDO:0012947 intellectual disability, autosomal dominant 4 skos:exactMatch UMLS:C2675487 semapv:UnspecifiedMatching MONDO:0012947 intellectual disability, autosomal dominant 4 skos:exactMatch mesh:C567240 semapv:UnspecifiedMatching MONDO:0012948 chromosome 6pter-p24 deletion syndrome skos:exactMatch DOID:0060422 chromosome 6pter-p24 deletion syndrome semapv:UnspecifiedMatching MONDO:0012948 chromosome 6pter-p24 deletion syndrome skos:exactMatch MEDGEN:393396 semapv:UnspecifiedMatching MONDO:0012948 chromosome 6pter-p24 deletion syndrome skos:exactMatch OMIM:612582 chromosome 6pter-p24 deletion syndrome semapv:UnspecifiedMatching MONDO:0012948 chromosome 6pter-p24 deletion syndrome skos:exactMatch Orphanet:96125 Distal deletion 6p syndrome semapv:UnspecifiedMatching MONDO:0012948 chromosome 6pter-p24 deletion syndrome skos:exactMatch SCTID:718688008 semapv:UnspecifiedMatching MONDO:0012948 chromosome 6pter-p24 deletion syndrome skos:exactMatch UMLS:C2675486 semapv:UnspecifiedMatching MONDO:0012948 chromosome 6pter-p24 deletion syndrome skos:exactMatch mesh:C567239 semapv:UnspecifiedMatching MONDO:0012949 aneurysm, intracranial berry, 9 skos:exactMatch DOID:0080972 intracranial berry aneurysm 9 semapv:UnspecifiedMatching MONDO:0012949 aneurysm, intracranial berry, 9 skos:exactMatch MEDGEN:393395 semapv:UnspecifiedMatching MONDO:0012949 aneurysm, intracranial berry, 9 skos:exactMatch OMIM:612586 aneurysm, intracranial berry, 9 semapv:UnspecifiedMatching MONDO:0012949 aneurysm, intracranial berry, 9 skos:exactMatch UMLS:C2675485 semapv:UnspecifiedMatching MONDO:0012949 aneurysm, intracranial berry, 9 skos:exactMatch mesh:C567238 semapv:UnspecifiedMatching MONDO:0012950 aneurysm, intracranial berry, 10 skos:exactMatch DOID:0080973 intracranial berry aneurysm 10 semapv:UnspecifiedMatching MONDO:0012950 aneurysm, intracranial berry, 10 skos:exactMatch MEDGEN:390811 semapv:UnspecifiedMatching MONDO:0012950 aneurysm, intracranial berry, 10 skos:exactMatch OMIM:612587 aneurysm, intracranial berry, 10 semapv:UnspecifiedMatching MONDO:0012950 aneurysm, intracranial berry, 10 skos:exactMatch UMLS:C2675484 semapv:UnspecifiedMatching MONDO:0012950 aneurysm, intracranial berry, 10 skos:exactMatch mesh:C567237 semapv:UnspecifiedMatching MONDO:0012951 colorectal cancer, susceptibility to, 8 skos:exactMatch MEDGEN:436446 semapv:UnspecifiedMatching MONDO:0012951 colorectal cancer, susceptibility to, 8 skos:exactMatch OMIM:612589 colorectal cancer, susceptibility to, 8 semapv:UnspecifiedMatching MONDO:0012951 colorectal cancer, susceptibility to, 8 skos:exactMatch UMLS:C2675483 semapv:UnspecifiedMatching MONDO:0012952 colorectal cancer, susceptibility to, 9 skos:exactMatch MEDGEN:390810 semapv:UnspecifiedMatching MONDO:0012952 colorectal cancer, susceptibility to, 9 skos:exactMatch OMIM:612590 colorectal cancer, susceptibility to, 9 semapv:UnspecifiedMatching MONDO:0012952 colorectal cancer, susceptibility to, 9 skos:exactMatch UMLS:C2675482 semapv:UnspecifiedMatching MONDO:0012953 colorectal cancer, susceptibility to, 10 skos:exactMatch MEDGEN:436445 semapv:UnspecifiedMatching MONDO:0012953 colorectal cancer, susceptibility to, 10 skos:exactMatch OMIM:612591 colorectal cancer, susceptibility to, 10 semapv:UnspecifiedMatching MONDO:0012953 colorectal cancer, susceptibility to, 10 skos:exactMatch UMLS:C2675481 semapv:UnspecifiedMatching MONDO:0012954 colorectal cancer, susceptibility to, 11 skos:exactMatch MEDGEN:390809 semapv:UnspecifiedMatching MONDO:0012954 colorectal cancer, susceptibility to, 11 skos:exactMatch OMIM:612592 colorectal cancer, susceptibility to, 11 semapv:UnspecifiedMatching MONDO:0012954 colorectal cancer, susceptibility to, 11 skos:exactMatch UMLS:C2675480 semapv:UnspecifiedMatching MONDO:0012955 lung cancer susceptibility 4 skos:exactMatch MEDGEN:390808 semapv:UnspecifiedMatching MONDO:0012955 lung cancer susceptibility 4 skos:exactMatch OMIM:612593 lung cancer susceptibility 4 semapv:UnspecifiedMatching MONDO:0012955 lung cancer susceptibility 4 skos:exactMatch UMLS:C2675479 semapv:UnspecifiedMatching MONDO:0012956 multiple sclerosis, susceptibility to, 2 skos:exactMatch MEDGEN:436444 semapv:UnspecifiedMatching MONDO:0012956 multiple sclerosis, susceptibility to, 2 skos:exactMatch OMIM:612594 multiple sclerosis, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0012956 multiple sclerosis, susceptibility to, 2 skos:exactMatch UMLS:C2675478 semapv:UnspecifiedMatching MONDO:0012957 multiple sclerosis, susceptibility to, 3 skos:exactMatch MEDGEN:390807 semapv:UnspecifiedMatching MONDO:0012957 multiple sclerosis, susceptibility to, 3 skos:exactMatch OMIM:612595 multiple sclerosis, susceptibility to, 3 semapv:UnspecifiedMatching MONDO:0012957 multiple sclerosis, susceptibility to, 3 skos:exactMatch UMLS:C2675477 semapv:UnspecifiedMatching MONDO:0012958 multiple sclerosis, susceptibility to, 4 skos:exactMatch MEDGEN:436443 semapv:UnspecifiedMatching MONDO:0012958 multiple sclerosis, susceptibility to, 4 skos:exactMatch OMIM:612596 multiple sclerosis, susceptibility to, 4 semapv:UnspecifiedMatching MONDO:0012958 multiple sclerosis, susceptibility to, 4 skos:exactMatch UMLS:C2675476 semapv:UnspecifiedMatching MONDO:0012959 psoriasis 11, susceptibility to skos:exactMatch DOID:0111285 psoriasis 11 semapv:UnspecifiedMatching MONDO:0012959 psoriasis 11, susceptibility to skos:exactMatch MEDGEN:382613 semapv:UnspecifiedMatching MONDO:0012959 psoriasis 11, susceptibility to skos:exactMatch OMIM:612599 psoriasis 11, susceptibility to semapv:UnspecifiedMatching MONDO:0012959 psoriasis 11, susceptibility to skos:exactMatch UMLS:C2675475 semapv:UnspecifiedMatching MONDO:0012960 intellectual disability, autosomal dominant 5 skos:exactMatch DOID:0070035 autosomal dominant intellectual developmental disorder 5 semapv:UnspecifiedMatching MONDO:0012960 intellectual disability, autosomal dominant 5 skos:exactMatch MEDGEN:382611 semapv:UnspecifiedMatching MONDO:0012960 intellectual disability, autosomal dominant 5 skos:exactMatch OMIM:612621 intellectual developmental disorder, autosomal dominant 5 semapv:UnspecifiedMatching MONDO:0012960 intellectual disability, autosomal dominant 5 skos:exactMatch Orphanet:544254 SYNGAP1-related developmental and epileptic encephalopathy semapv:UnspecifiedMatching MONDO:0012960 intellectual disability, autosomal dominant 5 skos:exactMatch UMLS:C2675473 semapv:UnspecifiedMatching MONDO:0012960 intellectual disability, autosomal dominant 5 skos:exactMatch mesh:C567234 semapv:UnspecifiedMatching MONDO:0012961 type 1 diabetes mellitus 23 skos:exactMatch DOID:0110760 type 1 diabetes mellitus 23 semapv:UnspecifiedMatching MONDO:0012961 type 1 diabetes mellitus 23 skos:exactMatch MEDGEN:382610 semapv:UnspecifiedMatching MONDO:0012961 type 1 diabetes mellitus 23 skos:exactMatch OMIM:612622 type 1 diabetes mellitus 23 semapv:UnspecifiedMatching MONDO:0012961 type 1 diabetes mellitus 23 skos:exactMatch UMLS:C2675472 semapv:UnspecifiedMatching MONDO:0012961 type 1 diabetes mellitus 23 skos:exactMatch mesh:C567233 semapv:UnspecifiedMatching MONDO:0012962 microvascular complications of diabetes, susceptibility to, 2 skos:exactMatch MEDGEN:436442 semapv:UnspecifiedMatching MONDO:0012962 microvascular complications of diabetes, susceptibility to, 2 skos:exactMatch OMIM:612623 microvascular complications of diabetes, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0012962 microvascular complications of diabetes, susceptibility to, 2 skos:exactMatch UMLS:C2675471 semapv:UnspecifiedMatching MONDO:0012963 microvascular complications of diabetes, susceptibility to, 3 skos:exactMatch MEDGEN:390806 semapv:UnspecifiedMatching MONDO:0012963 microvascular complications of diabetes, susceptibility to, 3 skos:exactMatch OMIM:612624 microvascular complications of diabetes, susceptibility to, 3 semapv:UnspecifiedMatching MONDO:0012963 microvascular complications of diabetes, susceptibility to, 3 skos:exactMatch UMLS:C2675470 semapv:UnspecifiedMatching MONDO:0012964 chromosome 15q26-qter deletion syndrome skos:exactMatch DOID:0060397 chromosome 15q26-qter deletion syndrome semapv:UnspecifiedMatching MONDO:0012964 chromosome 15q26-qter deletion syndrome skos:exactMatch MEDGEN:390804 semapv:UnspecifiedMatching MONDO:0012964 chromosome 15q26-qter deletion syndrome skos:exactMatch OMIM:612626 chromosome 15q26-qter deletion syndrome semapv:UnspecifiedMatching MONDO:0012964 chromosome 15q26-qter deletion syndrome skos:exactMatch Orphanet:1596 Distal deletion 15q syndrome semapv:UnspecifiedMatching MONDO:0012964 chromosome 15q26-qter deletion syndrome skos:exactMatch SCTID:766050000 semapv:UnspecifiedMatching MONDO:0012964 chromosome 15q26-qter deletion syndrome skos:exactMatch UMLS:C2675463 semapv:UnspecifiedMatching MONDO:0012964 chromosome 15q26-qter deletion syndrome skos:exactMatch mesh:C567232 semapv:UnspecifiedMatching MONDO:0012965 seizures, benign familial infantile, 4 skos:exactMatch DOID:0081117 benign familial infantile seizures 4 semapv:UnspecifiedMatching MONDO:0012965 seizures, benign familial infantile, 4 skos:exactMatch MEDGEN:436440 semapv:UnspecifiedMatching MONDO:0012965 seizures, benign familial infantile, 4 skos:exactMatch OMIM:612627 seizures, benign familial infantile, 4 semapv:UnspecifiedMatching MONDO:0012965 seizures, benign familial infantile, 4 skos:exactMatch UMLS:C2675462 semapv:UnspecifiedMatching MONDO:0012965 seizures, benign familial infantile, 4 skos:exactMatch mesh:C567231 semapv:UnspecifiedMatching MONDO:0012966 microvascular complications of diabetes, susceptibility to, 4 skos:exactMatch MEDGEN:382527 semapv:UnspecifiedMatching MONDO:0012966 microvascular complications of diabetes, susceptibility to, 4 skos:exactMatch OMIM:612628 microvascular complications of diabetes, susceptibility to, 4 semapv:UnspecifiedMatching MONDO:0012966 microvascular complications of diabetes, susceptibility to, 4 skos:exactMatch UMLS:C2675112 semapv:UnspecifiedMatching MONDO:0012967 hemolytic anemia due to adenylate kinase deficiency skos:exactMatch DOID:0051004 congenital nonspherocytic hemolytic anemia 3 semapv:UnspecifiedMatching MONDO:0012967 hemolytic anemia due to adenylate kinase deficiency skos:exactMatch MEDGEN:390802 semapv:UnspecifiedMatching MONDO:0012967 hemolytic anemia due to adenylate kinase deficiency skos:exactMatch OMIM:612631 anemia, congenital, nonspherocytic hemolytic, 3 semapv:UnspecifiedMatching MONDO:0012967 hemolytic anemia due to adenylate kinase deficiency skos:exactMatch Orphanet:86817 Hemolytic anemia due to adenylate kinase deficiency semapv:UnspecifiedMatching MONDO:0012967 hemolytic anemia due to adenylate kinase deficiency skos:exactMatch SCTID:766982000 semapv:UnspecifiedMatching MONDO:0012967 hemolytic anemia due to adenylate kinase deficiency skos:exactMatch UMLS:C2675459 semapv:UnspecifiedMatching MONDO:0012967 hemolytic anemia due to adenylate kinase deficiency skos:exactMatch mesh:C567228 semapv:UnspecifiedMatching MONDO:0012968 Usher syndrome type 1H skos:exactMatch DOID:0110835 Usher syndrome type 1H semapv:UnspecifiedMatching MONDO:0012968 Usher syndrome type 1H skos:exactMatch MEDGEN:393392 semapv:UnspecifiedMatching MONDO:0012968 Usher syndrome type 1H skos:exactMatch OMIM:612632 usher syndrome, type 1h semapv:UnspecifiedMatching MONDO:0012968 Usher syndrome type 1H skos:exactMatch UMLS:C2675458 semapv:UnspecifiedMatching MONDO:0012968 Usher syndrome type 1H skos:exactMatch mesh:C567227 semapv:UnspecifiedMatching MONDO:0012969 microvascular complications of diabetes, susceptibility to, 5 skos:exactMatch MEDGEN:436225 semapv:UnspecifiedMatching MONDO:0012969 microvascular complications of diabetes, susceptibility to, 5 skos:exactMatch OMIM:612633 microvascular complications of diabetes, susceptibility to, 5 semapv:UnspecifiedMatching MONDO:0012969 microvascular complications of diabetes, susceptibility to, 5 skos:exactMatch UMLS:C2674665 semapv:UnspecifiedMatching MONDO:0012970 microvascular complications of diabetes, susceptibility to, 6 skos:exactMatch MEDGEN:382533 semapv:UnspecifiedMatching MONDO:0012970 microvascular complications of diabetes, susceptibility to, 6 skos:exactMatch OMIM:612634 microvascular complications of diabetes, susceptibility to, 6 semapv:UnspecifiedMatching MONDO:0012970 microvascular complications of diabetes, susceptibility to, 6 skos:exactMatch UMLS:C2675128 semapv:UnspecifiedMatching MONDO:0012971 microvascular complications of diabetes, susceptibility to, 7 skos:exactMatch MEDGEN:382123 semapv:UnspecifiedMatching MONDO:0012971 microvascular complications of diabetes, susceptibility to, 7 skos:exactMatch OMIM:612635 microvascular complications of diabetes, susceptibility to, 7 semapv:UnspecifiedMatching MONDO:0012971 microvascular complications of diabetes, susceptibility to, 7 skos:exactMatch UMLS:C2673520 semapv:UnspecifiedMatching MONDO:0012972 febrile seizures, familial, 10 skos:exactMatch DOID:0111304 familial febrile seizures 10 semapv:UnspecifiedMatching MONDO:0012972 febrile seizures, familial, 10 skos:exactMatch MEDGEN:390747 semapv:UnspecifiedMatching MONDO:0012972 febrile seizures, familial, 10 skos:exactMatch OMIM:612637 febrile seizures, familial, 10 semapv:UnspecifiedMatching MONDO:0012972 febrile seizures, familial, 10 skos:exactMatch UMLS:C2675251 semapv:UnspecifiedMatching MONDO:0012972 febrile seizures, familial, 10 skos:exactMatch mesh:C567218 semapv:UnspecifiedMatching MONDO:0012973 inflammatory bowel disease 26 skos:exactMatch DOID:0110901 inflammatory bowel disease 26 semapv:UnspecifiedMatching MONDO:0012973 inflammatory bowel disease 26 skos:exactMatch MEDGEN:382561 semapv:UnspecifiedMatching MONDO:0012973 inflammatory bowel disease 26 skos:exactMatch OMIM:612639 inflammatory bowel disease 26 semapv:UnspecifiedMatching MONDO:0012973 inflammatory bowel disease 26 skos:exactMatch UMLS:C2675249 semapv:UnspecifiedMatching MONDO:0012973 inflammatory bowel disease 26 skos:exactMatch mesh:C567217 semapv:UnspecifiedMatching MONDO:0012974 autosomal dominant nonsyndromic hearing loss 59 skos:exactMatch DOID:0110583 autosomal dominant nonsyndromic deafness 59 semapv:UnspecifiedMatching MONDO:0012974 autosomal dominant nonsyndromic hearing loss 59 skos:exactMatch MEDGEN:390743 semapv:UnspecifiedMatching MONDO:0012974 autosomal dominant nonsyndromic hearing loss 59 skos:exactMatch OMIM:612642 deafness, autosomal dominant 59 semapv:UnspecifiedMatching MONDO:0012974 autosomal dominant nonsyndromic hearing loss 59 skos:exactMatch UMLS:C2675238 semapv:UnspecifiedMatching MONDO:0012974 autosomal dominant nonsyndromic hearing loss 59 skos:exactMatch mesh:C567216 semapv:UnspecifiedMatching MONDO:0012975 autosomal dominant nonsyndromic hearing loss 3B skos:exactMatch DOID:0110565 autosomal dominant nonsyndromic deafness 3B semapv:UnspecifiedMatching MONDO:0012975 autosomal dominant nonsyndromic hearing loss 3B skos:exactMatch MEDGEN:436382 semapv:UnspecifiedMatching MONDO:0012975 autosomal dominant nonsyndromic hearing loss 3B skos:exactMatch OMIM:612643 deafness, autosomal dominant 3b semapv:UnspecifiedMatching MONDO:0012975 autosomal dominant nonsyndromic hearing loss 3B skos:exactMatch UMLS:C2675237 semapv:UnspecifiedMatching MONDO:0012975 autosomal dominant nonsyndromic hearing loss 3B skos:exactMatch mesh:C567215 semapv:UnspecifiedMatching MONDO:0012976 autosomal dominant nonsyndromic hearing loss 2B skos:exactMatch DOID:0110559 autosomal dominant nonsyndromic deafness 2B semapv:UnspecifiedMatching MONDO:0012976 autosomal dominant nonsyndromic hearing loss 2B skos:exactMatch MEDGEN:390742 semapv:UnspecifiedMatching MONDO:0012976 autosomal dominant nonsyndromic hearing loss 2B skos:exactMatch OMIM:612644 deafness, autosomal dominant 2b semapv:UnspecifiedMatching MONDO:0012976 autosomal dominant nonsyndromic hearing loss 2B skos:exactMatch UMLS:C2675236 semapv:UnspecifiedMatching MONDO:0012976 autosomal dominant nonsyndromic hearing loss 2B skos:exactMatch mesh:C567214 semapv:UnspecifiedMatching MONDO:0012977 autosomal recessive nonsyndromic hearing loss 1B skos:exactMatch DOID:0110476 autosomal recessive nonsyndromic deafness 1B semapv:UnspecifiedMatching MONDO:0012977 autosomal recessive nonsyndromic hearing loss 1B skos:exactMatch MEDGEN:436381 semapv:UnspecifiedMatching MONDO:0012977 autosomal recessive nonsyndromic hearing loss 1B skos:exactMatch OMIM:612645 deafness, autosomal recessive 1b semapv:UnspecifiedMatching MONDO:0012977 autosomal recessive nonsyndromic hearing loss 1B skos:exactMatch UMLS:C2675235 semapv:UnspecifiedMatching MONDO:0012977 autosomal recessive nonsyndromic hearing loss 1B skos:exactMatch mesh:C567213 semapv:UnspecifiedMatching MONDO:0012978 primary ciliary dyskinesia 11 skos:exactMatch DOID:0110602 primary ciliary dyskinesia 11 semapv:UnspecifiedMatching MONDO:0012978 primary ciliary dyskinesia 11 skos:exactMatch MEDGEN:390741 semapv:UnspecifiedMatching MONDO:0012978 primary ciliary dyskinesia 11 skos:exactMatch OMIM:612649 ciliary dyskinesia, primary, 11 semapv:UnspecifiedMatching MONDO:0012978 primary ciliary dyskinesia 11 skos:exactMatch UMLS:C2675229 semapv:UnspecifiedMatching MONDO:0012978 primary ciliary dyskinesia 11 skos:exactMatch mesh:C567212 semapv:UnspecifiedMatching MONDO:0012979 primary ciliary dyskinesia 12 skos:exactMatch DOID:0110601 primary ciliary dyskinesia 12 semapv:UnspecifiedMatching MONDO:0012979 primary ciliary dyskinesia 12 skos:exactMatch MEDGEN:436379 semapv:UnspecifiedMatching MONDO:0012979 primary ciliary dyskinesia 12 skos:exactMatch OMIM:612650 ciliary dyskinesia, primary, 12 semapv:UnspecifiedMatching MONDO:0012979 primary ciliary dyskinesia 12 skos:exactMatch UMLS:C2675228 semapv:UnspecifiedMatching MONDO:0012979 primary ciliary dyskinesia 12 skos:exactMatch mesh:C567211 semapv:UnspecifiedMatching MONDO:0012980 endocrine-cerebro-osteodysplasia syndrome skos:exactMatch DOID:0060641 endocrine-cerebro-osteodysplasia syndrome semapv:UnspecifiedMatching MONDO:0012980 endocrine-cerebro-osteodysplasia syndrome skos:exactMatch MEDGEN:390740 semapv:UnspecifiedMatching MONDO:0012980 endocrine-cerebro-osteodysplasia syndrome skos:exactMatch OMIM:612651 endocrine-cerebroosteodysplasia semapv:UnspecifiedMatching MONDO:0012980 endocrine-cerebro-osteodysplasia syndrome skos:exactMatch Orphanet:199332 Endocrine-cerebro-osteodysplasia syndrome semapv:UnspecifiedMatching MONDO:0012980 endocrine-cerebro-osteodysplasia syndrome skos:exactMatch SCTID:723309006 semapv:UnspecifiedMatching MONDO:0012980 endocrine-cerebro-osteodysplasia syndrome skos:exactMatch UMLS:C2675227 semapv:UnspecifiedMatching MONDO:0012980 endocrine-cerebro-osteodysplasia syndrome skos:exactMatch icd11.foundation:413985102 Endocrine-cerebro-osteodysplasia syndrome semapv:UnspecifiedMatching MONDO:0012980 endocrine-cerebro-osteodysplasia syndrome skos:exactMatch mesh:C567210 semapv:UnspecifiedMatching MONDO:0012981 hereditary spherocytosis type 4 skos:exactMatch DOID:0110919 hereditary spherocytosis type 4 semapv:UnspecifiedMatching MONDO:0012981 hereditary spherocytosis type 4 skos:exactMatch MEDGEN:436375 semapv:UnspecifiedMatching MONDO:0012981 hereditary spherocytosis type 4 skos:exactMatch OMIM:612653 spherocytosis, type 4 semapv:UnspecifiedMatching MONDO:0012981 hereditary spherocytosis type 4 skos:exactMatch UMLS:C2675212 semapv:UnspecifiedMatching MONDO:0012981 hereditary spherocytosis type 4 skos:exactMatch mesh:C567208 semapv:UnspecifiedMatching MONDO:0012982 episodic ataxia type 6 skos:exactMatch DOID:0050994 episodic ataxia type 6 semapv:UnspecifiedMatching MONDO:0012982 episodic ataxia type 6 skos:exactMatch MEDGEN:390739 semapv:UnspecifiedMatching MONDO:0012982 episodic ataxia type 6 skos:exactMatch OMIM:612656 episodic ataxia, type 6 semapv:UnspecifiedMatching MONDO:0012982 episodic ataxia type 6 skos:exactMatch Orphanet:209967 Episodic ataxia type 6 semapv:UnspecifiedMatching MONDO:0012982 episodic ataxia type 6 skos:exactMatch SCTID:718753002 semapv:UnspecifiedMatching MONDO:0012982 episodic ataxia type 6 skos:exactMatch UMLS:C2675211 semapv:UnspecifiedMatching MONDO:0012982 episodic ataxia type 6 skos:exactMatch icd11.foundation:1493336901 Episodic ataxia type 6 semapv:UnspecifiedMatching MONDO:0012982 episodic ataxia type 6 skos:exactMatch mesh:C567207 semapv:UnspecifiedMatching MONDO:0012983 cone-rod dystrophy 12 skos:exactMatch DOID:0111019 cone-rod dystrophy 12 semapv:UnspecifiedMatching MONDO:0012983 cone-rod dystrophy 12 skos:exactMatch MEDGEN:393334 semapv:UnspecifiedMatching MONDO:0012983 cone-rod dystrophy 12 skos:exactMatch OMIM:612657 cone-rod dystrophy 12 semapv:UnspecifiedMatching MONDO:0012983 cone-rod dystrophy 12 skos:exactMatch UMLS:C2675210 semapv:UnspecifiedMatching MONDO:0012983 cone-rod dystrophy 12 skos:exactMatch mesh:C567206 semapv:UnspecifiedMatching MONDO:0012984 PHARC syndrome skos:exactMatch DOID:0080181 PHARC syndrome semapv:UnspecifiedMatching MONDO:0012984 PHARC syndrome skos:exactMatch MEDGEN:436373 semapv:UnspecifiedMatching MONDO:0012984 PHARC syndrome skos:exactMatch OMIM:612674 polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract semapv:UnspecifiedMatching MONDO:0012984 PHARC syndrome skos:exactMatch Orphanet:171848 Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome semapv:UnspecifiedMatching MONDO:0012984 PHARC syndrome skos:exactMatch SCTID:723452007 semapv:UnspecifiedMatching MONDO:0012984 PHARC syndrome skos:exactMatch UMLS:C2675204 semapv:UnspecifiedMatching MONDO:0012984 PHARC syndrome skos:exactMatch mesh:C567203 semapv:UnspecifiedMatching MONDO:0012985 hereditary spherocytosis type 5 skos:exactMatch DOID:0110920 hereditary spherocytosis type 5 semapv:UnspecifiedMatching MONDO:0012985 hereditary spherocytosis type 5 skos:exactMatch MEDGEN:436371 semapv:UnspecifiedMatching MONDO:0012985 hereditary spherocytosis type 5 skos:exactMatch OMIM:612690 spherocytosis, type 5 semapv:UnspecifiedMatching MONDO:0012985 hereditary spherocytosis type 5 skos:exactMatch UMLS:C2675192 semapv:UnspecifiedMatching MONDO:0012985 hereditary spherocytosis type 5 skos:exactMatch mesh:C567202 semapv:UnspecifiedMatching MONDO:0012986 bilateral parasagittal parieto-occipital polymicrogyria skos:exactMatch DOID:0080923 bilateral parasagittal parieto-occipital polymicrogyria semapv:UnspecifiedMatching MONDO:0012986 bilateral parasagittal parieto-occipital polymicrogyria skos:exactMatch MEDGEN:862085 semapv:UnspecifiedMatching MONDO:0012986 bilateral parasagittal parieto-occipital polymicrogyria skos:exactMatch OMIM:612691 polymicrogyria, bilateral temporooccipital semapv:UnspecifiedMatching MONDO:0012986 bilateral parasagittal parieto-occipital polymicrogyria skos:exactMatch Orphanet:208441 Bilateral parasagittal parieto-occipital polymicrogyria semapv:UnspecifiedMatching MONDO:0012986 bilateral parasagittal parieto-occipital polymicrogyria skos:exactMatch UMLS:C4013648 semapv:UnspecifiedMatching MONDO:0012986 bilateral parasagittal parieto-occipital polymicrogyria skos:exactMatch icd11.foundation:293410499 Bilateral parasagittal parieto-occipital polymicrogyria semapv:UnspecifiedMatching MONDO:0012986 bilateral parasagittal parieto-occipital polymicrogyria skos:exactMatch mesh:C567201 semapv:UnspecifiedMatching MONDO:0012987 agammaglobulinemia 6, autosomal recessive skos:exactMatch DOID:0081138 agammaglobulinemia 6 semapv:UnspecifiedMatching MONDO:0012987 agammaglobulinemia 6, autosomal recessive skos:exactMatch MEDGEN:461557 semapv:UnspecifiedMatching MONDO:0012987 agammaglobulinemia 6, autosomal recessive skos:exactMatch OMIM:612692 agammaglobulinemia 6, autosomal recessive semapv:UnspecifiedMatching MONDO:0012987 agammaglobulinemia 6, autosomal recessive skos:exactMatch UMLS:C3150207 semapv:UnspecifiedMatching MONDO:0012988 hypogonadotropic hypogonadism 6 with or without anosmia skos:exactMatch DOID:0090086 hypogonadotropic hypogonadism 6 with or without anosmia semapv:UnspecifiedMatching MONDO:0012988 hypogonadotropic hypogonadism 6 with or without anosmia skos:exactMatch MEDGEN:765488 semapv:UnspecifiedMatching MONDO:0012988 hypogonadotropic hypogonadism 6 with or without anosmia skos:exactMatch OMIM:612702 hypogonadotropic hypogonadism 6 with or without anosmia semapv:UnspecifiedMatching MONDO:0012988 hypogonadotropic hypogonadism 6 with or without anosmia skos:exactMatch UMLS:C3552574 semapv:UnspecifiedMatching MONDO:0012988 hypogonadotropic hypogonadism 6 with or without anosmia skos:exactMatch mesh:C567199 semapv:UnspecifiedMatching MONDO:0012989 microcephaly 7, primary, autosomal recessive skos:exactMatch DOID:0070278 primary autosomal recessive microcephaly 7 semapv:UnspecifiedMatching MONDO:0012989 microcephaly 7, primary, autosomal recessive skos:exactMatch MEDGEN:436370 semapv:UnspecifiedMatching MONDO:0012989 microcephaly 7, primary, autosomal recessive skos:exactMatch OMIM:612703 microcephaly 7, primary, autosomal recessive semapv:UnspecifiedMatching MONDO:0012989 microcephaly 7, primary, autosomal recessive skos:exactMatch UMLS:C2675187 semapv:UnspecifiedMatching MONDO:0012989 microcephaly 7, primary, autosomal recessive skos:exactMatch mesh:C567198 semapv:UnspecifiedMatching MONDO:0012990 Leber congenital amaurosis 13 skos:exactMatch DOID:0110330 Leber congenital amaurosis 13 semapv:UnspecifiedMatching MONDO:0012990 Leber congenital amaurosis 13 skos:exactMatch MEDGEN:382544 semapv:UnspecifiedMatching MONDO:0012990 Leber congenital amaurosis 13 skos:exactMatch OMIM:612712 leber congenital amaurosis 13 semapv:UnspecifiedMatching MONDO:0012990 Leber congenital amaurosis 13 skos:exactMatch UMLS:C2675186 semapv:UnspecifiedMatching MONDO:0012990 Leber congenital amaurosis 13 skos:exactMatch mesh:C567197 semapv:UnspecifiedMatching MONDO:0012991 Kahrizi syndrome skos:exactMatch DOID:0050807 Kahrizi syndrome semapv:UnspecifiedMatching MONDO:0012991 Kahrizi syndrome skos:exactMatch MEDGEN:382543 semapv:UnspecifiedMatching MONDO:0012991 Kahrizi syndrome skos:exactMatch OMIM:612713 kahrizi syndrome semapv:UnspecifiedMatching MONDO:0012991 Kahrizi syndrome skos:exactMatch UMLS:C2675185 semapv:UnspecifiedMatching MONDO:0012991 Kahrizi syndrome skos:exactMatch mesh:C567196 semapv:UnspecifiedMatching MONDO:0012992 pancreatic insufficiency-anemia-hyperostosis syndrome skos:exactMatch MEDGEN:436369 semapv:UnspecifiedMatching MONDO:0012992 pancreatic insufficiency-anemia-hyperostosis syndrome skos:exactMatch OMIM:612714 exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis semapv:UnspecifiedMatching MONDO:0012992 pancreatic insufficiency-anemia-hyperostosis syndrome skos:exactMatch Orphanet:199337 Pancreatic insufficiency-anemia-hyperostosis syndrome semapv:UnspecifiedMatching MONDO:0012992 pancreatic insufficiency-anemia-hyperostosis syndrome skos:exactMatch SCTID:722207000 semapv:UnspecifiedMatching MONDO:0012992 pancreatic insufficiency-anemia-hyperostosis syndrome skos:exactMatch UMLS:C2675184 semapv:UnspecifiedMatching MONDO:0012992 pancreatic insufficiency-anemia-hyperostosis syndrome skos:exactMatch mesh:C567195 semapv:UnspecifiedMatching MONDO:0012993 dyschromatosis universalis hereditaria 2 skos:exactMatch MEDGEN:382542 semapv:UnspecifiedMatching MONDO:0012993 dyschromatosis universalis hereditaria 2 skos:exactMatch OMIM:612715 dyschromatosis universalis hereditaria 2 semapv:UnspecifiedMatching MONDO:0012993 dyschromatosis universalis hereditaria 2 skos:exactMatch UMLS:C2675183 semapv:UnspecifiedMatching MONDO:0012993 dyschromatosis universalis hereditaria 2 skos:exactMatch mesh:C567194 semapv:UnspecifiedMatching MONDO:0012994 dopa-responsive dystonia due to sepiapterin reductase deficiency skos:exactMatch DOID:0111168 sepiapterin reductase deficiency semapv:UnspecifiedMatching MONDO:0012994 dopa-responsive dystonia due to sepiapterin reductase deficiency skos:exactMatch MEDGEN:120642 semapv:UnspecifiedMatching MONDO:0012994 dopa-responsive dystonia due to sepiapterin reductase deficiency skos:exactMatch OMIM:612716 dystonia, dopa-responsive, due to sepiapterin reductase deficiency semapv:UnspecifiedMatching MONDO:0012994 dopa-responsive dystonia due to sepiapterin reductase deficiency skos:exactMatch Orphanet:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency semapv:UnspecifiedMatching MONDO:0012994 dopa-responsive dystonia due to sepiapterin reductase deficiency skos:exactMatch SCTID:45116002 semapv:UnspecifiedMatching MONDO:0012994 dopa-responsive dystonia due to sepiapterin reductase deficiency skos:exactMatch UMLS:C0268468 semapv:UnspecifiedMatching MONDO:0012994 dopa-responsive dystonia due to sepiapterin reductase deficiency skos:exactMatch mesh:C562657 semapv:UnspecifiedMatching MONDO:0012995 myopia 15, autosomal dominant skos:exactMatch MEDGEN:393323 semapv:UnspecifiedMatching MONDO:0012995 myopia 15, autosomal dominant skos:exactMatch OMIM:612717 myopia 15, autosomal dominant semapv:UnspecifiedMatching MONDO:0012995 myopia 15, autosomal dominant skos:exactMatch UMLS:C2675180 semapv:UnspecifiedMatching MONDO:0012995 myopia 15, autosomal dominant skos:exactMatch mesh:C567193 semapv:UnspecifiedMatching MONDO:0012996 AGAT deficiency skos:exactMatch DOID:0050712 AGAT deficiency semapv:UnspecifiedMatching MONDO:0012996 AGAT deficiency skos:exactMatch MEDGEN:436367 semapv:UnspecifiedMatching MONDO:0012996 AGAT deficiency skos:exactMatch OMIM:612718 cerebral creatine deficiency syndrome 3 semapv:UnspecifiedMatching MONDO:0012996 AGAT deficiency skos:exactMatch Orphanet:35704 L-Arginine:glycine amidinotransferase deficiency semapv:UnspecifiedMatching MONDO:0012996 AGAT deficiency skos:exactMatch SCTID:702440000 semapv:UnspecifiedMatching MONDO:0012996 AGAT deficiency skos:exactMatch UMLS:C2675179 semapv:UnspecifiedMatching MONDO:0012996 AGAT deficiency skos:exactMatch mesh:C567192 semapv:UnspecifiedMatching MONDO:0012997 cholestasis-pigmentary retinopathy-cleft palate syndrome skos:exactMatch MEDGEN:208652 semapv:UnspecifiedMatching MONDO:0012997 cholestasis-pigmentary retinopathy-cleft palate syndrome skos:exactMatch OMIM:301068 hardikar syndrome semapv:UnspecifiedMatching MONDO:0012997 cholestasis-pigmentary retinopathy-cleft palate syndrome skos:exactMatch Orphanet:1415 Hardikar syndrome semapv:UnspecifiedMatching MONDO:0012997 cholestasis-pigmentary retinopathy-cleft palate syndrome skos:exactMatch SCTID:720636001 semapv:UnspecifiedMatching MONDO:0012997 cholestasis-pigmentary retinopathy-cleft palate syndrome skos:exactMatch UMLS:C0795969 semapv:UnspecifiedMatching MONDO:0012997 cholestasis-pigmentary retinopathy-cleft palate syndrome skos:exactMatch mesh:C535632 semapv:UnspecifiedMatching MONDO:0012998 faciocardiomelic syndrome skos:exactMatch MEDGEN:436265 semapv:UnspecifiedMatching MONDO:0012998 faciocardiomelic syndrome skos:exactMatch OMIM:612731 faciocardiomelic syndrome semapv:UnspecifiedMatching MONDO:0012998 faciocardiomelic syndrome skos:exactMatch UMLS:C2674798 semapv:UnspecifiedMatching MONDO:0012998 faciocardiomelic syndrome skos:exactMatch mesh:C567176 semapv:UnspecifiedMatching MONDO:0012999 guanidinoacetate methyltransferase deficiency skos:exactMatch DOID:0050799 guanidinoacetate methyltransferase deficiency semapv:UnspecifiedMatching MONDO:0012999 guanidinoacetate methyltransferase deficiency skos:exactMatch MEDGEN:154356 semapv:UnspecifiedMatching MONDO:0012999 guanidinoacetate methyltransferase deficiency skos:exactMatch OMIM:612736 cerebral creatine deficiency syndrome 2 semapv:UnspecifiedMatching MONDO:0012999 guanidinoacetate methyltransferase deficiency skos:exactMatch Orphanet:382 Guanidinoacetate methyltransferase deficiency semapv:UnspecifiedMatching MONDO:0012999 guanidinoacetate methyltransferase deficiency skos:exactMatch SCTID:124239003 semapv:UnspecifiedMatching MONDO:0012999 guanidinoacetate methyltransferase deficiency skos:exactMatch UMLS:C0574080 semapv:UnspecifiedMatching MONDO:0012999 guanidinoacetate methyltransferase deficiency skos:exactMatch icd11.foundation:1811642217 Guanidinoacetate methyltransferase deficiency semapv:UnspecifiedMatching MONDO:0012999 guanidinoacetate methyltransferase deficiency skos:exactMatch mesh:C537622 semapv:UnspecifiedMatching MONDO:0013000 porphyria due to ALA dehydratase deficiency skos:exactMatch MEDGEN:78659 semapv:UnspecifiedMatching MONDO:0013000 porphyria due to ALA dehydratase deficiency skos:exactMatch NCIT:C133887 Acute Hepatic Porphyria semapv:UnspecifiedMatching MONDO:0013000 porphyria due to ALA dehydratase deficiency skos:exactMatch OMIM:612740 porphyria, acute hepatic semapv:UnspecifiedMatching MONDO:0013000 porphyria due to ALA dehydratase deficiency skos:exactMatch Orphanet:100924 Porphyria due to ALA dehydratase deficiency semapv:UnspecifiedMatching MONDO:0013000 porphyria due to ALA dehydratase deficiency skos:exactMatch UMLS:C0268328 semapv:UnspecifiedMatching MONDO:0013000 porphyria due to ALA dehydratase deficiency skos:exactMatch mesh:C562618 semapv:UnspecifiedMatching MONDO:0013001 obsolete synesthesia skos:exactMatch OMIM:612759 synesthesia semapv:UnspecifiedMatching MONDO:0013001 obsolete synesthesia skos:exactMatch mesh:C562460 semapv:UnspecifiedMatching MONDO:0013002 cone-rod dystrophy 9 skos:exactMatch DOID:0111020 cone-rod dystrophy 9 semapv:UnspecifiedMatching MONDO:0013002 cone-rod dystrophy 9 skos:exactMatch MEDGEN:244692 semapv:UnspecifiedMatching MONDO:0013002 cone-rod dystrophy 9 skos:exactMatch OMIM:612775 cone-rod dystrophy 9 semapv:UnspecifiedMatching MONDO:0013002 cone-rod dystrophy 9 skos:exactMatch UMLS:C1423873 semapv:UnspecifiedMatching MONDO:0013003 isolated congenital hypoglossia/aglossia skos:exactMatch MEDGEN:411249 semapv:UnspecifiedMatching MONDO:0013003 isolated congenital hypoglossia/aglossia skos:exactMatch OMIM:612776 hypoglossia with situs inversus semapv:UnspecifiedMatching MONDO:0013003 isolated congenital hypoglossia/aglossia skos:exactMatch Orphanet:141152 Isolated congenital hypoglossia/aglossia semapv:UnspecifiedMatching MONDO:0013003 isolated congenital hypoglossia/aglossia skos:exactMatch UMLS:C2748587 semapv:UnspecifiedMatching MONDO:0013004 hypotonia, seizures, and precocious puberty skos:exactMatch MEDGEN:411248 semapv:UnspecifiedMatching MONDO:0013004 hypotonia, seizures, and precocious puberty skos:exactMatch OMIM:612777 hypotonia, seizures, and precocious puberty semapv:UnspecifiedMatching MONDO:0013004 hypotonia, seizures, and precocious puberty skos:exactMatch UMLS:C2748586 semapv:UnspecifiedMatching MONDO:0013004 hypotonia, seizures, and precocious puberty skos:exactMatch mesh:C567566 semapv:UnspecifiedMatching MONDO:0013005 EAST syndrome skos:exactMatch DOID:0060484 EAST syndrome semapv:UnspecifiedMatching MONDO:0013005 EAST syndrome skos:exactMatch MEDGEN:411243 semapv:UnspecifiedMatching MONDO:0013005 EAST syndrome skos:exactMatch OMIM:612780 seizures, sensorineural deafness, ataxia, impaired intellectual development, and electrolyte imbalance semapv:UnspecifiedMatching MONDO:0013005 EAST syndrome skos:exactMatch Orphanet:199343 EAST syndrome semapv:UnspecifiedMatching MONDO:0013005 EAST syndrome skos:exactMatch SCTID:721207002 semapv:UnspecifiedMatching MONDO:0013005 EAST syndrome skos:exactMatch UMLS:C2748572 semapv:UnspecifiedMatching MONDO:0013005 EAST syndrome skos:exactMatch mesh:C557674 semapv:UnspecifiedMatching MONDO:0013006 isolated growth hormone deficiency type IB skos:exactMatch DOID:0060874 isolated growth hormone deficiency type IB semapv:UnspecifiedMatching MONDO:0013006 isolated growth hormone deficiency type IB skos:exactMatch MEDGEN:411242 semapv:UnspecifiedMatching MONDO:0013006 isolated growth hormone deficiency type IB skos:exactMatch OMIM:612781 isolated growth hormone deficiency, type 1b semapv:UnspecifiedMatching MONDO:0013006 isolated growth hormone deficiency type IB skos:exactMatch Orphanet:231671 Isolated growth hormone deficiency type IB semapv:UnspecifiedMatching MONDO:0013006 isolated growth hormone deficiency type IB skos:exactMatch UMLS:C2748571 semapv:UnspecifiedMatching MONDO:0013006 isolated growth hormone deficiency type IB skos:exactMatch mesh:C567564 semapv:UnspecifiedMatching MONDO:0013007 combined immunodeficiency due to ORAI1 deficiency skos:exactMatch DOID:0111976 immunodeficiency 9 semapv:UnspecifiedMatching MONDO:0013007 combined immunodeficiency due to ORAI1 deficiency skos:exactMatch MEDGEN:440578 semapv:UnspecifiedMatching MONDO:0013007 combined immunodeficiency due to ORAI1 deficiency skos:exactMatch OMIM:612782 immunodeficiency 9 semapv:UnspecifiedMatching MONDO:0013007 combined immunodeficiency due to ORAI1 deficiency skos:exactMatch Orphanet:317428 Combined immunodeficiency due to ORAI1 deficiency semapv:UnspecifiedMatching MONDO:0013007 combined immunodeficiency due to ORAI1 deficiency skos:exactMatch UMLS:C2748568 semapv:UnspecifiedMatching MONDO:0013007 combined immunodeficiency due to ORAI1 deficiency skos:exactMatch icd11.foundation:677672007 Combined immunodeficiency due to ORAI1 deficiency semapv:UnspecifiedMatching MONDO:0013007 combined immunodeficiency due to ORAI1 deficiency skos:exactMatch mesh:C557826 semapv:UnspecifiedMatching MONDO:0013008 combined immunodeficiency due to STIM1 deficiency skos:exactMatch DOID:0111970 immunodeficiency 10 semapv:UnspecifiedMatching MONDO:0013008 combined immunodeficiency due to STIM1 deficiency skos:exactMatch MEDGEN:440575 semapv:UnspecifiedMatching MONDO:0013008 combined immunodeficiency due to STIM1 deficiency skos:exactMatch OMIM:612783 immunodeficiency 10 semapv:UnspecifiedMatching MONDO:0013008 combined immunodeficiency due to STIM1 deficiency skos:exactMatch Orphanet:317430 Combined immunodeficiency due to STIM1 deficiency semapv:UnspecifiedMatching MONDO:0013008 combined immunodeficiency due to STIM1 deficiency skos:exactMatch UMLS:C2748557 semapv:UnspecifiedMatching MONDO:0013008 combined immunodeficiency due to STIM1 deficiency skos:exactMatch icd11.foundation:8644198 Combined immunodeficiency due to STIM1 deficiency semapv:UnspecifiedMatching MONDO:0013008 combined immunodeficiency due to STIM1 deficiency skos:exactMatch mesh:C557827 semapv:UnspecifiedMatching MONDO:0013009 Megarbane-Jalkh syndrome skos:exactMatch MEDGEN:412581 semapv:UnspecifiedMatching MONDO:0013009 Megarbane-Jalkh syndrome skos:exactMatch OMIM:612785 megarbane-jalkh syndrome semapv:UnspecifiedMatching MONDO:0013009 Megarbane-Jalkh syndrome skos:exactMatch UMLS:C2748555 semapv:UnspecifiedMatching MONDO:0013009 Megarbane-Jalkh syndrome skos:exactMatch mesh:C548071 semapv:UnspecifiedMatching MONDO:0013010 autosomal recessive nonsyndromic hearing loss 71 skos:exactMatch DOID:0110522 autosomal recessive nonsyndromic deafness 71 semapv:UnspecifiedMatching MONDO:0013010 autosomal recessive nonsyndromic hearing loss 71 skos:exactMatch MEDGEN:411609 semapv:UnspecifiedMatching MONDO:0013010 autosomal recessive nonsyndromic hearing loss 71 skos:exactMatch OMIM:612789 deafness, autosomal recessive 71 semapv:UnspecifiedMatching MONDO:0013010 autosomal recessive nonsyndromic hearing loss 71 skos:exactMatch UMLS:C2748554 semapv:UnspecifiedMatching MONDO:0013010 autosomal recessive nonsyndromic hearing loss 71 skos:exactMatch mesh:C567562 semapv:UnspecifiedMatching MONDO:0013011 atrial septal defect 5 skos:exactMatch DOID:0110110 atrial heart septal defect 5 semapv:UnspecifiedMatching MONDO:0013011 atrial septal defect 5 skos:exactMatch MEDGEN:412580 semapv:UnspecifiedMatching MONDO:0013011 atrial septal defect 5 skos:exactMatch OMIM:612794 atrial septal defect 5 semapv:UnspecifiedMatching MONDO:0013011 atrial septal defect 5 skos:exactMatch UMLS:C2748552 semapv:UnspecifiedMatching MONDO:0013011 atrial septal defect 5 skos:exactMatch mesh:C567561 semapv:UnspecifiedMatching MONDO:0013012 inflammatory bowel disease 27 skos:exactMatch DOID:0110902 inflammatory bowel disease 27 semapv:UnspecifiedMatching MONDO:0013012 inflammatory bowel disease 27 skos:exactMatch MEDGEN:412579 semapv:UnspecifiedMatching MONDO:0013012 inflammatory bowel disease 27 skos:exactMatch OMIM:612796 inflammatory bowel disease 27 semapv:UnspecifiedMatching MONDO:0013012 inflammatory bowel disease 27 skos:exactMatch UMLS:C2748550 semapv:UnspecifiedMatching MONDO:0013012 inflammatory bowel disease 27 skos:exactMatch mesh:C567559 semapv:UnspecifiedMatching MONDO:0013013 question mark ears, isolated skos:exactMatch MEDGEN:411238 semapv:UnspecifiedMatching MONDO:0013013 question mark ears, isolated skos:exactMatch OMIM:612798 question mark ears, isolated semapv:UnspecifiedMatching MONDO:0013013 question mark ears, isolated skos:exactMatch UMLS:C2748545 semapv:UnspecifiedMatching MONDO:0013014 spondyloepimetaphyseal dysplasia, aggrecan type skos:exactMatch MEDGEN:411237 semapv:UnspecifiedMatching MONDO:0013014 spondyloepimetaphyseal dysplasia, aggrecan type skos:exactMatch OMIM:612813 spondyloepimetaphyseal dysplasia, aggrecan type semapv:UnspecifiedMatching MONDO:0013014 spondyloepimetaphyseal dysplasia, aggrecan type skos:exactMatch Orphanet:171866 Spondyloepimetaphyseal dysplasia, aggrecan type semapv:UnspecifiedMatching MONDO:0013014 spondyloepimetaphyseal dysplasia, aggrecan type skos:exactMatch SCTID:719165004 semapv:UnspecifiedMatching MONDO:0013014 spondyloepimetaphyseal dysplasia, aggrecan type skos:exactMatch UMLS:C2748544 semapv:UnspecifiedMatching MONDO:0013014 spondyloepimetaphyseal dysplasia, aggrecan type skos:exactMatch icd11.foundation:1133152894 Spondyloepimetaphyseal dysplasia, aggrecan type semapv:UnspecifiedMatching MONDO:0013014 spondyloepimetaphyseal dysplasia, aggrecan type skos:exactMatch mesh:C567558 semapv:UnspecifiedMatching MONDO:0013015 Brugada syndrome 5 skos:exactMatch DOID:0110222 Brugada syndrome 5 semapv:UnspecifiedMatching MONDO:0013015 Brugada syndrome 5 skos:exactMatch MEDGEN:411607 semapv:UnspecifiedMatching MONDO:0013015 Brugada syndrome 5 skos:exactMatch OMIM:612838 brugada syndrome 5 semapv:UnspecifiedMatching MONDO:0013015 Brugada syndrome 5 skos:exactMatch UMLS:C2748541 semapv:UnspecifiedMatching MONDO:0013016 leukocyte adhesion deficiency 3 skos:exactMatch DOID:0110912 leukocyte adhesion deficiency 3 semapv:UnspecifiedMatching MONDO:0013016 leukocyte adhesion deficiency 3 skos:exactMatch MEDGEN:411605 semapv:UnspecifiedMatching MONDO:0013016 leukocyte adhesion deficiency 3 skos:exactMatch OMIM:612840 leukocyte adhesion deficiency, type 3 semapv:UnspecifiedMatching MONDO:0013016 leukocyte adhesion deficiency 3 skos:exactMatch Orphanet:99844 Leukocyte adhesion deficiency type III semapv:UnspecifiedMatching MONDO:0013016 leukocyte adhesion deficiency 3 skos:exactMatch UMLS:C2748536 semapv:UnspecifiedMatching MONDO:0013016 leukocyte adhesion deficiency 3 skos:exactMatch mesh:C567555 semapv:UnspecifiedMatching MONDO:0013017 hypotrichosis 5 skos:exactMatch DOID:0110702 hypotrichosis 5 semapv:UnspecifiedMatching MONDO:0013017 hypotrichosis 5 skos:exactMatch MEDGEN:440568 semapv:UnspecifiedMatching MONDO:0013017 hypotrichosis 5 skos:exactMatch OMIM:612841 hypotrichosis 5 semapv:UnspecifiedMatching MONDO:0013017 hypotrichosis 5 skos:exactMatch UMLS:C2748535 semapv:UnspecifiedMatching MONDO:0013017 hypotrichosis 5 skos:exactMatch mesh:C567554 semapv:UnspecifiedMatching MONDO:0013018 keratosis follicularis spinulosa decalvans, autosomal dominant skos:exactMatch DOID:0080755 autosomal dominant keratosis follicularis spinulosa decalvans semapv:UnspecifiedMatching MONDO:0013018 keratosis follicularis spinulosa decalvans, autosomal dominant skos:exactMatch MEDGEN:412573 semapv:UnspecifiedMatching MONDO:0013018 keratosis follicularis spinulosa decalvans, autosomal dominant skos:exactMatch OMIM:612843 keratosis follicularis spinulosa decalvans, autosomal dominant semapv:UnspecifiedMatching MONDO:0013018 keratosis follicularis spinulosa decalvans, autosomal dominant skos:exactMatch UMLS:C2748527 semapv:UnspecifiedMatching MONDO:0013018 keratosis follicularis spinulosa decalvans, autosomal dominant skos:exactMatch mesh:C567553 semapv:UnspecifiedMatching MONDO:0013020 narcolepsy 5, susceptibility to skos:exactMatch MEDGEN:440562 semapv:UnspecifiedMatching MONDO:0013020 narcolepsy 5, susceptibility to skos:exactMatch OMIM:612851 narcolepsy 5, susceptibility to semapv:UnspecifiedMatching MONDO:0013020 narcolepsy 5, susceptibility to skos:exactMatch UMLS:C2748508 semapv:UnspecifiedMatching MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis skos:exactMatch DOID:0061225 interleukin-1 receptor antagonist deficiency semapv:UnspecifiedMatching MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis skos:exactMatch MEDGEN:411230 semapv:UnspecifiedMatching MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis skos:exactMatch NCIT:C119056 Deficiency of the Interleukin-1 Receptor Antagonist semapv:UnspecifiedMatching MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis skos:exactMatch OMIM:612852 chronic recurrent multifocal osteomyelitis 2, with periostitis and pustulosis semapv:UnspecifiedMatching MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis skos:exactMatch Orphanet:210115 Sterile multifocal osteomyelitis with periostitis and pustulosis semapv:UnspecifiedMatching MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis skos:exactMatch UMLS:C2748507 semapv:UnspecifiedMatching MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis skos:exactMatch mesh:C557815 semapv:UnspecifiedMatching MONDO:0013022 restless legs syndrome, susceptibility to, 7 skos:exactMatch MEDGEN:440561 semapv:UnspecifiedMatching MONDO:0013022 restless legs syndrome, susceptibility to, 7 skos:exactMatch OMIM:612853 restless legs syndrome, susceptibility to, 7 semapv:UnspecifiedMatching MONDO:0013022 restless legs syndrome, susceptibility to, 7 skos:exactMatch UMLS:C2748506 semapv:UnspecifiedMatching MONDO:0013023 orofacial cleft 12 skos:exactMatch DOID:0080405 orofacial cleft 12 semapv:UnspecifiedMatching MONDO:0013023 orofacial cleft 12 skos:exactMatch MEDGEN:411596 semapv:UnspecifiedMatching MONDO:0013023 orofacial cleft 12 skos:exactMatch OMIM:612858 orofacial cleft 12 semapv:UnspecifiedMatching MONDO:0013023 orofacial cleft 12 skos:exactMatch UMLS:C2748505 semapv:UnspecifiedMatching MONDO:0013023 orofacial cleft 12 skos:exactMatch mesh:C567548 semapv:UnspecifiedMatching MONDO:0013024 chronic thromboembolic pulmonary hypertension skos:exactMatch ICD10CM:I27.24 Chronic thromboembolic pulmonary hypertension semapv:UnspecifiedMatching MONDO:0013024 chronic thromboembolic pulmonary hypertension skos:exactMatch MEDGEN:440560 semapv:UnspecifiedMatching MONDO:0013024 chronic thromboembolic pulmonary hypertension skos:exactMatch OMIM:612862 pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis, susceptibility to semapv:UnspecifiedMatching MONDO:0013024 chronic thromboembolic pulmonary hypertension skos:exactMatch Orphanet:70591 Chronic thromboembolic pulmonary hypertension semapv:UnspecifiedMatching MONDO:0013024 chronic thromboembolic pulmonary hypertension skos:exactMatch SCTID:233947005 semapv:UnspecifiedMatching MONDO:0013024 chronic thromboembolic pulmonary hypertension skos:exactMatch UMLS:C2748504 semapv:UnspecifiedMatching MONDO:0013024 chronic thromboembolic pulmonary hypertension skos:exactMatch icd11.foundation:1567490107 Chronic thromboembolic pulmonary hypertension semapv:UnspecifiedMatching MONDO:0013025 chromosome 6q24-q25 deletion syndrome skos:exactMatch DOID:0060424 chromosome 6q24-q25 deletion syndrome semapv:UnspecifiedMatching MONDO:0013025 chromosome 6q24-q25 deletion syndrome skos:exactMatch MEDGEN:461565 semapv:UnspecifiedMatching MONDO:0013025 chromosome 6q24-q25 deletion syndrome skos:exactMatch OMIM:612863 chromosome 6q24-q25 deletion syndrome semapv:UnspecifiedMatching MONDO:0013025 chromosome 6q24-q25 deletion syndrome skos:exactMatch Orphanet:251056 6q25.2q25.3 microdeletion syndrome semapv:UnspecifiedMatching MONDO:0013025 chromosome 6q24-q25 deletion syndrome skos:exactMatch SCTID:719663005 semapv:UnspecifiedMatching MONDO:0013025 chromosome 6q24-q25 deletion syndrome skos:exactMatch UMLS:C3150215 semapv:UnspecifiedMatching MONDO:0013026 subepithelial mucinous corneal dystrophy skos:exactMatch DOID:0060454 subepithelial mucinous corneal dystrophy semapv:UnspecifiedMatching MONDO:0013026 subepithelial mucinous corneal dystrophy skos:exactMatch MEDGEN:411595 semapv:UnspecifiedMatching MONDO:0013026 subepithelial mucinous corneal dystrophy skos:exactMatch OMIM:612867 corneal dystrophy, subepithelial mucinous semapv:UnspecifiedMatching MONDO:0013026 subepithelial mucinous corneal dystrophy skos:exactMatch Orphanet:98959 Subepithelial mucinous corneal dystrophy semapv:UnspecifiedMatching MONDO:0013026 subepithelial mucinous corneal dystrophy skos:exactMatch SCTID:723582004 semapv:UnspecifiedMatching MONDO:0013026 subepithelial mucinous corneal dystrophy skos:exactMatch UMLS:C2748503 semapv:UnspecifiedMatching MONDO:0013026 subepithelial mucinous corneal dystrophy skos:exactMatch icd11.foundation:943706174 Subepithelial mucinous corneal dystrophy semapv:UnspecifiedMatching MONDO:0013026 subepithelial mucinous corneal dystrophy skos:exactMatch mesh:C567547 semapv:UnspecifiedMatching MONDO:0013027 posterior amorphous corneal dystrophy skos:exactMatch DOID:0060452 posterior amorphous corneal dystrophy semapv:UnspecifiedMatching MONDO:0013027 posterior amorphous corneal dystrophy skos:exactMatch MEDGEN:412567 semapv:UnspecifiedMatching MONDO:0013027 posterior amorphous corneal dystrophy skos:exactMatch OMIM:612868 corneal dystrophy, posterior amorphous semapv:UnspecifiedMatching MONDO:0013027 posterior amorphous corneal dystrophy skos:exactMatch Orphanet:98971 Posterior amorphous corneal dystrophy semapv:UnspecifiedMatching MONDO:0013027 posterior amorphous corneal dystrophy skos:exactMatch SCTID:719296002 semapv:UnspecifiedMatching MONDO:0013027 posterior amorphous corneal dystrophy skos:exactMatch UMLS:C2748502 semapv:UnspecifiedMatching MONDO:0013027 posterior amorphous corneal dystrophy skos:exactMatch icd11.foundation:347556972 Posterior amorphous corneal dystrophy semapv:UnspecifiedMatching MONDO:0013027 posterior amorphous corneal dystrophy skos:exactMatch mesh:C567546 semapv:UnspecifiedMatching MONDO:0013028 adenosine monophosphate deaminase deficiency skos:exactMatch ICD10CM:E79.2 Myoadenylate deaminase deficiency semapv:UnspecifiedMatching MONDO:0013028 adenosine monophosphate deaminase deficiency skos:exactMatch MEDGEN:444140 semapv:UnspecifiedMatching MONDO:0013028 adenosine monophosphate deaminase deficiency skos:exactMatch Orphanet:45 Adenosine monophosphate deaminase deficiency semapv:UnspecifiedMatching MONDO:0013028 adenosine monophosphate deaminase deficiency skos:exactMatch SCTID:9105005 semapv:UnspecifiedMatching MONDO:0013028 adenosine monophosphate deaminase deficiency skos:exactMatch UMLS:C2931781 semapv:UnspecifiedMatching MONDO:0013028 adenosine monophosphate deaminase deficiency skos:exactMatch icd11.foundation:550341491 Adenosine monophosphate deaminase deficiency semapv:UnspecifiedMatching MONDO:0013028 adenosine monophosphate deaminase deficiency skos:exactMatch mesh:C538234 semapv:UnspecifiedMatching MONDO:0013029 spinocerebellar ataxia 9 skos:exactMatch DOID:0111747 cerebellar ataxia type 9 semapv:UnspecifiedMatching MONDO:0013029 spinocerebellar ataxia 9 skos:exactMatch MEDGEN:854704 semapv:UnspecifiedMatching MONDO:0013029 spinocerebellar ataxia 9 skos:exactMatch OMIM:612876 spinocerebellar ataxia 9 semapv:UnspecifiedMatching MONDO:0013029 spinocerebellar ataxia 9 skos:exactMatch UMLS:C3887996 semapv:UnspecifiedMatching MONDO:0013030 dilated cardiomyopathy 1BB skos:exactMatch DOID:0110458 dilated cardiomyopathy 1BB semapv:UnspecifiedMatching MONDO:0013030 dilated cardiomyopathy 1BB skos:exactMatch MEDGEN:414552 semapv:UnspecifiedMatching MONDO:0013030 dilated cardiomyopathy 1BB skos:exactMatch OMIM:612877 cardiomyopathy, dilated, 1bb semapv:UnspecifiedMatching MONDO:0013030 dilated cardiomyopathy 1BB skos:exactMatch UMLS:C2752072 semapv:UnspecifiedMatching MONDO:0013030 dilated cardiomyopathy 1BB skos:exactMatch mesh:C567877 semapv:UnspecifiedMatching MONDO:0013031 chromosome 5Q14.3 deletion syndrome, distal skos:exactMatch MEDGEN:442882 semapv:UnspecifiedMatching MONDO:0013031 chromosome 5Q14.3 deletion syndrome, distal skos:exactMatch OMIM:612881 chromosome 5q14.3 deletion syndrome, distal semapv:UnspecifiedMatching MONDO:0013031 chromosome 5Q14.3 deletion syndrome, distal skos:exactMatch UMLS:C2752071 semapv:UnspecifiedMatching MONDO:0013031 chromosome 5Q14.3 deletion syndrome, distal skos:exactMatch mesh:C567876 semapv:UnspecifiedMatching MONDO:0013032 epilepsy, idiopathic generalized, susceptibility to, 8 skos:exactMatch MEDGEN:414549 semapv:UnspecifiedMatching MONDO:0013032 epilepsy, idiopathic generalized, susceptibility to, 8 skos:exactMatch OMIM:612899 epilepsy, idiopathic generalized, susceptibility to, 8 semapv:UnspecifiedMatching MONDO:0013032 epilepsy, idiopathic generalized, susceptibility to, 8 skos:exactMatch UMLS:C2752062 semapv:UnspecifiedMatching MONDO:0013033 cerebral palsy, spastic quadriplegic, 2 skos:exactMatch DOID:0081360 spastic quadriplegic cerebral palsy 2 semapv:UnspecifiedMatching MONDO:0013033 cerebral palsy, spastic quadriplegic, 2 skos:exactMatch MEDGEN:442880 semapv:UnspecifiedMatching MONDO:0013033 cerebral palsy, spastic quadriplegic, 2 skos:exactMatch OMIM:612900 cerebral palsy, spastic quadriplegic, 2 semapv:UnspecifiedMatching MONDO:0013033 cerebral palsy, spastic quadriplegic, 2 skos:exactMatch UMLS:C2752061 semapv:UnspecifiedMatching MONDO:0013033 cerebral palsy, spastic quadriplegic, 2 skos:exactMatch mesh:C567867 semapv:UnspecifiedMatching MONDO:0013034 keratosis palmoplantaris striata 2 skos:exactMatch DOID:0081109 keratosis palmoplantaris striata 2 semapv:UnspecifiedMatching MONDO:0013034 keratosis palmoplantaris striata 2 skos:exactMatch MEDGEN:343725 semapv:UnspecifiedMatching MONDO:0013034 keratosis palmoplantaris striata 2 skos:exactMatch OMIM:612908 keratosis palmoplantaris striata 2 semapv:UnspecifiedMatching MONDO:0013034 keratosis palmoplantaris striata 2 skos:exactMatch UMLS:C1852127 semapv:UnspecifiedMatching MONDO:0013034 keratosis palmoplantaris striata 2 skos:exactMatch mesh:C565102 semapv:UnspecifiedMatching MONDO:0013035 orofaciodigital syndrome XI skos:exactMatch DOID:0060381 orofaciodigital syndrome XI semapv:UnspecifiedMatching MONDO:0013035 orofaciodigital syndrome XI skos:exactMatch MEDGEN:416694 semapv:UnspecifiedMatching MONDO:0013035 orofaciodigital syndrome XI skos:exactMatch OMIM:612913 orofaciodigital syndrome 11 semapv:UnspecifiedMatching MONDO:0013035 orofaciodigital syndrome XI skos:exactMatch Orphanet:141000 Orofaciodigital syndrome type 11 semapv:UnspecifiedMatching MONDO:0013035 orofaciodigital syndrome XI skos:exactMatch SCTID:718681002 semapv:UnspecifiedMatching MONDO:0013035 orofaciodigital syndrome XI skos:exactMatch UMLS:C2752048 semapv:UnspecifiedMatching MONDO:0013035 orofaciodigital syndrome XI skos:exactMatch mesh:C557821 semapv:UnspecifiedMatching MONDO:0013036 Zechi-Ceide syndrome skos:exactMatch MEDGEN:416693 semapv:UnspecifiedMatching MONDO:0013036 Zechi-Ceide syndrome skos:exactMatch OMIM:612916 zechi-ceide syndrome semapv:UnspecifiedMatching MONDO:0013036 Zechi-Ceide syndrome skos:exactMatch Orphanet:217017 Zechi-Ceide syndrome semapv:UnspecifiedMatching MONDO:0013036 Zechi-Ceide syndrome skos:exactMatch UMLS:C2752047 semapv:UnspecifiedMatching MONDO:0013036 Zechi-Ceide syndrome skos:exactMatch mesh:C567865 semapv:UnspecifiedMatching MONDO:0013037 Giacheti syndrome skos:exactMatch MEDGEN:414543 semapv:UnspecifiedMatching MONDO:0013037 Giacheti syndrome skos:exactMatch OMIM:612917 giacheti syndrome semapv:UnspecifiedMatching MONDO:0013037 Giacheti syndrome skos:exactMatch UMLS:C2752043 semapv:UnspecifiedMatching MONDO:0013037 Giacheti syndrome skos:exactMatch mesh:C567864 semapv:UnspecifiedMatching MONDO:0013038 CLOVES syndrome skos:exactMatch DOID:0080351 CLOVES syndrome semapv:UnspecifiedMatching MONDO:0013038 CLOVES syndrome skos:exactMatch MEDGEN:442876 semapv:UnspecifiedMatching MONDO:0013038 CLOVES syndrome skos:exactMatch NCIT:C177122 Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, and Skeletal/Spinal Abnormalities Syndrome semapv:UnspecifiedMatching MONDO:0013038 CLOVES syndrome skos:exactMatch OMIM:612918 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi semapv:UnspecifiedMatching MONDO:0013038 CLOVES syndrome skos:exactMatch Orphanet:140944 CLOVES syndrome semapv:UnspecifiedMatching MONDO:0013038 CLOVES syndrome skos:exactMatch SCTID:719475006 semapv:UnspecifiedMatching MONDO:0013038 CLOVES syndrome skos:exactMatch UMLS:C2752042 semapv:UnspecifiedMatching MONDO:0013038 CLOVES syndrome skos:exactMatch mesh:C567863 semapv:UnspecifiedMatching MONDO:0013039 3M syndrome 2 skos:exactMatch MEDGEN:414168 semapv:UnspecifiedMatching MONDO:0013039 3M syndrome 2 skos:exactMatch OMIM:612921 three m syndrome 2 semapv:UnspecifiedMatching MONDO:0013039 3M syndrome 2 skos:exactMatch UMLS:C2752041 semapv:UnspecifiedMatching MONDO:0013039 3M syndrome 2 skos:exactMatch mesh:C567862 semapv:UnspecifiedMatching MONDO:0013040 atypical hemolytic-uremic syndrome with MCP/CD46 anomaly skos:exactMatch MEDGEN:414167 semapv:UnspecifiedMatching MONDO:0013040 atypical hemolytic-uremic syndrome with MCP/CD46 anomaly skos:exactMatch OMIM:612922 hemolytic uremic syndrome, atypical, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0013040 atypical hemolytic-uremic syndrome with MCP/CD46 anomaly skos:exactMatch UMLS:C2752040 semapv:UnspecifiedMatching MONDO:0013041 atypical hemolytic-uremic syndrome with I factor anomaly skos:exactMatch MEDGEN:414542 semapv:UnspecifiedMatching MONDO:0013041 atypical hemolytic-uremic syndrome with I factor anomaly skos:exactMatch OMIM:612923 hemolytic uremic syndrome, atypical, susceptibility to, 3 semapv:UnspecifiedMatching MONDO:0013041 atypical hemolytic-uremic syndrome with I factor anomaly skos:exactMatch UMLS:C2752039 semapv:UnspecifiedMatching MONDO:0013042 atypical hemolytic-uremic syndrome with B factor anomaly skos:exactMatch MEDGEN:416691 semapv:UnspecifiedMatching MONDO:0013042 atypical hemolytic-uremic syndrome with B factor anomaly skos:exactMatch OMIM:612924 hemolytic uremic syndrome, atypical, susceptibility to, 4 semapv:UnspecifiedMatching MONDO:0013042 atypical hemolytic-uremic syndrome with B factor anomaly skos:exactMatch UMLS:C2752038 semapv:UnspecifiedMatching MONDO:0013043 atypical hemolytic-uremic syndrome with C3 anomaly skos:exactMatch MEDGEN:442875 semapv:UnspecifiedMatching MONDO:0013043 atypical hemolytic-uremic syndrome with C3 anomaly skos:exactMatch OMIM:612925 hemolytic uremic syndrome, atypical, susceptibility to, 5 semapv:UnspecifiedMatching MONDO:0013043 atypical hemolytic-uremic syndrome with C3 anomaly skos:exactMatch UMLS:C2752037 semapv:UnspecifiedMatching MONDO:0013044 atypical hemolytic-uremic syndrome with thrombomodulin anomaly skos:exactMatch MEDGEN:414541 semapv:UnspecifiedMatching MONDO:0013044 atypical hemolytic-uremic syndrome with thrombomodulin anomaly skos:exactMatch OMIM:612926 hemolytic uremic syndrome, atypical, susceptibility to, 6 semapv:UnspecifiedMatching MONDO:0013044 atypical hemolytic-uremic syndrome with thrombomodulin anomaly skos:exactMatch UMLS:C2752036 semapv:UnspecifiedMatching MONDO:0013045 Mycobacterium tuberculosis, susceptibility to, 3 skos:exactMatch MEDGEN:416690 semapv:UnspecifiedMatching MONDO:0013045 Mycobacterium tuberculosis, susceptibility to, 3 skos:exactMatch OMIM:612929 mycobacterium tuberculosis, susceptibility to, 3 semapv:UnspecifiedMatching MONDO:0013045 Mycobacterium tuberculosis, susceptibility to, 3 skos:exactMatch UMLS:C2752035 semapv:UnspecifiedMatching MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency skos:exactMatch MEDGEN:442873 semapv:UnspecifiedMatching MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency skos:exactMatch OMIM:612932 glycogen storage disease 13 semapv:UnspecifiedMatching MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency skos:exactMatch Orphanet:99849 Glycogen storage disease due to muscle beta-enolase deficiency semapv:UnspecifiedMatching MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency skos:exactMatch UMLS:C2752027 semapv:UnspecifiedMatching MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency skos:exactMatch icd11.foundation:821809975 Glycogen storage disease due to muscle beta-enolase deficiency semapv:UnspecifiedMatching MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency skos:exactMatch mesh:C567861 semapv:UnspecifiedMatching MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency skos:exactMatch MEDGEN:419152 semapv:UnspecifiedMatching MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency skos:exactMatch OMIM:612933 glycogen storage disease 11 semapv:UnspecifiedMatching MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency skos:exactMatch Orphanet:284426 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency semapv:UnspecifiedMatching MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency skos:exactMatch SCTID:237982007 semapv:UnspecifiedMatching MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency skos:exactMatch UMLS:C2931743 semapv:UnspecifiedMatching MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency skos:exactMatch mesh:C538133 semapv:UnspecifiedMatching MONDO:0013048 hereditary spastic paraplegia 50 skos:exactMatch DOID:0110802 hereditary spastic paraplegia 50 semapv:UnspecifiedMatching MONDO:0013048 hereditary spastic paraplegia 50 skos:exactMatch MEDGEN:442869 semapv:UnspecifiedMatching MONDO:0013048 hereditary spastic paraplegia 50 skos:exactMatch OMIM:612936 spastic paraplegia 50, autosomal recessive semapv:UnspecifiedMatching MONDO:0013048 hereditary spastic paraplegia 50 skos:exactMatch UMLS:C2752008 semapv:UnspecifiedMatching MONDO:0013048 hereditary spastic paraplegia 50 skos:exactMatch mesh:C567858 semapv:UnspecifiedMatching MONDO:0013049 DPM3-congenital disorder of glycosylation skos:exactMatch MEDGEN:414534 semapv:UnspecifiedMatching MONDO:0013049 DPM3-congenital disorder of glycosylation skos:exactMatch OMIM:612937 muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 15 semapv:UnspecifiedMatching MONDO:0013049 DPM3-congenital disorder of glycosylation skos:exactMatch Orphanet:263494 DPM3-CDG semapv:UnspecifiedMatching MONDO:0013049 DPM3-congenital disorder of glycosylation skos:exactMatch SCTID:725044000 semapv:UnspecifiedMatching MONDO:0013049 DPM3-congenital disorder of glycosylation skos:exactMatch UMLS:C2752007 semapv:UnspecifiedMatching MONDO:0013049 DPM3-congenital disorder of glycosylation skos:exactMatch mesh:C567857 semapv:UnspecifiedMatching MONDO:0013050 lethal polymalformative syndrome, Boissel type skos:exactMatch MEDGEN:414158 semapv:UnspecifiedMatching MONDO:0013050 lethal polymalformative syndrome, Boissel type skos:exactMatch OMIM:612938 growth retardation, developmental delay, and facial dysmorphism semapv:UnspecifiedMatching MONDO:0013050 lethal polymalformative syndrome, Boissel type skos:exactMatch Orphanet:210144 Lethal polymalformative syndrome, Boissel type semapv:UnspecifiedMatching MONDO:0013050 lethal polymalformative syndrome, Boissel type skos:exactMatch UMLS:C2752001 semapv:UnspecifiedMatching MONDO:0013050 lethal polymalformative syndrome, Boissel type skos:exactMatch mesh:C567856 semapv:UnspecifiedMatching MONDO:0013051 autosomal recessive cutis laxa type 2B skos:exactMatch DOID:0070137 autosomal recessive cutis laxa type IIB semapv:UnspecifiedMatching MONDO:0013051 autosomal recessive cutis laxa type 2B skos:exactMatch MEDGEN:414526 semapv:UnspecifiedMatching MONDO:0013051 autosomal recessive cutis laxa type 2B skos:exactMatch OMIM:612940 cutis laxa, autosomal recessive, type 2b semapv:UnspecifiedMatching MONDO:0013051 autosomal recessive cutis laxa type 2B skos:exactMatch Orphanet:357064 Autosomal recessive cutis laxa type 2B semapv:UnspecifiedMatching MONDO:0013051 autosomal recessive cutis laxa type 2B skos:exactMatch UMLS:C2751987 semapv:UnspecifiedMatching MONDO:0013051 autosomal recessive cutis laxa type 2B skos:exactMatch mesh:C567855 semapv:UnspecifiedMatching MONDO:0013052 retinitis pigmentosa 42 skos:exactMatch DOID:0110386 retinitis pigmentosa 42 semapv:UnspecifiedMatching MONDO:0013052 retinitis pigmentosa 42 skos:exactMatch MEDGEN:442864 semapv:UnspecifiedMatching MONDO:0013052 retinitis pigmentosa 42 skos:exactMatch OMIM:612943 retinitis pigmentosa 42 semapv:UnspecifiedMatching MONDO:0013052 retinitis pigmentosa 42 skos:exactMatch UMLS:C2751986 semapv:UnspecifiedMatching MONDO:0013052 retinitis pigmentosa 42 skos:exactMatch mesh:C567854 semapv:UnspecifiedMatching MONDO:0013053 microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type skos:exactMatch MEDGEN:414129 semapv:UnspecifiedMatching MONDO:0013053 microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type skos:exactMatch OMIM:612946 hadziselimovic syndrome semapv:UnspecifiedMatching MONDO:0013053 microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type skos:exactMatch Orphanet:217026 Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type semapv:UnspecifiedMatching MONDO:0013053 microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type skos:exactMatch SCTID:719395001 semapv:UnspecifiedMatching MONDO:0013053 microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type skos:exactMatch UMLS:C2751878 semapv:UnspecifiedMatching MONDO:0013053 microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type skos:exactMatch mesh:C567850 semapv:UnspecifiedMatching MONDO:0013054 microcephaly, growth retardation, cataract, hearing loss, and unusual appearance skos:exactMatch MEDGEN:416652 semapv:UnspecifiedMatching MONDO:0013054 microcephaly, growth retardation, cataract, hearing loss, and unusual appearance skos:exactMatch OMIM:612947 microcephaly, growth retardation, cataract, hearing loss, and unusual appearance semapv:UnspecifiedMatching MONDO:0013054 microcephaly, growth retardation, cataract, hearing loss, and unusual appearance skos:exactMatch UMLS:C2751870 semapv:UnspecifiedMatching MONDO:0013054 microcephaly, growth retardation, cataract, hearing loss, and unusual appearance skos:exactMatch mesh:C567849 semapv:UnspecifiedMatching MONDO:0013055 Stargardt macular degeneration, absent or hypoplastic corpus callosum, intellectual disability, and dysmorphic features skos:exactMatch MEDGEN:1680314 semapv:UnspecifiedMatching MONDO:0013055 Stargardt macular degeneration, absent or hypoplastic corpus callosum, intellectual disability, and dysmorphic features skos:exactMatch OMIM:612948 stargardt macular degeneration, absent or hypoplastic corpus callosum, impaired intellectual development, and dysmorphic facial features semapv:UnspecifiedMatching MONDO:0013055 Stargardt macular degeneration, absent or hypoplastic corpus callosum, intellectual disability, and dysmorphic features skos:exactMatch UMLS:C5193232 semapv:UnspecifiedMatching MONDO:0013055 Stargardt macular degeneration, absent or hypoplastic corpus callosum, intellectual disability, and dysmorphic features skos:exactMatch mesh:C548086 semapv:UnspecifiedMatching MONDO:0013056 developmental and epileptic encephalopathy, 39 skos:exactMatch DOID:0080349 developmental and epileptic encephalopathy 39 semapv:UnspecifiedMatching MONDO:0013056 developmental and epileptic encephalopathy, 39 skos:exactMatch MEDGEN:414492 semapv:UnspecifiedMatching MONDO:0013056 developmental and epileptic encephalopathy, 39 skos:exactMatch OMIM:612949 developmental and epileptic encephalopathy 39 with leukodystrophy semapv:UnspecifiedMatching MONDO:0013056 developmental and epileptic encephalopathy, 39 skos:exactMatch Orphanet:353217 Epileptic encephalopathy with global cerebral demyelination semapv:UnspecifiedMatching MONDO:0013056 developmental and epileptic encephalopathy, 39 skos:exactMatch SCTID:726702005 semapv:UnspecifiedMatching MONDO:0013056 developmental and epileptic encephalopathy, 39 skos:exactMatch UMLS:C2751855 semapv:UnspecifiedMatching MONDO:0013056 developmental and epileptic encephalopathy, 39 skos:exactMatch mesh:C567847 semapv:UnspecifiedMatching MONDO:0013057 psoriasis 12, susceptibility to skos:exactMatch DOID:0111291 psoriasis 12 semapv:UnspecifiedMatching MONDO:0013057 psoriasis 12, susceptibility to skos:exactMatch MEDGEN:414124 semapv:UnspecifiedMatching MONDO:0013057 psoriasis 12, susceptibility to skos:exactMatch OMIM:612950 psoriasis 12, susceptibility to semapv:UnspecifiedMatching MONDO:0013057 psoriasis 12, susceptibility to skos:exactMatch UMLS:C2751854 semapv:UnspecifiedMatching MONDO:0013058 cystic leukoencephalopathy without megalencephaly skos:exactMatch DOID:0081007 RNASET2-deficient cystic leukoencephalopathy semapv:UnspecifiedMatching MONDO:0013058 cystic leukoencephalopathy without megalencephaly skos:exactMatch MEDGEN:416646 semapv:UnspecifiedMatching MONDO:0013058 cystic leukoencephalopathy without megalencephaly skos:exactMatch OMIM:612951 leukoencephalopathy, cystic, without megalencephaly semapv:UnspecifiedMatching MONDO:0013058 cystic leukoencephalopathy without megalencephaly skos:exactMatch Orphanet:85136 Cystic leukoencephalopathy without megalencephaly semapv:UnspecifiedMatching MONDO:0013058 cystic leukoencephalopathy without megalencephaly skos:exactMatch SCTID:720825005 semapv:UnspecifiedMatching MONDO:0013058 cystic leukoencephalopathy without megalencephaly skos:exactMatch UMLS:C2751843 semapv:UnspecifiedMatching MONDO:0013058 cystic leukoencephalopathy without megalencephaly skos:exactMatch icd11.foundation:1081165012 Cystic leukoencephalopathy without megalencephaly semapv:UnspecifiedMatching MONDO:0013058 cystic leukoencephalopathy without megalencephaly skos:exactMatch mesh:C567845 semapv:UnspecifiedMatching MONDO:0013059 Aicardi-Goutieres syndrome 5 skos:exactMatch MEDGEN:413116 semapv:UnspecifiedMatching MONDO:0013059 Aicardi-Goutieres syndrome 5 skos:exactMatch NCIT:C168564 Aicardi-Goutieres Syndrome 5 semapv:UnspecifiedMatching MONDO:0013059 Aicardi-Goutieres syndrome 5 skos:exactMatch OMIM:612952 aicardi-goutieres syndrome 5 semapv:UnspecifiedMatching MONDO:0013059 Aicardi-Goutieres syndrome 5 skos:exactMatch UMLS:C2749659 semapv:UnspecifiedMatching MONDO:0013059 Aicardi-Goutieres syndrome 5 skos:exactMatch mesh:C535608 semapv:UnspecifiedMatching MONDO:0013060 autosomal recessive Parkinson disease 14 skos:exactMatch DOID:0060900 Parkinson's disease 14 semapv:UnspecifiedMatching MONDO:0013060 autosomal recessive Parkinson disease 14 skos:exactMatch MEDGEN:414488 semapv:UnspecifiedMatching MONDO:0013060 autosomal recessive Parkinson disease 14 skos:exactMatch OMIM:612953 parkinson disease 14, autosomal recessive semapv:UnspecifiedMatching MONDO:0013060 autosomal recessive Parkinson disease 14 skos:exactMatch Orphanet:199351 Adult-onset dystonia-parkinsonism semapv:UnspecifiedMatching MONDO:0013060 autosomal recessive Parkinson disease 14 skos:exactMatch SCTID:720466001 semapv:UnspecifiedMatching MONDO:0013060 autosomal recessive Parkinson disease 14 skos:exactMatch UMLS:C2751842 semapv:UnspecifiedMatching MONDO:0013060 autosomal recessive Parkinson disease 14 skos:exactMatch mesh:C567844 semapv:UnspecifiedMatching MONDO:0013061 myofibrillar myopathy 6 skos:exactMatch DOID:0080097 myofibrillar myopathy 6 semapv:UnspecifiedMatching MONDO:0013061 myofibrillar myopathy 6 skos:exactMatch MEDGEN:414119 semapv:UnspecifiedMatching MONDO:0013061 myofibrillar myopathy 6 skos:exactMatch OMIM:612954 myopathy, myofibrillar, 6 semapv:UnspecifiedMatching MONDO:0013061 myofibrillar myopathy 6 skos:exactMatch Orphanet:199340 Muscular dystrophy, Selcen type semapv:UnspecifiedMatching MONDO:0013061 myofibrillar myopathy 6 skos:exactMatch UMLS:C2751831 semapv:UnspecifiedMatching MONDO:0013061 myofibrillar myopathy 6 skos:exactMatch mesh:C567843 semapv:UnspecifiedMatching MONDO:0013062 long QT syndrome 12 skos:exactMatch DOID:0110653 long QT syndrome 12 semapv:UnspecifiedMatching MONDO:0013062 long QT syndrome 12 skos:exactMatch MEDGEN:442824 semapv:UnspecifiedMatching MONDO:0013062 long QT syndrome 12 skos:exactMatch OMIM:612955 long qt syndrome 12 semapv:UnspecifiedMatching MONDO:0013062 long QT syndrome 12 skos:exactMatch UMLS:C2751830 semapv:UnspecifiedMatching MONDO:0013062 long QT syndrome 12 skos:exactMatch mesh:C567842 semapv:UnspecifiedMatching MONDO:0013063 ventricular fibrillation, paroxysmal familial, 2 skos:exactMatch MEDGEN:442823 semapv:UnspecifiedMatching MONDO:0013063 ventricular fibrillation, paroxysmal familial, 2 skos:exactMatch OMIM:612956 ventricular fibrillation, paroxysmal familial, 2 semapv:UnspecifiedMatching MONDO:0013063 ventricular fibrillation, paroxysmal familial, 2 skos:exactMatch UMLS:C2751829 semapv:UnspecifiedMatching MONDO:0013063 ventricular fibrillation, paroxysmal familial, 2 skos:exactMatch mesh:C567841 semapv:UnspecifiedMatching MONDO:0013064 multiple synostoses syndrome 3 skos:exactMatch DOID:0081319 multiple synostoses syndrome 3 semapv:UnspecifiedMatching MONDO:0013064 multiple synostoses syndrome 3 skos:exactMatch MEDGEN:414116 semapv:UnspecifiedMatching MONDO:0013064 multiple synostoses syndrome 3 skos:exactMatch OMIM:612961 multiple synostoses syndrome 3 semapv:UnspecifiedMatching MONDO:0013064 multiple synostoses syndrome 3 skos:exactMatch UMLS:C2751826 semapv:UnspecifiedMatching MONDO:0013064 multiple synostoses syndrome 3 skos:exactMatch mesh:C567839 semapv:UnspecifiedMatching MONDO:0013065 premature ovarian failure 7 skos:exactMatch DOID:0080864 primary ovarian insufficiency 7 semapv:UnspecifiedMatching MONDO:0013065 premature ovarian failure 7 skos:exactMatch MEDGEN:414115 semapv:UnspecifiedMatching MONDO:0013065 premature ovarian failure 7 skos:exactMatch OMIM:612964 premature ovarian failure 7 semapv:UnspecifiedMatching MONDO:0013065 premature ovarian failure 7 skos:exactMatch UMLS:C2751825 semapv:UnspecifiedMatching MONDO:0013065 premature ovarian failure 7 skos:exactMatch mesh:C567838 semapv:UnspecifiedMatching MONDO:0013066 46,XY sex reversal 3 skos:exactMatch DOID:0111772 46,XY sex reversal 3 semapv:UnspecifiedMatching MONDO:0013066 46,XY sex reversal 3 skos:exactMatch MEDGEN:483746 semapv:UnspecifiedMatching MONDO:0013066 46,XY sex reversal 3 skos:exactMatch OMIM:612965 46,xy sex reversal 3 semapv:UnspecifiedMatching MONDO:0013066 46,XY sex reversal 3 skos:exactMatch UMLS:C3489793 semapv:UnspecifiedMatching MONDO:0013067 cataract 34 multiple types skos:exactMatch DOID:0110230 cataract 34 multiple types semapv:UnspecifiedMatching MONDO:0013067 cataract 34 multiple types skos:exactMatch MEDGEN:442822 semapv:UnspecifiedMatching MONDO:0013067 cataract 34 multiple types skos:exactMatch OMIM:612968 cataract 34, multiple types semapv:UnspecifiedMatching MONDO:0013067 cataract 34 multiple types skos:exactMatch UMLS:C2751822 semapv:UnspecifiedMatching MONDO:0013067 cataract 34 multiple types skos:exactMatch mesh:C567835 semapv:UnspecifiedMatching MONDO:0013068 age-related hearing impairment 2 skos:exactMatch MEDGEN:416639 semapv:UnspecifiedMatching MONDO:0013068 age-related hearing impairment 2 skos:exactMatch OMIM:612976 age-related hearing impairment 2 semapv:UnspecifiedMatching MONDO:0013068 age-related hearing impairment 2 skos:exactMatch UMLS:C2751814 semapv:UnspecifiedMatching MONDO:0013068 age-related hearing impairment 2 skos:exactMatch mesh:C567834 semapv:UnspecifiedMatching MONDO:0013069 autosomal recessive optic atrophy, OPA7 type skos:exactMatch DOID:0111437 optic atrophy 7 semapv:UnspecifiedMatching MONDO:0013069 autosomal recessive optic atrophy, OPA7 type skos:exactMatch MEDGEN:414112 semapv:UnspecifiedMatching MONDO:0013069 autosomal recessive optic atrophy, OPA7 type skos:exactMatch OMIM:612989 optic atrophy 7 with or without auditory neuropathy semapv:UnspecifiedMatching MONDO:0013069 autosomal recessive optic atrophy, OPA7 type skos:exactMatch Orphanet:227976 Autosomal recessive optic atrophy, OPA7 type semapv:UnspecifiedMatching MONDO:0013069 autosomal recessive optic atrophy, OPA7 type skos:exactMatch UMLS:C2751812 semapv:UnspecifiedMatching MONDO:0013069 autosomal recessive optic atrophy, OPA7 type skos:exactMatch mesh:C567833 semapv:UnspecifiedMatching MONDO:0013070 spermatogenic failure 7 skos:exactMatch DOID:0070173 spermatogenic failure 7 semapv:UnspecifiedMatching MONDO:0013070 spermatogenic failure 7 skos:exactMatch MEDGEN:414478 semapv:UnspecifiedMatching MONDO:0013070 spermatogenic failure 7 skos:exactMatch OMIM:612997 spermatogenic failure 7 semapv:UnspecifiedMatching MONDO:0013070 spermatogenic failure 7 skos:exactMatch UMLS:C2751811 semapv:UnspecifiedMatching MONDO:0013070 spermatogenic failure 7 skos:exactMatch mesh:C567832 semapv:UnspecifiedMatching MONDO:0013071 Emery-Dreifuss muscular dystrophy 4, autosomal dominant skos:exactMatch DOID:0070249 autosomal dominant Emery-Dreifuss muscular dystrophy 4 semapv:UnspecifiedMatching MONDO:0013071 Emery-Dreifuss muscular dystrophy 4, autosomal dominant skos:exactMatch MEDGEN:414476 semapv:UnspecifiedMatching MONDO:0013071 Emery-Dreifuss muscular dystrophy 4, autosomal dominant skos:exactMatch OMIM:612998 emery-dreifuss muscular dystrophy 4, autosomal dominant semapv:UnspecifiedMatching MONDO:0013071 Emery-Dreifuss muscular dystrophy 4, autosomal dominant skos:exactMatch UMLS:C2751807 semapv:UnspecifiedMatching MONDO:0013071 Emery-Dreifuss muscular dystrophy 4, autosomal dominant skos:exactMatch mesh:C567831 semapv:UnspecifiedMatching MONDO:0013072 Emery-Dreifuss muscular dystrophy 5, autosomal dominant skos:exactMatch DOID:0070250 autosomal dominant Emery-Dreifuss muscular dystrophy 5 semapv:UnspecifiedMatching MONDO:0013072 Emery-Dreifuss muscular dystrophy 5, autosomal dominant skos:exactMatch MEDGEN:414111 semapv:UnspecifiedMatching MONDO:0013072 Emery-Dreifuss muscular dystrophy 5, autosomal dominant skos:exactMatch OMIM:612999 emery-dreifuss muscular dystrophy 5, autosomal dominant semapv:UnspecifiedMatching MONDO:0013072 Emery-Dreifuss muscular dystrophy 5, autosomal dominant skos:exactMatch UMLS:C2751805 semapv:UnspecifiedMatching MONDO:0013073 palmoplantar keratoderma, nonepidermolytic, focal 1 skos:exactMatch DOID:0111709 focal nonepidermolytic palmoplantar keratoderma 1 semapv:UnspecifiedMatching MONDO:0013073 palmoplantar keratoderma, nonepidermolytic, focal 1 skos:exactMatch MEDGEN:1644485 semapv:UnspecifiedMatching MONDO:0013073 palmoplantar keratoderma, nonepidermolytic, focal 1 skos:exactMatch OMIM:613000 palmoplantar keratoderma, nonepidermolytic, focal 1 semapv:UnspecifiedMatching MONDO:0013073 palmoplantar keratoderma, nonepidermolytic, focal 1 skos:exactMatch UMLS:C4552049 semapv:UnspecifiedMatching MONDO:0013074 encephalocraniocutaneous lipomatosis skos:exactMatch MEDGEN:140807 semapv:UnspecifiedMatching MONDO:0013074 encephalocraniocutaneous lipomatosis skos:exactMatch NCIT:C4701 Encephalocraniocutaneous Lipomatosis semapv:UnspecifiedMatching MONDO:0013074 encephalocraniocutaneous lipomatosis skos:exactMatch OMIM:613001 encephalocraniocutaneous lipomatosis semapv:UnspecifiedMatching MONDO:0013074 encephalocraniocutaneous lipomatosis skos:exactMatch Orphanet:2396 Encephalocraniocutaneous lipomatosis semapv:UnspecifiedMatching MONDO:0013074 encephalocraniocutaneous lipomatosis skos:exactMatch SCTID:238905009 semapv:UnspecifiedMatching MONDO:0013074 encephalocraniocutaneous lipomatosis skos:exactMatch UMLS:C0406612 semapv:UnspecifiedMatching MONDO:0013074 encephalocraniocutaneous lipomatosis skos:exactMatch icd11.foundation:1084215843 Encephalocraniocutaneous lipomatosis semapv:UnspecifiedMatching MONDO:0013074 encephalocraniocutaneous lipomatosis skos:exactMatch mesh:C535736 semapv:UnspecifiedMatching MONDO:0013076 attention deficit-hyperactivity disorder, susceptibility to, 7 skos:exactMatch MEDGEN:416637 semapv:UnspecifiedMatching MONDO:0013076 attention deficit-hyperactivity disorder, susceptibility to, 7 skos:exactMatch OMIM:613003 attention deficit-hyperactivity disorder, susceptibility to, 7 semapv:UnspecifiedMatching MONDO:0013076 attention deficit-hyperactivity disorder, susceptibility to, 7 skos:exactMatch UMLS:C2751802 semapv:UnspecifiedMatching MONDO:0013077 Santos syndrome skos:exactMatch MEDGEN:414444 semapv:UnspecifiedMatching MONDO:0013077 Santos syndrome skos:exactMatch OMIM:613005 santos syndrome semapv:UnspecifiedMatching MONDO:0013077 Santos syndrome skos:exactMatch UMLS:C2751698 semapv:UnspecifiedMatching MONDO:0013077 Santos syndrome skos:exactMatch mesh:C567819 semapv:UnspecifiedMatching MONDO:0013078 type 1 diabetes mellitus 24 skos:exactMatch DOID:0110761 type 1 diabetes mellitus 24 semapv:UnspecifiedMatching MONDO:0013078 type 1 diabetes mellitus 24 skos:exactMatch MEDGEN:442792 semapv:UnspecifiedMatching MONDO:0013078 type 1 diabetes mellitus 24 skos:exactMatch OMIM:613006 type 1 diabetes mellitus 24 semapv:UnspecifiedMatching MONDO:0013078 type 1 diabetes mellitus 24 skos:exactMatch UMLS:C2751697 semapv:UnspecifiedMatching MONDO:0013078 type 1 diabetes mellitus 24 skos:exactMatch mesh:C567818 semapv:UnspecifiedMatching MONDO:0013079 primary biliary cholangitis 2 skos:exactMatch DOID:0070359 primary biliary cholangitis 2 semapv:UnspecifiedMatching MONDO:0013079 primary biliary cholangitis 2 skos:exactMatch MEDGEN:442791 semapv:UnspecifiedMatching MONDO:0013079 primary biliary cholangitis 2 skos:exactMatch OMIM:613007 biliary cirrhosis, primary, 2 semapv:UnspecifiedMatching MONDO:0013079 primary biliary cholangitis 2 skos:exactMatch UMLS:C2751696 semapv:UnspecifiedMatching MONDO:0013079 primary biliary cholangitis 2 skos:exactMatch mesh:C567817 semapv:UnspecifiedMatching MONDO:0013080 primary biliary cholangitis 3 skos:exactMatch DOID:0070360 primary biliary cholangitis 3 semapv:UnspecifiedMatching MONDO:0013080 primary biliary cholangitis 3 skos:exactMatch MEDGEN:414443 semapv:UnspecifiedMatching MONDO:0013080 primary biliary cholangitis 3 skos:exactMatch OMIM:613008 biliary cirrhosis, primary, 3 semapv:UnspecifiedMatching MONDO:0013080 primary biliary cholangitis 3 skos:exactMatch UMLS:C2751695 semapv:UnspecifiedMatching MONDO:0013080 primary biliary cholangitis 3 skos:exactMatch mesh:C567816 semapv:UnspecifiedMatching MONDO:0013081 lymphoproliferative syndrome 1 skos:exactMatch DOID:0060707 lymphoproliferative syndrome 1 semapv:UnspecifiedMatching MONDO:0013081 lymphoproliferative syndrome 1 skos:exactMatch MEDGEN:765548 semapv:UnspecifiedMatching MONDO:0013081 lymphoproliferative syndrome 1 skos:exactMatch NCIT:C126344 Lymphoproliferative Syndrome 1 semapv:UnspecifiedMatching MONDO:0013081 lymphoproliferative syndrome 1 skos:exactMatch OMIM:613011 lymphoproliferative syndrome 1 semapv:UnspecifiedMatching MONDO:0013081 lymphoproliferative syndrome 1 skos:exactMatch Orphanet:538963 Combined immunodeficiency due to ITK deficiency semapv:UnspecifiedMatching MONDO:0013081 lymphoproliferative syndrome 1 skos:exactMatch UMLS:C3552634 semapv:UnspecifiedMatching MONDO:0013081 lymphoproliferative syndrome 1 skos:exactMatch mesh:C567815 semapv:UnspecifiedMatching MONDO:0013082 Hirschsprung disease-ganglioneuroblastoma syndrome skos:exactMatch MEDGEN:1683967 semapv:UnspecifiedMatching MONDO:0013082 Hirschsprung disease-ganglioneuroblastoma syndrome skos:exactMatch Orphanet:2151 Hirschsprung disease-ganglioneuroblastoma syndrome semapv:UnspecifiedMatching MONDO:0013082 Hirschsprung disease-ganglioneuroblastoma syndrome skos:exactMatch UMLS:C5191058 semapv:UnspecifiedMatching MONDO:0013082 Hirschsprung disease-ganglioneuroblastoma syndrome skos:exactMatch mesh:C538119 semapv:UnspecifiedMatching MONDO:0013083 neuroblastoma, susceptibility to, 3 skos:exactMatch MEDGEN:414083 semapv:UnspecifiedMatching MONDO:0013083 neuroblastoma, susceptibility to, 3 skos:exactMatch OMIM:613014 neuroblastoma, susceptibility to, 3 semapv:UnspecifiedMatching MONDO:0013083 neuroblastoma, susceptibility to, 3 skos:exactMatch UMLS:C2751681 semapv:UnspecifiedMatching MONDO:0013084 neuroblastoma, susceptibility to, 4 skos:exactMatch MEDGEN:414082 semapv:UnspecifiedMatching MONDO:0013084 neuroblastoma, susceptibility to, 4 skos:exactMatch OMIM:613015 neuroblastoma, susceptibility to, 4 semapv:UnspecifiedMatching MONDO:0013084 neuroblastoma, susceptibility to, 4 skos:exactMatch UMLS:C2751680 semapv:UnspecifiedMatching MONDO:0013085 neuroblastoma, susceptibility to, 5 skos:exactMatch MEDGEN:442787 semapv:UnspecifiedMatching MONDO:0013085 neuroblastoma, susceptibility to, 5 skos:exactMatch OMIM:613016 neuroblastoma, susceptibility to, 5 semapv:UnspecifiedMatching MONDO:0013085 neuroblastoma, susceptibility to, 5 skos:exactMatch UMLS:C2751679 semapv:UnspecifiedMatching MONDO:0013086 neuroblastoma, susceptibility to, 6 skos:exactMatch MEDGEN:414440 semapv:UnspecifiedMatching MONDO:0013086 neuroblastoma, susceptibility to, 6 skos:exactMatch OMIM:613017 neuroblastoma, susceptibility to, 6 semapv:UnspecifiedMatching MONDO:0013086 neuroblastoma, susceptibility to, 6 skos:exactMatch UMLS:C2751678 semapv:UnspecifiedMatching MONDO:0013087 bronchiectasis with or without elevated sweat chloride 2 skos:exactMatch DOID:0080527 bronchiectasis 2 semapv:UnspecifiedMatching MONDO:0013087 bronchiectasis with or without elevated sweat chloride 2 skos:exactMatch MEDGEN:414437 semapv:UnspecifiedMatching MONDO:0013087 bronchiectasis with or without elevated sweat chloride 2 skos:exactMatch OMIM:613021 bronchiectasis with or without elevated sweat chloride 2 semapv:UnspecifiedMatching MONDO:0013087 bronchiectasis with or without elevated sweat chloride 2 skos:exactMatch UMLS:C2751666 semapv:UnspecifiedMatching MONDO:0013087 bronchiectasis with or without elevated sweat chloride 2 skos:exactMatch mesh:C567813 semapv:UnspecifiedMatching MONDO:0013088 follicular lymphoma, susceptibility to, 1 skos:exactMatch MEDGEN:442784 semapv:UnspecifiedMatching MONDO:0013088 follicular lymphoma, susceptibility to, 1 skos:exactMatch OMIM:613024 follicular lymphoma, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0013088 follicular lymphoma, susceptibility to, 1 skos:exactMatch UMLS:C2751665 semapv:UnspecifiedMatching MONDO:0013089 schizophrenia 13 skos:exactMatch DOID:0070089 schizophrenia 13 semapv:UnspecifiedMatching MONDO:0013089 schizophrenia 13 skos:exactMatch MEDGEN:416605 semapv:UnspecifiedMatching MONDO:0013089 schizophrenia 13 skos:exactMatch OMIM:613025 schizophrenia 13 semapv:UnspecifiedMatching MONDO:0013089 schizophrenia 13 skos:exactMatch UMLS:C2751663 semapv:UnspecifiedMatching MONDO:0013090 chromosome 19q13.11 deletion syndrome skos:exactMatch DOID:0060408 chromosome 19q13.11 deletion syndrome semapv:UnspecifiedMatching MONDO:0013090 chromosome 19q13.11 deletion syndrome skos:exactMatch MEDGEN:414432 semapv:UnspecifiedMatching MONDO:0013090 chromosome 19q13.11 deletion syndrome skos:exactMatch Orphanet:217346 19q13.11 microdeletion syndrome semapv:UnspecifiedMatching MONDO:0013090 chromosome 19q13.11 deletion syndrome skos:exactMatch SCTID:719599008 semapv:UnspecifiedMatching MONDO:0013090 chromosome 19q13.11 deletion syndrome skos:exactMatch UMLS:C2751651 semapv:UnspecifiedMatching MONDO:0013090 chromosome 19q13.11 deletion syndrome skos:exactMatch mesh:C567810 semapv:UnspecifiedMatching MONDO:0013091 glycogen storage disease IXc skos:exactMatch DOID:0111043 glycogen storage disease IXc semapv:UnspecifiedMatching MONDO:0013091 glycogen storage disease IXc skos:exactMatch MEDGEN:442778 semapv:UnspecifiedMatching MONDO:0013091 glycogen storage disease IXc skos:exactMatch OMIM:613027 glycogen storage disease ixc semapv:UnspecifiedMatching MONDO:0013091 glycogen storage disease IXc skos:exactMatch UMLS:C2751643 semapv:UnspecifiedMatching MONDO:0013091 glycogen storage disease IXc skos:exactMatch mesh:C567809 semapv:UnspecifiedMatching MONDO:0013092 glioma susceptibility 2 skos:exactMatch MEDGEN:414431 semapv:UnspecifiedMatching MONDO:0013092 glioma susceptibility 2 skos:exactMatch OMIM:613028 glioma susceptibility 2 semapv:UnspecifiedMatching MONDO:0013092 glioma susceptibility 2 skos:exactMatch UMLS:C2751642 semapv:UnspecifiedMatching MONDO:0013093 glioma susceptibility 3 skos:exactMatch MEDGEN:442777 semapv:UnspecifiedMatching MONDO:0013093 glioma susceptibility 3 skos:exactMatch OMIM:613029 glioma susceptibility 3 semapv:UnspecifiedMatching MONDO:0013093 glioma susceptibility 3 skos:exactMatch UMLS:C2751641 semapv:UnspecifiedMatching MONDO:0013094 glioma susceptibility 5 skos:exactMatch MEDGEN:414430 semapv:UnspecifiedMatching MONDO:0013094 glioma susceptibility 5 skos:exactMatch OMIM:613030 glioma susceptibility 5 semapv:UnspecifiedMatching MONDO:0013094 glioma susceptibility 5 skos:exactMatch UMLS:C2751640 semapv:UnspecifiedMatching MONDO:0013095 glioma susceptibility 6 skos:exactMatch MEDGEN:414429 semapv:UnspecifiedMatching MONDO:0013095 glioma susceptibility 6 skos:exactMatch OMIM:613031 glioma susceptibility 6 semapv:UnspecifiedMatching MONDO:0013095 glioma susceptibility 6 skos:exactMatch UMLS:C2751639 semapv:UnspecifiedMatching MONDO:0013096 glioma susceptibility 7 skos:exactMatch MEDGEN:416602 semapv:UnspecifiedMatching MONDO:0013096 glioma susceptibility 7 skos:exactMatch OMIM:613032 glioma susceptibility 7 semapv:UnspecifiedMatching MONDO:0013096 glioma susceptibility 7 skos:exactMatch UMLS:C2751638 semapv:UnspecifiedMatching MONDO:0013097 glioma susceptibility 8 skos:exactMatch MEDGEN:416601 semapv:UnspecifiedMatching MONDO:0013097 glioma susceptibility 8 skos:exactMatch OMIM:613033 glioma susceptibility 8 semapv:UnspecifiedMatching MONDO:0013097 glioma susceptibility 8 skos:exactMatch UMLS:C2751637 semapv:UnspecifiedMatching MONDO:0013098 noise induced hearing loss skos:exactMatch EFO:1001254 semapv:UnspecifiedMatching MONDO:0013098 noise induced hearing loss skos:exactMatch MEDGEN:5455 semapv:UnspecifiedMatching MONDO:0013098 noise induced hearing loss skos:exactMatch NCIT:C34664 Noise Induced Hearing Loss semapv:UnspecifiedMatching MONDO:0013098 noise induced hearing loss skos:exactMatch SCTID:73415002 semapv:UnspecifiedMatching MONDO:0013098 noise induced hearing loss skos:exactMatch UMLS:C0018781 semapv:UnspecifiedMatching MONDO:0013098 noise induced hearing loss skos:exactMatch mesh:D006317 semapv:UnspecifiedMatching MONDO:0013099 combined pituitary hormone deficiencies, genetic form skos:exactMatch MEDGEN:906592 semapv:UnspecifiedMatching MONDO:0013099 combined pituitary hormone deficiencies, genetic form skos:exactMatch OMIMPS:613038 Pituitary hormone deficiency, combined semapv:UnspecifiedMatching MONDO:0013099 combined pituitary hormone deficiencies, genetic form skos:exactMatch Orphanet:95494 Combined pituitary hormone deficiencies, genetic forms semapv:UnspecifiedMatching MONDO:0013099 combined pituitary hormone deficiencies, genetic form skos:exactMatch SCTID:718182008 semapv:UnspecifiedMatching MONDO:0013099 combined pituitary hormone deficiencies, genetic form skos:exactMatch UMLS:C4273747 semapv:UnspecifiedMatching MONDO:0013100 atrial fibrillation, familial, 8 skos:exactMatch MEDGEN:414420 semapv:UnspecifiedMatching MONDO:0013100 atrial fibrillation, familial, 8 skos:exactMatch OMIM:613055 atrial fibrillation, familial, 8 semapv:UnspecifiedMatching MONDO:0013100 atrial fibrillation, familial, 8 skos:exactMatch UMLS:C2751607 semapv:UnspecifiedMatching MONDO:0013100 atrial fibrillation, familial, 8 skos:exactMatch mesh:C567802 semapv:UnspecifiedMatching MONDO:0013101 basal cell carcinoma, susceptibility to, 2 skos:exactMatch MEDGEN:442769 semapv:UnspecifiedMatching MONDO:0013101 basal cell carcinoma, susceptibility to, 2 skos:exactMatch OMIM:613058 basal cell carcinoma, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0013101 basal cell carcinoma, susceptibility to, 2 skos:exactMatch UMLS:C2751606 semapv:UnspecifiedMatching MONDO:0013102 basal cell carcinoma, susceptibility to, 3 skos:exactMatch MEDGEN:414419 semapv:UnspecifiedMatching MONDO:0013102 basal cell carcinoma, susceptibility to, 3 skos:exactMatch OMIM:613059 basal cell carcinoma, susceptibility to, 3 semapv:UnspecifiedMatching MONDO:0013102 basal cell carcinoma, susceptibility to, 3 skos:exactMatch UMLS:C2751605 semapv:UnspecifiedMatching MONDO:0013103 epilepsy, idiopathic generalized, susceptibility to, 10 skos:exactMatch MEDGEN:414062 semapv:UnspecifiedMatching MONDO:0013103 epilepsy, idiopathic generalized, susceptibility to, 10 skos:exactMatch OMIM:613060 epilepsy, idiopathic generalized, susceptibility to, 10 semapv:UnspecifiedMatching MONDO:0013103 epilepsy, idiopathic generalized, susceptibility to, 10 skos:exactMatch UMLS:C2751603 semapv:UnspecifiedMatching MONDO:0013104 basal cell carcinoma, susceptibility to, 4 skos:exactMatch MEDGEN:414061 semapv:UnspecifiedMatching MONDO:0013104 basal cell carcinoma, susceptibility to, 4 skos:exactMatch OMIM:613061 basal cell carcinoma, susceptibility to, 4 semapv:UnspecifiedMatching MONDO:0013104 basal cell carcinoma, susceptibility to, 4 skos:exactMatch UMLS:C2751602 semapv:UnspecifiedMatching MONDO:0013105 basal cell carcinoma, susceptibility to, 5 skos:exactMatch MEDGEN:414060 semapv:UnspecifiedMatching MONDO:0013105 basal cell carcinoma, susceptibility to, 5 skos:exactMatch OMIM:613062 basal cell carcinoma, susceptibility to, 5 semapv:UnspecifiedMatching MONDO:0013105 basal cell carcinoma, susceptibility to, 5 skos:exactMatch UMLS:C2751601 semapv:UnspecifiedMatching MONDO:0013106 basal cell carcinoma, susceptibility to, 6 skos:exactMatch MEDGEN:414059 semapv:UnspecifiedMatching MONDO:0013106 basal cell carcinoma, susceptibility to, 6 skos:exactMatch OMIM:613063 basal cell carcinoma, susceptibility to, 6 semapv:UnspecifiedMatching MONDO:0013106 basal cell carcinoma, susceptibility to, 6 skos:exactMatch UMLS:C2751600 semapv:UnspecifiedMatching MONDO:0013107 dermatitis, atopic, 7 skos:exactMatch DOID:0110103 atopic dermatitis 7 semapv:UnspecifiedMatching MONDO:0013107 dermatitis, atopic, 7 skos:exactMatch MEDGEN:414058 semapv:UnspecifiedMatching MONDO:0013107 dermatitis, atopic, 7 skos:exactMatch OMIM:613064 dermatitis, atopic, 7 semapv:UnspecifiedMatching MONDO:0013107 dermatitis, atopic, 7 skos:exactMatch UMLS:C2751599 semapv:UnspecifiedMatching MONDO:0013107 dermatitis, atopic, 7 skos:exactMatch mesh:C567796 semapv:UnspecifiedMatching MONDO:0013108 leukemia, acute lymphocytic, susceptibility to, 1 skos:exactMatch MEDGEN:442767 semapv:UnspecifiedMatching MONDO:0013108 leukemia, acute lymphocytic, susceptibility to, 1 skos:exactMatch OMIM:613065 leukemia, acute lymphoblastic semapv:UnspecifiedMatching MONDO:0013108 leukemia, acute lymphocytic, susceptibility to, 1 skos:exactMatch UMLS:C2751595 semapv:UnspecifiedMatching MONDO:0013109 leukemia, acute lymphocytic, susceptibility to, 2 skos:exactMatch MEDGEN:442766 semapv:UnspecifiedMatching MONDO:0013109 leukemia, acute lymphocytic, susceptibility to, 2 skos:exactMatch OMIM:613067 leukemia, acute lymphoblastic, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0013109 leukemia, acute lymphocytic, susceptibility to, 2 skos:exactMatch UMLS:C2751593 semapv:UnspecifiedMatching MONDO:0013110 neurodegenerative syndrome due to cerebral folate transport deficiency skos:exactMatch DOID:0050719 cerebral folate receptor alpha deficiency semapv:UnspecifiedMatching MONDO:0013110 neurodegenerative syndrome due to cerebral folate transport deficiency skos:exactMatch MEDGEN:442763 semapv:UnspecifiedMatching MONDO:0013110 neurodegenerative syndrome due to cerebral folate transport deficiency skos:exactMatch OMIM:613068 neurodegeneration due to cerebral folate transport deficiency semapv:UnspecifiedMatching MONDO:0013110 neurodegenerative syndrome due to cerebral folate transport deficiency skos:exactMatch Orphanet:217382 Neurodegenerative syndrome due to cerebral folate transport deficiency semapv:UnspecifiedMatching MONDO:0013110 neurodegenerative syndrome due to cerebral folate transport deficiency skos:exactMatch SCTID:711403001 semapv:UnspecifiedMatching MONDO:0013110 neurodegenerative syndrome due to cerebral folate transport deficiency skos:exactMatch UMLS:C2751584 semapv:UnspecifiedMatching MONDO:0013110 neurodegenerative syndrome due to cerebral folate transport deficiency skos:exactMatch icd11.foundation:1158040363 Neurodegenerative syndrome due to cerebral folate transport deficiency semapv:UnspecifiedMatching MONDO:0013110 neurodegenerative syndrome due to cerebral folate transport deficiency skos:exactMatch mesh:C567791 semapv:UnspecifiedMatching MONDO:0013111 acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins skos:exactMatch DOID:0080778 transient infantile liver failure semapv:UnspecifiedMatching MONDO:0013111 acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins skos:exactMatch MEDGEN:480294 semapv:UnspecifiedMatching MONDO:0013111 acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins skos:exactMatch OMIM:613070 liver failure, infantile, transient semapv:UnspecifiedMatching MONDO:0013111 acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins skos:exactMatch Orphanet:217371 Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins semapv:UnspecifiedMatching MONDO:0013111 acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins skos:exactMatch UMLS:C3278664 semapv:UnspecifiedMatching MONDO:0013112 bronchiectasis with or without elevated sweat chloride 3 skos:exactMatch DOID:0080528 bronchiectasis 3 semapv:UnspecifiedMatching MONDO:0013112 bronchiectasis with or without elevated sweat chloride 3 skos:exactMatch MEDGEN:414351 semapv:UnspecifiedMatching MONDO:0013112 bronchiectasis with or without elevated sweat chloride 3 skos:exactMatch OMIM:613071 bronchiectasis with or without elevated sweat chloride 3 semapv:UnspecifiedMatching MONDO:0013112 bronchiectasis with or without elevated sweat chloride 3 skos:exactMatch UMLS:C2751324 semapv:UnspecifiedMatching MONDO:0013112 bronchiectasis with or without elevated sweat chloride 3 skos:exactMatch mesh:C567772 semapv:UnspecifiedMatching MONDO:0013113 metaphyseal anadysplasia 2 skos:exactMatch MEDGEN:414350 semapv:UnspecifiedMatching MONDO:0013113 metaphyseal anadysplasia 2 skos:exactMatch OMIM:613073 metaphyseal anadysplasia 2 semapv:UnspecifiedMatching MONDO:0013113 metaphyseal anadysplasia 2 skos:exactMatch UMLS:C2751322 semapv:UnspecifiedMatching MONDO:0013113 metaphyseal anadysplasia 2 skos:exactMatch mesh:C567771 semapv:UnspecifiedMatching MONDO:0013114 autosomal dominant nonsyndromic hearing loss 50 skos:exactMatch DOID:0110576 autosomal dominant nonsyndromic deafness 50 semapv:UnspecifiedMatching MONDO:0013114 autosomal dominant nonsyndromic hearing loss 50 skos:exactMatch MEDGEN:854780 semapv:UnspecifiedMatching MONDO:0013114 autosomal dominant nonsyndromic hearing loss 50 skos:exactMatch OMIM:613074 deafness, autosomal dominant 50 semapv:UnspecifiedMatching MONDO:0013114 autosomal dominant nonsyndromic hearing loss 50 skos:exactMatch UMLS:C3888123 semapv:UnspecifiedMatching MONDO:0013115 RIN2 syndrome skos:exactMatch MEDGEN:416526 semapv:UnspecifiedMatching MONDO:0013115 RIN2 syndrome skos:exactMatch OMIM:613075 macs syndrome semapv:UnspecifiedMatching MONDO:0013115 RIN2 syndrome skos:exactMatch Orphanet:217335 RIN2 syndrome semapv:UnspecifiedMatching MONDO:0013115 RIN2 syndrome skos:exactMatch SCTID:723367005 semapv:UnspecifiedMatching MONDO:0013115 RIN2 syndrome skos:exactMatch UMLS:C2751321 semapv:UnspecifiedMatching MONDO:0013115 RIN2 syndrome skos:exactMatch mesh:C567770 semapv:UnspecifiedMatching MONDO:0013116 congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome skos:exactMatch MEDGEN:416525 semapv:UnspecifiedMatching MONDO:0013116 congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome skos:exactMatch OMIM:613076 myopathy, mitochondrial progressive, with congenital cataract and developmental delay semapv:UnspecifiedMatching MONDO:0013116 congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome skos:exactMatch Orphanet:330054 Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome semapv:UnspecifiedMatching MONDO:0013116 congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome skos:exactMatch UMLS:C2751320 semapv:UnspecifiedMatching MONDO:0013116 congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome skos:exactMatch mesh:C567769 semapv:UnspecifiedMatching MONDO:0013117 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 skos:exactMatch DOID:0111518 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5 semapv:UnspecifiedMatching MONDO:0013117 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 skos:exactMatch MEDGEN:413981 semapv:UnspecifiedMatching MONDO:0013117 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 skos:exactMatch OMIM:613077 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 semapv:UnspecifiedMatching MONDO:0013117 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 skos:exactMatch UMLS:C2751319 semapv:UnspecifiedMatching MONDO:0013117 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 skos:exactMatch mesh:C567768 semapv:UnspecifiedMatching MONDO:0013118 Nijmegen breakage syndrome-like disorder skos:exactMatch MEDGEN:442700 semapv:UnspecifiedMatching MONDO:0013118 Nijmegen breakage syndrome-like disorder skos:exactMatch NCIT:C153178 Nijmegen Breakage Syndrome-Like Disorder semapv:UnspecifiedMatching MONDO:0013118 Nijmegen breakage syndrome-like disorder skos:exactMatch OMIM:613078 nijmegen breakage syndrome-like disorder semapv:UnspecifiedMatching MONDO:0013118 Nijmegen breakage syndrome-like disorder skos:exactMatch Orphanet:240760 Nijmegen breakage syndrome-like disorder semapv:UnspecifiedMatching MONDO:0013118 Nijmegen breakage syndrome-like disorder skos:exactMatch SCTID:766753005 semapv:UnspecifiedMatching MONDO:0013118 Nijmegen breakage syndrome-like disorder skos:exactMatch UMLS:C2751318 semapv:UnspecifiedMatching MONDO:0013118 Nijmegen breakage syndrome-like disorder skos:exactMatch icd11.foundation:1014526672 Nijmegen breakage syndrome-like disorder semapv:UnspecifiedMatching MONDO:0013118 Nijmegen breakage syndrome-like disorder skos:exactMatch mesh:C567767 semapv:UnspecifiedMatching MONDO:0013119 autosomal recessive nonsyndromic hearing loss 77 skos:exactMatch DOID:0110525 autosomal recessive nonsyndromic deafness 77 semapv:UnspecifiedMatching MONDO:0013119 autosomal recessive nonsyndromic hearing loss 77 skos:exactMatch MEDGEN:412541 semapv:UnspecifiedMatching MONDO:0013119 autosomal recessive nonsyndromic hearing loss 77 skos:exactMatch OMIM:613079 deafness, autosomal recessive 77 semapv:UnspecifiedMatching MONDO:0013119 autosomal recessive nonsyndromic hearing loss 77 skos:exactMatch UMLS:C2746083 semapv:UnspecifiedMatching MONDO:0013119 autosomal recessive nonsyndromic hearing loss 77 skos:exactMatch mesh:C567543 semapv:UnspecifiedMatching MONDO:0013120 46,XY sex reversal 5 skos:exactMatch DOID:0111776 46,XY sex reversal 5 semapv:UnspecifiedMatching MONDO:0013120 46,XY sex reversal 5 skos:exactMatch MEDGEN:414349 semapv:UnspecifiedMatching MONDO:0013120 46,XY sex reversal 5 skos:exactMatch OMIM:613080 46,xy sex reversal 5 semapv:UnspecifiedMatching MONDO:0013120 46,XY sex reversal 5 skos:exactMatch UMLS:C2751317 semapv:UnspecifiedMatching MONDO:0013120 46,XY sex reversal 5 skos:exactMatch mesh:C567766 semapv:UnspecifiedMatching MONDO:0013121 glaucoma 3, primary congenital, C skos:exactMatch MEDGEN:854718 semapv:UnspecifiedMatching MONDO:0013121 glaucoma 3, primary congenital, C skos:exactMatch OMIM:613085 glaucoma 3, primary congenital, c semapv:UnspecifiedMatching MONDO:0013121 glaucoma 3, primary congenital, C skos:exactMatch UMLS:C3888011 semapv:UnspecifiedMatching MONDO:0013122 glaucoma 3, primary congenital, D skos:exactMatch MEDGEN:416524 semapv:UnspecifiedMatching MONDO:0013122 glaucoma 3, primary congenital, D skos:exactMatch OMIM:613086 glaucoma 3, primary congenital, d semapv:UnspecifiedMatching MONDO:0013122 glaucoma 3, primary congenital, D skos:exactMatch UMLS:C2751316 semapv:UnspecifiedMatching MONDO:0013122 glaucoma 3, primary congenital, D skos:exactMatch mesh:C567765 semapv:UnspecifiedMatching MONDO:0013123 atrial septal defect 6 skos:exactMatch DOID:0110111 atrial heart septal defect 6 semapv:UnspecifiedMatching MONDO:0013123 atrial septal defect 6 skos:exactMatch MEDGEN:414348 semapv:UnspecifiedMatching MONDO:0013123 atrial septal defect 6 skos:exactMatch OMIM:613087 atrial septal defect 6 semapv:UnspecifiedMatching MONDO:0013123 atrial septal defect 6 skos:exactMatch UMLS:C2751315 semapv:UnspecifiedMatching MONDO:0013123 atrial septal defect 6 skos:exactMatch mesh:C567764 semapv:UnspecifiedMatching MONDO:0013124 pelvic organ prolapse, susceptibility to, 2 skos:exactMatch MEDGEN:416523 semapv:UnspecifiedMatching MONDO:0013124 pelvic organ prolapse, susceptibility to, 2 skos:exactMatch OMIM:613088 pelvic organ prolapse, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0013124 pelvic organ prolapse, susceptibility to, 2 skos:exactMatch UMLS:C2751314 semapv:UnspecifiedMatching MONDO:0013125 CLAPO syndrome skos:exactMatch MEDGEN:416522 semapv:UnspecifiedMatching MONDO:0013125 CLAPO syndrome skos:exactMatch OMIM:613089 capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth semapv:UnspecifiedMatching MONDO:0013125 CLAPO syndrome skos:exactMatch Orphanet:168984 CLAPO syndrome semapv:UnspecifiedMatching MONDO:0013125 CLAPO syndrome skos:exactMatch SCTID:717765001 semapv:UnspecifiedMatching MONDO:0013125 CLAPO syndrome skos:exactMatch UMLS:C2751313 semapv:UnspecifiedMatching MONDO:0013125 CLAPO syndrome skos:exactMatch icd11.foundation:415642712 CLAPO syndrome semapv:UnspecifiedMatching MONDO:0013125 CLAPO syndrome skos:exactMatch mesh:C567763 semapv:UnspecifiedMatching MONDO:0013127 asphyxiating thoracic dystrophy 3 skos:exactMatch DOID:0110087 asphyxiating thoracic dystrophy 3 semapv:UnspecifiedMatching MONDO:0013127 asphyxiating thoracic dystrophy 3 skos:exactMatch MEDGEN:19860 semapv:UnspecifiedMatching MONDO:0013127 asphyxiating thoracic dystrophy 3 skos:exactMatch NCIT:C163755 Short-Rib Thoracic Dysplasia 3 with or without Polydactyly semapv:UnspecifiedMatching MONDO:0013127 asphyxiating thoracic dystrophy 3 skos:exactMatch OMIM:613091 short-rib thoracic dysplasia 3 with or without polydactyly semapv:UnspecifiedMatching MONDO:0013127 asphyxiating thoracic dystrophy 3 skos:exactMatch Orphanet:93270 Short rib-polydactyly syndrome, Saldino-Noonan type semapv:UnspecifiedMatching MONDO:0013127 asphyxiating thoracic dystrophy 3 skos:exactMatch Orphanet:93271 Short rib-polydactyly syndrome, Verma-Naumoff type semapv:UnspecifiedMatching MONDO:0013127 asphyxiating thoracic dystrophy 3 skos:exactMatch SCTID:254051008 semapv:UnspecifiedMatching MONDO:0013127 asphyxiating thoracic dystrophy 3 skos:exactMatch UMLS:C0036069 semapv:UnspecifiedMatching MONDO:0013127 asphyxiating thoracic dystrophy 3 skos:exactMatch mesh:C537602 semapv:UnspecifiedMatching MONDO:0013128 familial juvenile hyperuricemic nephropathy type 2 skos:exactMatch DOID:0061119 autosomal dominant tubulointerstitial kidney disease 4 semapv:UnspecifiedMatching MONDO:0013128 familial juvenile hyperuricemic nephropathy type 2 skos:exactMatch MEDGEN:414347 semapv:UnspecifiedMatching MONDO:0013128 familial juvenile hyperuricemic nephropathy type 2 skos:exactMatch OMIM:613092 tubulointerstitial kidney disease, autosomal dominant 4 semapv:UnspecifiedMatching MONDO:0013128 familial juvenile hyperuricemic nephropathy type 2 skos:exactMatch Orphanet:217330 REN-related autosomal dominant tubulointerstitial kidney disease semapv:UnspecifiedMatching MONDO:0013128 familial juvenile hyperuricemic nephropathy type 2 skos:exactMatch SCTID:721840000 semapv:UnspecifiedMatching MONDO:0013128 familial juvenile hyperuricemic nephropathy type 2 skos:exactMatch UMLS:C2751310 semapv:UnspecifiedMatching MONDO:0013128 familial juvenile hyperuricemic nephropathy type 2 skos:exactMatch mesh:C567760 semapv:UnspecifiedMatching MONDO:0013129 cone dystrophy 4 skos:exactMatch MEDGEN:416518 semapv:UnspecifiedMatching MONDO:0013129 cone dystrophy 4 skos:exactMatch NCIT:C164226 Achromatopsia 5 semapv:UnspecifiedMatching MONDO:0013129 cone dystrophy 4 skos:exactMatch OMIM:613093 cone dystrophy 4 semapv:UnspecifiedMatching MONDO:0013129 cone dystrophy 4 skos:exactMatch UMLS:C2751308 semapv:UnspecifiedMatching MONDO:0013129 cone dystrophy 4 skos:exactMatch mesh:C567758 semapv:UnspecifiedMatching MONDO:0013130 isolated microphthalmia 4 skos:exactMatch DOID:0060836 isolated microphthalmia 4 semapv:UnspecifiedMatching MONDO:0013130 isolated microphthalmia 4 skos:exactMatch MEDGEN:414346 semapv:UnspecifiedMatching MONDO:0013130 isolated microphthalmia 4 skos:exactMatch OMIM:613094 microphthalmia, isolated 4 semapv:UnspecifiedMatching MONDO:0013130 isolated microphthalmia 4 skos:exactMatch UMLS:C2751307 semapv:UnspecifiedMatching MONDO:0013130 isolated microphthalmia 4 skos:exactMatch mesh:C567757 semapv:UnspecifiedMatching MONDO:0013131 polycystic kidney disease 2 skos:exactMatch DOID:0110859 polycystic kidney disease 2 semapv:UnspecifiedMatching MONDO:0013131 polycystic kidney disease 2 skos:exactMatch MEDGEN:442699 semapv:UnspecifiedMatching MONDO:0013131 polycystic kidney disease 2 skos:exactMatch NCIT:C123166 Autosomal Dominant Polycystic Kidney Disease Type 2 semapv:UnspecifiedMatching MONDO:0013131 polycystic kidney disease 2 skos:exactMatch OMIM:613095 polycystic kidney disease 2 with or without polycystic liver disease semapv:UnspecifiedMatching MONDO:0013131 polycystic kidney disease 2 skos:exactMatch SCTID:253879006 semapv:UnspecifiedMatching MONDO:0013131 polycystic kidney disease 2 skos:exactMatch UMLS:C2751306 semapv:UnspecifiedMatching MONDO:0013132 hereditary spastic paraplegia 36 skos:exactMatch DOID:0110787 hereditary spastic paraplegia 36 semapv:UnspecifiedMatching MONDO:0013132 hereditary spastic paraplegia 36 skos:exactMatch MEDGEN:422457 semapv:UnspecifiedMatching MONDO:0013132 hereditary spastic paraplegia 36 skos:exactMatch OMIM:613096 spastic paraplegia 36, autosomal dominant semapv:UnspecifiedMatching MONDO:0013132 hereditary spastic paraplegia 36 skos:exactMatch Orphanet:320365 Autosomal dominant spastic paraplegia type 36 semapv:UnspecifiedMatching MONDO:0013132 hereditary spastic paraplegia 36 skos:exactMatch SCTID:723819007 semapv:UnspecifiedMatching MONDO:0013132 hereditary spastic paraplegia 36 skos:exactMatch UMLS:C2936879 semapv:UnspecifiedMatching MONDO:0013132 hereditary spastic paraplegia 36 skos:exactMatch mesh:C567930 semapv:UnspecifiedMatching MONDO:0013133 melanoma, cutaneous malignant, susceptibility to, 5 skos:exactMatch MEDGEN:416516 semapv:UnspecifiedMatching MONDO:0013133 melanoma, cutaneous malignant, susceptibility to, 5 skos:exactMatch OMIM:613099 melanoma, cutaneous malignant, susceptibility to, 5 semapv:UnspecifiedMatching MONDO:0013133 melanoma, cutaneous malignant, susceptibility to, 5 skos:exactMatch UMLS:C2751295 semapv:UnspecifiedMatching MONDO:0013134 glaucoma 1, open angle, O skos:exactMatch MEDGEN:416515 semapv:UnspecifiedMatching MONDO:0013134 glaucoma 1, open angle, O skos:exactMatch OMIM:613100 glaucoma 1, open angle, o semapv:UnspecifiedMatching MONDO:0013134 glaucoma 1, open angle, O skos:exactMatch UMLS:C2751294 semapv:UnspecifiedMatching MONDO:0013134 glaucoma 1, open angle, O skos:exactMatch mesh:C567753 semapv:UnspecifiedMatching MONDO:0013135 familial hemophagocytic lymphohistiocytosis 5 skos:exactMatch DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 semapv:UnspecifiedMatching MONDO:0013135 familial hemophagocytic lymphohistiocytosis 5 skos:exactMatch MEDGEN:416514 semapv:UnspecifiedMatching MONDO:0013135 familial hemophagocytic lymphohistiocytosis 5 skos:exactMatch OMIM:613101 hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease semapv:UnspecifiedMatching MONDO:0013135 familial hemophagocytic lymphohistiocytosis 5 skos:exactMatch UMLS:C2751293 semapv:UnspecifiedMatching MONDO:0013135 familial hemophagocytic lymphohistiocytosis 5 skos:exactMatch mesh:C567752 semapv:UnspecifiedMatching MONDO:0013136 hereditary hypotrichosis with recurrent skin vesicles skos:exactMatch MEDGEN:442697 semapv:UnspecifiedMatching MONDO:0013136 hereditary hypotrichosis with recurrent skin vesicles skos:exactMatch OMIM:613102 hypotrichosis and recurrent skin vesicles semapv:UnspecifiedMatching MONDO:0013136 hereditary hypotrichosis with recurrent skin vesicles skos:exactMatch Orphanet:217407 Hereditary hypotrichosis with recurrent skin vesicles semapv:UnspecifiedMatching MONDO:0013136 hereditary hypotrichosis with recurrent skin vesicles skos:exactMatch SCTID:724350009 semapv:UnspecifiedMatching MONDO:0013136 hereditary hypotrichosis with recurrent skin vesicles skos:exactMatch UMLS:C2751292 semapv:UnspecifiedMatching MONDO:0013136 hereditary hypotrichosis with recurrent skin vesicles skos:exactMatch mesh:C567751 semapv:UnspecifiedMatching MONDO:0013137 choroidal dystrophy, central areolar 2 skos:exactMatch MEDGEN:442696 semapv:UnspecifiedMatching MONDO:0013137 choroidal dystrophy, central areolar 2 skos:exactMatch OMIM:613105 choroidal dystrophy, central areolar 2 semapv:UnspecifiedMatching MONDO:0013137 choroidal dystrophy, central areolar 2 skos:exactMatch UMLS:C2751290 semapv:UnspecifiedMatching MONDO:0013137 choroidal dystrophy, central areolar 2 skos:exactMatch mesh:C567750 semapv:UnspecifiedMatching MONDO:0013138 vertigo, benign recurrent, 2 skos:exactMatch MEDGEN:442695 semapv:UnspecifiedMatching MONDO:0013138 vertigo, benign recurrent, 2 skos:exactMatch OMIM:613106 vertigo, benign recurrent, 2 semapv:UnspecifiedMatching MONDO:0013138 vertigo, benign recurrent, 2 skos:exactMatch UMLS:C2751289 semapv:UnspecifiedMatching MONDO:0013138 vertigo, benign recurrent, 2 skos:exactMatch mesh:C567749 semapv:UnspecifiedMatching MONDO:0013139 neutropenia, severe congenital, 2, autosomal dominant skos:exactMatch DOID:0112131 severe congenital neutropenia 2 semapv:UnspecifiedMatching MONDO:0013139 neutropenia, severe congenital, 2, autosomal dominant skos:exactMatch MEDGEN:413975 semapv:UnspecifiedMatching MONDO:0013139 neutropenia, severe congenital, 2, autosomal dominant skos:exactMatch OMIM:613107 neutropenia, severe congenital, 2, autosomal dominant semapv:UnspecifiedMatching MONDO:0013139 neutropenia, severe congenital, 2, autosomal dominant skos:exactMatch UMLS:C2751288 semapv:UnspecifiedMatching MONDO:0013139 neutropenia, severe congenital, 2, autosomal dominant skos:exactMatch mesh:C567748 semapv:UnspecifiedMatching MONDO:0013140 candidiasis, familial, 4 skos:exactMatch MEDGEN:90958 semapv:UnspecifiedMatching MONDO:0013140 candidiasis, familial, 4 skos:exactMatch OMIM:613108 candidiasis, familial, 4 semapv:UnspecifiedMatching MONDO:0013140 candidiasis, familial, 4 skos:exactMatch SCTID:235073000 semapv:UnspecifiedMatching MONDO:0013140 candidiasis, familial, 4 skos:exactMatch UMLS:C0341024 semapv:UnspecifiedMatching MONDO:0013142 neuropathy, hereditary sensory and autonomic, type 2B skos:exactMatch DOID:0070150 hereditary sensory and autonomic neuropathy type 2B semapv:UnspecifiedMatching MONDO:0013142 neuropathy, hereditary sensory and autonomic, type 2B skos:exactMatch MEDGEN:413474 semapv:UnspecifiedMatching MONDO:0013142 neuropathy, hereditary sensory and autonomic, type 2B skos:exactMatch OMIM:613115 neuropathy, hereditary sensory and autonomic, type 2b semapv:UnspecifiedMatching MONDO:0013142 neuropathy, hereditary sensory and autonomic, type 2B skos:exactMatch UMLS:C2751092 semapv:UnspecifiedMatching MONDO:0013143 hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency skos:exactMatch DOID:0111903 thrombophilia due to HRG deficiency semapv:UnspecifiedMatching MONDO:0013143 hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency skos:exactMatch MEDGEN:416465 semapv:UnspecifiedMatching MONDO:0013143 hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency skos:exactMatch OMIM:613116 thrombophilia due to histidine-rich glycoprotein deficiency semapv:UnspecifiedMatching MONDO:0013143 hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency skos:exactMatch Orphanet:217467 Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency semapv:UnspecifiedMatching MONDO:0013143 hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency skos:exactMatch UMLS:C2751090 semapv:UnspecifiedMatching MONDO:0013143 hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency skos:exactMatch icd11.foundation:1764310021 Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency semapv:UnspecifiedMatching MONDO:0013143 hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency skos:exactMatch mesh:C567737 semapv:UnspecifiedMatching MONDO:0013144 hereditary antithrombin deficiency skos:exactMatch DOID:3755 antithrombin III deficiency semapv:UnspecifiedMatching MONDO:0013144 hereditary antithrombin deficiency skos:exactMatch MEDGEN:75781 semapv:UnspecifiedMatching MONDO:0013144 hereditary antithrombin deficiency skos:exactMatch OMIM:613118 antithrombin 3 deficiency semapv:UnspecifiedMatching MONDO:0013144 hereditary antithrombin deficiency skos:exactMatch Orphanet:82 Hereditary thrombophilia due to congenital antithrombin deficiency semapv:UnspecifiedMatching MONDO:0013144 hereditary antithrombin deficiency skos:exactMatch SCTID:36351005 semapv:UnspecifiedMatching MONDO:0013144 hereditary antithrombin deficiency skos:exactMatch UMLS:C0272375 semapv:UnspecifiedMatching MONDO:0013144 hereditary antithrombin deficiency skos:exactMatch mesh:D020152 semapv:UnspecifiedMatching MONDO:0013145 Brugada syndrome 6 skos:exactMatch DOID:0110223 Brugada syndrome 6 semapv:UnspecifiedMatching MONDO:0013145 Brugada syndrome 6 skos:exactMatch MEDGEN:413473 semapv:UnspecifiedMatching MONDO:0013145 Brugada syndrome 6 skos:exactMatch OMIM:613119 brugada syndrome 6 semapv:UnspecifiedMatching MONDO:0013145 Brugada syndrome 6 skos:exactMatch UMLS:C2751089 semapv:UnspecifiedMatching MONDO:0013145 Brugada syndrome 6 skos:exactMatch mesh:C567735 semapv:UnspecifiedMatching MONDO:0013146 Brugada syndrome 7 skos:exactMatch DOID:0110224 Brugada syndrome 7 semapv:UnspecifiedMatching MONDO:0013146 Brugada syndrome 7 skos:exactMatch MEDGEN:413472 semapv:UnspecifiedMatching MONDO:0013146 Brugada syndrome 7 skos:exactMatch OMIM:613120 brugada syndrome 7 semapv:UnspecifiedMatching MONDO:0013146 Brugada syndrome 7 skos:exactMatch UMLS:C2751088 semapv:UnspecifiedMatching MONDO:0013146 Brugada syndrome 7 skos:exactMatch mesh:C567734 semapv:UnspecifiedMatching MONDO:0013147 dilated cardiomyopathy 1CC skos:exactMatch DOID:0110424 dilated cardiomyopathy 1CC semapv:UnspecifiedMatching MONDO:0013147 dilated cardiomyopathy 1CC skos:exactMatch MEDGEN:413929 semapv:UnspecifiedMatching MONDO:0013147 dilated cardiomyopathy 1CC skos:exactMatch OMIM:613122 cardiomyopathy, dilated, 1cc semapv:UnspecifiedMatching MONDO:0013147 dilated cardiomyopathy 1CC skos:exactMatch UMLS:C2751084 semapv:UnspecifiedMatching MONDO:0013147 dilated cardiomyopathy 1CC skos:exactMatch mesh:C567733 semapv:UnspecifiedMatching MONDO:0013148 Brugada syndrome 8 skos:exactMatch DOID:0110225 Brugada syndrome 8 semapv:UnspecifiedMatching MONDO:0013148 Brugada syndrome 8 skos:exactMatch MEDGEN:413928 semapv:UnspecifiedMatching MONDO:0013148 Brugada syndrome 8 skos:exactMatch OMIM:613123 brugada syndrome 8 semapv:UnspecifiedMatching MONDO:0013148 Brugada syndrome 8 skos:exactMatch UMLS:C2751083 semapv:UnspecifiedMatching MONDO:0013148 Brugada syndrome 8 skos:exactMatch mesh:C567732 semapv:UnspecifiedMatching MONDO:0013149 hydrops fetalis, nonimmune, with gracile bones and dysmorphic features skos:exactMatch MEDGEN:1677588 semapv:UnspecifiedMatching MONDO:0013149 hydrops fetalis, nonimmune, with gracile bones and dysmorphic features skos:exactMatch OMIM:613124 hydrops fetalis, nonimmune, with gracile bones and dysmorphism semapv:UnspecifiedMatching MONDO:0013149 hydrops fetalis, nonimmune, with gracile bones and dysmorphic features skos:exactMatch UMLS:C5193233 semapv:UnspecifiedMatching MONDO:0013149 hydrops fetalis, nonimmune, with gracile bones and dysmorphic features skos:exactMatch mesh:C567731 semapv:UnspecifiedMatching MONDO:0013150 parkinsonism-dystonia, infantile skos:exactMatch MEDGEN:413468 semapv:UnspecifiedMatching MONDO:0013150 parkinsonism-dystonia, infantile skos:exactMatch OMIMPS:613135 Parkinsonism-dystonia, infantile semapv:UnspecifiedMatching MONDO:0013150 parkinsonism-dystonia, infantile skos:exactMatch Orphanet:238455 Infantile dystonia-parkinsonism semapv:UnspecifiedMatching MONDO:0013150 parkinsonism-dystonia, infantile skos:exactMatch UMLS:C2751067 semapv:UnspecifiedMatching MONDO:0013150 parkinsonism-dystonia, infantile skos:exactMatch mesh:C567730 semapv:UnspecifiedMatching MONDO:0013151 choroidal dystrophy, central areolar, 3 skos:exactMatch MEDGEN:442631 semapv:UnspecifiedMatching MONDO:0013151 choroidal dystrophy, central areolar, 3 skos:exactMatch OMIM:613144 choroidal dystrophy, central areolar, 3 semapv:UnspecifiedMatching MONDO:0013151 choroidal dystrophy, central areolar, 3 skos:exactMatch UMLS:C2751055 semapv:UnspecifiedMatching MONDO:0013151 choroidal dystrophy, central areolar, 3 skos:exactMatch mesh:C567729 semapv:UnspecifiedMatching MONDO:0013152 systemic lupus erythematosus, susceptibility to, 14 skos:exactMatch MEDGEN:413921 semapv:UnspecifiedMatching MONDO:0013152 systemic lupus erythematosus, susceptibility to, 14 skos:exactMatch OMIM:613145 systemic lupus erythematosus, susceptibility to, 14 semapv:UnspecifiedMatching MONDO:0013152 systemic lupus erythematosus, susceptibility to, 14 skos:exactMatch UMLS:C2751054 semapv:UnspecifiedMatching MONDO:0013153 inflammatory bowel disease 28 skos:exactMatch DOID:0110899 inflammatory bowel disease 28 semapv:UnspecifiedMatching MONDO:0013153 inflammatory bowel disease 28 skos:exactMatch MEDGEN:442630 semapv:UnspecifiedMatching MONDO:0013153 inflammatory bowel disease 28 skos:exactMatch NCIT:C164676 Inflammatory Bowel Disease 28 semapv:UnspecifiedMatching MONDO:0013153 inflammatory bowel disease 28 skos:exactMatch OMIM:613148 inflammatory bowel disease 28, autosomal recessive semapv:UnspecifiedMatching MONDO:0013153 inflammatory bowel disease 28 skos:exactMatch UMLS:C2751053 semapv:UnspecifiedMatching MONDO:0013153 inflammatory bowel disease 28 skos:exactMatch mesh:C567728 semapv:UnspecifiedMatching MONDO:0013154 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 skos:exactMatch DOID:0111240 congenital muscular dystrophy-dystroglycanopathy type A2 semapv:UnspecifiedMatching MONDO:0013154 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 skos:exactMatch MEDGEN:461761 semapv:UnspecifiedMatching MONDO:0013154 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 skos:exactMatch NCIT:C126742 Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 2 semapv:UnspecifiedMatching MONDO:0013154 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 skos:exactMatch OMIM:613150 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 2 semapv:UnspecifiedMatching MONDO:0013154 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 skos:exactMatch UMLS:C3150411 semapv:UnspecifiedMatching MONDO:0013155 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 skos:exactMatch DOID:0112378 muscular dystrophy-dystroglycanopathy type B3 semapv:UnspecifiedMatching MONDO:0013155 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 skos:exactMatch MEDGEN:461762 semapv:UnspecifiedMatching MONDO:0013155 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 skos:exactMatch OMIM:613151 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 3 semapv:UnspecifiedMatching MONDO:0013155 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 skos:exactMatch UMLS:C3150412 semapv:UnspecifiedMatching MONDO:0013156 muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 skos:exactMatch DOID:0112379 muscular dystrophy-dystroglycanopathy type B4 semapv:UnspecifiedMatching MONDO:0013156 muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 skos:exactMatch MEDGEN:413465 semapv:UnspecifiedMatching MONDO:0013156 muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 skos:exactMatch OMIM:613152 muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type b, 4 semapv:UnspecifiedMatching MONDO:0013156 muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 skos:exactMatch UMLS:C2751052 semapv:UnspecifiedMatching MONDO:0013157 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 skos:exactMatch DOID:0111241 congenital muscular dystrophy-dystroglycanopathy type A5 semapv:UnspecifiedMatching MONDO:0013157 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 skos:exactMatch MEDGEN:461763 semapv:UnspecifiedMatching MONDO:0013157 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 skos:exactMatch OMIM:613153 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 5 semapv:UnspecifiedMatching MONDO:0013157 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 skos:exactMatch UMLS:C3150413 semapv:UnspecifiedMatching MONDO:0013158 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 skos:exactMatch DOID:0111242 congenital muscular dystrophy-dystroglycanopathy type A6 semapv:UnspecifiedMatching MONDO:0013158 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 skos:exactMatch MEDGEN:461764 semapv:UnspecifiedMatching MONDO:0013158 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 skos:exactMatch NCIT:C126743 Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 6 semapv:UnspecifiedMatching MONDO:0013158 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 skos:exactMatch OMIM:613154 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 6 semapv:UnspecifiedMatching MONDO:0013158 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 skos:exactMatch UMLS:C3150414 semapv:UnspecifiedMatching MONDO:0013159 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 skos:exactMatch DOID:0050588 muscular dystrophy-dystroglycanopathy type B1 semapv:UnspecifiedMatching MONDO:0013159 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 skos:exactMatch MEDGEN:1774807 semapv:UnspecifiedMatching MONDO:0013159 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 skos:exactMatch OMIM:613155 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 1 semapv:UnspecifiedMatching MONDO:0013159 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 skos:exactMatch UMLS:C5436962 semapv:UnspecifiedMatching MONDO:0013160 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 skos:exactMatch DOID:0112380 muscular dystrophy-dystroglycanopathy type B2 semapv:UnspecifiedMatching MONDO:0013160 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 skos:exactMatch MEDGEN:461766 semapv:UnspecifiedMatching MONDO:0013160 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 skos:exactMatch NCIT:C126690 Congenital Muscular Dystrophy-Dystroglycanopathy with Mental Retardation Type B2 semapv:UnspecifiedMatching MONDO:0013160 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 skos:exactMatch OMIM:613156 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 2 semapv:UnspecifiedMatching MONDO:0013160 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 skos:exactMatch UMLS:C3150416 semapv:UnspecifiedMatching MONDO:0013161 autosomal recessive limb-girdle muscular dystrophy type 2O skos:exactMatch DOID:0110292 autosomal recessive limb-girdle muscular dystrophy type 2O semapv:UnspecifiedMatching MONDO:0013161 autosomal recessive limb-girdle muscular dystrophy type 2O skos:exactMatch MEDGEN:461767 semapv:UnspecifiedMatching MONDO:0013161 autosomal recessive limb-girdle muscular dystrophy type 2O skos:exactMatch OMIM:613157 muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 3 semapv:UnspecifiedMatching MONDO:0013161 autosomal recessive limb-girdle muscular dystrophy type 2O skos:exactMatch Orphanet:206564 POMGNT1-related limb-girdle muscular dystrophy R15 semapv:UnspecifiedMatching MONDO:0013161 autosomal recessive limb-girdle muscular dystrophy type 2O skos:exactMatch UMLS:C3150417 semapv:UnspecifiedMatching MONDO:0013162 autosomal recessive limb-girdle muscular dystrophy type 2N skos:exactMatch DOID:0110298 autosomal recessive limb-girdle muscular dystrophy type 2N semapv:UnspecifiedMatching MONDO:0013162 autosomal recessive limb-girdle muscular dystrophy type 2N skos:exactMatch MEDGEN:461768 semapv:UnspecifiedMatching MONDO:0013162 autosomal recessive limb-girdle muscular dystrophy type 2N skos:exactMatch OMIM:613158 muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 2 semapv:UnspecifiedMatching MONDO:0013162 autosomal recessive limb-girdle muscular dystrophy type 2N skos:exactMatch Orphanet:206559 POMT2-related limb-girdle muscular dystrophy R14 semapv:UnspecifiedMatching MONDO:0013162 autosomal recessive limb-girdle muscular dystrophy type 2N skos:exactMatch UMLS:C3150418 semapv:UnspecifiedMatching MONDO:0013163 nephronophthisis-like nephropathy 1 skos:exactMatch DOID:0111117 nephronophthisis-like nephropathy 1 semapv:UnspecifiedMatching MONDO:0013163 nephronophthisis-like nephropathy 1 skos:exactMatch MEDGEN:461769 semapv:UnspecifiedMatching MONDO:0013163 nephronophthisis-like nephropathy 1 skos:exactMatch OMIM:613159 nephronophthisis-like nephropathy 1 semapv:UnspecifiedMatching MONDO:0013163 nephronophthisis-like nephropathy 1 skos:exactMatch UMLS:C3150419 semapv:UnspecifiedMatching MONDO:0013164 beta-ureidopropionase deficiency skos:exactMatch MEDGEN:226944 semapv:UnspecifiedMatching MONDO:0013164 beta-ureidopropionase deficiency skos:exactMatch OMIM:613161 beta-ureidopropionase deficiency semapv:UnspecifiedMatching MONDO:0013164 beta-ureidopropionase deficiency skos:exactMatch Orphanet:65287 Beta-ureidopropionase deficiency semapv:UnspecifiedMatching MONDO:0013164 beta-ureidopropionase deficiency skos:exactMatch SCTID:124511000 semapv:UnspecifiedMatching MONDO:0013164 beta-ureidopropionase deficiency skos:exactMatch UMLS:C1291512 semapv:UnspecifiedMatching MONDO:0013164 beta-ureidopropionase deficiency skos:exactMatch icd11.foundation:1227425060 Beta-ureidopropionase deficiency semapv:UnspecifiedMatching MONDO:0013164 beta-ureidopropionase deficiency skos:exactMatch mesh:C563210 semapv:UnspecifiedMatching MONDO:0013165 hereditary spastic paraplegia 45 skos:exactMatch DOID:0110797 hereditary spastic paraplegia 45 semapv:UnspecifiedMatching MONDO:0013165 hereditary spastic paraplegia 45 skos:exactMatch MEDGEN:854816 semapv:UnspecifiedMatching MONDO:0013165 hereditary spastic paraplegia 45 skos:exactMatch OMIM:613162 spastic paraplegia 45, autosomal recessive semapv:UnspecifiedMatching MONDO:0013165 hereditary spastic paraplegia 45 skos:exactMatch Orphanet:320396 Autosomal recessive spastic paraplegia type 45 semapv:UnspecifiedMatching MONDO:0013165 hereditary spastic paraplegia 45 skos:exactMatch SCTID:765753004 semapv:UnspecifiedMatching MONDO:0013165 hereditary spastic paraplegia 45 skos:exactMatch UMLS:C3888209 semapv:UnspecifiedMatching MONDO:0013166 GABA aminotransaminase deficiency skos:exactMatch DOID:0060174 GABA aminotransferase deficiency semapv:UnspecifiedMatching MONDO:0013166 GABA aminotransaminase deficiency skos:exactMatch MEDGEN:137977 semapv:UnspecifiedMatching MONDO:0013166 GABA aminotransaminase deficiency skos:exactMatch OMIM:613163 gaba-transaminase deficiency semapv:UnspecifiedMatching MONDO:0013166 GABA aminotransaminase deficiency skos:exactMatch Orphanet:2066 Gamma-aminobutyric acid transaminase deficiency semapv:UnspecifiedMatching MONDO:0013166 GABA aminotransaminase deficiency skos:exactMatch SCTID:237941007 semapv:UnspecifiedMatching MONDO:0013166 GABA aminotransaminase deficiency skos:exactMatch UMLS:C0342708 semapv:UnspecifiedMatching MONDO:0013166 GABA aminotransaminase deficiency skos:exactMatch mesh:C535407 semapv:UnspecifiedMatching MONDO:0013167 Parkinson disease 16 skos:exactMatch MEDGEN:442620 semapv:UnspecifiedMatching MONDO:0013167 Parkinson disease 16 skos:exactMatch OMIM:613164 parkinson disease 16 semapv:UnspecifiedMatching MONDO:0013167 Parkinson disease 16 skos:exactMatch UMLS:C2751012 semapv:UnspecifiedMatching MONDO:0013167 Parkinson disease 16 skos:exactMatch mesh:C567726 semapv:UnspecifiedMatching MONDO:0013168 dilated cardiomyopathy 1DD skos:exactMatch DOID:0110447 dilated cardiomyopathy 1DD semapv:UnspecifiedMatching MONDO:0013168 dilated cardiomyopathy 1DD skos:exactMatch MEDGEN:416441 semapv:UnspecifiedMatching MONDO:0013168 dilated cardiomyopathy 1DD skos:exactMatch OMIM:613172 cardiomyopathy, dilated, 1dd semapv:UnspecifiedMatching MONDO:0013168 dilated cardiomyopathy 1DD skos:exactMatch UMLS:C2750995 semapv:UnspecifiedMatching MONDO:0013168 dilated cardiomyopathy 1DD skos:exactMatch mesh:C567725 semapv:UnspecifiedMatching MONDO:0013169 chromosome 5p13 duplication syndrome skos:exactMatch DOID:0060460 chromosome 5p13 duplication syndrome semapv:UnspecifiedMatching MONDO:0013169 chromosome 5p13 duplication syndrome skos:exactMatch MEDGEN:416385 semapv:UnspecifiedMatching MONDO:0013169 chromosome 5p13 duplication syndrome skos:exactMatch OMIM:613174 chromosome 5p13 duplication syndrome semapv:UnspecifiedMatching MONDO:0013169 chromosome 5p13 duplication syndrome skos:exactMatch Orphanet:329802 5p13 microduplication syndrome semapv:UnspecifiedMatching MONDO:0013169 chromosome 5p13 duplication syndrome skos:exactMatch UMLS:C2750805 semapv:UnspecifiedMatching MONDO:0013169 chromosome 5p13 duplication syndrome skos:exactMatch mesh:C567717 semapv:UnspecifiedMatching MONDO:0013170 cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies skos:exactMatch DOID:0070139 autosomal recessive cutis laxa type IC semapv:UnspecifiedMatching MONDO:0013170 cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies skos:exactMatch MEDGEN:442566 semapv:UnspecifiedMatching MONDO:0013170 cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies skos:exactMatch OMIM:613177 cutis laxa, autosomal recessive, type 1c semapv:UnspecifiedMatching MONDO:0013170 cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies skos:exactMatch Orphanet:221145 Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies semapv:UnspecifiedMatching MONDO:0013170 cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies skos:exactMatch UMLS:C2750804 semapv:UnspecifiedMatching MONDO:0013170 cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies skos:exactMatch icd11.foundation:424903269 Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies semapv:UnspecifiedMatching MONDO:0013170 cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies skos:exactMatch mesh:C567716 semapv:UnspecifiedMatching MONDO:0013171 purine nucleoside phosphorylase deficiency skos:exactMatch DOID:5813 purine nucleoside phosphorylase deficiency semapv:UnspecifiedMatching MONDO:0013171 purine nucleoside phosphorylase deficiency skos:exactMatch MEDGEN:75653 semapv:UnspecifiedMatching MONDO:0013171 purine nucleoside phosphorylase deficiency skos:exactMatch NCIT:C176817 Purine Nucleoside Phosphorylase Deficiency semapv:UnspecifiedMatching MONDO:0013171 purine nucleoside phosphorylase deficiency skos:exactMatch OMIM:613179 purine nucleoside phosphorylase deficiency semapv:UnspecifiedMatching MONDO:0013171 purine nucleoside phosphorylase deficiency skos:exactMatch Orphanet:760 Purine nucleoside phosphorylase deficiency semapv:UnspecifiedMatching MONDO:0013171 purine nucleoside phosphorylase deficiency skos:exactMatch SCTID:60743005 semapv:UnspecifiedMatching MONDO:0013171 purine nucleoside phosphorylase deficiency skos:exactMatch UMLS:C0268125 semapv:UnspecifiedMatching MONDO:0013171 purine nucleoside phosphorylase deficiency skos:exactMatch mesh:C562587 semapv:UnspecifiedMatching MONDO:0013172 polymicrogyria with optic nerve hypoplasia skos:exactMatch MEDGEN:442565 semapv:UnspecifiedMatching MONDO:0013172 polymicrogyria with optic nerve hypoplasia skos:exactMatch Orphanet:250972 Polymicrogyria with optic nerve hypoplasia semapv:UnspecifiedMatching MONDO:0013172 polymicrogyria with optic nerve hypoplasia skos:exactMatch UMLS:C2750798 semapv:UnspecifiedMatching MONDO:0013172 polymicrogyria with optic nerve hypoplasia skos:exactMatch mesh:C567715 semapv:UnspecifiedMatching MONDO:0013173 intellectual disability, autosomal recessive 13 skos:exactMatch DOID:0081098 autosomal recessive intellectual developmental disorder 13 semapv:UnspecifiedMatching MONDO:0013173 intellectual disability, autosomal recessive 13 skos:exactMatch MEDGEN:442564 semapv:UnspecifiedMatching MONDO:0013173 intellectual disability, autosomal recessive 13 skos:exactMatch OMIM:613192 intellectual developmental disorder, autosomal recessive 13 semapv:UnspecifiedMatching MONDO:0013173 intellectual disability, autosomal recessive 13 skos:exactMatch UMLS:C2750791 semapv:UnspecifiedMatching MONDO:0013173 intellectual disability, autosomal recessive 13 skos:exactMatch mesh:C567714 semapv:UnspecifiedMatching MONDO:0013174 primary ciliary dyskinesia 13 skos:exactMatch DOID:0110618 primary ciliary dyskinesia 13 semapv:UnspecifiedMatching MONDO:0013174 primary ciliary dyskinesia 13 skos:exactMatch MEDGEN:413399 semapv:UnspecifiedMatching MONDO:0013174 primary ciliary dyskinesia 13 skos:exactMatch OMIM:613193 ciliary dyskinesia, primary, 13 semapv:UnspecifiedMatching MONDO:0013174 primary ciliary dyskinesia 13 skos:exactMatch UMLS:C2750790 semapv:UnspecifiedMatching MONDO:0013174 primary ciliary dyskinesia 13 skos:exactMatch mesh:C567713 semapv:UnspecifiedMatching MONDO:0013175 retinitis pigmentosa 50 skos:exactMatch DOID:0110396 retinitis pigmentosa 50 semapv:UnspecifiedMatching MONDO:0013175 retinitis pigmentosa 50 skos:exactMatch MEDGEN:442563 semapv:UnspecifiedMatching MONDO:0013175 retinitis pigmentosa 50 skos:exactMatch OMIM:613194 retinitis pigmentosa 50 semapv:UnspecifiedMatching MONDO:0013175 retinitis pigmentosa 50 skos:exactMatch UMLS:C2750789 semapv:UnspecifiedMatching MONDO:0013175 retinitis pigmentosa 50 skos:exactMatch mesh:C567712 semapv:UnspecifiedMatching MONDO:0013176 Weill-Marchesani 4 syndrome, recessive skos:exactMatch MEDGEN:416383 semapv:UnspecifiedMatching MONDO:0013176 Weill-Marchesani 4 syndrome, recessive skos:exactMatch OMIM:613195 weill-marchesani syndrome 4 semapv:UnspecifiedMatching MONDO:0013176 Weill-Marchesani 4 syndrome, recessive skos:exactMatch Orphanet:363992 Ichthyosis-short stature-brachydactyly-microspherophakia syndrome semapv:UnspecifiedMatching MONDO:0013176 Weill-Marchesani 4 syndrome, recessive skos:exactMatch UMLS:C2750787 semapv:UnspecifiedMatching MONDO:0013176 Weill-Marchesani 4 syndrome, recessive skos:exactMatch mesh:C567710 semapv:UnspecifiedMatching MONDO:0013177 congenital muscular dystrophy due to integrin alpha-7 deficiency skos:exactMatch DOID:0110639 congenital muscular dystrophy due to integrin alpha-7 deficiency semapv:UnspecifiedMatching MONDO:0013177 congenital muscular dystrophy due to integrin alpha-7 deficiency skos:exactMatch MEDGEN:413044 semapv:UnspecifiedMatching MONDO:0013177 congenital muscular dystrophy due to integrin alpha-7 deficiency skos:exactMatch OMIM:613204 muscular dystrophy, congenital, due to integrin alpha-7 deficiency semapv:UnspecifiedMatching MONDO:0013177 congenital muscular dystrophy due to integrin alpha-7 deficiency skos:exactMatch Orphanet:34520 Congenital muscular dystrophy with integrin alpha-7 deficiency semapv:UnspecifiedMatching MONDO:0013177 congenital muscular dystrophy due to integrin alpha-7 deficiency skos:exactMatch UMLS:C2750786 semapv:UnspecifiedMatching MONDO:0013177 congenital muscular dystrophy due to integrin alpha-7 deficiency skos:exactMatch mesh:C567709 semapv:UnspecifiedMatching MONDO:0013178 congenital muscular dystrophy due to LMNA mutation skos:exactMatch DOID:0110640 congenital muscular dystrophy due to LMNA mutation semapv:UnspecifiedMatching MONDO:0013178 congenital muscular dystrophy due to LMNA mutation skos:exactMatch MEDGEN:413043 semapv:UnspecifiedMatching MONDO:0013178 congenital muscular dystrophy due to LMNA mutation skos:exactMatch NCIT:C148369 Muscular Dystrophy Congenital, LMNA-Related semapv:UnspecifiedMatching MONDO:0013178 congenital muscular dystrophy due to LMNA mutation skos:exactMatch OMIM:613205 muscular dystrophy, congenital, lmna-related semapv:UnspecifiedMatching MONDO:0013178 congenital muscular dystrophy due to LMNA mutation skos:exactMatch Orphanet:157973 Congenital muscular dystrophy due to LMNA mutation semapv:UnspecifiedMatching MONDO:0013178 congenital muscular dystrophy due to LMNA mutation skos:exactMatch UMLS:C2750785 semapv:UnspecifiedMatching MONDO:0013178 congenital muscular dystrophy due to LMNA mutation skos:exactMatch mesh:C567708 semapv:UnspecifiedMatching MONDO:0013179 hereditary spastic paraplegia 44 skos:exactMatch DOID:0110796 hereditary spastic paraplegia 44 semapv:UnspecifiedMatching MONDO:0013179 hereditary spastic paraplegia 44 skos:exactMatch MEDGEN:413042 semapv:UnspecifiedMatching MONDO:0013179 hereditary spastic paraplegia 44 skos:exactMatch OMIM:613206 spastic paraplegia 44, autosomal recessive semapv:UnspecifiedMatching MONDO:0013179 hereditary spastic paraplegia 44 skos:exactMatch Orphanet:320401 Autosomal recessive spastic paraplegia type 44 semapv:UnspecifiedMatching MONDO:0013179 hereditary spastic paraplegia 44 skos:exactMatch SCTID:723821002 semapv:UnspecifiedMatching MONDO:0013179 hereditary spastic paraplegia 44 skos:exactMatch UMLS:C2750784 semapv:UnspecifiedMatching MONDO:0013179 hereditary spastic paraplegia 44 skos:exactMatch mesh:C567707 semapv:UnspecifiedMatching MONDO:0013180 asthma-related traits, susceptibility to, 8 skos:exactMatch MEDGEN:442562 semapv:UnspecifiedMatching MONDO:0013180 asthma-related traits, susceptibility to, 8 skos:exactMatch OMIM:613207 asthma-related traits, susceptibility to, 8 semapv:UnspecifiedMatching MONDO:0013180 asthma-related traits, susceptibility to, 8 skos:exactMatch UMLS:C2750782 semapv:UnspecifiedMatching MONDO:0013181 amelogenesis imperfecta hypomaturation type 2A3 skos:exactMatch DOID:0110061 amelogenesis imperfecta hypomaturation type 2A3 semapv:UnspecifiedMatching MONDO:0013181 amelogenesis imperfecta hypomaturation type 2A3 skos:exactMatch MEDGEN:416381 semapv:UnspecifiedMatching MONDO:0013181 amelogenesis imperfecta hypomaturation type 2A3 skos:exactMatch OMIM:613211 amelogenesis imperfecta, hypomaturation type, iia3 semapv:UnspecifiedMatching MONDO:0013181 amelogenesis imperfecta hypomaturation type 2A3 skos:exactMatch UMLS:C2750771 semapv:UnspecifiedMatching MONDO:0013181 amelogenesis imperfecta hypomaturation type 2A3 skos:exactMatch mesh:C567706 semapv:UnspecifiedMatching MONDO:0013182 chromosome 17p13.3 duplication syndrome skos:exactMatch DOID:0060432 chromosome 17p13.3 duplication syndrome semapv:UnspecifiedMatching MONDO:0013182 chromosome 17p13.3 duplication syndrome skos:exactMatch MEDGEN:814630 semapv:UnspecifiedMatching MONDO:0013182 chromosome 17p13.3 duplication syndrome skos:exactMatch OMIM:613215 chromosome 17p13.3, centromeric, duplication syndrome semapv:UnspecifiedMatching MONDO:0013182 chromosome 17p13.3 duplication syndrome skos:exactMatch Orphanet:217385 17p13.3 microduplication syndrome semapv:UnspecifiedMatching MONDO:0013182 chromosome 17p13.3 duplication syndrome skos:exactMatch SCTID:719582007 semapv:UnspecifiedMatching MONDO:0013182 chromosome 17p13.3 duplication syndrome skos:exactMatch UMLS:C3808300 semapv:UnspecifiedMatching MONDO:0013182 chromosome 17p13.3 duplication syndrome skos:exactMatch mesh:C567705 semapv:UnspecifiedMatching MONDO:0013183 congenital stationary night blindness 1C skos:exactMatch DOID:0110867 congenital stationary night blindness 1C semapv:UnspecifiedMatching MONDO:0013183 congenital stationary night blindness 1C skos:exactMatch MEDGEN:416373 semapv:UnspecifiedMatching MONDO:0013183 congenital stationary night blindness 1C skos:exactMatch OMIM:613216 night blindness, congenital stationary, type 1c semapv:UnspecifiedMatching MONDO:0013183 congenital stationary night blindness 1C skos:exactMatch UMLS:C2750747 semapv:UnspecifiedMatching MONDO:0013183 congenital stationary night blindness 1C skos:exactMatch mesh:C567704 semapv:UnspecifiedMatching MONDO:0013184 congenital diarrhea 5 with tufting enteropathy skos:exactMatch DOID:0060776 congenital diarrhea 5 with tufting enteropathy semapv:UnspecifiedMatching MONDO:0013184 congenital diarrhea 5 with tufting enteropathy skos:exactMatch MEDGEN:413031 semapv:UnspecifiedMatching MONDO:0013184 congenital diarrhea 5 with tufting enteropathy skos:exactMatch OMIM:613217 diarrhea 5, with tufting enteropathy, congenital semapv:UnspecifiedMatching MONDO:0013184 congenital diarrhea 5 with tufting enteropathy skos:exactMatch Orphanet:92050 Congenital tufting enteropathy semapv:UnspecifiedMatching MONDO:0013184 congenital diarrhea 5 with tufting enteropathy skos:exactMatch SCTID:715669000 semapv:UnspecifiedMatching MONDO:0013184 congenital diarrhea 5 with tufting enteropathy skos:exactMatch UMLS:C2750737 semapv:UnspecifiedMatching MONDO:0013184 congenital diarrhea 5 with tufting enteropathy skos:exactMatch icd11.foundation:1536004957 Intestinal epithelial dysplasia semapv:UnspecifiedMatching MONDO:0013184 congenital diarrhea 5 with tufting enteropathy skos:exactMatch mesh:C567703 semapv:UnspecifiedMatching MONDO:0013185 leprosy, susceptibility to, 5 skos:exactMatch MEDGEN:442551 semapv:UnspecifiedMatching MONDO:0013185 leprosy, susceptibility to, 5 skos:exactMatch OMIM:613223 leprosy, susceptibility to, 5 semapv:UnspecifiedMatching MONDO:0013185 leprosy, susceptibility to, 5 skos:exactMatch UMLS:C2750733 semapv:UnspecifiedMatching MONDO:0013186 Noonan syndrome 6 skos:exactMatch DOID:0060584 Noonan syndrome 6 semapv:UnspecifiedMatching MONDO:0013186 Noonan syndrome 6 skos:exactMatch MEDGEN:413028 semapv:UnspecifiedMatching MONDO:0013186 Noonan syndrome 6 skos:exactMatch NCIT:C176934 Noonan Syndrome 6 semapv:UnspecifiedMatching MONDO:0013186 Noonan syndrome 6 skos:exactMatch OMIM:613224 noonan syndrome 6 semapv:UnspecifiedMatching MONDO:0013186 Noonan syndrome 6 skos:exactMatch UMLS:C2750732 semapv:UnspecifiedMatching MONDO:0013186 Noonan syndrome 6 skos:exactMatch mesh:C548084 semapv:UnspecifiedMatching MONDO:0013187 factor XIII, A subunit, deficiency of skos:exactMatch MEDGEN:442497 semapv:UnspecifiedMatching MONDO:0013187 factor XIII, A subunit, deficiency of skos:exactMatch OMIM:613225 factor xiii, a subunit, deficiency of semapv:UnspecifiedMatching MONDO:0013187 factor XIII, A subunit, deficiency of skos:exactMatch SCTID:439455002 semapv:UnspecifiedMatching MONDO:0013187 factor XIII, A subunit, deficiency of skos:exactMatch UMLS:C2750514 semapv:UnspecifiedMatching MONDO:0013187 factor XIII, A subunit, deficiency of skos:exactMatch mesh:C567691 semapv:UnspecifiedMatching MONDO:0013188 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 skos:exactMatch DOID:0070558 autosomal recessive spinocerebellar ataxia 34 semapv:UnspecifiedMatching MONDO:0013188 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 skos:exactMatch MEDGEN:442496 semapv:UnspecifiedMatching MONDO:0013188 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 skos:exactMatch OMIM:613227 spinocerebellar ataxia, autosomal recessive 34 semapv:UnspecifiedMatching MONDO:0013188 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 skos:exactMatch UMLS:C2750509 semapv:UnspecifiedMatching MONDO:0013188 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 skos:exactMatch mesh:C567690 semapv:UnspecifiedMatching MONDO:0013189 trichotillomania skos:exactMatch DOID:0050587 trichotillomania semapv:UnspecifiedMatching MONDO:0013189 trichotillomania skos:exactMatch ICD10CM:F63.3 Trichotillomania semapv:UnspecifiedMatching MONDO:0013189 trichotillomania skos:exactMatch MEDGEN:21654 semapv:UnspecifiedMatching MONDO:0013189 trichotillomania skos:exactMatch NCIT:C94336 Trichotillomania semapv:UnspecifiedMatching MONDO:0013189 trichotillomania skos:exactMatch OMIM:613229 trichotillomania semapv:UnspecifiedMatching MONDO:0013189 trichotillomania skos:exactMatch SCTID:17155009 semapv:UnspecifiedMatching MONDO:0013189 trichotillomania skos:exactMatch UMLS:C0040953 semapv:UnspecifiedMatching MONDO:0013189 trichotillomania skos:exactMatch icd11.foundation:1253999657 Trichotillomania semapv:UnspecifiedMatching MONDO:0013189 trichotillomania skos:exactMatch mesh:D014256 semapv:UnspecifiedMatching MONDO:0013190 factor XIII, b subunit, deficiency of skos:exactMatch MEDGEN:442490 semapv:UnspecifiedMatching MONDO:0013190 factor XIII, b subunit, deficiency of skos:exactMatch OMIM:613235 factor xiii, B subunit, deficiency of semapv:UnspecifiedMatching MONDO:0013190 factor XIII, b subunit, deficiency of skos:exactMatch UMLS:C2750481 semapv:UnspecifiedMatching MONDO:0013190 factor XIII, b subunit, deficiency of skos:exactMatch mesh:C567688 semapv:UnspecifiedMatching MONDO:0013191 focal segmental glomerulosclerosis 5 skos:exactMatch DOID:0111130 focal segmental glomerulosclerosis 5 semapv:UnspecifiedMatching MONDO:0013191 focal segmental glomerulosclerosis 5 skos:exactMatch MEDGEN:413315 semapv:UnspecifiedMatching MONDO:0013191 focal segmental glomerulosclerosis 5 skos:exactMatch OMIM:613237 focal segmental glomerulosclerosis 5 semapv:UnspecifiedMatching MONDO:0013191 focal segmental glomerulosclerosis 5 skos:exactMatch UMLS:C2750475 semapv:UnspecifiedMatching MONDO:0013191 focal segmental glomerulosclerosis 5 skos:exactMatch mesh:C567687 semapv:UnspecifiedMatching MONDO:0013192 spondyloarthropathy, susceptibility to, 3 skos:exactMatch DOID:0080605 ankylosing spondylitis 3 semapv:UnspecifiedMatching MONDO:0013192 spondyloarthropathy, susceptibility to, 3 skos:exactMatch MEDGEN:413852 semapv:UnspecifiedMatching MONDO:0013192 spondyloarthropathy, susceptibility to, 3 skos:exactMatch OMIM:613238 spondyloarthropathy, susceptibility to, 3 semapv:UnspecifiedMatching MONDO:0013192 spondyloarthropathy, susceptibility to, 3 skos:exactMatch UMLS:C2750474 semapv:UnspecifiedMatching MONDO:0013193 thyrotoxic periodic paralysis, susceptibility to, 2 skos:exactMatch MEDGEN:413851 semapv:UnspecifiedMatching MONDO:0013193 thyrotoxic periodic paralysis, susceptibility to, 2 skos:exactMatch OMIM:613239 thyrotoxic periodic paralysis, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0013193 thyrotoxic periodic paralysis, susceptibility to, 2 skos:exactMatch UMLS:C2750473 semapv:UnspecifiedMatching MONDO:0013194 Pseudopili annulati skos:exactMatch MEDGEN:461813 semapv:UnspecifiedMatching MONDO:0013194 Pseudopili annulati skos:exactMatch OMIM:613241 pseudopili annulati semapv:UnspecifiedMatching MONDO:0013194 Pseudopili annulati skos:exactMatch UMLS:C3150463 semapv:UnspecifiedMatching MONDO:0013195 hypertrophic cardiomyopathy 13 skos:exactMatch DOID:0110319 hypertrophic cardiomyopathy 13 semapv:UnspecifiedMatching MONDO:0013195 hypertrophic cardiomyopathy 13 skos:exactMatch MEDGEN:442487 semapv:UnspecifiedMatching MONDO:0013195 hypertrophic cardiomyopathy 13 skos:exactMatch OMIM:613243 cardiomyopathy, familial hypertrophic, 13 semapv:UnspecifiedMatching MONDO:0013195 hypertrophic cardiomyopathy 13 skos:exactMatch UMLS:C2750472 semapv:UnspecifiedMatching MONDO:0013195 hypertrophic cardiomyopathy 13 skos:exactMatch mesh:C567686 semapv:UnspecifiedMatching MONDO:0013196 Lynch syndrome 8 skos:exactMatch DOID:0070270 hereditary nonpolyposis colorectal cancer type 8 semapv:UnspecifiedMatching MONDO:0013196 Lynch syndrome 8 skos:exactMatch MEDGEN:412966 semapv:UnspecifiedMatching MONDO:0013196 Lynch syndrome 8 skos:exactMatch OMIM:613244 lynch syndrome 8 semapv:UnspecifiedMatching MONDO:0013196 Lynch syndrome 8 skos:exactMatch UMLS:C2750471 semapv:UnspecifiedMatching MONDO:0013196 Lynch syndrome 8 skos:exactMatch mesh:C567685 semapv:UnspecifiedMatching MONDO:0013197 hypertrophic cardiomyopathy 14 skos:exactMatch DOID:0110320 hypertrophic cardiomyopathy 14 semapv:UnspecifiedMatching MONDO:0013197 hypertrophic cardiomyopathy 14 skos:exactMatch MEDGEN:442484 semapv:UnspecifiedMatching MONDO:0013197 hypertrophic cardiomyopathy 14 skos:exactMatch OMIM:613251 cardiomyopathy, familial hypertrophic, 14 semapv:UnspecifiedMatching MONDO:0013197 hypertrophic cardiomyopathy 14 skos:exactMatch UMLS:C2750467 semapv:UnspecifiedMatching MONDO:0013197 hypertrophic cardiomyopathy 14 skos:exactMatch mesh:C567684 semapv:UnspecifiedMatching MONDO:0013198 dilated cardiomyopathy 1EE skos:exactMatch DOID:0110453 dilated cardiomyopathy 1EE semapv:UnspecifiedMatching MONDO:0013198 dilated cardiomyopathy 1EE skos:exactMatch MEDGEN:412965 semapv:UnspecifiedMatching MONDO:0013198 dilated cardiomyopathy 1EE skos:exactMatch OMIM:613252 cardiomyopathy, dilated, 1ee semapv:UnspecifiedMatching MONDO:0013198 dilated cardiomyopathy 1EE skos:exactMatch UMLS:C2750466 semapv:UnspecifiedMatching MONDO:0013198 dilated cardiomyopathy 1EE skos:exactMatch mesh:C567683 semapv:UnspecifiedMatching MONDO:0013199 tuberous sclerosis 2 skos:exactMatch DOID:0080325 tuberous sclerosis 2 semapv:UnspecifiedMatching MONDO:0013199 tuberous sclerosis 2 skos:exactMatch MEDGEN:348170 semapv:UnspecifiedMatching MONDO:0013199 tuberous sclerosis 2 skos:exactMatch NCIT:C75331 Tuberous Sclerosis 2 semapv:UnspecifiedMatching MONDO:0013199 tuberous sclerosis 2 skos:exactMatch OMIM:613254 tuberous sclerosis 2 semapv:UnspecifiedMatching MONDO:0013199 tuberous sclerosis 2 skos:exactMatch UMLS:C1860707 semapv:UnspecifiedMatching MONDO:0013199 tuberous sclerosis 2 skos:exactMatch mesh:C566021 semapv:UnspecifiedMatching MONDO:0013200 hypertrophic cardiomyopathy 15 skos:exactMatch DOID:0110321 hypertrophic cardiomyopathy 15 semapv:UnspecifiedMatching MONDO:0013200 hypertrophic cardiomyopathy 15 skos:exactMatch MEDGEN:413312 semapv:UnspecifiedMatching MONDO:0013200 hypertrophic cardiomyopathy 15 skos:exactMatch OMIM:613255 cardiomyopathy, familial hypertrophic, 15 semapv:UnspecifiedMatching MONDO:0013200 hypertrophic cardiomyopathy 15 skos:exactMatch UMLS:C2750459 semapv:UnspecifiedMatching MONDO:0013200 hypertrophic cardiomyopathy 15 skos:exactMatch mesh:C567681 semapv:UnspecifiedMatching MONDO:0013201 Waardenburg syndrome type 4B skos:exactMatch DOID:0110954 Waardenburg syndrome type 4B semapv:UnspecifiedMatching MONDO:0013201 Waardenburg syndrome type 4B skos:exactMatch MEDGEN:412961 semapv:UnspecifiedMatching MONDO:0013201 Waardenburg syndrome type 4B skos:exactMatch OMIM:613265 waardenburg syndrome, type 4b semapv:UnspecifiedMatching MONDO:0013201 Waardenburg syndrome type 4B skos:exactMatch UMLS:C2750457 semapv:UnspecifiedMatching MONDO:0013201 Waardenburg syndrome type 4B skos:exactMatch mesh:C567680 semapv:UnspecifiedMatching MONDO:0013202 Waardenburg syndrome type 4C skos:exactMatch DOID:0110955 Waardenburg syndrome type 4C semapv:UnspecifiedMatching MONDO:0013202 Waardenburg syndrome type 4C skos:exactMatch MEDGEN:413310 semapv:UnspecifiedMatching MONDO:0013202 Waardenburg syndrome type 4C skos:exactMatch OMIM:613266 waardenburg syndrome, type 4c semapv:UnspecifiedMatching MONDO:0013202 Waardenburg syndrome type 4C skos:exactMatch UMLS:C2750452 semapv:UnspecifiedMatching MONDO:0013202 Waardenburg syndrome type 4C skos:exactMatch mesh:C567679 semapv:UnspecifiedMatching MONDO:0013203 corneal dystrophy, Fuchs endothelial, 3 skos:exactMatch MEDGEN:442479 semapv:UnspecifiedMatching MONDO:0013203 corneal dystrophy, Fuchs endothelial, 3 skos:exactMatch OMIM:613267 corneal dystrophy, fuchs endothelial, 3 semapv:UnspecifiedMatching MONDO:0013203 corneal dystrophy, Fuchs endothelial, 3 skos:exactMatch UMLS:C2750451 semapv:UnspecifiedMatching MONDO:0013203 corneal dystrophy, Fuchs endothelial, 3 skos:exactMatch mesh:C567678 semapv:UnspecifiedMatching MONDO:0013204 corneal dystrophy, Fuchs endothelial, 4 skos:exactMatch MEDGEN:413309 semapv:UnspecifiedMatching MONDO:0013204 corneal dystrophy, Fuchs endothelial, 4 skos:exactMatch OMIM:613268 corneal dystrophy, fuchs endothelial, 4 semapv:UnspecifiedMatching MONDO:0013204 corneal dystrophy, Fuchs endothelial, 4 skos:exactMatch UMLS:C2750450 semapv:UnspecifiedMatching MONDO:0013204 corneal dystrophy, Fuchs endothelial, 4 skos:exactMatch mesh:C567677 semapv:UnspecifiedMatching MONDO:0013205 corneal dystrophy, fuchs endothelial, 5 skos:exactMatch MEDGEN:413308 semapv:UnspecifiedMatching MONDO:0013205 corneal dystrophy, fuchs endothelial, 5 skos:exactMatch OMIM:613269 corneal dystrophy, fuchs endothelial, 5 semapv:UnspecifiedMatching MONDO:0013205 corneal dystrophy, fuchs endothelial, 5 skos:exactMatch UMLS:C2750449 semapv:UnspecifiedMatching MONDO:0013205 corneal dystrophy, fuchs endothelial, 5 skos:exactMatch mesh:C567676 semapv:UnspecifiedMatching MONDO:0013206 corneal dystrophy, Fuchs endothelial, 6 skos:exactMatch MEDGEN:442478 semapv:UnspecifiedMatching MONDO:0013206 corneal dystrophy, Fuchs endothelial, 6 skos:exactMatch OMIM:613270 corneal dystrophy, fuchs endothelial, 6 semapv:UnspecifiedMatching MONDO:0013206 corneal dystrophy, Fuchs endothelial, 6 skos:exactMatch UMLS:C2750448 semapv:UnspecifiedMatching MONDO:0013206 corneal dystrophy, Fuchs endothelial, 6 skos:exactMatch mesh:C567675 semapv:UnspecifiedMatching MONDO:0013207 corneal dystrophy, fuchs endothelial, 7 skos:exactMatch MEDGEN:413849 semapv:UnspecifiedMatching MONDO:0013207 corneal dystrophy, fuchs endothelial, 7 skos:exactMatch OMIM:613271 corneal dystrophy, fuchs endothelial, 7 semapv:UnspecifiedMatching MONDO:0013207 corneal dystrophy, fuchs endothelial, 7 skos:exactMatch UMLS:C2750447 semapv:UnspecifiedMatching MONDO:0013207 corneal dystrophy, fuchs endothelial, 7 skos:exactMatch mesh:C567674 semapv:UnspecifiedMatching MONDO:0013208 cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome skos:exactMatch DOID:0080536 hypermanganesemia with dystonia 1 semapv:UnspecifiedMatching MONDO:0013208 cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome skos:exactMatch MEDGEN:412958 semapv:UnspecifiedMatching MONDO:0013208 cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome skos:exactMatch OMIM:613280 hypermanganesemia with dystonia 1 semapv:UnspecifiedMatching MONDO:0013208 cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome skos:exactMatch Orphanet:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome semapv:UnspecifiedMatching MONDO:0013208 cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome skos:exactMatch SCTID:702377007 semapv:UnspecifiedMatching MONDO:0013208 cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome skos:exactMatch UMLS:C2750442 semapv:UnspecifiedMatching MONDO:0013208 cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome skos:exactMatch mesh:C548016 semapv:UnspecifiedMatching MONDO:0013209 metabolic dysfunction-associated steatotic liver disease skos:exactMatch DOID:0080208 metabolic dysfunction-associated steatotic liver disease semapv:UnspecifiedMatching MONDO:0013209 metabolic dysfunction-associated steatotic liver disease skos:exactMatch EFO:0003095 semapv:UnspecifiedMatching MONDO:0013209 metabolic dysfunction-associated steatotic liver disease skos:exactMatch MEDGEN:96033 semapv:UnspecifiedMatching MONDO:0013209 metabolic dysfunction-associated steatotic liver disease skos:exactMatch NCIT:C84444 Metabolic Dysfunction-Associated Steatotic Liver Disease semapv:UnspecifiedMatching MONDO:0013209 metabolic dysfunction-associated steatotic liver disease skos:exactMatch SCTID:197315008 semapv:UnspecifiedMatching MONDO:0013209 metabolic dysfunction-associated steatotic liver disease skos:exactMatch UMLS:C0400966 semapv:UnspecifiedMatching MONDO:0013209 metabolic dysfunction-associated steatotic liver disease skos:exactMatch icd11.foundation:1912806631 Non-alcoholic fatty liver disease semapv:UnspecifiedMatching MONDO:0013209 metabolic dysfunction-associated steatotic liver disease skos:exactMatch mesh:D065626 semapv:UnspecifiedMatching MONDO:0013210 autosomal recessive nonsyndromic hearing loss 25 skos:exactMatch DOID:0110483 autosomal recessive nonsyndromic deafness 25 semapv:UnspecifiedMatching MONDO:0013210 autosomal recessive nonsyndromic hearing loss 25 skos:exactMatch MEDGEN:237587 semapv:UnspecifiedMatching MONDO:0013210 autosomal recessive nonsyndromic hearing loss 25 skos:exactMatch OMIM:613285 deafness, autosomal recessive 25 semapv:UnspecifiedMatching MONDO:0013210 autosomal recessive nonsyndromic hearing loss 25 skos:exactMatch UMLS:C1414017 semapv:UnspecifiedMatching MONDO:0013211 dilated cardiomyopathy 1FF skos:exactMatch DOID:0110459 dilated cardiomyopathy 1FF semapv:UnspecifiedMatching MONDO:0013211 dilated cardiomyopathy 1FF skos:exactMatch MEDGEN:412876 semapv:UnspecifiedMatching MONDO:0013211 dilated cardiomyopathy 1FF skos:exactMatch OMIM:613286 cardiomyopathy, dilated, 1ff semapv:UnspecifiedMatching MONDO:0013211 dilated cardiomyopathy 1FF skos:exactMatch UMLS:C2750091 semapv:UnspecifiedMatching MONDO:0013211 dilated cardiomyopathy 1FF skos:exactMatch mesh:C567654 semapv:UnspecifiedMatching MONDO:0013212 Charcot-Marie-Tooth disease axonal type 2N skos:exactMatch DOID:0110177 Charcot-Marie-Tooth disease axonal type 2N semapv:UnspecifiedMatching MONDO:0013212 Charcot-Marie-Tooth disease axonal type 2N skos:exactMatch MEDGEN:413754 semapv:UnspecifiedMatching MONDO:0013212 Charcot-Marie-Tooth disease axonal type 2N skos:exactMatch OMIM:613287 charcot-marie-tooth disease, axonal, type 2n semapv:UnspecifiedMatching MONDO:0013212 Charcot-Marie-Tooth disease axonal type 2N skos:exactMatch Orphanet:228174 Autosomal dominant Charcot-Marie-Tooth disease type 2N semapv:UnspecifiedMatching MONDO:0013212 Charcot-Marie-Tooth disease axonal type 2N skos:exactMatch SCTID:719515001 semapv:UnspecifiedMatching MONDO:0013212 Charcot-Marie-Tooth disease axonal type 2N skos:exactMatch UMLS:C2750090 semapv:UnspecifiedMatching MONDO:0013212 Charcot-Marie-Tooth disease axonal type 2N skos:exactMatch mesh:C567653 semapv:UnspecifiedMatching MONDO:0013213 hearing loss, cisplatin-induced, susceptibility to skos:exactMatch MEDGEN:413752 semapv:UnspecifiedMatching MONDO:0013213 hearing loss, cisplatin-induced, susceptibility to skos:exactMatch OMIM:613290 hearing loss, cisplatin-induced, susceptibility to semapv:UnspecifiedMatching MONDO:0013213 hearing loss, cisplatin-induced, susceptibility to skos:exactMatch UMLS:C2750088 semapv:UnspecifiedMatching MONDO:0013214 bile acid malabsorption, primary, 1 skos:exactMatch MEDGEN:1794144 semapv:UnspecifiedMatching MONDO:0013214 bile acid malabsorption, primary, 1 skos:exactMatch OMIM:613291 bile acid malabsorption, primary, 1 semapv:UnspecifiedMatching MONDO:0013214 bile acid malabsorption, primary, 1 skos:exactMatch UMLS:C5561934 semapv:UnspecifiedMatching MONDO:0013214 bile acid malabsorption, primary, 1 skos:exactMatch mesh:C567652 semapv:UnspecifiedMatching MONDO:0013215 autosomal recessive nonsyndromic hearing loss 79 skos:exactMatch DOID:0110526 autosomal recessive nonsyndromic deafness 79 semapv:UnspecifiedMatching MONDO:0013215 autosomal recessive nonsyndromic hearing loss 79 skos:exactMatch MEDGEN:413222 semapv:UnspecifiedMatching MONDO:0013215 autosomal recessive nonsyndromic hearing loss 79 skos:exactMatch OMIM:613307 deafness, autosomal recessive 79 semapv:UnspecifiedMatching MONDO:0013215 autosomal recessive nonsyndromic hearing loss 79 skos:exactMatch UMLS:C2750082 semapv:UnspecifiedMatching MONDO:0013215 autosomal recessive nonsyndromic hearing loss 79 skos:exactMatch mesh:C567651 semapv:UnspecifiedMatching MONDO:0013216 Diamond-Blackfan anemia 9 skos:exactMatch DOID:0111884 Diamond-Blackfan anemia 9 semapv:UnspecifiedMatching MONDO:0013216 Diamond-Blackfan anemia 9 skos:exactMatch MEDGEN:412874 semapv:UnspecifiedMatching MONDO:0013216 Diamond-Blackfan anemia 9 skos:exactMatch NCIT:C176918 Diamond-Blackfan Anemia 9 semapv:UnspecifiedMatching MONDO:0013216 Diamond-Blackfan anemia 9 skos:exactMatch OMIM:613308 diamond-blackfan anemia 9 semapv:UnspecifiedMatching MONDO:0013216 Diamond-Blackfan anemia 9 skos:exactMatch UMLS:C2750081 semapv:UnspecifiedMatching MONDO:0013216 Diamond-Blackfan anemia 9 skos:exactMatch mesh:C567650 semapv:UnspecifiedMatching MONDO:0013217 Diamond-Blackfan anemia 10 skos:exactMatch DOID:0111888 Diamond-Blackfan anemia 10 semapv:UnspecifiedMatching MONDO:0013217 Diamond-Blackfan anemia 10 skos:exactMatch MEDGEN:412873 semapv:UnspecifiedMatching MONDO:0013217 Diamond-Blackfan anemia 10 skos:exactMatch NCIT:C176919 Diamond-Blackfan Anemia 10 semapv:UnspecifiedMatching MONDO:0013217 Diamond-Blackfan anemia 10 skos:exactMatch OMIM:613309 diamond-blackfan anemia 10 semapv:UnspecifiedMatching MONDO:0013217 Diamond-Blackfan anemia 10 skos:exactMatch UMLS:C2750080 semapv:UnspecifiedMatching MONDO:0013217 Diamond-Blackfan anemia 10 skos:exactMatch mesh:C567649 semapv:UnspecifiedMatching MONDO:0013218 exudative vitreoretinopathy 5 skos:exactMatch DOID:0111408 exudative vitreoretinopathy 5 semapv:UnspecifiedMatching MONDO:0013218 exudative vitreoretinopathy 5 skos:exactMatch MEDGEN:412872 semapv:UnspecifiedMatching MONDO:0013218 exudative vitreoretinopathy 5 skos:exactMatch OMIM:613310 exudative vitreoretinopathy 5 semapv:UnspecifiedMatching MONDO:0013218 exudative vitreoretinopathy 5 skos:exactMatch UMLS:C2750079 semapv:UnspecifiedMatching MONDO:0013218 exudative vitreoretinopathy 5 skos:exactMatch mesh:C567648 semapv:UnspecifiedMatching MONDO:0013219 hypophosphatemic rickets, autosomal recessive, 2 skos:exactMatch MEDGEN:442380 semapv:UnspecifiedMatching MONDO:0013219 hypophosphatemic rickets, autosomal recessive, 2 skos:exactMatch OMIM:613312 hypophosphatemic rickets, autosomal recessive, 2 semapv:UnspecifiedMatching MONDO:0013219 hypophosphatemic rickets, autosomal recessive, 2 skos:exactMatch UMLS:C2750078 semapv:UnspecifiedMatching MONDO:0013219 hypophosphatemic rickets, autosomal recessive, 2 skos:exactMatch mesh:C567647 semapv:UnspecifiedMatching MONDO:0013220 hemochromatosis type 2B skos:exactMatch DOID:0111032 hemochromatosis type 2B semapv:UnspecifiedMatching MONDO:0013220 hemochromatosis type 2B skos:exactMatch MEDGEN:356040 semapv:UnspecifiedMatching MONDO:0013220 hemochromatosis type 2B skos:exactMatch OMIM:613313 hemochromatosis, type 2b semapv:UnspecifiedMatching MONDO:0013220 hemochromatosis type 2B skos:exactMatch UMLS:C1865616 semapv:UnspecifiedMatching MONDO:0013220 hemochromatosis type 2B skos:exactMatch mesh:C566557 semapv:UnspecifiedMatching MONDO:0013221 Miyoshi muscular dystrophy 2 skos:exactMatch DOID:0070200 Miyoshi muscular dystrophy 2 semapv:UnspecifiedMatching MONDO:0013221 Miyoshi muscular dystrophy 2 skos:exactMatch MEDGEN:413751 semapv:UnspecifiedMatching MONDO:0013221 Miyoshi muscular dystrophy 2 skos:exactMatch OMIM:613318 miyoshi muscular dystrophy 2 semapv:UnspecifiedMatching MONDO:0013221 Miyoshi muscular dystrophy 2 skos:exactMatch UMLS:C2750077 semapv:UnspecifiedMatching MONDO:0013221 Miyoshi muscular dystrophy 2 skos:exactMatch mesh:C567646 semapv:UnspecifiedMatching MONDO:0013222 Miyoshi muscular dystrophy 3 skos:exactMatch DOID:0070201 Miyoshi muscular dystrophy 3 semapv:UnspecifiedMatching MONDO:0013222 Miyoshi muscular dystrophy 3 skos:exactMatch MEDGEN:413750 semapv:UnspecifiedMatching MONDO:0013222 Miyoshi muscular dystrophy 3 skos:exactMatch OMIM:613319 miyoshi muscular dystrophy 3 semapv:UnspecifiedMatching MONDO:0013222 Miyoshi muscular dystrophy 3 skos:exactMatch Orphanet:399096 Distal anoctaminopathy semapv:UnspecifiedMatching MONDO:0013222 Miyoshi muscular dystrophy 3 skos:exactMatch UMLS:C2750076 semapv:UnspecifiedMatching MONDO:0013222 Miyoshi muscular dystrophy 3 skos:exactMatch mesh:C567645 semapv:UnspecifiedMatching MONDO:0013223 autosomal recessive spondylometaphyseal dysplasia, Megarbane type skos:exactMatch DOID:0112304 spondylometaphyseal dysplasia Megarbane-Dagher-Melike type semapv:UnspecifiedMatching MONDO:0013223 autosomal recessive spondylometaphyseal dysplasia, Megarbane type skos:exactMatch MEDGEN:413221 semapv:UnspecifiedMatching MONDO:0013223 autosomal recessive spondylometaphyseal dysplasia, Megarbane type skos:exactMatch OMIM:613320 spondylometaphyseal dysplasia, megarbane-dagher-melki type semapv:UnspecifiedMatching MONDO:0013223 autosomal recessive spondylometaphyseal dysplasia, Megarbane type skos:exactMatch Orphanet:401979 Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type semapv:UnspecifiedMatching MONDO:0013223 autosomal recessive spondylometaphyseal dysplasia, Megarbane type skos:exactMatch UMLS:C2750075 semapv:UnspecifiedMatching MONDO:0013223 autosomal recessive spondylometaphyseal dysplasia, Megarbane type skos:exactMatch mesh:C567644 semapv:UnspecifiedMatching MONDO:0013224 rhabdoid tumor predisposition syndrome 2 skos:exactMatch DOID:0060997 rhabdoid tumor predisposition syndrome 2 semapv:UnspecifiedMatching MONDO:0013224 rhabdoid tumor predisposition syndrome 2 skos:exactMatch MEDGEN:413749 semapv:UnspecifiedMatching MONDO:0013224 rhabdoid tumor predisposition syndrome 2 skos:exactMatch NCIT:C178394 Rhabdoid Tumor Predisposition Syndrome 2 semapv:UnspecifiedMatching MONDO:0013224 rhabdoid tumor predisposition syndrome 2 skos:exactMatch OMIM:613325 rhabdoid tumor predisposition syndrome 2 semapv:UnspecifiedMatching MONDO:0013224 rhabdoid tumor predisposition syndrome 2 skos:exactMatch UMLS:C2750074 semapv:UnspecifiedMatching MONDO:0013224 rhabdoid tumor predisposition syndrome 2 skos:exactMatch mesh:C567643 semapv:UnspecifiedMatching MONDO:0013225 congenital generalized lipodystrophy type 4 skos:exactMatch DOID:0111138 congenital generalized lipodystrophy type 4 semapv:UnspecifiedMatching MONDO:0013225 congenital generalized lipodystrophy type 4 skos:exactMatch MEDGEN:412871 semapv:UnspecifiedMatching MONDO:0013225 congenital generalized lipodystrophy type 4 skos:exactMatch OMIM:613327 lipodystrophy, congenital generalized, type 4 semapv:UnspecifiedMatching MONDO:0013225 congenital generalized lipodystrophy type 4 skos:exactMatch Orphanet:228429 Congenital generalized lipodystrophy type 4 semapv:UnspecifiedMatching MONDO:0013225 congenital generalized lipodystrophy type 4 skos:exactMatch UMLS:C2750069 semapv:UnspecifiedMatching MONDO:0013225 congenital generalized lipodystrophy type 4 skos:exactMatch mesh:C567642 semapv:UnspecifiedMatching MONDO:0013226 combined immunodeficiency with faciooculoskeletal anomalies skos:exactMatch MEDGEN:442377 semapv:UnspecifiedMatching MONDO:0013226 combined immunodeficiency with faciooculoskeletal anomalies skos:exactMatch OMIM:613328 roifman-chitayat syndrome semapv:UnspecifiedMatching MONDO:0013226 combined immunodeficiency with faciooculoskeletal anomalies skos:exactMatch Orphanet:221139 Combined immunodeficiency with facio-oculo-skeletal anomalies semapv:UnspecifiedMatching MONDO:0013226 combined immunodeficiency with faciooculoskeletal anomalies skos:exactMatch UMLS:C2750068 semapv:UnspecifiedMatching MONDO:0013226 combined immunodeficiency with faciooculoskeletal anomalies skos:exactMatch mesh:C567641 semapv:UnspecifiedMatching MONDO:0013227 congenital plasminogen activator inhibitor type 1 deficiency skos:exactMatch MEDGEN:412870 semapv:UnspecifiedMatching MONDO:0013227 congenital plasminogen activator inhibitor type 1 deficiency skos:exactMatch NCIT:C133884 Plasminogen Activator Inhibitor-1 Deficiency semapv:UnspecifiedMatching MONDO:0013227 congenital plasminogen activator inhibitor type 1 deficiency skos:exactMatch OMIM:613329 plasminogen activator inhibitor-1 deficiency semapv:UnspecifiedMatching MONDO:0013227 congenital plasminogen activator inhibitor type 1 deficiency skos:exactMatch Orphanet:465 Congenital plasminogen activator inhibitor type 1 deficiency semapv:UnspecifiedMatching MONDO:0013227 congenital plasminogen activator inhibitor type 1 deficiency skos:exactMatch SCTID:717407006 semapv:UnspecifiedMatching MONDO:0013227 congenital plasminogen activator inhibitor type 1 deficiency skos:exactMatch UMLS:C2750067 semapv:UnspecifiedMatching MONDO:0013227 congenital plasminogen activator inhibitor type 1 deficiency skos:exactMatch icd11.foundation:428643962 Congenital plasminogen activator inhibitor type 1 deficiency semapv:UnspecifiedMatching MONDO:0013227 congenital plasminogen activator inhibitor type 1 deficiency skos:exactMatch mesh:C567640 semapv:UnspecifiedMatching MONDO:0013228 spondylo-megaepiphyseal-metaphyseal dysplasia skos:exactMatch MEDGEN:412869 semapv:UnspecifiedMatching MONDO:0013228 spondylo-megaepiphyseal-metaphyseal dysplasia skos:exactMatch OMIM:613330 spondylo-megaepiphyseal-metaphyseal dysplasia semapv:UnspecifiedMatching MONDO:0013228 spondylo-megaepiphyseal-metaphyseal dysplasia skos:exactMatch Orphanet:228387 Spondylo-megaepiphyseal-metaphyseal dysplasia semapv:UnspecifiedMatching MONDO:0013228 spondylo-megaepiphyseal-metaphyseal dysplasia skos:exactMatch UMLS:C2750066 semapv:UnspecifiedMatching MONDO:0013228 spondylo-megaepiphyseal-metaphyseal dysplasia skos:exactMatch mesh:C567639 semapv:UnspecifiedMatching MONDO:0013229 hot water reflex epilepsy skos:exactMatch DOID:0081104 hot water epilepsy semapv:UnspecifiedMatching MONDO:0013229 hot water reflex epilepsy skos:exactMatch MEDGEN:1631373 semapv:UnspecifiedMatching MONDO:0013229 hot water reflex epilepsy skos:exactMatch OMIMPS:613339 Hot water epilepsy semapv:UnspecifiedMatching MONDO:0013229 hot water reflex epilepsy skos:exactMatch Orphanet:166412 Hot water reflex epilepsy semapv:UnspecifiedMatching MONDO:0013229 hot water reflex epilepsy skos:exactMatch SCTID:230454005 semapv:UnspecifiedMatching MONDO:0013229 hot water reflex epilepsy skos:exactMatch UMLS:C4706506 semapv:UnspecifiedMatching MONDO:0013230 epilepsy, hot water, 2 skos:exactMatch DOID:0081107 hot water epilepsy 2 semapv:UnspecifiedMatching MONDO:0013230 epilepsy, hot water, 2 skos:exactMatch MEDGEN:461886 semapv:UnspecifiedMatching MONDO:0013230 epilepsy, hot water, 2 skos:exactMatch OMIM:613340 epilepsy, hot water, 2 semapv:UnspecifiedMatching MONDO:0013230 epilepsy, hot water, 2 skos:exactMatch UMLS:C3150536 semapv:UnspecifiedMatching MONDO:0013231 Leber congenital amaurosis 14 skos:exactMatch DOID:0110188 Leber congenital amaurosis 14 semapv:UnspecifiedMatching MONDO:0013231 Leber congenital amaurosis 14 skos:exactMatch MEDGEN:442375 semapv:UnspecifiedMatching MONDO:0013231 Leber congenital amaurosis 14 skos:exactMatch OMIM:613341 leber congenital amaurosis 14 semapv:UnspecifiedMatching MONDO:0013231 Leber congenital amaurosis 14 skos:exactMatch UMLS:C2750063 semapv:UnspecifiedMatching MONDO:0013231 Leber congenital amaurosis 14 skos:exactMatch mesh:C567636 semapv:UnspecifiedMatching MONDO:0013232 brachydactylous dwarfism, Mseleni type skos:exactMatch MEDGEN:419408 semapv:UnspecifiedMatching MONDO:0013232 brachydactylous dwarfism, Mseleni type skos:exactMatch OMIM:613342 mseleni joint disease semapv:UnspecifiedMatching MONDO:0013232 brachydactylous dwarfism, Mseleni type skos:exactMatch Orphanet:2619 Brachydactylous dwarfism, Mseleni type semapv:UnspecifiedMatching MONDO:0013232 brachydactylous dwarfism, Mseleni type skos:exactMatch SCTID:715470008 semapv:UnspecifiedMatching MONDO:0013232 brachydactylous dwarfism, Mseleni type skos:exactMatch UMLS:C2931420 semapv:UnspecifiedMatching MONDO:0013232 brachydactylous dwarfism, Mseleni type skos:exactMatch icd11.foundation:419953164 Brachydactylous dwarfism, Mseleni type semapv:UnspecifiedMatching MONDO:0013232 brachydactylous dwarfism, Mseleni type skos:exactMatch mesh:C537086 semapv:UnspecifiedMatching MONDO:0013233 spondyloepimetaphyseal dysplasia, Handigodu type skos:exactMatch MEDGEN:461895 semapv:UnspecifiedMatching MONDO:0013233 spondyloepimetaphyseal dysplasia, Handigodu type skos:exactMatch OMIM:613343 handigodu joint disease semapv:UnspecifiedMatching MONDO:0013233 spondyloepimetaphyseal dysplasia, Handigodu type skos:exactMatch Orphanet:99642 Spondyloepimetaphyseal dysplasia, Handigodu type semapv:UnspecifiedMatching MONDO:0013233 spondyloepimetaphyseal dysplasia, Handigodu type skos:exactMatch UMLS:C3150545 semapv:UnspecifiedMatching MONDO:0013233 spondyloepimetaphyseal dysplasia, Handigodu type skos:exactMatch icd11.foundation:2048058677 Spondyloepimetaphyseal dysplasia, Handigodu type semapv:UnspecifiedMatching MONDO:0013234 hypokalemic periodic paralysis, type 2 skos:exactMatch MEDGEN:413748 semapv:UnspecifiedMatching MONDO:0013234 hypokalemic periodic paralysis, type 2 skos:exactMatch OMIM:613345 hypokalemic periodic paralysis, type 2 semapv:UnspecifiedMatching MONDO:0013234 hypokalemic periodic paralysis, type 2 skos:exactMatch UMLS:C2750061 semapv:UnspecifiedMatching MONDO:0013234 hypokalemic periodic paralysis, type 2 skos:exactMatch mesh:C567635 semapv:UnspecifiedMatching MONDO:0013235 pancreatic cancer, susceptibility to, 2 skos:exactMatch MEDGEN:461896 semapv:UnspecifiedMatching MONDO:0013235 pancreatic cancer, susceptibility to, 2 skos:exactMatch OMIM:613347 pancreatic cancer, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0013235 pancreatic cancer, susceptibility to, 2 skos:exactMatch UMLS:C3150546 semapv:UnspecifiedMatching MONDO:0013236 pancreatic cancer, susceptibility to, 3 skos:exactMatch MEDGEN:461897 semapv:UnspecifiedMatching MONDO:0013236 pancreatic cancer, susceptibility to, 3 skos:exactMatch OMIM:613348 pancreatic cancer, susceptibility to, 3 semapv:UnspecifiedMatching MONDO:0013236 pancreatic cancer, susceptibility to, 3 skos:exactMatch UMLS:C3150547 semapv:UnspecifiedMatching MONDO:0013237 susceptibility to mononeuropathy of the median nerve, mild skos:exactMatch MEDGEN:461946 semapv:UnspecifiedMatching MONDO:0013237 susceptibility to mononeuropathy of the median nerve, mild skos:exactMatch OMIM:613353 mononeuropathy of the median nerve, mild semapv:UnspecifiedMatching MONDO:0013237 susceptibility to mononeuropathy of the median nerve, mild skos:exactMatch UMLS:C3150596 semapv:UnspecifiedMatching MONDO:0013238 chromosome 17q23.1-q23.2 deletion syndrome skos:exactMatch DOID:0060405 chromosome 17q23.1-q23.2 deletion syndrome semapv:UnspecifiedMatching MONDO:0013238 chromosome 17q23.1-q23.2 deletion syndrome skos:exactMatch MEDGEN:461957 semapv:UnspecifiedMatching MONDO:0013238 chromosome 17q23.1-q23.2 deletion syndrome skos:exactMatch OMIM:613355 chromosome 17q23.1-q23.2 deletion syndrome semapv:UnspecifiedMatching MONDO:0013238 chromosome 17q23.1-q23.2 deletion syndrome skos:exactMatch Orphanet:261279 17q23.1q23.2 microdeletion syndrome semapv:UnspecifiedMatching MONDO:0013238 chromosome 17q23.1-q23.2 deletion syndrome skos:exactMatch SCTID:719584008 semapv:UnspecifiedMatching MONDO:0013238 chromosome 17q23.1-q23.2 deletion syndrome skos:exactMatch UMLS:C3150607 semapv:UnspecifiedMatching MONDO:0013239 hereditary spastic paraplegia 41 skos:exactMatch DOID:0110793 hereditary spastic paraplegia 41 semapv:UnspecifiedMatching MONDO:0013239 hereditary spastic paraplegia 41 skos:exactMatch MEDGEN:854815 semapv:UnspecifiedMatching MONDO:0013239 hereditary spastic paraplegia 41 skos:exactMatch OMIM:613364 spastic paraplegia 41, autosomal dominant semapv:UnspecifiedMatching MONDO:0013239 hereditary spastic paraplegia 41 skos:exactMatch Orphanet:320355 Autosomal dominant spastic paraplegia type 41 semapv:UnspecifiedMatching MONDO:0013239 hereditary spastic paraplegia 41 skos:exactMatch SCTID:763069002 semapv:UnspecifiedMatching MONDO:0013239 hereditary spastic paraplegia 41 skos:exactMatch UMLS:C3888208 semapv:UnspecifiedMatching MONDO:0013240 maturity-onset diabetes of the young type 10 skos:exactMatch DOID:0111108 maturity-onset diabetes of the young type 10 semapv:UnspecifiedMatching MONDO:0013240 maturity-onset diabetes of the young type 10 skos:exactMatch MEDGEN:461967 semapv:UnspecifiedMatching MONDO:0013240 maturity-onset diabetes of the young type 10 skos:exactMatch OMIM:613370 maturity-onset diabetes of the young, type 10 semapv:UnspecifiedMatching MONDO:0013240 maturity-onset diabetes of the young type 10 skos:exactMatch SCTID:609577006 semapv:UnspecifiedMatching MONDO:0013240 maturity-onset diabetes of the young type 10 skos:exactMatch UMLS:C3150617 semapv:UnspecifiedMatching MONDO:0013241 spinocerebellar ataxia type 30 skos:exactMatch DOID:0050979 spinocerebellar ataxia 30 semapv:UnspecifiedMatching MONDO:0013241 spinocerebellar ataxia type 30 skos:exactMatch MEDGEN:424821 semapv:UnspecifiedMatching MONDO:0013241 spinocerebellar ataxia type 30 skos:exactMatch OMIM:613371 spinocerebellar ataxia 30 semapv:UnspecifiedMatching MONDO:0013241 spinocerebellar ataxia type 30 skos:exactMatch Orphanet:211017 Spinocerebellar ataxia type 30 semapv:UnspecifiedMatching MONDO:0013241 spinocerebellar ataxia type 30 skos:exactMatch SCTID:719253007 semapv:UnspecifiedMatching MONDO:0013241 spinocerebellar ataxia type 30 skos:exactMatch UMLS:C2936793 semapv:UnspecifiedMatching MONDO:0013241 spinocerebellar ataxia type 30 skos:exactMatch icd11.foundation:716324960 Spinocerebellar ataxia type 30 semapv:UnspecifiedMatching MONDO:0013241 spinocerebellar ataxia type 30 skos:exactMatch mesh:C575214 semapv:UnspecifiedMatching MONDO:0013242 maturity-onset diabetes of the young type 11 skos:exactMatch DOID:0111109 maturity-onset diabetes of the young type 11 semapv:UnspecifiedMatching MONDO:0013242 maturity-onset diabetes of the young type 11 skos:exactMatch MEDGEN:461968 semapv:UnspecifiedMatching MONDO:0013242 maturity-onset diabetes of the young type 11 skos:exactMatch OMIM:613375 maturity-onset diabetes of the young, type 11 semapv:UnspecifiedMatching MONDO:0013242 maturity-onset diabetes of the young type 11 skos:exactMatch SCTID:609578001 semapv:UnspecifiedMatching MONDO:0013242 maturity-onset diabetes of the young type 11 skos:exactMatch UMLS:C3150618 semapv:UnspecifiedMatching MONDO:0013243 neuronopathy, distal hereditary motor, type 2C skos:exactMatch DOID:0111209 autosomal dominant distal hereditary motor neuronopathy 4 semapv:UnspecifiedMatching MONDO:0013243 neuronopathy, distal hereditary motor, type 2C skos:exactMatch MEDGEN:461969 semapv:UnspecifiedMatching MONDO:0013243 neuronopathy, distal hereditary motor, type 2C skos:exactMatch OMIM:613376 neuronopathy, distal hereditary motor, autosomal dominant 4 semapv:UnspecifiedMatching MONDO:0013243 neuronopathy, distal hereditary motor, type 2C skos:exactMatch UMLS:C3150619 semapv:UnspecifiedMatching MONDO:0013244 brachydactyly type E2 skos:exactMatch DOID:0110976 brachydactyly type E2 semapv:UnspecifiedMatching MONDO:0013244 brachydactyly type E2 skos:exactMatch MEDGEN:461994 semapv:UnspecifiedMatching MONDO:0013244 brachydactyly type E2 skos:exactMatch OMIM:613382 brachydactyly, type e2 semapv:UnspecifiedMatching MONDO:0013244 brachydactyly type E2 skos:exactMatch UMLS:C3150644 semapv:UnspecifiedMatching MONDO:0013245 syndromic multisystem autoimmune disease due to ITCH deficiency skos:exactMatch MEDGEN:461999 semapv:UnspecifiedMatching MONDO:0013245 syndromic multisystem autoimmune disease due to ITCH deficiency skos:exactMatch OMIM:613385 autoimmune disease, multisystem, with facial dysmorphism semapv:UnspecifiedMatching MONDO:0013245 syndromic multisystem autoimmune disease due to ITCH deficiency skos:exactMatch Orphanet:228426 Syndromic multisystem autoimmune disease due to Itch deficiency semapv:UnspecifiedMatching MONDO:0013245 syndromic multisystem autoimmune disease due to ITCH deficiency skos:exactMatch UMLS:C3150649 semapv:UnspecifiedMatching MONDO:0013245 syndromic multisystem autoimmune disease due to ITCH deficiency skos:exactMatch icd11.foundation:1970749000 Syndromic multisystem autoimmune disease due to ITCH deficiency semapv:UnspecifiedMatching MONDO:0013246 fatty liver disease, nonalcoholic, susceptibility to, 2 skos:exactMatch MEDGEN:462001 semapv:UnspecifiedMatching MONDO:0013246 fatty liver disease, nonalcoholic, susceptibility to, 2 skos:exactMatch OMIM:613387 fatty liver disease, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0013246 fatty liver disease, nonalcoholic, susceptibility to, 2 skos:exactMatch UMLS:C3150651 semapv:UnspecifiedMatching MONDO:0013247 Fanconi renotubular syndrome 2 skos:exactMatch DOID:0080758 Fanconi renotubular syndrome 2 semapv:UnspecifiedMatching MONDO:0013247 Fanconi renotubular syndrome 2 skos:exactMatch MEDGEN:462002 semapv:UnspecifiedMatching MONDO:0013247 Fanconi renotubular syndrome 2 skos:exactMatch OMIM:613388 fanconi renotubular syndrome 2 semapv:UnspecifiedMatching MONDO:0013247 Fanconi renotubular syndrome 2 skos:exactMatch UMLS:C3150652 semapv:UnspecifiedMatching MONDO:0013248 Fanconi anemia complementation group O skos:exactMatch DOID:0111096 Fanconi anemia complementation group O semapv:UnspecifiedMatching MONDO:0013248 Fanconi anemia complementation group O skos:exactMatch MEDGEN:462003 semapv:UnspecifiedMatching MONDO:0013248 Fanconi anemia complementation group O skos:exactMatch OMIM:613390 fanconi anemia, complementation group o semapv:UnspecifiedMatching MONDO:0013248 Fanconi anemia complementation group O skos:exactMatch UMLS:C3150653 semapv:UnspecifiedMatching MONDO:0013249 autosomal recessive nonsyndromic hearing loss 84A skos:exactMatch DOID:0110529 autosomal recessive nonsyndromic deafness 84A semapv:UnspecifiedMatching MONDO:0013249 autosomal recessive nonsyndromic hearing loss 84A skos:exactMatch MEDGEN:462004 semapv:UnspecifiedMatching MONDO:0013249 autosomal recessive nonsyndromic hearing loss 84A skos:exactMatch OMIM:613391 deafness, autosomal recessive 84a semapv:UnspecifiedMatching MONDO:0013249 autosomal recessive nonsyndromic hearing loss 84A skos:exactMatch UMLS:C3150654 semapv:UnspecifiedMatching MONDO:0013250 autosomal recessive nonsyndromic hearing loss 85 skos:exactMatch DOID:0110531 autosomal recessive nonsyndromic deafness 85 semapv:UnspecifiedMatching MONDO:0013250 autosomal recessive nonsyndromic hearing loss 85 skos:exactMatch MEDGEN:463629 semapv:UnspecifiedMatching MONDO:0013250 autosomal recessive nonsyndromic hearing loss 85 skos:exactMatch OMIM:613392 deafness, autosomal recessive 85 semapv:UnspecifiedMatching MONDO:0013250 autosomal recessive nonsyndromic hearing loss 85 skos:exactMatch UMLS:C3160740 semapv:UnspecifiedMatching MONDO:0013251 Birbeck granule deficiency skos:exactMatch MEDGEN:462007 semapv:UnspecifiedMatching MONDO:0013251 Birbeck granule deficiency skos:exactMatch OMIM:613393 birbeck granule deficiency semapv:UnspecifiedMatching MONDO:0013251 Birbeck granule deficiency skos:exactMatch UMLS:C3150657 semapv:UnspecifiedMatching MONDO:0013252 Warsaw breakage syndrome skos:exactMatch DOID:0060535 Warsaw breakage syndrome semapv:UnspecifiedMatching MONDO:0013252 Warsaw breakage syndrome skos:exactMatch MEDGEN:462008 semapv:UnspecifiedMatching MONDO:0013252 Warsaw breakage syndrome skos:exactMatch NCIT:C164675 Warsaw Breakage Syndrome semapv:UnspecifiedMatching MONDO:0013252 Warsaw breakage syndrome skos:exactMatch OMIM:613398 warsaw breakage syndrome semapv:UnspecifiedMatching MONDO:0013252 Warsaw breakage syndrome skos:exactMatch Orphanet:280558 Warsaw breakage syndrome semapv:UnspecifiedMatching MONDO:0013252 Warsaw breakage syndrome skos:exactMatch SCTID:702829000 semapv:UnspecifiedMatching MONDO:0013252 Warsaw breakage syndrome skos:exactMatch UMLS:C3150658 semapv:UnspecifiedMatching MONDO:0013252 Warsaw breakage syndrome skos:exactMatch icd11.foundation:833375162 Warsaw breakage syndrome semapv:UnspecifiedMatching MONDO:0013253 breast-ovarian cancer, familial, susceptibility to, 3 skos:exactMatch MEDGEN:462009 semapv:UnspecifiedMatching MONDO:0013253 breast-ovarian cancer, familial, susceptibility to, 3 skos:exactMatch OMIM:613399 breast-ovarian cancer, familial, susceptibility to, 3 semapv:UnspecifiedMatching MONDO:0013253 breast-ovarian cancer, familial, susceptibility to, 3 skos:exactMatch UMLS:C3150659 semapv:UnspecifiedMatching MONDO:0013254 microcephaly, seizures, and developmental delay skos:exactMatch DOID:0080457 microcephaly, seizures, and developmental delay semapv:UnspecifiedMatching MONDO:0013254 microcephaly, seizures, and developmental delay skos:exactMatch MEDGEN:462017 semapv:UnspecifiedMatching MONDO:0013254 microcephaly, seizures, and developmental delay skos:exactMatch OMIM:613402 microcephaly, seizures, and developmental delay semapv:UnspecifiedMatching MONDO:0013254 microcephaly, seizures, and developmental delay skos:exactMatch UMLS:C3150667 semapv:UnspecifiedMatching MONDO:0013255 arthrogryposis, renal dysfunction, and cholestasis 2 skos:exactMatch DOID:0111354 arthrogryposis, renal dysfunction, and cholestasis 2 semapv:UnspecifiedMatching MONDO:0013255 arthrogryposis, renal dysfunction, and cholestasis 2 skos:exactMatch MEDGEN:462022 semapv:UnspecifiedMatching MONDO:0013255 arthrogryposis, renal dysfunction, and cholestasis 2 skos:exactMatch OMIM:613404 arthrogryposis, renal dysfunction, and cholestasis 2 semapv:UnspecifiedMatching MONDO:0013255 arthrogryposis, renal dysfunction, and cholestasis 2 skos:exactMatch UMLS:C3150672 semapv:UnspecifiedMatching MONDO:0013256 chromosome 15q24 deletion syndrome skos:exactMatch DOID:0060395 chromosome 15q24 deletion syndrome semapv:UnspecifiedMatching MONDO:0013256 chromosome 15q24 deletion syndrome skos:exactMatch MEDGEN:462024 semapv:UnspecifiedMatching MONDO:0013256 chromosome 15q24 deletion syndrome skos:exactMatch OMIM:613406 witteveen-kolk syndrome semapv:UnspecifiedMatching MONDO:0013256 chromosome 15q24 deletion syndrome skos:exactMatch Orphanet:94065 15q24 microdeletion syndrome semapv:UnspecifiedMatching MONDO:0013256 chromosome 15q24 deletion syndrome skos:exactMatch SCTID:699308002 semapv:UnspecifiedMatching MONDO:0013256 chromosome 15q24 deletion syndrome skos:exactMatch UMLS:C3150674 semapv:UnspecifiedMatching MONDO:0013256 chromosome 15q24 deletion syndrome skos:exactMatch mesh:C579849 semapv:UnspecifiedMatching MONDO:0013257 leprosy, susceptibility to, 6 skos:exactMatch MEDGEN:462026 semapv:UnspecifiedMatching MONDO:0013257 leprosy, susceptibility to, 6 skos:exactMatch OMIM:613407 leprosy, susceptibility to, 6 semapv:UnspecifiedMatching MONDO:0013257 leprosy, susceptibility to, 6 skos:exactMatch UMLS:C3150676 semapv:UnspecifiedMatching MONDO:0013258 autism, susceptibility to, 16 skos:exactMatch MEDGEN:462027 semapv:UnspecifiedMatching MONDO:0013258 autism, susceptibility to, 16 skos:exactMatch OMIM:613410 autism, susceptibility to, 16 semapv:UnspecifiedMatching MONDO:0013258 autism, susceptibility to, 16 skos:exactMatch UMLS:C3150677 semapv:UnspecifiedMatching MONDO:0013259 Oguchi disease-2 skos:exactMatch DOID:0110713 Oguchi disease-2 semapv:UnspecifiedMatching MONDO:0013259 Oguchi disease-2 skos:exactMatch MEDGEN:462028 semapv:UnspecifiedMatching MONDO:0013259 Oguchi disease-2 skos:exactMatch OMIM:613411 oguchi disease 2 semapv:UnspecifiedMatching MONDO:0013259 Oguchi disease-2 skos:exactMatch UMLS:C3150678 semapv:UnspecifiedMatching MONDO:0013260 esophagitis, eosinophilic, 2 skos:exactMatch MEDGEN:462029 semapv:UnspecifiedMatching MONDO:0013260 esophagitis, eosinophilic, 2 skos:exactMatch OMIM:613412 esophagitis, eosinophilic, 2 semapv:UnspecifiedMatching MONDO:0013260 esophagitis, eosinophilic, 2 skos:exactMatch UMLS:C3150679 semapv:UnspecifiedMatching MONDO:0013261 dilated cardiomyopathy 1R skos:exactMatch DOID:0110456 dilated cardiomyopathy 1R semapv:UnspecifiedMatching MONDO:0013261 dilated cardiomyopathy 1R skos:exactMatch MEDGEN:462031 semapv:UnspecifiedMatching MONDO:0013261 dilated cardiomyopathy 1R skos:exactMatch OMIM:613424 cardiomyopathy, dilated, 1r semapv:UnspecifiedMatching MONDO:0013261 dilated cardiomyopathy 1R skos:exactMatch UMLS:C3150681 semapv:UnspecifiedMatching MONDO:0013262 dilated cardiomyopathy 1S skos:exactMatch DOID:0110454 dilated cardiomyopathy 1S semapv:UnspecifiedMatching MONDO:0013262 dilated cardiomyopathy 1S skos:exactMatch MEDGEN:371831 semapv:UnspecifiedMatching MONDO:0013262 dilated cardiomyopathy 1S skos:exactMatch OMIM:613426 cardiomyopathy, dilated, 1s semapv:UnspecifiedMatching MONDO:0013262 dilated cardiomyopathy 1S skos:exactMatch UMLS:C1834481 semapv:UnspecifiedMatching MONDO:0013262 dilated cardiomyopathy 1S skos:exactMatch mesh:C563538 semapv:UnspecifiedMatching MONDO:0013263 retinitis pigmentosa 54 skos:exactMatch DOID:0110364 retinitis pigmentosa 54 semapv:UnspecifiedMatching MONDO:0013263 retinitis pigmentosa 54 skos:exactMatch MEDGEN:462041 semapv:UnspecifiedMatching MONDO:0013263 retinitis pigmentosa 54 skos:exactMatch OMIM:613428 retinitis pigmentosa 54 semapv:UnspecifiedMatching MONDO:0013263 retinitis pigmentosa 54 skos:exactMatch UMLS:C3150691 semapv:UnspecifiedMatching MONDO:0013264 amyotrophic lateral sclerosis type 12 skos:exactMatch DOID:0060203 amyotrophic lateral sclerosis type 12 semapv:UnspecifiedMatching MONDO:0013264 amyotrophic lateral sclerosis type 12 skos:exactMatch MEDGEN:462042 semapv:UnspecifiedMatching MONDO:0013264 amyotrophic lateral sclerosis type 12 skos:exactMatch OMIM:613435 amyotrophic lateral sclerosis 12 with or without frontotemporal dementia semapv:UnspecifiedMatching MONDO:0013264 amyotrophic lateral sclerosis type 12 skos:exactMatch UMLS:C3150692 semapv:UnspecifiedMatching MONDO:0013265 autism, susceptibility to, 17 skos:exactMatch MEDGEN:462043 semapv:UnspecifiedMatching MONDO:0013265 autism, susceptibility to, 17 skos:exactMatch OMIM:613436 autism, susceptibility to, 17 semapv:UnspecifiedMatching MONDO:0013265 autism, susceptibility to, 17 skos:exactMatch UMLS:C3150693 semapv:UnspecifiedMatching MONDO:0013266 neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language skos:exactMatch DOID:0070050 neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language semapv:UnspecifiedMatching MONDO:0013266 neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language skos:exactMatch MEDGEN:462050 semapv:UnspecifiedMatching MONDO:0013266 neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language skos:exactMatch OMIM:613443 neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language semapv:UnspecifiedMatching MONDO:0013266 neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language skos:exactMatch Orphanet:664410 Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0013266 neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language skos:exactMatch UMLS:C3150700 semapv:UnspecifiedMatching MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:exactMatch DOID:0060398 chromosome 16p11.2 deletion syndrome, 220-kb semapv:UnspecifiedMatching MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:exactMatch MEDGEN:462051 semapv:UnspecifiedMatching MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:exactMatch OMIM:613444 chromosome 16p11.2 deletion syndrome, 220-kb semapv:UnspecifiedMatching MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:exactMatch Orphanet:261222 Distal 16p11.2 microdeletion syndrome semapv:UnspecifiedMatching MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:exactMatch SCTID:733521003 semapv:UnspecifiedMatching MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:exactMatch UMLS:C3150701 semapv:UnspecifiedMatching MONDO:0013268 frontonasal dysplasia with alopecia and genital anomaly skos:exactMatch DOID:0081046 frontonasal dysplasia 2 semapv:UnspecifiedMatching MONDO:0013268 frontonasal dysplasia with alopecia and genital anomaly skos:exactMatch MEDGEN:462053 semapv:UnspecifiedMatching MONDO:0013268 frontonasal dysplasia with alopecia and genital anomaly skos:exactMatch OMIM:613451 frontonasal dysplasia 2 semapv:UnspecifiedMatching MONDO:0013268 frontonasal dysplasia with alopecia and genital anomaly skos:exactMatch Orphanet:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome semapv:UnspecifiedMatching MONDO:0013268 frontonasal dysplasia with alopecia and genital anomaly skos:exactMatch SCTID:725029001 semapv:UnspecifiedMatching MONDO:0013268 frontonasal dysplasia with alopecia and genital anomaly skos:exactMatch UMLS:C3150703 semapv:UnspecifiedMatching MONDO:0013269 autosomal recessive nonsyndromic hearing loss 91 skos:exactMatch DOID:0110536 autosomal recessive nonsyndromic deafness 91 semapv:UnspecifiedMatching MONDO:0013269 autosomal recessive nonsyndromic hearing loss 91 skos:exactMatch MEDGEN:462054 semapv:UnspecifiedMatching MONDO:0013269 autosomal recessive nonsyndromic hearing loss 91 skos:exactMatch OMIM:613453 deafness, autosomal recessive 91 semapv:UnspecifiedMatching MONDO:0013269 autosomal recessive nonsyndromic hearing loss 91 skos:exactMatch UMLS:C3150704 semapv:UnspecifiedMatching MONDO:0013271 frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome skos:exactMatch DOID:0081047 frontonasal dysplasia 3 semapv:UnspecifiedMatching MONDO:0013271 frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome skos:exactMatch MEDGEN:462056 semapv:UnspecifiedMatching MONDO:0013271 frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome skos:exactMatch OMIM:613456 frontonasal dysplasia 3 semapv:UnspecifiedMatching MONDO:0013271 frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome skos:exactMatch Orphanet:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome semapv:UnspecifiedMatching MONDO:0013271 frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome skos:exactMatch UMLS:C3150706 semapv:UnspecifiedMatching MONDO:0013272 chromosome 14q11-q22 deletion syndrome skos:exactMatch DOID:0060392 chromosome 14q11-q22 deletion syndrome semapv:UnspecifiedMatching MONDO:0013272 chromosome 14q11-q22 deletion syndrome skos:exactMatch MEDGEN:462057 semapv:UnspecifiedMatching MONDO:0013272 chromosome 14q11-q22 deletion syndrome skos:exactMatch OMIM:613457 chromosome 14q11-q22 deletion syndrome semapv:UnspecifiedMatching MONDO:0013272 chromosome 14q11-q22 deletion syndrome skos:exactMatch Orphanet:261120 14q11.2 microdeletion syndrome semapv:UnspecifiedMatching MONDO:0013272 chromosome 14q11-q22 deletion syndrome skos:exactMatch SCTID:719047001 semapv:UnspecifiedMatching MONDO:0013272 chromosome 14q11-q22 deletion syndrome skos:exactMatch UMLS:C3150707 semapv:UnspecifiedMatching MONDO:0013273 chromosome 16p13.3 duplication syndrome skos:exactMatch DOID:0060431 chromosome 16p13.3 duplication syndrome semapv:UnspecifiedMatching MONDO:0013273 chromosome 16p13.3 duplication syndrome skos:exactMatch MEDGEN:462058 semapv:UnspecifiedMatching MONDO:0013273 chromosome 16p13.3 duplication syndrome skos:exactMatch OMIM:613458 chromosome 16p13.3 duplication syndrome semapv:UnspecifiedMatching MONDO:0013273 chromosome 16p13.3 duplication syndrome skos:exactMatch Orphanet:96078 16p13.3 microduplication syndrome semapv:UnspecifiedMatching MONDO:0013273 chromosome 16p13.3 duplication syndrome skos:exactMatch SCTID:733473000 semapv:UnspecifiedMatching MONDO:0013273 chromosome 16p13.3 duplication syndrome skos:exactMatch UMLS:C3150708 semapv:UnspecifiedMatching MONDO:0013274 retinitis pigmentosa 51 skos:exactMatch DOID:0110398 retinitis pigmentosa 51 semapv:UnspecifiedMatching MONDO:0013274 retinitis pigmentosa 51 skos:exactMatch MEDGEN:462065 semapv:UnspecifiedMatching MONDO:0013274 retinitis pigmentosa 51 skos:exactMatch OMIM:613464 retinitis pigmentosa 51 semapv:UnspecifiedMatching MONDO:0013274 retinitis pigmentosa 51 skos:exactMatch UMLS:C3150715 semapv:UnspecifiedMatching MONDO:0013275 hemolytic anemia due to glucophosphate isomerase deficiency skos:exactMatch DOID:0051005 congenital nonspherocytic hemolytic anemia 4 semapv:UnspecifiedMatching MONDO:0013275 hemolytic anemia due to glucophosphate isomerase deficiency skos:exactMatch MEDGEN:543776 semapv:UnspecifiedMatching MONDO:0013275 hemolytic anemia due to glucophosphate isomerase deficiency skos:exactMatch OMIM:613470 anemia, congenital, nonspherocytic hemolytic, 4 semapv:UnspecifiedMatching MONDO:0013275 hemolytic anemia due to glucophosphate isomerase deficiency skos:exactMatch Orphanet:712 Hemolytic anemia due to glucophosphate isomerase deficiency semapv:UnspecifiedMatching MONDO:0013275 hemolytic anemia due to glucophosphate isomerase deficiency skos:exactMatch UMLS:C0272064 semapv:UnspecifiedMatching MONDO:0013276 Reynolds syndrome skos:exactMatch MEDGEN:450547 semapv:UnspecifiedMatching MONDO:0013276 Reynolds syndrome skos:exactMatch OMIM:613471 reynolds syndrome semapv:UnspecifiedMatching MONDO:0013276 Reynolds syndrome skos:exactMatch Orphanet:779 Reynolds syndrome semapv:UnspecifiedMatching MONDO:0013276 Reynolds syndrome skos:exactMatch SCTID:715401008 semapv:UnspecifiedMatching MONDO:0013276 Reynolds syndrome skos:exactMatch UMLS:C0748397 semapv:UnspecifiedMatching MONDO:0013276 Reynolds syndrome skos:exactMatch icd11.foundation:1409844299 Reynolds syndrome semapv:UnspecifiedMatching MONDO:0013277 developmental and epileptic encephalopathy, 5 skos:exactMatch DOID:0080438 developmental and epileptic encephalopathy 5 semapv:UnspecifiedMatching MONDO:0013277 developmental and epileptic encephalopathy, 5 skos:exactMatch MEDGEN:462081 semapv:UnspecifiedMatching MONDO:0013277 developmental and epileptic encephalopathy, 5 skos:exactMatch OMIM:613477 developmental and epileptic encephalopathy 5 semapv:UnspecifiedMatching MONDO:0013277 developmental and epileptic encephalopathy, 5 skos:exactMatch UMLS:C3150731 semapv:UnspecifiedMatching MONDO:0013278 lymphatic malformation 3 skos:exactMatch DOID:0070208 hereditary lymphedema IC semapv:UnspecifiedMatching MONDO:0013278 lymphatic malformation 3 skos:exactMatch MEDGEN:1652857 semapv:UnspecifiedMatching MONDO:0013278 lymphatic malformation 3 skos:exactMatch OMIM:613480 lymphatic malformation 3 semapv:UnspecifiedMatching MONDO:0013278 lymphatic malformation 3 skos:exactMatch UMLS:C4747646 semapv:UnspecifiedMatching MONDO:0013279 long QT syndrome 13 skos:exactMatch DOID:0110654 long QT syndrome 13 semapv:UnspecifiedMatching MONDO:0013279 long QT syndrome 13 skos:exactMatch MEDGEN:462083 semapv:UnspecifiedMatching MONDO:0013279 long QT syndrome 13 skos:exactMatch OMIM:613485 long qt syndrome 13 semapv:UnspecifiedMatching MONDO:0013279 long QT syndrome 13 skos:exactMatch UMLS:C3150733 semapv:UnspecifiedMatching MONDO:0013280 myxoid liposarcoma skos:exactMatch DOID:5363 myxoid liposarcoma semapv:UnspecifiedMatching MONDO:0013280 myxoid liposarcoma skos:exactMatch EFO:0000613 semapv:UnspecifiedMatching MONDO:0013280 myxoid liposarcoma skos:exactMatch MEDGEN:104903 semapv:UnspecifiedMatching MONDO:0013280 myxoid liposarcoma skos:exactMatch NCIT:C27781 Myxoid Liposarcoma semapv:UnspecifiedMatching MONDO:0013280 myxoid liposarcoma skos:exactMatch OMIM:613488 myxoid liposarcoma semapv:UnspecifiedMatching MONDO:0013280 myxoid liposarcoma skos:exactMatch SCTID:404069006 semapv:UnspecifiedMatching MONDO:0013280 myxoid liposarcoma skos:exactMatch UMLS:C0206634 semapv:UnspecifiedMatching MONDO:0013280 myxoid liposarcoma skos:exactMatch mesh:D018208 semapv:UnspecifiedMatching MONDO:0013281 COG4-congenital disorder of glycosylation skos:exactMatch DOID:0070262 congenital disorder of glycosylation type IIj semapv:UnspecifiedMatching MONDO:0013281 COG4-congenital disorder of glycosylation skos:exactMatch MEDGEN:929221 semapv:UnspecifiedMatching MONDO:0013281 COG4-congenital disorder of glycosylation skos:exactMatch OMIM:613489 congenital disorder of glycosylation, type iij semapv:UnspecifiedMatching MONDO:0013281 COG4-congenital disorder of glycosylation skos:exactMatch Orphanet:263501 COG4-CDG semapv:UnspecifiedMatching MONDO:0013281 COG4-congenital disorder of glycosylation skos:exactMatch SCTID:718751000 semapv:UnspecifiedMatching MONDO:0013281 COG4-congenital disorder of glycosylation skos:exactMatch UMLS:C4303552 semapv:UnspecifiedMatching MONDO:0013282 alpha 1-antitrypsin deficiency skos:exactMatch DOID:13372 alpha 1-antitrypsin deficiency semapv:UnspecifiedMatching MONDO:0013282 alpha 1-antitrypsin deficiency skos:exactMatch ICD10CM:E88.01 Alpha-1-antitrypsin deficiency semapv:UnspecifiedMatching MONDO:0013282 alpha 1-antitrypsin deficiency skos:exactMatch MEDGEN:67461 semapv:UnspecifiedMatching MONDO:0013282 alpha 1-antitrypsin deficiency skos:exactMatch NCIT:C84397 Alpha-1 Antitrypsin Deficiency semapv:UnspecifiedMatching MONDO:0013282 alpha 1-antitrypsin deficiency skos:exactMatch OMIM:613490 alpha-1-antitrypsin deficiency semapv:UnspecifiedMatching MONDO:0013282 alpha 1-antitrypsin deficiency skos:exactMatch Orphanet:60 Alpha-1-antitrypsin deficiency semapv:UnspecifiedMatching MONDO:0013282 alpha 1-antitrypsin deficiency skos:exactMatch SCTID:30188007 semapv:UnspecifiedMatching MONDO:0013282 alpha 1-antitrypsin deficiency skos:exactMatch UMLS:C0221757 semapv:UnspecifiedMatching MONDO:0013282 alpha 1-antitrypsin deficiency skos:exactMatch icd11.foundation:824872160 Alpha-1-antitrypsin deficiency semapv:UnspecifiedMatching MONDO:0013282 alpha 1-antitrypsin deficiency skos:exactMatch mesh:D019896 semapv:UnspecifiedMatching MONDO:0013283 immunodeficiency, common variable, 3 skos:exactMatch DOID:0081146 common variable immunodeficiency 3 semapv:UnspecifiedMatching MONDO:0013283 immunodeficiency, common variable, 3 skos:exactMatch MEDGEN:462088 semapv:UnspecifiedMatching MONDO:0013283 immunodeficiency, common variable, 3 skos:exactMatch OMIM:613493 immunodeficiency, common variable, 3 semapv:UnspecifiedMatching MONDO:0013283 immunodeficiency, common variable, 3 skos:exactMatch UMLS:C3150738 semapv:UnspecifiedMatching MONDO:0013284 immunodeficiency, common variable, 4 skos:exactMatch DOID:0081147 common variable immunodeficiency 4 semapv:UnspecifiedMatching MONDO:0013284 immunodeficiency, common variable, 4 skos:exactMatch MEDGEN:462089 semapv:UnspecifiedMatching MONDO:0013284 immunodeficiency, common variable, 4 skos:exactMatch OMIM:613494 immunodeficiency, common variable, 4 semapv:UnspecifiedMatching MONDO:0013284 immunodeficiency, common variable, 4 skos:exactMatch Orphanet:696925 Adult-onset common variable immunodeficiency due to BAFF-receptor deficiency semapv:UnspecifiedMatching MONDO:0013284 immunodeficiency, common variable, 4 skos:exactMatch UMLS:C3150739 semapv:UnspecifiedMatching MONDO:0013285 immunodeficiency, common variable, 5 skos:exactMatch DOID:0081148 common variable immunodeficiency 5 semapv:UnspecifiedMatching MONDO:0013285 immunodeficiency, common variable, 5 skos:exactMatch MEDGEN:462090 semapv:UnspecifiedMatching MONDO:0013285 immunodeficiency, common variable, 5 skos:exactMatch OMIM:613495 immunodeficiency, common variable, 5 semapv:UnspecifiedMatching MONDO:0013285 immunodeficiency, common variable, 5 skos:exactMatch UMLS:C3150740 semapv:UnspecifiedMatching MONDO:0013286 immunodeficiency, common variable, 6 skos:exactMatch DOID:0081149 common variable immunodeficiency 6 semapv:UnspecifiedMatching MONDO:0013286 immunodeficiency, common variable, 6 skos:exactMatch MEDGEN:462091 semapv:UnspecifiedMatching MONDO:0013286 immunodeficiency, common variable, 6 skos:exactMatch OMIM:613496 immunodeficiency, common variable, 6 semapv:UnspecifiedMatching MONDO:0013286 immunodeficiency, common variable, 6 skos:exactMatch UMLS:C3150741 semapv:UnspecifiedMatching MONDO:0013287 agammaglobulinemia 2, autosomal recessive skos:exactMatch DOID:0060024 lambda 5 deficiency semapv:UnspecifiedMatching MONDO:0013287 agammaglobulinemia 2, autosomal recessive skos:exactMatch DOID:0081135 agammaglobulinemia 2 semapv:UnspecifiedMatching MONDO:0013287 agammaglobulinemia 2, autosomal recessive skos:exactMatch MEDGEN:462100 semapv:UnspecifiedMatching MONDO:0013287 agammaglobulinemia 2, autosomal recessive skos:exactMatch OMIM:613500 agammaglobulinemia 2, autosomal recessive semapv:UnspecifiedMatching MONDO:0013287 agammaglobulinemia 2, autosomal recessive skos:exactMatch UMLS:C3150750 semapv:UnspecifiedMatching MONDO:0013288 agammaglobulinemia 3, autosomal recessive skos:exactMatch DOID:0081137 agammaglobulinemia 3 semapv:UnspecifiedMatching MONDO:0013288 agammaglobulinemia 3, autosomal recessive skos:exactMatch MEDGEN:462101 semapv:UnspecifiedMatching MONDO:0013288 agammaglobulinemia 3, autosomal recessive skos:exactMatch OMIM:613501 agammaglobulinemia 3, autosomal recessive semapv:UnspecifiedMatching MONDO:0013288 agammaglobulinemia 3, autosomal recessive skos:exactMatch UMLS:C3150751 semapv:UnspecifiedMatching MONDO:0013289 agammaglobulinemia 4, autosomal recessive skos:exactMatch DOID:0060027 agammaglobulinemia 4 semapv:UnspecifiedMatching MONDO:0013289 agammaglobulinemia 4, autosomal recessive skos:exactMatch MEDGEN:462102 semapv:UnspecifiedMatching MONDO:0013289 agammaglobulinemia 4, autosomal recessive skos:exactMatch OMIM:613502 agammaglobulinemia 4, autosomal recessive semapv:UnspecifiedMatching MONDO:0013289 agammaglobulinemia 4, autosomal recessive skos:exactMatch UMLS:C3150752 semapv:UnspecifiedMatching MONDO:0013290 agammaglobulinemia 5, autosomal dominant skos:exactMatch DOID:0080588 agammaglobulinemia 5 semapv:UnspecifiedMatching MONDO:0013290 agammaglobulinemia 5, autosomal dominant skos:exactMatch MEDGEN:462103 semapv:UnspecifiedMatching MONDO:0013290 agammaglobulinemia 5, autosomal dominant skos:exactMatch OMIM:613506 agammaglobulinemia 5, autosomal dominant semapv:UnspecifiedMatching MONDO:0013290 agammaglobulinemia 5, autosomal dominant skos:exactMatch UMLS:C3150753 semapv:UnspecifiedMatching MONDO:0013291 glycogen storage disease XV skos:exactMatch DOID:0050579 glycogen storage disease XV semapv:UnspecifiedMatching MONDO:0013291 glycogen storage disease XV skos:exactMatch MEDGEN:462104 semapv:UnspecifiedMatching MONDO:0013291 glycogen storage disease XV skos:exactMatch OMIM:613507 glycogen storage disease 15 semapv:UnspecifiedMatching MONDO:0013291 glycogen storage disease XV skos:exactMatch Orphanet:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency semapv:UnspecifiedMatching MONDO:0013291 glycogen storage disease XV skos:exactMatch SCTID:717821004 semapv:UnspecifiedMatching MONDO:0013291 glycogen storage disease XV skos:exactMatch UMLS:C3150754 semapv:UnspecifiedMatching MONDO:0013292 chromosome 4q21 deletion syndrome skos:exactMatch DOID:0060420 chromosome 4q21 deletion syndrome semapv:UnspecifiedMatching MONDO:0013292 chromosome 4q21 deletion syndrome skos:exactMatch MEDGEN:462106 semapv:UnspecifiedMatching MONDO:0013292 chromosome 4q21 deletion syndrome skos:exactMatch OMIM:613509 chromosome 4q21 deletion syndrome semapv:UnspecifiedMatching MONDO:0013292 chromosome 4q21 deletion syndrome skos:exactMatch Orphanet:238750 4q21 microdeletion syndrome semapv:UnspecifiedMatching MONDO:0013292 chromosome 4q21 deletion syndrome skos:exactMatch SCTID:719660008 semapv:UnspecifiedMatching MONDO:0013292 chromosome 4q21 deletion syndrome skos:exactMatch UMLS:C3150756 semapv:UnspecifiedMatching MONDO:0013293 isolated microphthalmia 6 skos:exactMatch DOID:0060835 isolated microphthalmia 6 semapv:UnspecifiedMatching MONDO:0013293 isolated microphthalmia 6 skos:exactMatch MEDGEN:462107 semapv:UnspecifiedMatching MONDO:0013293 isolated microphthalmia 6 skos:exactMatch OMIM:613517 microphthalmia, isolated 6 semapv:UnspecifiedMatching MONDO:0013293 isolated microphthalmia 6 skos:exactMatch UMLS:C3150757 semapv:UnspecifiedMatching MONDO:0013294 dermatitis, atopic, 8 skos:exactMatch DOID:0110104 atopic dermatitis 8 semapv:UnspecifiedMatching MONDO:0013294 dermatitis, atopic, 8 skos:exactMatch MEDGEN:462113 semapv:UnspecifiedMatching MONDO:0013294 dermatitis, atopic, 8 skos:exactMatch OMIM:613518 dermatitis, atopic, 8 semapv:UnspecifiedMatching MONDO:0013294 dermatitis, atopic, 8 skos:exactMatch UMLS:C3150763 semapv:UnspecifiedMatching MONDO:0013295 dermatitis, atopic, 9 skos:exactMatch DOID:0110105 atopic dermatitis 9 semapv:UnspecifiedMatching MONDO:0013295 dermatitis, atopic, 9 skos:exactMatch MEDGEN:462114 semapv:UnspecifiedMatching MONDO:0013295 dermatitis, atopic, 9 skos:exactMatch OMIM:613519 dermatitis, atopic, 9 semapv:UnspecifiedMatching MONDO:0013295 dermatitis, atopic, 9 skos:exactMatch UMLS:C3150764 semapv:UnspecifiedMatching MONDO:0013296 myeloid neoplasm associated with FGFR1 rearrangement skos:exactMatch DOID:0080167 myeloid and lymphoid neoplasms associated with FGFR1 abnormalities semapv:UnspecifiedMatching MONDO:0013296 myeloid neoplasm associated with FGFR1 rearrangement skos:exactMatch MEDGEN:462123 semapv:UnspecifiedMatching MONDO:0013296 myeloid neoplasm associated with FGFR1 rearrangement skos:exactMatch NCIT:C84277 Myeloid/Lymphoid Neoplasms with FGFR1 Rearrangement semapv:UnspecifiedMatching MONDO:0013296 myeloid neoplasm associated with FGFR1 rearrangement skos:exactMatch OMIM:613523 chromosome 8p11 myeloproliferative syndrome semapv:UnspecifiedMatching MONDO:0013296 myeloid neoplasm associated with FGFR1 rearrangement skos:exactMatch Orphanet:168953 Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement semapv:UnspecifiedMatching MONDO:0013296 myeloid neoplasm associated with FGFR1 rearrangement skos:exactMatch UMLS:C3150773 semapv:UnspecifiedMatching MONDO:0013296 myeloid neoplasm associated with FGFR1 rearrangement skos:exactMatch icd11.foundation:2019647878 Myeloid or lymphoid neoplasms with FGFR1 abnormalities semapv:UnspecifiedMatching MONDO:0013297 autosomal dominant limb-girdle muscular dystrophy type 1H skos:exactMatch DOID:0110303 autosomal dominant limb-girdle muscular dystrophy type 1H semapv:UnspecifiedMatching MONDO:0013297 autosomal dominant limb-girdle muscular dystrophy type 1H skos:exactMatch MEDGEN:462136 semapv:UnspecifiedMatching MONDO:0013297 autosomal dominant limb-girdle muscular dystrophy type 1H skos:exactMatch OMIM:613530 muscular dystrophy, limb-girdle, type 1h semapv:UnspecifiedMatching MONDO:0013297 autosomal dominant limb-girdle muscular dystrophy type 1H skos:exactMatch UMLS:C3150786 semapv:UnspecifiedMatching MONDO:0013298 chromosome 17q21.31 duplication syndrome skos:exactMatch DOID:0060434 chromosome 17q21.31 duplication syndrome semapv:UnspecifiedMatching MONDO:0013298 chromosome 17q21.31 duplication syndrome skos:exactMatch MEDGEN:901723 semapv:UnspecifiedMatching MONDO:0013298 chromosome 17q21.31 duplication syndrome skos:exactMatch OMIM:613533 chromosome 17q21.31 duplication syndrome semapv:UnspecifiedMatching MONDO:0013298 chromosome 17q21.31 duplication syndrome skos:exactMatch Orphanet:217340 17q21.31 microduplication syndrome semapv:UnspecifiedMatching MONDO:0013298 chromosome 17q21.31 duplication syndrome skos:exactMatch SCTID:716683005 semapv:UnspecifiedMatching MONDO:0013298 chromosome 17q21.31 duplication syndrome skos:exactMatch UMLS:C4274345 semapv:UnspecifiedMatching MONDO:0013299 chromosome 6q11-q14 deletion syndrome skos:exactMatch DOID:0060423 chromosome 6q11-q14 deletion syndrome semapv:UnspecifiedMatching MONDO:0013299 chromosome 6q11-q14 deletion syndrome skos:exactMatch MEDGEN:462140 semapv:UnspecifiedMatching MONDO:0013299 chromosome 6q11-q14 deletion syndrome skos:exactMatch OMIM:613544 chromosome 6q11-q14 deletion syndrome semapv:UnspecifiedMatching MONDO:0013299 chromosome 6q11-q14 deletion syndrome skos:exactMatch UMLS:C3150790 semapv:UnspecifiedMatching MONDO:0013300 commissural facial cleft skos:exactMatch ICD10CM:Q18.4 Macrostomia semapv:UnspecifiedMatching MONDO:0013300 commissural facial cleft skos:exactMatch MEDGEN:462142 semapv:UnspecifiedMatching MONDO:0013300 commissural facial cleft skos:exactMatch OMIM:613545 macrostomia, isolated semapv:UnspecifiedMatching MONDO:0013300 commissural facial cleft skos:exactMatch Orphanet:141276 Tessier number 7 facial cleft semapv:UnspecifiedMatching MONDO:0013300 commissural facial cleft skos:exactMatch SCTID:40159009 semapv:UnspecifiedMatching MONDO:0013300 commissural facial cleft skos:exactMatch UMLS:C3150792 semapv:UnspecifiedMatching MONDO:0013300 commissural facial cleft skos:exactMatch icd11.foundation:1460924303 Commissural facial cleft semapv:UnspecifiedMatching MONDO:0013300 commissural facial cleft skos:exactMatch mesh:D008265 semapv:UnspecifiedMatching MONDO:0013301 aromatase deficiency skos:exactMatch MEDGEN:743307 semapv:UnspecifiedMatching MONDO:0013301 aromatase deficiency skos:exactMatch NCIT:C120144 P450-Aromatase Deficiency semapv:UnspecifiedMatching MONDO:0013301 aromatase deficiency skos:exactMatch OMIM:613546 aromatase deficiency semapv:UnspecifiedMatching MONDO:0013301 aromatase deficiency skos:exactMatch Orphanet:91 Aromatase deficiency semapv:UnspecifiedMatching MONDO:0013301 aromatase deficiency skos:exactMatch UMLS:C1960539 semapv:UnspecifiedMatching MONDO:0013301 aromatase deficiency skos:exactMatch icd11.foundation:260189446 Aromatase deficiency semapv:UnspecifiedMatching MONDO:0013301 aromatase deficiency skos:exactMatch mesh:C537436 semapv:UnspecifiedMatching MONDO:0013302 nephronophthisis 11 skos:exactMatch DOID:0111118 nephronophthisis 11 semapv:UnspecifiedMatching MONDO:0013302 nephronophthisis 11 skos:exactMatch MEDGEN:462146 semapv:UnspecifiedMatching MONDO:0013302 nephronophthisis 11 skos:exactMatch OMIM:613550 nephronophthisis 11 semapv:UnspecifiedMatching MONDO:0013302 nephronophthisis 11 skos:exactMatch UMLS:C3150796 semapv:UnspecifiedMatching MONDO:0013303 autoimmune disease, susceptibility to, 6 skos:exactMatch MEDGEN:462147 semapv:UnspecifiedMatching MONDO:0013303 autoimmune disease, susceptibility to, 6 skos:exactMatch OMIM:613551 autoimmune disease, susceptibility to, 6 semapv:UnspecifiedMatching MONDO:0013303 autoimmune disease, susceptibility to, 6 skos:exactMatch UMLS:C3150797 semapv:UnspecifiedMatching MONDO:0013304 von Willebrand disease 2 skos:exactMatch DOID:0060574 von Willebrand's disease 2 semapv:UnspecifiedMatching MONDO:0013304 von Willebrand disease 2 skos:exactMatch MEDGEN:224736 semapv:UnspecifiedMatching MONDO:0013304 von Willebrand disease 2 skos:exactMatch OMIM:613554 von willebrand disease, type 2 semapv:UnspecifiedMatching MONDO:0013304 von Willebrand disease 2 skos:exactMatch Orphanet:166081 Von Willebrand disease type 2 semapv:UnspecifiedMatching MONDO:0013304 von Willebrand disease 2 skos:exactMatch SCTID:128107007 semapv:UnspecifiedMatching MONDO:0013304 von Willebrand disease 2 skos:exactMatch UMLS:C1264040 semapv:UnspecifiedMatching MONDO:0013304 von Willebrand disease 2 skos:exactMatch mesh:D056728 semapv:UnspecifiedMatching MONDO:0013305 autosomal dominant nonsyndromic hearing loss 51 skos:exactMatch DOID:0110577 autosomal dominant nonsyndromic deafness 51 semapv:UnspecifiedMatching MONDO:0013305 autosomal dominant nonsyndromic hearing loss 51 skos:exactMatch MEDGEN:463625 semapv:UnspecifiedMatching MONDO:0013305 autosomal dominant nonsyndromic hearing loss 51 skos:exactMatch OMIM:613558 deafness, autosomal dominant 51 semapv:UnspecifiedMatching MONDO:0013305 autosomal dominant nonsyndromic hearing loss 51 skos:exactMatch UMLS:C3160736 semapv:UnspecifiedMatching MONDO:0013306 combined oxidative phosphorylation defect type 7 skos:exactMatch DOID:0111487 combined oxidative phosphorylation deficiency 7 semapv:UnspecifiedMatching MONDO:0013306 combined oxidative phosphorylation defect type 7 skos:exactMatch MEDGEN:462151 semapv:UnspecifiedMatching MONDO:0013306 combined oxidative phosphorylation defect type 7 skos:exactMatch OMIM:613559 combined oxidative phosphorylation deficiency 7 semapv:UnspecifiedMatching MONDO:0013306 combined oxidative phosphorylation defect type 7 skos:exactMatch Orphanet:254930 Combined oxidative phosphorylation defect type 7 semapv:UnspecifiedMatching MONDO:0013306 combined oxidative phosphorylation defect type 7 skos:exactMatch SCTID:763204003 semapv:UnspecifiedMatching MONDO:0013306 combined oxidative phosphorylation defect type 7 skos:exactMatch UMLS:C3150801 semapv:UnspecifiedMatching MONDO:0013307 myopathy, lactic acidosis, and sideroblastic anemia 2 skos:exactMatch DOID:0111186 myopathy, lactic acidosis, and sideroblastic anemia 2 semapv:UnspecifiedMatching MONDO:0013307 myopathy, lactic acidosis, and sideroblastic anemia 2 skos:exactMatch MEDGEN:462152 semapv:UnspecifiedMatching MONDO:0013307 myopathy, lactic acidosis, and sideroblastic anemia 2 skos:exactMatch OMIM:613561 myopathy, lactic acidosis, and sideroblastic anemia 2 semapv:UnspecifiedMatching MONDO:0013307 myopathy, lactic acidosis, and sideroblastic anemia 2 skos:exactMatch UMLS:C3150802 semapv:UnspecifiedMatching MONDO:0013308 CBL-related disorder skos:exactMatch MEDGEN:462153 semapv:UnspecifiedMatching MONDO:0013308 CBL-related disorder skos:exactMatch OMIM:613563 noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia semapv:UnspecifiedMatching MONDO:0013308 CBL-related disorder skos:exactMatch Orphanet:363972 Noonan syndrome-like disorder with juvenile myelomonocytic leukemia semapv:UnspecifiedMatching MONDO:0013308 CBL-related disorder skos:exactMatch UMLS:C3150803 semapv:UnspecifiedMatching MONDO:0013309 chromosome 2p12-p11.2 deletion syndrome skos:exactMatch DOID:0060414 chromosome 2p12-p11.2 deletion syndrome semapv:UnspecifiedMatching MONDO:0013309 chromosome 2p12-p11.2 deletion syndrome skos:exactMatch MEDGEN:462154 semapv:UnspecifiedMatching MONDO:0013309 chromosome 2p12-p11.2 deletion syndrome skos:exactMatch OMIM:613564 chromosome 2p12-p11.2 deletion syndrome semapv:UnspecifiedMatching MONDO:0013309 chromosome 2p12-p11.2 deletion syndrome skos:exactMatch UMLS:C3150804 semapv:UnspecifiedMatching MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency skos:exactMatch DOID:0080925 cytochrome P450 oxidoreductase deficiency semapv:UnspecifiedMatching MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency skos:exactMatch MEDGEN:348008 semapv:UnspecifiedMatching MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency skos:exactMatch NCIT:C174439 Congenital Adrenal Hyperplasia due to Cytochrome P450 Oxidoreductase Deficiency semapv:UnspecifiedMatching MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency skos:exactMatch OMIM:613571 disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency semapv:UnspecifiedMatching MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency skos:exactMatch Orphanet:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency semapv:UnspecifiedMatching MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency skos:exactMatch SCTID:715733000 semapv:UnspecifiedMatching MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency skos:exactMatch UMLS:C1860042 semapv:UnspecifiedMatching MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency skos:exactMatch icd11.foundation:497412536 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency semapv:UnspecifiedMatching MONDO:0013311 ectodermal dysplasia-syndactyly syndrome skos:exactMatch MEDGEN:1648397 semapv:UnspecifiedMatching MONDO:0013311 ectodermal dysplasia-syndactyly syndrome skos:exactMatch OMIMPS:613573 Ectodermal dysplasia-syndactyly syndrome semapv:UnspecifiedMatching MONDO:0013311 ectodermal dysplasia-syndactyly syndrome skos:exactMatch Orphanet:247820 Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome semapv:UnspecifiedMatching MONDO:0013311 ectodermal dysplasia-syndactyly syndrome skos:exactMatch UMLS:C4749852 semapv:UnspecifiedMatching MONDO:0013312 retinitis pigmentosa 55 skos:exactMatch DOID:0110370 retinitis pigmentosa 55 semapv:UnspecifiedMatching MONDO:0013312 retinitis pigmentosa 55 skos:exactMatch MEDGEN:462158 semapv:UnspecifiedMatching MONDO:0013312 retinitis pigmentosa 55 skos:exactMatch OMIM:613575 retinitis pigmentosa 55 semapv:UnspecifiedMatching MONDO:0013312 retinitis pigmentosa 55 skos:exactMatch UMLS:C3150808 semapv:UnspecifiedMatching MONDO:0013313 ectodermal dysplasia-cutaneous syndactyly syndrome skos:exactMatch MEDGEN:462159 semapv:UnspecifiedMatching MONDO:0013313 ectodermal dysplasia-cutaneous syndactyly syndrome skos:exactMatch OMIM:613576 ectodermal dysplasia-syndactyly syndrome 2 semapv:UnspecifiedMatching MONDO:0013313 ectodermal dysplasia-cutaneous syndactyly syndrome skos:exactMatch Orphanet:247827 Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome semapv:UnspecifiedMatching MONDO:0013313 ectodermal dysplasia-cutaneous syndactyly syndrome skos:exactMatch UMLS:C3150809 semapv:UnspecifiedMatching MONDO:0013314 retinitis pigmentosa 56 skos:exactMatch DOID:0110371 retinitis pigmentosa 56 semapv:UnspecifiedMatching MONDO:0013314 retinitis pigmentosa 56 skos:exactMatch MEDGEN:462169 semapv:UnspecifiedMatching MONDO:0013314 retinitis pigmentosa 56 skos:exactMatch OMIM:613581 retinitis pigmentosa 56 semapv:UnspecifiedMatching MONDO:0013314 retinitis pigmentosa 56 skos:exactMatch UMLS:C3150819 semapv:UnspecifiedMatching MONDO:0013315 retinitis pigmentosa 57 skos:exactMatch DOID:0110407 retinitis pigmentosa 57 semapv:UnspecifiedMatching MONDO:0013315 retinitis pigmentosa 57 skos:exactMatch MEDGEN:462171 semapv:UnspecifiedMatching MONDO:0013315 retinitis pigmentosa 57 skos:exactMatch OMIM:613582 retinitis pigmentosa 57 semapv:UnspecifiedMatching MONDO:0013315 retinitis pigmentosa 57 skos:exactMatch UMLS:C3150821 semapv:UnspecifiedMatching MONDO:0013316 occult macular dystrophy skos:exactMatch DOID:0050578 occult macular dystrophy semapv:UnspecifiedMatching MONDO:0013316 occult macular dystrophy skos:exactMatch MEDGEN:462183 semapv:UnspecifiedMatching MONDO:0013316 occult macular dystrophy skos:exactMatch OMIM:613587 occult macular dystrophy semapv:UnspecifiedMatching MONDO:0013316 occult macular dystrophy skos:exactMatch Orphanet:247834 Occult macular dystrophy semapv:UnspecifiedMatching MONDO:0013316 occult macular dystrophy skos:exactMatch UMLS:C3150833 semapv:UnspecifiedMatching MONDO:0013316 occult macular dystrophy skos:exactMatch icd11.foundation:863463706 Occult macular dystrophy semapv:UnspecifiedMatching MONDO:0013317 torsade-de-pointes syndrome with short coupling interval skos:exactMatch MEDGEN:462201 semapv:UnspecifiedMatching MONDO:0013317 torsade-de-pointes syndrome with short coupling interval skos:exactMatch OMIM:613600 torsade lange pointes, short-coupled variant semapv:UnspecifiedMatching MONDO:0013317 torsade-de-pointes syndrome with short coupling interval skos:exactMatch Orphanet:51084 Torsade-de-pointes syndrome with short coupling interval semapv:UnspecifiedMatching MONDO:0013317 torsade-de-pointes syndrome with short coupling interval skos:exactMatch SCTID:718104007 semapv:UnspecifiedMatching MONDO:0013317 torsade-de-pointes syndrome with short coupling interval skos:exactMatch UMLS:C3150851 semapv:UnspecifiedMatching MONDO:0013318 early repolarization associated with ventricular fibrillation skos:exactMatch MEDGEN:462202 semapv:UnspecifiedMatching MONDO:0013318 early repolarization associated with ventricular fibrillation skos:exactMatch OMIM:613601 early repolarization associated with ventricular fibrillation semapv:UnspecifiedMatching MONDO:0013318 early repolarization associated with ventricular fibrillation skos:exactMatch UMLS:C3150852 semapv:UnspecifiedMatching MONDO:0013319 chromosome 4Q32.1-q32.2 triplication syndrome skos:exactMatch MEDGEN:462207 semapv:UnspecifiedMatching MONDO:0013319 chromosome 4Q32.1-q32.2 triplication syndrome skos:exactMatch OMIM:613603 chromosome 4q32.1-q32.2 triplication syndrome semapv:UnspecifiedMatching MONDO:0013319 chromosome 4Q32.1-q32.2 triplication syndrome skos:exactMatch UMLS:C3150857 semapv:UnspecifiedMatching MONDO:0013320 chromosome 16p12.2-p11.2 deletion syndrome skos:exactMatch DOID:0060400 chromosome 16p12.2-p11.2 deletion syndrome semapv:UnspecifiedMatching MONDO:0013320 chromosome 16p12.2-p11.2 deletion syndrome skos:exactMatch MEDGEN:462208 semapv:UnspecifiedMatching MONDO:0013320 chromosome 16p12.2-p11.2 deletion syndrome skos:exactMatch OMIM:613604 chromosome 16p12.2-p11.2 deletion syndrome, 7.1- to 8.7-mb semapv:UnspecifiedMatching MONDO:0013320 chromosome 16p12.2-p11.2 deletion syndrome skos:exactMatch Orphanet:261211 16p11.2p12.2 microdeletion syndrome semapv:UnspecifiedMatching MONDO:0013320 chromosome 16p12.2-p11.2 deletion syndrome skos:exactMatch SCTID:719576009 semapv:UnspecifiedMatching MONDO:0013320 chromosome 16p12.2-p11.2 deletion syndrome skos:exactMatch UMLS:C3150858 semapv:UnspecifiedMatching MONDO:0013321 forsythe-wakeling syndrome skos:exactMatch MEDGEN:462209 semapv:UnspecifiedMatching MONDO:0013321 forsythe-wakeling syndrome skos:exactMatch OMIM:613606 forsythe-wakeling syndrome semapv:UnspecifiedMatching MONDO:0013321 forsythe-wakeling syndrome skos:exactMatch UMLS:C3150859 semapv:UnspecifiedMatching MONDO:0013322 epilepsy, familial adult myoclonic, 3 skos:exactMatch DOID:0111695 familial adult myoclonic epilepsy 3 semapv:UnspecifiedMatching MONDO:0013322 epilepsy, familial adult myoclonic, 3 skos:exactMatch MEDGEN:462210 semapv:UnspecifiedMatching MONDO:0013322 epilepsy, familial adult myoclonic, 3 skos:exactMatch OMIM:613608 epilepsy, familial adult myoclonic, 3 semapv:UnspecifiedMatching MONDO:0013322 epilepsy, familial adult myoclonic, 3 skos:exactMatch UMLS:C3150860 semapv:UnspecifiedMatching MONDO:0013322 epilepsy, familial adult myoclonic, 3 skos:exactMatch mesh:C567098 semapv:UnspecifiedMatching MONDO:0013323 cranioectodermal dysplasia 2 skos:exactMatch DOID:0080804 cranioectodermal dysplasia 2 semapv:UnspecifiedMatching MONDO:0013323 cranioectodermal dysplasia 2 skos:exactMatch MEDGEN:462224 semapv:UnspecifiedMatching MONDO:0013323 cranioectodermal dysplasia 2 skos:exactMatch OMIM:613610 cranioectodermal dysplasia 2 semapv:UnspecifiedMatching MONDO:0013323 cranioectodermal dysplasia 2 skos:exactMatch UMLS:C3150874 semapv:UnspecifiedMatching MONDO:0013324 lymphedema-posterior choanal atresia syndrome skos:exactMatch MEDGEN:462225 semapv:UnspecifiedMatching MONDO:0013324 lymphedema-posterior choanal atresia syndrome skos:exactMatch OMIM:613611 choanal atresia and lymphedema semapv:UnspecifiedMatching MONDO:0013324 lymphedema-posterior choanal atresia syndrome skos:exactMatch Orphanet:99141 Lymphedema-posterior choanal atresia syndrome semapv:UnspecifiedMatching MONDO:0013324 lymphedema-posterior choanal atresia syndrome skos:exactMatch UMLS:C3150875 semapv:UnspecifiedMatching MONDO:0013325 COG5-congenital disorder of glycosylation skos:exactMatch DOID:0070261 congenital disorder of glycosylation type IIi semapv:UnspecifiedMatching MONDO:0013325 COG5-congenital disorder of glycosylation skos:exactMatch MEDGEN:462226 semapv:UnspecifiedMatching MONDO:0013325 COG5-congenital disorder of glycosylation skos:exactMatch OMIM:613612 congenital disorder of glycosylation, type iii semapv:UnspecifiedMatching MONDO:0013325 COG5-congenital disorder of glycosylation skos:exactMatch Orphanet:263487 COG5-CDG semapv:UnspecifiedMatching MONDO:0013325 COG5-congenital disorder of glycosylation skos:exactMatch SCTID:721100009 semapv:UnspecifiedMatching MONDO:0013325 COG5-congenital disorder of glycosylation skos:exactMatch UMLS:C3150876 semapv:UnspecifiedMatching MONDO:0013326 Senior-Loken syndrome 7 skos:exactMatch MEDGEN:462227 semapv:UnspecifiedMatching MONDO:0013326 Senior-Loken syndrome 7 skos:exactMatch OMIM:613615 senior-loken syndrome 7 semapv:UnspecifiedMatching MONDO:0013326 Senior-Loken syndrome 7 skos:exactMatch UMLS:C3150877 semapv:UnspecifiedMatching MONDO:0013327 primary hyperoxaluria type 3 skos:exactMatch DOID:0111672 primary hyperoxaluria type 3 semapv:UnspecifiedMatching MONDO:0013327 primary hyperoxaluria type 3 skos:exactMatch MEDGEN:462228 semapv:UnspecifiedMatching MONDO:0013327 primary hyperoxaluria type 3 skos:exactMatch NCIT:C123214 Primary Hyperoxaluria Type III semapv:UnspecifiedMatching MONDO:0013327 primary hyperoxaluria type 3 skos:exactMatch OMIM:613616 hyperoxaluria, primary, type 3 semapv:UnspecifiedMatching MONDO:0013327 primary hyperoxaluria type 3 skos:exactMatch Orphanet:93600 Primary hyperoxaluria type 3 semapv:UnspecifiedMatching MONDO:0013327 primary hyperoxaluria type 3 skos:exactMatch SCTID:734990008 semapv:UnspecifiedMatching MONDO:0013327 primary hyperoxaluria type 3 skos:exactMatch UMLS:C3150878 semapv:UnspecifiedMatching MONDO:0013328 retinitis pigmentosa 58 skos:exactMatch DOID:0110362 retinitis pigmentosa 58 semapv:UnspecifiedMatching MONDO:0013328 retinitis pigmentosa 58 skos:exactMatch MEDGEN:462229 semapv:UnspecifiedMatching MONDO:0013328 retinitis pigmentosa 58 skos:exactMatch OMIM:613617 retinitis pigmentosa 58 semapv:UnspecifiedMatching MONDO:0013328 retinitis pigmentosa 58 skos:exactMatch UMLS:C3150879 semapv:UnspecifiedMatching MONDO:0013329 familial clubfoot due to 17q23.1q23.2 microduplication skos:exactMatch MEDGEN:462230 semapv:UnspecifiedMatching MONDO:0013329 familial clubfoot due to 17q23.1q23.2 microduplication skos:exactMatch OMIM:613618 chromosome 17q23.1-q23.2 duplication syndrome semapv:UnspecifiedMatching MONDO:0013329 familial clubfoot due to 17q23.1q23.2 microduplication skos:exactMatch Orphanet:238578 Familial clubfoot due to 17q23.1q23.2 microduplication semapv:UnspecifiedMatching MONDO:0013329 familial clubfoot due to 17q23.1q23.2 microduplication skos:exactMatch UMLS:C3150880 semapv:UnspecifiedMatching MONDO:0013330 agenesis of the corpus callosum and congenital lymphedema skos:exactMatch MEDGEN:462237 semapv:UnspecifiedMatching MONDO:0013330 agenesis of the corpus callosum and congenital lymphedema skos:exactMatch OMIM:613623 agenesis of the corpus callosum and congenital lymphedema semapv:UnspecifiedMatching MONDO:0013330 agenesis of the corpus callosum and congenital lymphedema skos:exactMatch UMLS:C3150887 semapv:UnspecifiedMatching MONDO:0013331 factor 5 and Factor VIII, combined deficiency of, 2 skos:exactMatch MEDGEN:462239 semapv:UnspecifiedMatching MONDO:0013331 factor 5 and Factor VIII, combined deficiency of, 2 skos:exactMatch OMIM:613625 factor 5 and factor viii, combined deficiency of, 2 semapv:UnspecifiedMatching MONDO:0013331 factor 5 and Factor VIII, combined deficiency of, 2 skos:exactMatch UMLS:C3150889 semapv:UnspecifiedMatching MONDO:0013332 brachydactyly, type A1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and intellectual disability skos:exactMatch MEDGEN:462240 semapv:UnspecifiedMatching MONDO:0013332 brachydactyly, type A1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and intellectual disability skos:exactMatch OMIM:613627 tsukahara syndrome semapv:UnspecifiedMatching MONDO:0013332 brachydactyly, type A1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and intellectual disability skos:exactMatch SCTID:719162001 semapv:UnspecifiedMatching MONDO:0013332 brachydactyly, type A1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and intellectual disability skos:exactMatch UMLS:C3150890 semapv:UnspecifiedMatching MONDO:0013333 odontoid hypoplasia skos:exactMatch MEDGEN:339524 semapv:UnspecifiedMatching MONDO:0013333 odontoid hypoplasia skos:exactMatch NCIT:C86969 Odontoid Hypoplasia semapv:UnspecifiedMatching MONDO:0013333 odontoid hypoplasia skos:exactMatch OMIM:613628 odontoid hypoplasia semapv:UnspecifiedMatching MONDO:0013333 odontoid hypoplasia skos:exactMatch UMLS:C1846439 semapv:UnspecifiedMatching MONDO:0013334 cocoon syndrome skos:exactMatch DOID:0060647 fetal encasement syndrome semapv:UnspecifiedMatching MONDO:0013334 cocoon syndrome skos:exactMatch MEDGEN:462241 semapv:UnspecifiedMatching MONDO:0013334 cocoon syndrome skos:exactMatch OMIM:613630 fetal encasement syndrome semapv:UnspecifiedMatching MONDO:0013334 cocoon syndrome skos:exactMatch Orphanet:465824 Fetal encasement syndrome semapv:UnspecifiedMatching MONDO:0013334 cocoon syndrome skos:exactMatch UMLS:C3150891 semapv:UnspecifiedMatching MONDO:0013335 tuberculin skin test reactivity, absence of skos:exactMatch MEDGEN:462242 semapv:UnspecifiedMatching MONDO:0013335 tuberculin skin test reactivity, absence of skos:exactMatch OMIM:613636 tuberculin skin test reactivity, absence of semapv:UnspecifiedMatching MONDO:0013335 tuberculin skin test reactivity, absence of skos:exactMatch UMLS:C3150892 semapv:UnspecifiedMatching MONDO:0013336 chromosome 19p13.13 deletion syndrome skos:exactMatch DOID:0060426 chromosome 19p13.13 deletion syndrome semapv:UnspecifiedMatching MONDO:0013336 chromosome 19p13.13 deletion syndrome skos:exactMatch MEDGEN:462244 semapv:UnspecifiedMatching MONDO:0013336 chromosome 19p13.13 deletion syndrome skos:exactMatch OMIM:613638 chromosome 19p13.13 deletion syndrome semapv:UnspecifiedMatching MONDO:0013336 chromosome 19p13.13 deletion syndrome skos:exactMatch Orphanet:357001 19p13.13 microdeletion syndrome semapv:UnspecifiedMatching MONDO:0013336 chromosome 19p13.13 deletion syndrome skos:exactMatch SCTID:764440006 semapv:UnspecifiedMatching MONDO:0013336 chromosome 19p13.13 deletion syndrome skos:exactMatch UMLS:C3150894 semapv:UnspecifiedMatching MONDO:0013337 neuropathy, hereditary sensory and autonomic, type 1C skos:exactMatch DOID:0070157 hereditary sensory and autonomic neuropathy type 1C semapv:UnspecifiedMatching MONDO:0013337 neuropathy, hereditary sensory and autonomic, type 1C skos:exactMatch MEDGEN:462246 semapv:UnspecifiedMatching MONDO:0013337 neuropathy, hereditary sensory and autonomic, type 1C skos:exactMatch OMIM:613640 neuropathy, hereditary sensory and autonomic, type 1c semapv:UnspecifiedMatching MONDO:0013337 neuropathy, hereditary sensory and autonomic, type 1C skos:exactMatch UMLS:C3150896 semapv:UnspecifiedMatching MONDO:0013338 Charcot-Marie-Tooth disease recessive intermediate B skos:exactMatch DOID:0110204 Charcot-Marie-Tooth disease recessive intermediate B semapv:UnspecifiedMatching MONDO:0013338 Charcot-Marie-Tooth disease recessive intermediate B skos:exactMatch MEDGEN:462247 semapv:UnspecifiedMatching MONDO:0013338 Charcot-Marie-Tooth disease recessive intermediate B skos:exactMatch OMIM:613641 charcot-marie-tooth disease, recessive intermediate B semapv:UnspecifiedMatching MONDO:0013338 Charcot-Marie-Tooth disease recessive intermediate B skos:exactMatch Orphanet:254334 Autosomal recessive intermediate Charcot-Marie-Tooth disease type B semapv:UnspecifiedMatching MONDO:0013338 Charcot-Marie-Tooth disease recessive intermediate B skos:exactMatch UMLS:C3150897 semapv:UnspecifiedMatching MONDO:0013339 dilated cardiomyopathy 1GG skos:exactMatch DOID:0110435 dilated cardiomyopathy 1GG semapv:UnspecifiedMatching MONDO:0013339 dilated cardiomyopathy 1GG skos:exactMatch MEDGEN:462248 semapv:UnspecifiedMatching MONDO:0013339 dilated cardiomyopathy 1GG skos:exactMatch OMIM:613642 cardiomyopathy, dilated, 1gg semapv:UnspecifiedMatching MONDO:0013339 dilated cardiomyopathy 1GG skos:exactMatch UMLS:C3150898 semapv:UnspecifiedMatching MONDO:0013340 Parkinson disease 5, autosomal dominant, susceptibility to skos:exactMatch MEDGEN:462249 semapv:UnspecifiedMatching MONDO:0013340 Parkinson disease 5, autosomal dominant, susceptibility to skos:exactMatch OMIM:613643 parkinson disease 5, autosomal dominant, susceptibility to semapv:UnspecifiedMatching MONDO:0013340 Parkinson disease 5, autosomal dominant, susceptibility to skos:exactMatch UMLS:C3150899 semapv:UnspecifiedMatching MONDO:0013341 methylmalonic acidemia due to transcobalamin receptor defect skos:exactMatch DOID:0060741 methylmalonic acidemia due to transcobalamin receptor defect semapv:UnspecifiedMatching MONDO:0013341 methylmalonic acidemia due to transcobalamin receptor defect skos:exactMatch MEDGEN:1670056 semapv:UnspecifiedMatching MONDO:0013341 methylmalonic acidemia due to transcobalamin receptor defect skos:exactMatch OMIM:613646 methylmalonic aciduria, transient, due to transcobalamin receptor defect semapv:UnspecifiedMatching MONDO:0013341 methylmalonic acidemia due to transcobalamin receptor defect skos:exactMatch Orphanet:280183 Methylmalonic aciduria due to transcobalamin receptor defect semapv:UnspecifiedMatching MONDO:0013341 methylmalonic acidemia due to transcobalamin receptor defect skos:exactMatch UMLS:C4749905 semapv:UnspecifiedMatching MONDO:0013342 hereditary spastic paraplegia 48 skos:exactMatch DOID:0110800 hereditary spastic paraplegia 48 semapv:UnspecifiedMatching MONDO:0013342 hereditary spastic paraplegia 48 skos:exactMatch MEDGEN:462251 semapv:UnspecifiedMatching MONDO:0013342 hereditary spastic paraplegia 48 skos:exactMatch OMIM:613647 spastic paraplegia 48, autosomal recessive semapv:UnspecifiedMatching MONDO:0013342 hereditary spastic paraplegia 48 skos:exactMatch Orphanet:306511 Autosomal recessive spastic paraplegia type 48 semapv:UnspecifiedMatching MONDO:0013342 hereditary spastic paraplegia 48 skos:exactMatch SCTID:763367009 semapv:UnspecifiedMatching MONDO:0013342 hereditary spastic paraplegia 48 skos:exactMatch UMLS:C3150901 semapv:UnspecifiedMatching MONDO:0013343 C1Q deficiency skos:exactMatch MEDGEN:462252 semapv:UnspecifiedMatching MONDO:0013343 C1Q deficiency skos:exactMatch NCIT:C119990 C1q Deficiency semapv:UnspecifiedMatching MONDO:0013343 C1Q deficiency skos:exactMatch OMIMPS:613652 C1q deficiency semapv:UnspecifiedMatching MONDO:0013343 C1Q deficiency skos:exactMatch UMLS:C3150902 semapv:UnspecifiedMatching MONDO:0013344 migraine, with or without aura, susceptibility to, 13 skos:exactMatch MEDGEN:900808 semapv:UnspecifiedMatching MONDO:0013344 migraine, with or without aura, susceptibility to, 13 skos:exactMatch OMIM:613656 migraine with aura, susceptibility to, 13 semapv:UnspecifiedMatching MONDO:0013344 migraine, with or without aura, susceptibility to, 13 skos:exactMatch UMLS:C4225479 semapv:UnspecifiedMatching MONDO:0013345 d-2-hydroxyglutaric aciduria 2 skos:exactMatch DOID:0111352 D-2-hydroxyglutaric aciduria 2 semapv:UnspecifiedMatching MONDO:0013345 d-2-hydroxyglutaric aciduria 2 skos:exactMatch MEDGEN:462259 semapv:UnspecifiedMatching MONDO:0013345 d-2-hydroxyglutaric aciduria 2 skos:exactMatch OMIM:613657 d-2-hydroxyglutaric aciduria 2 semapv:UnspecifiedMatching MONDO:0013345 d-2-hydroxyglutaric aciduria 2 skos:exactMatch UMLS:C3150909 semapv:UnspecifiedMatching MONDO:0013348 cone-rod dystrophy 15 skos:exactMatch DOID:0111021 cone-rod dystrophy 15 semapv:UnspecifiedMatching MONDO:0013348 cone-rod dystrophy 15 skos:exactMatch MEDGEN:462262 semapv:UnspecifiedMatching MONDO:0013348 cone-rod dystrophy 15 skos:exactMatch OMIM:613660 cone-rod dystrophy 15 semapv:UnspecifiedMatching MONDO:0013348 cone-rod dystrophy 15 skos:exactMatch UMLS:C3150912 semapv:UnspecifiedMatching MONDO:0013349 ALG11-congenital disorder of glycosylation skos:exactMatch DOID:0080567 congenital disorder of glycosylation Ip semapv:UnspecifiedMatching MONDO:0013349 ALG11-congenital disorder of glycosylation skos:exactMatch MEDGEN:462263 semapv:UnspecifiedMatching MONDO:0013349 ALG11-congenital disorder of glycosylation skos:exactMatch OMIM:613661 congenital disorder of glycosylation, type ip semapv:UnspecifiedMatching MONDO:0013349 ALG11-congenital disorder of glycosylation skos:exactMatch Orphanet:280071 ALG11-CDG semapv:UnspecifiedMatching MONDO:0013349 ALG11-congenital disorder of glycosylation skos:exactMatch SCTID:733085004 semapv:UnspecifiedMatching MONDO:0013349 ALG11-congenital disorder of glycosylation skos:exactMatch UMLS:C3150913 semapv:UnspecifiedMatching MONDO:0013350 mitochondrial DNA depletion syndrome 4b skos:exactMatch DOID:0080123 mitochondrial DNA depletion syndrome 4b semapv:UnspecifiedMatching MONDO:0013350 mitochondrial DNA depletion syndrome 4b skos:exactMatch MEDGEN:462264 semapv:UnspecifiedMatching MONDO:0013350 mitochondrial DNA depletion syndrome 4b skos:exactMatch OMIM:613662 mitochondrial DNA depletion syndrome 4b (mngie type) semapv:UnspecifiedMatching MONDO:0013350 mitochondrial DNA depletion syndrome 4b skos:exactMatch UMLS:C3150914 semapv:UnspecifiedMatching MONDO:0013351 infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly skos:exactMatch DOID:0111262 infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly semapv:UnspecifiedMatching MONDO:0013351 infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly skos:exactMatch MEDGEN:462271 semapv:UnspecifiedMatching MONDO:0013351 infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly skos:exactMatch OMIM:613668 microcephaly, postnatal progressive, with seizures and brain atrophy semapv:UnspecifiedMatching MONDO:0013351 infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly skos:exactMatch Orphanet:402364 Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly semapv:UnspecifiedMatching MONDO:0013351 infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly skos:exactMatch UMLS:C3150921 semapv:UnspecifiedMatching MONDO:0013352 intellectual disability-severe speech delay-mild dysmorphism syndrome skos:exactMatch DOID:0111331 intellectual disability-severe speech delay-mild dysmorphism syndrome semapv:UnspecifiedMatching MONDO:0013352 intellectual disability-severe speech delay-mild dysmorphism syndrome skos:exactMatch MEDGEN:862201 semapv:UnspecifiedMatching MONDO:0013352 intellectual disability-severe speech delay-mild dysmorphism syndrome skos:exactMatch OMIM:613670 intellectual developmental disorder with language impairment and with or without autistic features semapv:UnspecifiedMatching MONDO:0013352 intellectual disability-severe speech delay-mild dysmorphism syndrome skos:exactMatch Orphanet:391372 FOXP1 Syndrome semapv:UnspecifiedMatching MONDO:0013352 intellectual disability-severe speech delay-mild dysmorphism syndrome skos:exactMatch UMLS:C4013764 semapv:UnspecifiedMatching MONDO:0013353 intellectual disability, anterior maxillary protrusion, and strabismus skos:exactMatch MEDGEN:462274 semapv:UnspecifiedMatching MONDO:0013353 intellectual disability, anterior maxillary protrusion, and strabismus skos:exactMatch OMIM:613671 impaired intellectual development, anterior maxillary protrusion, and strabismus semapv:UnspecifiedMatching MONDO:0013353 intellectual disability, anterior maxillary protrusion, and strabismus skos:exactMatch Orphanet:562559 Anterior maxillary protrusion-strabismus-intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0013353 intellectual disability, anterior maxillary protrusion, and strabismus skos:exactMatch UMLS:C3150924 semapv:UnspecifiedMatching MONDO:0013354 spastic ataxia 4 skos:exactMatch DOID:0050943 spastic ataxia 4 semapv:UnspecifiedMatching MONDO:0013354 spastic ataxia 4 skos:exactMatch MEDGEN:462275 semapv:UnspecifiedMatching MONDO:0013354 spastic ataxia 4 skos:exactMatch OMIM:613672 spastic ataxia 4, autosomal recessive semapv:UnspecifiedMatching MONDO:0013354 spastic ataxia 4 skos:exactMatch Orphanet:254343 Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome semapv:UnspecifiedMatching MONDO:0013354 spastic ataxia 4 skos:exactMatch UMLS:C3150925 semapv:UnspecifiedMatching MONDO:0013355 congenital dyserythropoietic anemia type 4 skos:exactMatch DOID:0111400 congenital dyserythropoietic anemia type IVa semapv:UnspecifiedMatching MONDO:0013355 congenital dyserythropoietic anemia type 4 skos:exactMatch MEDGEN:462276 semapv:UnspecifiedMatching MONDO:0013355 congenital dyserythropoietic anemia type 4 skos:exactMatch OMIM:613673 anemia, congenital dyserythropoietic, type iva semapv:UnspecifiedMatching MONDO:0013355 congenital dyserythropoietic anemia type 4 skos:exactMatch Orphanet:293825 Congenital dyserythropoietic anemia type IV semapv:UnspecifiedMatching MONDO:0013355 congenital dyserythropoietic anemia type 4 skos:exactMatch SCTID:719453009 semapv:UnspecifiedMatching MONDO:0013355 congenital dyserythropoietic anemia type 4 skos:exactMatch UMLS:C3150926 semapv:UnspecifiedMatching MONDO:0013356 vesicoureteral reflux 3 skos:exactMatch MEDGEN:462277 semapv:UnspecifiedMatching MONDO:0013356 vesicoureteral reflux 3 skos:exactMatch OMIM:613674 vesicoureteral reflux 3 semapv:UnspecifiedMatching MONDO:0013356 vesicoureteral reflux 3 skos:exactMatch UMLS:C3150927 semapv:UnspecifiedMatching MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb skos:exactMatch DOID:0060403 chromosome 17q11.2 deletion syndrome semapv:UnspecifiedMatching MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb skos:exactMatch MEDGEN:1726802 semapv:UnspecifiedMatching MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb skos:exactMatch OMIM:613675 chromosome 17q11.2 deletion syndrome, 1.4-mb semapv:UnspecifiedMatching MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb skos:exactMatch Orphanet:137634 Overgrowth-macrocephaly-facial dysmorphism syndrome semapv:UnspecifiedMatching MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb skos:exactMatch Orphanet:97685 17q11 microdeletion syndrome semapv:UnspecifiedMatching MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb skos:exactMatch SCTID:722122000 semapv:UnspecifiedMatching MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb skos:exactMatch UMLS:C5401456 semapv:UnspecifiedMatching MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb skos:exactMatch mesh:C563524 semapv:UnspecifiedMatching MONDO:0013358 Seckel syndrome 4 skos:exactMatch DOID:0070010 Seckel syndrome 4 semapv:UnspecifiedMatching MONDO:0013358 Seckel syndrome 4 skos:exactMatch MEDGEN:854819 semapv:UnspecifiedMatching MONDO:0013358 Seckel syndrome 4 skos:exactMatch OMIM:613676 seckel syndrome 4 semapv:UnspecifiedMatching MONDO:0013358 Seckel syndrome 4 skos:exactMatch UMLS:C3888212 semapv:UnspecifiedMatching MONDO:0013359 familial hyperaldosteronism type III skos:exactMatch MEDGEN:824604 semapv:UnspecifiedMatching MONDO:0013359 familial hyperaldosteronism type III skos:exactMatch OMIM:613677 hyperaldosteronism, familial, type 3 semapv:UnspecifiedMatching MONDO:0013359 familial hyperaldosteronism type III skos:exactMatch Orphanet:251274 Familial hyperaldosteronism type III semapv:UnspecifiedMatching MONDO:0013359 familial hyperaldosteronism type III skos:exactMatch SCTID:703234002 semapv:UnspecifiedMatching MONDO:0013359 familial hyperaldosteronism type III skos:exactMatch UMLS:C3838758 semapv:UnspecifiedMatching MONDO:0013360 brachyolmia, Maroteaux type skos:exactMatch MEDGEN:1777254 semapv:UnspecifiedMatching MONDO:0013360 brachyolmia, Maroteaux type skos:exactMatch OMIM:613678 brachyolmia type 2 semapv:UnspecifiedMatching MONDO:0013360 brachyolmia, Maroteaux type skos:exactMatch Orphanet:93302 Brachyolmia, Maroteaux type semapv:UnspecifiedMatching MONDO:0013360 brachyolmia, Maroteaux type skos:exactMatch SCTID:389165004 semapv:UnspecifiedMatching MONDO:0013360 brachyolmia, Maroteaux type skos:exactMatch UMLS:C5399913 semapv:UnspecifiedMatching MONDO:0013361 congenital prothrombin deficiency skos:exactMatch DOID:2235 prothrombin deficiency semapv:UnspecifiedMatching MONDO:0013361 congenital prothrombin deficiency skos:exactMatch MEDGEN:124425 semapv:UnspecifiedMatching MONDO:0013361 congenital prothrombin deficiency skos:exactMatch NCIT:C131737 Factor II Deficiency semapv:UnspecifiedMatching MONDO:0013361 congenital prothrombin deficiency skos:exactMatch OMIM:613679 prothrombin deficiency, congenital semapv:UnspecifiedMatching MONDO:0013361 congenital prothrombin deficiency skos:exactMatch Orphanet:325 Congenital factor II deficiency semapv:UnspecifiedMatching MONDO:0013361 congenital prothrombin deficiency skos:exactMatch SCTID:73975000 semapv:UnspecifiedMatching MONDO:0013361 congenital prothrombin deficiency skos:exactMatch UMLS:C0272317 semapv:UnspecifiedMatching MONDO:0013361 congenital prothrombin deficiency skos:exactMatch mesh:D007020 semapv:UnspecifiedMatching MONDO:0013362 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome skos:exactMatch MEDGEN:462289 semapv:UnspecifiedMatching MONDO:0013362 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome skos:exactMatch OMIM:613680 beaulieu-boycott-innes syndrome semapv:UnspecifiedMatching MONDO:0013362 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome skos:exactMatch Orphanet:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome semapv:UnspecifiedMatching MONDO:0013362 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome skos:exactMatch UMLS:C3150939 semapv:UnspecifiedMatching MONDO:0013363 chromosome 2q31.1 duplication syndrome skos:exactMatch DOID:0060458 chromosome 2q31.1 duplication syndrome semapv:UnspecifiedMatching MONDO:0013363 chromosome 2q31.1 duplication syndrome skos:exactMatch MEDGEN:462290 semapv:UnspecifiedMatching MONDO:0013363 chromosome 2q31.1 duplication syndrome skos:exactMatch OMIM:613681 chromosome 2q31.1 duplication syndrome semapv:UnspecifiedMatching MONDO:0013363 chromosome 2q31.1 duplication syndrome skos:exactMatch Orphanet:294026 Syndactyly-nystagmus syndrome due to 2q31.1 microduplication semapv:UnspecifiedMatching MONDO:0013363 chromosome 2q31.1 duplication syndrome skos:exactMatch UMLS:C3150940 semapv:UnspecifiedMatching MONDO:0013364 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency skos:exactMatch MEDGEN:462291 semapv:UnspecifiedMatching MONDO:0013364 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency skos:exactMatch NCIT:C153291 Rubinstein-Taybi Syndrome Type 2 semapv:UnspecifiedMatching MONDO:0013364 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency skos:exactMatch OMIM:613684 rubinstein-taybi syndrome 2 semapv:UnspecifiedMatching MONDO:0013364 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency skos:exactMatch Orphanet:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency semapv:UnspecifiedMatching MONDO:0013364 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency skos:exactMatch UMLS:C3150941 semapv:UnspecifiedMatching MONDO:0013365 autosomal recessive nonsyndromic hearing loss 83 skos:exactMatch DOID:0110528 autosomal recessive nonsyndromic deafness 83 semapv:UnspecifiedMatching MONDO:0013365 autosomal recessive nonsyndromic hearing loss 83 skos:exactMatch MEDGEN:854856 semapv:UnspecifiedMatching MONDO:0013365 autosomal recessive nonsyndromic hearing loss 83 skos:exactMatch OMIM:613685 deafness, autosomal recessive 83 semapv:UnspecifiedMatching MONDO:0013365 autosomal recessive nonsyndromic hearing loss 83 skos:exactMatch UMLS:C3888310 semapv:UnspecifiedMatching MONDO:0013366 spondylocostal dysostosis 4, autosomal recessive skos:exactMatch DOID:0112364 spondylocostal dysostosis 4 semapv:UnspecifiedMatching MONDO:0013366 spondylocostal dysostosis 4, autosomal recessive skos:exactMatch MEDGEN:462292 semapv:UnspecifiedMatching MONDO:0013366 spondylocostal dysostosis 4, autosomal recessive skos:exactMatch OMIM:613686 spondylocostal dysostosis 4, autosomal recessive semapv:UnspecifiedMatching MONDO:0013366 spondylocostal dysostosis 4, autosomal recessive skos:exactMatch UMLS:C3150942 semapv:UnspecifiedMatching MONDO:0013367 long QT syndrome 2 skos:exactMatch DOID:0110645 long QT syndrome 2 semapv:UnspecifiedMatching MONDO:0013367 long QT syndrome 2 skos:exactMatch MEDGEN:462293 semapv:UnspecifiedMatching MONDO:0013367 long QT syndrome 2 skos:exactMatch NCIT:C137957 Long QT Syndrome 2 semapv:UnspecifiedMatching MONDO:0013367 long QT syndrome 2 skos:exactMatch OMIM:613688 long qt syndrome 2 semapv:UnspecifiedMatching MONDO:0013367 long QT syndrome 2 skos:exactMatch UMLS:C3150943 semapv:UnspecifiedMatching MONDO:0013367 long QT syndrome 2 skos:exactMatch mesh:C563614 semapv:UnspecifiedMatching MONDO:0013368 mammary-digital-nail syndrome skos:exactMatch MEDGEN:462296 semapv:UnspecifiedMatching MONDO:0013368 mammary-digital-nail syndrome skos:exactMatch OMIM:613689 mammary-digital-nail syndrome semapv:UnspecifiedMatching MONDO:0013368 mammary-digital-nail syndrome skos:exactMatch Orphanet:238744 Mammary-digital-nail syndrome semapv:UnspecifiedMatching MONDO:0013368 mammary-digital-nail syndrome skos:exactMatch SCTID:718679004 semapv:UnspecifiedMatching MONDO:0013368 mammary-digital-nail syndrome skos:exactMatch UMLS:C3150946 semapv:UnspecifiedMatching MONDO:0013369 hypertrophic cardiomyopathy 7 skos:exactMatch DOID:0110313 hypertrophic cardiomyopathy 7 semapv:UnspecifiedMatching MONDO:0013369 hypertrophic cardiomyopathy 7 skos:exactMatch MEDGEN:348695 semapv:UnspecifiedMatching MONDO:0013369 hypertrophic cardiomyopathy 7 skos:exactMatch OMIM:613690 cardiomyopathy, familial hypertrophic, 7 semapv:UnspecifiedMatching MONDO:0013369 hypertrophic cardiomyopathy 7 skos:exactMatch UMLS:C1860752 semapv:UnspecifiedMatching MONDO:0013370 long QT syndrome 6 skos:exactMatch DOID:0110648 long QT syndrome 6 semapv:UnspecifiedMatching MONDO:0013370 long QT syndrome 6 skos:exactMatch MEDGEN:462303 semapv:UnspecifiedMatching MONDO:0013370 long QT syndrome 6 skos:exactMatch OMIM:613693 long qt syndrome 6 semapv:UnspecifiedMatching MONDO:0013370 long QT syndrome 6 skos:exactMatch UMLS:C3150953 semapv:UnspecifiedMatching MONDO:0013370 long QT syndrome 6 skos:exactMatch mesh:C566333 semapv:UnspecifiedMatching MONDO:0013371 dilated cardiomyopathy 1U skos:exactMatch DOID:0110455 dilated cardiomyopathy 1U semapv:UnspecifiedMatching MONDO:0013371 dilated cardiomyopathy 1U skos:exactMatch MEDGEN:463620 semapv:UnspecifiedMatching MONDO:0013371 dilated cardiomyopathy 1U skos:exactMatch OMIM:613694 cardiomyopathy, dilated, 1u semapv:UnspecifiedMatching MONDO:0013371 dilated cardiomyopathy 1U skos:exactMatch UMLS:C3160720 semapv:UnspecifiedMatching MONDO:0013371 dilated cardiomyopathy 1U skos:exactMatch mesh:C566296 semapv:UnspecifiedMatching MONDO:0013372 long QT syndrome 5 skos:exactMatch DOID:0110647 long QT syndrome 5 semapv:UnspecifiedMatching MONDO:0013372 long QT syndrome 5 skos:exactMatch MEDGEN:358092 semapv:UnspecifiedMatching MONDO:0013372 long QT syndrome 5 skos:exactMatch NCIT:C172094 Long QT Syndrome 5 semapv:UnspecifiedMatching MONDO:0013372 long QT syndrome 5 skos:exactMatch OMIM:613695 long qt syndrome 5 semapv:UnspecifiedMatching MONDO:0013372 long QT syndrome 5 skos:exactMatch UMLS:C1867904 semapv:UnspecifiedMatching MONDO:0013372 long QT syndrome 5 skos:exactMatch mesh:C566766 semapv:UnspecifiedMatching MONDO:0013373 dilated cardiomyopathy 1V skos:exactMatch DOID:0110427 dilated cardiomyopathy 1V semapv:UnspecifiedMatching MONDO:0013373 dilated cardiomyopathy 1V skos:exactMatch MEDGEN:462308 semapv:UnspecifiedMatching MONDO:0013373 dilated cardiomyopathy 1V skos:exactMatch OMIM:613697 cardiomyopathy, dilated, 1v semapv:UnspecifiedMatching MONDO:0013373 dilated cardiomyopathy 1V skos:exactMatch UMLS:C3150958 semapv:UnspecifiedMatching MONDO:0013373 dilated cardiomyopathy 1V skos:exactMatch mesh:C566856 semapv:UnspecifiedMatching MONDO:0013374 supernumerary der(22)t(8;22) syndrome skos:exactMatch OMIM:613700 supernumerary der(22)t(8 semapv:UnspecifiedMatching MONDO:0013375 Klippel-Feil syndrome 3, autosomal dominant skos:exactMatch DOID:0080591 Klippel-Feil syndrome 3 semapv:UnspecifiedMatching MONDO:0013375 Klippel-Feil syndrome 3, autosomal dominant skos:exactMatch MEDGEN:462317 semapv:UnspecifiedMatching MONDO:0013375 Klippel-Feil syndrome 3, autosomal dominant skos:exactMatch OMIM:613702 klippel-feil syndrome 3, autosomal dominant semapv:UnspecifiedMatching MONDO:0013375 Klippel-Feil syndrome 3, autosomal dominant skos:exactMatch UMLS:C3150967 semapv:UnspecifiedMatching MONDO:0013376 microphthalmia, isolated, with coloboma 6 skos:exactMatch MEDGEN:462318 semapv:UnspecifiedMatching MONDO:0013376 microphthalmia, isolated, with coloboma 6 skos:exactMatch OMIM:613703 microphthalmia/coloboma 6 semapv:UnspecifiedMatching MONDO:0013376 microphthalmia, isolated, with coloboma 6 skos:exactMatch UMLS:C3150968 semapv:UnspecifiedMatching MONDO:0013377 isolated microphthalmia 7 skos:exactMatch DOID:0060838 isolated microphthalmia 7 semapv:UnspecifiedMatching MONDO:0013377 isolated microphthalmia 7 skos:exactMatch MEDGEN:462319 semapv:UnspecifiedMatching MONDO:0013377 isolated microphthalmia 7 skos:exactMatch OMIM:613704 microphthalmia, isolated 7 semapv:UnspecifiedMatching MONDO:0013377 isolated microphthalmia 7 skos:exactMatch UMLS:C3150969 semapv:UnspecifiedMatching MONDO:0013378 orofacial cleft 10 skos:exactMatch DOID:0080403 orofacial cleft 10 semapv:UnspecifiedMatching MONDO:0013378 orofacial cleft 10 skos:exactMatch MEDGEN:355621 semapv:UnspecifiedMatching MONDO:0013378 orofacial cleft 10 skos:exactMatch OMIM:613705 orofacial cleft 10 semapv:UnspecifiedMatching MONDO:0013378 orofacial cleft 10 skos:exactMatch UMLS:C1866070 semapv:UnspecifiedMatching MONDO:0013378 orofacial cleft 10 skos:exactMatch mesh:C566605 semapv:UnspecifiedMatching MONDO:0013379 Noonan syndrome 7 skos:exactMatch DOID:0060585 Noonan syndrome 7 semapv:UnspecifiedMatching MONDO:0013379 Noonan syndrome 7 skos:exactMatch MEDGEN:462320 semapv:UnspecifiedMatching MONDO:0013379 Noonan syndrome 7 skos:exactMatch NCIT:C176935 Noonan Syndrome 7 semapv:UnspecifiedMatching MONDO:0013379 Noonan syndrome 7 skos:exactMatch OMIM:613706 noonan syndrome 7 semapv:UnspecifiedMatching MONDO:0013379 Noonan syndrome 7 skos:exactMatch UMLS:C3150970 semapv:UnspecifiedMatching MONDO:0013380 LEOPARD syndrome 3 skos:exactMatch DOID:0080550 Noonan syndrome with multiple lentigines 3 semapv:UnspecifiedMatching MONDO:0013380 LEOPARD syndrome 3 skos:exactMatch MEDGEN:462321 semapv:UnspecifiedMatching MONDO:0013380 LEOPARD syndrome 3 skos:exactMatch OMIM:613707 leopard syndrome 3 semapv:UnspecifiedMatching MONDO:0013380 LEOPARD syndrome 3 skos:exactMatch UMLS:C3150971 semapv:UnspecifiedMatching MONDO:0013381 neuropathy, hereditary sensory, type 1D skos:exactMatch DOID:0070156 hereditary sensory neuropathy type 1D semapv:UnspecifiedMatching MONDO:0013381 neuropathy, hereditary sensory, type 1D skos:exactMatch MEDGEN:462322 semapv:UnspecifiedMatching MONDO:0013381 neuropathy, hereditary sensory, type 1D skos:exactMatch OMIM:613708 neuropathy, hereditary sensory, type 1d semapv:UnspecifiedMatching MONDO:0013381 neuropathy, hereditary sensory, type 1D skos:exactMatch UMLS:C3150972 semapv:UnspecifiedMatching MONDO:0013382 progressive demyelinating neuropathy with bilateral striatal necrosis skos:exactMatch MEDGEN:462323 semapv:UnspecifiedMatching MONDO:0013382 progressive demyelinating neuropathy with bilateral striatal necrosis skos:exactMatch OMIM:613710 thiamine metabolism dysfunction syndrome 4 (bilateral striatal degeneration and progressive polyneuropathy type) semapv:UnspecifiedMatching MONDO:0013382 progressive demyelinating neuropathy with bilateral striatal necrosis skos:exactMatch Orphanet:217396 Progressive polyneuropathy with bilateral striatal necrosis semapv:UnspecifiedMatching MONDO:0013382 progressive demyelinating neuropathy with bilateral striatal necrosis skos:exactMatch UMLS:C3150973 semapv:UnspecifiedMatching MONDO:0013383 Hirschsprung disease, susceptibility to, 3 skos:exactMatch MEDGEN:462324 semapv:UnspecifiedMatching MONDO:0013383 Hirschsprung disease, susceptibility to, 3 skos:exactMatch OMIM:613711 hirschsprung disease, susceptibility to, 3 semapv:UnspecifiedMatching MONDO:0013383 Hirschsprung disease, susceptibility to, 3 skos:exactMatch UMLS:C3150974 semapv:UnspecifiedMatching MONDO:0013383 Hirschsprung disease, susceptibility to, 3 skos:exactMatch mesh:C538121 semapv:UnspecifiedMatching MONDO:0013384 Hirschsprung disease, susceptibility to, 4 skos:exactMatch MEDGEN:462325 semapv:UnspecifiedMatching MONDO:0013384 Hirschsprung disease, susceptibility to, 4 skos:exactMatch OMIM:613712 hirschsprung disease, susceptibility to, 4 semapv:UnspecifiedMatching MONDO:0013384 Hirschsprung disease, susceptibility to, 4 skos:exactMatch UMLS:C3150975 semapv:UnspecifiedMatching MONDO:0013385 Treacher Collins syndrome 2 skos:exactMatch DOID:0080790 Treacher Collins syndrome 2 semapv:UnspecifiedMatching MONDO:0013385 Treacher Collins syndrome 2 skos:exactMatch MEDGEN:462333 semapv:UnspecifiedMatching MONDO:0013385 Treacher Collins syndrome 2 skos:exactMatch OMIM:613717 treacher collins syndrome 2 semapv:UnspecifiedMatching MONDO:0013385 Treacher Collins syndrome 2 skos:exactMatch UMLS:C3150983 semapv:UnspecifiedMatching MONDO:0013386 autosomal recessive nonsyndromic hearing loss 74 skos:exactMatch DOID:0110523 autosomal recessive nonsyndromic deafness 74 semapv:UnspecifiedMatching MONDO:0013386 autosomal recessive nonsyndromic hearing loss 74 skos:exactMatch MEDGEN:453237 semapv:UnspecifiedMatching MONDO:0013386 autosomal recessive nonsyndromic hearing loss 74 skos:exactMatch OMIM:613718 deafness, autosomal recessive 74 semapv:UnspecifiedMatching MONDO:0013386 autosomal recessive nonsyndromic hearing loss 74 skos:exactMatch UMLS:C2239351 semapv:UnspecifiedMatching MONDO:0013387 developmental and epileptic encephalopathy, 7 skos:exactMatch DOID:0080462 developmental and epileptic encephalopathy 7 semapv:UnspecifiedMatching MONDO:0013387 developmental and epileptic encephalopathy, 7 skos:exactMatch MEDGEN:462336 semapv:UnspecifiedMatching MONDO:0013387 developmental and epileptic encephalopathy, 7 skos:exactMatch OMIM:613720 developmental and epileptic encephalopathy 7 semapv:UnspecifiedMatching MONDO:0013387 developmental and epileptic encephalopathy, 7 skos:exactMatch Orphanet:439218 KCNQ2-related developmental and epileptic encephalopathy semapv:UnspecifiedMatching MONDO:0013387 developmental and epileptic encephalopathy, 7 skos:exactMatch UMLS:C3150986 semapv:UnspecifiedMatching MONDO:0013388 developmental and epileptic encephalopathy, 11 skos:exactMatch DOID:0080421 developmental and epileptic encephalopathy 11 semapv:UnspecifiedMatching MONDO:0013388 developmental and epileptic encephalopathy, 11 skos:exactMatch MEDGEN:462337 semapv:UnspecifiedMatching MONDO:0013388 developmental and epileptic encephalopathy, 11 skos:exactMatch OMIM:613721 developmental and epileptic encephalopathy 11 semapv:UnspecifiedMatching MONDO:0013388 developmental and epileptic encephalopathy, 11 skos:exactMatch UMLS:C3150987 semapv:UnspecifiedMatching MONDO:0013389 developmental and epileptic encephalopathy, 12 skos:exactMatch DOID:0080459 developmental and epileptic encephalopathy 12 semapv:UnspecifiedMatching MONDO:0013389 developmental and epileptic encephalopathy, 12 skos:exactMatch MEDGEN:462338 semapv:UnspecifiedMatching MONDO:0013389 developmental and epileptic encephalopathy, 12 skos:exactMatch OMIM:613722 developmental and epileptic encephalopathy 12 semapv:UnspecifiedMatching MONDO:0013389 developmental and epileptic encephalopathy, 12 skos:exactMatch UMLS:C3150988 semapv:UnspecifiedMatching MONDO:0013390 autosomal recessive limb-girdle muscular dystrophy type 2Q skos:exactMatch DOID:0110285 autosomal recessive limb-girdle muscular dystrophy type 2Q semapv:UnspecifiedMatching MONDO:0013390 autosomal recessive limb-girdle muscular dystrophy type 2Q skos:exactMatch MEDGEN:462339 semapv:UnspecifiedMatching MONDO:0013390 autosomal recessive limb-girdle muscular dystrophy type 2Q skos:exactMatch OMIM:613723 muscular dystrophy, limb-girdle, autosomal recessive 17 semapv:UnspecifiedMatching MONDO:0013390 autosomal recessive limb-girdle muscular dystrophy type 2Q skos:exactMatch Orphanet:254361 Plectin-related limb-girdle muscular dystrophy R17 semapv:UnspecifiedMatching MONDO:0013390 autosomal recessive limb-girdle muscular dystrophy type 2Q skos:exactMatch UMLS:C3150989 semapv:UnspecifiedMatching MONDO:0013391 sterol carrier protein 2 deficiency skos:exactMatch MEDGEN:462340 semapv:UnspecifiedMatching MONDO:0013391 sterol carrier protein 2 deficiency skos:exactMatch OMIM:613724 leukoencephalopathy with dystonia and motor neuropathy semapv:UnspecifiedMatching MONDO:0013391 sterol carrier protein 2 deficiency skos:exactMatch Orphanet:163684 Leukoencephalopathy-dystonia-motor neuropathy syndrome semapv:UnspecifiedMatching MONDO:0013391 sterol carrier protein 2 deficiency skos:exactMatch UMLS:C3150990 semapv:UnspecifiedMatching MONDO:0013392 autosomal recessive spinocerebellar ataxia 10 skos:exactMatch DOID:0050999 autosomal recessive spinocerebellar ataxia 10 semapv:UnspecifiedMatching MONDO:0013392 autosomal recessive spinocerebellar ataxia 10 skos:exactMatch MEDGEN:462348 semapv:UnspecifiedMatching MONDO:0013392 autosomal recessive spinocerebellar ataxia 10 skos:exactMatch OMIM:613728 spinocerebellar ataxia, autosomal recessive 10 semapv:UnspecifiedMatching MONDO:0013392 autosomal recessive spinocerebellar ataxia 10 skos:exactMatch Orphanet:284289 Adult-onset autosomal recessive cerebellar ataxia semapv:UnspecifiedMatching MONDO:0013392 autosomal recessive spinocerebellar ataxia 10 skos:exactMatch UMLS:C3150998 semapv:UnspecifiedMatching MONDO:0013393 distal 7q11.23 microdeletion syndrome skos:exactMatch MEDGEN:462349 semapv:UnspecifiedMatching MONDO:0013393 distal 7q11.23 microdeletion syndrome skos:exactMatch OMIM:613729 chromosome 7q11.23 deletion syndrome, distal, 1.2-mb semapv:UnspecifiedMatching MONDO:0013393 distal 7q11.23 microdeletion syndrome skos:exactMatch Orphanet:254351 Distal 7q11.23 microdeletion syndrome semapv:UnspecifiedMatching MONDO:0013393 distal 7q11.23 microdeletion syndrome skos:exactMatch UMLS:C3150999 semapv:UnspecifiedMatching MONDO:0013394 porencephaly-microcephaly-bilateral congenital cataract syndrome skos:exactMatch MEDGEN:462350 semapv:UnspecifiedMatching MONDO:0013394 porencephaly-microcephaly-bilateral congenital cataract syndrome skos:exactMatch OMIM:613730 hemorrhagic destruction of the brain, subependymal calcification, and cataracts semapv:UnspecifiedMatching MONDO:0013394 porencephaly-microcephaly-bilateral congenital cataract syndrome skos:exactMatch Orphanet:306547 Porencephaly-microcephaly-bilateral congenital cataract syndrome semapv:UnspecifiedMatching MONDO:0013394 porencephaly-microcephaly-bilateral congenital cataract syndrome skos:exactMatch UMLS:C3151000 semapv:UnspecifiedMatching MONDO:0013395 retinitis pigmentosa 4 skos:exactMatch DOID:0110372 retinitis pigmentosa 4 semapv:UnspecifiedMatching MONDO:0013395 retinitis pigmentosa 4 skos:exactMatch MEDGEN:462351 semapv:UnspecifiedMatching MONDO:0013395 retinitis pigmentosa 4 skos:exactMatch OMIM:613731 retinitis pigmentosa 4 semapv:UnspecifiedMatching MONDO:0013395 retinitis pigmentosa 4 skos:exactMatch UMLS:C3151001 semapv:UnspecifiedMatching MONDO:0013395 retinitis pigmentosa 4 skos:exactMatch mesh:C566706 semapv:UnspecifiedMatching MONDO:0013396 chromosome 1p32-p31 deletion syndrome skos:exactMatch DOID:0060409 NFIA-related disorder semapv:UnspecifiedMatching MONDO:0013396 chromosome 1p32-p31 deletion syndrome skos:exactMatch MEDGEN:1636078 semapv:UnspecifiedMatching MONDO:0013396 chromosome 1p32-p31 deletion syndrome skos:exactMatch Orphanet:401986 1p31p32 microdeletion syndrome semapv:UnspecifiedMatching MONDO:0013396 chromosome 1p32-p31 deletion syndrome skos:exactMatch SCTID:766766005 semapv:UnspecifiedMatching MONDO:0013396 chromosome 1p32-p31 deletion syndrome skos:exactMatch UMLS:C4707828 semapv:UnspecifiedMatching MONDO:0013397 acne inversa, familial, 2 skos:exactMatch MEDGEN:462387 semapv:UnspecifiedMatching MONDO:0013397 acne inversa, familial, 2 skos:exactMatch OMIM:613736 acne inversa, familial, 2, with or without dowling-degos disease semapv:UnspecifiedMatching MONDO:0013397 acne inversa, familial, 2 skos:exactMatch UMLS:C3151037 semapv:UnspecifiedMatching MONDO:0013398 acne inversa, familial, 3 skos:exactMatch MEDGEN:462388 semapv:UnspecifiedMatching MONDO:0013398 acne inversa, familial, 3 skos:exactMatch OMIM:613737 acne inversa, familial, 3 semapv:UnspecifiedMatching MONDO:0013398 acne inversa, familial, 3 skos:exactMatch UMLS:C3151038 semapv:UnspecifiedMatching MONDO:0013400 Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency skos:exactMatch DOID:0050546 congenital adrenal insufficiency semapv:UnspecifiedMatching MONDO:0013400 Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency skos:exactMatch MEDGEN:462405 semapv:UnspecifiedMatching MONDO:0013400 Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency skos:exactMatch NCIT:C131422 Cholesterol Side-Chain Cleavage Deficiency semapv:UnspecifiedMatching MONDO:0013400 Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency skos:exactMatch OMIM:613743 adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete semapv:UnspecifiedMatching MONDO:0013400 Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency skos:exactMatch Orphanet:168558 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency semapv:UnspecifiedMatching MONDO:0013400 Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency skos:exactMatch UMLS:C3151055 semapv:UnspecifiedMatching MONDO:0013400 Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency skos:exactMatch mesh:C566130 semapv:UnspecifiedMatching MONDO:0013401 hereditary spastic paraplegia 51 skos:exactMatch DOID:0110803 hereditary spastic paraplegia 51 semapv:UnspecifiedMatching MONDO:0013401 hereditary spastic paraplegia 51 skos:exactMatch MEDGEN:462406 semapv:UnspecifiedMatching MONDO:0013401 hereditary spastic paraplegia 51 skos:exactMatch OMIM:613744 spastic paraplegia 51, autosomal recessive semapv:UnspecifiedMatching MONDO:0013401 hereditary spastic paraplegia 51 skos:exactMatch UMLS:C3151056 semapv:UnspecifiedMatching MONDO:0013402 retinitis pigmentosa 27 skos:exactMatch DOID:0110397 retinitis pigmentosa 27 semapv:UnspecifiedMatching MONDO:0013402 retinitis pigmentosa 27 skos:exactMatch MEDGEN:320323 semapv:UnspecifiedMatching MONDO:0013402 retinitis pigmentosa 27 skos:exactMatch OMIM:613750 retinitis pigmentosa 27 semapv:UnspecifiedMatching MONDO:0013402 retinitis pigmentosa 27 skos:exactMatch UMLS:C1834329 semapv:UnspecifiedMatching MONDO:0013402 retinitis pigmentosa 27 skos:exactMatch mesh:C563526 semapv:UnspecifiedMatching MONDO:0013403 heterotaxy, visceral, 4, autosomal skos:exactMatch DOID:0051019 visceral heterotaxy 4 semapv:UnspecifiedMatching MONDO:0013403 heterotaxy, visceral, 4, autosomal skos:exactMatch MEDGEN:462407 semapv:UnspecifiedMatching MONDO:0013403 heterotaxy, visceral, 4, autosomal skos:exactMatch OMIM:613751 heterotaxy, visceral, 4, autosomal semapv:UnspecifiedMatching MONDO:0013403 heterotaxy, visceral, 4, autosomal skos:exactMatch UMLS:C3151057 semapv:UnspecifiedMatching MONDO:0013404 hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase skos:exactMatch DOID:0111039 hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase semapv:UnspecifiedMatching MONDO:0013404 hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase skos:exactMatch MEDGEN:462408 semapv:UnspecifiedMatching MONDO:0013404 hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase skos:exactMatch OMIM:613752 hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency semapv:UnspecifiedMatching MONDO:0013404 hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase skos:exactMatch Orphanet:88618 S-adenosylhomocysteine hydrolase deficiency semapv:UnspecifiedMatching MONDO:0013404 hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase skos:exactMatch SCTID:724039002 semapv:UnspecifiedMatching MONDO:0013404 hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase skos:exactMatch UMLS:C3151058 semapv:UnspecifiedMatching MONDO:0013405 retinitis pigmentosa 49 skos:exactMatch DOID:0110377 retinitis pigmentosa 49 semapv:UnspecifiedMatching MONDO:0013405 retinitis pigmentosa 49 skos:exactMatch MEDGEN:462409 semapv:UnspecifiedMatching MONDO:0013405 retinitis pigmentosa 49 skos:exactMatch OMIM:613756 retinitis pigmentosa 49 semapv:UnspecifiedMatching MONDO:0013405 retinitis pigmentosa 49 skos:exactMatch UMLS:C3151059 semapv:UnspecifiedMatching MONDO:0013406 age related macular degeneration 6 skos:exactMatch DOID:0110018 age related macular degeneration 6 semapv:UnspecifiedMatching MONDO:0013406 age related macular degeneration 6 skos:exactMatch MEDGEN:462410 semapv:UnspecifiedMatching MONDO:0013406 age related macular degeneration 6 skos:exactMatch OMIM:613757 macular degeneration, age-related, 6 semapv:UnspecifiedMatching MONDO:0013406 age related macular degeneration 6 skos:exactMatch UMLS:C3151060 semapv:UnspecifiedMatching MONDO:0013406 age related macular degeneration 6 skos:exactMatch mesh:C563674 semapv:UnspecifiedMatching MONDO:0013407 retinitis pigmentosa 47 skos:exactMatch DOID:0110369 retinitis pigmentosa 47 semapv:UnspecifiedMatching MONDO:0013407 retinitis pigmentosa 47 skos:exactMatch MEDGEN:462411 semapv:UnspecifiedMatching MONDO:0013407 retinitis pigmentosa 47 skos:exactMatch OMIM:613758 retinitis pigmentosa 47 semapv:UnspecifiedMatching MONDO:0013407 retinitis pigmentosa 47 skos:exactMatch UMLS:C3151061 semapv:UnspecifiedMatching MONDO:0013408 FADD-related immunodeficiency skos:exactMatch DOID:0061060 immunodeficiency 90 semapv:UnspecifiedMatching MONDO:0013408 FADD-related immunodeficiency skos:exactMatch MEDGEN:462412 semapv:UnspecifiedMatching MONDO:0013408 FADD-related immunodeficiency skos:exactMatch OMIM:613759 immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunction semapv:UnspecifiedMatching MONDO:0013408 FADD-related immunodeficiency skos:exactMatch Orphanet:306550 FADD-related immunodeficiency semapv:UnspecifiedMatching MONDO:0013408 FADD-related immunodeficiency skos:exactMatch SCTID:723334006 semapv:UnspecifiedMatching MONDO:0013408 FADD-related immunodeficiency skos:exactMatch UMLS:C3151062 semapv:UnspecifiedMatching MONDO:0013408 FADD-related immunodeficiency skos:exactMatch icd11.foundation:440676168 FADD-related immunodeficiency semapv:UnspecifiedMatching MONDO:0013409 age related macular degeneration 5 skos:exactMatch DOID:0110028 age related macular degeneration 5 semapv:UnspecifiedMatching MONDO:0013409 age related macular degeneration 5 skos:exactMatch MEDGEN:462413 semapv:UnspecifiedMatching MONDO:0013409 age related macular degeneration 5 skos:exactMatch OMIM:613761 macular degeneration, age-related, 5 semapv:UnspecifiedMatching MONDO:0013409 age related macular degeneration 5 skos:exactMatch UMLS:C3151063 semapv:UnspecifiedMatching MONDO:0013410 46,XY sex reversal 6 skos:exactMatch DOID:0111769 46,XY sex reversal 6 semapv:UnspecifiedMatching MONDO:0013410 46,XY sex reversal 6 skos:exactMatch MEDGEN:462414 semapv:UnspecifiedMatching MONDO:0013410 46,XY sex reversal 6 skos:exactMatch OMIM:613762 46,xy sex reversal 6 semapv:UnspecifiedMatching MONDO:0013410 46,XY sex reversal 6 skos:exactMatch UMLS:C3151064 semapv:UnspecifiedMatching MONDO:0013411 cataract 16 multiple types skos:exactMatch DOID:0110250 cataract 16 multiple types semapv:UnspecifiedMatching MONDO:0013411 cataract 16 multiple types skos:exactMatch MEDGEN:814707 semapv:UnspecifiedMatching MONDO:0013411 cataract 16 multiple types skos:exactMatch OMIM:613763 cataract 16, multiple types semapv:UnspecifiedMatching MONDO:0013411 cataract 16 multiple types skos:exactMatch UMLS:C3808377 semapv:UnspecifiedMatching MONDO:0013411 cataract 16 multiple types skos:exactMatch mesh:C565134 semapv:UnspecifiedMatching MONDO:0013412 hypertrophic cardiomyopathy 9 skos:exactMatch DOID:0110315 hypertrophic cardiomyopathy 9 semapv:UnspecifiedMatching MONDO:0013412 hypertrophic cardiomyopathy 9 skos:exactMatch MEDGEN:348780 semapv:UnspecifiedMatching MONDO:0013412 hypertrophic cardiomyopathy 9 skos:exactMatch OMIM:613765 cardiomyopathy, familial hypertrophic, 9 semapv:UnspecifiedMatching MONDO:0013412 hypertrophic cardiomyopathy 9 skos:exactMatch UMLS:C1861065 semapv:UnspecifiedMatching MONDO:0013412 hypertrophic cardiomyopathy 9 skos:exactMatch mesh:C566044 semapv:UnspecifiedMatching MONDO:0013413 retinitis pigmentosa 45 skos:exactMatch DOID:0110402 retinitis pigmentosa 45 semapv:UnspecifiedMatching MONDO:0013413 retinitis pigmentosa 45 skos:exactMatch MEDGEN:462416 semapv:UnspecifiedMatching MONDO:0013413 retinitis pigmentosa 45 skos:exactMatch OMIM:613767 retinitis pigmentosa 45 semapv:UnspecifiedMatching MONDO:0013413 retinitis pigmentosa 45 skos:exactMatch UMLS:C3151066 semapv:UnspecifiedMatching MONDO:0013414 retinitis pigmentosa 44 skos:exactMatch DOID:0110394 retinitis pigmentosa 44 semapv:UnspecifiedMatching MONDO:0013414 retinitis pigmentosa 44 skos:exactMatch MEDGEN:462418 semapv:UnspecifiedMatching MONDO:0013414 retinitis pigmentosa 44 skos:exactMatch OMIM:613769 retinitis pigmentosa 44 semapv:UnspecifiedMatching MONDO:0013414 retinitis pigmentosa 44 skos:exactMatch UMLS:C3151068 semapv:UnspecifiedMatching MONDO:0013415 chromosome 17p13.1 deletion syndrome skos:exactMatch DOID:0060402 chromosome 17p13.1 deletion syndrome semapv:UnspecifiedMatching MONDO:0013415 chromosome 17p13.1 deletion syndrome skos:exactMatch MEDGEN:462419 semapv:UnspecifiedMatching MONDO:0013415 chromosome 17p13.1 deletion syndrome skos:exactMatch OMIM:613776 chromosome 17p13.1 deletion syndrome semapv:UnspecifiedMatching MONDO:0013415 chromosome 17p13.1 deletion syndrome skos:exactMatch UMLS:C3151069 semapv:UnspecifiedMatching MONDO:0013416 age related macular degeneration 8 skos:exactMatch DOID:0110020 age related macular degeneration 8 semapv:UnspecifiedMatching MONDO:0013416 age related macular degeneration 8 skos:exactMatch MEDGEN:462420 semapv:UnspecifiedMatching MONDO:0013416 age related macular degeneration 8 skos:exactMatch OMIM:613778 macular degeneration, age-related, 8 semapv:UnspecifiedMatching MONDO:0013416 age related macular degeneration 8 skos:exactMatch UMLS:C3151070 semapv:UnspecifiedMatching MONDO:0013417 complement component 3 deficiency skos:exactMatch DOID:8354 complement component 3 deficiency semapv:UnspecifiedMatching MONDO:0013417 complement component 3 deficiency skos:exactMatch MEDGEN:462421 semapv:UnspecifiedMatching MONDO:0013417 complement component 3 deficiency skos:exactMatch NCIT:C9468 C3 Deficiency semapv:UnspecifiedMatching MONDO:0013417 complement component 3 deficiency skos:exactMatch OMIM:613779 complement component 3 deficiency, autosomal recessive semapv:UnspecifiedMatching MONDO:0013417 complement component 3 deficiency skos:exactMatch Orphanet:280133 Complement component 3 deficiency semapv:UnspecifiedMatching MONDO:0013417 complement component 3 deficiency skos:exactMatch UMLS:C3151071 semapv:UnspecifiedMatching MONDO:0013417 complement component 3 deficiency skos:exactMatch mesh:C565169 semapv:UnspecifiedMatching MONDO:0013418 aortic aneurysm, familial thoracic 7 skos:exactMatch MEDGEN:462427 semapv:UnspecifiedMatching MONDO:0013418 aortic aneurysm, familial thoracic 7 skos:exactMatch OMIM:613780 aortic aneurysm, familial thoracic 7 semapv:UnspecifiedMatching MONDO:0013418 aortic aneurysm, familial thoracic 7 skos:exactMatch UMLS:C3151077 semapv:UnspecifiedMatching MONDO:0013419 complement component C1s deficiency skos:exactMatch MEDGEN:462428 semapv:UnspecifiedMatching MONDO:0013419 complement component C1s deficiency skos:exactMatch OMIM:613783 complement component c1s deficiency semapv:UnspecifiedMatching MONDO:0013419 complement component C1s deficiency skos:exactMatch UMLS:C3151078 semapv:UnspecifiedMatching MONDO:0013419 complement component C1s deficiency skos:exactMatch mesh:C565170 semapv:UnspecifiedMatching MONDO:0013420 age related macular degeneration 12 skos:exactMatch DOID:0110024 age related macular degeneration 12 semapv:UnspecifiedMatching MONDO:0013420 age related macular degeneration 12 skos:exactMatch MEDGEN:462429 semapv:UnspecifiedMatching MONDO:0013420 age related macular degeneration 12 skos:exactMatch OMIM:613784 macular degeneration, age-related, 12 semapv:UnspecifiedMatching MONDO:0013420 age related macular degeneration 12 skos:exactMatch UMLS:C3151079 semapv:UnspecifiedMatching MONDO:0013421 type II complement component 8 deficiency skos:exactMatch DOID:0060302 type II complement component 8 deficiency semapv:UnspecifiedMatching MONDO:0013421 type II complement component 8 deficiency skos:exactMatch MEDGEN:462430 semapv:UnspecifiedMatching MONDO:0013421 type II complement component 8 deficiency skos:exactMatch OMIM:613789 complement component 8 deficiency, type 2 semapv:UnspecifiedMatching MONDO:0013421 type II complement component 8 deficiency skos:exactMatch UMLS:C3151080 semapv:UnspecifiedMatching MONDO:0013422 type I complement component 8 deficiency skos:exactMatch DOID:0060301 type I complement component 8 deficiency semapv:UnspecifiedMatching MONDO:0013422 type I complement component 8 deficiency skos:exactMatch MEDGEN:462431 semapv:UnspecifiedMatching MONDO:0013422 type I complement component 8 deficiency skos:exactMatch OMIM:613790 complement component 8 deficiency, type 1 semapv:UnspecifiedMatching MONDO:0013422 type I complement component 8 deficiency skos:exactMatch UMLS:C3151081 semapv:UnspecifiedMatching MONDO:0013423 immunodeficiency due to MASP-2 deficiency skos:exactMatch MEDGEN:462435 semapv:UnspecifiedMatching MONDO:0013423 immunodeficiency due to MASP-2 deficiency skos:exactMatch OMIM:613791 masp2 deficiency semapv:UnspecifiedMatching MONDO:0013423 immunodeficiency due to MASP-2 deficiency skos:exactMatch Orphanet:331187 Immunodeficiency due to MASP-2 deficiency semapv:UnspecifiedMatching MONDO:0013423 immunodeficiency due to MASP-2 deficiency skos:exactMatch UMLS:C3151085 semapv:UnspecifiedMatching MONDO:0013423 immunodeficiency due to MASP-2 deficiency skos:exactMatch mesh:C565360 semapv:UnspecifiedMatching MONDO:0013424 3p- syndrome skos:exactMatch DOID:0060417 3p deletion syndrome semapv:UnspecifiedMatching MONDO:0013424 3p- syndrome skos:exactMatch MEDGEN:1643555 semapv:UnspecifiedMatching MONDO:0013424 3p- syndrome skos:exactMatch OMIM:613792 chromosome 3pter-p25 deletion syndrome semapv:UnspecifiedMatching MONDO:0013424 3p- syndrome skos:exactMatch Orphanet:1620 Distal deletion 3p syndrome semapv:UnspecifiedMatching MONDO:0013424 3p- syndrome skos:exactMatch SCTID:763528002 semapv:UnspecifiedMatching MONDO:0013424 3p- syndrome skos:exactMatch UMLS:C4706503 semapv:UnspecifiedMatching MONDO:0013424 3p- syndrome skos:exactMatch mesh:C536804 semapv:UnspecifiedMatching MONDO:0013425 retinitis pigmentosa 20 skos:exactMatch DOID:0110353 retinitis pigmentosa 20 semapv:UnspecifiedMatching MONDO:0013425 retinitis pigmentosa 20 skos:exactMatch MEDGEN:462436 semapv:UnspecifiedMatching MONDO:0013425 retinitis pigmentosa 20 skos:exactMatch OMIM:613794 retinitis pigmentosa 20 semapv:UnspecifiedMatching MONDO:0013425 retinitis pigmentosa 20 skos:exactMatch UMLS:C3151086 semapv:UnspecifiedMatching MONDO:0013425 retinitis pigmentosa 20 skos:exactMatch mesh:C566718 semapv:UnspecifiedMatching MONDO:0013426 aneurysm-osteoarthritis syndrome skos:exactMatch DOID:0070237 Loeys-Dietz syndrome 3 semapv:UnspecifiedMatching MONDO:0013426 aneurysm-osteoarthritis syndrome skos:exactMatch MEDGEN:462437 semapv:UnspecifiedMatching MONDO:0013426 aneurysm-osteoarthritis syndrome skos:exactMatch OMIM:613795 loeys-dietz syndrome 3 semapv:UnspecifiedMatching MONDO:0013426 aneurysm-osteoarthritis syndrome skos:exactMatch Orphanet:284984 Aneurysm-osteoarthritis syndrome semapv:UnspecifiedMatching MONDO:0013426 aneurysm-osteoarthritis syndrome skos:exactMatch UMLS:C3151087 semapv:UnspecifiedMatching MONDO:0013427 immunodeficiency 31B skos:exactMatch DOID:0111944 immunodeficiency 31B semapv:UnspecifiedMatching MONDO:0013427 immunodeficiency 31B skos:exactMatch MEDGEN:462438 semapv:UnspecifiedMatching MONDO:0013427 immunodeficiency 31B skos:exactMatch OMIM:613796 immunodeficiency 31b semapv:UnspecifiedMatching MONDO:0013427 immunodeficiency 31B skos:exactMatch Orphanet:391311 Susceptibility to viral and mycobacterial infections due to STAT1 deficiency semapv:UnspecifiedMatching MONDO:0013427 immunodeficiency 31B skos:exactMatch UMLS:C3151088 semapv:UnspecifiedMatching MONDO:0013428 Meier-Gorlin syndrome 2 skos:exactMatch DOID:0080513 Meier-Gorlin syndrome 2 semapv:UnspecifiedMatching MONDO:0013428 Meier-Gorlin syndrome 2 skos:exactMatch MEDGEN:462447 semapv:UnspecifiedMatching MONDO:0013428 Meier-Gorlin syndrome 2 skos:exactMatch OMIM:613800 meier-gorlin syndrome 2 semapv:UnspecifiedMatching MONDO:0013428 Meier-Gorlin syndrome 2 skos:exactMatch UMLS:C3151097 semapv:UnspecifiedMatching MONDO:0013429 retinitis pigmentosa 40 skos:exactMatch DOID:0110375 retinitis pigmentosa 40 semapv:UnspecifiedMatching MONDO:0013429 retinitis pigmentosa 40 skos:exactMatch MEDGEN:462457 semapv:UnspecifiedMatching MONDO:0013429 retinitis pigmentosa 40 skos:exactMatch OMIM:613801 retinitis pigmentosa 40 semapv:UnspecifiedMatching MONDO:0013429 retinitis pigmentosa 40 skos:exactMatch UMLS:C3151107 semapv:UnspecifiedMatching MONDO:0013430 Meier-Gorlin syndrome 3 skos:exactMatch DOID:0080514 Meier-Gorlin syndrome 3 semapv:UnspecifiedMatching MONDO:0013430 Meier-Gorlin syndrome 3 skos:exactMatch MEDGEN:462463 semapv:UnspecifiedMatching MONDO:0013430 Meier-Gorlin syndrome 3 skos:exactMatch OMIM:613803 meier-gorlin syndrome 3 semapv:UnspecifiedMatching MONDO:0013430 Meier-Gorlin syndrome 3 skos:exactMatch UMLS:C3151113 semapv:UnspecifiedMatching MONDO:0013431 Meier-Gorlin syndrome 4 skos:exactMatch DOID:0080515 Meier-Gorlin syndrome 4 semapv:UnspecifiedMatching MONDO:0013431 Meier-Gorlin syndrome 4 skos:exactMatch MEDGEN:462470 semapv:UnspecifiedMatching MONDO:0013431 Meier-Gorlin syndrome 4 skos:exactMatch OMIM:613804 meier-gorlin syndrome 4 semapv:UnspecifiedMatching MONDO:0013431 Meier-Gorlin syndrome 4 skos:exactMatch UMLS:C3151120 semapv:UnspecifiedMatching MONDO:0013432 Meier-Gorlin syndrome 5 skos:exactMatch DOID:0080516 Meier-Gorlin syndrome 5 semapv:UnspecifiedMatching MONDO:0013432 Meier-Gorlin syndrome 5 skos:exactMatch MEDGEN:462476 semapv:UnspecifiedMatching MONDO:0013432 Meier-Gorlin syndrome 5 skos:exactMatch OMIM:613805 meier-gorlin syndrome 5 semapv:UnspecifiedMatching MONDO:0013432 Meier-Gorlin syndrome 5 skos:exactMatch UMLS:C3151126 semapv:UnspecifiedMatching MONDO:0013433 primary sclerosing cholangitis skos:exactMatch DOID:0060643 primary sclerosing cholangitis semapv:UnspecifiedMatching MONDO:0013433 primary sclerosing cholangitis skos:exactMatch ICD10CM:K83.01 Primary sclerosing cholangitis semapv:UnspecifiedMatching MONDO:0013433 primary sclerosing cholangitis skos:exactMatch MEDGEN:107565 semapv:UnspecifiedMatching MONDO:0013433 primary sclerosing cholangitis skos:exactMatch OMIM:613806 cholangitis, primary sclerosing semapv:UnspecifiedMatching MONDO:0013433 primary sclerosing cholangitis skos:exactMatch Orphanet:171 Primary sclerosing cholangitis semapv:UnspecifiedMatching MONDO:0013433 primary sclerosing cholangitis skos:exactMatch SCTID:197441003 semapv:UnspecifiedMatching MONDO:0013433 primary sclerosing cholangitis skos:exactMatch UMLS:C0566602 semapv:UnspecifiedMatching MONDO:0013433 primary sclerosing cholangitis skos:exactMatch icd11.foundation:857962451 Primary sclerosing cholangitis semapv:UnspecifiedMatching MONDO:0013434 primary ciliary dyskinesia 14 skos:exactMatch DOID:0110598 primary ciliary dyskinesia 14 semapv:UnspecifiedMatching MONDO:0013434 primary ciliary dyskinesia 14 skos:exactMatch MEDGEN:462486 semapv:UnspecifiedMatching MONDO:0013434 primary ciliary dyskinesia 14 skos:exactMatch NCIT:C148370 Primary Ciliary Dyskinesia 14 semapv:UnspecifiedMatching MONDO:0013434 primary ciliary dyskinesia 14 skos:exactMatch OMIM:613807 ciliary dyskinesia, primary, 14 semapv:UnspecifiedMatching MONDO:0013434 primary ciliary dyskinesia 14 skos:exactMatch UMLS:C3151136 semapv:UnspecifiedMatching MONDO:0013435 primary ciliary dyskinesia 15 skos:exactMatch DOID:0110623 primary ciliary dyskinesia 15 semapv:UnspecifiedMatching MONDO:0013435 primary ciliary dyskinesia 15 skos:exactMatch MEDGEN:462487 semapv:UnspecifiedMatching MONDO:0013435 primary ciliary dyskinesia 15 skos:exactMatch NCIT:C155999 Primary Ciliary Dyskinesia 15 semapv:UnspecifiedMatching MONDO:0013435 primary ciliary dyskinesia 15 skos:exactMatch OMIM:613808 ciliary dyskinesia, primary, 15 semapv:UnspecifiedMatching MONDO:0013435 primary ciliary dyskinesia 15 skos:exactMatch UMLS:C3151137 semapv:UnspecifiedMatching MONDO:0013436 retinitis pigmentosa 39 skos:exactMatch DOID:0110360 retinitis pigmentosa 39 semapv:UnspecifiedMatching MONDO:0013436 retinitis pigmentosa 39 skos:exactMatch MEDGEN:462488 semapv:UnspecifiedMatching MONDO:0013436 retinitis pigmentosa 39 skos:exactMatch OMIM:613809 retinitis pigmentosa 39 semapv:UnspecifiedMatching MONDO:0013436 retinitis pigmentosa 39 skos:exactMatch UMLS:C3151138 semapv:UnspecifiedMatching MONDO:0013437 retinitis pigmentosa 43 skos:exactMatch DOID:0110379 retinitis pigmentosa 43 semapv:UnspecifiedMatching MONDO:0013437 retinitis pigmentosa 43 skos:exactMatch MEDGEN:462489 semapv:UnspecifiedMatching MONDO:0013437 retinitis pigmentosa 43 skos:exactMatch OMIM:613810 retinitis pigmentosa 43 semapv:UnspecifiedMatching MONDO:0013437 retinitis pigmentosa 43 skos:exactMatch UMLS:C3151139 semapv:UnspecifiedMatching MONDO:0013438 pontocerebellar hypoplasia type 2D skos:exactMatch DOID:0060270 pontocerebellar hypoplasia type 2D semapv:UnspecifiedMatching MONDO:0013438 pontocerebellar hypoplasia type 2D skos:exactMatch MEDGEN:462490 semapv:UnspecifiedMatching MONDO:0013438 pontocerebellar hypoplasia type 2D skos:exactMatch OMIM:613811 pontocerebellar hypoplasia, type 2d semapv:UnspecifiedMatching MONDO:0013438 pontocerebellar hypoplasia type 2D skos:exactMatch UMLS:C3151140 semapv:UnspecifiedMatching MONDO:0013439 congenital bile acid synthesis defect 3 skos:exactMatch DOID:0111070 congenital bile acid synthesis defect 3 semapv:UnspecifiedMatching MONDO:0013439 congenital bile acid synthesis defect 3 skos:exactMatch MEDGEN:462497 semapv:UnspecifiedMatching MONDO:0013439 congenital bile acid synthesis defect 3 skos:exactMatch OMIM:613812 bile acid synthesis defect, congenital, 3 semapv:UnspecifiedMatching MONDO:0013439 congenital bile acid synthesis defect 3 skos:exactMatch Orphanet:79302 Congenital bile acid synthesis defect type 3 semapv:UnspecifiedMatching MONDO:0013439 congenital bile acid synthesis defect 3 skos:exactMatch SCTID:719454003 semapv:UnspecifiedMatching MONDO:0013439 congenital bile acid synthesis defect 3 skos:exactMatch UMLS:C3151147 semapv:UnspecifiedMatching MONDO:0013439 congenital bile acid synthesis defect 3 skos:exactMatch mesh:C566340 semapv:UnspecifiedMatching MONDO:0013440 autosomal recessive limb-girdle muscular dystrophy type 2P skos:exactMatch DOID:0110293 autosomal recessive limb-girdle muscular dystrophy type 2P semapv:UnspecifiedMatching MONDO:0013440 autosomal recessive limb-girdle muscular dystrophy type 2P skos:exactMatch MEDGEN:1386785 semapv:UnspecifiedMatching MONDO:0013440 autosomal recessive limb-girdle muscular dystrophy type 2P skos:exactMatch OMIM:613818 muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 9 semapv:UnspecifiedMatching MONDO:0013440 autosomal recessive limb-girdle muscular dystrophy type 2P skos:exactMatch Orphanet:280333 Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 semapv:UnspecifiedMatching MONDO:0013440 autosomal recessive limb-girdle muscular dystrophy type 2P skos:exactMatch UMLS:C4511963 semapv:UnspecifiedMatching MONDO:0013441 asphyxiating thoracic dystrophy 4 skos:exactMatch DOID:0110088 asphyxiating thoracic dystrophy 4 semapv:UnspecifiedMatching MONDO:0013441 asphyxiating thoracic dystrophy 4 skos:exactMatch MEDGEN:462535 semapv:UnspecifiedMatching MONDO:0013441 asphyxiating thoracic dystrophy 4 skos:exactMatch OMIM:613819 short-rib thoracic dysplasia 4 with or without polydactyly semapv:UnspecifiedMatching MONDO:0013441 asphyxiating thoracic dystrophy 4 skos:exactMatch UMLS:C3151185 semapv:UnspecifiedMatching MONDO:0013442 nephronophthisis 12 skos:exactMatch DOID:0111119 nephronophthisis 12 semapv:UnspecifiedMatching MONDO:0013442 nephronophthisis 12 skos:exactMatch MEDGEN:462536 semapv:UnspecifiedMatching MONDO:0013442 nephronophthisis 12 skos:exactMatch OMIM:613820 nephronophthisis 12 semapv:UnspecifiedMatching MONDO:0013442 nephronophthisis 12 skos:exactMatch UMLS:C3151186 semapv:UnspecifiedMatching MONDO:0013443 Seckel syndrome 5 skos:exactMatch DOID:0070012 Seckel syndrome 5 semapv:UnspecifiedMatching MONDO:0013443 Seckel syndrome 5 skos:exactMatch MEDGEN:462537 semapv:UnspecifiedMatching MONDO:0013443 Seckel syndrome 5 skos:exactMatch OMIM:613823 seckel syndrome 5 semapv:UnspecifiedMatching MONDO:0013443 Seckel syndrome 5 skos:exactMatch UMLS:C3151187 semapv:UnspecifiedMatching MONDO:0013444 nephronophthisis 9 skos:exactMatch DOID:0111120 nephronophthisis 9 semapv:UnspecifiedMatching MONDO:0013444 nephronophthisis 9 skos:exactMatch MEDGEN:462538 semapv:UnspecifiedMatching MONDO:0013444 nephronophthisis 9 skos:exactMatch OMIM:613824 nephronophthisis 9 semapv:UnspecifiedMatching MONDO:0013444 nephronophthisis 9 skos:exactMatch UMLS:C3151188 semapv:UnspecifiedMatching MONDO:0013445 complement component 9 deficiency skos:exactMatch DOID:0060303 complement component 9 deficiency semapv:UnspecifiedMatching MONDO:0013445 complement component 9 deficiency skos:exactMatch MEDGEN:462539 semapv:UnspecifiedMatching MONDO:0013445 complement component 9 deficiency skos:exactMatch OMIM:613825 complement component 9 deficiency semapv:UnspecifiedMatching MONDO:0013445 complement component 9 deficiency skos:exactMatch UMLS:C3151189 semapv:UnspecifiedMatching MONDO:0013445 complement component 9 deficiency skos:exactMatch mesh:C565165 semapv:UnspecifiedMatching MONDO:0013446 Leber congenital amaurosis 6 skos:exactMatch DOID:0110329 Leber congenital amaurosis 6 semapv:UnspecifiedMatching MONDO:0013446 Leber congenital amaurosis 6 skos:exactMatch MEDGEN:344245 semapv:UnspecifiedMatching MONDO:0013446 Leber congenital amaurosis 6 skos:exactMatch OMIM:613826 leber congenital amaurosis 6 semapv:UnspecifiedMatching MONDO:0013446 Leber congenital amaurosis 6 skos:exactMatch UMLS:C1854260 semapv:UnspecifiedMatching MONDO:0013446 Leber congenital amaurosis 6 skos:exactMatch mesh:C565327 semapv:UnspecifiedMatching MONDO:0013447 retinitis pigmentosa 48 skos:exactMatch DOID:0110382 retinitis pigmentosa 48 semapv:UnspecifiedMatching MONDO:0013447 retinitis pigmentosa 48 skos:exactMatch MEDGEN:462540 semapv:UnspecifiedMatching MONDO:0013447 retinitis pigmentosa 48 skos:exactMatch OMIM:613827 retinitis pigmentosa 48 semapv:UnspecifiedMatching MONDO:0013447 retinitis pigmentosa 48 skos:exactMatch UMLS:C3151190 semapv:UnspecifiedMatching MONDO:0013448 generalized epilepsy with febrile seizures plus, type 8 skos:exactMatch DOID:0111299 generalized epilepsy with febrile seizures plus 8 semapv:UnspecifiedMatching MONDO:0013448 generalized epilepsy with febrile seizures plus, type 8 skos:exactMatch MEDGEN:462541 semapv:UnspecifiedMatching MONDO:0013448 generalized epilepsy with febrile seizures plus, type 8 skos:exactMatch OMIM:613828 generalized epilepsy with febrile seizures plus, type 8 semapv:UnspecifiedMatching MONDO:0013448 generalized epilepsy with febrile seizures plus, type 8 skos:exactMatch UMLS:C3151191 semapv:UnspecifiedMatching MONDO:0013449 Leber congenital amaurosis 7 skos:exactMatch DOID:0110333 Leber congenital amaurosis 7 semapv:UnspecifiedMatching MONDO:0013449 Leber congenital amaurosis 7 skos:exactMatch MEDGEN:462542 semapv:UnspecifiedMatching MONDO:0013449 Leber congenital amaurosis 7 skos:exactMatch OMIM:613829 leber congenital amaurosis 7 semapv:UnspecifiedMatching MONDO:0013449 Leber congenital amaurosis 7 skos:exactMatch UMLS:C3151192 semapv:UnspecifiedMatching MONDO:0013450 congenital stationary night blindness 1D skos:exactMatch DOID:0110868 congenital stationary night blindness 1D semapv:UnspecifiedMatching MONDO:0013450 congenital stationary night blindness 1D skos:exactMatch MEDGEN:462543 semapv:UnspecifiedMatching MONDO:0013450 congenital stationary night blindness 1D skos:exactMatch OMIM:613830 night blindness, congenital stationary, type 1d semapv:UnspecifiedMatching MONDO:0013450 congenital stationary night blindness 1D skos:exactMatch UMLS:C3151193 semapv:UnspecifiedMatching MONDO:0013452 multisystemic smooth muscle dysfunction syndrome skos:exactMatch MEDGEN:462551 semapv:UnspecifiedMatching MONDO:0013452 multisystemic smooth muscle dysfunction syndrome skos:exactMatch OMIM:613834 smooth muscle dysfunction syndrome semapv:UnspecifiedMatching MONDO:0013452 multisystemic smooth muscle dysfunction syndrome skos:exactMatch Orphanet:404463 Multisystemic smooth muscle dysfunction syndrome semapv:UnspecifiedMatching MONDO:0013452 multisystemic smooth muscle dysfunction syndrome skos:exactMatch UMLS:C3151201 semapv:UnspecifiedMatching MONDO:0013453 Leber congenital amaurosis 8 skos:exactMatch DOID:0110079 Leber congenital amaurosis 8 semapv:UnspecifiedMatching MONDO:0013453 Leber congenital amaurosis 8 skos:exactMatch MEDGEN:462552 semapv:UnspecifiedMatching MONDO:0013453 Leber congenital amaurosis 8 skos:exactMatch OMIM:613835 leber congenital amaurosis 8 semapv:UnspecifiedMatching MONDO:0013453 Leber congenital amaurosis 8 skos:exactMatch UMLS:C3151202 semapv:UnspecifiedMatching MONDO:0013454 Leber congenital amaurosis 11 skos:exactMatch DOID:0110216 Leber congenital amaurosis 11 semapv:UnspecifiedMatching MONDO:0013454 Leber congenital amaurosis 11 skos:exactMatch MEDGEN:326698 semapv:UnspecifiedMatching MONDO:0013454 Leber congenital amaurosis 11 skos:exactMatch OMIM:613837 leber congenital amaurosis 11 semapv:UnspecifiedMatching MONDO:0013454 Leber congenital amaurosis 11 skos:exactMatch UMLS:C1840284 semapv:UnspecifiedMatching MONDO:0013454 Leber congenital amaurosis 11 skos:exactMatch mesh:C564140 semapv:UnspecifiedMatching MONDO:0013455 hypertrophic cardiomyopathy 16 skos:exactMatch DOID:0110322 hypertrophic cardiomyopathy 16 semapv:UnspecifiedMatching MONDO:0013455 hypertrophic cardiomyopathy 16 skos:exactMatch MEDGEN:462554 semapv:UnspecifiedMatching MONDO:0013455 hypertrophic cardiomyopathy 16 skos:exactMatch OMIM:613838 cardiomyopathy, familial hypertrophic, 16 semapv:UnspecifiedMatching MONDO:0013455 hypertrophic cardiomyopathy 16 skos:exactMatch UMLS:C3151204 semapv:UnspecifiedMatching MONDO:0013456 constitutional megaloblastic anemia with severe neurologic disease skos:exactMatch MEDGEN:462555 semapv:UnspecifiedMatching MONDO:0013456 constitutional megaloblastic anemia with severe neurologic disease skos:exactMatch OMIM:613839 megaloblastic anemia due to dihydrofolate reductase deficiency semapv:UnspecifiedMatching MONDO:0013456 constitutional megaloblastic anemia with severe neurologic disease skos:exactMatch Orphanet:319651 Constitutional megaloblastic anemia with severe neurologic disease semapv:UnspecifiedMatching MONDO:0013456 constitutional megaloblastic anemia with severe neurologic disease skos:exactMatch SCTID:124178006 semapv:UnspecifiedMatching MONDO:0013456 constitutional megaloblastic anemia with severe neurologic disease skos:exactMatch UMLS:C3151205 semapv:UnspecifiedMatching MONDO:0013456 constitutional megaloblastic anemia with severe neurologic disease skos:exactMatch mesh:C565095 semapv:UnspecifiedMatching MONDO:0013457 Leber congenital amaurosis 15 skos:exactMatch DOID:0110189 Leber congenital amaurosis 15 semapv:UnspecifiedMatching MONDO:0013457 Leber congenital amaurosis 15 skos:exactMatch MEDGEN:462556 semapv:UnspecifiedMatching MONDO:0013457 Leber congenital amaurosis 15 skos:exactMatch OMIM:613843 leber congenital amaurosis 15 semapv:UnspecifiedMatching MONDO:0013457 Leber congenital amaurosis 15 skos:exactMatch UMLS:C3151206 semapv:UnspecifiedMatching MONDO:0013458 hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome skos:exactMatch MEDGEN:462559 semapv:UnspecifiedMatching MONDO:0013458 hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome skos:exactMatch OMIM:613845 hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome semapv:UnspecifiedMatching MONDO:0013458 hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome skos:exactMatch Orphanet:363694 Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome semapv:UnspecifiedMatching MONDO:0013458 hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome skos:exactMatch UMLS:C3151209 semapv:UnspecifiedMatching MONDO:0013459 osteogenesis imperfecta type 10 skos:exactMatch DOID:0110346 osteogenesis imperfecta type 10 semapv:UnspecifiedMatching MONDO:0013459 osteogenesis imperfecta type 10 skos:exactMatch MEDGEN:462561 semapv:UnspecifiedMatching MONDO:0013459 osteogenesis imperfecta type 10 skos:exactMatch OMIM:613848 osteogenesis imperfecta, type 10 semapv:UnspecifiedMatching MONDO:0013459 osteogenesis imperfecta type 10 skos:exactMatch UMLS:C3151211 semapv:UnspecifiedMatching MONDO:0013460 osteogenesis imperfecta type 12 skos:exactMatch DOID:0110348 osteogenesis imperfecta type 12 semapv:UnspecifiedMatching MONDO:0013460 osteogenesis imperfecta type 12 skos:exactMatch MEDGEN:462783 semapv:UnspecifiedMatching MONDO:0013460 osteogenesis imperfecta type 12 skos:exactMatch OMIM:613849 osteogenesis imperfecta, type 12 semapv:UnspecifiedMatching MONDO:0013460 osteogenesis imperfecta type 12 skos:exactMatch UMLS:C3151433 semapv:UnspecifiedMatching MONDO:0013461 inosine triphosphatase deficiency skos:exactMatch MEDGEN:452450 semapv:UnspecifiedMatching MONDO:0013461 inosine triphosphatase deficiency skos:exactMatch NCIT:C129974 Inosine Triphosphatase Deficiency semapv:UnspecifiedMatching MONDO:0013461 inosine triphosphatase deficiency skos:exactMatch OMIM:613850 inosine triphosphatase deficiency semapv:UnspecifiedMatching MONDO:0013461 inosine triphosphatase deficiency skos:exactMatch SCTID:238011005 semapv:UnspecifiedMatching MONDO:0013461 inosine triphosphatase deficiency skos:exactMatch UMLS:C0342800 semapv:UnspecifiedMatching MONDO:0013461 inosine triphosphatase deficiency skos:exactMatch mesh:C564127 semapv:UnspecifiedMatching MONDO:0013462 fucosyltransferase 6 deficiency skos:exactMatch MEDGEN:462569 semapv:UnspecifiedMatching MONDO:0013462 fucosyltransferase 6 deficiency skos:exactMatch OMIM:613852 fucosyltransferase 6 deficiency semapv:UnspecifiedMatching MONDO:0013462 fucosyltransferase 6 deficiency skos:exactMatch UMLS:C3151219 semapv:UnspecifiedMatching MONDO:0013463 congenital heart defects, multiple types, 6 skos:exactMatch DOID:0060772 multiple types of congenital heart defects 6 semapv:UnspecifiedMatching MONDO:0013463 congenital heart defects, multiple types, 6 skos:exactMatch MEDGEN:462571 semapv:UnspecifiedMatching MONDO:0013463 congenital heart defects, multiple types, 6 skos:exactMatch OMIM:613854 congenital heart defects, multiple types, 6 semapv:UnspecifiedMatching MONDO:0013463 congenital heart defects, multiple types, 6 skos:exactMatch UMLS:C3151221 semapv:UnspecifiedMatching MONDO:0013464 episodic ataxia type 5 skos:exactMatch DOID:0050993 episodic ataxia type 5 semapv:UnspecifiedMatching MONDO:0013464 episodic ataxia type 5 skos:exactMatch MEDGEN:356142 semapv:UnspecifiedMatching MONDO:0013464 episodic ataxia type 5 skos:exactMatch OMIM:613855 episodic ataxia, type 5 semapv:UnspecifiedMatching MONDO:0013464 episodic ataxia type 5 skos:exactMatch Orphanet:211067 Episodic ataxia type 5 semapv:UnspecifiedMatching MONDO:0013464 episodic ataxia type 5 skos:exactMatch SCTID:718756005 semapv:UnspecifiedMatching MONDO:0013464 episodic ataxia type 5 skos:exactMatch UMLS:C1866039 semapv:UnspecifiedMatching MONDO:0013464 episodic ataxia type 5 skos:exactMatch mesh:C566601 semapv:UnspecifiedMatching MONDO:0013465 achromatopsia 4 skos:exactMatch DOID:0110010 achromatopsia 4 semapv:UnspecifiedMatching MONDO:0013465 achromatopsia 4 skos:exactMatch MEDGEN:330669 semapv:UnspecifiedMatching MONDO:0013465 achromatopsia 4 skos:exactMatch OMIM:613856 achromatopsia 4 semapv:UnspecifiedMatching MONDO:0013465 achromatopsia 4 skos:exactMatch UMLS:C1841721 semapv:UnspecifiedMatching MONDO:0013465 achromatopsia 4 skos:exactMatch mesh:C564206 semapv:UnspecifiedMatching MONDO:0013466 orofacial cleft 13 skos:exactMatch DOID:0080406 orofacial cleft 13 semapv:UnspecifiedMatching MONDO:0013466 orofacial cleft 13 skos:exactMatch MEDGEN:462572 semapv:UnspecifiedMatching MONDO:0013466 orofacial cleft 13 skos:exactMatch OMIM:613857 orofacial cleft 13 semapv:UnspecifiedMatching MONDO:0013466 orofacial cleft 13 skos:exactMatch UMLS:C3151222 semapv:UnspecifiedMatching MONDO:0013467 immunodeficiency due to ficolin3 deficiency skos:exactMatch MEDGEN:462576 semapv:UnspecifiedMatching MONDO:0013467 immunodeficiency due to ficolin3 deficiency skos:exactMatch OMIM:613860 ficolin 3 deficiency semapv:UnspecifiedMatching MONDO:0013467 immunodeficiency due to ficolin3 deficiency skos:exactMatch Orphanet:331190 Immunodeficiency due to ficolin3 deficiency semapv:UnspecifiedMatching MONDO:0013467 immunodeficiency due to ficolin3 deficiency skos:exactMatch SCTID:766705006 semapv:UnspecifiedMatching MONDO:0013467 immunodeficiency due to ficolin3 deficiency skos:exactMatch UMLS:C3151226 semapv:UnspecifiedMatching MONDO:0013468 retinitis pigmentosa 59 skos:exactMatch DOID:0110352 retinitis pigmentosa 59 semapv:UnspecifiedMatching MONDO:0013468 retinitis pigmentosa 59 skos:exactMatch MEDGEN:462577 semapv:UnspecifiedMatching MONDO:0013468 retinitis pigmentosa 59 skos:exactMatch OMIM:613861 retinitis pigmentosa 59 semapv:UnspecifiedMatching MONDO:0013468 retinitis pigmentosa 59 skos:exactMatch UMLS:C3151227 semapv:UnspecifiedMatching MONDO:0013469 retinitis pigmentosa 38 skos:exactMatch DOID:0110367 retinitis pigmentosa 38 semapv:UnspecifiedMatching MONDO:0013469 retinitis pigmentosa 38 skos:exactMatch MEDGEN:462578 semapv:UnspecifiedMatching MONDO:0013469 retinitis pigmentosa 38 skos:exactMatch OMIM:613862 retinitis pigmentosa 38 semapv:UnspecifiedMatching MONDO:0013469 retinitis pigmentosa 38 skos:exactMatch UMLS:C3151228 semapv:UnspecifiedMatching MONDO:0013470 generalized epilepsy with febrile seizures plus, type 7 skos:exactMatch DOID:0111295 generalized epilepsy with febrile seizures plus 7 semapv:UnspecifiedMatching MONDO:0013470 generalized epilepsy with febrile seizures plus, type 7 skos:exactMatch MEDGEN:416630 semapv:UnspecifiedMatching MONDO:0013470 generalized epilepsy with febrile seizures plus, type 7 skos:exactMatch OMIM:613863 generalized epilepsy with febrile seizures plus, type 7 semapv:UnspecifiedMatching MONDO:0013470 generalized epilepsy with febrile seizures plus, type 7 skos:exactMatch UMLS:C2751778 semapv:UnspecifiedMatching MONDO:0013470 generalized epilepsy with febrile seizures plus, type 7 skos:exactMatch mesh:C567827 semapv:UnspecifiedMatching MONDO:0013471 autosomal recessive nonsyndromic hearing loss 61 skos:exactMatch DOID:0110513 autosomal recessive nonsyndromic deafness 61 semapv:UnspecifiedMatching MONDO:0013471 autosomal recessive nonsyndromic hearing loss 61 skos:exactMatch MEDGEN:462580 semapv:UnspecifiedMatching MONDO:0013471 autosomal recessive nonsyndromic hearing loss 61 skos:exactMatch OMIM:613865 deafness, autosomal recessive 61 semapv:UnspecifiedMatching MONDO:0013471 autosomal recessive nonsyndromic hearing loss 61 skos:exactMatch UMLS:C3151230 semapv:UnspecifiedMatching MONDO:0013472 fatal infantile hypertonic myofibrillar myopathy skos:exactMatch DOID:0080309 infantile-onset myofibrillar myopathy-2B semapv:UnspecifiedMatching MONDO:0013472 fatal infantile hypertonic myofibrillar myopathy skos:exactMatch MEDGEN:1684001 semapv:UnspecifiedMatching MONDO:0013472 fatal infantile hypertonic myofibrillar myopathy skos:exactMatch OMIM:613869 myopathy, myofibrillar, 2b, infantile-onset semapv:UnspecifiedMatching MONDO:0013472 fatal infantile hypertonic myofibrillar myopathy skos:exactMatch Orphanet:280553 Fatal infantile hypertonic myofibrillar myopathy semapv:UnspecifiedMatching MONDO:0013472 fatal infantile hypertonic myofibrillar myopathy skos:exactMatch UMLS:C5190691 semapv:UnspecifiedMatching MONDO:0013473 Hirschsprung disease, cardiac defects, and autonomic dysfunction skos:exactMatch MEDGEN:462587 semapv:UnspecifiedMatching MONDO:0013473 Hirschsprung disease, cardiac defects, and autonomic dysfunction skos:exactMatch OMIM:613870 hirschsprung disease, cardiac defects, and autonomic dysfunction semapv:UnspecifiedMatching MONDO:0013473 Hirschsprung disease, cardiac defects, and autonomic dysfunction skos:exactMatch UMLS:C3151237 semapv:UnspecifiedMatching MONDO:0013473 Hirschsprung disease, cardiac defects, and autonomic dysfunction skos:exactMatch mesh:C563939 semapv:UnspecifiedMatching MONDO:0013474 hypertrophic cardiomyopathy 17 skos:exactMatch DOID:0110323 hypertrophic cardiomyopathy 17 semapv:UnspecifiedMatching MONDO:0013474 hypertrophic cardiomyopathy 17 skos:exactMatch MEDGEN:462614 semapv:UnspecifiedMatching MONDO:0013474 hypertrophic cardiomyopathy 17 skos:exactMatch OMIM:613873 cardiomyopathy, familial hypertrophic, 17 semapv:UnspecifiedMatching MONDO:0013474 hypertrophic cardiomyopathy 17 skos:exactMatch UMLS:C3151264 semapv:UnspecifiedMatching MONDO:0013475 hypertrophic cardiomyopathy 18 skos:exactMatch DOID:0110324 hypertrophic cardiomyopathy 18 semapv:UnspecifiedMatching MONDO:0013475 hypertrophic cardiomyopathy 18 skos:exactMatch MEDGEN:462615 semapv:UnspecifiedMatching MONDO:0013475 hypertrophic cardiomyopathy 18 skos:exactMatch OMIM:613874 cardiomyopathy, familial hypertrophic, 18 semapv:UnspecifiedMatching MONDO:0013475 hypertrophic cardiomyopathy 18 skos:exactMatch UMLS:C3151265 semapv:UnspecifiedMatching MONDO:0013477 hypertrophic cardiomyopathy 20 skos:exactMatch DOID:0110326 hypertrophic cardiomyopathy 20 semapv:UnspecifiedMatching MONDO:0013477 hypertrophic cardiomyopathy 20 skos:exactMatch MEDGEN:462617 semapv:UnspecifiedMatching MONDO:0013477 hypertrophic cardiomyopathy 20 skos:exactMatch OMIM:613876 cardiomyopathy, familial hypertrophic, 20 semapv:UnspecifiedMatching MONDO:0013477 hypertrophic cardiomyopathy 20 skos:exactMatch UMLS:C3151267 semapv:UnspecifiedMatching MONDO:0013478 PLIN1-related familial partial lipodystrophy skos:exactMatch DOID:0070205 familial partial lipodystrophy type 4 semapv:UnspecifiedMatching MONDO:0013478 PLIN1-related familial partial lipodystrophy skos:exactMatch MEDGEN:1675945 semapv:UnspecifiedMatching MONDO:0013478 PLIN1-related familial partial lipodystrophy skos:exactMatch OMIM:613877 lipodystrophy, familial partial, type 4 semapv:UnspecifiedMatching MONDO:0013478 PLIN1-related familial partial lipodystrophy skos:exactMatch Orphanet:280356 PLIN1-related familial partial lipodystrophy semapv:UnspecifiedMatching MONDO:0013478 PLIN1-related familial partial lipodystrophy skos:exactMatch UMLS:C5191005 semapv:UnspecifiedMatching MONDO:0013479 dilated cardiomyopathy 1HH skos:exactMatch DOID:0110448 dilated cardiomyopathy 1HH semapv:UnspecifiedMatching MONDO:0013479 dilated cardiomyopathy 1HH skos:exactMatch MEDGEN:462643 semapv:UnspecifiedMatching MONDO:0013479 dilated cardiomyopathy 1HH skos:exactMatch OMIM:613881 cardiomyopathy, dilated, 1hh semapv:UnspecifiedMatching MONDO:0013479 dilated cardiomyopathy 1HH skos:exactMatch UMLS:C3151293 semapv:UnspecifiedMatching MONDO:0013480 renal hypomagnesemia 6 skos:exactMatch DOID:0060884 renal hypomagnesemia 6 semapv:UnspecifiedMatching MONDO:0013480 renal hypomagnesemia 6 skos:exactMatch MEDGEN:462645 semapv:UnspecifiedMatching MONDO:0013480 renal hypomagnesemia 6 skos:exactMatch OMIM:613882 hypomagnesemia 6, renal semapv:UnspecifiedMatching MONDO:0013480 renal hypomagnesemia 6 skos:exactMatch UMLS:C3151295 semapv:UnspecifiedMatching MONDO:0013481 chromosome 13q14 deletion syndrome skos:exactMatch DOID:0060391 chromosome 13q14 deletion syndrome semapv:UnspecifiedMatching MONDO:0013481 chromosome 13q14 deletion syndrome skos:exactMatch MEDGEN:462652 semapv:UnspecifiedMatching MONDO:0013481 chromosome 13q14 deletion syndrome skos:exactMatch NCIT:C36421 del(13q14) semapv:UnspecifiedMatching MONDO:0013481 chromosome 13q14 deletion syndrome skos:exactMatch OMIM:613884 chromosome 13q14 deletion syndrome semapv:UnspecifiedMatching MONDO:0013481 chromosome 13q14 deletion syndrome skos:exactMatch Orphanet:1587 Monosomy 13q14 syndrome semapv:UnspecifiedMatching MONDO:0013481 chromosome 13q14 deletion syndrome skos:exactMatch UMLS:C3151302 semapv:UnspecifiedMatching MONDO:0013482 Meckel syndrome, type 8 skos:exactMatch DOID:0070122 Meckel syndrome 8 semapv:UnspecifiedMatching MONDO:0013482 Meckel syndrome, type 8 skos:exactMatch MEDGEN:854220 semapv:UnspecifiedMatching MONDO:0013482 Meckel syndrome, type 8 skos:exactMatch OMIM:613885 meckel syndrome, type 8 semapv:UnspecifiedMatching MONDO:0013482 Meckel syndrome, type 8 skos:exactMatch UMLS:C3836857 semapv:UnspecifiedMatching MONDO:0013483 obesity, hyperphagia, and developmental delay skos:exactMatch MEDGEN:462653 semapv:UnspecifiedMatching MONDO:0013483 obesity, hyperphagia, and developmental delay skos:exactMatch OMIM:613886 obesity, hyperphagia, and developmental delay semapv:UnspecifiedMatching MONDO:0013483 obesity, hyperphagia, and developmental delay skos:exactMatch UMLS:C3151303 semapv:UnspecifiedMatching MONDO:0013483 obesity, hyperphagia, and developmental delay skos:exactMatch mesh:C563938 semapv:UnspecifiedMatching MONDO:0013484 cataract 36 skos:exactMatch DOID:0110247 cataract 36 semapv:UnspecifiedMatching MONDO:0013484 cataract 36 skos:exactMatch MEDGEN:462654 semapv:UnspecifiedMatching MONDO:0013484 cataract 36 skos:exactMatch OMIM:613887 cataract 36 semapv:UnspecifiedMatching MONDO:0013484 cataract 36 skos:exactMatch UMLS:C3151304 semapv:UnspecifiedMatching MONDO:0013485 spinocerebellar ataxia type 35 skos:exactMatch DOID:0050982 spinocerebellar ataxia 35 semapv:UnspecifiedMatching MONDO:0013485 spinocerebellar ataxia type 35 skos:exactMatch MEDGEN:854733 semapv:UnspecifiedMatching MONDO:0013485 spinocerebellar ataxia type 35 skos:exactMatch OMIM:613908 spinocerebellar ataxia 35 semapv:UnspecifiedMatching MONDO:0013485 spinocerebellar ataxia type 35 skos:exactMatch Orphanet:276193 Spinocerebellar ataxia type 35 semapv:UnspecifiedMatching MONDO:0013485 spinocerebellar ataxia type 35 skos:exactMatch SCTID:719300001 semapv:UnspecifiedMatching MONDO:0013485 spinocerebellar ataxia type 35 skos:exactMatch UMLS:C3888031 semapv:UnspecifiedMatching MONDO:0013485 spinocerebellar ataxia type 35 skos:exactMatch icd11.foundation:1674449075 Spinocerebellar ataxia type 35 semapv:UnspecifiedMatching MONDO:0013486 spinocerebellar ataxia type 32 skos:exactMatch MEDGEN:462693 semapv:UnspecifiedMatching MONDO:0013486 spinocerebellar ataxia type 32 skos:exactMatch OMIM:613909 spinocerebellar ataxia 32 semapv:UnspecifiedMatching MONDO:0013486 spinocerebellar ataxia type 32 skos:exactMatch Orphanet:276183 Spinocerebellar ataxia type 32 semapv:UnspecifiedMatching MONDO:0013486 spinocerebellar ataxia type 32 skos:exactMatch SCTID:719254001 semapv:UnspecifiedMatching MONDO:0013486 spinocerebellar ataxia type 32 skos:exactMatch UMLS:C3151343 semapv:UnspecifiedMatching MONDO:0013486 spinocerebellar ataxia type 32 skos:exactMatch icd11.foundation:1372046516 Spinocerebellar ataxia type 32 semapv:UnspecifiedMatching MONDO:0013487 recurrent Neisseria infections due to factor D deficiency skos:exactMatch MEDGEN:97989 semapv:UnspecifiedMatching MONDO:0013487 recurrent Neisseria infections due to factor D deficiency skos:exactMatch OMIM:613912 complement factor d deficiency semapv:UnspecifiedMatching MONDO:0013487 recurrent Neisseria infections due to factor D deficiency skos:exactMatch Orphanet:169467 Recurrent Neisseria infections due to factor D deficiency semapv:UnspecifiedMatching MONDO:0013487 recurrent Neisseria infections due to factor D deficiency skos:exactMatch SCTID:234607008 semapv:UnspecifiedMatching MONDO:0013487 recurrent Neisseria infections due to factor D deficiency skos:exactMatch UMLS:C0398764 semapv:UnspecifiedMatching MONDO:0013487 recurrent Neisseria infections due to factor D deficiency skos:exactMatch icd11.foundation:528757185 Recurrent Neisseria infections due to factor D deficiency semapv:UnspecifiedMatching MONDO:0013487 recurrent Neisseria infections due to factor D deficiency skos:exactMatch mesh:C565027 semapv:UnspecifiedMatching MONDO:0013488 lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis skos:exactMatch MEDGEN:462697 semapv:UnspecifiedMatching MONDO:0013488 lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis skos:exactMatch OMIM:613913 lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis semapv:UnspecifiedMatching MONDO:0013488 lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis skos:exactMatch UMLS:C3151347 semapv:UnspecifiedMatching MONDO:0013489 autosomal recessive nonsyndromic hearing loss 89 skos:exactMatch DOID:0110534 autosomal recessive nonsyndromic deafness 89 semapv:UnspecifiedMatching MONDO:0013489 autosomal recessive nonsyndromic hearing loss 89 skos:exactMatch MEDGEN:462701 semapv:UnspecifiedMatching MONDO:0013489 autosomal recessive nonsyndromic hearing loss 89 skos:exactMatch OMIM:613916 deafness, autosomal recessive 89 semapv:UnspecifiedMatching MONDO:0013489 autosomal recessive nonsyndromic hearing loss 89 skos:exactMatch UMLS:C3151351 semapv:UnspecifiedMatching MONDO:0013490 megalencephalic leukoencephalopathy with subcortical cysts 2A skos:exactMatch DOID:0080318 megalencephalic leukoencephalopathy with subcortical cysts 2A semapv:UnspecifiedMatching MONDO:0013490 megalencephalic leukoencephalopathy with subcortical cysts 2A skos:exactMatch MEDGEN:462705 semapv:UnspecifiedMatching MONDO:0013490 megalencephalic leukoencephalopathy with subcortical cysts 2A skos:exactMatch OMIM:613925 megalencephalic leukoencephalopathy with subcortical cysts 2a semapv:UnspecifiedMatching MONDO:0013490 megalencephalic leukoencephalopathy with subcortical cysts 2A skos:exactMatch UMLS:C3151355 semapv:UnspecifiedMatching MONDO:0013491 megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability skos:exactMatch DOID:0080317 megalencephalic leukoencephalopathy with subcortical cysts 2B semapv:UnspecifiedMatching MONDO:0013491 megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability skos:exactMatch MEDGEN:462706 semapv:UnspecifiedMatching MONDO:0013491 megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability skos:exactMatch OMIM:613926 megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without impaired intellectual development semapv:UnspecifiedMatching MONDO:0013491 megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability skos:exactMatch UMLS:C3151356 semapv:UnspecifiedMatching MONDO:0013492 alopecia-intellectual disability syndrome 3 skos:exactMatch DOID:0080951 alopecia-mental retardation syndrome 3 semapv:UnspecifiedMatching MONDO:0013492 alopecia-intellectual disability syndrome 3 skos:exactMatch MEDGEN:462712 semapv:UnspecifiedMatching MONDO:0013492 alopecia-intellectual disability syndrome 3 skos:exactMatch OMIM:613930 alopecia-intellectual disability syndrome 3 semapv:UnspecifiedMatching MONDO:0013492 alopecia-intellectual disability syndrome 3 skos:exactMatch UMLS:C3151362 semapv:UnspecifiedMatching MONDO:0013493 acetyl-coa carboxylase deficiency skos:exactMatch MEDGEN:124338 semapv:UnspecifiedMatching MONDO:0013493 acetyl-coa carboxylase deficiency skos:exactMatch OMIM:613933 acetyl-coa carboxylase-alpha deficiency semapv:UnspecifiedMatching MONDO:0013493 acetyl-coa carboxylase deficiency skos:exactMatch UMLS:C0268603 semapv:UnspecifiedMatching MONDO:0013493 acetyl-coa carboxylase deficiency skos:exactMatch mesh:C562678 semapv:UnspecifiedMatching MONDO:0013495 autosomal recessive congenital ichthyosis 8 skos:exactMatch DOID:0060717 autosomal recessive congenital ichthyosis 8 semapv:UnspecifiedMatching MONDO:0013495 autosomal recessive congenital ichthyosis 8 skos:exactMatch MEDGEN:765943 semapv:UnspecifiedMatching MONDO:0013495 autosomal recessive congenital ichthyosis 8 skos:exactMatch OMIM:613943 ichthyosis, congenital, autosomal recessive 8 semapv:UnspecifiedMatching MONDO:0013495 autosomal recessive congenital ichthyosis 8 skos:exactMatch UMLS:C3553029 semapv:UnspecifiedMatching MONDO:0013496 IgA nephropathy, susceptibility to, 2 skos:exactMatch MEDGEN:462728 semapv:UnspecifiedMatching MONDO:0013496 IgA nephropathy, susceptibility to, 2 skos:exactMatch OMIM:613944 iga nephropathy, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0013496 IgA nephropathy, susceptibility to, 2 skos:exactMatch UMLS:C3151378 semapv:UnspecifiedMatching MONDO:0013497 Okt4 epitope deficiency skos:exactMatch MEDGEN:462729 semapv:UnspecifiedMatching MONDO:0013497 Okt4 epitope deficiency skos:exactMatch OMIM:613949 okt4 epitope deficiency semapv:UnspecifiedMatching MONDO:0013497 Okt4 epitope deficiency skos:exactMatch UMLS:C3151379 semapv:UnspecifiedMatching MONDO:0013498 schizophrenia 15 skos:exactMatch DOID:0070091 schizophrenia 15 semapv:UnspecifiedMatching MONDO:0013498 schizophrenia 15 skos:exactMatch MEDGEN:462730 semapv:UnspecifiedMatching MONDO:0013498 schizophrenia 15 skos:exactMatch OMIM:613950 schizophrenia 15 semapv:UnspecifiedMatching MONDO:0013498 schizophrenia 15 skos:exactMatch UMLS:C3151380 semapv:UnspecifiedMatching MONDO:0013499 Fanconi anemia complementation group P skos:exactMatch DOID:0111092 Fanconi anemia complementation group P semapv:UnspecifiedMatching MONDO:0013499 Fanconi anemia complementation group P skos:exactMatch MEDGEN:854020 semapv:UnspecifiedMatching MONDO:0013499 Fanconi anemia complementation group P skos:exactMatch OMIM:613951 fanconi anemia, complementation group p semapv:UnspecifiedMatching MONDO:0013499 Fanconi anemia complementation group P skos:exactMatch UMLS:C3469542 semapv:UnspecifiedMatching MONDO:0013500 immunodeficiency 51 skos:exactMatch DOID:0111996 immunodeficiency 51 semapv:UnspecifiedMatching MONDO:0013500 immunodeficiency 51 skos:exactMatch MEDGEN:934770 semapv:UnspecifiedMatching MONDO:0013500 immunodeficiency 51 skos:exactMatch OMIM:613953 immunodeficiency 51 semapv:UnspecifiedMatching MONDO:0013500 immunodeficiency 51 skos:exactMatch UMLS:C4310803 semapv:UnspecifiedMatching MONDO:0013501 frontotemporal dementia and/or amyotrophic lateral sclerosis 6 skos:exactMatch DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis 6 semapv:UnspecifiedMatching MONDO:0013501 frontotemporal dementia and/or amyotrophic lateral sclerosis 6 skos:exactMatch MEDGEN:1759760 semapv:UnspecifiedMatching MONDO:0013501 frontotemporal dementia and/or amyotrophic lateral sclerosis 6 skos:exactMatch OMIM:613954 frontotemporal dementia and/or amyotrophic lateral sclerosis 6 semapv:UnspecifiedMatching MONDO:0013501 frontotemporal dementia and/or amyotrophic lateral sclerosis 6 skos:exactMatch UMLS:C5436279 semapv:UnspecifiedMatching MONDO:0013502 amyloidosis, primary localized cutaneous, 2 skos:exactMatch DOID:0080931 primary localized cutaneous amyloidosis 2 semapv:UnspecifiedMatching MONDO:0013502 amyloidosis, primary localized cutaneous, 2 skos:exactMatch MEDGEN:462754 semapv:UnspecifiedMatching MONDO:0013502 amyloidosis, primary localized cutaneous, 2 skos:exactMatch OMIM:613955 amyloidosis, primary localized cutaneous, 2 semapv:UnspecifiedMatching MONDO:0013502 amyloidosis, primary localized cutaneous, 2 skos:exactMatch UMLS:C3151404 semapv:UnspecifiedMatching MONDO:0013503 candidiasis, familial, 6 skos:exactMatch MEDGEN:462755 semapv:UnspecifiedMatching MONDO:0013503 candidiasis, familial, 6 skos:exactMatch OMIM:613956 candidiasis, familial, 6 semapv:UnspecifiedMatching MONDO:0013503 candidiasis, familial, 6 skos:exactMatch UMLS:C3151405 semapv:UnspecifiedMatching MONDO:0013504 spermatogenic failure 8 skos:exactMatch DOID:0070169 spermatogenic failure 8 semapv:UnspecifiedMatching MONDO:0013504 spermatogenic failure 8 skos:exactMatch MEDGEN:462756 semapv:UnspecifiedMatching MONDO:0013504 spermatogenic failure 8 skos:exactMatch OMIM:613957 spermatogenic failure 8 semapv:UnspecifiedMatching MONDO:0013504 spermatogenic failure 8 skos:exactMatch UMLS:C3151406 semapv:UnspecifiedMatching MONDO:0013505 spermatogenic failure 9 skos:exactMatch DOID:0111156 spermatogenic failure 9 semapv:UnspecifiedMatching MONDO:0013505 spermatogenic failure 9 skos:exactMatch MEDGEN:462757 semapv:UnspecifiedMatching MONDO:0013505 spermatogenic failure 9 skos:exactMatch OMIM:613958 spermatogenic failure 9 semapv:UnspecifiedMatching MONDO:0013505 spermatogenic failure 9 skos:exactMatch UMLS:C3151407 semapv:UnspecifiedMatching MONDO:0013506 schizophrenia 16 skos:exactMatch DOID:0070092 schizophrenia 16 semapv:UnspecifiedMatching MONDO:0013506 schizophrenia 16 skos:exactMatch MEDGEN:462758 semapv:UnspecifiedMatching MONDO:0013506 schizophrenia 16 skos:exactMatch OMIM:613959 schizophrenia 16 semapv:UnspecifiedMatching MONDO:0013506 schizophrenia 16 skos:exactMatch UMLS:C3151408 semapv:UnspecifiedMatching MONDO:0013507 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 skos:exactMatch DOID:0070194 autosomal recessive chronic granulomatous disease 3 semapv:UnspecifiedMatching MONDO:0013507 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 skos:exactMatch MEDGEN:462759 semapv:UnspecifiedMatching MONDO:0013507 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 skos:exactMatch OMIM:613960 granulomatous disease, chronic, autosomal recessive, 3 semapv:UnspecifiedMatching MONDO:0013507 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 skos:exactMatch UMLS:C3151409 semapv:UnspecifiedMatching MONDO:0013508 myopia 19, autosomal dominant skos:exactMatch MEDGEN:462760 semapv:UnspecifiedMatching MONDO:0013508 myopia 19, autosomal dominant skos:exactMatch OMIM:613969 myopia 19, autosomal dominant semapv:UnspecifiedMatching MONDO:0013508 myopia 19, autosomal dominant skos:exactMatch UMLS:C3151410 semapv:UnspecifiedMatching MONDO:0013509 intellectual disability, autosomal dominant 6 skos:exactMatch DOID:0070036 autosomal dominant intellectual developmental disorder 6 semapv:UnspecifiedMatching MONDO:0013509 intellectual disability, autosomal dominant 6 skos:exactMatch MEDGEN:462761 semapv:UnspecifiedMatching MONDO:0013509 intellectual disability, autosomal dominant 6 skos:exactMatch OMIM:613970 intellectual developmental disorder, autosomal dominant 6, with or without seizures semapv:UnspecifiedMatching MONDO:0013509 intellectual disability, autosomal dominant 6 skos:exactMatch Orphanet:589547 GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder semapv:UnspecifiedMatching MONDO:0013509 intellectual disability, autosomal dominant 6 skos:exactMatch UMLS:C3151411 semapv:UnspecifiedMatching MONDO:0013510 melanoma, cutaneous malignant, susceptibility to, 6 skos:exactMatch MEDGEN:462767 semapv:UnspecifiedMatching MONDO:0013510 melanoma, cutaneous malignant, susceptibility to, 6 skos:exactMatch OMIM:613972 melanoma, cutaneous malignant, susceptibility to, 6 semapv:UnspecifiedMatching MONDO:0013510 melanoma, cutaneous malignant, susceptibility to, 6 skos:exactMatch UMLS:C3151417 semapv:UnspecifiedMatching MONDO:0013511 cyanosis, transient neonatal skos:exactMatch MEDGEN:462771 semapv:UnspecifiedMatching MONDO:0013511 cyanosis, transient neonatal skos:exactMatch OMIM:613977 cyanosis, transient neonatal semapv:UnspecifiedMatching MONDO:0013511 cyanosis, transient neonatal skos:exactMatch UMLS:C3151421 semapv:UnspecifiedMatching MONDO:0013512 hemoglobin H disease skos:exactMatch DOID:0110031 hemoglobin H disease semapv:UnspecifiedMatching MONDO:0013512 hemoglobin H disease skos:exactMatch MEDGEN:468531 semapv:UnspecifiedMatching MONDO:0013512 hemoglobin H disease skos:exactMatch NCIT:C95504 Hemoglobin H Disease semapv:UnspecifiedMatching MONDO:0013512 hemoglobin H disease skos:exactMatch OMIM:613978 hemoglobin h disease semapv:UnspecifiedMatching MONDO:0013512 hemoglobin H disease skos:exactMatch Orphanet:93616 Hemoglobin H disease semapv:UnspecifiedMatching MONDO:0013512 hemoglobin H disease skos:exactMatch SCTID:48553001 semapv:UnspecifiedMatching MONDO:0013512 hemoglobin H disease skos:exactMatch UMLS:C3161174 semapv:UnspecifiedMatching MONDO:0013512 hemoglobin H disease skos:exactMatch icd11.foundation:9436211 Haemoglobin H disease ( / included) semapv:UnspecifiedMatching MONDO:0013513 atrial fibrillation, familial, 9 skos:exactMatch MEDGEN:462781 semapv:UnspecifiedMatching MONDO:0013513 atrial fibrillation, familial, 9 skos:exactMatch OMIM:613980 atrial fibrillation, familial, 9 semapv:UnspecifiedMatching MONDO:0013513 atrial fibrillation, familial, 9 skos:exactMatch UMLS:C3151431 semapv:UnspecifiedMatching MONDO:0013514 hypotrichosis 3 skos:exactMatch DOID:0110700 hypotrichosis 3 semapv:UnspecifiedMatching MONDO:0013514 hypotrichosis 3 skos:exactMatch MEDGEN:462782 semapv:UnspecifiedMatching MONDO:0013514 hypotrichosis 3 skos:exactMatch OMIM:613981 hypotrichosis 3 semapv:UnspecifiedMatching MONDO:0013514 hypotrichosis 3 skos:exactMatch UMLS:C3151432 semapv:UnspecifiedMatching MONDO:0013515 osteogenesis imperfecta type 6 skos:exactMatch DOID:0110350 osteogenesis imperfecta type 6 semapv:UnspecifiedMatching MONDO:0013515 osteogenesis imperfecta type 6 skos:exactMatch MEDGEN:481194 semapv:UnspecifiedMatching MONDO:0013515 osteogenesis imperfecta type 6 skos:exactMatch OMIM:613982 osteogenesis imperfecta, type 6 semapv:UnspecifiedMatching MONDO:0013515 osteogenesis imperfecta type 6 skos:exactMatch UMLS:C3279564 semapv:UnspecifiedMatching MONDO:0013515 osteogenesis imperfecta type 6 skos:exactMatch mesh:C536047 semapv:UnspecifiedMatching MONDO:0013516 retinitis pigmentosa 60 skos:exactMatch DOID:0110411 retinitis pigmentosa 60 semapv:UnspecifiedMatching MONDO:0013516 retinitis pigmentosa 60 skos:exactMatch MEDGEN:462784 semapv:UnspecifiedMatching MONDO:0013516 retinitis pigmentosa 60 skos:exactMatch OMIM:613983 retinitis pigmentosa 60 semapv:UnspecifiedMatching MONDO:0013516 retinitis pigmentosa 60 skos:exactMatch UMLS:C3151434 semapv:UnspecifiedMatching MONDO:0013517 beta-thalassemia HBB/LCRB skos:exactMatch OMIM:613985 beta-thalassemia semapv:UnspecifiedMatching MONDO:0013518 pituitary hormone deficiency, combined, 6 skos:exactMatch DOID:0061022 combined pituitary hormone deficiency 6 semapv:UnspecifiedMatching MONDO:0013518 pituitary hormone deficiency, combined, 6 skos:exactMatch MEDGEN:462790 semapv:UnspecifiedMatching MONDO:0013518 pituitary hormone deficiency, combined, 6 skos:exactMatch OMIM:613986 pituitary hormone deficiency, combined, 6 semapv:UnspecifiedMatching MONDO:0013518 pituitary hormone deficiency, combined, 6 skos:exactMatch UMLS:C3151440 semapv:UnspecifiedMatching MONDO:0013519 dyskeratosis congenita, autosomal recessive 2 skos:exactMatch DOID:0070017 autosomal recessive dyskeratosis congenita 2 semapv:UnspecifiedMatching MONDO:0013519 dyskeratosis congenita, autosomal recessive 2 skos:exactMatch MEDGEN:462791 semapv:UnspecifiedMatching MONDO:0013519 dyskeratosis congenita, autosomal recessive 2 skos:exactMatch NCIT:C176926 Dyskeratosis Congenita, Autosomal Recessive 2 semapv:UnspecifiedMatching MONDO:0013519 dyskeratosis congenita, autosomal recessive 2 skos:exactMatch OMIM:613987 dyskeratosis congenita, autosomal recessive 2 semapv:UnspecifiedMatching MONDO:0013519 dyskeratosis congenita, autosomal recessive 2 skos:exactMatch UMLS:C3151441 semapv:UnspecifiedMatching MONDO:0013520 dyskeratosis congenita, autosomal recessive 3 skos:exactMatch DOID:0070019 autosomal recessive dyskeratosis congenita 3 semapv:UnspecifiedMatching MONDO:0013520 dyskeratosis congenita, autosomal recessive 3 skos:exactMatch MEDGEN:462792 semapv:UnspecifiedMatching MONDO:0013520 dyskeratosis congenita, autosomal recessive 3 skos:exactMatch NCIT:C176927 Dyskeratosis Congenita, Autosomal Recessive 3 semapv:UnspecifiedMatching MONDO:0013520 dyskeratosis congenita, autosomal recessive 3 skos:exactMatch OMIM:613988 dyskeratosis congenita, autosomal recessive 3 semapv:UnspecifiedMatching MONDO:0013520 dyskeratosis congenita, autosomal recessive 3 skos:exactMatch UMLS:C3151442 semapv:UnspecifiedMatching MONDO:0013521 dyskeratosis congenita, autosomal dominant 2 skos:exactMatch DOID:0070016 autosomal dominant dyskeratosis congenita 2 semapv:UnspecifiedMatching MONDO:0013521 dyskeratosis congenita, autosomal dominant 2 skos:exactMatch MEDGEN:462793 semapv:UnspecifiedMatching MONDO:0013521 dyskeratosis congenita, autosomal dominant 2 skos:exactMatch NCIT:C176922 Dyskeratosis Congenita, Autosomal Dominant 2 semapv:UnspecifiedMatching MONDO:0013521 dyskeratosis congenita, autosomal dominant 2 skos:exactMatch OMIM:613989 dyskeratosis congenita, autosomal dominant 2 semapv:UnspecifiedMatching MONDO:0013521 dyskeratosis congenita, autosomal dominant 2 skos:exactMatch UMLS:C3151443 semapv:UnspecifiedMatching MONDO:0013522 dyskeratosis congenita, autosomal dominant 3 skos:exactMatch DOID:0070018 autosomal dominant dyskeratosis congenita 3 semapv:UnspecifiedMatching MONDO:0013522 dyskeratosis congenita, autosomal dominant 3 skos:exactMatch MEDGEN:462795 semapv:UnspecifiedMatching MONDO:0013522 dyskeratosis congenita, autosomal dominant 3 skos:exactMatch NCIT:C176923 Dyskeratosis Congenita, Autosomal Dominant 3 semapv:UnspecifiedMatching MONDO:0013522 dyskeratosis congenita, autosomal dominant 3 skos:exactMatch OMIM:613990 dyskeratosis congenita, autosomal dominant 3 semapv:UnspecifiedMatching MONDO:0013522 dyskeratosis congenita, autosomal dominant 3 skos:exactMatch UMLS:C3151445 semapv:UnspecifiedMatching MONDO:0013523 Nestor-Guillermo progeria syndrome skos:exactMatch DOID:0081334 Nestor-Guillermo progeria syndrome semapv:UnspecifiedMatching MONDO:0013523 Nestor-Guillermo progeria syndrome skos:exactMatch MEDGEN:462796 semapv:UnspecifiedMatching MONDO:0013523 Nestor-Guillermo progeria syndrome skos:exactMatch OMIM:614008 nestor-guillermo progeria syndrome semapv:UnspecifiedMatching MONDO:0013523 Nestor-Guillermo progeria syndrome skos:exactMatch Orphanet:280576 Nestor-Guillermo progeria syndrome semapv:UnspecifiedMatching MONDO:0013523 Nestor-Guillermo progeria syndrome skos:exactMatch UMLS:C3151446 semapv:UnspecifiedMatching MONDO:0013525 primary ciliary dyskinesia 16 skos:exactMatch DOID:0110613 primary ciliary dyskinesia 16 semapv:UnspecifiedMatching MONDO:0013525 primary ciliary dyskinesia 16 skos:exactMatch MEDGEN:462810 semapv:UnspecifiedMatching MONDO:0013525 primary ciliary dyskinesia 16 skos:exactMatch OMIM:614017 ciliary dyskinesia, primary, 16 semapv:UnspecifiedMatching MONDO:0013525 primary ciliary dyskinesia 16 skos:exactMatch UMLS:C3151460 semapv:UnspecifiedMatching MONDO:0013526 progressive myoclonic epilepsy type 6 skos:exactMatch DOID:0111449 progressive myoclonus epilepsy 6 semapv:UnspecifiedMatching MONDO:0013526 progressive myoclonic epilepsy type 6 skos:exactMatch MEDGEN:1681379 semapv:UnspecifiedMatching MONDO:0013526 progressive myoclonic epilepsy type 6 skos:exactMatch OMIM:614018 epilepsy, progressive myoclonic, 6 semapv:UnspecifiedMatching MONDO:0013526 progressive myoclonic epilepsy type 6 skos:exactMatch Orphanet:280620 Progressive myoclonic epilepsy type 6 semapv:UnspecifiedMatching MONDO:0013526 progressive myoclonic epilepsy type 6 skos:exactMatch UMLS:C5190805 semapv:UnspecifiedMatching MONDO:0013526 progressive myoclonic epilepsy type 6 skos:exactMatch icd11.foundation:878291417 Progressive myoclonic epilepsy type 6 semapv:UnspecifiedMatching MONDO:0013527 lissencephaly 4 skos:exactMatch DOID:0112235 lissencephaly 4 semapv:UnspecifiedMatching MONDO:0013527 lissencephaly 4 skos:exactMatch MEDGEN:462811 semapv:UnspecifiedMatching MONDO:0013527 lissencephaly 4 skos:exactMatch OMIM:614019 lissencephaly 4 with microcephaly semapv:UnspecifiedMatching MONDO:0013527 lissencephaly 4 skos:exactMatch UMLS:C3151461 semapv:UnspecifiedMatching MONDO:0013528 intellectual disability, autosomal recessive 14 skos:exactMatch DOID:0081188 autosomal recessive intellectual developmental disorder 14 semapv:UnspecifiedMatching MONDO:0013528 intellectual disability, autosomal recessive 14 skos:exactMatch MEDGEN:462812 semapv:UnspecifiedMatching MONDO:0013528 intellectual disability, autosomal recessive 14 skos:exactMatch OMIM:614020 intellectual developmental disorder, autosomal recessive 14 semapv:UnspecifiedMatching MONDO:0013528 intellectual disability, autosomal recessive 14 skos:exactMatch UMLS:C3151462 semapv:UnspecifiedMatching MONDO:0013529 catecholaminergic polymorphic ventricular tachycardia 3 skos:exactMatch DOID:0060677 catecholaminergic polymorphic ventricular tachycardia 3 semapv:UnspecifiedMatching MONDO:0013529 catecholaminergic polymorphic ventricular tachycardia 3 skos:exactMatch MEDGEN:462813 semapv:UnspecifiedMatching MONDO:0013529 catecholaminergic polymorphic ventricular tachycardia 3 skos:exactMatch OMIM:614021 ventricular tachycardia, catecholaminergic polymorphic, 3 semapv:UnspecifiedMatching MONDO:0013529 catecholaminergic polymorphic ventricular tachycardia 3 skos:exactMatch UMLS:C3151463 semapv:UnspecifiedMatching MONDO:0013530 atrial fibrillation, familial, 10 skos:exactMatch MEDGEN:462814 semapv:UnspecifiedMatching MONDO:0013530 atrial fibrillation, familial, 10 skos:exactMatch OMIM:614022 atrial fibrillation, familial, 10 semapv:UnspecifiedMatching MONDO:0013530 atrial fibrillation, familial, 10 skos:exactMatch UMLS:C3151464 semapv:UnspecifiedMatching MONDO:0013531 PSPH deficiency skos:exactMatch DOID:0050724 PSPH deficiency semapv:UnspecifiedMatching MONDO:0013531 PSPH deficiency skos:exactMatch MEDGEN:452940 semapv:UnspecifiedMatching MONDO:0013531 PSPH deficiency skos:exactMatch OMIM:614023 phosphoserine phosphatase deficiency semapv:UnspecifiedMatching MONDO:0013531 PSPH deficiency skos:exactMatch Orphanet:79350 3-phosphoserine phosphatase deficiency, infantile/juvenile form semapv:UnspecifiedMatching MONDO:0013531 PSPH deficiency skos:exactMatch SCTID:124432005 semapv:UnspecifiedMatching MONDO:0013531 PSPH deficiency skos:exactMatch UMLS:C1291463 semapv:UnspecifiedMatching MONDO:0013532 protein Z deficiency skos:exactMatch MEDGEN:462815 semapv:UnspecifiedMatching MONDO:0013532 protein Z deficiency skos:exactMatch OMIM:614024 protein z deficiency semapv:UnspecifiedMatching MONDO:0013532 protein Z deficiency skos:exactMatch UMLS:C3151465 semapv:UnspecifiedMatching MONDO:0013533 hyperlipidemia due to hepatic triglyceride lipase deficiency skos:exactMatch MEDGEN:462816 semapv:UnspecifiedMatching MONDO:0013533 hyperlipidemia due to hepatic triglyceride lipase deficiency skos:exactMatch OMIM:614025 hepatic lipase deficiency semapv:UnspecifiedMatching MONDO:0013533 hyperlipidemia due to hepatic triglyceride lipase deficiency skos:exactMatch Orphanet:140905 Hyperlipidemia due to hepatic triacylglycerol lipase deficiency semapv:UnspecifiedMatching MONDO:0013533 hyperlipidemia due to hepatic triglyceride lipase deficiency skos:exactMatch SCTID:720940008 semapv:UnspecifiedMatching MONDO:0013533 hyperlipidemia due to hepatic triglyceride lipase deficiency skos:exactMatch UMLS:C3151466 semapv:UnspecifiedMatching MONDO:0013534 apolipoprotein c-III deficiency skos:exactMatch DOID:0111370 apolipoprotein C-III deficiency semapv:UnspecifiedMatching MONDO:0013534 apolipoprotein c-III deficiency skos:exactMatch MEDGEN:462817 semapv:UnspecifiedMatching MONDO:0013534 apolipoprotein c-III deficiency skos:exactMatch OMIM:614028 apolipoprotein c-iii deficiency semapv:UnspecifiedMatching MONDO:0013534 apolipoprotein c-III deficiency skos:exactMatch UMLS:C3151467 semapv:UnspecifiedMatching MONDO:0013534 apolipoprotein c-III deficiency skos:exactMatch mesh:C566270 semapv:UnspecifiedMatching MONDO:0013535 hydroxyacyl glutathione hydrolase deficiency skos:exactMatch MEDGEN:481287 semapv:UnspecifiedMatching MONDO:0013535 hydroxyacyl glutathione hydrolase deficiency skos:exactMatch OMIM:614033 hydroxyacyl glutathione hydrolase deficiency semapv:UnspecifiedMatching MONDO:0013535 hydroxyacyl glutathione hydrolase deficiency skos:exactMatch UMLS:C3279657 semapv:UnspecifiedMatching MONDO:0013535 hydroxyacyl glutathione hydrolase deficiency skos:exactMatch mesh:C564215 semapv:UnspecifiedMatching MONDO:0013536 heme oxygenase 1 deficiency skos:exactMatch MEDGEN:333882 semapv:UnspecifiedMatching MONDO:0013536 heme oxygenase 1 deficiency skos:exactMatch OMIM:614034 heme oxygenase 1 deficiency semapv:UnspecifiedMatching MONDO:0013536 heme oxygenase 1 deficiency skos:exactMatch Orphanet:562509 Heme oxygenase-1 deficiency semapv:UnspecifiedMatching MONDO:0013536 heme oxygenase 1 deficiency skos:exactMatch UMLS:C1841651 semapv:UnspecifiedMatching MONDO:0013536 heme oxygenase 1 deficiency skos:exactMatch mesh:C564200 semapv:UnspecifiedMatching MONDO:0013537 autosomal recessive nonsyndromic hearing loss 29 skos:exactMatch DOID:0110487 autosomal recessive nonsyndromic deafness 29 semapv:UnspecifiedMatching MONDO:0013537 autosomal recessive nonsyndromic hearing loss 29 skos:exactMatch MEDGEN:481290 semapv:UnspecifiedMatching MONDO:0013537 autosomal recessive nonsyndromic hearing loss 29 skos:exactMatch OMIM:614035 deafness, autosomal recessive 29 semapv:UnspecifiedMatching MONDO:0013537 autosomal recessive nonsyndromic hearing loss 29 skos:exactMatch UMLS:C3279660 semapv:UnspecifiedMatching MONDO:0013538 obsolete alpha-2-macroglobulin deficiency skos:exactMatch OMIM:614036 alpha-2-macroglobulin deficiency semapv:UnspecifiedMatching MONDO:0013538 obsolete alpha-2-macroglobulin deficiency skos:exactMatch mesh:C566304 semapv:UnspecifiedMatching MONDO:0013539 hypotonia-failure to thrive-microcephaly syndrome skos:exactMatch MEDGEN:481292 semapv:UnspecifiedMatching MONDO:0013539 hypotonia-failure to thrive-microcephaly syndrome skos:exactMatch OMIM:614037 leukotriene c4 synthase deficiency semapv:UnspecifiedMatching MONDO:0013539 hypotonia-failure to thrive-microcephaly syndrome skos:exactMatch Orphanet:79507 Hypotonia-failure to thrive-microcephaly syndrome semapv:UnspecifiedMatching MONDO:0013539 hypotonia-failure to thrive-microcephaly syndrome skos:exactMatch SCTID:717185008 semapv:UnspecifiedMatching MONDO:0013539 hypotonia-failure to thrive-microcephaly syndrome skos:exactMatch UMLS:C3279662 semapv:UnspecifiedMatching MONDO:0013539 hypotonia-failure to thrive-microcephaly syndrome skos:exactMatch mesh:C565439 semapv:UnspecifiedMatching MONDO:0013540 deafness-lymphedema-leukemia syndrome skos:exactMatch MEDGEN:481294 semapv:UnspecifiedMatching MONDO:0013540 deafness-lymphedema-leukemia syndrome skos:exactMatch OMIM:614038 lymphedema, primary, with myelodysplasia semapv:UnspecifiedMatching MONDO:0013540 deafness-lymphedema-leukemia syndrome skos:exactMatch SCTID:700057001 semapv:UnspecifiedMatching MONDO:0013540 deafness-lymphedema-leukemia syndrome skos:exactMatch UMLS:C3279664 semapv:UnspecifiedMatching MONDO:0013540 deafness-lymphedema-leukemia syndrome skos:exactMatch icd11.foundation:1818043307 Deafness, lymphoedema and leukaemia syndrome semapv:UnspecifiedMatching MONDO:0013541 complex cortical dysplasia with other brain malformations 1 skos:exactMatch DOID:0090137 complex cortical dysplasia with other brain malformations 1 semapv:UnspecifiedMatching MONDO:0013541 complex cortical dysplasia with other brain malformations 1 skos:exactMatch MEDGEN:814727 semapv:UnspecifiedMatching MONDO:0013541 complex cortical dysplasia with other brain malformations 1 skos:exactMatch OMIM:614039 cortical dysplasia, complex, with other brain malformations 1 semapv:UnspecifiedMatching MONDO:0013541 complex cortical dysplasia with other brain malformations 1 skos:exactMatch Orphanet:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation semapv:UnspecifiedMatching MONDO:0013541 complex cortical dysplasia with other brain malformations 1 skos:exactMatch UMLS:C3808397 semapv:UnspecifiedMatching MONDO:0013542 Moyamoya disease 5 skos:exactMatch MEDGEN:481320 semapv:UnspecifiedMatching MONDO:0013542 Moyamoya disease 5 skos:exactMatch OMIM:614042 moyamoya disease 5 semapv:UnspecifiedMatching MONDO:0013542 Moyamoya disease 5 skos:exactMatch UMLS:C3279690 semapv:UnspecifiedMatching MONDO:0013543 trypsinogen deficiency skos:exactMatch MEDGEN:450540 semapv:UnspecifiedMatching MONDO:0013543 trypsinogen deficiency skos:exactMatch OMIM:614044 trypsinogen deficiency semapv:UnspecifiedMatching MONDO:0013543 trypsinogen deficiency skos:exactMatch SCTID:190953007 semapv:UnspecifiedMatching MONDO:0013543 trypsinogen deficiency skos:exactMatch UMLS:C0268417 semapv:UnspecifiedMatching MONDO:0013544 atrial fibrillation, familial, 11 skos:exactMatch MEDGEN:481323 semapv:UnspecifiedMatching MONDO:0013544 atrial fibrillation, familial, 11 skos:exactMatch OMIM:614049 atrial fibrillation, familial, 11 semapv:UnspecifiedMatching MONDO:0013544 atrial fibrillation, familial, 11 skos:exactMatch UMLS:C3279693 semapv:UnspecifiedMatching MONDO:0013545 atrial fibrillation, familial, 12 skos:exactMatch MEDGEN:481325 semapv:UnspecifiedMatching MONDO:0013545 atrial fibrillation, familial, 12 skos:exactMatch OMIM:614050 atrial fibrillation, familial, 12 semapv:UnspecifiedMatching MONDO:0013545 atrial fibrillation, familial, 12 skos:exactMatch UMLS:C3279695 semapv:UnspecifiedMatching MONDO:0013546 mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 skos:exactMatch DOID:0060331 mitochondrial complex V (ATP synthase) deficiency nuclear type 2 semapv:UnspecifiedMatching MONDO:0013546 mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 skos:exactMatch MEDGEN:481329 semapv:UnspecifiedMatching MONDO:0013546 mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 skos:exactMatch OMIM:614052 mitochondrial complex 5 (atp synthase) deficiency, nuclear type 2 semapv:UnspecifiedMatching MONDO:0013546 mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 skos:exactMatch Orphanet:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy semapv:UnspecifiedMatching MONDO:0013546 mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 skos:exactMatch SCTID:718212006 semapv:UnspecifiedMatching MONDO:0013546 mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 skos:exactMatch UMLS:C3279699 semapv:UnspecifiedMatching MONDO:0013546 mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 skos:exactMatch mesh:C567528 semapv:UnspecifiedMatching MONDO:0013547 mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 skos:exactMatch DOID:0060332 mitochondrial complex V (ATP synthase) deficiency nuclear type 3 semapv:UnspecifiedMatching MONDO:0013547 mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 skos:exactMatch MEDGEN:481338 semapv:UnspecifiedMatching MONDO:0013547 mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 skos:exactMatch OMIM:614053 mitochondrial complex 5 (atp synthase) deficiency, nuclear type 3 semapv:UnspecifiedMatching MONDO:0013547 mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 skos:exactMatch UMLS:C3279708 semapv:UnspecifiedMatching MONDO:0013548 acetyl-CoA acetyltransferase-2 deficiency skos:exactMatch MEDGEN:90995 semapv:UnspecifiedMatching MONDO:0013548 acetyl-CoA acetyltransferase-2 deficiency skos:exactMatch OMIM:614055 acetyl-coa acetyltransferase-2 deficiency semapv:UnspecifiedMatching MONDO:0013548 acetyl-CoA acetyltransferase-2 deficiency skos:exactMatch UMLS:C0342735 semapv:UnspecifiedMatching MONDO:0013548 acetyl-CoA acetyltransferase-2 deficiency skos:exactMatch mesh:C536005 semapv:UnspecifiedMatching MONDO:0013549 N-acetylaspartate deficiency skos:exactMatch MEDGEN:481346 semapv:UnspecifiedMatching MONDO:0013549 N-acetylaspartate deficiency skos:exactMatch OMIM:614063 n-acetylaspartate deficiency semapv:UnspecifiedMatching MONDO:0013549 N-acetylaspartate deficiency skos:exactMatch UMLS:C3279716 semapv:UnspecifiedMatching MONDO:0013550 distal myopathy with posterior leg and anterior hand involvement skos:exactMatch DOID:0111190 distal myopathy 4 semapv:UnspecifiedMatching MONDO:0013550 distal myopathy with posterior leg and anterior hand involvement skos:exactMatch MEDGEN:481352 semapv:UnspecifiedMatching MONDO:0013550 distal myopathy with posterior leg and anterior hand involvement skos:exactMatch OMIM:614065 myopathy, distal, 4 semapv:UnspecifiedMatching MONDO:0013550 distal myopathy with posterior leg and anterior hand involvement skos:exactMatch Orphanet:63273 Distal myopathy with posterior leg and anterior hand involvement semapv:UnspecifiedMatching MONDO:0013550 distal myopathy with posterior leg and anterior hand involvement skos:exactMatch SCTID:733489002 semapv:UnspecifiedMatching MONDO:0013550 distal myopathy with posterior leg and anterior hand involvement skos:exactMatch UMLS:C3279722 semapv:UnspecifiedMatching MONDO:0013551 hereditary spastic paraplegia 47 skos:exactMatch DOID:0110799 hereditary spastic paraplegia 47 semapv:UnspecifiedMatching MONDO:0013551 hereditary spastic paraplegia 47 skos:exactMatch MEDGEN:481368 semapv:UnspecifiedMatching MONDO:0013551 hereditary spastic paraplegia 47 skos:exactMatch NCIT:C164224 Spastic Paraplegia 47 semapv:UnspecifiedMatching MONDO:0013551 hereditary spastic paraplegia 47 skos:exactMatch OMIM:614066 spastic paraplegia 47, autosomal recessive semapv:UnspecifiedMatching MONDO:0013551 hereditary spastic paraplegia 47 skos:exactMatch UMLS:C3279738 semapv:UnspecifiedMatching MONDO:0013552 hereditary spastic paraplegia 52 skos:exactMatch DOID:0110804 hereditary spastic paraplegia 52 semapv:UnspecifiedMatching MONDO:0013552 hereditary spastic paraplegia 52 skos:exactMatch MEDGEN:481373 semapv:UnspecifiedMatching MONDO:0013552 hereditary spastic paraplegia 52 skos:exactMatch OMIM:614067 spastic paraplegia 52, autosomal recessive semapv:UnspecifiedMatching MONDO:0013552 hereditary spastic paraplegia 52 skos:exactMatch UMLS:C3279743 semapv:UnspecifiedMatching MONDO:0013553 immunodeficiency-centromeric instability-facial anomalies syndrome 2 skos:exactMatch DOID:0090009 immunodeficiency-centromeric instability-facial anomalies syndrome 2 semapv:UnspecifiedMatching MONDO:0013553 immunodeficiency-centromeric instability-facial anomalies syndrome 2 skos:exactMatch MEDGEN:481378 semapv:UnspecifiedMatching MONDO:0013553 immunodeficiency-centromeric instability-facial anomalies syndrome 2 skos:exactMatch OMIM:614069 immunodeficiency-centromeric instability-facial anomalies syndrome 2 semapv:UnspecifiedMatching MONDO:0013553 immunodeficiency-centromeric instability-facial anomalies syndrome 2 skos:exactMatch UMLS:C3279748 semapv:UnspecifiedMatching MONDO:0013554 psoriasis 13, susceptibility to skos:exactMatch DOID:0111287 psoriasis 13 semapv:UnspecifiedMatching MONDO:0013554 psoriasis 13, susceptibility to skos:exactMatch MEDGEN:481384 semapv:UnspecifiedMatching MONDO:0013554 psoriasis 13, susceptibility to skos:exactMatch OMIM:614070 psoriasis 13, susceptibility to semapv:UnspecifiedMatching MONDO:0013554 psoriasis 13, susceptibility to skos:exactMatch UMLS:C3279754 semapv:UnspecifiedMatching MONDO:0013555 Hermansky-Pudlak syndrome 3 skos:exactMatch DOID:0060541 Hermansky-Pudlak syndrome 3 semapv:UnspecifiedMatching MONDO:0013555 Hermansky-Pudlak syndrome 3 skos:exactMatch MEDGEN:854708 semapv:UnspecifiedMatching MONDO:0013555 Hermansky-Pudlak syndrome 3 skos:exactMatch OMIM:614072 hermansky-pudlak syndrome 3 semapv:UnspecifiedMatching MONDO:0013555 Hermansky-Pudlak syndrome 3 skos:exactMatch UMLS:C3888001 semapv:UnspecifiedMatching MONDO:0013556 Hermansky-Pudlak syndrome 4 skos:exactMatch DOID:0060542 Hermansky-Pudlak syndrome 4 semapv:UnspecifiedMatching MONDO:0013556 Hermansky-Pudlak syndrome 4 skos:exactMatch MEDGEN:483344 semapv:UnspecifiedMatching MONDO:0013556 Hermansky-Pudlak syndrome 4 skos:exactMatch OMIM:614073 hermansky-pudlak syndrome 4 semapv:UnspecifiedMatching MONDO:0013556 Hermansky-Pudlak syndrome 4 skos:exactMatch UMLS:C3484357 semapv:UnspecifiedMatching MONDO:0013557 Hermansky-Pudlak syndrome 5 skos:exactMatch DOID:0060543 Hermansky-Pudlak syndrome 5 semapv:UnspecifiedMatching MONDO:0013557 Hermansky-Pudlak syndrome 5 skos:exactMatch MEDGEN:854711 semapv:UnspecifiedMatching MONDO:0013557 Hermansky-Pudlak syndrome 5 skos:exactMatch OMIM:614074 hermansky-pudlak syndrome 5 semapv:UnspecifiedMatching MONDO:0013557 Hermansky-Pudlak syndrome 5 skos:exactMatch UMLS:C3888004 semapv:UnspecifiedMatching MONDO:0013558 Hermansky-Pudlak syndrome 6 skos:exactMatch DOID:0060544 Hermansky-Pudlak syndrome 6 semapv:UnspecifiedMatching MONDO:0013558 Hermansky-Pudlak syndrome 6 skos:exactMatch MEDGEN:854714 semapv:UnspecifiedMatching MONDO:0013558 Hermansky-Pudlak syndrome 6 skos:exactMatch NCIT:C150369 Hermansky-Pudlak Syndrome 6 semapv:UnspecifiedMatching MONDO:0013558 Hermansky-Pudlak syndrome 6 skos:exactMatch OMIM:614075 hermansky-pudlak syndrome 6 semapv:UnspecifiedMatching MONDO:0013558 Hermansky-Pudlak syndrome 6 skos:exactMatch UMLS:C3888007 semapv:UnspecifiedMatching MONDO:0013559 Hermansky-Pudlak syndrome 7 skos:exactMatch DOID:0060545 Hermansky-Pudlak syndrome 7 semapv:UnspecifiedMatching MONDO:0013559 Hermansky-Pudlak syndrome 7 skos:exactMatch MEDGEN:481386 semapv:UnspecifiedMatching MONDO:0013559 Hermansky-Pudlak syndrome 7 skos:exactMatch OMIM:614076 hermansky-pudlak syndrome 7 semapv:UnspecifiedMatching MONDO:0013559 Hermansky-Pudlak syndrome 7 skos:exactMatch Orphanet:231531 Hermansky-Pudlak syndrome due to BLOC-1 deficiency semapv:UnspecifiedMatching MONDO:0013559 Hermansky-Pudlak syndrome 7 skos:exactMatch UMLS:C3279756 semapv:UnspecifiedMatching MONDO:0013560 Hermansky-Pudlak syndrome 8 skos:exactMatch DOID:0060546 Hermansky-Pudlak syndrome 8 semapv:UnspecifiedMatching MONDO:0013560 Hermansky-Pudlak syndrome 8 skos:exactMatch MEDGEN:854728 semapv:UnspecifiedMatching MONDO:0013560 Hermansky-Pudlak syndrome 8 skos:exactMatch OMIM:614077 hermansky-pudlak syndrome 8 semapv:UnspecifiedMatching MONDO:0013560 Hermansky-Pudlak syndrome 8 skos:exactMatch UMLS:C3888026 semapv:UnspecifiedMatching MONDO:0013561 chondrodysplasia with joint dislocations, gPAPP type skos:exactMatch DOID:0112224 chondrodysplasia with joint dislocations gPAPP type semapv:UnspecifiedMatching MONDO:0013561 chondrodysplasia with joint dislocations, gPAPP type skos:exactMatch MEDGEN:481387 semapv:UnspecifiedMatching MONDO:0013561 chondrodysplasia with joint dislocations, gPAPP type skos:exactMatch OMIM:614078 chondrodysplasia with joint dislocations, gpapp type semapv:UnspecifiedMatching MONDO:0013561 chondrodysplasia with joint dislocations, gPAPP type skos:exactMatch Orphanet:280586 Chondrodysplasia with joint dislocations, gPAPP type semapv:UnspecifiedMatching MONDO:0013561 chondrodysplasia with joint dislocations, gPAPP type skos:exactMatch UMLS:C3279757 semapv:UnspecifiedMatching MONDO:0013562 aspergillosis, susceptibility to skos:exactMatch MEDGEN:481404 semapv:UnspecifiedMatching MONDO:0013562 aspergillosis, susceptibility to skos:exactMatch OMIM:614079 aspergillosis, susceptibility to semapv:UnspecifiedMatching MONDO:0013562 aspergillosis, susceptibility to skos:exactMatch UMLS:C3279774 semapv:UnspecifiedMatching MONDO:0013563 multiple congenital anomalies-hypotonia-seizures syndrome 1 skos:exactMatch DOID:0080138 multiple congenital anomalies-hypotonia-seizures syndrome 1 semapv:UnspecifiedMatching MONDO:0013563 multiple congenital anomalies-hypotonia-seizures syndrome 1 skos:exactMatch MEDGEN:481405 semapv:UnspecifiedMatching MONDO:0013563 multiple congenital anomalies-hypotonia-seizures syndrome 1 skos:exactMatch NCIT:C176896 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 semapv:UnspecifiedMatching MONDO:0013563 multiple congenital anomalies-hypotonia-seizures syndrome 1 skos:exactMatch OMIM:614080 multiple congenital anomalies-hypotonia-seizures syndrome 1 semapv:UnspecifiedMatching MONDO:0013563 multiple congenital anomalies-hypotonia-seizures syndrome 1 skos:exactMatch Orphanet:280633 Multiple congenital anomalies-hypotonia-seizures syndrome semapv:UnspecifiedMatching MONDO:0013563 multiple congenital anomalies-hypotonia-seizures syndrome 1 skos:exactMatch UMLS:C3279775 semapv:UnspecifiedMatching MONDO:0013564 anhaptoglobinemia skos:exactMatch MEDGEN:481416 semapv:UnspecifiedMatching MONDO:0013564 anhaptoglobinemia skos:exactMatch OMIM:614081 anhaptoglobinemia semapv:UnspecifiedMatching MONDO:0013564 anhaptoglobinemia skos:exactMatch UMLS:C3279786 semapv:UnspecifiedMatching MONDO:0013565 Fanconi anemia complementation group G skos:exactMatch DOID:0111086 Fanconi anemia complementation group G semapv:UnspecifiedMatching MONDO:0013565 Fanconi anemia complementation group G skos:exactMatch MEDGEN:854017 semapv:UnspecifiedMatching MONDO:0013565 Fanconi anemia complementation group G skos:exactMatch NCIT:C125708 Fanconi Anemia, Complementation Group G semapv:UnspecifiedMatching MONDO:0013565 Fanconi anemia complementation group G skos:exactMatch OMIM:614082 fanconi anemia, complementation group g semapv:UnspecifiedMatching MONDO:0013565 Fanconi anemia complementation group G skos:exactMatch UMLS:C3469527 semapv:UnspecifiedMatching MONDO:0013566 Fanconi anemia complementation group L skos:exactMatch DOID:0111082 Fanconi anemia complementation group L semapv:UnspecifiedMatching MONDO:0013566 Fanconi anemia complementation group L skos:exactMatch MEDGEN:854018 semapv:UnspecifiedMatching MONDO:0013566 Fanconi anemia complementation group L skos:exactMatch OMIM:614083 fanconi anemia, complementation group 50 semapv:UnspecifiedMatching MONDO:0013566 Fanconi anemia complementation group L skos:exactMatch UMLS:C3469528 semapv:UnspecifiedMatching MONDO:0013567 atrial septal defect 3 skos:exactMatch DOID:0110108 atrial heart septal defect 3 semapv:UnspecifiedMatching MONDO:0013567 atrial septal defect 3 skos:exactMatch MEDGEN:481420 semapv:UnspecifiedMatching MONDO:0013567 atrial septal defect 3 skos:exactMatch OMIM:614089 atrial septal defect 3 semapv:UnspecifiedMatching MONDO:0013567 atrial septal defect 3 skos:exactMatch UMLS:C3279790 semapv:UnspecifiedMatching MONDO:0013567 atrial septal defect 3 skos:exactMatch mesh:C563540 semapv:UnspecifiedMatching MONDO:0013568 sick sinus syndrome 3, susceptibility to skos:exactMatch MEDGEN:481421 semapv:UnspecifiedMatching MONDO:0013568 sick sinus syndrome 3, susceptibility to skos:exactMatch OMIM:614090 sick sinus syndrome 3, susceptibility to semapv:UnspecifiedMatching MONDO:0013568 sick sinus syndrome 3, susceptibility to skos:exactMatch UMLS:C3279791 semapv:UnspecifiedMatching MONDO:0013569 short-rib thoracic dysplasia 7 with or without polydactyly skos:exactMatch DOID:0110090 short-rib thoracic dysplasia 7 with or without polydactyly semapv:UnspecifiedMatching MONDO:0013569 short-rib thoracic dysplasia 7 with or without polydactyly skos:exactMatch MEDGEN:481422 semapv:UnspecifiedMatching MONDO:0013569 short-rib thoracic dysplasia 7 with or without polydactyly skos:exactMatch OMIM:614091 short-rib thoracic dysplasia 7 with or without polydactyly semapv:UnspecifiedMatching MONDO:0013569 short-rib thoracic dysplasia 7 with or without polydactyly skos:exactMatch Orphanet:498497 Short rib-polydactyly syndrome type 5 semapv:UnspecifiedMatching MONDO:0013569 short-rib thoracic dysplasia 7 with or without polydactyly skos:exactMatch UMLS:C3279792 semapv:UnspecifiedMatching MONDO:0013570 combined oxidative phosphorylation defect type 8 skos:exactMatch DOID:0111479 combined oxidative phosphorylation deficiency 8 semapv:UnspecifiedMatching MONDO:0013570 combined oxidative phosphorylation defect type 8 skos:exactMatch MEDGEN:1377817 semapv:UnspecifiedMatching MONDO:0013570 combined oxidative phosphorylation defect type 8 skos:exactMatch OMIM:614096 combined oxidative phosphorylation deficiency 8 semapv:UnspecifiedMatching MONDO:0013570 combined oxidative phosphorylation defect type 8 skos:exactMatch Orphanet:319504 Combined oxidative phosphorylation defect type 8 semapv:UnspecifiedMatching MONDO:0013570 combined oxidative phosphorylation defect type 8 skos:exactMatch SCTID:733600007 semapv:UnspecifiedMatching MONDO:0013570 combined oxidative phosphorylation defect type 8 skos:exactMatch UMLS:C4518839 semapv:UnspecifiedMatching MONDO:0013571 acatalasia skos:exactMatch DOID:2582 acatalasia semapv:UnspecifiedMatching MONDO:0013571 acatalasia skos:exactMatch EFO:0004144 semapv:UnspecifiedMatching MONDO:0013571 acatalasia skos:exactMatch MEDGEN:75679 semapv:UnspecifiedMatching MONDO:0013571 acatalasia skos:exactMatch NCIT:C84526 Acatalasemia semapv:UnspecifiedMatching MONDO:0013571 acatalasia skos:exactMatch OMIM:614097 acatalasemia semapv:UnspecifiedMatching MONDO:0013571 acatalasia skos:exactMatch Orphanet:926 Acatalasemia semapv:UnspecifiedMatching MONDO:0013571 acatalasia skos:exactMatch SCTID:124202004 semapv:UnspecifiedMatching MONDO:0013571 acatalasia skos:exactMatch UMLS:C0268419 semapv:UnspecifiedMatching MONDO:0013571 acatalasia skos:exactMatch mesh:D020642 semapv:UnspecifiedMatching MONDO:0013572 Keppen-Lubinsky syndrome skos:exactMatch MEDGEN:481430 semapv:UnspecifiedMatching MONDO:0013572 Keppen-Lubinsky syndrome skos:exactMatch OMIM:614098 keppen-lubinsky syndrome semapv:UnspecifiedMatching MONDO:0013572 Keppen-Lubinsky syndrome skos:exactMatch Orphanet:435628 Keppen-Lubinsky syndrome semapv:UnspecifiedMatching MONDO:0013572 Keppen-Lubinsky syndrome skos:exactMatch UMLS:C3279800 semapv:UnspecifiedMatching MONDO:0013573 cranioectodermal dysplasia 3 skos:exactMatch DOID:0080805 cranioectodermal dysplasia 3 semapv:UnspecifiedMatching MONDO:0013573 cranioectodermal dysplasia 3 skos:exactMatch MEDGEN:481437 semapv:UnspecifiedMatching MONDO:0013573 cranioectodermal dysplasia 3 skos:exactMatch OMIM:614099 cranioectodermal dysplasia 3 semapv:UnspecifiedMatching MONDO:0013573 cranioectodermal dysplasia 3 skos:exactMatch UMLS:C3279807 semapv:UnspecifiedMatching MONDO:0013574 cutis laxa - Marfanoid syndrome skos:exactMatch MEDGEN:96594 semapv:UnspecifiedMatching MONDO:0013574 cutis laxa - Marfanoid syndrome skos:exactMatch OMIM:614100 cutis laxa, neonatal, with marfanoid phenotype semapv:UnspecifiedMatching MONDO:0013574 cutis laxa - Marfanoid syndrome skos:exactMatch Orphanet:171719 Cutis laxa-Marfanoid syndrome semapv:UnspecifiedMatching MONDO:0013574 cutis laxa - Marfanoid syndrome skos:exactMatch SCTID:254221009 semapv:UnspecifiedMatching MONDO:0013574 cutis laxa - Marfanoid syndrome skos:exactMatch UMLS:C0432335 semapv:UnspecifiedMatching MONDO:0013574 cutis laxa - Marfanoid syndrome skos:exactMatch icd11.foundation:467492754 Cutis laxa - Marfanoid syndrome semapv:UnspecifiedMatching MONDO:0013574 cutis laxa - Marfanoid syndrome skos:exactMatch mesh:C563639 semapv:UnspecifiedMatching MONDO:0013575 plasma fibronectin deficiency skos:exactMatch MEDGEN:436433 semapv:UnspecifiedMatching MONDO:0013575 plasma fibronectin deficiency skos:exactMatch OMIM:614101 plasma fibronectin deficiency semapv:UnspecifiedMatching MONDO:0013575 plasma fibronectin deficiency skos:exactMatch UMLS:C2675436 semapv:UnspecifiedMatching MONDO:0013576 recurrent infections associated with rare immunoglobulin isotypes deficiency skos:exactMatch MEDGEN:481454 semapv:UnspecifiedMatching MONDO:0013576 recurrent infections associated with rare immunoglobulin isotypes deficiency skos:exactMatch OMIM:614102 immunoglobulin kappa light chain deficiency semapv:UnspecifiedMatching MONDO:0013576 recurrent infections associated with rare immunoglobulin isotypes deficiency skos:exactMatch Orphanet:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency semapv:UnspecifiedMatching MONDO:0013576 recurrent infections associated with rare immunoglobulin isotypes deficiency skos:exactMatch UMLS:C3279824 semapv:UnspecifiedMatching MONDO:0013576 recurrent infections associated with rare immunoglobulin isotypes deficiency skos:exactMatch mesh:C564131 semapv:UnspecifiedMatching MONDO:0013577 Lipedema skos:exactMatch MEDGEN:451048 semapv:UnspecifiedMatching MONDO:0013577 Lipedema skos:exactMatch OMIM:614103 lipedema semapv:UnspecifiedMatching MONDO:0013577 Lipedema skos:exactMatch SCTID:234102003 semapv:UnspecifiedMatching MONDO:0013577 Lipedema skos:exactMatch UMLS:C0398370 semapv:UnspecifiedMatching MONDO:0013577 Lipedema skos:exactMatch mesh:D065134 semapv:UnspecifiedMatching MONDO:0013578 DYRK1A-related intellectual disability syndrome skos:exactMatch DOID:0070037 autosomal dominant intellectual developmental disorder 7 semapv:UnspecifiedMatching MONDO:0013578 DYRK1A-related intellectual disability syndrome skos:exactMatch MEDGEN:1799566 semapv:UnspecifiedMatching MONDO:0013578 DYRK1A-related intellectual disability syndrome skos:exactMatch OMIM:614104 intellectual developmental disorder, autosomal dominant 7 semapv:UnspecifiedMatching MONDO:0013578 DYRK1A-related intellectual disability syndrome skos:exactMatch Orphanet:464306 DYRK1A-related intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0013578 DYRK1A-related intellectual disability syndrome skos:exactMatch UMLS:C5568143 semapv:UnspecifiedMatching MONDO:0013579 methylmalonate semialdehyde dehydrogenase deficiency skos:exactMatch MEDGEN:481470 semapv:UnspecifiedMatching MONDO:0013579 methylmalonate semialdehyde dehydrogenase deficiency skos:exactMatch OMIM:614105 methylmalonate semialdehyde dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0013579 methylmalonate semialdehyde dehydrogenase deficiency skos:exactMatch Orphanet:289307 Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0013579 methylmalonate semialdehyde dehydrogenase deficiency skos:exactMatch UMLS:C3279840 semapv:UnspecifiedMatching MONDO:0013579 methylmalonate semialdehyde dehydrogenase deficiency skos:exactMatch icd11.foundation:1700759193 Methylmalonate semialdehyde dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0013579 methylmalonate semialdehyde dehydrogenase deficiency skos:exactMatch mesh:C566402 semapv:UnspecifiedMatching MONDO:0013580 pyruvate dehydrogenase E1-beta deficiency skos:exactMatch MEDGEN:481471 semapv:UnspecifiedMatching MONDO:0013580 pyruvate dehydrogenase E1-beta deficiency skos:exactMatch OMIM:614111 pyruvate dehydrogenase e1-beta deficiency semapv:UnspecifiedMatching MONDO:0013580 pyruvate dehydrogenase E1-beta deficiency skos:exactMatch Orphanet:255138 Pyruvate dehydrogenase E1-beta deficiency semapv:UnspecifiedMatching MONDO:0013580 pyruvate dehydrogenase E1-beta deficiency skos:exactMatch UMLS:C3279841 semapv:UnspecifiedMatching MONDO:0013580 pyruvate dehydrogenase E1-beta deficiency skos:exactMatch mesh:C566729 semapv:UnspecifiedMatching MONDO:0013581 intellectual disability, autosomal dominant 2 skos:exactMatch DOID:0070032 autosomal dominant intellectual developmental disorder 2 semapv:UnspecifiedMatching MONDO:0013581 intellectual disability, autosomal dominant 2 skos:exactMatch MEDGEN:481472 semapv:UnspecifiedMatching MONDO:0013581 intellectual disability, autosomal dominant 2 skos:exactMatch OMIM:614113 intellectual developmental disorder, autosomal dominant 2 semapv:UnspecifiedMatching MONDO:0013581 intellectual disability, autosomal dominant 2 skos:exactMatch UMLS:C3279842 semapv:UnspecifiedMatching MONDO:0013582 mosaic variegated aneuploidy syndrome 2 skos:exactMatch DOID:0080142 mosaic variegated aneuploidy syndrome 2 semapv:UnspecifiedMatching MONDO:0013582 mosaic variegated aneuploidy syndrome 2 skos:exactMatch MEDGEN:481473 semapv:UnspecifiedMatching MONDO:0013582 mosaic variegated aneuploidy syndrome 2 skos:exactMatch NCIT:C168989 Mosaic Variegated Aneuploidy Syndrome 2 semapv:UnspecifiedMatching MONDO:0013582 mosaic variegated aneuploidy syndrome 2 skos:exactMatch OMIM:614114 mosaic variegated aneuploidy syndrome 2 semapv:UnspecifiedMatching MONDO:0013582 mosaic variegated aneuploidy syndrome 2 skos:exactMatch UMLS:C3279843 semapv:UnspecifiedMatching MONDO:0013583 occipital pachygyria and polymicrogyria skos:exactMatch MEDGEN:481505 semapv:UnspecifiedMatching MONDO:0013583 occipital pachygyria and polymicrogyria skos:exactMatch OMIM:614115 cortical malformations, occipital semapv:UnspecifiedMatching MONDO:0013583 occipital pachygyria and polymicrogyria skos:exactMatch Orphanet:280640 Occipital pachygyria and polymicrogyria semapv:UnspecifiedMatching MONDO:0013583 occipital pachygyria and polymicrogyria skos:exactMatch UMLS:C3279875 semapv:UnspecifiedMatching MONDO:0013584 hereditary sensory neuropathy-deafness-dementia syndrome skos:exactMatch DOID:0070158 hereditary sensory neuropathy type 1E semapv:UnspecifiedMatching MONDO:0013584 hereditary sensory neuropathy-deafness-dementia syndrome skos:exactMatch MEDGEN:481515 semapv:UnspecifiedMatching MONDO:0013584 hereditary sensory neuropathy-deafness-dementia syndrome skos:exactMatch OMIM:614116 neuropathy, hereditary sensory, type 1e semapv:UnspecifiedMatching MONDO:0013584 hereditary sensory neuropathy-deafness-dementia syndrome skos:exactMatch Orphanet:456318 Hereditary sensory neuropathy-deafness-dementia syndrome semapv:UnspecifiedMatching MONDO:0013584 hereditary sensory neuropathy-deafness-dementia syndrome skos:exactMatch UMLS:C3279885 semapv:UnspecifiedMatching MONDO:0013584 hereditary sensory neuropathy-deafness-dementia syndrome skos:exactMatch mesh:C580162 semapv:UnspecifiedMatching MONDO:0013585 hydrolethalus syndrome 2 skos:exactMatch DOID:0111356 hydrolethalus syndrome 2 semapv:UnspecifiedMatching MONDO:0013585 hydrolethalus syndrome 2 skos:exactMatch MEDGEN:481529 semapv:UnspecifiedMatching MONDO:0013585 hydrolethalus syndrome 2 skos:exactMatch OMIM:614120 hydrolethalus syndrome 2 semapv:UnspecifiedMatching MONDO:0013585 hydrolethalus syndrome 2 skos:exactMatch UMLS:C3279899 semapv:UnspecifiedMatching MONDO:0013586 obsolete Chitotriosidase deficiency skos:exactMatch OMIM:614122 chitotriosidase deficiency semapv:UnspecifiedMatching MONDO:0013587 glycogen storage disease due to lactate dehydrogenase H-subunit deficiency skos:exactMatch MEDGEN:481534 semapv:UnspecifiedMatching MONDO:0013587 glycogen storage disease due to lactate dehydrogenase H-subunit deficiency skos:exactMatch OMIM:614128 lactate dehydrogenase B deficiency semapv:UnspecifiedMatching MONDO:0013587 glycogen storage disease due to lactate dehydrogenase H-subunit deficiency skos:exactMatch Orphanet:284435 Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency semapv:UnspecifiedMatching MONDO:0013587 glycogen storage disease due to lactate dehydrogenase H-subunit deficiency skos:exactMatch UMLS:C3279904 semapv:UnspecifiedMatching MONDO:0013587 glycogen storage disease due to lactate dehydrogenase H-subunit deficiency skos:exactMatch mesh:C563641 semapv:UnspecifiedMatching MONDO:0013588 Perrault syndrome 3 skos:exactMatch MEDGEN:814744 semapv:UnspecifiedMatching MONDO:0013588 Perrault syndrome 3 skos:exactMatch OMIM:614129 perrault syndrome 3 semapv:UnspecifiedMatching MONDO:0013588 Perrault syndrome 3 skos:exactMatch UMLS:C3808414 semapv:UnspecifiedMatching MONDO:0013589 focal segmental glomerulosclerosis 6 skos:exactMatch DOID:0111131 focal segmental glomerulosclerosis 6 semapv:UnspecifiedMatching MONDO:0013589 focal segmental glomerulosclerosis 6 skos:exactMatch MEDGEN:481535 semapv:UnspecifiedMatching MONDO:0013589 focal segmental glomerulosclerosis 6 skos:exactMatch OMIM:614131 focal segmental glomerulosclerosis 6 semapv:UnspecifiedMatching MONDO:0013589 focal segmental glomerulosclerosis 6 skos:exactMatch UMLS:C3279905 semapv:UnspecifiedMatching MONDO:0013590 Stickler syndrome, type 4 skos:exactMatch MEDGEN:481571 semapv:UnspecifiedMatching MONDO:0013590 Stickler syndrome, type 4 skos:exactMatch OMIM:614134 stickler syndrome, type 4 semapv:UnspecifiedMatching MONDO:0013590 Stickler syndrome, type 4 skos:exactMatch UMLS:C3279941 semapv:UnspecifiedMatching MONDO:0013591 epiphyseal dysplasia, multiple, 6 skos:exactMatch DOID:0070301 multiple epiphyseal dysplasia 6 semapv:UnspecifiedMatching MONDO:0013591 epiphyseal dysplasia, multiple, 6 skos:exactMatch MEDGEN:436517 semapv:UnspecifiedMatching MONDO:0013591 epiphyseal dysplasia, multiple, 6 skos:exactMatch OMIM:614135 epiphyseal dysplasia, multiple, 6 semapv:UnspecifiedMatching MONDO:0013591 epiphyseal dysplasia, multiple, 6 skos:exactMatch UMLS:C2675767 semapv:UnspecifiedMatching MONDO:0013592 nonsyndromic congenital nail disorder 9 skos:exactMatch DOID:0080087 nonsyndromic congenital nail disorder 9 semapv:UnspecifiedMatching MONDO:0013592 nonsyndromic congenital nail disorder 9 skos:exactMatch MEDGEN:481577 semapv:UnspecifiedMatching MONDO:0013592 nonsyndromic congenital nail disorder 9 skos:exactMatch OMIM:614149 nail disorder, nonsyndromic congenital, 9 semapv:UnspecifiedMatching MONDO:0013592 nonsyndromic congenital nail disorder 9 skos:exactMatch SCTID:87065009 semapv:UnspecifiedMatching MONDO:0013592 nonsyndromic congenital nail disorder 9 skos:exactMatch UMLS:C3279947 semapv:UnspecifiedMatching MONDO:0013593 autosomal dominant nonsyndromic hearing loss 64 skos:exactMatch DOID:0110585 autosomal dominant nonsyndromic deafness 64 semapv:UnspecifiedMatching MONDO:0013593 autosomal dominant nonsyndromic hearing loss 64 skos:exactMatch MEDGEN:481578 semapv:UnspecifiedMatching MONDO:0013593 autosomal dominant nonsyndromic hearing loss 64 skos:exactMatch OMIM:614152 deafness, autosomal dominant 64 semapv:UnspecifiedMatching MONDO:0013593 autosomal dominant nonsyndromic hearing loss 64 skos:exactMatch UMLS:C3279948 semapv:UnspecifiedMatching MONDO:0013594 spinocerebellar ataxia type 36 skos:exactMatch DOID:0050983 spinocerebellar ataxia 36 semapv:UnspecifiedMatching MONDO:0013594 spinocerebellar ataxia type 36 skos:exactMatch MEDGEN:483339 semapv:UnspecifiedMatching MONDO:0013594 spinocerebellar ataxia type 36 skos:exactMatch NCIT:C148316 Spinocerebellar Ataxia Type 36 semapv:UnspecifiedMatching MONDO:0013594 spinocerebellar ataxia type 36 skos:exactMatch OMIM:614153 spinocerebellar ataxia 36 semapv:UnspecifiedMatching MONDO:0013594 spinocerebellar ataxia type 36 skos:exactMatch Orphanet:276198 Spinocerebellar ataxia type 36 semapv:UnspecifiedMatching MONDO:0013594 spinocerebellar ataxia type 36 skos:exactMatch SCTID:711158005 semapv:UnspecifiedMatching MONDO:0013594 spinocerebellar ataxia type 36 skos:exactMatch UMLS:C3472711 semapv:UnspecifiedMatching MONDO:0013594 spinocerebellar ataxia type 36 skos:exactMatch icd11.foundation:1544814018 Spinocerebellar ataxia type 36 semapv:UnspecifiedMatching MONDO:0013595 hyperbiliverdinemia skos:exactMatch MEDGEN:481594 semapv:UnspecifiedMatching MONDO:0013595 hyperbiliverdinemia skos:exactMatch OMIM:614156 hyperbiliverdinemia semapv:UnspecifiedMatching MONDO:0013595 hyperbiliverdinemia skos:exactMatch Orphanet:276405 Hyperbiliverdinemia semapv:UnspecifiedMatching MONDO:0013595 hyperbiliverdinemia skos:exactMatch UMLS:C3279964 semapv:UnspecifiedMatching MONDO:0013596 obsolete nonsyndromic congenital nail disorder 10 skos:exactMatch OMIM:614157 semapv:UnspecifiedMatching MONDO:0013597 platelet-type bleeding disorder 14 skos:exactMatch DOID:0111047 platelet-type bleeding disorder 14 semapv:UnspecifiedMatching MONDO:0013597 platelet-type bleeding disorder 14 skos:exactMatch MEDGEN:98307 semapv:UnspecifiedMatching MONDO:0013597 platelet-type bleeding disorder 14 skos:exactMatch OMIM:614158 bleeding disorder, platelet-type, 14 semapv:UnspecifiedMatching MONDO:0013597 platelet-type bleeding disorder 14 skos:exactMatch SCTID:234477002 semapv:UnspecifiedMatching MONDO:0013597 platelet-type bleeding disorder 14 skos:exactMatch UMLS:C0398635 semapv:UnspecifiedMatching MONDO:0013597 platelet-type bleeding disorder 14 skos:exactMatch mesh:C562866 semapv:UnspecifiedMatching MONDO:0013598 myostatin-related muscle hypertrophy skos:exactMatch DOID:0111072 myostatin-related muscle hypertrophy semapv:UnspecifiedMatching MONDO:0013598 myostatin-related muscle hypertrophy skos:exactMatch MEDGEN:418994 semapv:UnspecifiedMatching MONDO:0013598 myostatin-related muscle hypertrophy skos:exactMatch OMIM:614160 muscle hypertrophy semapv:UnspecifiedMatching MONDO:0013598 myostatin-related muscle hypertrophy skos:exactMatch SCTID:699185005 semapv:UnspecifiedMatching MONDO:0013598 myostatin-related muscle hypertrophy skos:exactMatch UMLS:C2931112 semapv:UnspecifiedMatching MONDO:0013598 myostatin-related muscle hypertrophy skos:exactMatch mesh:C536106 semapv:UnspecifiedMatching MONDO:0013599 autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome skos:exactMatch DOID:0111946 immunodeficiency 31C semapv:UnspecifiedMatching MONDO:0013599 autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome skos:exactMatch MEDGEN:481620 semapv:UnspecifiedMatching MONDO:0013599 autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome skos:exactMatch OMIM:614162 immunodeficiency 31c semapv:UnspecifiedMatching MONDO:0013599 autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome skos:exactMatch Orphanet:391487 STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome semapv:UnspecifiedMatching MONDO:0013599 autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome skos:exactMatch UMLS:C3279990 semapv:UnspecifiedMatching MONDO:0013600 insomnia skos:exactMatch EFO:0004698 semapv:UnspecifiedMatching MONDO:0013600 insomnia skos:exactMatch ICD10CM:G47.0 Insomnia semapv:UnspecifiedMatching MONDO:0013600 insomnia skos:exactMatch ICD10WHO:G47.0 Disorders of initiating and maintaining sleep [insomnias] semapv:UnspecifiedMatching MONDO:0013600 insomnia skos:exactMatch MEDGEN:214589 semapv:UnspecifiedMatching MONDO:0013600 insomnia skos:exactMatch NCIT:C28286 Insomnia semapv:UnspecifiedMatching MONDO:0013600 insomnia skos:exactMatch SCTID:193462001 semapv:UnspecifiedMatching MONDO:0013600 insomnia skos:exactMatch UMLS:C0917801 semapv:UnspecifiedMatching MONDO:0013600 insomnia skos:exactMatch mesh:D007319 semapv:UnspecifiedMatching MONDO:0013601 gluthathione peroxidase deficiency skos:exactMatch MEDGEN:473098 semapv:UnspecifiedMatching MONDO:0013601 gluthathione peroxidase deficiency skos:exactMatch OMIM:614164 glutathione peroxidase deficiency semapv:UnspecifiedMatching MONDO:0013601 gluthathione peroxidase deficiency skos:exactMatch SCTID:234590006 semapv:UnspecifiedMatching MONDO:0013601 gluthathione peroxidase deficiency skos:exactMatch UMLS:C0398747 semapv:UnspecifiedMatching MONDO:0013602 pheochromocytoma/paraganglioma syndrome 5 skos:exactMatch DOID:0061220 pheochromocytoma/paraganglioma syndrome 5 semapv:UnspecifiedMatching MONDO:0013602 pheochromocytoma/paraganglioma syndrome 5 skos:exactMatch MEDGEN:481622 semapv:UnspecifiedMatching MONDO:0013602 pheochromocytoma/paraganglioma syndrome 5 skos:exactMatch OMIM:614165 pheochromocytoma/paraganglioma syndrome 5 semapv:UnspecifiedMatching MONDO:0013602 pheochromocytoma/paraganglioma syndrome 5 skos:exactMatch UMLS:C3279992 semapv:UnspecifiedMatching MONDO:0013603 myopia 20, autosomal dominant skos:exactMatch MEDGEN:481626 semapv:UnspecifiedMatching MONDO:0013603 myopia 20, autosomal dominant skos:exactMatch OMIM:614166 myopia 20, autosomal dominant semapv:UnspecifiedMatching MONDO:0013603 myopia 20, autosomal dominant skos:exactMatch UMLS:C3279996 semapv:UnspecifiedMatching MONDO:0013604 myopia 21, autosomal dominant skos:exactMatch MEDGEN:481627 semapv:UnspecifiedMatching MONDO:0013604 myopia 21, autosomal dominant skos:exactMatch OMIM:614167 myopia 21, autosomal dominant semapv:UnspecifiedMatching MONDO:0013604 myopia 21, autosomal dominant skos:exactMatch UMLS:C3279997 semapv:UnspecifiedMatching MONDO:0013605 brittle cornea syndrome 2 skos:exactMatch DOID:0080729 brittle cornea syndrome 2 semapv:UnspecifiedMatching MONDO:0013605 brittle cornea syndrome 2 skos:exactMatch MEDGEN:481641 semapv:UnspecifiedMatching MONDO:0013605 brittle cornea syndrome 2 skos:exactMatch OMIM:614170 brittle cornea syndrome 2 semapv:UnspecifiedMatching MONDO:0013605 brittle cornea syndrome 2 skos:exactMatch UMLS:C3280011 semapv:UnspecifiedMatching MONDO:0013606 Hermansky-Pudlak syndrome 9 skos:exactMatch DOID:0060547 Hermansky-Pudlak syndrome 9 semapv:UnspecifiedMatching MONDO:0013606 Hermansky-Pudlak syndrome 9 skos:exactMatch MEDGEN:481656 semapv:UnspecifiedMatching MONDO:0013606 Hermansky-Pudlak syndrome 9 skos:exactMatch OMIM:614171 hermansky-pudlak syndrome 9 semapv:UnspecifiedMatching MONDO:0013606 Hermansky-Pudlak syndrome 9 skos:exactMatch UMLS:C3280026 semapv:UnspecifiedMatching MONDO:0013607 monocytopenia with susceptibility to infections skos:exactMatch DOID:0111947 immunodeficiency 21 semapv:UnspecifiedMatching MONDO:0013607 monocytopenia with susceptibility to infections skos:exactMatch MEDGEN:481660 semapv:UnspecifiedMatching MONDO:0013607 monocytopenia with susceptibility to infections skos:exactMatch OMIM:614172 immunodeficiency 21 semapv:UnspecifiedMatching MONDO:0013607 monocytopenia with susceptibility to infections skos:exactMatch Orphanet:228423 GATA2 deficiency spectrum semapv:UnspecifiedMatching MONDO:0013607 monocytopenia with susceptibility to infections skos:exactMatch UMLS:C3280030 semapv:UnspecifiedMatching MONDO:0013607 monocytopenia with susceptibility to infections skos:exactMatch icd11.foundation:1077753382 Monocytopenia with susceptibility to infections semapv:UnspecifiedMatching MONDO:0013608 Joubert syndrome 13 skos:exactMatch DOID:0110982 Joubert syndrome 13 semapv:UnspecifiedMatching MONDO:0013608 Joubert syndrome 13 skos:exactMatch MEDGEN:481661 semapv:UnspecifiedMatching MONDO:0013608 Joubert syndrome 13 skos:exactMatch OMIM:614173 joubert syndrome 13 semapv:UnspecifiedMatching MONDO:0013608 Joubert syndrome 13 skos:exactMatch UMLS:C3280031 semapv:UnspecifiedMatching MONDO:0013609 Meckel syndrome, type 10 skos:exactMatch MEDGEN:481666 semapv:UnspecifiedMatching MONDO:0013609 Meckel syndrome, type 10 skos:exactMatch OMIM:614175 meckel syndrome, type 10 semapv:UnspecifiedMatching MONDO:0013609 Meckel syndrome, type 10 skos:exactMatch UMLS:C3280036 semapv:UnspecifiedMatching MONDO:0013610 retinitis pigmentosa 61 skos:exactMatch DOID:0110373 retinitis pigmentosa 61 semapv:UnspecifiedMatching MONDO:0013610 retinitis pigmentosa 61 skos:exactMatch MEDGEN:481671 semapv:UnspecifiedMatching MONDO:0013610 retinitis pigmentosa 61 skos:exactMatch OMIM:614180 retinitis pigmentosa 61 semapv:UnspecifiedMatching MONDO:0013610 retinitis pigmentosa 61 skos:exactMatch UMLS:C3280041 semapv:UnspecifiedMatching MONDO:0013611 retinitis pigmentosa 62 skos:exactMatch DOID:0110380 retinitis pigmentosa 62 semapv:UnspecifiedMatching MONDO:0013611 retinitis pigmentosa 62 skos:exactMatch MEDGEN:481672 semapv:UnspecifiedMatching MONDO:0013611 retinitis pigmentosa 62 skos:exactMatch OMIM:614181 retinitis pigmentosa 62 semapv:UnspecifiedMatching MONDO:0013611 retinitis pigmentosa 62 skos:exactMatch UMLS:C3280042 semapv:UnspecifiedMatching MONDO:0013612 geleophysic dysplasia 2 skos:exactMatch DOID:0111726 geleophysic dysplasia 2 semapv:UnspecifiedMatching MONDO:0013612 geleophysic dysplasia 2 skos:exactMatch MEDGEN:481684 semapv:UnspecifiedMatching MONDO:0013612 geleophysic dysplasia 2 skos:exactMatch OMIM:614185 geleophysic dysplasia 2 semapv:UnspecifiedMatching MONDO:0013612 geleophysic dysplasia 2 skos:exactMatch UMLS:C3280054 semapv:UnspecifiedMatching MONDO:0013613 Leber congenital amaurosis 16 skos:exactMatch DOID:0110118 Leber congenital amaurosis 16 semapv:UnspecifiedMatching MONDO:0013613 Leber congenital amaurosis 16 skos:exactMatch MEDGEN:481692 semapv:UnspecifiedMatching MONDO:0013613 Leber congenital amaurosis 16 skos:exactMatch OMIM:614186 leber congenital amaurosis 16 semapv:UnspecifiedMatching MONDO:0013613 Leber congenital amaurosis 16 skos:exactMatch UMLS:C3280062 semapv:UnspecifiedMatching MONDO:0013614 hypertelorism-preauricular sinus-punctual pits-deafness syndrome skos:exactMatch MEDGEN:1659106 semapv:UnspecifiedMatching MONDO:0013614 hypertelorism-preauricular sinus-punctual pits-deafness syndrome skos:exactMatch OMIM:614187 hypertelorism, preauricular sinus, punctal pits, and deafness semapv:UnspecifiedMatching MONDO:0013614 hypertelorism-preauricular sinus-punctual pits-deafness syndrome skos:exactMatch Orphanet:293958 Hypertelorism-preauricular sinus-punctual pits-deafness syndrome semapv:UnspecifiedMatching MONDO:0013614 hypertelorism-preauricular sinus-punctual pits-deafness syndrome skos:exactMatch UMLS:C4751125 semapv:UnspecifiedMatching MONDO:0013615 craniosynostosis and dental anomalies skos:exactMatch MEDGEN:481703 semapv:UnspecifiedMatching MONDO:0013615 craniosynostosis and dental anomalies skos:exactMatch OMIM:614188 craniosynostosis and dental anomalies semapv:UnspecifiedMatching MONDO:0013615 craniosynostosis and dental anomalies skos:exactMatch Orphanet:284149 Craniosynostosis-dental anomalies semapv:UnspecifiedMatching MONDO:0013615 craniosynostosis and dental anomalies skos:exactMatch UMLS:C3280073 semapv:UnspecifiedMatching MONDO:0013616 pigmented nodular adrenocortical disease, primary, 3 skos:exactMatch DOID:0070548 primary pigmented nodular adrenocortical disease 3 semapv:UnspecifiedMatching MONDO:0013616 pigmented nodular adrenocortical disease, primary, 3 skos:exactMatch MEDGEN:481724 semapv:UnspecifiedMatching MONDO:0013616 pigmented nodular adrenocortical disease, primary, 3 skos:exactMatch OMIM:614190 pigmented nodular adrenocortical disease, primary, 3 semapv:UnspecifiedMatching MONDO:0013616 pigmented nodular adrenocortical disease, primary, 3 skos:exactMatch UMLS:C3280094 semapv:UnspecifiedMatching MONDO:0013617 obsolete overgrowth-macrocephaly-facial dysmorphism syndrome skos:exactMatch OMIM:614192 semapv:UnspecifiedMatching MONDO:0013618 craniofacial anomalies and anterior segment dysgenesis syndrome skos:exactMatch MEDGEN:481729 semapv:UnspecifiedMatching MONDO:0013618 craniofacial anomalies and anterior segment dysgenesis syndrome skos:exactMatch OMIM:614195 craniofacial anomalies and anterior segment dysgenesis syndrome semapv:UnspecifiedMatching MONDO:0013618 craniofacial anomalies and anterior segment dysgenesis syndrome skos:exactMatch UMLS:C3280099 semapv:UnspecifiedMatching MONDO:0013619 nephrotic syndrome, type 6 skos:exactMatch DOID:0080384 nephrotic syndrome type 6 semapv:UnspecifiedMatching MONDO:0013619 nephrotic syndrome, type 6 skos:exactMatch MEDGEN:481730 semapv:UnspecifiedMatching MONDO:0013619 nephrotic syndrome, type 6 skos:exactMatch OMIM:614196 nephrotic syndrome, type 6 semapv:UnspecifiedMatching MONDO:0013619 nephrotic syndrome, type 6 skos:exactMatch UMLS:C3280100 semapv:UnspecifiedMatching MONDO:0013620 congenital myasthenic syndrome 16 skos:exactMatch DOID:0110682 congenital myasthenic syndrome 16 semapv:UnspecifiedMatching MONDO:0013620 congenital myasthenic syndrome 16 skos:exactMatch MEDGEN:481742 semapv:UnspecifiedMatching MONDO:0013620 congenital myasthenic syndrome 16 skos:exactMatch OMIM:614198 myasthenic syndrome, congenital, 16 semapv:UnspecifiedMatching MONDO:0013620 congenital myasthenic syndrome 16 skos:exactMatch UMLS:C3280112 semapv:UnspecifiedMatching MONDO:0013621 LAMB2-related infantile-onset nephrotic syndrome skos:exactMatch DOID:0080380 nephrotic syndrome type 5 semapv:UnspecifiedMatching MONDO:0013621 LAMB2-related infantile-onset nephrotic syndrome skos:exactMatch MEDGEN:481743 semapv:UnspecifiedMatching MONDO:0013621 LAMB2-related infantile-onset nephrotic syndrome skos:exactMatch OMIM:614199 nephrotic syndrome, type 5, with or without ocular abnormalities semapv:UnspecifiedMatching MONDO:0013621 LAMB2-related infantile-onset nephrotic syndrome skos:exactMatch UMLS:C3280113 semapv:UnspecifiedMatching MONDO:0013621 LAMB2-related infantile-onset nephrotic syndrome skos:exactMatch mesh:C565405 semapv:UnspecifiedMatching MONDO:0013622 platelet-type bleeding disorder 9 skos:exactMatch DOID:0111045 platelet-type bleeding disorder 9 semapv:UnspecifiedMatching MONDO:0013622 platelet-type bleeding disorder 9 skos:exactMatch MEDGEN:481744 semapv:UnspecifiedMatching MONDO:0013622 platelet-type bleeding disorder 9 skos:exactMatch OMIM:614200 bleeding disorder, platelet-type, 9 semapv:UnspecifiedMatching MONDO:0013622 platelet-type bleeding disorder 9 skos:exactMatch Orphanet:98886 Bleeding diathesis due to integrin alpha2-beta1 deficiency semapv:UnspecifiedMatching MONDO:0013622 platelet-type bleeding disorder 9 skos:exactMatch UMLS:C3280114 semapv:UnspecifiedMatching MONDO:0013622 platelet-type bleeding disorder 9 skos:exactMatch mesh:C566000 semapv:UnspecifiedMatching MONDO:0013623 platelet-type bleeding disorder 11 skos:exactMatch DOID:0111057 platelet-type bleeding disorder 11 semapv:UnspecifiedMatching MONDO:0013623 platelet-type bleeding disorder 11 skos:exactMatch MEDGEN:481750 semapv:UnspecifiedMatching MONDO:0013623 platelet-type bleeding disorder 11 skos:exactMatch OMIM:614201 bleeding disorder, platelet-type, 11 semapv:UnspecifiedMatching MONDO:0013623 platelet-type bleeding disorder 11 skos:exactMatch Orphanet:98885 Bleeding diathesis due to glycoprotein VI deficiency semapv:UnspecifiedMatching MONDO:0013623 platelet-type bleeding disorder 11 skos:exactMatch SCTID:765977002 semapv:UnspecifiedMatching MONDO:0013623 platelet-type bleeding disorder 11 skos:exactMatch UMLS:C3280120 semapv:UnspecifiedMatching MONDO:0013624 Rafiq syndrome skos:exactMatch DOID:0081097 Rafiq syndrome semapv:UnspecifiedMatching MONDO:0013624 Rafiq syndrome skos:exactMatch MEDGEN:481757 semapv:UnspecifiedMatching MONDO:0013624 Rafiq syndrome skos:exactMatch OMIM:614202 rafiq syndrome semapv:UnspecifiedMatching MONDO:0013624 Rafiq syndrome skos:exactMatch UMLS:C3280127 semapv:UnspecifiedMatching MONDO:0013625 Parkinson disease 17 skos:exactMatch DOID:0060897 Parkinson's disease 17 semapv:UnspecifiedMatching MONDO:0013625 Parkinson disease 17 skos:exactMatch MEDGEN:481763 semapv:UnspecifiedMatching MONDO:0013625 Parkinson disease 17 skos:exactMatch OMIM:614203 parkinson disease 17 semapv:UnspecifiedMatching MONDO:0013625 Parkinson disease 17 skos:exactMatch UMLS:C3280133 semapv:UnspecifiedMatching MONDO:0013626 psoriasis 14, pustular skos:exactMatch DOID:0080474 pustular psoriasis 14 semapv:UnspecifiedMatching MONDO:0013626 psoriasis 14, pustular skos:exactMatch MEDGEN:581114 semapv:UnspecifiedMatching MONDO:0013626 psoriasis 14, pustular skos:exactMatch NCIT:C119057 Deficiency of the Interleukin-36 Receptor Antagonist semapv:UnspecifiedMatching MONDO:0013626 psoriasis 14, pustular skos:exactMatch OMIM:614204 psoriasis 14, pustular semapv:UnspecifiedMatching MONDO:0013626 psoriasis 14, pustular skos:exactMatch Orphanet:163931 Acrodermatitis continua of Hallopeau semapv:UnspecifiedMatching MONDO:0013626 psoriasis 14, pustular skos:exactMatch Orphanet:404546 DITRA semapv:UnspecifiedMatching MONDO:0013626 psoriasis 14, pustular skos:exactMatch SCTID:83839005 semapv:UnspecifiedMatching MONDO:0013626 psoriasis 14, pustular skos:exactMatch UMLS:C0392439 semapv:UnspecifiedMatching MONDO:0013627 3M syndrome 3 skos:exactMatch MEDGEN:481776 semapv:UnspecifiedMatching MONDO:0013627 3M syndrome 3 skos:exactMatch OMIM:614205 three m syndrome 3 semapv:UnspecifiedMatching MONDO:0013627 3M syndrome 3 skos:exactMatch UMLS:C3280146 semapv:UnspecifiedMatching MONDO:0013628 hyperphosphatasia with intellectual disability syndrome 3 skos:exactMatch DOID:0070435 hyperphosphatasia with impaired intellectual development syndrome 3 semapv:UnspecifiedMatching MONDO:0013628 hyperphosphatasia with intellectual disability syndrome 3 skos:exactMatch MEDGEN:481783 semapv:UnspecifiedMatching MONDO:0013628 hyperphosphatasia with intellectual disability syndrome 3 skos:exactMatch OMIM:614207 hyperphosphatasia with impaired intellectual development syndrome 3 semapv:UnspecifiedMatching MONDO:0013628 hyperphosphatasia with intellectual disability syndrome 3 skos:exactMatch UMLS:C3280153 semapv:UnspecifiedMatching MONDO:0013629 intellectual disability, autosomal recessive 16 skos:exactMatch DOID:0081189 autosomal recessive intellectual developmental disorder 16 semapv:UnspecifiedMatching MONDO:0013629 intellectual disability, autosomal recessive 16 skos:exactMatch MEDGEN:481784 semapv:UnspecifiedMatching MONDO:0013629 intellectual disability, autosomal recessive 16 skos:exactMatch OMIM:614208 intellectual developmental disorder, autosomal recessive 16 semapv:UnspecifiedMatching MONDO:0013629 intellectual disability, autosomal recessive 16 skos:exactMatch UMLS:C3280154 semapv:UnspecifiedMatching MONDO:0013630 Meckel syndrome, type 9 skos:exactMatch MEDGEN:481785 semapv:UnspecifiedMatching MONDO:0013630 Meckel syndrome, type 9 skos:exactMatch OMIM:614209 meckel syndrome, type 9 semapv:UnspecifiedMatching MONDO:0013630 Meckel syndrome, type 9 skos:exactMatch UMLS:C3280155 semapv:UnspecifiedMatching MONDO:0013631 lung cancer susceptibility 5 skos:exactMatch MEDGEN:481786 semapv:UnspecifiedMatching MONDO:0013631 lung cancer susceptibility 5 skos:exactMatch OMIM:614210 lung cancer susceptibility 5 semapv:UnspecifiedMatching MONDO:0013631 lung cancer susceptibility 5 skos:exactMatch UMLS:C3280156 semapv:UnspecifiedMatching MONDO:0013632 autosomal dominant nonsyndromic hearing loss 33 skos:exactMatch DOID:0110562 autosomal dominant nonsyndromic deafness 33 semapv:UnspecifiedMatching MONDO:0013632 autosomal dominant nonsyndromic hearing loss 33 skos:exactMatch MEDGEN:854638 semapv:UnspecifiedMatching MONDO:0013632 autosomal dominant nonsyndromic hearing loss 33 skos:exactMatch OMIM:614211 deafness, autosomal dominant 33 semapv:UnspecifiedMatching MONDO:0013632 autosomal dominant nonsyndromic hearing loss 33 skos:exactMatch UMLS:C3887930 semapv:UnspecifiedMatching MONDO:0013633 encephalopathy, acute, infection-induced, susceptibility to, 4 skos:exactMatch MEDGEN:481790 semapv:UnspecifiedMatching MONDO:0013633 encephalopathy, acute, infection-induced, susceptibility to, 4 skos:exactMatch OMIM:614212 encephalopathy, acute, infection-induced, susceptibility to, 4 semapv:UnspecifiedMatching MONDO:0013633 encephalopathy, acute, infection-induced, susceptibility to, 4 skos:exactMatch UMLS:C3280160 semapv:UnspecifiedMatching MONDO:0013634 neuropathy, hereditary sensory, type 2C skos:exactMatch DOID:0070147 hereditary sensory neuropathy type 2C semapv:UnspecifiedMatching MONDO:0013634 neuropathy, hereditary sensory, type 2C skos:exactMatch MEDGEN:481798 semapv:UnspecifiedMatching MONDO:0013634 neuropathy, hereditary sensory, type 2C skos:exactMatch OMIM:614213 neuropathy, hereditary sensory, type 2c semapv:UnspecifiedMatching MONDO:0013634 neuropathy, hereditary sensory, type 2C skos:exactMatch UMLS:C3280168 semapv:UnspecifiedMatching MONDO:0013635 Adams-Oliver syndrome 2 skos:exactMatch MEDGEN:481812 semapv:UnspecifiedMatching MONDO:0013635 Adams-Oliver syndrome 2 skos:exactMatch OMIM:614219 adams-oliver syndrome 2 semapv:UnspecifiedMatching MONDO:0013635 Adams-Oliver syndrome 2 skos:exactMatch UMLS:C3280182 semapv:UnspecifiedMatching MONDO:0013636 primary biliary cholangitis 4 skos:exactMatch DOID:0070361 primary biliary cholangitis 4 semapv:UnspecifiedMatching MONDO:0013636 primary biliary cholangitis 4 skos:exactMatch MEDGEN:481831 semapv:UnspecifiedMatching MONDO:0013636 primary biliary cholangitis 4 skos:exactMatch OMIM:614220 biliary cirrhosis, primary, 4 semapv:UnspecifiedMatching MONDO:0013636 primary biliary cholangitis 4 skos:exactMatch UMLS:C3280201 semapv:UnspecifiedMatching MONDO:0013637 primary biliary cholangitis 5 skos:exactMatch DOID:0070362 primary biliary cholangitis 5 semapv:UnspecifiedMatching MONDO:0013637 primary biliary cholangitis 5 skos:exactMatch MEDGEN:481832 semapv:UnspecifiedMatching MONDO:0013637 primary biliary cholangitis 5 skos:exactMatch OMIM:614221 biliary cirrhosis, primary, 5 semapv:UnspecifiedMatching MONDO:0013637 primary biliary cholangitis 5 skos:exactMatch UMLS:C3280202 semapv:UnspecifiedMatching MONDO:0013638 Warburg micro syndrome 3 skos:exactMatch DOID:0110718 Warburg micro syndrome 3 semapv:UnspecifiedMatching MONDO:0013638 Warburg micro syndrome 3 skos:exactMatch MEDGEN:481833 semapv:UnspecifiedMatching MONDO:0013638 Warburg micro syndrome 3 skos:exactMatch OMIM:614222 warburg micro syndrome 3 semapv:UnspecifiedMatching MONDO:0013638 Warburg micro syndrome 3 skos:exactMatch UMLS:C3280203 semapv:UnspecifiedMatching MONDO:0013639 narcolepsy 6, susceptibility to skos:exactMatch MEDGEN:481834 semapv:UnspecifiedMatching MONDO:0013639 narcolepsy 6, susceptibility to skos:exactMatch OMIM:614223 narcolepsy 6, susceptibility to semapv:UnspecifiedMatching MONDO:0013639 narcolepsy 6, susceptibility to skos:exactMatch UMLS:C3280204 semapv:UnspecifiedMatching MONDO:0013640 familial retinal arterial macroaneurysm skos:exactMatch MEDGEN:481835 semapv:UnspecifiedMatching MONDO:0013640 familial retinal arterial macroaneurysm skos:exactMatch OMIM:614224 retinal arterial macroaneurysm with supravalvular pulmonic stenosis semapv:UnspecifiedMatching MONDO:0013640 familial retinal arterial macroaneurysm skos:exactMatch Orphanet:284247 Familial retinal arterial macroaneurysm semapv:UnspecifiedMatching MONDO:0013640 familial retinal arterial macroaneurysm skos:exactMatch SCTID:764452004 semapv:UnspecifiedMatching MONDO:0013640 familial retinal arterial macroaneurysm skos:exactMatch UMLS:C3280205 semapv:UnspecifiedMatching MONDO:0013640 familial retinal arterial macroaneurysm skos:exactMatch icd11.foundation:800928909 Familial retinal arterial macroaneurysm semapv:UnspecifiedMatching MONDO:0013641 Warburg micro syndrome 2 skos:exactMatch DOID:0110717 Warburg micro syndrome 2 semapv:UnspecifiedMatching MONDO:0013641 Warburg micro syndrome 2 skos:exactMatch MEDGEN:481844 semapv:UnspecifiedMatching MONDO:0013641 Warburg micro syndrome 2 skos:exactMatch OMIM:614225 warburg micro syndrome 2 semapv:UnspecifiedMatching MONDO:0013641 Warburg micro syndrome 2 skos:exactMatch UMLS:C3280214 semapv:UnspecifiedMatching MONDO:0013642 holoprosencephaly 11 skos:exactMatch DOID:0110877 holoprosencephaly 11 semapv:UnspecifiedMatching MONDO:0013642 holoprosencephaly 11 skos:exactMatch MEDGEN:481845 semapv:UnspecifiedMatching MONDO:0013642 holoprosencephaly 11 skos:exactMatch OMIM:614226 holoprosencephaly 11 semapv:UnspecifiedMatching MONDO:0013642 holoprosencephaly 11 skos:exactMatch UMLS:C3280215 semapv:UnspecifiedMatching MONDO:0013643 hyperuricemic nephropathy, familial juvenile type 3 skos:exactMatch MEDGEN:481846 semapv:UnspecifiedMatching MONDO:0013643 hyperuricemic nephropathy, familial juvenile type 3 skos:exactMatch OMIM:614227 hyperuricemic nephropathy, familial juvenile, 3 semapv:UnspecifiedMatching MONDO:0013643 hyperuricemic nephropathy, familial juvenile type 3 skos:exactMatch UMLS:C3280216 semapv:UnspecifiedMatching MONDO:0013644 Charcot-Marie-Tooth disease axonal type 2O skos:exactMatch DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O semapv:UnspecifiedMatching MONDO:0013644 Charcot-Marie-Tooth disease axonal type 2O skos:exactMatch MEDGEN:481850 semapv:UnspecifiedMatching MONDO:0013644 Charcot-Marie-Tooth disease axonal type 2O skos:exactMatch OMIM:614228 charcot-marie-tooth disease, axonal, type 2o semapv:UnspecifiedMatching MONDO:0013644 Charcot-Marie-Tooth disease axonal type 2O skos:exactMatch Orphanet:284232 Autosomal dominant Charcot-Marie-Tooth disease type 2O semapv:UnspecifiedMatching MONDO:0013644 Charcot-Marie-Tooth disease axonal type 2O skos:exactMatch UMLS:C3280220 semapv:UnspecifiedMatching MONDO:0013645 autosomal recessive spinocerebellar ataxia 11 skos:exactMatch DOID:0080063 autosomal recessive spinocerebellar ataxia 11 semapv:UnspecifiedMatching MONDO:0013645 autosomal recessive spinocerebellar ataxia 11 skos:exactMatch MEDGEN:1681191 semapv:UnspecifiedMatching MONDO:0013645 autosomal recessive spinocerebellar ataxia 11 skos:exactMatch OMIM:614229 spinocerebellar ataxia, autosomal recessive 11 semapv:UnspecifiedMatching MONDO:0013645 autosomal recessive spinocerebellar ataxia 11 skos:exactMatch Orphanet:284271 Autosomal recessive cerebellar ataxia-psychomotor delay syndrome semapv:UnspecifiedMatching MONDO:0013645 autosomal recessive spinocerebellar ataxia 11 skos:exactMatch UMLS:C5190803 semapv:UnspecifiedMatching MONDO:0013646 chromosome 8q21.11 deletion syndrome skos:exactMatch DOID:0060425 chromosome 8q21.11 deletion syndrome semapv:UnspecifiedMatching MONDO:0013646 chromosome 8q21.11 deletion syndrome skos:exactMatch MEDGEN:481861 semapv:UnspecifiedMatching MONDO:0013646 chromosome 8q21.11 deletion syndrome skos:exactMatch OMIM:614230 chromosome 8q21.11 deletion syndrome semapv:UnspecifiedMatching MONDO:0013646 chromosome 8q21.11 deletion syndrome skos:exactMatch Orphanet:284160 8q21.11 microdeletion syndrome semapv:UnspecifiedMatching MONDO:0013646 chromosome 8q21.11 deletion syndrome skos:exactMatch SCTID:718615003 semapv:UnspecifiedMatching MONDO:0013646 chromosome 8q21.11 deletion syndrome skos:exactMatch UMLS:C3280231 semapv:UnspecifiedMatching MONDO:0013648 familial progressive hyperpigmentation skos:exactMatch OMIM:614233 hyperpigmentation, familial progressive, 1 semapv:UnspecifiedMatching MONDO:0013648 familial progressive hyperpigmentation skos:exactMatch Orphanet:79146 Familial progressive hyperpigmentation semapv:UnspecifiedMatching MONDO:0013648 familial progressive hyperpigmentation skos:exactMatch SCTID:715630006 semapv:UnspecifiedMatching MONDO:0013648 familial progressive hyperpigmentation skos:exactMatch icd11.foundation:1808730427 Familial progressive hyperpigmentation semapv:UnspecifiedMatching MONDO:0013649 hypotrichosis 9 skos:exactMatch DOID:0110706 hypotrichosis 9 semapv:UnspecifiedMatching MONDO:0013649 hypotrichosis 9 skos:exactMatch MEDGEN:481882 semapv:UnspecifiedMatching MONDO:0013649 hypotrichosis 9 skos:exactMatch OMIM:614237 hypotrichosis 9 semapv:UnspecifiedMatching MONDO:0013649 hypotrichosis 9 skos:exactMatch UMLS:C3280252 semapv:UnspecifiedMatching MONDO:0013650 hypotrichosis 10 skos:exactMatch DOID:0110707 hypotrichosis 10 semapv:UnspecifiedMatching MONDO:0013650 hypotrichosis 10 skos:exactMatch MEDGEN:481883 semapv:UnspecifiedMatching MONDO:0013650 hypotrichosis 10 skos:exactMatch OMIM:614238 hypotrichosis 10 semapv:UnspecifiedMatching MONDO:0013650 hypotrichosis 10 skos:exactMatch UMLS:C3280253 semapv:UnspecifiedMatching MONDO:0013651 intellectual disability, autosomal recessive 18 skos:exactMatch DOID:0081190 autosomal recessive intellectual developmental disorder 18 semapv:UnspecifiedMatching MONDO:0013651 intellectual disability, autosomal recessive 18 skos:exactMatch MEDGEN:481895 semapv:UnspecifiedMatching MONDO:0013651 intellectual disability, autosomal recessive 18 skos:exactMatch OMIM:614249 intellectual developmental disorder, autosomal recessive 18, with or without epilepsy semapv:UnspecifiedMatching MONDO:0013651 intellectual disability, autosomal recessive 18 skos:exactMatch UMLS:C3280265 semapv:UnspecifiedMatching MONDO:0013652 narcolepsy 7 skos:exactMatch MEDGEN:481896 semapv:UnspecifiedMatching MONDO:0013652 narcolepsy 7 skos:exactMatch OMIM:614250 narcolepsy 7 semapv:UnspecifiedMatching MONDO:0013652 narcolepsy 7 skos:exactMatch UMLS:C3280266 semapv:UnspecifiedMatching MONDO:0013653 Parkinson disease 18, autosomal dominant, susceptibility to skos:exactMatch MEDGEN:481901 semapv:UnspecifiedMatching MONDO:0013653 Parkinson disease 18, autosomal dominant, susceptibility to skos:exactMatch OMIM:614251 parkinson disease 18, autosomal dominant, susceptibility to semapv:UnspecifiedMatching MONDO:0013653 Parkinson disease 18, autosomal dominant, susceptibility to skos:exactMatch UMLS:C3280271 semapv:UnspecifiedMatching MONDO:0013654 aneurysm, intracranial berry, 11 skos:exactMatch DOID:0080974 intracranial berry aneurysm 11 semapv:UnspecifiedMatching MONDO:0013654 aneurysm, intracranial berry, 11 skos:exactMatch MEDGEN:481905 semapv:UnspecifiedMatching MONDO:0013654 aneurysm, intracranial berry, 11 skos:exactMatch OMIM:614252 aneurysm, intracranial berry, 11 semapv:UnspecifiedMatching MONDO:0013654 aneurysm, intracranial berry, 11 skos:exactMatch UMLS:C3280275 semapv:UnspecifiedMatching MONDO:0013655 neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant skos:exactMatch DOID:0070038 autosomal dominant intellectual developmental disorder 8 semapv:UnspecifiedMatching MONDO:0013655 neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant skos:exactMatch MEDGEN:481912 semapv:UnspecifiedMatching MONDO:0013655 neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant skos:exactMatch OMIM:614254 neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant semapv:UnspecifiedMatching MONDO:0013655 neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant skos:exactMatch UMLS:C3280282 semapv:UnspecifiedMatching MONDO:0013656 intellectual disability, autosomal dominant 9 skos:exactMatch DOID:0070039 NESCAV syndrome semapv:UnspecifiedMatching MONDO:0013656 intellectual disability, autosomal dominant 9 skos:exactMatch MEDGEN:1714250 semapv:UnspecifiedMatching MONDO:0013656 intellectual disability, autosomal dominant 9 skos:exactMatch NCIT:C133742 Mental Retardation, Autosomal Dominant 9 semapv:UnspecifiedMatching MONDO:0013656 intellectual disability, autosomal dominant 9 skos:exactMatch OMIM:614255 nescav syndrome semapv:UnspecifiedMatching MONDO:0013656 intellectual disability, autosomal dominant 9 skos:exactMatch Orphanet:662367 NESCAV syndrome semapv:UnspecifiedMatching MONDO:0013656 intellectual disability, autosomal dominant 9 skos:exactMatch UMLS:C5393830 semapv:UnspecifiedMatching MONDO:0013657 intellectual disability, autosomal dominant 10 skos:exactMatch DOID:0070040 autosomal dominant intellectual developmental disorder 10 semapv:UnspecifiedMatching MONDO:0013657 intellectual disability, autosomal dominant 10 skos:exactMatch MEDGEN:481914 semapv:UnspecifiedMatching MONDO:0013657 intellectual disability, autosomal dominant 10 skos:exactMatch OMIM:614256 intellectual developmental disorder, autosomal dominant 10 semapv:UnspecifiedMatching MONDO:0013657 intellectual disability, autosomal dominant 10 skos:exactMatch UMLS:C3280284 semapv:UnspecifiedMatching MONDO:0013658 intellectual disability, autosomal dominant 11 skos:exactMatch DOID:0070041 autosomal dominant intellectual developmental disorder 11 semapv:UnspecifiedMatching MONDO:0013658 intellectual disability, autosomal dominant 11 skos:exactMatch MEDGEN:481915 semapv:UnspecifiedMatching MONDO:0013658 intellectual disability, autosomal dominant 11 skos:exactMatch OMIM:614257 chromosome 20q11-q12 deletion syndrome semapv:UnspecifiedMatching MONDO:0013658 intellectual disability, autosomal dominant 11 skos:exactMatch UMLS:C3280285 semapv:UnspecifiedMatching MONDO:0013659 microcephaly-capillary malformation syndrome skos:exactMatch MEDGEN:481926 semapv:UnspecifiedMatching MONDO:0013659 microcephaly-capillary malformation syndrome skos:exactMatch OMIM:614261 microcephaly-capillary malformation syndrome semapv:UnspecifiedMatching MONDO:0013659 microcephaly-capillary malformation syndrome skos:exactMatch Orphanet:294016 Microcephaly-capillary malformation syndrome semapv:UnspecifiedMatching MONDO:0013659 microcephaly-capillary malformation syndrome skos:exactMatch SCTID:703369003 semapv:UnspecifiedMatching MONDO:0013659 microcephaly-capillary malformation syndrome skos:exactMatch UMLS:C3280296 semapv:UnspecifiedMatching MONDO:0013660 arthrogryposis, Perthes disease, and upward gaze palsy skos:exactMatch MEDGEN:481939 semapv:UnspecifiedMatching MONDO:0013660 arthrogryposis, Perthes disease, and upward gaze palsy skos:exactMatch OMIM:614262 arthrogryposis, perthes disease, and upward gaze palsy semapv:UnspecifiedMatching MONDO:0013660 arthrogryposis, Perthes disease, and upward gaze palsy skos:exactMatch UMLS:C3280309 semapv:UnspecifiedMatching MONDO:0013661 combined malonic and methylmalonic acidemia skos:exactMatch DOID:0111263 combined malonic and methylmalonic acidemia semapv:UnspecifiedMatching MONDO:0013661 combined malonic and methylmalonic acidemia skos:exactMatch MEDGEN:481944 semapv:UnspecifiedMatching MONDO:0013661 combined malonic and methylmalonic acidemia skos:exactMatch OMIM:614265 combined malonic and methylmalonic aciduria semapv:UnspecifiedMatching MONDO:0013661 combined malonic and methylmalonic acidemia skos:exactMatch Orphanet:289504 Combined malonic and methylmalonic acidemia semapv:UnspecifiedMatching MONDO:0013661 combined malonic and methylmalonic acidemia skos:exactMatch SCTID:702365002 semapv:UnspecifiedMatching MONDO:0013661 combined malonic and methylmalonic acidemia skos:exactMatch UMLS:C3280314 semapv:UnspecifiedMatching MONDO:0013661 combined malonic and methylmalonic acidemia skos:exactMatch mesh:C580002 semapv:UnspecifiedMatching MONDO:0013662 Barrett esophagus skos:exactMatch DOID:9206 Barrett's esophagus semapv:UnspecifiedMatching MONDO:0013662 Barrett esophagus skos:exactMatch EFO:0000280 semapv:UnspecifiedMatching MONDO:0013662 Barrett esophagus skos:exactMatch ICD10CM:K22.7 Barrett's esophagus semapv:UnspecifiedMatching MONDO:0013662 Barrett esophagus skos:exactMatch MEDGEN:2551 semapv:UnspecifiedMatching MONDO:0013662 Barrett esophagus skos:exactMatch NCIT:C2891 Barrett Esophagus semapv:UnspecifiedMatching MONDO:0013662 Barrett esophagus skos:exactMatch OMIM:614266 barrett esophagus semapv:UnspecifiedMatching MONDO:0013662 Barrett esophagus skos:exactMatch SCTID:196609006 semapv:UnspecifiedMatching MONDO:0013662 Barrett esophagus skos:exactMatch UMLS:C0004763 semapv:UnspecifiedMatching MONDO:0013662 Barrett esophagus skos:exactMatch mesh:D001471 semapv:UnspecifiedMatching MONDO:0013663 platelet-activating factor acetylhydrolase deficiency skos:exactMatch MEDGEN:481945 semapv:UnspecifiedMatching MONDO:0013663 platelet-activating factor acetylhydrolase deficiency skos:exactMatch OMIM:614278 platelet-activating factor acetylhydrolase deficiency semapv:UnspecifiedMatching MONDO:0013663 platelet-activating factor acetylhydrolase deficiency skos:exactMatch UMLS:C3280315 semapv:UnspecifiedMatching MONDO:0013663 platelet-activating factor acetylhydrolase deficiency skos:exactMatch mesh:C566640 semapv:UnspecifiedMatching MONDO:0013664 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency skos:exactMatch DOID:0111773 46,XY sex reversal 8 semapv:UnspecifiedMatching MONDO:0013664 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency skos:exactMatch MEDGEN:333416 semapv:UnspecifiedMatching MONDO:0013664 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency skos:exactMatch OMIM:614279 46,xy sex reversal 8 semapv:UnspecifiedMatching MONDO:0013664 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency skos:exactMatch Orphanet:443087 46,XY difference of sex development due to testicular 17,20-desmolase deficiency semapv:UnspecifiedMatching MONDO:0013664 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency skos:exactMatch SCTID:49013001 semapv:UnspecifiedMatching MONDO:0013664 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency skos:exactMatch UMLS:C1839840 semapv:UnspecifiedMatching MONDO:0013664 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency skos:exactMatch mesh:C564109 semapv:UnspecifiedMatching MONDO:0013665 epilepsy, juvenile myoclonic, susceptibility to, 9 skos:exactMatch DOID:0111328 juvenile myoclonic epilepsy 9 semapv:UnspecifiedMatching MONDO:0013665 epilepsy, juvenile myoclonic, susceptibility to, 9 skos:exactMatch MEDGEN:481962 semapv:UnspecifiedMatching MONDO:0013665 epilepsy, juvenile myoclonic, susceptibility to, 9 skos:exactMatch OMIM:614280 epilepsy, juvenile myoclonic, susceptibility to, 9 semapv:UnspecifiedMatching MONDO:0013665 epilepsy, juvenile myoclonic, susceptibility to, 9 skos:exactMatch UMLS:C3280332 semapv:UnspecifiedMatching MONDO:0013666 Stickler syndrome, type 5 skos:exactMatch MEDGEN:481972 semapv:UnspecifiedMatching MONDO:0013666 Stickler syndrome, type 5 skos:exactMatch OMIM:614284 stickler syndrome, type 5 semapv:UnspecifiedMatching MONDO:0013666 Stickler syndrome, type 5 skos:exactMatch UMLS:C3280342 semapv:UnspecifiedMatching MONDO:0013668 tetrasomy 18p skos:exactMatch MEDGEN:167079 semapv:UnspecifiedMatching MONDO:0013668 tetrasomy 18p skos:exactMatch OMIM:614290 tetrasomy 18p semapv:UnspecifiedMatching MONDO:0013668 tetrasomy 18p skos:exactMatch Orphanet:3307 Tetrasomy 18p syndrome semapv:UnspecifiedMatching MONDO:0013668 tetrasomy 18p skos:exactMatch SCTID:698849002 semapv:UnspecifiedMatching MONDO:0013668 tetrasomy 18p skos:exactMatch UMLS:C0795868 semapv:UnspecifiedMatching MONDO:0013668 tetrasomy 18p skos:exactMatch icd11.foundation:1182006735 Tetrasomy 18p semapv:UnspecifiedMatching MONDO:0013668 tetrasomy 18p skos:exactMatch mesh:C538306 semapv:UnspecifiedMatching MONDO:0013669 breast-ovarian cancer, familial, susceptibility to, 4 skos:exactMatch MEDGEN:481975 semapv:UnspecifiedMatching MONDO:0013669 breast-ovarian cancer, familial, susceptibility to, 4 skos:exactMatch OMIM:614291 breast-ovarian cancer, familial, susceptibility to, 4 semapv:UnspecifiedMatching MONDO:0013669 breast-ovarian cancer, familial, susceptibility to, 4 skos:exactMatch UMLS:C3280345 semapv:UnspecifiedMatching MONDO:0013670 myopia, high, with cataract and vitreoretinal degeneration skos:exactMatch MEDGEN:481976 semapv:UnspecifiedMatching MONDO:0013670 myopia, high, with cataract and vitreoretinal degeneration skos:exactMatch OMIM:614292 myopia, high, with cataract and vitreoretinal degeneration semapv:UnspecifiedMatching MONDO:0013670 myopia, high, with cataract and vitreoretinal degeneration skos:exactMatch UMLS:C3280346 semapv:UnspecifiedMatching MONDO:0013671 hydatidiform mole, recurrent, 2 skos:exactMatch MEDGEN:481982 semapv:UnspecifiedMatching MONDO:0013671 hydatidiform mole, recurrent, 2 skos:exactMatch OMIM:614293 hydatidiform mole, recurrent, 2 semapv:UnspecifiedMatching MONDO:0013671 hydatidiform mole, recurrent, 2 skos:exactMatch UMLS:C3280352 semapv:UnspecifiedMatching MONDO:0013672 chromosome 15q25 deletion syndrome skos:exactMatch DOID:0060396 chromosome 15q25 deletion syndrome semapv:UnspecifiedMatching MONDO:0013672 chromosome 15q25 deletion syndrome skos:exactMatch MEDGEN:481985 semapv:UnspecifiedMatching MONDO:0013672 chromosome 15q25 deletion syndrome skos:exactMatch OMIM:614294 chromosome 15q25 deletion syndrome semapv:UnspecifiedMatching MONDO:0013672 chromosome 15q25 deletion syndrome skos:exactMatch UMLS:C3280355 semapv:UnspecifiedMatching MONDO:0013673 Wolfram-like syndrome skos:exactMatch DOID:0080584 autosomal dominant Wolfram syndrome semapv:UnspecifiedMatching MONDO:0013673 Wolfram-like syndrome skos:exactMatch MEDGEN:481988 semapv:UnspecifiedMatching MONDO:0013673 Wolfram-like syndrome skos:exactMatch OMIM:614296 wolfram-like syndrome, autosomal dominant semapv:UnspecifiedMatching MONDO:0013673 Wolfram-like syndrome skos:exactMatch Orphanet:411590 Wolfram-like syndrome semapv:UnspecifiedMatching MONDO:0013673 Wolfram-like syndrome skos:exactMatch SCTID:734022008 semapv:UnspecifiedMatching MONDO:0013673 Wolfram-like syndrome skos:exactMatch UMLS:C3280358 semapv:UnspecifiedMatching MONDO:0013673 Wolfram-like syndrome skos:exactMatch mesh:C565631 semapv:UnspecifiedMatching MONDO:0013674 neurodegeneration with brain iron accumulation 4 skos:exactMatch DOID:0110738 neurodegeneration with brain iron accumulation 4 semapv:UnspecifiedMatching MONDO:0013674 neurodegeneration with brain iron accumulation 4 skos:exactMatch MEDGEN:482001 semapv:UnspecifiedMatching MONDO:0013674 neurodegeneration with brain iron accumulation 4 skos:exactMatch NCIT:C175707 Neurodegeneration with Brain Iron Accumulation 4 semapv:UnspecifiedMatching MONDO:0013674 neurodegeneration with brain iron accumulation 4 skos:exactMatch OMIM:614298 neurodegeneration with brain iron accumulation 4 semapv:UnspecifiedMatching MONDO:0013674 neurodegeneration with brain iron accumulation 4 skos:exactMatch Orphanet:289560 Mitochondrial membrane protein-associated neurodegeneration semapv:UnspecifiedMatching MONDO:0013674 neurodegeneration with brain iron accumulation 4 skos:exactMatch SCTID:709415008 semapv:UnspecifiedMatching MONDO:0013674 neurodegeneration with brain iron accumulation 4 skos:exactMatch UMLS:C3280371 semapv:UnspecifiedMatching MONDO:0013675 multiple mitochondrial dysfunctions syndrome 2 skos:exactMatch DOID:0080134 multiple mitochondrial dysfunctions syndrome 2 semapv:UnspecifiedMatching MONDO:0013675 multiple mitochondrial dysfunctions syndrome 2 skos:exactMatch MEDGEN:482008 semapv:UnspecifiedMatching MONDO:0013675 multiple mitochondrial dysfunctions syndrome 2 skos:exactMatch OMIM:614299 multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia semapv:UnspecifiedMatching MONDO:0013675 multiple mitochondrial dysfunctions syndrome 2 skos:exactMatch Orphanet:401874 Multiple mitochondrial dysfunctions syndrome type 2 semapv:UnspecifiedMatching MONDO:0013675 multiple mitochondrial dysfunctions syndrome 2 skos:exactMatch UMLS:C3280378 semapv:UnspecifiedMatching MONDO:0013677 Emery-Dreifuss muscular dystrophy 7, autosomal dominant skos:exactMatch DOID:0070252 autosomal dominant Emery-Dreifuss muscular dystrophy 7 semapv:UnspecifiedMatching MONDO:0013677 Emery-Dreifuss muscular dystrophy 7, autosomal dominant skos:exactMatch MEDGEN:765974 semapv:UnspecifiedMatching MONDO:0013677 Emery-Dreifuss muscular dystrophy 7, autosomal dominant skos:exactMatch OMIM:614302 emery-dreifuss muscular dystrophy 7, autosomal dominant semapv:UnspecifiedMatching MONDO:0013677 Emery-Dreifuss muscular dystrophy 7, autosomal dominant skos:exactMatch UMLS:C3553060 semapv:UnspecifiedMatching MONDO:0013678 EDICT syndrome skos:exactMatch MEDGEN:482022 semapv:UnspecifiedMatching MONDO:0013678 EDICT syndrome skos:exactMatch OMIM:614303 EDICT syndrome semapv:UnspecifiedMatching MONDO:0013678 EDICT syndrome skos:exactMatch Orphanet:293936 EDICT syndrome semapv:UnspecifiedMatching MONDO:0013678 EDICT syndrome skos:exactMatch SCTID:722439009 semapv:UnspecifiedMatching MONDO:0013678 EDICT syndrome skos:exactMatch UMLS:C3280392 semapv:UnspecifiedMatching MONDO:0013679 sclerosteosis 2 skos:exactMatch DOID:0060757 sclerosteosis 2 semapv:UnspecifiedMatching MONDO:0013679 sclerosteosis 2 skos:exactMatch MEDGEN:482032 semapv:UnspecifiedMatching MONDO:0013679 sclerosteosis 2 skos:exactMatch OMIM:614305 sclerosteosis 2 semapv:UnspecifiedMatching MONDO:0013679 sclerosteosis 2 skos:exactMatch UMLS:C3280402 semapv:UnspecifiedMatching MONDO:0013680 cognitive impairment with or without cerebellar ataxia skos:exactMatch MEDGEN:482045 semapv:UnspecifiedMatching MONDO:0013680 cognitive impairment with or without cerebellar ataxia skos:exactMatch OMIM:614306 cognitive impairment with or without cerebellar ataxia semapv:UnspecifiedMatching MONDO:0013680 cognitive impairment with or without cerebellar ataxia skos:exactMatch UMLS:C3280415 semapv:UnspecifiedMatching MONDO:0013681 alpha-methylacyl-CoA racemase deficiency skos:exactMatch DOID:0060602 alpha-methylacyl-CoA racemase deficiency semapv:UnspecifiedMatching MONDO:0013681 alpha-methylacyl-CoA racemase deficiency skos:exactMatch EFO:1001980 semapv:UnspecifiedMatching MONDO:0013681 alpha-methylacyl-CoA racemase deficiency skos:exactMatch MEDGEN:482058 semapv:UnspecifiedMatching MONDO:0013681 alpha-methylacyl-CoA racemase deficiency skos:exactMatch NCIT:C119677 Alpha-Methylacyl-CoA Racemase Deficiency semapv:UnspecifiedMatching MONDO:0013681 alpha-methylacyl-CoA racemase deficiency skos:exactMatch OMIM:614307 alpha-methylacyl-coa racemase deficiency semapv:UnspecifiedMatching MONDO:0013681 alpha-methylacyl-CoA racemase deficiency skos:exactMatch SCTID:700463002 semapv:UnspecifiedMatching MONDO:0013681 alpha-methylacyl-CoA racemase deficiency skos:exactMatch UMLS:C3280428 semapv:UnspecifiedMatching MONDO:0013681 alpha-methylacyl-CoA racemase deficiency skos:exactMatch mesh:C565768 semapv:UnspecifiedMatching MONDO:0013682 vesicoureteral reflux 4 skos:exactMatch MEDGEN:482069 semapv:UnspecifiedMatching MONDO:0013682 vesicoureteral reflux 4 skos:exactMatch OMIM:614317 vesicoureteral reflux 4 semapv:UnspecifiedMatching MONDO:0013682 vesicoureteral reflux 4 skos:exactMatch UMLS:C3280439 semapv:UnspecifiedMatching MONDO:0013683 vesicoureteral reflux 5 skos:exactMatch MEDGEN:482070 semapv:UnspecifiedMatching MONDO:0013683 vesicoureteral reflux 5 skos:exactMatch OMIM:614318 vesicoureteral reflux 5 semapv:UnspecifiedMatching MONDO:0013683 vesicoureteral reflux 5 skos:exactMatch UMLS:C3280440 semapv:UnspecifiedMatching MONDO:0013684 vesicoureteral reflux 6 skos:exactMatch MEDGEN:482071 semapv:UnspecifiedMatching MONDO:0013684 vesicoureteral reflux 6 skos:exactMatch OMIM:614319 vesicoureteral reflux 6 semapv:UnspecifiedMatching MONDO:0013684 vesicoureteral reflux 6 skos:exactMatch UMLS:C3280441 semapv:UnspecifiedMatching MONDO:0013685 pancreatic cancer, susceptibility to, 4 skos:exactMatch MEDGEN:482072 semapv:UnspecifiedMatching MONDO:0013685 pancreatic cancer, susceptibility to, 4 skos:exactMatch OMIM:614320 pancreatic cancer, susceptibility to, 4 semapv:UnspecifiedMatching MONDO:0013685 pancreatic cancer, susceptibility to, 4 skos:exactMatch UMLS:C3280442 semapv:UnspecifiedMatching MONDO:0013686 distal myopathy, Tateyama type skos:exactMatch DOID:0111191 distal myopathy Tateyama type semapv:UnspecifiedMatching MONDO:0013686 distal myopathy, Tateyama type skos:exactMatch MEDGEN:482073 semapv:UnspecifiedMatching MONDO:0013686 distal myopathy, Tateyama type skos:exactMatch OMIM:614321 myopathy, distal, tateyama type semapv:UnspecifiedMatching MONDO:0013686 distal myopathy, Tateyama type skos:exactMatch Orphanet:488650 Distal myopathy, Tateyama type semapv:UnspecifiedMatching MONDO:0013686 distal myopathy, Tateyama type skos:exactMatch SCTID:711265009 semapv:UnspecifiedMatching MONDO:0013686 distal myopathy, Tateyama type skos:exactMatch UMLS:C3280443 semapv:UnspecifiedMatching MONDO:0013687 autosomal recessive spinocerebellar ataxia 12 skos:exactMatch DOID:0080060 autosomal recessive spinocerebellar ataxia 12 semapv:UnspecifiedMatching MONDO:0013687 autosomal recessive spinocerebellar ataxia 12 skos:exactMatch MEDGEN:482082 semapv:UnspecifiedMatching MONDO:0013687 autosomal recessive spinocerebellar ataxia 12 skos:exactMatch OMIM:614322 spinocerebellar ataxia, autosomal recessive 12 semapv:UnspecifiedMatching MONDO:0013687 autosomal recessive spinocerebellar ataxia 12 skos:exactMatch Orphanet:284282 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency semapv:UnspecifiedMatching MONDO:0013687 autosomal recessive spinocerebellar ataxia 12 skos:exactMatch UMLS:C3280452 semapv:UnspecifiedMatching MONDO:0013688 linear and whorled nevoid hypermelanosis skos:exactMatch MEDGEN:473394 semapv:UnspecifiedMatching MONDO:0013688 linear and whorled nevoid hypermelanosis skos:exactMatch NCIT:C3924 Becker Nevus semapv:UnspecifiedMatching MONDO:0013688 linear and whorled nevoid hypermelanosis skos:exactMatch OMIM:614323 nevoid hypermelanosis, linear and whorled semapv:UnspecifiedMatching MONDO:0013688 linear and whorled nevoid hypermelanosis skos:exactMatch Orphanet:79150 Linear and whorled nevoid hypermelanosis semapv:UnspecifiedMatching MONDO:0013688 linear and whorled nevoid hypermelanosis skos:exactMatch SCTID:403803002 semapv:UnspecifiedMatching MONDO:0013688 linear and whorled nevoid hypermelanosis skos:exactMatch UMLS:C1304501 semapv:UnspecifiedMatching MONDO:0013689 ovarian dysgenesis 3 skos:exactMatch DOID:0080495 ovarian dysgenesis 3 semapv:UnspecifiedMatching MONDO:0013689 ovarian dysgenesis 3 skos:exactMatch MEDGEN:482101 semapv:UnspecifiedMatching MONDO:0013689 ovarian dysgenesis 3 skos:exactMatch OMIM:614324 ovarian dysgenesis 3 semapv:UnspecifiedMatching MONDO:0013689 ovarian dysgenesis 3 skos:exactMatch UMLS:C3280471 semapv:UnspecifiedMatching MONDO:0013690 Pitt-Hopkins-like syndrome 2 skos:exactMatch DOID:0111332 Pitt-Hopkins-like syndrome 2 semapv:UnspecifiedMatching MONDO:0013690 Pitt-Hopkins-like syndrome 2 skos:exactMatch MEDGEN:1842499 semapv:UnspecifiedMatching MONDO:0013690 Pitt-Hopkins-like syndrome 2 skos:exactMatch MEDGEN:482109 semapv:UnspecifiedMatching MONDO:0013690 Pitt-Hopkins-like syndrome 2 skos:exactMatch OMIM:614325 pitt-hopkins-like syndrome 2 semapv:UnspecifiedMatching MONDO:0013690 Pitt-Hopkins-like syndrome 2 skos:exactMatch Orphanet:600663 NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance semapv:UnspecifiedMatching MONDO:0013690 Pitt-Hopkins-like syndrome 2 skos:exactMatch UMLS:C3280479 semapv:UnspecifiedMatching MONDO:0013690 Pitt-Hopkins-like syndrome 2 skos:exactMatch UMLS:C5681528 semapv:UnspecifiedMatching MONDO:0013691 Feingold syndrome type 2 skos:exactMatch MEDGEN:482119 semapv:UnspecifiedMatching MONDO:0013691 Feingold syndrome type 2 skos:exactMatch OMIM:614326 feingold syndrome 2 semapv:UnspecifiedMatching MONDO:0013691 Feingold syndrome type 2 skos:exactMatch Orphanet:391646 Feingold syndrome type 2 semapv:UnspecifiedMatching MONDO:0013691 Feingold syndrome type 2 skos:exactMatch UMLS:C3280489 semapv:UnspecifiedMatching MONDO:0013692 BAP1-related tumor predisposition syndrome skos:exactMatch MEDGEN:482122 semapv:UnspecifiedMatching MONDO:0013692 BAP1-related tumor predisposition syndrome skos:exactMatch NCIT:C172639 BAP1 Tumor Predisposition Syndrome semapv:UnspecifiedMatching MONDO:0013692 BAP1-related tumor predisposition syndrome skos:exactMatch OMIM:614327 tumor predisposition syndrome 1 semapv:UnspecifiedMatching MONDO:0013692 BAP1-related tumor predisposition syndrome skos:exactMatch Orphanet:289539 BAP1-related tumor predisposition syndrome semapv:UnspecifiedMatching MONDO:0013692 BAP1-related tumor predisposition syndrome skos:exactMatch SCTID:765057007 semapv:UnspecifiedMatching MONDO:0013692 BAP1-related tumor predisposition syndrome skos:exactMatch UMLS:C3280492 semapv:UnspecifiedMatching MONDO:0013693 inflammatory skin and bowel disease, neonatal, 1 skos:exactMatch DOID:0061192 neonatal inflammatory skin and bowel disease 1 semapv:UnspecifiedMatching MONDO:0013693 inflammatory skin and bowel disease, neonatal, 1 skos:exactMatch MEDGEN:482131 semapv:UnspecifiedMatching MONDO:0013693 inflammatory skin and bowel disease, neonatal, 1 skos:exactMatch OMIM:614328 inflammatory skin and bowel disease, neonatal, 1 semapv:UnspecifiedMatching MONDO:0013693 inflammatory skin and bowel disease, neonatal, 1 skos:exactMatch UMLS:C3280501 semapv:UnspecifiedMatching MONDO:0013694 intellectual disability, autosomal recessive 31 skos:exactMatch DOID:0081191 autosomal recessive intellectual developmental disorder 31 semapv:UnspecifiedMatching MONDO:0013694 intellectual disability, autosomal recessive 31 skos:exactMatch MEDGEN:482153 semapv:UnspecifiedMatching MONDO:0013694 intellectual disability, autosomal recessive 31 skos:exactMatch OMIM:614329 intellectual developmental disorder, autosomal recessive 31 semapv:UnspecifiedMatching MONDO:0013694 intellectual disability, autosomal recessive 31 skos:exactMatch UMLS:C3280523 semapv:UnspecifiedMatching MONDO:0013695 colorectal cancer, hereditary nonpolyposis, type 6 skos:exactMatch DOID:0070273 hereditary nonpolyposis colorectal cancer type 6 semapv:UnspecifiedMatching MONDO:0013695 colorectal cancer, hereditary nonpolyposis, type 6 skos:exactMatch MEDGEN:348732 semapv:UnspecifiedMatching MONDO:0013695 colorectal cancer, hereditary nonpolyposis, type 6 skos:exactMatch OMIM:614331 colorectal cancer, hereditary nonpolyposis, type 6 semapv:UnspecifiedMatching MONDO:0013695 colorectal cancer, hereditary nonpolyposis, type 6 skos:exactMatch UMLS:C1860896 semapv:UnspecifiedMatching MONDO:0013695 colorectal cancer, hereditary nonpolyposis, type 6 skos:exactMatch mesh:C566039 semapv:UnspecifiedMatching MONDO:0013696 chromosome 2p16.3 deletion syndrome skos:exactMatch MEDGEN:814824 semapv:UnspecifiedMatching MONDO:0013696 chromosome 2p16.3 deletion syndrome skos:exactMatch OMIM:614332 chromosome 2p16.3 deletion syndrome semapv:UnspecifiedMatching MONDO:0013696 chromosome 2p16.3 deletion syndrome skos:exactMatch UMLS:C3808494 semapv:UnspecifiedMatching MONDO:0013697 intellectual disability, autosomal recessive 29 skos:exactMatch DOID:0081192 autosomal recessive intellectual developmental disorder 29 semapv:UnspecifiedMatching MONDO:0013697 intellectual disability, autosomal recessive 29 skos:exactMatch MEDGEN:482155 semapv:UnspecifiedMatching MONDO:0013697 intellectual disability, autosomal recessive 29 skos:exactMatch OMIM:614333 intellectual developmental disorder, autosomal recessive 29 semapv:UnspecifiedMatching MONDO:0013697 intellectual disability, autosomal recessive 29 skos:exactMatch UMLS:C3280525 semapv:UnspecifiedMatching MONDO:0013698 arthrogryposis, distal, type 1B skos:exactMatch DOID:0111598 distal arthrogryposis type 1B semapv:UnspecifiedMatching MONDO:0013698 arthrogryposis, distal, type 1B skos:exactMatch MEDGEN:482156 semapv:UnspecifiedMatching MONDO:0013698 arthrogryposis, distal, type 1B skos:exactMatch OMIM:614335 arthrogryposis, distal, type 1b semapv:UnspecifiedMatching MONDO:0013698 arthrogryposis, distal, type 1B skos:exactMatch UMLS:C3280526 semapv:UnspecifiedMatching MONDO:0013699 Lynch syndrome 4 skos:exactMatch DOID:0070275 hereditary nonpolyposis colorectal cancer type 4 semapv:UnspecifiedMatching MONDO:0013699 Lynch syndrome 4 skos:exactMatch MEDGEN:325005 semapv:UnspecifiedMatching MONDO:0013699 Lynch syndrome 4 skos:exactMatch OMIM:614337 lynch syndrome 4 semapv:UnspecifiedMatching MONDO:0013699 Lynch syndrome 4 skos:exactMatch UMLS:C1838333 semapv:UnspecifiedMatching MONDO:0013699 Lynch syndrome 4 skos:exactMatch mesh:C563971 semapv:UnspecifiedMatching MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:exactMatch MEDGEN:482157 semapv:UnspecifiedMatching MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:exactMatch NCIT:C129030 Pancreatic Lipase Deficiency semapv:UnspecifiedMatching MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:exactMatch OMIM:614338 pancreatic lipase deficiency semapv:UnspecifiedMatching MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:exactMatch Orphanet:309031 Pancreatic triacylglycerol lipase deficiency semapv:UnspecifiedMatching MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:exactMatch SCTID:78960005 semapv:UnspecifiedMatching MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:exactMatch UMLS:C3280527 semapv:UnspecifiedMatching MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:exactMatch icd11.foundation:349070670 Pancreatic triacylglycerol lipase deficiency semapv:UnspecifiedMatching MONDO:0013701 obsolete MRT32 skos:exactMatch OMIM:614339 semapv:UnspecifiedMatching MONDO:0013702 intellectual disability, autosomal recessive 27 skos:exactMatch DOID:0081193 autosomal recessive intellectual developmental disorder 27 semapv:UnspecifiedMatching MONDO:0013702 intellectual disability, autosomal recessive 27 skos:exactMatch MEDGEN:482168 semapv:UnspecifiedMatching MONDO:0013702 intellectual disability, autosomal recessive 27 skos:exactMatch OMIM:614340 intellectual developmental disorder, autosomal recessive 27 semapv:UnspecifiedMatching MONDO:0013702 intellectual disability, autosomal recessive 27 skos:exactMatch UMLS:C3280538 semapv:UnspecifiedMatching MONDO:0013703 intellectual disability, autosomal recessive 33 skos:exactMatch DOID:0081194 autosomal recessive intellectual developmental disorder 33 semapv:UnspecifiedMatching MONDO:0013703 intellectual disability, autosomal recessive 33 skos:exactMatch MEDGEN:482169 semapv:UnspecifiedMatching MONDO:0013703 intellectual disability, autosomal recessive 33 skos:exactMatch OMIM:614341 intellectual developmental disorder, autosomal recessive 33 semapv:UnspecifiedMatching MONDO:0013703 intellectual disability, autosomal recessive 33 skos:exactMatch UMLS:C3280539 semapv:UnspecifiedMatching MONDO:0013704 intellectual disability, autosomal recessive 30 skos:exactMatch DOID:0081195 autosomal recessive intellectual developmental disorder 30 semapv:UnspecifiedMatching MONDO:0013704 intellectual disability, autosomal recessive 30 skos:exactMatch MEDGEN:482170 semapv:UnspecifiedMatching MONDO:0013704 intellectual disability, autosomal recessive 30 skos:exactMatch OMIM:614342 intellectual developmental disorder, autosomal recessive 30 semapv:UnspecifiedMatching MONDO:0013704 intellectual disability, autosomal recessive 30 skos:exactMatch UMLS:C3280540 semapv:UnspecifiedMatching MONDO:0013705 intellectual disability, autosomal recessive 19 skos:exactMatch MEDGEN:482171 semapv:UnspecifiedMatching MONDO:0013705 intellectual disability, autosomal recessive 19 skos:exactMatch OMIM:614343 intellectual developmental disorder, autosomal recessive 19 semapv:UnspecifiedMatching MONDO:0013705 intellectual disability, autosomal recessive 19 skos:exactMatch UMLS:C3280541 semapv:UnspecifiedMatching MONDO:0013706 intellectual disability, autosomal recessive 23 skos:exactMatch DOID:0081196 autosomal recessive intellectual developmental disorder 23 semapv:UnspecifiedMatching MONDO:0013706 intellectual disability, autosomal recessive 23 skos:exactMatch MEDGEN:482172 semapv:UnspecifiedMatching MONDO:0013706 intellectual disability, autosomal recessive 23 skos:exactMatch OMIM:614344 intellectual developmental disorder, autosomal recessive 23 semapv:UnspecifiedMatching MONDO:0013706 intellectual disability, autosomal recessive 23 skos:exactMatch UMLS:C3280542 semapv:UnspecifiedMatching MONDO:0013707 intellectual disability, autosomal recessive 24 skos:exactMatch DOID:0081197 autosomal recessive intellectual developmental disorder 24 semapv:UnspecifiedMatching MONDO:0013707 intellectual disability, autosomal recessive 24 skos:exactMatch MEDGEN:482173 semapv:UnspecifiedMatching MONDO:0013707 intellectual disability, autosomal recessive 24 skos:exactMatch OMIM:614345 intellectual developmental disorder, autosomal recessive 24 semapv:UnspecifiedMatching MONDO:0013707 intellectual disability, autosomal recessive 24 skos:exactMatch UMLS:C3280543 semapv:UnspecifiedMatching MONDO:0013708 intellectual disability, autosomal recessive 25 skos:exactMatch DOID:0081198 autosomal recessive intellectual developmental disorder 25 semapv:UnspecifiedMatching MONDO:0013708 intellectual disability, autosomal recessive 25 skos:exactMatch MEDGEN:482174 semapv:UnspecifiedMatching MONDO:0013708 intellectual disability, autosomal recessive 25 skos:exactMatch OMIM:614346 intellectual developmental disorder, autosomal recessive 25 semapv:UnspecifiedMatching MONDO:0013708 intellectual disability, autosomal recessive 25 skos:exactMatch UMLS:C3280544 semapv:UnspecifiedMatching MONDO:0013709 intellectual disability, autosomal recessive 28 skos:exactMatch DOID:0081199 autosomal recessive intellectual developmental disorder 28 semapv:UnspecifiedMatching MONDO:0013709 intellectual disability, autosomal recessive 28 skos:exactMatch MEDGEN:482175 semapv:UnspecifiedMatching MONDO:0013709 intellectual disability, autosomal recessive 28 skos:exactMatch OMIM:614347 intellectual developmental disorder, autosomal recessive 28 semapv:UnspecifiedMatching MONDO:0013709 intellectual disability, autosomal recessive 28 skos:exactMatch UMLS:C3280545 semapv:UnspecifiedMatching MONDO:0013710 Lynch syndrome 5 skos:exactMatch DOID:0070272 hereditary nonpolyposis colorectal cancer type 5 semapv:UnspecifiedMatching MONDO:0013710 Lynch syndrome 5 skos:exactMatch MEDGEN:318886 semapv:UnspecifiedMatching MONDO:0013710 Lynch syndrome 5 skos:exactMatch OMIM:614350 lynch syndrome 5 semapv:UnspecifiedMatching MONDO:0013710 Lynch syndrome 5 skos:exactMatch UMLS:C1833477 semapv:UnspecifiedMatching MONDO:0013710 Lynch syndrome 5 skos:exactMatch mesh:C563456 semapv:UnspecifiedMatching MONDO:0013711 peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome skos:exactMatch MEDGEN:482186 semapv:UnspecifiedMatching MONDO:0013711 peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome skos:exactMatch OMIM:614369 peripheral neuropathy, myopathy, hoarseness, and hearing loss semapv:UnspecifiedMatching MONDO:0013711 peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome skos:exactMatch Orphanet:397744 Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome semapv:UnspecifiedMatching MONDO:0013711 peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome skos:exactMatch UMLS:C3280556 semapv:UnspecifiedMatching MONDO:0013712 surfactant metabolism dysfunction, pulmonary, 5 skos:exactMatch MEDGEN:482204 semapv:UnspecifiedMatching MONDO:0013712 surfactant metabolism dysfunction, pulmonary, 5 skos:exactMatch OMIM:614370 surfactant metabolism dysfunction, pulmonary, 5 semapv:UnspecifiedMatching MONDO:0013712 surfactant metabolism dysfunction, pulmonary, 5 skos:exactMatch UMLS:C3280574 semapv:UnspecifiedMatching MONDO:0013713 dengue virus, susceptibility to skos:exactMatch MEDGEN:482212 semapv:UnspecifiedMatching MONDO:0013713 dengue virus, susceptibility to skos:exactMatch OMIM:614371 dengue virus, susceptibility to semapv:UnspecifiedMatching MONDO:0013713 dengue virus, susceptibility to skos:exactMatch UMLS:C3280582 semapv:UnspecifiedMatching MONDO:0013714 mannose-binding lectin deficiency skos:exactMatch MEDGEN:482216 semapv:UnspecifiedMatching MONDO:0013714 mannose-binding lectin deficiency skos:exactMatch OMIM:614372 mannose-binding lectin deficiency semapv:UnspecifiedMatching MONDO:0013714 mannose-binding lectin deficiency skos:exactMatch SCTID:703538003 semapv:UnspecifiedMatching MONDO:0013714 mannose-binding lectin deficiency skos:exactMatch UMLS:C3280586 semapv:UnspecifiedMatching MONDO:0013714 mannose-binding lectin deficiency skos:exactMatch mesh:C563602 semapv:UnspecifiedMatching MONDO:0013715 amyotrophic lateral sclerosis type 16 skos:exactMatch DOID:0060207 amyotrophic lateral sclerosis type 16 semapv:UnspecifiedMatching MONDO:0013715 amyotrophic lateral sclerosis type 16 skos:exactMatch MEDGEN:482217 semapv:UnspecifiedMatching MONDO:0013715 amyotrophic lateral sclerosis type 16 skos:exactMatch OMIM:614373 amyotrophic lateral sclerosis 16, juvenile semapv:UnspecifiedMatching MONDO:0013715 amyotrophic lateral sclerosis type 16 skos:exactMatch UMLS:C3280587 semapv:UnspecifiedMatching MONDO:0013716 aortic aneurysm, familial abdominal, 4 skos:exactMatch MEDGEN:482227 semapv:UnspecifiedMatching MONDO:0013716 aortic aneurysm, familial abdominal, 4 skos:exactMatch OMIM:614375 aortic aneurysm, familial abdominal, 4 semapv:UnspecifiedMatching MONDO:0013716 aortic aneurysm, familial abdominal, 4 skos:exactMatch UMLS:C3280597 semapv:UnspecifiedMatching MONDO:0013717 asphyxiating thoracic dystrophy 5 skos:exactMatch DOID:0110089 asphyxiating thoracic dystrophy 5 semapv:UnspecifiedMatching MONDO:0013717 asphyxiating thoracic dystrophy 5 skos:exactMatch MEDGEN:482228 semapv:UnspecifiedMatching MONDO:0013717 asphyxiating thoracic dystrophy 5 skos:exactMatch OMIM:614376 short-rib thoracic dysplasia 5 with or without polydactyly semapv:UnspecifiedMatching MONDO:0013717 asphyxiating thoracic dystrophy 5 skos:exactMatch UMLS:C3280598 semapv:UnspecifiedMatching MONDO:0013718 nephronophthisis 13 skos:exactMatch DOID:0111121 nephronophthisis 13 semapv:UnspecifiedMatching MONDO:0013718 nephronophthisis 13 skos:exactMatch MEDGEN:482242 semapv:UnspecifiedMatching MONDO:0013718 nephronophthisis 13 skos:exactMatch OMIM:614377 nephronophthisis 13 semapv:UnspecifiedMatching MONDO:0013718 nephronophthisis 13 skos:exactMatch UMLS:C3280612 semapv:UnspecifiedMatching MONDO:0013719 cranioectodermal dysplasia 4 skos:exactMatch DOID:0080806 cranioectodermal dysplasia 4 semapv:UnspecifiedMatching MONDO:0013719 cranioectodermal dysplasia 4 skos:exactMatch MEDGEN:482246 semapv:UnspecifiedMatching MONDO:0013719 cranioectodermal dysplasia 4 skos:exactMatch OMIM:614378 cranioectodermal dysplasia 4 semapv:UnspecifiedMatching MONDO:0013719 cranioectodermal dysplasia 4 skos:exactMatch UMLS:C3280616 semapv:UnspecifiedMatching MONDO:0013720 complement component 4b deficiency skos:exactMatch DOID:0060298 complement component 4b deficiency semapv:UnspecifiedMatching MONDO:0013720 complement component 4b deficiency skos:exactMatch MEDGEN:1830476 semapv:UnspecifiedMatching MONDO:0013720 complement component 4b deficiency skos:exactMatch OMIM:614379 complement component 4b deficiency semapv:UnspecifiedMatching MONDO:0013720 complement component 4b deficiency skos:exactMatch UMLS:C5779962 semapv:UnspecifiedMatching MONDO:0013721 complement component 4a deficiency skos:exactMatch DOID:0060297 complement component 4a deficiency semapv:UnspecifiedMatching MONDO:0013721 complement component 4a deficiency skos:exactMatch MEDGEN:482272 semapv:UnspecifiedMatching MONDO:0013721 complement component 4a deficiency skos:exactMatch OMIM:614380 complement component 4a deficiency semapv:UnspecifiedMatching MONDO:0013721 complement component 4a deficiency skos:exactMatch UMLS:C3280642 semapv:UnspecifiedMatching MONDO:0013721 complement component 4a deficiency skos:exactMatch mesh:C565167 semapv:UnspecifiedMatching MONDO:0013722 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism skos:exactMatch DOID:0060797 hypomyelinating leukodystrophy 8 semapv:UnspecifiedMatching MONDO:0013722 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism skos:exactMatch MEDGEN:482274 semapv:UnspecifiedMatching MONDO:0013722 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism skos:exactMatch OMIM:614381 leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism semapv:UnspecifiedMatching MONDO:0013722 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism skos:exactMatch Orphanet:85186 Endosteal sclerosis-cerebellar hypoplasia syndrome semapv:UnspecifiedMatching MONDO:0013722 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism skos:exactMatch UMLS:C3280644 semapv:UnspecifiedMatching MONDO:0013722 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism skos:exactMatch mesh:C535353 semapv:UnspecifiedMatching MONDO:0013723 bacteremia, susceptibility to, 1 skos:exactMatch MEDGEN:482275 semapv:UnspecifiedMatching MONDO:0013723 bacteremia, susceptibility to, 1 skos:exactMatch OMIM:614382 bacteremia, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0013723 bacteremia, susceptibility to, 1 skos:exactMatch UMLS:C3280645 semapv:UnspecifiedMatching MONDO:0013724 bacteremia, susceptibility to, 2 skos:exactMatch MEDGEN:482277 semapv:UnspecifiedMatching MONDO:0013724 bacteremia, susceptibility to, 2 skos:exactMatch OMIM:614383 bacteremia, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0013724 bacteremia, susceptibility to, 2 skos:exactMatch UMLS:C3280647 semapv:UnspecifiedMatching MONDO:0013725 colorectal cancer, hereditary nonpolyposis, type 7 skos:exactMatch DOID:0070276 hereditary nonpolyposis colorectal cancer type 7 semapv:UnspecifiedMatching MONDO:0013725 colorectal cancer, hereditary nonpolyposis, type 7 skos:exactMatch MEDGEN:346893 semapv:UnspecifiedMatching MONDO:0013725 colorectal cancer, hereditary nonpolyposis, type 7 skos:exactMatch OMIM:614385 colorectal cancer, hereditary nonpolyposis, type 7 semapv:UnspecifiedMatching MONDO:0013725 colorectal cancer, hereditary nonpolyposis, type 7 skos:exactMatch UMLS:C1858380 semapv:UnspecifiedMatching MONDO:0013725 colorectal cancer, hereditary nonpolyposis, type 7 skos:exactMatch mesh:C565777 semapv:UnspecifiedMatching MONDO:0013726 encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 skos:exactMatch DOID:0070347 encephalopathy due to defective mitochondrial and peroxisomal fission 1 semapv:UnspecifiedMatching MONDO:0013726 encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 skos:exactMatch MEDGEN:482290 semapv:UnspecifiedMatching MONDO:0013726 encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 skos:exactMatch OMIM:614388 encephalopathy due to defective mitochondrial and peroxisomal fission 1 semapv:UnspecifiedMatching MONDO:0013726 encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 skos:exactMatch Orphanet:330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect semapv:UnspecifiedMatching MONDO:0013726 encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 skos:exactMatch UMLS:C3280660 semapv:UnspecifiedMatching MONDO:0013727 pregnancy loss, recurrent, susceptibility to, 1 skos:exactMatch MEDGEN:482300 semapv:UnspecifiedMatching MONDO:0013727 pregnancy loss, recurrent, susceptibility to, 1 skos:exactMatch OMIM:614389 pregnancy loss, recurrent, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0013727 pregnancy loss, recurrent, susceptibility to, 1 skos:exactMatch UMLS:C3280670 semapv:UnspecifiedMatching MONDO:0013728 pregnancy loss, recurrent, susceptibility to, 2 skos:exactMatch MEDGEN:482302 semapv:UnspecifiedMatching MONDO:0013728 pregnancy loss, recurrent, susceptibility to, 2 skos:exactMatch OMIM:614390 pregnancy loss, recurrent, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0013728 pregnancy loss, recurrent, susceptibility to, 2 skos:exactMatch UMLS:C3280672 semapv:UnspecifiedMatching MONDO:0013729 pregnancy loss, recurrent, susceptibility to, 3 skos:exactMatch MEDGEN:482304 semapv:UnspecifiedMatching MONDO:0013729 pregnancy loss, recurrent, susceptibility to, 3 skos:exactMatch OMIM:614391 pregnancy loss, recurrent, susceptibility to, 3 semapv:UnspecifiedMatching MONDO:0013729 pregnancy loss, recurrent, susceptibility to, 3 skos:exactMatch UMLS:C3280674 semapv:UnspecifiedMatching MONDO:0013730 graft versus host disease skos:exactMatch DOID:0081267 graft-versus-host disease semapv:UnspecifiedMatching MONDO:0013730 graft versus host disease skos:exactMatch ICD10CM:D89.81 Graft-versus-host disease semapv:UnspecifiedMatching MONDO:0013730 graft versus host disease skos:exactMatch MEDGEN:9082 semapv:UnspecifiedMatching MONDO:0013730 graft versus host disease skos:exactMatch NCIT:C3063 Graft Versus Host Disease semapv:UnspecifiedMatching MONDO:0013730 graft versus host disease skos:exactMatch Orphanet:39812 Graft versus host disease semapv:UnspecifiedMatching MONDO:0013730 graft versus host disease skos:exactMatch SCTID:234646005 semapv:UnspecifiedMatching MONDO:0013730 graft versus host disease skos:exactMatch UMLS:C0018133 semapv:UnspecifiedMatching MONDO:0013730 graft versus host disease skos:exactMatch icd11.foundation:437372167 Graft-versus-host disease semapv:UnspecifiedMatching MONDO:0013730 graft versus host disease skos:exactMatch mesh:D006086 semapv:UnspecifiedMatching MONDO:0013731 MEGF10-related myopathy skos:exactMatch DOID:0111333 early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome semapv:UnspecifiedMatching MONDO:0013731 MEGF10-related myopathy skos:exactMatch MEDGEN:482309 semapv:UnspecifiedMatching MONDO:0013731 MEGF10-related myopathy skos:exactMatch OMIM:614399 congenital myopathy 10a, severe variant semapv:UnspecifiedMatching MONDO:0013731 MEGF10-related myopathy skos:exactMatch Orphanet:439212 Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome semapv:UnspecifiedMatching MONDO:0013731 MEGF10-related myopathy skos:exactMatch UMLS:C3280679 semapv:UnspecifiedMatching MONDO:0013732 glucocorticoid therapy, response to skos:exactMatch MEDGEN:482319 semapv:UnspecifiedMatching MONDO:0013732 glucocorticoid therapy, response to skos:exactMatch OMIM:614400 glucocorticoid therapy, response to semapv:UnspecifiedMatching MONDO:0013732 glucocorticoid therapy, response to skos:exactMatch UMLS:C3280689 semapv:UnspecifiedMatching MONDO:0013733 obsolete accelerated tumor formation, susceptibility to skos:exactMatch OMIM:614401 accelerated tumor formation, susceptibility to semapv:UnspecifiedMatching MONDO:0013734 microphthalmia, syndromic 11 skos:exactMatch DOID:0111804 syndromic microphthalmia 11 semapv:UnspecifiedMatching MONDO:0013734 microphthalmia, syndromic 11 skos:exactMatch MEDGEN:765991 semapv:UnspecifiedMatching MONDO:0013734 microphthalmia, syndromic 11 skos:exactMatch OMIM:614402 microphthalmia, syndromic 11 semapv:UnspecifiedMatching MONDO:0013734 microphthalmia, syndromic 11 skos:exactMatch UMLS:C3553077 semapv:UnspecifiedMatching MONDO:0013735 microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome skos:exactMatch MEDGEN:482322 semapv:UnspecifiedMatching MONDO:0013735 microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome skos:exactMatch OMIM:614407 microcephaly, cerebellar hypoplasia, and cardiac conduction defect syndrome semapv:UnspecifiedMatching MONDO:0013735 microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome skos:exactMatch Orphanet:329332 Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome semapv:UnspecifiedMatching MONDO:0013735 microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome skos:exactMatch UMLS:C3280692 semapv:UnspecifiedMatching MONDO:0013737 hereditary spastic paraplegia 46 skos:exactMatch DOID:0110798 hereditary spastic paraplegia 46 semapv:UnspecifiedMatching MONDO:0013737 hereditary spastic paraplegia 46 skos:exactMatch MEDGEN:473687 semapv:UnspecifiedMatching MONDO:0013737 hereditary spastic paraplegia 46 skos:exactMatch OMIM:614409 spastic paraplegia 46, autosomal recessive semapv:UnspecifiedMatching MONDO:0013737 hereditary spastic paraplegia 46 skos:exactMatch Orphanet:320391 Autosomal recessive spastic paraplegia type 46 semapv:UnspecifiedMatching MONDO:0013737 hereditary spastic paraplegia 46 skos:exactMatch SCTID:723822009 semapv:UnspecifiedMatching MONDO:0013737 hereditary spastic paraplegia 46 skos:exactMatch UMLS:C2828721 semapv:UnspecifiedMatching MONDO:0013738 autosomal recessive nonsyndromic hearing loss 96 skos:exactMatch DOID:0110538 autosomal recessive nonsyndromic deafness 96 semapv:UnspecifiedMatching MONDO:0013738 autosomal recessive nonsyndromic hearing loss 96 skos:exactMatch MEDGEN:854865 semapv:UnspecifiedMatching MONDO:0013738 autosomal recessive nonsyndromic hearing loss 96 skos:exactMatch OMIM:614414 deafness, autosomal recessive 96 semapv:UnspecifiedMatching MONDO:0013738 autosomal recessive nonsyndromic hearing loss 96 skos:exactMatch UMLS:C3888337 semapv:UnspecifiedMatching MONDO:0013739 chilblain lupus 2 skos:exactMatch MEDGEN:482351 semapv:UnspecifiedMatching MONDO:0013739 chilblain lupus 2 skos:exactMatch OMIM:614415 chilblain lupus 2 semapv:UnspecifiedMatching MONDO:0013739 chilblain lupus 2 skos:exactMatch UMLS:C3280721 semapv:UnspecifiedMatching MONDO:0013740 lethal occipital encephalocele-skeletal dysplasia syndrome skos:exactMatch MEDGEN:482359 semapv:UnspecifiedMatching MONDO:0013740 lethal occipital encephalocele-skeletal dysplasia syndrome skos:exactMatch OMIM:614416 radiohumeral fusions with other skeletal and craniofacial anomalies semapv:UnspecifiedMatching MONDO:0013740 lethal occipital encephalocele-skeletal dysplasia syndrome skos:exactMatch Orphanet:293925 Lethal occipital encephalocele-skeletal dysplasia syndrome semapv:UnspecifiedMatching MONDO:0013740 lethal occipital encephalocele-skeletal dysplasia syndrome skos:exactMatch UMLS:C3280729 semapv:UnspecifiedMatching MONDO:0013741 familial temporal lobe epilepsy 5 skos:exactMatch DOID:0060752 familial temporal lobe epilepsy 5 semapv:UnspecifiedMatching MONDO:0013741 familial temporal lobe epilepsy 5 skos:exactMatch MEDGEN:482360 semapv:UnspecifiedMatching MONDO:0013741 familial temporal lobe epilepsy 5 skos:exactMatch OMIM:614417 epilepsy, familial temporal lobe, 5 semapv:UnspecifiedMatching MONDO:0013741 familial temporal lobe epilepsy 5 skos:exactMatch UMLS:C3280730 semapv:UnspecifiedMatching MONDO:0013742 obsolete familial mesial temporal lobe epilepsy with febrile seizures skos:exactMatch Orphanet:165805 Familial mesial temporal lobe epilepsy with febrile seizures semapv:UnspecifiedMatching MONDO:0013743 autosomal systemic lupus erythematosus type 16 skos:exactMatch MEDGEN:482372 semapv:UnspecifiedMatching MONDO:0013743 autosomal systemic lupus erythematosus type 16 skos:exactMatch OMIM:614420 systemic lupus erythematosus 16 semapv:UnspecifiedMatching MONDO:0013743 autosomal systemic lupus erythematosus type 16 skos:exactMatch Orphanet:300345 Autosomal systemic lupus erythematosus semapv:UnspecifiedMatching MONDO:0013743 autosomal systemic lupus erythematosus type 16 skos:exactMatch UMLS:C3280742 semapv:UnspecifiedMatching MONDO:0013744 cataract 37 skos:exactMatch DOID:0110252 cataract 37 semapv:UnspecifiedMatching MONDO:0013744 cataract 37 skos:exactMatch MEDGEN:482388 semapv:UnspecifiedMatching MONDO:0013744 cataract 37 skos:exactMatch OMIM:614422 cataract 37 semapv:UnspecifiedMatching MONDO:0013744 cataract 37 skos:exactMatch UMLS:C3280758 semapv:UnspecifiedMatching MONDO:0013745 Joubert syndrome 14 skos:exactMatch DOID:0110983 Joubert syndrome 14 semapv:UnspecifiedMatching MONDO:0013745 Joubert syndrome 14 skos:exactMatch MEDGEN:482396 semapv:UnspecifiedMatching MONDO:0013745 Joubert syndrome 14 skos:exactMatch OMIM:614424 joubert syndrome 14 semapv:UnspecifiedMatching MONDO:0013745 Joubert syndrome 14 skos:exactMatch UMLS:C3280766 semapv:UnspecifiedMatching MONDO:0013746 ventricular septal defect 1 skos:exactMatch MEDGEN:482407 semapv:UnspecifiedMatching MONDO:0013746 ventricular septal defect 1 skos:exactMatch OMIM:614429 ventricular septal defect 1 semapv:UnspecifiedMatching MONDO:0013746 ventricular septal defect 1 skos:exactMatch UMLS:C3280777 semapv:UnspecifiedMatching MONDO:0013747 atrioventricular septal defect 4 skos:exactMatch MEDGEN:482411 semapv:UnspecifiedMatching MONDO:0013747 atrioventricular septal defect 4 skos:exactMatch OMIM:614430 atrioventricular septal defect 4 semapv:UnspecifiedMatching MONDO:0013747 atrioventricular septal defect 4 skos:exactMatch UMLS:C3280781 semapv:UnspecifiedMatching MONDO:0013748 ventricular septal defect 2 skos:exactMatch MEDGEN:482413 semapv:UnspecifiedMatching MONDO:0013748 ventricular septal defect 2 skos:exactMatch OMIM:614431 ventricular septal defect 2 semapv:UnspecifiedMatching MONDO:0013748 ventricular septal defect 2 skos:exactMatch UMLS:C3280783 semapv:UnspecifiedMatching MONDO:0013749 ventricular septal defect 3 skos:exactMatch MEDGEN:482415 semapv:UnspecifiedMatching MONDO:0013749 ventricular septal defect 3 skos:exactMatch OMIM:614432 ventricular septal defect 3 semapv:UnspecifiedMatching MONDO:0013749 ventricular septal defect 3 skos:exactMatch UMLS:C3280785 semapv:UnspecifiedMatching MONDO:0013750 atrial septal defect 8 skos:exactMatch DOID:0110113 atrial heart septal defect 8 semapv:UnspecifiedMatching MONDO:0013750 atrial septal defect 8 skos:exactMatch MEDGEN:482420 semapv:UnspecifiedMatching MONDO:0013750 atrial septal defect 8 skos:exactMatch OMIM:614433 atrial septal defect 8 semapv:UnspecifiedMatching MONDO:0013750 atrial septal defect 8 skos:exactMatch UMLS:C3280790 semapv:UnspecifiedMatching MONDO:0013751 cutis laxa, autosomal dominant 2 skos:exactMatch DOID:0070136 autosomal dominant cutis laxa 2 semapv:UnspecifiedMatching MONDO:0013751 cutis laxa, autosomal dominant 2 skos:exactMatch MEDGEN:482424 semapv:UnspecifiedMatching MONDO:0013751 cutis laxa, autosomal dominant 2 skos:exactMatch OMIM:614434 cutis laxa, autosomal dominant 2 semapv:UnspecifiedMatching MONDO:0013751 cutis laxa, autosomal dominant 2 skos:exactMatch UMLS:C3280794 semapv:UnspecifiedMatching MONDO:0013752 hypoplastic left heart syndrome 2 skos:exactMatch MEDGEN:482425 semapv:UnspecifiedMatching MONDO:0013752 hypoplastic left heart syndrome 2 skos:exactMatch OMIM:614435 hypoplastic left heart syndrome 2 semapv:UnspecifiedMatching MONDO:0013752 hypoplastic left heart syndrome 2 skos:exactMatch UMLS:C3280795 semapv:UnspecifiedMatching MONDO:0013753 Charcot-Marie-Tooth disease axonal type 2P skos:exactMatch DOID:0110169 Charcot-Marie-Tooth disease axonal type 2P semapv:UnspecifiedMatching MONDO:0013753 Charcot-Marie-Tooth disease axonal type 2P skos:exactMatch MEDGEN:482427 semapv:UnspecifiedMatching MONDO:0013753 Charcot-Marie-Tooth disease axonal type 2P skos:exactMatch OMIM:614436 charcot-marie-tooth disease, axonal, type 2p semapv:UnspecifiedMatching MONDO:0013753 Charcot-Marie-Tooth disease axonal type 2P skos:exactMatch Orphanet:300319 Autosomal dominant Charcot-Marie-Tooth disease type 2P semapv:UnspecifiedMatching MONDO:0013753 Charcot-Marie-Tooth disease axonal type 2P skos:exactMatch SCTID:719511005 semapv:UnspecifiedMatching MONDO:0013753 Charcot-Marie-Tooth disease axonal type 2P skos:exactMatch UMLS:C3280797 semapv:UnspecifiedMatching MONDO:0013754 cutis laxa, autosomal recessive, type 1B skos:exactMatch DOID:0070133 autosomal recessive cutis laxa type IB semapv:UnspecifiedMatching MONDO:0013754 cutis laxa, autosomal recessive, type 1B skos:exactMatch MEDGEN:482428 semapv:UnspecifiedMatching MONDO:0013754 cutis laxa, autosomal recessive, type 1B skos:exactMatch OMIM:614437 cutis laxa, autosomal recessive, type 1b semapv:UnspecifiedMatching MONDO:0013754 cutis laxa, autosomal recessive, type 1B skos:exactMatch UMLS:C3280798 semapv:UnspecifiedMatching MONDO:0013755 PYCR1-related de Barsy syndrome skos:exactMatch DOID:0070138 autosomal recessive cutis laxa type IIIB semapv:UnspecifiedMatching MONDO:0013755 PYCR1-related de Barsy syndrome skos:exactMatch MEDGEN:482429 semapv:UnspecifiedMatching MONDO:0013755 PYCR1-related de Barsy syndrome skos:exactMatch OMIM:614438 cutis laxa, autosomal recessive, type 3b semapv:UnspecifiedMatching MONDO:0013755 PYCR1-related de Barsy syndrome skos:exactMatch Orphanet:293633 PYCR1-related De Barsy syndrome semapv:UnspecifiedMatching MONDO:0013755 PYCR1-related de Barsy syndrome skos:exactMatch UMLS:C3280799 semapv:UnspecifiedMatching MONDO:0013756 hypertrophic osteoarthropathy, primary, autosomal recessive, 2 skos:exactMatch MEDGEN:482430 semapv:UnspecifiedMatching MONDO:0013756 hypertrophic osteoarthropathy, primary, autosomal recessive, 2 skos:exactMatch OMIM:614441 phoar2-enteropathy syndrome semapv:UnspecifiedMatching MONDO:0013756 hypertrophic osteoarthropathy, primary, autosomal recessive, 2 skos:exactMatch UMLS:C3280800 semapv:UnspecifiedMatching MONDO:0013757 congenital nongoitrous hypothyroidism 6 skos:exactMatch DOID:0070128 congenital nongoitrous hypothyroidism 6 semapv:UnspecifiedMatching MONDO:0013757 congenital nongoitrous hypothyroidism 6 skos:exactMatch MEDGEN:482447 semapv:UnspecifiedMatching MONDO:0013757 congenital nongoitrous hypothyroidism 6 skos:exactMatch OMIM:614450 hypothyroidism, congenital, nongoitrous, 6 semapv:UnspecifiedMatching MONDO:0013757 congenital nongoitrous hypothyroidism 6 skos:exactMatch UMLS:C3280817 semapv:UnspecifiedMatching MONDO:0013758 Charcot-Marie-Tooth disease dominant intermediate E skos:exactMatch DOID:0110205 Charcot-Marie-Tooth disease dominant intermediate E semapv:UnspecifiedMatching MONDO:0013758 Charcot-Marie-Tooth disease dominant intermediate E skos:exactMatch MEDGEN:928336 semapv:UnspecifiedMatching MONDO:0013758 Charcot-Marie-Tooth disease dominant intermediate E skos:exactMatch OMIM:614455 charcot-marie-tooth disease, dominant intermediate e semapv:UnspecifiedMatching MONDO:0013758 Charcot-Marie-Tooth disease dominant intermediate E skos:exactMatch Orphanet:93114 Autosomal dominant intermediate Charcot-Marie-Tooth disease type E semapv:UnspecifiedMatching MONDO:0013758 Charcot-Marie-Tooth disease dominant intermediate E skos:exactMatch SCTID:722294004 semapv:UnspecifiedMatching MONDO:0013758 Charcot-Marie-Tooth disease dominant intermediate E skos:exactMatch UMLS:C4302667 semapv:UnspecifiedMatching MONDO:0013759 melanoma, cutaneous malignant, susceptibility to, 8 skos:exactMatch MEDGEN:463554 semapv:UnspecifiedMatching MONDO:0013759 melanoma, cutaneous malignant, susceptibility to, 8 skos:exactMatch OMIM:614456 melanoma, cutaneous malignant, susceptibility to, 8 semapv:UnspecifiedMatching MONDO:0013759 melanoma, cutaneous malignant, susceptibility to, 8 skos:exactMatch Orphanet:293822 MITF-related melanoma and renal cell carcinoma predisposition syndrome semapv:UnspecifiedMatching MONDO:0013759 melanoma, cutaneous malignant, susceptibility to, 8 skos:exactMatch UMLS:C3152204 semapv:UnspecifiedMatching MONDO:0013760 congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome skos:exactMatch MEDGEN:482486 semapv:UnspecifiedMatching MONDO:0013760 congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome skos:exactMatch OMIM:614457 ichthyosis, spastic quadriplegia, and impaired intellectual development semapv:UnspecifiedMatching MONDO:0013760 congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome skos:exactMatch Orphanet:352333 Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome semapv:UnspecifiedMatching MONDO:0013760 congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome skos:exactMatch UMLS:C3280856 semapv:UnspecifiedMatching MONDO:0013761 childhood encephalopathy due to thiamine pyrophosphokinase deficiency skos:exactMatch MEDGEN:482496 semapv:UnspecifiedMatching MONDO:0013761 childhood encephalopathy due to thiamine pyrophosphokinase deficiency skos:exactMatch OMIM:614458 thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) semapv:UnspecifiedMatching MONDO:0013761 childhood encephalopathy due to thiamine pyrophosphokinase deficiency skos:exactMatch Orphanet:293955 Childhood encephalopathy due to thiamine pyrophosphokinase deficiency semapv:UnspecifiedMatching MONDO:0013761 childhood encephalopathy due to thiamine pyrophosphokinase deficiency skos:exactMatch UMLS:C3280866 semapv:UnspecifiedMatching MONDO:0013762 lipoic acid synthetase deficiency skos:exactMatch MEDGEN:482517 semapv:UnspecifiedMatching MONDO:0013762 lipoic acid synthetase deficiency skos:exactMatch OMIM:614462 hyperglycinemia, lactic acidosis, and seizures semapv:UnspecifiedMatching MONDO:0013762 lipoic acid synthetase deficiency skos:exactMatch Orphanet:401859 Lipoic acid synthetase deficiency semapv:UnspecifiedMatching MONDO:0013762 lipoic acid synthetase deficiency skos:exactMatch UMLS:C3280887 semapv:UnspecifiedMatching MONDO:0013763 Joubert syndrome 15 skos:exactMatch DOID:0110984 Joubert syndrome 15 semapv:UnspecifiedMatching MONDO:0013763 Joubert syndrome 15 skos:exactMatch MEDGEN:482527 semapv:UnspecifiedMatching MONDO:0013763 Joubert syndrome 15 skos:exactMatch OMIM:614464 joubert syndrome 15 semapv:UnspecifiedMatching MONDO:0013763 Joubert syndrome 15 skos:exactMatch UMLS:C3280897 semapv:UnspecifiedMatching MONDO:0013764 Joubert syndrome 16 skos:exactMatch DOID:0110985 Joubert syndrome 16 semapv:UnspecifiedMatching MONDO:0013764 Joubert syndrome 16 skos:exactMatch MEDGEN:482536 semapv:UnspecifiedMatching MONDO:0013764 Joubert syndrome 16 skos:exactMatch OMIM:614465 joubert syndrome 16 semapv:UnspecifiedMatching MONDO:0013764 Joubert syndrome 16 skos:exactMatch UMLS:C3280906 semapv:UnspecifiedMatching MONDO:0013765 coronary heart disease, susceptibility to, 6 skos:exactMatch MEDGEN:482543 semapv:UnspecifiedMatching MONDO:0013765 coronary heart disease, susceptibility to, 6 skos:exactMatch OMIM:614466 coronary heart disease, susceptibility to, 6 semapv:UnspecifiedMatching MONDO:0013765 coronary heart disease, susceptibility to, 6 skos:exactMatch UMLS:C3280913 semapv:UnspecifiedMatching MONDO:0013766 familial cold autoinflammatory syndrome 3 skos:exactMatch DOID:0090064 familial cold autoinflammatory syndrome 3 semapv:UnspecifiedMatching MONDO:0013766 familial cold autoinflammatory syndrome 3 skos:exactMatch MEDGEN:482544 semapv:UnspecifiedMatching MONDO:0013766 familial cold autoinflammatory syndrome 3 skos:exactMatch OMIM:614468 familial cold autoinflammatory syndrome 3 semapv:UnspecifiedMatching MONDO:0013766 familial cold autoinflammatory syndrome 3 skos:exactMatch Orphanet:300359 PLCG2-associated antibody deficiency and immune dysregulation semapv:UnspecifiedMatching MONDO:0013766 familial cold autoinflammatory syndrome 3 skos:exactMatch UMLS:C3280914 semapv:UnspecifiedMatching MONDO:0013767 autoimmune lymphoproliferative syndrome type 4 skos:exactMatch DOID:0110117 autoimmune lymphoproliferative syndrome type 4 semapv:UnspecifiedMatching MONDO:0013767 autoimmune lymphoproliferative syndrome type 4 skos:exactMatch MEDGEN:382434 semapv:UnspecifiedMatching MONDO:0013767 autoimmune lymphoproliferative syndrome type 4 skos:exactMatch OMIM:614470 ras-associated autoimmune leukoproliferative disorder semapv:UnspecifiedMatching MONDO:0013767 autoimmune lymphoproliferative syndrome type 4 skos:exactMatch Orphanet:268114 RAS-associated autoimmune leukoproliferative disease semapv:UnspecifiedMatching MONDO:0013767 autoimmune lymphoproliferative syndrome type 4 skos:exactMatch SCTID:723508002 semapv:UnspecifiedMatching MONDO:0013767 autoimmune lymphoproliferative syndrome type 4 skos:exactMatch UMLS:C2674723 semapv:UnspecifiedMatching MONDO:0013768 arterial calcification, generalized, of infancy, 2 skos:exactMatch MEDGEN:477791 semapv:UnspecifiedMatching MONDO:0013768 arterial calcification, generalized, of infancy, 2 skos:exactMatch OMIM:614473 arterial calcification, generalized, of infancy, 2 semapv:UnspecifiedMatching MONDO:0013768 arterial calcification, generalized, of infancy, 2 skos:exactMatch UMLS:C3276161 semapv:UnspecifiedMatching MONDO:0013769 atrioventricular septal defect 5 skos:exactMatch MEDGEN:482569 semapv:UnspecifiedMatching MONDO:0013769 atrioventricular septal defect 5 skos:exactMatch OMIM:614474 atrioventricular septal defect 5 semapv:UnspecifiedMatching MONDO:0013769 atrioventricular septal defect 5 skos:exactMatch UMLS:C3280939 semapv:UnspecifiedMatching MONDO:0013770 atrial septal defect 9 skos:exactMatch DOID:0110114 atrial heart septal defect 9 semapv:UnspecifiedMatching MONDO:0013770 atrial septal defect 9 skos:exactMatch MEDGEN:482573 semapv:UnspecifiedMatching MONDO:0013770 atrial septal defect 9 skos:exactMatch OMIM:614475 atrial septal defect 9 semapv:UnspecifiedMatching MONDO:0013770 atrial septal defect 9 skos:exactMatch UMLS:C3280943 semapv:UnspecifiedMatching MONDO:0013771 transient infantile hypertriglyceridemia and hepatosteatosis skos:exactMatch MEDGEN:482583 semapv:UnspecifiedMatching MONDO:0013771 transient infantile hypertriglyceridemia and hepatosteatosis skos:exactMatch OMIM:614480 hypertriglyceridemia, transient infantile semapv:UnspecifiedMatching MONDO:0013771 transient infantile hypertriglyceridemia and hepatosteatosis skos:exactMatch Orphanet:300293 Transient infantile hypertriglyceridemia and hepatosteatosis semapv:UnspecifiedMatching MONDO:0013771 transient infantile hypertriglyceridemia and hepatosteatosis skos:exactMatch UMLS:C3280953 semapv:UnspecifiedMatching MONDO:0013772 Huppke-Brendel syndrome skos:exactMatch MEDGEN:1659966 semapv:UnspecifiedMatching MONDO:0013772 Huppke-Brendel syndrome skos:exactMatch OMIM:614482 huppke-brendel syndrome semapv:UnspecifiedMatching MONDO:0013772 Huppke-Brendel syndrome skos:exactMatch Orphanet:300313 Congenital cataract-hearing loss-severe developmental delay syndrome semapv:UnspecifiedMatching MONDO:0013772 Huppke-Brendel syndrome skos:exactMatch UMLS:C4751114 semapv:UnspecifiedMatching MONDO:0013773 brain small vessel disease 2A, autosomal dominant skos:exactMatch DOID:0112314 brain small vessel disease 2 semapv:UnspecifiedMatching MONDO:0013773 brain small vessel disease 2A, autosomal dominant skos:exactMatch MEDGEN:482600 semapv:UnspecifiedMatching MONDO:0013773 brain small vessel disease 2A, autosomal dominant skos:exactMatch OMIM:614483 brain small vessel disease 2a, autosomal dominant semapv:UnspecifiedMatching MONDO:0013773 brain small vessel disease 2A, autosomal dominant skos:exactMatch UMLS:C3280970 semapv:UnspecifiedMatching MONDO:0013774 trigonocephaly 2 skos:exactMatch MEDGEN:482604 semapv:UnspecifiedMatching MONDO:0013774 trigonocephaly 2 skos:exactMatch OMIM:614485 trigonocephaly 2 semapv:UnspecifiedMatching MONDO:0013774 trigonocephaly 2 skos:exactMatch UMLS:C3280974 semapv:UnspecifiedMatching MONDO:0013775 thrombomodulin-related bleeding disorder skos:exactMatch DOID:0111908 thrombophilia due to thrombomodulin defect semapv:UnspecifiedMatching MONDO:0013775 thrombomodulin-related bleeding disorder skos:exactMatch MEDGEN:482606 semapv:UnspecifiedMatching MONDO:0013775 thrombomodulin-related bleeding disorder skos:exactMatch OMIM:614486 thrombophilia due to thrombomodulin defect semapv:UnspecifiedMatching MONDO:0013775 thrombomodulin-related bleeding disorder skos:exactMatch Orphanet:436169 Thrombomodulin-related bleeding disorder semapv:UnspecifiedMatching MONDO:0013775 thrombomodulin-related bleeding disorder skos:exactMatch UMLS:C3280976 semapv:UnspecifiedMatching MONDO:0013775 thrombomodulin-related bleeding disorder skos:exactMatch mesh:C566057 semapv:UnspecifiedMatching MONDO:0013776 spastic ataxia 5 skos:exactMatch DOID:0050944 spastic ataxia 5 semapv:UnspecifiedMatching MONDO:0013776 spastic ataxia 5 skos:exactMatch MEDGEN:482607 semapv:UnspecifiedMatching MONDO:0013776 spastic ataxia 5 skos:exactMatch OMIM:614487 spastic ataxia 5, autosomal recessive semapv:UnspecifiedMatching MONDO:0013776 spastic ataxia 5 skos:exactMatch Orphanet:313772 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome semapv:UnspecifiedMatching MONDO:0013776 spastic ataxia 5 skos:exactMatch UMLS:C3280977 semapv:UnspecifiedMatching MONDO:0013777 pseudohypoaldosteronism type 2B skos:exactMatch MEDGEN:374457 semapv:UnspecifiedMatching MONDO:0013777 pseudohypoaldosteronism type 2B skos:exactMatch OMIM:614491 pseudohypoaldosteronism, type 2b semapv:UnspecifiedMatching MONDO:0013777 pseudohypoaldosteronism type 2B skos:exactMatch Orphanet:88939 Pseudohypoaldosteronism type 2B semapv:UnspecifiedMatching MONDO:0013777 pseudohypoaldosteronism type 2B skos:exactMatch UMLS:C1840390 semapv:UnspecifiedMatching MONDO:0013777 pseudohypoaldosteronism type 2B skos:exactMatch icd11.foundation:853594829 Pseudohypoaldosteronism type 2B semapv:UnspecifiedMatching MONDO:0013777 pseudohypoaldosteronism type 2B skos:exactMatch mesh:C564161 semapv:UnspecifiedMatching MONDO:0013778 pseudohypoaldosteronism type 2C skos:exactMatch MEDGEN:327089 semapv:UnspecifiedMatching MONDO:0013778 pseudohypoaldosteronism type 2C skos:exactMatch OMIM:614492 pseudohypoaldosteronism, type 2c semapv:UnspecifiedMatching MONDO:0013778 pseudohypoaldosteronism type 2C skos:exactMatch Orphanet:88940 Pseudohypoaldosteronism type 2C semapv:UnspecifiedMatching MONDO:0013778 pseudohypoaldosteronism type 2C skos:exactMatch UMLS:C1840391 semapv:UnspecifiedMatching MONDO:0013778 pseudohypoaldosteronism type 2C skos:exactMatch icd11.foundation:1052840113 Pseudohypoaldosteronism type 2C semapv:UnspecifiedMatching MONDO:0013778 pseudohypoaldosteronism type 2C skos:exactMatch mesh:C564162 semapv:UnspecifiedMatching MONDO:0013779 Wiskott-Aldrich syndrome 2 skos:exactMatch MEDGEN:482631 semapv:UnspecifiedMatching MONDO:0013779 Wiskott-Aldrich syndrome 2 skos:exactMatch NCIT:C176820 Wiskott-Aldrich Syndrome 2 semapv:UnspecifiedMatching MONDO:0013779 Wiskott-Aldrich syndrome 2 skos:exactMatch OMIM:614493 wiskott-aldrich syndrome 2 semapv:UnspecifiedMatching MONDO:0013779 Wiskott-Aldrich syndrome 2 skos:exactMatch UMLS:C3281001 semapv:UnspecifiedMatching MONDO:0013780 retinitis pigmentosa 63 skos:exactMatch DOID:0110385 retinitis pigmentosa 63 semapv:UnspecifiedMatching MONDO:0013780 retinitis pigmentosa 63 skos:exactMatch MEDGEN:482632 semapv:UnspecifiedMatching MONDO:0013780 retinitis pigmentosa 63 skos:exactMatch OMIM:614494 retinitis pigmentosa 63 semapv:UnspecifiedMatching MONDO:0013780 retinitis pigmentosa 63 skos:exactMatch UMLS:C3281002 semapv:UnspecifiedMatching MONDO:0013781 pseudohypoaldosteronism type 2D skos:exactMatch MEDGEN:483335 semapv:UnspecifiedMatching MONDO:0013781 pseudohypoaldosteronism type 2D skos:exactMatch OMIM:614495 pseudohypoaldosteronism, type 2d semapv:UnspecifiedMatching MONDO:0013781 pseudohypoaldosteronism type 2D skos:exactMatch Orphanet:300525 Pseudohypoaldosteronism type 2D semapv:UnspecifiedMatching MONDO:0013781 pseudohypoaldosteronism type 2D skos:exactMatch UMLS:C3469605 semapv:UnspecifiedMatching MONDO:0013781 pseudohypoaldosteronism type 2D skos:exactMatch icd11.foundation:1679339588 Pseudohypoaldosteronism type 2D semapv:UnspecifiedMatching MONDO:0013782 pseudohypoaldosteronism type 2E skos:exactMatch MEDGEN:483336 semapv:UnspecifiedMatching MONDO:0013782 pseudohypoaldosteronism type 2E skos:exactMatch OMIM:614496 pseudohypoaldosteronism, type 2e semapv:UnspecifiedMatching MONDO:0013782 pseudohypoaldosteronism type 2E skos:exactMatch Orphanet:300530 Pseudohypoaldosteronism type 2E semapv:UnspecifiedMatching MONDO:0013782 pseudohypoaldosteronism type 2E skos:exactMatch UMLS:C3469606 semapv:UnspecifiedMatching MONDO:0013782 pseudohypoaldosteronism type 2E skos:exactMatch icd11.foundation:1263491925 Pseudohypoaldosteronism type 2E semapv:UnspecifiedMatching MONDO:0013783 microphthalmia, isolated, with coloboma 7 skos:exactMatch MEDGEN:482657 semapv:UnspecifiedMatching MONDO:0013783 microphthalmia, isolated, with coloboma 7 skos:exactMatch OMIM:614497 microphthalmia/coloboma 7 semapv:UnspecifiedMatching MONDO:0013783 microphthalmia, isolated, with coloboma 7 skos:exactMatch UMLS:C3281027 semapv:UnspecifiedMatching MONDO:0013784 neonatal-onset encephalopathy with rigidity and seizures skos:exactMatch MEDGEN:482659 semapv:UnspecifiedMatching MONDO:0013784 neonatal-onset encephalopathy with rigidity and seizures skos:exactMatch OMIM:614498 rigidity and multifocal seizure syndrome, lethal neonatal semapv:UnspecifiedMatching MONDO:0013784 neonatal-onset encephalopathy with rigidity and seizures skos:exactMatch Orphanet:435845 Lethal neonatal spasticity-epileptic encephalopathy syndrome semapv:UnspecifiedMatching MONDO:0013784 neonatal-onset encephalopathy with rigidity and seizures skos:exactMatch UMLS:C3281029 semapv:UnspecifiedMatching MONDO:0013785 intellectual disability, autosomal recessive 34 skos:exactMatch DOID:0081200 autosomal recessive intellectual developmental disorder 34 semapv:UnspecifiedMatching MONDO:0013785 intellectual disability, autosomal recessive 34 skos:exactMatch MEDGEN:482674 semapv:UnspecifiedMatching MONDO:0013785 intellectual disability, autosomal recessive 34 skos:exactMatch NCIT:C153179 Mental Retardation, Autosomal Recessive 34 semapv:UnspecifiedMatching MONDO:0013785 intellectual disability, autosomal recessive 34 skos:exactMatch OMIM:614499 intellectual developmental disorder, autosomal recessive 34, with variant lissencephaly semapv:UnspecifiedMatching MONDO:0013785 intellectual disability, autosomal recessive 34 skos:exactMatch UMLS:C3281044 semapv:UnspecifiedMatching MONDO:0013786 cone-rod dystrophy 16 skos:exactMatch DOID:0111022 cone-rod dystrophy 16 semapv:UnspecifiedMatching MONDO:0013786 cone-rod dystrophy 16 skos:exactMatch MEDGEN:482675 semapv:UnspecifiedMatching MONDO:0013786 cone-rod dystrophy 16 skos:exactMatch OMIM:614500 cone-rod dystrophy 16 semapv:UnspecifiedMatching MONDO:0013786 cone-rod dystrophy 16 skos:exactMatch UMLS:C3281045 semapv:UnspecifiedMatching MONDO:0013787 psychomotor retardation, epilepsy, and craniofacial dysmorphism skos:exactMatch MEDGEN:482685 semapv:UnspecifiedMatching MONDO:0013787 psychomotor retardation, epilepsy, and craniofacial dysmorphism skos:exactMatch OMIM:614501 neurodevelopmental disorder with hypotonia, craniofacial abnormalities, and seizures semapv:UnspecifiedMatching MONDO:0013787 psychomotor retardation, epilepsy, and craniofacial dysmorphism skos:exactMatch UMLS:C3281055 semapv:UnspecifiedMatching MONDO:0013788 Usher syndrome type 3B skos:exactMatch DOID:0110842 Usher syndrome type 3B semapv:UnspecifiedMatching MONDO:0013788 Usher syndrome type 3B skos:exactMatch MEDGEN:482696 semapv:UnspecifiedMatching MONDO:0013788 Usher syndrome type 3B skos:exactMatch OMIM:614504 usher syndrome, type 3b semapv:UnspecifiedMatching MONDO:0013788 Usher syndrome type 3B skos:exactMatch UMLS:C3281066 semapv:UnspecifiedMatching MONDO:0013789 DDOST-congenital disorder of glycosylation skos:exactMatch DOID:0080569 congenital disorder of glycosylation Ir semapv:UnspecifiedMatching MONDO:0013789 DDOST-congenital disorder of glycosylation skos:exactMatch MEDGEN:482714 semapv:UnspecifiedMatching MONDO:0013789 DDOST-congenital disorder of glycosylation skos:exactMatch OMIM:614507 congenital disorder of glycosylation, type ir semapv:UnspecifiedMatching MONDO:0013789 DDOST-congenital disorder of glycosylation skos:exactMatch Orphanet:300536 DDOST-CDG semapv:UnspecifiedMatching MONDO:0013789 DDOST-congenital disorder of glycosylation skos:exactMatch SCTID:733083006 semapv:UnspecifiedMatching MONDO:0013789 DDOST-congenital disorder of glycosylation skos:exactMatch UMLS:C3281084 semapv:UnspecifiedMatching MONDO:0013790 mirror movements 2 skos:exactMatch DOID:0070637 mirror movements 2 semapv:UnspecifiedMatching MONDO:0013790 mirror movements 2 skos:exactMatch MEDGEN:482719 semapv:UnspecifiedMatching MONDO:0013790 mirror movements 2 skos:exactMatch OMIM:614508 mirror movements 2 semapv:UnspecifiedMatching MONDO:0013790 mirror movements 2 skos:exactMatch UMLS:C3281089 semapv:UnspecifiedMatching MONDO:0013791 thrombophilia due to protein S deficiency, autosomal recessive skos:exactMatch MEDGEN:482722 semapv:UnspecifiedMatching MONDO:0013791 thrombophilia due to protein S deficiency, autosomal recessive skos:exactMatch OMIM:614514 thrombophilia due to protein s deficiency, autosomal recessive semapv:UnspecifiedMatching MONDO:0013791 thrombophilia due to protein S deficiency, autosomal recessive skos:exactMatch UMLS:C3281092 semapv:UnspecifiedMatching MONDO:0013792 intracerebral hemorrhage skos:exactMatch EFO:0005669 semapv:UnspecifiedMatching MONDO:0013792 intracerebral hemorrhage skos:exactMatch MEDGEN:423648 semapv:UnspecifiedMatching MONDO:0013792 intracerebral hemorrhage skos:exactMatch SCTID:274100004 semapv:UnspecifiedMatching MONDO:0013792 intracerebral hemorrhage skos:exactMatch UMLS:C2937358 semapv:UnspecifiedMatching MONDO:0013792 intracerebral hemorrhage skos:exactMatch icd11.foundation:873092535 Intracerebral haemorrhage semapv:UnspecifiedMatching MONDO:0013792 intracerebral hemorrhage skos:exactMatch mesh:D002543 semapv:UnspecifiedMatching MONDO:0013793 encephalomyopathy, mitochondrial, due to voltage-dependent anion channel deficiency skos:exactMatch MEDGEN:482736 semapv:UnspecifiedMatching MONDO:0013793 encephalomyopathy, mitochondrial, due to voltage-dependent anion channel deficiency skos:exactMatch OMIM:614520 encephalomyopathy, mitochondrial, due to voltage-dependent anion channel deficiency semapv:UnspecifiedMatching MONDO:0013793 encephalomyopathy, mitochondrial, due to voltage-dependent anion channel deficiency skos:exactMatch UMLS:C3281106 semapv:UnspecifiedMatching MONDO:0013794 thrombocythemia 3 skos:exactMatch MEDGEN:482755 semapv:UnspecifiedMatching MONDO:0013794 thrombocythemia 3 skos:exactMatch OMIM:614521 thrombocythemia 3 semapv:UnspecifiedMatching MONDO:0013794 thrombocythemia 3 skos:exactMatch UMLS:C3281125 semapv:UnspecifiedMatching MONDO:0013795 fibrochondrogenesis 2 skos:exactMatch DOID:0080673 fibrochondrogenesis 2 semapv:UnspecifiedMatching MONDO:0013795 fibrochondrogenesis 2 skos:exactMatch MEDGEN:482758 semapv:UnspecifiedMatching MONDO:0013795 fibrochondrogenesis 2 skos:exactMatch OMIM:614524 fibrochondrogenesis 2 semapv:UnspecifiedMatching MONDO:0013795 fibrochondrogenesis 2 skos:exactMatch UMLS:C3281128 semapv:UnspecifiedMatching MONDO:0013796 chromosome 17q12 duplication syndrome skos:exactMatch DOID:0060433 chromosome 17q12 duplication syndrome semapv:UnspecifiedMatching MONDO:0013796 chromosome 17q12 duplication syndrome skos:exactMatch MEDGEN:482767 semapv:UnspecifiedMatching MONDO:0013796 chromosome 17q12 duplication syndrome skos:exactMatch OMIM:614526 chromosome 17q12 duplication syndrome semapv:UnspecifiedMatching MONDO:0013796 chromosome 17q12 duplication syndrome skos:exactMatch Orphanet:261272 17q12 microduplication syndrome semapv:UnspecifiedMatching MONDO:0013796 chromosome 17q12 duplication syndrome skos:exactMatch SCTID:764435003 semapv:UnspecifiedMatching MONDO:0013796 chromosome 17q12 duplication syndrome skos:exactMatch UMLS:C3281137 semapv:UnspecifiedMatching MONDO:0013797 chromosome 17q12 deletion syndrome skos:exactMatch DOID:0060404 chromosome 17q12 deletion syndrome semapv:UnspecifiedMatching MONDO:0013797 chromosome 17q12 deletion syndrome skos:exactMatch MEDGEN:482768 semapv:UnspecifiedMatching MONDO:0013797 chromosome 17q12 deletion syndrome skos:exactMatch OMIM:614527 chromosome 17q12 deletion syndrome semapv:UnspecifiedMatching MONDO:0013797 chromosome 17q12 deletion syndrome skos:exactMatch Orphanet:261265 17q12 microdeletion syndrome semapv:UnspecifiedMatching MONDO:0013797 chromosome 17q12 deletion syndrome skos:exactMatch SCTID:733519008 semapv:UnspecifiedMatching MONDO:0013797 chromosome 17q12 deletion syndrome skos:exactMatch UMLS:C3281138 semapv:UnspecifiedMatching MONDO:0013798 chromosome 16q22 deletion syndrome skos:exactMatch DOID:0060401 chromosome 16q22 deletion syndrome semapv:UnspecifiedMatching MONDO:0013798 chromosome 16q22 deletion syndrome skos:exactMatch MEDGEN:482782 semapv:UnspecifiedMatching MONDO:0013798 chromosome 16q22 deletion syndrome skos:exactMatch OMIM:614541 chromosome 16q22 deletion syndrome semapv:UnspecifiedMatching MONDO:0013798 chromosome 16q22 deletion syndrome skos:exactMatch Orphanet:658540 16q22 deletion syndrome semapv:UnspecifiedMatching MONDO:0013798 chromosome 16q22 deletion syndrome skos:exactMatch UMLS:C3281152 semapv:UnspecifiedMatching MONDO:0013799 obsolete efavirenz, poor metabolism of skos:exactMatch OMIM:614546 efavirenz, poor metabolism of semapv:UnspecifiedMatching MONDO:0013800 Ehlers-Danlos syndrome, kyphoscoliotic type, 2 skos:exactMatch MEDGEN:482790 semapv:UnspecifiedMatching MONDO:0013800 Ehlers-Danlos syndrome, kyphoscoliotic type, 2 skos:exactMatch OMIM:614557 ehlers-danlos syndrome, kyphoscoliotic type, 2 semapv:UnspecifiedMatching MONDO:0013800 Ehlers-Danlos syndrome, kyphoscoliotic type, 2 skos:exactMatch Orphanet:300179 Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency semapv:UnspecifiedMatching MONDO:0013800 Ehlers-Danlos syndrome, kyphoscoliotic type, 2 skos:exactMatch SCTID:720859009 semapv:UnspecifiedMatching MONDO:0013800 Ehlers-Danlos syndrome, kyphoscoliotic type, 2 skos:exactMatch UMLS:C3281160 semapv:UnspecifiedMatching MONDO:0013801 developmental and epileptic encephalopathy, 13 skos:exactMatch DOID:0080445 developmental and epileptic encephalopathy 13 semapv:UnspecifiedMatching MONDO:0013801 developmental and epileptic encephalopathy, 13 skos:exactMatch MEDGEN:482821 semapv:UnspecifiedMatching MONDO:0013801 developmental and epileptic encephalopathy, 13 skos:exactMatch OMIM:614558 developmental and epileptic encephalopathy 13 semapv:UnspecifiedMatching MONDO:0013801 developmental and epileptic encephalopathy, 13 skos:exactMatch SCTID:765170001 semapv:UnspecifiedMatching MONDO:0013801 developmental and epileptic encephalopathy, 13 skos:exactMatch UMLS:C3281191 semapv:UnspecifiedMatching MONDO:0013802 infantile cerebellar-retinal degeneration skos:exactMatch DOID:0050883 infantile cerebellar-retinal degeneration semapv:UnspecifiedMatching MONDO:0013802 infantile cerebellar-retinal degeneration skos:exactMatch MEDGEN:482822 semapv:UnspecifiedMatching MONDO:0013802 infantile cerebellar-retinal degeneration skos:exactMatch OMIM:614559 infantile cerebellar-retinal degeneration semapv:UnspecifiedMatching MONDO:0013802 infantile cerebellar-retinal degeneration skos:exactMatch Orphanet:313850 Infantile cerebellar-retinal degeneration semapv:UnspecifiedMatching MONDO:0013802 infantile cerebellar-retinal degeneration skos:exactMatch UMLS:C3281192 semapv:UnspecifiedMatching MONDO:0013803 leukoencephalopathy with calcifications and cysts skos:exactMatch MEDGEN:482830 semapv:UnspecifiedMatching MONDO:0013803 leukoencephalopathy with calcifications and cysts skos:exactMatch OMIM:614561 leukoencephalopathy, brain calcifications, and cysts semapv:UnspecifiedMatching MONDO:0013803 leukoencephalopathy with calcifications and cysts skos:exactMatch Orphanet:542310 Leukoencephalopathy with calcifications and cysts semapv:UnspecifiedMatching MONDO:0013803 leukoencephalopathy with calcifications and cysts skos:exactMatch UMLS:C3281200 semapv:UnspecifiedMatching MONDO:0013803 leukoencephalopathy with calcifications and cysts skos:exactMatch mesh:C000598644 semapv:UnspecifiedMatching MONDO:0013805 intellectual disability, autosomal dominant 13 skos:exactMatch DOID:0061144 complex cortical dysplasia with other brain malformations 13 semapv:UnspecifiedMatching MONDO:0013805 intellectual disability, autosomal dominant 13 skos:exactMatch DOID:0070043 autosomal dominant intellectual developmental disorder 13 semapv:UnspecifiedMatching MONDO:0013805 intellectual disability, autosomal dominant 13 skos:exactMatch MEDGEN:482832 semapv:UnspecifiedMatching MONDO:0013805 intellectual disability, autosomal dominant 13 skos:exactMatch OMIM:614563 cortical dysplasia, complex, with other brain malformations 13 semapv:UnspecifiedMatching MONDO:0013805 intellectual disability, autosomal dominant 13 skos:exactMatch UMLS:C3281202 semapv:UnspecifiedMatching MONDO:0013806 familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome skos:exactMatch MEDGEN:482833 semapv:UnspecifiedMatching MONDO:0013806 familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome skos:exactMatch OMIM:614564 cutaneous telangiectasia and cancer syndrome, familial semapv:UnspecifiedMatching MONDO:0013806 familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome skos:exactMatch Orphanet:313846 Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome semapv:UnspecifiedMatching MONDO:0013806 familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome skos:exactMatch UMLS:C3281203 semapv:UnspecifiedMatching MONDO:0013807 congenital stationary night blindness 1E skos:exactMatch DOID:0110869 congenital stationary night blindness 1E semapv:UnspecifiedMatching MONDO:0013807 congenital stationary night blindness 1E skos:exactMatch MEDGEN:482845 semapv:UnspecifiedMatching MONDO:0013807 congenital stationary night blindness 1E skos:exactMatch OMIM:614565 night blindness, congenital stationary, type 1e semapv:UnspecifiedMatching MONDO:0013807 congenital stationary night blindness 1E skos:exactMatch UMLS:C3281215 semapv:UnspecifiedMatching MONDO:0013808 Maffucci syndrome skos:exactMatch DOID:0060221 Maffucci syndrome semapv:UnspecifiedMatching MONDO:0013808 Maffucci syndrome skos:exactMatch MEDGEN:7437 semapv:UnspecifiedMatching MONDO:0013808 Maffucci syndrome skos:exactMatch NCIT:C3213 Maffucci Syndrome semapv:UnspecifiedMatching MONDO:0013808 Maffucci syndrome skos:exactMatch OMIM:614569 multiple enchondromatosis, maffucci type semapv:UnspecifiedMatching MONDO:0013808 Maffucci syndrome skos:exactMatch Orphanet:163634 Maffucci syndrome semapv:UnspecifiedMatching MONDO:0013808 Maffucci syndrome skos:exactMatch SCTID:46041001 semapv:UnspecifiedMatching MONDO:0013808 Maffucci syndrome skos:exactMatch UMLS:C0024454 semapv:UnspecifiedMatching MONDO:0013808 Maffucci syndrome skos:exactMatch icd11.foundation:548780091 Maffucci syndrome semapv:UnspecifiedMatching MONDO:0013810 COG6-congenital disorder of glycosylation skos:exactMatch DOID:0070264 congenital disorder of glycosylation type IIl semapv:UnspecifiedMatching MONDO:0013810 COG6-congenital disorder of glycosylation skos:exactMatch MEDGEN:766144 semapv:UnspecifiedMatching MONDO:0013810 COG6-congenital disorder of glycosylation skos:exactMatch OMIM:614576 congenital disorder of glycosylation, type iil semapv:UnspecifiedMatching MONDO:0013810 COG6-congenital disorder of glycosylation skos:exactMatch Orphanet:464443 COG6-CGD semapv:UnspecifiedMatching MONDO:0013810 COG6-congenital disorder of glycosylation skos:exactMatch UMLS:C3553230 semapv:UnspecifiedMatching MONDO:0013811 combined oxidative phosphorylation defect type 9 skos:exactMatch DOID:0111472 combined oxidative phosphorylation deficiency 9 semapv:UnspecifiedMatching MONDO:0013811 combined oxidative phosphorylation defect type 9 skos:exactMatch MEDGEN:1634481 semapv:UnspecifiedMatching MONDO:0013811 combined oxidative phosphorylation defect type 9 skos:exactMatch OMIM:614582 combined oxidative phosphorylation deficiency 9 semapv:UnspecifiedMatching MONDO:0013811 combined oxidative phosphorylation defect type 9 skos:exactMatch Orphanet:319509 Combined oxidative phosphorylation defect type 9 semapv:UnspecifiedMatching MONDO:0013811 combined oxidative phosphorylation defect type 9 skos:exactMatch SCTID:763209008 semapv:UnspecifiedMatching MONDO:0013811 combined oxidative phosphorylation defect type 9 skos:exactMatch UMLS:C4706315 semapv:UnspecifiedMatching MONDO:0013812 Baraitser-winter syndrome 2 skos:exactMatch DOID:0081113 Baraitser-Winter syndrome 2 semapv:UnspecifiedMatching MONDO:0013812 Baraitser-winter syndrome 2 skos:exactMatch MEDGEN:482865 semapv:UnspecifiedMatching MONDO:0013812 Baraitser-winter syndrome 2 skos:exactMatch OMIM:614583 baraitser-winter syndrome 2 semapv:UnspecifiedMatching MONDO:0013812 Baraitser-winter syndrome 2 skos:exactMatch UMLS:C3281235 semapv:UnspecifiedMatching MONDO:0013813 dystonia 21 skos:exactMatch DOID:0090046 dystonia 21 semapv:UnspecifiedMatching MONDO:0013813 dystonia 21 skos:exactMatch MEDGEN:482866 semapv:UnspecifiedMatching MONDO:0013813 dystonia 21 skos:exactMatch OMIM:614588 dystonia 21 semapv:UnspecifiedMatching MONDO:0013813 dystonia 21 skos:exactMatch Orphanet:306734 Primary dystonia, DYT21 type semapv:UnspecifiedMatching MONDO:0013813 dystonia 21 skos:exactMatch UMLS:C3281236 semapv:UnspecifiedMatching MONDO:0013814 podoconiosis, susceptibility to skos:exactMatch MEDGEN:482875 semapv:UnspecifiedMatching MONDO:0013814 podoconiosis, susceptibility to skos:exactMatch OMIM:614590 podoconiosis, susceptibility to semapv:UnspecifiedMatching MONDO:0013814 podoconiosis, susceptibility to skos:exactMatch UMLS:C3281245 semapv:UnspecifiedMatching MONDO:0013815 bent bone dysplasia syndrome 1 skos:exactMatch DOID:0060992 bent bone dysplasia syndrome 1 semapv:UnspecifiedMatching MONDO:0013815 bent bone dysplasia syndrome 1 skos:exactMatch MEDGEN:482877 semapv:UnspecifiedMatching MONDO:0013815 bent bone dysplasia syndrome 1 skos:exactMatch OMIM:614592 bent bone dysplasia syndrome 1 semapv:UnspecifiedMatching MONDO:0013815 bent bone dysplasia syndrome 1 skos:exactMatch Orphanet:313855 FGFR2-related bent bone dysplasia semapv:UnspecifiedMatching MONDO:0013815 bent bone dysplasia syndrome 1 skos:exactMatch UMLS:C3281247 semapv:UnspecifiedMatching MONDO:0013817 preeclampsia/eclampsia 5 skos:exactMatch MEDGEN:482918 semapv:UnspecifiedMatching MONDO:0013817 preeclampsia/eclampsia 5 skos:exactMatch OMIM:614595 preeclampsia/eclampsia 5 semapv:UnspecifiedMatching MONDO:0013817 preeclampsia/eclampsia 5 skos:exactMatch UMLS:C3281288 semapv:UnspecifiedMatching MONDO:0013818 trichohepatoenteric syndrome 2 skos:exactMatch DOID:0111416 trichohepatoenteric syndrome 2 semapv:UnspecifiedMatching MONDO:0013818 trichohepatoenteric syndrome 2 skos:exactMatch MEDGEN:482919 semapv:UnspecifiedMatching MONDO:0013818 trichohepatoenteric syndrome 2 skos:exactMatch OMIM:614602 trichohepatoenteric syndrome 2 semapv:UnspecifiedMatching MONDO:0013818 trichohepatoenteric syndrome 2 skos:exactMatch UMLS:C3281289 semapv:UnspecifiedMatching MONDO:0013819 intellectual disability, autosomal dominant 14 skos:exactMatch DOID:0070044 Coffin-Siris syndrome 2 semapv:UnspecifiedMatching MONDO:0013819 intellectual disability, autosomal dominant 14 skos:exactMatch MEDGEN:766161 semapv:UnspecifiedMatching MONDO:0013819 intellectual disability, autosomal dominant 14 skos:exactMatch OMIM:614607 coffin-siris syndrome 2 semapv:UnspecifiedMatching MONDO:0013819 intellectual disability, autosomal dominant 14 skos:exactMatch UMLS:C3553247 semapv:UnspecifiedMatching MONDO:0013820 intellectual disability, autosomal dominant 15 skos:exactMatch DOID:0070045 Coffin-Siris syndrome 3 semapv:UnspecifiedMatching MONDO:0013820 intellectual disability, autosomal dominant 15 skos:exactMatch MEDGEN:766162 semapv:UnspecifiedMatching MONDO:0013820 intellectual disability, autosomal dominant 15 skos:exactMatch OMIM:614608 coffin-siris syndrome 3 semapv:UnspecifiedMatching MONDO:0013820 intellectual disability, autosomal dominant 15 skos:exactMatch UMLS:C3553248 semapv:UnspecifiedMatching MONDO:0013821 intellectual disability, autosomal dominant 16 skos:exactMatch DOID:0070046 Coffin-Siris syndrome 4 semapv:UnspecifiedMatching MONDO:0013821 intellectual disability, autosomal dominant 16 skos:exactMatch MEDGEN:766163 semapv:UnspecifiedMatching MONDO:0013821 intellectual disability, autosomal dominant 16 skos:exactMatch OMIM:614609 coffin-siris syndrome 4 semapv:UnspecifiedMatching MONDO:0013821 intellectual disability, autosomal dominant 16 skos:exactMatch UMLS:C3553249 semapv:UnspecifiedMatching MONDO:0013822 acrodysostosis 2 with or without hormone resistance skos:exactMatch MEDGEN:766164 semapv:UnspecifiedMatching MONDO:0013822 acrodysostosis 2 with or without hormone resistance skos:exactMatch OMIM:614613 acrodysostosis 2 with or without hormone resistance semapv:UnspecifiedMatching MONDO:0013822 acrodysostosis 2 with or without hormone resistance skos:exactMatch UMLS:C3553250 semapv:UnspecifiedMatching MONDO:0013823 autosomal dominant nonsyndromic hearing loss 4B skos:exactMatch DOID:0110574 autosomal dominant nonsyndromic deafness 4B semapv:UnspecifiedMatching MONDO:0013823 autosomal dominant nonsyndromic hearing loss 4B skos:exactMatch MEDGEN:482927 semapv:UnspecifiedMatching MONDO:0013823 autosomal dominant nonsyndromic hearing loss 4B skos:exactMatch OMIM:614614 deafness, autosomal dominant 4b semapv:UnspecifiedMatching MONDO:0013823 autosomal dominant nonsyndromic hearing loss 4B skos:exactMatch UMLS:C3281297 semapv:UnspecifiedMatching MONDO:0013824 Joubert syndrome 17 skos:exactMatch DOID:0110986 Joubert syndrome 17 semapv:UnspecifiedMatching MONDO:0013824 Joubert syndrome 17 skos:exactMatch MEDGEN:766178 semapv:UnspecifiedMatching MONDO:0013824 Joubert syndrome 17 skos:exactMatch NCIT:C175702 Joubert Syndrome 17 semapv:UnspecifiedMatching MONDO:0013824 Joubert syndrome 17 skos:exactMatch OMIM:614615 joubert syndrome 17 semapv:UnspecifiedMatching MONDO:0013824 Joubert syndrome 17 skos:exactMatch UMLS:C3553264 semapv:UnspecifiedMatching MONDO:0013825 congenital diarrhea 6 skos:exactMatch DOID:0060780 congenital diarrhea 6 semapv:UnspecifiedMatching MONDO:0013825 congenital diarrhea 6 skos:exactMatch MEDGEN:766184 semapv:UnspecifiedMatching MONDO:0013825 congenital diarrhea 6 skos:exactMatch OMIM:614616 diarrhea 6 semapv:UnspecifiedMatching MONDO:0013825 congenital diarrhea 6 skos:exactMatch Orphanet:314373 Chronic infantile diarrhea due to guanylate cyclase 2C overactivity semapv:UnspecifiedMatching MONDO:0013825 congenital diarrhea 6 skos:exactMatch UMLS:C3553270 semapv:UnspecifiedMatching MONDO:0013826 autosomal recessive nonsyndromic hearing loss 86 skos:exactMatch DOID:0110532 autosomal recessive nonsyndromic deafness 86 semapv:UnspecifiedMatching MONDO:0013826 autosomal recessive nonsyndromic hearing loss 86 skos:exactMatch MEDGEN:760543 semapv:UnspecifiedMatching MONDO:0013826 autosomal recessive nonsyndromic hearing loss 86 skos:exactMatch OMIM:614617 deafness, autosomal recessive 86 semapv:UnspecifiedMatching MONDO:0013826 autosomal recessive nonsyndromic hearing loss 86 skos:exactMatch UMLS:C2829265 semapv:UnspecifiedMatching MONDO:0013827 hyperekplexia 3 skos:exactMatch DOID:0060698 hyperekplexia 3 semapv:UnspecifiedMatching MONDO:0013827 hyperekplexia 3 skos:exactMatch MEDGEN:766202 semapv:UnspecifiedMatching MONDO:0013827 hyperekplexia 3 skos:exactMatch OMIM:614618 hyperekplexia 3 semapv:UnspecifiedMatching MONDO:0013827 hyperekplexia 3 skos:exactMatch UMLS:C3553288 semapv:UnspecifiedMatching MONDO:0013828 hyperekplexia 2 skos:exactMatch DOID:0060697 hyperekplexia 2 semapv:UnspecifiedMatching MONDO:0013828 hyperekplexia 2 skos:exactMatch MEDGEN:766205 semapv:UnspecifiedMatching MONDO:0013828 hyperekplexia 2 skos:exactMatch OMIM:614619 hyperekplexia 2 semapv:UnspecifiedMatching MONDO:0013828 hyperekplexia 2 skos:exactMatch UMLS:C3553291 semapv:UnspecifiedMatching MONDO:0013829 UV-sensitive syndrome 2 skos:exactMatch MEDGEN:766212 semapv:UnspecifiedMatching MONDO:0013829 UV-sensitive syndrome 2 skos:exactMatch NCIT:C173110 UV-Sensitive Syndrome 2 semapv:UnspecifiedMatching MONDO:0013829 UV-sensitive syndrome 2 skos:exactMatch OMIM:614621 uv-sensitive syndrome 2 semapv:UnspecifiedMatching MONDO:0013829 UV-sensitive syndrome 2 skos:exactMatch UMLS:C3553298 semapv:UnspecifiedMatching MONDO:0013830 keratoconus 5 skos:exactMatch MEDGEN:766216 semapv:UnspecifiedMatching MONDO:0013830 keratoconus 5 skos:exactMatch OMIM:614622 keratoconus 5 semapv:UnspecifiedMatching MONDO:0013830 keratoconus 5 skos:exactMatch UMLS:C3553302 semapv:UnspecifiedMatching MONDO:0013831 keratoconus 6 skos:exactMatch MEDGEN:766220 semapv:UnspecifiedMatching MONDO:0013831 keratoconus 6 skos:exactMatch OMIM:614623 keratoconus 6 semapv:UnspecifiedMatching MONDO:0013831 keratoconus 6 skos:exactMatch UMLS:C3553306 semapv:UnspecifiedMatching MONDO:0013832 keratoconus 8 skos:exactMatch MEDGEN:766221 semapv:UnspecifiedMatching MONDO:0013832 keratoconus 8 skos:exactMatch OMIM:614628 keratoconus 8 semapv:UnspecifiedMatching MONDO:0013832 keratoconus 8 skos:exactMatch UMLS:C3553307 semapv:UnspecifiedMatching MONDO:0013833 keratoconus 7 skos:exactMatch MEDGEN:766222 semapv:UnspecifiedMatching MONDO:0013833 keratoconus 7 skos:exactMatch OMIM:614629 keratoconus 7 semapv:UnspecifiedMatching MONDO:0013833 keratoconus 7 skos:exactMatch UMLS:C3553308 semapv:UnspecifiedMatching MONDO:0013834 UV-sensitive syndrome 3 skos:exactMatch MEDGEN:766242 semapv:UnspecifiedMatching MONDO:0013834 UV-sensitive syndrome 3 skos:exactMatch NCIT:C173107 UV-Sensitive Syndrome 3 semapv:UnspecifiedMatching MONDO:0013834 UV-sensitive syndrome 3 skos:exactMatch OMIM:614640 uv-sensitive syndrome 3 semapv:UnspecifiedMatching MONDO:0013834 UV-sensitive syndrome 3 skos:exactMatch UMLS:C3553328 semapv:UnspecifiedMatching MONDO:0013835 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 skos:exactMatch DOID:0111234 congenital muscular dystrophy-dystroglycanopathy type A7 semapv:UnspecifiedMatching MONDO:0013835 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 skos:exactMatch MEDGEN:766244 semapv:UnspecifiedMatching MONDO:0013835 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 skos:exactMatch OMIM:614643 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7 semapv:UnspecifiedMatching MONDO:0013835 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 skos:exactMatch UMLS:C3553330 semapv:UnspecifiedMatching MONDO:0013836 familial steroid-resistant nephrotic syndrome with sensorineural deafness skos:exactMatch DOID:0070243 primary coenzyme Q10 deficiency 6 semapv:UnspecifiedMatching MONDO:0013836 familial steroid-resistant nephrotic syndrome with sensorineural deafness skos:exactMatch MEDGEN:766263 semapv:UnspecifiedMatching MONDO:0013836 familial steroid-resistant nephrotic syndrome with sensorineural deafness skos:exactMatch OMIM:614650 coenzyme Q10 deficiency, primary, 6 semapv:UnspecifiedMatching MONDO:0013836 familial steroid-resistant nephrotic syndrome with sensorineural deafness skos:exactMatch Orphanet:280406 Familial steroid-resistant nephrotic syndrome with sensorineural deafness semapv:UnspecifiedMatching MONDO:0013836 familial steroid-resistant nephrotic syndrome with sensorineural deafness skos:exactMatch UMLS:C3553349 semapv:UnspecifiedMatching MONDO:0013837 deafness-encephaloneuropathy-obesity-valvulopathy syndrome skos:exactMatch DOID:0070239 primary coenzyme Q10 deficiency 2 semapv:UnspecifiedMatching MONDO:0013837 deafness-encephaloneuropathy-obesity-valvulopathy syndrome skos:exactMatch MEDGEN:766268 semapv:UnspecifiedMatching MONDO:0013837 deafness-encephaloneuropathy-obesity-valvulopathy syndrome skos:exactMatch OMIM:614651 coenzyme Q10 deficiency, primary, 2 semapv:UnspecifiedMatching MONDO:0013837 deafness-encephaloneuropathy-obesity-valvulopathy syndrome skos:exactMatch Orphanet:254898 Deafness-encephaloneuropathy-obesity-valvulopathy syndrome semapv:UnspecifiedMatching MONDO:0013837 deafness-encephaloneuropathy-obesity-valvulopathy syndrome skos:exactMatch UMLS:C3553354 semapv:UnspecifiedMatching MONDO:0013838 coenzyme Q10 deficiency, primary, 3 skos:exactMatch DOID:0070240 primary coenzyme Q10 deficiency 3 semapv:UnspecifiedMatching MONDO:0013838 coenzyme Q10 deficiency, primary, 3 skos:exactMatch MEDGEN:766272 semapv:UnspecifiedMatching MONDO:0013838 coenzyme Q10 deficiency, primary, 3 skos:exactMatch OMIM:614652 coenzyme Q10 deficiency, primary, 3 semapv:UnspecifiedMatching MONDO:0013838 coenzyme Q10 deficiency, primary, 3 skos:exactMatch UMLS:C3553358 semapv:UnspecifiedMatching MONDO:0013839 hereditary sensory and autonomic neuropathy type 6 skos:exactMatch DOID:0070151 hereditary sensory and autonomic neuropathy type 6 semapv:UnspecifiedMatching MONDO:0013839 hereditary sensory and autonomic neuropathy type 6 skos:exactMatch MEDGEN:761278 semapv:UnspecifiedMatching MONDO:0013839 hereditary sensory and autonomic neuropathy type 6 skos:exactMatch OMIM:614653 neuropathy, hereditary sensory and autonomic, type 6 semapv:UnspecifiedMatching MONDO:0013839 hereditary sensory and autonomic neuropathy type 6 skos:exactMatch Orphanet:314381 Hereditary sensory and autonomic neuropathy type 6 semapv:UnspecifiedMatching MONDO:0013839 hereditary sensory and autonomic neuropathy type 6 skos:exactMatch UMLS:C3539003 semapv:UnspecifiedMatching MONDO:0013840 encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome skos:exactMatch DOID:0070242 primary coenzyme Q10 deficiency 5 semapv:UnspecifiedMatching MONDO:0013840 encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome skos:exactMatch MEDGEN:766288 semapv:UnspecifiedMatching MONDO:0013840 encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome skos:exactMatch OMIM:614654 coenzyme Q10 deficiency, primary, 5 semapv:UnspecifiedMatching MONDO:0013840 encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome skos:exactMatch Orphanet:319678 Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome semapv:UnspecifiedMatching MONDO:0013840 encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome skos:exactMatch UMLS:C3553374 semapv:UnspecifiedMatching MONDO:0013841 stuttering, familial persistent, 3 skos:exactMatch MEDGEN:766295 semapv:UnspecifiedMatching MONDO:0013841 stuttering, familial persistent, 3 skos:exactMatch OMIM:614655 stuttering, familial persistent, 3 semapv:UnspecifiedMatching MONDO:0013841 stuttering, familial persistent, 3 skos:exactMatch UMLS:C3553381 semapv:UnspecifiedMatching MONDO:0013842 cortisone reductase deficiency 2 skos:exactMatch DOID:0090140 cortisone reductase deficiency 2 semapv:UnspecifiedMatching MONDO:0013842 cortisone reductase deficiency 2 skos:exactMatch MEDGEN:766296 semapv:UnspecifiedMatching MONDO:0013842 cortisone reductase deficiency 2 skos:exactMatch NCIT:C131084 11-Beta-Hydroxysteroid Dehydrogenase Type 1 Deficiency semapv:UnspecifiedMatching MONDO:0013842 cortisone reductase deficiency 2 skos:exactMatch OMIM:614662 cortisone reductase deficiency 2 semapv:UnspecifiedMatching MONDO:0013842 cortisone reductase deficiency 2 skos:exactMatch UMLS:C3553382 semapv:UnspecifiedMatching MONDO:0013843 intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency skos:exactMatch MEDGEN:1390359 semapv:UnspecifiedMatching MONDO:0013843 intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency skos:exactMatch OMIM:614665 meconium ileus semapv:UnspecifiedMatching MONDO:0013843 intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency skos:exactMatch Orphanet:314376 Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency semapv:UnspecifiedMatching MONDO:0013843 intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency skos:exactMatch SCTID:733447005 semapv:UnspecifiedMatching MONDO:0013843 intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency skos:exactMatch UMLS:C4518781 semapv:UnspecifiedMatching MONDO:0013844 stuttering, familial persistent, 4 skos:exactMatch MEDGEN:766317 semapv:UnspecifiedMatching MONDO:0013844 stuttering, familial persistent, 4 skos:exactMatch OMIM:614668 stuttering, familial persistent, 4 semapv:UnspecifiedMatching MONDO:0013844 stuttering, familial persistent, 4 skos:exactMatch UMLS:C3553403 semapv:UnspecifiedMatching MONDO:0013845 auriculocondylar syndrome 2 skos:exactMatch MEDGEN:766318 semapv:UnspecifiedMatching MONDO:0013845 auriculocondylar syndrome 2 skos:exactMatch OMIM:614669 auriculocondylar syndrome 2a semapv:UnspecifiedMatching MONDO:0013845 auriculocondylar syndrome 2 skos:exactMatch UMLS:C3553404 semapv:UnspecifiedMatching MONDO:0013846 peripartum cardiomyopathy, susceptibility to skos:exactMatch MEDGEN:766320 semapv:UnspecifiedMatching MONDO:0013846 peripartum cardiomyopathy, susceptibility to skos:exactMatch OMIM:614670 peripartum cardiomyopathy, susceptibility to semapv:UnspecifiedMatching MONDO:0013846 peripartum cardiomyopathy, susceptibility to skos:exactMatch UMLS:C3553406 semapv:UnspecifiedMatching MONDO:0013847 chromosome 16p11.2 duplication syndrome skos:exactMatch DOID:0060430 chromosome 16p11.2 duplication syndrome semapv:UnspecifiedMatching MONDO:0013847 chromosome 16p11.2 duplication syndrome skos:exactMatch MEDGEN:766321 semapv:UnspecifiedMatching MONDO:0013847 chromosome 16p11.2 duplication syndrome skos:exactMatch OMIM:614671 chromosome 16p11.2 duplication syndrome semapv:UnspecifiedMatching MONDO:0013847 chromosome 16p11.2 duplication syndrome skos:exactMatch Orphanet:370079 Proximal 16p11.2 microduplication syndrome semapv:UnspecifiedMatching MONDO:0013847 chromosome 16p11.2 duplication syndrome skos:exactMatch SCTID:765142003 semapv:UnspecifiedMatching MONDO:0013847 chromosome 16p11.2 duplication syndrome skos:exactMatch UMLS:C3553407 semapv:UnspecifiedMatching MONDO:0013848 dilated cardiomyopathy 2B skos:exactMatch DOID:0110441 dilated cardiomyopathy 2B semapv:UnspecifiedMatching MONDO:0013848 dilated cardiomyopathy 2B skos:exactMatch MEDGEN:766323 semapv:UnspecifiedMatching MONDO:0013848 dilated cardiomyopathy 2B skos:exactMatch OMIM:614672 cardiomyopathy, dilated, 2b semapv:UnspecifiedMatching MONDO:0013848 dilated cardiomyopathy 2B skos:exactMatch UMLS:C3553409 semapv:UnspecifiedMatching MONDO:0013849 microcephaly 8, primary, autosomal recessive skos:exactMatch DOID:0070282 primary autosomal recessive microcephaly 8 semapv:UnspecifiedMatching MONDO:0013849 microcephaly 8, primary, autosomal recessive skos:exactMatch MEDGEN:766328 semapv:UnspecifiedMatching MONDO:0013849 microcephaly 8, primary, autosomal recessive skos:exactMatch OMIM:614673 microcephaly 8, primary, autosomal recessive semapv:UnspecifiedMatching MONDO:0013849 microcephaly 8, primary, autosomal recessive skos:exactMatch UMLS:C3553414 semapv:UnspecifiedMatching MONDO:0013851 autosomal dominant aplasia and myelodysplasia skos:exactMatch MEDGEN:814883 semapv:UnspecifiedMatching MONDO:0013851 autosomal dominant aplasia and myelodysplasia skos:exactMatch OMIM:614675 bone marrow failure syndrome 1 semapv:UnspecifiedMatching MONDO:0013851 autosomal dominant aplasia and myelodysplasia skos:exactMatch Orphanet:314399 Autosomal dominant aplasia and myelodysplasia semapv:UnspecifiedMatching MONDO:0013851 autosomal dominant aplasia and myelodysplasia skos:exactMatch UMLS:C3808553 semapv:UnspecifiedMatching MONDO:0013852 hypertrophic cardiomyopathy 21 skos:exactMatch DOID:0110311 hypertrophic cardiomyopathy 21 semapv:UnspecifiedMatching MONDO:0013852 hypertrophic cardiomyopathy 21 skos:exactMatch MEDGEN:766356 semapv:UnspecifiedMatching MONDO:0013852 hypertrophic cardiomyopathy 21 skos:exactMatch OMIM:614676 cardiomyopathy, familial hypertrophic, 21 semapv:UnspecifiedMatching MONDO:0013852 hypertrophic cardiomyopathy 21 skos:exactMatch UMLS:C3553442 semapv:UnspecifiedMatching MONDO:0013853 pontocerebellar hypoplasia type 1B skos:exactMatch DOID:0060266 pontocerebellar hypoplasia type 1B semapv:UnspecifiedMatching MONDO:0013853 pontocerebellar hypoplasia type 1B skos:exactMatch MEDGEN:766363 semapv:UnspecifiedMatching MONDO:0013853 pontocerebellar hypoplasia type 1B skos:exactMatch OMIM:614678 pontocerebellar hypoplasia, type 1b semapv:UnspecifiedMatching MONDO:0013853 pontocerebellar hypoplasia type 1B skos:exactMatch UMLS:C3553449 semapv:UnspecifiedMatching MONDO:0013854 primary ciliary dyskinesia 17 skos:exactMatch DOID:0110621 primary ciliary dyskinesia 17 semapv:UnspecifiedMatching MONDO:0013854 primary ciliary dyskinesia 17 skos:exactMatch MEDGEN:762261 semapv:UnspecifiedMatching MONDO:0013854 primary ciliary dyskinesia 17 skos:exactMatch OMIM:614679 ciliary dyskinesia, primary, 17 semapv:UnspecifiedMatching MONDO:0013854 primary ciliary dyskinesia 17 skos:exactMatch UMLS:C3542550 semapv:UnspecifiedMatching MONDO:0013855 influenza, severe, susceptibility to skos:exactMatch MEDGEN:766376 semapv:UnspecifiedMatching MONDO:0013855 influenza, severe, susceptibility to skos:exactMatch OMIM:614680 influenza, severe, susceptibility to semapv:UnspecifiedMatching MONDO:0013855 influenza, severe, susceptibility to skos:exactMatch UMLS:C3553462 semapv:UnspecifiedMatching MONDO:0013856 hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, intellectual disability, and recurrent inflammatory episodes skos:exactMatch MEDGEN:766379 semapv:UnspecifiedMatching MONDO:0013856 hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, intellectual disability, and recurrent inflammatory episodes skos:exactMatch OMIM:614684 hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, impaired intellectual development, and recurrent inflammatory episodes semapv:UnspecifiedMatching MONDO:0013856 hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, intellectual disability, and recurrent inflammatory episodes skos:exactMatch UMLS:C3553465 semapv:UnspecifiedMatching MONDO:0013857 alar cleft, isolated skos:exactMatch MEDGEN:766390 semapv:UnspecifiedMatching MONDO:0013857 alar cleft, isolated skos:exactMatch OMIM:614687 alar cleft, isolated semapv:UnspecifiedMatching MONDO:0013857 alar cleft, isolated skos:exactMatch UMLS:C3553476 semapv:UnspecifiedMatching MONDO:0013858 pontine tegmental cap dysplasia skos:exactMatch MEDGEN:762040 semapv:UnspecifiedMatching MONDO:0013858 pontine tegmental cap dysplasia skos:exactMatch OMIM:614688 pontine tegmental cap dysplasia semapv:UnspecifiedMatching MONDO:0013858 pontine tegmental cap dysplasia skos:exactMatch Orphanet:269229 Pontine tegmental cap dysplasia semapv:UnspecifiedMatching MONDO:0013858 pontine tegmental cap dysplasia skos:exactMatch UMLS:C3541340 semapv:UnspecifiedMatching MONDO:0013859 cataract 38 skos:exactMatch DOID:0110245 cataract 38 semapv:UnspecifiedMatching MONDO:0013859 cataract 38 skos:exactMatch MEDGEN:766408 semapv:UnspecifiedMatching MONDO:0013859 cataract 38 skos:exactMatch OMIM:614691 cataract 38 semapv:UnspecifiedMatching MONDO:0013859 cataract 38 skos:exactMatch UMLS:C3553494 semapv:UnspecifiedMatching MONDO:0013860 idiopathic membranous glomerulonephritis skos:exactMatch MEDGEN:39226 semapv:UnspecifiedMatching MONDO:0013860 idiopathic membranous glomerulonephritis skos:exactMatch NCIT:C123060 Membranous Nephropathy - Idiopathic semapv:UnspecifiedMatching MONDO:0013860 idiopathic membranous glomerulonephritis skos:exactMatch OMIM:614692 membranous nephropathy, susceptibility to semapv:UnspecifiedMatching MONDO:0013860 idiopathic membranous glomerulonephritis skos:exactMatch Orphanet:97560 Primary membranous glomerulonephritis semapv:UnspecifiedMatching MONDO:0013860 idiopathic membranous glomerulonephritis skos:exactMatch SCTID:722119002 semapv:UnspecifiedMatching MONDO:0013860 idiopathic membranous glomerulonephritis skos:exactMatch UMLS:C0086445 semapv:UnspecifiedMatching MONDO:0013862 immunodeficiency, common variable, 7 skos:exactMatch DOID:0081150 common variable immunodeficiency 7 semapv:UnspecifiedMatching MONDO:0013862 immunodeficiency, common variable, 7 skos:exactMatch MEDGEN:762276 semapv:UnspecifiedMatching MONDO:0013862 immunodeficiency, common variable, 7 skos:exactMatch OMIM:614699 immunodeficiency, common variable, 7 semapv:UnspecifiedMatching MONDO:0013862 immunodeficiency, common variable, 7 skos:exactMatch Orphanet:696894 Common variable immunodeficiency phenotype due to CD21 deficiency semapv:UnspecifiedMatching MONDO:0013862 immunodeficiency, common variable, 7 skos:exactMatch UMLS:C3542922 semapv:UnspecifiedMatching MONDO:0013863 combined immunodeficiency due to LRBA deficiency skos:exactMatch DOID:0081151 common variable immunodeficiency 8 semapv:UnspecifiedMatching MONDO:0013863 combined immunodeficiency due to LRBA deficiency skos:exactMatch MEDGEN:766426 semapv:UnspecifiedMatching MONDO:0013863 combined immunodeficiency due to LRBA deficiency skos:exactMatch NCIT:C17680 Cyclin-Dependent Kinase 4 semapv:UnspecifiedMatching MONDO:0013863 combined immunodeficiency due to LRBA deficiency skos:exactMatch OMIM:614700 immunodeficiency, common variable, 8, with autoimmunity semapv:UnspecifiedMatching MONDO:0013863 combined immunodeficiency due to LRBA deficiency skos:exactMatch Orphanet:445018 Combined immunodeficiency due to LRBA deficiency semapv:UnspecifiedMatching MONDO:0013863 combined immunodeficiency due to LRBA deficiency skos:exactMatch UMLS:C3553512 semapv:UnspecifiedMatching MONDO:0013864 Cornelia de Lange syndrome 4 skos:exactMatch DOID:0080508 Cornelia de Lange syndrome 4 semapv:UnspecifiedMatching MONDO:0013864 Cornelia de Lange syndrome 4 skos:exactMatch MEDGEN:766431 semapv:UnspecifiedMatching MONDO:0013864 Cornelia de Lange syndrome 4 skos:exactMatch OMIM:614701 cornelia lange lange syndrome 4 with or without midline brain defects semapv:UnspecifiedMatching MONDO:0013864 Cornelia de Lange syndrome 4 skos:exactMatch UMLS:C3553517 semapv:UnspecifiedMatching MONDO:0013865 mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency skos:exactMatch DOID:0111480 combined oxidative phosphorylation deficiency 10 semapv:UnspecifiedMatching MONDO:0013865 mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency skos:exactMatch MEDGEN:1664257 semapv:UnspecifiedMatching MONDO:0013865 mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency skos:exactMatch OMIM:614702 combined oxidative phosphorylation deficiency 10 semapv:UnspecifiedMatching MONDO:0013865 mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency skos:exactMatch Orphanet:314637 Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency semapv:UnspecifiedMatching MONDO:0013865 mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency skos:exactMatch UMLS:C4749921 semapv:UnspecifiedMatching MONDO:0013866 neuronal ceroid lipofuscinosis 11 skos:exactMatch DOID:0110732 neuronal ceroid lipofuscinosis 11 semapv:UnspecifiedMatching MONDO:0013866 neuronal ceroid lipofuscinosis 11 skos:exactMatch MEDGEN:761331 semapv:UnspecifiedMatching MONDO:0013866 neuronal ceroid lipofuscinosis 11 skos:exactMatch OMIM:614706 ceroid lipofuscinosis, neuronal, 11 semapv:UnspecifiedMatching MONDO:0013866 neuronal ceroid lipofuscinosis 11 skos:exactMatch Orphanet:314629 CLN11 disease semapv:UnspecifiedMatching MONDO:0013866 neuronal ceroid lipofuscinosis 11 skos:exactMatch UMLS:C3539123 semapv:UnspecifiedMatching MONDO:0013867 Brown-Vialetto-van Laere syndrome 2 skos:exactMatch DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 semapv:UnspecifiedMatching MONDO:0013867 Brown-Vialetto-van Laere syndrome 2 skos:exactMatch MEDGEN:766452 semapv:UnspecifiedMatching MONDO:0013867 Brown-Vialetto-van Laere syndrome 2 skos:exactMatch NCIT:C183529 Brown-Vialetto-Van Laere Syndrome 2 semapv:UnspecifiedMatching MONDO:0013867 Brown-Vialetto-van Laere syndrome 2 skos:exactMatch OMIM:614707 brown-vialetto-van laere syndrome 2 semapv:UnspecifiedMatching MONDO:0013867 Brown-Vialetto-van Laere syndrome 2 skos:exactMatch Orphanet:572550 RFVT3-related riboflavin transporter deficiency semapv:UnspecifiedMatching MONDO:0013867 Brown-Vialetto-van Laere syndrome 2 skos:exactMatch UMLS:C3553538 semapv:UnspecifiedMatching MONDO:0013868 porokeratosis 7, multiple types skos:exactMatch MEDGEN:766463 semapv:UnspecifiedMatching MONDO:0013868 porokeratosis 7, multiple types skos:exactMatch OMIM:614714 porokeratosis 7, multiple types semapv:UnspecifiedMatching MONDO:0013868 porokeratosis 7, multiple types skos:exactMatch UMLS:C3553549 semapv:UnspecifiedMatching MONDO:0013869 adenine phosphoribosyltransferase deficiency skos:exactMatch DOID:0060350 adenine phosphoribosyltransferase deficiency semapv:UnspecifiedMatching MONDO:0013869 adenine phosphoribosyltransferase deficiency skos:exactMatch MEDGEN:82772 semapv:UnspecifiedMatching MONDO:0013869 adenine phosphoribosyltransferase deficiency skos:exactMatch NCIT:C121564 Adenine Phosphoribosyltransferase Deficiency semapv:UnspecifiedMatching MONDO:0013869 adenine phosphoribosyltransferase deficiency skos:exactMatch OMIM:614723 adenine phosphoribosyltransferase deficiency semapv:UnspecifiedMatching MONDO:0013869 adenine phosphoribosyltransferase deficiency skos:exactMatch Orphanet:976 Adenine phosphoribosyltransferase deficiency semapv:UnspecifiedMatching MONDO:0013869 adenine phosphoribosyltransferase deficiency skos:exactMatch SCTID:124274002 semapv:UnspecifiedMatching MONDO:0013869 adenine phosphoribosyltransferase deficiency skos:exactMatch UMLS:C0268120 semapv:UnspecifiedMatching MONDO:0013869 adenine phosphoribosyltransferase deficiency skos:exactMatch icd11.foundation:753682703 Adenine phosphoribosyltransferase deficiency semapv:UnspecifiedMatching MONDO:0013869 adenine phosphoribosyltransferase deficiency skos:exactMatch mesh:C538228 semapv:UnspecifiedMatching MONDO:0013870 TMEM165-congenital disorder of glycosylation skos:exactMatch DOID:0070263 congenital disorder of glycosylation type IIk semapv:UnspecifiedMatching MONDO:0013870 TMEM165-congenital disorder of glycosylation skos:exactMatch MEDGEN:766485 semapv:UnspecifiedMatching MONDO:0013870 TMEM165-congenital disorder of glycosylation skos:exactMatch OMIM:614727 congenital disorder of glycosylation, type iik semapv:UnspecifiedMatching MONDO:0013870 TMEM165-congenital disorder of glycosylation skos:exactMatch Orphanet:314667 TMEM165-CDG semapv:UnspecifiedMatching MONDO:0013870 TMEM165-congenital disorder of glycosylation skos:exactMatch SCTID:732252005 semapv:UnspecifiedMatching MONDO:0013870 TMEM165-congenital disorder of glycosylation skos:exactMatch UMLS:C3553571 semapv:UnspecifiedMatching MONDO:0013871 Seckel syndrome 6 skos:exactMatch DOID:0070006 Seckel syndrome 6 semapv:UnspecifiedMatching MONDO:0013871 Seckel syndrome 6 skos:exactMatch MEDGEN:766496 semapv:UnspecifiedMatching MONDO:0013871 Seckel syndrome 6 skos:exactMatch OMIM:614728 seckel syndrome 6 semapv:UnspecifiedMatching MONDO:0013871 Seckel syndrome 6 skos:exactMatch UMLS:C3553582 semapv:UnspecifiedMatching MONDO:0013872 prostate cancer, hereditary, 2 skos:exactMatch MEDGEN:761328 semapv:UnspecifiedMatching MONDO:0013872 prostate cancer, hereditary, 2 skos:exactMatch OMIM:614731 prostate cancer, hereditary, 2 semapv:UnspecifiedMatching MONDO:0013872 prostate cancer, hereditary, 2 skos:exactMatch UMLS:C3539120 semapv:UnspecifiedMatching MONDO:0013873 IMAGe syndrome skos:exactMatch DOID:0050885 IMAGe syndrome semapv:UnspecifiedMatching MONDO:0013873 IMAGe syndrome skos:exactMatch MEDGEN:337364 semapv:UnspecifiedMatching MONDO:0013873 IMAGe syndrome skos:exactMatch NCIT:C130988 IMAGe Syndrome semapv:UnspecifiedMatching MONDO:0013873 IMAGe syndrome skos:exactMatch OMIM:614732 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies semapv:UnspecifiedMatching MONDO:0013873 IMAGe syndrome skos:exactMatch Orphanet:85173 IMAGe syndrome semapv:UnspecifiedMatching MONDO:0013873 IMAGe syndrome skos:exactMatch SCTID:702384004 semapv:UnspecifiedMatching MONDO:0013873 IMAGe syndrome skos:exactMatch UMLS:C1846009 semapv:UnspecifiedMatching MONDO:0013873 IMAGe syndrome skos:exactMatch icd11.foundation:1064803315 IMAGe syndrome semapv:UnspecifiedMatching MONDO:0013874 glucocorticoid deficiency 4 skos:exactMatch DOID:0061243 semapv:UnspecifiedMatching MONDO:0013874 glucocorticoid deficiency 4 skos:exactMatch MEDGEN:766501 semapv:UnspecifiedMatching MONDO:0013874 glucocorticoid deficiency 4 skos:exactMatch NCIT:C131452 Familial Glucocorticoid Deficiency Type 4 semapv:UnspecifiedMatching MONDO:0013874 glucocorticoid deficiency 4 skos:exactMatch OMIM:614736 glucocorticoid deficiency 4 with or without mineralocorticoid deficiency semapv:UnspecifiedMatching MONDO:0013874 glucocorticoid deficiency 4 skos:exactMatch UMLS:C3553587 semapv:UnspecifiedMatching MONDO:0013875 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome skos:exactMatch DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome semapv:UnspecifiedMatching MONDO:0013875 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome skos:exactMatch MEDGEN:873604 semapv:UnspecifiedMatching MONDO:0013875 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome skos:exactMatch OMIM:614739 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome semapv:UnspecifiedMatching MONDO:0013875 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome skos:exactMatch Orphanet:352328 MEGDEL syndrome semapv:UnspecifiedMatching MONDO:0013875 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome skos:exactMatch SCTID:711409002 semapv:UnspecifiedMatching MONDO:0013875 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome skos:exactMatch UMLS:C4040739 semapv:UnspecifiedMatching MONDO:0013876 basal cell carcinoma, susceptibility to, 7 skos:exactMatch MEDGEN:766520 semapv:UnspecifiedMatching MONDO:0013876 basal cell carcinoma, susceptibility to, 7 skos:exactMatch OMIM:614740 basal cell carcinoma, susceptibility to, 7 semapv:UnspecifiedMatching MONDO:0013876 basal cell carcinoma, susceptibility to, 7 skos:exactMatch UMLS:C3553606 semapv:UnspecifiedMatching MONDO:0013877 mitochondrial pyruvate carrier deficiency skos:exactMatch DOID:0080363 mitochondrial pyruvate carrier deficiency semapv:UnspecifiedMatching MONDO:0013877 mitochondrial pyruvate carrier deficiency skos:exactMatch MEDGEN:766521 semapv:UnspecifiedMatching MONDO:0013877 mitochondrial pyruvate carrier deficiency skos:exactMatch OMIM:614741 mitochondrial pyruvate carrier deficiency semapv:UnspecifiedMatching MONDO:0013877 mitochondrial pyruvate carrier deficiency skos:exactMatch Orphanet:447784 Mitochondrial pyruvate carrier deficiency semapv:UnspecifiedMatching MONDO:0013877 mitochondrial pyruvate carrier deficiency skos:exactMatch UMLS:C3553607 semapv:UnspecifiedMatching MONDO:0013878 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 skos:exactMatch EFO:1001501 semapv:UnspecifiedMatching MONDO:0013878 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 skos:exactMatch MEDGEN:766531 semapv:UnspecifiedMatching MONDO:0013878 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 skos:exactMatch OMIM:614742 pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 1 semapv:UnspecifiedMatching MONDO:0013878 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 skos:exactMatch UMLS:C3553617 semapv:UnspecifiedMatching MONDO:0013879 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 skos:exactMatch MEDGEN:766536 semapv:UnspecifiedMatching MONDO:0013879 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 skos:exactMatch OMIM:614743 pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 2 semapv:UnspecifiedMatching MONDO:0013879 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 skos:exactMatch UMLS:C3553622 semapv:UnspecifiedMatching MONDO:0013880 facial paresis, hereditary congenital, 3 skos:exactMatch MEDGEN:766539 semapv:UnspecifiedMatching MONDO:0013880 facial paresis, hereditary congenital, 3 skos:exactMatch OMIM:614744 facial paresis, hereditary congenital, 3 semapv:UnspecifiedMatching MONDO:0013880 facial paresis, hereditary congenital, 3 skos:exactMatch UMLS:C3553625 semapv:UnspecifiedMatching MONDO:0013881 epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome skos:exactMatch MEDGEN:1388385 semapv:UnspecifiedMatching MONDO:0013881 epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome skos:exactMatch OMIM:614748 epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome semapv:UnspecifiedMatching MONDO:0013881 epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome skos:exactMatch Orphanet:306504 Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome semapv:UnspecifiedMatching MONDO:0013881 epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome skos:exactMatch UMLS:C4518785 semapv:UnspecifiedMatching MONDO:0013882 hyperphosphatasia with intellectual disability syndrome 2 skos:exactMatch DOID:0070434 hyperphosphatasia with impaired intellectual development syndrome 2 semapv:UnspecifiedMatching MONDO:0013882 hyperphosphatasia with intellectual disability syndrome 2 skos:exactMatch MEDGEN:766551 semapv:UnspecifiedMatching MONDO:0013882 hyperphosphatasia with intellectual disability syndrome 2 skos:exactMatch OMIM:614749 hyperphosphatasia with impaired intellectual development syndrome 2 semapv:UnspecifiedMatching MONDO:0013882 hyperphosphatasia with intellectual disability syndrome 2 skos:exactMatch UMLS:C3553637 semapv:UnspecifiedMatching MONDO:0013883 congenital myasthenic syndrome 13 skos:exactMatch DOID:0110676 congenital myasthenic syndrome 13 semapv:UnspecifiedMatching MONDO:0013883 congenital myasthenic syndrome 13 skos:exactMatch MEDGEN:766559 semapv:UnspecifiedMatching MONDO:0013883 congenital myasthenic syndrome 13 skos:exactMatch OMIM:614750 myasthenic syndrome, congenital, 13 semapv:UnspecifiedMatching MONDO:0013883 congenital myasthenic syndrome 13 skos:exactMatch UMLS:C3553645 semapv:UnspecifiedMatching MONDO:0013884 neuronopathy, distal hereditary motor, type 5B skos:exactMatch DOID:0111205 autosomal dominant distal hereditary motor neuronopathy 12 semapv:UnspecifiedMatching MONDO:0013884 neuronopathy, distal hereditary motor, type 5B skos:exactMatch MEDGEN:766570 semapv:UnspecifiedMatching MONDO:0013884 neuronopathy, distal hereditary motor, type 5B skos:exactMatch OMIM:614751 neuronopathy, distal hereditary motor, autosomal dominant 12 semapv:UnspecifiedMatching MONDO:0013884 neuronopathy, distal hereditary motor, type 5B skos:exactMatch UMLS:C3553656 semapv:UnspecifiedMatching MONDO:0013885 Malan overgrowth syndrome skos:exactMatch DOID:0112102 Sotos syndrome 2 semapv:UnspecifiedMatching MONDO:0013885 Malan overgrowth syndrome skos:exactMatch MEDGEN:766574 semapv:UnspecifiedMatching MONDO:0013885 Malan overgrowth syndrome skos:exactMatch OMIM:614753 malan syndrome semapv:UnspecifiedMatching MONDO:0013885 Malan overgrowth syndrome skos:exactMatch Orphanet:420179 Malan overgrowth syndrome semapv:UnspecifiedMatching MONDO:0013885 Malan overgrowth syndrome skos:exactMatch SCTID:763795006 semapv:UnspecifiedMatching MONDO:0013885 Malan overgrowth syndrome skos:exactMatch UMLS:C3553660 semapv:UnspecifiedMatching MONDO:0013886 cerebellar dysfunction with variable cognitive and behavioral abnormalities skos:exactMatch DOID:0050998 nonprogressive cerebellar ataxia with mental retardation semapv:UnspecifiedMatching MONDO:0013886 cerebellar dysfunction with variable cognitive and behavioral abnormalities skos:exactMatch MEDGEN:766575 semapv:UnspecifiedMatching MONDO:0013886 cerebellar dysfunction with variable cognitive and behavioral abnormalities skos:exactMatch OMIM:614756 cerebellar dysfunction with variable cognitive and behavioral abnormalities semapv:UnspecifiedMatching MONDO:0013886 cerebellar dysfunction with variable cognitive and behavioral abnormalities skos:exactMatch Orphanet:314647 Non-progressive cerebellar ataxia with intellectual disability semapv:UnspecifiedMatching MONDO:0013886 cerebellar dysfunction with variable cognitive and behavioral abnormalities skos:exactMatch SCTID:723441001 semapv:UnspecifiedMatching MONDO:0013886 cerebellar dysfunction with variable cognitive and behavioral abnormalities skos:exactMatch UMLS:C3553661 semapv:UnspecifiedMatching MONDO:0013887 heterotaxy, visceral, 6, autosomal skos:exactMatch DOID:0051020 visceral heterotaxy 6 semapv:UnspecifiedMatching MONDO:0013887 heterotaxy, visceral, 6, autosomal skos:exactMatch MEDGEN:766590 semapv:UnspecifiedMatching MONDO:0013887 heterotaxy, visceral, 6, autosomal skos:exactMatch OMIM:614779 heterotaxy, visceral, 6, autosomal semapv:UnspecifiedMatching MONDO:0013887 heterotaxy, visceral, 6, autosomal skos:exactMatch UMLS:C3553676 semapv:UnspecifiedMatching MONDO:0013888 tremor, hereditary essential, 4 skos:exactMatch DOID:0111431 essential tremor 4 semapv:UnspecifiedMatching MONDO:0013888 tremor, hereditary essential, 4 skos:exactMatch MEDGEN:761337 semapv:UnspecifiedMatching MONDO:0013888 tremor, hereditary essential, 4 skos:exactMatch OMIM:614782 tremor, hereditary essential, 4 semapv:UnspecifiedMatching MONDO:0013888 tremor, hereditary essential, 4 skos:exactMatch UMLS:C3539195 semapv:UnspecifiedMatching MONDO:0013889 short stature-optic atrophy-Pelger-Huët anomaly syndrome skos:exactMatch MEDGEN:762020 semapv:UnspecifiedMatching MONDO:0013889 short stature-optic atrophy-Pelger-Huët anomaly syndrome skos:exactMatch OMIM:614800 short stature, optic nerve atrophy, and pelger-huet anomaly semapv:UnspecifiedMatching MONDO:0013889 short stature-optic atrophy-Pelger-Huët anomaly syndrome skos:exactMatch Orphanet:391677 Short stature-optic atrophy-Pelger-Huët anomaly syndrome semapv:UnspecifiedMatching MONDO:0013889 short stature-optic atrophy-Pelger-Huët anomaly syndrome skos:exactMatch UMLS:C3541319 semapv:UnspecifiedMatching MONDO:0013890 congenital myopathy with internal nuclei and atypical cores skos:exactMatch DOID:0111224 centronuclear myopathy 4 semapv:UnspecifiedMatching MONDO:0013890 congenital myopathy with internal nuclei and atypical cores skos:exactMatch MEDGEN:1642424 semapv:UnspecifiedMatching MONDO:0013890 congenital myopathy with internal nuclei and atypical cores skos:exactMatch OMIM:614807 myopathy, centronuclear, 4 semapv:UnspecifiedMatching MONDO:0013890 congenital myopathy with internal nuclei and atypical cores skos:exactMatch Orphanet:319160 Congenital myopathy with internal nuclei and atypical cores semapv:UnspecifiedMatching MONDO:0013890 congenital myopathy with internal nuclei and atypical cores skos:exactMatch SCTID:764945007 semapv:UnspecifiedMatching MONDO:0013890 congenital myopathy with internal nuclei and atypical cores skos:exactMatch UMLS:C4707232 semapv:UnspecifiedMatching MONDO:0013891 amyotrophic lateral sclerosis type 18 skos:exactMatch DOID:0060209 amyotrophic lateral sclerosis type 18 semapv:UnspecifiedMatching MONDO:0013891 amyotrophic lateral sclerosis type 18 skos:exactMatch MEDGEN:766633 semapv:UnspecifiedMatching MONDO:0013891 amyotrophic lateral sclerosis type 18 skos:exactMatch OMIM:614808 amyotrophic lateral sclerosis 18 semapv:UnspecifiedMatching MONDO:0013891 amyotrophic lateral sclerosis type 18 skos:exactMatch UMLS:C3553719 semapv:UnspecifiedMatching MONDO:0013892 C3 glomerulonephritis skos:exactMatch MEDGEN:884569 semapv:UnspecifiedMatching MONDO:0013892 C3 glomerulonephritis skos:exactMatch NCIT:C123043 C3 Glomerulonephritis semapv:UnspecifiedMatching MONDO:0013892 C3 glomerulonephritis skos:exactMatch OMIM:614809 c3 glomerulopathy 3 semapv:UnspecifiedMatching MONDO:0013892 C3 glomerulonephritis skos:exactMatch Orphanet:329931 C3 glomerulonephritis semapv:UnspecifiedMatching MONDO:0013892 C3 glomerulonephritis skos:exactMatch UMLS:C4055342 semapv:UnspecifiedMatching MONDO:0013893 multiple sclerosis, susceptibility to, 5 skos:exactMatch MEDGEN:766642 semapv:UnspecifiedMatching MONDO:0013893 multiple sclerosis, susceptibility to, 5 skos:exactMatch OMIM:614810 multiple sclerosis, susceptibility to, 5 semapv:UnspecifiedMatching MONDO:0013893 multiple sclerosis, susceptibility to, 5 skos:exactMatch UMLS:C3553728 semapv:UnspecifiedMatching MONDO:0013894 short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome skos:exactMatch MEDGEN:762199 semapv:UnspecifiedMatching MONDO:0013894 short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome skos:exactMatch OMIM:614813 short stature, onychodysplasia, facial dysmorphism, and hypotrichosis semapv:UnspecifiedMatching MONDO:0013894 short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome skos:exactMatch Orphanet:314394 Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome semapv:UnspecifiedMatching MONDO:0013894 short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome skos:exactMatch UMLS:C3542022 semapv:UnspecifiedMatching MONDO:0013895 Adams-Oliver syndrome 3 skos:exactMatch DOID:0061179 Adams-Oliver syndrome 3 semapv:UnspecifiedMatching MONDO:0013895 Adams-Oliver syndrome 3 skos:exactMatch MEDGEN:766662 semapv:UnspecifiedMatching MONDO:0013895 Adams-Oliver syndrome 3 skos:exactMatch OMIM:614814 adams-oliver syndrome 3 semapv:UnspecifiedMatching MONDO:0013895 Adams-Oliver syndrome 3 skos:exactMatch UMLS:C3553748 semapv:UnspecifiedMatching MONDO:0013896 Joubert syndrome 18 skos:exactMatch DOID:0110987 Joubert syndrome 18 semapv:UnspecifiedMatching MONDO:0013896 Joubert syndrome 18 skos:exactMatch MEDGEN:766672 semapv:UnspecifiedMatching MONDO:0013896 Joubert syndrome 18 skos:exactMatch OMIM:614815 joubert syndrome 18 semapv:UnspecifiedMatching MONDO:0013896 Joubert syndrome 18 skos:exactMatch UMLS:C3553758 semapv:UnspecifiedMatching MONDO:0013897 Loeys-Dietz syndrome 4 skos:exactMatch DOID:0070233 Loeys-Dietz syndrome 4 semapv:UnspecifiedMatching MONDO:0013897 Loeys-Dietz syndrome 4 skos:exactMatch MEDGEN:766676 semapv:UnspecifiedMatching MONDO:0013897 Loeys-Dietz syndrome 4 skos:exactMatch OMIM:614816 loeys-dietz syndrome 4 semapv:UnspecifiedMatching MONDO:0013897 Loeys-Dietz syndrome 4 skos:exactMatch UMLS:C3553762 semapv:UnspecifiedMatching MONDO:0013898 karyomegalic interstitial nephritis skos:exactMatch DOID:0060911 karyomegalic interstitial nephritis semapv:UnspecifiedMatching MONDO:0013898 karyomegalic interstitial nephritis skos:exactMatch MEDGEN:766688 semapv:UnspecifiedMatching MONDO:0013898 karyomegalic interstitial nephritis skos:exactMatch NCIT:C173626 Karyomegalic Interstitial Nephritis semapv:UnspecifiedMatching MONDO:0013898 karyomegalic interstitial nephritis skos:exactMatch OMIM:614817 interstitial nephritis, karyomegalic semapv:UnspecifiedMatching MONDO:0013898 karyomegalic interstitial nephritis skos:exactMatch Orphanet:401996 Karyomegalic interstitial nephritis semapv:UnspecifiedMatching MONDO:0013898 karyomegalic interstitial nephritis skos:exactMatch UMLS:C3553774 semapv:UnspecifiedMatching MONDO:0013899 Weill-Marchesani syndrome 3 skos:exactMatch MEDGEN:766699 semapv:UnspecifiedMatching MONDO:0013899 Weill-Marchesani syndrome 3 skos:exactMatch OMIM:614819 weill-marchesani syndrome 3 semapv:UnspecifiedMatching MONDO:0013899 Weill-Marchesani syndrome 3 skos:exactMatch UMLS:C3553785 semapv:UnspecifiedMatching MONDO:0013900 alternating hemiplegia of childhood 2 skos:exactMatch MEDGEN:766702 semapv:UnspecifiedMatching MONDO:0013900 alternating hemiplegia of childhood 2 skos:exactMatch OMIM:614820 alternating hemiplegia of childhood 2 semapv:UnspecifiedMatching MONDO:0013900 alternating hemiplegia of childhood 2 skos:exactMatch UMLS:C3553788 semapv:UnspecifiedMatching MONDO:0013901 spermatogenic failure 10 skos:exactMatch DOID:0070178 spermatogenic failure 10 semapv:UnspecifiedMatching MONDO:0013901 spermatogenic failure 10 skos:exactMatch MEDGEN:766707 semapv:UnspecifiedMatching MONDO:0013901 spermatogenic failure 10 skos:exactMatch OMIM:614822 spermatogenic failure 10 semapv:UnspecifiedMatching MONDO:0013901 spermatogenic failure 10 skos:exactMatch UMLS:C3553793 semapv:UnspecifiedMatching MONDO:0013902 aortic valve disease 2 skos:exactMatch DOID:0080334 aortic valve disease 2 semapv:UnspecifiedMatching MONDO:0013902 aortic valve disease 2 skos:exactMatch MEDGEN:762200 semapv:UnspecifiedMatching MONDO:0013902 aortic valve disease 2 skos:exactMatch OMIM:614823 aortic valve disease 2 semapv:UnspecifiedMatching MONDO:0013902 aortic valve disease 2 skos:exactMatch UMLS:C3542024 semapv:UnspecifiedMatching MONDO:0013903 nystagmus 7, congenital, autosomal dominant skos:exactMatch DOID:0111791 congenital nystagmus 7 semapv:UnspecifiedMatching MONDO:0013903 nystagmus 7, congenital, autosomal dominant skos:exactMatch MEDGEN:766715 semapv:UnspecifiedMatching MONDO:0013903 nystagmus 7, congenital, autosomal dominant skos:exactMatch OMIM:614826 nystagmus 7, congenital, autosomal dominant semapv:UnspecifiedMatching MONDO:0013903 nystagmus 7, congenital, autosomal dominant skos:exactMatch UMLS:C3553801 semapv:UnspecifiedMatching MONDO:0013904 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 skos:exactMatch DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 semapv:UnspecifiedMatching MONDO:0013904 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 skos:exactMatch MEDGEN:766727 semapv:UnspecifiedMatching MONDO:0013904 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 skos:exactMatch OMIM:614830 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 semapv:UnspecifiedMatching MONDO:0013904 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 skos:exactMatch UMLS:C3553813 semapv:UnspecifiedMatching MONDO:0013905 autosomal recessive spinocerebellar ataxia 13 skos:exactMatch DOID:0080062 autosomal recessive spinocerebellar ataxia 13 semapv:UnspecifiedMatching MONDO:0013905 autosomal recessive spinocerebellar ataxia 13 skos:exactMatch MEDGEN:766730 semapv:UnspecifiedMatching MONDO:0013905 autosomal recessive spinocerebellar ataxia 13 skos:exactMatch OMIM:614831 spinocerebellar ataxia, autosomal recessive 13 semapv:UnspecifiedMatching MONDO:0013905 autosomal recessive spinocerebellar ataxia 13 skos:exactMatch Orphanet:324262 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency semapv:UnspecifiedMatching MONDO:0013905 autosomal recessive spinocerebellar ataxia 13 skos:exactMatch UMLS:C3553816 semapv:UnspecifiedMatching MONDO:0013906 amelogenesis imperfecta hypomaturation type 2A4 skos:exactMatch DOID:0110062 amelogenesis imperfecta hypomaturation type 2A4 semapv:UnspecifiedMatching MONDO:0013906 amelogenesis imperfecta hypomaturation type 2A4 skos:exactMatch MEDGEN:766744 semapv:UnspecifiedMatching MONDO:0013906 amelogenesis imperfecta hypomaturation type 2A4 skos:exactMatch OMIM:614832 amelogenesis imperfecta, hypomaturation type, iia4 semapv:UnspecifiedMatching MONDO:0013906 amelogenesis imperfecta hypomaturation type 2A4 skos:exactMatch UMLS:C3553830 semapv:UnspecifiedMatching MONDO:0013907 bilateral generalized polymicrogyria skos:exactMatch DOID:0080920 bilateral generalized polymicrogyria semapv:UnspecifiedMatching MONDO:0013907 bilateral generalized polymicrogyria skos:exactMatch MEDGEN:1684616 semapv:UnspecifiedMatching MONDO:0013907 bilateral generalized polymicrogyria skos:exactMatch Orphanet:208447 Bilateral generalized polymicrogyria semapv:UnspecifiedMatching MONDO:0013907 bilateral generalized polymicrogyria skos:exactMatch UMLS:C5139324 semapv:UnspecifiedMatching MONDO:0013908 thyrotoxic periodic paralysis, susceptibility to, 3 skos:exactMatch MEDGEN:766753 semapv:UnspecifiedMatching MONDO:0013908 thyrotoxic periodic paralysis, susceptibility to, 3 skos:exactMatch OMIM:614834 thyrotoxic periodic paralysis, susceptibility to, 3 semapv:UnspecifiedMatching MONDO:0013908 thyrotoxic periodic paralysis, susceptibility to, 3 skos:exactMatch UMLS:C3553839 semapv:UnspecifiedMatching MONDO:0013909 human herpesvirus 8, susceptibility to skos:exactMatch MEDGEN:766754 semapv:UnspecifiedMatching MONDO:0013909 human herpesvirus 8, susceptibility to skos:exactMatch OMIM:614836 human herpesvirus 8, susceptibility to semapv:UnspecifiedMatching MONDO:0013909 human herpesvirus 8, susceptibility to skos:exactMatch UMLS:C3553840 semapv:UnspecifiedMatching MONDO:0013910 hypogonadotropic hypogonadism 8 with or without anosmia skos:exactMatch DOID:0090074 hypogonadotropic hypogonadism 8 with or without anosmia semapv:UnspecifiedMatching MONDO:0013910 hypogonadotropic hypogonadism 8 with or without anosmia skos:exactMatch MEDGEN:766755 semapv:UnspecifiedMatching MONDO:0013910 hypogonadotropic hypogonadism 8 with or without anosmia skos:exactMatch OMIM:614837 hypogonadotropic hypogonadism 8 with or without anosmia semapv:UnspecifiedMatching MONDO:0013910 hypogonadotropic hypogonadism 8 with or without anosmia skos:exactMatch UMLS:C3553841 semapv:UnspecifiedMatching MONDO:0013911 hypogonadotropic hypogonadism 9 with or without anosmia skos:exactMatch DOID:0090085 hypogonadotropic hypogonadism 9 with or without anosmia semapv:UnspecifiedMatching MONDO:0013911 hypogonadotropic hypogonadism 9 with or without anosmia skos:exactMatch MEDGEN:766756 semapv:UnspecifiedMatching MONDO:0013911 hypogonadotropic hypogonadism 9 with or without anosmia skos:exactMatch OMIM:614838 hypogonadotropic hypogonadism 9 with or without anosmia semapv:UnspecifiedMatching MONDO:0013911 hypogonadotropic hypogonadism 9 with or without anosmia skos:exactMatch UMLS:C3553842 semapv:UnspecifiedMatching MONDO:0013912 hypogonadotropic hypogonadism 10 with or without anosmia skos:exactMatch DOID:0090089 hypogonadotropic hypogonadism 10 with or without anosmia semapv:UnspecifiedMatching MONDO:0013912 hypogonadotropic hypogonadism 10 with or without anosmia skos:exactMatch MEDGEN:766757 semapv:UnspecifiedMatching MONDO:0013912 hypogonadotropic hypogonadism 10 with or without anosmia skos:exactMatch OMIM:614839 hypogonadotropic hypogonadism 10 with or without anosmia semapv:UnspecifiedMatching MONDO:0013912 hypogonadotropic hypogonadism 10 with or without anosmia skos:exactMatch UMLS:C3553843 semapv:UnspecifiedMatching MONDO:0013913 hypogonadotropic hypogonadism 11 with or without anosmia skos:exactMatch DOID:0090071 hypogonadotropic hypogonadism 11 with or without anosmia semapv:UnspecifiedMatching MONDO:0013913 hypogonadotropic hypogonadism 11 with or without anosmia skos:exactMatch MEDGEN:766758 semapv:UnspecifiedMatching MONDO:0013913 hypogonadotropic hypogonadism 11 with or without anosmia skos:exactMatch OMIM:614840 hypogonadotropic hypogonadism 11 with or without anosmia semapv:UnspecifiedMatching MONDO:0013913 hypogonadotropic hypogonadism 11 with or without anosmia skos:exactMatch UMLS:C3553844 semapv:UnspecifiedMatching MONDO:0013914 hypogonadotropic hypogonadism 12 with or without anosmia skos:exactMatch DOID:0090072 hypogonadotropic hypogonadism 12 with or without anosmia semapv:UnspecifiedMatching MONDO:0013914 hypogonadotropic hypogonadism 12 with or without anosmia skos:exactMatch MEDGEN:347328 semapv:UnspecifiedMatching MONDO:0013914 hypogonadotropic hypogonadism 12 with or without anosmia skos:exactMatch OMIM:614841 hypogonadotropic hypogonadism 12 with or without anosmia semapv:UnspecifiedMatching MONDO:0013914 hypogonadotropic hypogonadism 12 with or without anosmia skos:exactMatch UMLS:C1856897 semapv:UnspecifiedMatching MONDO:0013914 hypogonadotropic hypogonadism 12 with or without anosmia skos:exactMatch mesh:C535764 semapv:UnspecifiedMatching MONDO:0013915 hypogonadotropic hypogonadism 13 with or without anosmia skos:exactMatch DOID:0090073 hypogonadotropic hypogonadism 13 with or without anosmia semapv:UnspecifiedMatching MONDO:0013915 hypogonadotropic hypogonadism 13 with or without anosmia skos:exactMatch MEDGEN:762090 semapv:UnspecifiedMatching MONDO:0013915 hypogonadotropic hypogonadism 13 with or without anosmia skos:exactMatch OMIM:614842 hypogonadotropic hypogonadism 13 with or without anosmia semapv:UnspecifiedMatching MONDO:0013915 hypogonadotropic hypogonadism 13 with or without anosmia skos:exactMatch UMLS:C3541462 semapv:UnspecifiedMatching MONDO:0013916 nephronophthisis 14 skos:exactMatch DOID:0111122 nephronophthisis 14 semapv:UnspecifiedMatching MONDO:0013916 nephronophthisis 14 skos:exactMatch MEDGEN:761313 semapv:UnspecifiedMatching MONDO:0013916 nephronophthisis 14 skos:exactMatch OMIM:614844 nephronophthisis 14 semapv:UnspecifiedMatching MONDO:0013916 nephronophthisis 14 skos:exactMatch UMLS:C3539071 semapv:UnspecifiedMatching MONDO:0013917 nephronophthisis 15 skos:exactMatch DOID:0111123 nephronophthisis 15 semapv:UnspecifiedMatching MONDO:0013917 nephronophthisis 15 skos:exactMatch MEDGEN:762112 semapv:UnspecifiedMatching MONDO:0013917 nephronophthisis 15 skos:exactMatch OMIM:614845 nephronophthisis 15 semapv:UnspecifiedMatching MONDO:0013917 nephronophthisis 15 skos:exactMatch UMLS:C3541853 semapv:UnspecifiedMatching MONDO:0013918 distal tetrasomy 15q skos:exactMatch MEDGEN:766772 semapv:UnspecifiedMatching MONDO:0013918 distal tetrasomy 15q skos:exactMatch OMIM:614846 tetrasomy 15q26 semapv:UnspecifiedMatching MONDO:0013918 distal tetrasomy 15q skos:exactMatch Orphanet:314588 Distal triplication 15q syndrome semapv:UnspecifiedMatching MONDO:0013918 distal tetrasomy 15q skos:exactMatch UMLS:C3553858 semapv:UnspecifiedMatching MONDO:0013919 epilepsy, idiopathic generalized, susceptibility to, 12 skos:exactMatch MEDGEN:766773 semapv:UnspecifiedMatching MONDO:0013919 epilepsy, idiopathic generalized, susceptibility to, 12 skos:exactMatch OMIM:614847 epilepsy, idiopathic generalized, susceptibility to, 12 semapv:UnspecifiedMatching MONDO:0013919 epilepsy, idiopathic generalized, susceptibility to, 12 skos:exactMatch UMLS:C3553859 semapv:UnspecifiedMatching MONDO:0013920 herpes simplex encephalitis, susceptibility to, 3 skos:exactMatch DOID:0061101 immunodeficiency 132A semapv:UnspecifiedMatching MONDO:0013920 herpes simplex encephalitis, susceptibility to, 3 skos:exactMatch MEDGEN:766782 semapv:UnspecifiedMatching MONDO:0013920 herpes simplex encephalitis, susceptibility to, 3 skos:exactMatch OMIM:614849 immunodeficiency 132a semapv:UnspecifiedMatching MONDO:0013920 herpes simplex encephalitis, susceptibility to, 3 skos:exactMatch UMLS:C3553868 semapv:UnspecifiedMatching MONDO:0013921 herpes simplex encephalitis, susceptibility to, 4 skos:exactMatch MEDGEN:766783 semapv:UnspecifiedMatching MONDO:0013921 herpes simplex encephalitis, susceptibility to, 4 skos:exactMatch OMIM:614850 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6 semapv:UnspecifiedMatching MONDO:0013921 herpes simplex encephalitis, susceptibility to, 4 skos:exactMatch UMLS:C3553869 semapv:UnspecifiedMatching MONDO:0013922 Seckel syndrome 7 skos:exactMatch DOID:0070011 Seckel syndrome 7 semapv:UnspecifiedMatching MONDO:0013922 Seckel syndrome 7 skos:exactMatch MEDGEN:766784 semapv:UnspecifiedMatching MONDO:0013922 Seckel syndrome 7 skos:exactMatch OMIM:614851 seckel syndrome 7 semapv:UnspecifiedMatching MONDO:0013922 Seckel syndrome 7 skos:exactMatch Orphanet:319675 Microcephalic primordial dwarfism, Dauber type semapv:UnspecifiedMatching MONDO:0013922 Seckel syndrome 7 skos:exactMatch UMLS:C3553870 semapv:UnspecifiedMatching MONDO:0013923 microcephaly 9, primary, autosomal recessive skos:exactMatch DOID:0070292 primary autosomal recessive microcephaly 9 semapv:UnspecifiedMatching MONDO:0013923 microcephaly 9, primary, autosomal recessive skos:exactMatch MEDGEN:766800 semapv:UnspecifiedMatching MONDO:0013923 microcephaly 9, primary, autosomal recessive skos:exactMatch OMIM:614852 microcephaly 9, primary, autosomal recessive semapv:UnspecifiedMatching MONDO:0013923 microcephaly 9, primary, autosomal recessive skos:exactMatch UMLS:C3553886 semapv:UnspecifiedMatching MONDO:0013924 osteogenesis imperfecta type 13 skos:exactMatch DOID:0110342 osteogenesis imperfecta type 13 semapv:UnspecifiedMatching MONDO:0013924 osteogenesis imperfecta type 13 skos:exactMatch MEDGEN:766801 semapv:UnspecifiedMatching MONDO:0013924 osteogenesis imperfecta type 13 skos:exactMatch OMIM:614856 osteogenesis imperfecta, type 13 semapv:UnspecifiedMatching MONDO:0013924 osteogenesis imperfecta type 13 skos:exactMatch UMLS:C3553887 semapv:UnspecifiedMatching MONDO:0013925 methylmalonic acidemia with homocystinuria, type cblJ skos:exactMatch MEDGEN:766829 semapv:UnspecifiedMatching MONDO:0013925 methylmalonic acidemia with homocystinuria, type cblJ skos:exactMatch OMIM:614857 methylmalonic aciduria and homocystinuria, cblj type semapv:UnspecifiedMatching MONDO:0013925 methylmalonic acidemia with homocystinuria, type cblJ skos:exactMatch Orphanet:369955 Methylmalonic acidemia with homocystinuria, type cblJ semapv:UnspecifiedMatching MONDO:0013925 methylmalonic acidemia with homocystinuria, type cblJ skos:exactMatch UMLS:C3553915 semapv:UnspecifiedMatching MONDO:0013926 hypogonadotropic hypogonadism 14 with or without anosmia skos:exactMatch DOID:0090087 hypogonadotropic hypogonadism 14 with or without anosmia semapv:UnspecifiedMatching MONDO:0013926 hypogonadotropic hypogonadism 14 with or without anosmia skos:exactMatch MEDGEN:761703 semapv:UnspecifiedMatching MONDO:0013926 hypogonadotropic hypogonadism 14 with or without anosmia skos:exactMatch OMIM:614858 hypogonadotropic hypogonadism 14 with or without anosmia semapv:UnspecifiedMatching MONDO:0013926 hypogonadotropic hypogonadism 14 with or without anosmia skos:exactMatch UMLS:C3540450 semapv:UnspecifiedMatching MONDO:0013927 peroxisome biogenesis disorder 3A (Zellweger) skos:exactMatch DOID:0080478 peroxisome biogenesis disorder 3A semapv:UnspecifiedMatching MONDO:0013927 peroxisome biogenesis disorder 3A (Zellweger) skos:exactMatch MEDGEN:766843 semapv:UnspecifiedMatching MONDO:0013927 peroxisome biogenesis disorder 3A (Zellweger) skos:exactMatch NCIT:C155752 Peroxisome Biogenesis Disorder 3A semapv:UnspecifiedMatching MONDO:0013927 peroxisome biogenesis disorder 3A (Zellweger) skos:exactMatch OMIM:614859 peroxisome biogenesis disorder 3a (zellweger) semapv:UnspecifiedMatching MONDO:0013927 peroxisome biogenesis disorder 3A (Zellweger) skos:exactMatch UMLS:C3553929 semapv:UnspecifiedMatching MONDO:0013927 peroxisome biogenesis disorder 3A (Zellweger) skos:exactMatch mesh:C566633 semapv:UnspecifiedMatching MONDO:0013928 dystonia 23 skos:exactMatch DOID:0090051 dystonia 23 semapv:UnspecifiedMatching MONDO:0013928 dystonia 23 skos:exactMatch MEDGEN:761274 semapv:UnspecifiedMatching MONDO:0013928 dystonia 23 skos:exactMatch OMIM:614860 dystonia 23 semapv:UnspecifiedMatching MONDO:0013928 dystonia 23 skos:exactMatch Orphanet:420492 Adult-onset cervical dystonia, DYT23 type semapv:UnspecifiedMatching MONDO:0013928 dystonia 23 skos:exactMatch UMLS:C3538999 semapv:UnspecifiedMatching MONDO:0013929 autosomal recessive nonsyndromic hearing loss 98 skos:exactMatch DOID:0110540 autosomal recessive nonsyndromic deafness 98 semapv:UnspecifiedMatching MONDO:0013929 autosomal recessive nonsyndromic hearing loss 98 skos:exactMatch MEDGEN:766846 semapv:UnspecifiedMatching MONDO:0013929 autosomal recessive nonsyndromic hearing loss 98 skos:exactMatch OMIM:614861 deafness, autosomal recessive 98 semapv:UnspecifiedMatching MONDO:0013929 autosomal recessive nonsyndromic hearing loss 98 skos:exactMatch UMLS:C3553932 semapv:UnspecifiedMatching MONDO:0013930 peroxisome biogenesis disorder 4A (Zellweger) skos:exactMatch DOID:0080479 peroxisome biogenesis disorder 4A semapv:UnspecifiedMatching MONDO:0013930 peroxisome biogenesis disorder 4A (Zellweger) skos:exactMatch MEDGEN:766850 semapv:UnspecifiedMatching MONDO:0013930 peroxisome biogenesis disorder 4A (Zellweger) skos:exactMatch NCIT:C155754 Peroxisome Biogenesis Disorder 4A semapv:UnspecifiedMatching MONDO:0013930 peroxisome biogenesis disorder 4A (Zellweger) skos:exactMatch OMIM:614862 peroxisome biogenesis disorder 4a (zellweger) semapv:UnspecifiedMatching MONDO:0013930 peroxisome biogenesis disorder 4A (Zellweger) skos:exactMatch UMLS:C3553936 semapv:UnspecifiedMatching MONDO:0013930 peroxisome biogenesis disorder 4A (Zellweger) skos:exactMatch mesh:C563301 semapv:UnspecifiedMatching MONDO:0013931 peroxisome biogenesis disorder 4B skos:exactMatch DOID:0081433 Peroxisome biogenesis disorder 4B semapv:UnspecifiedMatching MONDO:0013931 peroxisome biogenesis disorder 4B skos:exactMatch DOID:0111612 obsolete autosomal recessive spinocerebellar ataxia 3 semapv:UnspecifiedMatching MONDO:0013931 peroxisome biogenesis disorder 4B skos:exactMatch MEDGEN:766851 semapv:UnspecifiedMatching MONDO:0013931 peroxisome biogenesis disorder 4B skos:exactMatch NCIT:C155755 Peroxisome Biogenesis Disorder 4B semapv:UnspecifiedMatching MONDO:0013931 peroxisome biogenesis disorder 4B skos:exactMatch OMIM:614863 peroxisome biogenesis disorder 4b semapv:UnspecifiedMatching MONDO:0013931 peroxisome biogenesis disorder 4B skos:exactMatch Orphanet:95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome semapv:UnspecifiedMatching MONDO:0013931 peroxisome biogenesis disorder 4B skos:exactMatch UMLS:C3553937 semapv:UnspecifiedMatching MONDO:0013931 peroxisome biogenesis disorder 4B skos:exactMatch mesh:C537309 semapv:UnspecifiedMatching MONDO:0013932 peroxisome biogenesis disorder 5A (Zellweger) skos:exactMatch DOID:0080480 peroxisome biogenesis disorder 5A semapv:UnspecifiedMatching MONDO:0013932 peroxisome biogenesis disorder 5A (Zellweger) skos:exactMatch MEDGEN:766854 semapv:UnspecifiedMatching MONDO:0013932 peroxisome biogenesis disorder 5A (Zellweger) skos:exactMatch NCIT:C155756 Peroxisome Biogenesis Disorder 5A semapv:UnspecifiedMatching MONDO:0013932 peroxisome biogenesis disorder 5A (Zellweger) skos:exactMatch OMIM:614866 peroxisome biogenesis disorder 5a (zellweger) semapv:UnspecifiedMatching MONDO:0013932 peroxisome biogenesis disorder 5A (Zellweger) skos:exactMatch UMLS:C3553940 semapv:UnspecifiedMatching MONDO:0013933 peroxisome biogenesis disorder 5B skos:exactMatch DOID:0081434 Peroxisome biogenesis disorder 5B semapv:UnspecifiedMatching MONDO:0013933 peroxisome biogenesis disorder 5B skos:exactMatch MEDGEN:762202 semapv:UnspecifiedMatching MONDO:0013933 peroxisome biogenesis disorder 5B skos:exactMatch NCIT:C155757 Peroxisome Biogenesis Disorder 5B semapv:UnspecifiedMatching MONDO:0013933 peroxisome biogenesis disorder 5B skos:exactMatch OMIM:614867 peroxisome biogenesis disorder 5b semapv:UnspecifiedMatching MONDO:0013933 peroxisome biogenesis disorder 5B skos:exactMatch UMLS:C3542026 semapv:UnspecifiedMatching MONDO:0013934 combined immunodeficiency due to STK4 deficiency skos:exactMatch MEDGEN:766857 semapv:UnspecifiedMatching MONDO:0013934 combined immunodeficiency due to STK4 deficiency skos:exactMatch OMIM:614868 immunodeficiency 110 with lymphoproliferation semapv:UnspecifiedMatching MONDO:0013934 combined immunodeficiency due to STK4 deficiency skos:exactMatch Orphanet:314689 Combined immunodeficiency due to STK4 deficiency semapv:UnspecifiedMatching MONDO:0013934 combined immunodeficiency due to STK4 deficiency skos:exactMatch UMLS:C3553943 semapv:UnspecifiedMatching MONDO:0013936 peroxisome biogenesis disorder 6A (Zellweger) skos:exactMatch DOID:0080481 peroxisome biogenesis disorder 6A semapv:UnspecifiedMatching MONDO:0013936 peroxisome biogenesis disorder 6A (Zellweger) skos:exactMatch MEDGEN:766861 semapv:UnspecifiedMatching MONDO:0013936 peroxisome biogenesis disorder 6A (Zellweger) skos:exactMatch NCIT:C155758 Peroxisome Biogenesis Disorder 6A semapv:UnspecifiedMatching MONDO:0013936 peroxisome biogenesis disorder 6A (Zellweger) skos:exactMatch OMIM:614870 peroxisome biogenesis disorder 6a (zellweger) semapv:UnspecifiedMatching MONDO:0013936 peroxisome biogenesis disorder 6A (Zellweger) skos:exactMatch UMLS:C3553947 semapv:UnspecifiedMatching MONDO:0013936 peroxisome biogenesis disorder 6A (Zellweger) skos:exactMatch mesh:C566422 semapv:UnspecifiedMatching MONDO:0013937 peroxisome biogenesis disorder 6B skos:exactMatch DOID:0081435 Peroxisome biogenesis disorder 6B semapv:UnspecifiedMatching MONDO:0013937 peroxisome biogenesis disorder 6B skos:exactMatch MEDGEN:766862 semapv:UnspecifiedMatching MONDO:0013937 peroxisome biogenesis disorder 6B skos:exactMatch NCIT:C155759 Peroxisome Biogenesis Disorder 6B semapv:UnspecifiedMatching MONDO:0013937 peroxisome biogenesis disorder 6B skos:exactMatch OMIM:614871 peroxisome biogenesis disorder 6b semapv:UnspecifiedMatching MONDO:0013937 peroxisome biogenesis disorder 6B skos:exactMatch UMLS:C3553948 semapv:UnspecifiedMatching MONDO:0013938 peroxisome biogenesis disorder 7A (Zellweger) skos:exactMatch DOID:0080482 peroxisome biogenesis disorder 7A semapv:UnspecifiedMatching MONDO:0013938 peroxisome biogenesis disorder 7A (Zellweger) skos:exactMatch MEDGEN:854881 semapv:UnspecifiedMatching MONDO:0013938 peroxisome biogenesis disorder 7A (Zellweger) skos:exactMatch OMIM:614872 peroxisome biogenesis disorder 7a (zellweger) semapv:UnspecifiedMatching MONDO:0013938 peroxisome biogenesis disorder 7A (Zellweger) skos:exactMatch UMLS:C3888385 semapv:UnspecifiedMatching MONDO:0013939 peroxisome biogenesis disorder 7B skos:exactMatch DOID:0081436 Peroxisome biogenesis disorder 7B semapv:UnspecifiedMatching MONDO:0013939 peroxisome biogenesis disorder 7B skos:exactMatch MEDGEN:766865 semapv:UnspecifiedMatching MONDO:0013939 peroxisome biogenesis disorder 7B skos:exactMatch NCIT:C155761 Peroxisome Biogenesis Disorder 7B semapv:UnspecifiedMatching MONDO:0013939 peroxisome biogenesis disorder 7B skos:exactMatch OMIM:614873 peroxisome biogenesis disorder 7b semapv:UnspecifiedMatching MONDO:0013939 peroxisome biogenesis disorder 7B skos:exactMatch UMLS:C3553951 semapv:UnspecifiedMatching MONDO:0013940 primary ciliary dyskinesia 18 skos:exactMatch DOID:0110604 primary ciliary dyskinesia 18 semapv:UnspecifiedMatching MONDO:0013940 primary ciliary dyskinesia 18 skos:exactMatch MEDGEN:762331 semapv:UnspecifiedMatching MONDO:0013940 primary ciliary dyskinesia 18 skos:exactMatch OMIM:614874 ciliary dyskinesia, primary, 18 semapv:UnspecifiedMatching MONDO:0013940 primary ciliary dyskinesia 18 skos:exactMatch UMLS:C3543825 semapv:UnspecifiedMatching MONDO:0013941 metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria skos:exactMatch MEDGEN:766872 semapv:UnspecifiedMatching MONDO:0013941 metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria skos:exactMatch OMIM:614875 metaphyseal enchondromatosis with d-2-hydroxyglutaric aciduria semapv:UnspecifiedMatching MONDO:0013941 metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria skos:exactMatch Orphanet:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria semapv:UnspecifiedMatching MONDO:0013941 metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria skos:exactMatch UMLS:C3553958 semapv:UnspecifiedMatching MONDO:0013941 metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria skos:exactMatch icd11.foundation:1777127218 Metaphyseal chondromatosis with d-2-hydroxyglutaric aciduria semapv:UnspecifiedMatching MONDO:0013942 peroxisome biogenesis disorder 8A (Zellweger) skos:exactMatch DOID:0080483 peroxisome biogenesis disorder 8A semapv:UnspecifiedMatching MONDO:0013942 peroxisome biogenesis disorder 8A (Zellweger) skos:exactMatch MEDGEN:766873 semapv:UnspecifiedMatching MONDO:0013942 peroxisome biogenesis disorder 8A (Zellweger) skos:exactMatch OMIM:614876 peroxisome biogenesis disorder 8a (zellweger) semapv:UnspecifiedMatching MONDO:0013942 peroxisome biogenesis disorder 8A (Zellweger) skos:exactMatch UMLS:C3553959 semapv:UnspecifiedMatching MONDO:0013943 peroxisome biogenesis disorder 8B skos:exactMatch DOID:0081437 Peroxisome biogenesis disorder 8B semapv:UnspecifiedMatching MONDO:0013943 peroxisome biogenesis disorder 8B skos:exactMatch MEDGEN:766874 semapv:UnspecifiedMatching MONDO:0013943 peroxisome biogenesis disorder 8B skos:exactMatch NCIT:C155763 Peroxisome Biogenesis Disorder 8B semapv:UnspecifiedMatching MONDO:0013943 peroxisome biogenesis disorder 8B skos:exactMatch OMIM:614877 peroxisome biogenesis disorder 8b semapv:UnspecifiedMatching MONDO:0013943 peroxisome biogenesis disorder 8B skos:exactMatch UMLS:C3553960 semapv:UnspecifiedMatching MONDO:0013944 autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation skos:exactMatch DOID:0070615 autoinflammation, antibody deficiency, and immune dysregulation syndrome semapv:UnspecifiedMatching MONDO:0013944 autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation skos:exactMatch MEDGEN:766875 semapv:UnspecifiedMatching MONDO:0013944 autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation skos:exactMatch OMIM:614878 autoinflammation, antibody deficiency, and immune dysregulation semapv:UnspecifiedMatching MONDO:0013944 autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation skos:exactMatch Orphanet:324530 Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation semapv:UnspecifiedMatching MONDO:0013944 autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation skos:exactMatch UMLS:C3553961 semapv:UnspecifiedMatching MONDO:0013945 peroxisome biogenesis disorder 9B skos:exactMatch DOID:0081438 Peroxisome biogenesis disorder 9B semapv:UnspecifiedMatching MONDO:0013945 peroxisome biogenesis disorder 9B skos:exactMatch MEDGEN:440765 semapv:UnspecifiedMatching MONDO:0013945 peroxisome biogenesis disorder 9B skos:exactMatch OMIM:614879 peroxisome biogenesis disorder 9b semapv:UnspecifiedMatching MONDO:0013945 peroxisome biogenesis disorder 9B skos:exactMatch UMLS:C2749346 semapv:UnspecifiedMatching MONDO:0013946 hypogonadotropic hypogonadism 15 with or without anosmia skos:exactMatch DOID:0090075 hypogonadotropic hypogonadism 15 with or without anosmia semapv:UnspecifiedMatching MONDO:0013946 hypogonadotropic hypogonadism 15 with or without anosmia skos:exactMatch MEDGEN:766891 semapv:UnspecifiedMatching MONDO:0013946 hypogonadotropic hypogonadism 15 with or without anosmia skos:exactMatch OMIM:614880 hypogonadotropic hypogonadism 15 with or without anosmia semapv:UnspecifiedMatching MONDO:0013946 hypogonadotropic hypogonadism 15 with or without anosmia skos:exactMatch UMLS:C3553977 semapv:UnspecifiedMatching MONDO:0013947 neuronopathy, distal hereditary motor, autosomal recessive 5 skos:exactMatch DOID:0111214 autosomal recessive distal hereditary motor neuronopathy 5 semapv:UnspecifiedMatching MONDO:0013947 neuronopathy, distal hereditary motor, autosomal recessive 5 skos:exactMatch MEDGEN:1667915 semapv:UnspecifiedMatching MONDO:0013947 neuronopathy, distal hereditary motor, autosomal recessive 5 skos:exactMatch OMIM:614881 neuronopathy, distal hereditary motor, autosomal recessive 5 semapv:UnspecifiedMatching MONDO:0013947 neuronopathy, distal hereditary motor, autosomal recessive 5 skos:exactMatch Orphanet:314485 Young adult-onset distal hereditary motor neuropathy semapv:UnspecifiedMatching MONDO:0013947 neuronopathy, distal hereditary motor, autosomal recessive 5 skos:exactMatch UMLS:C4749918 semapv:UnspecifiedMatching MONDO:0013948 peroxisome biogenesis disorder 10A (Zellweger) skos:exactMatch DOID:0080484 peroxisome biogenesis disorder 10A semapv:UnspecifiedMatching MONDO:0013948 peroxisome biogenesis disorder 10A (Zellweger) skos:exactMatch MEDGEN:766913 semapv:UnspecifiedMatching MONDO:0013948 peroxisome biogenesis disorder 10A (Zellweger) skos:exactMatch OMIM:614882 peroxisome biogenesis disorder 10a (zellweger) semapv:UnspecifiedMatching MONDO:0013948 peroxisome biogenesis disorder 10A (Zellweger) skos:exactMatch UMLS:C3553999 semapv:UnspecifiedMatching MONDO:0013949 peroxisome biogenesis disorder 11A (Zellweger) skos:exactMatch DOID:0080485 peroxisome biogenesis disorder 11A semapv:UnspecifiedMatching MONDO:0013949 peroxisome biogenesis disorder 11A (Zellweger) skos:exactMatch MEDGEN:766914 semapv:UnspecifiedMatching MONDO:0013949 peroxisome biogenesis disorder 11A (Zellweger) skos:exactMatch OMIM:614883 peroxisome biogenesis disorder 11a (zellweger) semapv:UnspecifiedMatching MONDO:0013949 peroxisome biogenesis disorder 11A (Zellweger) skos:exactMatch UMLS:C3554000 semapv:UnspecifiedMatching MONDO:0013950 peroxisome biogenesis disorder 11B skos:exactMatch DOID:0081439 Peroxisome biogenesis disorder 11B semapv:UnspecifiedMatching MONDO:0013950 peroxisome biogenesis disorder 11B skos:exactMatch MEDGEN:766915 semapv:UnspecifiedMatching MONDO:0013950 peroxisome biogenesis disorder 11B skos:exactMatch OMIM:614885 peroxisome biogenesis disorder 11b semapv:UnspecifiedMatching MONDO:0013950 peroxisome biogenesis disorder 11B skos:exactMatch UMLS:C3554001 semapv:UnspecifiedMatching MONDO:0013951 peroxisome biogenesis disorder 12A (Zellweger) skos:exactMatch DOID:0080486 peroxisome biogenesis disorder 12A semapv:UnspecifiedMatching MONDO:0013951 peroxisome biogenesis disorder 12A (Zellweger) skos:exactMatch MEDGEN:766916 semapv:UnspecifiedMatching MONDO:0013951 peroxisome biogenesis disorder 12A (Zellweger) skos:exactMatch OMIM:614886 peroxisome biogenesis disorder 12a (zellweger) semapv:UnspecifiedMatching MONDO:0013951 peroxisome biogenesis disorder 12A (Zellweger) skos:exactMatch UMLS:C3554002 semapv:UnspecifiedMatching MONDO:0013952 peroxisome biogenesis disorder 13A (Zellweger) skos:exactMatch DOID:0080487 peroxisome biogenesis disorder 13A semapv:UnspecifiedMatching MONDO:0013952 peroxisome biogenesis disorder 13A (Zellweger) skos:exactMatch MEDGEN:766918 semapv:UnspecifiedMatching MONDO:0013952 peroxisome biogenesis disorder 13A (Zellweger) skos:exactMatch OMIM:614887 peroxisome biogenesis disorder 13a (zellweger) semapv:UnspecifiedMatching MONDO:0013952 peroxisome biogenesis disorder 13A (Zellweger) skos:exactMatch UMLS:C3554004 semapv:UnspecifiedMatching MONDO:0013952 peroxisome biogenesis disorder 13A (Zellweger) skos:exactMatch mesh:C566624 semapv:UnspecifiedMatching MONDO:0013953 immunodeficiency 28 skos:exactMatch DOID:0111995 immunodeficiency 28 semapv:UnspecifiedMatching MONDO:0013953 immunodeficiency 28 skos:exactMatch MEDGEN:862384 semapv:UnspecifiedMatching MONDO:0013953 immunodeficiency 28 skos:exactMatch OMIM:614889 immunodeficiency 28 semapv:UnspecifiedMatching MONDO:0013953 immunodeficiency 28 skos:exactMatch UMLS:C4013947 semapv:UnspecifiedMatching MONDO:0013954 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency skos:exactMatch DOID:0111950 immunodeficiency 29 semapv:UnspecifiedMatching MONDO:0013954 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency skos:exactMatch MEDGEN:862385 semapv:UnspecifiedMatching MONDO:0013954 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency skos:exactMatch OMIM:614890 immunodeficiency 29 semapv:UnspecifiedMatching MONDO:0013954 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency skos:exactMatch Orphanet:319558 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency semapv:UnspecifiedMatching MONDO:0013954 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency skos:exactMatch UMLS:C4013948 semapv:UnspecifiedMatching MONDO:0013955 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency skos:exactMatch DOID:0111990 immunodeficiency 30 semapv:UnspecifiedMatching MONDO:0013955 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency skos:exactMatch MEDGEN:862386 semapv:UnspecifiedMatching MONDO:0013955 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency skos:exactMatch OMIM:614891 immunodeficiency 30 semapv:UnspecifiedMatching MONDO:0013955 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency skos:exactMatch Orphanet:319552 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency semapv:UnspecifiedMatching MONDO:0013955 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency skos:exactMatch UMLS:C4013949 semapv:UnspecifiedMatching MONDO:0013956 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency skos:exactMatch DOID:0111945 immunodeficiency 31A semapv:UnspecifiedMatching MONDO:0013956 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency skos:exactMatch MEDGEN:862387 semapv:UnspecifiedMatching MONDO:0013956 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency skos:exactMatch OMIM:614892 immunodeficiency 31a semapv:UnspecifiedMatching MONDO:0013956 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency skos:exactMatch Orphanet:319595 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency semapv:UnspecifiedMatching MONDO:0013956 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency skos:exactMatch UMLS:C4013950 semapv:UnspecifiedMatching MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency skos:exactMatch DOID:0111986 immunodeficiency 32A semapv:UnspecifiedMatching MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency skos:exactMatch MEDGEN:814919 semapv:UnspecifiedMatching MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency skos:exactMatch OMIM:614893 immunodeficiency 32a semapv:UnspecifiedMatching MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency skos:exactMatch Orphanet:319600 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency semapv:UnspecifiedMatching MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency skos:exactMatch UMLS:C3808589 semapv:UnspecifiedMatching MONDO:0013959 Charcot-Marie-Tooth disease type 4F skos:exactMatch DOID:0110193 Charcot-Marie-Tooth disease type 4F semapv:UnspecifiedMatching MONDO:0013959 Charcot-Marie-Tooth disease type 4F skos:exactMatch MEDGEN:761704 semapv:UnspecifiedMatching MONDO:0013959 Charcot-Marie-Tooth disease type 4F skos:exactMatch OMIM:614895 charcot-marie-tooth disease, demyelinating, type 4f semapv:UnspecifiedMatching MONDO:0013959 Charcot-Marie-Tooth disease type 4F skos:exactMatch Orphanet:99952 Charcot-Marie-Tooth disease type 4F semapv:UnspecifiedMatching MONDO:0013959 Charcot-Marie-Tooth disease type 4F skos:exactMatch SCTID:715801001 semapv:UnspecifiedMatching MONDO:0013959 Charcot-Marie-Tooth disease type 4F skos:exactMatch UMLS:C3540453 semapv:UnspecifiedMatching MONDO:0013959 Charcot-Marie-Tooth disease type 4F skos:exactMatch icd11.foundation:330503211 Charcot-Marie-Tooth disease type 4F semapv:UnspecifiedMatching MONDO:0013960 sinoatrial node dysfunction and deafness skos:exactMatch MEDGEN:766932 semapv:UnspecifiedMatching MONDO:0013960 sinoatrial node dysfunction and deafness skos:exactMatch OMIM:614896 sinoatrial node dysfunction and deafness semapv:UnspecifiedMatching MONDO:0013960 sinoatrial node dysfunction and deafness skos:exactMatch Orphanet:324321 Sinoatrial node dysfunction and deafness semapv:UnspecifiedMatching MONDO:0013960 sinoatrial node dysfunction and deafness skos:exactMatch UMLS:C3554018 semapv:UnspecifiedMatching MONDO:0013961 hypogonadotropic hypogonadism 16 with or without anosmia skos:exactMatch DOID:0090080 hypogonadotropic hypogonadism 16 with or without anosmia semapv:UnspecifiedMatching MONDO:0013961 hypogonadotropic hypogonadism 16 with or without anosmia skos:exactMatch MEDGEN:766935 semapv:UnspecifiedMatching MONDO:0013961 hypogonadotropic hypogonadism 16 with or without anosmia skos:exactMatch OMIM:614897 hypogonadotropic hypogonadism 16 with or without anosmia semapv:UnspecifiedMatching MONDO:0013961 hypogonadotropic hypogonadism 16 with or without anosmia skos:exactMatch UMLS:C3554021 semapv:UnspecifiedMatching MONDO:0013962 hereditary spastic paraplegia 53 skos:exactMatch DOID:0110805 hereditary spastic paraplegia 53 semapv:UnspecifiedMatching MONDO:0013962 hereditary spastic paraplegia 53 skos:exactMatch MEDGEN:761340 semapv:UnspecifiedMatching MONDO:0013962 hereditary spastic paraplegia 53 skos:exactMatch OMIM:614898 spastic paraplegia 53, autosomal recessive semapv:UnspecifiedMatching MONDO:0013962 hereditary spastic paraplegia 53 skos:exactMatch Orphanet:319199 Autosomal recessive spastic paraplegia type 53 semapv:UnspecifiedMatching MONDO:0013962 hereditary spastic paraplegia 53 skos:exactMatch SCTID:723823004 semapv:UnspecifiedMatching MONDO:0013962 hereditary spastic paraplegia 53 skos:exactMatch UMLS:C3539494 semapv:UnspecifiedMatching MONDO:0013963 autosomal recessive nonsyndromic hearing loss 93 skos:exactMatch DOID:0110537 autosomal recessive nonsyndromic deafness 93 semapv:UnspecifiedMatching MONDO:0013963 autosomal recessive nonsyndromic hearing loss 93 skos:exactMatch MEDGEN:854875 semapv:UnspecifiedMatching MONDO:0013963 autosomal recessive nonsyndromic hearing loss 93 skos:exactMatch OMIM:614899 deafness, autosomal recessive 93 semapv:UnspecifiedMatching MONDO:0013963 autosomal recessive nonsyndromic hearing loss 93 skos:exactMatch UMLS:C3888355 semapv:UnspecifiedMatching MONDO:0013964 Diamond-Blackfan anemia 11 skos:exactMatch DOID:0111892 Diamond-Blackfan anemia 11 semapv:UnspecifiedMatching MONDO:0013964 Diamond-Blackfan anemia 11 skos:exactMatch MEDGEN:766956 semapv:UnspecifiedMatching MONDO:0013964 Diamond-Blackfan anemia 11 skos:exactMatch NCIT:C176920 Diamond-Blackfan Anemia 11 semapv:UnspecifiedMatching MONDO:0013964 Diamond-Blackfan anemia 11 skos:exactMatch OMIM:614900 diamond-blackfan anemia 11 semapv:UnspecifiedMatching MONDO:0013964 Diamond-Blackfan anemia 11 skos:exactMatch UMLS:C3554042 semapv:UnspecifiedMatching MONDO:0013965 lethal congenital contracture syndrome 4 skos:exactMatch DOID:0060654 lethal congenital contracture syndrome 4 semapv:UnspecifiedMatching MONDO:0013965 lethal congenital contracture syndrome 4 skos:exactMatch MEDGEN:766960 semapv:UnspecifiedMatching MONDO:0013965 lethal congenital contracture syndrome 4 skos:exactMatch OMIM:614915 lethal congenital contracture syndrome 4 semapv:UnspecifiedMatching MONDO:0013965 lethal congenital contracture syndrome 4 skos:exactMatch UMLS:C3554046 semapv:UnspecifiedMatching MONDO:0013966 catecholaminergic polymorphic ventricular tachycardia 4 skos:exactMatch DOID:0060678 catecholaminergic polymorphic ventricular tachycardia 4 semapv:UnspecifiedMatching MONDO:0013966 catecholaminergic polymorphic ventricular tachycardia 4 skos:exactMatch MEDGEN:766961 semapv:UnspecifiedMatching MONDO:0013966 catecholaminergic polymorphic ventricular tachycardia 4 skos:exactMatch OMIM:614916 ventricular tachycardia, catecholaminergic polymorphic, 4 semapv:UnspecifiedMatching MONDO:0013966 catecholaminergic polymorphic ventricular tachycardia 4 skos:exactMatch UMLS:C3554047 semapv:UnspecifiedMatching MONDO:0013967 peroxisome biogenesis disorder 14B skos:exactMatch DOID:0081274 peroxisome biogenesis disorder 14B semapv:UnspecifiedMatching MONDO:0013967 peroxisome biogenesis disorder 14B skos:exactMatch MEDGEN:766969 semapv:UnspecifiedMatching MONDO:0013967 peroxisome biogenesis disorder 14B skos:exactMatch OMIM:614920 peroxisome biogenesis disorder 14b semapv:UnspecifiedMatching MONDO:0013967 peroxisome biogenesis disorder 14B skos:exactMatch UMLS:C3554055 semapv:UnspecifiedMatching MONDO:0013968 PGM1-congenital disorder of glycosylation skos:exactMatch DOID:0080570 congenital disorder of glycosylation It semapv:UnspecifiedMatching MONDO:0013968 PGM1-congenital disorder of glycosylation skos:exactMatch MEDGEN:414536 semapv:UnspecifiedMatching MONDO:0013968 PGM1-congenital disorder of glycosylation skos:exactMatch OMIM:614921 congenital disorder of glycosylation, type it semapv:UnspecifiedMatching MONDO:0013968 PGM1-congenital disorder of glycosylation skos:exactMatch Orphanet:319646 PGM1-CDG semapv:UnspecifiedMatching MONDO:0013968 PGM1-congenital disorder of glycosylation skos:exactMatch UMLS:C2752015 semapv:UnspecifiedMatching MONDO:0013968 PGM1-congenital disorder of glycosylation skos:exactMatch icd11.foundation:1592319293 Phosphoglucomutase-1 deficiency semapv:UnspecifiedMatching MONDO:0013968 PGM1-congenital disorder of glycosylation skos:exactMatch mesh:C567859 semapv:UnspecifiedMatching MONDO:0013969 combined oxidative phosphorylation defect type 11 skos:exactMatch DOID:0111481 combined oxidative phosphorylation deficiency 11 semapv:UnspecifiedMatching MONDO:0013969 combined oxidative phosphorylation defect type 11 skos:exactMatch MEDGEN:1682397 semapv:UnspecifiedMatching MONDO:0013969 combined oxidative phosphorylation defect type 11 skos:exactMatch OMIM:614922 combined oxidative phosphorylation deficiency 11 semapv:UnspecifiedMatching MONDO:0013969 combined oxidative phosphorylation defect type 11 skos:exactMatch Orphanet:324535 Combined oxidative phosphorylation defect type 11 semapv:UnspecifiedMatching MONDO:0013969 combined oxidative phosphorylation defect type 11 skos:exactMatch UMLS:C5190991 semapv:UnspecifiedMatching MONDO:0013970 branched-chain keto acid dehydrogenase kinase deficiency skos:exactMatch DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency semapv:UnspecifiedMatching MONDO:0013970 branched-chain keto acid dehydrogenase kinase deficiency skos:exactMatch MEDGEN:766992 semapv:UnspecifiedMatching MONDO:0013970 branched-chain keto acid dehydrogenase kinase deficiency skos:exactMatch OMIM:614923 branched-chain keto acid dehydrogenase kinase deficiency semapv:UnspecifiedMatching MONDO:0013970 branched-chain keto acid dehydrogenase kinase deficiency skos:exactMatch Orphanet:308410 Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency semapv:UnspecifiedMatching MONDO:0013970 branched-chain keto acid dehydrogenase kinase deficiency skos:exactMatch UMLS:C3554078 semapv:UnspecifiedMatching MONDO:0013971 leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome skos:exactMatch DOID:0111493 combined oxidative phosphorylation deficiency 12 semapv:UnspecifiedMatching MONDO:0013971 leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome skos:exactMatch MEDGEN:1645614 semapv:UnspecifiedMatching MONDO:0013971 leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome skos:exactMatch OMIM:614924 combined oxidative phosphorylation deficiency 12 semapv:UnspecifiedMatching MONDO:0013971 leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome skos:exactMatch Orphanet:314051 Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome semapv:UnspecifiedMatching MONDO:0013971 leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome skos:exactMatch SCTID:763366000 semapv:UnspecifiedMatching MONDO:0013971 leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome skos:exactMatch UMLS:C4706421 semapv:UnspecifiedMatching MONDO:0013972 Perrault syndrome 2 skos:exactMatch DOID:0061117 Perrault syndrome 2 semapv:UnspecifiedMatching MONDO:0013972 Perrault syndrome 2 skos:exactMatch MEDGEN:767019 semapv:UnspecifiedMatching MONDO:0013972 Perrault syndrome 2 skos:exactMatch OMIM:614926 perrault syndrome 2 semapv:UnspecifiedMatching MONDO:0013972 Perrault syndrome 2 skos:exactMatch Orphanet:642976 Perrault syndrome type 2 semapv:UnspecifiedMatching MONDO:0013972 Perrault syndrome 2 skos:exactMatch UMLS:C3554105 semapv:UnspecifiedMatching MONDO:0013973 ectodermal dysplasia 5, hair/nail type skos:exactMatch DOID:0111657 ectodermal dysplasia 5 semapv:UnspecifiedMatching MONDO:0013973 ectodermal dysplasia 5, hair/nail type skos:exactMatch MEDGEN:767022 semapv:UnspecifiedMatching MONDO:0013973 ectodermal dysplasia 5, hair/nail type skos:exactMatch OMIM:614927 ectodermal dysplasia 5, hair/nail type semapv:UnspecifiedMatching MONDO:0013973 ectodermal dysplasia 5, hair/nail type skos:exactMatch UMLS:C3554108 semapv:UnspecifiedMatching MONDO:0013974 ectodermal dysplasia 6, hair/nail type skos:exactMatch DOID:0111659 ectodermal dysplasia 6 semapv:UnspecifiedMatching MONDO:0013974 ectodermal dysplasia 6, hair/nail type skos:exactMatch MEDGEN:767025 semapv:UnspecifiedMatching MONDO:0013974 ectodermal dysplasia 6, hair/nail type skos:exactMatch OMIM:614928 ectodermal dysplasia 6, hair/nail type semapv:UnspecifiedMatching MONDO:0013974 ectodermal dysplasia 6, hair/nail type skos:exactMatch UMLS:C3554111 semapv:UnspecifiedMatching MONDO:0013975 ectodermal dysplasia 7, hair/nail type skos:exactMatch DOID:0111660 ectodermal dysplasia 7 semapv:UnspecifiedMatching MONDO:0013975 ectodermal dysplasia 7, hair/nail type skos:exactMatch MEDGEN:767031 semapv:UnspecifiedMatching MONDO:0013975 ectodermal dysplasia 7, hair/nail type skos:exactMatch OMIM:614929 ectodermal dysplasia 7, hair/nail type semapv:UnspecifiedMatching MONDO:0013975 ectodermal dysplasia 7, hair/nail type skos:exactMatch UMLS:C3554117 semapv:UnspecifiedMatching MONDO:0013976 ectodermal dysplasia 9, hair/nail type skos:exactMatch DOID:0111656 ectodermal dysplasia 9 semapv:UnspecifiedMatching MONDO:0013976 ectodermal dysplasia 9, hair/nail type skos:exactMatch MEDGEN:767041 semapv:UnspecifiedMatching MONDO:0013976 ectodermal dysplasia 9, hair/nail type skos:exactMatch OMIM:614931 ectodermal dysplasia 9, hair/nail type semapv:UnspecifiedMatching MONDO:0013976 ectodermal dysplasia 9, hair/nail type skos:exactMatch UMLS:C3554127 semapv:UnspecifiedMatching MONDO:0013977 combined oxidative phosphorylation defect type 13 skos:exactMatch DOID:0111467 combined oxidative phosphorylation deficiency 13 semapv:UnspecifiedMatching MONDO:0013977 combined oxidative phosphorylation defect type 13 skos:exactMatch MEDGEN:1631854 semapv:UnspecifiedMatching MONDO:0013977 combined oxidative phosphorylation defect type 13 skos:exactMatch OMIM:614932 combined oxidative phosphorylation deficiency 13 semapv:UnspecifiedMatching MONDO:0013977 combined oxidative phosphorylation defect type 13 skos:exactMatch Orphanet:319514 Combined oxidative phosphorylation defect type 13 semapv:UnspecifiedMatching MONDO:0013977 combined oxidative phosphorylation defect type 13 skos:exactMatch SCTID:763110007 semapv:UnspecifiedMatching MONDO:0013977 combined oxidative phosphorylation defect type 13 skos:exactMatch UMLS:C4706283 semapv:UnspecifiedMatching MONDO:0013978 autosomal recessive nonsyndromic hearing loss 70 skos:exactMatch DOID:0110521 autosomal recessive nonsyndromic deafness 70 semapv:UnspecifiedMatching MONDO:0013978 autosomal recessive nonsyndromic hearing loss 70 skos:exactMatch MEDGEN:760477 semapv:UnspecifiedMatching MONDO:0013978 autosomal recessive nonsyndromic hearing loss 70 skos:exactMatch OMIM:614934 deafness, autosomal recessive 70, with or without adult-onset neurodegeneration semapv:UnspecifiedMatching MONDO:0013978 autosomal recessive nonsyndromic hearing loss 70 skos:exactMatch UMLS:C1824925 semapv:UnspecifiedMatching MONDO:0013979 primary ciliary dyskinesia 19 skos:exactMatch DOID:0110608 primary ciliary dyskinesia 19 semapv:UnspecifiedMatching MONDO:0013979 primary ciliary dyskinesia 19 skos:exactMatch MEDGEN:762332 semapv:UnspecifiedMatching MONDO:0013979 primary ciliary dyskinesia 19 skos:exactMatch OMIM:614935 ciliary dyskinesia, primary, 19 semapv:UnspecifiedMatching MONDO:0013979 primary ciliary dyskinesia 19 skos:exactMatch UMLS:C3543826 semapv:UnspecifiedMatching MONDO:0013980 palmoplantar keratoderma, punctate type ib skos:exactMatch MEDGEN:767059 semapv:UnspecifiedMatching MONDO:0013980 palmoplantar keratoderma, punctate type ib skos:exactMatch OMIM:614936 palmoplantar keratoderma, punctate type 1b semapv:UnspecifiedMatching MONDO:0013980 palmoplantar keratoderma, punctate type ib skos:exactMatch UMLS:C3554145 semapv:UnspecifiedMatching MONDO:0013981 myoclonus, familial skos:exactMatch OMIMPS:614937 Myoclonus, familial semapv:UnspecifiedMatching MONDO:0013981 myoclonus, familial skos:exactMatch Orphanet:319189 Familial cortical myoclonus semapv:UnspecifiedMatching MONDO:0013981 myoclonus, familial skos:exactMatch SCTID:763770005 semapv:UnspecifiedMatching MONDO:0013982 ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant skos:exactMatch DOID:0111653 ectodermal dysplasia 11A semapv:UnspecifiedMatching MONDO:0013982 ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant skos:exactMatch MEDGEN:762105 semapv:UnspecifiedMatching MONDO:0013982 ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant skos:exactMatch OMIM:614940 ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant semapv:UnspecifiedMatching MONDO:0013982 ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant skos:exactMatch UMLS:C3541517 semapv:UnspecifiedMatching MONDO:0013983 ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive skos:exactMatch DOID:0111654 ectodermal dysplasia 11B semapv:UnspecifiedMatching MONDO:0013983 ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive skos:exactMatch MEDGEN:761671 semapv:UnspecifiedMatching MONDO:0013983 ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive skos:exactMatch OMIM:614941 ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive semapv:UnspecifiedMatching MONDO:0013983 ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive skos:exactMatch UMLS:C3539920 semapv:UnspecifiedMatching MONDO:0013984 autosomal recessive nonsyndromic hearing loss 84B skos:exactMatch DOID:0110530 autosomal recessive nonsyndromic deafness 84B semapv:UnspecifiedMatching MONDO:0013984 autosomal recessive nonsyndromic hearing loss 84B skos:exactMatch MEDGEN:767073 semapv:UnspecifiedMatching MONDO:0013984 autosomal recessive nonsyndromic hearing loss 84B skos:exactMatch OMIM:614944 deafness, autosomal recessive 84b semapv:UnspecifiedMatching MONDO:0013984 autosomal recessive nonsyndromic hearing loss 84B skos:exactMatch UMLS:C3554159 semapv:UnspecifiedMatching MONDO:0013985 autosomal recessive nonsyndromic hearing loss 18B skos:exactMatch DOID:0110474 autosomal recessive nonsyndromic deafness 18B semapv:UnspecifiedMatching MONDO:0013985 autosomal recessive nonsyndromic hearing loss 18B skos:exactMatch MEDGEN:767077 semapv:UnspecifiedMatching MONDO:0013985 autosomal recessive nonsyndromic hearing loss 18B skos:exactMatch OMIM:614945 deafness, autosomal recessive 18b semapv:UnspecifiedMatching MONDO:0013985 autosomal recessive nonsyndromic hearing loss 18B skos:exactMatch UMLS:C3554163 semapv:UnspecifiedMatching MONDO:0013986 combined oxidative phosphorylation defect type 14 skos:exactMatch DOID:0111477 combined oxidative phosphorylation deficiency 14 semapv:UnspecifiedMatching MONDO:0013986 combined oxidative phosphorylation defect type 14 skos:exactMatch MEDGEN:1663069 semapv:UnspecifiedMatching MONDO:0013986 combined oxidative phosphorylation defect type 14 skos:exactMatch OMIM:614946 combined oxidative phosphorylation deficiency 14 semapv:UnspecifiedMatching MONDO:0013986 combined oxidative phosphorylation defect type 14 skos:exactMatch Orphanet:319519 Combined oxidative phosphorylation defect type 14 semapv:UnspecifiedMatching MONDO:0013986 combined oxidative phosphorylation defect type 14 skos:exactMatch UMLS:C4755312 semapv:UnspecifiedMatching MONDO:0013987 combined oxidative phosphorylation defect type 15 skos:exactMatch DOID:0111491 combined oxidative phosphorylation deficiency 15 semapv:UnspecifiedMatching MONDO:0013987 combined oxidative phosphorylation defect type 15 skos:exactMatch MEDGEN:1646555 semapv:UnspecifiedMatching MONDO:0013987 combined oxidative phosphorylation defect type 15 skos:exactMatch OMIM:614947 combined oxidative phosphorylation deficiency 15 semapv:UnspecifiedMatching MONDO:0013987 combined oxidative phosphorylation defect type 15 skos:exactMatch Orphanet:319524 Combined oxidative phosphorylation defect type 15 semapv:UnspecifiedMatching MONDO:0013987 combined oxidative phosphorylation defect type 15 skos:exactMatch SCTID:763203009 semapv:UnspecifiedMatching MONDO:0013987 combined oxidative phosphorylation defect type 15 skos:exactMatch UMLS:C4706313 semapv:UnspecifiedMatching MONDO:0013988 congenital heart defects, multiple types, 3 skos:exactMatch MEDGEN:767108 semapv:UnspecifiedMatching MONDO:0013988 congenital heart defects, multiple types, 3 skos:exactMatch OMIM:614954 congenital heart defects, multiple types, 3 semapv:UnspecifiedMatching MONDO:0013988 congenital heart defects, multiple types, 3 skos:exactMatch UMLS:C3554194 semapv:UnspecifiedMatching MONDO:0013989 developmental and epileptic encephalopathy, 14 skos:exactMatch DOID:0080439 developmental and epileptic encephalopathy 14 semapv:UnspecifiedMatching MONDO:0013989 developmental and epileptic encephalopathy, 14 skos:exactMatch MEDGEN:767109 semapv:UnspecifiedMatching MONDO:0013989 developmental and epileptic encephalopathy, 14 skos:exactMatch OMIM:614959 developmental and epileptic encephalopathy 14 semapv:UnspecifiedMatching MONDO:0013989 developmental and epileptic encephalopathy, 14 skos:exactMatch UMLS:C3554195 semapv:UnspecifiedMatching MONDO:0013990 pontocerebellar hypoplasia type 8 skos:exactMatch DOID:0060277 pontocerebellar hypoplasia type 8 semapv:UnspecifiedMatching MONDO:0013990 pontocerebellar hypoplasia type 8 skos:exactMatch MEDGEN:767123 semapv:UnspecifiedMatching MONDO:0013990 pontocerebellar hypoplasia type 8 skos:exactMatch OMIM:614961 pontocerebellar hypoplasia, type 8 semapv:UnspecifiedMatching MONDO:0013990 pontocerebellar hypoplasia type 8 skos:exactMatch Orphanet:324569 Pontocerebellar hypoplasia type 8 semapv:UnspecifiedMatching MONDO:0013990 pontocerebellar hypoplasia type 8 skos:exactMatch SCTID:718611007 semapv:UnspecifiedMatching MONDO:0013990 pontocerebellar hypoplasia type 8 skos:exactMatch UMLS:C3554209 semapv:UnspecifiedMatching MONDO:0013991 obesity due to congenital leptin deficiency skos:exactMatch DOID:0111334 congenital leptin deficiency semapv:UnspecifiedMatching MONDO:0013991 obesity due to congenital leptin deficiency skos:exactMatch MEDGEN:767138 semapv:UnspecifiedMatching MONDO:0013991 obesity due to congenital leptin deficiency skos:exactMatch OMIM:614962 leptin deficiency or dysfunction semapv:UnspecifiedMatching MONDO:0013991 obesity due to congenital leptin deficiency skos:exactMatch Orphanet:66628 Obesity due to congenital leptin deficiency semapv:UnspecifiedMatching MONDO:0013991 obesity due to congenital leptin deficiency skos:exactMatch UMLS:C3554224 semapv:UnspecifiedMatching MONDO:0013991 obesity due to congenital leptin deficiency skos:exactMatch icd11.foundation:591009309 Obesity due to congenital leptin deficiency semapv:UnspecifiedMatching MONDO:0013992 obesity due to leptin receptor gene deficiency skos:exactMatch MEDGEN:767139 semapv:UnspecifiedMatching MONDO:0013992 obesity due to leptin receptor gene deficiency skos:exactMatch NCIT:C120386 Leptin Receptor Deficiency semapv:UnspecifiedMatching MONDO:0013992 obesity due to leptin receptor gene deficiency skos:exactMatch OMIM:614963 leptin receptor deficiency semapv:UnspecifiedMatching MONDO:0013992 obesity due to leptin receptor gene deficiency skos:exactMatch Orphanet:179494 Obesity due to leptin receptor gene deficiency semapv:UnspecifiedMatching MONDO:0013992 obesity due to leptin receptor gene deficiency skos:exactMatch UMLS:C3554225 semapv:UnspecifiedMatching MONDO:0013992 obesity due to leptin receptor gene deficiency skos:exactMatch icd11.foundation:997823205 Obesity due to leptin receptor gene deficiency semapv:UnspecifiedMatching MONDO:0013993 pontocerebellar hypoplasia type 7 skos:exactMatch DOID:0060276 pontocerebellar hypoplasia type 7 semapv:UnspecifiedMatching MONDO:0013993 pontocerebellar hypoplasia type 7 skos:exactMatch MEDGEN:767140 semapv:UnspecifiedMatching MONDO:0013993 pontocerebellar hypoplasia type 7 skos:exactMatch OMIM:614969 pontocerebellar hypoplasia, type 7 semapv:UnspecifiedMatching MONDO:0013993 pontocerebellar hypoplasia type 7 skos:exactMatch Orphanet:284339 Pontocerebellar hypoplasia type 7 semapv:UnspecifiedMatching MONDO:0013993 pontocerebellar hypoplasia type 7 skos:exactMatch SCTID:718605009 semapv:UnspecifiedMatching MONDO:0013993 pontocerebellar hypoplasia type 7 skos:exactMatch UMLS:C3554226 semapv:UnspecifiedMatching MONDO:0013994 Joubert syndrome 20 skos:exactMatch DOID:0110989 Joubert syndrome 20 semapv:UnspecifiedMatching MONDO:0013994 Joubert syndrome 20 skos:exactMatch MEDGEN:767149 semapv:UnspecifiedMatching MONDO:0013994 Joubert syndrome 20 skos:exactMatch OMIM:614970 joubert syndrome 20 semapv:UnspecifiedMatching MONDO:0013994 Joubert syndrome 20 skos:exactMatch UMLS:C3554235 semapv:UnspecifiedMatching MONDO:0013995 cholestasis, intrahepatic, of pregnancy, 3 skos:exactMatch DOID:0070229 intrahepatic cholestasis of pregnancy 3 semapv:UnspecifiedMatching MONDO:0013995 cholestasis, intrahepatic, of pregnancy, 3 skos:exactMatch MEDGEN:767155 semapv:UnspecifiedMatching MONDO:0013995 cholestasis, intrahepatic, of pregnancy, 3 skos:exactMatch OMIM:614972 cholestasis, intrahepatic, of pregnancy 3 semapv:UnspecifiedMatching MONDO:0013995 cholestasis, intrahepatic, of pregnancy, 3 skos:exactMatch UMLS:C3554241 semapv:UnspecifiedMatching MONDO:0013996 focal facial dermal dysplasia type II skos:exactMatch MEDGEN:767159 semapv:UnspecifiedMatching MONDO:0013996 focal facial dermal dysplasia type II skos:exactMatch OMIM:614973 focal facial dermal dysplasia 2, brauer-setleis type semapv:UnspecifiedMatching MONDO:0013996 focal facial dermal dysplasia type II skos:exactMatch Orphanet:398173 Focal facial dermal dysplasia type II semapv:UnspecifiedMatching MONDO:0013996 focal facial dermal dysplasia type II skos:exactMatch UMLS:C3554245 semapv:UnspecifiedMatching MONDO:0013997 focal facial dermal dysplasia type IV skos:exactMatch MEDGEN:767160 semapv:UnspecifiedMatching MONDO:0013997 focal facial dermal dysplasia type IV skos:exactMatch OMIM:614974 focal facial dermal dysplasia 4 semapv:UnspecifiedMatching MONDO:0013997 focal facial dermal dysplasia type IV skos:exactMatch Orphanet:398189 Focal facial dermal dysplasia type IV semapv:UnspecifiedMatching MONDO:0013997 focal facial dermal dysplasia type IV skos:exactMatch UMLS:C3554246 semapv:UnspecifiedMatching MONDO:0013998 MEGF8-related Carpenter syndrome skos:exactMatch DOID:0061099 Carpenter syndrome 2 semapv:UnspecifiedMatching MONDO:0013998 MEGF8-related Carpenter syndrome skos:exactMatch MEDGEN:767161 semapv:UnspecifiedMatching MONDO:0013998 MEGF8-related Carpenter syndrome skos:exactMatch OMIM:614976 carpenter syndrome 2 semapv:UnspecifiedMatching MONDO:0013998 MEGF8-related Carpenter syndrome skos:exactMatch UMLS:C3554247 semapv:UnspecifiedMatching MONDO:0013999 retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome skos:exactMatch MEDGEN:1662266 semapv:UnspecifiedMatching MONDO:0013999 retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome skos:exactMatch OMIM:614979 retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome semapv:UnspecifiedMatching MONDO:0013999 retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome skos:exactMatch Orphanet:313800 Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome semapv:UnspecifiedMatching MONDO:0013999 retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome skos:exactMatch UMLS:C4749914 semapv:UnspecifiedMatching MONDO:0014000 congenital heart defects, multiple types, 2 skos:exactMatch MEDGEN:767193 semapv:UnspecifiedMatching MONDO:0014000 congenital heart defects, multiple types, 2 skos:exactMatch OMIM:614980 congenital heart defects, multiple types, 2 semapv:UnspecifiedMatching MONDO:0014000 congenital heart defects, multiple types, 2 skos:exactMatch UMLS:C3554279 semapv:UnspecifiedMatching MONDO:0014001 Usher syndrome type 1K skos:exactMatch DOID:0110837 Usher syndrome type 1K semapv:UnspecifiedMatching MONDO:0014001 Usher syndrome type 1K skos:exactMatch MEDGEN:761332 semapv:UnspecifiedMatching MONDO:0014001 Usher syndrome type 1K skos:exactMatch OMIM:614990 usher syndrome, type 1k semapv:UnspecifiedMatching MONDO:0014001 Usher syndrome type 1K skos:exactMatch UMLS:C3539124 semapv:UnspecifiedMatching MONDO:0014002 autosomal dominant nocturnal frontal lobe epilepsy 5 skos:exactMatch DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 semapv:UnspecifiedMatching MONDO:0014002 autosomal dominant nocturnal frontal lobe epilepsy 5 skos:exactMatch MEDGEN:767220 semapv:UnspecifiedMatching MONDO:0014002 autosomal dominant nocturnal frontal lobe epilepsy 5 skos:exactMatch OMIM:615005 epilepsy, nocturnal frontal lobe, 5 semapv:UnspecifiedMatching MONDO:0014002 autosomal dominant nocturnal frontal lobe epilepsy 5 skos:exactMatch UMLS:C3554306 semapv:UnspecifiedMatching MONDO:0014003 developmental and epileptic encephalopathy, 15 skos:exactMatch DOID:0080414 developmental and epileptic encephalopathy 15 semapv:UnspecifiedMatching MONDO:0014003 developmental and epileptic encephalopathy, 15 skos:exactMatch MEDGEN:767230 semapv:UnspecifiedMatching MONDO:0014003 developmental and epileptic encephalopathy, 15 skos:exactMatch OMIM:615006 developmental and epileptic encephalopathy 15 semapv:UnspecifiedMatching MONDO:0014003 developmental and epileptic encephalopathy, 15 skos:exactMatch UMLS:C3554316 semapv:UnspecifiedMatching MONDO:0014004 basal ganglia calcification, idiopathic, 4 skos:exactMatch MEDGEN:767235 semapv:UnspecifiedMatching MONDO:0014004 basal ganglia calcification, idiopathic, 4 skos:exactMatch OMIM:615007 basal ganglia calcification, idiopathic, 4 semapv:UnspecifiedMatching MONDO:0014004 basal ganglia calcification, idiopathic, 4 skos:exactMatch UMLS:C3554321 semapv:UnspecifiedMatching MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis skos:exactMatch DOID:0080388 nephrotic syndrome type 7 semapv:UnspecifiedMatching MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis skos:exactMatch MEDGEN:767244 semapv:UnspecifiedMatching MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis skos:exactMatch NCIT:C123055 Immune Complex Mediated Membranoproliferative Glomerulonephritis semapv:UnspecifiedMatching MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis skos:exactMatch OMIM:615008 nephrotic syndrome, type 7 semapv:UnspecifiedMatching MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis skos:exactMatch Orphanet:329903 Immunoglobulin-mediated membranoproliferative glomerulonephritis semapv:UnspecifiedMatching MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis skos:exactMatch UMLS:C3554330 semapv:UnspecifiedMatching MONDO:0014006 Schuurs-Hoeijmakers syndrome skos:exactMatch DOID:0070047 Schuurs-Hoeijmakers Syndrome semapv:UnspecifiedMatching MONDO:0014006 Schuurs-Hoeijmakers syndrome skos:exactMatch MEDGEN:767257 semapv:UnspecifiedMatching MONDO:0014006 Schuurs-Hoeijmakers syndrome skos:exactMatch NCIT:C150555 Schuurs-Hoeijmakers Syndrome semapv:UnspecifiedMatching MONDO:0014006 Schuurs-Hoeijmakers syndrome skos:exactMatch OMIM:615009 schuurs-hoeijmakers syndrome semapv:UnspecifiedMatching MONDO:0014006 Schuurs-Hoeijmakers syndrome skos:exactMatch Orphanet:329224 Schuurs-Hoeijmakers syndrome semapv:UnspecifiedMatching MONDO:0014006 Schuurs-Hoeijmakers syndrome skos:exactMatch UMLS:C3554343 semapv:UnspecifiedMatching MONDO:0014007 Aicardi-Goutieres syndrome 6 skos:exactMatch MEDGEN:761287 semapv:UnspecifiedMatching MONDO:0014007 Aicardi-Goutieres syndrome 6 skos:exactMatch OMIM:615010 aicardi-goutieres syndrome 6 semapv:UnspecifiedMatching MONDO:0014007 Aicardi-Goutieres syndrome 6 skos:exactMatch UMLS:C3539013 semapv:UnspecifiedMatching MONDO:0014008 phosphohydroxylysinuria skos:exactMatch MEDGEN:767258 semapv:UnspecifiedMatching MONDO:0014008 phosphohydroxylysinuria skos:exactMatch OMIM:615011 phosphohydroxylysinuria semapv:UnspecifiedMatching MONDO:0014008 phosphohydroxylysinuria skos:exactMatch UMLS:C3554344 semapv:UnspecifiedMatching MONDO:0014009 autosomal recessive congenital ichthyosis 7 skos:exactMatch DOID:0060716 autosomal recessive congenital ichthyosis 7 semapv:UnspecifiedMatching MONDO:0014009 autosomal recessive congenital ichthyosis 7 skos:exactMatch MEDGEN:767262 semapv:UnspecifiedMatching MONDO:0014009 autosomal recessive congenital ichthyosis 7 skos:exactMatch OMIM:615022 ichthyosis, congenital, autosomal recessive 7 semapv:UnspecifiedMatching MONDO:0014009 autosomal recessive congenital ichthyosis 7 skos:exactMatch UMLS:C3554348 semapv:UnspecifiedMatching MONDO:0014010 autosomal recessive congenital ichthyosis 9 skos:exactMatch DOID:0060718 autosomal recessive congenital ichthyosis 9 semapv:UnspecifiedMatching MONDO:0014010 autosomal recessive congenital ichthyosis 9 skos:exactMatch MEDGEN:767263 semapv:UnspecifiedMatching MONDO:0014010 autosomal recessive congenital ichthyosis 9 skos:exactMatch OMIM:615023 ichthyosis, congenital, autosomal recessive 9 semapv:UnspecifiedMatching MONDO:0014010 autosomal recessive congenital ichthyosis 9 skos:exactMatch UMLS:C3554349 semapv:UnspecifiedMatching MONDO:0014011 autosomal recessive congenital ichthyosis 10 skos:exactMatch DOID:0060719 autosomal recessive congenital ichthyosis 10 semapv:UnspecifiedMatching MONDO:0014011 autosomal recessive congenital ichthyosis 10 skos:exactMatch MEDGEN:767269 semapv:UnspecifiedMatching MONDO:0014011 autosomal recessive congenital ichthyosis 10 skos:exactMatch OMIM:615024 ichthyosis, congenital, autosomal recessive 10 semapv:UnspecifiedMatching MONDO:0014011 autosomal recessive congenital ichthyosis 10 skos:exactMatch UMLS:C3554355 semapv:UnspecifiedMatching MONDO:0014012 Charcot-Marie-Tooth disease axonal type 2Q skos:exactMatch DOID:0110170 Charcot-Marie-Tooth disease axonal type 2Q semapv:UnspecifiedMatching MONDO:0014012 Charcot-Marie-Tooth disease axonal type 2Q skos:exactMatch MEDGEN:767280 semapv:UnspecifiedMatching MONDO:0014012 Charcot-Marie-Tooth disease axonal type 2Q skos:exactMatch OMIM:615025 charcot-marie-tooth disease, axonal, type 2q semapv:UnspecifiedMatching MONDO:0014012 Charcot-Marie-Tooth disease axonal type 2Q skos:exactMatch Orphanet:329258 Autosomal dominant Charcot-Marie-Tooth disease type 2Q semapv:UnspecifiedMatching MONDO:0014012 Charcot-Marie-Tooth disease axonal type 2Q skos:exactMatch UMLS:C3554366 semapv:UnspecifiedMatching MONDO:0014013 maternal riboflavin deficiency skos:exactMatch MEDGEN:1657395 semapv:UnspecifiedMatching MONDO:0014013 maternal riboflavin deficiency skos:exactMatch Orphanet:411712 Maternal riboflavin deficiency semapv:UnspecifiedMatching MONDO:0014013 maternal riboflavin deficiency skos:exactMatch UMLS:C4750953 semapv:UnspecifiedMatching MONDO:0014014 epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive skos:exactMatch MEDGEN:767281 semapv:UnspecifiedMatching MONDO:0014014 epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive skos:exactMatch OMIM:615028 epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive semapv:UnspecifiedMatching MONDO:0014014 epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive skos:exactMatch Orphanet:412189 Epidermolysis bullosa simplex due to exophilin 5 deficiency semapv:UnspecifiedMatching MONDO:0014014 epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive skos:exactMatch UMLS:C3554367 semapv:UnspecifiedMatching MONDO:0014015 hereditary spastic paraplegia 56 skos:exactMatch DOID:0110808 hereditary spastic paraplegia 56 semapv:UnspecifiedMatching MONDO:0014015 hereditary spastic paraplegia 56 skos:exactMatch MEDGEN:761343 semapv:UnspecifiedMatching MONDO:0014015 hereditary spastic paraplegia 56 skos:exactMatch OMIM:615030 spastic paraplegia 56, autosomal recessive, with or without pseudoxanthoma elasticum semapv:UnspecifiedMatching MONDO:0014015 hereditary spastic paraplegia 56 skos:exactMatch Orphanet:320411 Autosomal recessive spastic paraplegia type 56 semapv:UnspecifiedMatching MONDO:0014015 hereditary spastic paraplegia 56 skos:exactMatch UMLS:C3539507 semapv:UnspecifiedMatching MONDO:0014016 hereditary spastic paraplegia 49 skos:exactMatch DOID:0110801 hereditary spastic paraplegia 49 semapv:UnspecifiedMatching MONDO:0014016 hereditary spastic paraplegia 49 skos:exactMatch MEDGEN:762260 semapv:UnspecifiedMatching MONDO:0014016 hereditary spastic paraplegia 49 skos:exactMatch OMIM:615031 neuropathy, hereditary sensory and autonomic, type ix, with developmental delay semapv:UnspecifiedMatching MONDO:0014016 hereditary spastic paraplegia 49 skos:exactMatch Orphanet:320385 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation semapv:UnspecifiedMatching MONDO:0014016 hereditary spastic paraplegia 49 skos:exactMatch UMLS:C3542549 semapv:UnspecifiedMatching MONDO:0014017 intellectual developmental disorder with autism and macrocephaly skos:exactMatch MEDGEN:767287 semapv:UnspecifiedMatching MONDO:0014017 intellectual developmental disorder with autism and macrocephaly skos:exactMatch OMIM:615032 intellectual developmental disorder with autism and macrocephaly semapv:UnspecifiedMatching MONDO:0014017 intellectual developmental disorder with autism and macrocephaly skos:exactMatch Orphanet:642675 CHD8 overgrowth syndrome semapv:UnspecifiedMatching MONDO:0014017 intellectual developmental disorder with autism and macrocephaly skos:exactMatch UMLS:C3554373 semapv:UnspecifiedMatching MONDO:0014018 hereditary spastic paraplegia 54 skos:exactMatch DOID:0110806 hereditary spastic paraplegia 54 semapv:UnspecifiedMatching MONDO:0014018 hereditary spastic paraplegia 54 skos:exactMatch MEDGEN:761341 semapv:UnspecifiedMatching MONDO:0014018 hereditary spastic paraplegia 54 skos:exactMatch OMIM:615033 spastic paraplegia 54, autosomal recessive semapv:UnspecifiedMatching MONDO:0014018 hereditary spastic paraplegia 54 skos:exactMatch Orphanet:320380 Autosomal recessive spastic paraplegia type 54 semapv:UnspecifiedMatching MONDO:0014018 hereditary spastic paraplegia 54 skos:exactMatch SCTID:723824005 semapv:UnspecifiedMatching MONDO:0014018 hereditary spastic paraplegia 54 skos:exactMatch UMLS:C3539495 semapv:UnspecifiedMatching MONDO:0014019 dystonia 24 skos:exactMatch DOID:0090052 dystonia 24 semapv:UnspecifiedMatching MONDO:0014019 dystonia 24 skos:exactMatch MEDGEN:767288 semapv:UnspecifiedMatching MONDO:0014019 dystonia 24 skos:exactMatch OMIM:615034 dystonia 24 semapv:UnspecifiedMatching MONDO:0014019 dystonia 24 skos:exactMatch Orphanet:420485 Cranio-cervical dystonia with laryngeal and upper-limb involvement semapv:UnspecifiedMatching MONDO:0014019 dystonia 24 skos:exactMatch UMLS:C3554374 semapv:UnspecifiedMatching MONDO:0014020 hereditary spastic paraplegia 55 skos:exactMatch DOID:0110807 hereditary spastic paraplegia 55 semapv:UnspecifiedMatching MONDO:0014020 hereditary spastic paraplegia 55 skos:exactMatch MEDGEN:761342 semapv:UnspecifiedMatching MONDO:0014020 hereditary spastic paraplegia 55 skos:exactMatch OMIM:615035 spastic paraplegia 55, autosomal recessive semapv:UnspecifiedMatching MONDO:0014020 hereditary spastic paraplegia 55 skos:exactMatch Orphanet:320375 Autosomal recessive spastic paraplegia type 55 semapv:UnspecifiedMatching MONDO:0014020 hereditary spastic paraplegia 55 skos:exactMatch SCTID:723825006 semapv:UnspecifiedMatching MONDO:0014020 hereditary spastic paraplegia 55 skos:exactMatch UMLS:C3539506 semapv:UnspecifiedMatching MONDO:0014021 familial episodic pain syndrome with predominantly upper body involvement skos:exactMatch DOID:0111729 familial episodic pain syndrome 1 semapv:UnspecifiedMatching MONDO:0014021 familial episodic pain syndrome with predominantly upper body involvement skos:exactMatch MEDGEN:814997 semapv:UnspecifiedMatching MONDO:0014021 familial episodic pain syndrome with predominantly upper body involvement skos:exactMatch OMIM:615040 episodic pain syndrome, familial, 1 semapv:UnspecifiedMatching MONDO:0014021 familial episodic pain syndrome with predominantly upper body involvement skos:exactMatch Orphanet:391389 Familial episodic pain syndrome with predominantly upper body involvement semapv:UnspecifiedMatching MONDO:0014021 familial episodic pain syndrome with predominantly upper body involvement skos:exactMatch UMLS:C3808667 semapv:UnspecifiedMatching MONDO:0014022 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 skos:exactMatch DOID:0111239 congenital muscular dystrophy-dystroglycanopathy type A10 semapv:UnspecifiedMatching MONDO:0014022 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 skos:exactMatch MEDGEN:767295 semapv:UnspecifiedMatching MONDO:0014022 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 skos:exactMatch OMIM:615041 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 semapv:UnspecifiedMatching MONDO:0014022 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 skos:exactMatch UMLS:C3554381 semapv:UnspecifiedMatching MONDO:0014023 congenital muscular dystrophy with intellectual disability and severe epilepsy skos:exactMatch DOID:0080571 congenital disorder of glycosylation Iu semapv:UnspecifiedMatching MONDO:0014023 congenital muscular dystrophy with intellectual disability and severe epilepsy skos:exactMatch MEDGEN:1682844 semapv:UnspecifiedMatching MONDO:0014023 congenital muscular dystrophy with intellectual disability and severe epilepsy skos:exactMatch OMIM:615042 congenital disorder of glycosylation, type iu semapv:UnspecifiedMatching MONDO:0014023 congenital muscular dystrophy with intellectual disability and severe epilepsy skos:exactMatch Orphanet:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy semapv:UnspecifiedMatching MONDO:0014023 congenital muscular dystrophy with intellectual disability and severe epilepsy skos:exactMatch UMLS:C5190603 semapv:UnspecifiedMatching MONDO:0014024 hereditary spastic paraplegia 43 skos:exactMatch DOID:0110795 hereditary spastic paraplegia 43 semapv:UnspecifiedMatching MONDO:0014024 hereditary spastic paraplegia 43 skos:exactMatch MEDGEN:760531 semapv:UnspecifiedMatching MONDO:0014024 hereditary spastic paraplegia 43 skos:exactMatch OMIM:615043 spastic paraplegia 43, autosomal recessive semapv:UnspecifiedMatching MONDO:0014024 hereditary spastic paraplegia 43 skos:exactMatch Orphanet:320370 Autosomal recessive spastic paraplegia type 43 semapv:UnspecifiedMatching MONDO:0014024 hereditary spastic paraplegia 43 skos:exactMatch SCTID:764736001 semapv:UnspecifiedMatching MONDO:0014024 hereditary spastic paraplegia 43 skos:exactMatch UMLS:C2680446 semapv:UnspecifiedMatching MONDO:0014025 lower motor neuron syndrome with late-adult onset skos:exactMatch DOID:0081356 spinal muscular atrophy, Jokela type semapv:UnspecifiedMatching MONDO:0014025 lower motor neuron syndrome with late-adult onset skos:exactMatch MEDGEN:767312 semapv:UnspecifiedMatching MONDO:0014025 lower motor neuron syndrome with late-adult onset skos:exactMatch OMIM:615048 spinal muscular atrophy, jokela type semapv:UnspecifiedMatching MONDO:0014025 lower motor neuron syndrome with late-adult onset skos:exactMatch Orphanet:276435 Lower motor neuron syndrome with late-adult onset semapv:UnspecifiedMatching MONDO:0014025 lower motor neuron syndrome with late-adult onset skos:exactMatch UMLS:C3554398 semapv:UnspecifiedMatching MONDO:0014025 lower motor neuron syndrome with late-adult onset skos:exactMatch icd11.foundation:1650555742 Lower motor neuron syndrome with late-adult onset semapv:UnspecifiedMatching MONDO:0014026 congenital stationary night blindness 1F skos:exactMatch DOID:0110864 congenital stationary night blindness 1F semapv:UnspecifiedMatching MONDO:0014026 congenital stationary night blindness 1F skos:exactMatch MEDGEN:767313 semapv:UnspecifiedMatching MONDO:0014026 congenital stationary night blindness 1F skos:exactMatch OMIM:615058 night blindness, congenital stationary, type 1f semapv:UnspecifiedMatching MONDO:0014026 congenital stationary night blindness 1F skos:exactMatch UMLS:C3554399 semapv:UnspecifiedMatching MONDO:0014027 hypotrichosis 11 skos:exactMatch DOID:0110708 hypotrichosis 11 semapv:UnspecifiedMatching MONDO:0014027 hypotrichosis 11 skos:exactMatch MEDGEN:767323 semapv:UnspecifiedMatching MONDO:0014027 hypotrichosis 11 skos:exactMatch OMIM:615059 hypotrichosis 11 semapv:UnspecifiedMatching MONDO:0014027 hypotrichosis 11 skos:exactMatch UMLS:C3554409 semapv:UnspecifiedMatching MONDO:0014028 distal arthrogryposis type 5D skos:exactMatch DOID:0111594 distal arthrogryposis type 5D semapv:UnspecifiedMatching MONDO:0014028 distal arthrogryposis type 5D skos:exactMatch MEDGEN:767329 semapv:UnspecifiedMatching MONDO:0014028 distal arthrogryposis type 5D skos:exactMatch OMIM:615065 arthrogryposis, distal, type 5d semapv:UnspecifiedMatching MONDO:0014028 distal arthrogryposis type 5D skos:exactMatch Orphanet:329457 Distal arthrogryposis type 5D semapv:UnspecifiedMatching MONDO:0014028 distal arthrogryposis type 5D skos:exactMatch UMLS:C3554415 semapv:UnspecifiedMatching MONDO:0014029 osteogenesis imperfecta type 14 skos:exactMatch DOID:0110343 osteogenesis imperfecta type 14 semapv:UnspecifiedMatching MONDO:0014029 osteogenesis imperfecta type 14 skos:exactMatch MEDGEN:767342 semapv:UnspecifiedMatching MONDO:0014029 osteogenesis imperfecta type 14 skos:exactMatch OMIM:615066 osteogenesis imperfecta, type 14 semapv:UnspecifiedMatching MONDO:0014029 osteogenesis imperfecta type 14 skos:exactMatch UMLS:C3554428 semapv:UnspecifiedMatching MONDO:0014030 primary ciliary dyskinesia 20 skos:exactMatch DOID:0110625 primary ciliary dyskinesia 20 semapv:UnspecifiedMatching MONDO:0014030 primary ciliary dyskinesia 20 skos:exactMatch MEDGEN:761920 semapv:UnspecifiedMatching MONDO:0014030 primary ciliary dyskinesia 20 skos:exactMatch OMIM:615067 ciliary dyskinesia, primary, 20 semapv:UnspecifiedMatching MONDO:0014030 primary ciliary dyskinesia 20 skos:exactMatch UMLS:C3540844 semapv:UnspecifiedMatching MONDO:0014031 microcephalic primordial dwarfism, Alazami type skos:exactMatch MEDGEN:767353 semapv:UnspecifiedMatching MONDO:0014031 microcephalic primordial dwarfism, Alazami type skos:exactMatch OMIM:615071 alazami syndrome semapv:UnspecifiedMatching MONDO:0014031 microcephalic primordial dwarfism, Alazami type skos:exactMatch Orphanet:319671 Alazami syndrome semapv:UnspecifiedMatching MONDO:0014031 microcephalic primordial dwarfism, Alazami type skos:exactMatch UMLS:C3554439 semapv:UnspecifiedMatching MONDO:0014032 brachydactyly type A1C skos:exactMatch DOID:0110977 brachydactyly type A1C semapv:UnspecifiedMatching MONDO:0014032 brachydactyly type A1C skos:exactMatch MEDGEN:767360 semapv:UnspecifiedMatching MONDO:0014032 brachydactyly type A1C skos:exactMatch OMIM:615072 brachydactyly, type a1, c semapv:UnspecifiedMatching MONDO:0014032 brachydactyly type A1C skos:exactMatch UMLS:C3554446 semapv:UnspecifiedMatching MONDO:0014033 dystonia 25 skos:exactMatch DOID:0090055 dystonia 25 semapv:UnspecifiedMatching MONDO:0014033 dystonia 25 skos:exactMatch MEDGEN:930339 semapv:UnspecifiedMatching MONDO:0014033 dystonia 25 skos:exactMatch OMIM:615073 dystonia 25 semapv:UnspecifiedMatching MONDO:0014033 dystonia 25 skos:exactMatch Orphanet:329466 Autosomal dominant focal dystonia, DYT25 type semapv:UnspecifiedMatching MONDO:0014033 dystonia 25 skos:exactMatch UMLS:C4304670 semapv:UnspecifiedMatching MONDO:0014034 severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome skos:exactMatch DOID:0070048 GAND syndrome semapv:UnspecifiedMatching MONDO:0014034 severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome skos:exactMatch MEDGEN:767362 semapv:UnspecifiedMatching MONDO:0014034 severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome skos:exactMatch OMIM:615074 GAND syndrome semapv:UnspecifiedMatching MONDO:0014034 severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome skos:exactMatch Orphanet:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome semapv:UnspecifiedMatching MONDO:0014034 severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome skos:exactMatch UMLS:C3554448 semapv:UnspecifiedMatching MONDO:0014035 severe intellectual disability-progressive spastic diplegia syndrome skos:exactMatch DOID:0070049 autosomal dominant intellectual developmental disorder 19 semapv:UnspecifiedMatching MONDO:0014035 severe intellectual disability-progressive spastic diplegia syndrome skos:exactMatch ICD10CM:Q87.88 semapv:UnspecifiedMatching MONDO:0014035 severe intellectual disability-progressive spastic diplegia syndrome skos:exactMatch MEDGEN:767363 semapv:UnspecifiedMatching MONDO:0014035 severe intellectual disability-progressive spastic diplegia syndrome skos:exactMatch OMIM:615075 neurodevelopmental disorder with spastic diplegia and visual defects semapv:UnspecifiedMatching MONDO:0014035 severe intellectual disability-progressive spastic diplegia syndrome skos:exactMatch Orphanet:404473 Intellectual disability-peripheral spasticity-exudative vitreoretinopathy syndrome semapv:UnspecifiedMatching MONDO:0014035 severe intellectual disability-progressive spastic diplegia syndrome skos:exactMatch UMLS:C3554449 semapv:UnspecifiedMatching MONDO:0014036 Alzheimer disease 17 skos:exactMatch DOID:0110049 Alzheimer's disease 17 semapv:UnspecifiedMatching MONDO:0014036 Alzheimer disease 17 skos:exactMatch MEDGEN:767366 semapv:UnspecifiedMatching MONDO:0014036 Alzheimer disease 17 skos:exactMatch OMIM:615080 alzheimer disease 17 semapv:UnspecifiedMatching MONDO:0014036 Alzheimer disease 17 skos:exactMatch UMLS:C3554452 semapv:UnspecifiedMatching MONDO:0014037 spermatogenic failure 11 skos:exactMatch DOID:0070180 spermatogenic failure 11 semapv:UnspecifiedMatching MONDO:0014037 spermatogenic failure 11 skos:exactMatch MEDGEN:767367 semapv:UnspecifiedMatching MONDO:0014037 spermatogenic failure 11 skos:exactMatch OMIM:615081 spermatogenic failure 11 semapv:UnspecifiedMatching MONDO:0014037 spermatogenic failure 11 skos:exactMatch UMLS:C3554453 semapv:UnspecifiedMatching MONDO:0014038 colorectal cancer, susceptibility to, 12 skos:exactMatch MEDGEN:767374 semapv:UnspecifiedMatching MONDO:0014038 colorectal cancer, susceptibility to, 12 skos:exactMatch OMIM:615083 colorectal cancer, susceptibility to, 12 semapv:UnspecifiedMatching MONDO:0014038 colorectal cancer, susceptibility to, 12 skos:exactMatch UMLS:C3554460 semapv:UnspecifiedMatching MONDO:0014039 mitochondrial DNA depletion syndrome 11 skos:exactMatch DOID:0080129 mitochondrial DNA depletion syndrome 11 semapv:UnspecifiedMatching MONDO:0014039 mitochondrial DNA depletion syndrome 11 skos:exactMatch MEDGEN:767376 semapv:UnspecifiedMatching MONDO:0014039 mitochondrial DNA depletion syndrome 11 skos:exactMatch OMIM:615084 mitochondrial DNA depletion syndrome 11 semapv:UnspecifiedMatching MONDO:0014039 mitochondrial DNA depletion syndrome 11 skos:exactMatch Orphanet:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome semapv:UnspecifiedMatching MONDO:0014039 mitochondrial DNA depletion syndrome 11 skos:exactMatch UMLS:C3554462 semapv:UnspecifiedMatching MONDO:0014040 autosomal recessive osteopetrosis 8 skos:exactMatch DOID:0110940 autosomal recessive osteopetrosis 8 semapv:UnspecifiedMatching MONDO:0014040 autosomal recessive osteopetrosis 8 skos:exactMatch MEDGEN:767392 semapv:UnspecifiedMatching MONDO:0014040 autosomal recessive osteopetrosis 8 skos:exactMatch NCIT:C150556 Autosomal Recessive Osteopetrosis 8 semapv:UnspecifiedMatching MONDO:0014040 autosomal recessive osteopetrosis 8 skos:exactMatch OMIM:615085 osteopetrosis, autosomal recessive 8 semapv:UnspecifiedMatching MONDO:0014040 autosomal recessive osteopetrosis 8 skos:exactMatch UMLS:C3554478 semapv:UnspecifiedMatching MONDO:0014041 autism, susceptibility to, 19 skos:exactMatch MEDGEN:767409 semapv:UnspecifiedMatching MONDO:0014041 autism, susceptibility to, 19 skos:exactMatch OMIM:615091 autism, susceptibility to, 19 semapv:UnspecifiedMatching MONDO:0014041 autism, susceptibility to, 19 skos:exactMatch UMLS:C3554495 semapv:UnspecifiedMatching MONDO:0014042 left ventricular noncompaction 7 skos:exactMatch MEDGEN:767410 semapv:UnspecifiedMatching MONDO:0014042 left ventricular noncompaction 7 skos:exactMatch NCIT:C157266 Left Ventricular Noncompaction 7 semapv:UnspecifiedMatching MONDO:0014042 left ventricular noncompaction 7 skos:exactMatch OMIM:615092 left ventricular noncompaction 7 semapv:UnspecifiedMatching MONDO:0014042 left ventricular noncompaction 7 skos:exactMatch UMLS:C3554496 semapv:UnspecifiedMatching MONDO:0014043 microcephalic primordial dwarfism due to ZNF335 deficiency skos:exactMatch DOID:0070294 primary autosomal recessive microcephaly 10 semapv:UnspecifiedMatching MONDO:0014043 microcephalic primordial dwarfism due to ZNF335 deficiency skos:exactMatch MEDGEN:767413 semapv:UnspecifiedMatching MONDO:0014043 microcephalic primordial dwarfism due to ZNF335 deficiency skos:exactMatch OMIM:615095 microcephaly 10, primary, autosomal recessive semapv:UnspecifiedMatching MONDO:0014043 microcephalic primordial dwarfism due to ZNF335 deficiency skos:exactMatch Orphanet:329228 Microcephalic primordial dwarfism due to ZNF335 deficiency semapv:UnspecifiedMatching MONDO:0014043 microcephalic primordial dwarfism due to ZNF335 deficiency skos:exactMatch SCTID:724141003 semapv:UnspecifiedMatching MONDO:0014043 microcephalic primordial dwarfism due to ZNF335 deficiency skos:exactMatch UMLS:C3554499 semapv:UnspecifiedMatching MONDO:0014044 dysmorphism-conductive hearing loss-heart defect syndrome skos:exactMatch MEDGEN:767688 semapv:UnspecifiedMatching MONDO:0014044 dysmorphism-conductive hearing loss-heart defect syndrome skos:exactMatch OMIM:615102 tyshchenko syndrome semapv:UnspecifiedMatching MONDO:0014044 dysmorphism-conductive hearing loss-heart defect syndrome skos:exactMatch Orphanet:289553 Dysmorphism-conductive hearing loss-heart defect syndrome semapv:UnspecifiedMatching MONDO:0014044 dysmorphism-conductive hearing loss-heart defect syndrome skos:exactMatch SCTID:763279007 semapv:UnspecifiedMatching MONDO:0014044 dysmorphism-conductive hearing loss-heart defect syndrome skos:exactMatch UMLS:C3554774 semapv:UnspecifiedMatching MONDO:0014046 Cowden syndrome 4 skos:exactMatch DOID:0081000 Cowden syndrome 4 semapv:UnspecifiedMatching MONDO:0014046 Cowden syndrome 4 skos:exactMatch MEDGEN:767431 semapv:UnspecifiedMatching MONDO:0014046 Cowden syndrome 4 skos:exactMatch OMIM:615107 cowden syndrome 4 semapv:UnspecifiedMatching MONDO:0014046 Cowden syndrome 4 skos:exactMatch UMLS:C3554517 semapv:UnspecifiedMatching MONDO:0014047 Cowden syndrome 5 skos:exactMatch DOID:0081001 Cowden syndrome 5 semapv:UnspecifiedMatching MONDO:0014047 Cowden syndrome 5 skos:exactMatch MEDGEN:767432 semapv:UnspecifiedMatching MONDO:0014047 Cowden syndrome 5 skos:exactMatch OMIM:615108 cowden syndrome 5 semapv:UnspecifiedMatching MONDO:0014047 Cowden syndrome 5 skos:exactMatch UMLS:C3554518 semapv:UnspecifiedMatching MONDO:0014048 Cowden syndrome 6 skos:exactMatch DOID:0081002 Cowden syndrome 6 semapv:UnspecifiedMatching MONDO:0014048 Cowden syndrome 6 skos:exactMatch MEDGEN:767433 semapv:UnspecifiedMatching MONDO:0014048 Cowden syndrome 6 skos:exactMatch OMIM:615109 cowden syndrome 6 semapv:UnspecifiedMatching MONDO:0014048 Cowden syndrome 6 skos:exactMatch UMLS:C3554519 semapv:UnspecifiedMatching MONDO:0014049 urofacial syndrome 2 skos:exactMatch MEDGEN:767434 semapv:UnspecifiedMatching MONDO:0014049 urofacial syndrome 2 skos:exactMatch OMIM:615112 urofacial syndrome 2 semapv:UnspecifiedMatching MONDO:0014049 urofacial syndrome 2 skos:exactMatch UMLS:C3554520 semapv:UnspecifiedMatching MONDO:0014050 isolated microphthalmia 8 skos:exactMatch DOID:0060841 isolated microphthalmia 8 semapv:UnspecifiedMatching MONDO:0014050 isolated microphthalmia 8 skos:exactMatch MEDGEN:767438 semapv:UnspecifiedMatching MONDO:0014050 isolated microphthalmia 8 skos:exactMatch OMIM:615113 microphthalmia, isolated 8 semapv:UnspecifiedMatching MONDO:0014050 isolated microphthalmia 8 skos:exactMatch UMLS:C3554524 semapv:UnspecifiedMatching MONDO:0014051 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 skos:exactMatch DOID:0080358 mitochondrial complex IV deficiency nuclear type 6 semapv:UnspecifiedMatching MONDO:0014051 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 skos:exactMatch MEDGEN:767448 semapv:UnspecifiedMatching MONDO:0014051 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 skos:exactMatch OMIM:615119 mitochondrial complex 4 deficiency, nuclear type 6 semapv:UnspecifiedMatching MONDO:0014051 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 skos:exactMatch UMLS:C3554534 semapv:UnspecifiedMatching MONDO:0014052 congenital myasthenic syndrome 8 skos:exactMatch DOID:0110657 congenital myasthenic syndrome 8 semapv:UnspecifiedMatching MONDO:0014052 congenital myasthenic syndrome 8 skos:exactMatch MEDGEN:815069 semapv:UnspecifiedMatching MONDO:0014052 congenital myasthenic syndrome 8 skos:exactMatch OMIM:615120 myasthenic syndrome, congenital, 8 semapv:UnspecifiedMatching MONDO:0014052 congenital myasthenic syndrome 8 skos:exactMatch UMLS:C3808739 semapv:UnspecifiedMatching MONDO:0014053 obsolete stomatin-like protein-2, hyperphosphorylation of skos:exactMatch OMIM:615121 stomatin-like protein-2, hyperphosphorylation of semapv:UnspecifiedMatching MONDO:0014054 lymphoproliferative syndrome 2 skos:exactMatch DOID:0060708 lymphoproliferative syndrome 2 semapv:UnspecifiedMatching MONDO:0014054 lymphoproliferative syndrome 2 skos:exactMatch MEDGEN:767454 semapv:UnspecifiedMatching MONDO:0014054 lymphoproliferative syndrome 2 skos:exactMatch OMIM:615122 lymphoproliferative syndrome 2 semapv:UnspecifiedMatching MONDO:0014054 lymphoproliferative syndrome 2 skos:exactMatch Orphanet:238505 Combined immunodeficiency due to CD27 deficiency semapv:UnspecifiedMatching MONDO:0014054 lymphoproliferative syndrome 2 skos:exactMatch UMLS:C3554540 semapv:UnspecifiedMatching MONDO:0014055 epilepsy, familial adult myoclonic, 4 skos:exactMatch DOID:0111693 familial adult myoclonic epilepsy 4 semapv:UnspecifiedMatching MONDO:0014055 epilepsy, familial adult myoclonic, 4 skos:exactMatch MEDGEN:767474 semapv:UnspecifiedMatching MONDO:0014055 epilepsy, familial adult myoclonic, 4 skos:exactMatch OMIM:615127 epilepsy, familial adult myoclonic, 4 semapv:UnspecifiedMatching MONDO:0014055 epilepsy, familial adult myoclonic, 4 skos:exactMatch UMLS:C3554560 semapv:UnspecifiedMatching MONDO:0014056 melanoma, cutaneous malignant, susceptibility to, 9 skos:exactMatch MEDGEN:767488 semapv:UnspecifiedMatching MONDO:0014056 melanoma, cutaneous malignant, susceptibility to, 9 skos:exactMatch OMIM:615134 melanoma, cutaneous malignant, susceptibility to, 9 semapv:UnspecifiedMatching MONDO:0014056 melanoma, cutaneous malignant, susceptibility to, 9 skos:exactMatch UMLS:C3554574 semapv:UnspecifiedMatching MONDO:0014057 maple syrup urine disease, mild variant skos:exactMatch DOID:0061205 mild variant of maple syrup urine disease semapv:UnspecifiedMatching MONDO:0014057 maple syrup urine disease, mild variant skos:exactMatch MEDGEN:767489 semapv:UnspecifiedMatching MONDO:0014057 maple syrup urine disease, mild variant skos:exactMatch OMIM:615135 maple syrup urine disease, mild variant semapv:UnspecifiedMatching MONDO:0014057 maple syrup urine disease, mild variant skos:exactMatch UMLS:C3554575 semapv:UnspecifiedMatching MONDO:0014058 facial dysmorphism-immunodeficiency-livedo-short stature syndrome skos:exactMatch MEDGEN:767490 semapv:UnspecifiedMatching MONDO:0014058 facial dysmorphism-immunodeficiency-livedo-short stature syndrome skos:exactMatch OMIM:615139 facial dysmorphism, immunodeficiency, livedo, and short stature semapv:UnspecifiedMatching MONDO:0014058 facial dysmorphism-immunodeficiency-livedo-short stature syndrome skos:exactMatch Orphanet:352712 Facial dysmorphism-immunodeficiency-livedo-short stature syndrome semapv:UnspecifiedMatching MONDO:0014058 facial dysmorphism-immunodeficiency-livedo-short stature syndrome skos:exactMatch UMLS:C3554576 semapv:UnspecifiedMatching MONDO:0014059 microphthalmia, isolated, with coloboma 9 skos:exactMatch MEDGEN:767506 semapv:UnspecifiedMatching MONDO:0014059 microphthalmia, isolated, with coloboma 9 skos:exactMatch OMIM:615145 microphthalmia/coloboma 9 semapv:UnspecifiedMatching MONDO:0014059 microphthalmia, isolated, with coloboma 9 skos:exactMatch UMLS:C3554592 semapv:UnspecifiedMatching MONDO:0014060 progressive retinal dystrophy due to retinol transport defect skos:exactMatch MEDGEN:767507 semapv:UnspecifiedMatching MONDO:0014060 progressive retinal dystrophy due to retinol transport defect skos:exactMatch OMIM:615147 retinal dystrophy, iris coloboma, and comedogenic acne syndrome semapv:UnspecifiedMatching MONDO:0014060 progressive retinal dystrophy due to retinol transport defect skos:exactMatch Orphanet:352718 Progressive retinal dystrophy due to retinol transport defect semapv:UnspecifiedMatching MONDO:0014060 progressive retinal dystrophy due to retinol transport defect skos:exactMatch UMLS:C3554593 semapv:UnspecifiedMatching MONDO:0014061 Steel syndrome skos:exactMatch MEDGEN:767508 semapv:UnspecifiedMatching MONDO:0014061 Steel syndrome skos:exactMatch OMIM:615155 steel syndrome semapv:UnspecifiedMatching MONDO:0014061 Steel syndrome skos:exactMatch Orphanet:438117 Steel syndrome semapv:UnspecifiedMatching MONDO:0014061 Steel syndrome skos:exactMatch UMLS:C3554594 semapv:UnspecifiedMatching MONDO:0014062 mitochondrial DNA deletion syndrome with progressive myopathy skos:exactMatch DOID:0111519 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6 semapv:UnspecifiedMatching MONDO:0014062 mitochondrial DNA deletion syndrome with progressive myopathy skos:exactMatch MEDGEN:767513 semapv:UnspecifiedMatching MONDO:0014062 mitochondrial DNA deletion syndrome with progressive myopathy skos:exactMatch OMIM:615156 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 semapv:UnspecifiedMatching MONDO:0014062 mitochondrial DNA deletion syndrome with progressive myopathy skos:exactMatch Orphanet:352470 DNA2-related mitochondrial DNA deletion syndrome semapv:UnspecifiedMatching MONDO:0014062 mitochondrial DNA deletion syndrome with progressive myopathy skos:exactMatch UMLS:C3554599 semapv:UnspecifiedMatching MONDO:0014063 mitochondrial complex III deficiency nuclear type 2 skos:exactMatch DOID:0060351 mitochondrial complex III deficiency nuclear type 2 semapv:UnspecifiedMatching MONDO:0014063 mitochondrial complex III deficiency nuclear type 2 skos:exactMatch MEDGEN:767519 semapv:UnspecifiedMatching MONDO:0014063 mitochondrial complex III deficiency nuclear type 2 skos:exactMatch OMIM:615157 mitochondrial complex 3 deficiency, nuclear type 2 semapv:UnspecifiedMatching MONDO:0014063 mitochondrial complex III deficiency nuclear type 2 skos:exactMatch UMLS:C3554605 semapv:UnspecifiedMatching MONDO:0014064 mitochondrial complex III deficiency nuclear type 3 skos:exactMatch DOID:0080112 mitochondrial complex III deficiency nuclear type 3 semapv:UnspecifiedMatching MONDO:0014064 mitochondrial complex III deficiency nuclear type 3 skos:exactMatch MEDGEN:767520 semapv:UnspecifiedMatching MONDO:0014064 mitochondrial complex III deficiency nuclear type 3 skos:exactMatch OMIM:615158 mitochondrial complex 3 deficiency, nuclear type 3 semapv:UnspecifiedMatching MONDO:0014064 mitochondrial complex III deficiency nuclear type 3 skos:exactMatch UMLS:C3554606 semapv:UnspecifiedMatching MONDO:0014065 mitochondrial complex III deficiency nuclear type 4 skos:exactMatch DOID:0080113 mitochondrial complex III deficiency nuclear type 4 semapv:UnspecifiedMatching MONDO:0014065 mitochondrial complex III deficiency nuclear type 4 skos:exactMatch MEDGEN:767521 semapv:UnspecifiedMatching MONDO:0014065 mitochondrial complex III deficiency nuclear type 4 skos:exactMatch OMIM:615159 mitochondrial complex 3 deficiency, nuclear type 4 semapv:UnspecifiedMatching MONDO:0014065 mitochondrial complex III deficiency nuclear type 4 skos:exactMatch UMLS:C3554607 semapv:UnspecifiedMatching MONDO:0014066 mitochondrial complex III deficiency nuclear type 5 skos:exactMatch DOID:0080114 mitochondrial complex III deficiency nuclear type 5 semapv:UnspecifiedMatching MONDO:0014066 mitochondrial complex III deficiency nuclear type 5 skos:exactMatch MEDGEN:767522 semapv:UnspecifiedMatching MONDO:0014066 mitochondrial complex III deficiency nuclear type 5 skos:exactMatch OMIM:615160 mitochondrial complex 3 deficiency, nuclear type 5 semapv:UnspecifiedMatching MONDO:0014066 mitochondrial complex III deficiency nuclear type 5 skos:exactMatch UMLS:C3554608 semapv:UnspecifiedMatching MONDO:0014067 short ulna-dysmorphism-hypotonia-intellectual disability syndrome skos:exactMatch DOID:0081201 autosomal recessive intellectual developmental disorder 35 semapv:UnspecifiedMatching MONDO:0014067 short ulna-dysmorphism-hypotonia-intellectual disability syndrome skos:exactMatch MEDGEN:767523 semapv:UnspecifiedMatching MONDO:0014067 short ulna-dysmorphism-hypotonia-intellectual disability syndrome skos:exactMatch OMIM:615162 intellectual developmental disorder, autosomal recessive 35 semapv:UnspecifiedMatching MONDO:0014067 short ulna-dysmorphism-hypotonia-intellectual disability syndrome skos:exactMatch Orphanet:357175 Short ulna-dysmorphism-hypotonia-intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0014067 short ulna-dysmorphism-hypotonia-intellectual disability syndrome skos:exactMatch UMLS:C3554609 semapv:UnspecifiedMatching MONDO:0014068 cone-rod dystrophy 17 skos:exactMatch DOID:0111023 cone-rod dystrophy 17 semapv:UnspecifiedMatching MONDO:0014068 cone-rod dystrophy 17 skos:exactMatch MEDGEN:767524 semapv:UnspecifiedMatching MONDO:0014068 cone-rod dystrophy 17 skos:exactMatch OMIM:615163 cone-rod dystrophy 17 semapv:UnspecifiedMatching MONDO:0014068 cone-rod dystrophy 17 skos:exactMatch UMLS:C3554610 semapv:UnspecifiedMatching MONDO:0014069 syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome skos:exactMatch MEDGEN:767525 semapv:UnspecifiedMatching MONDO:0014069 syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome skos:exactMatch OMIM:615170 wahab syndrome semapv:UnspecifiedMatching MONDO:0014069 syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome skos:exactMatch Orphanet:357332 Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome semapv:UnspecifiedMatching MONDO:0014069 syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome skos:exactMatch UMLS:C3554611 semapv:UnspecifiedMatching MONDO:0014070 oculocutaneous albinism type 7 skos:exactMatch DOID:0070100 oculocutaneous albinism type VII semapv:UnspecifiedMatching MONDO:0014070 oculocutaneous albinism type 7 skos:exactMatch MEDGEN:815116 semapv:UnspecifiedMatching MONDO:0014070 oculocutaneous albinism type 7 skos:exactMatch OMIM:615179 albinism, oculocutaneous, type 7 semapv:UnspecifiedMatching MONDO:0014070 oculocutaneous albinism type 7 skos:exactMatch Orphanet:352745 Oculocutaneous albinism type 7 semapv:UnspecifiedMatching MONDO:0014070 oculocutaneous albinism type 7 skos:exactMatch SCTID:722059002 semapv:UnspecifiedMatching MONDO:0014070 oculocutaneous albinism type 7 skos:exactMatch UMLS:C3808786 semapv:UnspecifiedMatching MONDO:0014071 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 skos:exactMatch DOID:0111230 congenital muscular dystrophy-dystroglycanopathy type A11 semapv:UnspecifiedMatching MONDO:0014071 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 skos:exactMatch MEDGEN:767552 semapv:UnspecifiedMatching MONDO:0014071 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 skos:exactMatch OMIM:615181 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 semapv:UnspecifiedMatching MONDO:0014071 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 skos:exactMatch UMLS:C3554638 semapv:UnspecifiedMatching MONDO:0014072 D,L-2-hydroxyglutaric aciduria skos:exactMatch DOID:0111619 combined D-2- and L-2-hydroxyglutaric aciduria semapv:UnspecifiedMatching MONDO:0014072 D,L-2-hydroxyglutaric aciduria skos:exactMatch MEDGEN:1802316 semapv:UnspecifiedMatching MONDO:0014072 D,L-2-hydroxyglutaric aciduria skos:exactMatch OMIM:615182 combined d-2- and l-2-hydroxyglutaric aciduria semapv:UnspecifiedMatching MONDO:0014072 D,L-2-hydroxyglutaric aciduria skos:exactMatch Orphanet:356978 D,L-2-hydroxyglutaric aciduria semapv:UnspecifiedMatching MONDO:0014072 D,L-2-hydroxyglutaric aciduria skos:exactMatch SCTID:713401006 semapv:UnspecifiedMatching MONDO:0014072 D,L-2-hydroxyglutaric aciduria skos:exactMatch UMLS:C5574940 semapv:UnspecifiedMatching MONDO:0014073 dilated cardiomyopathy 1II skos:exactMatch DOID:0110450 dilated cardiomyopathy 1II semapv:UnspecifiedMatching MONDO:0014073 dilated cardiomyopathy 1II skos:exactMatch MEDGEN:767563 semapv:UnspecifiedMatching MONDO:0014073 dilated cardiomyopathy 1II skos:exactMatch OMIM:615184 cardiomyopathy, dilated, 1ii semapv:UnspecifiedMatching MONDO:0014073 dilated cardiomyopathy 1II skos:exactMatch UMLS:C3554649 semapv:UnspecifiedMatching MONDO:0014074 Charcot-Marie-Tooth disease dominant intermediate F skos:exactMatch DOID:0110206 Charcot-Marie-Tooth disease dominant intermediate F semapv:UnspecifiedMatching MONDO:0014074 Charcot-Marie-Tooth disease dominant intermediate F skos:exactMatch MEDGEN:1666273 semapv:UnspecifiedMatching MONDO:0014074 Charcot-Marie-Tooth disease dominant intermediate F skos:exactMatch OMIM:615185 charcot-marie-tooth disease, dominant intermediate f semapv:UnspecifiedMatching MONDO:0014074 Charcot-Marie-Tooth disease dominant intermediate F skos:exactMatch Orphanet:352670 Autosomal dominant intermediate Charcot-Marie-Tooth disease type F semapv:UnspecifiedMatching MONDO:0014074 Charcot-Marie-Tooth disease dominant intermediate F skos:exactMatch UMLS:C4749463 semapv:UnspecifiedMatching MONDO:0014075 cataract 39 multiple types skos:exactMatch DOID:0110236 cataract 39 multiple types semapv:UnspecifiedMatching MONDO:0014075 cataract 39 multiple types skos:exactMatch MEDGEN:815130 semapv:UnspecifiedMatching MONDO:0014075 cataract 39 multiple types skos:exactMatch OMIM:615188 cataract 39, multiple types semapv:UnspecifiedMatching MONDO:0014075 cataract 39 multiple types skos:exactMatch UMLS:C3808800 semapv:UnspecifiedMatching MONDO:0014076 dyskeratosis congenita, autosomal recessive 5 skos:exactMatch DOID:0070022 autosomal recessive dyskeratosis congenita 5 semapv:UnspecifiedMatching MONDO:0014076 dyskeratosis congenita, autosomal recessive 5 skos:exactMatch MEDGEN:767570 semapv:UnspecifiedMatching MONDO:0014076 dyskeratosis congenita, autosomal recessive 5 skos:exactMatch NCIT:C176928 Dyskeratosis Congenita, Autosomal Recessive 5 semapv:UnspecifiedMatching MONDO:0014076 dyskeratosis congenita, autosomal recessive 5 skos:exactMatch OMIM:615190 dyskeratosis congenita, autosomal recessive 5 semapv:UnspecifiedMatching MONDO:0014076 dyskeratosis congenita, autosomal recessive 5 skos:exactMatch UMLS:C3554656 semapv:UnspecifiedMatching MONDO:0014077 cobblestone lissencephaly without muscular or ocular involvement skos:exactMatch DOID:0112230 lissencephaly 5 semapv:UnspecifiedMatching MONDO:0014077 cobblestone lissencephaly without muscular or ocular involvement skos:exactMatch MEDGEN:767571 semapv:UnspecifiedMatching MONDO:0014077 cobblestone lissencephaly without muscular or ocular involvement skos:exactMatch OMIM:615191 leukoencephalopathy with variable cortical brain malformations and/or hydrocephalus semapv:UnspecifiedMatching MONDO:0014077 cobblestone lissencephaly without muscular or ocular involvement skos:exactMatch Orphanet:352682 Cobblestone lissencephaly without muscular or ocular involvement semapv:UnspecifiedMatching MONDO:0014077 cobblestone lissencephaly without muscular or ocular involvement skos:exactMatch UMLS:C3554657 semapv:UnspecifiedMatching MONDO:0014078 platelet-type bleeding disorder 15 skos:exactMatch DOID:0111053 platelet-type bleeding disorder 15 semapv:UnspecifiedMatching MONDO:0014078 platelet-type bleeding disorder 15 skos:exactMatch MEDGEN:767577 semapv:UnspecifiedMatching MONDO:0014078 platelet-type bleeding disorder 15 skos:exactMatch OMIM:615193 bleeding disorder, platelet-type, 15 semapv:UnspecifiedMatching MONDO:0014078 platelet-type bleeding disorder 15 skos:exactMatch UMLS:C3554663 semapv:UnspecifiedMatching MONDO:0014079 restless legs syndrome, susceptibility to, 8 skos:exactMatch MEDGEN:767578 semapv:UnspecifiedMatching MONDO:0014079 restless legs syndrome, susceptibility to, 8 skos:exactMatch OMIM:615197 restless legs syndrome, susceptibility to, 8 semapv:UnspecifiedMatching MONDO:0014079 restless legs syndrome, susceptibility to, 8 skos:exactMatch UMLS:C3554664 semapv:UnspecifiedMatching MONDO:0014080 osteosclerotic metaphyseal dysplasia skos:exactMatch DOID:0081111 osteosclerotic metaphyseal dysplasia semapv:UnspecifiedMatching MONDO:0014080 osteosclerotic metaphyseal dysplasia skos:exactMatch MEDGEN:767579 semapv:UnspecifiedMatching MONDO:0014080 osteosclerotic metaphyseal dysplasia skos:exactMatch OMIM:615198 osteosclerotic metaphyseal dysplasia semapv:UnspecifiedMatching MONDO:0014080 osteosclerotic metaphyseal dysplasia skos:exactMatch Orphanet:500548 Osteosclerotic metaphyseal dysplasia semapv:UnspecifiedMatching MONDO:0014080 osteosclerotic metaphyseal dysplasia skos:exactMatch UMLS:C3554665 semapv:UnspecifiedMatching MONDO:0014081 severe combined immunodeficiency due to CARD11 deficiency skos:exactMatch DOID:0111957 immunodeficiency 11A semapv:UnspecifiedMatching MONDO:0014081 severe combined immunodeficiency due to CARD11 deficiency skos:exactMatch MEDGEN:767600 semapv:UnspecifiedMatching MONDO:0014081 severe combined immunodeficiency due to CARD11 deficiency skos:exactMatch OMIM:615206 immunodeficiency 11a semapv:UnspecifiedMatching MONDO:0014081 severe combined immunodeficiency due to CARD11 deficiency skos:exactMatch Orphanet:357237 Combined immunodeficiency due to CARD11 deficiency semapv:UnspecifiedMatching MONDO:0014081 severe combined immunodeficiency due to CARD11 deficiency skos:exactMatch UMLS:C3554686 semapv:UnspecifiedMatching MONDO:0014082 cryptosporidiosis-chronic cholangitis-liver disease syndrome skos:exactMatch DOID:0111982 immunodeficiency 56 semapv:UnspecifiedMatching MONDO:0014082 cryptosporidiosis-chronic cholangitis-liver disease syndrome skos:exactMatch MEDGEN:767601 semapv:UnspecifiedMatching MONDO:0014082 cryptosporidiosis-chronic cholangitis-liver disease syndrome skos:exactMatch OMIM:615207 immunodeficiency 56 semapv:UnspecifiedMatching MONDO:0014082 cryptosporidiosis-chronic cholangitis-liver disease syndrome skos:exactMatch Orphanet:357329 Combined immunodeficiency due to IL21R deficiency semapv:UnspecifiedMatching MONDO:0014082 cryptosporidiosis-chronic cholangitis-liver disease syndrome skos:exactMatch UMLS:C3554687 semapv:UnspecifiedMatching MONDO:0014083 agammaglobulinemia 7, autosomal recessive skos:exactMatch DOID:0081139 agammaglobulinemia 7 semapv:UnspecifiedMatching MONDO:0014083 agammaglobulinemia 7, autosomal recessive skos:exactMatch MEDGEN:767603 semapv:UnspecifiedMatching MONDO:0014083 agammaglobulinemia 7, autosomal recessive skos:exactMatch OMIM:615214 agammaglobulinemia 7, autosomal recessive semapv:UnspecifiedMatching MONDO:0014083 agammaglobulinemia 7, autosomal recessive skos:exactMatch UMLS:C3554689 semapv:UnspecifiedMatching MONDO:0014084 ataxia with oculomotor apraxia type 3 skos:exactMatch DOID:0060557 ataxia-oculomotor apraxia 3 semapv:UnspecifiedMatching MONDO:0014084 ataxia with oculomotor apraxia type 3 skos:exactMatch MEDGEN:767604 semapv:UnspecifiedMatching MONDO:0014084 ataxia with oculomotor apraxia type 3 skos:exactMatch OMIM:615217 ataxia-oculomotor apraxia 3 semapv:UnspecifiedMatching MONDO:0014084 ataxia with oculomotor apraxia type 3 skos:exactMatch UMLS:C3554690 semapv:UnspecifiedMatching MONDO:0014085 hydrocephalus, nonsyndromic, autosomal recessive 2 skos:exactMatch MEDGEN:767605 semapv:UnspecifiedMatching MONDO:0014085 hydrocephalus, nonsyndromic, autosomal recessive 2 skos:exactMatch OMIM:615219 hydrocephalus, congenital, 2, with or without brain or eye anomalies semapv:UnspecifiedMatching MONDO:0014085 hydrocephalus, nonsyndromic, autosomal recessive 2 skos:exactMatch UMLS:C3554691 semapv:UnspecifiedMatching MONDO:0014086 osteogenesis imperfecta type 15 skos:exactMatch DOID:0110347 osteogenesis imperfecta type 15 semapv:UnspecifiedMatching MONDO:0014086 osteogenesis imperfecta type 15 skos:exactMatch MEDGEN:815174 semapv:UnspecifiedMatching MONDO:0014086 osteogenesis imperfecta type 15 skos:exactMatch OMIM:615220 osteogenesis imperfecta, type 15 semapv:UnspecifiedMatching MONDO:0014086 osteogenesis imperfecta type 15 skos:exactMatch UMLS:C3808844 semapv:UnspecifiedMatching MONDO:0014087 Smith-McCort dysplasia 2 skos:exactMatch DOID:0081271 Smith-McCort dysplasia 2 semapv:UnspecifiedMatching MONDO:0014087 Smith-McCort dysplasia 2 skos:exactMatch MEDGEN:811489 semapv:UnspecifiedMatching MONDO:0014087 Smith-McCort dysplasia 2 skos:exactMatch OMIM:615222 smith-mccort dysplasia 2 semapv:UnspecifiedMatching MONDO:0014087 Smith-McCort dysplasia 2 skos:exactMatch UMLS:C3714896 semapv:UnspecifiedMatching MONDO:0014088 advanced sleep phase syndrome 2 skos:exactMatch DOID:0110012 advanced sleep phase syndrome 2 semapv:UnspecifiedMatching MONDO:0014088 advanced sleep phase syndrome 2 skos:exactMatch MEDGEN:815204 semapv:UnspecifiedMatching MONDO:0014088 advanced sleep phase syndrome 2 skos:exactMatch OMIM:615224 advanced sleep phase syndrome, familial, 2 semapv:UnspecifiedMatching MONDO:0014088 advanced sleep phase syndrome 2 skos:exactMatch UMLS:C3808874 semapv:UnspecifiedMatching MONDO:0014089 corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome skos:exactMatch MEDGEN:815206 semapv:UnspecifiedMatching MONDO:0014089 corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome skos:exactMatch OMIM:615225 palmoplantar carcinoma, multiple self-healing semapv:UnspecifiedMatching MONDO:0014089 corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome skos:exactMatch Orphanet:352662 Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome semapv:UnspecifiedMatching MONDO:0014089 corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome skos:exactMatch UMLS:C3808876 semapv:UnspecifiedMatching MONDO:0014090 polydactyly, postaxial, type A6 skos:exactMatch MEDGEN:815219 semapv:UnspecifiedMatching MONDO:0014090 polydactyly, postaxial, type A6 skos:exactMatch OMIM:615226 polydactyly, postaxial, type a6 semapv:UnspecifiedMatching MONDO:0014090 polydactyly, postaxial, type A6 skos:exactMatch UMLS:C3808889 semapv:UnspecifiedMatching MONDO:0014091 mitochondrial complex V (ATP synthase) deficiency, nuclear type 4B skos:exactMatch DOID:0070462 mitochondrial complex V (ATP synthase) deficiency nuclear type 4B semapv:UnspecifiedMatching MONDO:0014091 mitochondrial complex V (ATP synthase) deficiency, nuclear type 4B skos:exactMatch MEDGEN:815229 semapv:UnspecifiedMatching MONDO:0014091 mitochondrial complex V (ATP synthase) deficiency, nuclear type 4B skos:exactMatch OMIM:615228 mitochondrial complex 5 (atp synthase) deficiency, nuclear type 4b semapv:UnspecifiedMatching MONDO:0014091 mitochondrial complex V (ATP synthase) deficiency, nuclear type 4B skos:exactMatch UMLS:C3808899 semapv:UnspecifiedMatching MONDO:0014092 schizophrenia 18 skos:exactMatch DOID:0070093 schizophrenia 18 semapv:UnspecifiedMatching MONDO:0014092 schizophrenia 18 skos:exactMatch MEDGEN:815243 semapv:UnspecifiedMatching MONDO:0014092 schizophrenia 18 skos:exactMatch OMIM:615232 schizophrenia 18 semapv:UnspecifiedMatching MONDO:0014092 schizophrenia 18 skos:exactMatch UMLS:C3808913 semapv:UnspecifiedMatching MONDO:0014093 retinitis pigmentosa 66 skos:exactMatch DOID:0110393 retinitis pigmentosa 66 semapv:UnspecifiedMatching MONDO:0014093 retinitis pigmentosa 66 skos:exactMatch MEDGEN:811638 semapv:UnspecifiedMatching MONDO:0014093 retinitis pigmentosa 66 skos:exactMatch OMIM:615233 retinitis pigmentosa 66 semapv:UnspecifiedMatching MONDO:0014093 retinitis pigmentosa 66 skos:exactMatch UMLS:C3715216 semapv:UnspecifiedMatching MONDO:0014094 severe congenital hypochromic anemia with ringed sideroblasts skos:exactMatch MEDGEN:815250 semapv:UnspecifiedMatching MONDO:0014094 severe congenital hypochromic anemia with ringed sideroblasts skos:exactMatch OMIM:615234 anemia, hypochromic microcytic, with iron overload 2 semapv:UnspecifiedMatching MONDO:0014094 severe congenital hypochromic anemia with ringed sideroblasts skos:exactMatch Orphanet:300298 Severe congenital hypochromic anemia with ringed sideroblasts semapv:UnspecifiedMatching MONDO:0014094 severe congenital hypochromic anemia with ringed sideroblasts skos:exactMatch SCTID:725463007 semapv:UnspecifiedMatching MONDO:0014094 severe congenital hypochromic anemia with ringed sideroblasts skos:exactMatch UMLS:C3808920 semapv:UnspecifiedMatching MONDO:0014095 dilated cardiomyopathy 1JJ skos:exactMatch DOID:0110438 dilated cardiomyopathy 1JJ semapv:UnspecifiedMatching MONDO:0014095 dilated cardiomyopathy 1JJ skos:exactMatch MEDGEN:815265 semapv:UnspecifiedMatching MONDO:0014095 dilated cardiomyopathy 1JJ skos:exactMatch OMIM:615235 cardiomyopathy, dilated, 1jj semapv:UnspecifiedMatching MONDO:0014095 dilated cardiomyopathy 1JJ skos:exactMatch UMLS:C3808935 semapv:UnspecifiedMatching MONDO:0014096 microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome skos:exactMatch MEDGEN:490089 semapv:UnspecifiedMatching MONDO:0014096 microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome skos:exactMatch OMIM:615236 woods syndrome semapv:UnspecifiedMatching MONDO:0014096 microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome skos:exactMatch SCTID:719396000 semapv:UnspecifiedMatching MONDO:0014096 microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome skos:exactMatch UMLS:C0796203 semapv:UnspecifiedMatching MONDO:0014097 congenital short bowel syndrome skos:exactMatch MEDGEN:1784105 semapv:UnspecifiedMatching MONDO:0014097 congenital short bowel syndrome skos:exactMatch Orphanet:2301 Congenital short bowel syndrome semapv:UnspecifiedMatching MONDO:0014097 congenital short bowel syndrome skos:exactMatch SCTID:715201005 semapv:UnspecifiedMatching MONDO:0014097 congenital short bowel syndrome skos:exactMatch UMLS:C5441717 semapv:UnspecifiedMatching MONDO:0014097 congenital short bowel syndrome skos:exactMatch icd11.foundation:1672462112 Congenital short bowel semapv:UnspecifiedMatching MONDO:0014098 CIDEC-related familial partial lipodystrophy skos:exactMatch DOID:0070203 familial partial lipodystrophy type 5 semapv:UnspecifiedMatching MONDO:0014098 CIDEC-related familial partial lipodystrophy skos:exactMatch MEDGEN:815270 semapv:UnspecifiedMatching MONDO:0014098 CIDEC-related familial partial lipodystrophy skos:exactMatch OMIM:615238 lipodystrophy, familial partial, type 5 semapv:UnspecifiedMatching MONDO:0014098 CIDEC-related familial partial lipodystrophy skos:exactMatch Orphanet:435651 CIDEC-related familial partial lipodystrophy semapv:UnspecifiedMatching MONDO:0014098 CIDEC-related familial partial lipodystrophy skos:exactMatch UMLS:C3808940 semapv:UnspecifiedMatching MONDO:0014099 nephrotic syndrome, type 8 skos:exactMatch DOID:0080389 nephrotic syndrome type 8 semapv:UnspecifiedMatching MONDO:0014099 nephrotic syndrome, type 8 skos:exactMatch MEDGEN:815283 semapv:UnspecifiedMatching MONDO:0014099 nephrotic syndrome, type 8 skos:exactMatch OMIM:615244 nephrotic syndrome, type 8 semapv:UnspecifiedMatching MONDO:0014099 nephrotic syndrome, type 8 skos:exactMatch UMLS:C3808953 semapv:UnspecifiedMatching MONDO:0014100 dilated cardiomyopathy 1KK skos:exactMatch DOID:0110445 dilated cardiomyopathy 1KK semapv:UnspecifiedMatching MONDO:0014100 dilated cardiomyopathy 1KK skos:exactMatch MEDGEN:811544 semapv:UnspecifiedMatching MONDO:0014100 dilated cardiomyopathy 1KK skos:exactMatch OMIM:615248 cardiomyopathy, dilated, 1kk semapv:UnspecifiedMatching MONDO:0014100 dilated cardiomyopathy 1KK skos:exactMatch UMLS:C3714995 semapv:UnspecifiedMatching MONDO:0014101 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 skos:exactMatch DOID:0111235 congenital muscular dystrophy-dystroglycanopathy type A12 semapv:UnspecifiedMatching MONDO:0014101 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 skos:exactMatch MEDGEN:815294 semapv:UnspecifiedMatching MONDO:0014101 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 skos:exactMatch OMIM:615249 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 semapv:UnspecifiedMatching MONDO:0014101 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 skos:exactMatch UMLS:C3808964 semapv:UnspecifiedMatching MONDO:0014102 hypogonadotropic hypogonadism 17 with or without anosmia skos:exactMatch DOID:0090079 hypogonadotropic hypogonadism 17 with or without anosmia semapv:UnspecifiedMatching MONDO:0014102 hypogonadotropic hypogonadism 17 with or without anosmia skos:exactMatch MEDGEN:815301 semapv:UnspecifiedMatching MONDO:0014102 hypogonadotropic hypogonadism 17 with or without anosmia skos:exactMatch OMIM:615266 hypogonadotropic hypogonadism 17 with or without anosmia semapv:UnspecifiedMatching MONDO:0014102 hypogonadotropic hypogonadism 17 with or without anosmia skos:exactMatch UMLS:C3808971 semapv:UnspecifiedMatching MONDO:0014103 hypogonadotropic hypogonadism 18 with or without anosmia skos:exactMatch DOID:0090076 hypogonadotropic hypogonadism 18 with or without anosmia semapv:UnspecifiedMatching MONDO:0014103 hypogonadotropic hypogonadism 18 with or without anosmia skos:exactMatch MEDGEN:815305 semapv:UnspecifiedMatching MONDO:0014103 hypogonadotropic hypogonadism 18 with or without anosmia skos:exactMatch OMIM:615267 hypogonadotropic hypogonadism 18 with or without anosmia semapv:UnspecifiedMatching MONDO:0014103 hypogonadotropic hypogonadism 18 with or without anosmia skos:exactMatch UMLS:C3808975 semapv:UnspecifiedMatching MONDO:0014104 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 skos:exactMatch DOID:0070559 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4 semapv:UnspecifiedMatching MONDO:0014104 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 skos:exactMatch MEDGEN:815307 semapv:UnspecifiedMatching MONDO:0014104 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 skos:exactMatch OMIM:615268 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4 semapv:UnspecifiedMatching MONDO:0014104 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 skos:exactMatch UMLS:C3808977 semapv:UnspecifiedMatching MONDO:0014105 hypogonadotropic hypogonadism 19 with or without anosmia skos:exactMatch DOID:0090090 hypogonadotropic hypogonadism 19 with or without anosmia semapv:UnspecifiedMatching MONDO:0014105 hypogonadotropic hypogonadism 19 with or without anosmia skos:exactMatch MEDGEN:815311 semapv:UnspecifiedMatching MONDO:0014105 hypogonadotropic hypogonadism 19 with or without anosmia skos:exactMatch OMIM:615269 hypogonadotropic hypogonadism 19 with or without anosmia semapv:UnspecifiedMatching MONDO:0014105 hypogonadotropic hypogonadism 19 with or without anosmia skos:exactMatch UMLS:C3808981 semapv:UnspecifiedMatching MONDO:0014106 hypogonadotropic hypogonadism 20 with or without anosmia skos:exactMatch DOID:0090082 hypogonadotropic hypogonadism 20 with or without anosmia semapv:UnspecifiedMatching MONDO:0014106 hypogonadotropic hypogonadism 20 with or without anosmia skos:exactMatch MEDGEN:815313 semapv:UnspecifiedMatching MONDO:0014106 hypogonadotropic hypogonadism 20 with or without anosmia skos:exactMatch OMIM:615270 hypogonadotropic hypogonadism 20 with or without anosmia semapv:UnspecifiedMatching MONDO:0014106 hypogonadotropic hypogonadism 20 with or without anosmia skos:exactMatch UMLS:C3808983 semapv:UnspecifiedMatching MONDO:0014107 hypogonadotropic hypogonadism 21 with or without anosmia skos:exactMatch DOID:0090093 hypogonadotropic hypogonadism 21 with or without anosmia semapv:UnspecifiedMatching MONDO:0014107 hypogonadotropic hypogonadism 21 with or without anosmia skos:exactMatch MEDGEN:815316 semapv:UnspecifiedMatching MONDO:0014107 hypogonadotropic hypogonadism 21 with or without anosmia skos:exactMatch OMIM:615271 hypogonadotropic hypogonadism 21 with or without anosmia semapv:UnspecifiedMatching MONDO:0014107 hypogonadotropic hypogonadism 21 with or without anosmia skos:exactMatch UMLS:C3808986 semapv:UnspecifiedMatching MONDO:0014108 Fanconi anemia complementation group Q skos:exactMatch DOID:0111093 Fanconi anemia complementation group Q semapv:UnspecifiedMatching MONDO:0014108 Fanconi anemia complementation group Q skos:exactMatch MEDGEN:815318 semapv:UnspecifiedMatching MONDO:0014108 Fanconi anemia complementation group Q skos:exactMatch OMIM:615272 fanconi anemia, complementation group q semapv:UnspecifiedMatching MONDO:0014108 Fanconi anemia complementation group Q skos:exactMatch UMLS:C3808988 semapv:UnspecifiedMatching MONDO:0014110 cataract 15 multiple types skos:exactMatch DOID:0110251 cataract 15 multiple types semapv:UnspecifiedMatching MONDO:0014110 cataract 15 multiple types skos:exactMatch MEDGEN:815331 semapv:UnspecifiedMatching MONDO:0014110 cataract 15 multiple types skos:exactMatch OMIM:615274 cataract 15, multiple types semapv:UnspecifiedMatching MONDO:0014110 cataract 15 multiple types skos:exactMatch UMLS:C3809001 semapv:UnspecifiedMatching MONDO:0014111 cataract 19 multiple types skos:exactMatch DOID:0110263 cataract 19 multiple types semapv:UnspecifiedMatching MONDO:0014111 cataract 19 multiple types skos:exactMatch MEDGEN:815334 semapv:UnspecifiedMatching MONDO:0014111 cataract 19 multiple types skos:exactMatch OMIM:615277 cataract 19, multiple types semapv:UnspecifiedMatching MONDO:0014111 cataract 19 multiple types skos:exactMatch UMLS:C3809004 semapv:UnspecifiedMatching MONDO:0014112 cardiofaciocutaneous syndrome 2 skos:exactMatch DOID:0111461 cardiofaciocutaneous syndrome 2 semapv:UnspecifiedMatching MONDO:0014112 cardiofaciocutaneous syndrome 2 skos:exactMatch MEDGEN:815335 semapv:UnspecifiedMatching MONDO:0014112 cardiofaciocutaneous syndrome 2 skos:exactMatch OMIM:615278 cardiofaciocutaneous syndrome 2 semapv:UnspecifiedMatching MONDO:0014112 cardiofaciocutaneous syndrome 2 skos:exactMatch UMLS:C3809005 semapv:UnspecifiedMatching MONDO:0014113 cardiofaciocutaneous syndrome 3 skos:exactMatch DOID:0111462 cardiofaciocutaneous syndrome 3 semapv:UnspecifiedMatching MONDO:0014113 cardiofaciocutaneous syndrome 3 skos:exactMatch MEDGEN:815336 semapv:UnspecifiedMatching MONDO:0014113 cardiofaciocutaneous syndrome 3 skos:exactMatch OMIM:615279 cardiofaciocutaneous syndrome 3 semapv:UnspecifiedMatching MONDO:0014113 cardiofaciocutaneous syndrome 3 skos:exactMatch UMLS:C3809006 semapv:UnspecifiedMatching MONDO:0014114 cardiofaciocutaneous syndrome 4 skos:exactMatch DOID:0111463 cardiofaciocutaneous syndrome 4 semapv:UnspecifiedMatching MONDO:0014114 cardiofaciocutaneous syndrome 4 skos:exactMatch MEDGEN:815337 semapv:UnspecifiedMatching MONDO:0014114 cardiofaciocutaneous syndrome 4 skos:exactMatch OMIM:615280 cardiofaciocutaneous syndrome 4 semapv:UnspecifiedMatching MONDO:0014114 cardiofaciocutaneous syndrome 4 skos:exactMatch UMLS:C3809007 semapv:UnspecifiedMatching MONDO:0014115 hypomyelination with brain stem and spinal cord involvement and leg spasticity skos:exactMatch MEDGEN:1667792 semapv:UnspecifiedMatching MONDO:0014115 hypomyelination with brain stem and spinal cord involvement and leg spasticity skos:exactMatch OMIM:615281 hypomyelination with brainstem and spinal cord involvement and leg spasticity semapv:UnspecifiedMatching MONDO:0014115 hypomyelination with brain stem and spinal cord involvement and leg spasticity skos:exactMatch Orphanet:363412 Hypomyelination with brain stem and spinal cord involvement and leg spasticity semapv:UnspecifiedMatching MONDO:0014115 hypomyelination with brain stem and spinal cord involvement and leg spasticity skos:exactMatch UMLS:C4755254 semapv:UnspecifiedMatching MONDO:0014116 complex cortical dysplasia with other brain malformations 2 skos:exactMatch DOID:0090133 complex cortical dysplasia with other brain malformations 2 semapv:UnspecifiedMatching MONDO:0014116 complex cortical dysplasia with other brain malformations 2 skos:exactMatch MEDGEN:815343 semapv:UnspecifiedMatching MONDO:0014116 complex cortical dysplasia with other brain malformations 2 skos:exactMatch OMIM:615282 cortical dysplasia, complex, with other brain malformations 2 semapv:UnspecifiedMatching MONDO:0014116 complex cortical dysplasia with other brain malformations 2 skos:exactMatch UMLS:C3809013 semapv:UnspecifiedMatching MONDO:0014117 Charcot-Marie-Tooth disease type 4B3 skos:exactMatch DOID:0110194 Charcot-Marie-Tooth disease type 4B3 semapv:UnspecifiedMatching MONDO:0014117 Charcot-Marie-Tooth disease type 4B3 skos:exactMatch MEDGEN:811329 semapv:UnspecifiedMatching MONDO:0014117 Charcot-Marie-Tooth disease type 4B3 skos:exactMatch OMIM:615284 charcot-marie-tooth disease, demyelinating, type 4b3 semapv:UnspecifiedMatching MONDO:0014117 Charcot-Marie-Tooth disease type 4B3 skos:exactMatch Orphanet:363981 Charcot-Marie-Tooth disease type 4B3 semapv:UnspecifiedMatching MONDO:0014117 Charcot-Marie-Tooth disease type 4B3 skos:exactMatch SCTID:763345008 semapv:UnspecifiedMatching MONDO:0014117 Charcot-Marie-Tooth disease type 4B3 skos:exactMatch UMLS:C3695063 semapv:UnspecifiedMatching MONDO:0014118 congenital neutropenia-myelofibrosis-nephromegaly syndrome skos:exactMatch DOID:0112132 severe congenital neutropenia 5 semapv:UnspecifiedMatching MONDO:0014118 congenital neutropenia-myelofibrosis-nephromegaly syndrome skos:exactMatch MEDGEN:815361 semapv:UnspecifiedMatching MONDO:0014118 congenital neutropenia-myelofibrosis-nephromegaly syndrome skos:exactMatch OMIM:615285 neutropenia, severe congenital, 5, autosomal recessive semapv:UnspecifiedMatching MONDO:0014118 congenital neutropenia-myelofibrosis-nephromegaly syndrome skos:exactMatch Orphanet:369852 Congenital neutropenia-myelofibrosis-nephromegaly syndrome semapv:UnspecifiedMatching MONDO:0014118 congenital neutropenia-myelofibrosis-nephromegaly syndrome skos:exactMatch UMLS:C3809031 semapv:UnspecifiedMatching MONDO:0014119 intellectual disability-strabismus syndrome skos:exactMatch DOID:0081099 neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies semapv:UnspecifiedMatching MONDO:0014119 intellectual disability-strabismus syndrome skos:exactMatch MEDGEN:1665943 semapv:UnspecifiedMatching MONDO:0014119 intellectual disability-strabismus syndrome skos:exactMatch OMIM:615286 neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies semapv:UnspecifiedMatching MONDO:0014119 intellectual disability-strabismus syndrome skos:exactMatch Orphanet:363528 Intellectual disability-strabismus syndrome semapv:UnspecifiedMatching MONDO:0014119 intellectual disability-strabismus syndrome skos:exactMatch UMLS:C4750838 semapv:UnspecifiedMatching MONDO:0014120 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 skos:exactMatch DOID:0111238 congenital muscular dystrophy-dystroglycanopathy type A13 semapv:UnspecifiedMatching MONDO:0014120 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 skos:exactMatch MEDGEN:815372 semapv:UnspecifiedMatching MONDO:0014120 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 skos:exactMatch OMIM:615287 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13 semapv:UnspecifiedMatching MONDO:0014120 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 skos:exactMatch UMLS:C3809042 semapv:UnspecifiedMatching MONDO:0014121 autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures skos:exactMatch DOID:0070349 spinal muscular atrophy with lower extremity predominant 2A semapv:UnspecifiedMatching MONDO:0014121 autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures skos:exactMatch MEDGEN:1669929 semapv:UnspecifiedMatching MONDO:0014121 autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures skos:exactMatch OMIM:615290 spinal muscular atrophy, lower extremity-predominant, 2a, childhood onset, autosomal dominant semapv:UnspecifiedMatching MONDO:0014121 autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures skos:exactMatch Orphanet:363454 BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy semapv:UnspecifiedMatching MONDO:0014121 autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures skos:exactMatch UMLS:C4747715 semapv:UnspecifiedMatching MONDO:0014122 myofibromatosis, infantile, 2 skos:exactMatch DOID:0070667 infantile myofibromatosis 2 semapv:UnspecifiedMatching MONDO:0014122 myofibromatosis, infantile, 2 skos:exactMatch MEDGEN:815414 semapv:UnspecifiedMatching MONDO:0014122 myofibromatosis, infantile, 2 skos:exactMatch NCIT:C176944 Infantile Myofibromatosis 2 semapv:UnspecifiedMatching MONDO:0014122 myofibromatosis, infantile, 2 skos:exactMatch OMIM:615293 myofibromatosis, infantile, 2 semapv:UnspecifiedMatching MONDO:0014122 myofibromatosis, infantile, 2 skos:exactMatch UMLS:C3809084 semapv:UnspecifiedMatching MONDO:0014123 primary ciliary dyskinesia 21 skos:exactMatch DOID:0110596 primary ciliary dyskinesia 21 semapv:UnspecifiedMatching MONDO:0014123 primary ciliary dyskinesia 21 skos:exactMatch MEDGEN:815417 semapv:UnspecifiedMatching MONDO:0014123 primary ciliary dyskinesia 21 skos:exactMatch OMIM:615294 ciliary dyskinesia, primary, 21 semapv:UnspecifiedMatching MONDO:0014123 primary ciliary dyskinesia 21 skos:exactMatch UMLS:C3809087 semapv:UnspecifiedMatching MONDO:0014124 Adams-Oliver syndrome 4 skos:exactMatch MEDGEN:815422 semapv:UnspecifiedMatching MONDO:0014124 Adams-Oliver syndrome 4 skos:exactMatch OMIM:615297 adams-oliver syndrome 4 semapv:UnspecifiedMatching MONDO:0014124 Adams-Oliver syndrome 4 skos:exactMatch UMLS:C3809092 semapv:UnspecifiedMatching MONDO:0014125 symphalangism, proximal, 1B skos:exactMatch DOID:0080788 proximal symphalangism 2 semapv:UnspecifiedMatching MONDO:0014125 symphalangism, proximal, 1B skos:exactMatch MEDGEN:815434 semapv:UnspecifiedMatching MONDO:0014125 symphalangism, proximal, 1B skos:exactMatch OMIM:615298 symphalangism, proximal, 1b semapv:UnspecifiedMatching MONDO:0014125 symphalangism, proximal, 1B skos:exactMatch UMLS:C3809104 semapv:UnspecifiedMatching MONDO:0014126 Perrault syndrome 4 skos:exactMatch MEDGEN:815435 semapv:UnspecifiedMatching MONDO:0014126 Perrault syndrome 4 skos:exactMatch OMIM:615300 perrault syndrome 4 semapv:UnspecifiedMatching MONDO:0014126 Perrault syndrome 4 skos:exactMatch UMLS:C3809105 semapv:UnspecifiedMatching MONDO:0014127 oculocutaneous albinism type 5 skos:exactMatch DOID:0070099 oculocutaneous albinism type V semapv:UnspecifiedMatching MONDO:0014127 oculocutaneous albinism type 5 skos:exactMatch MEDGEN:854888 semapv:UnspecifiedMatching MONDO:0014127 oculocutaneous albinism type 5 skos:exactMatch OMIM:615312 albinism, oculocutaneous, type 5 semapv:UnspecifiedMatching MONDO:0014127 oculocutaneous albinism type 5 skos:exactMatch Orphanet:370091 Oculocutaneous albinism type 5 semapv:UnspecifiedMatching MONDO:0014127 oculocutaneous albinism type 5 skos:exactMatch SCTID:722057000 semapv:UnspecifiedMatching MONDO:0014127 oculocutaneous albinism type 5 skos:exactMatch UMLS:C3888401 semapv:UnspecifiedMatching MONDO:0014128 TCF12-related craniosynostosis skos:exactMatch DOID:0061011 craniosynostosis 3 semapv:UnspecifiedMatching MONDO:0014128 TCF12-related craniosynostosis skos:exactMatch MEDGEN:811568 semapv:UnspecifiedMatching MONDO:0014128 TCF12-related craniosynostosis skos:exactMatch OMIM:615314 craniosynostosis 3 semapv:UnspecifiedMatching MONDO:0014128 TCF12-related craniosynostosis skos:exactMatch Orphanet:672979 Craniosynostosis-facial dysmorphism-brachydactyly syndrome semapv:UnspecifiedMatching MONDO:0014128 TCF12-related craniosynostosis skos:exactMatch UMLS:C3715051 semapv:UnspecifiedMatching MONDO:0014130 Dowling-Degos disease 2 skos:exactMatch MEDGEN:815477 semapv:UnspecifiedMatching MONDO:0014130 Dowling-Degos disease 2 skos:exactMatch OMIM:615327 dowling-degos disease 2 semapv:UnspecifiedMatching MONDO:0014130 Dowling-Degos disease 2 skos:exactMatch UMLS:C3809147 semapv:UnspecifiedMatching MONDO:0014131 hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome skos:exactMatch MEDGEN:815490 semapv:UnspecifiedMatching MONDO:0014131 hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome skos:exactMatch OMIM:615328 shaheen syndrome semapv:UnspecifiedMatching MONDO:0014131 hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome skos:exactMatch Orphanet:363523 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0014131 hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome skos:exactMatch UMLS:C3809160 semapv:UnspecifiedMatching MONDO:0014132 multiple mitochondrial dysfunctions syndrome 3 skos:exactMatch DOID:0080135 multiple mitochondrial dysfunctions syndrome 3 semapv:UnspecifiedMatching MONDO:0014132 multiple mitochondrial dysfunctions syndrome 3 skos:exactMatch MEDGEN:815495 semapv:UnspecifiedMatching MONDO:0014132 multiple mitochondrial dysfunctions syndrome 3 skos:exactMatch OMIM:615330 multiple mitochondrial dysfunctions syndrome 3 semapv:UnspecifiedMatching MONDO:0014132 multiple mitochondrial dysfunctions syndrome 3 skos:exactMatch Orphanet:363424 Multiple mitochondrial dysfunctions syndrome type 3 semapv:UnspecifiedMatching MONDO:0014132 multiple mitochondrial dysfunctions syndrome 3 skos:exactMatch UMLS:C3809165 semapv:UnspecifiedMatching MONDO:0014133 developmental and epileptic encephalopathy, 16 skos:exactMatch DOID:0080449 developmental and epileptic encephalopathy 16 semapv:UnspecifiedMatching MONDO:0014133 developmental and epileptic encephalopathy, 16 skos:exactMatch MEDGEN:815503 semapv:UnspecifiedMatching MONDO:0014133 developmental and epileptic encephalopathy, 16 skos:exactMatch OMIM:615338 developmental and epileptic encephalopathy 16 semapv:UnspecifiedMatching MONDO:0014133 developmental and epileptic encephalopathy, 16 skos:exactMatch UMLS:C3809173 semapv:UnspecifiedMatching MONDO:0014134 pulmonary hypertension, primary, 2 skos:exactMatch MEDGEN:854709 semapv:UnspecifiedMatching MONDO:0014134 pulmonary hypertension, primary, 2 skos:exactMatch OMIM:615342 pulmonary hypertension, primary, 2 semapv:UnspecifiedMatching MONDO:0014134 pulmonary hypertension, primary, 2 skos:exactMatch UMLS:C3888002 semapv:UnspecifiedMatching MONDO:0014135 pulmonary hypertension, primary, 3 skos:exactMatch MEDGEN:815522 semapv:UnspecifiedMatching MONDO:0014135 pulmonary hypertension, primary, 3 skos:exactMatch OMIM:615343 pulmonary hypertension, primary, 3 semapv:UnspecifiedMatching MONDO:0014135 pulmonary hypertension, primary, 3 skos:exactMatch UMLS:C3809192 semapv:UnspecifiedMatching MONDO:0014136 pulmonary hypertension, primary, 4 skos:exactMatch MEDGEN:815528 semapv:UnspecifiedMatching MONDO:0014136 pulmonary hypertension, primary, 4 skos:exactMatch OMIM:615344 pulmonary hypertension, primary, 4 semapv:UnspecifiedMatching MONDO:0014136 pulmonary hypertension, primary, 4 skos:exactMatch UMLS:C3809198 semapv:UnspecifiedMatching MONDO:0014137 precocious puberty, central, 2 skos:exactMatch DOID:0112309 central precocious puberty 2 semapv:UnspecifiedMatching MONDO:0014137 precocious puberty, central, 2 skos:exactMatch MEDGEN:815529 semapv:UnspecifiedMatching MONDO:0014137 precocious puberty, central, 2 skos:exactMatch OMIM:615346 precocious puberty, central, 2 semapv:UnspecifiedMatching MONDO:0014137 precocious puberty, central, 2 skos:exactMatch UMLS:C3809199 semapv:UnspecifiedMatching MONDO:0014138 nemaline myopathy 8 skos:exactMatch DOID:0110930 nemaline myopathy 8 semapv:UnspecifiedMatching MONDO:0014138 nemaline myopathy 8 skos:exactMatch MEDGEN:815539 semapv:UnspecifiedMatching MONDO:0014138 nemaline myopathy 8 skos:exactMatch NCIT:C129871 Nemaline Myopathy 8 semapv:UnspecifiedMatching MONDO:0014138 nemaline myopathy 8 skos:exactMatch OMIM:615348 nemaline myopathy 8 semapv:UnspecifiedMatching MONDO:0014138 nemaline myopathy 8 skos:exactMatch UMLS:C3809209 semapv:UnspecifiedMatching MONDO:0014139 Ehlers-Danlos syndrome, spondylodysplastic type, 2 skos:exactMatch MEDGEN:815540 semapv:UnspecifiedMatching MONDO:0014139 Ehlers-Danlos syndrome, spondylodysplastic type, 2 skos:exactMatch OMIM:615349 ehlers-danlos syndrome, spondylodysplastic type, 2 semapv:UnspecifiedMatching MONDO:0014139 Ehlers-Danlos syndrome, spondylodysplastic type, 2 skos:exactMatch Orphanet:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome semapv:UnspecifiedMatching MONDO:0014139 Ehlers-Danlos syndrome, spondylodysplastic type, 2 skos:exactMatch UMLS:C3809210 semapv:UnspecifiedMatching MONDO:0014140 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 skos:exactMatch DOID:0111233 congenital muscular dystrophy-dystroglycanopathy type A14 semapv:UnspecifiedMatching MONDO:0014140 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 skos:exactMatch MEDGEN:815546 semapv:UnspecifiedMatching MONDO:0014140 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 skos:exactMatch OMIM:615350 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 semapv:UnspecifiedMatching MONDO:0014140 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 skos:exactMatch UMLS:C3809216 semapv:UnspecifiedMatching MONDO:0014141 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 skos:exactMatch DOID:0112377 muscular dystrophy-dystroglycanopathy type B14 semapv:UnspecifiedMatching MONDO:0014141 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 skos:exactMatch MEDGEN:815551 semapv:UnspecifiedMatching MONDO:0014141 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 skos:exactMatch OMIM:615351 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 14 semapv:UnspecifiedMatching MONDO:0014141 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 skos:exactMatch UMLS:C3809221 semapv:UnspecifiedMatching MONDO:0014142 autosomal recessive limb-girdle muscular dystrophy type 2T skos:exactMatch DOID:0110294 autosomal recessive limb-girdle muscular dystrophy type 2T semapv:UnspecifiedMatching MONDO:0014142 autosomal recessive limb-girdle muscular dystrophy type 2T skos:exactMatch MEDGEN:1377325 semapv:UnspecifiedMatching MONDO:0014142 autosomal recessive limb-girdle muscular dystrophy type 2T skos:exactMatch OMIM:615352 muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14 semapv:UnspecifiedMatching MONDO:0014142 autosomal recessive limb-girdle muscular dystrophy type 2T skos:exactMatch Orphanet:363623 GMPPB-related limb-girdle muscular dystrophy R19 semapv:UnspecifiedMatching MONDO:0014142 autosomal recessive limb-girdle muscular dystrophy type 2T skos:exactMatch UMLS:C4518000 semapv:UnspecifiedMatching MONDO:0014143 Noonan syndrome 8 skos:exactMatch DOID:0060586 Noonan syndrome 8 semapv:UnspecifiedMatching MONDO:0014143 Noonan syndrome 8 skos:exactMatch MEDGEN:815563 semapv:UnspecifiedMatching MONDO:0014143 Noonan syndrome 8 skos:exactMatch NCIT:C176936 Noonan Syndrome 8 semapv:UnspecifiedMatching MONDO:0014143 Noonan syndrome 8 skos:exactMatch OMIM:615355 noonan syndrome 8 semapv:UnspecifiedMatching MONDO:0014143 Noonan syndrome 8 skos:exactMatch UMLS:C3809233 semapv:UnspecifiedMatching MONDO:0014144 autosomal recessive limb-girdle muscular dystrophy type R18 skos:exactMatch DOID:0110287 autosomal recessive limb-girdle muscular dystrophy type 2S semapv:UnspecifiedMatching MONDO:0014144 autosomal recessive limb-girdle muscular dystrophy type R18 skos:exactMatch MEDGEN:1385598 semapv:UnspecifiedMatching MONDO:0014144 autosomal recessive limb-girdle muscular dystrophy type R18 skos:exactMatch OMIM:615356 muscular dystrophy, limb-girdle, autosomal recessive 18 semapv:UnspecifiedMatching MONDO:0014144 autosomal recessive limb-girdle muscular dystrophy type R18 skos:exactMatch Orphanet:369840 TRAPPC11-related limb-girdle muscular dystrophy R18 semapv:UnspecifiedMatching MONDO:0014144 autosomal recessive limb-girdle muscular dystrophy type R18 skos:exactMatch UMLS:C4517996 semapv:UnspecifiedMatching MONDO:0014145 Leber congenital amaurosis 17 skos:exactMatch DOID:0110217 Leber congenital amaurosis 17 semapv:UnspecifiedMatching MONDO:0014145 Leber congenital amaurosis 17 skos:exactMatch MEDGEN:811616 semapv:UnspecifiedMatching MONDO:0014145 Leber congenital amaurosis 17 skos:exactMatch OMIM:615360 leber congenital amaurosis 17 semapv:UnspecifiedMatching MONDO:0014145 Leber congenital amaurosis 17 skos:exactMatch UMLS:C3715164 semapv:UnspecifiedMatching MONDO:0014146 autosomal dominant hypocalcemia 2 skos:exactMatch DOID:0090108 autosomal dominant hypocalcemia 2 semapv:UnspecifiedMatching MONDO:0014146 autosomal dominant hypocalcemia 2 skos:exactMatch MEDGEN:815573 semapv:UnspecifiedMatching MONDO:0014146 autosomal dominant hypocalcemia 2 skos:exactMatch OMIM:615361 hypocalcemia, autosomal dominant 2 semapv:UnspecifiedMatching MONDO:0014146 autosomal dominant hypocalcemia 2 skos:exactMatch UMLS:C3809243 semapv:UnspecifiedMatching MONDO:0014147 neuronal ceroid lipofuscinosis 13 skos:exactMatch DOID:0110727 neuronal ceroid lipofuscinosis 13 semapv:UnspecifiedMatching MONDO:0014147 neuronal ceroid lipofuscinosis 13 skos:exactMatch MEDGEN:811566 semapv:UnspecifiedMatching MONDO:0014147 neuronal ceroid lipofuscinosis 13 skos:exactMatch OMIM:615362 ceroid lipofuscinosis, neuronal, 13 (kufs type) semapv:UnspecifiedMatching MONDO:0014147 neuronal ceroid lipofuscinosis 13 skos:exactMatch Orphanet:352709 CLN13 disease semapv:UnspecifiedMatching MONDO:0014147 neuronal ceroid lipofuscinosis 13 skos:exactMatch UMLS:C3715049 semapv:UnspecifiedMatching MONDO:0014148 estrogen resistance syndrome skos:exactMatch MEDGEN:815580 semapv:UnspecifiedMatching MONDO:0014148 estrogen resistance syndrome skos:exactMatch OMIM:615363 estrogen resistance semapv:UnspecifiedMatching MONDO:0014148 estrogen resistance syndrome skos:exactMatch Orphanet:785 Estrogen resistance syndrome semapv:UnspecifiedMatching MONDO:0014148 estrogen resistance syndrome skos:exactMatch SCTID:724555000 semapv:UnspecifiedMatching MONDO:0014148 estrogen resistance syndrome skos:exactMatch UMLS:C3809250 semapv:UnspecifiedMatching MONDO:0014148 estrogen resistance syndrome skos:exactMatch icd11.foundation:1267163286 Disorder of puberty due to oestrogen resistance semapv:UnspecifiedMatching MONDO:0014149 fetal akinesia-cerebral and retinal hemorrhage syndrome skos:exactMatch MEDGEN:1631944 semapv:UnspecifiedMatching MONDO:0014149 fetal akinesia-cerebral and retinal hemorrhage syndrome skos:exactMatch OMIM:615368 lethal congenital contracture syndrome 5 semapv:UnspecifiedMatching MONDO:0014149 fetal akinesia-cerebral and retinal hemorrhage syndrome skos:exactMatch Orphanet:363409 Fetal akinesia-cerebral and retinal hemorrhage syndrome semapv:UnspecifiedMatching MONDO:0014149 fetal akinesia-cerebral and retinal hemorrhage syndrome skos:exactMatch SCTID:763346009 semapv:UnspecifiedMatching MONDO:0014149 fetal akinesia-cerebral and retinal hemorrhage syndrome skos:exactMatch UMLS:C4706410 semapv:UnspecifiedMatching MONDO:0014150 developmental and epileptic encephalopathy 94 skos:exactMatch DOID:0081325 developmental and epileptic encephalopathy 94 semapv:UnspecifiedMatching MONDO:0014150 developmental and epileptic encephalopathy 94 skos:exactMatch MEDGEN:815608 semapv:UnspecifiedMatching MONDO:0014150 developmental and epileptic encephalopathy 94 skos:exactMatch OMIM:615369 developmental and epileptic encephalopathy 94 semapv:UnspecifiedMatching MONDO:0014150 developmental and epileptic encephalopathy 94 skos:exactMatch UMLS:C3809278 semapv:UnspecifiedMatching MONDO:0014151 pulmonary hypertension, neonatal, susceptibility to skos:exactMatch MEDGEN:811528 semapv:UnspecifiedMatching MONDO:0014151 pulmonary hypertension, neonatal, susceptibility to skos:exactMatch OMIM:615371 pulmonary hypertension, neonatal, susceptibility to semapv:UnspecifiedMatching MONDO:0014151 pulmonary hypertension, neonatal, susceptibility to skos:exactMatch UMLS:C3714958 semapv:UnspecifiedMatching MONDO:0014152 left ventricular noncompaction 8 skos:exactMatch DOID:0081157 dilated cardiomyopathy 1LL semapv:UnspecifiedMatching MONDO:0014152 left ventricular noncompaction 8 skos:exactMatch MEDGEN:815618 semapv:UnspecifiedMatching MONDO:0014152 left ventricular noncompaction 8 skos:exactMatch OMIM:615373 left ventricular noncompaction 8 semapv:UnspecifiedMatching MONDO:0014152 left ventricular noncompaction 8 skos:exactMatch UMLS:C3809288 semapv:UnspecifiedMatching MONDO:0014153 cone-rod dystrophy 18 skos:exactMatch DOID:0111024 cone-rod dystrophy 18 semapv:UnspecifiedMatching MONDO:0014153 cone-rod dystrophy 18 skos:exactMatch MEDGEN:815629 semapv:UnspecifiedMatching MONDO:0014153 cone-rod dystrophy 18 skos:exactMatch OMIM:615374 cone-rod dystrophy 18 semapv:UnspecifiedMatching MONDO:0014153 cone-rod dystrophy 18 skos:exactMatch UMLS:C3809299 semapv:UnspecifiedMatching MONDO:0014154 Charcot-Marie-Tooth disease recessive intermediate C skos:exactMatch DOID:0110198 Charcot-Marie-Tooth disease recessive intermediate C semapv:UnspecifiedMatching MONDO:0014154 Charcot-Marie-Tooth disease recessive intermediate C skos:exactMatch MEDGEN:815639 semapv:UnspecifiedMatching MONDO:0014154 Charcot-Marie-Tooth disease recessive intermediate C skos:exactMatch OMIM:615376 charcot-marie-tooth disease, recessive intermediate c semapv:UnspecifiedMatching MONDO:0014154 Charcot-Marie-Tooth disease recessive intermediate C skos:exactMatch Orphanet:369867 Autosomal recessive intermediate Charcot-Marie-Tooth disease type C semapv:UnspecifiedMatching MONDO:0014154 Charcot-Marie-Tooth disease recessive intermediate C skos:exactMatch UMLS:C3809309 semapv:UnspecifiedMatching MONDO:0014155 atrial fibrillation, familial, 13 skos:exactMatch MEDGEN:815641 semapv:UnspecifiedMatching MONDO:0014155 atrial fibrillation, familial, 13 skos:exactMatch OMIM:615377 atrial fibrillation, familial, 13 semapv:UnspecifiedMatching MONDO:0014155 atrial fibrillation, familial, 13 skos:exactMatch UMLS:C3809311 semapv:UnspecifiedMatching MONDO:0014156 atrial fibrillation, familial, 14 skos:exactMatch MEDGEN:815642 semapv:UnspecifiedMatching MONDO:0014156 atrial fibrillation, familial, 14 skos:exactMatch OMIM:615378 atrial fibrillation, familial, 14 semapv:UnspecifiedMatching MONDO:0014156 atrial fibrillation, familial, 14 skos:exactMatch UMLS:C3809312 semapv:UnspecifiedMatching MONDO:0014157 mandibular hypoplasia-deafness-progeroid syndrome skos:exactMatch MEDGEN:811623 semapv:UnspecifiedMatching MONDO:0014157 mandibular hypoplasia-deafness-progeroid syndrome skos:exactMatch OMIM:615381 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome semapv:UnspecifiedMatching MONDO:0014157 mandibular hypoplasia-deafness-progeroid syndrome skos:exactMatch Orphanet:363649 Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome semapv:UnspecifiedMatching MONDO:0014157 mandibular hypoplasia-deafness-progeroid syndrome skos:exactMatch UMLS:C3715192 semapv:UnspecifiedMatching MONDO:0014158 nephronophthisis 16 skos:exactMatch DOID:0111124 nephronophthisis 16 semapv:UnspecifiedMatching MONDO:0014158 nephronophthisis 16 skos:exactMatch MEDGEN:815650 semapv:UnspecifiedMatching MONDO:0014158 nephronophthisis 16 skos:exactMatch OMIM:615382 nephronophthisis 16 semapv:UnspecifiedMatching MONDO:0014158 nephronophthisis 16 skos:exactMatch SCTID:444558002 semapv:UnspecifiedMatching MONDO:0014158 nephronophthisis 16 skos:exactMatch UMLS:C3809320 semapv:UnspecifiedMatching MONDO:0014159 autosomal recessive spinocerebellar ataxia 14 skos:exactMatch DOID:0080058 autosomal recessive spinocerebellar ataxia 14 semapv:UnspecifiedMatching MONDO:0014159 autosomal recessive spinocerebellar ataxia 14 skos:exactMatch MEDGEN:1636182 semapv:UnspecifiedMatching MONDO:0014159 autosomal recessive spinocerebellar ataxia 14 skos:exactMatch OMIM:615386 spinocerebellar ataxia, autosomal recessive 14 semapv:UnspecifiedMatching MONDO:0014159 autosomal recessive spinocerebellar ataxia 14 skos:exactMatch Orphanet:352403 Spectrin-associated autosomal recessive cerebellar ataxia semapv:UnspecifiedMatching MONDO:0014159 autosomal recessive spinocerebellar ataxia 14 skos:exactMatch SCTID:763351003 semapv:UnspecifiedMatching MONDO:0014159 autosomal recessive spinocerebellar ataxia 14 skos:exactMatch UMLS:C4706415 semapv:UnspecifiedMatching MONDO:0014160 TCR-alpha-beta-positive T-cell deficiency skos:exactMatch DOID:0111977 immunodeficiency 7 semapv:UnspecifiedMatching MONDO:0014160 TCR-alpha-beta-positive T-cell deficiency skos:exactMatch MEDGEN:815662 semapv:UnspecifiedMatching MONDO:0014160 TCR-alpha-beta-positive T-cell deficiency skos:exactMatch OMIM:615387 immunodeficiency 7 semapv:UnspecifiedMatching MONDO:0014160 TCR-alpha-beta-positive T-cell deficiency skos:exactMatch Orphanet:397959 TCR-alpha-beta-positive T-cell deficiency semapv:UnspecifiedMatching MONDO:0014160 TCR-alpha-beta-positive T-cell deficiency skos:exactMatch UMLS:C3809332 semapv:UnspecifiedMatching MONDO:0014161 vesicoureteral reflux 7 skos:exactMatch MEDGEN:815667 semapv:UnspecifiedMatching MONDO:0014161 vesicoureteral reflux 7 skos:exactMatch OMIM:615390 vesicoureteral reflux 7 semapv:UnspecifiedMatching MONDO:0014161 vesicoureteral reflux 7 skos:exactMatch UMLS:C3809337 semapv:UnspecifiedMatching MONDO:0014162 infantile hypertrophic cardiomyopathy due to MRPL44 deficiency skos:exactMatch DOID:0111469 combined oxidative phosphorylation deficiency 16 semapv:UnspecifiedMatching MONDO:0014162 infantile hypertrophic cardiomyopathy due to MRPL44 deficiency skos:exactMatch MEDGEN:815669 semapv:UnspecifiedMatching MONDO:0014162 infantile hypertrophic cardiomyopathy due to MRPL44 deficiency skos:exactMatch OMIM:615395 combined oxidative phosphorylation deficiency 16 semapv:UnspecifiedMatching MONDO:0014162 infantile hypertrophic cardiomyopathy due to MRPL44 deficiency skos:exactMatch Orphanet:352563 Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency semapv:UnspecifiedMatching MONDO:0014162 infantile hypertrophic cardiomyopathy due to MRPL44 deficiency skos:exactMatch UMLS:C3809339 semapv:UnspecifiedMatching MONDO:0014163 left ventricular noncompaction 10 skos:exactMatch MEDGEN:811617 semapv:UnspecifiedMatching MONDO:0014163 left ventricular noncompaction 10 skos:exactMatch OMIM:615396 left ventricular noncompaction 10 semapv:UnspecifiedMatching MONDO:0014163 left ventricular noncompaction 10 skos:exactMatch UMLS:C3715165 semapv:UnspecifiedMatching MONDO:0014164 Meckel syndrome, type 11 skos:exactMatch MEDGEN:815682 semapv:UnspecifiedMatching MONDO:0014164 Meckel syndrome, type 11 skos:exactMatch OMIM:615397 meckel syndrome, type 11 semapv:UnspecifiedMatching MONDO:0014164 Meckel syndrome, type 11 skos:exactMatch UMLS:C3809352 semapv:UnspecifiedMatching MONDO:0014165 multiple congenital anomalies-hypotonia-seizures syndrome 3 skos:exactMatch DOID:0080140 multiple congenital anomalies-hypotonia-seizures syndrome 3 semapv:UnspecifiedMatching MONDO:0014165 multiple congenital anomalies-hypotonia-seizures syndrome 3 skos:exactMatch MEDGEN:815686 semapv:UnspecifiedMatching MONDO:0014165 multiple congenital anomalies-hypotonia-seizures syndrome 3 skos:exactMatch OMIM:615398 multiple congenital anomalies-hypotonia-seizures syndrome 3 semapv:UnspecifiedMatching MONDO:0014165 multiple congenital anomalies-hypotonia-seizures syndrome 3 skos:exactMatch Orphanet:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome semapv:UnspecifiedMatching MONDO:0014165 multiple congenital anomalies-hypotonia-seizures syndrome 3 skos:exactMatch UMLS:C3809356 semapv:UnspecifiedMatching MONDO:0014165 multiple congenital anomalies-hypotonia-seizures syndrome 3 skos:exactMatch mesh:C566367 semapv:UnspecifiedMatching MONDO:0014166 paroxysmal nocturnal hemoglobinuria 2 skos:exactMatch MEDGEN:815699 semapv:UnspecifiedMatching MONDO:0014166 paroxysmal nocturnal hemoglobinuria 2 skos:exactMatch OMIM:615399 paroxysmal nocturnal hemoglobinuria 2 semapv:UnspecifiedMatching MONDO:0014166 paroxysmal nocturnal hemoglobinuria 2 skos:exactMatch UMLS:C3809369 semapv:UnspecifiedMatching MONDO:0014167 epilepsy, familial adult myoclonic, 5 skos:exactMatch DOID:0111691 familial adult myoclonic epilepsy 5 semapv:UnspecifiedMatching MONDO:0014167 epilepsy, familial adult myoclonic, 5 skos:exactMatch MEDGEN:815704 semapv:UnspecifiedMatching MONDO:0014167 epilepsy, familial adult myoclonic, 5 skos:exactMatch OMIM:615400 epilepsy, early-onset, 5, with or without developmental delay semapv:UnspecifiedMatching MONDO:0014167 epilepsy, familial adult myoclonic, 5 skos:exactMatch UMLS:C3809374 semapv:UnspecifiedMatching MONDO:0014168 severe combined immunodeficiency due to CORO1A deficiency skos:exactMatch DOID:0060019 coronin-1A deficiency semapv:UnspecifiedMatching MONDO:0014168 severe combined immunodeficiency due to CORO1A deficiency skos:exactMatch MEDGEN:815713 semapv:UnspecifiedMatching MONDO:0014168 severe combined immunodeficiency due to CORO1A deficiency skos:exactMatch OMIM:615401 immunodeficiency 8 with lymphoproliferation semapv:UnspecifiedMatching MONDO:0014168 severe combined immunodeficiency due to CORO1A deficiency skos:exactMatch Orphanet:228003 Severe combined immunodeficiency due to CORO1A deficiency semapv:UnspecifiedMatching MONDO:0014168 severe combined immunodeficiency due to CORO1A deficiency skos:exactMatch UMLS:C3809383 semapv:UnspecifiedMatching MONDO:0014168 severe combined immunodeficiency due to CORO1A deficiency skos:exactMatch icd11.foundation:575769539 Severe combined immunodeficiency due to CORO1A deficiency semapv:UnspecifiedMatching MONDO:0014169 dyschromatosis universalis hereditaria 3 skos:exactMatch MEDGEN:815724 semapv:UnspecifiedMatching MONDO:0014169 dyschromatosis universalis hereditaria 3 skos:exactMatch OMIM:615402 dyschromatosis universalis hereditaria 3 semapv:UnspecifiedMatching MONDO:0014169 dyschromatosis universalis hereditaria 3 skos:exactMatch UMLS:C3809394 semapv:UnspecifiedMatching MONDO:0014170 complex cortical dysplasia with other brain malformations 3 skos:exactMatch DOID:0090134 complex cortical dysplasia with other brain malformations 3 semapv:UnspecifiedMatching MONDO:0014170 complex cortical dysplasia with other brain malformations 3 skos:exactMatch MEDGEN:815744 semapv:UnspecifiedMatching MONDO:0014170 complex cortical dysplasia with other brain malformations 3 skos:exactMatch OMIM:615411 cortical dysplasia, complex, with other brain malformations 3 semapv:UnspecifiedMatching MONDO:0014170 complex cortical dysplasia with other brain malformations 3 skos:exactMatch UMLS:C3809414 semapv:UnspecifiedMatching MONDO:0014171 complex cortical dysplasia with other brain malformations 4 skos:exactMatch DOID:0090138 complex cortical dysplasia with other brain malformations 4 semapv:UnspecifiedMatching MONDO:0014171 complex cortical dysplasia with other brain malformations 4 skos:exactMatch MEDGEN:815750 semapv:UnspecifiedMatching MONDO:0014171 complex cortical dysplasia with other brain malformations 4 skos:exactMatch OMIM:615412 cortical dysplasia, complex, with other brain malformations 4 semapv:UnspecifiedMatching MONDO:0014171 complex cortical dysplasia with other brain malformations 4 skos:exactMatch UMLS:C3809420 semapv:UnspecifiedMatching MONDO:0014172 spermatogenic failure 12 skos:exactMatch DOID:0070171 spermatogenic failure 12 semapv:UnspecifiedMatching MONDO:0014172 spermatogenic failure 12 skos:exactMatch MEDGEN:815757 semapv:UnspecifiedMatching MONDO:0014172 spermatogenic failure 12 skos:exactMatch OMIM:615413 spermatogenic failure 12 semapv:UnspecifiedMatching MONDO:0014172 spermatogenic failure 12 skos:exactMatch UMLS:C3809427 semapv:UnspecifiedMatching MONDO:0014173 microcephaly 11, primary, autosomal recessive skos:exactMatch DOID:0070287 primary autosomal recessive microcephaly 11 semapv:UnspecifiedMatching MONDO:0014173 microcephaly 11, primary, autosomal recessive skos:exactMatch MEDGEN:815761 semapv:UnspecifiedMatching MONDO:0014173 microcephaly 11, primary, autosomal recessive skos:exactMatch OMIM:615414 microcephaly 11, primary, autosomal recessive semapv:UnspecifiedMatching MONDO:0014173 microcephaly 11, primary, autosomal recessive skos:exactMatch UMLS:C3809431 semapv:UnspecifiedMatching MONDO:0014174 renal-hepatic-pancreatic dysplasia 2 skos:exactMatch MEDGEN:815764 semapv:UnspecifiedMatching MONDO:0014174 renal-hepatic-pancreatic dysplasia 2 skos:exactMatch OMIM:615415 renal-hepatic-pancreatic dysplasia 2 semapv:UnspecifiedMatching MONDO:0014174 renal-hepatic-pancreatic dysplasia 2 skos:exactMatch UMLS:C3809434 semapv:UnspecifiedMatching MONDO:0014175 mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive skos:exactMatch DOID:0080335 mitochondrial DNA depletion syndrome 12b semapv:UnspecifiedMatching MONDO:0014175 mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive skos:exactMatch MEDGEN:815773 semapv:UnspecifiedMatching MONDO:0014175 mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive skos:exactMatch NCIT:C129977 Mitochondrial DNA Depletion Syndrome 12 semapv:UnspecifiedMatching MONDO:0014175 mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive skos:exactMatch OMIM:615418 mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive semapv:UnspecifiedMatching MONDO:0014175 mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive skos:exactMatch UMLS:C3809443 semapv:UnspecifiedMatching MONDO:0014176 hypotonia, infantile, with psychomotor retardation and characteristic facies skos:exactMatch MEDGEN:1642314 semapv:UnspecifiedMatching MONDO:0014176 hypotonia, infantile, with psychomotor retardation and characteristic facies skos:exactMatch OMIMPS:615419 Hypotonia, infantile, with psychomotor retardation and characteristic facies semapv:UnspecifiedMatching MONDO:0014176 hypotonia, infantile, with psychomotor retardation and characteristic facies skos:exactMatch Orphanet:371364 Hypotonia-speech impairment-severe cognitive delay syndrome semapv:UnspecifiedMatching MONDO:0014176 hypotonia, infantile, with psychomotor retardation and characteristic facies skos:exactMatch UMLS:C4706556 semapv:UnspecifiedMatching MONDO:0014177 myopia 22, autosomal dominant skos:exactMatch MEDGEN:815794 semapv:UnspecifiedMatching MONDO:0014177 myopia 22, autosomal dominant skos:exactMatch OMIM:615420 myopia 22, autosomal dominant semapv:UnspecifiedMatching MONDO:0014177 myopia 22, autosomal dominant skos:exactMatch UMLS:C3809464 semapv:UnspecifiedMatching MONDO:0014178 inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 skos:exactMatch DOID:0111384 inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2 semapv:UnspecifiedMatching MONDO:0014178 inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 skos:exactMatch MEDGEN:815798 semapv:UnspecifiedMatching MONDO:0014178 inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 skos:exactMatch OMIM:615422 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 semapv:UnspecifiedMatching MONDO:0014178 inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 skos:exactMatch UMLS:C3809468 semapv:UnspecifiedMatching MONDO:0014179 inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 skos:exactMatch DOID:0111386 inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3 semapv:UnspecifiedMatching MONDO:0014179 inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 skos:exactMatch MEDGEN:815799 semapv:UnspecifiedMatching MONDO:0014179 inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 skos:exactMatch OMIM:615424 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3 semapv:UnspecifiedMatching MONDO:0014179 inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 skos:exactMatch UMLS:C3809469 semapv:UnspecifiedMatching MONDO:0014180 epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency skos:exactMatch MEDGEN:815800 semapv:UnspecifiedMatching MONDO:0014180 epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency skos:exactMatch OMIM:615425 epidermolysis bullosa simplex 3, localized or generalized intermediate, with bp230 deficiency semapv:UnspecifiedMatching MONDO:0014180 epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency skos:exactMatch Orphanet:412181 Epidermolysis bullosa simplex due to BP230 deficiency semapv:UnspecifiedMatching MONDO:0014180 epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency skos:exactMatch UMLS:C3809470 semapv:UnspecifiedMatching MONDO:0014181 amyotrophic lateral sclerosis type 20 skos:exactMatch DOID:0060211 amyotrophic lateral sclerosis type 20 semapv:UnspecifiedMatching MONDO:0014181 amyotrophic lateral sclerosis type 20 skos:exactMatch MEDGEN:811608 semapv:UnspecifiedMatching MONDO:0014181 amyotrophic lateral sclerosis type 20 skos:exactMatch OMIM:615426 amyotrophic lateral sclerosis 20 semapv:UnspecifiedMatching MONDO:0014181 amyotrophic lateral sclerosis type 20 skos:exactMatch UMLS:C3715156 semapv:UnspecifiedMatching MONDO:0014182 autosomal recessive nonsyndromic hearing loss 88 skos:exactMatch DOID:0110533 autosomal recessive nonsyndromic deafness 88 semapv:UnspecifiedMatching MONDO:0014182 autosomal recessive nonsyndromic hearing loss 88 skos:exactMatch MEDGEN:811084 semapv:UnspecifiedMatching MONDO:0014182 autosomal recessive nonsyndromic hearing loss 88 skos:exactMatch OMIM:615429 deafness, autosomal recessive 88 semapv:UnspecifiedMatching MONDO:0014182 autosomal recessive nonsyndromic hearing loss 88 skos:exactMatch UMLS:C2829267 semapv:UnspecifiedMatching MONDO:0014183 myopia 23, autosomal recessive skos:exactMatch MEDGEN:815812 semapv:UnspecifiedMatching MONDO:0014183 myopia 23, autosomal recessive skos:exactMatch OMIM:615431 myopia 23, autosomal recessive semapv:UnspecifiedMatching MONDO:0014183 myopia 23, autosomal recessive skos:exactMatch UMLS:C3809482 semapv:UnspecifiedMatching MONDO:0014184 specific language impairment 5 skos:exactMatch EFO:0005425 semapv:UnspecifiedMatching MONDO:0014184 specific language impairment 5 skos:exactMatch MEDGEN:815813 semapv:UnspecifiedMatching MONDO:0014184 specific language impairment 5 skos:exactMatch OMIM:615432 specific language impairment 5 semapv:UnspecifiedMatching MONDO:0014184 specific language impairment 5 skos:exactMatch UMLS:C3809483 semapv:UnspecifiedMatching MONDO:0014185 chromosome 3q13.31 deletion syndrome skos:exactMatch DOID:0060418 chromosome 3q13.31 deletion syndrome semapv:UnspecifiedMatching MONDO:0014185 chromosome 3q13.31 deletion syndrome skos:exactMatch MEDGEN:815820 semapv:UnspecifiedMatching MONDO:0014185 chromosome 3q13.31 deletion syndrome skos:exactMatch OMIM:615433 chromosome 3q13.31 deletion syndrome semapv:UnspecifiedMatching MONDO:0014185 chromosome 3q13.31 deletion syndrome skos:exactMatch Orphanet:1621 3q13 microdeletion syndrome semapv:UnspecifiedMatching MONDO:0014185 chromosome 3q13.31 deletion syndrome skos:exactMatch SCTID:726705007 semapv:UnspecifiedMatching MONDO:0014185 chromosome 3q13.31 deletion syndrome skos:exactMatch UMLS:C3809490 semapv:UnspecifiedMatching MONDO:0014185 chromosome 3q13.31 deletion syndrome skos:exactMatch mesh:C536808 semapv:UnspecifiedMatching MONDO:0014186 retinitis pigmentosa with or without situs inversus skos:exactMatch DOID:0110419 retinitis pigmentosa with or without situs inversus semapv:UnspecifiedMatching MONDO:0014186 retinitis pigmentosa with or without situs inversus skos:exactMatch MEDGEN:1658130 semapv:UnspecifiedMatching MONDO:0014186 retinitis pigmentosa with or without situs inversus skos:exactMatch OMIM:615434 retinitis pigmentosa 82 with or without situs inversus semapv:UnspecifiedMatching MONDO:0014186 retinitis pigmentosa with or without situs inversus skos:exactMatch UMLS:C4747737 semapv:UnspecifiedMatching MONDO:0014187 aortic aneurysm, familial thoracic 8 skos:exactMatch MEDGEN:815843 semapv:UnspecifiedMatching MONDO:0014187 aortic aneurysm, familial thoracic 8 skos:exactMatch OMIM:615436 aortic aneurysm, familial thoracic 8 semapv:UnspecifiedMatching MONDO:0014187 aortic aneurysm, familial thoracic 8 skos:exactMatch UMLS:C3809513 semapv:UnspecifiedMatching MONDO:0014189 age related macular degeneration 13 skos:exactMatch DOID:0110025 age related macular degeneration 13 semapv:UnspecifiedMatching MONDO:0014189 age related macular degeneration 13 skos:exactMatch MEDGEN:815853 semapv:UnspecifiedMatching MONDO:0014189 age related macular degeneration 13 skos:exactMatch OMIM:615439 macular degeneration, age-related, 13 semapv:UnspecifiedMatching MONDO:0014189 age related macular degeneration 13 skos:exactMatch UMLS:C3809523 semapv:UnspecifiedMatching MONDO:0014190 combined oxidative phosphorylation defect type 17 skos:exactMatch DOID:0111496 combined oxidative phosphorylation deficiency 17 semapv:UnspecifiedMatching MONDO:0014190 combined oxidative phosphorylation defect type 17 skos:exactMatch MEDGEN:815856 semapv:UnspecifiedMatching MONDO:0014190 combined oxidative phosphorylation defect type 17 skos:exactMatch OMIM:615440 combined oxidative phosphorylation deficiency 17 semapv:UnspecifiedMatching MONDO:0014190 combined oxidative phosphorylation defect type 17 skos:exactMatch Orphanet:369913 Combined oxidative phosphorylation defect type 17 semapv:UnspecifiedMatching MONDO:0014190 combined oxidative phosphorylation defect type 17 skos:exactMatch UMLS:C3809526 semapv:UnspecifiedMatching MONDO:0014191 catecholaminergic polymorphic ventricular tachycardia 5 skos:exactMatch DOID:0060679 catecholaminergic polymorphic ventricular tachycardia 5 semapv:UnspecifiedMatching MONDO:0014191 catecholaminergic polymorphic ventricular tachycardia 5 skos:exactMatch MEDGEN:815866 semapv:UnspecifiedMatching MONDO:0014191 catecholaminergic polymorphic ventricular tachycardia 5 skos:exactMatch OMIM:615441 cardiac arrhythmia syndrome, with or without skeletal muscle weakness semapv:UnspecifiedMatching MONDO:0014191 catecholaminergic polymorphic ventricular tachycardia 5 skos:exactMatch UMLS:C3809536 semapv:UnspecifiedMatching MONDO:0014192 primary ciliary dyskinesia 22 skos:exactMatch DOID:0110597 primary ciliary dyskinesia 22 semapv:UnspecifiedMatching MONDO:0014192 primary ciliary dyskinesia 22 skos:exactMatch MEDGEN:815873 semapv:UnspecifiedMatching MONDO:0014192 primary ciliary dyskinesia 22 skos:exactMatch OMIM:615444 ciliary dyskinesia, primary, 22 semapv:UnspecifiedMatching MONDO:0014192 primary ciliary dyskinesia 22 skos:exactMatch UMLS:C3809543 semapv:UnspecifiedMatching MONDO:0014193 primary ciliary dyskinesia 23 skos:exactMatch DOID:0110609 primary ciliary dyskinesia 23 semapv:UnspecifiedMatching MONDO:0014193 primary ciliary dyskinesia 23 skos:exactMatch MEDGEN:815878 semapv:UnspecifiedMatching MONDO:0014193 primary ciliary dyskinesia 23 skos:exactMatch OMIM:615451 ciliary dyskinesia, primary, 23 semapv:UnspecifiedMatching MONDO:0014193 primary ciliary dyskinesia 23 skos:exactMatch UMLS:C3809548 semapv:UnspecifiedMatching MONDO:0014194 mitochondrial complex III deficiency nuclear type 6 skos:exactMatch DOID:0080115 mitochondrial complex III deficiency nuclear type 6 semapv:UnspecifiedMatching MONDO:0014194 mitochondrial complex III deficiency nuclear type 6 skos:exactMatch MEDGEN:815883 semapv:UnspecifiedMatching MONDO:0014194 mitochondrial complex III deficiency nuclear type 6 skos:exactMatch OMIM:615453 mitochondrial complex 3 deficiency, nuclear type 6 semapv:UnspecifiedMatching MONDO:0014194 mitochondrial complex III deficiency nuclear type 6 skos:exactMatch UMLS:C3809553 semapv:UnspecifiedMatching MONDO:0014195 microcornea-myopic chorioretinal atrophy skos:exactMatch MEDGEN:815897 semapv:UnspecifiedMatching MONDO:0014195 microcornea-myopic chorioretinal atrophy skos:exactMatch OMIM:615458 microcornea, myopic chorioretinal atrophy, and telecanthus semapv:UnspecifiedMatching MONDO:0014195 microcornea-myopic chorioretinal atrophy skos:exactMatch Orphanet:369970 Microcornea-myopic chorioretinal atrophy-telecanthus syndrome semapv:UnspecifiedMatching MONDO:0014195 microcornea-myopic chorioretinal atrophy skos:exactMatch UMLS:C3809567 semapv:UnspecifiedMatching MONDO:0014196 Hartsfield-Bixler-Demyer syndrome skos:exactMatch MEDGEN:335111 semapv:UnspecifiedMatching MONDO:0014196 Hartsfield-Bixler-Demyer syndrome skos:exactMatch OMIM:615465 hartsfield syndrome semapv:UnspecifiedMatching MONDO:0014196 Hartsfield-Bixler-Demyer syndrome skos:exactMatch Orphanet:2117 Hartsfield syndrome semapv:UnspecifiedMatching MONDO:0014196 Hartsfield-Bixler-Demyer syndrome skos:exactMatch SCTID:766032007 semapv:UnspecifiedMatching MONDO:0014196 Hartsfield-Bixler-Demyer syndrome skos:exactMatch UMLS:C1845146 semapv:UnspecifiedMatching MONDO:0014196 Hartsfield-Bixler-Demyer syndrome skos:exactMatch mesh:C564484 semapv:UnspecifiedMatching MONDO:0014197 combined immunodeficiency due to MALT1 deficiency skos:exactMatch DOID:0111988 immunodeficiency 12 semapv:UnspecifiedMatching MONDO:0014197 combined immunodeficiency due to MALT1 deficiency skos:exactMatch MEDGEN:815913 semapv:UnspecifiedMatching MONDO:0014197 combined immunodeficiency due to MALT1 deficiency skos:exactMatch OMIM:615468 immunodeficiency 12 semapv:UnspecifiedMatching MONDO:0014197 combined immunodeficiency due to MALT1 deficiency skos:exactMatch Orphanet:397964 Combined immunodeficiency due to MALT1 deficiency semapv:UnspecifiedMatching MONDO:0014197 combined immunodeficiency due to MALT1 deficiency skos:exactMatch UMLS:C3809583 semapv:UnspecifiedMatching MONDO:0014198 mitochondrial DNA depletion syndrome 13 skos:exactMatch DOID:0080131 mitochondrial DNA depletion syndrome 13 semapv:UnspecifiedMatching MONDO:0014198 mitochondrial DNA depletion syndrome 13 skos:exactMatch MEDGEN:815922 semapv:UnspecifiedMatching MONDO:0014198 mitochondrial DNA depletion syndrome 13 skos:exactMatch NCIT:C172095 Mitochondrial DNA Depletion Syndrome 13 semapv:UnspecifiedMatching MONDO:0014198 mitochondrial DNA depletion syndrome 13 skos:exactMatch OMIM:615471 mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) semapv:UnspecifiedMatching MONDO:0014198 mitochondrial DNA depletion syndrome 13 skos:exactMatch Orphanet:369897 Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies semapv:UnspecifiedMatching MONDO:0014198 mitochondrial DNA depletion syndrome 13 skos:exactMatch SCTID:765403009 semapv:UnspecifiedMatching MONDO:0014198 mitochondrial DNA depletion syndrome 13 skos:exactMatch UMLS:C3809592 semapv:UnspecifiedMatching MONDO:0014199 developmental and epileptic encephalopathy, 17 skos:exactMatch DOID:0080450 developmental and epileptic encephalopathy 17 semapv:UnspecifiedMatching MONDO:0014199 developmental and epileptic encephalopathy, 17 skos:exactMatch MEDGEN:815936 semapv:UnspecifiedMatching MONDO:0014199 developmental and epileptic encephalopathy, 17 skos:exactMatch OMIM:615473 developmental and epileptic encephalopathy 17 semapv:UnspecifiedMatching MONDO:0014199 developmental and epileptic encephalopathy, 17 skos:exactMatch UMLS:C3809606 semapv:UnspecifiedMatching MONDO:0014200 aldosterone-producing adenoma with seizures and neurological abnormalities skos:exactMatch MEDGEN:815939 semapv:UnspecifiedMatching MONDO:0014200 aldosterone-producing adenoma with seizures and neurological abnormalities skos:exactMatch OMIM:615474 primary aldosteronism, seizures, and neurologic abnormalities semapv:UnspecifiedMatching MONDO:0014200 aldosterone-producing adenoma with seizures and neurological abnormalities skos:exactMatch Orphanet:369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome semapv:UnspecifiedMatching MONDO:0014200 aldosterone-producing adenoma with seizures and neurological abnormalities skos:exactMatch UMLS:C3809609 semapv:UnspecifiedMatching MONDO:0014201 developmental and epileptic encephalopathy, 18 skos:exactMatch DOID:0080413 developmental and epileptic encephalopathy 18 semapv:UnspecifiedMatching MONDO:0014201 developmental and epileptic encephalopathy, 18 skos:exactMatch MEDGEN:815954 semapv:UnspecifiedMatching MONDO:0014201 developmental and epileptic encephalopathy, 18 skos:exactMatch OMIM:615476 developmental and epileptic encephalopathy 18 semapv:UnspecifiedMatching MONDO:0014201 developmental and epileptic encephalopathy, 18 skos:exactMatch UMLS:C3809624 semapv:UnspecifiedMatching MONDO:0014202 primary ciliary dyskinesia 24 skos:exactMatch DOID:0110628 primary ciliary dyskinesia 24 semapv:UnspecifiedMatching MONDO:0014202 primary ciliary dyskinesia 24 skos:exactMatch MEDGEN:815964 semapv:UnspecifiedMatching MONDO:0014202 primary ciliary dyskinesia 24 skos:exactMatch OMIM:615481 ciliary dyskinesia, primary, 24 semapv:UnspecifiedMatching MONDO:0014202 primary ciliary dyskinesia 24 skos:exactMatch UMLS:C3809634 semapv:UnspecifiedMatching MONDO:0014203 primary ciliary dyskinesia 25 skos:exactMatch DOID:0110615 primary ciliary dyskinesia 25 semapv:UnspecifiedMatching MONDO:0014203 primary ciliary dyskinesia 25 skos:exactMatch MEDGEN:815971 semapv:UnspecifiedMatching MONDO:0014203 primary ciliary dyskinesia 25 skos:exactMatch OMIM:615482 ciliary dyskinesia, primary, 25 semapv:UnspecifiedMatching MONDO:0014203 primary ciliary dyskinesia 25 skos:exactMatch UMLS:C3809641 semapv:UnspecifiedMatching MONDO:0014204 basal ganglia calcification, idiopathic, 5 skos:exactMatch MEDGEN:815975 semapv:UnspecifiedMatching MONDO:0014204 basal ganglia calcification, idiopathic, 5 skos:exactMatch OMIM:615483 basal ganglia calcification, idiopathic, 5 semapv:UnspecifiedMatching MONDO:0014204 basal ganglia calcification, idiopathic, 5 skos:exactMatch UMLS:C3809645 semapv:UnspecifiedMatching MONDO:0014205 severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome skos:exactMatch DOID:0080893 Bainbridge-Ropers syndrome semapv:UnspecifiedMatching MONDO:0014205 severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome skos:exactMatch MEDGEN:1656239 semapv:UnspecifiedMatching MONDO:0014205 severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome skos:exactMatch OMIM:615485 bainbridge-ropers syndrome semapv:UnspecifiedMatching MONDO:0014205 severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome skos:exactMatch Orphanet:352577 Bainbridge-Ropers syndrome semapv:UnspecifiedMatching MONDO:0014205 severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome skos:exactMatch UMLS:C4750837 semapv:UnspecifiedMatching MONDO:0014206 severe early-onset pulmonary alveolar proteinosis due to MARS deficiency skos:exactMatch MEDGEN:895551 semapv:UnspecifiedMatching MONDO:0014206 severe early-onset pulmonary alveolar proteinosis due to MARS deficiency skos:exactMatch OMIM:615486 interstitial lung and liver disease semapv:UnspecifiedMatching MONDO:0014206 severe early-onset pulmonary alveolar proteinosis due to MARS deficiency skos:exactMatch Orphanet:440427 Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency semapv:UnspecifiedMatching MONDO:0014206 severe early-onset pulmonary alveolar proteinosis due to MARS deficiency skos:exactMatch UMLS:C4225400 semapv:UnspecifiedMatching MONDO:0014207 age related macular degeneration 14 skos:exactMatch DOID:0110026 age related macular degeneration 14 semapv:UnspecifiedMatching MONDO:0014207 age related macular degeneration 14 skos:exactMatch MEDGEN:815983 semapv:UnspecifiedMatching MONDO:0014207 age related macular degeneration 14 skos:exactMatch OMIM:615489 macular degeneration, age-related, 14 semapv:UnspecifiedMatching MONDO:0014207 age related macular degeneration 14 skos:exactMatch UMLS:C3809653 semapv:UnspecifiedMatching MONDO:0014208 Charcot-Marie-Tooth disease type 2R skos:exactMatch DOID:0110161 Charcot-Marie-Tooth disease type 2R semapv:UnspecifiedMatching MONDO:0014208 Charcot-Marie-Tooth disease type 2R skos:exactMatch MEDGEN:815985 semapv:UnspecifiedMatching MONDO:0014208 Charcot-Marie-Tooth disease type 2R skos:exactMatch OMIM:615490 charcot-marie-tooth disease, axonal, type 2r semapv:UnspecifiedMatching MONDO:0014208 Charcot-Marie-Tooth disease type 2R skos:exactMatch Orphanet:397968 Charcot-Marie-Tooth disease type 2R semapv:UnspecifiedMatching MONDO:0014208 Charcot-Marie-Tooth disease type 2R skos:exactMatch UMLS:C3809655 semapv:UnspecifiedMatching MONDO:0014209 early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome skos:exactMatch DOID:0112344 hereditary spastic paraplegia 79B semapv:UnspecifiedMatching MONDO:0014209 early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome skos:exactMatch MEDGEN:815995 semapv:UnspecifiedMatching MONDO:0014209 early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome skos:exactMatch OMIM:615491 spastic paraplegia 79b, autosomal recessive semapv:UnspecifiedMatching MONDO:0014209 early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome skos:exactMatch Orphanet:352654 Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome semapv:UnspecifiedMatching MONDO:0014209 early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome skos:exactMatch UMLS:C3809665 semapv:UnspecifiedMatching MONDO:0014210 intellectual disability-hypotonia-spasticity-sleep disorder syndrome skos:exactMatch DOID:0081202 autosomal recessive intellectual developmental disorder 37 semapv:UnspecifiedMatching MONDO:0014210 intellectual disability-hypotonia-spasticity-sleep disorder syndrome skos:exactMatch MEDGEN:816002 semapv:UnspecifiedMatching MONDO:0014210 intellectual disability-hypotonia-spasticity-sleep disorder syndrome skos:exactMatch OMIM:615493 intellectual developmental disorder, autosomal recessive 37 semapv:UnspecifiedMatching MONDO:0014210 intellectual disability-hypotonia-spasticity-sleep disorder syndrome skos:exactMatch Orphanet:356996 ANK3-related intellectual disability-sleep disturbance syndrome semapv:UnspecifiedMatching MONDO:0014210 intellectual disability-hypotonia-spasticity-sleep disorder syndrome skos:exactMatch UMLS:C3809672 semapv:UnspecifiedMatching MONDO:0014211 primary ciliary dyskinesia 26 skos:exactMatch DOID:0110627 primary ciliary dyskinesia 26 semapv:UnspecifiedMatching MONDO:0014211 primary ciliary dyskinesia 26 skos:exactMatch MEDGEN:816014 semapv:UnspecifiedMatching MONDO:0014211 primary ciliary dyskinesia 26 skos:exactMatch OMIM:615500 ciliary dyskinesia, primary, 26 semapv:UnspecifiedMatching MONDO:0014211 primary ciliary dyskinesia 26 skos:exactMatch UMLS:C3809684 semapv:UnspecifiedMatching MONDO:0014212 sulfite oxidase deficiency due to molybdenum cofactor deficiency type C skos:exactMatch DOID:0111166 molybdenum cofactor deficiency type C semapv:UnspecifiedMatching MONDO:0014212 sulfite oxidase deficiency due to molybdenum cofactor deficiency type C skos:exactMatch MEDGEN:340761 semapv:UnspecifiedMatching MONDO:0014212 sulfite oxidase deficiency due to molybdenum cofactor deficiency type C skos:exactMatch OMIM:615501 molybdenum cofactor deficiency, type c semapv:UnspecifiedMatching MONDO:0014212 sulfite oxidase deficiency due to molybdenum cofactor deficiency type C skos:exactMatch Orphanet:308400 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C semapv:UnspecifiedMatching MONDO:0014212 sulfite oxidase deficiency due to molybdenum cofactor deficiency type C skos:exactMatch UMLS:C1854990 semapv:UnspecifiedMatching MONDO:0014212 sulfite oxidase deficiency due to molybdenum cofactor deficiency type C skos:exactMatch mesh:C565374 semapv:UnspecifiedMatching MONDO:0014213 CTCF-related neurodevelopmental disorder skos:exactMatch DOID:0070051 autosomal dominant intellectual developmental disorder 21 semapv:UnspecifiedMatching MONDO:0014213 CTCF-related neurodevelopmental disorder skos:exactMatch MEDGEN:816016 semapv:UnspecifiedMatching MONDO:0014213 CTCF-related neurodevelopmental disorder skos:exactMatch OMIM:615502 intellectual developmental disorder, autosomal dominant 21 semapv:UnspecifiedMatching MONDO:0014213 CTCF-related neurodevelopmental disorder skos:exactMatch Orphanet:363611 CTCF-related neurodevelopmental disorder semapv:UnspecifiedMatching MONDO:0014213 CTCF-related neurodevelopmental disorder skos:exactMatch UMLS:C3809686 semapv:UnspecifiedMatching MONDO:0014214 short-rib thoracic dysplasia 8 with or without polydactyly skos:exactMatch DOID:0110094 short-rib thoracic dysplasia 8 with or without polydactyly semapv:UnspecifiedMatching MONDO:0014214 short-rib thoracic dysplasia 8 with or without polydactyly skos:exactMatch MEDGEN:816021 semapv:UnspecifiedMatching MONDO:0014214 short-rib thoracic dysplasia 8 with or without polydactyly skos:exactMatch OMIM:615503 short-rib thoracic dysplasia 8 with or without polydactyly semapv:UnspecifiedMatching MONDO:0014214 short-rib thoracic dysplasia 8 with or without polydactyly skos:exactMatch UMLS:C3809691 semapv:UnspecifiedMatching MONDO:0014215 primary ciliary dyskinesia 27 skos:exactMatch DOID:0110611 primary ciliary dyskinesia 27 semapv:UnspecifiedMatching MONDO:0014215 primary ciliary dyskinesia 27 skos:exactMatch MEDGEN:816031 semapv:UnspecifiedMatching MONDO:0014215 primary ciliary dyskinesia 27 skos:exactMatch OMIM:615504 ciliary dyskinesia, primary, 27 semapv:UnspecifiedMatching MONDO:0014215 primary ciliary dyskinesia 27 skos:exactMatch UMLS:C3809701 semapv:UnspecifiedMatching MONDO:0014216 primary ciliary dyskinesia 28 skos:exactMatch DOID:0110607 primary ciliary dyskinesia 28 semapv:UnspecifiedMatching MONDO:0014216 primary ciliary dyskinesia 28 skos:exactMatch MEDGEN:816036 semapv:UnspecifiedMatching MONDO:0014216 primary ciliary dyskinesia 28 skos:exactMatch OMIM:615505 ciliary dyskinesia, primary, 28 semapv:UnspecifiedMatching MONDO:0014216 primary ciliary dyskinesia 28 skos:exactMatch UMLS:C3809706 semapv:UnspecifiedMatching MONDO:0014217 telangiectasia, hereditary hemorrhagic, type 5 skos:exactMatch MEDGEN:816040 semapv:UnspecifiedMatching MONDO:0014217 telangiectasia, hereditary hemorrhagic, type 5 skos:exactMatch OMIM:615506 telangiectasia, hereditary hemorrhagic, type 5 semapv:UnspecifiedMatching MONDO:0014217 telangiectasia, hereditary hemorrhagic, type 5 skos:exactMatch UMLS:C3809710 semapv:UnspecifiedMatching MONDO:0014218 severe dermatitis-multiple allergies-metabolic wasting syndrome skos:exactMatch MEDGEN:816049 semapv:UnspecifiedMatching MONDO:0014218 severe dermatitis-multiple allergies-metabolic wasting syndrome skos:exactMatch OMIM:615508 erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige semapv:UnspecifiedMatching MONDO:0014218 severe dermatitis-multiple allergies-metabolic wasting syndrome skos:exactMatch Orphanet:369992 Severe dermatitis-multiple allergies-metabolic wasting syndrome semapv:UnspecifiedMatching MONDO:0014218 severe dermatitis-multiple allergies-metabolic wasting syndrome skos:exactMatch UMLS:C3809719 semapv:UnspecifiedMatching MONDO:0014219 alacrima, achalasia, and intellectual disability syndrome skos:exactMatch DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome semapv:UnspecifiedMatching MONDO:0014219 alacrima, achalasia, and intellectual disability syndrome skos:exactMatch MEDGEN:1640947 semapv:UnspecifiedMatching MONDO:0014219 alacrima, achalasia, and intellectual disability syndrome skos:exactMatch OMIM:615510 alacrima, achalasia, and impaired intellectual development syndrome semapv:UnspecifiedMatching MONDO:0014219 alacrima, achalasia, and intellectual disability syndrome skos:exactMatch UMLS:C4706563 semapv:UnspecifiedMatching MONDO:0014220 myopathy due to myoadenylate deaminase deficiency skos:exactMatch MEDGEN:811508 semapv:UnspecifiedMatching MONDO:0014220 myopathy due to myoadenylate deaminase deficiency skos:exactMatch NCIT:C157504 Myopathy due to Myoadenylate Deaminase Deficiency semapv:UnspecifiedMatching MONDO:0014220 myopathy due to myoadenylate deaminase deficiency skos:exactMatch OMIM:615511 myopathy due to myoadenylate deaminase deficiency semapv:UnspecifiedMatching MONDO:0014220 myopathy due to myoadenylate deaminase deficiency skos:exactMatch UMLS:C3714933 semapv:UnspecifiedMatching MONDO:0014221 triosephosphate isomerase deficiency skos:exactMatch DOID:0050884 triosephosphate isomerase deficiency semapv:UnspecifiedMatching MONDO:0014221 triosephosphate isomerase deficiency skos:exactMatch MEDGEN:349893 semapv:UnspecifiedMatching MONDO:0014221 triosephosphate isomerase deficiency skos:exactMatch NCIT:C131652 Triosephosphate Isomerase Deficiency semapv:UnspecifiedMatching MONDO:0014221 triosephosphate isomerase deficiency skos:exactMatch OMIM:615512 triosephosphate isomerase deficiency semapv:UnspecifiedMatching MONDO:0014221 triosephosphate isomerase deficiency skos:exactMatch Orphanet:868 Triose phosphate-isomerase deficiency semapv:UnspecifiedMatching MONDO:0014221 triosephosphate isomerase deficiency skos:exactMatch SCTID:234405009 semapv:UnspecifiedMatching MONDO:0014221 triosephosphate isomerase deficiency skos:exactMatch UMLS:C1860808 semapv:UnspecifiedMatching MONDO:0014221 triosephosphate isomerase deficiency skos:exactMatch mesh:C566029 semapv:UnspecifiedMatching MONDO:0014222 immunodeficiency 14 skos:exactMatch DOID:0111936 immunodeficiency 14 semapv:UnspecifiedMatching MONDO:0014222 immunodeficiency 14 skos:exactMatch MEDGEN:811535 semapv:UnspecifiedMatching MONDO:0014222 immunodeficiency 14 skos:exactMatch OMIM:615513 immunodeficiency 14a with lymphoproliferation, autosomal dominant semapv:UnspecifiedMatching MONDO:0014222 immunodeficiency 14 skos:exactMatch Orphanet:693661 Activated PI3K-delta syndrome 1 semapv:UnspecifiedMatching MONDO:0014222 immunodeficiency 14 skos:exactMatch UMLS:C3714976 semapv:UnspecifiedMatching MONDO:0014223 amyotrophic lateral sclerosis type 19 skos:exactMatch DOID:0060210 amyotrophic lateral sclerosis type 19 semapv:UnspecifiedMatching MONDO:0014223 amyotrophic lateral sclerosis type 19 skos:exactMatch MEDGEN:811607 semapv:UnspecifiedMatching MONDO:0014223 amyotrophic lateral sclerosis type 19 skos:exactMatch OMIM:615515 amyotrophic lateral sclerosis 19 semapv:UnspecifiedMatching MONDO:0014223 amyotrophic lateral sclerosis type 19 skos:exactMatch UMLS:C3715155 semapv:UnspecifiedMatching MONDO:0014224 developmental delay with autism spectrum disorder and gait instability skos:exactMatch DOID:0081203 autosomal recessive intellectual developmental disorder 38 semapv:UnspecifiedMatching MONDO:0014224 developmental delay with autism spectrum disorder and gait instability skos:exactMatch MEDGEN:816083 semapv:UnspecifiedMatching MONDO:0014224 developmental delay with autism spectrum disorder and gait instability skos:exactMatch OMIM:615516 intellectual developmental disorder, autosomal recessive 38 semapv:UnspecifiedMatching MONDO:0014224 developmental delay with autism spectrum disorder and gait instability skos:exactMatch Orphanet:329195 Developmental delay with autism spectrum disorder and gait instability semapv:UnspecifiedMatching MONDO:0014224 developmental delay with autism spectrum disorder and gait instability skos:exactMatch UMLS:C3809753 semapv:UnspecifiedMatching MONDO:0014225 hemochromatosis type 5 skos:exactMatch DOID:0111031 hemochromatosis type 5 semapv:UnspecifiedMatching MONDO:0014225 hemochromatosis type 5 skos:exactMatch MEDGEN:341982 semapv:UnspecifiedMatching MONDO:0014225 hemochromatosis type 5 skos:exactMatch OMIM:615517 hemochromatosis, type 5 semapv:UnspecifiedMatching MONDO:0014225 hemochromatosis type 5 skos:exactMatch Orphanet:247790 FTH1-related iron overload semapv:UnspecifiedMatching MONDO:0014225 hemochromatosis type 5 skos:exactMatch UMLS:C1851316 semapv:UnspecifiedMatching MONDO:0014225 hemochromatosis type 5 skos:exactMatch mesh:C565020 semapv:UnspecifiedMatching MONDO:0014226 idiopathic CD4 lymphocytopenia skos:exactMatch DOID:0111987 immunodeficiency 13 semapv:UnspecifiedMatching MONDO:0014226 idiopathic CD4 lymphocytopenia skos:exactMatch MEDGEN:816098 semapv:UnspecifiedMatching MONDO:0014226 idiopathic CD4 lymphocytopenia skos:exactMatch OMIM:615518 immunodeficiency 13 semapv:UnspecifiedMatching MONDO:0014226 idiopathic CD4 lymphocytopenia skos:exactMatch Orphanet:228000 Idiopathic CD4 lymphocytopenia semapv:UnspecifiedMatching MONDO:0014226 idiopathic CD4 lymphocytopenia skos:exactMatch SCTID:763713000 semapv:UnspecifiedMatching MONDO:0014226 idiopathic CD4 lymphocytopenia skos:exactMatch UMLS:C3809768 semapv:UnspecifiedMatching MONDO:0014226 idiopathic CD4 lymphocytopenia skos:exactMatch icd11.foundation:1639000446 Idiopathic CD4 lymphocytopenia semapv:UnspecifiedMatching MONDO:0014227 hypopigmentation-punctate palmoplantar keratoderma syndrome skos:exactMatch MEDGEN:816111 semapv:UnspecifiedMatching MONDO:0014227 hypopigmentation-punctate palmoplantar keratoderma syndrome skos:exactMatch OMIM:615522 cole disease semapv:UnspecifiedMatching MONDO:0014227 hypopigmentation-punctate palmoplantar keratoderma syndrome skos:exactMatch Orphanet:324561 Hypopigmentation-punctate palmoplantar keratoderma syndrome semapv:UnspecifiedMatching MONDO:0014227 hypopigmentation-punctate palmoplantar keratoderma syndrome skos:exactMatch SCTID:711154007 semapv:UnspecifiedMatching MONDO:0014227 hypopigmentation-punctate palmoplantar keratoderma syndrome skos:exactMatch UMLS:C3809781 semapv:UnspecifiedMatching MONDO:0014228 corneal dystrophy, Fuchs endothelial, 8 skos:exactMatch MEDGEN:816128 semapv:UnspecifiedMatching MONDO:0014228 corneal dystrophy, Fuchs endothelial, 8 skos:exactMatch OMIM:615523 corneal dystrophy, fuchs endothelial, 8 semapv:UnspecifiedMatching MONDO:0014228 corneal dystrophy, Fuchs endothelial, 8 skos:exactMatch UMLS:C3809798 semapv:UnspecifiedMatching MONDO:0014229 microphthalmia, syndromic 12 skos:exactMatch DOID:0111800 syndromic microphthalmia 12 semapv:UnspecifiedMatching MONDO:0014229 microphthalmia, syndromic 12 skos:exactMatch MEDGEN:816133 semapv:UnspecifiedMatching MONDO:0014229 microphthalmia, syndromic 12 skos:exactMatch OMIM:615524 microphthalmia, syndromic 12 semapv:UnspecifiedMatching MONDO:0014229 microphthalmia, syndromic 12 skos:exactMatch Orphanet:689829 Microphthalmia-motor delay-language delay-brain anomalies-diaphragmatic hernia syndrome semapv:UnspecifiedMatching MONDO:0014229 microphthalmia, syndromic 12 skos:exactMatch UMLS:C3809803 semapv:UnspecifiedMatching MONDO:0014230 candidiasis, familial, 8 skos:exactMatch MEDGEN:811541 semapv:UnspecifiedMatching MONDO:0014230 candidiasis, familial, 8 skos:exactMatch OMIM:615527 candidiasis, familial, 8 semapv:UnspecifiedMatching MONDO:0014230 candidiasis, familial, 8 skos:exactMatch UMLS:C3714992 semapv:UnspecifiedMatching MONDO:0014231 juvenile onset Parkinson disease 19A skos:exactMatch DOID:0060891 Parkinson's disease 19A semapv:UnspecifiedMatching MONDO:0014231 juvenile onset Parkinson disease 19A skos:exactMatch MEDGEN:816141 semapv:UnspecifiedMatching MONDO:0014231 juvenile onset Parkinson disease 19A skos:exactMatch OMIM:615528 parkinson disease 19a, juvenile-onset semapv:UnspecifiedMatching MONDO:0014231 juvenile onset Parkinson disease 19A skos:exactMatch UMLS:C3809811 semapv:UnspecifiedMatching MONDO:0014232 craniosynostosis 5, susceptibility to skos:exactMatch MEDGEN:816149 semapv:UnspecifiedMatching MONDO:0014232 craniosynostosis 5, susceptibility to skos:exactMatch OMIM:615529 craniosynostosis 5, susceptibility to semapv:UnspecifiedMatching MONDO:0014232 craniosynostosis 5, susceptibility to skos:exactMatch UMLS:C3809819 semapv:UnspecifiedMatching MONDO:0014233 early-onset Parkinson disease 20 skos:exactMatch DOID:0060898 Parkinson's disease 20 semapv:UnspecifiedMatching MONDO:0014233 early-onset Parkinson disease 20 skos:exactMatch MEDGEN:816154 semapv:UnspecifiedMatching MONDO:0014233 early-onset Parkinson disease 20 skos:exactMatch OMIM:615530 parkinson disease 20, early-onset semapv:UnspecifiedMatching MONDO:0014233 early-onset Parkinson disease 20 skos:exactMatch UMLS:C3809824 semapv:UnspecifiedMatching MONDO:0014234 reticulate acropigmentation of Kitamura skos:exactMatch DOID:0060258 reticulate acropigmentation of Kitamura semapv:UnspecifiedMatching MONDO:0014234 reticulate acropigmentation of Kitamura skos:exactMatch MEDGEN:98363 semapv:UnspecifiedMatching MONDO:0014234 reticulate acropigmentation of Kitamura skos:exactMatch OMIM:615537 reticulate acropigmentation of kitamura semapv:UnspecifiedMatching MONDO:0014234 reticulate acropigmentation of Kitamura skos:exactMatch Orphanet:178307 Reticulate acropigmentation of Kitamura semapv:UnspecifiedMatching MONDO:0014234 reticulate acropigmentation of Kitamura skos:exactMatch SCTID:239133004 semapv:UnspecifiedMatching MONDO:0014234 reticulate acropigmentation of Kitamura skos:exactMatch UMLS:C0406811 semapv:UnspecifiedMatching MONDO:0014235 chromosome 22q13 duplication syndrome skos:exactMatch DOID:0060437 chromosome 22q13 duplication syndrome semapv:UnspecifiedMatching MONDO:0014235 chromosome 22q13 duplication syndrome skos:exactMatch MEDGEN:816174 semapv:UnspecifiedMatching MONDO:0014235 chromosome 22q13 duplication syndrome skos:exactMatch OMIM:615538 chromosome 22q13 duplication syndrome semapv:UnspecifiedMatching MONDO:0014235 chromosome 22q13 duplication syndrome skos:exactMatch UMLS:C3809844 semapv:UnspecifiedMatching MONDO:0014236 Ehlers-Danlos syndrome, musculocontractural type 2 skos:exactMatch DOID:0080735 Ehlers-Danlos syndrome kyphoscoliotic type 2 semapv:UnspecifiedMatching MONDO:0014236 Ehlers-Danlos syndrome, musculocontractural type 2 skos:exactMatch DOID:0080737 Ehlers-Danlos syndrome musculocontractural type 2 semapv:UnspecifiedMatching MONDO:0014236 Ehlers-Danlos syndrome, musculocontractural type 2 skos:exactMatch MEDGEN:816175 semapv:UnspecifiedMatching MONDO:0014236 Ehlers-Danlos syndrome, musculocontractural type 2 skos:exactMatch OMIM:615539 ehlers-danlos syndrome, musculocontractural type, 2 semapv:UnspecifiedMatching MONDO:0014236 Ehlers-Danlos syndrome, musculocontractural type 2 skos:exactMatch UMLS:C3809845 semapv:UnspecifiedMatching MONDO:0014237 autosomal recessive nonsyndromic hearing loss 76 skos:exactMatch DOID:0110524 autosomal recessive nonsyndromic deafness 76 semapv:UnspecifiedMatching MONDO:0014237 autosomal recessive nonsyndromic hearing loss 76 skos:exactMatch MEDGEN:811137 semapv:UnspecifiedMatching MONDO:0014237 autosomal recessive nonsyndromic hearing loss 76 skos:exactMatch OMIM:615540 deafness, autosomal recessive 76 semapv:UnspecifiedMatching MONDO:0014237 autosomal recessive nonsyndromic hearing loss 76 skos:exactMatch UMLS:C3147083 semapv:UnspecifiedMatching MONDO:0014238 severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome skos:exactMatch DOID:0081204 autosomal recessive intellectual developmental disorder 39 semapv:UnspecifiedMatching MONDO:0014238 severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome skos:exactMatch MEDGEN:816183 semapv:UnspecifiedMatching MONDO:0014238 severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome skos:exactMatch OMIM:615541 intellectual developmental disorder, autosomal recessive 39 semapv:UnspecifiedMatching MONDO:0014238 severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome skos:exactMatch Orphanet:391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome semapv:UnspecifiedMatching MONDO:0014238 severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome skos:exactMatch UMLS:C3809853 semapv:UnspecifiedMatching MONDO:0014239 testicular anomalies with or without congenital heart disease skos:exactMatch MEDGEN:816188 semapv:UnspecifiedMatching MONDO:0014239 testicular anomalies with or without congenital heart disease skos:exactMatch OMIM:615542 testicular anomalies with or without congenital heart disease semapv:UnspecifiedMatching MONDO:0014239 testicular anomalies with or without congenital heart disease skos:exactMatch UMLS:C3809858 semapv:UnspecifiedMatching MONDO:0014240 periventricular nodular heterotopia 6 skos:exactMatch MEDGEN:816202 semapv:UnspecifiedMatching MONDO:0014240 periventricular nodular heterotopia 6 skos:exactMatch OMIM:615544 periventricular nodular heterotopia 6 semapv:UnspecifiedMatching MONDO:0014240 periventricular nodular heterotopia 6 skos:exactMatch UMLS:C3809872 semapv:UnspecifiedMatching MONDO:0014241 leukemia, acute lymphoblastic, susceptibility to, 3 skos:exactMatch MEDGEN:816204 semapv:UnspecifiedMatching MONDO:0014241 leukemia, acute lymphoblastic, susceptibility to, 3 skos:exactMatch OMIM:615545 leukemia, acute lymphoblastic, susceptibility to, 3 semapv:UnspecifiedMatching MONDO:0014241 leukemia, acute lymphoblastic, susceptibility to, 3 skos:exactMatch UMLS:C3809874 semapv:UnspecifiedMatching MONDO:0014242 van Maldergem syndrome 2 skos:exactMatch DOID:0080586 Van Maldergem syndrome 2 semapv:UnspecifiedMatching MONDO:0014242 van Maldergem syndrome 2 skos:exactMatch MEDGEN:816205 semapv:UnspecifiedMatching MONDO:0014242 van Maldergem syndrome 2 skos:exactMatch OMIM:615546 van maldergem syndrome 2 semapv:UnspecifiedMatching MONDO:0014242 van Maldergem syndrome 2 skos:exactMatch UMLS:C3809875 semapv:UnspecifiedMatching MONDO:0014243 Schaaf-Yang syndrome skos:exactMatch DOID:0111715 Schaaf-Yang syndrome semapv:UnspecifiedMatching MONDO:0014243 Schaaf-Yang syndrome skos:exactMatch MEDGEN:1807366 semapv:UnspecifiedMatching MONDO:0014243 Schaaf-Yang syndrome skos:exactMatch OMIM:615547 schaaf-yang syndrome semapv:UnspecifiedMatching MONDO:0014243 Schaaf-Yang syndrome skos:exactMatch Orphanet:398069 Schaaf-Yang syndrome semapv:UnspecifiedMatching MONDO:0014243 Schaaf-Yang syndrome skos:exactMatch UMLS:C5575066 semapv:UnspecifiedMatching MONDO:0014243 Schaaf-Yang syndrome skos:exactMatch mesh:C535385 semapv:UnspecifiedMatching MONDO:0014244 hereditary sensory and autonomic neuropathy type 7 skos:exactMatch DOID:0070149 hereditary sensory and autonomic neuropathy type 7 semapv:UnspecifiedMatching MONDO:0014244 hereditary sensory and autonomic neuropathy type 7 skos:exactMatch MEDGEN:816212 semapv:UnspecifiedMatching MONDO:0014244 hereditary sensory and autonomic neuropathy type 7 skos:exactMatch NCIT:C125388 Neuropathy, Hereditary Sensory and Autonomic, Type VII semapv:UnspecifiedMatching MONDO:0014244 hereditary sensory and autonomic neuropathy type 7 skos:exactMatch OMIM:615548 neuropathy, hereditary sensory and autonomic, type 7 semapv:UnspecifiedMatching MONDO:0014244 hereditary sensory and autonomic neuropathy type 7 skos:exactMatch Orphanet:391397 Hereditary sensory and autonomic neuropathy type 7 semapv:UnspecifiedMatching MONDO:0014244 hereditary sensory and autonomic neuropathy type 7 skos:exactMatch UMLS:C3809882 semapv:UnspecifiedMatching MONDO:0014245 Diamond-Blackfan anemia 12 skos:exactMatch DOID:0111882 Diamond-Blackfan anemia 12 semapv:UnspecifiedMatching MONDO:0014245 Diamond-Blackfan anemia 12 skos:exactMatch MEDGEN:816218 semapv:UnspecifiedMatching MONDO:0014245 Diamond-Blackfan anemia 12 skos:exactMatch OMIM:615550 diamond-blackfan anemia 12 semapv:UnspecifiedMatching MONDO:0014245 Diamond-Blackfan anemia 12 skos:exactMatch UMLS:C3809888 semapv:UnspecifiedMatching MONDO:0014246 episodic pain syndrome, familial, 2 skos:exactMatch DOID:0111730 familial episodic pain syndrome 2 semapv:UnspecifiedMatching MONDO:0014246 episodic pain syndrome, familial, 2 skos:exactMatch MEDGEN:816223 semapv:UnspecifiedMatching MONDO:0014246 episodic pain syndrome, familial, 2 skos:exactMatch OMIM:615551 episodic pain syndrome, familial, 2 semapv:UnspecifiedMatching MONDO:0014246 episodic pain syndrome, familial, 2 skos:exactMatch UMLS:C3809893 semapv:UnspecifiedMatching MONDO:0014247 familial episodic pain syndrome with predominantly lower limb involvement skos:exactMatch DOID:0111731 familial episodic pain syndrome 3 semapv:UnspecifiedMatching MONDO:0014247 familial episodic pain syndrome with predominantly lower limb involvement skos:exactMatch MEDGEN:816229 semapv:UnspecifiedMatching MONDO:0014247 familial episodic pain syndrome with predominantly lower limb involvement skos:exactMatch NCIT:C125390 Episodic Pain Syndrome, Familial, 3 semapv:UnspecifiedMatching MONDO:0014247 familial episodic pain syndrome with predominantly lower limb involvement skos:exactMatch OMIM:615552 episodic pain syndrome, familial, 3 semapv:UnspecifiedMatching MONDO:0014247 familial episodic pain syndrome with predominantly lower limb involvement skos:exactMatch Orphanet:391392 Familial episodic pain syndrome with predominantly lower limb involvement semapv:UnspecifiedMatching MONDO:0014247 familial episodic pain syndrome with predominantly lower limb involvement skos:exactMatch UMLS:C3809899 semapv:UnspecifiedMatching MONDO:0014248 autism spectrum disorder - epilepsy - arthrogryposis syndrome skos:exactMatch MEDGEN:816240 semapv:UnspecifiedMatching MONDO:0014248 autism spectrum disorder - epilepsy - arthrogryposis syndrome skos:exactMatch OMIM:615553 arthrogryposis, impaired intellectual development, and seizures semapv:UnspecifiedMatching MONDO:0014248 autism spectrum disorder - epilepsy - arthrogryposis syndrome skos:exactMatch Orphanet:370943 Autism spectrum disorder-epilepsy-arthrogryposis syndrome semapv:UnspecifiedMatching MONDO:0014248 autism spectrum disorder - epilepsy - arthrogryposis syndrome skos:exactMatch UMLS:C3809910 semapv:UnspecifiedMatching MONDO:0014249 multiple fibroadenoma of the breast skos:exactMatch MEDGEN:816248 semapv:UnspecifiedMatching MONDO:0014249 multiple fibroadenoma of the breast skos:exactMatch OMIM:615554 multiple fibroadenomas of the breast semapv:UnspecifiedMatching MONDO:0014249 multiple fibroadenoma of the breast skos:exactMatch UMLS:C3809918 semapv:UnspecifiedMatching MONDO:0014250 familial hyperprolactinemia skos:exactMatch MEDGEN:1645317 semapv:UnspecifiedMatching MONDO:0014250 familial hyperprolactinemia skos:exactMatch OMIM:615555 hyperprolactinemia semapv:UnspecifiedMatching MONDO:0014250 familial hyperprolactinemia skos:exactMatch Orphanet:397685 Familial hyperprolactinemia semapv:UnspecifiedMatching MONDO:0014250 familial hyperprolactinemia skos:exactMatch SCTID:763715007 semapv:UnspecifiedMatching MONDO:0014250 familial hyperprolactinemia skos:exactMatch UMLS:C4706551 semapv:UnspecifiedMatching MONDO:0014251 melioidosis, susceptibility to skos:exactMatch MEDGEN:816255 semapv:UnspecifiedMatching MONDO:0014251 melioidosis, susceptibility to skos:exactMatch OMIM:615557 melioidosis, susceptibility to semapv:UnspecifiedMatching MONDO:0014251 melioidosis, susceptibility to skos:exactMatch UMLS:C3809925 semapv:UnspecifiedMatching MONDO:0014252 familial hypobetalipoproteinemia 1 skos:exactMatch DOID:0111062 familial hypobetalipoproteinemia 1 semapv:UnspecifiedMatching MONDO:0014252 familial hypobetalipoproteinemia 1 skos:exactMatch MEDGEN:1639219 semapv:UnspecifiedMatching MONDO:0014252 familial hypobetalipoproteinemia 1 skos:exactMatch OMIM:615558 hypobetalipoproteinemia, familial, 1 semapv:UnspecifiedMatching MONDO:0014252 familial hypobetalipoproteinemia 1 skos:exactMatch SCTID:60193003 semapv:UnspecifiedMatching MONDO:0014252 familial hypobetalipoproteinemia 1 skos:exactMatch UMLS:C4551990 semapv:UnspecifiedMatching MONDO:0014252 familial hypobetalipoproteinemia 1 skos:exactMatch mesh:C566267 semapv:UnspecifiedMatching MONDO:0014254 otofaciocervical syndrome 2 skos:exactMatch MEDGEN:1782278 semapv:UnspecifiedMatching MONDO:0014254 otofaciocervical syndrome 2 skos:exactMatch OMIM:615560 otofaciocervical syndrome 2, with t-cell deficiency semapv:UnspecifiedMatching MONDO:0014254 otofaciocervical syndrome 2 skos:exactMatch UMLS:C5442121 semapv:UnspecifiedMatching MONDO:0014255 complement factor b deficiency skos:exactMatch MEDGEN:816280 semapv:UnspecifiedMatching MONDO:0014255 complement factor b deficiency skos:exactMatch OMIM:615561 complement factor B deficiency semapv:UnspecifiedMatching MONDO:0014255 complement factor b deficiency skos:exactMatch UMLS:C3809950 semapv:UnspecifiedMatching MONDO:0014256 retinitis pigmentosa 67 skos:exactMatch DOID:0110359 retinitis pigmentosa 67 semapv:UnspecifiedMatching MONDO:0014256 retinitis pigmentosa 67 skos:exactMatch MEDGEN:816284 semapv:UnspecifiedMatching MONDO:0014256 retinitis pigmentosa 67 skos:exactMatch OMIM:615565 retinitis pigmentosa 67 semapv:UnspecifiedMatching MONDO:0014256 retinitis pigmentosa 67 skos:exactMatch UMLS:C3809954 semapv:UnspecifiedMatching MONDO:0014257 nephrotic syndrome, type 9 skos:exactMatch DOID:0080391 nephrotic syndrome type 9 semapv:UnspecifiedMatching MONDO:0014257 nephrotic syndrome, type 9 skos:exactMatch MEDGEN:816295 semapv:UnspecifiedMatching MONDO:0014257 nephrotic syndrome, type 9 skos:exactMatch OMIM:615573 nephrotic syndrome, type 9 semapv:UnspecifiedMatching MONDO:0014257 nephrotic syndrome, type 9 skos:exactMatch UMLS:C3809965 semapv:UnspecifiedMatching MONDO:0014258 congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome skos:exactMatch MEDGEN:816301 semapv:UnspecifiedMatching MONDO:0014258 congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome skos:exactMatch OMIM:615574 asparagine synthetase deficiency semapv:UnspecifiedMatching MONDO:0014258 congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome skos:exactMatch Orphanet:391376 Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome semapv:UnspecifiedMatching MONDO:0014258 congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome skos:exactMatch UMLS:C3809971 semapv:UnspecifiedMatching MONDO:0014259 neuronopathy, distal hereditary motor, type 2D skos:exactMatch DOID:0111210 autosomal dominant distal hereditary motor neuronopathy 6 semapv:UnspecifiedMatching MONDO:0014259 neuronopathy, distal hereditary motor, type 2D skos:exactMatch MEDGEN:854832 semapv:UnspecifiedMatching MONDO:0014259 neuronopathy, distal hereditary motor, type 2D skos:exactMatch OMIM:615575 neuronopathy, distal hereditary motor, autosomal dominant 6 semapv:UnspecifiedMatching MONDO:0014259 neuronopathy, distal hereditary motor, type 2D skos:exactMatch UMLS:C3888271 semapv:UnspecifiedMatching MONDO:0014260 immunodeficiency, common variable, 10 skos:exactMatch DOID:0081152 common variable immunodeficiency 10 semapv:UnspecifiedMatching MONDO:0014260 immunodeficiency, common variable, 10 skos:exactMatch MEDGEN:816321 semapv:UnspecifiedMatching MONDO:0014260 immunodeficiency, common variable, 10 skos:exactMatch OMIM:615577 immunodeficiency, common variable, 10 semapv:UnspecifiedMatching MONDO:0014260 immunodeficiency, common variable, 10 skos:exactMatch UMLS:C3809991 semapv:UnspecifiedMatching MONDO:0014261 growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome skos:exactMatch DOID:0111484 combined oxidative phosphorylation deficiency 18 semapv:UnspecifiedMatching MONDO:0014261 growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome skos:exactMatch MEDGEN:816331 semapv:UnspecifiedMatching MONDO:0014261 growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome skos:exactMatch OMIM:615578 combined oxidative phosphorylation deficiency 18 semapv:UnspecifiedMatching MONDO:0014261 growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome skos:exactMatch Orphanet:391348 Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome semapv:UnspecifiedMatching MONDO:0014261 growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome skos:exactMatch UMLS:C3810001 semapv:UnspecifiedMatching MONDO:0014262 Rienhoff syndrome skos:exactMatch DOID:0070236 Loeys-Dietz syndrome 5 semapv:UnspecifiedMatching MONDO:0014262 Rienhoff syndrome skos:exactMatch EFO:1000012 semapv:UnspecifiedMatching MONDO:0014262 Rienhoff syndrome skos:exactMatch MEDGEN:816342 semapv:UnspecifiedMatching MONDO:0014262 Rienhoff syndrome skos:exactMatch OMIM:615582 loeys-dietz syndrome 5 semapv:UnspecifiedMatching MONDO:0014262 Rienhoff syndrome skos:exactMatch UMLS:C3810012 semapv:UnspecifiedMatching MONDO:0014263 8q24.3 microdeletion syndrome skos:exactMatch MEDGEN:816353 semapv:UnspecifiedMatching MONDO:0014263 8q24.3 microdeletion syndrome skos:exactMatch OMIM:615583 verheij syndrome semapv:UnspecifiedMatching MONDO:0014263 8q24.3 microdeletion syndrome skos:exactMatch Orphanet:508488 8q24.3 microdeletion syndrome semapv:UnspecifiedMatching MONDO:0014263 8q24.3 microdeletion syndrome skos:exactMatch UMLS:C3810023 semapv:UnspecifiedMatching MONDO:0014264 otosclerosis 10 skos:exactMatch DOID:0060927 otosclerosis 10 semapv:UnspecifiedMatching MONDO:0014264 otosclerosis 10 skos:exactMatch MEDGEN:854867 semapv:UnspecifiedMatching MONDO:0014264 otosclerosis 10 skos:exactMatch OMIM:615589 otosclerosis 10 semapv:UnspecifiedMatching MONDO:0014264 otosclerosis 10 skos:exactMatch UMLS:C3888339 semapv:UnspecifiedMatching MONDO:0014265 Alzheimer disease 18 skos:exactMatch DOID:0110050 Alzheimer's disease 18 semapv:UnspecifiedMatching MONDO:0014265 Alzheimer disease 18 skos:exactMatch MEDGEN:816371 semapv:UnspecifiedMatching MONDO:0014265 Alzheimer disease 18 skos:exactMatch OMIM:615590 alzheimer disease 18 semapv:UnspecifiedMatching MONDO:0014265 Alzheimer disease 18 skos:exactMatch UMLS:C3810041 semapv:UnspecifiedMatching MONDO:0014266 age related macular degeneration 15 skos:exactMatch DOID:0110027 age related macular degeneration 15 semapv:UnspecifiedMatching MONDO:0014266 age related macular degeneration 15 skos:exactMatch MEDGEN:816372 semapv:UnspecifiedMatching MONDO:0014266 age related macular degeneration 15 skos:exactMatch OMIM:615591 macular degeneration, age-related, 15 semapv:UnspecifiedMatching MONDO:0014266 age related macular degeneration 15 skos:exactMatch UMLS:C3810042 semapv:UnspecifiedMatching MONDO:0014267 severe combined immunodeficiency due to IKK2 deficiency skos:exactMatch DOID:0111959 immunodeficiency 15B semapv:UnspecifiedMatching MONDO:0014267 severe combined immunodeficiency due to IKK2 deficiency skos:exactMatch MEDGEN:1648569 semapv:UnspecifiedMatching MONDO:0014267 severe combined immunodeficiency due to IKK2 deficiency skos:exactMatch OMIM:615592 immunodeficiency 15b semapv:UnspecifiedMatching MONDO:0014267 severe combined immunodeficiency due to IKK2 deficiency skos:exactMatch Orphanet:397787 Combined immunodeficiency due to IKBKB deficiency semapv:UnspecifiedMatching MONDO:0014267 severe combined immunodeficiency due to IKK2 deficiency skos:exactMatch UMLS:C4747743 semapv:UnspecifiedMatching MONDO:0014268 combined immunodeficiency due to OX40 deficiency skos:exactMatch DOID:0111935 immunodeficiency 16 semapv:UnspecifiedMatching MONDO:0014268 combined immunodeficiency due to OX40 deficiency skos:exactMatch MEDGEN:816383 semapv:UnspecifiedMatching MONDO:0014268 combined immunodeficiency due to OX40 deficiency skos:exactMatch OMIM:615593 immunodeficiency 16 semapv:UnspecifiedMatching MONDO:0014268 combined immunodeficiency due to OX40 deficiency skos:exactMatch Orphanet:431149 Combined immunodeficiency due to OX40 deficiency semapv:UnspecifiedMatching MONDO:0014268 combined immunodeficiency due to OX40 deficiency skos:exactMatch SCTID:766879006 semapv:UnspecifiedMatching MONDO:0014268 combined immunodeficiency due to OX40 deficiency skos:exactMatch UMLS:C3810053 semapv:UnspecifiedMatching MONDO:0014269 combined oxidative phosphorylation deficiency 19 skos:exactMatch DOID:0111476 combined oxidative phosphorylation deficiency 19 semapv:UnspecifiedMatching MONDO:0014269 combined oxidative phosphorylation deficiency 19 skos:exactMatch MEDGEN:816385 semapv:UnspecifiedMatching MONDO:0014269 combined oxidative phosphorylation deficiency 19 skos:exactMatch OMIM:615595 combined oxidative phosphorylation deficiency 19 semapv:UnspecifiedMatching MONDO:0014269 combined oxidative phosphorylation deficiency 19 skos:exactMatch UMLS:C3810055 semapv:UnspecifiedMatching MONDO:0014270 STT3A-congenital disorder of glycosylation skos:exactMatch DOID:0080572 congenital disorder of glycosylation Iw semapv:UnspecifiedMatching MONDO:0014270 STT3A-congenital disorder of glycosylation skos:exactMatch MEDGEN:1794145 semapv:UnspecifiedMatching MONDO:0014270 STT3A-congenital disorder of glycosylation skos:exactMatch OMIM:615596 congenital disorder of glycosylation, type iw, autosomal recessive semapv:UnspecifiedMatching MONDO:0014270 STT3A-congenital disorder of glycosylation skos:exactMatch Orphanet:370921 STT3A-CDG semapv:UnspecifiedMatching MONDO:0014270 STT3A-congenital disorder of glycosylation skos:exactMatch SCTID:733111000 semapv:UnspecifiedMatching MONDO:0014270 STT3A-congenital disorder of glycosylation skos:exactMatch UMLS:C5561935 semapv:UnspecifiedMatching MONDO:0014271 STT3B-congenital disorder of glycosylation skos:exactMatch DOID:0080573 congenital disorder of glycosylation Ix semapv:UnspecifiedMatching MONDO:0014271 STT3B-congenital disorder of glycosylation skos:exactMatch MEDGEN:419309 semapv:UnspecifiedMatching MONDO:0014271 STT3B-congenital disorder of glycosylation skos:exactMatch OMIM:615597 congenital disorder of glycosylation, type ix semapv:UnspecifiedMatching MONDO:0014271 STT3B-congenital disorder of glycosylation skos:exactMatch Orphanet:370924 STT3B-CDG semapv:UnspecifiedMatching MONDO:0014271 STT3B-congenital disorder of glycosylation skos:exactMatch SCTID:733112007 semapv:UnspecifiedMatching MONDO:0014271 STT3B-congenital disorder of glycosylation skos:exactMatch UMLS:C2931007 semapv:UnspecifiedMatching MONDO:0014271 STT3B-congenital disorder of glycosylation skos:exactMatch mesh:C535751 semapv:UnspecifiedMatching MONDO:0014272 palmoplantar keratoderma, Nagashima type skos:exactMatch DOID:0070555 Nagashima-type palmoplantar keratosis semapv:UnspecifiedMatching MONDO:0014272 palmoplantar keratoderma, Nagashima type skos:exactMatch MEDGEN:816402 semapv:UnspecifiedMatching MONDO:0014272 palmoplantar keratoderma, Nagashima type skos:exactMatch OMIM:615598 palmoplantar keratoderma, nagashima type semapv:UnspecifiedMatching MONDO:0014272 palmoplantar keratoderma, Nagashima type skos:exactMatch Orphanet:140966 Palmoplantar keratoderma, Nagashima type semapv:UnspecifiedMatching MONDO:0014272 palmoplantar keratoderma, Nagashima type skos:exactMatch SCTID:722205008 semapv:UnspecifiedMatching MONDO:0014272 palmoplantar keratoderma, Nagashima type skos:exactMatch UMLS:C3810072 semapv:UnspecifiedMatching MONDO:0014273 microcephaly-thin corpus callosum-intellectual disability syndrome skos:exactMatch DOID:0081205 autosomal recessive intellectual developmental disorder 40 semapv:UnspecifiedMatching MONDO:0014273 microcephaly-thin corpus callosum-intellectual disability syndrome skos:exactMatch MEDGEN:816410 semapv:UnspecifiedMatching MONDO:0014273 microcephaly-thin corpus callosum-intellectual disability syndrome skos:exactMatch OMIM:615599 neurodevelopmental disorder with feeding difficulties, thin corpus callosum, and foot deformity semapv:UnspecifiedMatching MONDO:0014273 microcephaly-thin corpus callosum-intellectual disability syndrome skos:exactMatch Orphanet:397951 Microcephaly-thin corpus callosum-intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0014273 microcephaly-thin corpus callosum-intellectual disability syndrome skos:exactMatch UMLS:C3810080 semapv:UnspecifiedMatching MONDO:0014274 L-ferritin deficiency skos:exactMatch MEDGEN:816420 semapv:UnspecifiedMatching MONDO:0014274 L-ferritin deficiency skos:exactMatch OMIM:615604 l-ferritin deficiency semapv:UnspecifiedMatching MONDO:0014274 L-ferritin deficiency skos:exactMatch Orphanet:440731 L-ferritin deficiency semapv:UnspecifiedMatching MONDO:0014274 L-ferritin deficiency skos:exactMatch UMLS:C3810090 semapv:UnspecifiedMatching MONDO:0014275 Fanconi renotubular syndrome 3 skos:exactMatch DOID:0080759 Fanconi renotubular syndrome 3 semapv:UnspecifiedMatching MONDO:0014275 Fanconi renotubular syndrome 3 skos:exactMatch MEDGEN:816430 semapv:UnspecifiedMatching MONDO:0014275 Fanconi renotubular syndrome 3 skos:exactMatch OMIM:615605 fanconi renotubular syndrome 3 semapv:UnspecifiedMatching MONDO:0014275 Fanconi renotubular syndrome 3 skos:exactMatch UMLS:C3810100 semapv:UnspecifiedMatching MONDO:0014276 combined immunodeficiency due to CD3gamma deficiency skos:exactMatch DOID:0060018 CD3gamma deficiency semapv:UnspecifiedMatching MONDO:0014276 combined immunodeficiency due to CD3gamma deficiency skos:exactMatch DOID:0111973 immunodeficiency 17 semapv:UnspecifiedMatching MONDO:0014276 combined immunodeficiency due to CD3gamma deficiency skos:exactMatch MEDGEN:816437 semapv:UnspecifiedMatching MONDO:0014276 combined immunodeficiency due to CD3gamma deficiency skos:exactMatch OMIM:615607 immunodeficiency 17 semapv:UnspecifiedMatching MONDO:0014276 combined immunodeficiency due to CD3gamma deficiency skos:exactMatch Orphanet:169082 Combined immunodeficiency due to CD3gamma deficiency semapv:UnspecifiedMatching MONDO:0014276 combined immunodeficiency due to CD3gamma deficiency skos:exactMatch SCTID:725135004 semapv:UnspecifiedMatching MONDO:0014276 combined immunodeficiency due to CD3gamma deficiency skos:exactMatch UMLS:C3810107 semapv:UnspecifiedMatching MONDO:0014277 developmental dysplasia of the hip 2 skos:exactMatch DOID:0060932 developmental dysplasia of the hip 2 semapv:UnspecifiedMatching MONDO:0014277 developmental dysplasia of the hip 2 skos:exactMatch MEDGEN:811575 semapv:UnspecifiedMatching MONDO:0014277 developmental dysplasia of the hip 2 skos:exactMatch OMIM:615612 developmental dysplasia of the hip 2 semapv:UnspecifiedMatching MONDO:0014277 developmental dysplasia of the hip 2 skos:exactMatch UMLS:C3715079 semapv:UnspecifiedMatching MONDO:0014278 immunodeficiency 18 skos:exactMatch DOID:0060017 CD3epsilon deficiency semapv:UnspecifiedMatching MONDO:0014278 immunodeficiency 18 skos:exactMatch DOID:0111971 immunodeficiency 18 semapv:UnspecifiedMatching MONDO:0014278 immunodeficiency 18 skos:exactMatch MEDGEN:816457 semapv:UnspecifiedMatching MONDO:0014278 immunodeficiency 18 skos:exactMatch OMIM:615615 immunodeficiency 18 semapv:UnspecifiedMatching MONDO:0014278 immunodeficiency 18 skos:exactMatch UMLS:C3810127 semapv:UnspecifiedMatching MONDO:0014280 immunodeficiency 19 skos:exactMatch DOID:0060016 CD3delta deficiency semapv:UnspecifiedMatching MONDO:0014280 immunodeficiency 19 skos:exactMatch DOID:0111972 immunodeficiency 19 semapv:UnspecifiedMatching MONDO:0014280 immunodeficiency 19 skos:exactMatch MEDGEN:816477 semapv:UnspecifiedMatching MONDO:0014280 immunodeficiency 19 skos:exactMatch OMIM:615617 immunodeficiency 19, severe combined semapv:UnspecifiedMatching MONDO:0014280 immunodeficiency 19 skos:exactMatch UMLS:C3810147 semapv:UnspecifiedMatching MONDO:0014281 cholangiocarcinoma, susceptibility to skos:exactMatch MEDGEN:816486 semapv:UnspecifiedMatching MONDO:0014281 cholangiocarcinoma, susceptibility to skos:exactMatch OMIM:615619 cholangiocarcinoma, susceptibility to semapv:UnspecifiedMatching MONDO:0014281 cholangiocarcinoma, susceptibility to skos:exactMatch UMLS:C3810156 semapv:UnspecifiedMatching MONDO:0014282 hereditary spastic paraplegia 72 skos:exactMatch DOID:0110817 hereditary spastic paraplegia 72A semapv:UnspecifiedMatching MONDO:0014282 hereditary spastic paraplegia 72 skos:exactMatch MEDGEN:1847422 semapv:UnspecifiedMatching MONDO:0014282 hereditary spastic paraplegia 72 skos:exactMatch OMIM:615625 spastic paraplegia 72a, autosomal dominant semapv:UnspecifiedMatching MONDO:0014282 hereditary spastic paraplegia 72 skos:exactMatch Orphanet:401849 Autosomal spastic paraplegia type 72 semapv:UnspecifiedMatching MONDO:0014282 hereditary spastic paraplegia 72 skos:exactMatch UMLS:C5882669 semapv:UnspecifiedMatching MONDO:0014283 autosomal dominant nonsyndromic hearing loss 56 skos:exactMatch DOID:0110581 autosomal dominant nonsyndromic deafness 56 semapv:UnspecifiedMatching MONDO:0014283 autosomal dominant nonsyndromic hearing loss 56 skos:exactMatch MEDGEN:816500 semapv:UnspecifiedMatching MONDO:0014283 autosomal dominant nonsyndromic hearing loss 56 skos:exactMatch OMIM:615629 deafness, autosomal dominant 56 semapv:UnspecifiedMatching MONDO:0014283 autosomal dominant nonsyndromic hearing loss 56 skos:exactMatch UMLS:C3810170 semapv:UnspecifiedMatching MONDO:0014284 short-rib thoracic dysplasia 10 with or without polydactyly skos:exactMatch DOID:0110091 short-rib thoracic dysplasia 10 with or without polydactyly semapv:UnspecifiedMatching MONDO:0014284 short-rib thoracic dysplasia 10 with or without polydactyly skos:exactMatch MEDGEN:816505 semapv:UnspecifiedMatching MONDO:0014284 short-rib thoracic dysplasia 10 with or without polydactyly skos:exactMatch OMIM:615630 short-rib thoracic dysplasia 10 with or without polydactyly semapv:UnspecifiedMatching MONDO:0014284 short-rib thoracic dysplasia 10 with or without polydactyly skos:exactMatch UMLS:C3810175 semapv:UnspecifiedMatching MONDO:0014285 congenital dyserythropoietic anemia type type 1B skos:exactMatch DOID:0111397 congenital dyserythropoietic anemia type Ib semapv:UnspecifiedMatching MONDO:0014285 congenital dyserythropoietic anemia type type 1B skos:exactMatch MEDGEN:816515 semapv:UnspecifiedMatching MONDO:0014285 congenital dyserythropoietic anemia type type 1B skos:exactMatch OMIM:615631 anemia, congenital dyserythropoietic, type ib semapv:UnspecifiedMatching MONDO:0014285 congenital dyserythropoietic anemia type type 1B skos:exactMatch UMLS:C3810185 semapv:UnspecifiedMatching MONDO:0014286 neuropathy, hereditary sensory, type 1F skos:exactMatch DOID:0070154 hereditary sensory neuropathy type 1F semapv:UnspecifiedMatching MONDO:0014286 neuropathy, hereditary sensory, type 1F skos:exactMatch MEDGEN:816524 semapv:UnspecifiedMatching MONDO:0014286 neuropathy, hereditary sensory, type 1F skos:exactMatch OMIM:615632 neuropathy, hereditary sensory, type 1f semapv:UnspecifiedMatching MONDO:0014286 neuropathy, hereditary sensory, type 1F skos:exactMatch UMLS:C3810194 semapv:UnspecifiedMatching MONDO:0014287 short-rib thoracic dysplasia 11 with or without polydactyly skos:exactMatch DOID:0110095 short-rib thoracic dysplasia 11 with or without polydactyly semapv:UnspecifiedMatching MONDO:0014287 short-rib thoracic dysplasia 11 with or without polydactyly skos:exactMatch MEDGEN:816530 semapv:UnspecifiedMatching MONDO:0014287 short-rib thoracic dysplasia 11 with or without polydactyly skos:exactMatch OMIM:615633 short-rib thoracic dysplasia 11 with or without polydactyly semapv:UnspecifiedMatching MONDO:0014287 short-rib thoracic dysplasia 11 with or without polydactyly skos:exactMatch UMLS:C3810200 semapv:UnspecifiedMatching MONDO:0014288 Joubert syndrome 21 skos:exactMatch DOID:0110990 Joubert syndrome 21 semapv:UnspecifiedMatching MONDO:0014288 Joubert syndrome 21 skos:exactMatch MEDGEN:816542 semapv:UnspecifiedMatching MONDO:0014288 Joubert syndrome 21 skos:exactMatch OMIM:615636 joubert syndrome 21 semapv:UnspecifiedMatching MONDO:0014288 Joubert syndrome 21 skos:exactMatch UMLS:C3810212 semapv:UnspecifiedMatching MONDO:0014289 macrocephaly-developmental delay syndrome skos:exactMatch DOID:0081206 autosomal recessive intellectual developmental disorder 41 semapv:UnspecifiedMatching MONDO:0014289 macrocephaly-developmental delay syndrome skos:exactMatch MEDGEN:816555 semapv:UnspecifiedMatching MONDO:0014289 macrocephaly-developmental delay syndrome skos:exactMatch OMIM:615637 intellectual developmental disorder, autosomal recessive 41 semapv:UnspecifiedMatching MONDO:0014289 macrocephaly-developmental delay syndrome skos:exactMatch Orphanet:397612 Macrocephaly-developmental delay syndrome semapv:UnspecifiedMatching MONDO:0014289 macrocephaly-developmental delay syndrome skos:exactMatch UMLS:C3810225 semapv:UnspecifiedMatching MONDO:0014290 neurodegeneration with brain iron accumulation 6 skos:exactMatch DOID:0110740 neurodegeneration with brain iron accumulation 6 semapv:UnspecifiedMatching MONDO:0014290 neurodegeneration with brain iron accumulation 6 skos:exactMatch MEDGEN:1387791 semapv:UnspecifiedMatching MONDO:0014290 neurodegeneration with brain iron accumulation 6 skos:exactMatch OMIM:615643 neurodegeneration with brain iron accumulation 6 semapv:UnspecifiedMatching MONDO:0014290 neurodegeneration with brain iron accumulation 6 skos:exactMatch Orphanet:397725 COASY protein-associated neurodegeneration semapv:UnspecifiedMatching MONDO:0014290 neurodegeneration with brain iron accumulation 6 skos:exactMatch SCTID:732264002 semapv:UnspecifiedMatching MONDO:0014290 neurodegeneration with brain iron accumulation 6 skos:exactMatch UMLS:C4517377 semapv:UnspecifiedMatching MONDO:0014291 autosomal dominant nonsyndromic hearing loss 54 skos:exactMatch DOID:0110580 autosomal dominant nonsyndromic deafness 54 semapv:UnspecifiedMatching MONDO:0014291 autosomal dominant nonsyndromic hearing loss 54 skos:exactMatch MEDGEN:854731 semapv:UnspecifiedMatching MONDO:0014291 autosomal dominant nonsyndromic hearing loss 54 skos:exactMatch OMIM:615649 deafness, autosomal dominant 54 semapv:UnspecifiedMatching MONDO:0014291 autosomal dominant nonsyndromic hearing loss 54 skos:exactMatch UMLS:C3888029 semapv:UnspecifiedMatching MONDO:0014292 leukoencephalopathy with mild cerebellar ataxia and white matter edema skos:exactMatch MEDGEN:1638681 semapv:UnspecifiedMatching MONDO:0014292 leukoencephalopathy with mild cerebellar ataxia and white matter edema skos:exactMatch NCIT:C171603 Leukoencephalopathy with Ataxia semapv:UnspecifiedMatching MONDO:0014292 leukoencephalopathy with mild cerebellar ataxia and white matter edema skos:exactMatch OMIM:615651 leukoencephalopathy with ataxia semapv:UnspecifiedMatching MONDO:0014292 leukoencephalopathy with mild cerebellar ataxia and white matter edema skos:exactMatch Orphanet:363540 Leukoencephalopathy with mild cerebellar ataxia and white matter edema semapv:UnspecifiedMatching MONDO:0014292 leukoencephalopathy with mild cerebellar ataxia and white matter edema skos:exactMatch SCTID:768663003 semapv:UnspecifiedMatching MONDO:0014292 leukoencephalopathy with mild cerebellar ataxia and white matter edema skos:exactMatch UMLS:C4554120 semapv:UnspecifiedMatching MONDO:0014293 autosomal dominant nonsyndromic hearing loss 58 skos:exactMatch DOID:0110582 autosomal dominant nonsyndromic deafness 58 semapv:UnspecifiedMatching MONDO:0014293 autosomal dominant nonsyndromic hearing loss 58 skos:exactMatch MEDGEN:854817 semapv:UnspecifiedMatching MONDO:0014293 autosomal dominant nonsyndromic hearing loss 58 skos:exactMatch OMIM:615654 deafness, autosomal dominant 58 semapv:UnspecifiedMatching MONDO:0014293 autosomal dominant nonsyndromic hearing loss 58 skos:exactMatch UMLS:C3888210 semapv:UnspecifiedMatching MONDO:0014294 chromosome 15q11.2 deletion syndrome skos:exactMatch DOID:0060393 chromosome 15q11.2 deletion syndrome semapv:UnspecifiedMatching MONDO:0014294 chromosome 15q11.2 deletion syndrome skos:exactMatch MEDGEN:467404 semapv:UnspecifiedMatching MONDO:0014294 chromosome 15q11.2 deletion syndrome skos:exactMatch OMIM:615656 chromosome 15q11.2 deletion syndrome semapv:UnspecifiedMatching MONDO:0014294 chromosome 15q11.2 deletion syndrome skos:exactMatch Orphanet:261183 15q11.2 microdeletion syndrome semapv:UnspecifiedMatching MONDO:0014294 chromosome 15q11.2 deletion syndrome skos:exactMatch UMLS:C3180937 semapv:UnspecifiedMatching MONDO:0014295 hereditary spastic paraplegia 57 skos:exactMatch DOID:0110809 hereditary spastic paraplegia 57 semapv:UnspecifiedMatching MONDO:0014295 hereditary spastic paraplegia 57 skos:exactMatch MEDGEN:811490 semapv:UnspecifiedMatching MONDO:0014295 hereditary spastic paraplegia 57 skos:exactMatch OMIM:615658 spastic paraplegia 57, autosomal recessive semapv:UnspecifiedMatching MONDO:0014295 hereditary spastic paraplegia 57 skos:exactMatch Orphanet:431329 Autosomal recessive spastic paraplegia type 57 semapv:UnspecifiedMatching MONDO:0014295 hereditary spastic paraplegia 57 skos:exactMatch SCTID:723826007 semapv:UnspecifiedMatching MONDO:0014295 hereditary spastic paraplegia 57 skos:exactMatch UMLS:C3714897 semapv:UnspecifiedMatching MONDO:0014296 Warburg micro syndrome 4 skos:exactMatch DOID:0110719 Warburg micro syndrome 4 semapv:UnspecifiedMatching MONDO:0014296 Warburg micro syndrome 4 skos:exactMatch MEDGEN:816595 semapv:UnspecifiedMatching MONDO:0014296 Warburg micro syndrome 4 skos:exactMatch OMIM:615663 warburg micro syndrome 4 semapv:UnspecifiedMatching MONDO:0014296 Warburg micro syndrome 4 skos:exactMatch UMLS:C3810265 semapv:UnspecifiedMatching MONDO:0014297 Joubert syndrome 22 skos:exactMatch DOID:0110991 Joubert syndrome 22 semapv:UnspecifiedMatching MONDO:0014297 Joubert syndrome 22 skos:exactMatch MEDGEN:816608 semapv:UnspecifiedMatching MONDO:0014297 Joubert syndrome 22 skos:exactMatch OMIM:615665 joubert syndrome 22 semapv:UnspecifiedMatching MONDO:0014297 Joubert syndrome 22 skos:exactMatch UMLS:C3810278 semapv:UnspecifiedMatching MONDO:0014298 chromosome 5q12 deletion syndrome skos:exactMatch DOID:0060421 chromosome 5q12 deletion syndrome semapv:UnspecifiedMatching MONDO:0014298 chromosome 5q12 deletion syndrome skos:exactMatch MEDGEN:816612 semapv:UnspecifiedMatching MONDO:0014298 chromosome 5q12 deletion syndrome skos:exactMatch OMIM:615668 chromosome 5q12 deletion syndrome semapv:UnspecifiedMatching MONDO:0014298 chromosome 5q12 deletion syndrome skos:exactMatch Orphanet:439822 PDE4D haploinsufficiency syndrome semapv:UnspecifiedMatching MONDO:0014298 chromosome 5q12 deletion syndrome skos:exactMatch UMLS:C3810282 semapv:UnspecifiedMatching MONDO:0014299 LZTR1-related schwannomatosis skos:exactMatch DOID:0070481 schwannomatosis 2 semapv:UnspecifiedMatching MONDO:0014299 LZTR1-related schwannomatosis skos:exactMatch MEDGEN:816613 semapv:UnspecifiedMatching MONDO:0014299 LZTR1-related schwannomatosis skos:exactMatch NCIT:C186704 LZTR1 Schwannomatosis 2 semapv:UnspecifiedMatching MONDO:0014299 LZTR1-related schwannomatosis skos:exactMatch OMIM:615670 schwannomatosis 2 semapv:UnspecifiedMatching MONDO:0014299 LZTR1-related schwannomatosis skos:exactMatch UMLS:C3810283 semapv:UnspecifiedMatching MONDO:0014300 proximal myopathy with extrapyramidal signs skos:exactMatch DOID:0111335 myopathy with extrapyramidal signs semapv:UnspecifiedMatching MONDO:0014300 proximal myopathy with extrapyramidal signs skos:exactMatch MEDGEN:816615 semapv:UnspecifiedMatching MONDO:0014300 proximal myopathy with extrapyramidal signs skos:exactMatch OMIM:615673 myopathy with extrapyramidal signs semapv:UnspecifiedMatching MONDO:0014300 proximal myopathy with extrapyramidal signs skos:exactMatch Orphanet:401768 Proximal myopathy with extrapyramidal signs semapv:UnspecifiedMatching MONDO:0014300 proximal myopathy with extrapyramidal signs skos:exactMatch UMLS:C3810285 semapv:UnspecifiedMatching MONDO:0014301 dowling-degos disease 3 skos:exactMatch MEDGEN:816616 semapv:UnspecifiedMatching MONDO:0014301 dowling-degos disease 3 skos:exactMatch OMIM:615674 dowling-degos disease 3 semapv:UnspecifiedMatching MONDO:0014301 dowling-degos disease 3 skos:exactMatch UMLS:C3810286 semapv:UnspecifiedMatching MONDO:0014302 hereditary spastic paraplegia 62 skos:exactMatch DOID:0110813 hereditary spastic paraplegia 62 semapv:UnspecifiedMatching MONDO:0014302 hereditary spastic paraplegia 62 skos:exactMatch MEDGEN:924879 semapv:UnspecifiedMatching MONDO:0014302 hereditary spastic paraplegia 62 skos:exactMatch OMIM:615681 spastic paraplegia 62, autosomal recessive semapv:UnspecifiedMatching MONDO:0014302 hereditary spastic paraplegia 62 skos:exactMatch Orphanet:401785 Autosomal recessive spastic paraplegia type 62 semapv:UnspecifiedMatching MONDO:0014302 hereditary spastic paraplegia 62 skos:exactMatch SCTID:765045003 semapv:UnspecifiedMatching MONDO:0014302 hereditary spastic paraplegia 62 skos:exactMatch UMLS:C4284588 semapv:UnspecifiedMatching MONDO:0014303 hereditary spastic paraplegia 64 skos:exactMatch DOID:0110815 hereditary spastic paraplegia 64 semapv:UnspecifiedMatching MONDO:0014303 hereditary spastic paraplegia 64 skos:exactMatch MEDGEN:816619 semapv:UnspecifiedMatching MONDO:0014303 hereditary spastic paraplegia 64 skos:exactMatch OMIM:615683 spastic paraplegia 64, autosomal recessive semapv:UnspecifiedMatching MONDO:0014303 hereditary spastic paraplegia 64 skos:exactMatch Orphanet:401810 Autosomal recessive spastic paraplegia type 64 semapv:UnspecifiedMatching MONDO:0014303 hereditary spastic paraplegia 64 skos:exactMatch SCTID:726609005 semapv:UnspecifiedMatching MONDO:0014303 hereditary spastic paraplegia 64 skos:exactMatch UMLS:C3810289 semapv:UnspecifiedMatching MONDO:0014304 hereditary spastic paraplegia 61 skos:exactMatch DOID:0110812 hereditary spastic paraplegia 61 semapv:UnspecifiedMatching MONDO:0014304 hereditary spastic paraplegia 61 skos:exactMatch MEDGEN:816624 semapv:UnspecifiedMatching MONDO:0014304 hereditary spastic paraplegia 61 skos:exactMatch OMIM:615685 spastic paraplegia 61, autosomal recessive semapv:UnspecifiedMatching MONDO:0014304 hereditary spastic paraplegia 61 skos:exactMatch Orphanet:401780 Autosomal recessive spastic paraplegia type 61 semapv:UnspecifiedMatching MONDO:0014304 hereditary spastic paraplegia 61 skos:exactMatch SCTID:726611001 semapv:UnspecifiedMatching MONDO:0014304 hereditary spastic paraplegia 61 skos:exactMatch UMLS:C3810294 semapv:UnspecifiedMatching MONDO:0014305 hereditary spastic paraplegia 63 skos:exactMatch DOID:0110814 hereditary spastic paraplegia 63 semapv:UnspecifiedMatching MONDO:0014305 hereditary spastic paraplegia 63 skos:exactMatch MEDGEN:816625 semapv:UnspecifiedMatching MONDO:0014305 hereditary spastic paraplegia 63 skos:exactMatch OMIM:615686 spastic paraplegia 63, autosomal recessive semapv:UnspecifiedMatching MONDO:0014305 hereditary spastic paraplegia 63 skos:exactMatch Orphanet:401805 Autosomal recessive spastic paraplegia type 63 semapv:UnspecifiedMatching MONDO:0014305 hereditary spastic paraplegia 63 skos:exactMatch SCTID:726610000 semapv:UnspecifiedMatching MONDO:0014305 hereditary spastic paraplegia 63 skos:exactMatch UMLS:C3810295 semapv:UnspecifiedMatching MONDO:0014306 deficiency of adenosine deaminase 2 skos:exactMatch MEDGEN:854497 semapv:UnspecifiedMatching MONDO:0014306 deficiency of adenosine deaminase 2 skos:exactMatch OMIM:615688 vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome semapv:UnspecifiedMatching MONDO:0014306 deficiency of adenosine deaminase 2 skos:exactMatch Orphanet:404553 Deficiency of adenosine deaminase 2 semapv:UnspecifiedMatching MONDO:0014306 deficiency of adenosine deaminase 2 skos:exactMatch UMLS:C3887654 semapv:UnspecifiedMatching MONDO:0014307 Dowling-Degos disease 4 skos:exactMatch MEDGEN:816643 semapv:UnspecifiedMatching MONDO:0014307 Dowling-Degos disease 4 skos:exactMatch OMIM:615696 dowling-degos disease 4 semapv:UnspecifiedMatching MONDO:0014307 Dowling-Degos disease 4 skos:exactMatch UMLS:C3810313 semapv:UnspecifiedMatching MONDO:0014308 familial temporal lobe epilepsy 6 skos:exactMatch DOID:0060749 familial temporal lobe epilepsy 6 semapv:UnspecifiedMatching MONDO:0014308 familial temporal lobe epilepsy 6 skos:exactMatch MEDGEN:816650 semapv:UnspecifiedMatching MONDO:0014308 familial temporal lobe epilepsy 6 skos:exactMatch OMIM:615697 epilepsy, familial temporal lobe, 6 semapv:UnspecifiedMatching MONDO:0014308 familial temporal lobe epilepsy 6 skos:exactMatch UMLS:C3810320 semapv:UnspecifiedMatching MONDO:0014309 obesity due to CEP19 deficiency skos:exactMatch MEDGEN:816654 semapv:UnspecifiedMatching MONDO:0014309 obesity due to CEP19 deficiency skos:exactMatch OMIM:615703 morbid obesity and spermatogenic failure semapv:UnspecifiedMatching MONDO:0014309 obesity due to CEP19 deficiency skos:exactMatch Orphanet:397615 Obesity due to CEP19 deficiency semapv:UnspecifiedMatching MONDO:0014309 obesity due to CEP19 deficiency skos:exactMatch UMLS:C3810324 semapv:UnspecifiedMatching MONDO:0014310 hereditary sclerosing poikiloderma with tendon and pulmonary involvement skos:exactMatch MEDGEN:816655 semapv:UnspecifiedMatching MONDO:0014310 hereditary sclerosing poikiloderma with tendon and pulmonary involvement skos:exactMatch OMIM:615704 poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis semapv:UnspecifiedMatching MONDO:0014310 hereditary sclerosing poikiloderma with tendon and pulmonary involvement skos:exactMatch Orphanet:221043 Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome semapv:UnspecifiedMatching MONDO:0014310 hereditary sclerosing poikiloderma with tendon and pulmonary involvement skos:exactMatch UMLS:C3810325 semapv:UnspecifiedMatching MONDO:0014310 hereditary sclerosing poikiloderma with tendon and pulmonary involvement skos:exactMatch icd11.foundation:1585528459 Hereditary sclerosing poikiloderma with tendon and pulmonary involvement semapv:UnspecifiedMatching MONDO:0014311 autosomal recessive spinocerebellar ataxia 15 skos:exactMatch DOID:0080057 autosomal recessive spinocerebellar ataxia 15 semapv:UnspecifiedMatching MONDO:0014311 autosomal recessive spinocerebellar ataxia 15 skos:exactMatch MEDGEN:816656 semapv:UnspecifiedMatching MONDO:0014311 autosomal recessive spinocerebellar ataxia 15 skos:exactMatch OMIM:615705 spinocerebellar ataxia, autosomal recessive 15 semapv:UnspecifiedMatching MONDO:0014311 autosomal recessive spinocerebellar ataxia 15 skos:exactMatch Orphanet:404499 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency semapv:UnspecifiedMatching MONDO:0014311 autosomal recessive spinocerebellar ataxia 15 skos:exactMatch UMLS:C3810326 semapv:UnspecifiedMatching MONDO:0014312 auriculocondylar syndrome 3 skos:exactMatch MEDGEN:816662 semapv:UnspecifiedMatching MONDO:0014312 auriculocondylar syndrome 3 skos:exactMatch OMIM:615706 auriculocondylar syndrome 3 semapv:UnspecifiedMatching MONDO:0014312 auriculocondylar syndrome 3 skos:exactMatch UMLS:C3810332 semapv:UnspecifiedMatching MONDO:0014313 autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity skos:exactMatch DOID:0111941 immunodeficiency 20 semapv:UnspecifiedMatching MONDO:0014313 autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity skos:exactMatch MEDGEN:816672 semapv:UnspecifiedMatching MONDO:0014313 autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity skos:exactMatch OMIM:615707 immunodeficiency 20 semapv:UnspecifiedMatching MONDO:0014313 autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity skos:exactMatch Orphanet:437552 Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity semapv:UnspecifiedMatching MONDO:0014313 autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity skos:exactMatch UMLS:C3810342 semapv:UnspecifiedMatching MONDO:0014314 sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome skos:exactMatch MEDGEN:816673 semapv:UnspecifiedMatching MONDO:0014314 sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome skos:exactMatch OMIM:615709 sacral agenesis with vertebral anomalies semapv:UnspecifiedMatching MONDO:0014314 sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome skos:exactMatch Orphanet:397927 Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome semapv:UnspecifiedMatching MONDO:0014314 sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome skos:exactMatch UMLS:C3810343 semapv:UnspecifiedMatching MONDO:0014316 Alzheimer disease 19 skos:exactMatch DOID:0110051 Alzheimer's disease 19 semapv:UnspecifiedMatching MONDO:0014316 Alzheimer disease 19 skos:exactMatch MEDGEN:816679 semapv:UnspecifiedMatching MONDO:0014316 Alzheimer disease 19 skos:exactMatch OMIM:615711 alzheimer disease 19 semapv:UnspecifiedMatching MONDO:0014316 Alzheimer disease 19 skos:exactMatch UMLS:C3810349 semapv:UnspecifiedMatching MONDO:0014317 pancytopenia-developmental delay syndrome skos:exactMatch MEDGEN:816680 semapv:UnspecifiedMatching MONDO:0014317 pancytopenia-developmental delay syndrome skos:exactMatch OMIM:615715 bone marrow failure syndrome 2 semapv:UnspecifiedMatching MONDO:0014317 pancytopenia-developmental delay syndrome skos:exactMatch Orphanet:401764 Pancytopenia-developmental delay syndrome semapv:UnspecifiedMatching MONDO:0014317 pancytopenia-developmental delay syndrome skos:exactMatch UMLS:C3810350 semapv:UnspecifiedMatching MONDO:0014318 hyperphosphatasia with intellectual disability syndrome 4 skos:exactMatch DOID:0070436 hyperphosphatasia with impaired intellectual development syndrome 4 semapv:UnspecifiedMatching MONDO:0014318 hyperphosphatasia with intellectual disability syndrome 4 skos:exactMatch MEDGEN:816684 semapv:UnspecifiedMatching MONDO:0014318 hyperphosphatasia with intellectual disability syndrome 4 skos:exactMatch OMIM:615716 hyperphosphatasia with impaired intellectual development syndrome 4 semapv:UnspecifiedMatching MONDO:0014318 hyperphosphatasia with intellectual disability syndrome 4 skos:exactMatch UMLS:C3810354 semapv:UnspecifiedMatching MONDO:0014319 renal hypodysplasia/aplasia 2 skos:exactMatch MEDGEN:816689 semapv:UnspecifiedMatching MONDO:0014319 renal hypodysplasia/aplasia 2 skos:exactMatch OMIM:615721 renal hypodysplasia/aplasia 2 semapv:UnspecifiedMatching MONDO:0014319 renal hypodysplasia/aplasia 2 skos:exactMatch UMLS:C3810359 semapv:UnspecifiedMatching MONDO:0014320 Bosch-Boonstra-Schaaf optic atrophy syndrome skos:exactMatch DOID:0112226 Bosch-Boonstra-Schaaf optic atrophy syndrome semapv:UnspecifiedMatching MONDO:0014320 Bosch-Boonstra-Schaaf optic atrophy syndrome skos:exactMatch MEDGEN:816693 semapv:UnspecifiedMatching MONDO:0014320 Bosch-Boonstra-Schaaf optic atrophy syndrome skos:exactMatch OMIM:615722 bosch-boonstra-schaaf optic atrophy syndrome semapv:UnspecifiedMatching MONDO:0014320 Bosch-Boonstra-Schaaf optic atrophy syndrome skos:exactMatch Orphanet:401777 Optic atrophy-intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0014320 Bosch-Boonstra-Schaaf optic atrophy syndrome skos:exactMatch UMLS:C3810363 semapv:UnspecifiedMatching MONDO:0014321 premature ovarian failure 8 skos:exactMatch DOID:0080865 primary ovarian insufficiency 8 semapv:UnspecifiedMatching MONDO:0014321 premature ovarian failure 8 skos:exactMatch MEDGEN:816697 semapv:UnspecifiedMatching MONDO:0014321 premature ovarian failure 8 skos:exactMatch OMIM:615723 premature ovarian failure 8 semapv:UnspecifiedMatching MONDO:0014321 premature ovarian failure 8 skos:exactMatch UMLS:C3810367 semapv:UnspecifiedMatching MONDO:0014322 premature ovarian failure 9 skos:exactMatch DOID:0080866 primary ovarian insufficiency 9 semapv:UnspecifiedMatching MONDO:0014322 premature ovarian failure 9 skos:exactMatch MEDGEN:816706 semapv:UnspecifiedMatching MONDO:0014322 premature ovarian failure 9 skos:exactMatch OMIM:615724 premature ovarian failure 9 semapv:UnspecifiedMatching MONDO:0014322 premature ovarian failure 9 skos:exactMatch UMLS:C3810376 semapv:UnspecifiedMatching MONDO:0014323 retinitis pigmentosa 68 skos:exactMatch DOID:0110374 retinitis pigmentosa 68 semapv:UnspecifiedMatching MONDO:0014323 retinitis pigmentosa 68 skos:exactMatch MEDGEN:816710 semapv:UnspecifiedMatching MONDO:0014323 retinitis pigmentosa 68 skos:exactMatch OMIM:615725 retinitis pigmentosa 68 semapv:UnspecifiedMatching MONDO:0014323 retinitis pigmentosa 68 skos:exactMatch UMLS:C3810380 semapv:UnspecifiedMatching MONDO:0014324 pachyonychia congenita 3 skos:exactMatch MEDGEN:811523 semapv:UnspecifiedMatching MONDO:0014324 pachyonychia congenita 3 skos:exactMatch OMIM:615726 pachyonychia congenita 3 semapv:UnspecifiedMatching MONDO:0014324 pachyonychia congenita 3 skos:exactMatch UMLS:C3714948 semapv:UnspecifiedMatching MONDO:0014325 pachyonychia congenita 4 skos:exactMatch MEDGEN:811524 semapv:UnspecifiedMatching MONDO:0014325 pachyonychia congenita 4 skos:exactMatch OMIM:615728 pachyonychia congenita 4 semapv:UnspecifiedMatching MONDO:0014325 pachyonychia congenita 4 skos:exactMatch UMLS:C3714949 semapv:UnspecifiedMatching MONDO:0014326 nemaline myopathy 9 skos:exactMatch DOID:0110929 nemaline myopathy 9 semapv:UnspecifiedMatching MONDO:0014326 nemaline myopathy 9 skos:exactMatch MEDGEN:816714 semapv:UnspecifiedMatching MONDO:0014326 nemaline myopathy 9 skos:exactMatch OMIM:615731 nemaline myopathy 9 semapv:UnspecifiedMatching MONDO:0014326 nemaline myopathy 9 skos:exactMatch UMLS:C3810384 semapv:UnspecifiedMatching MONDO:0014327 palmoplantar keratoderma, nonepidermolytic, focal or diffuse skos:exactMatch DOID:0111710 focal or diffuse nonepidermolytic palmoplantar keratoderma semapv:UnspecifiedMatching MONDO:0014327 palmoplantar keratoderma, nonepidermolytic, focal or diffuse skos:exactMatch MEDGEN:816724 semapv:UnspecifiedMatching MONDO:0014327 palmoplantar keratoderma, nonepidermolytic, focal or diffuse skos:exactMatch OMIM:615735 palmoplantar keratoderma, nonepidermolytic, focal or diffuse semapv:UnspecifiedMatching MONDO:0014327 palmoplantar keratoderma, nonepidermolytic, focal or diffuse skos:exactMatch Orphanet:402003 Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering semapv:UnspecifiedMatching MONDO:0014327 palmoplantar keratoderma, nonepidermolytic, focal or diffuse skos:exactMatch UMLS:C3810394 semapv:UnspecifiedMatching MONDO:0014328 developmental and epileptic encephalopathy, 19 skos:exactMatch DOID:0080431 developmental and epileptic encephalopathy 19 semapv:UnspecifiedMatching MONDO:0014328 developmental and epileptic encephalopathy, 19 skos:exactMatch MEDGEN:816730 semapv:UnspecifiedMatching MONDO:0014328 developmental and epileptic encephalopathy, 19 skos:exactMatch NCIT:C142802 Developmental and Epileptic Encephalopathy 19 semapv:UnspecifiedMatching MONDO:0014328 developmental and epileptic encephalopathy, 19 skos:exactMatch OMIM:615744 developmental and epileptic encephalopathy 19 semapv:UnspecifiedMatching MONDO:0014328 developmental and epileptic encephalopathy, 19 skos:exactMatch UMLS:C3810400 semapv:UnspecifiedMatching MONDO:0014329 atrial standstill 2 skos:exactMatch DOID:0080663 atrial standstill 2 semapv:UnspecifiedMatching MONDO:0014329 atrial standstill 2 skos:exactMatch MEDGEN:816731 semapv:UnspecifiedMatching MONDO:0014329 atrial standstill 2 skos:exactMatch OMIM:615745 atrial standstill 2 semapv:UnspecifiedMatching MONDO:0014329 atrial standstill 2 skos:exactMatch UMLS:C3810401 semapv:UnspecifiedMatching MONDO:0014330 obsolete eculizumab, poor response to skos:exactMatch OMIM:615749 eculizumab, poor response to semapv:UnspecifiedMatching MONDO:0014331 Moyamoya disease with early-onset achalasia skos:exactMatch MEDGEN:816733 semapv:UnspecifiedMatching MONDO:0014331 Moyamoya disease with early-onset achalasia skos:exactMatch OMIM:615750 moyamoya disease 6 with or without achalasia semapv:UnspecifiedMatching MONDO:0014331 Moyamoya disease with early-onset achalasia skos:exactMatch Orphanet:401945 Moyamoya disease with early-onset achalasia semapv:UnspecifiedMatching MONDO:0014331 Moyamoya disease with early-onset achalasia skos:exactMatch SCTID:718551002 semapv:UnspecifiedMatching MONDO:0014331 Moyamoya disease with early-onset achalasia skos:exactMatch UMLS:C3810403 semapv:UnspecifiedMatching MONDO:0014332 hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency skos:exactMatch MEDGEN:1644778 semapv:UnspecifiedMatching MONDO:0014332 hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency skos:exactMatch OMIM:615751 carbonic anhydrase 5a deficiency, hyperammonemia due to semapv:UnspecifiedMatching MONDO:0014332 hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency skos:exactMatch Orphanet:401948 Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency semapv:UnspecifiedMatching MONDO:0014332 hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency skos:exactMatch SCTID:764456001 semapv:UnspecifiedMatching MONDO:0014332 hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency skos:exactMatch UMLS:C4706871 semapv:UnspecifiedMatching MONDO:0014333 polymicrogyria, bilateral perisylvian, autosomal recessive skos:exactMatch MEDGEN:816735 semapv:UnspecifiedMatching MONDO:0014333 polymicrogyria, bilateral perisylvian, autosomal recessive skos:exactMatch OMIM:615752 cortical dysplasia, complex, with other brain malformations 14b (bilateral perisylvian) semapv:UnspecifiedMatching MONDO:0014333 polymicrogyria, bilateral perisylvian, autosomal recessive skos:exactMatch UMLS:C3810405 semapv:UnspecifiedMatching MONDO:0014334 severe combined immunodeficiency due to LCK deficiency skos:exactMatch DOID:0111937 immunodeficiency 22 semapv:UnspecifiedMatching MONDO:0014334 severe combined immunodeficiency due to LCK deficiency skos:exactMatch MEDGEN:862670 semapv:UnspecifiedMatching MONDO:0014334 severe combined immunodeficiency due to LCK deficiency skos:exactMatch OMIM:615758 immunodeficiency 22 semapv:UnspecifiedMatching MONDO:0014334 severe combined immunodeficiency due to LCK deficiency skos:exactMatch Orphanet:280142 Severe combined immunodeficiency due to LCK deficiency semapv:UnspecifiedMatching MONDO:0014334 severe combined immunodeficiency due to LCK deficiency skos:exactMatch UMLS:C4014233 semapv:UnspecifiedMatching MONDO:0014334 severe combined immunodeficiency due to LCK deficiency skos:exactMatch icd11.foundation:999642330 Severe combined immunodeficiency due to LCK deficiency semapv:UnspecifiedMatching MONDO:0014335 diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome skos:exactMatch MEDGEN:862676 semapv:UnspecifiedMatching MONDO:0014335 diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome skos:exactMatch OMIM:615760 microcephaly, progressive, with seizures and cerebral and cerebellar atrophy semapv:UnspecifiedMatching MONDO:0014335 diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome skos:exactMatch Orphanet:404437 Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome semapv:UnspecifiedMatching MONDO:0014335 diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome skos:exactMatch UMLS:C4014239 semapv:UnspecifiedMatching MONDO:0014336 intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency skos:exactMatch DOID:0070053 autosomal dominant intellectual developmental disorder 23 semapv:UnspecifiedMatching MONDO:0014336 intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency skos:exactMatch MEDGEN:816736 semapv:UnspecifiedMatching MONDO:0014336 intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency skos:exactMatch OMIM:615761 intellectual developmental disorder, autosomal dominant 23 semapv:UnspecifiedMatching MONDO:0014336 intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency skos:exactMatch UMLS:C3810406 semapv:UnspecifiedMatching MONDO:0014337 complex cortical dysplasia with other brain malformations 5 skos:exactMatch DOID:0090135 complex cortical dysplasia with other brain malformations 5 semapv:UnspecifiedMatching MONDO:0014337 complex cortical dysplasia with other brain malformations 5 skos:exactMatch MEDGEN:816737 semapv:UnspecifiedMatching MONDO:0014337 complex cortical dysplasia with other brain malformations 5 skos:exactMatch OMIM:615763 cortical dysplasia, complex, with other brain malformations 5 semapv:UnspecifiedMatching MONDO:0014337 complex cortical dysplasia with other brain malformations 5 skos:exactMatch UMLS:C3810407 semapv:UnspecifiedMatching MONDO:0014338 IL21-related infantile inflammatory bowel disease skos:exactMatch DOID:0081153 common variable immunodeficiency 11 semapv:UnspecifiedMatching MONDO:0014338 IL21-related infantile inflammatory bowel disease skos:exactMatch MEDGEN:1799211 semapv:UnspecifiedMatching MONDO:0014338 IL21-related infantile inflammatory bowel disease skos:exactMatch NCIT:C176801 Immunodeficiency, Common Variable, 11 semapv:UnspecifiedMatching MONDO:0014338 IL21-related infantile inflammatory bowel disease skos:exactMatch OMIM:615767 immunodeficiency, common variable, 11 semapv:UnspecifiedMatching MONDO:0014338 IL21-related infantile inflammatory bowel disease skos:exactMatch Orphanet:477661 IL21-related infantile inflammatory bowel disease semapv:UnspecifiedMatching MONDO:0014338 IL21-related infantile inflammatory bowel disease skos:exactMatch UMLS:C5567788 semapv:UnspecifiedMatching MONDO:0014339 autosomal recessive spinocerebellar ataxia 16 skos:exactMatch DOID:0080029 autosomal recessive spinocerebellar ataxia 16 semapv:UnspecifiedMatching MONDO:0014339 autosomal recessive spinocerebellar ataxia 16 skos:exactMatch MEDGEN:1674542 semapv:UnspecifiedMatching MONDO:0014339 autosomal recessive spinocerebellar ataxia 16 skos:exactMatch OMIM:615768 spinocerebellar ataxia, autosomal recessive 16 semapv:UnspecifiedMatching MONDO:0014339 autosomal recessive spinocerebellar ataxia 16 skos:exactMatch Orphanet:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency semapv:UnspecifiedMatching MONDO:0014339 autosomal recessive spinocerebellar ataxia 16 skos:exactMatch UMLS:C5190574 semapv:UnspecifiedMatching MONDO:0014340 atrial fibrillation, familial, 15 skos:exactMatch MEDGEN:862706 semapv:UnspecifiedMatching MONDO:0014340 atrial fibrillation, familial, 15 skos:exactMatch OMIM:615770 atrial fibrillation, familial, 15 semapv:UnspecifiedMatching MONDO:0014340 atrial fibrillation, familial, 15 skos:exactMatch UMLS:C4014269 semapv:UnspecifiedMatching MONDO:0014341 complex cortical dysplasia with other brain malformations 6 skos:exactMatch DOID:0090136 complex cortical dysplasia with other brain malformations 6 semapv:UnspecifiedMatching MONDO:0014341 complex cortical dysplasia with other brain malformations 6 skos:exactMatch MEDGEN:862720 semapv:UnspecifiedMatching MONDO:0014341 complex cortical dysplasia with other brain malformations 6 skos:exactMatch OMIM:615771 cortical dysplasia, complex, with other brain malformations 6 semapv:UnspecifiedMatching MONDO:0014341 complex cortical dysplasia with other brain malformations 6 skos:exactMatch UMLS:C4014283 semapv:UnspecifiedMatching MONDO:0014342 female infertility due to zona pellucida defect skos:exactMatch MEDGEN:862728 semapv:UnspecifiedMatching MONDO:0014342 female infertility due to zona pellucida defect skos:exactMatch OMIM:615774 oocyte/zygote/embryo maturation arrest 1 semapv:UnspecifiedMatching MONDO:0014342 female infertility due to zona pellucida defect skos:exactMatch Orphanet:404466 Female infertility due to zona pellucida defect semapv:UnspecifiedMatching MONDO:0014342 female infertility due to zona pellucida defect skos:exactMatch UMLS:C4014291 semapv:UnspecifiedMatching MONDO:0014343 Desbuquois dysplasia 2 skos:exactMatch MEDGEN:862731 semapv:UnspecifiedMatching MONDO:0014343 Desbuquois dysplasia 2 skos:exactMatch OMIM:615777 desbuquois dysplasia 2 semapv:UnspecifiedMatching MONDO:0014343 Desbuquois dysplasia 2 skos:exactMatch UMLS:C4014294 semapv:UnspecifiedMatching MONDO:0014344 congenital heart defects, multiple types, 4 skos:exactMatch MEDGEN:862747 semapv:UnspecifiedMatching MONDO:0014344 congenital heart defects, multiple types, 4 skos:exactMatch OMIM:615779 congenital heart defects, multiple types, 4 semapv:UnspecifiedMatching MONDO:0014344 congenital heart defects, multiple types, 4 skos:exactMatch UMLS:C4014310 semapv:UnspecifiedMatching MONDO:0014345 retinitis pigmentosa 69 skos:exactMatch DOID:0110410 retinitis pigmentosa 69 semapv:UnspecifiedMatching MONDO:0014345 retinitis pigmentosa 69 skos:exactMatch MEDGEN:862749 semapv:UnspecifiedMatching MONDO:0014345 retinitis pigmentosa 69 skos:exactMatch OMIM:615780 retinitis pigmentosa 69 semapv:UnspecifiedMatching MONDO:0014345 retinitis pigmentosa 69 skos:exactMatch UMLS:C4014312 semapv:UnspecifiedMatching MONDO:0014346 white sponge nevus 2 skos:exactMatch DOID:0081288 white sponge nevus 2 semapv:UnspecifiedMatching MONDO:0014346 white sponge nevus 2 skos:exactMatch MEDGEN:862758 semapv:UnspecifiedMatching MONDO:0014346 white sponge nevus 2 skos:exactMatch OMIM:615785 white sponge nevus 2 semapv:UnspecifiedMatching MONDO:0014346 white sponge nevus 2 skos:exactMatch UMLS:C4014321 semapv:UnspecifiedMatching MONDO:0014347 Rothmund-Thomson syndrome type 3 skos:exactMatch MEDGEN:862776 semapv:UnspecifiedMatching MONDO:0014347 Rothmund-Thomson syndrome type 3 skos:exactMatch OMIM:615789 rothmund-thomson syndrome, type 3 semapv:UnspecifiedMatching MONDO:0014347 Rothmund-Thomson syndrome type 3 skos:exactMatch UMLS:C4014339 semapv:UnspecifiedMatching MONDO:0014348 intellectual disability, autosomal recessive 42 skos:exactMatch MEDGEN:862780 semapv:UnspecifiedMatching MONDO:0014348 intellectual disability, autosomal recessive 42 skos:exactMatch OMIM:615802 neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities semapv:UnspecifiedMatching MONDO:0014348 intellectual disability, autosomal recessive 42 skos:exactMatch UMLS:C4014343 semapv:UnspecifiedMatching MONDO:0014349 pontocerebellar hypoplasia type 10 skos:exactMatch DOID:0060279 pontocerebellar hypoplasia type 10 semapv:UnspecifiedMatching MONDO:0014349 pontocerebellar hypoplasia type 10 skos:exactMatch MEDGEN:1676575 semapv:UnspecifiedMatching MONDO:0014349 pontocerebellar hypoplasia type 10 skos:exactMatch OMIM:615803 pontocerebellar hypoplasia, type 10 semapv:UnspecifiedMatching MONDO:0014349 pontocerebellar hypoplasia type 10 skos:exactMatch Orphanet:411493 Pontocerebellar hypoplasia type 10 semapv:UnspecifiedMatching MONDO:0014349 pontocerebellar hypoplasia type 10 skos:exactMatch UMLS:C5190575 semapv:UnspecifiedMatching MONDO:0014350 Seckel syndrome 8 skos:exactMatch DOID:0070009 Seckel syndrome 8 semapv:UnspecifiedMatching MONDO:0014350 Seckel syndrome 8 skos:exactMatch MEDGEN:856014 semapv:UnspecifiedMatching MONDO:0014350 Seckel syndrome 8 skos:exactMatch OMIM:615807 seckel syndrome 8 semapv:UnspecifiedMatching MONDO:0014350 Seckel syndrome 8 skos:exactMatch UMLS:C3891452 semapv:UnspecifiedMatching MONDO:0014351 pontocerebellar hypoplasia type 9 skos:exactMatch DOID:0060278 pontocerebellar hypoplasia type 9 semapv:UnspecifiedMatching MONDO:0014351 pontocerebellar hypoplasia type 9 skos:exactMatch MEDGEN:862791 semapv:UnspecifiedMatching MONDO:0014351 pontocerebellar hypoplasia type 9 skos:exactMatch OMIM:615809 pontocerebellar hypoplasia, type 9 semapv:UnspecifiedMatching MONDO:0014351 pontocerebellar hypoplasia type 9 skos:exactMatch Orphanet:369920 Pontocerebellar hypoplasia type 9 semapv:UnspecifiedMatching MONDO:0014351 pontocerebellar hypoplasia type 9 skos:exactMatch UMLS:C4014354 semapv:UnspecifiedMatching MONDO:0014352 abdominal obesity-metabolic syndrome 3 skos:exactMatch DOID:0060612 abdominal obesity-metabolic syndrome 3 semapv:UnspecifiedMatching MONDO:0014352 abdominal obesity-metabolic syndrome 3 skos:exactMatch MEDGEN:862798 semapv:UnspecifiedMatching MONDO:0014352 abdominal obesity-metabolic syndrome 3 skos:exactMatch OMIM:615812 abdominal obesity-metabolic syndrome 3 semapv:UnspecifiedMatching MONDO:0014352 abdominal obesity-metabolic syndrome 3 skos:exactMatch UMLS:C4014361 semapv:UnspecifiedMatching MONDO:0014353 immunodeficiency 23 skos:exactMatch DOID:0111953 immunodeficiency 23 semapv:UnspecifiedMatching MONDO:0014353 immunodeficiency 23 skos:exactMatch MEDGEN:862808 semapv:UnspecifiedMatching MONDO:0014353 immunodeficiency 23 skos:exactMatch OMIM:615816 immunodeficiency 23 semapv:UnspecifiedMatching MONDO:0014353 immunodeficiency 23 skos:exactMatch Orphanet:443811 PGM3-CDG semapv:UnspecifiedMatching MONDO:0014353 immunodeficiency 23 skos:exactMatch UMLS:C4014371 semapv:UnspecifiedMatching MONDO:0014353 immunodeficiency 23 skos:exactMatch mesh:C565684 semapv:UnspecifiedMatching MONDO:0014354 intellectual disability, autosomal recessive 43 skos:exactMatch DOID:0081207 autosomal recessive intellectual developmental disorder 43 semapv:UnspecifiedMatching MONDO:0014354 intellectual disability, autosomal recessive 43 skos:exactMatch MEDGEN:862823 semapv:UnspecifiedMatching MONDO:0014354 intellectual disability, autosomal recessive 43 skos:exactMatch OMIM:615817 intellectual developmental disorder, autosomal recessive 43 semapv:UnspecifiedMatching MONDO:0014354 intellectual disability, autosomal recessive 43 skos:exactMatch UMLS:C4014386 semapv:UnspecifiedMatching MONDO:0014355 cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis skos:exactMatch MEDGEN:862830 semapv:UnspecifiedMatching MONDO:0014355 cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis skos:exactMatch OMIM:615821 cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis semapv:UnspecifiedMatching MONDO:0014355 cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis skos:exactMatch Orphanet:476096 Erythrokeratodermia-cardiomyopathy syndrome semapv:UnspecifiedMatching MONDO:0014355 cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis skos:exactMatch UMLS:C4014393 semapv:UnspecifiedMatching MONDO:0014356 mitochondrial complex III deficiency nuclear type 7 skos:exactMatch DOID:0080116 mitochondrial complex III deficiency nuclear type 7 semapv:UnspecifiedMatching MONDO:0014356 mitochondrial complex III deficiency nuclear type 7 skos:exactMatch MEDGEN:862845 semapv:UnspecifiedMatching MONDO:0014356 mitochondrial complex III deficiency nuclear type 7 skos:exactMatch OMIM:615824 mitochondrial complex 3 deficiency, nuclear type 7 semapv:UnspecifiedMatching MONDO:0014356 mitochondrial complex III deficiency nuclear type 7 skos:exactMatch UMLS:C4014408 semapv:UnspecifiedMatching MONDO:0014357 intellectual disability, autosomal dominant 24 skos:exactMatch DOID:0070054 Vulto-van Silfout-de Vries syndrome semapv:UnspecifiedMatching MONDO:0014357 intellectual disability, autosomal dominant 24 skos:exactMatch MEDGEN:862851 semapv:UnspecifiedMatching MONDO:0014357 intellectual disability, autosomal dominant 24 skos:exactMatch OMIM:615828 vulto-van silfhout-de vries syndrome semapv:UnspecifiedMatching MONDO:0014357 intellectual disability, autosomal dominant 24 skos:exactMatch UMLS:C4014414 semapv:UnspecifiedMatching MONDO:0014358 AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome skos:exactMatch DOID:0070055 Xia-Gibbs Syndrome semapv:UnspecifiedMatching MONDO:0014358 AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome skos:exactMatch MEDGEN:862856 semapv:UnspecifiedMatching MONDO:0014358 AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome skos:exactMatch OMIM:615829 xia-gibbs syndrome semapv:UnspecifiedMatching MONDO:0014358 AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome skos:exactMatch Orphanet:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome semapv:UnspecifiedMatching MONDO:0014358 AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome skos:exactMatch UMLS:C4014419 semapv:UnspecifiedMatching MONDO:0014359 pigmented nodular adrenocortical disease, primary, 4 skos:exactMatch DOID:0070549 primary pigmented nodular adrenocortical disease 4 semapv:UnspecifiedMatching MONDO:0014359 pigmented nodular adrenocortical disease, primary, 4 skos:exactMatch MEDGEN:862862 semapv:UnspecifiedMatching MONDO:0014359 pigmented nodular adrenocortical disease, primary, 4 skos:exactMatch OMIM:615830 pigmented nodular adrenocortical disease, primary, 4 semapv:UnspecifiedMatching MONDO:0014359 pigmented nodular adrenocortical disease, primary, 4 skos:exactMatch UMLS:C4014425 semapv:UnspecifiedMatching MONDO:0014360 developmental and epileptic encephalopathy, 21 skos:exactMatch DOID:0080443 developmental and epileptic encephalopathy 21 semapv:UnspecifiedMatching MONDO:0014360 developmental and epileptic encephalopathy, 21 skos:exactMatch MEDGEN:862867 semapv:UnspecifiedMatching MONDO:0014360 developmental and epileptic encephalopathy, 21 skos:exactMatch OMIM:615833 developmental and epileptic encephalopathy 21 semapv:UnspecifiedMatching MONDO:0014360 developmental and epileptic encephalopathy, 21 skos:exactMatch UMLS:C4014430 semapv:UnspecifiedMatching MONDO:0014361 autism spectrum disorder due to AUTS2 deficiency skos:exactMatch DOID:0070056 autosomal dominant intellectual developmental disorder 26 semapv:UnspecifiedMatching MONDO:0014361 autism spectrum disorder due to AUTS2 deficiency skos:exactMatch MEDGEN:862872 semapv:UnspecifiedMatching MONDO:0014361 autism spectrum disorder due to AUTS2 deficiency skos:exactMatch OMIM:615834 intellectual developmental disorder, autosomal dominant 26 semapv:UnspecifiedMatching MONDO:0014361 autism spectrum disorder due to AUTS2 deficiency skos:exactMatch Orphanet:352490 Autism spectrum disorder due to AUTS2 deficiency semapv:UnspecifiedMatching MONDO:0014361 autism spectrum disorder due to AUTS2 deficiency skos:exactMatch UMLS:C4014435 semapv:UnspecifiedMatching MONDO:0014362 chromosome 16 inversion, 0.45-Mb skos:exactMatch MEDGEN:862873 semapv:UnspecifiedMatching MONDO:0014362 chromosome 16 inversion, 0.45-Mb skos:exactMatch OMIM:615835 chromosome 16 inversion, 0.45-mb semapv:UnspecifiedMatching MONDO:0014362 chromosome 16 inversion, 0.45-Mb skos:exactMatch UMLS:C4014436 semapv:UnspecifiedMatching MONDO:0014363 autosomal recessive nonsyndromic hearing loss 101 skos:exactMatch DOID:0110462 autosomal recessive nonsyndromic deafness 101 semapv:UnspecifiedMatching MONDO:0014363 autosomal recessive nonsyndromic hearing loss 101 skos:exactMatch MEDGEN:856148 semapv:UnspecifiedMatching MONDO:0014363 autosomal recessive nonsyndromic hearing loss 101 skos:exactMatch OMIM:615837 deafness, autosomal recessive 101 semapv:UnspecifiedMatching MONDO:0014363 autosomal recessive nonsyndromic hearing loss 101 skos:exactMatch UMLS:C3892049 semapv:UnspecifiedMatching MONDO:0014364 mitochondrial complex III deficiency nuclear type 8 skos:exactMatch DOID:0080117 mitochondrial complex III deficiency nuclear type 8 semapv:UnspecifiedMatching MONDO:0014364 mitochondrial complex III deficiency nuclear type 8 skos:exactMatch MEDGEN:862877 semapv:UnspecifiedMatching MONDO:0014364 mitochondrial complex III deficiency nuclear type 8 skos:exactMatch OMIM:615838 mitochondrial complex 3 deficiency, nuclear type 8 semapv:UnspecifiedMatching MONDO:0014364 mitochondrial complex III deficiency nuclear type 8 skos:exactMatch UMLS:C4014440 semapv:UnspecifiedMatching MONDO:0014365 spermatogenic failure 13 skos:exactMatch DOID:0070182 spermatogenic failure 13 semapv:UnspecifiedMatching MONDO:0014365 spermatogenic failure 13 skos:exactMatch MEDGEN:862886 semapv:UnspecifiedMatching MONDO:0014365 spermatogenic failure 13 skos:exactMatch OMIM:615841 spermatogenic failure 13 semapv:UnspecifiedMatching MONDO:0014365 spermatogenic failure 13 skos:exactMatch UMLS:C4014449 semapv:UnspecifiedMatching MONDO:0014366 spermatogenic failure 14 skos:exactMatch DOID:0070179 spermatogenic failure 14 semapv:UnspecifiedMatching MONDO:0014366 spermatogenic failure 14 skos:exactMatch MEDGEN:862891 semapv:UnspecifiedMatching MONDO:0014366 spermatogenic failure 14 skos:exactMatch OMIM:615842 spermatogenic failure 14 semapv:UnspecifiedMatching MONDO:0014366 spermatogenic failure 14 skos:exactMatch UMLS:C4014454 semapv:UnspecifiedMatching MONDO:0014367 Aicardi-Goutieres syndrome 7 skos:exactMatch MEDGEN:854829 semapv:UnspecifiedMatching MONDO:0014367 Aicardi-Goutieres syndrome 7 skos:exactMatch NCIT:C168585 Aicardi-Goutieres Syndrome 7 semapv:UnspecifiedMatching MONDO:0014367 Aicardi-Goutieres syndrome 7 skos:exactMatch OMIM:615846 aicardi-goutieres syndrome 7 semapv:UnspecifiedMatching MONDO:0014367 Aicardi-Goutieres syndrome 7 skos:exactMatch UMLS:C3888244 semapv:UnspecifiedMatching MONDO:0014368 tumor predisposition syndrome 3 skos:exactMatch MEDGEN:862913 semapv:UnspecifiedMatching MONDO:0014368 tumor predisposition syndrome 3 skos:exactMatch OMIM:615848 tumor predisposition syndrome 3 semapv:UnspecifiedMatching MONDO:0014368 tumor predisposition syndrome 3 skos:exactMatch UMLS:C4014476 semapv:UnspecifiedMatching MONDO:0014369 postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome skos:exactMatch DOID:0080328 Culler-Jones syndrome semapv:UnspecifiedMatching MONDO:0014369 postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome skos:exactMatch MEDGEN:862916 semapv:UnspecifiedMatching MONDO:0014369 postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome skos:exactMatch OMIM:615849 culler-jones syndrome semapv:UnspecifiedMatching MONDO:0014369 postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome skos:exactMatch Orphanet:420584 Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome semapv:UnspecifiedMatching MONDO:0014369 postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome skos:exactMatch UMLS:C4014479 semapv:UnspecifiedMatching MONDO:0014370 pontocerebellar hypoplasia type 2E skos:exactMatch DOID:0060271 pontocerebellar hypoplasia type 2E semapv:UnspecifiedMatching MONDO:0014370 pontocerebellar hypoplasia type 2E skos:exactMatch MEDGEN:862925 semapv:UnspecifiedMatching MONDO:0014370 pontocerebellar hypoplasia type 2E skos:exactMatch OMIM:615851 pontocerebellar hypoplasia, type 2e semapv:UnspecifiedMatching MONDO:0014370 pontocerebellar hypoplasia type 2E skos:exactMatch UMLS:C4014488 semapv:UnspecifiedMatching MONDO:0014371 developmental and epileptic encephalopathy, 23 skos:exactMatch DOID:0080415 developmental and epileptic encephalopathy 23 semapv:UnspecifiedMatching MONDO:0014371 developmental and epileptic encephalopathy, 23 skos:exactMatch MEDGEN:862929 semapv:UnspecifiedMatching MONDO:0014371 developmental and epileptic encephalopathy, 23 skos:exactMatch OMIM:615859 developmental and epileptic encephalopathy 23 semapv:UnspecifiedMatching MONDO:0014371 developmental and epileptic encephalopathy, 23 skos:exactMatch Orphanet:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome semapv:UnspecifiedMatching MONDO:0014371 developmental and epileptic encephalopathy, 23 skos:exactMatch UMLS:C4014492 semapv:UnspecifiedMatching MONDO:0014372 cone-rod dystrophy 19 skos:exactMatch DOID:0111025 cone-rod dystrophy 19 semapv:UnspecifiedMatching MONDO:0014372 cone-rod dystrophy 19 skos:exactMatch MEDGEN:862938 semapv:UnspecifiedMatching MONDO:0014372 cone-rod dystrophy 19 skos:exactMatch OMIM:615860 cone-rod dystrophy 19 semapv:UnspecifiedMatching MONDO:0014372 cone-rod dystrophy 19 skos:exactMatch UMLS:C4014501 semapv:UnspecifiedMatching MONDO:0014373 nephrotic syndrome, type 10 skos:exactMatch DOID:0080386 nephrotic syndrome type 10 semapv:UnspecifiedMatching MONDO:0014373 nephrotic syndrome, type 10 skos:exactMatch MEDGEN:862944 semapv:UnspecifiedMatching MONDO:0014373 nephrotic syndrome, type 10 skos:exactMatch OMIM:615861 nephrotic syndrome, type 10 semapv:UnspecifiedMatching MONDO:0014373 nephrotic syndrome, type 10 skos:exactMatch UMLS:C4014507 semapv:UnspecifiedMatching MONDO:0014374 nephronophthisis 18 skos:exactMatch DOID:0111125 nephronophthisis 18 semapv:UnspecifiedMatching MONDO:0014374 nephronophthisis 18 skos:exactMatch MEDGEN:855697 semapv:UnspecifiedMatching MONDO:0014374 nephronophthisis 18 skos:exactMatch OMIM:615862 nephronophthisis 18 semapv:UnspecifiedMatching MONDO:0014374 nephronophthisis 18 skos:exactMatch UMLS:C3890591 semapv:UnspecifiedMatching MONDO:0014375 congenital diarrhea 7 with exudative enteropathy skos:exactMatch DOID:0060778 congenital diarrhea 7 with exudative enteropathy semapv:UnspecifiedMatching MONDO:0014375 congenital diarrhea 7 with exudative enteropathy skos:exactMatch MEDGEN:862953 semapv:UnspecifiedMatching MONDO:0014375 congenital diarrhea 7 with exudative enteropathy skos:exactMatch OMIM:615863 diarrhea 7, protein-losing enteropathy type semapv:UnspecifiedMatching MONDO:0014375 congenital diarrhea 7 with exudative enteropathy skos:exactMatch Orphanet:329242 Congenital chronic diarrhea with protein-losing enteropathy semapv:UnspecifiedMatching MONDO:0014375 congenital diarrhea 7 with exudative enteropathy skos:exactMatch UMLS:C4014516 semapv:UnspecifiedMatching MONDO:0014376 intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism skos:exactMatch DOID:0070057 Coffin-Siris syndrome 9 semapv:UnspecifiedMatching MONDO:0014376 intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism skos:exactMatch MEDGEN:862965 semapv:UnspecifiedMatching MONDO:0014376 intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism skos:exactMatch OMIM:615866 intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism semapv:UnspecifiedMatching MONDO:0014376 intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism skos:exactMatch UMLS:C4014528 semapv:UnspecifiedMatching MONDO:0014377 developmental and epileptic encephalopathy, 24 skos:exactMatch DOID:0080429 developmental and epileptic encephalopathy 24 semapv:UnspecifiedMatching MONDO:0014377 developmental and epileptic encephalopathy, 24 skos:exactMatch MEDGEN:862968 semapv:UnspecifiedMatching MONDO:0014377 developmental and epileptic encephalopathy, 24 skos:exactMatch OMIM:615871 developmental and epileptic encephalopathy 24 semapv:UnspecifiedMatching MONDO:0014377 developmental and epileptic encephalopathy, 24 skos:exactMatch UMLS:C4014531 semapv:UnspecifiedMatching MONDO:0014378 primary ciliary dyskinesia 29 skos:exactMatch DOID:0110600 primary ciliary dyskinesia 29 semapv:UnspecifiedMatching MONDO:0014378 primary ciliary dyskinesia 29 skos:exactMatch MEDGEN:862971 semapv:UnspecifiedMatching MONDO:0014378 primary ciliary dyskinesia 29 skos:exactMatch NCIT:C172393 Primary Ciliary Dyskinesia 29 semapv:UnspecifiedMatching MONDO:0014378 primary ciliary dyskinesia 29 skos:exactMatch OMIM:615872 ciliary dyskinesia, primary, 29 semapv:UnspecifiedMatching MONDO:0014378 primary ciliary dyskinesia 29 skos:exactMatch UMLS:C4014534 semapv:UnspecifiedMatching MONDO:0014379 ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder skos:exactMatch DOID:0070058 Helsmoortel-Van Der Aa Syndrome semapv:UnspecifiedMatching MONDO:0014379 ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder skos:exactMatch MEDGEN:862975 semapv:UnspecifiedMatching MONDO:0014379 ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder skos:exactMatch OMIM:615873 helsmoortel-van der aa syndrome semapv:UnspecifiedMatching MONDO:0014379 ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder skos:exactMatch Orphanet:404448 ADNP syndrome semapv:UnspecifiedMatching MONDO:0014379 ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder skos:exactMatch SCTID:766824003 semapv:UnspecifiedMatching MONDO:0014379 ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder skos:exactMatch UMLS:C4014538 semapv:UnspecifiedMatching MONDO:0014380 colobomatous microphthalmia-rhizomelic dysplasia syndrome skos:exactMatch DOID:0111802 syndromic microphthalmia 14 semapv:UnspecifiedMatching MONDO:0014380 colobomatous microphthalmia-rhizomelic dysplasia syndrome skos:exactMatch MEDGEN:862977 semapv:UnspecifiedMatching MONDO:0014380 colobomatous microphthalmia-rhizomelic dysplasia syndrome skos:exactMatch OMIM:615877 microphthalmia/coloboma and skeletal dysplasia syndrome semapv:UnspecifiedMatching MONDO:0014380 colobomatous microphthalmia-rhizomelic dysplasia syndrome skos:exactMatch Orphanet:424099 Colobomatous microphthalmia-rhizomelic dysplasia syndrome semapv:UnspecifiedMatching MONDO:0014380 colobomatous microphthalmia-rhizomelic dysplasia syndrome skos:exactMatch UMLS:C4014540 semapv:UnspecifiedMatching MONDO:0014381 cholestasis, progressive familial intrahepatic, 4 skos:exactMatch DOID:0070224 progressive familial intrahepatic cholestasis 4 semapv:UnspecifiedMatching MONDO:0014381 cholestasis, progressive familial intrahepatic, 4 skos:exactMatch MEDGEN:418976 semapv:UnspecifiedMatching MONDO:0014381 cholestasis, progressive familial intrahepatic, 4 skos:exactMatch OMIM:615878 cholestasis, progressive familial intrahepatic, 4 semapv:UnspecifiedMatching MONDO:0014381 cholestasis, progressive familial intrahepatic, 4 skos:exactMatch Orphanet:480483 Progressive familial intrahepatic cholestasis type 4 semapv:UnspecifiedMatching MONDO:0014381 cholestasis, progressive familial intrahepatic, 4 skos:exactMatch UMLS:C2931067 semapv:UnspecifiedMatching MONDO:0014382 Tatton-Brown-Rahman overgrowth syndrome skos:exactMatch DOID:0112339 Tatton-Brown-Rahman syndrome semapv:UnspecifiedMatching MONDO:0014382 Tatton-Brown-Rahman overgrowth syndrome skos:exactMatch MEDGEN:862982 semapv:UnspecifiedMatching MONDO:0014382 Tatton-Brown-Rahman overgrowth syndrome skos:exactMatch OMIM:615879 tatton-brown-rahman syndrome semapv:UnspecifiedMatching MONDO:0014382 Tatton-Brown-Rahman overgrowth syndrome skos:exactMatch Orphanet:404443 Tatton-Brown-Rahman syndrome semapv:UnspecifiedMatching MONDO:0014382 Tatton-Brown-Rahman overgrowth syndrome skos:exactMatch SCTID:768843007 semapv:UnspecifiedMatching MONDO:0014382 Tatton-Brown-Rahman overgrowth syndrome skos:exactMatch UMLS:C4014545 semapv:UnspecifiedMatching MONDO:0014383 myopathy, tubular aggregate, 2 skos:exactMatch DOID:0080686 tubular aggregate myopathy 2 semapv:UnspecifiedMatching MONDO:0014383 myopathy, tubular aggregate, 2 skos:exactMatch MEDGEN:862994 semapv:UnspecifiedMatching MONDO:0014383 myopathy, tubular aggregate, 2 skos:exactMatch OMIM:615883 myopathy, tubular aggregate, 2 semapv:UnspecifiedMatching MONDO:0014383 myopathy, tubular aggregate, 2 skos:exactMatch UMLS:C4014557 semapv:UnspecifiedMatching MONDO:0014384 hypotrichosis 12 skos:exactMatch DOID:0110709 hypotrichosis 12 semapv:UnspecifiedMatching MONDO:0014384 hypotrichosis 12 skos:exactMatch MEDGEN:863000 semapv:UnspecifiedMatching MONDO:0014384 hypotrichosis 12 skos:exactMatch OMIM:615885 hypotrichosis 12 semapv:UnspecifiedMatching MONDO:0014384 hypotrichosis 12 skos:exactMatch UMLS:C4014563 semapv:UnspecifiedMatching MONDO:0014385 amelogenesis imperfecta hypomaturation type 2A5 skos:exactMatch DOID:0110063 amelogenesis imperfecta hypomaturation type 2A5 semapv:UnspecifiedMatching MONDO:0014385 amelogenesis imperfecta hypomaturation type 2A5 skos:exactMatch MEDGEN:863015 semapv:UnspecifiedMatching MONDO:0014385 amelogenesis imperfecta hypomaturation type 2A5 skos:exactMatch OMIM:615887 amelogenesis imperfecta, hypomaturation type, iia5 semapv:UnspecifiedMatching MONDO:0014385 amelogenesis imperfecta hypomaturation type 2A5 skos:exactMatch UMLS:C4014578 semapv:UnspecifiedMatching MONDO:0014386 platelet-type bleeding disorder 18 skos:exactMatch DOID:0111051 platelet-type bleeding disorder 18 semapv:UnspecifiedMatching MONDO:0014386 platelet-type bleeding disorder 18 skos:exactMatch MEDGEN:863021 semapv:UnspecifiedMatching MONDO:0014386 platelet-type bleeding disorder 18 skos:exactMatch OMIM:615888 bleeding disorder, platelet-type, 18 semapv:UnspecifiedMatching MONDO:0014386 platelet-type bleeding disorder 18 skos:exactMatch Orphanet:420566 Bleeding disorder due to CalDAG-GEFI deficiency semapv:UnspecifiedMatching MONDO:0014386 platelet-type bleeding disorder 18 skos:exactMatch UMLS:C4014584 semapv:UnspecifiedMatching MONDO:0014387 leukoencephalopathy, progressive, with ovarian failure skos:exactMatch DOID:0070396 progressive leukoencephalopathy with ovarian failure semapv:UnspecifiedMatching MONDO:0014387 leukoencephalopathy, progressive, with ovarian failure skos:exactMatch MEDGEN:863025 semapv:UnspecifiedMatching MONDO:0014387 leukoencephalopathy, progressive, with ovarian failure skos:exactMatch OMIM:615889 leukoencephalopathy, progressive, with ovarian failure semapv:UnspecifiedMatching MONDO:0014387 leukoencephalopathy, progressive, with ovarian failure skos:exactMatch UMLS:C4014588 semapv:UnspecifiedMatching MONDO:0014388 familial median cleft of the upper and lower lips skos:exactMatch DOID:0080407 orofacial cleft 14 semapv:UnspecifiedMatching MONDO:0014388 familial median cleft of the upper and lower lips skos:exactMatch MEDGEN:863033 semapv:UnspecifiedMatching MONDO:0014388 familial median cleft of the upper and lower lips skos:exactMatch OMIM:615892 orofacial cleft 14 semapv:UnspecifiedMatching MONDO:0014388 familial median cleft of the upper and lower lips skos:exactMatch Orphanet:401942 Familial median cleft of the upper and lower lips semapv:UnspecifiedMatching MONDO:0014388 familial median cleft of the upper and lower lips skos:exactMatch UMLS:C4014596 semapv:UnspecifiedMatching MONDO:0014389 polyglucosan body myopathy 1 with or without immunodeficiency skos:exactMatch MEDGEN:863042 semapv:UnspecifiedMatching MONDO:0014389 polyglucosan body myopathy 1 with or without immunodeficiency skos:exactMatch OMIM:615895 polyglucosan body myopathy 1 with or without immunodeficiency semapv:UnspecifiedMatching MONDO:0014389 polyglucosan body myopathy 1 with or without immunodeficiency skos:exactMatch Orphanet:397937 Polyglucosan body myopathy type 1 semapv:UnspecifiedMatching MONDO:0014389 polyglucosan body myopathy 1 with or without immunodeficiency skos:exactMatch UMLS:C4014605 semapv:UnspecifiedMatching MONDO:0014390 hypotrichosis 13 skos:exactMatch DOID:0110710 hypotrichosis 13 semapv:UnspecifiedMatching MONDO:0014390 hypotrichosis 13 skos:exactMatch MEDGEN:863053 semapv:UnspecifiedMatching MONDO:0014390 hypotrichosis 13 skos:exactMatch OMIM:615896 hypotrichosis 13 semapv:UnspecifiedMatching MONDO:0014390 hypotrichosis 13 skos:exactMatch UMLS:C4014616 semapv:UnspecifiedMatching MONDO:0014391 combined immunodeficiency due to CTPS1 deficiency skos:exactMatch DOID:0111938 immunodeficiency 24 semapv:UnspecifiedMatching MONDO:0014391 combined immunodeficiency due to CTPS1 deficiency skos:exactMatch MEDGEN:863054 semapv:UnspecifiedMatching MONDO:0014391 combined immunodeficiency due to CTPS1 deficiency skos:exactMatch OMIM:615897 immunodeficiency 24 semapv:UnspecifiedMatching MONDO:0014391 combined immunodeficiency due to CTPS1 deficiency skos:exactMatch Orphanet:420573 Severe combined immunodeficiency due to CTPS1 deficiency semapv:UnspecifiedMatching MONDO:0014391 combined immunodeficiency due to CTPS1 deficiency skos:exactMatch SCTID:763623001 semapv:UnspecifiedMatching MONDO:0014391 combined immunodeficiency due to CTPS1 deficiency skos:exactMatch UMLS:C4014617 semapv:UnspecifiedMatching MONDO:0014392 developmental and epileptic encephalopathy, 25 skos:exactMatch DOID:0080453 developmental and epileptic encephalopathy 25 semapv:UnspecifiedMatching MONDO:0014392 developmental and epileptic encephalopathy, 25 skos:exactMatch MEDGEN:863058 semapv:UnspecifiedMatching MONDO:0014392 developmental and epileptic encephalopathy, 25 skos:exactMatch OMIM:615905 developmental and epileptic encephalopathy 25 with amelogenesis imperfecta semapv:UnspecifiedMatching MONDO:0014392 developmental and epileptic encephalopathy, 25 skos:exactMatch UMLS:C4014621 semapv:UnspecifiedMatching MONDO:0014393 lymphatic malformation 4 skos:exactMatch DOID:0070209 hereditary lymphedema ID semapv:UnspecifiedMatching MONDO:0014393 lymphatic malformation 4 skos:exactMatch MEDGEN:1651756 semapv:UnspecifiedMatching MONDO:0014393 lymphatic malformation 4 skos:exactMatch OMIM:615907 lymphatic malformation 4 semapv:UnspecifiedMatching MONDO:0014393 lymphatic malformation 4 skos:exactMatch UMLS:C4747769 semapv:UnspecifiedMatching MONDO:0014394 Diamond-Blackfan anemia 13 skos:exactMatch DOID:0111889 Diamond-Blackfan anemia 13 semapv:UnspecifiedMatching MONDO:0014394 Diamond-Blackfan anemia 13 skos:exactMatch MEDGEN:863078 semapv:UnspecifiedMatching MONDO:0014394 Diamond-Blackfan anemia 13 skos:exactMatch OMIM:615909 diamond-blackfan anemia 13 semapv:UnspecifiedMatching MONDO:0014394 Diamond-Blackfan anemia 13 skos:exactMatch UMLS:C4014641 semapv:UnspecifiedMatching MONDO:0014395 frontotemporal dementia and/or amyotrophic lateral sclerosis 2 skos:exactMatch DOID:0060214 frontotemporal dementia and/or amyotrophic lateral sclerosis 2 semapv:UnspecifiedMatching MONDO:0014395 frontotemporal dementia and/or amyotrophic lateral sclerosis 2 skos:exactMatch MEDGEN:863085 semapv:UnspecifiedMatching MONDO:0014395 frontotemporal dementia and/or amyotrophic lateral sclerosis 2 skos:exactMatch OMIM:615911 frontotemporal dementia and/or amyotrophic lateral sclerosis 2 semapv:UnspecifiedMatching MONDO:0014395 frontotemporal dementia and/or amyotrophic lateral sclerosis 2 skos:exactMatch UMLS:C4014648 semapv:UnspecifiedMatching MONDO:0014396 dilated cardiomyopathy 1NN skos:exactMatch DOID:0110432 dilated cardiomyopathy 1NN semapv:UnspecifiedMatching MONDO:0014396 dilated cardiomyopathy 1NN skos:exactMatch MEDGEN:863093 semapv:UnspecifiedMatching MONDO:0014396 dilated cardiomyopathy 1NN skos:exactMatch OMIM:615916 cardiomyopathy, dilated, 1nn semapv:UnspecifiedMatching MONDO:0014396 dilated cardiomyopathy 1NN skos:exactMatch UMLS:C4014656 semapv:UnspecifiedMatching MONDO:0014397 combined oxidative phosphorylation defect type 20 skos:exactMatch DOID:0111478 combined oxidative phosphorylation deficiency 20 semapv:UnspecifiedMatching MONDO:0014397 combined oxidative phosphorylation defect type 20 skos:exactMatch MEDGEN:863097 semapv:UnspecifiedMatching MONDO:0014397 combined oxidative phosphorylation defect type 20 skos:exactMatch OMIM:615917 combined oxidative phosphorylation deficiency 20 semapv:UnspecifiedMatching MONDO:0014397 combined oxidative phosphorylation defect type 20 skos:exactMatch Orphanet:420728 Combined oxidative phosphorylation defect type 20 semapv:UnspecifiedMatching MONDO:0014397 combined oxidative phosphorylation defect type 20 skos:exactMatch UMLS:C4014660 semapv:UnspecifiedMatching MONDO:0014398 combined oxidative phosphorylation defect type 21 skos:exactMatch DOID:0111465 combined oxidative phosphorylation deficiency 21 semapv:UnspecifiedMatching MONDO:0014398 combined oxidative phosphorylation defect type 21 skos:exactMatch MEDGEN:1638633 semapv:UnspecifiedMatching MONDO:0014398 combined oxidative phosphorylation defect type 21 skos:exactMatch OMIM:615918 combined oxidative phosphorylation deficiency 21 semapv:UnspecifiedMatching MONDO:0014398 combined oxidative phosphorylation defect type 21 skos:exactMatch Orphanet:420733 Combined oxidative phosphorylation defect type 21 semapv:UnspecifiedMatching MONDO:0014398 combined oxidative phosphorylation defect type 21 skos:exactMatch SCTID:763211004 semapv:UnspecifiedMatching MONDO:0014398 combined oxidative phosphorylation defect type 21 skos:exactMatch UMLS:C4706316 semapv:UnspecifiedMatching MONDO:0014399 ataxia-telangiectasia-like disorder 2 skos:exactMatch DOID:0081385 ataxia-telangiectasia-like disorder 2 semapv:UnspecifiedMatching MONDO:0014399 ataxia-telangiectasia-like disorder 2 skos:exactMatch MEDGEN:863113 semapv:UnspecifiedMatching MONDO:0014399 ataxia-telangiectasia-like disorder 2 skos:exactMatch OMIM:615919 ataxia-telangiectasia-like disorder 2 semapv:UnspecifiedMatching MONDO:0014399 ataxia-telangiectasia-like disorder 2 skos:exactMatch Orphanet:438134 PCNA-related progressive neurodegenerative photosensitivity syndrome semapv:UnspecifiedMatching MONDO:0014399 ataxia-telangiectasia-like disorder 2 skos:exactMatch UMLS:C4014676 semapv:UnspecifiedMatching MONDO:0014400 retinitis pigmentosa 70 skos:exactMatch DOID:0110392 retinitis pigmentosa 70 semapv:UnspecifiedMatching MONDO:0014400 retinitis pigmentosa 70 skos:exactMatch MEDGEN:863118 semapv:UnspecifiedMatching MONDO:0014400 retinitis pigmentosa 70 skos:exactMatch OMIM:615922 retinitis pigmentosa 70 semapv:UnspecifiedMatching MONDO:0014400 retinitis pigmentosa 70 skos:exactMatch UMLS:C4014681 semapv:UnspecifiedMatching MONDO:0014401 tall stature-scoliosis-macrodactyly of the great toes syndrome skos:exactMatch DOID:0070316 Miura type epiphyseal chondrodysplasia semapv:UnspecifiedMatching MONDO:0014401 tall stature-scoliosis-macrodactyly of the great toes syndrome skos:exactMatch MEDGEN:863127 semapv:UnspecifiedMatching MONDO:0014401 tall stature-scoliosis-macrodactyly of the great toes syndrome skos:exactMatch OMIM:615923 epiphyseal chondrodysplasia, miura type semapv:UnspecifiedMatching MONDO:0014401 tall stature-scoliosis-macrodactyly of the great toes syndrome skos:exactMatch Orphanet:329191 Tall stature-long halluces-multiple extra-epiphyses syndrome semapv:UnspecifiedMatching MONDO:0014401 tall stature-scoliosis-macrodactyly of the great toes syndrome skos:exactMatch UMLS:C4014690 semapv:UnspecifiedMatching MONDO:0014402 severe neurodegenerative syndrome with lipodystrophy skos:exactMatch MEDGEN:863137 semapv:UnspecifiedMatching MONDO:0014402 severe neurodegenerative syndrome with lipodystrophy skos:exactMatch OMIM:615924 encephalopathy, progressive, with or without lipodystrophy semapv:UnspecifiedMatching MONDO:0014402 severe neurodegenerative syndrome with lipodystrophy skos:exactMatch Orphanet:363400 Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndrome semapv:UnspecifiedMatching MONDO:0014402 severe neurodegenerative syndrome with lipodystrophy skos:exactMatch UMLS:C4014700 semapv:UnspecifiedMatching MONDO:0014403 short stature due to GHSR deficiency skos:exactMatch MEDGEN:1857733 semapv:UnspecifiedMatching MONDO:0014403 short stature due to GHSR deficiency skos:exactMatch OMIM:615925 growth hormone deficiency, isolated partial semapv:UnspecifiedMatching MONDO:0014403 short stature due to GHSR deficiency skos:exactMatch Orphanet:314811 Short stature due to GHSR deficiency semapv:UnspecifiedMatching MONDO:0014403 short stature due to GHSR deficiency skos:exactMatch SCTID:766817004 semapv:UnspecifiedMatching MONDO:0014403 short stature due to GHSR deficiency skos:exactMatch UMLS:C5887324 semapv:UnspecifiedMatching MONDO:0014404 Webb-Dattani syndrome skos:exactMatch MEDGEN:863145 semapv:UnspecifiedMatching MONDO:0014404 Webb-Dattani syndrome skos:exactMatch OMIM:615926 webb-dattani syndrome semapv:UnspecifiedMatching MONDO:0014404 Webb-Dattani syndrome skos:exactMatch UMLS:C4014708 semapv:UnspecifiedMatching MONDO:0014405 STING-associated vasculopathy with onset in infancy skos:exactMatch DOID:0111457 STING-associated vasculopathy with onset in infancy semapv:UnspecifiedMatching MONDO:0014405 STING-associated vasculopathy with onset in infancy skos:exactMatch MEDGEN:863159 semapv:UnspecifiedMatching MONDO:0014405 STING-associated vasculopathy with onset in infancy skos:exactMatch OMIM:615934 sting-associated vasculopathy, infantile-onset semapv:UnspecifiedMatching MONDO:0014405 STING-associated vasculopathy with onset in infancy skos:exactMatch Orphanet:425120 STING-associated vasculopathy with onset in infancy semapv:UnspecifiedMatching MONDO:0014405 STING-associated vasculopathy with onset in infancy skos:exactMatch SCTID:711164003 semapv:UnspecifiedMatching MONDO:0014405 STING-associated vasculopathy with onset in infancy skos:exactMatch UMLS:C4014722 semapv:UnspecifiedMatching MONDO:0014406 pancreatic agenesis 2 skos:exactMatch DOID:0060988 pancreatic agenesis 2 semapv:UnspecifiedMatching MONDO:0014406 pancreatic agenesis 2 skos:exactMatch MEDGEN:863174 semapv:UnspecifiedMatching MONDO:0014406 pancreatic agenesis 2 skos:exactMatch OMIM:615935 pancreatic agenesis 2 semapv:UnspecifiedMatching MONDO:0014406 pancreatic agenesis 2 skos:exactMatch UMLS:C4014737 semapv:UnspecifiedMatching MONDO:0014407 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 skos:exactMatch MEDGEN:863175 semapv:UnspecifiedMatching MONDO:0014407 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 skos:exactMatch OMIM:615937 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 semapv:UnspecifiedMatching MONDO:0014407 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 skos:exactMatch UMLS:C4014738 semapv:UnspecifiedMatching MONDO:0014408 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 skos:exactMatch MEDGEN:863179 semapv:UnspecifiedMatching MONDO:0014408 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 skos:exactMatch OMIM:615938 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 semapv:UnspecifiedMatching MONDO:0014408 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 skos:exactMatch UMLS:C4014742 semapv:UnspecifiedMatching MONDO:0014409 intellectual disability, autosomal recessive 44 skos:exactMatch DOID:0081208 autosomal recessive intellectual developmental disorder 44 semapv:UnspecifiedMatching MONDO:0014409 intellectual disability, autosomal recessive 44 skos:exactMatch MEDGEN:863182 semapv:UnspecifiedMatching MONDO:0014409 intellectual disability, autosomal recessive 44 skos:exactMatch OMIM:615942 intellectual developmental disorder, autosomal recessive 44 semapv:UnspecifiedMatching MONDO:0014409 intellectual disability, autosomal recessive 44 skos:exactMatch UMLS:C4014745 semapv:UnspecifiedMatching MONDO:0014410 spinocerebellar ataxia type 37 skos:exactMatch DOID:0050984 spinocerebellar ataxia 37 semapv:UnspecifiedMatching MONDO:0014410 spinocerebellar ataxia type 37 skos:exactMatch MEDGEN:855217 semapv:UnspecifiedMatching MONDO:0014410 spinocerebellar ataxia type 37 skos:exactMatch OMIM:615945 spinocerebellar ataxia 37 semapv:UnspecifiedMatching MONDO:0014410 spinocerebellar ataxia type 37 skos:exactMatch Orphanet:363710 Spinocerebellar ataxia type 37 semapv:UnspecifiedMatching MONDO:0014410 spinocerebellar ataxia type 37 skos:exactMatch SCTID:719301002 semapv:UnspecifiedMatching MONDO:0014410 spinocerebellar ataxia type 37 skos:exactMatch UMLS:C3889636 semapv:UnspecifiedMatching MONDO:0014411 myopia 24, autosomal dominant skos:exactMatch MEDGEN:863199 semapv:UnspecifiedMatching MONDO:0014411 myopia 24, autosomal dominant skos:exactMatch OMIM:615946 myopia 24, autosomal dominant semapv:UnspecifiedMatching MONDO:0014411 myopia 24, autosomal dominant skos:exactMatch UMLS:C4014762 semapv:UnspecifiedMatching MONDO:0014412 hyperlipoproteinemia, type 1D skos:exactMatch DOID:0111420 familial GPIHBP1 deficiency semapv:UnspecifiedMatching MONDO:0014412 hyperlipoproteinemia, type 1D skos:exactMatch MEDGEN:863204 semapv:UnspecifiedMatching MONDO:0014412 hyperlipoproteinemia, type 1D skos:exactMatch OMIM:615947 hyperlipoproteinemia, type 1d semapv:UnspecifiedMatching MONDO:0014412 hyperlipoproteinemia, type 1D skos:exactMatch Orphanet:535458 Familial GPIHBP1 deficiency semapv:UnspecifiedMatching MONDO:0014412 hyperlipoproteinemia, type 1D skos:exactMatch UMLS:C4014767 semapv:UnspecifiedMatching MONDO:0014413 orofaciodigital syndrome type 14 skos:exactMatch DOID:0060958 orofaciodigital syndrome XIV semapv:UnspecifiedMatching MONDO:0014413 orofaciodigital syndrome type 14 skos:exactMatch MEDGEN:1635470 semapv:UnspecifiedMatching MONDO:0014413 orofaciodigital syndrome type 14 skos:exactMatch OMIM:615948 orofaciodigital syndrome 14 semapv:UnspecifiedMatching MONDO:0014413 orofaciodigital syndrome type 14 skos:exactMatch Orphanet:434179 Orofaciodigital syndrome type 14 semapv:UnspecifiedMatching MONDO:0014413 orofaciodigital syndrome type 14 skos:exactMatch SCTID:763837007 semapv:UnspecifiedMatching MONDO:0014413 orofaciodigital syndrome type 14 skos:exactMatch UMLS:C4706604 semapv:UnspecifiedMatching MONDO:0014414 STAT3-related early-onset multisystem autoimmune disease skos:exactMatch DOID:0061160 infantile onset multisystem autoimmune disease 1 semapv:UnspecifiedMatching MONDO:0014414 STAT3-related early-onset multisystem autoimmune disease skos:exactMatch MEDGEN:863232 semapv:UnspecifiedMatching MONDO:0014414 STAT3-related early-onset multisystem autoimmune disease skos:exactMatch NCIT:C157123 Infantile-Onset Multisystem Autoimmune Disease 1 semapv:UnspecifiedMatching MONDO:0014414 STAT3-related early-onset multisystem autoimmune disease skos:exactMatch OMIM:615952 autoimmune disease, multisystem, infantile-onset, 1 semapv:UnspecifiedMatching MONDO:0014414 STAT3-related early-onset multisystem autoimmune disease skos:exactMatch Orphanet:438159 STAT3-related early-onset multisystem autoimmune disease semapv:UnspecifiedMatching MONDO:0014414 STAT3-related early-onset multisystem autoimmune disease skos:exactMatch UMLS:C4014795 semapv:UnspecifiedMatching MONDO:0014415 kallikrein, decreased urinary activity of skos:exactMatch MEDGEN:322759 semapv:UnspecifiedMatching MONDO:0014415 kallikrein, decreased urinary activity of skos:exactMatch OMIM:615953 kallikrein, decreased urinary activity of semapv:UnspecifiedMatching MONDO:0014415 kallikrein, decreased urinary activity of skos:exactMatch UMLS:C1835808 semapv:UnspecifiedMatching MONDO:0014415 kallikrein, decreased urinary activity of skos:exactMatch mesh:C563653 semapv:UnspecifiedMatching MONDO:0014416 ACTH-independent macronodular adrenal hyperplasia 2 skos:exactMatch DOID:0111624 ACTH-independent macronodular adrenal hyperplasia 2 semapv:UnspecifiedMatching MONDO:0014416 ACTH-independent macronodular adrenal hyperplasia 2 skos:exactMatch MEDGEN:863240 semapv:UnspecifiedMatching MONDO:0014416 ACTH-independent macronodular adrenal hyperplasia 2 skos:exactMatch OMIM:615954 acth-independent macronodular adrenal hyperplasia 2 semapv:UnspecifiedMatching MONDO:0014416 ACTH-independent macronodular adrenal hyperplasia 2 skos:exactMatch UMLS:C4014803 semapv:UnspecifiedMatching MONDO:0014417 spinocerebellar ataxia type 38 skos:exactMatch DOID:0050985 spinocerebellar ataxia 38 semapv:UnspecifiedMatching MONDO:0014417 spinocerebellar ataxia type 38 skos:exactMatch MEDGEN:1379865 semapv:UnspecifiedMatching MONDO:0014417 spinocerebellar ataxia type 38 skos:exactMatch OMIM:615957 spinocerebellar ataxia 38 semapv:UnspecifiedMatching MONDO:0014417 spinocerebellar ataxia type 38 skos:exactMatch Orphanet:423296 Spinocerebellar ataxia type 38 semapv:UnspecifiedMatching MONDO:0014417 spinocerebellar ataxia type 38 skos:exactMatch SCTID:734021001 semapv:UnspecifiedMatching MONDO:0014417 spinocerebellar ataxia type 38 skos:exactMatch UMLS:C4518337 semapv:UnspecifiedMatching MONDO:0014418 myopathy, centronuclear, 5 skos:exactMatch DOID:0111222 centronuclear myopathy 5 semapv:UnspecifiedMatching MONDO:0014418 myopathy, centronuclear, 5 skos:exactMatch MEDGEN:863251 semapv:UnspecifiedMatching MONDO:0014418 myopathy, centronuclear, 5 skos:exactMatch OMIM:615959 myopathy, centronuclear, 5 semapv:UnspecifiedMatching MONDO:0014418 myopathy, centronuclear, 5 skos:exactMatch UMLS:C4014814 semapv:UnspecifiedMatching MONDO:0014419 ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome skos:exactMatch MEDGEN:863258 semapv:UnspecifiedMatching MONDO:0014419 ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome skos:exactMatch OMIM:615960 poretti-boltshauser syndrome semapv:UnspecifiedMatching MONDO:0014419 ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome skos:exactMatch Orphanet:370022 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome semapv:UnspecifiedMatching MONDO:0014419 ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome skos:exactMatch UMLS:C4014821 semapv:UnspecifiedMatching MONDO:0014420 short stature due to primary acid-labile subunit deficiency skos:exactMatch MEDGEN:859716 semapv:UnspecifiedMatching MONDO:0014420 short stature due to primary acid-labile subunit deficiency skos:exactMatch OMIM:615961 acid-labile subunit deficiency semapv:UnspecifiedMatching MONDO:0014420 short stature due to primary acid-labile subunit deficiency skos:exactMatch Orphanet:140941 Short stature due to primary acid-labile subunit deficiency semapv:UnspecifiedMatching MONDO:0014420 short stature due to primary acid-labile subunit deficiency skos:exactMatch SCTID:721074002 semapv:UnspecifiedMatching MONDO:0014420 short stature due to primary acid-labile subunit deficiency skos:exactMatch UMLS:C3900122 semapv:UnspecifiedMatching MONDO:0014420 short stature due to primary acid-labile subunit deficiency skos:exactMatch icd11.foundation:29735645 Short stature due to primary acid-labile subunit deficiency semapv:UnspecifiedMatching MONDO:0014421 glucocorticoid resistance skos:exactMatch MEDGEN:333960 semapv:UnspecifiedMatching MONDO:0014421 glucocorticoid resistance skos:exactMatch OMIM:615962 glucocorticoid resistance, generalized semapv:UnspecifiedMatching MONDO:0014421 glucocorticoid resistance skos:exactMatch Orphanet:786 Generalized glucocorticoid resistance syndrome semapv:UnspecifiedMatching MONDO:0014421 glucocorticoid resistance skos:exactMatch UMLS:C1841972 semapv:UnspecifiedMatching MONDO:0014421 glucocorticoid resistance skos:exactMatch icd11.foundation:125216923 Glucocorticoid resistance semapv:UnspecifiedMatching MONDO:0014421 glucocorticoid resistance skos:exactMatch mesh:C564221 semapv:UnspecifiedMatching MONDO:0014422 vesicoureteral reflux 8 skos:exactMatch MEDGEN:863268 semapv:UnspecifiedMatching MONDO:0014422 vesicoureteral reflux 8 skos:exactMatch OMIM:615963 vesicoureteral reflux 8 semapv:UnspecifiedMatching MONDO:0014422 vesicoureteral reflux 8 skos:exactMatch UMLS:C4014831 semapv:UnspecifiedMatching MONDO:0014423 severe combined immunodeficiency due to DNA-PKcs deficiency skos:exactMatch DOID:0111961 immunodeficiency 26 semapv:UnspecifiedMatching MONDO:0014423 severe combined immunodeficiency due to DNA-PKcs deficiency skos:exactMatch MEDGEN:863270 semapv:UnspecifiedMatching MONDO:0014423 severe combined immunodeficiency due to DNA-PKcs deficiency skos:exactMatch OMIM:615966 immunodeficiency 26 with or without neurologic abnormalities semapv:UnspecifiedMatching MONDO:0014423 severe combined immunodeficiency due to DNA-PKcs deficiency skos:exactMatch Orphanet:317425 Severe combined immunodeficiency due to DNA-PKcs deficiency semapv:UnspecifiedMatching MONDO:0014423 severe combined immunodeficiency due to DNA-PKcs deficiency skos:exactMatch SCTID:716871006 semapv:UnspecifiedMatching MONDO:0014423 severe combined immunodeficiency due to DNA-PKcs deficiency skos:exactMatch UMLS:C4014833 semapv:UnspecifiedMatching MONDO:0014424 obsolete congenital deficiency in alpha-fetoprotein skos:exactMatch OMIM:615969 alpha-fetoprotein deficiency semapv:UnspecifiedMatching MONDO:0014424 obsolete congenital deficiency in alpha-fetoprotein skos:exactMatch Orphanet:168612 Congenital deficiency in alpha-fetoprotein semapv:UnspecifiedMatching MONDO:0014424 obsolete congenital deficiency in alpha-fetoprotein skos:exactMatch mesh:C566300 semapv:UnspecifiedMatching MONDO:0014425 obsolete hereditary persistence of alpha-fetoprotein skos:exactMatch OMIM:615970 alpha-fetoprotein, hereditary persistence of semapv:UnspecifiedMatching MONDO:0014425 obsolete hereditary persistence of alpha-fetoprotein skos:exactMatch Orphanet:168615 Hereditary persistence of alpha-fetoprotein semapv:UnspecifiedMatching MONDO:0014425 obsolete hereditary persistence of alpha-fetoprotein skos:exactMatch SCTID:716697002 semapv:UnspecifiedMatching MONDO:0014426 nanophthalmos 4 skos:exactMatch MEDGEN:863285 semapv:UnspecifiedMatching MONDO:0014426 nanophthalmos 4 skos:exactMatch OMIM:615972 nanophthalmos 4 semapv:UnspecifiedMatching MONDO:0014426 nanophthalmos 4 skos:exactMatch UMLS:C4014848 semapv:UnspecifiedMatching MONDO:0014427 cone-rod dystrophy 20 skos:exactMatch DOID:0111026 cone-rod dystrophy 20 semapv:UnspecifiedMatching MONDO:0014427 cone-rod dystrophy 20 skos:exactMatch MEDGEN:863293 semapv:UnspecifiedMatching MONDO:0014427 cone-rod dystrophy 20 skos:exactMatch OMIM:615973 cone-rod dystrophy 20 semapv:UnspecifiedMatching MONDO:0014427 cone-rod dystrophy 20 skos:exactMatch UMLS:C4014856 semapv:UnspecifiedMatching MONDO:0014428 autosomal recessive nonsyndromic hearing loss 102 skos:exactMatch DOID:0110463 autosomal recessive nonsyndromic deafness 102 semapv:UnspecifiedMatching MONDO:0014428 autosomal recessive nonsyndromic hearing loss 102 skos:exactMatch MEDGEN:856149 semapv:UnspecifiedMatching MONDO:0014428 autosomal recessive nonsyndromic hearing loss 102 skos:exactMatch OMIM:615974 deafness, autosomal recessive 102 semapv:UnspecifiedMatching MONDO:0014428 autosomal recessive nonsyndromic hearing loss 102 skos:exactMatch UMLS:C3892050 semapv:UnspecifiedMatching MONDO:0014429 autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency skos:exactMatch DOID:0111956 immunodeficiency 27B semapv:UnspecifiedMatching MONDO:0014429 autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency skos:exactMatch MEDGEN:863300 semapv:UnspecifiedMatching MONDO:0014429 autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency skos:exactMatch OMIM:615978 immunodeficiency 27b semapv:UnspecifiedMatching MONDO:0014429 autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency skos:exactMatch Orphanet:319581 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency semapv:UnspecifiedMatching MONDO:0014429 autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency skos:exactMatch UMLS:C4014863 semapv:UnspecifiedMatching MONDO:0014430 intellectual disability, autosomal recessive 45 skos:exactMatch DOID:0081209 autosomal recessive intellectual developmental disorder 45 semapv:UnspecifiedMatching MONDO:0014430 intellectual disability, autosomal recessive 45 skos:exactMatch MEDGEN:863301 semapv:UnspecifiedMatching MONDO:0014430 intellectual disability, autosomal recessive 45 skos:exactMatch OMIM:615979 intellectual developmental disorder, autosomal recessive 45 semapv:UnspecifiedMatching MONDO:0014430 intellectual disability, autosomal recessive 45 skos:exactMatch UMLS:C4014864 semapv:UnspecifiedMatching MONDO:0014431 LIPE-related familial partial lipodystrophy skos:exactMatch DOID:0070206 familial partial lipodystrophy type 6 semapv:UnspecifiedMatching MONDO:0014431 LIPE-related familial partial lipodystrophy skos:exactMatch MEDGEN:863306 semapv:UnspecifiedMatching MONDO:0014431 LIPE-related familial partial lipodystrophy skos:exactMatch OMIM:615980 lipodystrophy, familial partial, type 6 semapv:UnspecifiedMatching MONDO:0014431 LIPE-related familial partial lipodystrophy skos:exactMatch Orphanet:435660 LIPE-related familial partial lipodystrophy semapv:UnspecifiedMatching MONDO:0014431 LIPE-related familial partial lipodystrophy skos:exactMatch UMLS:C4014869 semapv:UnspecifiedMatching MONDO:0014432 Bardet-Biedl syndrome 2 skos:exactMatch DOID:0110124 Bardet-Biedl syndrome 2 semapv:UnspecifiedMatching MONDO:0014432 Bardet-Biedl syndrome 2 skos:exactMatch MEDGEN:422453 semapv:UnspecifiedMatching MONDO:0014432 Bardet-Biedl syndrome 2 skos:exactMatch OMIM:615981 bardet-biedl syndrome 2 semapv:UnspecifiedMatching MONDO:0014432 Bardet-Biedl syndrome 2 skos:exactMatch UMLS:C2936863 semapv:UnspecifiedMatching MONDO:0014432 Bardet-Biedl syndrome 2 skos:exactMatch mesh:C537910 semapv:UnspecifiedMatching MONDO:0014433 Bardet-Biedl syndrome 4 skos:exactMatch DOID:0110126 Bardet-Biedl syndrome 4 semapv:UnspecifiedMatching MONDO:0014433 Bardet-Biedl syndrome 4 skos:exactMatch MEDGEN:423627 semapv:UnspecifiedMatching MONDO:0014433 Bardet-Biedl syndrome 4 skos:exactMatch OMIM:615982 bardet-biedl syndrome 4 semapv:UnspecifiedMatching MONDO:0014433 Bardet-Biedl syndrome 4 skos:exactMatch UMLS:C2936864 semapv:UnspecifiedMatching MONDO:0014433 Bardet-Biedl syndrome 4 skos:exactMatch mesh:C537912 semapv:UnspecifiedMatching MONDO:0014434 Bardet-Biedl syndrome 5 skos:exactMatch DOID:0110127 Bardet-Biedl syndrome 5 semapv:UnspecifiedMatching MONDO:0014434 Bardet-Biedl syndrome 5 skos:exactMatch MEDGEN:856141 semapv:UnspecifiedMatching MONDO:0014434 Bardet-Biedl syndrome 5 skos:exactMatch OMIM:615983 bardet-biedl syndrome 5 semapv:UnspecifiedMatching MONDO:0014434 Bardet-Biedl syndrome 5 skos:exactMatch UMLS:C3892039 semapv:UnspecifiedMatching MONDO:0014435 Bardet-Biedl syndrome 7 skos:exactMatch DOID:0110129 Bardet-Biedl syndrome 7 semapv:UnspecifiedMatching MONDO:0014435 Bardet-Biedl syndrome 7 skos:exactMatch MEDGEN:347180 semapv:UnspecifiedMatching MONDO:0014435 Bardet-Biedl syndrome 7 skos:exactMatch OMIM:615984 bardet-biedl syndrome 7 semapv:UnspecifiedMatching MONDO:0014435 Bardet-Biedl syndrome 7 skos:exactMatch UMLS:C1859565 semapv:UnspecifiedMatching MONDO:0014435 Bardet-Biedl syndrome 7 skos:exactMatch mesh:C565916 semapv:UnspecifiedMatching MONDO:0014436 Bardet-Biedl syndrome 8 skos:exactMatch DOID:0110130 Bardet-Biedl syndrome 8 semapv:UnspecifiedMatching MONDO:0014436 Bardet-Biedl syndrome 8 skos:exactMatch MEDGEN:347181 semapv:UnspecifiedMatching MONDO:0014436 Bardet-Biedl syndrome 8 skos:exactMatch OMIM:615985 bardet-biedl syndrome 8 semapv:UnspecifiedMatching MONDO:0014436 Bardet-Biedl syndrome 8 skos:exactMatch UMLS:C1859566 semapv:UnspecifiedMatching MONDO:0014436 Bardet-Biedl syndrome 8 skos:exactMatch mesh:C565917 semapv:UnspecifiedMatching MONDO:0014437 Bardet-Biedl syndrome 9 skos:exactMatch DOID:0110131 Bardet-Biedl syndrome 9 semapv:UnspecifiedMatching MONDO:0014437 Bardet-Biedl syndrome 9 skos:exactMatch MEDGEN:347182 semapv:UnspecifiedMatching MONDO:0014437 Bardet-Biedl syndrome 9 skos:exactMatch OMIM:615986 bardet-biedl syndrome 9 semapv:UnspecifiedMatching MONDO:0014437 Bardet-Biedl syndrome 9 skos:exactMatch UMLS:C1859567 semapv:UnspecifiedMatching MONDO:0014437 Bardet-Biedl syndrome 9 skos:exactMatch mesh:C565918 semapv:UnspecifiedMatching MONDO:0014438 Bardet-Biedl syndrome 10 skos:exactMatch DOID:0110132 Bardet-Biedl syndrome 10 semapv:UnspecifiedMatching MONDO:0014438 Bardet-Biedl syndrome 10 skos:exactMatch MEDGEN:347909 semapv:UnspecifiedMatching MONDO:0014438 Bardet-Biedl syndrome 10 skos:exactMatch OMIM:615987 bardet-biedl syndrome 10 semapv:UnspecifiedMatching MONDO:0014438 Bardet-Biedl syndrome 10 skos:exactMatch UMLS:C1859568 semapv:UnspecifiedMatching MONDO:0014438 Bardet-Biedl syndrome 10 skos:exactMatch mesh:C565919 semapv:UnspecifiedMatching MONDO:0014439 Bardet-Biedl syndrome 11 skos:exactMatch DOID:0110133 Bardet-Biedl syndrome 11 semapv:UnspecifiedMatching MONDO:0014439 Bardet-Biedl syndrome 11 skos:exactMatch MEDGEN:395295 semapv:UnspecifiedMatching MONDO:0014439 Bardet-Biedl syndrome 11 skos:exactMatch OMIM:615988 bardet-biedl syndrome 11 semapv:UnspecifiedMatching MONDO:0014439 Bardet-Biedl syndrome 11 skos:exactMatch UMLS:C1859569 semapv:UnspecifiedMatching MONDO:0014439 Bardet-Biedl syndrome 11 skos:exactMatch mesh:C565920 semapv:UnspecifiedMatching MONDO:0014440 Bardet-Biedl syndrome 12 skos:exactMatch DOID:0110134 Bardet-Biedl syndrome 12 semapv:UnspecifiedMatching MONDO:0014440 Bardet-Biedl syndrome 12 skos:exactMatch MEDGEN:347910 semapv:UnspecifiedMatching MONDO:0014440 Bardet-Biedl syndrome 12 skos:exactMatch OMIM:615989 bardet-biedl syndrome 12 semapv:UnspecifiedMatching MONDO:0014440 Bardet-Biedl syndrome 12 skos:exactMatch UMLS:C1859570 semapv:UnspecifiedMatching MONDO:0014440 Bardet-Biedl syndrome 12 skos:exactMatch mesh:C565921 semapv:UnspecifiedMatching MONDO:0014441 Bardet-Biedl syndrome 13 skos:exactMatch DOID:0110135 Bardet-Biedl syndrome 13 semapv:UnspecifiedMatching MONDO:0014441 Bardet-Biedl syndrome 13 skos:exactMatch MEDGEN:393032 semapv:UnspecifiedMatching MONDO:0014441 Bardet-Biedl syndrome 13 skos:exactMatch OMIM:615990 bardet-biedl syndrome 13 semapv:UnspecifiedMatching MONDO:0014441 Bardet-Biedl syndrome 13 skos:exactMatch UMLS:C2673873 semapv:UnspecifiedMatching MONDO:0014441 Bardet-Biedl syndrome 13 skos:exactMatch mesh:C567140 semapv:UnspecifiedMatching MONDO:0014442 Bardet-Biedl syndrome 14 skos:exactMatch DOID:0110136 Bardet-Biedl syndrome 14 semapv:UnspecifiedMatching MONDO:0014442 Bardet-Biedl syndrome 14 skos:exactMatch MEDGEN:393033 semapv:UnspecifiedMatching MONDO:0014442 Bardet-Biedl syndrome 14 skos:exactMatch OMIM:615991 bardet-biedl syndrome 14 semapv:UnspecifiedMatching MONDO:0014442 Bardet-Biedl syndrome 14 skos:exactMatch UMLS:C2673874 semapv:UnspecifiedMatching MONDO:0014442 Bardet-Biedl syndrome 14 skos:exactMatch mesh:C567141 semapv:UnspecifiedMatching MONDO:0014443 Bardet-Biedl syndrome 15 skos:exactMatch DOID:0110137 Bardet-Biedl syndrome 15 semapv:UnspecifiedMatching MONDO:0014443 Bardet-Biedl syndrome 15 skos:exactMatch MEDGEN:461477 semapv:UnspecifiedMatching MONDO:0014443 Bardet-Biedl syndrome 15 skos:exactMatch OMIM:615992 bardet-biedl syndrome 15 semapv:UnspecifiedMatching MONDO:0014443 Bardet-Biedl syndrome 15 skos:exactMatch UMLS:C3150127 semapv:UnspecifiedMatching MONDO:0014444 Bardet-Biedl syndrome 16 skos:exactMatch DOID:0110138 Bardet-Biedl syndrome 16 semapv:UnspecifiedMatching MONDO:0014444 Bardet-Biedl syndrome 16 skos:exactMatch MEDGEN:855172 semapv:UnspecifiedMatching MONDO:0014444 Bardet-Biedl syndrome 16 skos:exactMatch OMIM:615993 bardet-biedl syndrome 16 semapv:UnspecifiedMatching MONDO:0014444 Bardet-Biedl syndrome 16 skos:exactMatch UMLS:C3889474 semapv:UnspecifiedMatching MONDO:0014445 Bardet-Biedl syndrome 17 skos:exactMatch DOID:0110139 Bardet-Biedl syndrome 17 semapv:UnspecifiedMatching MONDO:0014445 Bardet-Biedl syndrome 17 skos:exactMatch MEDGEN:811538 semapv:UnspecifiedMatching MONDO:0014445 Bardet-Biedl syndrome 17 skos:exactMatch OMIM:615994 bardet-biedl syndrome 17 semapv:UnspecifiedMatching MONDO:0014445 Bardet-Biedl syndrome 17 skos:exactMatch UMLS:C3714980 semapv:UnspecifiedMatching MONDO:0014446 Bardet-Biedl syndrome 18 skos:exactMatch DOID:0110140 Bardet-Biedl syndrome 18 semapv:UnspecifiedMatching MONDO:0014446 Bardet-Biedl syndrome 18 skos:exactMatch MEDGEN:812504 semapv:UnspecifiedMatching MONDO:0014446 Bardet-Biedl syndrome 18 skos:exactMatch OMIM:615995 bardet-biedl syndrome 18 semapv:UnspecifiedMatching MONDO:0014446 Bardet-Biedl syndrome 18 skos:exactMatch UMLS:C3806174 semapv:UnspecifiedMatching MONDO:0014447 Bardet-Biedl syndrome 19 skos:exactMatch DOID:0110141 Bardet-Biedl syndrome 19 semapv:UnspecifiedMatching MONDO:0014447 Bardet-Biedl syndrome 19 skos:exactMatch MEDGEN:855173 semapv:UnspecifiedMatching MONDO:0014447 Bardet-Biedl syndrome 19 skos:exactMatch OMIM:615996 bardet-biedl syndrome 19 semapv:UnspecifiedMatching MONDO:0014447 Bardet-Biedl syndrome 19 skos:exactMatch UMLS:C3889475 semapv:UnspecifiedMatching MONDO:0014448 hyperthyroxinemia, familial dysalbuminemic skos:exactMatch MEDGEN:90974 semapv:UnspecifiedMatching MONDO:0014448 hyperthyroxinemia, familial dysalbuminemic skos:exactMatch NCIT:C131813 Familial Dysalbuminemic Hyperthyroidism semapv:UnspecifiedMatching MONDO:0014448 hyperthyroxinemia, familial dysalbuminemic skos:exactMatch OMIM:615999 hyperthyroxinemia, familial dysalbuminemic semapv:UnspecifiedMatching MONDO:0014448 hyperthyroxinemia, familial dysalbuminemic skos:exactMatch SCTID:237547004 semapv:UnspecifiedMatching MONDO:0014448 hyperthyroxinemia, familial dysalbuminemic skos:exactMatch UMLS:C0342185 semapv:UnspecifiedMatching MONDO:0014448 hyperthyroxinemia, familial dysalbuminemic skos:exactMatch mesh:D050010 semapv:UnspecifiedMatching MONDO:0014449 congenital analbuminemia skos:exactMatch MEDGEN:930922 semapv:UnspecifiedMatching MONDO:0014449 congenital analbuminemia skos:exactMatch NCIT:C124851 Analbuminemia semapv:UnspecifiedMatching MONDO:0014449 congenital analbuminemia skos:exactMatch OMIM:616000 analbuminemia semapv:UnspecifiedMatching MONDO:0014449 congenital analbuminemia skos:exactMatch Orphanet:86816 Congenital analbuminemia semapv:UnspecifiedMatching MONDO:0014449 congenital analbuminemia skos:exactMatch SCTID:718721006 semapv:UnspecifiedMatching MONDO:0014449 congenital analbuminemia skos:exactMatch UMLS:C4305253 semapv:UnspecifiedMatching MONDO:0014450 breasts and/or nipples, aplasia or hypoplasia of, 2 skos:exactMatch MEDGEN:863355 semapv:UnspecifiedMatching MONDO:0014450 breasts and/or nipples, aplasia or hypoplasia of, 2 skos:exactMatch OMIM:616001 breasts and/or nipples, aplasia or hypoplasia of, 2 semapv:UnspecifiedMatching MONDO:0014450 breasts and/or nipples, aplasia or hypoplasia of, 2 skos:exactMatch UMLS:C4014918 semapv:UnspecifiedMatching MONDO:0014451 focal segmental glomerulosclerosis 7 skos:exactMatch DOID:0111132 focal segmental glomerulosclerosis 7 semapv:UnspecifiedMatching MONDO:0014451 focal segmental glomerulosclerosis 7 skos:exactMatch MEDGEN:863362 semapv:UnspecifiedMatching MONDO:0014451 focal segmental glomerulosclerosis 7 skos:exactMatch OMIM:616002 focal segmental glomerulosclerosis 7 semapv:UnspecifiedMatching MONDO:0014451 focal segmental glomerulosclerosis 7 skos:exactMatch UMLS:C4014925 semapv:UnspecifiedMatching MONDO:0014452 familial dysfibrinogenemia skos:exactMatch MEDGEN:82901 semapv:UnspecifiedMatching MONDO:0014452 familial dysfibrinogenemia skos:exactMatch NCIT:C131659 Dysfibrinogenemia semapv:UnspecifiedMatching MONDO:0014452 familial dysfibrinogenemia skos:exactMatch OMIM:616004 dysfibrinogenemia, congenital semapv:UnspecifiedMatching MONDO:0014452 familial dysfibrinogenemia skos:exactMatch Orphanet:98881 Familial dysfibrinogenemia semapv:UnspecifiedMatching MONDO:0014452 familial dysfibrinogenemia skos:exactMatch SCTID:111589005 semapv:UnspecifiedMatching MONDO:0014452 familial dysfibrinogenemia skos:exactMatch UMLS:C0272350 semapv:UnspecifiedMatching MONDO:0014453 immunodeficiency 36 with lymphoproliferation skos:exactMatch DOID:0111949 immunodeficiency 36 semapv:UnspecifiedMatching MONDO:0014453 immunodeficiency 36 with lymphoproliferation skos:exactMatch MEDGEN:863371 semapv:UnspecifiedMatching MONDO:0014453 immunodeficiency 36 with lymphoproliferation skos:exactMatch OMIM:616005 immunodeficiency 36 with lymphoproliferation semapv:UnspecifiedMatching MONDO:0014453 immunodeficiency 36 with lymphoproliferation skos:exactMatch Orphanet:693681 Activated PI3K-delta syndrome 2 semapv:UnspecifiedMatching MONDO:0014453 immunodeficiency 36 with lymphoproliferation skos:exactMatch UMLS:C4014934 semapv:UnspecifiedMatching MONDO:0014454 Hennekam lymphangiectasia-lymphedema syndrome 2 skos:exactMatch MEDGEN:863376 semapv:UnspecifiedMatching MONDO:0014454 Hennekam lymphangiectasia-lymphedema syndrome 2 skos:exactMatch OMIM:616006 hennekam lymphangiectasia-lymphedema syndrome 2 semapv:UnspecifiedMatching MONDO:0014454 Hennekam lymphangiectasia-lymphedema syndrome 2 skos:exactMatch UMLS:C4014939 semapv:UnspecifiedMatching MONDO:0014455 cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome skos:exactMatch MEDGEN:863379 semapv:UnspecifiedMatching MONDO:0014455 cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome skos:exactMatch OMIM:616007 cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia semapv:UnspecifiedMatching MONDO:0014455 cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome skos:exactMatch Orphanet:436174 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome semapv:UnspecifiedMatching MONDO:0014455 cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome skos:exactMatch UMLS:C4014942 semapv:UnspecifiedMatching MONDO:0014456 autosomal recessive severe congenital neutropenia due to JAGN1 deficiency skos:exactMatch DOID:0112134 severe congenital neutropenia 6 semapv:UnspecifiedMatching MONDO:0014456 autosomal recessive severe congenital neutropenia due to JAGN1 deficiency skos:exactMatch MEDGEN:863391 semapv:UnspecifiedMatching MONDO:0014456 autosomal recessive severe congenital neutropenia due to JAGN1 deficiency skos:exactMatch OMIM:616022 neutropenia, severe congenital, 6, autosomal recessive semapv:UnspecifiedMatching MONDO:0014456 autosomal recessive severe congenital neutropenia due to JAGN1 deficiency skos:exactMatch Orphanet:423384 Severe congenital neutropenia due to JAGN1 deficiency semapv:UnspecifiedMatching MONDO:0014456 autosomal recessive severe congenital neutropenia due to JAGN1 deficiency skos:exactMatch UMLS:C4014954 semapv:UnspecifiedMatching MONDO:0014457 hyperphosphatasia with intellectual disability syndrome 5 skos:exactMatch DOID:0070432 hyperphosphatasia with impaired intellectual development syndrome 5 semapv:UnspecifiedMatching MONDO:0014457 hyperphosphatasia with intellectual disability syndrome 5 skos:exactMatch MEDGEN:863395 semapv:UnspecifiedMatching MONDO:0014457 hyperphosphatasia with intellectual disability syndrome 5 skos:exactMatch OMIM:616025 glycosylphosphatidylinositol biosynthesis defect 11 semapv:UnspecifiedMatching MONDO:0014457 hyperphosphatasia with intellectual disability syndrome 5 skos:exactMatch UMLS:C4014958 semapv:UnspecifiedMatching MONDO:0014458 Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young skos:exactMatch DOID:0080760 Fanconi renotubular syndrome 4 semapv:UnspecifiedMatching MONDO:0014458 Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young skos:exactMatch MEDGEN:863399 semapv:UnspecifiedMatching MONDO:0014458 Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young skos:exactMatch OMIM:616026 fanconi renotubular syndrome 4 with maturity-onset diabetes of the young semapv:UnspecifiedMatching MONDO:0014458 Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young skos:exactMatch UMLS:C4014962 semapv:UnspecifiedMatching MONDO:0014459 Adams-Oliver syndrome 5 skos:exactMatch MEDGEN:863407 semapv:UnspecifiedMatching MONDO:0014459 Adams-Oliver syndrome 5 skos:exactMatch OMIM:616028 adams-oliver syndrome 5 semapv:UnspecifiedMatching MONDO:0014459 Adams-Oliver syndrome 5 skos:exactMatch UMLS:C4014970 semapv:UnspecifiedMatching MONDO:0014460 nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome skos:exactMatch MEDGEN:863424 semapv:UnspecifiedMatching MONDO:0014460 nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome skos:exactMatch OMIM:616029 ectodermal dysplasia/short stature syndrome semapv:UnspecifiedMatching MONDO:0014460 nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome skos:exactMatch Orphanet:423454 Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome semapv:UnspecifiedMatching MONDO:0014460 nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome skos:exactMatch UMLS:C4014987 semapv:UnspecifiedMatching MONDO:0014461 hypogonadotropic hypogonadism 22 with or without anosmia skos:exactMatch DOID:0090081 hypogonadotropic hypogonadism 22 with or without anosmia semapv:UnspecifiedMatching MONDO:0014461 hypogonadotropic hypogonadism 22 with or without anosmia skos:exactMatch MEDGEN:863425 semapv:UnspecifiedMatching MONDO:0014461 hypogonadotropic hypogonadism 22 with or without anosmia skos:exactMatch OMIM:616030 hypogonadotropic hypogonadism 22 with or without anosmia semapv:UnspecifiedMatching MONDO:0014461 hypogonadotropic hypogonadism 22 with or without anosmia skos:exactMatch UMLS:C4014988 semapv:UnspecifiedMatching MONDO:0014462 focal segmental glomerulosclerosis 8 skos:exactMatch DOID:0111133 focal segmental glomerulosclerosis 8 semapv:UnspecifiedMatching MONDO:0014462 focal segmental glomerulosclerosis 8 skos:exactMatch MEDGEN:863430 semapv:UnspecifiedMatching MONDO:0014462 focal segmental glomerulosclerosis 8 skos:exactMatch OMIM:616032 focal segmental glomerulosclerosis 8 semapv:UnspecifiedMatching MONDO:0014462 focal segmental glomerulosclerosis 8 skos:exactMatch UMLS:C4014993 semapv:UnspecifiedMatching MONDO:0014464 progressive encephalopathy with leukodystrophy due to DECR deficiency skos:exactMatch MEDGEN:346552 semapv:UnspecifiedMatching MONDO:0014464 progressive encephalopathy with leukodystrophy due to DECR deficiency skos:exactMatch OMIM:616034 2,4-dienoyl-coa reductase deficiency semapv:UnspecifiedMatching MONDO:0014464 progressive encephalopathy with leukodystrophy due to DECR deficiency skos:exactMatch Orphanet:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency semapv:UnspecifiedMatching MONDO:0014464 progressive encephalopathy with leukodystrophy due to DECR deficiency skos:exactMatch UMLS:C1857252 semapv:UnspecifiedMatching MONDO:0014464 progressive encephalopathy with leukodystrophy due to DECR deficiency skos:exactMatch mesh:C565624 semapv:UnspecifiedMatching MONDO:0014465 primary ciliary dyskinesia 30 skos:exactMatch DOID:0110624 primary ciliary dyskinesia 30 semapv:UnspecifiedMatching MONDO:0014465 primary ciliary dyskinesia 30 skos:exactMatch MEDGEN:863453 semapv:UnspecifiedMatching MONDO:0014465 primary ciliary dyskinesia 30 skos:exactMatch OMIM:616037 ciliary dyskinesia, primary, 30 semapv:UnspecifiedMatching MONDO:0014465 primary ciliary dyskinesia 30 skos:exactMatch UMLS:C4015016 semapv:UnspecifiedMatching MONDO:0014466 Neu-Laxova syndrome 2 skos:exactMatch DOID:0080075 Neu-Laxova syndrome 2 semapv:UnspecifiedMatching MONDO:0014466 Neu-Laxova syndrome 2 skos:exactMatch MEDGEN:863456 semapv:UnspecifiedMatching MONDO:0014466 Neu-Laxova syndrome 2 skos:exactMatch OMIM:616038 neu-laxova syndrome 2 semapv:UnspecifiedMatching MONDO:0014466 Neu-Laxova syndrome 2 skos:exactMatch Orphanet:583602 Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency semapv:UnspecifiedMatching MONDO:0014466 Neu-Laxova syndrome 2 skos:exactMatch UMLS:C4015019 semapv:UnspecifiedMatching MONDO:0014467 Charcot-Marie-Tooth disease recessive intermediate D skos:exactMatch DOID:0110203 Charcot-Marie-Tooth disease recessive intermediate D semapv:UnspecifiedMatching MONDO:0014467 Charcot-Marie-Tooth disease recessive intermediate D skos:exactMatch MEDGEN:1800450 semapv:UnspecifiedMatching MONDO:0014467 Charcot-Marie-Tooth disease recessive intermediate D skos:exactMatch OMIM:616039 charcot-marie-tooth disease, recessive intermediate d semapv:UnspecifiedMatching MONDO:0014467 Charcot-Marie-Tooth disease recessive intermediate D skos:exactMatch Orphanet:435998 Autosomal recessive intermediate Charcot-Marie-Tooth disease type D semapv:UnspecifiedMatching MONDO:0014467 Charcot-Marie-Tooth disease recessive intermediate D skos:exactMatch UMLS:C5569027 semapv:UnspecifiedMatching MONDO:0014468 congenital myasthenic syndrome 7 skos:exactMatch DOID:0110659 congenital myasthenic syndrome 7 semapv:UnspecifiedMatching MONDO:0014468 congenital myasthenic syndrome 7 skos:exactMatch MEDGEN:863475 semapv:UnspecifiedMatching MONDO:0014468 congenital myasthenic syndrome 7 skos:exactMatch OMIM:616040 myasthenic syndrome, congenital, 7a, presynaptic, and distal motor neuropathy, autosomal dominant semapv:UnspecifiedMatching MONDO:0014468 congenital myasthenic syndrome 7 skos:exactMatch UMLS:C4015038 semapv:UnspecifiedMatching MONDO:0014469 autosomal recessive nonsyndromic hearing loss 103 skos:exactMatch DOID:0110464 autosomal recessive nonsyndromic deafness 103 semapv:UnspecifiedMatching MONDO:0014469 autosomal recessive nonsyndromic hearing loss 103 skos:exactMatch MEDGEN:863487 semapv:UnspecifiedMatching MONDO:0014469 autosomal recessive nonsyndromic hearing loss 103 skos:exactMatch OMIM:616042 deafness, autosomal recessive 103 semapv:UnspecifiedMatching MONDO:0014469 autosomal recessive nonsyndromic hearing loss 103 skos:exactMatch UMLS:C4015050 semapv:UnspecifiedMatching MONDO:0014470 autosomal dominant nonsyndromic hearing loss 65 skos:exactMatch DOID:0110586 autosomal dominant nonsyndromic deafness 65 semapv:UnspecifiedMatching MONDO:0014470 autosomal dominant nonsyndromic hearing loss 65 skos:exactMatch MEDGEN:856147 semapv:UnspecifiedMatching MONDO:0014470 autosomal dominant nonsyndromic hearing loss 65 skos:exactMatch OMIM:616044 deafness, autosomal dominant 65 semapv:UnspecifiedMatching MONDO:0014470 autosomal dominant nonsyndromic hearing loss 65 skos:exactMatch UMLS:C3892048 semapv:UnspecifiedMatching MONDO:0014471 mitochondrial proton-transporting ATP synthase complex deficiency skos:exactMatch DOID:0111143 mitochondrial complex V (ATP synthase) deficiency semapv:UnspecifiedMatching MONDO:0014471 mitochondrial proton-transporting ATP synthase complex deficiency skos:exactMatch MEDGEN:1655626 semapv:UnspecifiedMatching MONDO:0014471 mitochondrial proton-transporting ATP synthase complex deficiency skos:exactMatch OMIMPS:604273 Mitochondrial complex V (ATP synthase) deficiency, nuclear type semapv:UnspecifiedMatching MONDO:0014471 mitochondrial proton-transporting ATP synthase complex deficiency skos:exactMatch Orphanet:254913 Isolated ATP synthase deficiency semapv:UnspecifiedMatching MONDO:0014471 mitochondrial proton-transporting ATP synthase complex deficiency skos:exactMatch UMLS:C4757950 semapv:UnspecifiedMatching MONDO:0014471 mitochondrial proton-transporting ATP synthase complex deficiency skos:exactMatch icd11.foundation:902255625 Isolated ATP synthase deficiency semapv:UnspecifiedMatching MONDO:0014472 periodic fever-infantile enterocolitis-autoinflammatory syndrome skos:exactMatch MEDGEN:863504 semapv:UnspecifiedMatching MONDO:0014472 periodic fever-infantile enterocolitis-autoinflammatory syndrome skos:exactMatch OMIM:616050 autoinflammation with infantile enterocolitis semapv:UnspecifiedMatching MONDO:0014472 periodic fever-infantile enterocolitis-autoinflammatory syndrome skos:exactMatch Orphanet:436166 Periodic fever-infantile enterocolitis-autoinflammatory syndrome semapv:UnspecifiedMatching MONDO:0014472 periodic fever-infantile enterocolitis-autoinflammatory syndrome skos:exactMatch UMLS:C4015067 semapv:UnspecifiedMatching MONDO:0014473 microcephaly 13, primary, autosomal recessive skos:exactMatch DOID:0070283 primary autosomal recessive microcephaly 13 semapv:UnspecifiedMatching MONDO:0014473 microcephaly 13, primary, autosomal recessive skos:exactMatch MEDGEN:863517 semapv:UnspecifiedMatching MONDO:0014473 microcephaly 13, primary, autosomal recessive skos:exactMatch OMIM:616051 microcephaly 13, primary, autosomal recessive semapv:UnspecifiedMatching MONDO:0014473 microcephaly 13, primary, autosomal recessive skos:exactMatch UMLS:C4015080 semapv:UnspecifiedMatching MONDO:0014474 autosomal recessive limb-girdle muscular dystrophy type 2U skos:exactMatch DOID:0110295 autosomal recessive limb-girdle muscular dystrophy type 2U semapv:UnspecifiedMatching MONDO:0014474 autosomal recessive limb-girdle muscular dystrophy type 2U skos:exactMatch MEDGEN:1683417 semapv:UnspecifiedMatching MONDO:0014474 autosomal recessive limb-girdle muscular dystrophy type 2U skos:exactMatch OMIM:616052 muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7 semapv:UnspecifiedMatching MONDO:0014474 autosomal recessive limb-girdle muscular dystrophy type 2U skos:exactMatch Orphanet:352479 ISPD-related limb-girdle muscular dystrophy R20 semapv:UnspecifiedMatching MONDO:0014474 autosomal recessive limb-girdle muscular dystrophy type 2U skos:exactMatch UMLS:C5190987 semapv:UnspecifiedMatching MONDO:0014475 spinocerebellar ataxia type 40 skos:exactMatch DOID:0050986 spinocerebellar ataxia 40 semapv:UnspecifiedMatching MONDO:0014475 spinocerebellar ataxia type 40 skos:exactMatch MEDGEN:1385103 semapv:UnspecifiedMatching MONDO:0014475 spinocerebellar ataxia type 40 skos:exactMatch OMIM:616053 spinocerebellar ataxia 40 semapv:UnspecifiedMatching MONDO:0014475 spinocerebellar ataxia type 40 skos:exactMatch Orphanet:423275 Spinocerebellar ataxia type 40 semapv:UnspecifiedMatching MONDO:0014475 spinocerebellar ataxia type 40 skos:exactMatch SCTID:734020000 semapv:UnspecifiedMatching MONDO:0014475 spinocerebellar ataxia type 40 skos:exactMatch UMLS:C4518336 semapv:UnspecifiedMatching MONDO:0014476 episodic ataxia type 8 skos:exactMatch DOID:0050996 episodic ataxia type 8 semapv:UnspecifiedMatching MONDO:0014476 episodic ataxia type 8 skos:exactMatch MEDGEN:863545 semapv:UnspecifiedMatching MONDO:0014476 episodic ataxia type 8 skos:exactMatch OMIM:616055 episodic ataxia, type 8 semapv:UnspecifiedMatching MONDO:0014476 episodic ataxia type 8 skos:exactMatch Orphanet:401953 Episodic ataxia with slurred speech semapv:UnspecifiedMatching MONDO:0014476 episodic ataxia type 8 skos:exactMatch UMLS:C4015108 semapv:UnspecifiedMatching MONDO:0014477 developmental and epileptic encephalopathy, 26 skos:exactMatch DOID:0080461 developmental and epileptic encephalopathy 26 semapv:UnspecifiedMatching MONDO:0014477 developmental and epileptic encephalopathy, 26 skos:exactMatch MEDGEN:863556 semapv:UnspecifiedMatching MONDO:0014477 developmental and epileptic encephalopathy, 26 skos:exactMatch OMIM:616056 developmental and epileptic encephalopathy 26 semapv:UnspecifiedMatching MONDO:0014477 developmental and epileptic encephalopathy, 26 skos:exactMatch UMLS:C4015119 semapv:UnspecifiedMatching MONDO:0014478 mirror movements 3 skos:exactMatch DOID:0070639 mirror movements 3 semapv:UnspecifiedMatching MONDO:0014478 mirror movements 3 skos:exactMatch MEDGEN:863561 semapv:UnspecifiedMatching MONDO:0014478 mirror movements 3 skos:exactMatch OMIM:616059 mirror movements 3 semapv:UnspecifiedMatching MONDO:0014478 mirror movements 3 skos:exactMatch UMLS:C4015124 semapv:UnspecifiedMatching MONDO:0014479 porokeratosis 8, disseminated superficial actinic type skos:exactMatch MEDGEN:863565 semapv:UnspecifiedMatching MONDO:0014479 porokeratosis 8, disseminated superficial actinic type skos:exactMatch OMIM:616063 porokeratosis 8, disseminated superficial actinic type semapv:UnspecifiedMatching MONDO:0014479 porokeratosis 8, disseminated superficial actinic type skos:exactMatch UMLS:C4015128 semapv:UnspecifiedMatching MONDO:0014480 46,XY sex reversal 9 skos:exactMatch DOID:0111770 46,XY sex reversal 9 semapv:UnspecifiedMatching MONDO:0014480 46,XY sex reversal 9 skos:exactMatch MEDGEN:863566 semapv:UnspecifiedMatching MONDO:0014480 46,XY sex reversal 9 skos:exactMatch OMIM:616067 46,xy sex reversal 9 semapv:UnspecifiedMatching MONDO:0014480 46,XY sex reversal 9 skos:exactMatch UMLS:C4015129 semapv:UnspecifiedMatching MONDO:0014481 inflammatory skin and bowel disease, neonatal, 2 skos:exactMatch DOID:0061191 neonatal nephrocutaneous inflammatory syndrome semapv:UnspecifiedMatching MONDO:0014481 inflammatory skin and bowel disease, neonatal, 2 skos:exactMatch MEDGEN:863567 semapv:UnspecifiedMatching MONDO:0014481 inflammatory skin and bowel disease, neonatal, 2 skos:exactMatch OMIM:616069 neonatal nephrocutaneous inflammatory syndrome semapv:UnspecifiedMatching MONDO:0014481 inflammatory skin and bowel disease, neonatal, 2 skos:exactMatch UMLS:C4015130 semapv:UnspecifiedMatching MONDO:0014482 intellectual disability, autosomal dominant 29 skos:exactMatch DOID:0070059 autosomal dominant intellectual developmental disorder 29 semapv:UnspecifiedMatching MONDO:0014482 intellectual disability, autosomal dominant 29 skos:exactMatch MEDGEN:863578 semapv:UnspecifiedMatching MONDO:0014482 intellectual disability, autosomal dominant 29 skos:exactMatch OMIM:616078 intellectual developmental disorder, autosomal dominant 29 semapv:UnspecifiedMatching MONDO:0014482 intellectual disability, autosomal dominant 29 skos:exactMatch UMLS:C4015141 semapv:UnspecifiedMatching MONDO:0014483 retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies skos:exactMatch MEDGEN:863583 semapv:UnspecifiedMatching MONDO:0014483 retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies skos:exactMatch OMIM:616079 retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities semapv:UnspecifiedMatching MONDO:0014483 retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies skos:exactMatch Orphanet:397758 Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies semapv:UnspecifiedMatching MONDO:0014483 retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies skos:exactMatch UMLS:C4015146 semapv:UnspecifiedMatching MONDO:0014484 microcephaly 12, primary, autosomal recessive skos:exactMatch DOID:0070284 primary autosomal recessive microcephaly 12 semapv:UnspecifiedMatching MONDO:0014484 microcephaly 12, primary, autosomal recessive skos:exactMatch MEDGEN:863593 semapv:UnspecifiedMatching MONDO:0014484 microcephaly 12, primary, autosomal recessive skos:exactMatch OMIM:616080 microcephaly 12, primary, autosomal recessive semapv:UnspecifiedMatching MONDO:0014484 microcephaly 12, primary, autosomal recessive skos:exactMatch UMLS:C4015156 semapv:UnspecifiedMatching MONDO:0014485 pontocerebellar hypoplasia, type 1C skos:exactMatch DOID:0112334 pontocerebellar hypoplasia type 1C semapv:UnspecifiedMatching MONDO:0014485 pontocerebellar hypoplasia, type 1C skos:exactMatch MEDGEN:863597 semapv:UnspecifiedMatching MONDO:0014485 pontocerebellar hypoplasia, type 1C skos:exactMatch OMIM:616081 pontocerebellar hypoplasia, type 1c semapv:UnspecifiedMatching MONDO:0014485 pontocerebellar hypoplasia, type 1C skos:exactMatch UMLS:C4015160 semapv:UnspecifiedMatching MONDO:0014486 intellectual disability, autosomal dominant 30 skos:exactMatch DOID:0070060 autosomal dominant intellectual developmental disorder 30 semapv:UnspecifiedMatching MONDO:0014486 intellectual disability, autosomal dominant 30 skos:exactMatch MEDGEN:863604 semapv:UnspecifiedMatching MONDO:0014486 intellectual disability, autosomal dominant 30 skos:exactMatch OMIM:616083 intellectual developmental disorder, autosomal dominant 30, with speech delay and behavioral abnormalities semapv:UnspecifiedMatching MONDO:0014486 intellectual disability, autosomal dominant 30 skos:exactMatch Orphanet:694304 ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome semapv:UnspecifiedMatching MONDO:0014486 intellectual disability, autosomal dominant 30 skos:exactMatch Orphanet:694308 ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to a point mutation semapv:UnspecifiedMatching MONDO:0014486 intellectual disability, autosomal dominant 30 skos:exactMatch UMLS:C4015167 semapv:UnspecifiedMatching MONDO:0014487 congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome skos:exactMatch DOID:0080209 sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay semapv:UnspecifiedMatching MONDO:0014487 congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome skos:exactMatch MEDGEN:863609 semapv:UnspecifiedMatching MONDO:0014487 congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome skos:exactMatch OMIM:616084 sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay semapv:UnspecifiedMatching MONDO:0014487 congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome skos:exactMatch Orphanet:369861 Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome semapv:UnspecifiedMatching MONDO:0014487 congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome skos:exactMatch UMLS:C4015172 semapv:UnspecifiedMatching MONDO:0014488 diabetes mellitus, noninsulin-dependent, 5 skos:exactMatch MEDGEN:863620 semapv:UnspecifiedMatching MONDO:0014488 diabetes mellitus, noninsulin-dependent, 5 skos:exactMatch OMIM:616087 type 2 diabetes 5 semapv:UnspecifiedMatching MONDO:0014488 diabetes mellitus, noninsulin-dependent, 5 skos:exactMatch UMLS:C4015183 semapv:UnspecifiedMatching MONDO:0014489 limb-girdle muscular dystrophy due to POMK deficiency skos:exactMatch DOID:0112381 muscular dystrophy-dystroglycanopathy type C12 semapv:UnspecifiedMatching MONDO:0014489 limb-girdle muscular dystrophy due to POMK deficiency skos:exactMatch MEDGEN:863621 semapv:UnspecifiedMatching MONDO:0014489 limb-girdle muscular dystrophy due to POMK deficiency skos:exactMatch OMIM:616094 muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12 semapv:UnspecifiedMatching MONDO:0014489 limb-girdle muscular dystrophy due to POMK deficiency skos:exactMatch Orphanet:445110 Limb-girdle muscular dystrophy due to POMK deficiency semapv:UnspecifiedMatching MONDO:0014489 limb-girdle muscular dystrophy due to POMK deficiency skos:exactMatch UMLS:C4015184 semapv:UnspecifiedMatching MONDO:0014490 ketoacidosis due to monocarboxylate transporter-1 deficiency skos:exactMatch MEDGEN:863623 semapv:UnspecifiedMatching MONDO:0014490 ketoacidosis due to monocarboxylate transporter-1 deficiency skos:exactMatch OMIM:616095 monocarboxylate transporter 1 deficiency semapv:UnspecifiedMatching MONDO:0014490 ketoacidosis due to monocarboxylate transporter-1 deficiency skos:exactMatch Orphanet:438075 Ketoacidosis due to monocarboxylate transporter-1 deficiency semapv:UnspecifiedMatching MONDO:0014490 ketoacidosis due to monocarboxylate transporter-1 deficiency skos:exactMatch UMLS:C4015186 semapv:UnspecifiedMatching MONDO:0014491 immunodeficiency 37 skos:exactMatch DOID:0111939 immunodeficiency 37 semapv:UnspecifiedMatching MONDO:0014491 immunodeficiency 37 skos:exactMatch MEDGEN:863632 semapv:UnspecifiedMatching MONDO:0014491 immunodeficiency 37 skos:exactMatch OMIM:616098 immunodeficiency 37 semapv:UnspecifiedMatching MONDO:0014491 immunodeficiency 37 skos:exactMatch UMLS:C4015195 semapv:UnspecifiedMatching MONDO:0014492 wooly hair-palmoplantar keratoderma syndrome skos:exactMatch DOID:0070554 palmoplantar keratoderma and woolly hair semapv:UnspecifiedMatching MONDO:0014492 wooly hair-palmoplantar keratoderma syndrome skos:exactMatch MEDGEN:863639 semapv:UnspecifiedMatching MONDO:0014492 wooly hair-palmoplantar keratoderma syndrome skos:exactMatch OMIM:616099 palmoplantar keratoderma and woolly hair semapv:UnspecifiedMatching MONDO:0014492 wooly hair-palmoplantar keratoderma syndrome skos:exactMatch Orphanet:420686 Woolly hair-palmoplantar keratoderma syndrome semapv:UnspecifiedMatching MONDO:0014492 wooly hair-palmoplantar keratoderma syndrome skos:exactMatch SCTID:764108000 semapv:UnspecifiedMatching MONDO:0014492 wooly hair-palmoplantar keratoderma syndrome skos:exactMatch UMLS:C4015202 semapv:UnspecifiedMatching MONDO:0014493 autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency skos:exactMatch MEDGEN:863651 semapv:UnspecifiedMatching MONDO:0014493 autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency skos:exactMatch NCIT:C126341 CTLA4 Deficiency semapv:UnspecifiedMatching MONDO:0014493 autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency skos:exactMatch OMIM:616100 immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation semapv:UnspecifiedMatching MONDO:0014493 autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency skos:exactMatch Orphanet:436159 Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency semapv:UnspecifiedMatching MONDO:0014493 autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency skos:exactMatch UMLS:C4015214 semapv:UnspecifiedMatching MONDO:0014494 psoriasis 15, pustular, susceptibility to skos:exactMatch DOID:0111281 psoriasis 15 semapv:UnspecifiedMatching MONDO:0014494 psoriasis 15, pustular, susceptibility to skos:exactMatch MEDGEN:863672 semapv:UnspecifiedMatching MONDO:0014494 psoriasis 15, pustular, susceptibility to skos:exactMatch OMIM:616106 psoriasis 15, pustular, susceptibility to semapv:UnspecifiedMatching MONDO:0014494 psoriasis 15, pustular, susceptibility to skos:exactMatch UMLS:C4015235 semapv:UnspecifiedMatching MONDO:0014495 retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome skos:exactMatch MEDGEN:863679 semapv:UnspecifiedMatching MONDO:0014495 retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome skos:exactMatch OMIM:616108 retinal dystrophy, juvenile cataracts, and short stature syndrome semapv:UnspecifiedMatching MONDO:0014495 retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome skos:exactMatch Orphanet:436245 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0014495 retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome skos:exactMatch UMLS:C4015242 semapv:UnspecifiedMatching MONDO:0014496 mitochondrial complex III deficiency nuclear type 9 skos:exactMatch DOID:0080118 mitochondrial complex III deficiency nuclear type 9 semapv:UnspecifiedMatching MONDO:0014496 mitochondrial complex III deficiency nuclear type 9 skos:exactMatch MEDGEN:863690 semapv:UnspecifiedMatching MONDO:0014496 mitochondrial complex III deficiency nuclear type 9 skos:exactMatch OMIM:616111 mitochondrial complex 3 deficiency, nuclear type 9 semapv:UnspecifiedMatching MONDO:0014496 mitochondrial complex III deficiency nuclear type 9 skos:exactMatch UMLS:C4015253 semapv:UnspecifiedMatching MONDO:0014497 polyendocrine-polyneuropathy syndrome skos:exactMatch MEDGEN:863698 semapv:UnspecifiedMatching MONDO:0014497 polyendocrine-polyneuropathy syndrome skos:exactMatch OMIM:616113 polyendocrine-polyneuropathy syndrome semapv:UnspecifiedMatching MONDO:0014497 polyendocrine-polyneuropathy syndrome skos:exactMatch Orphanet:453533 Polyendocrine-polyneuropathy syndrome semapv:UnspecifiedMatching MONDO:0014497 polyendocrine-polyneuropathy syndrome skos:exactMatch UMLS:C4015261 semapv:UnspecifiedMatching MONDO:0014498 familial cold autoinflammatory syndrome 4 skos:exactMatch DOID:0090065 familial cold autoinflammatory syndrome 4 semapv:UnspecifiedMatching MONDO:0014498 familial cold autoinflammatory syndrome 4 skos:exactMatch MEDGEN:863713 semapv:UnspecifiedMatching MONDO:0014498 familial cold autoinflammatory syndrome 4 skos:exactMatch OMIM:616115 familial cold autoinflammatory syndrome 4 semapv:UnspecifiedMatching MONDO:0014498 familial cold autoinflammatory syndrome 4 skos:exactMatch Orphanet:576349 NLRC4-related familial cold autoinflammatory syndrome semapv:UnspecifiedMatching MONDO:0014498 familial cold autoinflammatory syndrome 4 skos:exactMatch UMLS:C4015276 semapv:UnspecifiedMatching MONDO:0014499 intellectual disability, autosomal recessive 46 skos:exactMatch DOID:0081210 autosomal recessive intellectual developmental disorder 46 semapv:UnspecifiedMatching MONDO:0014499 intellectual disability, autosomal recessive 46 skos:exactMatch MEDGEN:863720 semapv:UnspecifiedMatching MONDO:0014499 intellectual disability, autosomal recessive 46 skos:exactMatch OMIM:616116 intellectual developmental disorder, autosomal recessive 46 semapv:UnspecifiedMatching MONDO:0014499 intellectual disability, autosomal recessive 46 skos:exactMatch UMLS:C4015283 semapv:UnspecifiedMatching MONDO:0014500 atrial conduction disease skos:exactMatch EFO:0005304 semapv:UnspecifiedMatching MONDO:0014501 macular degeneration, early-onset skos:exactMatch MEDGEN:863723 semapv:UnspecifiedMatching MONDO:0014501 macular degeneration, early-onset skos:exactMatch OMIM:616118 macular degeneration, early-onset semapv:UnspecifiedMatching MONDO:0014501 macular degeneration, early-onset skos:exactMatch UMLS:C4015286 semapv:UnspecifiedMatching MONDO:0014502 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency skos:exactMatch DOID:0111934 immunodeficiency 38 semapv:UnspecifiedMatching MONDO:0014502 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency skos:exactMatch MEDGEN:863730 semapv:UnspecifiedMatching MONDO:0014502 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency skos:exactMatch OMIM:616126 immunodeficiency 38 with basal ganglia calcification semapv:UnspecifiedMatching MONDO:0014502 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency skos:exactMatch Orphanet:319563 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency semapv:UnspecifiedMatching MONDO:0014502 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency skos:exactMatch UMLS:C4015293 semapv:UnspecifiedMatching MONDO:0014503 autosomal recessive spinocerebellar ataxia 17 skos:exactMatch DOID:0080064 autosomal recessive spinocerebellar ataxia 17 semapv:UnspecifiedMatching MONDO:0014503 autosomal recessive spinocerebellar ataxia 17 skos:exactMatch MEDGEN:863738 semapv:UnspecifiedMatching MONDO:0014503 autosomal recessive spinocerebellar ataxia 17 skos:exactMatch OMIM:616127 spinocerebellar ataxia, autosomal recessive 17 semapv:UnspecifiedMatching MONDO:0014503 autosomal recessive spinocerebellar ataxia 17 skos:exactMatch Orphanet:453521 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency semapv:UnspecifiedMatching MONDO:0014503 autosomal recessive spinocerebellar ataxia 17 skos:exactMatch UMLS:C4015301 semapv:UnspecifiedMatching MONDO:0014504 Perrault syndrome 5 skos:exactMatch MEDGEN:863744 semapv:UnspecifiedMatching MONDO:0014504 Perrault syndrome 5 skos:exactMatch OMIM:616138 perrault syndrome 5 semapv:UnspecifiedMatching MONDO:0014504 Perrault syndrome 5 skos:exactMatch UMLS:C4015307 semapv:UnspecifiedMatching MONDO:0014505 developmental and epileptic encephalopathy, 27 skos:exactMatch DOID:0080444 developmental and epileptic encephalopathy 27 semapv:UnspecifiedMatching MONDO:0014505 developmental and epileptic encephalopathy, 27 skos:exactMatch MEDGEN:863753 semapv:UnspecifiedMatching MONDO:0014505 developmental and epileptic encephalopathy, 27 skos:exactMatch OMIM:616139 developmental and epileptic encephalopathy 27 semapv:UnspecifiedMatching MONDO:0014505 developmental and epileptic encephalopathy, 27 skos:exactMatch UMLS:C4015316 semapv:UnspecifiedMatching MONDO:0014506 hypomyelinating leukodystrophy 9 skos:exactMatch DOID:0060791 hypomyelinating leukodystrophy 9 semapv:UnspecifiedMatching MONDO:0014506 hypomyelinating leukodystrophy 9 skos:exactMatch MEDGEN:863760 semapv:UnspecifiedMatching MONDO:0014506 hypomyelinating leukodystrophy 9 skos:exactMatch OMIM:616140 leukodystrophy, hypomyelinating, 9 semapv:UnspecifiedMatching MONDO:0014506 hypomyelinating leukodystrophy 9 skos:exactMatch Orphanet:438114 RARS-related autosomal recessive hypomyelinating leukodystrophy semapv:UnspecifiedMatching MONDO:0014506 hypomyelinating leukodystrophy 9 skos:exactMatch UMLS:C4015323 semapv:UnspecifiedMatching MONDO:0014507 Catel-Manzke syndrome skos:exactMatch DOID:0081122 Catel Manzke syndrome semapv:UnspecifiedMatching MONDO:0014507 Catel-Manzke syndrome skos:exactMatch MEDGEN:375536 semapv:UnspecifiedMatching MONDO:0014507 Catel-Manzke syndrome skos:exactMatch OMIM:616145 catel-manzke syndrome semapv:UnspecifiedMatching MONDO:0014507 Catel-Manzke syndrome skos:exactMatch Orphanet:1388 Catel-Manzke syndrome semapv:UnspecifiedMatching MONDO:0014507 Catel-Manzke syndrome skos:exactMatch SCTID:722383001 semapv:UnspecifiedMatching MONDO:0014507 Catel-Manzke syndrome skos:exactMatch UMLS:C1844887 semapv:UnspecifiedMatching MONDO:0014507 Catel-Manzke syndrome skos:exactMatch icd11.foundation:1023183031 Catel-Manzke syndrome semapv:UnspecifiedMatching MONDO:0014507 Catel-Manzke syndrome skos:exactMatch mesh:C535347 semapv:UnspecifiedMatching MONDO:0014508 vitelliform macular dystrophy 4 skos:exactMatch MEDGEN:863779 semapv:UnspecifiedMatching MONDO:0014508 vitelliform macular dystrophy 4 skos:exactMatch OMIM:616151 macular dystrophy, vitelliform, 4 semapv:UnspecifiedMatching MONDO:0014508 vitelliform macular dystrophy 4 skos:exactMatch UMLS:C4015342 semapv:UnspecifiedMatching MONDO:0014509 vitelliform macular dystrophy 5 skos:exactMatch MEDGEN:863780 semapv:UnspecifiedMatching MONDO:0014509 vitelliform macular dystrophy 5 skos:exactMatch OMIM:616152 macular dystrophy, vitelliform, 5 semapv:UnspecifiedMatching MONDO:0014509 vitelliform macular dystrophy 5 skos:exactMatch UMLS:C4015343 semapv:UnspecifiedMatching MONDO:0014510 fatty acyl-CoA reductase 1 deficiency skos:exactMatch DOID:0081243 rhizomelic chondrodysplasia punctate type 4 semapv:UnspecifiedMatching MONDO:0014510 fatty acyl-CoA reductase 1 deficiency skos:exactMatch MEDGEN:863781 semapv:UnspecifiedMatching MONDO:0014510 fatty acyl-CoA reductase 1 deficiency skos:exactMatch OMIM:616154 peroxisomal fatty acyl-coa reductase 1 disorder semapv:UnspecifiedMatching MONDO:0014510 fatty acyl-CoA reductase 1 deficiency skos:exactMatch Orphanet:438178 Fatty acyl-CoA reductase 1 deficiency semapv:UnspecifiedMatching MONDO:0014510 fatty acyl-CoA reductase 1 deficiency skos:exactMatch UMLS:C4015344 semapv:UnspecifiedMatching MONDO:0014511 Charcot-Marie-Tooth disease axonal type 2S skos:exactMatch DOID:0110171 Charcot-Marie-Tooth disease axonal type 2S semapv:UnspecifiedMatching MONDO:0014511 Charcot-Marie-Tooth disease axonal type 2S skos:exactMatch MEDGEN:863786 semapv:UnspecifiedMatching MONDO:0014511 Charcot-Marie-Tooth disease axonal type 2S skos:exactMatch OMIM:616155 charcot-marie-tooth disease, axonal, type 2s semapv:UnspecifiedMatching MONDO:0014511 Charcot-Marie-Tooth disease axonal type 2S skos:exactMatch Orphanet:443073 Charcot-Marie-Tooth disease type 2S semapv:UnspecifiedMatching MONDO:0014511 Charcot-Marie-Tooth disease axonal type 2S skos:exactMatch UMLS:C4015349 semapv:UnspecifiedMatching MONDO:0014512 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation skos:exactMatch DOID:0070061 autosomal dominant intellectual developmental disorder 31 semapv:UnspecifiedMatching MONDO:0014512 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation skos:exactMatch OMIM:616158 neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties semapv:UnspecifiedMatching MONDO:0014512 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation skos:exactMatch Orphanet:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation semapv:UnspecifiedMatching MONDO:0014513 nemaline myopathy 10 skos:exactMatch DOID:0110931 nemaline myopathy 10 semapv:UnspecifiedMatching MONDO:0014513 nemaline myopathy 10 skos:exactMatch MEDGEN:863797 semapv:UnspecifiedMatching MONDO:0014513 nemaline myopathy 10 skos:exactMatch OMIM:616165 nemaline myopathy 10 semapv:UnspecifiedMatching MONDO:0014513 nemaline myopathy 10 skos:exactMatch UMLS:C4015360 semapv:UnspecifiedMatching MONDO:0014514 aortic aneurysm, familial thoracic 9 skos:exactMatch MEDGEN:863805 semapv:UnspecifiedMatching MONDO:0014514 aortic aneurysm, familial thoracic 9 skos:exactMatch OMIM:616166 aortic aneurysm, familial thoracic 9 semapv:UnspecifiedMatching MONDO:0014514 aortic aneurysm, familial thoracic 9 skos:exactMatch UMLS:C4015368 semapv:UnspecifiedMatching MONDO:0014515 macular dystrophy with central cone involvement skos:exactMatch MEDGEN:863808 semapv:UnspecifiedMatching MONDO:0014515 macular dystrophy with central cone involvement skos:exactMatch OMIM:616170 macular dystrophy with central cone involvement semapv:UnspecifiedMatching MONDO:0014515 macular dystrophy with central cone involvement skos:exactMatch UMLS:C4015371 semapv:UnspecifiedMatching MONDO:0014516 microcephaly and chorioretinopathy 2 skos:exactMatch DOID:0080106 microcephaly and chorioretinopathy 2 semapv:UnspecifiedMatching MONDO:0014516 microcephaly and chorioretinopathy 2 skos:exactMatch MEDGEN:863825 semapv:UnspecifiedMatching MONDO:0014516 microcephaly and chorioretinopathy 2 skos:exactMatch OMIM:616171 microcephaly and chorioretinopathy, autosomal recessive, 2 semapv:UnspecifiedMatching MONDO:0014516 microcephaly and chorioretinopathy 2 skos:exactMatch UMLS:C4015388 semapv:UnspecifiedMatching MONDO:0014517 generalized epilepsy with febrile seizures plus, type 9 skos:exactMatch DOID:0111301 generalized epilepsy with febrile seizures plus 9 semapv:UnspecifiedMatching MONDO:0014517 generalized epilepsy with febrile seizures plus, type 9 skos:exactMatch MEDGEN:863832 semapv:UnspecifiedMatching MONDO:0014517 generalized epilepsy with febrile seizures plus, type 9 skos:exactMatch OMIM:616172 generalized epilepsy with febrile seizures plus, type 9 semapv:UnspecifiedMatching MONDO:0014517 generalized epilepsy with febrile seizures plus, type 9 skos:exactMatch UMLS:C4015395 semapv:UnspecifiedMatching MONDO:0014518 platelet-type bleeding disorder 19 skos:exactMatch DOID:0111048 platelet-type bleeding disorder 19 semapv:UnspecifiedMatching MONDO:0014518 platelet-type bleeding disorder 19 skos:exactMatch MEDGEN:863842 semapv:UnspecifiedMatching MONDO:0014518 platelet-type bleeding disorder 19 skos:exactMatch OMIM:616176 bleeding disorder, platelet-type, 19 semapv:UnspecifiedMatching MONDO:0014518 platelet-type bleeding disorder 19 skos:exactMatch Orphanet:438207 Severe autosomal recessive macrothrombocytopenia semapv:UnspecifiedMatching MONDO:0014518 platelet-type bleeding disorder 19 skos:exactMatch UMLS:C4015405 semapv:UnspecifiedMatching MONDO:0014519 chronic mountain sickness, susceptibility to skos:exactMatch MEDGEN:545568 semapv:UnspecifiedMatching MONDO:0014519 chronic mountain sickness, susceptibility to skos:exactMatch OMIM:616182 chronic mountain sickness, susceptibility to semapv:UnspecifiedMatching MONDO:0014519 chronic mountain sickness, susceptibility to skos:exactMatch UMLS:C0274294 semapv:UnspecifiedMatching MONDO:0014520 46,XX ovarian dysgenesis-short stature syndrome skos:exactMatch DOID:0080496 ovarian dysgenesis 4 semapv:UnspecifiedMatching MONDO:0014520 46,XX ovarian dysgenesis-short stature syndrome skos:exactMatch MEDGEN:863846 semapv:UnspecifiedMatching MONDO:0014520 46,XX ovarian dysgenesis-short stature syndrome skos:exactMatch OMIM:616185 ovarian dysgenesis 4 semapv:UnspecifiedMatching MONDO:0014520 46,XX ovarian dysgenesis-short stature syndrome skos:exactMatch Orphanet:444048 46,XX ovarian dysgenesis-short stature syndrome semapv:UnspecifiedMatching MONDO:0014520 46,XX ovarian dysgenesis-short stature syndrome skos:exactMatch UMLS:C4015409 semapv:UnspecifiedMatching MONDO:0014521 progressive myoclonic epilepsy type 7 skos:exactMatch DOID:0111447 progressive myoclonus epilepsy 7 semapv:UnspecifiedMatching MONDO:0014521 progressive myoclonic epilepsy type 7 skos:exactMatch MEDGEN:863857 semapv:UnspecifiedMatching MONDO:0014521 progressive myoclonic epilepsy type 7 skos:exactMatch NCIT:C142804 Epilepsy, Progressive Myoclonic 7 semapv:UnspecifiedMatching MONDO:0014521 progressive myoclonic epilepsy type 7 skos:exactMatch OMIM:616187 epilepsy, progressive myoclonic 7 semapv:UnspecifiedMatching MONDO:0014521 progressive myoclonic epilepsy type 7 skos:exactMatch Orphanet:435438 Progressive myoclonic epilepsy type 7 semapv:UnspecifiedMatching MONDO:0014521 progressive myoclonic epilepsy type 7 skos:exactMatch UMLS:C4015420 semapv:UnspecifiedMatching MONDO:0014522 retinal dystrophy and obesity skos:exactMatch MEDGEN:863861 semapv:UnspecifiedMatching MONDO:0014522 retinal dystrophy and obesity skos:exactMatch OMIM:616188 retinal dystrophy and obesity semapv:UnspecifiedMatching MONDO:0014522 retinal dystrophy and obesity skos:exactMatch UMLS:C4015424 semapv:UnspecifiedMatching MONDO:0014523 juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome skos:exactMatch MEDGEN:863873 semapv:UnspecifiedMatching MONDO:0014523 juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome skos:exactMatch OMIM:616192 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus semapv:UnspecifiedMatching MONDO:0014523 juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome skos:exactMatch Orphanet:445062 Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome semapv:UnspecifiedMatching MONDO:0014523 juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome skos:exactMatch UMLS:C4015436 semapv:UnspecifiedMatching MONDO:0014524 intellectual disability, autosomal recessive 47 skos:exactMatch DOID:0081211 autosomal recessive intellectual developmental disorder 47 semapv:UnspecifiedMatching MONDO:0014524 intellectual disability, autosomal recessive 47 skos:exactMatch MEDGEN:863881 semapv:UnspecifiedMatching MONDO:0014524 intellectual disability, autosomal recessive 47 skos:exactMatch OMIM:616193 intellectual developmental disorder, autosomal recessive 47 semapv:UnspecifiedMatching MONDO:0014524 intellectual disability, autosomal recessive 47 skos:exactMatch UMLS:C4015444 semapv:UnspecifiedMatching MONDO:0014525 combined oxidative phosphorylation defect type 23 skos:exactMatch DOID:0111500 combined oxidative phosphorylation deficiency 23 semapv:UnspecifiedMatching MONDO:0014525 combined oxidative phosphorylation defect type 23 skos:exactMatch MEDGEN:1799166 semapv:UnspecifiedMatching MONDO:0014525 combined oxidative phosphorylation defect type 23 skos:exactMatch OMIM:616198 combined oxidative phosphorylation deficiency 23 semapv:UnspecifiedMatching MONDO:0014525 combined oxidative phosphorylation defect type 23 skos:exactMatch Orphanet:444013 Combined oxidative phosphorylation defect type 23 semapv:UnspecifiedMatching MONDO:0014525 combined oxidative phosphorylation defect type 23 skos:exactMatch UMLS:C5567743 semapv:UnspecifiedMatching MONDO:0014526 polyglucosan body myopathy type 2 skos:exactMatch MEDGEN:863889 semapv:UnspecifiedMatching MONDO:0014526 polyglucosan body myopathy type 2 skos:exactMatch OMIM:616199 polyglucosan body myopathy 2 semapv:UnspecifiedMatching MONDO:0014526 polyglucosan body myopathy type 2 skos:exactMatch Orphanet:456369 Polyglucosan body myopathy type 2 semapv:UnspecifiedMatching MONDO:0014526 polyglucosan body myopathy type 2 skos:exactMatch UMLS:C4015452 semapv:UnspecifiedMatching MONDO:0014527 progeroid features-hepatocellular carcinoma predisposition syndrome skos:exactMatch DOID:0111264 Ruijs-Aalfs syndrome semapv:UnspecifiedMatching MONDO:0014527 progeroid features-hepatocellular carcinoma predisposition syndrome skos:exactMatch MEDGEN:863898 semapv:UnspecifiedMatching MONDO:0014527 progeroid features-hepatocellular carcinoma predisposition syndrome skos:exactMatch OMIM:616200 ruijs-aalfs syndrome semapv:UnspecifiedMatching MONDO:0014527 progeroid features-hepatocellular carcinoma predisposition syndrome skos:exactMatch Orphanet:435953 Progeroid features-hepatocellular carcinoma predisposition syndrome semapv:UnspecifiedMatching MONDO:0014527 progeroid features-hepatocellular carcinoma predisposition syndrome skos:exactMatch UMLS:C4015461 semapv:UnspecifiedMatching MONDO:0014528 chronic atrial and intestinal dysrhythmia skos:exactMatch DOID:0060339 chronic atrial and intestinal dysrhythmia semapv:UnspecifiedMatching MONDO:0014528 chronic atrial and intestinal dysrhythmia skos:exactMatch MEDGEN:863911 semapv:UnspecifiedMatching MONDO:0014528 chronic atrial and intestinal dysrhythmia skos:exactMatch OMIM:616201 chronic atrial and intestinal dysrhythmia semapv:UnspecifiedMatching MONDO:0014528 chronic atrial and intestinal dysrhythmia skos:exactMatch Orphanet:435988 Chronic atrial and intestinal dysrhythmia syndrome semapv:UnspecifiedMatching MONDO:0014528 chronic atrial and intestinal dysrhythmia skos:exactMatch SCTID:720507006 semapv:UnspecifiedMatching MONDO:0014528 chronic atrial and intestinal dysrhythmia skos:exactMatch UMLS:C4015474 semapv:UnspecifiedMatching MONDO:0014529 cerebellar-facial-dental syndrome skos:exactMatch DOID:0080898 cerebellofaciodental syndrome semapv:UnspecifiedMatching MONDO:0014529 cerebellar-facial-dental syndrome skos:exactMatch MEDGEN:863932 semapv:UnspecifiedMatching MONDO:0014529 cerebellar-facial-dental syndrome skos:exactMatch OMIM:616202 cerebellofaciodental syndrome semapv:UnspecifiedMatching MONDO:0014529 cerebellar-facial-dental syndrome skos:exactMatch Orphanet:444072 Cerebellar-facial-dental syndrome semapv:UnspecifiedMatching MONDO:0014529 cerebellar-facial-dental syndrome skos:exactMatch UMLS:C4015495 semapv:UnspecifiedMatching MONDO:0014530 autosomal recessive spinocerebellar ataxia 18 skos:exactMatch DOID:0080042 autosomal recessive spinocerebellar ataxia 18 semapv:UnspecifiedMatching MONDO:0014530 autosomal recessive spinocerebellar ataxia 18 skos:exactMatch MEDGEN:863942 semapv:UnspecifiedMatching MONDO:0014530 autosomal recessive spinocerebellar ataxia 18 skos:exactMatch OMIM:616204 spinocerebellar ataxia, autosomal recessive 18 semapv:UnspecifiedMatching MONDO:0014530 autosomal recessive spinocerebellar ataxia 18 skos:exactMatch Orphanet:363432 Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency semapv:UnspecifiedMatching MONDO:0014530 autosomal recessive spinocerebellar ataxia 18 skos:exactMatch UMLS:C4015505 semapv:UnspecifiedMatching MONDO:0014531 amyotrophic lateral sclerosis type 22 skos:exactMatch DOID:0060355 amyotrophic lateral sclerosis type 22 semapv:UnspecifiedMatching MONDO:0014531 amyotrophic lateral sclerosis type 22 skos:exactMatch MEDGEN:863949 semapv:UnspecifiedMatching MONDO:0014531 amyotrophic lateral sclerosis type 22 skos:exactMatch OMIM:616208 frontotemporal dementia and/or amyotrophic lateral sclerosis 9 semapv:UnspecifiedMatching MONDO:0014531 amyotrophic lateral sclerosis type 22 skos:exactMatch UMLS:C4015512 semapv:UnspecifiedMatching MONDO:0014532 autosomal dominant mitochondrial myopathy with exercise intolerance skos:exactMatch DOID:0081357 isolated mitochondrial myopathy semapv:UnspecifiedMatching MONDO:0014532 autosomal dominant mitochondrial myopathy with exercise intolerance skos:exactMatch MEDGEN:863950 semapv:UnspecifiedMatching MONDO:0014532 autosomal dominant mitochondrial myopathy with exercise intolerance skos:exactMatch OMIM:616209 myopathy, isolated mitochondrial, autosomal dominant semapv:UnspecifiedMatching MONDO:0014532 autosomal dominant mitochondrial myopathy with exercise intolerance skos:exactMatch Orphanet:457050 Autosomal dominant mitochondrial myopathy with exercise intolerance semapv:UnspecifiedMatching MONDO:0014532 autosomal dominant mitochondrial myopathy with exercise intolerance skos:exactMatch UMLS:C4015513 semapv:UnspecifiedMatching MONDO:0014533 developmental and epileptic encephalopathy, 28 skos:exactMatch DOID:0080452 developmental and epileptic encephalopathy 28 semapv:UnspecifiedMatching MONDO:0014533 developmental and epileptic encephalopathy, 28 skos:exactMatch MEDGEN:863956 semapv:UnspecifiedMatching MONDO:0014533 developmental and epileptic encephalopathy, 28 skos:exactMatch OMIM:616211 developmental and epileptic encephalopathy 28 semapv:UnspecifiedMatching MONDO:0014533 developmental and epileptic encephalopathy, 28 skos:exactMatch UMLS:C4015519 semapv:UnspecifiedMatching MONDO:0014534 lissencephaly 6 with microcephaly skos:exactMatch DOID:0112236 lissencephaly 6 semapv:UnspecifiedMatching MONDO:0014534 lissencephaly 6 with microcephaly skos:exactMatch MEDGEN:863962 semapv:UnspecifiedMatching MONDO:0014534 lissencephaly 6 with microcephaly skos:exactMatch OMIM:616212 lissencephaly 6 with microcephaly semapv:UnspecifiedMatching MONDO:0014534 lissencephaly 6 with microcephaly skos:exactMatch UMLS:C4015525 semapv:UnspecifiedMatching MONDO:0014535 hyperproinsulinemia skos:exactMatch EFO:0009650 semapv:UnspecifiedMatching MONDO:0014535 hyperproinsulinemia skos:exactMatch MEDGEN:137967 semapv:UnspecifiedMatching MONDO:0014535 hyperproinsulinemia skos:exactMatch OMIM:616214 hyperproinsulinemia semapv:UnspecifiedMatching MONDO:0014535 hyperproinsulinemia skos:exactMatch SCTID:237613005 semapv:UnspecifiedMatching MONDO:0014535 hyperproinsulinemia skos:exactMatch UMLS:C0342283 semapv:UnspecifiedMatching MONDO:0014535 hyperproinsulinemia skos:exactMatch mesh:C562776 semapv:UnspecifiedMatching MONDO:0014536 thrombocytopenia 5 skos:exactMatch MEDGEN:863974 semapv:UnspecifiedMatching MONDO:0014536 thrombocytopenia 5 skos:exactMatch NCIT:C203436 Thrombocytopenia 5 semapv:UnspecifiedMatching MONDO:0014536 thrombocytopenia 5 skos:exactMatch OMIM:616216 thrombocytopenia 5 semapv:UnspecifiedMatching MONDO:0014536 thrombocytopenia 5 skos:exactMatch UMLS:C4015537 semapv:UnspecifiedMatching MONDO:0014537 nephronophthisis 19 skos:exactMatch DOID:0111126 nephronophthisis 19 semapv:UnspecifiedMatching MONDO:0014537 nephronophthisis 19 skos:exactMatch MEDGEN:863979 semapv:UnspecifiedMatching MONDO:0014537 nephronophthisis 19 skos:exactMatch OMIM:616217 nephronophthisis 19 semapv:UnspecifiedMatching MONDO:0014537 nephronophthisis 19 skos:exactMatch UMLS:C4015542 semapv:UnspecifiedMatching MONDO:0014538 fibrosis of extraocular muscles, congenital, 5 skos:exactMatch DOID:0081020 congenital fibrosis of the extraocular muscles 5 semapv:UnspecifiedMatching MONDO:0014538 fibrosis of extraocular muscles, congenital, 5 skos:exactMatch MEDGEN:863989 semapv:UnspecifiedMatching MONDO:0014538 fibrosis of extraocular muscles, congenital, 5 skos:exactMatch OMIM:616219 fibrosis of extraocular muscles, congenital, 5 semapv:UnspecifiedMatching MONDO:0014538 fibrosis of extraocular muscles, congenital, 5 skos:exactMatch UMLS:C4015552 semapv:UnspecifiedMatching MONDO:0014539 focal segmental glomerulosclerosis 9 skos:exactMatch DOID:0111134 focal segmental glomerulosclerosis 9 semapv:UnspecifiedMatching MONDO:0014539 focal segmental glomerulosclerosis 9 skos:exactMatch MEDGEN:863992 semapv:UnspecifiedMatching MONDO:0014539 focal segmental glomerulosclerosis 9 skos:exactMatch OMIM:616220 focal segmental glomerulosclerosis 9 semapv:UnspecifiedMatching MONDO:0014539 focal segmental glomerulosclerosis 9 skos:exactMatch UMLS:C4015555 semapv:UnspecifiedMatching MONDO:0014540 amelogenesis imperfecta type 1H skos:exactMatch DOID:0110064 amelogenesis imperfecta type 1H semapv:UnspecifiedMatching MONDO:0014540 amelogenesis imperfecta type 1H skos:exactMatch MEDGEN:863994 semapv:UnspecifiedMatching MONDO:0014540 amelogenesis imperfecta type 1H skos:exactMatch OMIM:616221 amelogenesis imperfecta, type 1h semapv:UnspecifiedMatching MONDO:0014540 amelogenesis imperfecta type 1H skos:exactMatch UMLS:C4015557 semapv:UnspecifiedMatching MONDO:0014541 motor developmental delay due to 14q32.2 paternally expressed gene defect skos:exactMatch DOID:0111713 Temple syndrome semapv:UnspecifiedMatching MONDO:0014541 motor developmental delay due to 14q32.2 paternally expressed gene defect skos:exactMatch MEDGEN:863995 semapv:UnspecifiedMatching MONDO:0014541 motor developmental delay due to 14q32.2 paternally expressed gene defect skos:exactMatch NCIT:C120409 Maternal Uniparental Disomy Chromosome 14 Syndrome semapv:UnspecifiedMatching MONDO:0014541 motor developmental delay due to 14q32.2 paternally expressed gene defect skos:exactMatch OMIM:616222 temple syndrome semapv:UnspecifiedMatching MONDO:0014541 motor developmental delay due to 14q32.2 paternally expressed gene defect skos:exactMatch Orphanet:254516 Temple syndrome semapv:UnspecifiedMatching MONDO:0014541 motor developmental delay due to 14q32.2 paternally expressed gene defect skos:exactMatch UMLS:C4015558 semapv:UnspecifiedMatching MONDO:0014542 congenital myasthenic syndrome 15 skos:exactMatch DOID:0110658 congenital myasthenic syndrome 15 semapv:UnspecifiedMatching MONDO:0014542 congenital myasthenic syndrome 15 skos:exactMatch MEDGEN:864033 semapv:UnspecifiedMatching MONDO:0014542 congenital myasthenic syndrome 15 skos:exactMatch OMIM:616227 myasthenic syndrome, congenital, 15 semapv:UnspecifiedMatching MONDO:0014542 congenital myasthenic syndrome 15 skos:exactMatch UMLS:C4015596 semapv:UnspecifiedMatching MONDO:0014543 congenital myasthenic syndrome 14 skos:exactMatch DOID:0110669 congenital myasthenic syndrome 14 semapv:UnspecifiedMatching MONDO:0014543 congenital myasthenic syndrome 14 skos:exactMatch MEDGEN:864034 semapv:UnspecifiedMatching MONDO:0014543 congenital myasthenic syndrome 14 skos:exactMatch OMIM:616228 myasthenic syndrome, congenital, 14 semapv:UnspecifiedMatching MONDO:0014543 congenital myasthenic syndrome 14 skos:exactMatch UMLS:C4015597 semapv:UnspecifiedMatching MONDO:0014544 osteogenesis imperfecta type 16 skos:exactMatch DOID:0110345 osteogenesis imperfecta type 16 semapv:UnspecifiedMatching MONDO:0014544 osteogenesis imperfecta type 16 skos:exactMatch MEDGEN:864047 semapv:UnspecifiedMatching MONDO:0014544 osteogenesis imperfecta type 16 skos:exactMatch OMIM:616229 osteogenesis imperfecta, type 16 semapv:UnspecifiedMatching MONDO:0014544 osteogenesis imperfecta type 16 skos:exactMatch UMLS:C4015610 semapv:UnspecifiedMatching MONDO:0014545 progressive myoclonic epilepsy type 8 skos:exactMatch DOID:0111451 progressive myoclonus epilepsy 8 semapv:UnspecifiedMatching MONDO:0014545 progressive myoclonic epilepsy type 8 skos:exactMatch MEDGEN:1680582 semapv:UnspecifiedMatching MONDO:0014545 progressive myoclonic epilepsy type 8 skos:exactMatch OMIM:616230 epilepsy, progressive myoclonic, 8 semapv:UnspecifiedMatching MONDO:0014545 progressive myoclonic epilepsy type 8 skos:exactMatch Orphanet:424027 Progressive myoclonic epilepsy type 8 semapv:UnspecifiedMatching MONDO:0014545 progressive myoclonic epilepsy type 8 skos:exactMatch UMLS:C5190825 semapv:UnspecifiedMatching MONDO:0014546 myopathy due to calsequestrin and SERCA1 protein overload skos:exactMatch MEDGEN:864061 semapv:UnspecifiedMatching MONDO:0014546 myopathy due to calsequestrin and SERCA1 protein overload skos:exactMatch OMIM:616231 myopathy, vacuolar, with casq1 aggregates semapv:UnspecifiedMatching MONDO:0014546 myopathy due to calsequestrin and SERCA1 protein overload skos:exactMatch Orphanet:88635 Vacuolar myopathy with sarcoplasmic reticulum protein aggregates semapv:UnspecifiedMatching MONDO:0014546 myopathy due to calsequestrin and SERCA1 protein overload skos:exactMatch SCTID:724095006 semapv:UnspecifiedMatching MONDO:0014546 myopathy due to calsequestrin and SERCA1 protein overload skos:exactMatch UMLS:C4015624 semapv:UnspecifiedMatching MONDO:0014547 combined oxidative phosphorylation defect type 24 skos:exactMatch DOID:0111485 combined oxidative phosphorylation deficiency 24 semapv:UnspecifiedMatching MONDO:0014547 combined oxidative phosphorylation defect type 24 skos:exactMatch MEDGEN:864080 semapv:UnspecifiedMatching MONDO:0014547 combined oxidative phosphorylation defect type 24 skos:exactMatch OMIM:616239 combined oxidative phosphorylation deficiency 24 semapv:UnspecifiedMatching MONDO:0014547 combined oxidative phosphorylation defect type 24 skos:exactMatch Orphanet:444458 Combined oxidative phosphorylation defect type 24 semapv:UnspecifiedMatching MONDO:0014547 combined oxidative phosphorylation defect type 24 skos:exactMatch UMLS:C4015643 semapv:UnspecifiedMatching MONDO:0014548 long QT syndrome 14 skos:exactMatch DOID:0110655 long QT syndrome 14 semapv:UnspecifiedMatching MONDO:0014548 long QT syndrome 14 skos:exactMatch MEDGEN:864108 semapv:UnspecifiedMatching MONDO:0014548 long QT syndrome 14 skos:exactMatch NCIT:C177534 Long QT Syndrome 14 semapv:UnspecifiedMatching MONDO:0014548 long QT syndrome 14 skos:exactMatch OMIM:616247 long qt syndrome 14 semapv:UnspecifiedMatching MONDO:0014548 long QT syndrome 14 skos:exactMatch UMLS:C4015671 semapv:UnspecifiedMatching MONDO:0014549 lethal congenital contracture syndrome 6 skos:exactMatch MEDGEN:864123 semapv:UnspecifiedMatching MONDO:0014549 lethal congenital contracture syndrome 6 skos:exactMatch OMIM:616248 lethal congenital contracture syndrome 6 semapv:UnspecifiedMatching MONDO:0014549 lethal congenital contracture syndrome 6 skos:exactMatch UMLS:C4015686 semapv:UnspecifiedMatching MONDO:0014550 long QT syndrome 15 skos:exactMatch DOID:0110656 long QT syndrome 15 semapv:UnspecifiedMatching MONDO:0014550 long QT syndrome 15 skos:exactMatch MEDGEN:864132 semapv:UnspecifiedMatching MONDO:0014550 long QT syndrome 15 skos:exactMatch OMIM:616249 long qt syndrome 15 semapv:UnspecifiedMatching MONDO:0014550 long QT syndrome 15 skos:exactMatch UMLS:C4015695 semapv:UnspecifiedMatching MONDO:0014551 short stature with nonspecific skeletal abnormalities 1 skos:exactMatch OMIM:616255 short stature with nonspecific skeletal abnormalities 1 semapv:UnspecifiedMatching MONDO:0014552 lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome skos:exactMatch MEDGEN:864138 semapv:UnspecifiedMatching MONDO:0014552 lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome skos:exactMatch OMIM:616258 meckel syndrome 12 semapv:UnspecifiedMatching MONDO:0014552 lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome skos:exactMatch Orphanet:439897 Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome semapv:UnspecifiedMatching MONDO:0014552 lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome skos:exactMatch UMLS:C4015701 semapv:UnspecifiedMatching MONDO:0014553 Tenorio syndrome skos:exactMatch MEDGEN:864147 semapv:UnspecifiedMatching MONDO:0014553 Tenorio syndrome skos:exactMatch OMIM:616260 tenorio syndrome semapv:UnspecifiedMatching MONDO:0014553 Tenorio syndrome skos:exactMatch UMLS:C4015710 semapv:UnspecifiedMatching MONDO:0014555 peeling skin syndrome type A skos:exactMatch DOID:0070522 peeling skin syndrome 3 semapv:UnspecifiedMatching MONDO:0014555 peeling skin syndrome type A skos:exactMatch MEDGEN:864166 semapv:UnspecifiedMatching MONDO:0014555 peeling skin syndrome type A skos:exactMatch OMIM:616265 peeling skin syndrome 3 semapv:UnspecifiedMatching MONDO:0014555 peeling skin syndrome type A skos:exactMatch Orphanet:263548 Peeling skin syndrome type A semapv:UnspecifiedMatching MONDO:0014555 peeling skin syndrome type A skos:exactMatch UMLS:C4015729 semapv:UnspecifiedMatching MONDO:0014556 congenital contractures of the limbs and face, hypotonia, and developmental delay skos:exactMatch DOID:0081048 congenital limbs-face contractures-hypotonia-developmental delay syndrome semapv:UnspecifiedMatching MONDO:0014556 congenital contractures of the limbs and face, hypotonia, and developmental delay skos:exactMatch EFO:1001868 semapv:UnspecifiedMatching MONDO:0014556 congenital contractures of the limbs and face, hypotonia, and developmental delay skos:exactMatch MEDGEN:907234 semapv:UnspecifiedMatching MONDO:0014556 congenital contractures of the limbs and face, hypotonia, and developmental delay skos:exactMatch OMIM:616266 congenital contractures of the limbs and face, hypotonia, and developmental delay semapv:UnspecifiedMatching MONDO:0014556 congenital contractures of the limbs and face, hypotonia, and developmental delay skos:exactMatch Orphanet:562528 Congenital limbs-face contractures-hypotonia-developmental delay syndrome semapv:UnspecifiedMatching MONDO:0014556 congenital contractures of the limbs and face, hypotonia, and developmental delay skos:exactMatch UMLS:C4225398 semapv:UnspecifiedMatching MONDO:0014557 ataxia - oculomotor apraxia type 4 skos:exactMatch DOID:0081383 ataxia-oculomotor apraxia 4 semapv:UnspecifiedMatching MONDO:0014557 ataxia - oculomotor apraxia type 4 skos:exactMatch MEDGEN:902323 semapv:UnspecifiedMatching MONDO:0014557 ataxia - oculomotor apraxia type 4 skos:exactMatch OMIM:616267 ataxia-oculomotor apraxia 4 semapv:UnspecifiedMatching MONDO:0014557 ataxia - oculomotor apraxia type 4 skos:exactMatch Orphanet:459033 Ataxia-oculomotor apraxia type 4 semapv:UnspecifiedMatching MONDO:0014557 ataxia - oculomotor apraxia type 4 skos:exactMatch UMLS:C4225397 semapv:UnspecifiedMatching MONDO:0014558 autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome skos:exactMatch DOID:0070062 Arboleda-Tham syndrome semapv:UnspecifiedMatching MONDO:0014558 autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome skos:exactMatch MEDGEN:903767 semapv:UnspecifiedMatching MONDO:0014558 autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome skos:exactMatch OMIM:616268 arboleda-tham syndrome semapv:UnspecifiedMatching MONDO:0014558 autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome skos:exactMatch Orphanet:457193 KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome semapv:UnspecifiedMatching MONDO:0014558 autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome skos:exactMatch UMLS:C4225396 semapv:UnspecifiedMatching MONDO:0014559 progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome skos:exactMatch DOID:0081212 autosomal recessive intellectual developmental disorder 48 semapv:UnspecifiedMatching MONDO:0014559 progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome skos:exactMatch MEDGEN:895952 semapv:UnspecifiedMatching MONDO:0014559 progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome skos:exactMatch OMIM:616269 intellectual developmental disorder, autosomal recessive 48 semapv:UnspecifiedMatching MONDO:0014559 progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome skos:exactMatch Orphanet:457212 Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome semapv:UnspecifiedMatching MONDO:0014559 progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome skos:exactMatch UMLS:C4225395 semapv:UnspecifiedMatching MONDO:0014560 amelogenesis imperfecta type 1F skos:exactMatch DOID:0110065 amelogenesis imperfecta type 1F semapv:UnspecifiedMatching MONDO:0014560 amelogenesis imperfecta type 1F skos:exactMatch MEDGEN:898597 semapv:UnspecifiedMatching MONDO:0014560 amelogenesis imperfecta type 1F skos:exactMatch OMIM:616270 amelogenesis imperfecta, type 1f semapv:UnspecifiedMatching MONDO:0014560 amelogenesis imperfecta type 1F skos:exactMatch UMLS:C4225394 semapv:UnspecifiedMatching MONDO:0014561 3-methylglutaconic aciduria, type VIIB skos:exactMatch DOID:0081134 3-methylglutaconic aciduria type 7b semapv:UnspecifiedMatching MONDO:0014561 3-methylglutaconic aciduria, type VIIB skos:exactMatch DOID:0110003 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia semapv:UnspecifiedMatching MONDO:0014561 3-methylglutaconic aciduria, type VIIB skos:exactMatch MEDGEN:1810214 semapv:UnspecifiedMatching MONDO:0014561 3-methylglutaconic aciduria, type VIIB skos:exactMatch OMIM:616271 3-methylglutaconic aciduria, type 7b semapv:UnspecifiedMatching MONDO:0014561 3-methylglutaconic aciduria, type VIIB skos:exactMatch Orphanet:445038 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome semapv:UnspecifiedMatching MONDO:0014561 3-methylglutaconic aciduria, type VIIB skos:exactMatch SCTID:764860006 semapv:UnspecifiedMatching MONDO:0014561 3-methylglutaconic aciduria, type VIIB skos:exactMatch UMLS:C5676893 semapv:UnspecifiedMatching MONDO:0014562 neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome skos:exactMatch DOID:0070244 primary coenzyme Q10 deficiency 7 semapv:UnspecifiedMatching MONDO:0014562 neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome skos:exactMatch MEDGEN:1799985 semapv:UnspecifiedMatching MONDO:0014562 neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome skos:exactMatch OMIM:616276 coenzyme Q10 deficiency, primary, 7 semapv:UnspecifiedMatching MONDO:0014562 neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome skos:exactMatch Orphanet:457185 Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome semapv:UnspecifiedMatching MONDO:0014562 neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome skos:exactMatch UMLS:C5568562 semapv:UnspecifiedMatching MONDO:0014563 mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency skos:exactMatch DOID:0070540 mitochondrial short-chain enoyl-CoA hydratase 1 deficiency semapv:UnspecifiedMatching MONDO:0014563 mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency skos:exactMatch MEDGEN:902729 semapv:UnspecifiedMatching MONDO:0014563 mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency skos:exactMatch OMIM:616277 mitochondrial short-chain enoyl-coa hydratase 1 deficiency semapv:UnspecifiedMatching MONDO:0014563 mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency skos:exactMatch Orphanet:653880 Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency semapv:UnspecifiedMatching MONDO:0014563 mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency skos:exactMatch UMLS:C4225391 semapv:UnspecifiedMatching MONDO:0014564 congenital bile acid synthesis defect 5 skos:exactMatch DOID:0111066 congenital bile acid synthesis defect 5 semapv:UnspecifiedMatching MONDO:0014564 congenital bile acid synthesis defect 5 skos:exactMatch MEDGEN:904751 semapv:UnspecifiedMatching MONDO:0014564 congenital bile acid synthesis defect 5 skos:exactMatch OMIM:616278 bile acid synthesis defect, congenital, 5 semapv:UnspecifiedMatching MONDO:0014564 congenital bile acid synthesis defect 5 skos:exactMatch UMLS:C4225390 semapv:UnspecifiedMatching MONDO:0014565 cataract 43 skos:exactMatch DOID:0110259 cataract 43 semapv:UnspecifiedMatching MONDO:0014565 cataract 43 skos:exactMatch MEDGEN:901691 semapv:UnspecifiedMatching MONDO:0014565 cataract 43 skos:exactMatch OMIM:616279 cataract 43 semapv:UnspecifiedMatching MONDO:0014565 cataract 43 skos:exactMatch UMLS:C4225389 semapv:UnspecifiedMatching MONDO:0014566 Charcot-Marie-Tooth disease axonal type 2U skos:exactMatch DOID:0110173 Charcot-Marie-Tooth disease axonal type 2U semapv:UnspecifiedMatching MONDO:0014566 Charcot-Marie-Tooth disease axonal type 2U skos:exactMatch MEDGEN:906504 semapv:UnspecifiedMatching MONDO:0014566 Charcot-Marie-Tooth disease axonal type 2U skos:exactMatch OMIM:616280 charcot-marie-tooth disease, axonal, type 2u semapv:UnspecifiedMatching MONDO:0014566 Charcot-Marie-Tooth disease axonal type 2U skos:exactMatch Orphanet:397735 Autosomal dominant Charcot-Marie-Tooth disease type 2U semapv:UnspecifiedMatching MONDO:0014566 Charcot-Marie-Tooth disease axonal type 2U skos:exactMatch SCTID:765046002 semapv:UnspecifiedMatching MONDO:0014566 Charcot-Marie-Tooth disease axonal type 2U skos:exactMatch UMLS:C4084821 semapv:UnspecifiedMatching MONDO:0014567 glutamate pyruvate transaminase 2 deficiency skos:exactMatch DOID:0070542 neurodevelopmental disorder with spastic paraplegia and microcephaly semapv:UnspecifiedMatching MONDO:0014567 glutamate pyruvate transaminase 2 deficiency skos:exactMatch MEDGEN:906606 semapv:UnspecifiedMatching MONDO:0014567 glutamate pyruvate transaminase 2 deficiency skos:exactMatch OMIM:616281 neurodevelopmental disorder with spastic paraplegia and microcephaly semapv:UnspecifiedMatching MONDO:0014567 glutamate pyruvate transaminase 2 deficiency skos:exactMatch Orphanet:477673 Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0014567 glutamate pyruvate transaminase 2 deficiency skos:exactMatch UMLS:C4225388 semapv:UnspecifiedMatching MONDO:0014568 hereditary spastic paraplegia 73 skos:exactMatch DOID:0110818 hereditary spastic paraplegia 73 semapv:UnspecifiedMatching MONDO:0014568 hereditary spastic paraplegia 73 skos:exactMatch MEDGEN:1800404 semapv:UnspecifiedMatching MONDO:0014568 hereditary spastic paraplegia 73 skos:exactMatch OMIM:616282 spastic paraplegia 73, autosomal dominant semapv:UnspecifiedMatching MONDO:0014568 hereditary spastic paraplegia 73 skos:exactMatch Orphanet:444099 Autosomal dominant spastic paraplegia type 73 semapv:UnspecifiedMatching MONDO:0014568 hereditary spastic paraplegia 73 skos:exactMatch UMLS:C5568981 semapv:UnspecifiedMatching MONDO:0014569 lethal congenital contracture syndrome 7 skos:exactMatch MEDGEN:894160 semapv:UnspecifiedMatching MONDO:0014569 lethal congenital contracture syndrome 7 skos:exactMatch OMIM:616286 lethal congenital contracture syndrome 7 semapv:UnspecifiedMatching MONDO:0014569 lethal congenital contracture syndrome 7 skos:exactMatch UMLS:C4225386 semapv:UnspecifiedMatching MONDO:0014570 lethal congenital contracture syndrome 8 skos:exactMatch MEDGEN:896058 semapv:UnspecifiedMatching MONDO:0014570 lethal congenital contracture syndrome 8 skos:exactMatch OMIM:616287 lethal congenital contracture syndrome 8 semapv:UnspecifiedMatching MONDO:0014570 lethal congenital contracture syndrome 8 skos:exactMatch UMLS:C4225385 semapv:UnspecifiedMatching MONDO:0014571 optic atrophy 9 skos:exactMatch DOID:0111442 optic atrophy 9 semapv:UnspecifiedMatching MONDO:0014571 optic atrophy 9 skos:exactMatch MEDGEN:898858 semapv:UnspecifiedMatching MONDO:0014571 optic atrophy 9 skos:exactMatch OMIM:616289 optic atrophy 9 semapv:UnspecifiedMatching MONDO:0014571 optic atrophy 9 skos:exactMatch UMLS:C4225384 semapv:UnspecifiedMatching MONDO:0014572 Lichtenstein-Knorr syndrome skos:exactMatch DOID:0080065 autosomal recessive spinocerebellar ataxia 19 semapv:UnspecifiedMatching MONDO:0014572 Lichtenstein-Knorr syndrome skos:exactMatch MEDGEN:898996 semapv:UnspecifiedMatching MONDO:0014572 Lichtenstein-Knorr syndrome skos:exactMatch OMIM:616291 lichtenstein-knorr syndrome semapv:UnspecifiedMatching MONDO:0014572 Lichtenstein-Knorr syndrome skos:exactMatch Orphanet:448251 Progressive autosomal recessive ataxia-deafness syndrome semapv:UnspecifiedMatching MONDO:0014572 Lichtenstein-Knorr syndrome skos:exactMatch UMLS:C4225383 semapv:UnspecifiedMatching MONDO:0014573 Cole-Carpenter syndrome 2 skos:exactMatch MEDGEN:905199 semapv:UnspecifiedMatching MONDO:0014573 Cole-Carpenter syndrome 2 skos:exactMatch OMIM:616294 cole-carpenter syndrome 2 semapv:UnspecifiedMatching MONDO:0014573 Cole-Carpenter syndrome 2 skos:exactMatch UMLS:C4225382 semapv:UnspecifiedMatching MONDO:0014574 peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome skos:exactMatch DOID:0070526 PLACK syndrome semapv:UnspecifiedMatching MONDO:0014574 peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome skos:exactMatch MEDGEN:902464 semapv:UnspecifiedMatching MONDO:0014574 peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome skos:exactMatch OMIM:616295 peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads semapv:UnspecifiedMatching MONDO:0014574 peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome skos:exactMatch Orphanet:444138 Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome semapv:UnspecifiedMatching MONDO:0014574 peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome skos:exactMatch UMLS:C4225381 semapv:UnspecifiedMatching MONDO:0014575 Singleton-Merten syndrome 2 skos:exactMatch MEDGEN:907372 semapv:UnspecifiedMatching MONDO:0014575 Singleton-Merten syndrome 2 skos:exactMatch OMIM:616298 singleton-merten syndrome 2 semapv:UnspecifiedMatching MONDO:0014575 Singleton-Merten syndrome 2 skos:exactMatch UMLS:C4225380 semapv:UnspecifiedMatching MONDO:0014576 lipoyl transferase 1 deficiency skos:exactMatch MEDGEN:904073 semapv:UnspecifiedMatching MONDO:0014576 lipoyl transferase 1 deficiency skos:exactMatch OMIM:616299 lipoyltransferase 1 deficiency semapv:UnspecifiedMatching MONDO:0014576 lipoyl transferase 1 deficiency skos:exactMatch Orphanet:401862 Lipoyl transferase 1 deficiency semapv:UnspecifiedMatching MONDO:0014576 lipoyl transferase 1 deficiency skos:exactMatch UMLS:C4225379 semapv:UnspecifiedMatching MONDO:0014577 short-rib thoracic dysplasia 13 with or without polydactyly skos:exactMatch DOID:0110093 short-rib thoracic dysplasia 13 with or without polydactyly semapv:UnspecifiedMatching MONDO:0014577 short-rib thoracic dysplasia 13 with or without polydactyly skos:exactMatch MEDGEN:898712 semapv:UnspecifiedMatching MONDO:0014577 short-rib thoracic dysplasia 13 with or without polydactyly skos:exactMatch OMIM:616300 short-rib thoracic dysplasia 13 with or without polydactyly semapv:UnspecifiedMatching MONDO:0014577 short-rib thoracic dysplasia 13 with or without polydactyly skos:exactMatch UMLS:C4225378 semapv:UnspecifiedMatching MONDO:0014578 congenital myasthenic syndrome 17 skos:exactMatch DOID:0110674 congenital myasthenic syndrome 17 semapv:UnspecifiedMatching MONDO:0014578 congenital myasthenic syndrome 17 skos:exactMatch MEDGEN:895078 semapv:UnspecifiedMatching MONDO:0014578 congenital myasthenic syndrome 17 skos:exactMatch OMIM:616304 myasthenic syndrome, congenital, 17 semapv:UnspecifiedMatching MONDO:0014578 congenital myasthenic syndrome 17 skos:exactMatch UMLS:C4225377 semapv:UnspecifiedMatching MONDO:0014579 Senior-Loken syndrome 8 skos:exactMatch MEDGEN:905171 semapv:UnspecifiedMatching MONDO:0014579 Senior-Loken syndrome 8 skos:exactMatch OMIM:616307 senior-loken syndrome 8 semapv:UnspecifiedMatching MONDO:0014579 Senior-Loken syndrome 8 skos:exactMatch UMLS:C4225376 semapv:UnspecifiedMatching MONDO:0014580 intellectual disability, autosomal dominant 33 skos:exactMatch DOID:0070063 autosomal dominant intellectual developmental disorder 33 semapv:UnspecifiedMatching MONDO:0014580 intellectual disability, autosomal dominant 33 skos:exactMatch MEDGEN:899389 semapv:UnspecifiedMatching MONDO:0014580 intellectual disability, autosomal dominant 33 skos:exactMatch OMIM:616311 intellectual developmental disorder, autosomal dominant 33 semapv:UnspecifiedMatching MONDO:0014580 intellectual disability, autosomal dominant 33 skos:exactMatch UMLS:C4225375 semapv:UnspecifiedMatching MONDO:0014581 congenital myasthenic syndrome 2A skos:exactMatch DOID:0110681 congenital myasthenic syndrome 2A semapv:UnspecifiedMatching MONDO:0014581 congenital myasthenic syndrome 2A skos:exactMatch MEDGEN:908185 semapv:UnspecifiedMatching MONDO:0014581 congenital myasthenic syndrome 2A skos:exactMatch OMIM:616313 myasthenic syndrome, congenital, 2a, slow-channel semapv:UnspecifiedMatching MONDO:0014581 congenital myasthenic syndrome 2A skos:exactMatch UMLS:C4225374 semapv:UnspecifiedMatching MONDO:0014582 congenital myasthenic syndrome 2C skos:exactMatch DOID:0110680 congenital myasthenic syndrome 2C semapv:UnspecifiedMatching MONDO:0014582 congenital myasthenic syndrome 2C skos:exactMatch MEDGEN:903254 semapv:UnspecifiedMatching MONDO:0014582 congenital myasthenic syndrome 2C skos:exactMatch OMIM:616314 myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency semapv:UnspecifiedMatching MONDO:0014582 congenital myasthenic syndrome 2C skos:exactMatch UMLS:C4225373 semapv:UnspecifiedMatching MONDO:0014583 congenital myasthenic syndrome 3A skos:exactMatch DOID:0110666 congenital myasthenic syndrome 3A semapv:UnspecifiedMatching MONDO:0014583 congenital myasthenic syndrome 3A skos:exactMatch MEDGEN:898378 semapv:UnspecifiedMatching MONDO:0014583 congenital myasthenic syndrome 3A skos:exactMatch OMIM:616321 myasthenic syndrome, congenital, 3a, slow-channel semapv:UnspecifiedMatching MONDO:0014583 congenital myasthenic syndrome 3A skos:exactMatch UMLS:C4225372 semapv:UnspecifiedMatching MONDO:0014584 congenital myasthenic syndrome 3B skos:exactMatch DOID:0110665 congenital myasthenic syndrome 3B semapv:UnspecifiedMatching MONDO:0014584 congenital myasthenic syndrome 3B skos:exactMatch MEDGEN:909404 semapv:UnspecifiedMatching MONDO:0014584 congenital myasthenic syndrome 3B skos:exactMatch OMIM:616322 myasthenic syndrome, congenital, 3b, fast-channel semapv:UnspecifiedMatching MONDO:0014584 congenital myasthenic syndrome 3B skos:exactMatch UMLS:C4225371 semapv:UnspecifiedMatching MONDO:0014585 congenital myasthenic syndrome 3C skos:exactMatch DOID:0110664 congenital myasthenic syndrome 3C semapv:UnspecifiedMatching MONDO:0014585 congenital myasthenic syndrome 3C skos:exactMatch MEDGEN:903088 semapv:UnspecifiedMatching MONDO:0014585 congenital myasthenic syndrome 3C skos:exactMatch OMIM:616323 myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency semapv:UnspecifiedMatching MONDO:0014585 congenital myasthenic syndrome 3C skos:exactMatch UMLS:C4225370 semapv:UnspecifiedMatching MONDO:0014586 congenital myasthenic syndrome 4B skos:exactMatch DOID:0110677 congenital myasthenic syndrome 4B semapv:UnspecifiedMatching MONDO:0014586 congenital myasthenic syndrome 4B skos:exactMatch MEDGEN:904424 semapv:UnspecifiedMatching MONDO:0014586 congenital myasthenic syndrome 4B skos:exactMatch OMIM:616324 myasthenic syndrome, congenital, 4b, fast-channel semapv:UnspecifiedMatching MONDO:0014586 congenital myasthenic syndrome 4B skos:exactMatch UMLS:C4225369 semapv:UnspecifiedMatching MONDO:0014587 congenital myasthenic syndrome 9 skos:exactMatch DOID:0110670 congenital myasthenic syndrome 9 semapv:UnspecifiedMatching MONDO:0014587 congenital myasthenic syndrome 9 skos:exactMatch MEDGEN:895641 semapv:UnspecifiedMatching MONDO:0014587 congenital myasthenic syndrome 9 skos:exactMatch OMIM:616325 myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency semapv:UnspecifiedMatching MONDO:0014587 congenital myasthenic syndrome 9 skos:exactMatch UMLS:C4225368 semapv:UnspecifiedMatching MONDO:0014588 congenital myasthenic syndrome 11 skos:exactMatch DOID:0110675 congenital myasthenic syndrome 11 semapv:UnspecifiedMatching MONDO:0014588 congenital myasthenic syndrome 11 skos:exactMatch MEDGEN:902189 semapv:UnspecifiedMatching MONDO:0014588 congenital myasthenic syndrome 11 skos:exactMatch OMIM:616326 myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency semapv:UnspecifiedMatching MONDO:0014588 congenital myasthenic syndrome 11 skos:exactMatch UMLS:C4225367 semapv:UnspecifiedMatching MONDO:0014588 congenital myasthenic syndrome 11 skos:exactMatch mesh:C563831 semapv:UnspecifiedMatching MONDO:0014589 maturity-onset diabetes of the young type 13 skos:exactMatch DOID:0111110 maturity-onset diabetes of the young type 13 semapv:UnspecifiedMatching MONDO:0014589 maturity-onset diabetes of the young type 13 skos:exactMatch MEDGEN:897640 semapv:UnspecifiedMatching MONDO:0014589 maturity-onset diabetes of the young type 13 skos:exactMatch OMIM:616329 maturity-onset diabetes of the young, type 13 semapv:UnspecifiedMatching MONDO:0014589 maturity-onset diabetes of the young type 13 skos:exactMatch UMLS:C4225365 semapv:UnspecifiedMatching MONDO:0014590 congenital myasthenic syndrome 18 skos:exactMatch DOID:0110683 congenital myasthenic syndrome 18 semapv:UnspecifiedMatching MONDO:0014590 congenital myasthenic syndrome 18 skos:exactMatch MEDGEN:906793 semapv:UnspecifiedMatching MONDO:0014590 congenital myasthenic syndrome 18 skos:exactMatch OMIM:616330 developmental and epileptic encephalopathy 117 semapv:UnspecifiedMatching MONDO:0014590 congenital myasthenic syndrome 18 skos:exactMatch UMLS:C4225364 semapv:UnspecifiedMatching MONDO:0014591 autosomal dominant Robinow syndrome 2 skos:exactMatch DOID:0060765 autosomal dominant Robinow syndrome 2 semapv:UnspecifiedMatching MONDO:0014591 autosomal dominant Robinow syndrome 2 skos:exactMatch MEDGEN:897039 semapv:UnspecifiedMatching MONDO:0014591 autosomal dominant Robinow syndrome 2 skos:exactMatch OMIM:616331 robinow syndrome, autosomal dominant 2 semapv:UnspecifiedMatching MONDO:0014591 autosomal dominant Robinow syndrome 2 skos:exactMatch UMLS:C4225363 semapv:UnspecifiedMatching MONDO:0014592 microcephaly and chorioretinopathy 3 skos:exactMatch DOID:0080107 microcephaly and chorioretinopathy 3 semapv:UnspecifiedMatching MONDO:0014592 microcephaly and chorioretinopathy 3 skos:exactMatch MEDGEN:902924 semapv:UnspecifiedMatching MONDO:0014592 microcephaly and chorioretinopathy 3 skos:exactMatch OMIM:616335 microcephaly and chorioretinopathy, autosomal recessive, 3 semapv:UnspecifiedMatching MONDO:0014592 microcephaly and chorioretinopathy 3 skos:exactMatch UMLS:C4225362 semapv:UnspecifiedMatching MONDO:0014593 developmental and epileptic encephalopathy, 29 skos:exactMatch DOID:0080451 developmental and epileptic encephalopathy 29 semapv:UnspecifiedMatching MONDO:0014593 developmental and epileptic encephalopathy, 29 skos:exactMatch MEDGEN:908570 semapv:UnspecifiedMatching MONDO:0014593 developmental and epileptic encephalopathy, 29 skos:exactMatch OMIM:616339 developmental and epileptic encephalopathy 29 semapv:UnspecifiedMatching MONDO:0014593 developmental and epileptic encephalopathy, 29 skos:exactMatch UMLS:C4225361 semapv:UnspecifiedMatching MONDO:0014594 autosomal dominant nonsyndromic hearing loss 67 skos:exactMatch DOID:0110588 autosomal dominant nonsyndromic deafness 67 semapv:UnspecifiedMatching MONDO:0014594 autosomal dominant nonsyndromic hearing loss 67 skos:exactMatch MEDGEN:900413 semapv:UnspecifiedMatching MONDO:0014594 autosomal dominant nonsyndromic hearing loss 67 skos:exactMatch OMIM:616340 deafness, autosomal dominant 67 semapv:UnspecifiedMatching MONDO:0014594 autosomal dominant nonsyndromic hearing loss 67 skos:exactMatch UMLS:C4084712 semapv:UnspecifiedMatching MONDO:0014595 developmental and epileptic encephalopathy, 30 skos:exactMatch DOID:0080465 developmental and epileptic encephalopathy 30 semapv:UnspecifiedMatching MONDO:0014595 developmental and epileptic encephalopathy, 30 skos:exactMatch MEDGEN:898954 semapv:UnspecifiedMatching MONDO:0014595 developmental and epileptic encephalopathy, 30 skos:exactMatch OMIM:616341 developmental and epileptic encephalopathy 30 semapv:UnspecifiedMatching MONDO:0014595 developmental and epileptic encephalopathy, 30 skos:exactMatch UMLS:C4225360 semapv:UnspecifiedMatching MONDO:0014596 lissencephaly 7 with cerebellar hypoplasia skos:exactMatch DOID:0112231 lissencephaly 7 with cerebellar hypoplasia semapv:UnspecifiedMatching MONDO:0014596 lissencephaly 7 with cerebellar hypoplasia skos:exactMatch MEDGEN:895680 semapv:UnspecifiedMatching MONDO:0014596 lissencephaly 7 with cerebellar hypoplasia skos:exactMatch OMIM:616342 lissencephaly 7 with cerebellar hypoplasia semapv:UnspecifiedMatching MONDO:0014596 lissencephaly 7 with cerebellar hypoplasia skos:exactMatch UMLS:C4225359 semapv:UnspecifiedMatching MONDO:0014597 immunodeficiency 39 skos:broadMatch ICD10CM:D84.8 Other specified immunodeficiencies semapv:UnspecifiedMatching MONDO:0014597 immunodeficiency 39 skos:exactMatch DOID:0111969 immunodeficiency 39 semapv:UnspecifiedMatching MONDO:0014597 immunodeficiency 39 skos:exactMatch MEDGEN:904167 semapv:UnspecifiedMatching MONDO:0014597 immunodeficiency 39 skos:exactMatch OMIM:616345 immunodeficiency 39, susceptibility to viral infections semapv:UnspecifiedMatching MONDO:0014597 immunodeficiency 39 skos:exactMatch Orphanet:574918 Predisposition to severe viral infection due to IRF7 deficiency semapv:UnspecifiedMatching MONDO:0014597 immunodeficiency 39 skos:exactMatch SCTID:1269234000 semapv:UnspecifiedMatching MONDO:0014597 immunodeficiency 39 skos:exactMatch UMLS:C4225358 semapv:UnspecifiedMatching MONDO:0014598 developmental and epileptic encephalopathy, 31A skos:exactMatch DOID:0080437 developmental and epileptic encephalopathy 31A semapv:UnspecifiedMatching MONDO:0014598 developmental and epileptic encephalopathy, 31A skos:exactMatch MEDGEN:894942 semapv:UnspecifiedMatching MONDO:0014598 developmental and epileptic encephalopathy, 31A skos:exactMatch OMIM:616346 developmental and epileptic encephalopathy 31a semapv:UnspecifiedMatching MONDO:0014598 developmental and epileptic encephalopathy, 31A skos:exactMatch UMLS:C4225357 semapv:UnspecifiedMatching MONDO:0014599 intellectual disability, autosomal dominant 34 skos:exactMatch DOID:0070064 autosomal dominant intellectual developmental disorder 34 semapv:UnspecifiedMatching MONDO:0014599 intellectual disability, autosomal dominant 34 skos:exactMatch MEDGEN:907277 semapv:UnspecifiedMatching MONDO:0014599 intellectual disability, autosomal dominant 34 skos:exactMatch OMIM:616351 neurodevelopmental disorder with hypotonia, speech delay, and dysmorphic facies semapv:UnspecifiedMatching MONDO:0014599 intellectual disability, autosomal dominant 34 skos:exactMatch UMLS:C4225156 semapv:UnspecifiedMatching MONDO:0014600 dyskeratosis congenita, autosomal recessive 6 skos:exactMatch DOID:0070024 autosomal recessive dyskeratosis congenita 6 semapv:UnspecifiedMatching MONDO:0014600 dyskeratosis congenita, autosomal recessive 6 skos:exactMatch MEDGEN:905452 semapv:UnspecifiedMatching MONDO:0014600 dyskeratosis congenita, autosomal recessive 6 skos:exactMatch NCIT:C176929 Dyskeratosis Congenita, Autosomal Recessive 6 semapv:UnspecifiedMatching MONDO:0014600 dyskeratosis congenita, autosomal recessive 6 skos:exactMatch OMIM:616353 dyskeratosis congenita, autosomal recessive 6 semapv:UnspecifiedMatching MONDO:0014600 dyskeratosis congenita, autosomal recessive 6 skos:exactMatch UMLS:C4225356 semapv:UnspecifiedMatching MONDO:0014601 autosomal recessive spinocerebellar ataxia 20 skos:exactMatch DOID:0080066 autosomal recessive spinocerebellar ataxia 20 semapv:UnspecifiedMatching MONDO:0014601 autosomal recessive spinocerebellar ataxia 20 skos:exactMatch MEDGEN:1684324 semapv:UnspecifiedMatching MONDO:0014601 autosomal recessive spinocerebellar ataxia 20 skos:exactMatch OMIM:616354 spinocerebellar ataxia, autosomal recessive 20 semapv:UnspecifiedMatching MONDO:0014601 autosomal recessive spinocerebellar ataxia 20 skos:exactMatch Orphanet:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome semapv:UnspecifiedMatching MONDO:0014601 autosomal recessive spinocerebellar ataxia 20 skos:exactMatch UMLS:C5190595 semapv:UnspecifiedMatching MONDO:0014602 Houge-Janssens syndrome 1 skos:exactMatch DOID:0070065 autosomal dominant intellectual developmental disorder 35 semapv:UnspecifiedMatching MONDO:0014602 Houge-Janssens syndrome 1 skos:exactMatch MEDGEN:1830493 semapv:UnspecifiedMatching MONDO:0014602 Houge-Janssens syndrome 1 skos:exactMatch OMIM:616355 houge-janssens syndrome 1 semapv:UnspecifiedMatching MONDO:0014602 Houge-Janssens syndrome 1 skos:exactMatch Orphanet:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome semapv:UnspecifiedMatching MONDO:0014602 Houge-Janssens syndrome 1 skos:exactMatch UMLS:C5779996 semapv:UnspecifiedMatching MONDO:0014603 autosomal dominant nonsyndromic hearing loss 40 skos:exactMatch DOID:0110566 autosomal dominant nonsyndromic deafness 40 semapv:UnspecifiedMatching MONDO:0014603 autosomal dominant nonsyndromic hearing loss 40 skos:exactMatch MEDGEN:896665 semapv:UnspecifiedMatching MONDO:0014603 autosomal dominant nonsyndromic hearing loss 40 skos:exactMatch OMIM:616357 deafness, autosomal dominant 40 semapv:UnspecifiedMatching MONDO:0014603 autosomal dominant nonsyndromic hearing loss 40 skos:exactMatch UMLS:C4084708 semapv:UnspecifiedMatching MONDO:0014604 Parkinson disease 21 skos:exactMatch DOID:0111251 Parkinson's disease 21 semapv:UnspecifiedMatching MONDO:0014604 Parkinson disease 21 skos:exactMatch MEDGEN:903105 semapv:UnspecifiedMatching MONDO:0014604 Parkinson disease 21 skos:exactMatch OMIM:616361 parkinson disease 21 semapv:UnspecifiedMatching MONDO:0014604 Parkinson disease 21 skos:exactMatch UMLS:C4225353 semapv:UnspecifiedMatching MONDO:0014605 Houge-Janssens syndrome 2 skos:exactMatch DOID:0070066 autosomal dominant intellectual developmental disorder 36 semapv:UnspecifiedMatching MONDO:0014605 Houge-Janssens syndrome 2 skos:exactMatch MEDGEN:899880 semapv:UnspecifiedMatching MONDO:0014605 Houge-Janssens syndrome 2 skos:exactMatch OMIM:616362 houge-janssens syndrome 2 semapv:UnspecifiedMatching MONDO:0014605 Houge-Janssens syndrome 2 skos:exactMatch Orphanet:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome semapv:UnspecifiedMatching MONDO:0014605 Houge-Janssens syndrome 2 skos:exactMatch UMLS:C4225352 semapv:UnspecifiedMatching MONDO:0014606 intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome skos:exactMatch DOID:0070067 White-Sutton syndrome semapv:UnspecifiedMatching MONDO:0014606 intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome skos:exactMatch MEDGEN:897984 semapv:UnspecifiedMatching MONDO:0014606 intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome skos:exactMatch OMIM:616364 white-sutton syndrome semapv:UnspecifiedMatching MONDO:0014606 intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome skos:exactMatch Orphanet:468678 White-Sutton syndrome semapv:UnspecifiedMatching MONDO:0014606 intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome skos:exactMatch UMLS:C4225351 semapv:UnspecifiedMatching MONDO:0014607 developmental and epileptic encephalopathy, 32 skos:exactMatch DOID:0080416 developmental and epileptic encephalopathy 32 semapv:UnspecifiedMatching MONDO:0014607 developmental and epileptic encephalopathy, 32 skos:exactMatch MEDGEN:909501 semapv:UnspecifiedMatching MONDO:0014607 developmental and epileptic encephalopathy, 32 skos:exactMatch OMIM:616366 developmental and epileptic encephalopathy 32 semapv:UnspecifiedMatching MONDO:0014607 developmental and epileptic encephalopathy, 32 skos:exactMatch UMLS:C4225350 semapv:UnspecifiedMatching MONDO:0014608 mandibulofacial dysostosis with alopecia skos:exactMatch DOID:0060365 mandibulofacial dysostosis with alopecia semapv:UnspecifiedMatching MONDO:0014608 mandibulofacial dysostosis with alopecia skos:exactMatch MEDGEN:898794 semapv:UnspecifiedMatching MONDO:0014608 mandibulofacial dysostosis with alopecia skos:exactMatch OMIM:616367 mandibulofacial dysostosis with alopecia semapv:UnspecifiedMatching MONDO:0014608 mandibulofacial dysostosis with alopecia skos:exactMatch Orphanet:443995 Mandibulofacial dysostosis with alopecia semapv:UnspecifiedMatching MONDO:0014608 mandibulofacial dysostosis with alopecia skos:exactMatch UMLS:C4225349 semapv:UnspecifiedMatching MONDO:0014609 cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome skos:exactMatch MEDGEN:894554 semapv:UnspecifiedMatching MONDO:0014609 cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome skos:exactMatch OMIM:616368 CHOPS syndrome semapv:UnspecifiedMatching MONDO:0014609 cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome skos:exactMatch Orphanet:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome semapv:UnspecifiedMatching MONDO:0014609 cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome skos:exactMatch SCTID:764455002 semapv:UnspecifiedMatching MONDO:0014609 cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome skos:exactMatch UMLS:C4085597 semapv:UnspecifiedMatching MONDO:0014611 multiple mitochondrial dysfunctions syndrome 4 skos:exactMatch DOID:0080136 multiple mitochondrial dysfunctions syndrome 4 semapv:UnspecifiedMatching MONDO:0014611 multiple mitochondrial dysfunctions syndrome 4 skos:exactMatch MEDGEN:899010 semapv:UnspecifiedMatching MONDO:0014611 multiple mitochondrial dysfunctions syndrome 4 skos:exactMatch OMIM:616370 multiple mitochondrial dysfunctions syndrome 4 semapv:UnspecifiedMatching MONDO:0014611 multiple mitochondrial dysfunctions syndrome 4 skos:exactMatch Orphanet:457406 Multiple mitochondrial dysfunctions syndrome type 4 semapv:UnspecifiedMatching MONDO:0014611 multiple mitochondrial dysfunctions syndrome 4 skos:exactMatch UMLS:C4225348 semapv:UnspecifiedMatching MONDO:0014612 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 skos:exactMatch MEDGEN:903928 semapv:UnspecifiedMatching MONDO:0014612 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 skos:exactMatch OMIM:616371 pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 4 semapv:UnspecifiedMatching MONDO:0014612 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 skos:exactMatch UMLS:C4225347 semapv:UnspecifiedMatching MONDO:0014613 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 skos:exactMatch MEDGEN:901644 semapv:UnspecifiedMatching MONDO:0014613 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 skos:exactMatch OMIM:616373 pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 3 semapv:UnspecifiedMatching MONDO:0014613 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 skos:exactMatch UMLS:C4225346 semapv:UnspecifiedMatching MONDO:0014614 congenital stationary night blindness 1G skos:exactMatch DOID:0110714 congenital stationary night blindness 1G semapv:UnspecifiedMatching MONDO:0014614 congenital stationary night blindness 1G skos:exactMatch MEDGEN:906532 semapv:UnspecifiedMatching MONDO:0014614 congenital stationary night blindness 1G skos:exactMatch OMIM:616389 night blindness, congenital stationary, type 1g semapv:UnspecifiedMatching MONDO:0014614 congenital stationary night blindness 1G skos:exactMatch UMLS:C4225345 semapv:UnspecifiedMatching MONDO:0014615 trichothiodystrophy 2, photosensitive skos:exactMatch DOID:0111869 photosensitive trichothiodystrophy 2 semapv:UnspecifiedMatching MONDO:0014615 trichothiodystrophy 2, photosensitive skos:exactMatch MEDGEN:905904 semapv:UnspecifiedMatching MONDO:0014615 trichothiodystrophy 2, photosensitive skos:exactMatch NCIT:C173103 Trichothiodystrophy 2, Photosensitive semapv:UnspecifiedMatching MONDO:0014615 trichothiodystrophy 2, photosensitive skos:exactMatch OMIM:616390 trichothiodystrophy 2, photosensitive semapv:UnspecifiedMatching MONDO:0014615 trichothiodystrophy 2, photosensitive skos:exactMatch UMLS:C4225344 semapv:UnspecifiedMatching MONDO:0014616 obsolete Skint1-like pseudogene skos:exactMatch OMIM:616392 skint1-like pseudogene semapv:UnspecifiedMatching MONDO:0014617 intellectual disability, autosomal dominant 38 skos:exactMatch DOID:0070068 autosomal dominant intellectual developmental disorder 38 semapv:UnspecifiedMatching MONDO:0014617 intellectual disability, autosomal dominant 38 skos:exactMatch MEDGEN:895359 semapv:UnspecifiedMatching MONDO:0014617 intellectual disability, autosomal dominant 38 skos:exactMatch OMIM:616393 intellectual developmental disorder, autosomal dominant 38 semapv:UnspecifiedMatching MONDO:0014617 intellectual disability, autosomal dominant 38 skos:exactMatch UMLS:C4225343 semapv:UnspecifiedMatching MONDO:0014618 retinitis pigmentosa 71 skos:exactMatch DOID:0110363 retinitis pigmentosa 71 semapv:UnspecifiedMatching MONDO:0014618 retinitis pigmentosa 71 skos:exactMatch MEDGEN:897209 semapv:UnspecifiedMatching MONDO:0014618 retinitis pigmentosa 71 skos:exactMatch OMIM:616394 retinitis pigmentosa 71 semapv:UnspecifiedMatching MONDO:0014618 retinitis pigmentosa 71 skos:exactMatch UMLS:C4225342 semapv:UnspecifiedMatching MONDO:0014619 trichothiodystrophy 3, photosensitive skos:exactMatch DOID:0111871 photosensitive trichothiodystrophy 3 semapv:UnspecifiedMatching MONDO:0014619 trichothiodystrophy 3, photosensitive skos:exactMatch MEDGEN:865608 semapv:UnspecifiedMatching MONDO:0014619 trichothiodystrophy 3, photosensitive skos:exactMatch NCIT:C173099 Trichothiodystrophy 3, Photosensitive semapv:UnspecifiedMatching MONDO:0014619 trichothiodystrophy 3, photosensitive skos:exactMatch OMIM:616395 trichothiodystrophy 3, photosensitive semapv:UnspecifiedMatching MONDO:0014619 trichothiodystrophy 3, photosensitive skos:exactMatch UMLS:C4017171 semapv:UnspecifiedMatching MONDO:0014620 myoclonic dystonia 26 skos:exactMatch DOID:0090036 myoclonic dystonia 26 semapv:UnspecifiedMatching MONDO:0014620 myoclonic dystonia 26 skos:exactMatch MEDGEN:904244 semapv:UnspecifiedMatching MONDO:0014620 myoclonic dystonia 26 skos:exactMatch OMIM:616398 dystonia 26, myoclonic semapv:UnspecifiedMatching MONDO:0014620 myoclonic dystonia 26 skos:exactMatch UMLS:C4225341 semapv:UnspecifiedMatching MONDO:0014621 Brugada syndrome 9 skos:exactMatch DOID:0110226 Brugada syndrome 9 semapv:UnspecifiedMatching MONDO:0014621 Brugada syndrome 9 skos:exactMatch MEDGEN:903155 semapv:UnspecifiedMatching MONDO:0014621 Brugada syndrome 9 skos:exactMatch OMIM:616399 brugada syndrome 9 semapv:UnspecifiedMatching MONDO:0014621 Brugada syndrome 9 skos:exactMatch UMLS:C4225340 semapv:UnspecifiedMatching MONDO:0014622 isolated focal non-epidermolytic palmoplantar keratoderma skos:exactMatch DOID:0111708 focal nonepidermolytic palmoplantar keratoderma semapv:UnspecifiedMatching MONDO:0014622 isolated focal non-epidermolytic palmoplantar keratoderma skos:exactMatch DOID:0111711 focal nonepidermolytic palmoplantar keratoderma 2 semapv:UnspecifiedMatching MONDO:0014622 isolated focal non-epidermolytic palmoplantar keratoderma skos:exactMatch MEDGEN:895056 semapv:UnspecifiedMatching MONDO:0014622 isolated focal non-epidermolytic palmoplantar keratoderma skos:exactMatch OMIM:616400 palmoplantar keratoderma, nonepidermolytic, focal 2 semapv:UnspecifiedMatching MONDO:0014622 isolated focal non-epidermolytic palmoplantar keratoderma skos:exactMatch Orphanet:448264 Isolated focal non-epidermolytic palmoplantar keratoderma semapv:UnspecifiedMatching MONDO:0014622 isolated focal non-epidermolytic palmoplantar keratoderma skos:exactMatch UMLS:C4225339 semapv:UnspecifiedMatching MONDO:0014623 microcephaly 14, primary, autosomal recessive skos:exactMatch DOID:0070279 primary autosomal recessive microcephaly 14 semapv:UnspecifiedMatching MONDO:0014623 microcephaly 14, primary, autosomal recessive skos:exactMatch MEDGEN:906798 semapv:UnspecifiedMatching MONDO:0014623 microcephaly 14, primary, autosomal recessive skos:exactMatch OMIM:616402 microcephaly 14, primary, autosomal recessive semapv:UnspecifiedMatching MONDO:0014623 microcephaly 14, primary, autosomal recessive skos:exactMatch UMLS:C4225338 semapv:UnspecifiedMatching MONDO:0014624 Brown syndrome skos:exactMatch DOID:10235 Brown's tendon sheath syndrome semapv:UnspecifiedMatching MONDO:0014624 Brown syndrome skos:exactMatch ICD10CM:H50.61 Brown's sheath syndrome semapv:UnspecifiedMatching MONDO:0014624 Brown syndrome skos:exactMatch MEDGEN:102332 semapv:UnspecifiedMatching MONDO:0014624 Brown syndrome skos:exactMatch OMIM:616407 brown syndrome semapv:UnspecifiedMatching MONDO:0014624 Brown syndrome skos:exactMatch SCTID:35929003 semapv:UnspecifiedMatching MONDO:0014624 Brown syndrome skos:exactMatch UMLS:C0155339 semapv:UnspecifiedMatching MONDO:0014625 developmental and epileptic encephalopathy, 33 skos:exactMatch DOID:0080463 developmental and epileptic encephalopathy 33 semapv:UnspecifiedMatching MONDO:0014625 developmental and epileptic encephalopathy, 33 skos:exactMatch MEDGEN:897930 semapv:UnspecifiedMatching MONDO:0014625 developmental and epileptic encephalopathy, 33 skos:exactMatch OMIM:616409 developmental and epileptic encephalopathy 33 semapv:UnspecifiedMatching MONDO:0014625 developmental and epileptic encephalopathy, 33 skos:exactMatch UMLS:C4225337 semapv:UnspecifiedMatching MONDO:0014626 spinocerebellar ataxia type 41 skos:exactMatch DOID:0111744 cerebellar ataxia type 41 semapv:UnspecifiedMatching MONDO:0014626 spinocerebellar ataxia type 41 skos:exactMatch MEDGEN:908281 semapv:UnspecifiedMatching MONDO:0014626 spinocerebellar ataxia type 41 skos:exactMatch OMIM:616410 spinocerebellar ataxia 41 semapv:UnspecifiedMatching MONDO:0014626 spinocerebellar ataxia type 41 skos:exactMatch Orphanet:458798 Spinocerebellar ataxia type 41 semapv:UnspecifiedMatching MONDO:0014626 spinocerebellar ataxia type 41 skos:exactMatch UMLS:C4225158 semapv:UnspecifiedMatching MONDO:0014627 dystonia 27 skos:exactMatch DOID:0090050 dystonia 27 semapv:UnspecifiedMatching MONDO:0014627 dystonia 27 skos:exactMatch MEDGEN:907580 semapv:UnspecifiedMatching MONDO:0014627 dystonia 27 skos:exactMatch OMIM:616411 dystonia 27 semapv:UnspecifiedMatching MONDO:0014627 dystonia 27 skos:exactMatch Orphanet:464440 Primary dystonia, DYT27 type semapv:UnspecifiedMatching MONDO:0014627 dystonia 27 skos:exactMatch UMLS:C4225336 semapv:UnspecifiedMatching MONDO:0014628 basal ganglia calcification, idiopathic, 6 skos:exactMatch MEDGEN:901404 semapv:UnspecifiedMatching MONDO:0014628 basal ganglia calcification, idiopathic, 6 skos:exactMatch OMIM:616413 basal ganglia calcification, idiopathic, 6 semapv:UnspecifiedMatching MONDO:0014628 basal ganglia calcification, idiopathic, 6 skos:exactMatch UMLS:C4225335 semapv:UnspecifiedMatching MONDO:0014629 autoimmune interstitial lung disease-arthritis syndrome skos:exactMatch DOID:0081242 autoimmune interstitial lung, joint, and kidney disease semapv:UnspecifiedMatching MONDO:0014629 autoimmune interstitial lung disease-arthritis syndrome skos:exactMatch OMIMPS:616414 Autoinflammation and autoimmunity, systemic, with immune dysregulation semapv:UnspecifiedMatching MONDO:0014629 autoimmune interstitial lung disease-arthritis syndrome skos:exactMatch Orphanet:444092 Autoimmune interstitial lung disease-arthritis syndrome semapv:UnspecifiedMatching MONDO:0014630 familial adenomatous polyposis 3 skos:exactMatch DOID:0080411 familial adenomatous polyposis 3 semapv:UnspecifiedMatching MONDO:0014630 familial adenomatous polyposis 3 skos:exactMatch MEDGEN:902388 semapv:UnspecifiedMatching MONDO:0014630 familial adenomatous polyposis 3 skos:exactMatch OMIM:616415 familial adenomatous polyposis 3 semapv:UnspecifiedMatching MONDO:0014630 familial adenomatous polyposis 3 skos:exactMatch Orphanet:454840 NTHL1-related polyposis semapv:UnspecifiedMatching MONDO:0014630 familial adenomatous polyposis 3 skos:exactMatch UMLS:C4225157 semapv:UnspecifiedMatching MONDO:0014631 hypomagnesemia, seizures, and intellectual disability skos:exactMatch OMIMPS:616418 Hypomagnesemia, seizures, and mental retardation semapv:UnspecifiedMatching MONDO:0014632 hypomyelinating leukodystrophy 10 skos:exactMatch DOID:0060788 hypomyelinating leukodystrophy 10 semapv:UnspecifiedMatching MONDO:0014632 hypomyelinating leukodystrophy 10 skos:exactMatch MEDGEN:904191 semapv:UnspecifiedMatching MONDO:0014632 hypomyelinating leukodystrophy 10 skos:exactMatch OMIM:616420 leukodystrophy, hypomyelinating, 10 semapv:UnspecifiedMatching MONDO:0014632 hypomyelinating leukodystrophy 10 skos:exactMatch Orphanet:481152 PYCR2-related microcephaly-progressive leukoencephalopathy semapv:UnspecifiedMatching MONDO:0014632 hypomyelinating leukodystrophy 10 skos:exactMatch UMLS:C4225332 semapv:UnspecifiedMatching MONDO:0014633 epilepsy with myoclonic atonic seizures skos:exactMatch DOID:0060475 myoclonic-atonic epilepsy semapv:UnspecifiedMatching MONDO:0014633 epilepsy with myoclonic atonic seizures skos:exactMatch MEDGEN:98284 semapv:UnspecifiedMatching MONDO:0014633 epilepsy with myoclonic atonic seizures skos:exactMatch OMIM:616421 myoclonic-atonic epilepsy semapv:UnspecifiedMatching MONDO:0014633 epilepsy with myoclonic atonic seizures skos:exactMatch Orphanet:1942 Epilepsy with myoclonic-atonic seizures semapv:UnspecifiedMatching MONDO:0014633 epilepsy with myoclonic atonic seizures skos:exactMatch SCTID:230421008 semapv:UnspecifiedMatching MONDO:0014633 epilepsy with myoclonic atonic seizures skos:exactMatch UMLS:C0393702 semapv:UnspecifiedMatching MONDO:0014633 epilepsy with myoclonic atonic seizures skos:exactMatch icd11.foundation:951920505 Epilepsy with myoclonic-astatic seizures semapv:UnspecifiedMatching MONDO:0014634 46,XY sex reversal 10 skos:exactMatch DOID:0111775 46,XY sex reversal 10 semapv:UnspecifiedMatching MONDO:0014634 46,XY sex reversal 10 skos:exactMatch MEDGEN:897538 semapv:UnspecifiedMatching MONDO:0014634 46,XY sex reversal 10 skos:exactMatch OMIM:616425 46,xy sex reversal 10 semapv:UnspecifiedMatching MONDO:0014634 46,XY sex reversal 10 skos:exactMatch UMLS:C4225331 semapv:UnspecifiedMatching MONDO:0014635 microphthalmia, isolated, with coloboma 10 skos:exactMatch MEDGEN:909133 semapv:UnspecifiedMatching MONDO:0014635 microphthalmia, isolated, with coloboma 10 skos:exactMatch OMIM:616428 microphthalmia/coloboma 10 semapv:UnspecifiedMatching MONDO:0014635 microphthalmia, isolated, with coloboma 10 skos:exactMatch UMLS:C4225330 semapv:UnspecifiedMatching MONDO:0014636 combined oxidative phosphorylation defect type 25 skos:exactMatch DOID:0111468 combined oxidative phosphorylation deficiency 25 semapv:UnspecifiedMatching MONDO:0014636 combined oxidative phosphorylation defect type 25 skos:exactMatch MEDGEN:1799165 semapv:UnspecifiedMatching MONDO:0014636 combined oxidative phosphorylation defect type 25 skos:exactMatch OMIM:616430 combined oxidative phosphorylation deficiency 25 semapv:UnspecifiedMatching MONDO:0014636 combined oxidative phosphorylation defect type 25 skos:exactMatch Orphanet:447954 Combined oxidative phosphorylation defect type 25 semapv:UnspecifiedMatching MONDO:0014636 combined oxidative phosphorylation defect type 25 skos:exactMatch UMLS:C5567742 semapv:UnspecifiedMatching MONDO:0014637 DOCK2 deficiency skos:exactMatch DOID:0111951 immunodeficiency 40 semapv:UnspecifiedMatching MONDO:0014637 DOCK2 deficiency skos:exactMatch MEDGEN:901370 semapv:UnspecifiedMatching MONDO:0014637 DOCK2 deficiency skos:exactMatch OMIM:616433 immunodeficiency 40 semapv:UnspecifiedMatching MONDO:0014637 DOCK2 deficiency skos:exactMatch Orphanet:447737 Combined immunodeficiency due to DOCK2 deficiency semapv:UnspecifiedMatching MONDO:0014637 DOCK2 deficiency skos:exactMatch UMLS:C4225328 semapv:UnspecifiedMatching MONDO:0014638 Fanconi anemia complementation group T skos:exactMatch DOID:0111081 Fanconi anemia complementation group T semapv:UnspecifiedMatching MONDO:0014638 Fanconi anemia complementation group T skos:exactMatch MEDGEN:896157 semapv:UnspecifiedMatching MONDO:0014638 Fanconi anemia complementation group T skos:exactMatch OMIM:616435 fanconi anemia, complementation group t semapv:UnspecifiedMatching MONDO:0014638 Fanconi anemia complementation group T skos:exactMatch UMLS:C4084840 semapv:UnspecifiedMatching MONDO:0014639 familial temporal lobe epilepsy 7 skos:exactMatch DOID:0060751 familial temporal lobe epilepsy 7 semapv:UnspecifiedMatching MONDO:0014639 familial temporal lobe epilepsy 7 skos:exactMatch MEDGEN:907609 semapv:UnspecifiedMatching MONDO:0014639 familial temporal lobe epilepsy 7 skos:exactMatch OMIM:616436 epilepsy, familial temporal lobe, 7 semapv:UnspecifiedMatching MONDO:0014639 familial temporal lobe epilepsy 7 skos:exactMatch UMLS:C4225327 semapv:UnspecifiedMatching MONDO:0014640 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 skos:exactMatch DOID:0110068 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 semapv:UnspecifiedMatching MONDO:0014640 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 skos:exactMatch MEDGEN:897127 semapv:UnspecifiedMatching MONDO:0014640 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 skos:exactMatch OMIM:616437 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 semapv:UnspecifiedMatching MONDO:0014640 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 skos:exactMatch UMLS:C4225326 semapv:UnspecifiedMatching MONDO:0014641 frontotemporal dementia and/or amyotrophic lateral sclerosis 4 skos:exactMatch DOID:0110069 frontotemporal dementia and/or amyotrophic lateral sclerosis 4 semapv:UnspecifiedMatching MONDO:0014641 frontotemporal dementia and/or amyotrophic lateral sclerosis 4 skos:exactMatch MEDGEN:902979 semapv:UnspecifiedMatching MONDO:0014641 frontotemporal dementia and/or amyotrophic lateral sclerosis 4 skos:exactMatch OMIM:616439 frontotemporal dementia and/or amyotrophic lateral sclerosis 4 semapv:UnspecifiedMatching MONDO:0014641 frontotemporal dementia and/or amyotrophic lateral sclerosis 4 skos:exactMatch UMLS:C4225325 semapv:UnspecifiedMatching MONDO:0014642 candidiasis, familial, 9 skos:exactMatch MEDGEN:906897 semapv:UnspecifiedMatching MONDO:0014642 candidiasis, familial, 9 skos:exactMatch OMIM:616445 candidiasis, familial, 9 semapv:UnspecifiedMatching MONDO:0014642 candidiasis, familial, 9 skos:exactMatch UMLS:C4225324 semapv:UnspecifiedMatching MONDO:0014643 congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome skos:exactMatch MEDGEN:897292 semapv:UnspecifiedMatching MONDO:0014643 congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome skos:exactMatch OMIM:616449 basel-vanagaite-smirin-yosef syndrome semapv:UnspecifiedMatching MONDO:0014643 congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome skos:exactMatch Orphanet:464738 Basel-Vanagaite-Smirin-Yosef syndrome semapv:UnspecifiedMatching MONDO:0014643 congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome skos:exactMatch UMLS:C4225323 semapv:UnspecifiedMatching MONDO:0014644 hereditary spastic paraplegia 74 skos:exactMatch DOID:0110819 hereditary spastic paraplegia 74 semapv:UnspecifiedMatching MONDO:0014644 hereditary spastic paraplegia 74 skos:exactMatch MEDGEN:1800260 semapv:UnspecifiedMatching MONDO:0014644 hereditary spastic paraplegia 74 skos:exactMatch OMIM:616451 spastic paraplegia 74, autosomal recessive semapv:UnspecifiedMatching MONDO:0014644 hereditary spastic paraplegia 74 skos:exactMatch Orphanet:468661 Autosomal recessive spastic paraplegia type 74 semapv:UnspecifiedMatching MONDO:0014644 hereditary spastic paraplegia 74 skos:exactMatch UMLS:C5568837 semapv:UnspecifiedMatching MONDO:0014645 BENTA disease skos:exactMatch MEDGEN:1641265 semapv:UnspecifiedMatching MONDO:0014645 BENTA disease skos:exactMatch OMIM:616452 b-cell expansion with nfkb and t-cell anergy semapv:UnspecifiedMatching MONDO:0014645 BENTA disease skos:exactMatch Orphanet:464336 BENTA disease semapv:UnspecifiedMatching MONDO:0014645 BENTA disease skos:exactMatch UMLS:C4551967 semapv:UnspecifiedMatching MONDO:0014646 Zimmermann-Laband syndrome 2 skos:exactMatch MEDGEN:897567 semapv:UnspecifiedMatching MONDO:0014646 Zimmermann-Laband syndrome 2 skos:exactMatch OMIM:616455 zimmermann-laband syndrome 2 semapv:UnspecifiedMatching MONDO:0014646 Zimmermann-Laband syndrome 2 skos:exactMatch UMLS:C4225321 semapv:UnspecifiedMatching MONDO:0014647 developmental and epileptic encephalopathy, 50 skos:exactMatch DOID:0080419 developmental and epileptic encephalopathy 50 semapv:UnspecifiedMatching MONDO:0014647 developmental and epileptic encephalopathy, 50 skos:exactMatch MEDGEN:904125 semapv:UnspecifiedMatching MONDO:0014647 developmental and epileptic encephalopathy, 50 skos:exactMatch OMIM:616457 developmental and epileptic encephalopathy 50 semapv:UnspecifiedMatching MONDO:0014647 developmental and epileptic encephalopathy, 50 skos:exactMatch Orphanet:448010 CAD-CDG semapv:UnspecifiedMatching MONDO:0014647 developmental and epileptic encephalopathy, 50 skos:exactMatch UMLS:C4225320 semapv:UnspecifiedMatching MONDO:0014648 Al-Raqad syndrome skos:exactMatch MEDGEN:897610 semapv:UnspecifiedMatching MONDO:0014648 Al-Raqad syndrome skos:exactMatch OMIM:616459 al-raqad syndrome semapv:UnspecifiedMatching MONDO:0014648 Al-Raqad syndrome skos:exactMatch UMLS:C4085595 semapv:UnspecifiedMatching MONDO:0014649 intellectual disability, autosomal recessive 50 skos:exactMatch DOID:0081213 autosomal recessive intellectual developmental disorder 50 semapv:UnspecifiedMatching MONDO:0014649 intellectual disability, autosomal recessive 50 skos:exactMatch MEDGEN:906893 semapv:UnspecifiedMatching MONDO:0014649 intellectual disability, autosomal recessive 50 skos:exactMatch OMIM:616460 intellectual developmental disorder, autosomal recessive 50 semapv:UnspecifiedMatching MONDO:0014649 intellectual disability, autosomal recessive 50 skos:exactMatch UMLS:C4225319 semapv:UnspecifiedMatching MONDO:0014650 familial temporal lobe epilepsy 8 skos:exactMatch DOID:0060754 familial temporal lobe epilepsy 8 semapv:UnspecifiedMatching MONDO:0014650 familial temporal lobe epilepsy 8 skos:exactMatch MEDGEN:909158 semapv:UnspecifiedMatching MONDO:0014650 familial temporal lobe epilepsy 8 skos:exactMatch OMIM:616461 epilepsy, familial temporal lobe, 8 semapv:UnspecifiedMatching MONDO:0014650 familial temporal lobe epilepsy 8 skos:exactMatch UMLS:C4225318 semapv:UnspecifiedMatching MONDO:0014651 acrofacial dysostosis Cincinnati type skos:exactMatch DOID:0060353 acrofacial dysostosis Cincinnati type semapv:UnspecifiedMatching MONDO:0014651 acrofacial dysostosis Cincinnati type skos:exactMatch MEDGEN:903483 semapv:UnspecifiedMatching MONDO:0014651 acrofacial dysostosis Cincinnati type skos:exactMatch OMIM:616462 acrofacial dysostosis, cincinnati type semapv:UnspecifiedMatching MONDO:0014651 acrofacial dysostosis Cincinnati type skos:exactMatch UMLS:C4225317 semapv:UnspecifiedMatching MONDO:0014652 exudative vitreoretinopathy 6 skos:exactMatch DOID:0111410 exudative vitreoretinopathy 6 semapv:UnspecifiedMatching MONDO:0014652 exudative vitreoretinopathy 6 skos:exactMatch MEDGEN:902559 semapv:UnspecifiedMatching MONDO:0014652 exudative vitreoretinopathy 6 skos:exactMatch OMIM:616468 exudative vitreoretinopathy 6 semapv:UnspecifiedMatching MONDO:0014652 exudative vitreoretinopathy 6 skos:exactMatch UMLS:C4225316 semapv:UnspecifiedMatching MONDO:0014653 retinitis pigmentosa 72 skos:exactMatch DOID:0110395 retinitis pigmentosa 72 semapv:UnspecifiedMatching MONDO:0014653 retinitis pigmentosa 72 skos:exactMatch MEDGEN:895867 semapv:UnspecifiedMatching MONDO:0014653 retinitis pigmentosa 72 skos:exactMatch OMIM:616469 retinitis pigmentosa 72 semapv:UnspecifiedMatching MONDO:0014653 retinitis pigmentosa 72 skos:exactMatch UMLS:C4225315 semapv:UnspecifiedMatching MONDO:0014654 Ullrich congenital muscular dystrophy 2 skos:exactMatch DOID:0060948 Ullrich congenital muscular dystrophy 2 semapv:UnspecifiedMatching MONDO:0014654 Ullrich congenital muscular dystrophy 2 skos:exactMatch MEDGEN:899150 semapv:UnspecifiedMatching MONDO:0014654 Ullrich congenital muscular dystrophy 2 skos:exactMatch OMIM:616470 ullrich congenital muscular dystrophy 2 semapv:UnspecifiedMatching MONDO:0014654 Ullrich congenital muscular dystrophy 2 skos:exactMatch UMLS:C4225314 semapv:UnspecifiedMatching MONDO:0014656 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 skos:exactMatch DOID:0111515 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2 semapv:UnspecifiedMatching MONDO:0014656 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 skos:exactMatch MEDGEN:901897 semapv:UnspecifiedMatching MONDO:0014656 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 skos:exactMatch OMIM:616479 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 semapv:UnspecifiedMatching MONDO:0014656 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 skos:exactMatch UMLS:C4225312 semapv:UnspecifiedMatching MONDO:0014657 primary ciliary dyskinesia 32 skos:exactMatch DOID:0110603 primary ciliary dyskinesia 32 semapv:UnspecifiedMatching MONDO:0014657 primary ciliary dyskinesia 32 skos:exactMatch MEDGEN:896106 semapv:UnspecifiedMatching MONDO:0014657 primary ciliary dyskinesia 32 skos:exactMatch OMIM:616481 ciliary dyskinesia, primary, 32 semapv:UnspecifiedMatching MONDO:0014657 primary ciliary dyskinesia 32 skos:exactMatch UMLS:C4225311 semapv:UnspecifiedMatching MONDO:0014658 severe achondroplasia-developmental delay-acanthosis nigricans syndrome skos:exactMatch DOID:0111158 SADDAN semapv:UnspecifiedMatching MONDO:0014658 severe achondroplasia-developmental delay-acanthosis nigricans syndrome skos:exactMatch MEDGEN:393098 semapv:UnspecifiedMatching MONDO:0014658 severe achondroplasia-developmental delay-acanthosis nigricans syndrome skos:exactMatch OMIM:616482 achondroplasia, severe, with developmental delay and acanthosis nigricans semapv:UnspecifiedMatching MONDO:0014658 severe achondroplasia-developmental delay-acanthosis nigricans syndrome skos:exactMatch Orphanet:85165 Severe achondroplasia-developmental delay-acanthosis nigricans syndrome semapv:UnspecifiedMatching MONDO:0014658 severe achondroplasia-developmental delay-acanthosis nigricans syndrome skos:exactMatch SCTID:699870002 semapv:UnspecifiedMatching MONDO:0014658 severe achondroplasia-developmental delay-acanthosis nigricans syndrome skos:exactMatch UMLS:C2674173 semapv:UnspecifiedMatching MONDO:0014659 infantile liver failure syndrome 2 skos:exactMatch MEDGEN:815981 semapv:UnspecifiedMatching MONDO:0014659 infantile liver failure syndrome 2 skos:exactMatch NCIT:C158135 Infantile Liver Failure Syndrome 2 semapv:UnspecifiedMatching MONDO:0014659 infantile liver failure syndrome 2 skos:exactMatch OMIM:616483 infantile liver failure syndrome 2 semapv:UnspecifiedMatching MONDO:0014659 infantile liver failure syndrome 2 skos:exactMatch UMLS:C3809651 semapv:UnspecifiedMatching MONDO:0014660 microcephaly 15, primary, autosomal recessive skos:exactMatch DOID:0070277 primary autosomal recessive microcephaly 15 semapv:UnspecifiedMatching MONDO:0014660 microcephaly 15, primary, autosomal recessive skos:exactMatch MEDGEN:895496 semapv:UnspecifiedMatching MONDO:0014660 microcephaly 15, primary, autosomal recessive skos:exactMatch OMIM:616486 neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities semapv:UnspecifiedMatching MONDO:0014660 microcephaly 15, primary, autosomal recessive skos:exactMatch UMLS:C4225310 semapv:UnspecifiedMatching MONDO:0014661 epidermolysis bullosa simplex with nail dystrophy skos:exactMatch MEDGEN:906476 semapv:UnspecifiedMatching MONDO:0014661 epidermolysis bullosa simplex with nail dystrophy skos:exactMatch OMIM:616487 epidermolysis bullosa simplex 5d, generalized intermediate, autosomal recessive semapv:UnspecifiedMatching MONDO:0014661 epidermolysis bullosa simplex with nail dystrophy skos:exactMatch UMLS:C4225309 semapv:UnspecifiedMatching MONDO:0014662 congenital insensitivity to pain-hypohidrosis syndrome skos:exactMatch DOID:0070153 hereditary sensory and autonomic neuropathy type 8 semapv:UnspecifiedMatching MONDO:0014662 congenital insensitivity to pain-hypohidrosis syndrome skos:exactMatch MEDGEN:894363 semapv:UnspecifiedMatching MONDO:0014662 congenital insensitivity to pain-hypohidrosis syndrome skos:exactMatch OMIM:616488 neuropathy, hereditary sensory and autonomic, type 8 semapv:UnspecifiedMatching MONDO:0014662 congenital insensitivity to pain-hypohidrosis syndrome skos:exactMatch Orphanet:478664 Hereditary sensory and autonomic neuropathy type 8 semapv:UnspecifiedMatching MONDO:0014662 congenital insensitivity to pain-hypohidrosis syndrome skos:exactMatch UMLS:C4225308 semapv:UnspecifiedMatching MONDO:0014663 Silver-Russell syndrome 3 skos:exactMatch MEDGEN:894912 semapv:UnspecifiedMatching MONDO:0014663 Silver-Russell syndrome 3 skos:exactMatch OMIM:616489 silver-russell syndrome 3 semapv:UnspecifiedMatching MONDO:0014663 Silver-Russell syndrome 3 skos:exactMatch UMLS:C4225307 semapv:UnspecifiedMatching MONDO:0014664 Joubert syndrome 23 skos:exactMatch DOID:0110992 Joubert syndrome 23 semapv:UnspecifiedMatching MONDO:0014664 Joubert syndrome 23 skos:exactMatch MEDGEN:900119 semapv:UnspecifiedMatching MONDO:0014664 Joubert syndrome 23 skos:exactMatch OMIM:616490 joubert syndrome 23 semapv:UnspecifiedMatching MONDO:0014664 Joubert syndrome 23 skos:exactMatch UMLS:C4084822 semapv:UnspecifiedMatching MONDO:0014665 Charcot-Marie-Tooth disease axonal type 2V skos:exactMatch DOID:0110178 Charcot-Marie-Tooth disease axonal type 2V semapv:UnspecifiedMatching MONDO:0014665 Charcot-Marie-Tooth disease axonal type 2V skos:exactMatch MEDGEN:1800473 semapv:UnspecifiedMatching MONDO:0014665 Charcot-Marie-Tooth disease axonal type 2V skos:exactMatch OMIM:616491 charcot-marie-tooth disease, axonal, type 2v semapv:UnspecifiedMatching MONDO:0014665 Charcot-Marie-Tooth disease axonal type 2V skos:exactMatch Orphanet:447964 Autosomal dominant Charcot-Marie-Tooth disease type 2V semapv:UnspecifiedMatching MONDO:0014665 Charcot-Marie-Tooth disease axonal type 2V skos:exactMatch UMLS:C5569050 semapv:UnspecifiedMatching MONDO:0014666 hypomyelinating leukodystrophy 11 skos:exactMatch DOID:0060792 hypomyelinating leukodystrophy 11 semapv:UnspecifiedMatching MONDO:0014666 hypomyelinating leukodystrophy 11 skos:exactMatch MEDGEN:897960 semapv:UnspecifiedMatching MONDO:0014666 hypomyelinating leukodystrophy 11 skos:exactMatch OMIM:616494 leukodystrophy, hypomyelinating, 11 semapv:UnspecifiedMatching MONDO:0014666 hypomyelinating leukodystrophy 11 skos:exactMatch UMLS:C4225305 semapv:UnspecifiedMatching MONDO:0014667 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 skos:exactMatch DOID:0080359 mitochondrial complex IV deficiency nuclear type 9 semapv:UnspecifiedMatching MONDO:0014667 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 skos:exactMatch MEDGEN:903495 semapv:UnspecifiedMatching MONDO:0014667 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 skos:exactMatch OMIM:616500 mitochondrial complex 4 deficiency, nuclear type 9 semapv:UnspecifiedMatching MONDO:0014667 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 skos:exactMatch UMLS:C4225154 semapv:UnspecifiedMatching MONDO:0014668 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 skos:exactMatch DOID:0080360 mitochondrial complex IV deficiency nuclear type 13 semapv:UnspecifiedMatching MONDO:0014668 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 skos:exactMatch MEDGEN:905398 semapv:UnspecifiedMatching MONDO:0014668 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 skos:exactMatch OMIM:616501 mitochondrial complex 4 deficiency, nuclear type 13 semapv:UnspecifiedMatching MONDO:0014668 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 skos:exactMatch UMLS:C4225304 semapv:UnspecifiedMatching MONDO:0014669 cone-rod dystrophy 21 skos:exactMatch DOID:0081447 cone-rod dystrophy 21 semapv:UnspecifiedMatching MONDO:0014669 cone-rod dystrophy 21 skos:exactMatch MEDGEN:891534 semapv:UnspecifiedMatching MONDO:0014669 cone-rod dystrophy 21 skos:exactMatch OMIM:616502 cone-rod dystrophy 21 semapv:UnspecifiedMatching MONDO:0014669 cone-rod dystrophy 21 skos:exactMatch UMLS:C4049066 semapv:UnspecifiedMatching MONDO:0014670 lethal congenital contracture syndrome 9 skos:exactMatch MEDGEN:903881 semapv:UnspecifiedMatching MONDO:0014670 lethal congenital contracture syndrome 9 skos:exactMatch OMIM:616503 lethal congenital contracture syndrome 9 semapv:UnspecifiedMatching MONDO:0014670 lethal congenital contracture syndrome 9 skos:exactMatch UMLS:C4225303 semapv:UnspecifiedMatching MONDO:0014671 neuropathy, hereditary motor and sensory, type 6B skos:exactMatch MEDGEN:895482 semapv:UnspecifiedMatching MONDO:0014671 neuropathy, hereditary motor and sensory, type 6B skos:exactMatch OMIM:616505 neuropathy, hereditary motor and sensory, type vib, with optic atrophy semapv:UnspecifiedMatching MONDO:0014671 neuropathy, hereditary motor and sensory, type 6B skos:exactMatch UMLS:C4225302 semapv:UnspecifiedMatching MONDO:0014672 osteogenesis imperfecta type 17 skos:exactMatch DOID:0110338 osteogenesis imperfecta type 17 semapv:UnspecifiedMatching MONDO:0014672 osteogenesis imperfecta type 17 skos:exactMatch MEDGEN:903845 semapv:UnspecifiedMatching MONDO:0014672 osteogenesis imperfecta type 17 skos:exactMatch OMIM:616507 osteogenesis imperfecta, type 17 semapv:UnspecifiedMatching MONDO:0014672 osteogenesis imperfecta type 17 skos:exactMatch UMLS:C4225301 semapv:UnspecifiedMatching MONDO:0014673 cataract 44 skos:exactMatch DOID:0110267 cataract 44 semapv:UnspecifiedMatching MONDO:0014673 cataract 44 skos:exactMatch MEDGEN:907487 semapv:UnspecifiedMatching MONDO:0014673 cataract 44 skos:exactMatch OMIM:616509 cataract 44 semapv:UnspecifiedMatching MONDO:0014673 cataract 44 skos:exactMatch UMLS:C4225300 semapv:UnspecifiedMatching MONDO:0014674 maturity-onset diabetes of the young type 14 skos:exactMatch DOID:0111111 maturity-onset diabetes of the young type 14 semapv:UnspecifiedMatching MONDO:0014674 maturity-onset diabetes of the young type 14 skos:exactMatch MEDGEN:908119 semapv:UnspecifiedMatching MONDO:0014674 maturity-onset diabetes of the young type 14 skos:exactMatch OMIM:616511 maturity-onset diabetes of the young, type 14 semapv:UnspecifiedMatching MONDO:0014674 maturity-onset diabetes of the young type 14 skos:exactMatch UMLS:C4225299 semapv:UnspecifiedMatching MONDO:0014675 autosomal recessive nonsyndromic hearing loss 104 skos:exactMatch DOID:0110465 autosomal recessive nonsyndromic deafness 104 semapv:UnspecifiedMatching MONDO:0014675 autosomal recessive nonsyndromic hearing loss 104 skos:exactMatch MEDGEN:899775 semapv:UnspecifiedMatching MONDO:0014675 autosomal recessive nonsyndromic hearing loss 104 skos:exactMatch OMIM:616515 deafness, autosomal recessive 104 semapv:UnspecifiedMatching MONDO:0014675 autosomal recessive nonsyndromic hearing loss 104 skos:exactMatch UMLS:C4225298 semapv:UnspecifiedMatching MONDO:0014676 Emery-Dreifuss muscular dystrophy 3, autosomal recessive skos:exactMatch DOID:0070248 autosomal recessive Emery-Dreifuss muscular dystrophy 3 semapv:UnspecifiedMatching MONDO:0014676 Emery-Dreifuss muscular dystrophy 3, autosomal recessive skos:exactMatch MEDGEN:413212 semapv:UnspecifiedMatching MONDO:0014676 Emery-Dreifuss muscular dystrophy 3, autosomal recessive skos:exactMatch OMIM:616516 emery-dreifuss muscular dystrophy 3, autosomal recessive semapv:UnspecifiedMatching MONDO:0014676 Emery-Dreifuss muscular dystrophy 3, autosomal recessive skos:exactMatch Orphanet:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy semapv:UnspecifiedMatching MONDO:0014676 Emery-Dreifuss muscular dystrophy 3, autosomal recessive skos:exactMatch UMLS:C2750035 semapv:UnspecifiedMatching MONDO:0014676 Emery-Dreifuss muscular dystrophy 3, autosomal recessive skos:exactMatch mesh:C567633 semapv:UnspecifiedMatching MONDO:0014677 achromatopsia 7 skos:exactMatch DOID:0110009 achromatopsia 7 semapv:UnspecifiedMatching MONDO:0014677 achromatopsia 7 skos:exactMatch MEDGEN:904646 semapv:UnspecifiedMatching MONDO:0014677 achromatopsia 7 skos:exactMatch OMIM:616517 achromatopsia 7 semapv:UnspecifiedMatching MONDO:0014677 achromatopsia 7 skos:exactMatch UMLS:C4225297 semapv:UnspecifiedMatching MONDO:0014678 intellectual disability, autosomal dominant 39 skos:exactMatch DOID:0070069 autosomal dominant intellectual developmental disorder 39 semapv:UnspecifiedMatching MONDO:0014678 intellectual disability, autosomal dominant 39 skos:exactMatch MEDGEN:909304 semapv:UnspecifiedMatching MONDO:0014678 intellectual disability, autosomal dominant 39 skos:exactMatch OMIM:616521 intellectual developmental disorder, autosomal dominant 39 semapv:UnspecifiedMatching MONDO:0014678 intellectual disability, autosomal dominant 39 skos:exactMatch UMLS:C4225296 semapv:UnspecifiedMatching MONDO:0014679 polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis skos:exactMatch MEDGEN:899982 semapv:UnspecifiedMatching MONDO:0014679 polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis skos:exactMatch OMIM:616531 neurodevelopmental disorder with spasticity, hypomyelinating leukodystrophy, and brain abnormalities semapv:UnspecifiedMatching MONDO:0014679 polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis skos:exactMatch UMLS:C4225295 semapv:UnspecifiedMatching MONDO:0014680 herpes simplex encephalitis, susceptibility to, 7 skos:exactMatch MEDGEN:901850 semapv:UnspecifiedMatching MONDO:0014680 herpes simplex encephalitis, susceptibility to, 7 skos:exactMatch OMIM:616532 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7 semapv:UnspecifiedMatching MONDO:0014680 herpes simplex encephalitis, susceptibility to, 7 skos:exactMatch UMLS:C4225294 semapv:UnspecifiedMatching MONDO:0014681 thyroid cancer, nonmedullary, 4 skos:exactMatch MEDGEN:907624 semapv:UnspecifiedMatching MONDO:0014681 thyroid cancer, nonmedullary, 4 skos:exactMatch OMIM:616534 thyroid cancer, nonmedullary, 4 semapv:UnspecifiedMatching MONDO:0014681 thyroid cancer, nonmedullary, 4 skos:exactMatch UMLS:C4225293 semapv:UnspecifiedMatching MONDO:0014682 thyroid cancer, nonmedullary, 5 skos:exactMatch MEDGEN:895900 semapv:UnspecifiedMatching MONDO:0014682 thyroid cancer, nonmedullary, 5 skos:exactMatch OMIM:616535 thyroid cancer, nonmedullary, 5 semapv:UnspecifiedMatching MONDO:0014682 thyroid cancer, nonmedullary, 5 skos:exactMatch UMLS:C4225292 semapv:UnspecifiedMatching MONDO:0014683 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 skos:exactMatch DOID:0111232 congenital muscular dystrophy-dystroglycanopathy type A9 semapv:UnspecifiedMatching MONDO:0014683 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 skos:exactMatch MEDGEN:902513 semapv:UnspecifiedMatching MONDO:0014683 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 skos:exactMatch OMIM:616538 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9 semapv:UnspecifiedMatching MONDO:0014683 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 skos:exactMatch UMLS:C4225291 semapv:UnspecifiedMatching MONDO:0014684 combined oxidative phosphorylation defect type 26 skos:exactMatch DOID:0111490 combined oxidative phosphorylation deficiency 26 semapv:UnspecifiedMatching MONDO:0014684 combined oxidative phosphorylation defect type 26 skos:exactMatch MEDGEN:1799164 semapv:UnspecifiedMatching MONDO:0014684 combined oxidative phosphorylation defect type 26 skos:exactMatch OMIM:616539 peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay semapv:UnspecifiedMatching MONDO:0014684 combined oxidative phosphorylation defect type 26 skos:exactMatch Orphanet:477684 Combined oxidative phosphorylation defect type 26 semapv:UnspecifiedMatching MONDO:0014684 combined oxidative phosphorylation defect type 26 skos:exactMatch UMLS:C5567741 semapv:UnspecifiedMatching MONDO:0014685 progressive myoclonic epilepsy type 9 skos:exactMatch DOID:0111450 progressive myoclonus epilepsy 9 semapv:UnspecifiedMatching MONDO:0014685 progressive myoclonic epilepsy type 9 skos:exactMatch MEDGEN:901242 semapv:UnspecifiedMatching MONDO:0014685 progressive myoclonic epilepsy type 9 skos:exactMatch OMIM:616540 epilepsy, progressive myoclonic, 9 semapv:UnspecifiedMatching MONDO:0014685 progressive myoclonic epilepsy type 9 skos:exactMatch Orphanet:457265 Progressive myoclonic epilepsy type 9 semapv:UnspecifiedMatching MONDO:0014685 progressive myoclonic epilepsy type 9 skos:exactMatch UMLS:C4225289 semapv:UnspecifiedMatching MONDO:0014686 short stature, microcephaly, and endocrine dysfunction skos:exactMatch MEDGEN:895448 semapv:UnspecifiedMatching MONDO:0014686 short stature, microcephaly, and endocrine dysfunction skos:exactMatch OMIM:616541 short stature, microcephaly, and endocrine dysfunction semapv:UnspecifiedMatching MONDO:0014686 short stature, microcephaly, and endocrine dysfunction skos:exactMatch UMLS:C4225288 semapv:UnspecifiedMatching MONDO:0014687 retinitis pigmentosa 73 skos:exactMatch DOID:0110389 retinitis pigmentosa 73 semapv:UnspecifiedMatching MONDO:0014687 retinitis pigmentosa 73 skos:exactMatch MEDGEN:907690 semapv:UnspecifiedMatching MONDO:0014687 retinitis pigmentosa 73 skos:exactMatch OMIM:616544 retinitis pigmentosa 73 semapv:UnspecifiedMatching MONDO:0014687 retinitis pigmentosa 73 skos:exactMatch UMLS:C4225287 semapv:UnspecifiedMatching MONDO:0014688 short-rib thoracic dysplasia 14 with polydactyly skos:exactMatch DOID:0110096 short-rib thoracic dysplasia 14 with polydactyly semapv:UnspecifiedMatching MONDO:0014688 short-rib thoracic dysplasia 14 with polydactyly skos:exactMatch MEDGEN:901479 semapv:UnspecifiedMatching MONDO:0014688 short-rib thoracic dysplasia 14 with polydactyly skos:exactMatch OMIM:616546 short-rib thoracic dysplasia 14 with polydactyly semapv:UnspecifiedMatching MONDO:0014688 short-rib thoracic dysplasia 14 with polydactyly skos:exactMatch UMLS:C4225286 semapv:UnspecifiedMatching MONDO:0014689 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome skos:exactMatch DOID:0080592 Klippel-Feil syndrome 4 semapv:UnspecifiedMatching MONDO:0014689 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome skos:exactMatch MEDGEN:894399 semapv:UnspecifiedMatching MONDO:0014689 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome skos:exactMatch OMIM:616549 klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism semapv:UnspecifiedMatching MONDO:0014689 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome skos:exactMatch Orphanet:447974 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome semapv:UnspecifiedMatching MONDO:0014689 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome skos:exactMatch UMLS:C4225285 semapv:UnspecifiedMatching MONDO:0014690 dyskeratosis congenita, autosomal dominant 6 skos:exactMatch DOID:0070023 autosomal dominant dyskeratosis congenita 6 semapv:UnspecifiedMatching MONDO:0014690 dyskeratosis congenita, autosomal dominant 6 skos:exactMatch MEDGEN:904824 semapv:UnspecifiedMatching MONDO:0014690 dyskeratosis congenita, autosomal dominant 6 skos:exactMatch NCIT:C176924 Dyskeratosis Congenita, Autosomal Dominant 6 semapv:UnspecifiedMatching MONDO:0014690 dyskeratosis congenita, autosomal dominant 6 skos:exactMatch OMIM:616553 dyskeratosis congenita, autosomal dominant 6 semapv:UnspecifiedMatching MONDO:0014690 dyskeratosis congenita, autosomal dominant 6 skos:exactMatch UMLS:C4225284 semapv:UnspecifiedMatching MONDO:0014691 Noonan syndrome 9 skos:exactMatch DOID:0060587 Noonan syndrome 9 semapv:UnspecifiedMatching MONDO:0014691 Noonan syndrome 9 skos:exactMatch MEDGEN:896352 semapv:UnspecifiedMatching MONDO:0014691 Noonan syndrome 9 skos:exactMatch NCIT:C176937 Noonan Syndrome 9 semapv:UnspecifiedMatching MONDO:0014691 Noonan syndrome 9 skos:exactMatch OMIM:616559 noonan syndrome 9 semapv:UnspecifiedMatching MONDO:0014691 Noonan syndrome 9 skos:exactMatch UMLS:C4225282 semapv:UnspecifiedMatching MONDO:0014692 retinitis pigmentosa 74 skos:exactMatch DOID:0110401 retinitis pigmentosa 74 semapv:UnspecifiedMatching MONDO:0014692 retinitis pigmentosa 74 skos:exactMatch MEDGEN:906896 semapv:UnspecifiedMatching MONDO:0014692 retinitis pigmentosa 74 skos:exactMatch OMIM:616562 retinitis pigmentosa 74 semapv:UnspecifiedMatching MONDO:0014692 retinitis pigmentosa 74 skos:exactMatch UMLS:C4225281 semapv:UnspecifiedMatching MONDO:0014693 Noonan syndrome 10 skos:exactMatch DOID:0060588 Noonan syndrome 10 semapv:UnspecifiedMatching MONDO:0014693 Noonan syndrome 10 skos:exactMatch MEDGEN:902892 semapv:UnspecifiedMatching MONDO:0014693 Noonan syndrome 10 skos:exactMatch NCIT:C176938 Noonan Syndrome 10 semapv:UnspecifiedMatching MONDO:0014693 Noonan syndrome 10 skos:exactMatch OMIM:616564 noonan syndrome 10 semapv:UnspecifiedMatching MONDO:0014693 Noonan syndrome 10 skos:exactMatch UMLS:C4225280 semapv:UnspecifiedMatching MONDO:0014694 spondylocostal dysostosis 6, autosomal recessive skos:exactMatch DOID:0112360 spondylocostal dysostosis 6 semapv:UnspecifiedMatching MONDO:0014694 spondylocostal dysostosis 6, autosomal recessive skos:exactMatch MEDGEN:899713 semapv:UnspecifiedMatching MONDO:0014694 spondylocostal dysostosis 6, autosomal recessive skos:exactMatch OMIM:616566 spondylocostal dysostosis 6, autosomal recessive semapv:UnspecifiedMatching MONDO:0014694 spondylocostal dysostosis 6, autosomal recessive skos:exactMatch UMLS:C4225279 semapv:UnspecifiedMatching MONDO:0014696 cerebrooculofacioskeletal syndrome 3 skos:exactMatch DOID:0080913 cerebrooculofacioskeletal syndrome 3 semapv:UnspecifiedMatching MONDO:0014696 cerebrooculofacioskeletal syndrome 3 skos:exactMatch MEDGEN:342008 semapv:UnspecifiedMatching MONDO:0014696 cerebrooculofacioskeletal syndrome 3 skos:exactMatch OMIM:616570 cerebrooculofacioskeletal syndrome 3 semapv:UnspecifiedMatching MONDO:0014696 cerebrooculofacioskeletal syndrome 3 skos:exactMatch UMLS:C1851443 semapv:UnspecifiedMatching MONDO:0014696 cerebrooculofacioskeletal syndrome 3 skos:exactMatch mesh:C565035 semapv:UnspecifiedMatching MONDO:0014697 immunodeficiency, common variable, 12 skos:exactMatch DOID:0081154 common variable immunodeficiency 12 semapv:UnspecifiedMatching MONDO:0014697 immunodeficiency, common variable, 12 skos:exactMatch MEDGEN:906018 semapv:UnspecifiedMatching MONDO:0014697 immunodeficiency, common variable, 12 skos:exactMatch OMIM:616576 immunodeficiency, common variable, 12, with autoimmunity semapv:UnspecifiedMatching MONDO:0014697 immunodeficiency, common variable, 12 skos:exactMatch Orphanet:696874 NFKB1-related immune dysregulation semapv:UnspecifiedMatching MONDO:0014697 immunodeficiency, common variable, 12 skos:exactMatch UMLS:C4225277 semapv:UnspecifiedMatching MONDO:0014698 microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome skos:exactMatch MEDGEN:895574 semapv:UnspecifiedMatching MONDO:0014698 microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome skos:exactMatch OMIM:616577 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities semapv:UnspecifiedMatching MONDO:0014698 microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome skos:exactMatch Orphanet:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome semapv:UnspecifiedMatching MONDO:0014698 microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome skos:exactMatch UMLS:C4225276 semapv:UnspecifiedMatching MONDO:0014699 intellectual disability, autosomal dominant 40 skos:exactMatch DOID:0070070 autosomal dominant intellectual developmental disorder 40 semapv:UnspecifiedMatching MONDO:0014699 intellectual disability, autosomal dominant 40 skos:exactMatch MEDGEN:1810363 semapv:UnspecifiedMatching MONDO:0014699 intellectual disability, autosomal dominant 40 skos:exactMatch OMIM:616579 neurodevelopmental disorder with hypotonia, impaired language, and dysmorphic features semapv:UnspecifiedMatching MONDO:0014699 intellectual disability, autosomal dominant 40 skos:exactMatch Orphanet:692193 CHAMP1-related intellectual disability-facial dysmorphism-behavioral abnormalities syndrome semapv:UnspecifiedMatching MONDO:0014699 intellectual disability, autosomal dominant 40 skos:exactMatch UMLS:C5676894 semapv:UnspecifiedMatching MONDO:0014700 Au-Kline syndrome skos:exactMatch MEDGEN:900671 semapv:UnspecifiedMatching MONDO:0014700 Au-Kline syndrome skos:exactMatch OMIM:616580 au-kline syndrome semapv:UnspecifiedMatching MONDO:0014700 Au-Kline syndrome skos:exactMatch Orphanet:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation semapv:UnspecifiedMatching MONDO:0014700 Au-Kline syndrome skos:exactMatch SCTID:722065002 semapv:UnspecifiedMatching MONDO:0014700 Au-Kline syndrome skos:exactMatch UMLS:C4225274 semapv:UnspecifiedMatching MONDO:0014700 Au-Kline syndrome skos:exactMatch mesh:C565736 semapv:UnspecifiedMatching MONDO:0014701 spondyloepiphyseal dysplasia, Stanescu type skos:exactMatch DOID:0112281 spondyloepiphyseal dysplasia Stanescu type semapv:UnspecifiedMatching MONDO:0014701 spondyloepiphyseal dysplasia, Stanescu type skos:exactMatch MEDGEN:905084 semapv:UnspecifiedMatching MONDO:0014701 spondyloepiphyseal dysplasia, Stanescu type skos:exactMatch OMIM:616583 spondyloepiphyseal dysplasia, stanescu type semapv:UnspecifiedMatching MONDO:0014701 spondyloepiphyseal dysplasia, Stanescu type skos:exactMatch Orphanet:459051 Spondyloepiphyseal dysplasia, Stanescu type semapv:UnspecifiedMatching MONDO:0014701 spondyloepiphyseal dysplasia, Stanescu type skos:exactMatch UMLS:C4225273 semapv:UnspecifiedMatching MONDO:0014702 autosomal recessive complex spastic paraplegia type 9B skos:exactMatch DOID:0110825 hereditary spastic paraplegia 9B semapv:UnspecifiedMatching MONDO:0014702 autosomal recessive complex spastic paraplegia type 9B skos:exactMatch MEDGEN:1800403 semapv:UnspecifiedMatching MONDO:0014702 autosomal recessive complex spastic paraplegia type 9B skos:exactMatch OMIM:616586 spastic paraplegia 9b, autosomal recessive semapv:UnspecifiedMatching MONDO:0014702 autosomal recessive complex spastic paraplegia type 9B skos:exactMatch Orphanet:447760 Autosomal recessive spastic paraplegia type 9B semapv:UnspecifiedMatching MONDO:0014702 autosomal recessive complex spastic paraplegia type 9B skos:exactMatch UMLS:C5568980 semapv:UnspecifiedMatching MONDO:0014703 Adams-Oliver syndrome 6 skos:exactMatch MEDGEN:908556 semapv:UnspecifiedMatching MONDO:0014703 Adams-Oliver syndrome 6 skos:exactMatch OMIM:616589 adams-oliver syndrome 6 semapv:UnspecifiedMatching MONDO:0014703 Adams-Oliver syndrome 6 skos:exactMatch UMLS:C4225271 semapv:UnspecifiedMatching MONDO:0014704 skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome skos:exactMatch MEDGEN:896409 semapv:UnspecifiedMatching MONDO:0014704 skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome skos:exactMatch OMIM:616592 kosaki overgrowth syndrome semapv:UnspecifiedMatching MONDO:0014704 skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome skos:exactMatch Orphanet:477831 Kosaki overgrowth syndrome semapv:UnspecifiedMatching MONDO:0014704 skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome skos:exactMatch UMLS:C4225270 semapv:UnspecifiedMatching MONDO:0014705 craniosynostosis 6 skos:exactMatch DOID:0061008 craniosynostosis 6 semapv:UnspecifiedMatching MONDO:0014705 craniosynostosis 6 skos:exactMatch MEDGEN:904675 semapv:UnspecifiedMatching MONDO:0014705 craniosynostosis 6 skos:exactMatch OMIM:616602 craniosynostosis 6 semapv:UnspecifiedMatching MONDO:0014705 craniosynostosis 6 skos:exactMatch Orphanet:672985 Craniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndrome semapv:UnspecifiedMatching MONDO:0014705 craniosynostosis 6 skos:exactMatch UMLS:C4225269 semapv:UnspecifiedMatching MONDO:0014706 cutis laxa, autosomal dominant 3 skos:exactMatch DOID:0070131 autosomal dominant cutis laxa 3 semapv:UnspecifiedMatching MONDO:0014706 cutis laxa, autosomal dominant 3 skos:exactMatch MEDGEN:899774 semapv:UnspecifiedMatching MONDO:0014706 cutis laxa, autosomal dominant 3 skos:exactMatch OMIM:616603 cutis laxa, autosomal dominant 3 semapv:UnspecifiedMatching MONDO:0014706 cutis laxa, autosomal dominant 3 skos:exactMatch UMLS:C4225268 semapv:UnspecifiedMatching MONDO:0014707 14q32 duplication syndrome skos:exactMatch MEDGEN:896239 semapv:UnspecifiedMatching MONDO:0014707 14q32 duplication syndrome skos:exactMatch OMIM:616604 chromosome 14q32 duplication syndrome, 700-kb semapv:UnspecifiedMatching MONDO:0014707 14q32 duplication syndrome skos:exactMatch Orphanet:488280 14q32 duplication syndrome semapv:UnspecifiedMatching MONDO:0014707 14q32 duplication syndrome skos:exactMatch UMLS:C4225449 semapv:UnspecifiedMatching MONDO:0014708 ring chromosome 14 skos:exactMatch DOID:0070621 ring chromosome 14 syndrome semapv:UnspecifiedMatching MONDO:0014708 ring chromosome 14 skos:exactMatch MEDGEN:419284 semapv:UnspecifiedMatching MONDO:0014708 ring chromosome 14 skos:exactMatch OMIM:616606 ring chromosome 14 syndrome semapv:UnspecifiedMatching MONDO:0014708 ring chromosome 14 skos:exactMatch Orphanet:1440 Ring chromosome 14 syndrome semapv:UnspecifiedMatching MONDO:0014708 ring chromosome 14 skos:exactMatch SCTID:702345009 semapv:UnspecifiedMatching MONDO:0014708 ring chromosome 14 skos:exactMatch UMLS:C2930916 semapv:UnspecifiedMatching MONDO:0014708 ring chromosome 14 skos:exactMatch mesh:C535487 semapv:UnspecifiedMatching MONDO:0014709 obsolete Heimler syndrome 2 skos:exactMatch DOID:0080624 Heimler syndrome 2 semapv:UnspecifiedMatching MONDO:0014710 autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency skos:exactMatch DOID:0111940 immunodeficiency 42 semapv:UnspecifiedMatching MONDO:0014710 autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency skos:exactMatch MEDGEN:1799070 semapv:UnspecifiedMatching MONDO:0014710 autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency skos:exactMatch OMIM:616622 immunodeficiency 42 semapv:UnspecifiedMatching MONDO:0014710 autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency skos:exactMatch Orphanet:477857 Mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency semapv:UnspecifiedMatching MONDO:0014710 autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency skos:exactMatch UMLS:C5567647 semapv:UnspecifiedMatching MONDO:0014711 autosomal dominant Charcot-Marie-Tooth disease type 2W skos:exactMatch DOID:0110162 Charcot-Marie-Tooth disease, axonal type 2W semapv:UnspecifiedMatching MONDO:0014711 autosomal dominant Charcot-Marie-Tooth disease type 2W skos:exactMatch MEDGEN:1798909 semapv:UnspecifiedMatching MONDO:0014711 autosomal dominant Charcot-Marie-Tooth disease type 2W skos:exactMatch OMIM:616625 charcot-marie-tooth disease, axonal, type 2w semapv:UnspecifiedMatching MONDO:0014711 autosomal dominant Charcot-Marie-Tooth disease type 2W skos:exactMatch Orphanet:488333 Autosomal dominant Charcot-Marie-Tooth disease type 2W semapv:UnspecifiedMatching MONDO:0014711 autosomal dominant Charcot-Marie-Tooth disease type 2W skos:exactMatch UMLS:C5567486 semapv:UnspecifiedMatching MONDO:0014712 Senior-Loken syndrome 9 skos:exactMatch MEDGEN:899086 semapv:UnspecifiedMatching MONDO:0014712 Senior-Loken syndrome 9 skos:exactMatch OMIM:616629 senior-loken syndrome 9 semapv:UnspecifiedMatching MONDO:0014712 Senior-Loken syndrome 9 skos:exactMatch UMLS:C4225263 semapv:UnspecifiedMatching MONDO:0014713 porokeratosis 9, multiple types skos:exactMatch MEDGEN:894586 semapv:UnspecifiedMatching MONDO:0014713 porokeratosis 9, multiple types skos:exactMatch OMIM:616631 porokeratosis 9, multiple types semapv:UnspecifiedMatching MONDO:0014713 porokeratosis 9, multiple types skos:exactMatch UMLS:C4225262 semapv:UnspecifiedMatching MONDO:0014714 progressive microcephaly-seizures-cortical blindness-developmental delay syndrome skos:exactMatch MEDGEN:1799073 semapv:UnspecifiedMatching MONDO:0014714 progressive microcephaly-seizures-cortical blindness-developmental delay syndrome skos:exactMatch OMIM:616632 seizures, cortical blindness, and microcephaly syndrome semapv:UnspecifiedMatching MONDO:0014714 progressive microcephaly-seizures-cortical blindness-developmental delay syndrome skos:exactMatch Orphanet:477814 Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome semapv:UnspecifiedMatching MONDO:0014714 progressive microcephaly-seizures-cortical blindness-developmental delay syndrome skos:exactMatch UMLS:C5567650 semapv:UnspecifiedMatching MONDO:0014715 primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection skos:exactMatch DOID:0111975 immunodeficiency 44 semapv:UnspecifiedMatching MONDO:0014715 primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection skos:exactMatch MEDGEN:904009 semapv:UnspecifiedMatching MONDO:0014715 primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection skos:exactMatch OMIM:616636 immunodeficiency 44 semapv:UnspecifiedMatching MONDO:0014715 primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection skos:exactMatch Orphanet:431166 Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection semapv:UnspecifiedMatching MONDO:0014715 primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection skos:exactMatch UMLS:C4225260 semapv:UnspecifiedMatching MONDO:0014716 macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome skos:exactMatch MEDGEN:899689 semapv:UnspecifiedMatching MONDO:0014716 macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome skos:exactMatch OMIM:616638 smith-kingsmore syndrome semapv:UnspecifiedMatching MONDO:0014716 macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome skos:exactMatch Orphanet:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome semapv:UnspecifiedMatching MONDO:0014716 macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome skos:exactMatch UMLS:C4225259 semapv:UnspecifiedMatching MONDO:0014717 early-onset Lafora body disease skos:exactMatch DOID:0111445 progressive myoclonus epilepsy 10 semapv:UnspecifiedMatching MONDO:0014717 early-onset Lafora body disease skos:exactMatch MEDGEN:907932 semapv:UnspecifiedMatching MONDO:0014717 early-onset Lafora body disease skos:exactMatch OMIM:616640 epilepsy, progressive myoclonic, 10 semapv:UnspecifiedMatching MONDO:0014717 early-onset Lafora body disease skos:exactMatch Orphanet:324290 PRDM8-related progressive myoclonus epilepsy semapv:UnspecifiedMatching MONDO:0014717 early-onset Lafora body disease skos:exactMatch SCTID:733082001 semapv:UnspecifiedMatching MONDO:0014717 early-onset Lafora body disease skos:exactMatch UMLS:C4225258 semapv:UnspecifiedMatching MONDO:0014718 developmental and epileptic encephalopathy, 34 skos:exactMatch DOID:0080460 developmental and epileptic encephalopathy 34 semapv:UnspecifiedMatching MONDO:0014718 developmental and epileptic encephalopathy, 34 skos:exactMatch MEDGEN:899149 semapv:UnspecifiedMatching MONDO:0014718 developmental and epileptic encephalopathy, 34 skos:exactMatch OMIM:616645 developmental and epileptic encephalopathy 34 semapv:UnspecifiedMatching MONDO:0014718 developmental and epileptic encephalopathy, 34 skos:exactMatch UMLS:C4225257 semapv:UnspecifiedMatching MONDO:0014719 developmental and epileptic encephalopathy, 35 skos:exactMatch DOID:0080458 developmental and epileptic encephalopathy 35 semapv:UnspecifiedMatching MONDO:0014719 developmental and epileptic encephalopathy, 35 skos:exactMatch MEDGEN:904159 semapv:UnspecifiedMatching MONDO:0014719 developmental and epileptic encephalopathy, 35 skos:exactMatch OMIM:616647 developmental and epileptic encephalopathy 35 semapv:UnspecifiedMatching MONDO:0014719 developmental and epileptic encephalopathy, 35 skos:exactMatch Orphanet:457375 ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement semapv:UnspecifiedMatching MONDO:0014719 developmental and epileptic encephalopathy, 35 skos:exactMatch UMLS:C4225256 semapv:UnspecifiedMatching MONDO:0014720 autosomal dominant optic atrophy plus syndrome skos:exactMatch DOID:0111340 dominant optic atrophy plus syndrome semapv:UnspecifiedMatching MONDO:0014720 autosomal dominant optic atrophy plus syndrome skos:exactMatch Orphanet:1215 Autosomal dominant optic atrophy plus syndrome semapv:UnspecifiedMatching MONDO:0014720 autosomal dominant optic atrophy plus syndrome skos:exactMatch SCTID:715374003 semapv:UnspecifiedMatching MONDO:0014720 autosomal dominant optic atrophy plus syndrome skos:exactMatch icd11.foundation:1149710475 Autosomal dominant optic atrophy plus syndrome semapv:UnspecifiedMatching MONDO:0014722 Roifman syndrome skos:exactMatch MEDGEN:375801 semapv:UnspecifiedMatching MONDO:0014722 Roifman syndrome skos:exactMatch OMIM:616651 roifman syndrome semapv:UnspecifiedMatching MONDO:0014722 Roifman syndrome skos:exactMatch Orphanet:353298 Roifman syndrome semapv:UnspecifiedMatching MONDO:0014722 Roifman syndrome skos:exactMatch UMLS:C1846059 semapv:UnspecifiedMatching MONDO:0014722 Roifman syndrome skos:exactMatch mesh:C535866 semapv:UnspecifiedMatching MONDO:0014723 PMP22-RAI1 contiguous gene duplication syndrome skos:exactMatch MEDGEN:894862 semapv:UnspecifiedMatching MONDO:0014723 PMP22-RAI1 contiguous gene duplication syndrome skos:exactMatch OMIM:616652 yuan-harel-lupski syndrome semapv:UnspecifiedMatching MONDO:0014723 PMP22-RAI1 contiguous gene duplication syndrome skos:exactMatch Orphanet:477817 PMP22-RAI1 contiguous gene duplication syndrome semapv:UnspecifiedMatching MONDO:0014723 PMP22-RAI1 contiguous gene duplication syndrome skos:exactMatch UMLS:C4225255 semapv:UnspecifiedMatching MONDO:0014724 Joubert syndrome 24 skos:exactMatch DOID:0110993 Joubert syndrome 24 semapv:UnspecifiedMatching MONDO:0014724 Joubert syndrome 24 skos:exactMatch MEDGEN:905319 semapv:UnspecifiedMatching MONDO:0014724 Joubert syndrome 24 skos:exactMatch OMIM:616654 joubert syndrome 24 semapv:UnspecifiedMatching MONDO:0014724 Joubert syndrome 24 skos:exactMatch UMLS:C4084841 semapv:UnspecifiedMatching MONDO:0014725 spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome skos:exactMatch DOID:0070537 spastic tetraplegia, thin corpus callosum, and progressive microcephaly semapv:UnspecifiedMatching MONDO:0014725 spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome skos:exactMatch MEDGEN:900192 semapv:UnspecifiedMatching MONDO:0014725 spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome skos:exactMatch OMIM:616657 spastic tetraplegia, thin corpus callosum, and progressive microcephaly semapv:UnspecifiedMatching MONDO:0014725 spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome skos:exactMatch Orphanet:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome semapv:UnspecifiedMatching MONDO:0014725 spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome skos:exactMatch UMLS:C4225254 semapv:UnspecifiedMatching MONDO:0014726 Charcot-Marie-Tooth disease axonal type 2X skos:exactMatch DOID:0110176 Charcot-Marie-Tooth disease axonal type 2X semapv:UnspecifiedMatching MONDO:0014726 Charcot-Marie-Tooth disease axonal type 2X skos:exactMatch EFO:1001983 semapv:UnspecifiedMatching MONDO:0014726 Charcot-Marie-Tooth disease axonal type 2X skos:exactMatch MEDGEN:1800447 semapv:UnspecifiedMatching MONDO:0014726 Charcot-Marie-Tooth disease axonal type 2X skos:exactMatch OMIM:616668 charcot-marie-tooth disease, axonal, type 2x semapv:UnspecifiedMatching MONDO:0014726 Charcot-Marie-Tooth disease axonal type 2X skos:exactMatch Orphanet:466775 Autosomal recessive Charcot-Marie-Tooth disease type 2X semapv:UnspecifiedMatching MONDO:0014726 Charcot-Marie-Tooth disease axonal type 2X skos:exactMatch UMLS:C5569024 semapv:UnspecifiedMatching MONDO:0014727 immunodeficiency 45 skos:exactMatch DOID:0111994 immunodeficiency 45 semapv:UnspecifiedMatching MONDO:0014727 immunodeficiency 45 skos:exactMatch MEDGEN:901044 semapv:UnspecifiedMatching MONDO:0014727 immunodeficiency 45 skos:exactMatch OMIM:616669 immunodeficiency 45 semapv:UnspecifiedMatching MONDO:0014727 immunodeficiency 45 skos:exactMatch UMLS:C4225252 semapv:UnspecifiedMatching MONDO:0014728 combined oxidative phosphorylation defect type 27 skos:exactMatch DOID:0111489 combined oxidative phosphorylation deficiency 27 semapv:UnspecifiedMatching MONDO:0014728 combined oxidative phosphorylation defect type 27 skos:exactMatch MEDGEN:1799031 semapv:UnspecifiedMatching MONDO:0014728 combined oxidative phosphorylation defect type 27 skos:exactMatch OMIM:616672 combined oxidative phosphorylation deficiency 27 semapv:UnspecifiedMatching MONDO:0014728 combined oxidative phosphorylation defect type 27 skos:exactMatch Orphanet:477774 Combined oxidative phosphorylation defect type 27 semapv:UnspecifiedMatching MONDO:0014728 combined oxidative phosphorylation defect type 27 skos:exactMatch UMLS:C5567608 semapv:UnspecifiedMatching MONDO:0014729 hereditary spastic paraplegia 75 skos:exactMatch DOID:0110820 hereditary spastic paraplegia 75 semapv:UnspecifiedMatching MONDO:0014729 hereditary spastic paraplegia 75 skos:exactMatch MEDGEN:896387 semapv:UnspecifiedMatching MONDO:0014729 hereditary spastic paraplegia 75 skos:exactMatch OMIM:616680 spastic paraplegia 75, autosomal recessive semapv:UnspecifiedMatching MONDO:0014729 hereditary spastic paraplegia 75 skos:exactMatch Orphanet:459056 Autosomal recessive spastic paraplegia type 75 semapv:UnspecifiedMatching MONDO:0014729 hereditary spastic paraplegia 75 skos:exactMatch UMLS:C4225250 semapv:UnspecifiedMatching MONDO:0014730 microcephaly 16, primary, autosomal recessive skos:exactMatch DOID:0070289 primary autosomal recessive microcephaly 16 semapv:UnspecifiedMatching MONDO:0014730 microcephaly 16, primary, autosomal recessive skos:exactMatch MEDGEN:898705 semapv:UnspecifiedMatching MONDO:0014730 microcephaly 16, primary, autosomal recessive skos:exactMatch OMIM:616681 microcephaly 16, primary, autosomal recessive semapv:UnspecifiedMatching MONDO:0014730 microcephaly 16, primary, autosomal recessive skos:exactMatch UMLS:C4225249 semapv:UnspecifiedMatching MONDO:0014731 seizures-scoliosis-macrocephaly syndrome skos:exactMatch MEDGEN:909039 semapv:UnspecifiedMatching MONDO:0014731 seizures-scoliosis-macrocephaly syndrome skos:exactMatch OMIM:616682 seizures, scoliosis, and macrocephaly/microcephaly syndrome semapv:UnspecifiedMatching MONDO:0014731 seizures-scoliosis-macrocephaly syndrome skos:exactMatch Orphanet:466926 Seizures-scoliosis-macrocephaly syndrome semapv:UnspecifiedMatching MONDO:0014731 seizures-scoliosis-macrocephaly syndrome skos:exactMatch UMLS:C4225248 semapv:UnspecifiedMatching MONDO:0014732 hypomyelinating leukodystrophy 12 skos:exactMatch DOID:0060796 hypomyelinating leukodystrophy 12 semapv:UnspecifiedMatching MONDO:0014732 hypomyelinating leukodystrophy 12 skos:exactMatch MEDGEN:905068 semapv:UnspecifiedMatching MONDO:0014732 hypomyelinating leukodystrophy 12 skos:exactMatch OMIM:616683 leukodystrophy, hypomyelinating, 12 semapv:UnspecifiedMatching MONDO:0014732 hypomyelinating leukodystrophy 12 skos:exactMatch Orphanet:466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy semapv:UnspecifiedMatching MONDO:0014732 hypomyelinating leukodystrophy 12 skos:exactMatch UMLS:C4225247 semapv:UnspecifiedMatching MONDO:0014733 Charcot-Marie-Tooth disease type 4K skos:exactMatch DOID:0110187 Charcot-Marie-Tooth disease type 4K semapv:UnspecifiedMatching MONDO:0014733 Charcot-Marie-Tooth disease type 4K skos:exactMatch MEDGEN:895560 semapv:UnspecifiedMatching MONDO:0014733 Charcot-Marie-Tooth disease type 4K skos:exactMatch OMIM:616684 charcot-marie-tooth disease, demyelinating, type 4k semapv:UnspecifiedMatching MONDO:0014733 Charcot-Marie-Tooth disease type 4K skos:exactMatch Orphanet:391351 SURF1-related Charcot-Marie-Tooth disease type 4 semapv:UnspecifiedMatching MONDO:0014733 Charcot-Marie-Tooth disease type 4K skos:exactMatch SCTID:765047006 semapv:UnspecifiedMatching MONDO:0014733 Charcot-Marie-Tooth disease type 4K skos:exactMatch UMLS:C4225246 semapv:UnspecifiedMatching MONDO:0014734 epilepsy, idiopathic generalized, susceptibility to, 14 skos:exactMatch MEDGEN:903934 semapv:UnspecifiedMatching MONDO:0014734 epilepsy, idiopathic generalized, susceptibility to, 14 skos:exactMatch OMIM:616685 epilepsy, idiopathic generalized, susceptibility to, 14 semapv:UnspecifiedMatching MONDO:0014734 epilepsy, idiopathic generalized, susceptibility to, 14 skos:exactMatch UMLS:C4225245 semapv:UnspecifiedMatching MONDO:0014735 Charcot-Marie-Tooth disease type 2Y skos:exactMatch DOID:0110168 Charcot-Marie-Tooth disease type 2Y semapv:UnspecifiedMatching MONDO:0014735 Charcot-Marie-Tooth disease type 2Y skos:exactMatch MEDGEN:1800449 semapv:UnspecifiedMatching MONDO:0014735 Charcot-Marie-Tooth disease type 2Y skos:exactMatch NCIT:C168974 Charcot-Marie-Tooth Disease Type 2Y semapv:UnspecifiedMatching MONDO:0014735 Charcot-Marie-Tooth disease type 2Y skos:exactMatch OMIM:616687 charcot-marie-tooth disease, axonal, type 2y semapv:UnspecifiedMatching MONDO:0014735 Charcot-Marie-Tooth disease type 2Y skos:exactMatch Orphanet:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y semapv:UnspecifiedMatching MONDO:0014735 Charcot-Marie-Tooth disease type 2Y skos:exactMatch UMLS:C5569026 semapv:UnspecifiedMatching MONDO:0014736 Charcot-Marie-Tooth disease axonal type 2Z skos:exactMatch DOID:0110181 Charcot-Marie-Tooth disease axonal type 2Z semapv:UnspecifiedMatching MONDO:0014736 Charcot-Marie-Tooth disease axonal type 2Z skos:exactMatch MEDGEN:1800448 semapv:UnspecifiedMatching MONDO:0014736 Charcot-Marie-Tooth disease axonal type 2Z skos:exactMatch OMIM:616688 charcot-marie-tooth disease, axonal, type 2z semapv:UnspecifiedMatching MONDO:0014736 Charcot-Marie-Tooth disease axonal type 2Z skos:exactMatch Orphanet:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z semapv:UnspecifiedMatching MONDO:0014736 Charcot-Marie-Tooth disease axonal type 2Z skos:exactMatch UMLS:C5569025 semapv:UnspecifiedMatching MONDO:0014737 dehydrated hereditary stomatocytosis 2 skos:exactMatch DOID:0111577 dehydrated hereditary stomatocytosis 2 semapv:UnspecifiedMatching MONDO:0014737 dehydrated hereditary stomatocytosis 2 skos:exactMatch MEDGEN:908701 semapv:UnspecifiedMatching MONDO:0014737 dehydrated hereditary stomatocytosis 2 skos:exactMatch OMIM:616689 dehydrated hereditary stomatocytosis 2 semapv:UnspecifiedMatching MONDO:0014737 dehydrated hereditary stomatocytosis 2 skos:exactMatch UMLS:C4225242 semapv:UnspecifiedMatching MONDO:0014738 autosomal dominant nonsyndromic hearing loss 69 skos:exactMatch DOID:0110590 autosomal dominant nonsyndromic deafness 69 semapv:UnspecifiedMatching MONDO:0014738 autosomal dominant nonsyndromic hearing loss 69 skos:exactMatch MEDGEN:905882 semapv:UnspecifiedMatching MONDO:0014738 autosomal dominant nonsyndromic hearing loss 69 skos:exactMatch OMIM:616697 deafness, autosomal dominant 69 semapv:UnspecifiedMatching MONDO:0014738 autosomal dominant nonsyndromic hearing loss 69 skos:exactMatch UMLS:C4225241 semapv:UnspecifiedMatching MONDO:0014739 autosomal recessive nonsyndromic hearing loss 97 skos:exactMatch DOID:0110539 autosomal recessive nonsyndromic deafness 97 semapv:UnspecifiedMatching MONDO:0014739 autosomal recessive nonsyndromic hearing loss 97 skos:exactMatch MEDGEN:899875 semapv:UnspecifiedMatching MONDO:0014739 autosomal recessive nonsyndromic hearing loss 97 skos:exactMatch OMIM:616705 deafness, autosomal recessive 97 semapv:UnspecifiedMatching MONDO:0014739 autosomal recessive nonsyndromic hearing loss 97 skos:exactMatch UMLS:C4084709 semapv:UnspecifiedMatching MONDO:0014740 autosomal dominant nonsyndromic hearing loss 68 skos:exactMatch DOID:0110589 autosomal dominant nonsyndromic deafness 68 semapv:UnspecifiedMatching MONDO:0014740 autosomal dominant nonsyndromic hearing loss 68 skos:exactMatch MEDGEN:898808 semapv:UnspecifiedMatching MONDO:0014740 autosomal dominant nonsyndromic hearing loss 68 skos:exactMatch OMIM:616707 deafness, autosomal dominant 68 semapv:UnspecifiedMatching MONDO:0014740 autosomal dominant nonsyndromic hearing loss 68 skos:exactMatch UMLS:C4225240 semapv:UnspecifiedMatching MONDO:0014741 DeSanto-Shinawi syndrome due to WAC point mutation skos:exactMatch MEDGEN:1841517 semapv:UnspecifiedMatching MONDO:0014741 DeSanto-Shinawi syndrome due to WAC point mutation skos:exactMatch OMIM:616708 desanto-shinawi syndrome semapv:UnspecifiedMatching MONDO:0014741 DeSanto-Shinawi syndrome due to WAC point mutation skos:exactMatch Orphanet:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation semapv:UnspecifiedMatching MONDO:0014741 DeSanto-Shinawi syndrome due to WAC point mutation skos:exactMatch UMLS:C5681129 semapv:UnspecifiedMatching MONDO:0014742 Parkinson disease 22, autosomal dominant skos:exactMatch DOID:0080504 Parkinson's disease 22 semapv:UnspecifiedMatching MONDO:0014742 Parkinson disease 22, autosomal dominant skos:exactMatch MEDGEN:907886 semapv:UnspecifiedMatching MONDO:0014742 Parkinson disease 22, autosomal dominant skos:exactMatch OMIM:616710 parkinson disease 22, autosomal dominant semapv:UnspecifiedMatching MONDO:0014742 Parkinson disease 22, autosomal dominant skos:exactMatch UMLS:C4225238 semapv:UnspecifiedMatching MONDO:0014743 rhizomelic chondrodysplasia punctata type 5 skos:exactMatch DOID:0110854 rhizomelic chondrodysplasia punctata type 5 semapv:UnspecifiedMatching MONDO:0014743 rhizomelic chondrodysplasia punctata type 5 skos:exactMatch MEDGEN:900333 semapv:UnspecifiedMatching MONDO:0014743 rhizomelic chondrodysplasia punctata type 5 skos:exactMatch OMIM:616716 rhizomelic chondrodysplasia punctata, type 5 semapv:UnspecifiedMatching MONDO:0014743 rhizomelic chondrodysplasia punctata type 5 skos:exactMatch Orphanet:468717 Rhizomelic chondrodysplasia punctata type 5 semapv:UnspecifiedMatching MONDO:0014743 rhizomelic chondrodysplasia punctata type 5 skos:exactMatch UMLS:C4225237 semapv:UnspecifiedMatching MONDO:0014744 acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome skos:exactMatch DOID:0111155 autosomal recessive spinocerebellar ataxia 21 semapv:UnspecifiedMatching MONDO:0014744 acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome skos:exactMatch MEDGEN:1800507 semapv:UnspecifiedMatching MONDO:0014744 acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome skos:exactMatch OMIM:616719 spinocerebellar ataxia, autosomal recessive 21 semapv:UnspecifiedMatching MONDO:0014744 acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome skos:exactMatch Orphanet:466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome semapv:UnspecifiedMatching MONDO:0014744 acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome skos:exactMatch UMLS:C5569084 semapv:UnspecifiedMatching MONDO:0014745 congenital myasthenic syndrome 19 skos:exactMatch DOID:0110673 congenital myasthenic syndrome 19 semapv:UnspecifiedMatching MONDO:0014745 congenital myasthenic syndrome 19 skos:exactMatch MEDGEN:897962 semapv:UnspecifiedMatching MONDO:0014745 congenital myasthenic syndrome 19 skos:exactMatch OMIM:616720 myasthenic syndrome, congenital, 19 semapv:UnspecifiedMatching MONDO:0014745 congenital myasthenic syndrome 19 skos:exactMatch UMLS:C4225235 semapv:UnspecifiedMatching MONDO:0014746 SLC39A8-CDG skos:exactMatch DOID:0070266 congenital disorder of glycosylation type IIn semapv:UnspecifiedMatching MONDO:0014746 SLC39A8-CDG skos:exactMatch MEDGEN:899837 semapv:UnspecifiedMatching MONDO:0014746 SLC39A8-CDG skos:exactMatch OMIM:616721 congenital disorder of glycosylation, type iin semapv:UnspecifiedMatching MONDO:0014746 SLC39A8-CDG skos:exactMatch Orphanet:468699 SLC39A8-CDG semapv:UnspecifiedMatching MONDO:0014746 SLC39A8-CDG skos:exactMatch UMLS:C4225234 semapv:UnspecifiedMatching MONDO:0014747 familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome skos:exactMatch MEDGEN:903733 semapv:UnspecifiedMatching MONDO:0014747 familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome skos:exactMatch OMIM:616722 retinal dystrophy and iris coloboma with or without cataract semapv:UnspecifiedMatching MONDO:0014747 familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome skos:exactMatch Orphanet:488197 Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome semapv:UnspecifiedMatching MONDO:0014747 familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome skos:exactMatch UMLS:C4225493 semapv:UnspecifiedMatching MONDO:0014748 progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome skos:exactMatch MEDGEN:1800305 semapv:UnspecifiedMatching MONDO:0014748 progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome skos:exactMatch OMIM:616723 spondyloepimetaphyseal dysplasia, faden-alkuraya type semapv:UnspecifiedMatching MONDO:0014748 progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome skos:exactMatch Orphanet:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0014748 progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome skos:exactMatch UMLS:C5568882 semapv:UnspecifiedMatching MONDO:0014749 tooth agenesis, selective, 7 skos:exactMatch MEDGEN:899184 semapv:UnspecifiedMatching MONDO:0014749 tooth agenesis, selective, 7 skos:exactMatch OMIM:616724 tooth agenesis, selective, 7 semapv:UnspecifiedMatching MONDO:0014749 tooth agenesis, selective, 7 skos:exactMatch UMLS:C4225231 semapv:UnspecifiedMatching MONDO:0014750 primary ciliary dyskinesia 33 skos:exactMatch DOID:0110619 primary ciliary dyskinesia 33 semapv:UnspecifiedMatching MONDO:0014750 primary ciliary dyskinesia 33 skos:exactMatch MEDGEN:898734 semapv:UnspecifiedMatching MONDO:0014750 primary ciliary dyskinesia 33 skos:exactMatch OMIM:616726 ciliary dyskinesia, primary, 33 semapv:UnspecifiedMatching MONDO:0014750 primary ciliary dyskinesia 33 skos:exactMatch UMLS:C4225230 semapv:UnspecifiedMatching MONDO:0014751 palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome skos:exactMatch MEDGEN:895943 semapv:UnspecifiedMatching MONDO:0014751 palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome skos:exactMatch OMIM:616728 cleft palate, psychomotor retardation, and distinctive facial features semapv:UnspecifiedMatching MONDO:0014751 palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome skos:exactMatch Orphanet:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome semapv:UnspecifiedMatching MONDO:0014751 palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome skos:exactMatch UMLS:C4225229 semapv:UnspecifiedMatching MONDO:0014752 nephrotic syndrome, type 11 skos:exactMatch DOID:0080385 nephrotic syndrome type 11 semapv:UnspecifiedMatching MONDO:0014752 nephrotic syndrome, type 11 skos:exactMatch MEDGEN:898622 semapv:UnspecifiedMatching MONDO:0014752 nephrotic syndrome, type 11 skos:exactMatch OMIM:616730 nephrotic syndrome, type 11 semapv:UnspecifiedMatching MONDO:0014752 nephrotic syndrome, type 11 skos:exactMatch UMLS:C4225228 semapv:UnspecifiedMatching MONDO:0014753 obsolete autosomal recessive optic atrophy skos:exactMatch Orphanet:98676 Autosomal recessive isolated optic atrophy semapv:UnspecifiedMatching MONDO:0014754 primary coenzyme Q10 deficiency 8 skos:exactMatch DOID:0070245 primary coenzyme Q10 deficiency 8 semapv:UnspecifiedMatching MONDO:0014754 primary coenzyme Q10 deficiency 8 skos:exactMatch MEDGEN:908648 semapv:UnspecifiedMatching MONDO:0014754 primary coenzyme Q10 deficiency 8 skos:exactMatch OMIM:616733 coenzyme Q10 deficiency, primary, 8 semapv:UnspecifiedMatching MONDO:0014754 primary coenzyme Q10 deficiency 8 skos:exactMatch UMLS:C4225226 semapv:UnspecifiedMatching MONDO:0014755 skin creases, congenital symmetric circumferential, 2 skos:exactMatch DOID:0112243 congenital symmetric circumferential skin creases 2 semapv:UnspecifiedMatching MONDO:0014755 skin creases, congenital symmetric circumferential, 2 skos:exactMatch MEDGEN:902880 semapv:UnspecifiedMatching MONDO:0014755 skin creases, congenital symmetric circumferential, 2 skos:exactMatch OMIM:616734 skin creases, congenital symmetric circumferential, 2 semapv:UnspecifiedMatching MONDO:0014755 skin creases, congenital symmetric circumferential, 2 skos:exactMatch UMLS:C4225225 semapv:UnspecifiedMatching MONDO:0014756 tremor, hereditary essential, 5 skos:exactMatch DOID:0111432 essential tremor 5 semapv:UnspecifiedMatching MONDO:0014756 tremor, hereditary essential, 5 skos:exactMatch MEDGEN:897748 semapv:UnspecifiedMatching MONDO:0014756 tremor, hereditary essential, 5 skos:exactMatch OMIM:616736 tremor, hereditary essential, 5 semapv:UnspecifiedMatching MONDO:0014756 tremor, hereditary essential, 5 skos:exactMatch UMLS:C4225223 semapv:UnspecifiedMatching MONDO:0014757 macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome skos:exactMatch MEDGEN:906646 semapv:UnspecifiedMatching MONDO:0014757 macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome skos:exactMatch OMIM:616737 takenouchi-kosaki syndrome semapv:UnspecifiedMatching MONDO:0014757 macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome skos:exactMatch Orphanet:487796 Takenouchi-Kosaki syndrome semapv:UnspecifiedMatching MONDO:0014757 macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome skos:exactMatch UMLS:C4225222 semapv:UnspecifiedMatching MONDO:0014758 radioulnar synostosis with amegakaryocytic thrombocytopenia 2 skos:exactMatch MEDGEN:901732 semapv:UnspecifiedMatching MONDO:0014758 radioulnar synostosis with amegakaryocytic thrombocytopenia 2 skos:exactMatch OMIM:616738 radioulnar synostosis with amegakaryocytic thrombocytopenia 2 semapv:UnspecifiedMatching MONDO:0014758 radioulnar synostosis with amegakaryocytic thrombocytopenia 2 skos:exactMatch UMLS:C4225221 semapv:UnspecifiedMatching MONDO:0014759 intellectual disability, autosomal recessive 51 skos:exactMatch DOID:0081214 autosomal recessive intellectual developmental disorder 51 semapv:UnspecifiedMatching MONDO:0014759 intellectual disability, autosomal recessive 51 skos:exactMatch MEDGEN:903243 semapv:UnspecifiedMatching MONDO:0014759 intellectual disability, autosomal recessive 51 skos:exactMatch OMIM:616739 intellectual developmental disorder, autosomal recessive 51 semapv:UnspecifiedMatching MONDO:0014759 intellectual disability, autosomal recessive 51 skos:exactMatch UMLS:C4225220 semapv:UnspecifiedMatching MONDO:0014760 TFRC-related combined immunodeficiency skos:exactMatch DOID:0111948 immunodeficiency 46 semapv:UnspecifiedMatching MONDO:0014760 TFRC-related combined immunodeficiency skos:exactMatch MEDGEN:1799556 semapv:UnspecifiedMatching MONDO:0014760 TFRC-related combined immunodeficiency skos:exactMatch OMIM:616740 immunodeficiency 46 semapv:UnspecifiedMatching MONDO:0014760 TFRC-related combined immunodeficiency skos:exactMatch Orphanet:476113 Combined immunodeficiency due to TFRC deficiency semapv:UnspecifiedMatching MONDO:0014760 TFRC-related combined immunodeficiency skos:exactMatch UMLS:C5568133 semapv:UnspecifiedMatching MONDO:0014762 heterotaxy, visceral, 7, autosomal skos:exactMatch DOID:0051021 visceral heterotaxy 7 semapv:UnspecifiedMatching MONDO:0014762 heterotaxy, visceral, 7, autosomal skos:exactMatch MEDGEN:902629 semapv:UnspecifiedMatching MONDO:0014762 heterotaxy, visceral, 7, autosomal skos:exactMatch OMIM:616749 heterotaxy, visceral, 7, autosomal semapv:UnspecifiedMatching MONDO:0014762 heterotaxy, visceral, 7, autosomal skos:exactMatch UMLS:C4225217 semapv:UnspecifiedMatching MONDO:0014763 obsolete Bombay phenotype skos:exactMatch OMIM:616754 bombay phenotype semapv:UnspecifiedMatching MONDO:0014764 spastic paraplegia-severe developmental delay-epilepsy syndrome skos:exactMatch MEDGEN:897828 semapv:UnspecifiedMatching MONDO:0014764 spastic paraplegia-severe developmental delay-epilepsy syndrome skos:exactMatch OMIM:616756 spastic paraplegia and psychomotor retardation with or without seizures semapv:UnspecifiedMatching MONDO:0014764 spastic paraplegia-severe developmental delay-epilepsy syndrome skos:exactMatch Orphanet:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome semapv:UnspecifiedMatching MONDO:0014764 spastic paraplegia-severe developmental delay-epilepsy syndrome skos:exactMatch UMLS:C4225215 semapv:UnspecifiedMatching MONDO:0014765 wooly hair, autosomal recessive 3 skos:exactMatch DOID:0111574 autosomal recessive woolly hair 3 semapv:UnspecifiedMatching MONDO:0014765 wooly hair, autosomal recessive 3 skos:exactMatch MEDGEN:902275 semapv:UnspecifiedMatching MONDO:0014765 wooly hair, autosomal recessive 3 skos:exactMatch OMIM:616760 woolly hair, autosomal recessive 3 semapv:UnspecifiedMatching MONDO:0014765 wooly hair, autosomal recessive 3 skos:exactMatch UMLS:C4225214 semapv:UnspecifiedMatching MONDO:0014766 leukodystrophy and acquired microcephaly with or without dystonia; skos:exactMatch MEDGEN:908888 semapv:UnspecifiedMatching MONDO:0014766 leukodystrophy and acquired microcephaly with or without dystonia; skos:exactMatch OMIM:616763 leukodystrophy and acquired microcephaly with or without dystonia semapv:UnspecifiedMatching MONDO:0014766 leukodystrophy and acquired microcephaly with or without dystonia; skos:exactMatch UMLS:C4225213 semapv:UnspecifiedMatching MONDO:0014767 Seckel syndrome 9 skos:exactMatch DOID:0070005 Seckel syndrome 9 semapv:UnspecifiedMatching MONDO:0014767 Seckel syndrome 9 skos:exactMatch MEDGEN:907155 semapv:UnspecifiedMatching MONDO:0014767 Seckel syndrome 9 skos:exactMatch OMIM:616777 seckel syndrome 9 semapv:UnspecifiedMatching MONDO:0014767 Seckel syndrome 9 skos:exactMatch UMLS:C4225212 semapv:UnspecifiedMatching MONDO:0014768 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 skos:exactMatch DOID:0111036 CADASIL 2 semapv:UnspecifiedMatching MONDO:0014768 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 skos:exactMatch MEDGEN:895965 semapv:UnspecifiedMatching MONDO:0014768 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 skos:exactMatch OMIM:616779 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 semapv:UnspecifiedMatching MONDO:0014768 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 skos:exactMatch UMLS:C4225211 semapv:UnspecifiedMatching MONDO:0014769 inherited oocyte maturation defect skos:exactMatch OMIMPS:615774 Oocyte/zygote/embryo maturation arrest semapv:UnspecifiedMatching MONDO:0014770 Joubert syndrome 25 skos:exactMatch DOID:0110994 Joubert syndrome 25 semapv:UnspecifiedMatching MONDO:0014770 Joubert syndrome 25 skos:exactMatch MEDGEN:895764 semapv:UnspecifiedMatching MONDO:0014770 Joubert syndrome 25 skos:exactMatch OMIM:616781 joubert syndrome 25 semapv:UnspecifiedMatching MONDO:0014770 Joubert syndrome 25 skos:exactMatch UMLS:C4084842 semapv:UnspecifiedMatching MONDO:0014771 Joubert syndrome 26 skos:exactMatch DOID:0110995 Joubert syndrome 26 semapv:UnspecifiedMatching MONDO:0014771 Joubert syndrome 26 skos:exactMatch MEDGEN:900415 semapv:UnspecifiedMatching MONDO:0014771 Joubert syndrome 26 skos:exactMatch OMIM:616784 joubert syndrome 26 semapv:UnspecifiedMatching MONDO:0014771 Joubert syndrome 26 skos:exactMatch UMLS:C4084843 semapv:UnspecifiedMatching MONDO:0014772 orofacial cleft 15 skos:exactMatch DOID:0080408 orofacial cleft 15 semapv:UnspecifiedMatching MONDO:0014772 orofacial cleft 15 skos:exactMatch MEDGEN:909661 semapv:UnspecifiedMatching MONDO:0014772 orofacial cleft 15 skos:exactMatch OMIM:616788 orofacial cleft 15 semapv:UnspecifiedMatching MONDO:0014772 orofacial cleft 15 skos:exactMatch UMLS:C4225209 semapv:UnspecifiedMatching MONDO:0014773 cardiac anomalies - developmental delay - facial dysmorphism syndrome skos:exactMatch MEDGEN:1675852 semapv:UnspecifiedMatching MONDO:0014773 cardiac anomalies - developmental delay - facial dysmorphism syndrome skos:exactMatch OMIM:616789 impaired intellectual development and distinctive facial features with or without cardiac defects semapv:UnspecifiedMatching MONDO:0014773 cardiac anomalies - developmental delay - facial dysmorphism syndrome skos:exactMatch Orphanet:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency semapv:UnspecifiedMatching MONDO:0014773 cardiac anomalies - developmental delay - facial dysmorphism syndrome skos:exactMatch UMLS:C5192431 semapv:UnspecifiedMatching MONDO:0014774 neuroblastoma, susceptibility to, 7 skos:exactMatch MEDGEN:899178 semapv:UnspecifiedMatching MONDO:0014774 neuroblastoma, susceptibility to, 7 skos:exactMatch OMIM:616792 neuroblastoma, susceptibility to, 7 semapv:UnspecifiedMatching MONDO:0014774 neuroblastoma, susceptibility to, 7 skos:exactMatch UMLS:C4225207 semapv:UnspecifiedMatching MONDO:0014775 combined oxidative phosphorylation deficiency 28 skos:exactMatch DOID:0111470 combined oxidative phosphorylation deficiency 28 semapv:UnspecifiedMatching MONDO:0014775 combined oxidative phosphorylation deficiency 28 skos:exactMatch MEDGEN:1800504 semapv:UnspecifiedMatching MONDO:0014775 combined oxidative phosphorylation deficiency 28 skos:exactMatch OMIM:616794 combined oxidative phosphorylation deficiency 28 semapv:UnspecifiedMatching MONDO:0014775 combined oxidative phosphorylation deficiency 28 skos:exactMatch Orphanet:466784 Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect semapv:UnspecifiedMatching MONDO:0014775 combined oxidative phosphorylation deficiency 28 skos:exactMatch UMLS:C5569081 semapv:UnspecifiedMatching MONDO:0014776 spinocerebellar ataxia type 42 skos:exactMatch DOID:0111742 cerebellar ataxia type 42 semapv:UnspecifiedMatching MONDO:0014776 spinocerebellar ataxia type 42 skos:exactMatch EFO:0009059 semapv:UnspecifiedMatching MONDO:0014776 spinocerebellar ataxia type 42 skos:exactMatch MEDGEN:902592 semapv:UnspecifiedMatching MONDO:0014776 spinocerebellar ataxia type 42 skos:exactMatch NCIT:C171269 Spinocerebellar Ataxia Type 42 semapv:UnspecifiedMatching MONDO:0014776 spinocerebellar ataxia type 42 skos:exactMatch OMIM:616795 spinocerebellar ataxia 42 semapv:UnspecifiedMatching MONDO:0014776 spinocerebellar ataxia type 42 skos:exactMatch Orphanet:458803 Spinocerebellar ataxia type 42 semapv:UnspecifiedMatching MONDO:0014776 spinocerebellar ataxia type 42 skos:exactMatch UMLS:C4225205 semapv:UnspecifiedMatching MONDO:0014777 hypotonia, infantile, with psychomotor retardation and characteristic facies 2 skos:exactMatch MEDGEN:907651 semapv:UnspecifiedMatching MONDO:0014777 hypotonia, infantile, with psychomotor retardation and characteristic facies 2 skos:exactMatch OMIM:616801 hypotonia, infantile, with psychomotor retardation and characteristic facies 2 semapv:UnspecifiedMatching MONDO:0014777 hypotonia, infantile, with psychomotor retardation and characteristic facies 2 skos:exactMatch Orphanet:700333 Hypotonia-speech impairment-severe cognitive delay syndrome due to UNC80 deficiency semapv:UnspecifiedMatching MONDO:0014777 hypotonia, infantile, with psychomotor retardation and characteristic facies 2 skos:exactMatch UMLS:C4225203 semapv:UnspecifiedMatching MONDO:0014778 Lamb-Shaffer syndrome skos:exactMatch MEDGEN:903542 semapv:UnspecifiedMatching MONDO:0014778 Lamb-Shaffer syndrome skos:exactMatch OMIM:616803 lamb-shaffer syndrome semapv:UnspecifiedMatching MONDO:0014778 Lamb-Shaffer syndrome skos:exactMatch Orphanet:530983 Lamb-Shaffer syndrome semapv:UnspecifiedMatching MONDO:0014778 Lamb-Shaffer syndrome skos:exactMatch UMLS:C4225202 semapv:UnspecifiedMatching MONDO:0014779 Wilms tumor 6 skos:exactMatch MEDGEN:855962 semapv:UnspecifiedMatching MONDO:0014779 Wilms tumor 6 skos:exactMatch OMIM:616806 wilms tumor 6 semapv:UnspecifiedMatching MONDO:0014779 Wilms tumor 6 skos:exactMatch UMLS:C3891301 semapv:UnspecifiedMatching MONDO:0014780 hyperphosphatasia with intellectual disability syndrome 6 skos:exactMatch DOID:0070437 hyperphosphatasia with impaired intellectual development syndrome 6 semapv:UnspecifiedMatching MONDO:0014780 hyperphosphatasia with intellectual disability syndrome 6 skos:exactMatch MEDGEN:906509 semapv:UnspecifiedMatching MONDO:0014780 hyperphosphatasia with intellectual disability syndrome 6 skos:exactMatch OMIM:616809 hyperphosphatasia with impaired intellectual development syndrome 6 semapv:UnspecifiedMatching MONDO:0014780 hyperphosphatasia with intellectual disability syndrome 6 skos:exactMatch UMLS:C4225201 semapv:UnspecifiedMatching MONDO:0014781 combined oxidative phosphorylation deficiency 29 skos:exactMatch DOID:0111501 combined oxidative phosphorylation deficiency 29 semapv:UnspecifiedMatching MONDO:0014781 combined oxidative phosphorylation deficiency 29 skos:exactMatch MEDGEN:1799030 semapv:UnspecifiedMatching MONDO:0014781 combined oxidative phosphorylation deficiency 29 skos:exactMatch OMIM:616811 combined oxidative phosphorylation deficiency 29 semapv:UnspecifiedMatching MONDO:0014781 combined oxidative phosphorylation deficiency 29 skos:exactMatch Orphanet:478029 Combined oxidative phosphorylation defect type 29 semapv:UnspecifiedMatching MONDO:0014781 combined oxidative phosphorylation deficiency 29 skos:exactMatch UMLS:C5567607 semapv:UnspecifiedMatching MONDO:0014782 autosomal recessive limb-girdle muscular dystrophy type 2X skos:exactMatch DOID:0110290 autosomal recessive limb-girdle muscular dystrophy type 2X semapv:UnspecifiedMatching MONDO:0014782 autosomal recessive limb-girdle muscular dystrophy type 2X skos:exactMatch MEDGEN:1799561 semapv:UnspecifiedMatching MONDO:0014782 autosomal recessive limb-girdle muscular dystrophy type 2X skos:exactMatch OMIM:616812 muscular dystrophy, limb-girdle, autosomal recessive 25 semapv:UnspecifiedMatching MONDO:0014782 autosomal recessive limb-girdle muscular dystrophy type 2X skos:exactMatch Orphanet:476084 BVES-related limb-girdle muscular dystrophy semapv:UnspecifiedMatching MONDO:0014782 autosomal recessive limb-girdle muscular dystrophy type 2X skos:exactMatch UMLS:C5568138 semapv:UnspecifiedMatching MONDO:0014783 obsolete preimplantation embryonic lethality 1 skos:exactMatch OMIM:616814 oocyte/zygote/embryo maturation arrest 15 semapv:UnspecifiedMatching MONDO:0014784 severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome skos:exactMatch MEDGEN:902080 semapv:UnspecifiedMatching MONDO:0014784 severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome skos:exactMatch OMIM:616816 hypotonia, infantile, with psychomotor retardation semapv:UnspecifiedMatching MONDO:0014784 severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome skos:exactMatch Orphanet:467176 Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome semapv:UnspecifiedMatching MONDO:0014784 severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome skos:exactMatch UMLS:C4225196 semapv:UnspecifiedMatching MONDO:0014785 microcephaly, short stature, and impaired glucose metabolism 2 skos:exactMatch MEDGEN:906140 semapv:UnspecifiedMatching MONDO:0014785 microcephaly, short stature, and impaired glucose metabolism 2 skos:exactMatch OMIM:616817 microcephaly, short stature, and impaired glucose metabolism 2 semapv:UnspecifiedMatching MONDO:0014785 microcephaly, short stature, and impaired glucose metabolism 2 skos:exactMatch UMLS:C4225195 semapv:UnspecifiedMatching MONDO:0014786 IgA nephropathy, susceptibility to, 3 skos:exactMatch MEDGEN:897340 semapv:UnspecifiedMatching MONDO:0014786 IgA nephropathy, susceptibility to, 3 skos:exactMatch OMIM:616818 iga nephropathy, susceptibility to, 3 semapv:UnspecifiedMatching MONDO:0014786 IgA nephropathy, susceptibility to, 3 skos:exactMatch UMLS:C4225194 semapv:UnspecifiedMatching MONDO:0014787 severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome skos:exactMatch MEDGEN:902346 semapv:UnspecifiedMatching MONDO:0014787 severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome skos:exactMatch OMIM:616819 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia semapv:UnspecifiedMatching MONDO:0014787 severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome skos:exactMatch Orphanet:466688 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome semapv:UnspecifiedMatching MONDO:0014787 severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome skos:exactMatch UMLS:C4225193 semapv:UnspecifiedMatching MONDO:0014788 autosomal recessive limb-girdle muscular dystrophy type 2W skos:exactMatch DOID:0110288 autosomal recessive limb-girdle muscular dystrophy type 2W semapv:UnspecifiedMatching MONDO:0014788 autosomal recessive limb-girdle muscular dystrophy type 2W skos:exactMatch MEDGEN:897675 semapv:UnspecifiedMatching MONDO:0014788 autosomal recessive limb-girdle muscular dystrophy type 2W skos:exactMatch OMIM:616827 muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue semapv:UnspecifiedMatching MONDO:0014788 autosomal recessive limb-girdle muscular dystrophy type 2W skos:exactMatch UMLS:C4225192 semapv:UnspecifiedMatching MONDO:0014789 CCDC115-CDG skos:exactMatch DOID:0070267 congenital disorder of glycosylation type IIo semapv:UnspecifiedMatching MONDO:0014789 CCDC115-CDG skos:exactMatch MEDGEN:906792 semapv:UnspecifiedMatching MONDO:0014789 CCDC115-CDG skos:exactMatch OMIM:616828 congenital disorder of glycosylation, type iio semapv:UnspecifiedMatching MONDO:0014789 CCDC115-CDG skos:exactMatch Orphanet:468684 CCDC115-CDG semapv:UnspecifiedMatching MONDO:0014789 CCDC115-CDG skos:exactMatch UMLS:C4225191 semapv:UnspecifiedMatching MONDO:0014790 TMEM199-CDG skos:exactMatch DOID:0070268 congenital disorder of glycosylation type IIp semapv:UnspecifiedMatching MONDO:0014790 TMEM199-CDG skos:exactMatch MEDGEN:895025 semapv:UnspecifiedMatching MONDO:0014790 TMEM199-CDG skos:exactMatch OMIM:616829 congenital disorder of glycosylation, type iip semapv:UnspecifiedMatching MONDO:0014790 TMEM199-CDG skos:exactMatch Orphanet:466703 TMEM199-CDG semapv:UnspecifiedMatching MONDO:0014790 TMEM199-CDG skos:exactMatch UMLS:C4225190 semapv:UnspecifiedMatching MONDO:0014791 Luscan-Lumish syndrome skos:exactMatch MEDGEN:898669 semapv:UnspecifiedMatching MONDO:0014791 Luscan-Lumish syndrome skos:exactMatch OMIM:616831 luscan-lumish syndrome semapv:UnspecifiedMatching MONDO:0014791 Luscan-Lumish syndrome skos:exactMatch Orphanet:597738 Luscan-Lumish syndrome semapv:UnspecifiedMatching MONDO:0014791 Luscan-Lumish syndrome skos:exactMatch UMLS:C4085873 semapv:UnspecifiedMatching MONDO:0014792 Paget disease of bone 6 skos:exactMatch DOID:0081369 Paget's disease of bone 6 semapv:UnspecifiedMatching MONDO:0014792 Paget disease of bone 6 skos:exactMatch MEDGEN:908743 semapv:UnspecifiedMatching MONDO:0014792 Paget disease of bone 6 skos:exactMatch OMIM:616833 paget disease of bone 6 semapv:UnspecifiedMatching MONDO:0014792 Paget disease of bone 6 skos:exactMatch UMLS:C4085250 semapv:UnspecifiedMatching MONDO:0014793 microcephaly-congenital cataract-psoriasiform dermatitis syndrome skos:exactMatch MEDGEN:1798933 semapv:UnspecifiedMatching MONDO:0014793 microcephaly-congenital cataract-psoriasiform dermatitis syndrome skos:exactMatch OMIM:616834 microcephaly, congenital cataract, and psoriasiform dermatitis semapv:UnspecifiedMatching MONDO:0014793 microcephaly-congenital cataract-psoriasiform dermatitis syndrome skos:exactMatch Orphanet:488168 Microcephaly-congenital cataract-psoriasiform dermatitis syndrome semapv:UnspecifiedMatching MONDO:0014793 microcephaly-congenital cataract-psoriasiform dermatitis syndrome skos:exactMatch UMLS:C5567510 semapv:UnspecifiedMatching MONDO:0014794 Meier-Gorlin syndrome 6 skos:exactMatch DOID:0080517 Meier-Gorlin syndrome 6 semapv:UnspecifiedMatching MONDO:0014794 Meier-Gorlin syndrome 6 skos:exactMatch MEDGEN:905079 semapv:UnspecifiedMatching MONDO:0014794 Meier-Gorlin syndrome 6 skos:exactMatch OMIM:616835 meier-gorlin syndrome 6 semapv:UnspecifiedMatching MONDO:0014794 Meier-Gorlin syndrome 6 skos:exactMatch UMLS:C4225188 semapv:UnspecifiedMatching MONDO:0014795 exercise intolerance, riboflavin-responsive skos:exactMatch MEDGEN:896368 semapv:UnspecifiedMatching MONDO:0014795 exercise intolerance, riboflavin-responsive skos:exactMatch OMIM:616839 exercise intolerance, riboflavin-responsive semapv:UnspecifiedMatching MONDO:0014795 exercise intolerance, riboflavin-responsive skos:exactMatch UMLS:C4225187 semapv:UnspecifiedMatching MONDO:0014796 autosomal recessive early-onset Parkinson disease 23 skos:exactMatch DOID:0060896 Parkinson's disease 23 semapv:UnspecifiedMatching MONDO:0014796 autosomal recessive early-onset Parkinson disease 23 skos:exactMatch MEDGEN:896607 semapv:UnspecifiedMatching MONDO:0014796 autosomal recessive early-onset Parkinson disease 23 skos:exactMatch OMIM:616840 parkinson disease 23, autosomal recessive early-onset semapv:UnspecifiedMatching MONDO:0014796 autosomal recessive early-onset Parkinson disease 23 skos:exactMatch UMLS:C4225186 semapv:UnspecifiedMatching MONDO:0014797 lymphatic malformation 6 skos:exactMatch MEDGEN:908120 semapv:UnspecifiedMatching MONDO:0014797 lymphatic malformation 6 skos:exactMatch OMIM:616843 lymphatic malformation 6 semapv:UnspecifiedMatching MONDO:0014797 lymphatic malformation 6 skos:exactMatch Orphanet:568062 PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis semapv:UnspecifiedMatching MONDO:0014797 lymphatic malformation 6 skos:exactMatch UMLS:C4225184 semapv:UnspecifiedMatching MONDO:0014798 brachydactyly type A1D skos:exactMatch DOID:0110978 brachydactyly type A1D semapv:UnspecifiedMatching MONDO:0014798 brachydactyly type A1D skos:exactMatch MEDGEN:903193 semapv:UnspecifiedMatching MONDO:0014798 brachydactyly type A1D skos:exactMatch OMIM:616849 brachydactyly, type a1, d semapv:UnspecifiedMatching MONDO:0014798 brachydactyly type A1D skos:exactMatch UMLS:C4225183 semapv:UnspecifiedMatching MONDO:0014799 cataract 45 skos:exactMatch DOID:0110262 cataract 45 semapv:UnspecifiedMatching MONDO:0014799 cataract 45 skos:exactMatch MEDGEN:895198 semapv:UnspecifiedMatching MONDO:0014799 cataract 45 skos:exactMatch OMIM:616851 cataract 45 semapv:UnspecifiedMatching MONDO:0014799 cataract 45 skos:exactMatch UMLS:C4225182 semapv:UnspecifiedMatching MONDO:0014800 progressive scapulohumeroperoneal distal myopathy skos:exactMatch MEDGEN:905125 semapv:UnspecifiedMatching MONDO:0014800 progressive scapulohumeroperoneal distal myopathy skos:exactMatch OMIM:616852 myopathy, scapulohumeroperoneal semapv:UnspecifiedMatching MONDO:0014800 progressive scapulohumeroperoneal distal myopathy skos:exactMatch Orphanet:447977 Progressive scapulohumeroperoneal distal myopathy semapv:UnspecifiedMatching MONDO:0014800 progressive scapulohumeroperoneal distal myopathy skos:exactMatch UMLS:C4225181 semapv:UnspecifiedMatching MONDO:0014801 even-plus syndrome skos:exactMatch MEDGEN:904613 semapv:UnspecifiedMatching MONDO:0014801 even-plus syndrome skos:exactMatch OMIM:616854 even-plus syndrome semapv:UnspecifiedMatching MONDO:0014801 even-plus syndrome skos:exactMatch Orphanet:496751 EVEN-plus syndrome semapv:UnspecifiedMatching MONDO:0014801 even-plus syndrome skos:exactMatch UMLS:C4225180 semapv:UnspecifiedMatching MONDO:0014802 Cowden syndrome 7 skos:exactMatch DOID:0081003 Cowden syndrome 7 semapv:UnspecifiedMatching MONDO:0014802 Cowden syndrome 7 skos:exactMatch MEDGEN:908796 semapv:UnspecifiedMatching MONDO:0014802 Cowden syndrome 7 skos:exactMatch OMIM:616858 cowden syndrome 7 semapv:UnspecifiedMatching MONDO:0014802 Cowden syndrome 7 skos:exactMatch UMLS:C4225179 semapv:UnspecifiedMatching MONDO:0014803 spasticity-ataxia-gait anomalies syndrome skos:exactMatch MEDGEN:905660 semapv:UnspecifiedMatching MONDO:0014803 spasticity-ataxia-gait anomalies syndrome skos:exactMatch OMIM:616859 spasticity, childhood-onset, with hyperglycinemia semapv:UnspecifiedMatching MONDO:0014803 spasticity-ataxia-gait anomalies syndrome skos:exactMatch Orphanet:401866 Childhood-onset spasticity with hyperglycinemia semapv:UnspecifiedMatching MONDO:0014803 spasticity-ataxia-gait anomalies syndrome skos:exactMatch UMLS:C4225178 semapv:UnspecifiedMatching MONDO:0014804 sideroblastic anemia 3 skos:exactMatch DOID:0080343 autosomal recessive pyridoxine-refractory sideroblastic anemia 3 semapv:UnspecifiedMatching MONDO:0014804 sideroblastic anemia 3 skos:exactMatch MEDGEN:895975 semapv:UnspecifiedMatching MONDO:0014804 sideroblastic anemia 3 skos:exactMatch OMIM:616860 anemia, sideroblastic, 3, pyridoxine-refractory semapv:UnspecifiedMatching MONDO:0014804 sideroblastic anemia 3 skos:exactMatch Orphanet:255132 Adult-onset autosomal recessive sideroblastic anemia semapv:UnspecifiedMatching MONDO:0014804 sideroblastic anemia 3 skos:exactMatch SCTID:720465002 semapv:UnspecifiedMatching MONDO:0014804 sideroblastic anemia 3 skos:exactMatch UMLS:C4225155 semapv:UnspecifiedMatching MONDO:0014805 Hao-Fountain syndrome skos:exactMatch MEDGEN:1719035 semapv:UnspecifiedMatching MONDO:0014805 Hao-Fountain syndrome skos:exactMatch Orphanet:643549 Hao-Fountain syndrome semapv:UnspecifiedMatching MONDO:0014805 Hao-Fountain syndrome skos:exactMatch UMLS:C5393908 semapv:UnspecifiedMatching MONDO:0014806 spinal muscular atrophy with congenital bone fractures 1 skos:exactMatch MEDGEN:896011 semapv:UnspecifiedMatching MONDO:0014806 spinal muscular atrophy with congenital bone fractures 1 skos:exactMatch OMIM:616866 spinal muscular atrophy with congenital bone fractures 1 semapv:UnspecifiedMatching MONDO:0014806 spinal muscular atrophy with congenital bone fractures 1 skos:exactMatch UMLS:C4225177 semapv:UnspecifiedMatching MONDO:0014806 spinal muscular atrophy with congenital bone fractures 1 skos:exactMatch mesh:C564805 semapv:UnspecifiedMatching MONDO:0014807 spinal muscular atrophy with congenital bone fractures 2 skos:exactMatch MEDGEN:907910 semapv:UnspecifiedMatching MONDO:0014807 spinal muscular atrophy with congenital bone fractures 2 skos:exactMatch OMIM:616867 spinal muscular atrophy with congenital bone fractures 2 semapv:UnspecifiedMatching MONDO:0014807 spinal muscular atrophy with congenital bone fractures 2 skos:exactMatch UMLS:C4225176 semapv:UnspecifiedMatching MONDO:0014808 congenital secretory sodium diarrhea 8 skos:exactMatch DOID:0060777 congenital secretory sodium diarrhea 8 semapv:UnspecifiedMatching MONDO:0014808 congenital secretory sodium diarrhea 8 skos:exactMatch MEDGEN:1783137 semapv:UnspecifiedMatching MONDO:0014808 congenital secretory sodium diarrhea 8 skos:exactMatch OMIM:616868 diarrhea 8, secretory sodium, congenital semapv:UnspecifiedMatching MONDO:0014808 congenital secretory sodium diarrhea 8 skos:exactMatch UMLS:C5441928 semapv:UnspecifiedMatching MONDO:0014809 DDX41-related hematologic malignancy predisposition syndrome skos:exactMatch MEDGEN:895780 semapv:UnspecifiedMatching MONDO:0014809 DDX41-related hematologic malignancy predisposition syndrome skos:exactMatch OMIM:616871 myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to semapv:UnspecifiedMatching MONDO:0014809 DDX41-related hematologic malignancy predisposition syndrome skos:exactMatch Orphanet:488647 DDX41-related hematologic malignancy predisposition syndrome semapv:UnspecifiedMatching MONDO:0014809 DDX41-related hematologic malignancy predisposition syndrome skos:exactMatch UMLS:C4225174 semapv:UnspecifiedMatching MONDO:0014810 pancytopenia due to IKZF1 mutations skos:exactMatch DOID:0081155 common variable immunodeficiency 13 semapv:UnspecifiedMatching MONDO:0014810 pancytopenia due to IKZF1 mutations skos:exactMatch MEDGEN:905078 semapv:UnspecifiedMatching MONDO:0014810 pancytopenia due to IKZF1 mutations skos:exactMatch OMIM:616873 immunodeficiency, common variable, 13 semapv:UnspecifiedMatching MONDO:0014810 pancytopenia due to IKZF1 mutations skos:exactMatch Orphanet:317473 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency semapv:UnspecifiedMatching MONDO:0014810 pancytopenia due to IKZF1 mutations skos:exactMatch UMLS:C4225173 semapv:UnspecifiedMatching MONDO:0014810 pancytopenia due to IKZF1 mutations skos:exactMatch icd11.foundation:1240674590 Pancytopenia due to IKZF1 mutations semapv:UnspecifiedMatching MONDO:0014811 cerebellar atrophy, visual impairment, and psychomotor retardation; skos:exactMatch DOID:0081276 cerebellar atrophy, visual impairment, and psychomotor retardation semapv:UnspecifiedMatching MONDO:0014811 cerebellar atrophy, visual impairment, and psychomotor retardation; skos:exactMatch MEDGEN:905041 semapv:UnspecifiedMatching MONDO:0014811 cerebellar atrophy, visual impairment, and psychomotor retardation; skos:exactMatch OMIM:616875 cerebellar atrophy, visual impairment, and psychomotor retardation semapv:UnspecifiedMatching MONDO:0014811 cerebellar atrophy, visual impairment, and psychomotor retardation; skos:exactMatch UMLS:C4225172 semapv:UnspecifiedMatching MONDO:0014813 hypomyelinating leukodystrophy 13 skos:exactMatch DOID:0060795 hypomyelinating leukodystrophy 13 semapv:UnspecifiedMatching MONDO:0014813 hypomyelinating leukodystrophy 13 skos:exactMatch MEDGEN:896545 semapv:UnspecifiedMatching MONDO:0014813 hypomyelinating leukodystrophy 13 skos:exactMatch OMIM:616881 leukodystrophy, hypomyelinating, 13 semapv:UnspecifiedMatching MONDO:0014813 hypomyelinating leukodystrophy 13 skos:exactMatch UMLS:C4225170 semapv:UnspecifiedMatching MONDO:0014814 advanced sleep phase syndrome 3 skos:exactMatch DOID:0110013 advanced sleep phase syndrome 3 semapv:UnspecifiedMatching MONDO:0014814 advanced sleep phase syndrome 3 skos:exactMatch MEDGEN:909447 semapv:UnspecifiedMatching MONDO:0014814 advanced sleep phase syndrome 3 skos:exactMatch OMIM:616882 advanced sleep phase syndrome, familial, 3 semapv:UnspecifiedMatching MONDO:0014814 advanced sleep phase syndrome 3 skos:exactMatch UMLS:C4225169 semapv:UnspecifiedMatching MONDO:0014815 intellectual disability, autosomal recessive 52 skos:exactMatch DOID:0081215 autosomal recessive intellectual developmental disorder 52 semapv:UnspecifiedMatching MONDO:0014815 intellectual disability, autosomal recessive 52 skos:exactMatch MEDGEN:903181 semapv:UnspecifiedMatching MONDO:0014815 intellectual disability, autosomal recessive 52 skos:exactMatch OMIM:616887 intellectual developmental disorder, autosomal recessive 52 semapv:UnspecifiedMatching MONDO:0014815 intellectual disability, autosomal recessive 52 skos:exactMatch UMLS:C4225168 semapv:UnspecifiedMatching MONDO:0014816 split-foot malformation-mesoaxial polydactyly syndrome skos:exactMatch MEDGEN:1798910 semapv:UnspecifiedMatching MONDO:0014816 split-foot malformation-mesoaxial polydactyly syndrome skos:exactMatch OMIM:616890 split-foot malformation with mesoaxial polydactyly semapv:UnspecifiedMatching MONDO:0014816 split-foot malformation-mesoaxial polydactyly syndrome skos:exactMatch Orphanet:488232 Split-foot malformation-mesoaxial polydactyly syndrome semapv:UnspecifiedMatching MONDO:0014816 split-foot malformation-mesoaxial polydactyly syndrome skos:exactMatch UMLS:C5567487 semapv:UnspecifiedMatching MONDO:0014817 nephrotic syndrome, type 12 skos:exactMatch DOID:0080387 nephrotic syndrome type 12 semapv:UnspecifiedMatching MONDO:0014817 nephrotic syndrome, type 12 skos:exactMatch MEDGEN:904365 semapv:UnspecifiedMatching MONDO:0014817 nephrotic syndrome, type 12 skos:exactMatch OMIM:616892 nephrotic syndrome, type 12 semapv:UnspecifiedMatching MONDO:0014817 nephrotic syndrome, type 12 skos:exactMatch UMLS:C4225166 semapv:UnspecifiedMatching MONDO:0014818 nephrotic syndrome, type 13 skos:exactMatch DOID:0080381 nephrotic syndrome type 13 semapv:UnspecifiedMatching MONDO:0014818 nephrotic syndrome, type 13 skos:exactMatch MEDGEN:900240 semapv:UnspecifiedMatching MONDO:0014818 nephrotic syndrome, type 13 skos:exactMatch OMIM:616893 nephrotic syndrome, type 13 semapv:UnspecifiedMatching MONDO:0014818 nephrotic syndrome, type 13 skos:exactMatch UMLS:C4225165 semapv:UnspecifiedMatching MONDO:0014819 autosomal dominant Robinow syndrome 3 skos:exactMatch DOID:0060767 autosomal dominant Robinow syndrome 3 semapv:UnspecifiedMatching MONDO:0014819 autosomal dominant Robinow syndrome 3 skos:exactMatch MEDGEN:907878 semapv:UnspecifiedMatching MONDO:0014819 autosomal dominant Robinow syndrome 3 skos:exactMatch OMIM:616894 robinow syndrome, autosomal dominant 3 semapv:UnspecifiedMatching MONDO:0014819 autosomal dominant Robinow syndrome 3 skos:exactMatch UMLS:C4225164 semapv:UnspecifiedMatching MONDO:0014820 mitochondrial DNA depletion syndrome 14B (cardioencephalomyopathic type) skos:exactMatch DOID:0080336 mitochondrial DNA depletion syndrome 14 semapv:UnspecifiedMatching MONDO:0014820 mitochondrial DNA depletion syndrome 14B (cardioencephalomyopathic type) skos:exactMatch MEDGEN:903789 semapv:UnspecifiedMatching MONDO:0014820 mitochondrial DNA depletion syndrome 14B (cardioencephalomyopathic type) skos:exactMatch OMIM:616896 mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) semapv:UnspecifiedMatching MONDO:0014820 mitochondrial DNA depletion syndrome 14B (cardioencephalomyopathic type) skos:exactMatch UMLS:C4225163 semapv:UnspecifiedMatching MONDO:0014821 complex lethal osteochondrodysplasia skos:exactMatch MEDGEN:900688 semapv:UnspecifiedMatching MONDO:0014821 complex lethal osteochondrodysplasia skos:exactMatch OMIM:616897 osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck type semapv:UnspecifiedMatching MONDO:0014821 complex lethal osteochondrodysplasia skos:exactMatch Orphanet:457378 Complex lethal osteochondrodysplasia semapv:UnspecifiedMatching MONDO:0014821 complex lethal osteochondrodysplasia skos:exactMatch UMLS:C4225162 semapv:UnspecifiedMatching MONDO:0014822 15q14 microdeletion syndrome skos:exactMatch MEDGEN:930899 semapv:UnspecifiedMatching MONDO:0014822 15q14 microdeletion syndrome skos:exactMatch OMIM:616898 chromosome 15q14 deletion syndrome semapv:UnspecifiedMatching MONDO:0014822 15q14 microdeletion syndrome skos:exactMatch Orphanet:261190 Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion semapv:UnspecifiedMatching MONDO:0014822 15q14 microdeletion syndrome skos:exactMatch SCTID:719575008 semapv:UnspecifiedMatching MONDO:0014822 15q14 microdeletion syndrome skos:exactMatch UMLS:C4305230 semapv:UnspecifiedMatching MONDO:0014823 hypotonia, infantile, with psychomotor retardation and characteristic facies 3 skos:exactMatch DOID:0060935 infantile hypotonia with psychomotor retardation and characteristic facies-3 semapv:UnspecifiedMatching MONDO:0014823 hypotonia, infantile, with psychomotor retardation and characteristic facies 3 skos:exactMatch MEDGEN:1798903 semapv:UnspecifiedMatching MONDO:0014823 hypotonia, infantile, with psychomotor retardation and characteristic facies 3 skos:exactMatch OMIM:616900 hypotonia, infantile, with psychomotor retardation and characteristic facies 3 semapv:UnspecifiedMatching MONDO:0014823 hypotonia, infantile, with psychomotor retardation and characteristic facies 3 skos:exactMatch Orphanet:488632 TBCK-related encephalopathy-severe hypotonia-craniofacial dysmorphism syndrome semapv:UnspecifiedMatching MONDO:0014823 hypotonia, infantile, with psychomotor retardation and characteristic facies 3 skos:exactMatch UMLS:C5567480 semapv:UnspecifiedMatching MONDO:0014825 chromosome 11p13 deletion syndrome, distal skos:exactMatch MEDGEN:935014 semapv:UnspecifiedMatching MONDO:0014825 chromosome 11p13 deletion syndrome, distal skos:exactMatch OMIM:616902 chromosome 11p13 deletion syndrome, distal semapv:UnspecifiedMatching MONDO:0014825 chromosome 11p13 deletion syndrome, distal skos:exactMatch UMLS:C4311047 semapv:UnspecifiedMatching MONDO:0014826 obsolete nucleoside diphosphate-linked moiety X Motif 15 deficiency skos:exactMatch DOID:0060996 poor metabolism of thiopurines 2 semapv:UnspecifiedMatching MONDO:0014826 obsolete nucleoside diphosphate-linked moiety X Motif 15 deficiency skos:exactMatch OMIM:616903 thiopurines, poor metabolism of, 2 semapv:UnspecifiedMatching MONDO:0014827 autosomal recessive spastic paraplegia type 76 skos:exactMatch DOID:0110821 hereditary spastic paraplegia 76 semapv:UnspecifiedMatching MONDO:0014827 autosomal recessive spastic paraplegia type 76 skos:exactMatch MEDGEN:1798906 semapv:UnspecifiedMatching MONDO:0014827 autosomal recessive spastic paraplegia type 76 skos:exactMatch OMIM:616907 spastic paraplegia 76, autosomal recessive semapv:UnspecifiedMatching MONDO:0014827 autosomal recessive spastic paraplegia type 76 skos:exactMatch Orphanet:488594 Autosomal recessive spastic paraplegia type 76 semapv:UnspecifiedMatching MONDO:0014827 autosomal recessive spastic paraplegia type 76 skos:exactMatch UMLS:C5567483 semapv:UnspecifiedMatching MONDO:0014828 immunodeficiency-centromeric instability-facial anomalies syndrome 3 skos:exactMatch DOID:0090010 immunodeficiency-centromeric instability-facial anomalies syndrome 3 semapv:UnspecifiedMatching MONDO:0014828 immunodeficiency-centromeric instability-facial anomalies syndrome 3 skos:exactMatch MEDGEN:934766 semapv:UnspecifiedMatching MONDO:0014828 immunodeficiency-centromeric instability-facial anomalies syndrome 3 skos:exactMatch OMIM:616910 immunodeficiency-centromeric instability-facial anomalies syndrome 3 semapv:UnspecifiedMatching MONDO:0014828 immunodeficiency-centromeric instability-facial anomalies syndrome 3 skos:exactMatch UMLS:C4310799 semapv:UnspecifiedMatching MONDO:0014829 immunodeficiency-centromeric instability-facial anomalies syndrome 4 skos:exactMatch DOID:0090011 immunodeficiency-centromeric instability-facial anomalies syndrome 4 semapv:UnspecifiedMatching MONDO:0014829 immunodeficiency-centromeric instability-facial anomalies syndrome 4 skos:exactMatch MEDGEN:934765 semapv:UnspecifiedMatching MONDO:0014829 immunodeficiency-centromeric instability-facial anomalies syndrome 4 skos:exactMatch OMIM:616911 immunodeficiency-centromeric instability-facial anomalies syndrome 4 semapv:UnspecifiedMatching MONDO:0014829 immunodeficiency-centromeric instability-facial anomalies syndrome 4 skos:exactMatch UMLS:C4310798 semapv:UnspecifiedMatching MONDO:0014830 platelet-type bleeding disorder 20 skos:exactMatch DOID:0111055 platelet-type bleeding disorder 20 semapv:UnspecifiedMatching MONDO:0014830 platelet-type bleeding disorder 20 skos:exactMatch MEDGEN:934764 semapv:UnspecifiedMatching MONDO:0014830 platelet-type bleeding disorder 20 skos:exactMatch OMIM:616913 bleeding disorder, platelet-type, 20 semapv:UnspecifiedMatching MONDO:0014830 platelet-type bleeding disorder 20 skos:exactMatch Orphanet:466806 Autosomal dominant thrombocytopenia with platelet secretion defect semapv:UnspecifiedMatching MONDO:0014830 platelet-type bleeding disorder 20 skos:exactMatch UMLS:C4310797 semapv:UnspecifiedMatching MONDO:0014831 progeroid and marfanoid aspect-lipodystrophy syndrome skos:exactMatch MEDGEN:934763 semapv:UnspecifiedMatching MONDO:0014831 progeroid and marfanoid aspect-lipodystrophy syndrome skos:exactMatch OMIM:616914 marfanoid-progeroid-lipodystrophy syndrome semapv:UnspecifiedMatching MONDO:0014831 progeroid and marfanoid aspect-lipodystrophy syndrome skos:exactMatch Orphanet:300382 Progeroid and marfanoid aspect-lipodystrophy syndrome semapv:UnspecifiedMatching MONDO:0014831 progeroid and marfanoid aspect-lipodystrophy syndrome skos:exactMatch UMLS:C4310796 semapv:UnspecifiedMatching MONDO:0014832 intellectual disability, autosomal recessive 53 skos:exactMatch MEDGEN:934761 semapv:UnspecifiedMatching MONDO:0014832 intellectual disability, autosomal recessive 53 skos:exactMatch OMIM:616917 neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy semapv:UnspecifiedMatching MONDO:0014832 intellectual disability, autosomal recessive 53 skos:exactMatch Orphanet:488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome semapv:UnspecifiedMatching MONDO:0014832 intellectual disability, autosomal recessive 53 skos:exactMatch UMLS:C4310794 semapv:UnspecifiedMatching MONDO:0014833 heart and brain malformation syndrome skos:exactMatch MEDGEN:934760 semapv:UnspecifiedMatching MONDO:0014833 heart and brain malformation syndrome skos:exactMatch OMIM:616920 heart and brain malformation syndrome semapv:UnspecifiedMatching MONDO:0014833 heart and brain malformation syndrome skos:exactMatch UMLS:C4310793 semapv:UnspecifiedMatching MONDO:0014835 striatal degeneration, autosomal dominant 2 skos:exactMatch DOID:0060998 striatal degeneration 2 semapv:UnspecifiedMatching MONDO:0014835 striatal degeneration, autosomal dominant 2 skos:exactMatch MEDGEN:934758 semapv:UnspecifiedMatching MONDO:0014835 striatal degeneration, autosomal dominant 2 skos:exactMatch OMIM:616922 striatal degeneration, autosomal dominant 2 semapv:UnspecifiedMatching MONDO:0014835 striatal degeneration, autosomal dominant 2 skos:exactMatch UMLS:C4310791 semapv:UnspecifiedMatching MONDO:0014836 Charcot-Marie-Tooth disease axonal type 2CC skos:exactMatch DOID:0110180 Charcot-Marie-Tooth disease axonal type 2CC semapv:UnspecifiedMatching MONDO:0014836 Charcot-Marie-Tooth disease axonal type 2CC skos:exactMatch MEDGEN:934757 semapv:UnspecifiedMatching MONDO:0014836 Charcot-Marie-Tooth disease axonal type 2CC skos:exactMatch OMIM:616924 charcot-marie-tooth disease, axonal, type 2cc semapv:UnspecifiedMatching MONDO:0014836 Charcot-Marie-Tooth disease axonal type 2CC skos:exactMatch UMLS:C4310790 semapv:UnspecifiedMatching MONDO:0014837 thrombocytopenia 6 skos:exactMatch MEDGEN:934756 semapv:UnspecifiedMatching MONDO:0014837 thrombocytopenia 6 skos:exactMatch OMIM:616937 thrombocytopenia 6 semapv:UnspecifiedMatching MONDO:0014837 thrombocytopenia 6 skos:exactMatch Orphanet:480851 Hereditary thrombocytopenia with early-onset myelofibrosis semapv:UnspecifiedMatching MONDO:0014837 thrombocytopenia 6 skos:exactMatch UMLS:C4310789 semapv:UnspecifiedMatching MONDO:0014838 Coffin-Siris syndrome 5 skos:exactMatch DOID:0112368 Coffin-Siris syndrome 5 semapv:UnspecifiedMatching MONDO:0014838 Coffin-Siris syndrome 5 skos:exactMatch MEDGEN:934755 semapv:UnspecifiedMatching MONDO:0014838 Coffin-Siris syndrome 5 skos:exactMatch OMIM:616938 coffin-siris syndrome 5 semapv:UnspecifiedMatching MONDO:0014838 Coffin-Siris syndrome 5 skos:exactMatch UMLS:C4310788 semapv:UnspecifiedMatching MONDO:0014839 chorea, childhood-onset, with psychomotor retardation skos:exactMatch MEDGEN:934754 semapv:UnspecifiedMatching MONDO:0014839 chorea, childhood-onset, with psychomotor retardation skos:exactMatch OMIM:616939 chorea, childhood-onset, with psychomotor retardation semapv:UnspecifiedMatching MONDO:0014839 chorea, childhood-onset, with psychomotor retardation skos:exactMatch UMLS:C4310787 semapv:UnspecifiedMatching MONDO:0014840 agammaglobulinemia 8, autosomal dominant skos:exactMatch DOID:0081140 agammaglobulinemia 8A semapv:UnspecifiedMatching MONDO:0014840 agammaglobulinemia 8, autosomal dominant skos:exactMatch MEDGEN:934753 semapv:UnspecifiedMatching MONDO:0014840 agammaglobulinemia 8, autosomal dominant skos:exactMatch OMIM:616941 agammaglobulinemia 8a, autosomal dominant semapv:UnspecifiedMatching MONDO:0014840 agammaglobulinemia 8, autosomal dominant skos:exactMatch UMLS:C4310786 semapv:UnspecifiedMatching MONDO:0014841 trichothiodystrophy 6, nonphotosensitive skos:exactMatch DOID:0111872 nonphotosensitive trichothiodystrophy 6 semapv:UnspecifiedMatching MONDO:0014841 trichothiodystrophy 6, nonphotosensitive skos:exactMatch MEDGEN:934752 semapv:UnspecifiedMatching MONDO:0014841 trichothiodystrophy 6, nonphotosensitive skos:exactMatch OMIM:616943 trichothiodystrophy 6, nonphotosensitive semapv:UnspecifiedMatching MONDO:0014841 trichothiodystrophy 6, nonphotosensitive skos:exactMatch UMLS:C4310785 semapv:UnspecifiedMatching MONDO:0014842 intellectual disability, autosomal dominant 41 skos:exactMatch DOID:0070071 autosomal dominant intellectual developmental disorder 41 semapv:UnspecifiedMatching MONDO:0014842 intellectual disability, autosomal dominant 41 skos:exactMatch MEDGEN:934751 semapv:UnspecifiedMatching MONDO:0014842 intellectual disability, autosomal dominant 41 skos:exactMatch OMIM:616944 intellectual developmental disorder, autosomal dominant 41 semapv:UnspecifiedMatching MONDO:0014842 intellectual disability, autosomal dominant 41 skos:exactMatch UMLS:C4310784 semapv:UnspecifiedMatching MONDO:0014843 premature ovarian failure 11 skos:exactMatch DOID:0080868 primary ovarian insufficiency 11 semapv:UnspecifiedMatching MONDO:0014843 premature ovarian failure 11 skos:exactMatch DOID:0080869 primary ovarian insufficiency 12 semapv:UnspecifiedMatching MONDO:0014843 premature ovarian failure 11 skos:exactMatch MEDGEN:934750 semapv:UnspecifiedMatching MONDO:0014843 premature ovarian failure 11 skos:exactMatch OMIM:616946 premature ovarian failure 11 semapv:UnspecifiedMatching MONDO:0014843 premature ovarian failure 11 skos:exactMatch UMLS:C4310783 semapv:UnspecifiedMatching MONDO:0014844 premature ovarian failure 12 skos:exactMatch MEDGEN:934749 semapv:UnspecifiedMatching MONDO:0014844 premature ovarian failure 12 skos:exactMatch OMIM:616947 premature ovarian failure 12 semapv:UnspecifiedMatching MONDO:0014844 premature ovarian failure 12 skos:exactMatch UMLS:C4310782 semapv:UnspecifiedMatching MONDO:0014845 spinocerebellar ataxia, autosomal recessive 22 skos:exactMatch DOID:0111614 autosomal recessive spinocerebellar ataxia 22 semapv:UnspecifiedMatching MONDO:0014845 spinocerebellar ataxia, autosomal recessive 22 skos:exactMatch MEDGEN:934748 semapv:UnspecifiedMatching MONDO:0014845 spinocerebellar ataxia, autosomal recessive 22 skos:exactMatch OMIM:616948 spinocerebellar ataxia, autosomal recessive 22 semapv:UnspecifiedMatching MONDO:0014845 spinocerebellar ataxia, autosomal recessive 22 skos:exactMatch UMLS:C4310781 semapv:UnspecifiedMatching MONDO:0014846 spinocerebellar ataxia, autosomal recessive 23 skos:exactMatch DOID:0111613 autosomal recessive spinocerebellar ataxia 23 semapv:UnspecifiedMatching MONDO:0014846 spinocerebellar ataxia, autosomal recessive 23 skos:exactMatch MEDGEN:1667331 semapv:UnspecifiedMatching MONDO:0014846 spinocerebellar ataxia, autosomal recessive 23 skos:exactMatch OMIM:616949 spinocerebellar ataxia, autosomal recessive 23 semapv:UnspecifiedMatching MONDO:0014846 spinocerebellar ataxia, autosomal recessive 23 skos:exactMatch Orphanet:404493 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency semapv:UnspecifiedMatching MONDO:0014846 spinocerebellar ataxia, autosomal recessive 23 skos:exactMatch UMLS:C4750914 semapv:UnspecifiedMatching MONDO:0014847 spermatogenic failure 15 skos:exactMatch DOID:0070172 spermatogenic failure 15 semapv:UnspecifiedMatching MONDO:0014847 spermatogenic failure 15 skos:exactMatch MEDGEN:934746 semapv:UnspecifiedMatching MONDO:0014847 spermatogenic failure 15 skos:exactMatch OMIM:616950 spermatogenic failure 15 semapv:UnspecifiedMatching MONDO:0014847 spermatogenic failure 15 skos:exactMatch UMLS:C4310779 semapv:UnspecifiedMatching MONDO:0014848 TELO2-related intellectual disability-neurodevelopmental disorder skos:exactMatch MEDGEN:934745 semapv:UnspecifiedMatching MONDO:0014848 TELO2-related intellectual disability-neurodevelopmental disorder skos:exactMatch OMIM:616954 you-hoover-fong syndrome semapv:UnspecifiedMatching MONDO:0014848 TELO2-related intellectual disability-neurodevelopmental disorder skos:exactMatch Orphanet:488642 TELO2-related intellectual disability-neurodevelopmental disorder semapv:UnspecifiedMatching MONDO:0014848 TELO2-related intellectual disability-neurodevelopmental disorder skos:exactMatch UMLS:C4310778 semapv:UnspecifiedMatching MONDO:0014849 obsolete autosomal recessive nonsyndromic deafness 105 skos:exactMatch OMIM:616958 semapv:UnspecifiedMatching MONDO:0014850 retinitis pigmentosa and erythrocytic microcytosis skos:exactMatch MEDGEN:934743 semapv:UnspecifiedMatching MONDO:0014850 retinitis pigmentosa and erythrocytic microcytosis skos:exactMatch OMIM:616959 retinitis pigmentosa and erythrocytic microcytosis semapv:UnspecifiedMatching MONDO:0014850 retinitis pigmentosa and erythrocytic microcytosis skos:exactMatch UMLS:C4310776 semapv:UnspecifiedMatching MONDO:0014851 hypercalcemia, infantile, 2 skos:exactMatch DOID:0061135 infantile hypercalcemia 2 semapv:UnspecifiedMatching MONDO:0014851 hypercalcemia, infantile, 2 skos:exactMatch MEDGEN:934441 semapv:UnspecifiedMatching MONDO:0014851 hypercalcemia, infantile, 2 skos:exactMatch OMIM:616963 hypercalcemia, infantile, 2 semapv:UnspecifiedMatching MONDO:0014851 hypercalcemia, infantile, 2 skos:exactMatch UMLS:C4310473 semapv:UnspecifiedMatching MONDO:0014853 autosomal dominant nonsyndromic hearing loss 70 skos:exactMatch DOID:0110592 autosomal dominant nonsyndromic deafness 70 semapv:UnspecifiedMatching MONDO:0014853 autosomal dominant nonsyndromic hearing loss 70 skos:exactMatch MEDGEN:934742 semapv:UnspecifiedMatching MONDO:0014853 autosomal dominant nonsyndromic hearing loss 70 skos:exactMatch OMIM:616968 deafness, autosomal dominant 70 semapv:UnspecifiedMatching MONDO:0014853 autosomal dominant nonsyndromic hearing loss 70 skos:exactMatch UMLS:C4310775 semapv:UnspecifiedMatching MONDO:0014854 autosomal dominant nonsyndromic hearing loss 66 skos:exactMatch DOID:0110587 autosomal dominant nonsyndromic deafness 66 semapv:UnspecifiedMatching MONDO:0014854 autosomal dominant nonsyndromic hearing loss 66 skos:exactMatch MEDGEN:924418 semapv:UnspecifiedMatching MONDO:0014854 autosomal dominant nonsyndromic hearing loss 66 skos:exactMatch OMIM:616969 deafness, autosomal dominant 66 semapv:UnspecifiedMatching MONDO:0014854 autosomal dominant nonsyndromic hearing loss 66 skos:exactMatch UMLS:C4283893 semapv:UnspecifiedMatching MONDO:0014855 intellectual disability, autosomal dominant 42 skos:exactMatch DOID:0070072 autosomal dominant intellectual developmental disorder 42 semapv:UnspecifiedMatching MONDO:0014855 intellectual disability, autosomal dominant 42 skos:exactMatch MEDGEN:934741 semapv:UnspecifiedMatching MONDO:0014855 intellectual disability, autosomal dominant 42 skos:exactMatch OMIM:616973 intellectual developmental disorder, autosomal dominant 42 semapv:UnspecifiedMatching MONDO:0014855 intellectual disability, autosomal dominant 42 skos:exactMatch Orphanet:488613 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0014855 intellectual disability, autosomal dominant 42 skos:exactMatch UMLS:C4310774 semapv:UnspecifiedMatching MONDO:0014856 combined oxidative phosphorylation defect type 30 skos:exactMatch DOID:0111471 combined oxidative phosphorylation deficiency 30 semapv:UnspecifiedMatching MONDO:0014856 combined oxidative phosphorylation defect type 30 skos:exactMatch MEDGEN:1799028 semapv:UnspecifiedMatching MONDO:0014856 combined oxidative phosphorylation defect type 30 skos:exactMatch OMIM:616974 combined oxidative phosphorylation deficiency 30 semapv:UnspecifiedMatching MONDO:0014856 combined oxidative phosphorylation defect type 30 skos:exactMatch Orphanet:478042 Combined oxidative phosphorylation defect type 30 semapv:UnspecifiedMatching MONDO:0014856 combined oxidative phosphorylation defect type 30 skos:exactMatch UMLS:C5567605 semapv:UnspecifiedMatching MONDO:0014857 neurodevelopmental disorder with or without anomalies of the brain, eye, or heart skos:exactMatch EFO:0009645 semapv:UnspecifiedMatching MONDO:0014857 neurodevelopmental disorder with or without anomalies of the brain, eye, or heart skos:exactMatch MEDGEN:1798900 semapv:UnspecifiedMatching MONDO:0014857 neurodevelopmental disorder with or without anomalies of the brain, eye, or heart skos:exactMatch OMIM:616975 neurodevelopmental disorder with or without anomalies of the brain, eye, or heart semapv:UnspecifiedMatching MONDO:0014857 neurodevelopmental disorder with or without anomalies of the brain, eye, or heart skos:exactMatch Orphanet:494344 RERE-related neurodevelopmental syndrome semapv:UnspecifiedMatching MONDO:0014857 neurodevelopmental disorder with or without anomalies of the brain, eye, or heart skos:exactMatch UMLS:C5567477 semapv:UnspecifiedMatching MONDO:0014858 intellectual disability, autosomal dominant 43 skos:exactMatch DOID:0070073 autosomal dominant intellectual developmental disorder 43 semapv:UnspecifiedMatching MONDO:0014858 intellectual disability, autosomal dominant 43 skos:exactMatch MEDGEN:1640004 semapv:UnspecifiedMatching MONDO:0014858 intellectual disability, autosomal dominant 43 skos:exactMatch OMIM:616977 intellectual developmental disorder, autosomal dominant 43 semapv:UnspecifiedMatching MONDO:0014858 intellectual disability, autosomal dominant 43 skos:exactMatch SCTID:765434008 semapv:UnspecifiedMatching MONDO:0014858 intellectual disability, autosomal dominant 43 skos:exactMatch UMLS:C4707429 semapv:UnspecifiedMatching MONDO:0014859 developmental and epileptic encephalopathy, 37 skos:exactMatch DOID:0080435 developmental and epileptic encephalopathy 37 semapv:UnspecifiedMatching MONDO:0014859 developmental and epileptic encephalopathy, 37 skos:exactMatch MEDGEN:934737 semapv:UnspecifiedMatching MONDO:0014859 developmental and epileptic encephalopathy, 37 skos:exactMatch OMIM:616981 developmental and epileptic encephalopathy 37 semapv:UnspecifiedMatching MONDO:0014859 developmental and epileptic encephalopathy, 37 skos:exactMatch UMLS:C4310770 semapv:UnspecifiedMatching MONDO:0014860 polycystic liver disease 2 skos:exactMatch DOID:0060975 polycystic liver disease 2 semapv:UnspecifiedMatching MONDO:0014860 polycystic liver disease 2 skos:exactMatch MEDGEN:934736 semapv:UnspecifiedMatching MONDO:0014860 polycystic liver disease 2 skos:exactMatch OMIM:617004 polycystic liver disease 2 with or without kidney cysts semapv:UnspecifiedMatching MONDO:0014860 polycystic liver disease 2 skos:exactMatch UMLS:C4310769 semapv:UnspecifiedMatching MONDO:0014861 autoimmune disease, multisystem, infantile-onset, 2 skos:exactMatch DOID:0061161 infantile onset multisystem autoimmune disease 2 semapv:UnspecifiedMatching MONDO:0014861 autoimmune disease, multisystem, infantile-onset, 2 skos:exactMatch MEDGEN:934735 semapv:UnspecifiedMatching MONDO:0014861 autoimmune disease, multisystem, infantile-onset, 2 skos:exactMatch OMIM:617006 autoimmune disease, multisystem, infantile-onset, 2 semapv:UnspecifiedMatching MONDO:0014861 autoimmune disease, multisystem, infantile-onset, 2 skos:exactMatch UMLS:C4310768 semapv:UnspecifiedMatching MONDO:0014862 cerebral palsy, spastic quadriplegic, 3 skos:exactMatch DOID:0081361 spastic quadriplegic cerebral palsy 3 semapv:UnspecifiedMatching MONDO:0014862 cerebral palsy, spastic quadriplegic, 3 skos:exactMatch MEDGEN:934734 semapv:UnspecifiedMatching MONDO:0014862 cerebral palsy, spastic quadriplegic, 3 skos:exactMatch OMIM:617008 cerebral palsy, spastic quadriplegic, 3 semapv:UnspecifiedMatching MONDO:0014862 cerebral palsy, spastic quadriplegic, 3 skos:exactMatch UMLS:C4310767 semapv:UnspecifiedMatching MONDO:0014863 macrocephaly, dysmorphic facies, and psychomotor retardation skos:exactMatch MEDGEN:934733 semapv:UnspecifiedMatching MONDO:0014863 macrocephaly, dysmorphic facies, and psychomotor retardation skos:exactMatch OMIM:617011 macrocephaly, dysmorphic facies, and psychomotor retardation semapv:UnspecifiedMatching MONDO:0014863 macrocephaly, dysmorphic facies, and psychomotor retardation skos:exactMatch UMLS:C4310766 semapv:UnspecifiedMatching MONDO:0014864 hypermanganesemia with dystonia 2 skos:exactMatch DOID:0080537 hypermanganesemia with dystonia 2 semapv:UnspecifiedMatching MONDO:0014864 hypermanganesemia with dystonia 2 skos:exactMatch MEDGEN:934732 semapv:UnspecifiedMatching MONDO:0014864 hypermanganesemia with dystonia 2 skos:exactMatch OMIM:617013 hypermanganesemia with dystonia 2 semapv:UnspecifiedMatching MONDO:0014864 hypermanganesemia with dystonia 2 skos:exactMatch Orphanet:521406 Dystonia-parkinsonism-hypermanganesemia syndrome semapv:UnspecifiedMatching MONDO:0014864 hypermanganesemia with dystonia 2 skos:exactMatch SCTID:768554008 semapv:UnspecifiedMatching MONDO:0014864 hypermanganesemia with dystonia 2 skos:exactMatch UMLS:C4310765 semapv:UnspecifiedMatching MONDO:0014865 autosomal recessive severe congenital neutropenia due to CSF3R deficiency skos:exactMatch DOID:0112129 severe congenital neutropenia 7 semapv:UnspecifiedMatching MONDO:0014865 autosomal recessive severe congenital neutropenia due to CSF3R deficiency skos:exactMatch MEDGEN:934731 semapv:UnspecifiedMatching MONDO:0014865 autosomal recessive severe congenital neutropenia due to CSF3R deficiency skos:exactMatch OMIM:617014 neutropenia, severe congenital, 7, autosomal recessive semapv:UnspecifiedMatching MONDO:0014865 autosomal recessive severe congenital neutropenia due to CSF3R deficiency skos:exactMatch Orphanet:420702 Autosomal recessive severe congenital neutropenia due to CSF3R deficiency semapv:UnspecifiedMatching MONDO:0014865 autosomal recessive severe congenital neutropenia due to CSF3R deficiency skos:exactMatch UMLS:C4310764 semapv:UnspecifiedMatching MONDO:0014866 Charcot-Marie-Tooth disease axonal type 2T skos:exactMatch DOID:0110160 Charcot-Marie-Tooth disease axonal type 2T semapv:UnspecifiedMatching MONDO:0014866 Charcot-Marie-Tooth disease axonal type 2T skos:exactMatch MEDGEN:864072 semapv:UnspecifiedMatching MONDO:0014866 Charcot-Marie-Tooth disease axonal type 2T skos:exactMatch OMIM:617017 charcot-marie-tooth disease, axonal, type 2t semapv:UnspecifiedMatching MONDO:0014866 Charcot-Marie-Tooth disease axonal type 2T skos:exactMatch Orphanet:443950 DNAJB2-related Charcot-Marie-Tooth disease type 2 semapv:UnspecifiedMatching MONDO:0014866 Charcot-Marie-Tooth disease axonal type 2T skos:exactMatch UMLS:C4015635 semapv:UnspecifiedMatching MONDO:0014867 spinocerebellar ataxia 43 skos:exactMatch DOID:0111745 cerebellar ataxia type 43 semapv:UnspecifiedMatching MONDO:0014867 spinocerebellar ataxia 43 skos:exactMatch MEDGEN:934730 semapv:UnspecifiedMatching MONDO:0014867 spinocerebellar ataxia 43 skos:exactMatch OMIM:617018 spinocerebellar ataxia 43 semapv:UnspecifiedMatching MONDO:0014867 spinocerebellar ataxia 43 skos:exactMatch Orphanet:497764 Spinocerebellar ataxia type 43 semapv:UnspecifiedMatching MONDO:0014867 spinocerebellar ataxia 43 skos:exactMatch UMLS:C4310763 semapv:UnspecifiedMatching MONDO:0014868 developmental and epileptic encephalopathy, 38 skos:exactMatch DOID:0080417 developmental and epileptic encephalopathy 38 semapv:UnspecifiedMatching MONDO:0014868 developmental and epileptic encephalopathy, 38 skos:exactMatch MEDGEN:934729 semapv:UnspecifiedMatching MONDO:0014868 developmental and epileptic encephalopathy, 38 skos:exactMatch OMIM:617020 developmental and epileptic encephalopathy 38 semapv:UnspecifiedMatching MONDO:0014868 developmental and epileptic encephalopathy, 38 skos:exactMatch UMLS:C4310762 semapv:UnspecifiedMatching MONDO:0014869 hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome skos:exactMatch MEDGEN:934728 semapv:UnspecifiedMatching MONDO:0014869 hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome skos:exactMatch OMIM:617021 hydrops, lactic acidosis, and sideroblastic anemia semapv:UnspecifiedMatching MONDO:0014869 hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome skos:exactMatch Orphanet:528091 Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome semapv:UnspecifiedMatching MONDO:0014869 hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome skos:exactMatch UMLS:C4310761 semapv:UnspecifiedMatching MONDO:0014870 NEK9-related lethal skeletal dysplasia skos:exactMatch MEDGEN:1799564 semapv:UnspecifiedMatching MONDO:0014870 NEK9-related lethal skeletal dysplasia skos:exactMatch OMIM:617022 lethal congenital contracture syndrome 10 semapv:UnspecifiedMatching MONDO:0014870 NEK9-related lethal skeletal dysplasia skos:exactMatch Orphanet:464366 NEK9-related lethal skeletal dysplasia semapv:UnspecifiedMatching MONDO:0014870 NEK9-related lethal skeletal dysplasia skos:exactMatch UMLS:C5568141 semapv:UnspecifiedMatching MONDO:0014871 retinitis pigmentosa 75 skos:exactMatch DOID:0110361 retinitis pigmentosa 75 semapv:UnspecifiedMatching MONDO:0014871 retinitis pigmentosa 75 skos:exactMatch MEDGEN:934726 semapv:UnspecifiedMatching MONDO:0014871 retinitis pigmentosa 75 skos:exactMatch OMIM:617023 retinitis pigmentosa 75 semapv:UnspecifiedMatching MONDO:0014871 retinitis pigmentosa 75 skos:exactMatch UMLS:C4310759 semapv:UnspecifiedMatching MONDO:0014872 congenital stationary night blindness 1H skos:exactMatch DOID:0110866 congenital stationary night blindness 1H semapv:UnspecifiedMatching MONDO:0014872 congenital stationary night blindness 1H skos:exactMatch MEDGEN:934725 semapv:UnspecifiedMatching MONDO:0014872 congenital stationary night blindness 1H skos:exactMatch OMIM:617024 night blindness, congenital stationary, type 1h semapv:UnspecifiedMatching MONDO:0014872 congenital stationary night blindness 1H skos:exactMatch UMLS:C4310758 semapv:UnspecifiedMatching MONDO:0014873 nevus comedonicus syndrome skos:exactMatch MEDGEN:75592 semapv:UnspecifiedMatching MONDO:0014873 nevus comedonicus syndrome skos:exactMatch NCIT:C3946 Nevus Comedonicus semapv:UnspecifiedMatching MONDO:0014873 nevus comedonicus syndrome skos:exactMatch OMIM:617025 nevus comedonicus semapv:UnspecifiedMatching MONDO:0014873 nevus comedonicus syndrome skos:exactMatch Orphanet:64754 Nevus comedonicus syndrome semapv:UnspecifiedMatching MONDO:0014873 nevus comedonicus syndrome skos:exactMatch SCTID:35962006 semapv:UnspecifiedMatching MONDO:0014873 nevus comedonicus syndrome skos:exactMatch UMLS:C0265987 semapv:UnspecifiedMatching MONDO:0014874 pontocerebellar hypoplasia, type 2F skos:exactMatch DOID:0112329 pontocerebellar hypoplasia type 2F semapv:UnspecifiedMatching MONDO:0014874 pontocerebellar hypoplasia, type 2F skos:exactMatch MEDGEN:934724 semapv:UnspecifiedMatching MONDO:0014874 pontocerebellar hypoplasia, type 2F skos:exactMatch OMIM:617026 pontocerebellar hypoplasia, type 2f semapv:UnspecifiedMatching MONDO:0014874 pontocerebellar hypoplasia, type 2F skos:exactMatch UMLS:C4310757 semapv:UnspecifiedMatching MONDO:0014875 hyperaldosteronism, familial, type IV skos:exactMatch MEDGEN:934723 semapv:UnspecifiedMatching MONDO:0014875 hyperaldosteronism, familial, type IV skos:exactMatch OMIM:617027 hyperaldosteronism, familial, type 4 semapv:UnspecifiedMatching MONDO:0014875 hyperaldosteronism, familial, type IV skos:exactMatch Orphanet:642671 Familial hyperaldosteronism type IV semapv:UnspecifiedMatching MONDO:0014875 hyperaldosteronism, familial, type IV skos:exactMatch UMLS:C4310756 semapv:UnspecifiedMatching MONDO:0014876 intellectual disability, autosomal recessive 54 skos:exactMatch DOID:0081216 autosomal recessive intellectual developmental disorder 54 semapv:UnspecifiedMatching MONDO:0014876 intellectual disability, autosomal recessive 54 skos:exactMatch MEDGEN:934722 semapv:UnspecifiedMatching MONDO:0014876 intellectual disability, autosomal recessive 54 skos:exactMatch OMIM:617028 intellectual developmental disorder, autosomal recessive 54 semapv:UnspecifiedMatching MONDO:0014876 intellectual disability, autosomal recessive 54 skos:exactMatch UMLS:C4310755 semapv:UnspecifiedMatching MONDO:0014877 myopathy, distal, 5 skos:exactMatch MEDGEN:1798944 semapv:UnspecifiedMatching MONDO:0014877 myopathy, distal, 5 skos:exactMatch OMIM:617030 myopathy, distal, 5 semapv:UnspecifiedMatching MONDO:0014877 myopathy, distal, 5 skos:exactMatch Orphanet:482601 Adenylosuccinate synthetase-like 1-related distal myopathy semapv:UnspecifiedMatching MONDO:0014877 myopathy, distal, 5 skos:exactMatch UMLS:C5567521 semapv:UnspecifiedMatching MONDO:0014878 patent ductus arteriosus 2 skos:exactMatch MEDGEN:924886 semapv:UnspecifiedMatching MONDO:0014878 patent ductus arteriosus 2 skos:exactMatch OMIM:617035 patent ductus arteriosus 2 semapv:UnspecifiedMatching MONDO:0014878 patent ductus arteriosus 2 skos:exactMatch UMLS:C4284595 semapv:UnspecifiedMatching MONDO:0014880 Duane retraction syndrome 3 with or without deafness skos:exactMatch DOID:0061029 Duane retraction syndrome 3 semapv:UnspecifiedMatching MONDO:0014880 Duane retraction syndrome 3 with or without deafness skos:exactMatch MEDGEN:934719 semapv:UnspecifiedMatching MONDO:0014880 Duane retraction syndrome 3 with or without deafness skos:exactMatch OMIM:617041 duane retraction syndrome 3 with or without deafness semapv:UnspecifiedMatching MONDO:0014880 Duane retraction syndrome 3 with or without deafness skos:exactMatch UMLS:C4310752 semapv:UnspecifiedMatching MONDO:0014881 transketolase deficiency skos:exactMatch MEDGEN:1814561 semapv:UnspecifiedMatching MONDO:0014881 transketolase deficiency skos:exactMatch OMIM:617044 short stature, developmental delay, and congenital heart defects semapv:UnspecifiedMatching MONDO:0014881 transketolase deficiency skos:exactMatch Orphanet:488618 Transketolase deficiency semapv:UnspecifiedMatching MONDO:0014881 transketolase deficiency skos:exactMatch UMLS:C5700245 semapv:UnspecifiedMatching MONDO:0014882 hereditary spastic paraplegia 77 skos:exactMatch DOID:0110822 hereditary spastic paraplegia 77 semapv:UnspecifiedMatching MONDO:0014882 hereditary spastic paraplegia 77 skos:exactMatch MEDGEN:1800430 semapv:UnspecifiedMatching MONDO:0014882 hereditary spastic paraplegia 77 skos:exactMatch OMIM:617046 spastic paraplegia 77, autosomal recessive semapv:UnspecifiedMatching MONDO:0014882 hereditary spastic paraplegia 77 skos:exactMatch Orphanet:466722 Autosomal recessive spastic paraplegia type 77 semapv:UnspecifiedMatching MONDO:0014882 hereditary spastic paraplegia 77 skos:exactMatch UMLS:C5569007 semapv:UnspecifiedMatching MONDO:0014883 hypertrophic cardiomyopathy 26 skos:exactMatch DOID:0110327 hypertrophic cardiomyopathy 26 semapv:UnspecifiedMatching MONDO:0014883 hypertrophic cardiomyopathy 26 skos:exactMatch MEDGEN:934716 semapv:UnspecifiedMatching MONDO:0014883 hypertrophic cardiomyopathy 26 skos:exactMatch OMIM:617047 cardiomyopathy, familial hypertrophic, 26 semapv:UnspecifiedMatching MONDO:0014883 hypertrophic cardiomyopathy 26 skos:exactMatch UMLS:C4310749 semapv:UnspecifiedMatching MONDO:0014884 cholestasis, progressive familial intrahepatic, 5 skos:exactMatch DOID:0070225 progressive familial intrahepatic cholestasis 5 semapv:UnspecifiedMatching MONDO:0014884 cholestasis, progressive familial intrahepatic, 5 skos:exactMatch MEDGEN:934714 semapv:UnspecifiedMatching MONDO:0014884 cholestasis, progressive familial intrahepatic, 5 skos:exactMatch OMIM:617049 cholestasis, progressive familial intrahepatic, 5 semapv:UnspecifiedMatching MONDO:0014884 cholestasis, progressive familial intrahepatic, 5 skos:exactMatch Orphanet:480476 Progressive familial intrahepatic cholestasis type 5 semapv:UnspecifiedMatching MONDO:0014884 cholestasis, progressive familial intrahepatic, 5 skos:exactMatch UMLS:C4310747 semapv:UnspecifiedMatching MONDO:0014885 Hermansky-Pudlak syndrome 10 skos:exactMatch MEDGEN:934713 semapv:UnspecifiedMatching MONDO:0014885 Hermansky-Pudlak syndrome 10 skos:exactMatch OMIM:617050 hermansky-pudlak syndrome 10 semapv:UnspecifiedMatching MONDO:0014885 Hermansky-Pudlak syndrome 10 skos:exactMatch Orphanet:664511 Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency semapv:UnspecifiedMatching MONDO:0014885 Hermansky-Pudlak syndrome 10 skos:exactMatch UMLS:C4310746 semapv:UnspecifiedMatching MONDO:0014886 severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome skos:exactMatch MEDGEN:934712 semapv:UnspecifiedMatching MONDO:0014886 severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome skos:exactMatch OMIM:617051 neurodevelopmental disorder with microcephaly and gray sclerae semapv:UnspecifiedMatching MONDO:0014886 severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome skos:exactMatch Orphanet:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0014886 severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome skos:exactMatch UMLS:C4310745 semapv:UnspecifiedMatching MONDO:0014887 bone marrow failure syndrome 3 skos:exactMatch MEDGEN:934711 semapv:UnspecifiedMatching MONDO:0014887 bone marrow failure syndrome 3 skos:exactMatch OMIM:617052 bone marrow failure syndrome 3 semapv:UnspecifiedMatching MONDO:0014887 bone marrow failure syndrome 3 skos:exactMatch UMLS:C4310744 semapv:UnspecifiedMatching MONDO:0014888 MIRAGE syndrome skos:exactMatch MEDGEN:924576 semapv:UnspecifiedMatching MONDO:0014888 MIRAGE syndrome skos:exactMatch NCIT:C147530 MIRAGE Syndrome semapv:UnspecifiedMatching MONDO:0014888 MIRAGE syndrome skos:exactMatch OMIM:617053 MIRAGE syndrome semapv:UnspecifiedMatching MONDO:0014888 MIRAGE syndrome skos:exactMatch Orphanet:494433 MIRAGE syndrome semapv:UnspecifiedMatching MONDO:0014888 MIRAGE syndrome skos:exactMatch UMLS:C4284088 semapv:UnspecifiedMatching MONDO:0014889 striatonigral degeneration, childhood-onset skos:exactMatch MEDGEN:934710 semapv:UnspecifiedMatching MONDO:0014889 striatonigral degeneration, childhood-onset skos:exactMatch OMIM:617054 striatonigral degeneration, childhood-onset semapv:UnspecifiedMatching MONDO:0014889 striatonigral degeneration, childhood-onset skos:exactMatch Orphanet:497906 Childhood-onset basal ganglia degeneration syndrome semapv:UnspecifiedMatching MONDO:0014889 striatonigral degeneration, childhood-onset skos:exactMatch UMLS:C4310743 semapv:UnspecifiedMatching MONDO:0014890 PERCHING syndrome skos:exactMatch DOID:0080331 cold-induced sweating syndrome 3 semapv:UnspecifiedMatching MONDO:0014890 PERCHING syndrome skos:exactMatch MEDGEN:934709 semapv:UnspecifiedMatching MONDO:0014890 PERCHING syndrome skos:exactMatch OMIM:617055 PERCHING syndrome semapv:UnspecifiedMatching MONDO:0014890 PERCHING syndrome skos:exactMatch Orphanet:603684 KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome semapv:UnspecifiedMatching MONDO:0014890 PERCHING syndrome skos:exactMatch UMLS:C4310742 semapv:UnspecifiedMatching MONDO:0014891 hyperuricemic nephropathy, familial juvenile type 4 skos:exactMatch DOID:0061120 autosomal dominant tubulointerstitial kidney disease 5 semapv:UnspecifiedMatching MONDO:0014891 hyperuricemic nephropathy, familial juvenile type 4 skos:exactMatch MEDGEN:934708 semapv:UnspecifiedMatching MONDO:0014891 hyperuricemic nephropathy, familial juvenile type 4 skos:exactMatch OMIM:617056 tubulointerstitial kidney disease, autosomal dominant 5 semapv:UnspecifiedMatching MONDO:0014891 hyperuricemic nephropathy, familial juvenile type 4 skos:exactMatch UMLS:C4310741 semapv:UnspecifiedMatching MONDO:0014892 micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome skos:exactMatch DOID:0070074 autosomal dominant intellectual developmental disorder 44 semapv:UnspecifiedMatching MONDO:0014892 micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome skos:exactMatch MEDGEN:934707 semapv:UnspecifiedMatching MONDO:0014892 micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome skos:exactMatch OMIM:617061 intellectual developmental disorder, autosomal dominant 44, with microcephaly semapv:UnspecifiedMatching MONDO:0014892 micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome skos:exactMatch Orphanet:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0014892 micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome skos:exactMatch UMLS:C4310740 semapv:UnspecifiedMatching MONDO:0014893 Okur-Chung neurodevelopmental syndrome skos:exactMatch MEDGEN:934706 semapv:UnspecifiedMatching MONDO:0014893 Okur-Chung neurodevelopmental syndrome skos:exactMatch OMIM:617062 okur-chung neurodevelopmental syndrome semapv:UnspecifiedMatching MONDO:0014893 Okur-Chung neurodevelopmental syndrome skos:exactMatch Orphanet:689422 Okur-Chung neurodevelopmental syndrome semapv:UnspecifiedMatching MONDO:0014893 Okur-Chung neurodevelopmental syndrome skos:exactMatch UMLS:C4310739 semapv:UnspecifiedMatching MONDO:0014894 Meier-Gorlin syndrome 7 skos:exactMatch DOID:0080518 Meier-Gorlin syndrome 7 semapv:UnspecifiedMatching MONDO:0014894 Meier-Gorlin syndrome 7 skos:exactMatch MEDGEN:934705 semapv:UnspecifiedMatching MONDO:0014894 Meier-Gorlin syndrome 7 skos:exactMatch OMIM:617063 meier-gorlin syndrome 7 semapv:UnspecifiedMatching MONDO:0014894 Meier-Gorlin syndrome 7 skos:exactMatch UMLS:C4310738 semapv:UnspecifiedMatching MONDO:0014895 developmental and epileptic encephalopathy, 40 skos:exactMatch DOID:0080427 developmental and epileptic encephalopathy 40 semapv:UnspecifiedMatching MONDO:0014895 developmental and epileptic encephalopathy, 40 skos:exactMatch MEDGEN:934704 semapv:UnspecifiedMatching MONDO:0014895 developmental and epileptic encephalopathy, 40 skos:exactMatch OMIM:617065 developmental and epileptic encephalopathy 40 semapv:UnspecifiedMatching MONDO:0014895 developmental and epileptic encephalopathy, 40 skos:exactMatch UMLS:C4310737 semapv:UnspecifiedMatching MONDO:0014896 congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome skos:exactMatch MEDGEN:934703 semapv:UnspecifiedMatching MONDO:0014896 congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome skos:exactMatch OMIM:617066 muscular dystrophy, congenital, davignon-chauveau type semapv:UnspecifiedMatching MONDO:0014896 congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome skos:exactMatch Orphanet:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome semapv:UnspecifiedMatching MONDO:0014896 congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome skos:exactMatch UMLS:C4310736 semapv:UnspecifiedMatching MONDO:0014898 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 skos:exactMatch DOID:0111523 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3 semapv:UnspecifiedMatching MONDO:0014898 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 skos:exactMatch MEDGEN:934701 semapv:UnspecifiedMatching MONDO:0014898 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 skos:exactMatch OMIM:617069 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 semapv:UnspecifiedMatching MONDO:0014898 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 skos:exactMatch UMLS:C4310734 semapv:UnspecifiedMatching MONDO:0014899 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 skos:exactMatch DOID:0111516 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4 semapv:UnspecifiedMatching MONDO:0014899 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 skos:exactMatch MEDGEN:934700 semapv:UnspecifiedMatching MONDO:0014899 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 skos:exactMatch OMIM:617070 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 semapv:UnspecifiedMatching MONDO:0014899 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 skos:exactMatch Orphanet:329314 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency semapv:UnspecifiedMatching MONDO:0014899 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 skos:exactMatch SCTID:733599009 semapv:UnspecifiedMatching MONDO:0014899 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 skos:exactMatch UMLS:C4310733 semapv:UnspecifiedMatching MONDO:0014900 autosomal recessive limb-girdle muscular dystrophy type 2Y skos:exactMatch DOID:0110289 autosomal recessive limb-girdle muscular dystrophy type 2Y semapv:UnspecifiedMatching MONDO:0014900 autosomal recessive limb-girdle muscular dystrophy type 2Y skos:exactMatch MEDGEN:1385152 semapv:UnspecifiedMatching MONDO:0014900 autosomal recessive limb-girdle muscular dystrophy type 2Y skos:exactMatch NCIT:C181000 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2Y semapv:UnspecifiedMatching MONDO:0014900 autosomal recessive limb-girdle muscular dystrophy type 2Y skos:exactMatch OMIM:617072 myopathy, autosomal recessive, with rigid spine and distal joint contractures semapv:UnspecifiedMatching MONDO:0014900 autosomal recessive limb-girdle muscular dystrophy type 2Y skos:exactMatch Orphanet:424261 TOR1AIP1-related limb-girdle muscular dystrophy semapv:UnspecifiedMatching MONDO:0014900 autosomal recessive limb-girdle muscular dystrophy type 2Y skos:exactMatch SCTID:725907002 semapv:UnspecifiedMatching MONDO:0014900 autosomal recessive limb-girdle muscular dystrophy type 2Y skos:exactMatch UMLS:C4511482 semapv:UnspecifiedMatching MONDO:0014901 tooth agenesis, selective, 8 skos:exactMatch MEDGEN:934697 semapv:UnspecifiedMatching MONDO:0014901 tooth agenesis, selective, 8 skos:exactMatch OMIM:617073 tooth agenesis, selective, 8 semapv:UnspecifiedMatching MONDO:0014901 tooth agenesis, selective, 8 skos:exactMatch UMLS:C4310730 semapv:UnspecifiedMatching MONDO:0014902 nasopharyngeal carcinoma, susceptibility to, 3 skos:exactMatch MEDGEN:934696 semapv:UnspecifiedMatching MONDO:0014902 nasopharyngeal carcinoma, susceptibility to, 3 skos:exactMatch OMIM:617075 nasopharyngeal carcinoma, susceptibility to, 3 semapv:UnspecifiedMatching MONDO:0014902 nasopharyngeal carcinoma, susceptibility to, 3 skos:exactMatch UMLS:C4310729 semapv:UnspecifiedMatching MONDO:0014903 seizures, benign familial infantile, 5 skos:exactMatch DOID:0081118 benign familial infantile seizures 5 semapv:UnspecifiedMatching MONDO:0014903 seizures, benign familial infantile, 5 skos:exactMatch MEDGEN:934695 semapv:UnspecifiedMatching MONDO:0014903 seizures, benign familial infantile, 5 skos:exactMatch OMIM:617080 seizures, benign familial infantile, 5 semapv:UnspecifiedMatching MONDO:0014903 seizures, benign familial infantile, 5 skos:exactMatch UMLS:C4310728 semapv:UnspecifiedMatching MONDO:0014904 congenital disorder of glycosylation, type IAA skos:exactMatch DOID:0080553 congenital disorder of glycosylation Iaa semapv:UnspecifiedMatching MONDO:0014904 congenital disorder of glycosylation, type IAA skos:exactMatch MEDGEN:934694 semapv:UnspecifiedMatching MONDO:0014904 congenital disorder of glycosylation, type IAA skos:exactMatch OMIM:617082 congenital disorder of glycosylation, type iaa semapv:UnspecifiedMatching MONDO:0014904 congenital disorder of glycosylation, type IAA skos:exactMatch UMLS:C4310727 semapv:UnspecifiedMatching MONDO:0014905 encephalopathy due to defective mitochondrial and peroxisomal fission 2 skos:exactMatch DOID:0060994 encephalopathy due to defective mitochondrial and peroxisomal fission 2 semapv:UnspecifiedMatching MONDO:0014905 encephalopathy due to defective mitochondrial and peroxisomal fission 2 skos:exactMatch MEDGEN:934693 semapv:UnspecifiedMatching MONDO:0014905 encephalopathy due to defective mitochondrial and peroxisomal fission 2 skos:exactMatch OMIM:617086 encephalopathy due to defective mitochondrial and peroxisomal fission 2 semapv:UnspecifiedMatching MONDO:0014905 encephalopathy due to defective mitochondrial and peroxisomal fission 2 skos:exactMatch Orphanet:485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect semapv:UnspecifiedMatching MONDO:0014905 encephalopathy due to defective mitochondrial and peroxisomal fission 2 skos:exactMatch UMLS:C4310726 semapv:UnspecifiedMatching MONDO:0014906 Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; skos:exactMatch DOID:0111557 Charcot-Marie-Tooth disease type 2A2B semapv:UnspecifiedMatching MONDO:0014906 Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; skos:exactMatch MEDGEN:934692 semapv:UnspecifiedMatching MONDO:0014906 Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; skos:exactMatch NCIT:C150647 Charcot-Marie-Tooth Disease Type 2A2B semapv:UnspecifiedMatching MONDO:0014906 Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; skos:exactMatch OMIM:617087 charcot-marie-tooth disease, axonal, autosomal recessive, type 2a2b semapv:UnspecifiedMatching MONDO:0014906 Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; skos:exactMatch UMLS:C4310725 semapv:UnspecifiedMatching MONDO:0014907 short-rib thoracic dysplasia 15 with polydactyly skos:exactMatch MEDGEN:934691 semapv:UnspecifiedMatching MONDO:0014907 short-rib thoracic dysplasia 15 with polydactyly skos:exactMatch OMIM:617088 short-rib thoracic dysplasia 15 with polydactyly semapv:UnspecifiedMatching MONDO:0014907 short-rib thoracic dysplasia 15 with polydactyly skos:exactMatch UMLS:C4310724 semapv:UnspecifiedMatching MONDO:0014908 microcephaly 17, primary, autosomal recessive skos:exactMatch DOID:0070288 primary autosomal recessive microcephaly 17 semapv:UnspecifiedMatching MONDO:0014908 microcephaly 17, primary, autosomal recessive skos:exactMatch MEDGEN:934690 semapv:UnspecifiedMatching MONDO:0014908 microcephaly 17, primary, autosomal recessive skos:exactMatch OMIM:617090 microcephaly 17, primary, autosomal recessive semapv:UnspecifiedMatching MONDO:0014908 microcephaly 17, primary, autosomal recessive skos:exactMatch UMLS:C4310723 semapv:UnspecifiedMatching MONDO:0014909 primary ciliary dyskinesia 34 skos:exactMatch DOID:0110610 primary ciliary dyskinesia 34 semapv:UnspecifiedMatching MONDO:0014909 primary ciliary dyskinesia 34 skos:exactMatch MEDGEN:934689 semapv:UnspecifiedMatching MONDO:0014909 primary ciliary dyskinesia 34 skos:exactMatch OMIM:617091 ciliary dyskinesia, primary, 34 semapv:UnspecifiedMatching MONDO:0014909 primary ciliary dyskinesia 34 skos:exactMatch UMLS:C4310722 semapv:UnspecifiedMatching MONDO:0014910 primary ciliary dyskinesia 35 skos:exactMatch DOID:0110620 primary ciliary dyskinesia 35 semapv:UnspecifiedMatching MONDO:0014910 primary ciliary dyskinesia 35 skos:exactMatch MEDGEN:934688 semapv:UnspecifiedMatching MONDO:0014910 primary ciliary dyskinesia 35 skos:exactMatch OMIM:617092 ciliary dyskinesia, primary, 35 semapv:UnspecifiedMatching MONDO:0014910 primary ciliary dyskinesia 35 skos:exactMatch UMLS:C4310721 semapv:UnspecifiedMatching MONDO:0014911 growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy skos:exactMatch MEDGEN:934687 semapv:UnspecifiedMatching MONDO:0014911 growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy skos:exactMatch OMIM:617093 growth retardation, impaired intellectual development, hypotonia, and hepatopathy semapv:UnspecifiedMatching MONDO:0014911 growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy skos:exactMatch Orphanet:541423 Growth delay-intellectual disability-hepatopathy syndrome semapv:UnspecifiedMatching MONDO:0014911 growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy skos:exactMatch UMLS:C4310720 semapv:UnspecifiedMatching MONDO:0014912 autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive skos:exactMatch DOID:0080163 autosomal recessive autoinflammation, panniculitis, and dermatosis syndrome semapv:UnspecifiedMatching MONDO:0014912 autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive skos:exactMatch MEDGEN:934581 semapv:UnspecifiedMatching MONDO:0014912 autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive skos:exactMatch OMIM:617099 autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive semapv:UnspecifiedMatching MONDO:0014912 autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive skos:exactMatch Orphanet:500062 Infantile-onset periodic fever-panniculitis-dermatosis syndrome semapv:UnspecifiedMatching MONDO:0014912 autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive skos:exactMatch SCTID:765435009 semapv:UnspecifiedMatching MONDO:0014912 autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive skos:exactMatch UMLS:C4310614 semapv:UnspecifiedMatching MONDO:0014914 Dias-Logan syndrome skos:exactMatch MEDGEN:934800 semapv:UnspecifiedMatching MONDO:0014914 Dias-Logan syndrome skos:exactMatch OMIM:617101 intellectual developmental disorder with persistence of fetal hemoglobin semapv:UnspecifiedMatching MONDO:0014914 Dias-Logan syndrome skos:exactMatch UMLS:C4310833 semapv:UnspecifiedMatching MONDO:0014915 short-rib thoracic dysplasia 16 with or without polydactyly skos:exactMatch MEDGEN:934685 semapv:UnspecifiedMatching MONDO:0014915 short-rib thoracic dysplasia 16 with or without polydactyly skos:exactMatch OMIM:617102 short-rib thoracic dysplasia 16 with or without polydactyly semapv:UnspecifiedMatching MONDO:0014915 short-rib thoracic dysplasia 16 with or without polydactyly skos:exactMatch UMLS:C4310718 semapv:UnspecifiedMatching MONDO:0014916 developmental and epileptic encephalopathy, 41 skos:exactMatch DOID:0080442 developmental and epileptic encephalopathy 41 semapv:UnspecifiedMatching MONDO:0014916 developmental and epileptic encephalopathy, 41 skos:exactMatch MEDGEN:934684 semapv:UnspecifiedMatching MONDO:0014916 developmental and epileptic encephalopathy, 41 skos:exactMatch OMIM:617105 developmental and epileptic encephalopathy 41 semapv:UnspecifiedMatching MONDO:0014916 developmental and epileptic encephalopathy, 41 skos:exactMatch UMLS:C4310717 semapv:UnspecifiedMatching MONDO:0014917 developmental and epileptic encephalopathy, 42 skos:exactMatch DOID:0080454 developmental and epileptic encephalopathy 42 semapv:UnspecifiedMatching MONDO:0014917 developmental and epileptic encephalopathy, 42 skos:exactMatch MEDGEN:934683 semapv:UnspecifiedMatching MONDO:0014917 developmental and epileptic encephalopathy, 42 skos:exactMatch OMIM:617106 developmental and epileptic encephalopathy 42 semapv:UnspecifiedMatching MONDO:0014917 developmental and epileptic encephalopathy, 42 skos:exactMatch UMLS:C4310716 semapv:UnspecifiedMatching MONDO:0014918 tall stature-intellectual disability-renal anomalies syndrome skos:exactMatch MEDGEN:934682 semapv:UnspecifiedMatching MONDO:0014918 tall stature-intellectual disability-renal anomalies syndrome skos:exactMatch OMIM:617107 thauvin-robinet-faivre syndrome semapv:UnspecifiedMatching MONDO:0014918 tall stature-intellectual disability-renal anomalies syndrome skos:exactMatch Orphanet:500095 Tall stature-intellectual disability-renal anomalies syndrome semapv:UnspecifiedMatching MONDO:0014918 tall stature-intellectual disability-renal anomalies syndrome skos:exactMatch UMLS:C4310715 semapv:UnspecifiedMatching MONDO:0014919 sessile serrated polyposis cancer syndrome skos:exactMatch MEDGEN:934681 semapv:UnspecifiedMatching MONDO:0014919 sessile serrated polyposis cancer syndrome skos:exactMatch OMIM:617108 sessile serrated polyposis cancer syndrome semapv:UnspecifiedMatching MONDO:0014919 sessile serrated polyposis cancer syndrome skos:exactMatch UMLS:C4310714 semapv:UnspecifiedMatching MONDO:0014920 patterned macular dystrophy 3 skos:exactMatch DOID:0060865 patterned macular dystrophy 3 semapv:UnspecifiedMatching MONDO:0014920 patterned macular dystrophy 3 skos:exactMatch MEDGEN:934680 semapv:UnspecifiedMatching MONDO:0014920 patterned macular dystrophy 3 skos:exactMatch OMIM:617111 macular dystrophy, patterned, 3 semapv:UnspecifiedMatching MONDO:0014920 patterned macular dystrophy 3 skos:exactMatch Orphanet:466718 Martinique crinkled retinal pigment epitheliopathy semapv:UnspecifiedMatching MONDO:0014920 patterned macular dystrophy 3 skos:exactMatch UMLS:C4310713 semapv:UnspecifiedMatching MONDO:0014921 developmental and epileptic encephalopathy, 43 skos:exactMatch DOID:0080447 developmental and epileptic encephalopathy 43 semapv:UnspecifiedMatching MONDO:0014921 developmental and epileptic encephalopathy, 43 skos:exactMatch MEDGEN:934679 semapv:UnspecifiedMatching MONDO:0014921 developmental and epileptic encephalopathy, 43 skos:exactMatch OMIM:617113 developmental and epileptic encephalopathy 43 semapv:UnspecifiedMatching MONDO:0014921 developmental and epileptic encephalopathy, 43 skos:exactMatch UMLS:C4310712 semapv:UnspecifiedMatching MONDO:0014922 myofibrillar myopathy 7 skos:exactMatch DOID:0080098 myofibrillar myopathy 7 semapv:UnspecifiedMatching MONDO:0014922 myofibrillar myopathy 7 skos:exactMatch MEDGEN:934678 semapv:UnspecifiedMatching MONDO:0014922 myofibrillar myopathy 7 skos:exactMatch OMIM:617114 myopathy, myofibrillar, 7 semapv:UnspecifiedMatching MONDO:0014922 myofibrillar myopathy 7 skos:exactMatch UMLS:C4310711 semapv:UnspecifiedMatching MONDO:0014923 peeling skin syndrome 5 skos:exactMatch DOID:0070524 peeling skin syndrome 5 semapv:UnspecifiedMatching MONDO:0014923 peeling skin syndrome 5 skos:exactMatch MEDGEN:934677 semapv:UnspecifiedMatching MONDO:0014923 peeling skin syndrome 5 skos:exactMatch OMIM:617115 peeling skin syndrome 5 semapv:UnspecifiedMatching MONDO:0014923 peeling skin syndrome 5 skos:exactMatch UMLS:C4310710 semapv:UnspecifiedMatching MONDO:0014924 epilepsy, familial focal, with variable foci 2 skos:exactMatch DOID:0081422 familial focal epilepsy with variable foci 2 semapv:UnspecifiedMatching MONDO:0014924 epilepsy, familial focal, with variable foci 2 skos:exactMatch MEDGEN:934676 semapv:UnspecifiedMatching MONDO:0014924 epilepsy, familial focal, with variable foci 2 skos:exactMatch OMIM:617116 epilepsy, familial focal, with variable foci 2 semapv:UnspecifiedMatching MONDO:0014924 epilepsy, familial focal, with variable foci 2 skos:exactMatch UMLS:C4310709 semapv:UnspecifiedMatching MONDO:0014925 epilepsy, familial focal, with variable foci 3 skos:exactMatch DOID:0081423 familial focal epilepsy with variable foci 3 semapv:UnspecifiedMatching MONDO:0014925 epilepsy, familial focal, with variable foci 3 skos:exactMatch MEDGEN:934675 semapv:UnspecifiedMatching MONDO:0014925 epilepsy, familial focal, with variable foci 3 skos:exactMatch OMIM:617118 epilepsy, familial focal, with variable foci 3 semapv:UnspecifiedMatching MONDO:0014925 epilepsy, familial focal, with variable foci 3 skos:exactMatch UMLS:C4310708 semapv:UnspecifiedMatching MONDO:0014926 Bardet-Biedl syndrome 22 skos:exactMatch DOID:0081011 Bardet-Biedl syndrome 22 semapv:UnspecifiedMatching MONDO:0014926 Bardet-Biedl syndrome 22 skos:exactMatch MEDGEN:1794146 semapv:UnspecifiedMatching MONDO:0014926 Bardet-Biedl syndrome 22 skos:exactMatch OMIM:617119 bardet-biedl syndrome 22 semapv:UnspecifiedMatching MONDO:0014926 Bardet-Biedl syndrome 22 skos:exactMatch UMLS:C5561936 semapv:UnspecifiedMatching MONDO:0014927 Joubert syndrome 27 skos:exactMatch DOID:0110996 Joubert syndrome 27 semapv:UnspecifiedMatching MONDO:0014927 Joubert syndrome 27 skos:exactMatch MEDGEN:934673 semapv:UnspecifiedMatching MONDO:0014927 Joubert syndrome 27 skos:exactMatch OMIM:617120 joubert syndrome 27 semapv:UnspecifiedMatching MONDO:0014927 Joubert syndrome 27 skos:exactMatch UMLS:C4310706 semapv:UnspecifiedMatching MONDO:0014928 Joubert syndrome 28 skos:exactMatch DOID:0110997 Joubert syndrome 28 semapv:UnspecifiedMatching MONDO:0014928 Joubert syndrome 28 skos:exactMatch MEDGEN:934672 semapv:UnspecifiedMatching MONDO:0014928 Joubert syndrome 28 skos:exactMatch OMIM:617121 joubert syndrome 28 semapv:UnspecifiedMatching MONDO:0014928 Joubert syndrome 28 skos:exactMatch UMLS:C4310705 semapv:UnspecifiedMatching MONDO:0014929 retinitis pigmentosa 76 skos:exactMatch DOID:0061103 retinitis pigmentosa 76 semapv:UnspecifiedMatching MONDO:0014929 retinitis pigmentosa 76 skos:exactMatch MEDGEN:934671 semapv:UnspecifiedMatching MONDO:0014929 retinitis pigmentosa 76 skos:exactMatch OMIM:617123 retinitis pigmentosa 76 semapv:UnspecifiedMatching MONDO:0014929 retinitis pigmentosa 76 skos:exactMatch UMLS:C4310704 semapv:UnspecifiedMatching MONDO:0014930 intellectual disability, autosomal recessive 56 skos:exactMatch DOID:0081217 autosomal recessive intellectual developmental disorder 56 semapv:UnspecifiedMatching MONDO:0014930 intellectual disability, autosomal recessive 56 skos:exactMatch MEDGEN:934670 semapv:UnspecifiedMatching MONDO:0014930 intellectual disability, autosomal recessive 56 skos:exactMatch OMIM:617125 intellectual developmental disorder, autosomal recessive 56 semapv:UnspecifiedMatching MONDO:0014930 intellectual disability, autosomal recessive 56 skos:exactMatch UMLS:C4310703 semapv:UnspecifiedMatching MONDO:0014931 Alazami-Yuan syndrome skos:exactMatch MEDGEN:934669 semapv:UnspecifiedMatching MONDO:0014931 Alazami-Yuan syndrome skos:exactMatch OMIM:617126 alazami-yuan syndrome semapv:UnspecifiedMatching MONDO:0014931 Alazami-Yuan syndrome skos:exactMatch Orphanet:694946 Alazami-Yuan syndrome semapv:UnspecifiedMatching MONDO:0014931 Alazami-Yuan syndrome skos:exactMatch UMLS:C4310702 semapv:UnspecifiedMatching MONDO:0014932 orofaciodigital syndrome XV skos:exactMatch MEDGEN:934668 semapv:UnspecifiedMatching MONDO:0014932 orofaciodigital syndrome XV skos:exactMatch OMIM:617127 orofaciodigital syndrome 15 semapv:UnspecifiedMatching MONDO:0014932 orofaciodigital syndrome XV skos:exactMatch UMLS:C4310701 semapv:UnspecifiedMatching MONDO:0014933 developmental and epileptic encephalopathy, 44 skos:exactMatch DOID:0080424 developmental and epileptic encephalopathy 44 semapv:UnspecifiedMatching MONDO:0014933 developmental and epileptic encephalopathy, 44 skos:exactMatch MEDGEN:934667 semapv:UnspecifiedMatching MONDO:0014933 developmental and epileptic encephalopathy, 44 skos:exactMatch OMIM:617132 developmental and epileptic encephalopathy 44 semapv:UnspecifiedMatching MONDO:0014933 developmental and epileptic encephalopathy, 44 skos:exactMatch UMLS:C4310700 semapv:UnspecifiedMatching MONDO:0014934 spinocerebellar ataxia, autosomal recessive 24 skos:exactMatch DOID:0111615 autosomal recessive spinocerebellar ataxia 24 semapv:UnspecifiedMatching MONDO:0014934 spinocerebellar ataxia, autosomal recessive 24 skos:exactMatch MEDGEN:934666 semapv:UnspecifiedMatching MONDO:0014934 spinocerebellar ataxia, autosomal recessive 24 skos:exactMatch OMIM:617133 spinocerebellar ataxia, autosomal recessive 24 semapv:UnspecifiedMatching MONDO:0014934 spinocerebellar ataxia, autosomal recessive 24 skos:exactMatch UMLS:C4310699 semapv:UnspecifiedMatching MONDO:0014935 frontometaphyseal dysplasia 2 skos:exactMatch DOID:0111787 frontometaphyseal dysplasia 2 semapv:UnspecifiedMatching MONDO:0014935 frontometaphyseal dysplasia 2 skos:exactMatch MEDGEN:934664 semapv:UnspecifiedMatching MONDO:0014935 frontometaphyseal dysplasia 2 skos:exactMatch OMIM:617137 frontometaphyseal dysplasia 2 semapv:UnspecifiedMatching MONDO:0014935 frontometaphyseal dysplasia 2 skos:exactMatch UMLS:C4310697 semapv:UnspecifiedMatching MONDO:0014936 ZTTK syndrome skos:exactMatch DOID:0060953 ZTTK syndrome semapv:UnspecifiedMatching MONDO:0014936 ZTTK syndrome skos:exactMatch MEDGEN:934663 semapv:UnspecifiedMatching MONDO:0014936 ZTTK syndrome skos:exactMatch OMIM:617140 zttk syndrome semapv:UnspecifiedMatching MONDO:0014936 ZTTK syndrome skos:exactMatch Orphanet:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0014936 ZTTK syndrome skos:exactMatch UMLS:C4310696 semapv:UnspecifiedMatching MONDO:0014937 aniridia 2 skos:exactMatch MEDGEN:138010 semapv:UnspecifiedMatching MONDO:0014937 aniridia 2 skos:exactMatch OMIM:617141 aniridia 2 semapv:UnspecifiedMatching MONDO:0014937 aniridia 2 skos:exactMatch SCTID:253232000 semapv:UnspecifiedMatching MONDO:0014937 aniridia 2 skos:exactMatch UMLS:C0344543 semapv:UnspecifiedMatching MONDO:0014937 aniridia 2 skos:exactMatch mesh:C536372 semapv:UnspecifiedMatching MONDO:0014938 aniridia 3 skos:exactMatch MEDGEN:934662 semapv:UnspecifiedMatching MONDO:0014938 aniridia 3 skos:exactMatch OMIM:617142 aniridia 3 semapv:UnspecifiedMatching MONDO:0014938 aniridia 3 skos:exactMatch UMLS:C4310695 semapv:UnspecifiedMatching MONDO:0014939 congenital myasthenic syndrome 20 skos:exactMatch DOID:0110661 congenital myasthenic syndrome 20 semapv:UnspecifiedMatching MONDO:0014939 congenital myasthenic syndrome 20 skos:exactMatch MEDGEN:934661 semapv:UnspecifiedMatching MONDO:0014939 congenital myasthenic syndrome 20 skos:exactMatch OMIM:617143 myasthenic syndrome, congenital, 20, presynaptic semapv:UnspecifiedMatching MONDO:0014939 congenital myasthenic syndrome 20 skos:exactMatch UMLS:C4310694 semapv:UnspecifiedMatching MONDO:0014940 neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset skos:exactMatch DOID:0081364 neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset semapv:UnspecifiedMatching MONDO:0014940 neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset skos:exactMatch MEDGEN:934660 semapv:UnspecifiedMatching MONDO:0014940 neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset skos:exactMatch OMIM:617145 neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset semapv:UnspecifiedMatching MONDO:0014940 neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset skos:exactMatch UMLS:C4310693 semapv:UnspecifiedMatching MONDO:0014941 arthrogryposis, distal, with impaired proprioception and touch skos:exactMatch MEDGEN:934659 semapv:UnspecifiedMatching MONDO:0014941 arthrogryposis, distal, with impaired proprioception and touch skos:exactMatch OMIM:617146 arthrogryposis, distal, with impaired proprioception and touch semapv:UnspecifiedMatching MONDO:0014941 arthrogryposis, distal, with impaired proprioception and touch skos:exactMatch UMLS:C4310692 semapv:UnspecifiedMatching MONDO:0014942 developmental and epileptic encephalopathy, 45 skos:exactMatch DOID:0080428 developmental and epileptic encephalopathy 45 semapv:UnspecifiedMatching MONDO:0014942 developmental and epileptic encephalopathy, 45 skos:exactMatch MEDGEN:934658 semapv:UnspecifiedMatching MONDO:0014942 developmental and epileptic encephalopathy, 45 skos:exactMatch OMIM:617153 developmental and epileptic encephalopathy 45 semapv:UnspecifiedMatching MONDO:0014942 developmental and epileptic encephalopathy, 45 skos:exactMatch UMLS:C4310691 semapv:UnspecifiedMatching MONDO:0014943 mitochondrial DNA depletion syndrome 15 (hepatocerebral type) skos:exactMatch DOID:0080337 mitochondrial DNA depletion syndrome 15 semapv:UnspecifiedMatching MONDO:0014943 mitochondrial DNA depletion syndrome 15 (hepatocerebral type) skos:exactMatch MEDGEN:934657 semapv:UnspecifiedMatching MONDO:0014943 mitochondrial DNA depletion syndrome 15 (hepatocerebral type) skos:exactMatch OMIM:617156 mitochondrial DNA depletion syndrome 15 (hepatocerebral type) semapv:UnspecifiedMatching MONDO:0014943 mitochondrial DNA depletion syndrome 15 (hepatocerebral type) skos:exactMatch UMLS:C4310690 semapv:UnspecifiedMatching MONDO:0014944 short stature-brachydactyly-obesity-global developmental delay syndrome skos:exactMatch MEDGEN:934656 semapv:UnspecifiedMatching MONDO:0014944 short stature-brachydactyly-obesity-global developmental delay syndrome skos:exactMatch OMIM:617157 short stature, brachydactyly, impaired intellectual development, and seizures semapv:UnspecifiedMatching MONDO:0014944 short stature-brachydactyly-obesity-global developmental delay syndrome skos:exactMatch Orphanet:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome semapv:UnspecifiedMatching MONDO:0014944 short stature-brachydactyly-obesity-global developmental delay syndrome skos:exactMatch UMLS:C4310689 semapv:UnspecifiedMatching MONDO:0014945 myopathy, distal, with rimmed vacuoles skos:exactMatch DOID:0081363 distal myopathy with rimmed vacuoles semapv:UnspecifiedMatching MONDO:0014945 myopathy, distal, with rimmed vacuoles skos:exactMatch MEDGEN:1728314 semapv:UnspecifiedMatching MONDO:0014945 myopathy, distal, with rimmed vacuoles skos:exactMatch OMIM:617158 myopathy, distal, with rimmed vacuoles semapv:UnspecifiedMatching MONDO:0014945 myopathy, distal, with rimmed vacuoles skos:exactMatch UMLS:C5399975 semapv:UnspecifiedMatching MONDO:0014946 Sifrim-Hitz-Weiss syndrome skos:exactMatch DOID:0070529 Sifrim-Hitz-Weiss syndrome semapv:UnspecifiedMatching MONDO:0014946 Sifrim-Hitz-Weiss syndrome skos:exactMatch MEDGEN:934655 semapv:UnspecifiedMatching MONDO:0014946 Sifrim-Hitz-Weiss syndrome skos:exactMatch OMIM:617159 sifrim-hitz-weiss syndrome semapv:UnspecifiedMatching MONDO:0014946 Sifrim-Hitz-Weiss syndrome skos:exactMatch Orphanet:653712 CHD4-related neurodevelopmental disorder semapv:UnspecifiedMatching MONDO:0014946 Sifrim-Hitz-Weiss syndrome skos:exactMatch UMLS:C4310688 semapv:UnspecifiedMatching MONDO:0014947 developmental and epileptic encephalopathy, 46 skos:exactMatch DOID:0080456 developmental and epileptic encephalopathy 46 semapv:UnspecifiedMatching MONDO:0014947 developmental and epileptic encephalopathy, 46 skos:exactMatch MEDGEN:934654 semapv:UnspecifiedMatching MONDO:0014947 developmental and epileptic encephalopathy, 46 skos:exactMatch OMIM:617162 developmental and epileptic encephalopathy 46 semapv:UnspecifiedMatching MONDO:0014947 developmental and epileptic encephalopathy, 46 skos:exactMatch UMLS:C4310687 semapv:UnspecifiedMatching MONDO:0014948 short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay skos:exactMatch MEDGEN:934653 semapv:UnspecifiedMatching MONDO:0014948 short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay skos:exactMatch OMIM:617164 short stature-micrognathia syndrome semapv:UnspecifiedMatching MONDO:0014948 short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay skos:exactMatch Orphanet:659702 Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome semapv:UnspecifiedMatching MONDO:0014948 short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay skos:exactMatch UMLS:C4310686 semapv:UnspecifiedMatching MONDO:0014949 developmental and epileptic encephalopathy, 47 skos:exactMatch DOID:0080425 developmental and epileptic encephalopathy 47 semapv:UnspecifiedMatching MONDO:0014949 developmental and epileptic encephalopathy, 47 skos:exactMatch MEDGEN:934652 semapv:UnspecifiedMatching MONDO:0014949 developmental and epileptic encephalopathy, 47 skos:exactMatch OMIM:617166 developmental and epileptic encephalopathy 47 semapv:UnspecifiedMatching MONDO:0014949 developmental and epileptic encephalopathy, 47 skos:exactMatch UMLS:C4310685 semapv:UnspecifiedMatching MONDO:0014950 aortic aneurysm, familial thoracic 10 skos:exactMatch MEDGEN:924785 semapv:UnspecifiedMatching MONDO:0014950 aortic aneurysm, familial thoracic 10 skos:exactMatch OMIM:617168 aortic aneurysm, familial thoracic 10 semapv:UnspecifiedMatching MONDO:0014950 aortic aneurysm, familial thoracic 10 skos:exactMatch UMLS:C4284414 semapv:UnspecifiedMatching MONDO:0014951 intellectual developmental disorder, autosomal recessive 74 skos:exactMatch DOID:0081218 autosomal recessive intellectual developmental disorder 74 semapv:UnspecifiedMatching MONDO:0014951 intellectual developmental disorder, autosomal recessive 74 skos:exactMatch DOID:0112104 Sotos syndrome 3 semapv:UnspecifiedMatching MONDO:0014951 intellectual developmental disorder, autosomal recessive 74 skos:exactMatch MEDGEN:934651 semapv:UnspecifiedMatching MONDO:0014951 intellectual developmental disorder, autosomal recessive 74 skos:exactMatch OMIM:617169 intellectual developmental disorder, autosomal recessive 74 semapv:UnspecifiedMatching MONDO:0014951 intellectual developmental disorder, autosomal recessive 74 skos:exactMatch UMLS:C4310684 semapv:UnspecifiedMatching MONDO:0014952 intellectual disability-epilepsy-extrapyramidal syndrome skos:exactMatch MEDGEN:934650 semapv:UnspecifiedMatching MONDO:0014952 intellectual disability-epilepsy-extrapyramidal syndrome skos:exactMatch OMIM:617171 neurodevelopmental disorder with hypotonia and impaired expressive language and with or without seizures semapv:UnspecifiedMatching MONDO:0014952 intellectual disability-epilepsy-extrapyramidal syndrome skos:exactMatch Orphanet:468620 Intellectual disability-epilepsy-extrapyramidal syndrome semapv:UnspecifiedMatching MONDO:0014952 intellectual disability-epilepsy-extrapyramidal syndrome skos:exactMatch UMLS:C4310683 semapv:UnspecifiedMatching MONDO:0014953 gnb5-related intellectual disability-cardiac arrhythmia syndrome skos:exactMatch DOID:0081008 Lodder-Merla syndrome type 1 with impaired intellectual development and cardiac arrhythmia semapv:UnspecifiedMatching MONDO:0014953 gnb5-related intellectual disability-cardiac arrhythmia syndrome skos:exactMatch MEDGEN:1800300 semapv:UnspecifiedMatching MONDO:0014953 gnb5-related intellectual disability-cardiac arrhythmia syndrome skos:exactMatch OMIM:617173 lodder-merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia semapv:UnspecifiedMatching MONDO:0014953 gnb5-related intellectual disability-cardiac arrhythmia syndrome skos:exactMatch Orphanet:542306 GNB5-related intellectual disability-cardiac arrhythmia syndrome semapv:UnspecifiedMatching MONDO:0014953 gnb5-related intellectual disability-cardiac arrhythmia syndrome skos:exactMatch UMLS:C5568877 semapv:UnspecifiedMatching MONDO:0014954 Ehlers-Danlos syndrome, periodontal type 2 skos:exactMatch DOID:0080987 Ehlers-Danlos syndrome periodontal type 2 semapv:UnspecifiedMatching MONDO:0014954 Ehlers-Danlos syndrome, periodontal type 2 skos:exactMatch MEDGEN:934648 semapv:UnspecifiedMatching MONDO:0014954 Ehlers-Danlos syndrome, periodontal type 2 skos:exactMatch OMIM:617174 ehlers-danlos syndrome, periodontal type, 2 semapv:UnspecifiedMatching MONDO:0014954 Ehlers-Danlos syndrome, periodontal type 2 skos:exactMatch UMLS:C4310681 semapv:UnspecifiedMatching MONDO:0014955 RCBTB1-related retinopathy skos:exactMatch MEDGEN:934647 semapv:UnspecifiedMatching MONDO:0014955 RCBTB1-related retinopathy skos:exactMatch OMIM:617175 retinal dystrophy with or without extraocular anomalies semapv:UnspecifiedMatching MONDO:0014955 RCBTB1-related retinopathy skos:exactMatch UMLS:C4310680 semapv:UnspecifiedMatching MONDO:0014956 Chitayat syndrome skos:exactMatch MEDGEN:934646 semapv:UnspecifiedMatching MONDO:0014956 Chitayat syndrome skos:exactMatch OMIM:617180 chitayat syndrome semapv:UnspecifiedMatching MONDO:0014956 Chitayat syndrome skos:exactMatch UMLS:C4310679 semapv:UnspecifiedMatching MONDO:0014957 language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia skos:exactMatch MEDGEN:934645 semapv:UnspecifiedMatching MONDO:0014957 language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia skos:exactMatch OMIM:617182 lodder-merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmia semapv:UnspecifiedMatching MONDO:0014957 language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia skos:exactMatch UMLS:C4310678 semapv:UnspecifiedMatching MONDO:0014958 Harel-Yoon syndrome skos:exactMatch DOID:0081395 Harel-Yoon syndrome semapv:UnspecifiedMatching MONDO:0014958 Harel-Yoon syndrome skos:exactMatch MEDGEN:934644 semapv:UnspecifiedMatching MONDO:0014958 Harel-Yoon syndrome skos:exactMatch OMIM:617183 harel-yoon syndrome semapv:UnspecifiedMatching MONDO:0014958 Harel-Yoon syndrome skos:exactMatch Orphanet:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome semapv:UnspecifiedMatching MONDO:0014958 Harel-Yoon syndrome skos:exactMatch UMLS:C4310677 semapv:UnspecifiedMatching MONDO:0014959 mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant skos:exactMatch DOID:0080130 mitochondrial DNA depletion syndrome 12a semapv:UnspecifiedMatching MONDO:0014959 mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant skos:exactMatch MEDGEN:934643 semapv:UnspecifiedMatching MONDO:0014959 mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant skos:exactMatch OMIM:617184 mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant semapv:UnspecifiedMatching MONDO:0014959 mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant skos:exactMatch UMLS:C4310676 semapv:UnspecifiedMatching MONDO:0014960 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy skos:exactMatch EFO:0009158 semapv:UnspecifiedMatching MONDO:0014960 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy skos:exactMatch OMIMPS:617186 Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy semapv:UnspecifiedMatching MONDO:0014961 spermatogenic failure 16 skos:exactMatch DOID:0070184 spermatogenic failure 16 semapv:UnspecifiedMatching MONDO:0014961 spermatogenic failure 16 skos:exactMatch MEDGEN:934641 semapv:UnspecifiedMatching MONDO:0014961 spermatogenic failure 16 skos:exactMatch OMIM:617187 spermatogenic failure 16 semapv:UnspecifiedMatching MONDO:0014961 spermatogenic failure 16 skos:exactMatch UMLS:C4310674 semapv:UnspecifiedMatching MONDO:0014962 intellectual disability, autosomal recessive 57 skos:exactMatch DOID:0081219 autosomal recessive intellectual developmental disorder 57 semapv:UnspecifiedMatching MONDO:0014962 intellectual disability, autosomal recessive 57 skos:exactMatch MEDGEN:934640 semapv:UnspecifiedMatching MONDO:0014962 intellectual disability, autosomal recessive 57 skos:exactMatch OMIM:617188 intellectual developmental disorder, autosomal recessive 57 semapv:UnspecifiedMatching MONDO:0014962 intellectual disability, autosomal recessive 57 skos:exactMatch UMLS:C4310673 semapv:UnspecifiedMatching MONDO:0014963 Shashi-Pena syndrome skos:exactMatch MEDGEN:934639 semapv:UnspecifiedMatching MONDO:0014963 Shashi-Pena syndrome skos:exactMatch OMIM:617190 shashi-pena syndrome semapv:UnspecifiedMatching MONDO:0014963 Shashi-Pena syndrome skos:exactMatch Orphanet:689408 Shashi-Pena syndrome semapv:UnspecifiedMatching MONDO:0014963 Shashi-Pena syndrome skos:exactMatch UMLS:C4310672 semapv:UnspecifiedMatching MONDO:0014965 lethal congenital contracture syndrome 11 skos:exactMatch MEDGEN:934637 semapv:UnspecifiedMatching MONDO:0014965 lethal congenital contracture syndrome 11 skos:exactMatch OMIM:617194 lethal congenital contracture syndrome 11 semapv:UnspecifiedMatching MONDO:0014965 lethal congenital contracture syndrome 11 skos:exactMatch UMLS:C4310670 semapv:UnspecifiedMatching MONDO:0014966 periventricular nodular heterotopia 7 skos:exactMatch MEDGEN:934636 semapv:UnspecifiedMatching MONDO:0014966 periventricular nodular heterotopia 7 skos:exactMatch OMIM:617201 periventricular nodular heterotopia 7 semapv:UnspecifiedMatching MONDO:0014966 periventricular nodular heterotopia 7 skos:exactMatch UMLS:C4310669 semapv:UnspecifiedMatching MONDO:0014967 heterotaxy, visceral, 8, autosomal skos:exactMatch DOID:0051022 visceral heterotaxy 8 semapv:UnspecifiedMatching MONDO:0014967 heterotaxy, visceral, 8, autosomal skos:exactMatch MEDGEN:934635 semapv:UnspecifiedMatching MONDO:0014967 heterotaxy, visceral, 8, autosomal skos:exactMatch OMIM:617205 heterotaxy, visceral, 8, autosomal semapv:UnspecifiedMatching MONDO:0014967 heterotaxy, visceral, 8, autosomal skos:exactMatch UMLS:C4310668 semapv:UnspecifiedMatching MONDO:0014968 encephalopathy, progressive, with amyotrophy and optic atrophy skos:exactMatch MEDGEN:934634 semapv:UnspecifiedMatching MONDO:0014968 encephalopathy, progressive, with amyotrophy and optic atrophy skos:exactMatch OMIM:617207 encephalopathy, progressive, with amyotrophy and optic atrophy semapv:UnspecifiedMatching MONDO:0014968 encephalopathy, progressive, with amyotrophy and optic atrophy skos:exactMatch UMLS:C4310667 semapv:UnspecifiedMatching MONDO:0014969 isolated sedoheptulokinase deficiency skos:exactMatch MEDGEN:713680 semapv:UnspecifiedMatching MONDO:0014969 isolated sedoheptulokinase deficiency skos:exactMatch OMIM:617213 sedoheptulokinase deficiency semapv:UnspecifiedMatching MONDO:0014969 isolated sedoheptulokinase deficiency skos:exactMatch Orphanet:440713 Isolated sedoheptulokinase deficiency semapv:UnspecifiedMatching MONDO:0014969 isolated sedoheptulokinase deficiency skos:exactMatch SCTID:124309005 semapv:UnspecifiedMatching MONDO:0014969 isolated sedoheptulokinase deficiency skos:exactMatch UMLS:C1291373 semapv:UnspecifiedMatching MONDO:0014970 spermatogenic failure 17 skos:exactMatch DOID:0070174 spermatogenic failure 17 semapv:UnspecifiedMatching MONDO:0014970 spermatogenic failure 17 skos:exactMatch MEDGEN:934633 semapv:UnspecifiedMatching MONDO:0014970 spermatogenic failure 17 skos:exactMatch OMIM:617214 spermatogenic failure 17 semapv:UnspecifiedMatching MONDO:0014970 spermatogenic failure 17 skos:exactMatch UMLS:C4310666 semapv:UnspecifiedMatching MONDO:0014971 amelogenesis imperfecta, hypomaturation type, IIa6 skos:exactMatch DOID:0080960 amelogenesis imperfecta type 2A6 semapv:UnspecifiedMatching MONDO:0014971 amelogenesis imperfecta, hypomaturation type, IIa6 skos:exactMatch MEDGEN:934632 semapv:UnspecifiedMatching MONDO:0014971 amelogenesis imperfecta, hypomaturation type, IIa6 skos:exactMatch OMIM:617217 amelogenesis imperfecta, hypomaturation type, iia6 semapv:UnspecifiedMatching MONDO:0014971 amelogenesis imperfecta, hypomaturation type, IIa6 skos:exactMatch UMLS:C4310665 semapv:UnspecifiedMatching MONDO:0014972 chromosome 19q13.11 deletion syndrome, proximal skos:exactMatch MEDGEN:935013 semapv:UnspecifiedMatching MONDO:0014972 chromosome 19q13.11 deletion syndrome, proximal skos:exactMatch OMIM:617219 chromosome 19q13.11 deletion syndrome, proximal semapv:UnspecifiedMatching MONDO:0014972 chromosome 19q13.11 deletion syndrome, proximal skos:exactMatch UMLS:C4311046 semapv:UnspecifiedMatching MONDO:0014973 sudden cardiac failure, infantile skos:exactMatch MEDGEN:934631 semapv:UnspecifiedMatching MONDO:0014973 sudden cardiac failure, infantile skos:exactMatch OMIM:617222 sudden cardiac failure, infantile semapv:UnspecifiedMatching MONDO:0014973 sudden cardiac failure, infantile skos:exactMatch UMLS:C4310664 semapv:UnspecifiedMatching MONDO:0014974 sudden cardiac failure, alcohol-induced skos:exactMatch MEDGEN:934630 semapv:UnspecifiedMatching MONDO:0014974 sudden cardiac failure, alcohol-induced skos:exactMatch OMIM:617223 sudden cardiac failure, alcohol-induced semapv:UnspecifiedMatching MONDO:0014974 sudden cardiac failure, alcohol-induced skos:exactMatch UMLS:C4310663 semapv:UnspecifiedMatching MONDO:0014975 autosomal recessive spastic paraplegia type 78 skos:exactMatch DOID:0112348 hereditary spastic paraplegia 78 semapv:UnspecifiedMatching MONDO:0014975 autosomal recessive spastic paraplegia type 78 skos:exactMatch MEDGEN:1799316 semapv:UnspecifiedMatching MONDO:0014975 autosomal recessive spastic paraplegia type 78 skos:exactMatch OMIM:617225 spastic paraplegia 78, autosomal recessive semapv:UnspecifiedMatching MONDO:0014975 autosomal recessive spastic paraplegia type 78 skos:exactMatch Orphanet:513436 Autosomal recessive spastic paraplegia type 78 semapv:UnspecifiedMatching MONDO:0014975 autosomal recessive spastic paraplegia type 78 skos:exactMatch UMLS:C5567893 semapv:UnspecifiedMatching MONDO:0014976 lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome skos:exactMatch DOID:0111488 combined oxidative phosphorylation deficiency 31 semapv:UnspecifiedMatching MONDO:0014976 lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome skos:exactMatch MEDGEN:934628 semapv:UnspecifiedMatching MONDO:0014976 lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome skos:exactMatch OMIM:617228 combined oxidative phosphorylation deficiency 31 semapv:UnspecifiedMatching MONDO:0014976 lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome skos:exactMatch Orphanet:478049 Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome semapv:UnspecifiedMatching MONDO:0014976 lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome skos:exactMatch UMLS:C4310661 semapv:UnspecifiedMatching MONDO:0014977 autosomal recessive limb-girdle muscular dystrophy type 2R1 skos:exactMatch DOID:0080762 autosomal recessive limb-girdle muscular dystrophy type 2Z semapv:UnspecifiedMatching MONDO:0014977 autosomal recessive limb-girdle muscular dystrophy type 2R1 skos:exactMatch MEDGEN:934627 semapv:UnspecifiedMatching MONDO:0014977 autosomal recessive limb-girdle muscular dystrophy type 2R1 skos:exactMatch NCIT:C142082 Limb-Girdle Muscular Dystrophy Type 2Z semapv:UnspecifiedMatching MONDO:0014977 autosomal recessive limb-girdle muscular dystrophy type 2R1 skos:exactMatch OMIM:617232 muscular dystrophy, limb-girdle, autosomal recessive 21 semapv:UnspecifiedMatching MONDO:0014977 autosomal recessive limb-girdle muscular dystrophy type 2R1 skos:exactMatch Orphanet:480682 POGLUT1-related limb-girdle muscular dystrophy R21 semapv:UnspecifiedMatching MONDO:0014977 autosomal recessive limb-girdle muscular dystrophy type 2R1 skos:exactMatch UMLS:C4310660 semapv:UnspecifiedMatching MONDO:0014979 myoclonus, intractable, neonatal skos:exactMatch MEDGEN:934625 semapv:UnspecifiedMatching MONDO:0014979 myoclonus, intractable, neonatal skos:exactMatch OMIM:617235 myoclonus, intractable, neonatal semapv:UnspecifiedMatching MONDO:0014979 myoclonus, intractable, neonatal skos:exactMatch UMLS:C4310658 semapv:UnspecifiedMatching MONDO:0014980 cone-rod dystrophy and hearing loss skos:exactMatch OMIMPS:617236 Cone-rod dystrophy and hearing loss semapv:UnspecifiedMatching MONDO:0014981 immunodeficiency 49 skos:exactMatch DOID:0111979 immunodeficiency 49 semapv:UnspecifiedMatching MONDO:0014981 immunodeficiency 49 skos:exactMatch MEDGEN:934623 semapv:UnspecifiedMatching MONDO:0014981 immunodeficiency 49 skos:exactMatch OMIM:617237 immunodeficiency 49, severe combined semapv:UnspecifiedMatching MONDO:0014981 immunodeficiency 49 skos:exactMatch UMLS:C4310656 semapv:UnspecifiedMatching MONDO:0014982 myopia 25, autosomal dominant skos:exactMatch MEDGEN:934622 semapv:UnspecifiedMatching MONDO:0014982 myopia 25, autosomal dominant skos:exactMatch OMIM:617238 myopia 25, autosomal dominant semapv:UnspecifiedMatching MONDO:0014982 myopia 25, autosomal dominant skos:exactMatch UMLS:C4310655 semapv:UnspecifiedMatching MONDO:0014983 congenital myasthenic syndrome 21 skos:exactMatch DOID:0110672 congenital myasthenic syndrome 21 semapv:UnspecifiedMatching MONDO:0014983 congenital myasthenic syndrome 21 skos:exactMatch MEDGEN:934621 semapv:UnspecifiedMatching MONDO:0014983 congenital myasthenic syndrome 21 skos:exactMatch OMIM:617239 myasthenic syndrome, congenital, 21, presynaptic semapv:UnspecifiedMatching MONDO:0014983 congenital myasthenic syndrome 21 skos:exactMatch UMLS:C4310654 semapv:UnspecifiedMatching MONDO:0014984 lung disease, immunodeficiency, and chromosome breakage syndrome; skos:exactMatch MEDGEN:934620 semapv:UnspecifiedMatching MONDO:0014984 lung disease, immunodeficiency, and chromosome breakage syndrome; skos:exactMatch OMIM:617241 lung disease, immunodeficiency, and chromosome breakage syndrome semapv:UnspecifiedMatching MONDO:0014984 lung disease, immunodeficiency, and chromosome breakage syndrome; skos:exactMatch UMLS:C4310653 semapv:UnspecifiedMatching MONDO:0014985 Fanconi anemia complementation group V skos:exactMatch DOID:0111080 Fanconi anemia complementation group V semapv:UnspecifiedMatching MONDO:0014985 Fanconi anemia complementation group V skos:exactMatch MEDGEN:934619 semapv:UnspecifiedMatching MONDO:0014985 Fanconi anemia complementation group V skos:exactMatch OMIM:617243 fanconi anemia, complementation group 5 semapv:UnspecifiedMatching MONDO:0014985 Fanconi anemia complementation group V skos:exactMatch UMLS:C4310652 semapv:UnspecifiedMatching MONDO:0014986 Fanconi anemia complementation group R skos:exactMatch DOID:0111090 Fanconi anemia complementation group R semapv:UnspecifiedMatching MONDO:0014986 Fanconi anemia complementation group R skos:exactMatch MEDGEN:924579 semapv:UnspecifiedMatching MONDO:0014986 Fanconi anemia complementation group R skos:exactMatch OMIM:617244 fanconi anemia, complementation group r semapv:UnspecifiedMatching MONDO:0014986 Fanconi anemia complementation group R skos:exactMatch UMLS:C4284093 semapv:UnspecifiedMatching MONDO:0014987 Fanconi anemia complementation group U skos:exactMatch DOID:0111085 Fanconi anemia complementation group U semapv:UnspecifiedMatching MONDO:0014987 Fanconi anemia complementation group U skos:exactMatch MEDGEN:934618 semapv:UnspecifiedMatching MONDO:0014987 Fanconi anemia complementation group U skos:exactMatch OMIM:617247 fanconi anemia, complementation group u semapv:UnspecifiedMatching MONDO:0014987 Fanconi anemia complementation group U skos:exactMatch UMLS:C4310651 semapv:UnspecifiedMatching MONDO:0014989 uncombable hair syndrome 2 skos:exactMatch MEDGEN:934616 semapv:UnspecifiedMatching MONDO:0014989 uncombable hair syndrome 2 skos:exactMatch OMIM:617251 uncombable hair syndrome 2 semapv:UnspecifiedMatching MONDO:0014989 uncombable hair syndrome 2 skos:exactMatch UMLS:C4310649 semapv:UnspecifiedMatching MONDO:0014990 uncombable hair syndrome 3 skos:exactMatch MEDGEN:934615 semapv:UnspecifiedMatching MONDO:0014990 uncombable hair syndrome 3 skos:exactMatch OMIM:617252 uncombable hair syndrome 3 semapv:UnspecifiedMatching MONDO:0014990 uncombable hair syndrome 3 skos:exactMatch UMLS:C4310648 semapv:UnspecifiedMatching MONDO:0014991 Seckel syndrome 10 skos:exactMatch DOID:0070008 Seckel syndrome 10 semapv:UnspecifiedMatching MONDO:0014991 Seckel syndrome 10 skos:exactMatch MEDGEN:934614 semapv:UnspecifiedMatching MONDO:0014991 Seckel syndrome 10 skos:exactMatch OMIM:617253 seckel syndrome 10 semapv:UnspecifiedMatching MONDO:0014991 Seckel syndrome 10 skos:exactMatch UMLS:C4310647 semapv:UnspecifiedMatching MONDO:0014992 lissencephaly 8 skos:exactMatch DOID:0112233 lissencephaly 8 semapv:UnspecifiedMatching MONDO:0014992 lissencephaly 8 skos:exactMatch MEDGEN:934613 semapv:UnspecifiedMatching MONDO:0014992 lissencephaly 8 skos:exactMatch OMIM:617255 lissencephaly 8 semapv:UnspecifiedMatching MONDO:0014992 lissencephaly 8 skos:exactMatch UMLS:C4310646 semapv:UnspecifiedMatching MONDO:0014993 myofibrillar myopathy 8 skos:exactMatch DOID:0080308 myofibrillar myopathy 8 semapv:UnspecifiedMatching MONDO:0014993 myofibrillar myopathy 8 skos:exactMatch MEDGEN:934612 semapv:UnspecifiedMatching MONDO:0014993 myofibrillar myopathy 8 skos:exactMatch OMIM:617258 myopathy, myofibrillar, 8 semapv:UnspecifiedMatching MONDO:0014993 myofibrillar myopathy 8 skos:exactMatch UMLS:C4310645 semapv:UnspecifiedMatching MONDO:0014994 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies skos:exactMatch MEDGEN:934611 semapv:UnspecifiedMatching MONDO:0014994 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies skos:exactMatch OMIM:617260 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies semapv:UnspecifiedMatching MONDO:0014994 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies skos:exactMatch UMLS:C4310644 semapv:UnspecifiedMatching MONDO:0014995 neurodevelopmental disorder with hypotonia, seizures, and absent language skos:exactMatch MEDGEN:934610 semapv:UnspecifiedMatching MONDO:0014995 neurodevelopmental disorder with hypotonia, seizures, and absent language skos:exactMatch OMIM:617268 neurodevelopmental disorder with hypotonia, seizures, and absent language semapv:UnspecifiedMatching MONDO:0014995 neurodevelopmental disorder with hypotonia, seizures, and absent language skos:exactMatch UMLS:C4310643 semapv:UnspecifiedMatching MONDO:0014996 intellectual disability, autosomal recessive 58 skos:exactMatch DOID:0081220 autosomal recessive intellectual developmental disorder 58 semapv:UnspecifiedMatching MONDO:0014996 intellectual disability, autosomal recessive 58 skos:exactMatch MEDGEN:934608 semapv:UnspecifiedMatching MONDO:0014996 intellectual disability, autosomal recessive 58 skos:exactMatch OMIM:617270 intellectual developmental disorder, autosomal recessive 58 semapv:UnspecifiedMatching MONDO:0014996 intellectual disability, autosomal recessive 58 skos:exactMatch UMLS:C4310641 semapv:UnspecifiedMatching MONDO:0014997 nephronophthisis 20 skos:exactMatch DOID:0111127 nephronophthisis 20 semapv:UnspecifiedMatching MONDO:0014997 nephronophthisis 20 skos:exactMatch MEDGEN:934607 semapv:UnspecifiedMatching MONDO:0014997 nephronophthisis 20 skos:exactMatch OMIM:617271 nephronophthisis 20 semapv:UnspecifiedMatching MONDO:0014997 nephronophthisis 20 skos:exactMatch UMLS:C4310640 semapv:UnspecifiedMatching MONDO:0014998 glaucoma 3, primary congenital, E skos:exactMatch MEDGEN:934606 semapv:UnspecifiedMatching MONDO:0014998 glaucoma 3, primary congenital, E skos:exactMatch OMIM:617272 glaucoma 3, primary congenital, e semapv:UnspecifiedMatching MONDO:0014998 glaucoma 3, primary congenital, E skos:exactMatch UMLS:C4310639 semapv:UnspecifiedMatching MONDO:0014999 tooth agenesis, selective, 9 skos:exactMatch MEDGEN:934605 semapv:UnspecifiedMatching MONDO:0014999 tooth agenesis, selective, 9 skos:exactMatch OMIM:617275 tooth agenesis, selective, 9 semapv:UnspecifiedMatching MONDO:0014999 tooth agenesis, selective, 9 skos:exactMatch UMLS:C4310638 semapv:UnspecifiedMatching MONDO:0015000 developmental and epileptic encephalopathy, 48 skos:exactMatch DOID:0080448 developmental and epileptic encephalopathy 48 semapv:UnspecifiedMatching MONDO:0015000 developmental and epileptic encephalopathy, 48 skos:exactMatch MEDGEN:934604 semapv:UnspecifiedMatching MONDO:0015000 developmental and epileptic encephalopathy, 48 skos:exactMatch OMIM:617276 developmental and epileptic encephalopathy 48 semapv:UnspecifiedMatching MONDO:0015000 developmental and epileptic encephalopathy, 48 skos:exactMatch UMLS:C4310637 semapv:UnspecifiedMatching MONDO:0015001 atrial fibrillation, familial, 18 skos:exactMatch MEDGEN:934603 semapv:UnspecifiedMatching MONDO:0015001 atrial fibrillation, familial, 18 skos:exactMatch OMIM:617280 atrial fibrillation, familial, 18 semapv:UnspecifiedMatching MONDO:0015001 atrial fibrillation, familial, 18 skos:exactMatch UMLS:C4310636 semapv:UnspecifiedMatching MONDO:0015002 developmental and epileptic encephalopathy, 49 skos:exactMatch DOID:0080441 developmental and epileptic encephalopathy 49 semapv:UnspecifiedMatching MONDO:0015002 developmental and epileptic encephalopathy, 49 skos:exactMatch MEDGEN:934602 semapv:UnspecifiedMatching MONDO:0015002 developmental and epileptic encephalopathy, 49 skos:exactMatch OMIM:617281 developmental and epileptic encephalopathy 49 semapv:UnspecifiedMatching MONDO:0015002 developmental and epileptic encephalopathy, 49 skos:exactMatch UMLS:C4310635 semapv:UnspecifiedMatching MONDO:0015003 dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities skos:exactMatch DOID:0081419 childhood-onset dystonia with optic atrophy and basal ganglia abnormalities semapv:UnspecifiedMatching MONDO:0015003 dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities skos:exactMatch MEDGEN:934601 semapv:UnspecifiedMatching MONDO:0015003 dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities skos:exactMatch OMIM:617282 dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities semapv:UnspecifiedMatching MONDO:0015003 dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities skos:exactMatch Orphanet:508093 MEPAN syndrome semapv:UnspecifiedMatching MONDO:0015003 dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities skos:exactMatch UMLS:C4310634 semapv:UnspecifiedMatching MONDO:0015004 dystonia 28, childhood-onset skos:exactMatch DOID:0060936 dystonia 28, childhood-onset semapv:UnspecifiedMatching MONDO:0015004 dystonia 28, childhood-onset skos:exactMatch EFO:0009301 semapv:UnspecifiedMatching MONDO:0015004 dystonia 28, childhood-onset skos:exactMatch MEDGEN:934600 semapv:UnspecifiedMatching MONDO:0015004 dystonia 28, childhood-onset skos:exactMatch OMIM:617284 dystonia 28, childhood-onset semapv:UnspecifiedMatching MONDO:0015004 dystonia 28, childhood-onset skos:exactMatch Orphanet:589618 Dystonia 28 semapv:UnspecifiedMatching MONDO:0015004 dystonia 28, childhood-onset skos:exactMatch UMLS:C4310633 semapv:UnspecifiedMatching MONDO:0015005 epilepsy, early-onset, vitamin B6-dependent skos:exactMatch DOID:0080769 early-onset vitamin B6-dependent epilepsy 1 semapv:UnspecifiedMatching MONDO:0015005 epilepsy, early-onset, vitamin B6-dependent skos:exactMatch MEDGEN:934599 semapv:UnspecifiedMatching MONDO:0015005 epilepsy, early-onset, vitamin B6-dependent skos:exactMatch OMIM:617290 epilepsy, early-onset, 1, vitamin b6-dependent semapv:UnspecifiedMatching MONDO:0015005 epilepsy, early-onset, vitamin B6-dependent skos:exactMatch UMLS:C4310632 semapv:UnspecifiedMatching MONDO:0015006 epidermolysis bullosa simplex 6, generalized, with scarring and hair loss skos:exactMatch MEDGEN:934598 semapv:UnspecifiedMatching MONDO:0015006 epidermolysis bullosa simplex 6, generalized, with scarring and hair loss skos:exactMatch OMIM:617294 epidermolysis bullosa simplex 6, generalized intermediate, with or without cardiomyopathy semapv:UnspecifiedMatching MONDO:0015006 epidermolysis bullosa simplex 6, generalized, with scarring and hair loss skos:exactMatch Orphanet:508529 Intermediate epidermolysis bullosa simplex with cardiomyopathy semapv:UnspecifiedMatching MONDO:0015006 epidermolysis bullosa simplex 6, generalized, with scarring and hair loss skos:exactMatch UMLS:C4310631 semapv:UnspecifiedMatching MONDO:0015007 spastic paraplegia, intellectual disability, nystagmus, and obesity skos:exactMatch MEDGEN:924883 semapv:UnspecifiedMatching MONDO:0015007 spastic paraplegia, intellectual disability, nystagmus, and obesity skos:exactMatch OMIM:617296 spastic paraplegia, intellectual disability, nystagmus, and obesity semapv:UnspecifiedMatching MONDO:0015007 spastic paraplegia, intellectual disability, nystagmus, and obesity skos:exactMatch Orphanet:521390 Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome semapv:UnspecifiedMatching MONDO:0015007 spastic paraplegia, intellectual disability, nystagmus, and obesity skos:exactMatch UMLS:C4284592 semapv:UnspecifiedMatching MONDO:0015008 amelogenesis imperfecta, type 1J skos:exactMatch DOID:0080953 amelogenesis imperfecta type 1J semapv:UnspecifiedMatching MONDO:0015008 amelogenesis imperfecta, type 1J skos:exactMatch EFO:0009302 semapv:UnspecifiedMatching MONDO:0015008 amelogenesis imperfecta, type 1J skos:exactMatch MEDGEN:934597 semapv:UnspecifiedMatching MONDO:0015008 amelogenesis imperfecta, type 1J skos:exactMatch OMIM:617297 amelogenesis imperfecta, type 1j semapv:UnspecifiedMatching MONDO:0015008 amelogenesis imperfecta, type 1J skos:exactMatch UMLS:C4310630 semapv:UnspecifiedMatching MONDO:0015009 lymphatic malformation 7 skos:exactMatch MEDGEN:934596 semapv:UnspecifiedMatching MONDO:0015009 lymphatic malformation 7 skos:exactMatch OMIM:617300 lymphatic malformation 7 semapv:UnspecifiedMatching MONDO:0015009 lymphatic malformation 7 skos:exactMatch UMLS:C4310629 semapv:UnspecifiedMatching MONDO:0015010 atypical glycine encephalopathy skos:exactMatch MEDGEN:934910 semapv:UnspecifiedMatching MONDO:0015010 atypical glycine encephalopathy skos:exactMatch OMIM:617301 glycine encephalopathy with normal serum glycine semapv:UnspecifiedMatching MONDO:0015010 atypical glycine encephalopathy skos:exactMatch Orphanet:289863 Atypical glycine encephalopathy semapv:UnspecifiedMatching MONDO:0015010 atypical glycine encephalopathy skos:exactMatch UMLS:C4310943 semapv:UnspecifiedMatching MONDO:0015010 atypical glycine encephalopathy skos:exactMatch icd11.foundation:51420481 Atypical glycine encephalopathy semapv:UnspecifiedMatching MONDO:0015011 optic atrophy 11 skos:exactMatch DOID:0111436 optic atrophy 11 semapv:UnspecifiedMatching MONDO:0015011 optic atrophy 11 skos:exactMatch MEDGEN:934595 semapv:UnspecifiedMatching MONDO:0015011 optic atrophy 11 skos:exactMatch OMIM:617302 optic atrophy 11 semapv:UnspecifiedMatching MONDO:0015011 optic atrophy 11 skos:exactMatch UMLS:C4310628 semapv:UnspecifiedMatching MONDO:0015012 mucopolysaccharidosis-plus syndrome skos:exactMatch MEDGEN:934594 semapv:UnspecifiedMatching MONDO:0015012 mucopolysaccharidosis-plus syndrome skos:exactMatch OMIM:617303 mucopolysaccharidosis-plus syndrome semapv:UnspecifiedMatching MONDO:0015012 mucopolysaccharidosis-plus syndrome skos:exactMatch Orphanet:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders semapv:UnspecifiedMatching MONDO:0015012 mucopolysaccharidosis-plus syndrome skos:exactMatch SCTID:1187113001 semapv:UnspecifiedMatching MONDO:0015012 mucopolysaccharidosis-plus syndrome skos:exactMatch UMLS:C4310627 semapv:UnspecifiedMatching MONDO:0015013 retinitis pigmentosa 77 skos:exactMatch DOID:0080350 retinitis pigmentosa 77 semapv:UnspecifiedMatching MONDO:0015013 retinitis pigmentosa 77 skos:exactMatch MEDGEN:934593 semapv:UnspecifiedMatching MONDO:0015013 retinitis pigmentosa 77 skos:exactMatch OMIM:617304 retinitis pigmentosa 77 semapv:UnspecifiedMatching MONDO:0015013 retinitis pigmentosa 77 skos:exactMatch UMLS:C4310626 semapv:UnspecifiedMatching MONDO:0015014 coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness skos:exactMatch MEDGEN:934592 semapv:UnspecifiedMatching MONDO:0015014 coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness skos:exactMatch OMIM:617306 coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness semapv:UnspecifiedMatching MONDO:0015014 coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness skos:exactMatch Orphanet:603494 Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome semapv:UnspecifiedMatching MONDO:0015014 coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness skos:exactMatch UMLS:C4310625 semapv:UnspecifiedMatching MONDO:0015015 congenital bile acid synthesis defect 6 skos:exactMatch DOID:0111067 congenital bile acid synthesis defect 6 semapv:UnspecifiedMatching MONDO:0015015 congenital bile acid synthesis defect 6 skos:exactMatch MEDGEN:934591 semapv:UnspecifiedMatching MONDO:0015015 congenital bile acid synthesis defect 6 skos:exactMatch OMIM:617308 bile acid synthesis defect, congenital, 6 semapv:UnspecifiedMatching MONDO:0015015 congenital bile acid synthesis defect 6 skos:exactMatch UMLS:C4310624 semapv:UnspecifiedMatching MONDO:0015016 anterior segment dysgenesis 6 skos:exactMatch DOID:0080611 anterior segment dysgenesis 6 semapv:UnspecifiedMatching MONDO:0015016 anterior segment dysgenesis 6 skos:exactMatch MEDGEN:934590 semapv:UnspecifiedMatching MONDO:0015016 anterior segment dysgenesis 6 skos:exactMatch OMIM:617315 anterior segment dysgenesis 6 semapv:UnspecifiedMatching MONDO:0015016 anterior segment dysgenesis 6 skos:exactMatch UMLS:C4310623 semapv:UnspecifiedMatching MONDO:0015017 anterior segment dysgenesis 8 skos:exactMatch DOID:0080613 anterior segment dysgenesis 8 semapv:UnspecifiedMatching MONDO:0015017 anterior segment dysgenesis 8 skos:exactMatch MEDGEN:934589 semapv:UnspecifiedMatching MONDO:0015017 anterior segment dysgenesis 8 skos:exactMatch OMIM:617319 anterior segment dysgenesis 8 semapv:UnspecifiedMatching MONDO:0015017 anterior segment dysgenesis 8 skos:exactMatch Orphanet:519388 Autosomal recessive anterior segment dysgenesis semapv:UnspecifiedMatching MONDO:0015017 anterior segment dysgenesis 8 skos:exactMatch UMLS:C4310622 semapv:UnspecifiedMatching MONDO:0015018 ichthyosis, congenital, autosomal recessive 12 skos:exactMatch MEDGEN:934588 semapv:UnspecifiedMatching MONDO:0015018 ichthyosis, congenital, autosomal recessive 12 skos:exactMatch OMIM:617320 ichthyosis, congenital, autosomal recessive 12 semapv:UnspecifiedMatching MONDO:0015018 ichthyosis, congenital, autosomal recessive 12 skos:exactMatch UMLS:C4310621 semapv:UnspecifiedMatching MONDO:0015019 Yao syndrome skos:exactMatch MEDGEN:934587 semapv:UnspecifiedMatching MONDO:0015019 Yao syndrome skos:exactMatch OMIM:617321 yao syndrome semapv:UnspecifiedMatching MONDO:0015019 Yao syndrome skos:exactMatch SCTID:768667002 semapv:UnspecifiedMatching MONDO:0015019 Yao syndrome skos:exactMatch UMLS:C4310620 semapv:UnspecifiedMatching MONDO:0015020 intellectual disability, autosomal recessive 59 skos:exactMatch DOID:0081221 autosomal recessive intellectual developmental disorder 59 semapv:UnspecifiedMatching MONDO:0015020 intellectual disability, autosomal recessive 59 skos:exactMatch MEDGEN:934586 semapv:UnspecifiedMatching MONDO:0015020 intellectual disability, autosomal recessive 59 skos:exactMatch OMIM:617323 intellectual developmental disorder, autosomal recessive 59 semapv:UnspecifiedMatching MONDO:0015020 intellectual disability, autosomal recessive 59 skos:exactMatch UMLS:C4310619 semapv:UnspecifiedMatching MONDO:0015021 hypotonia, ataxia, and delayed development syndrome skos:exactMatch DOID:0081176 hypotonia, ataxia, and delayed development syndrome semapv:UnspecifiedMatching MONDO:0015021 hypotonia, ataxia, and delayed development syndrome skos:exactMatch MEDGEN:934585 semapv:UnspecifiedMatching MONDO:0015021 hypotonia, ataxia, and delayed development syndrome skos:exactMatch OMIM:617330 hypotonia, ataxia, and delayed development syndrome semapv:UnspecifiedMatching MONDO:0015021 hypotonia, ataxia, and delayed development syndrome skos:exactMatch Orphanet:658843 Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome semapv:UnspecifiedMatching MONDO:0015021 hypotonia, ataxia, and delayed development syndrome skos:exactMatch UMLS:C4310618 semapv:UnspecifiedMatching MONDO:0015022 intellectual developmental disorder with dysmorphic facies and ptosis skos:exactMatch MEDGEN:934584 semapv:UnspecifiedMatching MONDO:0015022 intellectual developmental disorder with dysmorphic facies and ptosis skos:exactMatch OMIM:617333 intellectual developmental disorder with dysmorphic facies and ptosis semapv:UnspecifiedMatching MONDO:0015022 intellectual developmental disorder with dysmorphic facies and ptosis skos:exactMatch Orphanet:698090 Ophthalmological abnormalities-facial dysmorphism-intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0015022 intellectual developmental disorder with dysmorphic facies and ptosis skos:exactMatch UMLS:C4310617 semapv:UnspecifiedMatching MONDO:0015023 MYPN-related myopathy skos:exactMatch DOID:0110933 nemaline myopathy 11 semapv:UnspecifiedMatching MONDO:0015023 MYPN-related myopathy skos:exactMatch MEDGEN:1384302 semapv:UnspecifiedMatching MONDO:0015023 MYPN-related myopathy skos:exactMatch OMIM:617336 congenital myopathy 24 semapv:UnspecifiedMatching MONDO:0015023 MYPN-related myopathy skos:exactMatch UMLS:C4479186 semapv:UnspecifiedMatching MONDO:0015024 ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type skos:exactMatch DOID:0111652 ectodermal dysplasia 12 semapv:UnspecifiedMatching MONDO:0015024 ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type skos:exactMatch MEDGEN:934583 semapv:UnspecifiedMatching MONDO:0015024 ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type skos:exactMatch OMIM:617337 ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type semapv:UnspecifiedMatching MONDO:0015024 ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type skos:exactMatch UMLS:C4310616 semapv:UnspecifiedMatching MONDO:0015025 developmental and epileptic encephalopathy, 51 skos:exactMatch DOID:0080433 developmental and epileptic encephalopathy 51 semapv:UnspecifiedMatching MONDO:0015025 developmental and epileptic encephalopathy, 51 skos:exactMatch MEDGEN:1372686 semapv:UnspecifiedMatching MONDO:0015025 developmental and epileptic encephalopathy, 51 skos:exactMatch OMIM:617339 developmental and epileptic encephalopathy 51 semapv:UnspecifiedMatching MONDO:0015025 developmental and epileptic encephalopathy, 51 skos:exactMatch UMLS:C4479208 semapv:UnspecifiedMatching MONDO:0015026 cerebroretinal microangiopathy with calcifications and cysts 2 skos:exactMatch MEDGEN:1390862 semapv:UnspecifiedMatching MONDO:0015026 cerebroretinal microangiopathy with calcifications and cysts 2 skos:exactMatch OMIM:617341 cerebroretinal microangiopathy with calcifications and cysts 2 semapv:UnspecifiedMatching MONDO:0015026 cerebroretinal microangiopathy with calcifications and cysts 2 skos:exactMatch UMLS:C4479220 semapv:UnspecifiedMatching MONDO:0015027 familial isolated hyperparathyroidism skos:exactMatch MEDGEN:1643161 semapv:UnspecifiedMatching MONDO:0015027 familial isolated hyperparathyroidism skos:exactMatch NCIT:C94830 Hereditary Isolated Hyperparathyroidism semapv:UnspecifiedMatching MONDO:0015027 familial isolated hyperparathyroidism skos:exactMatch Orphanet:99879 Familial isolated hyperparathyroidism semapv:UnspecifiedMatching MONDO:0015027 familial isolated hyperparathyroidism skos:exactMatch UMLS:C4551961 semapv:UnspecifiedMatching MONDO:0015027 familial isolated hyperparathyroidism skos:exactMatch icd11.foundation:1799621215 Familial isolated hyperparathyroidism semapv:UnspecifiedMatching MONDO:0015028 48,XXYY syndrome skos:exactMatch MEDGEN:422434 semapv:UnspecifiedMatching MONDO:0015028 48,XXYY syndrome skos:exactMatch NCIT:C89801 XXYY Syndrome semapv:UnspecifiedMatching MONDO:0015028 48,XXYY syndrome skos:exactMatch Orphanet:10 48,XXYY syndrome semapv:UnspecifiedMatching MONDO:0015028 48,XXYY syndrome skos:exactMatch SCTID:403760006 semapv:UnspecifiedMatching MONDO:0015028 48,XXYY syndrome skos:exactMatch UMLS:C2936741 semapv:UnspecifiedMatching MONDO:0015029 reticular perineurioma skos:exactMatch MEDGEN:1842718 semapv:UnspecifiedMatching MONDO:0015029 reticular perineurioma skos:exactMatch Orphanet:100000 Reticular perineurioma semapv:UnspecifiedMatching MONDO:0015029 reticular perineurioma skos:exactMatch UMLS:C5681810 semapv:UnspecifiedMatching MONDO:0015029 reticular perineurioma skos:exactMatch icd11.foundation:9105270 Reticular perineurioma semapv:UnspecifiedMatching MONDO:0015030 sclerosing perineurioma skos:exactMatch MEDGEN:1843336 semapv:UnspecifiedMatching MONDO:0015030 sclerosing perineurioma skos:exactMatch Orphanet:100001 Sclerosing perineurioma semapv:UnspecifiedMatching MONDO:0015030 sclerosing perineurioma skos:exactMatch UMLS:C5681811 semapv:UnspecifiedMatching MONDO:0015030 sclerosing perineurioma skos:exactMatch icd11.foundation:924438028 Sclerosing perineurioma semapv:UnspecifiedMatching MONDO:0015031 extraneural perineurioma skos:exactMatch MEDGEN:1643216 semapv:UnspecifiedMatching MONDO:0015031 extraneural perineurioma skos:exactMatch NCIT:C6912 Soft Tissue Perineurioma semapv:UnspecifiedMatching MONDO:0015031 extraneural perineurioma skos:exactMatch Orphanet:100002 Extraneural perineurioma semapv:UnspecifiedMatching MONDO:0015031 extraneural perineurioma skos:exactMatch SCTID:768926005 semapv:UnspecifiedMatching MONDO:0015031 extraneural perineurioma skos:exactMatch UMLS:C4708595 semapv:UnspecifiedMatching MONDO:0015031 extraneural perineurioma skos:exactMatch icd11.foundation:691853283 Extraneural perineurioma semapv:UnspecifiedMatching MONDO:0015032 intraneural perineurioma skos:exactMatch DOID:4696 intraneural perineurioma semapv:UnspecifiedMatching MONDO:0015032 intraneural perineurioma skos:exactMatch MEDGEN:237162 semapv:UnspecifiedMatching MONDO:0015032 intraneural perineurioma skos:exactMatch NCIT:C6911 Intraneural Perineurioma semapv:UnspecifiedMatching MONDO:0015032 intraneural perineurioma skos:exactMatch Orphanet:100003 Intraneural perineurioma semapv:UnspecifiedMatching MONDO:0015032 intraneural perineurioma skos:exactMatch SCTID:768934004 semapv:UnspecifiedMatching MONDO:0015032 intraneural perineurioma skos:exactMatch UMLS:C1370658 semapv:UnspecifiedMatching MONDO:0015032 intraneural perineurioma skos:exactMatch icd11.foundation:362421359 Intraneural perineurioma semapv:UnspecifiedMatching MONDO:0015033 ABeta amyloidosis, dutch type skos:exactMatch MEDGEN:419468 semapv:UnspecifiedMatching MONDO:0015033 ABeta amyloidosis, dutch type skos:exactMatch Orphanet:100006 ABeta amyloidosis, Dutch type semapv:UnspecifiedMatching MONDO:0015033 ABeta amyloidosis, dutch type skos:exactMatch SCTID:56453003 semapv:UnspecifiedMatching MONDO:0015033 ABeta amyloidosis, dutch type skos:exactMatch UMLS:C2931672 semapv:UnspecifiedMatching MONDO:0015033 ABeta amyloidosis, dutch type skos:exactMatch icd11.foundation:1251572976 Hereditary cerebral haemorrhage with amyloidosis, Dutch type semapv:UnspecifiedMatching MONDO:0015034 lissencephaly with cerebellar hypoplasia type A skos:exactMatch MEDGEN:1679234 semapv:UnspecifiedMatching MONDO:0015034 lissencephaly with cerebellar hypoplasia type A skos:exactMatch Orphanet:100011 Lissencephaly with cerebellar hypoplasia type A semapv:UnspecifiedMatching MONDO:0015034 lissencephaly with cerebellar hypoplasia type A skos:exactMatch UMLS:C5191423 semapv:UnspecifiedMatching MONDO:0015034 lissencephaly with cerebellar hypoplasia type A skos:exactMatch icd11.foundation:853428618 Lissencephaly with cerebellar hypoplasia type A semapv:UnspecifiedMatching MONDO:0015035 lissencephaly with cerebellar hypoplasia type B skos:exactMatch MEDGEN:906879 semapv:UnspecifiedMatching MONDO:0015035 lissencephaly with cerebellar hypoplasia type B skos:exactMatch Orphanet:100012 Lissencephaly with cerebellar hypoplasia type B semapv:UnspecifiedMatching MONDO:0015035 lissencephaly with cerebellar hypoplasia type B skos:exactMatch SCTID:715819005 semapv:UnspecifiedMatching MONDO:0015035 lissencephaly with cerebellar hypoplasia type B skos:exactMatch UMLS:C4274993 semapv:UnspecifiedMatching MONDO:0015035 lissencephaly with cerebellar hypoplasia type B skos:exactMatch icd11.foundation:1056934902 Lissencephaly with cerebellar hypoplasia type B semapv:UnspecifiedMatching MONDO:0015036 lissencephaly with cerebellar hypoplasia type C skos:exactMatch MEDGEN:900624 semapv:UnspecifiedMatching MONDO:0015036 lissencephaly with cerebellar hypoplasia type C skos:exactMatch Orphanet:100013 Lissencephaly with cerebellar hypoplasia type C semapv:UnspecifiedMatching MONDO:0015036 lissencephaly with cerebellar hypoplasia type C skos:exactMatch SCTID:715820004 semapv:UnspecifiedMatching MONDO:0015036 lissencephaly with cerebellar hypoplasia type C skos:exactMatch UMLS:C4274992 semapv:UnspecifiedMatching MONDO:0015036 lissencephaly with cerebellar hypoplasia type C skos:exactMatch icd11.foundation:1837040262 Lissencephaly with cerebellar hypoplasia type C semapv:UnspecifiedMatching MONDO:0015037 lissencephaly with cerebellar hypoplasia type D skos:exactMatch MEDGEN:895252 semapv:UnspecifiedMatching MONDO:0015037 lissencephaly with cerebellar hypoplasia type D skos:exactMatch Orphanet:100014 Lissencephaly with cerebellar hypoplasia type D semapv:UnspecifiedMatching MONDO:0015037 lissencephaly with cerebellar hypoplasia type D skos:exactMatch SCTID:715821000 semapv:UnspecifiedMatching MONDO:0015037 lissencephaly with cerebellar hypoplasia type D skos:exactMatch UMLS:C4274991 semapv:UnspecifiedMatching MONDO:0015037 lissencephaly with cerebellar hypoplasia type D skos:exactMatch icd11.foundation:1633599738 Lissencephaly with cerebellar hypoplasia type D semapv:UnspecifiedMatching MONDO:0015038 lissencephaly with cerebellar hypoplasia type E skos:exactMatch MEDGEN:1676990 semapv:UnspecifiedMatching MONDO:0015038 lissencephaly with cerebellar hypoplasia type E skos:exactMatch Orphanet:100015 Lissencephaly with cerebellar hypoplasia type E semapv:UnspecifiedMatching MONDO:0015038 lissencephaly with cerebellar hypoplasia type E skos:exactMatch UMLS:C5191422 semapv:UnspecifiedMatching MONDO:0015038 lissencephaly with cerebellar hypoplasia type E skos:exactMatch icd11.foundation:252327835 Lissencephaly with cerebellar hypoplasia type E semapv:UnspecifiedMatching MONDO:0015039 lissencephaly with cerebellar hypoplasia type F skos:exactMatch MEDGEN:902647 semapv:UnspecifiedMatching MONDO:0015039 lissencephaly with cerebellar hypoplasia type F skos:exactMatch Orphanet:100016 Lissencephaly with cerebellar hypoplasia type F semapv:UnspecifiedMatching MONDO:0015039 lissencephaly with cerebellar hypoplasia type F skos:exactMatch SCTID:715822007 semapv:UnspecifiedMatching MONDO:0015039 lissencephaly with cerebellar hypoplasia type F skos:exactMatch UMLS:C4274989 semapv:UnspecifiedMatching MONDO:0015039 lissencephaly with cerebellar hypoplasia type F skos:exactMatch icd11.foundation:468664200 Lissencephaly with cerebellar hypoplasia type F semapv:UnspecifiedMatching MONDO:0015040 myelodysplastic syndrome with excess blasts-1 skos:exactMatch MEDGEN:231145 semapv:UnspecifiedMatching MONDO:0015040 myelodysplastic syndrome with excess blasts-1 skos:exactMatch Orphanet:100019 Myelodysplastic neoplasm with increased blasts type 1 semapv:UnspecifiedMatching MONDO:0015040 myelodysplastic syndrome with excess blasts-1 skos:exactMatch UMLS:C1318550 semapv:UnspecifiedMatching MONDO:0015041 myelodysplastic syndrome with excess blasts-2 skos:exactMatch MEDGEN:1644740 semapv:UnspecifiedMatching MONDO:0015041 myelodysplastic syndrome with excess blasts-2 skos:exactMatch NCIT:C7168 Myelodysplastic Syndrome/Acute Myeloid Leukemia semapv:UnspecifiedMatching MONDO:0015041 myelodysplastic syndrome with excess blasts-2 skos:exactMatch Orphanet:100020 Myelodysplastic neoplasm with increased blasts type 2 semapv:UnspecifiedMatching MONDO:0015041 myelodysplastic syndrome with excess blasts-2 skos:exactMatch UMLS:C4704767 semapv:UnspecifiedMatching MONDO:0015042 primary plasmacytoma of the bone skos:exactMatch Orphanet:100021 Primary plasmacytoma of the bone semapv:UnspecifiedMatching MONDO:0015043 extramedullary soft tissue plasmacytoma skos:exactMatch MEDGEN:1842608 semapv:UnspecifiedMatching MONDO:0015043 extramedullary soft tissue plasmacytoma skos:exactMatch Orphanet:100022 Extramedullary soft tissue plasmacytoma semapv:UnspecifiedMatching MONDO:0015043 extramedullary soft tissue plasmacytoma skos:exactMatch UMLS:C2211567 semapv:UnspecifiedMatching MONDO:0015044 mu-heavy chain disease skos:exactMatch DOID:0060128 mu chain disease semapv:UnspecifiedMatching MONDO:0015044 mu-heavy chain disease skos:exactMatch MEDGEN:66875 semapv:UnspecifiedMatching MONDO:0015044 mu-heavy chain disease skos:exactMatch NCIT:C3892 Mu Heavy Chain Disease semapv:UnspecifiedMatching MONDO:0015044 mu-heavy chain disease skos:exactMatch Orphanet:100024 Mu-heavy chain disease semapv:UnspecifiedMatching MONDO:0015044 mu-heavy chain disease skos:exactMatch SCTID:61493004 semapv:UnspecifiedMatching MONDO:0015044 mu-heavy chain disease skos:exactMatch UMLS:C0242310 semapv:UnspecifiedMatching MONDO:0015044 mu-heavy chain disease skos:exactMatch icd11.foundation:963887455 Mu heavy chain disease semapv:UnspecifiedMatching MONDO:0015045 alpha-heavy chain disease skos:exactMatch DOID:0060126 alpha chain disease semapv:UnspecifiedMatching MONDO:0015045 alpha-heavy chain disease skos:exactMatch MEDGEN:7039 semapv:UnspecifiedMatching MONDO:0015045 alpha-heavy chain disease skos:exactMatch NCIT:C3132 Alpha Heavy Chain Disease semapv:UnspecifiedMatching MONDO:0015045 alpha-heavy chain disease skos:exactMatch Orphanet:100025 Alpha-heavy chain disease semapv:UnspecifiedMatching MONDO:0015045 alpha-heavy chain disease skos:exactMatch UMLS:C0021071 semapv:UnspecifiedMatching MONDO:0015045 alpha-heavy chain disease skos:exactMatch icd11.foundation:680227490 Alpha heavy chain disease semapv:UnspecifiedMatching MONDO:0015045 alpha-heavy chain disease skos:exactMatch mesh:D007161 semapv:UnspecifiedMatching MONDO:0015046 gamma-heavy chain disease skos:exactMatch DOID:0060127 gamma heavy chain disease semapv:UnspecifiedMatching MONDO:0015046 gamma-heavy chain disease skos:exactMatch MEDGEN:42374 semapv:UnspecifiedMatching MONDO:0015046 gamma-heavy chain disease skos:exactMatch NCIT:C3083 Gamma Heavy Chain Disease semapv:UnspecifiedMatching MONDO:0015046 gamma-heavy chain disease skos:exactMatch Orphanet:100026 Gamma-heavy chain disease semapv:UnspecifiedMatching MONDO:0015046 gamma-heavy chain disease skos:exactMatch SCTID:109984001 semapv:UnspecifiedMatching MONDO:0015046 gamma-heavy chain disease skos:exactMatch UMLS:C0018854 semapv:UnspecifiedMatching MONDO:0015046 gamma-heavy chain disease skos:exactMatch icd11.foundation:705015637 Gamma heavy chain disease semapv:UnspecifiedMatching MONDO:0015047 amelogenesis imperfecta type 1 skos:exactMatch MEDGEN:97992 semapv:UnspecifiedMatching MONDO:0015047 amelogenesis imperfecta type 1 skos:exactMatch Orphanet:100031 Hypoplastic amelogenesis imperfecta semapv:UnspecifiedMatching MONDO:0015047 amelogenesis imperfecta type 1 skos:exactMatch SCTID:109476006 semapv:UnspecifiedMatching MONDO:0015047 amelogenesis imperfecta type 1 skos:exactMatch UMLS:C0399367 semapv:UnspecifiedMatching MONDO:0015048 amelogenesis imperfecta type 2 skos:exactMatch MEDGEN:97994 semapv:UnspecifiedMatching MONDO:0015048 amelogenesis imperfecta type 2 skos:exactMatch Orphanet:100033 Hypomaturation amelogenesis imperfecta semapv:UnspecifiedMatching MONDO:0015048 amelogenesis imperfecta type 2 skos:exactMatch SCTID:109475005 semapv:UnspecifiedMatching MONDO:0015048 amelogenesis imperfecta type 2 skos:exactMatch UMLS:C0399372 semapv:UnspecifiedMatching MONDO:0015048 amelogenesis imperfecta type 2 skos:exactMatch mesh:C536606 semapv:UnspecifiedMatching MONDO:0015049 solitary necrotic nodule of the liver skos:exactMatch MEDGEN:755361 semapv:UnspecifiedMatching MONDO:0015049 solitary necrotic nodule of the liver skos:exactMatch Orphanet:100035 Solitary necrotic nodule of the liver semapv:UnspecifiedMatching MONDO:0015049 solitary necrotic nodule of the liver skos:exactMatch SCTID:447058001 semapv:UnspecifiedMatching MONDO:0015049 solitary necrotic nodule of the liver skos:exactMatch UMLS:C2960192 semapv:UnspecifiedMatching MONDO:0015049 solitary necrotic nodule of the liver skos:exactMatch icd11.foundation:209168589 Solitary necrotic nodule of the liver semapv:UnspecifiedMatching MONDO:0015050 esophageal duplication cyst skos:exactMatch MEDGEN:929193 semapv:UnspecifiedMatching MONDO:0015050 esophageal duplication cyst skos:exactMatch Orphanet:100047 Isolated esophageal duplication cyst semapv:UnspecifiedMatching MONDO:0015050 esophageal duplication cyst skos:exactMatch SCTID:721161005 semapv:UnspecifiedMatching MONDO:0015050 esophageal duplication cyst skos:exactMatch UMLS:C4303524 semapv:UnspecifiedMatching MONDO:0015051 tubular duplication of the esophagus skos:exactMatch MEDGEN:897945 semapv:UnspecifiedMatching MONDO:0015051 tubular duplication of the esophagus skos:exactMatch Orphanet:100048 Isolated tubular duplication of the esophagus semapv:UnspecifiedMatching MONDO:0015051 tubular duplication of the esophagus skos:exactMatch UMLS:C4274729 semapv:UnspecifiedMatching MONDO:0015052 obsolete primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies skos:exactMatch Orphanet:100049 Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies semapv:UnspecifiedMatching MONDO:0015053 hereditary angioedema type 1 skos:exactMatch MEDGEN:403466 semapv:UnspecifiedMatching MONDO:0015053 hereditary angioedema type 1 skos:exactMatch Orphanet:100050 Hereditary angioedema type 1 semapv:UnspecifiedMatching MONDO:0015053 hereditary angioedema type 1 skos:exactMatch SCTID:234619000 semapv:UnspecifiedMatching MONDO:0015053 hereditary angioedema type 1 skos:exactMatch UMLS:C2717906 semapv:UnspecifiedMatching MONDO:0015054 hereditary angioedema type 2 skos:exactMatch MEDGEN:585077 semapv:UnspecifiedMatching MONDO:0015054 hereditary angioedema type 2 skos:exactMatch Orphanet:100051 Hereditary angioedema type 2 semapv:UnspecifiedMatching MONDO:0015054 hereditary angioedema type 2 skos:exactMatch UMLS:C0398776 semapv:UnspecifiedMatching MONDO:0015055 acquired angioedema type 2 skos:exactMatch MEDGEN:1814461 semapv:UnspecifiedMatching MONDO:0015055 acquired angioedema type 2 skos:exactMatch Orphanet:100055 Acquired angioedema type 2 semapv:UnspecifiedMatching MONDO:0015055 acquired angioedema type 2 skos:exactMatch UMLS:C5680381 semapv:UnspecifiedMatching MONDO:0015056 acquired angioedema type 1 skos:exactMatch MEDGEN:1814460 semapv:UnspecifiedMatching MONDO:0015056 acquired angioedema type 1 skos:exactMatch Orphanet:100056 Acquired angioedema type 1 semapv:UnspecifiedMatching MONDO:0015056 acquired angioedema type 1 skos:exactMatch UMLS:C5680380 semapv:UnspecifiedMatching MONDO:0015057 renin-angiotensin-aldosterone system-blocker-induced angioedema skos:exactMatch MEDGEN:725846 semapv:UnspecifiedMatching MONDO:0015057 renin-angiotensin-aldosterone system-blocker-induced angioedema skos:exactMatch Orphanet:100057 Renin-angiotensin-aldosterone system-blocker-induced angioedema semapv:UnspecifiedMatching MONDO:0015057 renin-angiotensin-aldosterone system-blocker-induced angioedema skos:exactMatch SCTID:403607004 semapv:UnspecifiedMatching MONDO:0015057 renin-angiotensin-aldosterone system-blocker-induced angioedema skos:exactMatch UMLS:C1304495 semapv:UnspecifiedMatching MONDO:0015057 renin-angiotensin-aldosterone system-blocker-induced angioedema skos:exactMatch mesh:C535293 semapv:UnspecifiedMatching MONDO:0015059 progressive non-fluent aphasia skos:exactMatch DOID:0081390 progressive non-fluent aphasia semapv:UnspecifiedMatching MONDO:0015059 progressive non-fluent aphasia skos:exactMatch MEDGEN:148373 semapv:UnspecifiedMatching MONDO:0015059 progressive non-fluent aphasia skos:exactMatch NCIT:C85025 Primary Progressive Nonfluent Aphasia semapv:UnspecifiedMatching MONDO:0015059 progressive non-fluent aphasia skos:exactMatch Orphanet:100070 Progressive non-fluent aphasia semapv:UnspecifiedMatching MONDO:0015059 progressive non-fluent aphasia skos:exactMatch SCTID:716281000 semapv:UnspecifiedMatching MONDO:0015059 progressive non-fluent aphasia skos:exactMatch UMLS:C0751706 semapv:UnspecifiedMatching MONDO:0015059 progressive non-fluent aphasia skos:exactMatch mesh:D057178 semapv:UnspecifiedMatching MONDO:0015060 mosaic trisomy 3 skos:exactMatch MEDGEN:1646607 semapv:UnspecifiedMatching MONDO:0015060 mosaic trisomy 3 skos:exactMatch Orphanet:100071 Mosaic trisomy 3 syndrome semapv:UnspecifiedMatching MONDO:0015060 mosaic trisomy 3 skos:exactMatch SCTID:764627005 semapv:UnspecifiedMatching MONDO:0015060 mosaic trisomy 3 skos:exactMatch UMLS:C4707012 semapv:UnspecifiedMatching MONDO:0015061 neurogenic thoracic outlet syndrome skos:exactMatch MEDGEN:155880 semapv:UnspecifiedMatching MONDO:0015061 neurogenic thoracic outlet syndrome skos:exactMatch Orphanet:100073 Neurogenic thoracic outlet syndrome semapv:UnspecifiedMatching MONDO:0015061 neurogenic thoracic outlet syndrome skos:exactMatch SCTID:2040007 semapv:UnspecifiedMatching MONDO:0015061 neurogenic thoracic outlet syndrome skos:exactMatch UMLS:C0751549 semapv:UnspecifiedMatching MONDO:0015062 gastric neuroendocrine tumor, well differentiated, low or intermediate grade skos:exactMatch MEDGEN:474032 semapv:UnspecifiedMatching MONDO:0015062 gastric neuroendocrine tumor, well differentiated, low or intermediate grade skos:exactMatch NCIT:C95871 Gastric Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO:0015062 gastric neuroendocrine tumor, well differentiated, low or intermediate grade skos:exactMatch UMLS:C3272399 semapv:UnspecifiedMatching MONDO:0015063 duodenal neuroendocrine tumor, well differentiated, low or intermediate grade skos:exactMatch MEDGEN:1619951 semapv:UnspecifiedMatching MONDO:0015063 duodenal neuroendocrine tumor, well differentiated, low or intermediate grade skos:exactMatch NCIT:C135080 Duodenal Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO:0015063 duodenal neuroendocrine tumor, well differentiated, low or intermediate grade skos:exactMatch Orphanet:100076 Duodenal neuroendocrine tumor semapv:UnspecifiedMatching MONDO:0015063 duodenal neuroendocrine tumor, well differentiated, low or intermediate grade skos:exactMatch UMLS:C4525619 semapv:UnspecifiedMatching MONDO:0015064 jejunal neuroendocrine tumor, well differentiated, low or intermediate grade skos:exactMatch MEDGEN:1619460 semapv:UnspecifiedMatching MONDO:0015064 jejunal neuroendocrine tumor, well differentiated, low or intermediate grade skos:exactMatch NCIT:C135090 Jejunal Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO:0015064 jejunal neuroendocrine tumor, well differentiated, low or intermediate grade skos:exactMatch Orphanet:100077 Jejunal neuroendocrine tumor semapv:UnspecifiedMatching MONDO:0015064 jejunal neuroendocrine tumor, well differentiated, low or intermediate grade skos:exactMatch UMLS:C4525626 semapv:UnspecifiedMatching MONDO:0015065 ileal neuroendocrine tumor, well differentiated, low or intermediate grade skos:exactMatch MEDGEN:1611292 semapv:UnspecifiedMatching MONDO:0015065 ileal neuroendocrine tumor, well differentiated, low or intermediate grade skos:exactMatch NCIT:C135092 Ileal Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO:0015065 ileal neuroendocrine tumor, well differentiated, low or intermediate grade skos:exactMatch Orphanet:100078 Ileal neuroendocrine tumor semapv:UnspecifiedMatching MONDO:0015065 ileal neuroendocrine tumor, well differentiated, low or intermediate grade skos:exactMatch UMLS:C4525628 semapv:UnspecifiedMatching MONDO:0015066 neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade skos:exactMatch MEDGEN:474400 semapv:UnspecifiedMatching MONDO:0015066 neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade skos:exactMatch NCIT:C96422 Appendix Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO:0015066 neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade skos:exactMatch Orphanet:100079 Neuroendocrine neoplasm of appendix semapv:UnspecifiedMatching MONDO:0015066 neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade skos:exactMatch SCTID:725167001 semapv:UnspecifiedMatching MONDO:0015066 neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade skos:exactMatch UMLS:C3272767 semapv:UnspecifiedMatching MONDO:0015066 neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade skos:exactMatch icd11.foundation:1590340268 Neuroendocrine neoplasms of appendix semapv:UnspecifiedMatching MONDO:0015067 neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor skos:exactMatch MEDGEN:1617490 semapv:UnspecifiedMatching MONDO:0015067 neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor skos:exactMatch NCIT:C135212 Colon Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO:0015067 neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor skos:exactMatch UMLS:C4525742 semapv:UnspecifiedMatching MONDO:0015068 rectal neuroendocrine tumor skos:exactMatch MEDGEN:1810164 semapv:UnspecifiedMatching MONDO:0015068 rectal neuroendocrine tumor skos:exactMatch NCIT:C135213 Rectal Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO:0015068 rectal neuroendocrine tumor skos:exactMatch Orphanet:100081 Neuroendocrine tumor of the rectum semapv:UnspecifiedMatching MONDO:0015068 rectal neuroendocrine tumor skos:exactMatch UMLS:C5554035 semapv:UnspecifiedMatching MONDO:0015069 neuroendocrine tumor of the anal canal skos:exactMatch MEDGEN:474482 semapv:UnspecifiedMatching MONDO:0015069 neuroendocrine tumor of the anal canal skos:exactMatch NCIT:C96540 Anal Canal Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO:0015069 neuroendocrine tumor of the anal canal skos:exactMatch Orphanet:100082 Neuroendocrine tumor of anal canal semapv:UnspecifiedMatching MONDO:0015069 neuroendocrine tumor of the anal canal skos:exactMatch UMLS:C3272849 semapv:UnspecifiedMatching MONDO:0015069 neuroendocrine tumor of the anal canal skos:exactMatch icd11.foundation:1927831331 Neuroendocrine neoplasm of anus or anal canal semapv:UnspecifiedMatching MONDO:0015070 laryngeal neuroendocrine neoplasm skos:exactMatch DOID:5457 laryngeal neuroendocrine tumor semapv:UnspecifiedMatching MONDO:0015070 laryngeal neuroendocrine neoplasm skos:exactMatch MEDGEN:232692 semapv:UnspecifiedMatching MONDO:0015070 laryngeal neuroendocrine neoplasm skos:exactMatch NCIT:C6023 Laryngeal Neuroendocrine Neoplasm semapv:UnspecifiedMatching MONDO:0015070 laryngeal neuroendocrine neoplasm skos:exactMatch Orphanet:100083 Laryngeal neuroendocrine tumor semapv:UnspecifiedMatching MONDO:0015070 laryngeal neuroendocrine neoplasm skos:exactMatch SCTID:707625001 semapv:UnspecifiedMatching MONDO:0015070 laryngeal neuroendocrine neoplasm skos:exactMatch UMLS:C1334374 semapv:UnspecifiedMatching MONDO:0015070 laryngeal neuroendocrine neoplasm skos:exactMatch icd11.foundation:1502591214 Laryngeal endocrine tumour semapv:UnspecifiedMatching MONDO:0015071 middle ear neuroendocrine tumor skos:exactMatch MEDGEN:931137 semapv:UnspecifiedMatching MONDO:0015071 middle ear neuroendocrine tumor skos:exactMatch Orphanet:100084 Middle ear neuroendocrine tumor semapv:UnspecifiedMatching MONDO:0015071 middle ear neuroendocrine tumor skos:exactMatch SCTID:717918002 semapv:UnspecifiedMatching MONDO:0015071 middle ear neuroendocrine tumor skos:exactMatch UMLS:C4305468 semapv:UnspecifiedMatching MONDO:0015071 middle ear neuroendocrine tumor skos:exactMatch icd11.foundation:1437498002 Middle ear endocrine tumour semapv:UnspecifiedMatching MONDO:0015072 liver neuroendocrine carcinoma skos:exactMatch MEDGEN:474664 semapv:UnspecifiedMatching MONDO:0015072 liver neuroendocrine carcinoma skos:exactMatch NCIT:C96787 Liver Neuroendocrine Carcinoma semapv:UnspecifiedMatching MONDO:0015072 liver neuroendocrine carcinoma skos:exactMatch Orphanet:100085 Primary hepatic neuroendocrine carcinoma semapv:UnspecifiedMatching MONDO:0015072 liver neuroendocrine carcinoma skos:exactMatch SCTID:716652006 semapv:UnspecifiedMatching MONDO:0015072 liver neuroendocrine carcinoma skos:exactMatch UMLS:C3273031 semapv:UnspecifiedMatching MONDO:0015073 gallbladder neuroendocrine tumor, grade 1/2 skos:exactMatch MEDGEN:474749 semapv:UnspecifiedMatching MONDO:0015073 gallbladder neuroendocrine tumor, grade 1/2 skos:exactMatch NCIT:C96918 Gallbladder Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO:0015073 gallbladder neuroendocrine tumor, grade 1/2 skos:exactMatch Orphanet:100086 Gallbladder neuroendocrine tumor semapv:UnspecifiedMatching MONDO:0015073 gallbladder neuroendocrine tumor, grade 1/2 skos:exactMatch UMLS:C3273116 semapv:UnspecifiedMatching MONDO:0015074 thyroid tumor skos:exactMatch EFO:0003841 semapv:UnspecifiedMatching MONDO:0015074 thyroid tumor skos:exactMatch MEDGEN:21546 semapv:UnspecifiedMatching MONDO:0015074 thyroid tumor skos:exactMatch NCIT:C3414 Thyroid Gland Neoplasm semapv:UnspecifiedMatching MONDO:0015074 thyroid tumor skos:exactMatch Orphanet:100087 Rare thyroid tumor semapv:UnspecifiedMatching MONDO:0015074 thyroid tumor skos:exactMatch SCTID:127018007 semapv:UnspecifiedMatching MONDO:0015074 thyroid tumor skos:exactMatch UMLS:C0040136 semapv:UnspecifiedMatching MONDO:0015075 thyroid gland carcinoma skos:exactMatch DOID:3963 thyroid gland carcinoma semapv:UnspecifiedMatching MONDO:0015075 thyroid gland carcinoma skos:exactMatch EFO:0002892 semapv:UnspecifiedMatching MONDO:0015075 thyroid gland carcinoma skos:exactMatch MEDGEN:107811 semapv:UnspecifiedMatching MONDO:0015075 thyroid gland carcinoma skos:exactMatch NCIT:C4815 Thyroid Gland Carcinoma semapv:UnspecifiedMatching MONDO:0015075 thyroid gland carcinoma skos:exactMatch Orphanet:100088 Rare thyroid carcinoma semapv:UnspecifiedMatching MONDO:0015075 thyroid gland carcinoma skos:exactMatch SCTID:448216007 semapv:UnspecifiedMatching MONDO:0015075 thyroid gland carcinoma skos:exactMatch UMLS:C0549473 semapv:UnspecifiedMatching MONDO:0015076 obsolete rare parathyroid tumor skos:exactMatch Orphanet:100090 Rare parathyroid tumor semapv:UnspecifiedMatching MONDO:0015079 multiple polyglandular tumor skos:exactMatch ICD10WHO:D44.8 Neoplasm of uncertain or unknown behaviour: Pluriglandular involvement semapv:UnspecifiedMatching MONDO:0015079 multiple polyglandular tumor skos:exactMatch MEDGEN:1863613 semapv:UnspecifiedMatching MONDO:0015079 multiple polyglandular tumor skos:exactMatch Orphanet:100094 Multiple polyglandular tumor semapv:UnspecifiedMatching MONDO:0015079 multiple polyglandular tumor skos:exactMatch UMLS:C5848154 semapv:UnspecifiedMatching MONDO:0015079 multiple polyglandular tumor skos:exactMatch icd11.foundation:1316827435 Multiple polyglandular tumours semapv:UnspecifiedMatching MONDO:0015081 obsolete neuroendocrine tumor with other location skos:exactMatch Orphanet:100101 Neuroendocrine tumor with other location semapv:UnspecifiedMatching MONDO:0015082 alopecia antibody deficiency skos:exactMatch MEDGEN:1683018 semapv:UnspecifiedMatching MONDO:0015082 alopecia antibody deficiency skos:exactMatch Orphanet:1006 Alopecia antibody deficiency semapv:UnspecifiedMatching MONDO:0015082 alopecia antibody deficiency skos:exactMatch UMLS:C5190867 semapv:UnspecifiedMatching MONDO:0015084 FRAXF syndrome skos:exactMatch MEDGEN:897295 semapv:UnspecifiedMatching MONDO:0015084 FRAXF syndrome skos:exactMatch Orphanet:100974 FRAXF syndrome semapv:UnspecifiedMatching MONDO:0015084 FRAXF syndrome skos:exactMatch SCTID:716708005 semapv:UnspecifiedMatching MONDO:0015084 FRAXF syndrome skos:exactMatch UMLS:C4274329 semapv:UnspecifiedMatching MONDO:0015085 bathing suit ichthyosis skos:exactMatch MEDGEN:1386460 semapv:UnspecifiedMatching MONDO:0015085 bathing suit ichthyosis skos:exactMatch Orphanet:100976 Bathing suit ichthyosis semapv:UnspecifiedMatching MONDO:0015085 bathing suit ichthyosis skos:exactMatch SCTID:725588002 semapv:UnspecifiedMatching MONDO:0015085 bathing suit ichthyosis skos:exactMatch UMLS:C4511230 semapv:UnspecifiedMatching MONDO:0015085 bathing suit ichthyosis skos:exactMatch icd11.foundation:174005370 Bathing suit ichthyosis semapv:UnspecifiedMatching MONDO:0015086 cloverleaf skull-asphyxiating thoracic dysplasia syndrome skos:exactMatch MEDGEN:1674171 semapv:UnspecifiedMatching MONDO:0015086 cloverleaf skull-asphyxiating thoracic dysplasia syndrome skos:exactMatch Orphanet:100978 Cloverleaf skull-asphyxiating thoracic dysplasia syndrome semapv:UnspecifiedMatching MONDO:0015086 cloverleaf skull-asphyxiating thoracic dysplasia syndrome skos:exactMatch UMLS:C5190852 semapv:UnspecifiedMatching MONDO:0015087 autosomal dominant complex spastic paraplegia skos:exactMatch MEDGEN:1842369 semapv:UnspecifiedMatching MONDO:0015087 autosomal dominant complex spastic paraplegia skos:exactMatch Orphanet:100979 Autosomal dominant complex spastic paraplegia semapv:UnspecifiedMatching MONDO:0015087 autosomal dominant complex spastic paraplegia skos:exactMatch UMLS:C5680379 semapv:UnspecifiedMatching MONDO:0015088 obsolete autosomal dominant pure spastic paraplegia skos:exactMatch Orphanet:100980 Autosomal dominant pure spastic paraplegia semapv:UnspecifiedMatching MONDO:0015089 obsolete autosomal recessive complex spastic paraplegia skos:exactMatch Orphanet:100981 Autosomal recessive complex spastic paraplegia semapv:UnspecifiedMatching MONDO:0015090 obsolete autosomal recessive pure spastic paraplegia skos:exactMatch Orphanet:100982 Autosomal recessive pure spastic paraplegia semapv:UnspecifiedMatching MONDO:0015091 autosomal dominant spastic paraplegia type 9 skos:exactMatch MEDGEN:322007 semapv:UnspecifiedMatching MONDO:0015091 autosomal dominant spastic paraplegia type 9 skos:exactMatch UMLS:C1832669 semapv:UnspecifiedMatching MONDO:0015091 autosomal dominant spastic paraplegia type 9 skos:exactMatch icd11.foundation:1867328407 Autosomal dominant spastic paraplegia type 9 semapv:UnspecifiedMatching MONDO:0015092 cleft hard palate skos:exactMatch ICD10CM:Q35.1 Cleft hard palate semapv:UnspecifiedMatching MONDO:0015092 cleft hard palate skos:exactMatch MEDGEN:609341 semapv:UnspecifiedMatching MONDO:0015092 cleft hard palate skos:exactMatch Orphanet:101023 Cleft hard palate semapv:UnspecifiedMatching MONDO:0015092 cleft hard palate skos:exactMatch SCTID:448915004 semapv:UnspecifiedMatching MONDO:0015092 cleft hard palate skos:exactMatch UMLS:C0432090 semapv:UnspecifiedMatching MONDO:0015092 cleft hard palate skos:exactMatch icd11.foundation:1047415764 Cleft hard palate semapv:UnspecifiedMatching MONDO:0015093 sub-cortical nodular heterotopia skos:exactMatch MEDGEN:1843064 semapv:UnspecifiedMatching MONDO:0015093 sub-cortical nodular heterotopia skos:exactMatch Orphanet:101029 Sub-cortical nodular heterotopia semapv:UnspecifiedMatching MONDO:0015093 sub-cortical nodular heterotopia skos:exactMatch UMLS:C5681805 semapv:UnspecifiedMatching MONDO:0015093 sub-cortical nodular heterotopia skos:exactMatch icd11.foundation:1683302159 Sub-cortical nodular heterotopia semapv:UnspecifiedMatching MONDO:0015094 subependymal nodular heterotopia skos:exactMatch MEDGEN:781340 semapv:UnspecifiedMatching MONDO:0015094 subependymal nodular heterotopia skos:exactMatch Orphanet:101030 Subependymal nodular heterotopia semapv:UnspecifiedMatching MONDO:0015094 subependymal nodular heterotopia skos:exactMatch SCTID:699812002 semapv:UnspecifiedMatching MONDO:0015094 subependymal nodular heterotopia skos:exactMatch UMLS:C3160906 semapv:UnspecifiedMatching MONDO:0015094 subependymal nodular heterotopia skos:exactMatch icd11.foundation:1752491379 Subependymal nodular heterotopia semapv:UnspecifiedMatching MONDO:0015095 Peters anomaly-cataract syndrome skos:exactMatch MEDGEN:419463 semapv:UnspecifiedMatching MONDO:0015095 Peters anomaly-cataract syndrome skos:exactMatch UMLS:C2931652 semapv:UnspecifiedMatching MONDO:0015095 Peters anomaly-cataract syndrome skos:exactMatch mesh:C537885 semapv:UnspecifiedMatching MONDO:0015096 familial hypofibrinogenemia skos:exactMatch MEDGEN:1826143 semapv:UnspecifiedMatching MONDO:0015096 familial hypofibrinogenemia skos:exactMatch Orphanet:101041 Familial hypofibrinogenemia semapv:UnspecifiedMatching MONDO:0015096 familial hypofibrinogenemia skos:exactMatch UMLS:C5681803 semapv:UnspecifiedMatching MONDO:0015097 aortic valve dysplasia skos:exactMatch MEDGEN:576679 semapv:UnspecifiedMatching MONDO:0015097 aortic valve dysplasia skos:exactMatch Orphanet:101043 Congenital aortic valve dysplasia semapv:UnspecifiedMatching MONDO:0015097 aortic valve dysplasia skos:exactMatch SCTID:253604004 semapv:UnspecifiedMatching MONDO:0015097 aortic valve dysplasia skos:exactMatch UMLS:C0344993 semapv:UnspecifiedMatching MONDO:0015099 unilateral hemispheric polymicrogyria skos:exactMatch MEDGEN:1842283 semapv:UnspecifiedMatching MONDO:0015099 unilateral hemispheric polymicrogyria skos:exactMatch Orphanet:101071 Unilateral hemispheric polymicrogyria semapv:UnspecifiedMatching MONDO:0015099 unilateral hemispheric polymicrogyria skos:exactMatch UMLS:C5681804 semapv:UnspecifiedMatching MONDO:0015099 unilateral hemispheric polymicrogyria skos:exactMatch icd11.foundation:1318599015 Unilateral hemispheric polymicrogyria semapv:UnspecifiedMatching MONDO:0015100 aregenerative anemia skos:exactMatch MEDGEN:639969 semapv:UnspecifiedMatching MONDO:0015100 aregenerative anemia skos:exactMatch SCTID:89112009 semapv:UnspecifiedMatching MONDO:0015100 aregenerative anemia skos:exactMatch UMLS:C0553669 semapv:UnspecifiedMatching MONDO:0015101 Marin-Amat syndrome skos:exactMatch MEDGEN:1842834 semapv:UnspecifiedMatching MONDO:0015101 Marin-Amat syndrome skos:exactMatch Orphanet:101104 Marin-Amat syndrome semapv:UnspecifiedMatching MONDO:0015101 Marin-Amat syndrome skos:exactMatch UMLS:C5681802 semapv:UnspecifiedMatching MONDO:0015101 Marin-Amat syndrome skos:exactMatch icd11.foundation:727922687 Marin-Amat syndrome semapv:UnspecifiedMatching MONDO:0015103 pulmonary valve agenesis-tetralogy of fallot-absence of ductus arteriosus syndrome skos:exactMatch MEDGEN:1644090 semapv:UnspecifiedMatching MONDO:0015103 pulmonary valve agenesis-tetralogy of fallot-absence of ductus arteriosus syndrome skos:exactMatch Orphanet:101206 Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome semapv:UnspecifiedMatching MONDO:0015103 pulmonary valve agenesis-tetralogy of fallot-absence of ductus arteriosus syndrome skos:exactMatch UMLS:C4707896 semapv:UnspecifiedMatching MONDO:0015104 porphyria cutanea tarda skos:exactMatch DOID:3132 porphyria cutanea tarda semapv:UnspecifiedMatching MONDO:0015104 porphyria cutanea tarda skos:exactMatch ICD10CM:E80.1 Porphyria cutanea tarda semapv:UnspecifiedMatching MONDO:0015104 porphyria cutanea tarda skos:exactMatch MEDGEN:56453 semapv:UnspecifiedMatching MONDO:0015104 porphyria cutanea tarda skos:exactMatch NCIT:C27725 Porphyria Cutanea Tarda semapv:UnspecifiedMatching MONDO:0015104 porphyria cutanea tarda skos:exactMatch Orphanet:101330 Porphyria cutanea tarda semapv:UnspecifiedMatching MONDO:0015104 porphyria cutanea tarda skos:exactMatch SCTID:61860000 semapv:UnspecifiedMatching MONDO:0015104 porphyria cutanea tarda skos:exactMatch UMLS:C0162566 semapv:UnspecifiedMatching MONDO:0015104 porphyria cutanea tarda skos:exactMatch icd11.foundation:370983230 Porphyria cutanea tarda semapv:UnspecifiedMatching MONDO:0015104 porphyria cutanea tarda skos:exactMatch mesh:D017119 semapv:UnspecifiedMatching MONDO:0015106 obsolete rare urogenital disease skos:exactMatch Orphanet:101433 Rare urogenital disease semapv:UnspecifiedMatching MONDO:0015107 obsolete rare genetic eye disease skos:exactMatch Orphanet:101435 Rare genetic eye disease semapv:UnspecifiedMatching MONDO:0015108 obsolete rare non-syndromic intellectual disability skos:exactMatch Orphanet:101685 Rare non-syndromic intellectual disability semapv:UnspecifiedMatching MONDO:0015109 congenital anomaly of the mitral subvalvular apparatus skos:exactMatch MEDGEN:756923 semapv:UnspecifiedMatching MONDO:0015109 congenital anomaly of the mitral subvalvular apparatus skos:exactMatch Orphanet:101932 Anomaly of the mitral subvalvular apparatus semapv:UnspecifiedMatching MONDO:0015109 congenital anomaly of the mitral subvalvular apparatus skos:exactMatch UMLS:C3164517 semapv:UnspecifiedMatching MONDO:0015109 congenital anomaly of the mitral subvalvular apparatus skos:exactMatch icd11.foundation:498751490 Congenital anomaly of mitral subvalvar apparatus semapv:UnspecifiedMatching MONDO:0015110 obsolete genetic cardiac rhythm disease skos:exactMatch Orphanet:101934 Genetic cardiac rhythm disease semapv:UnspecifiedMatching MONDO:0015111 obsolete gastroesophageal disease skos:exactMatch Orphanet:101936 Rare gastroesophageal disease semapv:UnspecifiedMatching MONDO:0015112 obsolete rare pancreatic disease skos:exactMatch Orphanet:101937 Rare pancreatic disease semapv:UnspecifiedMatching MONDO:0015113 obsolete rare vascular liver disease skos:exactMatch Orphanet:101938 Rare vascular liver disease semapv:UnspecifiedMatching MONDO:0015114 obsolete rare parenchymal liver disease skos:exactMatch Orphanet:101939 Rare parenchymal liver disease semapv:UnspecifiedMatching MONDO:0015115 obsolete rare genetic metabolic liver disease skos:exactMatch Orphanet:101940 Rare metabolic liver disease semapv:UnspecifiedMatching MONDO:0015116 obsolete rare biliary tract disease skos:exactMatch Orphanet:101941 Rare biliary tract disease semapv:UnspecifiedMatching MONDO:0015117 obsolete rare hepatic and biliary tract tumor skos:exactMatch Orphanet:101943 Rare hepatic and biliary tract tumor semapv:UnspecifiedMatching MONDO:0015118 obsolete rare pulmonary disease skos:exactMatch Orphanet:101944 Rare pulmonary disease semapv:UnspecifiedMatching MONDO:0015119 obsolete bronchopulmonary tumor skos:exactMatch Orphanet:101945 Rare bronchopulmonary and pleural cavity tumors semapv:UnspecifiedMatching MONDO:0015120 obsolete rare acquired eye disease skos:exactMatch Orphanet:101949 OBSOLETE: Rare acquired eye disease semapv:UnspecifiedMatching MONDO:0015121 obsolete rare eye tumor skos:exactMatch Orphanet:101950 Rare eye tumor semapv:UnspecifiedMatching MONDO:0015122 obsolete rare diabetes mellitus skos:exactMatch Orphanet:101952 Rare diabetes mellitus semapv:UnspecifiedMatching MONDO:0015123 obsolete rare inherited dyslipidemia skos:exactMatch Orphanet:101953 Rare dyslipidemia semapv:UnspecifiedMatching MONDO:0015124 obsolete rare adrenal disease skos:exactMatch Orphanet:101954 Rare adrenal disease semapv:UnspecifiedMatching MONDO:0015125 obsolete rare thyroid disease skos:exactMatch Orphanet:101955 Rare thyroid disease semapv:UnspecifiedMatching MONDO:0015126 polyendocrinopathy skos:exactMatch MEDGEN:1826133 semapv:UnspecifiedMatching MONDO:0015126 polyendocrinopathy skos:exactMatch Orphanet:101956 Polyendocrinopathy semapv:UnspecifiedMatching MONDO:0015126 polyendocrinopathy skos:exactMatch UMLS:C5681797 semapv:UnspecifiedMatching MONDO:0015127 pituitary deficiency skos:exactMatch Orphanet:101957 Pituitary deficiency semapv:UnspecifiedMatching MONDO:0015127 pituitary deficiency skos:exactMatch icd11.foundation:292840069 Hypofunction or certain other specified disorders of pituitary gland semapv:UnspecifiedMatching MONDO:0015128 primary adrenal insufficiency skos:exactMatch MEDGEN:854614 semapv:UnspecifiedMatching MONDO:0015128 primary adrenal insufficiency skos:exactMatch NCIT:C113172 Primary Adrenal Insufficiency semapv:UnspecifiedMatching MONDO:0015128 primary adrenal insufficiency skos:exactMatch Orphanet:101958 Primary adrenal insufficiency semapv:UnspecifiedMatching MONDO:0015128 primary adrenal insufficiency skos:exactMatch UMLS:C3887896 semapv:UnspecifiedMatching MONDO:0015129 chronic primary adrenal insufficiency skos:exactMatch DOID:13774 Addison's disease semapv:UnspecifiedMatching MONDO:0015129 chronic primary adrenal insufficiency skos:exactMatch MEDGEN:1324 semapv:UnspecifiedMatching MONDO:0015129 chronic primary adrenal insufficiency skos:exactMatch NCIT:C26689 Addison's Disease semapv:UnspecifiedMatching MONDO:0015129 chronic primary adrenal insufficiency skos:exactMatch OMIM:240200 hypoadrenocorticism, familial semapv:UnspecifiedMatching MONDO:0015129 chronic primary adrenal insufficiency skos:exactMatch Orphanet:101959 Chronic primary adrenal insufficiency semapv:UnspecifiedMatching MONDO:0015129 chronic primary adrenal insufficiency skos:exactMatch SCTID:373662000 semapv:UnspecifiedMatching MONDO:0015129 chronic primary adrenal insufficiency skos:exactMatch UMLS:C0001403 semapv:UnspecifiedMatching MONDO:0015129 chronic primary adrenal insufficiency skos:exactMatch mesh:D000224 semapv:UnspecifiedMatching MONDO:0015130 obsolete acquired chronic primary adrenal insufficiency skos:exactMatch Orphanet:101963 Acquired chronic primary adrenal insufficiency semapv:UnspecifiedMatching MONDO:0015131 combined immunodeficiency skos:exactMatch DOID:0111962 combined immunodeficiency semapv:UnspecifiedMatching MONDO:0015131 combined immunodeficiency skos:exactMatch DOID:628 combined T cell and B cell immunodeficiency semapv:UnspecifiedMatching MONDO:0015131 combined immunodeficiency skos:exactMatch MEDGEN:751396 semapv:UnspecifiedMatching MONDO:0015131 combined immunodeficiency skos:exactMatch NCIT:C27871 Congenital Combined Immunodeficiency semapv:UnspecifiedMatching MONDO:0015131 combined immunodeficiency skos:exactMatch Orphanet:101972 Combined T and B cell immunodeficiency semapv:UnspecifiedMatching MONDO:0015131 combined immunodeficiency skos:exactMatch UMLS:C2711630 semapv:UnspecifiedMatching MONDO:0015131 combined immunodeficiency skos:exactMatch icd11.foundation:1616506198 Combined immunodeficiencies semapv:UnspecifiedMatching MONDO:0015132 obsolete immunodeficiency predominantly affecting antibody production skos:exactMatch Orphanet:101977 Immunodeficiency predominantly affecting antibody production semapv:UnspecifiedMatching MONDO:0015132 obsolete immunodeficiency predominantly affecting antibody production skos:exactMatch icd11.foundation:85074116 Immunodeficiencies with predominantly antibody defects semapv:UnspecifiedMatching MONDO:0015133 obsolete quantitative and/or qualitative congenital phagocyte defect skos:exactMatch Orphanet:101985 Quantitative and/or qualitative congenital phagocyte defect semapv:UnspecifiedMatching MONDO:0015134 constitutional neutropenia skos:exactMatch MEDGEN:1785816 semapv:UnspecifiedMatching MONDO:0015134 constitutional neutropenia skos:exactMatch NCIT:C61242 Congenital Neutropenia semapv:UnspecifiedMatching MONDO:0015134 constitutional neutropenia skos:exactMatch Orphanet:101987 Congenital neutropenia semapv:UnspecifiedMatching MONDO:0015134 constitutional neutropenia skos:exactMatch UMLS:C3805116 semapv:UnspecifiedMatching MONDO:0015134 constitutional neutropenia skos:exactMatch icd11.foundation:87096615 Constitutional neutropaenia semapv:UnspecifiedMatching MONDO:0015135 obsolete primary immunodeficiency due to a genetic defect in innate immunity skos:exactMatch Orphanet:101988 Primary immunodeficiency due to a defect in innate immunity semapv:UnspecifiedMatching MONDO:0015135 obsolete primary immunodeficiency due to a genetic defect in innate immunity skos:exactMatch icd11.foundation:551037838 Primary immunodeficiencies due to disorders of innate immunity semapv:UnspecifiedMatching MONDO:0015136 obsolete immunodeficiency due to a genetic complement cascade protein anomaly skos:exactMatch Orphanet:101992 Immunodeficiency due to a complement cascade protein anomaly semapv:UnspecifiedMatching MONDO:0015136 obsolete immunodeficiency due to a genetic complement cascade protein anomaly skos:exactMatch icd11.foundation:1222145690 Defects in the complement system semapv:UnspecifiedMatching MONDO:0015137 periodic fever syndrome skos:exactMatch MEDGEN:855463 semapv:UnspecifiedMatching MONDO:0015137 periodic fever syndrome skos:exactMatch NCIT:C118240 Periodic Fever Syndrome semapv:UnspecifiedMatching MONDO:0015137 periodic fever syndrome skos:exactMatch Orphanet:101995 Periodic fever syndrome semapv:UnspecifiedMatching MONDO:0015137 periodic fever syndrome skos:exactMatch UMLS:C3889979 semapv:UnspecifiedMatching MONDO:0015139 obsolete rare epilepsy skos:exactMatch Orphanet:101998 Rare epilepsy semapv:UnspecifiedMatching MONDO:0015140 early-onset autosomal dominant Alzheimer disease skos:exactMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:UnspecifiedMatching MONDO:0015141 obsolete disorder of medulla oblongata skos:exactMatch Orphanet:102000 Medullar disease semapv:UnspecifiedMatching MONDO:0015143 obsolete rare movement disorder skos:exactMatch Orphanet:102003 Rare movement disorder semapv:UnspecifiedMatching MONDO:0015144 obsolete brain inflammatory disease skos:exactMatch Orphanet:102005 Brain inflammatory disease semapv:UnspecifiedMatching MONDO:0015145 obsolete neurovascular malformation skos:exactMatch Orphanet:102006 Neurovascular malformation semapv:UnspecifiedMatching MONDO:0015146 classic lissencephaly skos:exactMatch MEDGEN:98463 semapv:UnspecifiedMatching MONDO:0015146 classic lissencephaly skos:exactMatch Orphanet:102009 Classic lissencephaly semapv:UnspecifiedMatching MONDO:0015146 classic lissencephaly skos:exactMatch UMLS:C0431375 semapv:UnspecifiedMatching MONDO:0015146 classic lissencephaly skos:exactMatch icd11.foundation:570001324 Classic lissencephaly semapv:UnspecifiedMatching MONDO:0015147 obsolete other syndrome with lissencephaly as a major feature skos:exactMatch Orphanet:102010 Other syndrome with lissencephaly as a major feature semapv:UnspecifiedMatching MONDO:0015147 obsolete other syndrome with lissencephaly as a major feature skos:exactMatch icd11.foundation:805385297 Syndromes with lissencephaly as a major feature semapv:UnspecifiedMatching MONDO:0015148 lissencephaly type 3 skos:exactMatch DOID:0112232 lissencephaly 3 semapv:UnspecifiedMatching MONDO:0015148 lissencephaly type 3 skos:exactMatch MEDGEN:369910 semapv:UnspecifiedMatching MONDO:0015148 lissencephaly type 3 skos:exactMatch Orphanet:102011 Lissencephaly type 3 semapv:UnspecifiedMatching MONDO:0015148 lissencephaly type 3 skos:exactMatch UMLS:C1969029 semapv:UnspecifiedMatching MONDO:0015148 lissencephaly type 3 skos:exactMatch icd11.foundation:1533765623 Lissencephaly type 3 semapv:UnspecifiedMatching MONDO:0015149 pure hereditary spastic paraplegia skos:exactMatch MEDGEN:581445 semapv:UnspecifiedMatching MONDO:0015149 pure hereditary spastic paraplegia skos:exactMatch Orphanet:102012 Pure hereditary spastic paraplegia semapv:UnspecifiedMatching MONDO:0015149 pure hereditary spastic paraplegia skos:exactMatch SCTID:230260007 semapv:UnspecifiedMatching MONDO:0015149 pure hereditary spastic paraplegia skos:exactMatch UMLS:C0393555 semapv:UnspecifiedMatching MONDO:0015150 complex hereditary spastic paraplegia skos:exactMatch MEDGEN:581446 semapv:UnspecifiedMatching MONDO:0015150 complex hereditary spastic paraplegia skos:exactMatch Orphanet:102013 Complex hereditary spastic paraplegia semapv:UnspecifiedMatching MONDO:0015150 complex hereditary spastic paraplegia skos:exactMatch SCTID:230261006 semapv:UnspecifiedMatching MONDO:0015150 complex hereditary spastic paraplegia skos:exactMatch UMLS:C0393556 semapv:UnspecifiedMatching MONDO:0015151 muscular dystrophy, limb-girdle, autosomal dominant skos:exactMatch DOID:0110273 autosomal dominant limb-girdle muscular dystrophy semapv:UnspecifiedMatching MONDO:0015151 muscular dystrophy, limb-girdle, autosomal dominant skos:exactMatch MEDGEN:1826162 semapv:UnspecifiedMatching MONDO:0015151 muscular dystrophy, limb-girdle, autosomal dominant skos:exactMatch OMIMPS:603511 Muscular dystrophy, limb-girdle, autosomal dominant semapv:UnspecifiedMatching MONDO:0015151 muscular dystrophy, limb-girdle, autosomal dominant skos:exactMatch Orphanet:102014 Autosomal dominant limb-girdle muscular dystrophy semapv:UnspecifiedMatching MONDO:0015151 muscular dystrophy, limb-girdle, autosomal dominant skos:exactMatch UMLS:C5675009 semapv:UnspecifiedMatching MONDO:0015151 muscular dystrophy, limb-girdle, autosomal dominant skos:exactMatch icd11.foundation:537908479 Dominant limb-girdle muscular dystrophy semapv:UnspecifiedMatching MONDO:0015152 autosomal recessive limb-girdle muscular dystrophy skos:exactMatch DOID:0110274 autosomal recessive limb-girdle muscular dystrophy semapv:UnspecifiedMatching MONDO:0015152 autosomal recessive limb-girdle muscular dystrophy skos:exactMatch MEDGEN:419194 semapv:UnspecifiedMatching MONDO:0015152 autosomal recessive limb-girdle muscular dystrophy skos:exactMatch OMIMPS:253600 Muscular dystrophy, limb-girdle, autosomal recessive semapv:UnspecifiedMatching MONDO:0015152 autosomal recessive limb-girdle muscular dystrophy skos:exactMatch Orphanet:102015 Autosomal recessive limb-girdle muscular dystrophy semapv:UnspecifiedMatching MONDO:0015152 autosomal recessive limb-girdle muscular dystrophy skos:exactMatch UMLS:C2931907 semapv:UnspecifiedMatching MONDO:0015152 autosomal recessive limb-girdle muscular dystrophy skos:exactMatch icd11.foundation:319162980 Recessive limb-girdle muscular dystrophy semapv:UnspecifiedMatching MONDO:0015152 autosomal recessive limb-girdle muscular dystrophy skos:exactMatch mesh:C538640 semapv:UnspecifiedMatching MONDO:0015153 obsolete autosomal monosomy skos:exactMatch Orphanet:102020 Autosomal monosomy syndrome semapv:UnspecifiedMatching MONDO:0015157 human herpesvirus 8-related tumor skos:exactMatch MEDGEN:1843228 semapv:UnspecifiedMatching MONDO:0015157 human herpesvirus 8-related tumor skos:exactMatch NCIT:C27697 HHV8-Related Malignant Neoplasm semapv:UnspecifiedMatching MONDO:0015157 human herpesvirus 8-related tumor skos:exactMatch Orphanet:102024 Human herpesvirus 8-related disorder semapv:UnspecifiedMatching MONDO:0015157 human herpesvirus 8-related tumor skos:exactMatch UMLS:C5680371 semapv:UnspecifiedMatching MONDO:0015158 unexplained periodic fever syndrome skos:exactMatch MEDGEN:1842497 semapv:UnspecifiedMatching MONDO:0015158 unexplained periodic fever syndrome skos:exactMatch Orphanet:102237 Unexplained periodic fever syndrome semapv:UnspecifiedMatching MONDO:0015158 unexplained periodic fever syndrome skos:exactMatch UMLS:C5681779 semapv:UnspecifiedMatching MONDO:0015159 multiple congenital anomalies/dysmorphic syndrome-intellectual disability skos:exactMatch MEDGEN:1826158 semapv:UnspecifiedMatching MONDO:0015159 multiple congenital anomalies/dysmorphic syndrome-intellectual disability skos:exactMatch Orphanet:102283 Multiple congenital anomalies/dysmorphic syndrome-intellectual disability semapv:UnspecifiedMatching MONDO:0015159 multiple congenital anomalies/dysmorphic syndrome-intellectual disability skos:exactMatch UMLS:C5680372 semapv:UnspecifiedMatching MONDO:0015161 multiple congenital anomalies/dysmorphic syndrome without intellectual disability skos:exactMatch MEDGEN:1842829 semapv:UnspecifiedMatching MONDO:0015161 multiple congenital anomalies/dysmorphic syndrome without intellectual disability skos:exactMatch Orphanet:102285 Multiple congenital anomalies/dysmorphic syndrome without intellectual disability semapv:UnspecifiedMatching MONDO:0015161 multiple congenital anomalies/dysmorphic syndrome without intellectual disability skos:exactMatch UMLS:C5680373 semapv:UnspecifiedMatching MONDO:0015162 obsolete rare syndromic intellectual disability skos:exactMatch Orphanet:102369 Rare syndromic intellectual disability semapv:UnspecifiedMatching MONDO:0015163 obsolete primary glomerular disease skos:exactMatch Orphanet:102373 OBSOLETE: Primary glomerular disease semapv:UnspecifiedMatching MONDO:0015164 acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent skos:exactMatch MEDGEN:233970 semapv:UnspecifiedMatching MONDO:0015164 acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent skos:exactMatch NCIT:C27913 Alkylating Agent-Related Acute Myeloid Leukemia and Myelodysplastic Syndrome semapv:UnspecifiedMatching MONDO:0015164 acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent skos:exactMatch Orphanet:102379 Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent semapv:UnspecifiedMatching MONDO:0015164 acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent skos:exactMatch UMLS:C1332234 semapv:UnspecifiedMatching MONDO:0015164 acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent skos:exactMatch icd11.foundation:1401970160 Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent semapv:UnspecifiedMatching MONDO:0015165 acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor skos:exactMatch MEDGEN:1639654 semapv:UnspecifiedMatching MONDO:0015165 acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor skos:exactMatch Orphanet:102381 Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor semapv:UnspecifiedMatching MONDO:0015165 acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor skos:exactMatch UMLS:C4707659 semapv:UnspecifiedMatching MONDO:0015165 acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor skos:exactMatch icd11.foundation:88207494 Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor semapv:UnspecifiedMatching MONDO:0015166 acute myeloid leukemia with t(8;21)(q22;q22) translocation skos:exactMatch MEDGEN:224862 semapv:UnspecifiedMatching MONDO:0015166 acute myeloid leukemia with t(8;21)(q22;q22) translocation skos:exactMatch Orphanet:102724 Acute myeloid leukemia with t(8;21)(q22;q22) translocation semapv:UnspecifiedMatching MONDO:0015166 acute myeloid leukemia with t(8;21)(q22;q22) translocation skos:exactMatch UMLS:C1292774 semapv:UnspecifiedMatching MONDO:0015166 acute myeloid leukemia with t(8;21)(q22;q22) translocation skos:exactMatch icd11.foundation:1075154059 Acute myeloid leukemia with t(8;21)(q22;q22) translocation semapv:UnspecifiedMatching MONDO:0015167 amniotic band syndrome skos:exactMatch MEDGEN:66322 semapv:UnspecifiedMatching MONDO:0015167 amniotic band syndrome skos:exactMatch NCIT:C84552 Amniotic Band Syndrome semapv:UnspecifiedMatching MONDO:0015167 amniotic band syndrome skos:exactMatch OMIM:217100 constricting bands, congenital semapv:UnspecifiedMatching MONDO:0015167 amniotic band syndrome skos:exactMatch Orphanet:295000 Amniotic band syndrome semapv:UnspecifiedMatching MONDO:0015167 amniotic band syndrome skos:exactMatch SCTID:440214006 semapv:UnspecifiedMatching MONDO:0015167 amniotic band syndrome skos:exactMatch UMLS:C0220724 semapv:UnspecifiedMatching MONDO:0015167 amniotic band syndrome skos:exactMatch icd11.foundation:1033549095 Constriction rings semapv:UnspecifiedMatching MONDO:0015167 amniotic band syndrome skos:exactMatch mesh:D000652 semapv:UnspecifiedMatching MONDO:0015168 arthrogryposis multiplex congenita skos:exactMatch DOID:0080954 arthrogryposis multiplex congenita semapv:UnspecifiedMatching MONDO:0015168 arthrogryposis multiplex congenita skos:exactMatch ICD10CM:Q74.3 Arthrogryposis multiplex congenita semapv:UnspecifiedMatching MONDO:0015168 arthrogryposis multiplex congenita skos:exactMatch MEDGEN:1830310 semapv:UnspecifiedMatching MONDO:0015168 arthrogryposis multiplex congenita skos:exactMatch OMIMPS:617468 Arthrogryposis multiplex congenita semapv:UnspecifiedMatching MONDO:0015168 arthrogryposis multiplex congenita skos:exactMatch Orphanet:1037 Arthrogryposis multiplex congenita semapv:UnspecifiedMatching MONDO:0015168 arthrogryposis multiplex congenita skos:exactMatch UMLS:C5779613 semapv:UnspecifiedMatching MONDO:0015168 arthrogryposis multiplex congenita skos:exactMatch icd11.foundation:1930990330 Arthrogryposis multiplex congenita semapv:UnspecifiedMatching MONDO:0015169 chronic diarrhea due to glucoamylase deficiency skos:exactMatch MEDGEN:898614 semapv:UnspecifiedMatching MONDO:0015169 chronic diarrhea due to glucoamylase deficiency skos:exactMatch Orphanet:103907 Chronic diarrhea due to glucoamylase deficiency semapv:UnspecifiedMatching MONDO:0015169 chronic diarrhea due to glucoamylase deficiency skos:exactMatch SCTID:716277000 semapv:UnspecifiedMatching MONDO:0015169 chronic diarrhea due to glucoamylase deficiency skos:exactMatch UMLS:C4275068 semapv:UnspecifiedMatching MONDO:0015169 chronic diarrhea due to glucoamylase deficiency skos:exactMatch icd11.foundation:2084206046 Maltase-glucoamylase deficiency semapv:UnspecifiedMatching MONDO:0015170 congenital sodium diarrhea skos:exactMatch MEDGEN:78632 semapv:UnspecifiedMatching MONDO:0015170 congenital sodium diarrhea skos:exactMatch Orphanet:103908 Congenital sodium diarrhea semapv:UnspecifiedMatching MONDO:0015170 congenital sodium diarrhea skos:exactMatch SCTID:18805001 semapv:UnspecifiedMatching MONDO:0015170 congenital sodium diarrhea skos:exactMatch UMLS:C0267663 semapv:UnspecifiedMatching MONDO:0015171 congenital enterocyte heparan sulfate deficiency skos:exactMatch MEDGEN:1373054 semapv:UnspecifiedMatching MONDO:0015171 congenital enterocyte heparan sulfate deficiency skos:exactMatch Orphanet:103910 Congenital enterocyte heparan sulfate deficiency semapv:UnspecifiedMatching MONDO:0015171 congenital enterocyte heparan sulfate deficiency skos:exactMatch SCTID:725591002 semapv:UnspecifiedMatching MONDO:0015171 congenital enterocyte heparan sulfate deficiency skos:exactMatch UMLS:C4511238 semapv:UnspecifiedMatching MONDO:0015172 obsolete epithelio-exfoliative colitis-deafness syndrome skos:exactMatch Orphanet:103912 OBSOLETE: Epithelio-exfoliative colitis-deafness syndrome semapv:UnspecifiedMatching MONDO:0015173 obsolete autoimmune enteropathy type 2 skos:exactMatch Orphanet:103916 OBSOLETE: Autoimmune enteropathy type 2 semapv:UnspecifiedMatching MONDO:0015174 autoimmune enteropathy type 3 skos:exactMatch icd11.foundation:1137579941 Autoimmune enteropathy type 3 semapv:UnspecifiedMatching MONDO:0015175 autoimmune pancreatitis skos:exactMatch DOID:0040091 autoimmune pancreatitis semapv:UnspecifiedMatching MONDO:0015175 autoimmune pancreatitis skos:exactMatch MEDGEN:750633 semapv:UnspecifiedMatching MONDO:0015175 autoimmune pancreatitis skos:exactMatch Orphanet:103919 Autoimmune pancreatitis semapv:UnspecifiedMatching MONDO:0015175 autoimmune pancreatitis skos:exactMatch SCTID:448542008 semapv:UnspecifiedMatching MONDO:0015175 autoimmune pancreatitis skos:exactMatch UMLS:C2609129 semapv:UnspecifiedMatching MONDO:0015175 autoimmune pancreatitis skos:exactMatch icd11.foundation:2057951941 Autoimmune pancreatitis semapv:UnspecifiedMatching MONDO:0015175 autoimmune pancreatitis skos:exactMatch mesh:D000081012 semapv:UnspecifiedMatching MONDO:0015176 undetermined colitis skos:exactMatch MEDGEN:1842621 semapv:UnspecifiedMatching MONDO:0015176 undetermined colitis skos:exactMatch Orphanet:103920 Undetermined colitis semapv:UnspecifiedMatching MONDO:0015176 undetermined colitis skos:exactMatch UMLS:C5681748 semapv:UnspecifiedMatching MONDO:0015177 metaphyseal anadysplasia skos:exactMatch MEDGEN:96582 semapv:UnspecifiedMatching MONDO:0015177 metaphyseal anadysplasia skos:exactMatch Orphanet:1040 Metaphyseal anadysplasia semapv:UnspecifiedMatching MONDO:0015177 metaphyseal anadysplasia skos:exactMatch SCTID:254085009 semapv:UnspecifiedMatching MONDO:0015177 metaphyseal anadysplasia skos:exactMatch UMLS:C0432226 semapv:UnspecifiedMatching MONDO:0015177 metaphyseal anadysplasia skos:exactMatch icd11.foundation:327336919 Metaphyseal anadysplasia semapv:UnspecifiedMatching MONDO:0015177 metaphyseal anadysplasia skos:exactMatch mesh:C537351 semapv:UnspecifiedMatching MONDO:0015178 obsolete congenital intestinal transport defect skos:exactMatch Orphanet:104003 Congenital intestinal transport defect semapv:UnspecifiedMatching MONDO:0015178 obsolete congenital intestinal transport defect skos:exactMatch icd11.foundation:671778206 Congenital intestinal transport defect semapv:UnspecifiedMatching MONDO:0015179 obsolete intestinal disease due to vitamin absorption anomaly skos:exactMatch Orphanet:104004 Intestinal disease due to vitamin absorption anomaly semapv:UnspecifiedMatching MONDO:0015180 obsolete intestinal disease due to fat malabsorption skos:exactMatch Orphanet:104005 Intestinal disease due to fat malabsorption semapv:UnspecifiedMatching MONDO:0015181 obsolete congenital intestinal disease due to an enzymatic defect skos:exactMatch Orphanet:104006 Congenital intestinal disease due to an enzymatic defect semapv:UnspecifiedMatching MONDO:0015182 obsolete congenital enteropathy involving intestinal mucosa development skos:exactMatch Orphanet:104007 Congenital enteropathy involving intestinal mucosa development semapv:UnspecifiedMatching MONDO:0015183 short bowel syndrome skos:exactMatch DOID:10605 short bowel syndrome semapv:UnspecifiedMatching MONDO:0015183 short bowel syndrome skos:exactMatch MEDGEN:19966 semapv:UnspecifiedMatching MONDO:0015183 short bowel syndrome skos:exactMatch NCIT:C99059 Short Bowel Syndrome semapv:UnspecifiedMatching MONDO:0015183 short bowel syndrome skos:exactMatch Orphanet:104008 Short bowel syndrome semapv:UnspecifiedMatching MONDO:0015183 short bowel syndrome skos:exactMatch SCTID:26629001 semapv:UnspecifiedMatching MONDO:0015183 short bowel syndrome skos:exactMatch UMLS:C0036992 semapv:UnspecifiedMatching MONDO:0015183 short bowel syndrome skos:exactMatch icd11.foundation:780637678 Short bowel syndrome semapv:UnspecifiedMatching MONDO:0015183 short bowel syndrome skos:exactMatch mesh:D012778 semapv:UnspecifiedMatching MONDO:0015184 obsolete rare disease involving intestinal motility skos:exactMatch Orphanet:104009 Rare disease involving intestinal motility semapv:UnspecifiedMatching MONDO:0015185 intestinal polyposis syndrome skos:exactMatch MEDGEN:577190 semapv:UnspecifiedMatching MONDO:0015185 intestinal polyposis syndrome skos:exactMatch NCIT:C155954 Intestinal Polyposis Syndrome semapv:UnspecifiedMatching MONDO:0015185 intestinal polyposis syndrome skos:exactMatch Orphanet:104010 Intestinal polyposis syndrome semapv:UnspecifiedMatching MONDO:0015185 intestinal polyposis syndrome skos:exactMatch SCTID:254589009 semapv:UnspecifiedMatching MONDO:0015185 intestinal polyposis syndrome skos:exactMatch UMLS:C0345891 semapv:UnspecifiedMatching MONDO:0015186 obsolete rare tumor of intestine skos:exactMatch Orphanet:104011 Rare tumor of intestine semapv:UnspecifiedMatching MONDO:0015187 obsolete rare inflammatory bowel disease skos:exactMatch Orphanet:104012 Rare inflammatory bowel disease semapv:UnspecifiedMatching MONDO:0015188 obsolete metabolic disorder with intestinal involvement skos:exactMatch Orphanet:104013 Metabolic disease with intestinal involvement semapv:UnspecifiedMatching MONDO:0015191 myopathic intestinal pseudoobstruction skos:exactMatch MEDGEN:1843444 semapv:UnspecifiedMatching MONDO:0015191 myopathic intestinal pseudoobstruction skos:exactMatch Orphanet:104077 Myopathic intestinal pseudoobstruction semapv:UnspecifiedMatching MONDO:0015191 myopathic intestinal pseudoobstruction skos:exactMatch UMLS:C5681739 semapv:UnspecifiedMatching MONDO:0015191 myopathic intestinal pseudoobstruction skos:exactMatch icd11.foundation:1007742014 Myopathic intestinal pseudoobstruction semapv:UnspecifiedMatching MONDO:0015192 obsolete unclassified intestinal pseudoobstruction skos:exactMatch Orphanet:104078 Unclassified intestinal pseudoobstruction semapv:UnspecifiedMatching MONDO:0015193 hydrops fetalis skos:exactMatch MEDGEN:6947 semapv:UnspecifiedMatching MONDO:0015193 hydrops fetalis skos:exactMatch NCIT:C84767 Hydrops Fetalis semapv:UnspecifiedMatching MONDO:0015193 hydrops fetalis skos:exactMatch Orphanet:1041 Hydrops fetalis semapv:UnspecifiedMatching MONDO:0015193 hydrops fetalis skos:exactMatch SCTID:276508000 semapv:UnspecifiedMatching MONDO:0015193 hydrops fetalis skos:exactMatch UMLS:C0020305 semapv:UnspecifiedMatching MONDO:0015193 hydrops fetalis skos:exactMatch mesh:D015160 semapv:UnspecifiedMatching MONDO:0015194 sideroblastic anemia skos:exactMatch DOID:8955 sideroblastic anemia semapv:UnspecifiedMatching MONDO:0015194 sideroblastic anemia skos:exactMatch MEDGEN:8067 semapv:UnspecifiedMatching MONDO:0015194 sideroblastic anemia skos:exactMatch NCIT:C36078 Sideroblastic Anemia semapv:UnspecifiedMatching MONDO:0015194 sideroblastic anemia skos:exactMatch Orphanet:1047 Sideroblastic anemia semapv:UnspecifiedMatching MONDO:0015194 sideroblastic anemia skos:exactMatch SCTID:41841004 semapv:UnspecifiedMatching MONDO:0015194 sideroblastic anemia skos:exactMatch UMLS:C0002896 semapv:UnspecifiedMatching MONDO:0015194 sideroblastic anemia skos:exactMatch mesh:D000756 semapv:UnspecifiedMatching MONDO:0015195 atresia of urethra skos:exactMatch MEDGEN:576882 semapv:UnspecifiedMatching MONDO:0015195 atresia of urethra skos:exactMatch Orphanet:105 Atresia of urethra semapv:UnspecifiedMatching MONDO:0015195 atresia of urethra skos:exactMatch SCTID:253902002 semapv:UnspecifiedMatching MONDO:0015195 atresia of urethra skos:exactMatch UMLS:C0345345 semapv:UnspecifiedMatching MONDO:0015196 vein of Galen aneurysm skos:exactMatch MEDGEN:140912 semapv:UnspecifiedMatching MONDO:0015196 vein of Galen aneurysm skos:exactMatch NCIT:C98642 Vein of Galen Malformation semapv:UnspecifiedMatching MONDO:0015196 vein of Galen aneurysm skos:exactMatch Orphanet:1053 Vein of Galen aneurysmal malformation semapv:UnspecifiedMatching MONDO:0015196 vein of Galen aneurysm skos:exactMatch SCTID:253194008 semapv:UnspecifiedMatching MONDO:0015196 vein of Galen aneurysm skos:exactMatch UMLS:C0431420 semapv:UnspecifiedMatching MONDO:0015196 vein of Galen aneurysm skos:exactMatch icd11.foundation:1884295064 Vein of Galen aneurysm semapv:UnspecifiedMatching MONDO:0015196 vein of Galen aneurysm skos:exactMatch mesh:C536535 semapv:UnspecifiedMatching MONDO:0015197 aneurysm of sinus of Valsalva skos:exactMatch MEDGEN:853730 semapv:UnspecifiedMatching MONDO:0015197 aneurysm of sinus of Valsalva skos:exactMatch Orphanet:1054 Aneurysm of sinus of Valsalva semapv:UnspecifiedMatching MONDO:0015197 aneurysm of sinus of Valsalva skos:exactMatch SCTID:54160000 semapv:UnspecifiedMatching MONDO:0015197 aneurysm of sinus of Valsalva skos:exactMatch UMLS:C2239253 semapv:UnspecifiedMatching MONDO:0015197 aneurysm of sinus of Valsalva skos:exactMatch icd11.foundation:364348641 Aneurysm of aortic sinus of Valsalva semapv:UnspecifiedMatching MONDO:0015198 aniridia-ptosis-intellectual disability-familial obesity syndrome skos:exactMatch MEDGEN:929405 semapv:UnspecifiedMatching MONDO:0015198 aniridia-ptosis-intellectual disability-familial obesity syndrome skos:exactMatch Orphanet:1067 Aniridia-ptosis-intellectual disability-familial obesity syndrome semapv:UnspecifiedMatching MONDO:0015198 aniridia-ptosis-intellectual disability-familial obesity syndrome skos:exactMatch SCTID:720987001 semapv:UnspecifiedMatching MONDO:0015198 aniridia-ptosis-intellectual disability-familial obesity syndrome skos:exactMatch UMLS:C4303736 semapv:UnspecifiedMatching MONDO:0015199 aniridia - intellectual disability syndrome skos:exactMatch MEDGEN:419752 semapv:UnspecifiedMatching MONDO:0015199 aniridia - intellectual disability syndrome skos:exactMatch Orphanet:1068 Aniridia-intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0015199 aniridia - intellectual disability syndrome skos:exactMatch UMLS:C2931243 semapv:UnspecifiedMatching MONDO:0015199 aniridia - intellectual disability syndrome skos:exactMatch mesh:C536568 semapv:UnspecifiedMatching MONDO:0015200 anisakiasis skos:exactMatch DOID:7033 anisakiasis semapv:UnspecifiedMatching MONDO:0015200 anisakiasis skos:exactMatch EFO:0007146 semapv:UnspecifiedMatching MONDO:0015200 anisakiasis skos:exactMatch ICD10CM:B81.0 Anisakiasis semapv:UnspecifiedMatching MONDO:0015200 anisakiasis skos:exactMatch MEDGEN:102418 semapv:UnspecifiedMatching MONDO:0015200 anisakiasis skos:exactMatch NCIT:C128393 Anisakiasis semapv:UnspecifiedMatching MONDO:0015200 anisakiasis skos:exactMatch Orphanet:1070 Anisakiasis semapv:UnspecifiedMatching MONDO:0015200 anisakiasis skos:exactMatch SCTID:442652006 semapv:UnspecifiedMatching MONDO:0015200 anisakiasis skos:exactMatch UMLS:C0162576 semapv:UnspecifiedMatching MONDO:0015200 anisakiasis skos:exactMatch icd11.foundation:2005274000 Anisakiasis semapv:UnspecifiedMatching MONDO:0015200 anisakiasis skos:exactMatch mesh:D017129 semapv:UnspecifiedMatching MONDO:0015201 ankyloblepharon filiforme-imperforate anus syndrome skos:exactMatch MEDGEN:1666000 semapv:UnspecifiedMatching MONDO:0015201 ankyloblepharon filiforme-imperforate anus syndrome skos:exactMatch Orphanet:1074 Ankyloblepharon filiforme adnatum-imperforate anus syndrome semapv:UnspecifiedMatching MONDO:0015201 ankyloblepharon filiforme-imperforate anus syndrome skos:exactMatch UMLS:C4751231 semapv:UnspecifiedMatching MONDO:0015203 coronary artery congenital malformation skos:exactMatch DOID:11843 coronary artery anomaly semapv:UnspecifiedMatching MONDO:0015203 coronary artery congenital malformation skos:exactMatch MEDGEN:1612789 semapv:UnspecifiedMatching MONDO:0015203 coronary artery congenital malformation skos:exactMatch Orphanet:1081 Coronary artery congenital malformation semapv:UnspecifiedMatching MONDO:0015203 coronary artery congenital malformation skos:exactMatch SCTID:28574005 semapv:UnspecifiedMatching MONDO:0015203 coronary artery congenital malformation skos:exactMatch UMLS:C4531298 semapv:UnspecifiedMatching MONDO:0015203 coronary artery congenital malformation skos:exactMatch icd11.foundation:902783759 Congenital anomaly of coronary artery semapv:UnspecifiedMatching MONDO:0015204 microlissencephaly skos:exactMatch DOID:0112234 microlissencephaly semapv:UnspecifiedMatching MONDO:0015204 microlissencephaly skos:exactMatch MEDGEN:365439 semapv:UnspecifiedMatching MONDO:0015204 microlissencephaly skos:exactMatch Orphanet:1083 Microlissencephaly semapv:UnspecifiedMatching MONDO:0015204 microlissencephaly skos:exactMatch UMLS:C1956147 semapv:UnspecifiedMatching MONDO:0015204 microlissencephaly skos:exactMatch icd11.foundation:169315445 Microlissencephaly semapv:UnspecifiedMatching MONDO:0015205 isolated lissencephaly type 1 without known genetic defects skos:exactMatch MEDGEN:895946 semapv:UnspecifiedMatching MONDO:0015205 isolated lissencephaly type 1 without known genetic defects skos:exactMatch Orphanet:1084 Isolated lissencephaly type 1 without known genetic defects semapv:UnspecifiedMatching MONDO:0015205 isolated lissencephaly type 1 without known genetic defects skos:exactMatch SCTID:715406003 semapv:UnspecifiedMatching MONDO:0015205 isolated lissencephaly type 1 without known genetic defects skos:exactMatch UMLS:C4275151 semapv:UnspecifiedMatching MONDO:0015205 isolated lissencephaly type 1 without known genetic defects skos:exactMatch icd11.foundation:80358651 Isolated lissencephaly type 1 without known genetic defects semapv:UnspecifiedMatching MONDO:0015206 short stature-heart defect-craniofacial anomalies syndrome skos:exactMatch MEDGEN:419321 semapv:UnspecifiedMatching MONDO:0015206 short stature-heart defect-craniofacial anomalies syndrome skos:exactMatch UMLS:C2931050 semapv:UnspecifiedMatching MONDO:0015206 short stature-heart defect-craniofacial anomalies syndrome skos:exactMatch mesh:C535871 semapv:UnspecifiedMatching MONDO:0015207 obsolete non-syndromic esophageal malformation skos:exactMatch Orphanet:108959 Non-syndromic esophageal malformation semapv:UnspecifiedMatching MONDO:0015208 obsolete syndromic esophageal malformation skos:exactMatch Orphanet:108961 Syndromic esophageal malformation semapv:UnspecifiedMatching MONDO:0015209 obsolete non-syndromic gastroduodenal malformation skos:exactMatch Orphanet:108963 Non-syndromic gastroduodenal malformation semapv:UnspecifiedMatching MONDO:0015210 obsolete syndromic gastroduodenal malformation skos:exactMatch Orphanet:108965 Syndromic gastroduodenal malformation semapv:UnspecifiedMatching MONDO:0015211 obsolete non-syndromic intestinal malformation skos:exactMatch Orphanet:108967 Non-syndromic intestinal malformation semapv:UnspecifiedMatching MONDO:0015212 obsolete syndromic intestinal malformation skos:exactMatch Orphanet:108969 Syndromic intestinal malformation semapv:UnspecifiedMatching MONDO:0015213 obsolete non-syndromic visceral malformation skos:exactMatch Orphanet:108971 Non-syndromic visceral malformation of the liver, biliary tract, pancreas or spleen semapv:UnspecifiedMatching MONDO:0015214 obsolete syndromic visceral malformation skos:exactMatch Orphanet:108973 Syndromic visceral malformation of the liver, biliary tract, pancreas or spleen semapv:UnspecifiedMatching MONDO:0015215 obsolete non-syndromic diaphragmatic or abdominal wall malformation skos:exactMatch Orphanet:108977 Non-syndromic diaphragmatic or abdominal wall malformation semapv:UnspecifiedMatching MONDO:0015216 obsolete syndromic diaphragmatic or abdominal wall malformation skos:exactMatch Orphanet:108979 Syndromic diaphragmatic or abdominal wall malformation semapv:UnspecifiedMatching MONDO:0015217 obsolete non-syndromic developmental defect of the eye skos:exactMatch Orphanet:108985 OBSOLETE: Non-syndromic developmental defect of the eye semapv:UnspecifiedMatching MONDO:0015218 obsolete syndromic developmental defect of the eye skos:exactMatch Orphanet:108987 OBSOLETE: Syndromic developmental defect of the eye semapv:UnspecifiedMatching MONDO:0015219 obsolete non-syndromic central nervous system malformation skos:exactMatch Orphanet:108989 Non-syndromic central nervous system malformation semapv:UnspecifiedMatching MONDO:0015220 obsolete syndrome with a central nervous system malformation as major feature skos:exactMatch Orphanet:108991 Syndrome with a central nervous system malformation as a major feature semapv:UnspecifiedMatching MONDO:0015221 obsolete non-syndromic respiratory or mediastinal malformation skos:exactMatch Orphanet:108993 Non-syndromic respiratory or mediastinal malformation semapv:UnspecifiedMatching MONDO:0015222 obsolete syndromic respiratory or mediastinal malformation skos:exactMatch Orphanet:108995 Syndromic respiratory or mediastinal malformation semapv:UnspecifiedMatching MONDO:0015223 obsolete rare anemia skos:exactMatch Orphanet:108997 Rare anemia semapv:UnspecifiedMatching MONDO:0015224 obsolete rare intoxication skos:exactMatch Orphanet:108999 Rare disorder due to toxic effects semapv:UnspecifiedMatching MONDO:0015225 arthrogryposis syndrome skos:exactMatch Orphanet:109007 Arthrogryposis syndrome semapv:UnspecifiedMatching MONDO:0015225 arthrogryposis syndrome skos:exactMatch icd11.foundation:1692487835 Arthrogryposis syndromes semapv:UnspecifiedMatching MONDO:0015226 obsolete syndrome with limb malformations as a major feature skos:exactMatch Orphanet:109009 Syndrome with limb malformations as a major feature semapv:UnspecifiedMatching MONDO:0015227 obsolete non-syndromic limb malformation skos:exactMatch Orphanet:109011 Non-syndromic limb malformation semapv:UnspecifiedMatching MONDO:0015228 pentasomy X skos:exactMatch MEDGEN:423649 semapv:UnspecifiedMatching MONDO:0015228 pentasomy X skos:exactMatch NCIT:C89802 Penta X Syndrome semapv:UnspecifiedMatching MONDO:0015228 pentasomy X skos:exactMatch Orphanet:11 Pentasomy X syndrome semapv:UnspecifiedMatching MONDO:0015228 pentasomy X skos:exactMatch SCTID:43248007 semapv:UnspecifiedMatching MONDO:0015228 pentasomy X skos:exactMatch UMLS:C2937419 semapv:UnspecifiedMatching MONDO:0015228 pentasomy X skos:exactMatch icd11.foundation:2087864894 Pentasomy X semapv:UnspecifiedMatching MONDO:0015228 pentasomy X skos:exactMatch mesh:C535319 semapv:UnspecifiedMatching MONDO:0015229 Bardet-Biedl syndrome skos:exactMatch DOID:1935 Bardet-Biedl syndrome semapv:UnspecifiedMatching MONDO:0015229 Bardet-Biedl syndrome skos:exactMatch MEDGEN:156019 semapv:UnspecifiedMatching MONDO:0015229 Bardet-Biedl syndrome skos:exactMatch NCIT:C118632 Bardet-Biedl Syndrome semapv:UnspecifiedMatching MONDO:0015229 Bardet-Biedl syndrome skos:exactMatch OMIMPS:209900 Bardet-Biedl syndrome semapv:UnspecifiedMatching MONDO:0015229 Bardet-Biedl syndrome skos:exactMatch Orphanet:110 Bardet-Biedl syndrome semapv:UnspecifiedMatching MONDO:0015229 Bardet-Biedl syndrome skos:exactMatch SCTID:5619004 semapv:UnspecifiedMatching MONDO:0015229 Bardet-Biedl syndrome skos:exactMatch UMLS:C0752166 semapv:UnspecifiedMatching MONDO:0015229 Bardet-Biedl syndrome skos:exactMatch icd11.foundation:255526264 Bardet-Biedl syndrome semapv:UnspecifiedMatching MONDO:0015229 Bardet-Biedl syndrome skos:exactMatch mesh:D020788 semapv:UnspecifiedMatching MONDO:0015230 anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome skos:exactMatch MEDGEN:929704 semapv:UnspecifiedMatching MONDO:0015230 anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome skos:exactMatch Orphanet:1101 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome semapv:UnspecifiedMatching MONDO:0015230 anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome skos:exactMatch SCTID:720495005 semapv:UnspecifiedMatching MONDO:0015230 anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome skos:exactMatch UMLS:C4304035 semapv:UnspecifiedMatching MONDO:0015231 Bartter syndrome skos:exactMatch DOID:445 Bartter disease semapv:UnspecifiedMatching MONDO:0015231 Bartter syndrome skos:exactMatch ICD10CM:E26.81 Bartter's syndrome semapv:UnspecifiedMatching MONDO:0015231 Bartter syndrome skos:exactMatch MEDGEN:2172 semapv:UnspecifiedMatching MONDO:0015231 Bartter syndrome skos:exactMatch NCIT:C34412 Bartter Syndrome semapv:UnspecifiedMatching MONDO:0015231 Bartter syndrome skos:exactMatch OMIMPS:601678 Bartter syndrome semapv:UnspecifiedMatching MONDO:0015231 Bartter syndrome skos:exactMatch Orphanet:112 Bartter syndrome semapv:UnspecifiedMatching MONDO:0015231 Bartter syndrome skos:exactMatch SCTID:707742001 semapv:UnspecifiedMatching MONDO:0015231 Bartter syndrome skos:exactMatch UMLS:C0004775 semapv:UnspecifiedMatching MONDO:0015231 Bartter syndrome skos:exactMatch icd11.foundation:777233947 Bartter syndrome semapv:UnspecifiedMatching MONDO:0015231 Bartter syndrome skos:exactMatch mesh:D001477 semapv:UnspecifiedMatching MONDO:0015232 radial deficiency-tibial hypoplasia syndrome skos:exactMatch MEDGEN:1682367 semapv:UnspecifiedMatching MONDO:0015232 radial deficiency-tibial hypoplasia syndrome skos:exactMatch Orphanet:1121 Radial deficiency-tibial hypoplasia syndrome semapv:UnspecifiedMatching MONDO:0015232 radial deficiency-tibial hypoplasia syndrome skos:exactMatch UMLS:C5190823 semapv:UnspecifiedMatching MONDO:0015233 caudal appendage-deafness syndrome skos:exactMatch MEDGEN:419843 semapv:UnspecifiedMatching MONDO:0015233 caudal appendage-deafness syndrome skos:exactMatch Orphanet:1123 Caudal appendage-deafness syndrome semapv:UnspecifiedMatching MONDO:0015233 caudal appendage-deafness syndrome skos:exactMatch SCTID:726621009 semapv:UnspecifiedMatching MONDO:0015233 caudal appendage-deafness syndrome skos:exactMatch UMLS:C2931593 semapv:UnspecifiedMatching MONDO:0015233 caudal appendage-deafness syndrome skos:exactMatch mesh:C537713 semapv:UnspecifiedMatching MONDO:0015234 arachnodactyly-abnormal ossification-intellectual disability syndrome skos:exactMatch MEDGEN:419792 semapv:UnspecifiedMatching MONDO:0015234 arachnodactyly-abnormal ossification-intellectual disability syndrome skos:exactMatch Orphanet:1129 Arachnodactyly-abnormal ossification-intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0015234 arachnodactyly-abnormal ossification-intellectual disability syndrome skos:exactMatch SCTID:720501007 semapv:UnspecifiedMatching MONDO:0015234 arachnodactyly-abnormal ossification-intellectual disability syndrome skos:exactMatch UMLS:C2931398 semapv:UnspecifiedMatching MONDO:0015234 arachnodactyly-abnormal ossification-intellectual disability syndrome skos:exactMatch mesh:C537024 semapv:UnspecifiedMatching MONDO:0015235 arachnodactyly-intellectual disability-dysmorphism syndrome skos:exactMatch MEDGEN:929699 semapv:UnspecifiedMatching MONDO:0015235 arachnodactyly-intellectual disability-dysmorphism syndrome skos:exactMatch Orphanet:1130 Arachnodactyly-intellectual disability-dysmorphism syndrome semapv:UnspecifiedMatching MONDO:0015235 arachnodactyly-intellectual disability-dysmorphism syndrome skos:exactMatch SCTID:720502000 semapv:UnspecifiedMatching MONDO:0015235 arachnodactyly-intellectual disability-dysmorphism syndrome skos:exactMatch UMLS:C4304030 semapv:UnspecifiedMatching MONDO:0015236 aortic arch defects skos:exactMatch MEDGEN:1842770 semapv:UnspecifiedMatching MONDO:0015236 aortic arch defects skos:exactMatch Orphanet:1132 Aortic arch defects semapv:UnspecifiedMatching MONDO:0015236 aortic arch defects skos:exactMatch UMLS:C5680872 semapv:UnspecifiedMatching MONDO:0015237 arrhinia skos:exactMatch MEDGEN:120555 semapv:UnspecifiedMatching MONDO:0015237 arrhinia skos:exactMatch Orphanet:1134 Isolated arrhinia semapv:UnspecifiedMatching MONDO:0015237 arrhinia skos:exactMatch SCTID:111317000 semapv:UnspecifiedMatching MONDO:0015237 arrhinia skos:exactMatch UMLS:C0265740 semapv:UnspecifiedMatching MONDO:0015237 arrhinia skos:exactMatch icd11.foundation:409489963 Arrhinia semapv:UnspecifiedMatching MONDO:0015237 arrhinia skos:exactMatch mesh:C537438 semapv:UnspecifiedMatching MONDO:0015239 abnormal origin of the pulmonary artery skos:exactMatch MEDGEN:539573 semapv:UnspecifiedMatching MONDO:0015239 abnormal origin of the pulmonary artery skos:exactMatch Orphanet:1138 Abnormal origin of the pulmonary artery semapv:UnspecifiedMatching MONDO:0015239 abnormal origin of the pulmonary artery skos:exactMatch SCTID:68092007 semapv:UnspecifiedMatching MONDO:0015239 abnormal origin of the pulmonary artery skos:exactMatch UMLS:C0265912 semapv:UnspecifiedMatching MONDO:0015239 abnormal origin of the pulmonary artery skos:exactMatch icd11.foundation:953235173 Congenital anomaly of pulmonary arterial tree semapv:UnspecifiedMatching MONDO:0015240 digitotalar dysmorphism skos:exactMatch DOID:0111596 distal arthrogryposis type 1 semapv:UnspecifiedMatching MONDO:0015240 digitotalar dysmorphism skos:exactMatch Orphanet:1146 Distal arthrogryposis type 1 semapv:UnspecifiedMatching MONDO:0015240 digitotalar dysmorphism skos:exactMatch icd11.foundation:1679749810 Digitotalar dysmorphism semapv:UnspecifiedMatching MONDO:0015240 digitotalar dysmorphism skos:exactMatch mesh:C565097 semapv:UnspecifiedMatching MONDO:0015241 arthrogryposis-like syndrome skos:exactMatch MEDGEN:349229 semapv:UnspecifiedMatching MONDO:0015241 arthrogryposis-like syndrome skos:exactMatch Orphanet:1149 Kuskokwim syndrome semapv:UnspecifiedMatching MONDO:0015241 arthrogryposis-like syndrome skos:exactMatch SCTID:702447002 semapv:UnspecifiedMatching MONDO:0015241 arthrogryposis-like syndrome skos:exactMatch UMLS:C1859709 semapv:UnspecifiedMatching MONDO:0015243 allergic bronchopulmonary aspergillosis skos:exactMatch DOID:13166 allergic bronchopulmonary aspergillosis semapv:UnspecifiedMatching MONDO:0015243 allergic bronchopulmonary aspergillosis skos:exactMatch EFO:0007140 semapv:UnspecifiedMatching MONDO:0015243 allergic bronchopulmonary aspergillosis skos:exactMatch ICD10CM:B44.81 Allergic bronchopulmonary aspergillosis semapv:UnspecifiedMatching MONDO:0015243 allergic bronchopulmonary aspergillosis skos:exactMatch MEDGEN:479932 semapv:UnspecifiedMatching MONDO:0015243 allergic bronchopulmonary aspergillosis skos:exactMatch NCIT:C84547 Allergic Bronchopulmonary Aspergillosis semapv:UnspecifiedMatching MONDO:0015243 allergic bronchopulmonary aspergillosis skos:exactMatch OMIM:103920 allergic bronchopulmonary aspergillosis, familial semapv:UnspecifiedMatching MONDO:0015243 allergic bronchopulmonary aspergillosis skos:exactMatch Orphanet:1164 Allergic bronchopulmonary aspergillosis semapv:UnspecifiedMatching MONDO:0015243 allergic bronchopulmonary aspergillosis skos:exactMatch SCTID:37981002 semapv:UnspecifiedMatching MONDO:0015243 allergic bronchopulmonary aspergillosis skos:exactMatch UMLS:C3278302 semapv:UnspecifiedMatching MONDO:0015243 allergic bronchopulmonary aspergillosis skos:exactMatch icd11.foundation:1591607082 Allergic bronchopulmonary aspergillosis semapv:UnspecifiedMatching MONDO:0015243 allergic bronchopulmonary aspergillosis skos:exactMatch mesh:D001229 semapv:UnspecifiedMatching MONDO:0015244 autosomal recessive cerebellar ataxia skos:exactMatch DOID:0050950 autosomal recessive cerebellar ataxia semapv:UnspecifiedMatching MONDO:0015244 autosomal recessive cerebellar ataxia skos:exactMatch MEDGEN:1843058 semapv:UnspecifiedMatching MONDO:0015244 autosomal recessive cerebellar ataxia skos:exactMatch OMIMPS:213200 Spinocerebellar ataxia, autosomal recessive semapv:UnspecifiedMatching MONDO:0015244 autosomal recessive cerebellar ataxia skos:exactMatch Orphanet:1172 Autosomal recessive cerebellar ataxia semapv:UnspecifiedMatching MONDO:0015244 autosomal recessive cerebellar ataxia skos:exactMatch UMLS:C5575375 semapv:UnspecifiedMatching MONDO:0015245 obsolete rare intestinal disease skos:exactMatch Orphanet:117569 Rare intestinal disease semapv:UnspecifiedMatching MONDO:0015246 obsolete syndromic anorectal malformation skos:exactMatch Orphanet:117573 Syndromic anorectal malformation semapv:UnspecifiedMatching MONDO:0015247 opsoclonus-myoclonus syndrome skos:exactMatch EFO:1001383 semapv:UnspecifiedMatching MONDO:0015247 opsoclonus-myoclonus syndrome skos:exactMatch MEDGEN:97955 semapv:UnspecifiedMatching MONDO:0015247 opsoclonus-myoclonus syndrome skos:exactMatch NCIT:C4686 Opsoclonus Myoclonus Syndrome semapv:UnspecifiedMatching MONDO:0015247 opsoclonus-myoclonus syndrome skos:exactMatch Orphanet:1183 Opsoclonus-myoclonus syndrome semapv:UnspecifiedMatching MONDO:0015247 opsoclonus-myoclonus syndrome skos:exactMatch SCTID:230350000 semapv:UnspecifiedMatching MONDO:0015247 opsoclonus-myoclonus syndrome skos:exactMatch UMLS:C0393626 semapv:UnspecifiedMatching MONDO:0015247 opsoclonus-myoclonus syndrome skos:exactMatch mesh:D053578 semapv:UnspecifiedMatching MONDO:0015248 ataxia-photosensitivity-short stature syndrome skos:exactMatch MEDGEN:1655873 semapv:UnspecifiedMatching MONDO:0015248 ataxia-photosensitivity-short stature syndrome skos:exactMatch Orphanet:1184 Ataxia-photosensitivity-short stature syndrome semapv:UnspecifiedMatching MONDO:0015248 ataxia-photosensitivity-short stature syndrome skos:exactMatch UMLS:C4751230 semapv:UnspecifiedMatching MONDO:0015249 mitral atresia disorder skos:exactMatch MEDGEN:91035 semapv:UnspecifiedMatching MONDO:0015249 mitral atresia disorder skos:exactMatch NCIT:C98992 Mitral Valve Atresia semapv:UnspecifiedMatching MONDO:0015249 mitral atresia disorder skos:exactMatch Orphanet:1205 Mitral atresia semapv:UnspecifiedMatching MONDO:0015249 mitral atresia disorder skos:exactMatch SCTID:23063005 semapv:UnspecifiedMatching MONDO:0015249 mitral atresia disorder skos:exactMatch UMLS:C0344760 semapv:UnspecifiedMatching MONDO:0015249 mitral atresia disorder skos:exactMatch icd11.foundation:6462604 Mitral atresia semapv:UnspecifiedMatching MONDO:0015250 spinal atrophy-ophthalmoplegia-pyramidal syndrome skos:exactMatch MEDGEN:419294 semapv:UnspecifiedMatching MONDO:0015250 spinal atrophy-ophthalmoplegia-pyramidal syndrome skos:exactMatch Orphanet:1217 Spinal atrophy-ophthalmoplegia-pyramidal syndrome semapv:UnspecifiedMatching MONDO:0015250 spinal atrophy-ophthalmoplegia-pyramidal syndrome skos:exactMatch UMLS:C2930956 semapv:UnspecifiedMatching MONDO:0015250 spinal atrophy-ophthalmoplegia-pyramidal syndrome skos:exactMatch mesh:C535625 semapv:UnspecifiedMatching MONDO:0015252 severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome skos:exactMatch MEDGEN:1682668 semapv:UnspecifiedMatching MONDO:0015252 severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome skos:exactMatch Orphanet:1236 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome semapv:UnspecifiedMatching MONDO:0015252 severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome skos:exactMatch UMLS:C5190778 semapv:UnspecifiedMatching MONDO:0015253 Diamond-Blackfan anemia skos:exactMatch DOID:1339 Diamond-Blackfan anemia semapv:UnspecifiedMatching MONDO:0015253 Diamond-Blackfan anemia skos:exactMatch MEDGEN:266045 semapv:UnspecifiedMatching MONDO:0015253 Diamond-Blackfan anemia skos:exactMatch NCIT:C61236 Diamond-Blackfan Anemia semapv:UnspecifiedMatching MONDO:0015253 Diamond-Blackfan anemia skos:exactMatch OMIMPS:105650 Diamond-Blackfan anemia semapv:UnspecifiedMatching MONDO:0015253 Diamond-Blackfan anemia skos:exactMatch Orphanet:124 Diamond-Blackfan anemia semapv:UnspecifiedMatching MONDO:0015253 Diamond-Blackfan anemia skos:exactMatch SCTID:88854002 semapv:UnspecifiedMatching MONDO:0015253 Diamond-Blackfan anemia skos:exactMatch UMLS:C1260899 semapv:UnspecifiedMatching MONDO:0015253 Diamond-Blackfan anemia skos:exactMatch mesh:D029503 semapv:UnspecifiedMatching MONDO:0015254 schistosomiasis skos:exactMatch DOID:1395 schistosomiasis semapv:UnspecifiedMatching MONDO:0015254 schistosomiasis skos:exactMatch EFO:1001475 semapv:UnspecifiedMatching MONDO:0015254 schistosomiasis skos:exactMatch ICD10CM:B65 Schistosomiasis [bilharziasis] semapv:UnspecifiedMatching MONDO:0015254 schistosomiasis skos:exactMatch MEDGEN:48573 semapv:UnspecifiedMatching MONDO:0015254 schistosomiasis skos:exactMatch NCIT:C35000 Schistosomiasis semapv:UnspecifiedMatching MONDO:0015254 schistosomiasis skos:exactMatch Orphanet:1247 Schistosomiasis semapv:UnspecifiedMatching MONDO:0015254 schistosomiasis skos:exactMatch SCTID:10087007 semapv:UnspecifiedMatching MONDO:0015254 schistosomiasis skos:exactMatch UMLS:C0036323 semapv:UnspecifiedMatching MONDO:0015254 schistosomiasis skos:exactMatch icd11.foundation:1194562592 Schistosomiasis semapv:UnspecifiedMatching MONDO:0015254 schistosomiasis skos:exactMatch mesh:D012552 semapv:UnspecifiedMatching MONDO:0015255 obsolete blepharophimosis-radioulnar synostosis syndrome skos:exactMatch Orphanet:1256 OBSOLETE: Blepharophimosis-radioulnar synostosis syndrome semapv:UnspecifiedMatching MONDO:0015255 obsolete blepharophimosis-radioulnar synostosis syndrome skos:exactMatch mesh:C536292 semapv:UnspecifiedMatching MONDO:0015259 brachydactyly-mesomelia-intellectual disability-heart defects syndrome skos:exactMatch MEDGEN:1645467 semapv:UnspecifiedMatching MONDO:0015259 brachydactyly-mesomelia-intellectual disability-heart defects syndrome skos:exactMatch Orphanet:1277 Brachydactyly-mesomelia-intellectual disability-heart defects syndrome semapv:UnspecifiedMatching MONDO:0015259 brachydactyly-mesomelia-intellectual disability-heart defects syndrome skos:exactMatch UMLS:C4707567 semapv:UnspecifiedMatching MONDO:0015260 diphyllobothriasis skos:exactMatch DOID:10075 diphyllobothriasis semapv:UnspecifiedMatching MONDO:0015260 diphyllobothriasis skos:exactMatch EFO:0007238 semapv:UnspecifiedMatching MONDO:0015260 diphyllobothriasis skos:exactMatch ICD10CM:B70.0 Diphyllobothriasis semapv:UnspecifiedMatching MONDO:0015260 diphyllobothriasis skos:exactMatch MEDGEN:3858 semapv:UnspecifiedMatching MONDO:0015260 diphyllobothriasis skos:exactMatch NCIT:C128391 Diphyllobothriasis semapv:UnspecifiedMatching MONDO:0015260 diphyllobothriasis skos:exactMatch Orphanet:128 Diphyllobothriasis semapv:UnspecifiedMatching MONDO:0015260 diphyllobothriasis skos:exactMatch SCTID:187151009 semapv:UnspecifiedMatching MONDO:0015260 diphyllobothriasis skos:exactMatch UMLS:C0012561 semapv:UnspecifiedMatching MONDO:0015260 diphyllobothriasis skos:exactMatch icd11.foundation:1679215344 Diphyllobothriasis semapv:UnspecifiedMatching MONDO:0015260 diphyllobothriasis skos:exactMatch mesh:D004169 semapv:UnspecifiedMatching MONDO:0015261 pseudopelade of Brocq skos:exactMatch MEDGEN:88640 semapv:UnspecifiedMatching MONDO:0015261 pseudopelade of Brocq skos:exactMatch Orphanet:129 Pseudopelade of Brocq semapv:UnspecifiedMatching MONDO:0015261 pseudopelade of Brocq skos:exactMatch SCTID:238731001 semapv:UnspecifiedMatching MONDO:0015261 pseudopelade of Brocq skos:exactMatch UMLS:C0086873 semapv:UnspecifiedMatching MONDO:0015262 brachyolmia skos:exactMatch DOID:0050690 brachyolmia semapv:UnspecifiedMatching MONDO:0015262 brachyolmia skos:exactMatch MEDGEN:96584 semapv:UnspecifiedMatching MONDO:0015262 brachyolmia skos:exactMatch Orphanet:1293 Brachyolmia semapv:UnspecifiedMatching MONDO:0015262 brachyolmia skos:exactMatch SCTID:254088006 semapv:UnspecifiedMatching MONDO:0015262 brachyolmia skos:exactMatch UMLS:C0432228 semapv:UnspecifiedMatching MONDO:0015262 brachyolmia skos:exactMatch icd11.foundation:1255949169 Brachyolmia semapv:UnspecifiedMatching MONDO:0015262 brachyolmia skos:exactMatch mesh:C537098 semapv:UnspecifiedMatching MONDO:0015263 Brugada syndrome skos:exactMatch DOID:0050451 Brugada syndrome semapv:UnspecifiedMatching MONDO:0015263 Brugada syndrome skos:exactMatch MEDGEN:222975 semapv:UnspecifiedMatching MONDO:0015263 Brugada syndrome skos:exactMatch NCIT:C142891 Brugada Syndrome semapv:UnspecifiedMatching MONDO:0015263 Brugada syndrome skos:exactMatch OMIMPS:601144 Brugada syndrome semapv:UnspecifiedMatching MONDO:0015263 Brugada syndrome skos:exactMatch Orphanet:130 Brugada syndrome semapv:UnspecifiedMatching MONDO:0015263 Brugada syndrome skos:exactMatch SCTID:418818005 semapv:UnspecifiedMatching MONDO:0015263 Brugada syndrome skos:exactMatch UMLS:C1142166 semapv:UnspecifiedMatching MONDO:0015263 Brugada syndrome skos:exactMatch icd11.foundation:1250136584 Brugada syndrome semapv:UnspecifiedMatching MONDO:0015263 Brugada syndrome skos:exactMatch mesh:D053840 semapv:UnspecifiedMatching MONDO:0015264 cryptogenic organizing pneumonia skos:exactMatch DOID:0050157 cryptogenic organizing pneumonia semapv:UnspecifiedMatching MONDO:0015264 cryptogenic organizing pneumonia skos:exactMatch EFO:1001300 semapv:UnspecifiedMatching MONDO:0015264 cryptogenic organizing pneumonia skos:exactMatch ICD10CM:J84.116 Cryptogenic organizing pneumonia semapv:UnspecifiedMatching MONDO:0015264 cryptogenic organizing pneumonia skos:exactMatch MEDGEN:116663 semapv:UnspecifiedMatching MONDO:0015264 cryptogenic organizing pneumonia skos:exactMatch NCIT:C62586 Cryptogenic Organizing Pneumonia semapv:UnspecifiedMatching MONDO:0015264 cryptogenic organizing pneumonia skos:exactMatch Orphanet:1302 Cryptogenic organizing pneumonia semapv:UnspecifiedMatching MONDO:0015264 cryptogenic organizing pneumonia skos:exactMatch SCTID:68409003 semapv:UnspecifiedMatching MONDO:0015264 cryptogenic organizing pneumonia skos:exactMatch SCTID:719218000 semapv:UnspecifiedMatching MONDO:0015264 cryptogenic organizing pneumonia skos:exactMatch UMLS:C0242770 semapv:UnspecifiedMatching MONDO:0015264 cryptogenic organizing pneumonia skos:exactMatch icd11.foundation:1937662238 Cryptogenic organizing pneumonitis semapv:UnspecifiedMatching MONDO:0015264 cryptogenic organizing pneumonia skos:exactMatch mesh:D018549 semapv:UnspecifiedMatching MONDO:0015265 bronchiolitis obliterans syndrome skos:exactMatch DOID:2799 bronchiolitis obliterans semapv:UnspecifiedMatching MONDO:0015265 bronchiolitis obliterans syndrome skos:exactMatch EFO:0007183 semapv:UnspecifiedMatching MONDO:0015265 bronchiolitis obliterans syndrome skos:exactMatch MEDGEN:665 semapv:UnspecifiedMatching MONDO:0015265 bronchiolitis obliterans syndrome skos:exactMatch Orphanet:1303 Bronchiolitis obliterans semapv:UnspecifiedMatching MONDO:0015265 bronchiolitis obliterans syndrome skos:exactMatch SCTID:40100001 semapv:UnspecifiedMatching MONDO:0015265 bronchiolitis obliterans syndrome skos:exactMatch UMLS:C0006272 semapv:UnspecifiedMatching MONDO:0015265 bronchiolitis obliterans syndrome skos:exactMatch icd11.foundation:592711730 Chronic obliterative bronchiolitis semapv:UnspecifiedMatching MONDO:0015267 Feingold syndrome skos:exactMatch DOID:0060464 Feingold syndrome semapv:UnspecifiedMatching MONDO:0015267 Feingold syndrome skos:exactMatch MEDGEN:163209 semapv:UnspecifiedMatching MONDO:0015267 Feingold syndrome skos:exactMatch NCIT:C74987 Feingold Syndrome semapv:UnspecifiedMatching MONDO:0015267 Feingold syndrome skos:exactMatch OMIMPS:164280 Feingold syndrome semapv:UnspecifiedMatching MONDO:0015267 Feingold syndrome skos:exactMatch Orphanet:1305 Feingold syndrome semapv:UnspecifiedMatching MONDO:0015267 Feingold syndrome skos:exactMatch UMLS:C0796068 semapv:UnspecifiedMatching MONDO:0015268 medullary sponge kidney skos:exactMatch MEDGEN:5970 semapv:UnspecifiedMatching MONDO:0015268 medullary sponge kidney skos:exactMatch NCIT:C34751 Medullary Sponge Kidney semapv:UnspecifiedMatching MONDO:0015268 medullary sponge kidney skos:exactMatch Orphanet:1309 Medullary sponge kidney semapv:UnspecifiedMatching MONDO:0015268 medullary sponge kidney skos:exactMatch SCTID:236443009 semapv:UnspecifiedMatching MONDO:0015268 medullary sponge kidney skos:exactMatch UMLS:C0022681 semapv:UnspecifiedMatching MONDO:0015268 medullary sponge kidney skos:exactMatch icd11.foundation:1723148250 Medullary sponge kidney semapv:UnspecifiedMatching MONDO:0015268 medullary sponge kidney skos:exactMatch mesh:D007691 semapv:UnspecifiedMatching MONDO:0015269 symmetrical thalamic calcifications skos:exactMatch MEDGEN:930583 semapv:UnspecifiedMatching MONDO:0015269 symmetrical thalamic calcifications skos:exactMatch Orphanet:1314 Symmetrical thalamic calcifications semapv:UnspecifiedMatching MONDO:0015269 symmetrical thalamic calcifications skos:exactMatch SCTID:719164000 semapv:UnspecifiedMatching MONDO:0015269 symmetrical thalamic calcifications skos:exactMatch UMLS:C4304914 semapv:UnspecifiedMatching MONDO:0015270 butyrylcholinesterase deficiency skos:exactMatch MEDGEN:220923 semapv:UnspecifiedMatching MONDO:0015270 butyrylcholinesterase deficiency skos:exactMatch OMIM:617936 butyrylcholinesterase deficiency semapv:UnspecifiedMatching MONDO:0015270 butyrylcholinesterase deficiency skos:exactMatch Orphanet:132 Hereditary butyrylcholinesterase deficiency semapv:UnspecifiedMatching MONDO:0015270 butyrylcholinesterase deficiency skos:exactMatch SCTID:191397007 semapv:UnspecifiedMatching MONDO:0015270 butyrylcholinesterase deficiency skos:exactMatch UMLS:C1283400 semapv:UnspecifiedMatching MONDO:0015270 butyrylcholinesterase deficiency skos:exactMatch icd11.foundation:581237559 Butyrylcholinesterase deficiency semapv:UnspecifiedMatching MONDO:0015270 butyrylcholinesterase deficiency skos:exactMatch mesh:C537417 semapv:UnspecifiedMatching MONDO:0015271 idiopathic camptocormia skos:exactMatch MEDGEN:120496 semapv:UnspecifiedMatching MONDO:0015271 idiopathic camptocormia skos:exactMatch Orphanet:1320 Idiopathic camptocormia semapv:UnspecifiedMatching MONDO:0015271 idiopathic camptocormia skos:exactMatch SCTID:13534001 semapv:UnspecifiedMatching MONDO:0015271 idiopathic camptocormia skos:exactMatch UMLS:C0264162 semapv:UnspecifiedMatching MONDO:0015271 idiopathic camptocormia skos:exactMatch mesh:C537968 semapv:UnspecifiedMatching MONDO:0015272 camptodactyly-taurinuria syndrome skos:exactMatch MEDGEN:1385639 semapv:UnspecifiedMatching MONDO:0015272 camptodactyly-taurinuria syndrome skos:exactMatch Orphanet:1325 Camptodactyly-taurinuria syndrome semapv:UnspecifiedMatching MONDO:0015272 camptodactyly-taurinuria syndrome skos:exactMatch SCTID:733466005 semapv:UnspecifiedMatching MONDO:0015272 camptodactyly-taurinuria syndrome skos:exactMatch UMLS:C4518792 semapv:UnspecifiedMatching MONDO:0015272 camptodactyly-taurinuria syndrome skos:exactMatch mesh:C537972 semapv:UnspecifiedMatching MONDO:0015273 complete atrioventricular canal skos:exactMatch MEDGEN:65132 semapv:UnspecifiedMatching MONDO:0015273 complete atrioventricular canal skos:exactMatch Orphanet:1329 Complete atrioventricular septal defect semapv:UnspecifiedMatching MONDO:0015273 complete atrioventricular canal skos:exactMatch SCTID:360481003 semapv:UnspecifiedMatching MONDO:0015273 complete atrioventricular canal skos:exactMatch UMLS:C0221215 semapv:UnspecifiedMatching MONDO:0015273 complete atrioventricular canal skos:exactMatch mesh:C535974 semapv:UnspecifiedMatching MONDO:0015274 chronic beryllium disease skos:exactMatch DOID:10322 berylliosis semapv:UnspecifiedMatching MONDO:0015274 chronic beryllium disease skos:exactMatch EFO:0007168 semapv:UnspecifiedMatching MONDO:0015274 chronic beryllium disease skos:exactMatch MEDGEN:67440 semapv:UnspecifiedMatching MONDO:0015274 chronic beryllium disease skos:exactMatch Orphanet:133 Chronic beryllium disease semapv:UnspecifiedMatching MONDO:0015274 chronic beryllium disease skos:exactMatch SCTID:18121009 semapv:UnspecifiedMatching MONDO:0015274 chronic beryllium disease skos:exactMatch UMLS:C0221052 semapv:UnspecifiedMatching MONDO:0015274 chronic beryllium disease skos:exactMatch icd11.foundation:212013370 Berylliosis semapv:UnspecifiedMatching MONDO:0015274 chronic beryllium disease skos:exactMatch mesh:D001607 semapv:UnspecifiedMatching MONDO:0015275 partial atrioventricular canal skos:exactMatch MEDGEN:868879 semapv:UnspecifiedMatching MONDO:0015275 partial atrioventricular canal skos:exactMatch Orphanet:1330 Partial atrioventricular septal defect semapv:UnspecifiedMatching MONDO:0015275 partial atrioventricular canal skos:exactMatch SCTID:718216009 semapv:UnspecifiedMatching MONDO:0015275 partial atrioventricular canal skos:exactMatch UMLS:C4023290 semapv:UnspecifiedMatching MONDO:0015275 partial atrioventricular canal skos:exactMatch mesh:C536112 semapv:UnspecifiedMatching MONDO:0015277 medullary thyroid gland carcinoma skos:exactMatch DOID:3973 medullary thyroid carcinoma semapv:UnspecifiedMatching MONDO:0015277 medullary thyroid gland carcinoma skos:exactMatch MEDGEN:66772 semapv:UnspecifiedMatching MONDO:0015277 medullary thyroid gland carcinoma skos:exactMatch NCIT:C3879 Thyroid Gland Medullary Carcinoma semapv:UnspecifiedMatching MONDO:0015277 medullary thyroid gland carcinoma skos:exactMatch Orphanet:1332 Medullary thyroid carcinoma semapv:UnspecifiedMatching MONDO:0015277 medullary thyroid gland carcinoma skos:exactMatch SCTID:255032005 semapv:UnspecifiedMatching MONDO:0015277 medullary thyroid gland carcinoma skos:exactMatch UMLS:C0238462 semapv:UnspecifiedMatching MONDO:0015277 medullary thyroid gland carcinoma skos:exactMatch icd11.foundation:578519098 Medullary carcinoma of thyroid gland semapv:UnspecifiedMatching MONDO:0015278 familial pancreatic carcinoma skos:exactMatch MEDGEN:419700 semapv:UnspecifiedMatching MONDO:0015278 familial pancreatic carcinoma skos:exactMatch NCIT:C43298 Hereditary Pancreatic Carcinoma semapv:UnspecifiedMatching MONDO:0015278 familial pancreatic carcinoma skos:exactMatch OMIM:260350 pancreatic cancer semapv:UnspecifiedMatching MONDO:0015278 familial pancreatic carcinoma skos:exactMatch Orphanet:1333 Familial pancreatic carcinoma semapv:UnspecifiedMatching MONDO:0015278 familial pancreatic carcinoma skos:exactMatch SCTID:715414009 semapv:UnspecifiedMatching MONDO:0015278 familial pancreatic carcinoma skos:exactMatch UMLS:C2931038 semapv:UnspecifiedMatching MONDO:0015278 familial pancreatic carcinoma skos:exactMatch icd11.foundation:1385362916 Familial pancreatic carcinoma semapv:UnspecifiedMatching MONDO:0015278 familial pancreatic carcinoma skos:exactMatch mesh:C535837 semapv:UnspecifiedMatching MONDO:0015279 chronic mucocutaneous candidiasis skos:exactMatch DOID:2058 chronic mucocutaneous candidiasis semapv:UnspecifiedMatching MONDO:0015279 chronic mucocutaneous candidiasis skos:exactMatch MEDGEN:2426 semapv:UnspecifiedMatching MONDO:0015279 chronic mucocutaneous candidiasis skos:exactMatch NCIT:C34444 Chronic Mucocutaneous Candidiasis semapv:UnspecifiedMatching MONDO:0015279 chronic mucocutaneous candidiasis skos:exactMatch OMIMPS:114580 Familial candidiasis semapv:UnspecifiedMatching MONDO:0015279 chronic mucocutaneous candidiasis skos:exactMatch Orphanet:1334 Chronic mucocutaneous candidiasis semapv:UnspecifiedMatching MONDO:0015279 chronic mucocutaneous candidiasis skos:exactMatch SCTID:234568006 semapv:UnspecifiedMatching MONDO:0015279 chronic mucocutaneous candidiasis skos:exactMatch UMLS:C0006845 semapv:UnspecifiedMatching MONDO:0015279 chronic mucocutaneous candidiasis skos:exactMatch icd11.foundation:2120780687 Chronic mucocutaneous candidosis semapv:UnspecifiedMatching MONDO:0015279 chronic mucocutaneous candidiasis skos:exactMatch mesh:D002178 semapv:UnspecifiedMatching MONDO:0015280 cardiofaciocutaneous syndrome skos:exactMatch DOID:0060233 cardiofaciocutaneous syndrome semapv:UnspecifiedMatching MONDO:0015280 cardiofaciocutaneous syndrome skos:exactMatch MEDGEN:266149 semapv:UnspecifiedMatching MONDO:0015280 cardiofaciocutaneous syndrome skos:exactMatch NCIT:C84617 Cardiofaciocutaneous Syndrome semapv:UnspecifiedMatching MONDO:0015280 cardiofaciocutaneous syndrome skos:exactMatch OMIMPS:115150 Cardiofaciocutaneous syndrome semapv:UnspecifiedMatching MONDO:0015280 cardiofaciocutaneous syndrome skos:exactMatch Orphanet:1340 Cardiofaciocutaneous syndrome semapv:UnspecifiedMatching MONDO:0015280 cardiofaciocutaneous syndrome skos:exactMatch SCTID:403770008 semapv:UnspecifiedMatching MONDO:0015280 cardiofaciocutaneous syndrome skos:exactMatch UMLS:C1275081 semapv:UnspecifiedMatching MONDO:0015280 cardiofaciocutaneous syndrome skos:exactMatch mesh:C535579 semapv:UnspecifiedMatching MONDO:0015281 atrial standstill skos:exactMatch MEDGEN:639047 semapv:UnspecifiedMatching MONDO:0015281 atrial standstill skos:exactMatch Orphanet:1344 Isolated atrial standstill semapv:UnspecifiedMatching MONDO:0015281 atrial standstill skos:exactMatch SCTID:450919004 semapv:UnspecifiedMatching MONDO:0015281 atrial standstill skos:exactMatch UMLS:C0541782 semapv:UnspecifiedMatching MONDO:0015281 atrial standstill skos:exactMatch icd11.foundation:483869734 Atrial standstill semapv:UnspecifiedMatching MONDO:0015281 atrial standstill skos:exactMatch mesh:C563984 semapv:UnspecifiedMatching MONDO:0015282 cardiomyopathy-cataract-hip spine disease syndrome skos:exactMatch MEDGEN:419439 semapv:UnspecifiedMatching MONDO:0015282 cardiomyopathy-cataract-hip spine disease syndrome skos:exactMatch Orphanet:1345 Cardiomyopathy-cataract-hip spine disease syndrome semapv:UnspecifiedMatching MONDO:0015282 cardiomyopathy-cataract-hip spine disease syndrome skos:exactMatch SCTID:720609003 semapv:UnspecifiedMatching MONDO:0015282 cardiomyopathy-cataract-hip spine disease syndrome skos:exactMatch UMLS:C2931548 semapv:UnspecifiedMatching MONDO:0015282 cardiomyopathy-cataract-hip spine disease syndrome skos:exactMatch mesh:C537616 semapv:UnspecifiedMatching MONDO:0015283 maternally-inherited cardiomyopathy and hearing loss skos:exactMatch MEDGEN:1376897 semapv:UnspecifiedMatching MONDO:0015283 maternally-inherited cardiomyopathy and hearing loss skos:exactMatch Orphanet:1349 Mitochondrial DNA-related cardiomyopathy and hearing loss semapv:UnspecifiedMatching MONDO:0015283 maternally-inherited cardiomyopathy and hearing loss skos:exactMatch UMLS:C4510409 semapv:UnspecifiedMatching MONDO:0015284 heart-hand syndrome type 2 skos:exactMatch MEDGEN:444030 semapv:UnspecifiedMatching MONDO:0015284 heart-hand syndrome type 2 skos:exactMatch Orphanet:1350 Heart-hand syndrome type 2 semapv:UnspecifiedMatching MONDO:0015284 heart-hand syndrome type 2 skos:exactMatch SCTID:721010003 semapv:UnspecifiedMatching MONDO:0015284 heart-hand syndrome type 2 skos:exactMatch UMLS:C2931323 semapv:UnspecifiedMatching MONDO:0015284 heart-hand syndrome type 2 skos:exactMatch icd11.foundation:2111612055 Heart-hand syndrome type 2 semapv:UnspecifiedMatching MONDO:0015284 heart-hand syndrome type 2 skos:exactMatch mesh:C536784 semapv:UnspecifiedMatching MONDO:0015285 Carney complex skos:exactMatch DOID:0050471 Carney complex semapv:UnspecifiedMatching MONDO:0015285 Carney complex skos:exactMatch MEDGEN:140810 semapv:UnspecifiedMatching MONDO:0015285 Carney complex skos:exactMatch NCIT:C4705 Carney Complex semapv:UnspecifiedMatching MONDO:0015285 Carney complex skos:exactMatch Orphanet:1359 Carney complex semapv:UnspecifiedMatching MONDO:0015285 Carney complex skos:exactMatch SCTID:733491005 semapv:UnspecifiedMatching MONDO:0015285 Carney complex skos:exactMatch UMLS:C0406810 semapv:UnspecifiedMatching MONDO:0015285 Carney complex skos:exactMatch icd11.foundation:1051158630 Carney complex semapv:UnspecifiedMatching MONDO:0015285 Carney complex skos:exactMatch mesh:D056733 semapv:UnspecifiedMatching MONDO:0015286 congenital disorder of glycosylation skos:exactMatch DOID:5212 congenital disorder of glycosylation semapv:UnspecifiedMatching MONDO:0015286 congenital disorder of glycosylation skos:exactMatch MEDGEN:76469 semapv:UnspecifiedMatching MONDO:0015286 congenital disorder of glycosylation skos:exactMatch NCIT:C84615 Carbohydrate-Deficient Glycoprotein Syndrome semapv:UnspecifiedMatching MONDO:0015286 congenital disorder of glycosylation skos:exactMatch Orphanet:137 Congenital disorder of glycosylation semapv:UnspecifiedMatching MONDO:0015286 congenital disorder of glycosylation skos:exactMatch SCTID:238049009 semapv:UnspecifiedMatching MONDO:0015286 congenital disorder of glycosylation skos:exactMatch UMLS:C0282577 semapv:UnspecifiedMatching MONDO:0015286 congenital disorder of glycosylation skos:exactMatch mesh:D018981 semapv:UnspecifiedMatching MONDO:0015288 herpes simplex virus keratitis skos:exactMatch DOID:0080158 herpes simplex virus keratitis semapv:UnspecifiedMatching MONDO:0015288 herpes simplex virus keratitis skos:exactMatch EFO:0007308 semapv:UnspecifiedMatching MONDO:0015288 herpes simplex virus keratitis skos:exactMatch MEDGEN:5534 semapv:UnspecifiedMatching MONDO:0015288 herpes simplex virus keratitis skos:exactMatch NCIT:C34743 Dendritic Keratitis semapv:UnspecifiedMatching MONDO:0015288 herpes simplex virus keratitis skos:exactMatch SCTID:9389005 semapv:UnspecifiedMatching MONDO:0015288 herpes simplex virus keratitis skos:exactMatch UMLS:C0019357 semapv:UnspecifiedMatching MONDO:0015289 infectious epithelial keratitis skos:exactMatch MEDGEN:1660649 semapv:UnspecifiedMatching MONDO:0015289 infectious epithelial keratitis skos:exactMatch Orphanet:137593 Infectious epithelial keratitis semapv:UnspecifiedMatching MONDO:0015289 infectious epithelial keratitis skos:exactMatch UMLS:C4749790 semapv:UnspecifiedMatching MONDO:0015289 infectious epithelial keratitis skos:exactMatch icd11.foundation:2103923676 Infectious epithelial keratitis semapv:UnspecifiedMatching MONDO:0015290 neurotrophic keratopathy skos:exactMatch MEDGEN:87384 semapv:UnspecifiedMatching MONDO:0015290 neurotrophic keratopathy skos:exactMatch Orphanet:137596 Neurotrophic keratopathy semapv:UnspecifiedMatching MONDO:0015290 neurotrophic keratopathy skos:exactMatch SCTID:128080005 semapv:UnspecifiedMatching MONDO:0015290 neurotrophic keratopathy skos:exactMatch UMLS:C0339296 semapv:UnspecifiedMatching MONDO:0015290 neurotrophic keratopathy skos:exactMatch icd11.foundation:1257534118 Neurotrophic keratopathy semapv:UnspecifiedMatching MONDO:0015291 stromal keratitis skos:exactMatch MEDGEN:727306 semapv:UnspecifiedMatching MONDO:0015291 stromal keratitis skos:exactMatch Orphanet:137599 Herpes simplex virus stromal keratitis semapv:UnspecifiedMatching MONDO:0015291 stromal keratitis skos:exactMatch UMLS:C1318020 semapv:UnspecifiedMatching MONDO:0015291 stromal keratitis skos:exactMatch icd11.foundation:1665288755 Stromal keratitis semapv:UnspecifiedMatching MONDO:0015292 endotheliitis skos:exactMatch MEDGEN:602202 semapv:UnspecifiedMatching MONDO:0015292 endotheliitis skos:exactMatch Orphanet:137602 Corneal endotheliitis semapv:UnspecifiedMatching MONDO:0015292 endotheliitis skos:exactMatch UMLS:C0423262 semapv:UnspecifiedMatching MONDO:0015292 endotheliitis skos:exactMatch icd11.foundation:1363910196 Endotheliitis semapv:UnspecifiedMatching MONDO:0015293 segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome skos:exactMatch MEDGEN:1637405 semapv:UnspecifiedMatching MONDO:0015293 segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome skos:exactMatch Orphanet:137608 Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome semapv:UnspecifiedMatching MONDO:0015293 segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome skos:exactMatch SCTID:763867001 semapv:UnspecifiedMatching MONDO:0015293 segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome skos:exactMatch UMLS:C4706610 semapv:UnspecifiedMatching MONDO:0015294 nephrogenic systemic fibrosis skos:exactMatch MEDGEN:854737 semapv:UnspecifiedMatching MONDO:0015294 nephrogenic systemic fibrosis skos:exactMatch NCIT:C84920 Nephrogenic Fibrosing Dermopathy semapv:UnspecifiedMatching MONDO:0015294 nephrogenic systemic fibrosis skos:exactMatch Orphanet:137617 Nephrogenic systemic fibrosis semapv:UnspecifiedMatching MONDO:0015294 nephrogenic systemic fibrosis skos:exactMatch SCTID:424114000 semapv:UnspecifiedMatching MONDO:0015294 nephrogenic systemic fibrosis skos:exactMatch UMLS:C3888044 semapv:UnspecifiedMatching MONDO:0015294 nephrogenic systemic fibrosis skos:exactMatch icd11.foundation:1537082562 Nephrogenic systemic fibrosis semapv:UnspecifiedMatching MONDO:0015294 nephrogenic systemic fibrosis skos:exactMatch mesh:D054989 semapv:UnspecifiedMatching MONDO:0015295 intractable diarrhea-choanal atresia-eye anomalies syndrome skos:exactMatch MEDGEN:929976 semapv:UnspecifiedMatching MONDO:0015295 intractable diarrhea-choanal atresia-eye anomalies syndrome skos:exactMatch Orphanet:137622 Intractable diarrhea-choanal atresia-eye anomalies syndrome semapv:UnspecifiedMatching MONDO:0015295 intractable diarrhea-choanal atresia-eye anomalies syndrome skos:exactMatch UMLS:C4304307 semapv:UnspecifiedMatching MONDO:0015296 cardiac anomalies-heterotaxy syndrome skos:exactMatch MEDGEN:929639 semapv:UnspecifiedMatching MONDO:0015296 cardiac anomalies-heterotaxy syndrome skos:exactMatch Orphanet:137628 Cardiac anomalies-heterotaxy syndrome semapv:UnspecifiedMatching MONDO:0015296 cardiac anomalies-heterotaxy syndrome skos:exactMatch UMLS:C4303970 semapv:UnspecifiedMatching MONDO:0015297 obsolete microcephaly-digital anomalies-intellectual disability syndrome skos:exactMatch Orphanet:137653 Microcephaly-digital anomalies-intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0015298 pellucid marginal degeneration skos:exactMatch MEDGEN:573069 semapv:UnspecifiedMatching MONDO:0015298 pellucid marginal degeneration skos:exactMatch Orphanet:137672 Pellucid marginal degeneration semapv:UnspecifiedMatching MONDO:0015298 pellucid marginal degeneration skos:exactMatch UMLS:C0339288 semapv:UnspecifiedMatching MONDO:0015298 pellucid marginal degeneration skos:exactMatch icd11.foundation:1662005062 Pellucid marginal degeneration semapv:UnspecifiedMatching MONDO:0015299 Asherman syndrome skos:exactMatch ICD10CM:N85.6 Intrauterine synechiae semapv:UnspecifiedMatching MONDO:0015299 Asherman syndrome skos:exactMatch MEDGEN:57629 semapv:UnspecifiedMatching MONDO:0015299 Asherman syndrome skos:exactMatch Orphanet:137686 Asherman syndrome semapv:UnspecifiedMatching MONDO:0015299 Asherman syndrome skos:exactMatch SCTID:48236007 semapv:UnspecifiedMatching MONDO:0015299 Asherman syndrome skos:exactMatch UMLS:C0156372 semapv:UnspecifiedMatching MONDO:0015299 Asherman syndrome skos:exactMatch icd11.foundation:2022431339 Intrauterine synechiae semapv:UnspecifiedMatching MONDO:0015300 cataract - microcornea syndrome skos:exactMatch Orphanet:1377 Cataract-microcornea syndrome semapv:UnspecifiedMatching MONDO:0015300 cataract - microcornea syndrome skos:exactMatch mesh:C538287 semapv:UnspecifiedMatching MONDO:0015301 primary cutaneous amyloidosis skos:exactMatch DOID:0050639 primary cutaneous amyloidosis semapv:UnspecifiedMatching MONDO:0015301 primary cutaneous amyloidosis skos:exactMatch MEDGEN:120635 semapv:UnspecifiedMatching MONDO:0015301 primary cutaneous amyloidosis skos:exactMatch NCIT:C199391 Primary Cutaneous Amyloidosis semapv:UnspecifiedMatching MONDO:0015301 primary cutaneous amyloidosis skos:exactMatch Orphanet:137807 Primary cutaneous amyloidosis semapv:UnspecifiedMatching MONDO:0015301 primary cutaneous amyloidosis skos:exactMatch SCTID:282834007 semapv:UnspecifiedMatching MONDO:0015301 primary cutaneous amyloidosis skos:exactMatch UMLS:C0268397 semapv:UnspecifiedMatching MONDO:0015301 primary cutaneous amyloidosis skos:exactMatch mesh:C562642 semapv:UnspecifiedMatching MONDO:0015302 nodular cutaneous amyloidosis skos:exactMatch EFO:1001882 semapv:UnspecifiedMatching MONDO:0015302 nodular cutaneous amyloidosis skos:exactMatch MEDGEN:900275 semapv:UnspecifiedMatching MONDO:0015302 nodular cutaneous amyloidosis skos:exactMatch Orphanet:137810 Nodular cutaneous amyloidosis semapv:UnspecifiedMatching MONDO:0015302 nodular cutaneous amyloidosis skos:exactMatch SCTID:716704007 semapv:UnspecifiedMatching MONDO:0015302 nodular cutaneous amyloidosis skos:exactMatch UMLS:C4274331 semapv:UnspecifiedMatching MONDO:0015303 macular amyloidosis skos:exactMatch MEDGEN:1372504 semapv:UnspecifiedMatching MONDO:0015303 macular amyloidosis skos:exactMatch Orphanet:137814 Macular amyloidosis semapv:UnspecifiedMatching MONDO:0015303 macular amyloidosis skos:exactMatch UMLS:C0544839 semapv:UnspecifiedMatching MONDO:0015303 macular amyloidosis skos:exactMatch icd11.foundation:1192013809 Macular amyloidosis semapv:UnspecifiedMatching MONDO:0015304 arachnoiditis skos:exactMatch DOID:12156 arachnoiditis semapv:UnspecifiedMatching MONDO:0015304 arachnoiditis skos:exactMatch MEDGEN:8175 semapv:UnspecifiedMatching MONDO:0015304 arachnoiditis skos:exactMatch NCIT:C37913 Arachnoiditis semapv:UnspecifiedMatching MONDO:0015304 arachnoiditis skos:exactMatch Orphanet:137817 Arachnoiditis semapv:UnspecifiedMatching MONDO:0015304 arachnoiditis skos:exactMatch SCTID:13980006 semapv:UnspecifiedMatching MONDO:0015304 arachnoiditis skos:exactMatch UMLS:C0003708 semapv:UnspecifiedMatching MONDO:0015304 arachnoiditis skos:exactMatch icd11.foundation:414817254 Arachnoiditis semapv:UnspecifiedMatching MONDO:0015304 arachnoiditis skos:exactMatch mesh:D001100 semapv:UnspecifiedMatching MONDO:0015305 obsolete rare endometriosis skos:exactMatch Orphanet:137820 Extrapelvic endometriosis semapv:UnspecifiedMatching MONDO:0015305 obsolete rare endometriosis skos:exactMatch SCTID:237117005 semapv:UnspecifiedMatching MONDO:0015306 Lemierre syndrome skos:exactMatch DOID:11337 Lemierre's syndrome semapv:UnspecifiedMatching MONDO:0015306 Lemierre syndrome skos:exactMatch MEDGEN:6541 semapv:UnspecifiedMatching MONDO:0015306 Lemierre syndrome skos:exactMatch Orphanet:137839 Lemierre syndrome semapv:UnspecifiedMatching MONDO:0015306 Lemierre syndrome skos:exactMatch SCTID:52542005 semapv:UnspecifiedMatching MONDO:0015306 Lemierre syndrome skos:exactMatch UMLS:C0027537 semapv:UnspecifiedMatching MONDO:0015306 Lemierre syndrome skos:exactMatch mesh:D057831 semapv:UnspecifiedMatching MONDO:0015307 Madras motor neuron disease skos:exactMatch MEDGEN:581442 semapv:UnspecifiedMatching MONDO:0015307 Madras motor neuron disease skos:exactMatch Orphanet:137867 Madras motor neuron disease semapv:UnspecifiedMatching MONDO:0015307 Madras motor neuron disease skos:exactMatch UMLS:C0393551 semapv:UnspecifiedMatching MONDO:0015307 Madras motor neuron disease skos:exactMatch icd11.foundation:1764644031 Madras type motor neuron disease semapv:UnspecifiedMatching MONDO:0015308 laminopathy type Decaudain-Vigouroux skos:exactMatch MEDGEN:1375333 semapv:UnspecifiedMatching MONDO:0015308 laminopathy type Decaudain-Vigouroux skos:exactMatch SCTID:724205009 semapv:UnspecifiedMatching MONDO:0015308 laminopathy type Decaudain-Vigouroux skos:exactMatch UMLS:C4518324 semapv:UnspecifiedMatching MONDO:0015308 laminopathy type Decaudain-Vigouroux skos:exactMatch icd11.foundation:815630778 Laminopathy type Decaudain-Vigouroux semapv:UnspecifiedMatching MONDO:0015310 obsolete syndromic optic nerve hypoplasia skos:exactMatch Orphanet:137905 Syndromic optic nerve hypoplasia semapv:UnspecifiedMatching MONDO:0015312 choanal atresia, unilateral skos:exactMatch MEDGEN:1843076 semapv:UnspecifiedMatching MONDO:0015312 choanal atresia, unilateral skos:exactMatch Orphanet:137917 Choanal atresia, unilateral semapv:UnspecifiedMatching MONDO:0015312 choanal atresia, unilateral skos:exactMatch UMLS:C5680630 semapv:UnspecifiedMatching MONDO:0015312 choanal atresia, unilateral skos:exactMatch icd11.foundation:1247369366 Choanal atresia, unilateral semapv:UnspecifiedMatching MONDO:0015313 choanal atresia, bilateral skos:exactMatch MEDGEN:870857 semapv:UnspecifiedMatching MONDO:0015313 choanal atresia, bilateral skos:exactMatch Orphanet:137920 Choanal atresia, bilateral semapv:UnspecifiedMatching MONDO:0015313 choanal atresia, bilateral skos:exactMatch UMLS:C4025317 semapv:UnspecifiedMatching MONDO:0015313 choanal atresia, bilateral skos:exactMatch icd11.foundation:1138913171 Choanal atresia, bilateral semapv:UnspecifiedMatching MONDO:0015314 primary laryngeal lymphangioma skos:exactMatch MEDGEN:1634144 semapv:UnspecifiedMatching MONDO:0015314 primary laryngeal lymphangioma skos:exactMatch Orphanet:137926 Primary laryngeal lymphangioma semapv:UnspecifiedMatching MONDO:0015314 primary laryngeal lymphangioma skos:exactMatch SCTID:763617006 semapv:UnspecifiedMatching MONDO:0015314 primary laryngeal lymphangioma skos:exactMatch UMLS:C4706521 semapv:UnspecifiedMatching MONDO:0015315 neonatal brainstem dysfunction skos:exactMatch MEDGEN:1665998 semapv:UnspecifiedMatching MONDO:0015315 neonatal brainstem dysfunction skos:exactMatch Orphanet:137929 Neonatal brainstem dysfunction semapv:UnspecifiedMatching MONDO:0015315 neonatal brainstem dysfunction skos:exactMatch UMLS:C4749374 semapv:UnspecifiedMatching MONDO:0015316 congenital laryngeal palsy skos:exactMatch MEDGEN:96003 semapv:UnspecifiedMatching MONDO:0015316 congenital laryngeal palsy skos:exactMatch Orphanet:137932 Congenital laryngeal palsy semapv:UnspecifiedMatching MONDO:0015316 congenital laryngeal palsy skos:exactMatch UMLS:C0396058 semapv:UnspecifiedMatching MONDO:0015316 congenital laryngeal palsy skos:exactMatch icd11.foundation:1508780420 Congenital laryngeal palsy semapv:UnspecifiedMatching MONDO:0015317 laryngotracheal angioma skos:exactMatch MEDGEN:825419 semapv:UnspecifiedMatching MONDO:0015317 laryngotracheal angioma skos:exactMatch NCIT:C99086 Airway Infantile Hemangioma semapv:UnspecifiedMatching MONDO:0015317 laryngotracheal angioma skos:exactMatch Orphanet:137935 Airway infantile hemangioma semapv:UnspecifiedMatching MONDO:0015317 laryngotracheal angioma skos:exactMatch SCTID:703199001 semapv:UnspecifiedMatching MONDO:0015317 laryngotracheal angioma skos:exactMatch UMLS:C3839574 semapv:UnspecifiedMatching MONDO:0015319 obsolete rare disease with Pierre Robin syndrome skos:exactMatch Orphanet:138044 Rare disease with Pierre Robin syndrome semapv:UnspecifiedMatching MONDO:0015323 obsolete teratogenic Pierre Robin syndrome skos:exactMatch Orphanet:138059 Teratogenic Pierre Robin syndrome semapv:UnspecifiedMatching MONDO:0015324 cataract-intellectual disability-anal atresia-urinary defects syndrome skos:exactMatch MEDGEN:419068 semapv:UnspecifiedMatching MONDO:0015324 cataract-intellectual disability-anal atresia-urinary defects syndrome skos:exactMatch Orphanet:1381 Cataract-intellectual disability-anal atresia-urinary defects syndrome semapv:UnspecifiedMatching MONDO:0015324 cataract-intellectual disability-anal atresia-urinary defects syndrome skos:exactMatch SCTID:715989002 semapv:UnspecifiedMatching MONDO:0015324 cataract-intellectual disability-anal atresia-urinary defects syndrome skos:exactMatch UMLS:C2931391 semapv:UnspecifiedMatching MONDO:0015324 cataract-intellectual disability-anal atresia-urinary defects syndrome skos:exactMatch mesh:C537009 semapv:UnspecifiedMatching MONDO:0015325 cataract-deafness-hypogonadism syndrome skos:exactMatch MEDGEN:419760 semapv:UnspecifiedMatching MONDO:0015325 cataract-deafness-hypogonadism syndrome skos:exactMatch Orphanet:1383 Cataract-deafness-hypogonadism syndrome semapv:UnspecifiedMatching MONDO:0015325 cataract-deafness-hypogonadism syndrome skos:exactMatch SCTID:722378009 semapv:UnspecifiedMatching MONDO:0015325 cataract-deafness-hypogonadism syndrome skos:exactMatch UMLS:C2931269 semapv:UnspecifiedMatching MONDO:0015325 cataract-deafness-hypogonadism syndrome skos:exactMatch mesh:C536626 semapv:UnspecifiedMatching MONDO:0015326 night blindness-skeletal anomalies-dysmorphism syndrome skos:exactMatch MEDGEN:1814437 semapv:UnspecifiedMatching MONDO:0015326 night blindness-skeletal anomalies-dysmorphism syndrome skos:exactMatch Orphanet:1390 Night blindness-skeletal anomalies-dysmorphism syndrome semapv:UnspecifiedMatching MONDO:0015326 night blindness-skeletal anomalies-dysmorphism syndrome skos:exactMatch UMLS:C5679607 semapv:UnspecifiedMatching MONDO:0015327 developmental anomaly of metabolic origin skos:exactMatch MEDGEN:1826093 semapv:UnspecifiedMatching MONDO:0015327 developmental anomaly of metabolic origin skos:exactMatch Orphanet:139009 Developmental anomaly of metabolic origin semapv:UnspecifiedMatching MONDO:0015327 developmental anomaly of metabolic origin skos:exactMatch UMLS:C5680623 semapv:UnspecifiedMatching MONDO:0015328 obsolete rare bone development disorder skos:exactMatch NCIT:C34432 Bone Development Disorder semapv:UnspecifiedMatching MONDO:0015328 obsolete rare bone development disorder skos:exactMatch Orphanet:139012 Rare bone development disorder semapv:UnspecifiedMatching MONDO:0015329 obsolete malformation syndrome with short stature skos:exactMatch Orphanet:139021 Malformation syndrome with short stature semapv:UnspecifiedMatching MONDO:0015329 obsolete malformation syndrome with short stature skos:exactMatch SCTID:205808005 semapv:UnspecifiedMatching MONDO:0015330 obsolete overgrowth/obesity syndrome skos:exactMatch Orphanet:139024 Overgrowth/obesity syndrome semapv:UnspecifiedMatching MONDO:0015331 obsolete malformation syndrome with skin/mucosae involvement skos:exactMatch Orphanet:139027 Rare developmental defect with skin/mucosae involvement semapv:UnspecifiedMatching MONDO:0015332 obsolete rare developmental defect with connective tissue involvement skos:exactMatch Orphanet:139030 Rare developmental defect with connective tissue involvement semapv:UnspecifiedMatching MONDO:0015333 progeroid syndrome skos:exactMatch DOID:0081332 progeroid syndrome semapv:UnspecifiedMatching MONDO:0015333 progeroid syndrome skos:exactMatch MEDGEN:1864204 semapv:UnspecifiedMatching MONDO:0015333 progeroid syndrome skos:exactMatch OMIMPS:176670 Progeria or progeroid syndrome semapv:UnspecifiedMatching MONDO:0015333 progeroid syndrome skos:exactMatch Orphanet:139033 Progeroid syndrome semapv:UnspecifiedMatching MONDO:0015333 progeroid syndrome skos:exactMatch UMLS:C5848146 semapv:UnspecifiedMatching MONDO:0015333 progeroid syndrome skos:exactMatch icd11.foundation:926151882 Progeria semapv:UnspecifiedMatching MONDO:0015333 progeroid syndrome skos:exactMatch mesh:D011371 semapv:UnspecifiedMatching MONDO:0015334 obsolete branchial arch or oral-acral syndrome skos:exactMatch Orphanet:139036 Branchial arch or oral-acral syndrome semapv:UnspecifiedMatching MONDO:0015335 obsolete Mendelian syndromes with cleft lip/palate skos:exactMatch Orphanet:139039 Orofacial clefting syndrome semapv:UnspecifiedMatching MONDO:0015336 obsolete malformation syndrome with odontal and/or periodontal component skos:exactMatch Orphanet:139042 Malformation syndrome with odontal and/or periodontal component semapv:UnspecifiedMatching MONDO:0015337 isolated craniosynostosis skos:exactMatch MEDGEN:1863457 semapv:UnspecifiedMatching MONDO:0015337 isolated craniosynostosis skos:exactMatch Orphanet:139390 Non-syndromic craniosynostosis semapv:UnspecifiedMatching MONDO:0015337 isolated craniosynostosis skos:exactMatch UMLS:C5848302 semapv:UnspecifiedMatching MONDO:0015338 syndromic craniosynostosis skos:exactMatch MEDGEN:1842203 semapv:UnspecifiedMatching MONDO:0015338 syndromic craniosynostosis skos:exactMatch Orphanet:139393 Syndromic craniosynostosis semapv:UnspecifiedMatching MONDO:0015338 syndromic craniosynostosis skos:exactMatch UMLS:C5680624 semapv:UnspecifiedMatching MONDO:0015339 adrenomyeloneuropathy skos:exactMatch ICD10CM:E71.522 Adrenomyeloneuropathy semapv:UnspecifiedMatching MONDO:0015339 adrenomyeloneuropathy skos:exactMatch MEDGEN:315918 semapv:UnspecifiedMatching MONDO:0015339 adrenomyeloneuropathy skos:exactMatch Orphanet:139399 Adrenomyeloneuropathy semapv:UnspecifiedMatching MONDO:0015339 adrenomyeloneuropathy skos:exactMatch SCTID:65389002 semapv:UnspecifiedMatching MONDO:0015339 adrenomyeloneuropathy skos:exactMatch UMLS:C1527231 semapv:UnspecifiedMatching MONDO:0015339 adrenomyeloneuropathy skos:exactMatch icd11.foundation:1214673956 Adrenomyeloneuropathy semapv:UnspecifiedMatching MONDO:0015340 drug rash with eosinophilia and systemic symptoms skos:exactMatch ICD10CM:D72.12 Drug rash with eosinophilia and systemic symptoms syndrome semapv:UnspecifiedMatching MONDO:0015340 drug rash with eosinophilia and systemic symptoms skos:exactMatch MEDGEN:762193 semapv:UnspecifiedMatching MONDO:0015340 drug rash with eosinophilia and systemic symptoms skos:exactMatch NCIT:C112208 Drug Hypersensitivity Syndrome semapv:UnspecifiedMatching MONDO:0015340 drug rash with eosinophilia and systemic symptoms skos:exactMatch Orphanet:139402 Drug reaction with eosinophilia and systemic symptoms semapv:UnspecifiedMatching MONDO:0015340 drug rash with eosinophilia and systemic symptoms skos:exactMatch SCTID:702809001 semapv:UnspecifiedMatching MONDO:0015340 drug rash with eosinophilia and systemic symptoms skos:exactMatch UMLS:C3541994 semapv:UnspecifiedMatching MONDO:0015340 drug rash with eosinophilia and systemic symptoms skos:exactMatch icd11.foundation:516577496 DRESS syndrome semapv:UnspecifiedMatching MONDO:0015340 drug rash with eosinophilia and systemic symptoms skos:exactMatch mesh:D063926 semapv:UnspecifiedMatching MONDO:0015341 congenital panfollicular nevus skos:exactMatch MEDGEN:1381094 semapv:UnspecifiedMatching MONDO:0015341 congenital panfollicular nevus skos:exactMatch Orphanet:139414 Congenital panfollicular nevus semapv:UnspecifiedMatching MONDO:0015341 congenital panfollicular nevus skos:exactMatch UMLS:C4476799 semapv:UnspecifiedMatching MONDO:0015342 acute transverse myelitis skos:exactMatch MEDGEN:82847 semapv:UnspecifiedMatching MONDO:0015342 acute transverse myelitis skos:exactMatch NCIT:C128378 Acute Transverse Myelitis semapv:UnspecifiedMatching MONDO:0015342 acute transverse myelitis skos:exactMatch Orphanet:139417 Acute transverse myelitis semapv:UnspecifiedMatching MONDO:0015342 acute transverse myelitis skos:exactMatch SCTID:47000000 semapv:UnspecifiedMatching MONDO:0015342 acute transverse myelitis skos:exactMatch UMLS:C0270627 semapv:UnspecifiedMatching MONDO:0015342 acute transverse myelitis skos:exactMatch mesh:D009188 semapv:UnspecifiedMatching MONDO:0015343 obsolete secondary acute transverse myelitis skos:exactMatch Orphanet:139420 OBSOLETE: Secondary acute transverse myelitis semapv:UnspecifiedMatching MONDO:0015344 idiopathic acute transverse myelitis skos:exactMatch Orphanet:139423 Idiopathic acute transverse myelitis semapv:UnspecifiedMatching MONDO:0015345 perioral myoclonia with absences skos:exactMatch MEDGEN:1637328 semapv:UnspecifiedMatching MONDO:0015345 perioral myoclonia with absences skos:exactMatch Orphanet:139426 Perioral myoclonia with absences semapv:UnspecifiedMatching MONDO:0015345 perioral myoclonia with absences skos:exactMatch SCTID:766815007 semapv:UnspecifiedMatching MONDO:0015345 perioral myoclonia with absences skos:exactMatch UMLS:C4707846 semapv:UnspecifiedMatching MONDO:0015345 perioral myoclonia with absences skos:exactMatch icd11.foundation:1067045592 Perioral myoclonia with absences semapv:UnspecifiedMatching MONDO:0015346 epilepsy with eyelid myoclonia skos:exactMatch MEDGEN:901966 semapv:UnspecifiedMatching MONDO:0015346 epilepsy with eyelid myoclonia skos:exactMatch Orphanet:139431 Epilepsy with eyelid myoclonia semapv:UnspecifiedMatching MONDO:0015346 epilepsy with eyelid myoclonia skos:exactMatch SCTID:716278005 semapv:UnspecifiedMatching MONDO:0015346 epilepsy with eyelid myoclonia skos:exactMatch UMLS:C4274731 semapv:UnspecifiedMatching MONDO:0015346 epilepsy with eyelid myoclonia skos:exactMatch icd11.foundation:262814036 Jeavons syndrome semapv:UnspecifiedMatching MONDO:0015347 multicentric reticulohistiocytosis skos:exactMatch DOID:11824 multicentric reticulohistiocytosis semapv:UnspecifiedMatching MONDO:0015347 multicentric reticulohistiocytosis skos:exactMatch ICD10CM:E78.81 Lipoid dermatoarthritis semapv:UnspecifiedMatching MONDO:0015347 multicentric reticulohistiocytosis skos:exactMatch MEDGEN:86315 semapv:UnspecifiedMatching MONDO:0015347 multicentric reticulohistiocytosis skos:exactMatch NCIT:C27896 Multicentric Reticulohistiocytosis semapv:UnspecifiedMatching MONDO:0015347 multicentric reticulohistiocytosis skos:exactMatch Orphanet:139436 Multicentric reticulohistiocytosis semapv:UnspecifiedMatching MONDO:0015347 multicentric reticulohistiocytosis skos:exactMatch SCTID:84241008 semapv:UnspecifiedMatching MONDO:0015347 multicentric reticulohistiocytosis skos:exactMatch UMLS:C0311284 semapv:UnspecifiedMatching MONDO:0015347 multicentric reticulohistiocytosis skos:exactMatch icd11.foundation:977116795 Multicentric reticulohistiocytosis semapv:UnspecifiedMatching MONDO:0015348 leukoencephalopathy with bilateral anterior temporal lobe cysts skos:exactMatch MEDGEN:930413 semapv:UnspecifiedMatching MONDO:0015348 leukoencephalopathy with bilateral anterior temporal lobe cysts skos:exactMatch Orphanet:139444 Leukoencephalopathy with bilateral anterior temporal lobe cysts semapv:UnspecifiedMatching MONDO:0015348 leukoencephalopathy with bilateral anterior temporal lobe cysts skos:exactMatch UMLS:C4304744 semapv:UnspecifiedMatching MONDO:0015348 leukoencephalopathy with bilateral anterior temporal lobe cysts skos:exactMatch icd11.foundation:138159250 Leukoencephalopathy with bilateral anterior temporal lobe cysts semapv:UnspecifiedMatching MONDO:0015349 progressive cavitating leukoencephalopathy skos:exactMatch MEDGEN:930509 semapv:UnspecifiedMatching MONDO:0015349 progressive cavitating leukoencephalopathy skos:exactMatch Orphanet:139447 Progressive cavitating leukoencephalopathy semapv:UnspecifiedMatching MONDO:0015349 progressive cavitating leukoencephalopathy skos:exactMatch SCTID:719267003 semapv:UnspecifiedMatching MONDO:0015349 progressive cavitating leukoencephalopathy skos:exactMatch UMLS:C4304840 semapv:UnspecifiedMatching MONDO:0015349 progressive cavitating leukoencephalopathy skos:exactMatch icd11.foundation:340540374 Progressive cavitating leukoencephalopathy semapv:UnspecifiedMatching MONDO:0015350 17q11.2 microduplication syndrome skos:exactMatch MEDGEN:501218 semapv:UnspecifiedMatching MONDO:0015350 17q11.2 microduplication syndrome skos:exactMatch OMIM:618874 chromosome 17q11.2 duplication syndrome, 1.4-mb semapv:UnspecifiedMatching MONDO:0015350 17q11.2 microduplication syndrome skos:exactMatch Orphanet:139474 17q11.2 microduplication syndrome semapv:UnspecifiedMatching MONDO:0015350 17q11.2 microduplication syndrome skos:exactMatch SCTID:719583002 semapv:UnspecifiedMatching MONDO:0015350 17q11.2 microduplication syndrome skos:exactMatch UMLS:C3495679 semapv:UnspecifiedMatching MONDO:0015351 neuropathy with hearing impairment skos:exactMatch MEDGEN:1375726 semapv:UnspecifiedMatching MONDO:0015351 neuropathy with hearing impairment skos:exactMatch Orphanet:139512 Neuropathy with hearing impairment semapv:UnspecifiedMatching MONDO:0015351 neuropathy with hearing impairment skos:exactMatch SCTID:723497003 semapv:UnspecifiedMatching MONDO:0015351 neuropathy with hearing impairment skos:exactMatch UMLS:C4509933 semapv:UnspecifiedMatching MONDO:0015351 neuropathy with hearing impairment skos:exactMatch icd11.foundation:129297527 Neuropathy with hearing impairment semapv:UnspecifiedMatching MONDO:0015352 distal hereditary motor neuropathy type 2 skos:exactMatch DOID:0111206 autosomal dominant distal hereditary motor neuronopathy 2 semapv:UnspecifiedMatching MONDO:0015352 distal hereditary motor neuropathy type 2 skos:exactMatch MEDGEN:777992 semapv:UnspecifiedMatching MONDO:0015352 distal hereditary motor neuropathy type 2 skos:exactMatch Orphanet:139525 Distal hereditary motor neuropathy type 2 semapv:UnspecifiedMatching MONDO:0015352 distal hereditary motor neuropathy type 2 skos:exactMatch UMLS:C3711384 semapv:UnspecifiedMatching MONDO:0015352 distal hereditary motor neuropathy type 2 skos:exactMatch icd11.foundation:152961055 Distal hereditary motor neuropathy type 2 semapv:UnspecifiedMatching MONDO:0015352 distal hereditary motor neuropathy type 2 skos:exactMatch mesh:C580044 semapv:UnspecifiedMatching MONDO:0015353 neuronopathy, distal hereditary motor, type 5A skos:exactMatch OMIM:600794 neuronopathy, distal hereditary motor, autosomal dominant 5 semapv:UnspecifiedMatching MONDO:0015354 hereditary sensory and autonomic neuropathy with deafness and global delay skos:exactMatch MEDGEN:929235 semapv:UnspecifiedMatching MONDO:0015354 hereditary sensory and autonomic neuropathy with deafness and global delay skos:exactMatch Orphanet:139573 Hereditary sensory and autonomic neuropathy with deafness and global delay semapv:UnspecifiedMatching MONDO:0015354 hereditary sensory and autonomic neuropathy with deafness and global delay skos:exactMatch SCTID:717826009 semapv:UnspecifiedMatching MONDO:0015354 hereditary sensory and autonomic neuropathy with deafness and global delay skos:exactMatch UMLS:C4303566 semapv:UnspecifiedMatching MONDO:0015355 distal hereditary motor neuropathy type 7 skos:exactMatch DOID:0111199 autosomal dominant distal hereditary motor neuronopathy 7 semapv:UnspecifiedMatching MONDO:0015355 distal hereditary motor neuropathy type 7 skos:exactMatch MEDGEN:1662655 semapv:UnspecifiedMatching MONDO:0015355 distal hereditary motor neuropathy type 7 skos:exactMatch Orphanet:139589 Distal hereditary motor neuropathy type 7 semapv:UnspecifiedMatching MONDO:0015355 distal hereditary motor neuropathy type 7 skos:exactMatch UMLS:C4749653 semapv:UnspecifiedMatching MONDO:0015355 distal hereditary motor neuropathy type 7 skos:exactMatch icd11.foundation:80361835 Distal hereditary motor neuropathy type 7 semapv:UnspecifiedMatching MONDO:0015356 hereditary neoplastic syndrome skos:exactMatch MEDGEN:14326 semapv:UnspecifiedMatching MONDO:0015356 hereditary neoplastic syndrome skos:exactMatch NCIT:C3266 Hereditary Neoplastic Syndrome semapv:UnspecifiedMatching MONDO:0015356 hereditary neoplastic syndrome skos:exactMatch Orphanet:140162 Inherited cancer-predisposing syndrome semapv:UnspecifiedMatching MONDO:0015356 hereditary neoplastic syndrome skos:exactMatch SCTID:699346009 semapv:UnspecifiedMatching MONDO:0015356 hereditary neoplastic syndrome skos:exactMatch UMLS:C0027672 semapv:UnspecifiedMatching MONDO:0015356 hereditary neoplastic syndrome skos:exactMatch mesh:D009386 semapv:UnspecifiedMatching MONDO:0015357 secondary hypoparathyroidism due to impaired parathormon secretion skos:exactMatch MEDGEN:931097 semapv:UnspecifiedMatching MONDO:0015357 secondary hypoparathyroidism due to impaired parathormon secretion skos:exactMatch Orphanet:140286 Secondary hypoparathyroidism due to impaired parathormon secretion semapv:UnspecifiedMatching MONDO:0015357 secondary hypoparathyroidism due to impaired parathormon secretion skos:exactMatch UMLS:C4305428 semapv:UnspecifiedMatching MONDO:0015357 secondary hypoparathyroidism due to impaired parathormon secretion skos:exactMatch icd11.foundation:1229357339 Secondary hypoparathyroidism semapv:UnspecifiedMatching MONDO:0015358 hereditary motor and sensory neuropathy skos:exactMatch ICD10CM:G60.0 Hereditary motor and sensory neuropathy semapv:UnspecifiedMatching MONDO:0015358 hereditary motor and sensory neuropathy skos:exactMatch MEDGEN:45066 semapv:UnspecifiedMatching MONDO:0015358 hereditary motor and sensory neuropathy skos:exactMatch SCTID:398100001 semapv:UnspecifiedMatching MONDO:0015358 hereditary motor and sensory neuropathy skos:exactMatch UMLS:C0027888 semapv:UnspecifiedMatching MONDO:0015358 hereditary motor and sensory neuropathy skos:exactMatch icd11.foundation:1538134578 Hereditary motor and sensory neuropathy semapv:UnspecifiedMatching MONDO:0015358 hereditary motor and sensory neuropathy skos:exactMatch mesh:D015417 semapv:UnspecifiedMatching MONDO:0015359 obsolete autosomal dominant hereditary demyelinating motor and sensory neuropathy skos:exactMatch Orphanet:140453 Autosomal dominant hereditary demyelinating motor and sensory neuropathy semapv:UnspecifiedMatching MONDO:0015360 obsolete autosomal dominant hereditary axonal motor and sensory neuropathy skos:exactMatch Orphanet:140456 Autosomal dominant hereditary axonal motor and sensory neuropathy semapv:UnspecifiedMatching MONDO:0015361 obsolete autosomal recessive hereditary demyelinating motor and sensory neuropathy skos:exactMatch Orphanet:140459 Autosomal recessive hereditary demyelinating motor and sensory neuropathy semapv:UnspecifiedMatching MONDO:0015362 neuronopathy, distal hereditary motor, autosomal dominant skos:exactMatch DOID:0111198 autosomal dominant distal hereditary motor neuronopathy semapv:UnspecifiedMatching MONDO:0015362 neuronopathy, distal hereditary motor, autosomal dominant skos:exactMatch MEDGEN:1787720 semapv:UnspecifiedMatching MONDO:0015362 neuronopathy, distal hereditary motor, autosomal dominant skos:exactMatch OMIMPS:182960 Neuronopathy, distal hereditary motor, autosomal dominant semapv:UnspecifiedMatching MONDO:0015362 neuronopathy, distal hereditary motor, autosomal dominant skos:exactMatch Orphanet:140465 Autosomal dominant distal hereditary motor neuropathy semapv:UnspecifiedMatching MONDO:0015362 neuronopathy, distal hereditary motor, autosomal dominant skos:exactMatch UMLS:C5548212 semapv:UnspecifiedMatching MONDO:0015363 neuronopathy, distal hereditary motor, autosomal recessive skos:exactMatch DOID:0111197 autosomal recessive distal hereditary motor neuronopathy semapv:UnspecifiedMatching MONDO:0015363 neuronopathy, distal hereditary motor, autosomal recessive skos:exactMatch MEDGEN:1779821 semapv:UnspecifiedMatching MONDO:0015363 neuronopathy, distal hereditary motor, autosomal recessive skos:exactMatch OMIMPS:604320 Neuronopathy, distal hereditary motor, autosomal recessive semapv:UnspecifiedMatching MONDO:0015363 neuronopathy, distal hereditary motor, autosomal recessive skos:exactMatch Orphanet:140468 Autosomal recessive distal hereditary motor neuropathy semapv:UnspecifiedMatching MONDO:0015363 neuronopathy, distal hereditary motor, autosomal recessive skos:exactMatch UMLS:C5548369 semapv:UnspecifiedMatching MONDO:0015364 hereditary sensory and autonomic neuropathy skos:exactMatch DOID:0050548 hereditary sensory neuropathy semapv:UnspecifiedMatching MONDO:0015364 hereditary sensory and autonomic neuropathy skos:exactMatch MEDGEN:14355 semapv:UnspecifiedMatching MONDO:0015364 hereditary sensory and autonomic neuropathy skos:exactMatch NCIT:C125386 Indifference to Pain, Congenital, Autosomal Recessive semapv:UnspecifiedMatching MONDO:0015364 hereditary sensory and autonomic neuropathy skos:exactMatch OMIMPS:162400 Hereditary sensory and autonomic neuropathy semapv:UnspecifiedMatching MONDO:0015364 hereditary sensory and autonomic neuropathy skos:exactMatch Orphanet:140471 Hereditary sensory and autonomic neuropathy semapv:UnspecifiedMatching MONDO:0015364 hereditary sensory and autonomic neuropathy skos:exactMatch SCTID:11442006 semapv:UnspecifiedMatching MONDO:0015364 hereditary sensory and autonomic neuropathy skos:exactMatch UMLS:C0027889 semapv:UnspecifiedMatching MONDO:0015364 hereditary sensory and autonomic neuropathy skos:exactMatch icd11.foundation:1091217288 Hereditary sensory or autonomic neuropathy semapv:UnspecifiedMatching MONDO:0015364 hereditary sensory and autonomic neuropathy skos:exactMatch mesh:D009477 semapv:UnspecifiedMatching MONDO:0015365 obsolete autosomal dominant hereditary sensory and autonomic neuropathy skos:exactMatch Orphanet:140474 Autosomal dominant hereditary sensory and autonomic neuropathy semapv:UnspecifiedMatching MONDO:0015366 obsolete autosomal recessive hereditary sensory and autonomic neuropathy skos:exactMatch Orphanet:140477 Autosomal recessive hereditary sensory and autonomic neuropathy semapv:UnspecifiedMatching MONDO:0015367 Charlie M syndrome skos:exactMatch MEDGEN:1379887 semapv:UnspecifiedMatching MONDO:0015367 Charlie M syndrome skos:exactMatch Orphanet:1406 Charlie M syndrome semapv:UnspecifiedMatching MONDO:0015367 Charlie M syndrome skos:exactMatch SCTID:733034007 semapv:UnspecifiedMatching MONDO:0015367 Charlie M syndrome skos:exactMatch UMLS:C4518555 semapv:UnspecifiedMatching MONDO:0015367 Charlie M syndrome skos:exactMatch icd11.foundation:1284734481 Charlie M syndrome semapv:UnspecifiedMatching MONDO:0015368 obsolete neuro-ophthalmological disease skos:exactMatch Orphanet:140653 Neuro-ophthalmological disease semapv:UnspecifiedMatching MONDO:0015369 Joubert syndrome and related disorders skos:exactMatch MEDGEN:1826007 semapv:UnspecifiedMatching MONDO:0015369 Joubert syndrome and related disorders skos:exactMatch Orphanet:140874 Joubert syndrome and related disorders semapv:UnspecifiedMatching MONDO:0015369 Joubert syndrome and related disorders skos:exactMatch UMLS:C5679612 semapv:UnspecifiedMatching MONDO:0015371 linear atrophoderma of Moulin skos:exactMatch MEDGEN:698076 semapv:UnspecifiedMatching MONDO:0015371 linear atrophoderma of Moulin skos:exactMatch Orphanet:140933 Linear atrophoderma of Moulin semapv:UnspecifiedMatching MONDO:0015371 linear atrophoderma of Moulin skos:exactMatch SCTID:403395007 semapv:UnspecifiedMatching MONDO:0015371 linear atrophoderma of Moulin skos:exactMatch UMLS:C1274753 semapv:UnspecifiedMatching MONDO:0015371 linear atrophoderma of Moulin skos:exactMatch icd11.foundation:1116101506 Linear atrophoderma of Moulin semapv:UnspecifiedMatching MONDO:0015372 autosomal dominant macrothrombocytopenia skos:exactMatch MEDGEN:929690 semapv:UnspecifiedMatching MONDO:0015372 autosomal dominant macrothrombocytopenia skos:exactMatch Orphanet:140957 Autosomal dominant macrothrombocytopenia semapv:UnspecifiedMatching MONDO:0015372 autosomal dominant macrothrombocytopenia skos:exactMatch SCTID:720521008 semapv:UnspecifiedMatching MONDO:0015372 autosomal dominant macrothrombocytopenia skos:exactMatch UMLS:C4304021 semapv:UnspecifiedMatching MONDO:0015374 primary central nervous system vasculitis skos:exactMatch MEDGEN:419271 semapv:UnspecifiedMatching MONDO:0015374 primary central nervous system vasculitis skos:exactMatch Orphanet:140989 Primary angiitis of the central nervous system semapv:UnspecifiedMatching MONDO:0015374 primary central nervous system vasculitis skos:exactMatch UMLS:C2930862 semapv:UnspecifiedMatching MONDO:0015374 primary central nervous system vasculitis skos:exactMatch icd11.foundation:2130738127 Primary angiitis of the central nervous system semapv:UnspecifiedMatching MONDO:0015374 primary central nervous system vasculitis skos:exactMatch mesh:C537295 semapv:UnspecifiedMatching MONDO:0015375 orofaciodigital syndrome skos:exactMatch DOID:4501 orofaciodigital syndrome semapv:UnspecifiedMatching MONDO:0015375 orofaciodigital syndrome skos:exactMatch MEDGEN:14518 semapv:UnspecifiedMatching MONDO:0015375 orofaciodigital syndrome skos:exactMatch OMIMPS:311200 Orofaciodigital syndrome semapv:UnspecifiedMatching MONDO:0015375 orofaciodigital syndrome skos:exactMatch Orphanet:140997 Orofaciodigital syndrome semapv:UnspecifiedMatching MONDO:0015375 orofaciodigital syndrome skos:exactMatch SCTID:52868006 semapv:UnspecifiedMatching MONDO:0015375 orofaciodigital syndrome skos:exactMatch UMLS:C0029294 semapv:UnspecifiedMatching MONDO:0015375 orofaciodigital syndrome skos:exactMatch icd11.foundation:1405407847 Oral-facial-digital syndrome semapv:UnspecifiedMatching MONDO:0015375 orofaciodigital syndrome skos:exactMatch mesh:D009958 semapv:UnspecifiedMatching MONDO:0015376 first branchial cleft anomaly skos:exactMatch MEDGEN:848144 semapv:UnspecifiedMatching MONDO:0015376 first branchial cleft anomaly skos:exactMatch Orphanet:141013 First branchial cleft anomaly semapv:UnspecifiedMatching MONDO:0015376 first branchial cleft anomaly skos:exactMatch SCTID:73371000119103 semapv:UnspecifiedMatching MONDO:0015376 first branchial cleft anomaly skos:exactMatch UMLS:C3874320 semapv:UnspecifiedMatching MONDO:0015376 first branchial cleft anomaly skos:exactMatch icd11.foundation:1956658224 First branchial cleft anomaly semapv:UnspecifiedMatching MONDO:0015377 third branchial cleft anomaly skos:exactMatch MEDGEN:850398 semapv:UnspecifiedMatching MONDO:0015377 third branchial cleft anomaly skos:exactMatch Orphanet:141030 Third branchial cleft anomaly semapv:UnspecifiedMatching MONDO:0015377 third branchial cleft anomaly skos:exactMatch SCTID:73391000119102 semapv:UnspecifiedMatching MONDO:0015377 third branchial cleft anomaly skos:exactMatch UMLS:C3874314 semapv:UnspecifiedMatching MONDO:0015378 fourth branchial cleft anomaly skos:exactMatch MEDGEN:837698 semapv:UnspecifiedMatching MONDO:0015378 fourth branchial cleft anomaly skos:exactMatch Orphanet:141037 Fourth branchial cleft anomaly semapv:UnspecifiedMatching MONDO:0015378 fourth branchial cleft anomaly skos:exactMatch SCTID:707234001 semapv:UnspecifiedMatching MONDO:0015378 fourth branchial cleft anomaly skos:exactMatch UMLS:C3873490 semapv:UnspecifiedMatching MONDO:0015379 cervical dermoid cyst skos:exactMatch MEDGEN:1643725 semapv:UnspecifiedMatching MONDO:0015379 cervical dermoid cyst skos:exactMatch Orphanet:141046 Cervical dermoid cyst semapv:UnspecifiedMatching MONDO:0015379 cervical dermoid cyst skos:exactMatch SCTID:763129001 semapv:UnspecifiedMatching MONDO:0015379 cervical dermoid cyst skos:exactMatch UMLS:C4706299 semapv:UnspecifiedMatching MONDO:0015380 facial dermoid cyst skos:exactMatch MEDGEN:1646552 semapv:UnspecifiedMatching MONDO:0015380 facial dermoid cyst skos:exactMatch Orphanet:141051 Facial dermoid cyst semapv:UnspecifiedMatching MONDO:0015380 facial dermoid cyst skos:exactMatch SCTID:763220008 semapv:UnspecifiedMatching MONDO:0015380 facial dermoid cyst skos:exactMatch UMLS:C4706321 semapv:UnspecifiedMatching MONDO:0015381 commissural lip fistula skos:exactMatch MEDGEN:1809431 semapv:UnspecifiedMatching MONDO:0015381 commissural lip fistula skos:exactMatch Orphanet:141061 Commissural lip fistula semapv:UnspecifiedMatching MONDO:0015381 commissural lip fistula skos:exactMatch UMLS:C5680634 semapv:UnspecifiedMatching MONDO:0015381 commissural lip fistula skos:exactMatch icd11.foundation:27017896 Commissural lip fistula semapv:UnspecifiedMatching MONDO:0015382 lower lip fistula skos:exactMatch MEDGEN:698113 semapv:UnspecifiedMatching MONDO:0015382 lower lip fistula skos:exactMatch Orphanet:141064 Isolated lower lip fistula semapv:UnspecifiedMatching MONDO:0015382 lower lip fistula skos:exactMatch UMLS:C1274792 semapv:UnspecifiedMatching MONDO:0015382 lower lip fistula skos:exactMatch icd11.foundation:230523092 Lower lip fistula semapv:UnspecifiedMatching MONDO:0015383 cervicofacial fibrochondroma skos:exactMatch MEDGEN:1684766 semapv:UnspecifiedMatching MONDO:0015383 cervicofacial fibrochondroma skos:exactMatch Orphanet:141067 Cervicofacial fibrochondroma semapv:UnspecifiedMatching MONDO:0015383 cervicofacial fibrochondroma skos:exactMatch UMLS:C5231314 semapv:UnspecifiedMatching MONDO:0015383 cervicofacial fibrochondroma skos:exactMatch icd11.foundation:427530222 Cervicofacial fibrochondroma semapv:UnspecifiedMatching MONDO:0015384 digestive duplication cyst of the tongue skos:exactMatch MEDGEN:1393450 semapv:UnspecifiedMatching MONDO:0015384 digestive duplication cyst of the tongue skos:exactMatch Orphanet:141071 Isolated digestive duplication cyst of the tongue semapv:UnspecifiedMatching MONDO:0015384 digestive duplication cyst of the tongue skos:exactMatch UMLS:C4512051 semapv:UnspecifiedMatching MONDO:0015385 obsolete external auditory canal aplasia/hypoplasia skos:exactMatch Orphanet:141074 External auditory canal aplasia/hypoplasia semapv:UnspecifiedMatching MONDO:0015385 obsolete external auditory canal aplasia/hypoplasia skos:exactMatch icd11.foundation:534621578 Aplasia or hypoplasia of external auditory canal semapv:UnspecifiedMatching MONDO:0015386 epignathus skos:exactMatch MEDGEN:540117 semapv:UnspecifiedMatching MONDO:0015386 epignathus skos:exactMatch Orphanet:141077 Epignathus semapv:UnspecifiedMatching MONDO:0015386 epignathus skos:exactMatch SCTID:31248004 semapv:UnspecifiedMatching MONDO:0015386 epignathus skos:exactMatch UMLS:C0266725 semapv:UnspecifiedMatching MONDO:0015386 epignathus skos:exactMatch icd11.foundation:7319064 Epignathus semapv:UnspecifiedMatching MONDO:0015387 nasolacrimal duct cyst skos:exactMatch MEDGEN:1810477 semapv:UnspecifiedMatching MONDO:0015387 nasolacrimal duct cyst skos:exactMatch Orphanet:141083 Nasolacrimal duct cyst semapv:UnspecifiedMatching MONDO:0015387 nasolacrimal duct cyst skos:exactMatch UMLS:C5575612 semapv:UnspecifiedMatching MONDO:0015388 polyrrhinia skos:exactMatch MEDGEN:894825 semapv:UnspecifiedMatching MONDO:0015388 polyrrhinia skos:exactMatch Orphanet:141091 Polyrrhinia semapv:UnspecifiedMatching MONDO:0015388 polyrrhinia skos:exactMatch SCTID:716279002 semapv:UnspecifiedMatching MONDO:0015388 polyrrhinia skos:exactMatch UMLS:C4274730 semapv:UnspecifiedMatching MONDO:0015388 polyrrhinia skos:exactMatch icd11.foundation:142812177 Polyrrhinia semapv:UnspecifiedMatching MONDO:0015389 supernumerary nostril skos:exactMatch MEDGEN:867014 semapv:UnspecifiedMatching MONDO:0015389 supernumerary nostril skos:exactMatch Orphanet:141096 Supernumerary nostril semapv:UnspecifiedMatching MONDO:0015389 supernumerary nostril skos:exactMatch SCTID:719163006 semapv:UnspecifiedMatching MONDO:0015389 supernumerary nostril skos:exactMatch UMLS:C4021372 semapv:UnspecifiedMatching MONDO:0015389 supernumerary nostril skos:exactMatch icd11.foundation:306735786 Supernumerary nostril semapv:UnspecifiedMatching MONDO:0015390 proboscis lateralis skos:exactMatch MEDGEN:900031 semapv:UnspecifiedMatching MONDO:0015390 proboscis lateralis skos:exactMatch Orphanet:141099 Proboscis lateralis semapv:UnspecifiedMatching MONDO:0015390 proboscis lateralis skos:exactMatch SCTID:715828006 semapv:UnspecifiedMatching MONDO:0015390 proboscis lateralis skos:exactMatch UMLS:C4274985 semapv:UnspecifiedMatching MONDO:0015390 proboscis lateralis skos:exactMatch icd11.foundation:646148612 Proboscis lateralis semapv:UnspecifiedMatching MONDO:0015391 nasopharyngeal teratoma skos:exactMatch MEDGEN:1625954 semapv:UnspecifiedMatching MONDO:0015391 nasopharyngeal teratoma skos:exactMatch NCIT:C202982 Nasopharyngeal Teratoma semapv:UnspecifiedMatching MONDO:0015391 nasopharyngeal teratoma skos:exactMatch Orphanet:141107 Nasopharyngeal teratoma semapv:UnspecifiedMatching MONDO:0015391 nasopharyngeal teratoma skos:exactMatch UMLS:C4531264 semapv:UnspecifiedMatching MONDO:0015391 nasopharyngeal teratoma skos:exactMatch icd11.foundation:1597380817 Nasopharyngeal teratoma semapv:UnspecifiedMatching MONDO:0015392 nasal glial heterotopia skos:exactMatch MEDGEN:539951 semapv:UnspecifiedMatching MONDO:0015392 nasal glial heterotopia skos:exactMatch Orphanet:141112 Nasal glial heterotopia semapv:UnspecifiedMatching MONDO:0015392 nasal glial heterotopia skos:exactMatch SCTID:5645008 semapv:UnspecifiedMatching MONDO:0015392 nasal glial heterotopia skos:exactMatch UMLS:C0266490 semapv:UnspecifiedMatching MONDO:0015392 nasal glial heterotopia skos:exactMatch icd11.foundation:1449384774 Nasal glial heterotopia semapv:UnspecifiedMatching MONDO:0015393 nasal ganglioglioma skos:exactMatch MEDGEN:1786513 semapv:UnspecifiedMatching MONDO:0015393 nasal ganglioglioma skos:exactMatch Orphanet:141115 Nasal ganglioglioma semapv:UnspecifiedMatching MONDO:0015393 nasal ganglioglioma skos:exactMatch UMLS:C5548206 semapv:UnspecifiedMatching MONDO:0015393 nasal ganglioglioma skos:exactMatch icd11.foundation:40917416 Nasal ganglioglioma semapv:UnspecifiedMatching MONDO:0015394 nasal encephalocele skos:exactMatch MEDGEN:507680 semapv:UnspecifiedMatching MONDO:0015394 nasal encephalocele skos:exactMatch Orphanet:141118 Nasal encephalocele semapv:UnspecifiedMatching MONDO:0015394 nasal encephalocele skos:exactMatch SCTID:65455002 semapv:UnspecifiedMatching MONDO:0015394 nasal encephalocele skos:exactMatch UMLS:C0014066 semapv:UnspecifiedMatching MONDO:0015394 nasal encephalocele skos:exactMatch icd11.foundation:884932601 Nasal encephalocele semapv:UnspecifiedMatching MONDO:0015395 congenital subglottic stenosis skos:exactMatch ICD10CM:Q31.1 Congenital subglottic stenosis semapv:UnspecifiedMatching MONDO:0015395 congenital subglottic stenosis skos:exactMatch MEDGEN:97973 semapv:UnspecifiedMatching MONDO:0015395 congenital subglottic stenosis skos:exactMatch Orphanet:141121 Congenital subglottic stenosis semapv:UnspecifiedMatching MONDO:0015395 congenital subglottic stenosis skos:exactMatch SCTID:204552001 semapv:UnspecifiedMatching MONDO:0015395 congenital subglottic stenosis skos:exactMatch UMLS:C0396051 semapv:UnspecifiedMatching MONDO:0015395 congenital subglottic stenosis skos:exactMatch icd11.foundation:76585642 Congenital subglottic stenosis semapv:UnspecifiedMatching MONDO:0015396 congenital laryngeal cyst skos:exactMatch MEDGEN:451040 semapv:UnspecifiedMatching MONDO:0015396 congenital laryngeal cyst skos:exactMatch Orphanet:141124 Congenital laryngeal cyst semapv:UnspecifiedMatching MONDO:0015396 congenital laryngeal cyst skos:exactMatch SCTID:765763007 semapv:UnspecifiedMatching MONDO:0015396 congenital laryngeal cyst skos:exactMatch UMLS:C0339880 semapv:UnspecifiedMatching MONDO:0015396 congenital laryngeal cyst skos:exactMatch icd11.foundation:591042640 Congenital laryngeal cyst semapv:UnspecifiedMatching MONDO:0015397 craniofacial microsomia skos:exactMatch DOID:2907 Goldenhar syndrome semapv:UnspecifiedMatching MONDO:0015397 craniofacial microsomia skos:exactMatch MEDGEN:75554 semapv:UnspecifiedMatching MONDO:0015397 craniofacial microsomia skos:exactMatch NCIT:C84740 Goldenhar Syndrome semapv:UnspecifiedMatching MONDO:0015397 craniofacial microsomia skos:exactMatch OMIMPS:164210 Craniofacial microsomia semapv:UnspecifiedMatching MONDO:0015397 craniofacial microsomia skos:exactMatch Orphanet:141132 Oculo-auriculo-vertebral spectrum semapv:UnspecifiedMatching MONDO:0015397 craniofacial microsomia skos:exactMatch SCTID:109393007 semapv:UnspecifiedMatching MONDO:0015397 craniofacial microsomia skos:exactMatch SCTID:367462009 semapv:UnspecifiedMatching MONDO:0015397 craniofacial microsomia skos:exactMatch UMLS:C0265240 semapv:UnspecifiedMatching MONDO:0015397 craniofacial microsomia skos:exactMatch mesh:D006053 semapv:UnspecifiedMatching MONDO:0015399 glossopalatine ankylosis skos:exactMatch MEDGEN:929238 semapv:UnspecifiedMatching MONDO:0015399 glossopalatine ankylosis skos:exactMatch Orphanet:141163 Glossopalatine ankylosis semapv:UnspecifiedMatching MONDO:0015399 glossopalatine ankylosis skos:exactMatch SCTID:717814004 semapv:UnspecifiedMatching MONDO:0015399 glossopalatine ankylosis skos:exactMatch UMLS:C4303569 semapv:UnspecifiedMatching MONDO:0015399 glossopalatine ankylosis skos:exactMatch icd11.foundation:1608847387 Glossopalatine ankylosis semapv:UnspecifiedMatching MONDO:0015400 frontonasal arteriovenous malformation skos:exactMatch MEDGEN:824839 semapv:UnspecifiedMatching MONDO:0015400 frontonasal arteriovenous malformation skos:exactMatch Orphanet:141168 Frontonasal arteriovenous malformation semapv:UnspecifiedMatching MONDO:0015400 frontonasal arteriovenous malformation skos:exactMatch UMLS:C3838993 semapv:UnspecifiedMatching MONDO:0015400 frontonasal arteriovenous malformation skos:exactMatch icd11.foundation:1779519580 Frontonasal arteriovenous malformation semapv:UnspecifiedMatching MONDO:0015401 maxillary arteriovenous malformation skos:exactMatch MEDGEN:825655 semapv:UnspecifiedMatching MONDO:0015401 maxillary arteriovenous malformation skos:exactMatch Orphanet:141171 Maxillary arteriovenous malformation semapv:UnspecifiedMatching MONDO:0015401 maxillary arteriovenous malformation skos:exactMatch SCTID:703335004 semapv:UnspecifiedMatching MONDO:0015401 maxillary arteriovenous malformation skos:exactMatch UMLS:C3839810 semapv:UnspecifiedMatching MONDO:0015401 maxillary arteriovenous malformation skos:exactMatch icd11.foundation:1755286955 Maxillary arteriovenous malformation semapv:UnspecifiedMatching MONDO:0015402 mandibular arteriovenous malformation skos:exactMatch MEDGEN:825297 semapv:UnspecifiedMatching MONDO:0015402 mandibular arteriovenous malformation skos:exactMatch Orphanet:141174 Mandibular arteriovenous malformation semapv:UnspecifiedMatching MONDO:0015402 mandibular arteriovenous malformation skos:exactMatch SCTID:703334000 semapv:UnspecifiedMatching MONDO:0015402 mandibular arteriovenous malformation skos:exactMatch UMLS:C3839452 semapv:UnspecifiedMatching MONDO:0015402 mandibular arteriovenous malformation skos:exactMatch icd11.foundation:113998538 Mandibular arteriovenous malformation semapv:UnspecifiedMatching MONDO:0015403 non-involuting congenital hemangioma skos:exactMatch MEDGEN:698685 semapv:UnspecifiedMatching MONDO:0015403 non-involuting congenital hemangioma skos:exactMatch NCIT:C172208 Non-Involuting Congenital Hemangioma semapv:UnspecifiedMatching MONDO:0015403 non-involuting congenital hemangioma skos:exactMatch Orphanet:141179 Non-involuting congenital hemangioma semapv:UnspecifiedMatching MONDO:0015403 non-involuting congenital hemangioma skos:exactMatch SCTID:703295003 semapv:UnspecifiedMatching MONDO:0015403 non-involuting congenital hemangioma skos:exactMatch UMLS:C1275417 semapv:UnspecifiedMatching MONDO:0015404 rapidly involuting congenital hemangioma skos:exactMatch DOID:0080895 rapidly involuting congenital hemangioma semapv:UnspecifiedMatching MONDO:0015404 rapidly involuting congenital hemangioma skos:exactMatch MEDGEN:698687 semapv:UnspecifiedMatching MONDO:0015404 rapidly involuting congenital hemangioma skos:exactMatch NCIT:C172207 Rapidly Involuting Congenital Hemangioma semapv:UnspecifiedMatching MONDO:0015404 rapidly involuting congenital hemangioma skos:exactMatch Orphanet:141184 Rapidly involuting congenital hemangioma semapv:UnspecifiedMatching MONDO:0015404 rapidly involuting congenital hemangioma skos:exactMatch SCTID:703294004 semapv:UnspecifiedMatching MONDO:0015404 rapidly involuting congenital hemangioma skos:exactMatch UMLS:C1275421 semapv:UnspecifiedMatching MONDO:0015405 cerebrofacial arteriovenous metameric syndrome skos:exactMatch MEDGEN:825110 semapv:UnspecifiedMatching MONDO:0015405 cerebrofacial arteriovenous metameric syndrome skos:exactMatch Orphanet:141189 Cerebrofacial arteriovenous metameric syndrome semapv:UnspecifiedMatching MONDO:0015405 cerebrofacial arteriovenous metameric syndrome skos:exactMatch SCTID:703266007 semapv:UnspecifiedMatching MONDO:0015405 cerebrofacial arteriovenous metameric syndrome skos:exactMatch UMLS:C3839265 semapv:UnspecifiedMatching MONDO:0015405 cerebrofacial arteriovenous metameric syndrome skos:exactMatch icd11.foundation:1402414905 Cerebrofacial arteriovenous metameric syndrome semapv:UnspecifiedMatching MONDO:0015406 cerebrofacial arteriovenous metameric syndrome type 1 skos:exactMatch MEDGEN:825947 semapv:UnspecifiedMatching MONDO:0015406 cerebrofacial arteriovenous metameric syndrome type 1 skos:exactMatch Orphanet:141194 Cerebrofacial arteriovenous metameric syndrome type 1 semapv:UnspecifiedMatching MONDO:0015406 cerebrofacial arteriovenous metameric syndrome type 1 skos:exactMatch SCTID:703267003 semapv:UnspecifiedMatching MONDO:0015406 cerebrofacial arteriovenous metameric syndrome type 1 skos:exactMatch UMLS:C3840102 semapv:UnspecifiedMatching MONDO:0015406 cerebrofacial arteriovenous metameric syndrome type 1 skos:exactMatch icd11.foundation:796738143 Cerebrofacial arteriovenous metameric syndrome type 1 semapv:UnspecifiedMatching MONDO:0015407 cerebrofacial arteriovenous metameric syndrome type 3 skos:exactMatch MEDGEN:824537 semapv:UnspecifiedMatching MONDO:0015407 cerebrofacial arteriovenous metameric syndrome type 3 skos:exactMatch Orphanet:141199 Cerebrofacial arteriovenous metameric syndrome type 3 semapv:UnspecifiedMatching MONDO:0015407 cerebrofacial arteriovenous metameric syndrome type 3 skos:exactMatch SCTID:703268008 semapv:UnspecifiedMatching MONDO:0015407 cerebrofacial arteriovenous metameric syndrome type 3 skos:exactMatch UMLS:C3838691 semapv:UnspecifiedMatching MONDO:0015407 cerebrofacial arteriovenous metameric syndrome type 3 skos:exactMatch icd11.foundation:1048965538 Cerebrofacial arteriovenous metameric syndrome type 3 semapv:UnspecifiedMatching MONDO:0015408 diffuse lymphatic malformation skos:exactMatch DOID:0081031 generalized lymphatic anomaly semapv:UnspecifiedMatching MONDO:0015408 diffuse lymphatic malformation skos:exactMatch MEDGEN:825766 semapv:UnspecifiedMatching MONDO:0015408 diffuse lymphatic malformation skos:exactMatch Orphanet:141209 Diffuse lymphatic malformation semapv:UnspecifiedMatching MONDO:0015408 diffuse lymphatic malformation skos:exactMatch SCTID:703298001 semapv:UnspecifiedMatching MONDO:0015408 diffuse lymphatic malformation skos:exactMatch UMLS:C3839921 semapv:UnspecifiedMatching MONDO:0015408 diffuse lymphatic malformation skos:exactMatch icd11.foundation:913891613 Disseminated lymphangiomatosis semapv:UnspecifiedMatching MONDO:0015409 isolated congenital syngnathia skos:exactMatch MEDGEN:1635309 semapv:UnspecifiedMatching MONDO:0015409 isolated congenital syngnathia skos:exactMatch Orphanet:141214 Isolated congenital syngnathia semapv:UnspecifiedMatching MONDO:0015409 isolated congenital syngnathia skos:exactMatch SCTID:763317002 semapv:UnspecifiedMatching MONDO:0015409 isolated congenital syngnathia skos:exactMatch UMLS:C4706392 semapv:UnspecifiedMatching MONDO:0015410 nasal dorsum fistula/cyst skos:exactMatch MEDGEN:573381 semapv:UnspecifiedMatching MONDO:0015410 nasal dorsum fistula/cyst skos:exactMatch Orphanet:141219 Nasal dorsum fistula semapv:UnspecifiedMatching MONDO:0015410 nasal dorsum fistula/cyst skos:exactMatch UMLS:C0339853 semapv:UnspecifiedMatching MONDO:0015411 facial cleft skos:exactMatch MEDGEN:146898 semapv:UnspecifiedMatching MONDO:0015411 facial cleft skos:exactMatch NCIT:C124510 Facial Cleft semapv:UnspecifiedMatching MONDO:0015411 facial cleft skos:exactMatch Orphanet:141229 Facial cleft semapv:UnspecifiedMatching MONDO:0015411 facial cleft skos:exactMatch SCTID:92821006 semapv:UnspecifiedMatching MONDO:0015411 facial cleft skos:exactMatch UMLS:C0685787 semapv:UnspecifiedMatching MONDO:0015411 facial cleft skos:exactMatch icd11.foundation:11389088 Facial clefts semapv:UnspecifiedMatching MONDO:0015412 obsolete median facial cleft skos:exactMatch Orphanet:141234 Median facial cleft semapv:UnspecifiedMatching MONDO:0015413 median cleft of the upper lip and maxilla skos:exactMatch MEDGEN:784645 semapv:UnspecifiedMatching MONDO:0015413 median cleft of the upper lip and maxilla skos:exactMatch Orphanet:141239 Median cleft of the upper lip and maxilla semapv:UnspecifiedMatching MONDO:0015413 median cleft of the upper lip and maxilla skos:exactMatch UMLS:C3697381 semapv:UnspecifiedMatching MONDO:0015414 paramedian nasal cleft skos:exactMatch MEDGEN:1681273 semapv:UnspecifiedMatching MONDO:0015414 paramedian nasal cleft skos:exactMatch Orphanet:141242 Paramedian nasal cleft semapv:UnspecifiedMatching MONDO:0015414 paramedian nasal cleft skos:exactMatch SCTID:204521002 semapv:UnspecifiedMatching MONDO:0015414 paramedian nasal cleft skos:exactMatch UMLS:C4759655 semapv:UnspecifiedMatching MONDO:0015414 paramedian nasal cleft skos:exactMatch icd11.foundation:1147502981 Paramedian nasal cleft semapv:UnspecifiedMatching MONDO:0015415 obsolete oblique facial cleft skos:exactMatch Orphanet:141253 Oblique facial cleft semapv:UnspecifiedMatching MONDO:0015416 Tessier number 5 facial cleft skos:exactMatch MEDGEN:609364 semapv:UnspecifiedMatching MONDO:0015416 Tessier number 5 facial cleft skos:exactMatch Orphanet:141261 Tessier number 5 facial cleft semapv:UnspecifiedMatching MONDO:0015416 Tessier number 5 facial cleft skos:exactMatch UMLS:C0432119 semapv:UnspecifiedMatching MONDO:0015416 Tessier number 5 facial cleft skos:exactMatch icd11.foundation:2138256187 Tessier number 5 facial cleft semapv:UnspecifiedMatching MONDO:0015417 Tessier number 6 facial cleft skos:exactMatch MEDGEN:609365 semapv:UnspecifiedMatching MONDO:0015417 Tessier number 6 facial cleft skos:exactMatch Orphanet:141265 Tessier number 6 facial cleft semapv:UnspecifiedMatching MONDO:0015417 Tessier number 6 facial cleft skos:exactMatch UMLS:C0432120 semapv:UnspecifiedMatching MONDO:0015417 Tessier number 6 facial cleft skos:exactMatch icd11.foundation:1934815559 Tessier number 6 facial cleft semapv:UnspecifiedMatching MONDO:0015418 obsolete lateral facial cleft skos:exactMatch Orphanet:141269 Lateral facial cleft semapv:UnspecifiedMatching MONDO:0015419 midline cervical cleft skos:exactMatch MEDGEN:1374384 semapv:UnspecifiedMatching MONDO:0015419 midline cervical cleft skos:exactMatch Orphanet:141288 Midline cervical cleft semapv:UnspecifiedMatching MONDO:0015419 midline cervical cleft skos:exactMatch SCTID:403557001 semapv:UnspecifiedMatching MONDO:0015419 midline cervical cleft skos:exactMatch UMLS:C4479645 semapv:UnspecifiedMatching MONDO:0015419 midline cervical cleft skos:exactMatch icd11.foundation:1138096311 Midline cervical cleft semapv:UnspecifiedMatching MONDO:0015420 cleft lip and alveolus skos:exactMatch MEDGEN:720590 semapv:UnspecifiedMatching MONDO:0015420 cleft lip and alveolus skos:exactMatch Orphanet:141291 Cleft lip and alveolus semapv:UnspecifiedMatching MONDO:0015420 cleft lip and alveolus skos:exactMatch SCTID:373643003 semapv:UnspecifiedMatching MONDO:0015420 cleft lip and alveolus skos:exactMatch UMLS:C1298692 semapv:UnspecifiedMatching MONDO:0015420 cleft lip and alveolus skos:exactMatch icd11.foundation:1653169553 Cleft lip and alveolus semapv:UnspecifiedMatching MONDO:0015421 orofaciodigital syndrome type 12 skos:exactMatch MEDGEN:420948 semapv:UnspecifiedMatching MONDO:0015421 orofaciodigital syndrome type 12 skos:exactMatch SCTID:763834000 semapv:UnspecifiedMatching MONDO:0015421 orofaciodigital syndrome type 12 skos:exactMatch UMLS:C2932679 semapv:UnspecifiedMatching MONDO:0015421 orofaciodigital syndrome type 12 skos:exactMatch mesh:C548034 semapv:UnspecifiedMatching MONDO:0015422 obsolete orofaciodigital syndrome type 13 skos:exactMatch Orphanet:141330 OBSOLETE: Orofaciodigital syndrome type 13 semapv:UnspecifiedMatching MONDO:0015422 obsolete orofaciodigital syndrome type 13 skos:exactMatch SCTID:763835004 semapv:UnspecifiedMatching MONDO:0015422 obsolete orofaciodigital syndrome type 13 skos:exactMatch mesh:C548035 semapv:UnspecifiedMatching MONDO:0015424 obsolete lethal chondrodysplasia, Moerman type skos:exactMatch Orphanet:1420 OBSOLETE: Lethal chondrodysplasia, Moerman type semapv:UnspecifiedMatching MONDO:0015425 lethal recessive chondrodysplasia skos:exactMatch MEDGEN:930414 semapv:UnspecifiedMatching MONDO:0015425 lethal recessive chondrodysplasia skos:exactMatch Orphanet:1423 Lethal recessive chondrodysplasia semapv:UnspecifiedMatching MONDO:0015425 lethal recessive chondrodysplasia skos:exactMatch SCTID:719404009 semapv:UnspecifiedMatching MONDO:0015425 lethal recessive chondrodysplasia skos:exactMatch UMLS:C4304745 semapv:UnspecifiedMatching MONDO:0015425 lethal recessive chondrodysplasia skos:exactMatch icd11.foundation:550352998 Lethal recessive chondrodysplasia semapv:UnspecifiedMatching MONDO:0015426 Desbuquois dysplasia skos:exactMatch DOID:0060462 Desbuquois dysplasia semapv:UnspecifiedMatching MONDO:0015426 Desbuquois dysplasia skos:exactMatch MEDGEN:98479 semapv:UnspecifiedMatching MONDO:0015426 Desbuquois dysplasia skos:exactMatch NCIT:C124056 Desbuquois Dysplasia semapv:UnspecifiedMatching MONDO:0015426 Desbuquois dysplasia skos:exactMatch OMIMPS:251450 Desbuquois dysplasia semapv:UnspecifiedMatching MONDO:0015426 Desbuquois dysplasia skos:exactMatch Orphanet:1425 Desbuquois syndrome semapv:UnspecifiedMatching MONDO:0015426 Desbuquois dysplasia skos:exactMatch SCTID:254099008 semapv:UnspecifiedMatching MONDO:0015426 Desbuquois dysplasia skos:exactMatch UMLS:C0432242 semapv:UnspecifiedMatching MONDO:0015427 paroxysmal dyskinesia skos:exactMatch MEDGEN:156242 semapv:UnspecifiedMatching MONDO:0015427 paroxysmal dyskinesia skos:exactMatch Orphanet:1431 Paroxysmal dyskinesia semapv:UnspecifiedMatching MONDO:0015427 paroxysmal dyskinesia skos:exactMatch SCTID:49949003 semapv:UnspecifiedMatching MONDO:0015427 paroxysmal dyskinesia skos:exactMatch UMLS:C0752210 semapv:UnspecifiedMatching MONDO:0015428 choroidal atrophy-alopecia syndrome skos:exactMatch MEDGEN:419316 semapv:UnspecifiedMatching MONDO:0015428 choroidal atrophy-alopecia syndrome skos:exactMatch Orphanet:1433 Choroidal atrophy-alopecia syndrome semapv:UnspecifiedMatching MONDO:0015428 choroidal atrophy-alopecia syndrome skos:exactMatch SCTID:720850008 semapv:UnspecifiedMatching MONDO:0015428 choroidal atrophy-alopecia syndrome skos:exactMatch UMLS:C2931026 semapv:UnspecifiedMatching MONDO:0015428 choroidal atrophy-alopecia syndrome skos:exactMatch mesh:C535810 semapv:UnspecifiedMatching MONDO:0015430 ring chromosome 1 skos:exactMatch MEDGEN:539215 semapv:UnspecifiedMatching MONDO:0015430 ring chromosome 1 skos:exactMatch Orphanet:1437 Ring chromosome 1 syndrome semapv:UnspecifiedMatching MONDO:0015430 ring chromosome 1 skos:exactMatch SCTID:47017007 semapv:UnspecifiedMatching MONDO:0015430 ring chromosome 1 skos:exactMatch UMLS:C0265395 semapv:UnspecifiedMatching MONDO:0015430 ring chromosome 1 skos:exactMatch mesh:C535361 semapv:UnspecifiedMatching MONDO:0015431 ring chromosome 10 skos:exactMatch MEDGEN:539252 semapv:UnspecifiedMatching MONDO:0015431 ring chromosome 10 skos:exactMatch Orphanet:1438 Ring chromosome 10 syndrome semapv:UnspecifiedMatching MONDO:0015431 ring chromosome 10 skos:exactMatch SCTID:86997002 semapv:UnspecifiedMatching MONDO:0015431 ring chromosome 10 skos:exactMatch UMLS:C0265438 semapv:UnspecifiedMatching MONDO:0015431 ring chromosome 10 skos:exactMatch mesh:C538086 semapv:UnspecifiedMatching MONDO:0015432 ring chromosome 12 skos:exactMatch MEDGEN:162879 semapv:UnspecifiedMatching MONDO:0015432 ring chromosome 12 skos:exactMatch Orphanet:1439 Ring chromosome 12 syndrome semapv:UnspecifiedMatching MONDO:0015432 ring chromosome 12 skos:exactMatch UMLS:C0795843 semapv:UnspecifiedMatching MONDO:0015432 ring chromosome 12 skos:exactMatch mesh:C538298 semapv:UnspecifiedMatching MONDO:0015433 ring chromosome 17 skos:exactMatch MEDGEN:419477 semapv:UnspecifiedMatching MONDO:0015433 ring chromosome 17 skos:exactMatch Orphanet:1441 Ring chromosome 17 syndrome semapv:UnspecifiedMatching MONDO:0015433 ring chromosome 17 skos:exactMatch UMLS:C2931714 semapv:UnspecifiedMatching MONDO:0015433 ring chromosome 17 skos:exactMatch mesh:C538046 semapv:UnspecifiedMatching MONDO:0015434 ring chromosome 18 skos:exactMatch MEDGEN:539285 semapv:UnspecifiedMatching MONDO:0015434 ring chromosome 18 skos:exactMatch Orphanet:1442 Ring chromosome 18 syndrome semapv:UnspecifiedMatching MONDO:0015434 ring chromosome 18 skos:exactMatch SCTID:88154004 semapv:UnspecifiedMatching MONDO:0015434 ring chromosome 18 skos:exactMatch UMLS:C0265475 semapv:UnspecifiedMatching MONDO:0015434 ring chromosome 18 skos:exactMatch mesh:C538304 semapv:UnspecifiedMatching MONDO:0015435 ring chromosome 19 skos:exactMatch MEDGEN:419501 semapv:UnspecifiedMatching MONDO:0015435 ring chromosome 19 skos:exactMatch Orphanet:1443 Ring chromosome 19 syndrome semapv:UnspecifiedMatching MONDO:0015435 ring chromosome 19 skos:exactMatch SCTID:765484001 semapv:UnspecifiedMatching MONDO:0015435 ring chromosome 19 skos:exactMatch UMLS:C2931812 semapv:UnspecifiedMatching MONDO:0015435 ring chromosome 19 skos:exactMatch mesh:C538310 semapv:UnspecifiedMatching MONDO:0015436 ring chromosome 20 skos:exactMatch DOID:0070622 ring chromosome 20 syndrome semapv:UnspecifiedMatching MONDO:0015436 ring chromosome 20 skos:exactMatch MEDGEN:489853 semapv:UnspecifiedMatching MONDO:0015436 ring chromosome 20 skos:exactMatch NCIT:C169001 Ring Chromosome 20 Syndrome semapv:UnspecifiedMatching MONDO:0015436 ring chromosome 20 skos:exactMatch Orphanet:1444 Ring chromosome 20 syndrome semapv:UnspecifiedMatching MONDO:0015436 ring chromosome 20 skos:exactMatch SCTID:23686004 semapv:UnspecifiedMatching MONDO:0015436 ring chromosome 20 skos:exactMatch UMLS:C0265482 semapv:UnspecifiedMatching MONDO:0015436 ring chromosome 20 skos:exactMatch mesh:C580424 semapv:UnspecifiedMatching MONDO:0015437 ring chromosome 21 skos:exactMatch MEDGEN:419409 semapv:UnspecifiedMatching MONDO:0015437 ring chromosome 21 skos:exactMatch Orphanet:1445 Ring chromosome 21 syndrome semapv:UnspecifiedMatching MONDO:0015437 ring chromosome 21 skos:exactMatch SCTID:31325007 semapv:UnspecifiedMatching MONDO:0015437 ring chromosome 21 skos:exactMatch UMLS:C2931422 semapv:UnspecifiedMatching MONDO:0015437 ring chromosome 21 skos:exactMatch mesh:C537109 semapv:UnspecifiedMatching MONDO:0015438 ring chromosome 22 skos:exactMatch MEDGEN:539299 semapv:UnspecifiedMatching MONDO:0015438 ring chromosome 22 skos:exactMatch Orphanet:1446 Ring chromosome 22 syndrome semapv:UnspecifiedMatching MONDO:0015438 ring chromosome 22 skos:exactMatch SCTID:13555004 semapv:UnspecifiedMatching MONDO:0015438 ring chromosome 22 skos:exactMatch UMLS:C0265492 semapv:UnspecifiedMatching MONDO:0015438 ring chromosome 22 skos:exactMatch mesh:C536795 semapv:UnspecifiedMatching MONDO:0015439 ring chromosome 4 skos:exactMatch MEDGEN:75571 semapv:UnspecifiedMatching MONDO:0015439 ring chromosome 4 skos:exactMatch NCIT:C121983 ROSE Cluster 4 semapv:UnspecifiedMatching MONDO:0015439 ring chromosome 4 skos:exactMatch Orphanet:1447 Ring chromosome 4 syndrome semapv:UnspecifiedMatching MONDO:0015439 ring chromosome 4 skos:exactMatch SCTID:81678004 semapv:UnspecifiedMatching MONDO:0015439 ring chromosome 4 skos:exactMatch UMLS:C0265407 semapv:UnspecifiedMatching MONDO:0015439 ring chromosome 4 skos:exactMatch mesh:C537636 semapv:UnspecifiedMatching MONDO:0015440 ring chromosome 6 skos:exactMatch MEDGEN:167069 semapv:UnspecifiedMatching MONDO:0015440 ring chromosome 6 skos:exactMatch NCIT:C121985 ROSE Cluster 6 semapv:UnspecifiedMatching MONDO:0015440 ring chromosome 6 skos:exactMatch Orphanet:1448 Ring chromosome 6 syndrome semapv:UnspecifiedMatching MONDO:0015440 ring chromosome 6 skos:exactMatch SCTID:765488003 semapv:UnspecifiedMatching MONDO:0015440 ring chromosome 6 skos:exactMatch UMLS:C0795814 semapv:UnspecifiedMatching MONDO:0015440 ring chromosome 6 skos:exactMatch mesh:C537763 semapv:UnspecifiedMatching MONDO:0015441 ring chromosome 7 skos:exactMatch MEDGEN:419454 semapv:UnspecifiedMatching MONDO:0015441 ring chromosome 7 skos:exactMatch NCIT:C121986 ROSE Cluster 7 semapv:UnspecifiedMatching MONDO:0015441 ring chromosome 7 skos:exactMatch Orphanet:1449 Ring chromosome 7 syndrome semapv:UnspecifiedMatching MONDO:0015441 ring chromosome 7 skos:exactMatch SCTID:765489006 semapv:UnspecifiedMatching MONDO:0015441 ring chromosome 7 skos:exactMatch UMLS:C2931622 semapv:UnspecifiedMatching MONDO:0015441 ring chromosome 7 skos:exactMatch mesh:C537813 semapv:UnspecifiedMatching MONDO:0015443 chromosome 8-derived supernumerary ring/marker skos:exactMatch MEDGEN:895673 semapv:UnspecifiedMatching MONDO:0015443 chromosome 8-derived supernumerary ring/marker skos:exactMatch NCIT:C121988 ROSE Cluster 8 semapv:UnspecifiedMatching MONDO:0015443 chromosome 8-derived supernumerary ring/marker skos:exactMatch Orphanet:1450 Ring chromosome 8 syndrome semapv:UnspecifiedMatching MONDO:0015443 chromosome 8-derived supernumerary ring/marker skos:exactMatch SCTID:715983001 semapv:UnspecifiedMatching MONDO:0015443 chromosome 8-derived supernumerary ring/marker skos:exactMatch UMLS:C4274902 semapv:UnspecifiedMatching MONDO:0015443 chromosome 8-derived supernumerary ring/marker skos:exactMatch mesh:C537824 semapv:UnspecifiedMatching MONDO:0015445 autosomal dominant coarctation of aorta skos:exactMatch MEDGEN:443900 semapv:UnspecifiedMatching MONDO:0015445 autosomal dominant coarctation of aorta skos:exactMatch UMLS:C2930803 semapv:UnspecifiedMatching MONDO:0015446 atypical coarctation of aorta skos:exactMatch MEDGEN:758831 semapv:UnspecifiedMatching MONDO:0015446 atypical coarctation of aorta skos:exactMatch Orphanet:1456 Middle aortic syndrome semapv:UnspecifiedMatching MONDO:0015446 atypical coarctation of aorta skos:exactMatch SCTID:471268000 semapv:UnspecifiedMatching MONDO:0015446 atypical coarctation of aorta skos:exactMatch UMLS:C3496579 semapv:UnspecifiedMatching MONDO:0015446 atypical coarctation of aorta skos:exactMatch icd11.foundation:480830042 Descending thoracic or abdominal aortic coarctation semapv:UnspecifiedMatching MONDO:0015447 differentiated thyroid carcinoma skos:exactMatch DOID:0080525 differentiated high-grade thyroid carcinoma semapv:UnspecifiedMatching MONDO:0015447 differentiated thyroid carcinoma skos:exactMatch EFO:1002017 semapv:UnspecifiedMatching MONDO:0015447 differentiated thyroid carcinoma skos:exactMatch MEDGEN:277876 semapv:UnspecifiedMatching MONDO:0015447 differentiated thyroid carcinoma skos:exactMatch NCIT:C7153 Differentiated Thyroid Gland Carcinoma semapv:UnspecifiedMatching MONDO:0015447 differentiated thyroid carcinoma skos:exactMatch Orphanet:146 Differentiated thyroid carcinoma semapv:UnspecifiedMatching MONDO:0015447 differentiated thyroid carcinoma skos:exactMatch UMLS:C1337013 semapv:UnspecifiedMatching MONDO:0015448 mitochondrial complex III deficiency skos:exactMatch DOID:0111139 mitochondrial complex III deficiency semapv:UnspecifiedMatching MONDO:0015448 mitochondrial complex III deficiency skos:exactMatch MEDGEN:377658 semapv:UnspecifiedMatching MONDO:0015448 mitochondrial complex III deficiency skos:exactMatch Orphanet:1460 Isolated complex III deficiency semapv:UnspecifiedMatching MONDO:0015448 mitochondrial complex III deficiency skos:exactMatch UMLS:C1852372 semapv:UnspecifiedMatching MONDO:0015449 criss-cross heart skos:exactMatch MEDGEN:8181 semapv:UnspecifiedMatching MONDO:0015449 criss-cross heart skos:exactMatch Orphanet:1461 Criss-cross heart semapv:UnspecifiedMatching MONDO:0015449 criss-cross heart skos:exactMatch SCTID:253269002 semapv:UnspecifiedMatching MONDO:0015449 criss-cross heart skos:exactMatch UMLS:C0010334 semapv:UnspecifiedMatching MONDO:0015449 criss-cross heart skos:exactMatch icd11.foundation:856695997 Crisscross heart semapv:UnspecifiedMatching MONDO:0015449 criss-cross heart skos:exactMatch mesh:D003420 semapv:UnspecifiedMatching MONDO:0015450 triatrial heart skos:exactMatch ICD10CM:Q24.2 Cor triatriatum semapv:UnspecifiedMatching MONDO:0015450 triatrial heart skos:exactMatch MEDGEN:3238 semapv:UnspecifiedMatching MONDO:0015450 triatrial heart skos:exactMatch NCIT:C84651 Cor Triatriatum semapv:UnspecifiedMatching MONDO:0015450 triatrial heart skos:exactMatch Orphanet:1463 Triatrial heart semapv:UnspecifiedMatching MONDO:0015450 triatrial heart skos:exactMatch SCTID:55510008 semapv:UnspecifiedMatching MONDO:0015450 triatrial heart skos:exactMatch UMLS:C0009995 semapv:UnspecifiedMatching MONDO:0015451 univentricular heart skos:exactMatch MEDGEN:488862 semapv:UnspecifiedMatching MONDO:0015451 univentricular heart skos:exactMatch Orphanet:1464 Univentricular heart semapv:UnspecifiedMatching MONDO:0015451 univentricular heart skos:exactMatch SCTID:253283000 semapv:UnspecifiedMatching MONDO:0015451 univentricular heart skos:exactMatch UMLS:C0344622 semapv:UnspecifiedMatching MONDO:0015451 univentricular heart skos:exactMatch icd11.foundation:1786413029 Double inlet atrioventricular connection semapv:UnspecifiedMatching MONDO:0015451 univentricular heart skos:exactMatch mesh:D000080039 semapv:UnspecifiedMatching MONDO:0015452 Coffin-Siris syndrome skos:exactMatch DOID:1925 Coffin-Siris syndrome semapv:UnspecifiedMatching MONDO:0015452 Coffin-Siris syndrome skos:exactMatch MEDGEN:75565 semapv:UnspecifiedMatching MONDO:0015452 Coffin-Siris syndrome skos:exactMatch NCIT:C35321 Coffin-Siris Syndrome semapv:UnspecifiedMatching MONDO:0015452 Coffin-Siris syndrome skos:exactMatch OMIMPS:135900 Coffin-Siris syndrome semapv:UnspecifiedMatching MONDO:0015452 Coffin-Siris syndrome skos:exactMatch Orphanet:1465 Coffin-Siris syndrome semapv:UnspecifiedMatching MONDO:0015452 Coffin-Siris syndrome skos:exactMatch SCTID:10007009 semapv:UnspecifiedMatching MONDO:0015452 Coffin-Siris syndrome skos:exactMatch UMLS:C0265338 semapv:UnspecifiedMatching MONDO:0015452 Coffin-Siris syndrome skos:exactMatch icd11.foundation:734451870 Coffin-Siris syndrome semapv:UnspecifiedMatching MONDO:0015452 Coffin-Siris syndrome skos:exactMatch mesh:C536436 semapv:UnspecifiedMatching MONDO:0015453 Cogan syndrome skos:exactMatch DOID:0060216 Cogan syndrome semapv:UnspecifiedMatching MONDO:0015453 Cogan syndrome skos:exactMatch MEDGEN:82871 semapv:UnspecifiedMatching MONDO:0015453 Cogan syndrome skos:exactMatch Orphanet:1467 Cogan syndrome semapv:UnspecifiedMatching MONDO:0015453 Cogan syndrome skos:exactMatch SCTID:405810005 semapv:UnspecifiedMatching MONDO:0015453 Cogan syndrome skos:exactMatch UMLS:C0271270 semapv:UnspecifiedMatching MONDO:0015453 Cogan syndrome skos:exactMatch icd11.foundation:2098089327 Cogan syndrome semapv:UnspecifiedMatching MONDO:0015453 Cogan syndrome skos:exactMatch mesh:D055952 semapv:UnspecifiedMatching MONDO:0015454 multiple carboxylase deficiency skos:exactMatch DOID:857 multiple carboxylase deficiency semapv:UnspecifiedMatching MONDO:0015454 multiple carboxylase deficiency skos:exactMatch ICD10CM:D81.81 Biotin-dependent carboxylase deficiency semapv:UnspecifiedMatching MONDO:0015454 multiple carboxylase deficiency skos:exactMatch ICD10CM:D81.819 Biotin-dependent carboxylase deficiency, unspecified semapv:UnspecifiedMatching MONDO:0015454 multiple carboxylase deficiency skos:exactMatch MEDGEN:10119 semapv:UnspecifiedMatching MONDO:0015454 multiple carboxylase deficiency skos:exactMatch Orphanet:148 Multiple carboxylase deficiency semapv:UnspecifiedMatching MONDO:0015454 multiple carboxylase deficiency skos:exactMatch UMLS:C0026755 semapv:UnspecifiedMatching MONDO:0015454 multiple carboxylase deficiency skos:exactMatch icd11.foundation:1133091451 Multiple carboxylase deficiency semapv:UnspecifiedMatching MONDO:0015454 multiple carboxylase deficiency skos:exactMatch mesh:D009100 semapv:UnspecifiedMatching MONDO:0015455 gonococcal conjunctivitis skos:exactMatch ICD10CM:A54.31 Gonococcal conjunctivitis semapv:UnspecifiedMatching MONDO:0015455 gonococcal conjunctivitis skos:exactMatch MEDGEN:1830271 semapv:UnspecifiedMatching MONDO:0015455 gonococcal conjunctivitis skos:exactMatch NCIT:C116816 Gonococcal Ophthalmia Neonatorum semapv:UnspecifiedMatching MONDO:0015455 gonococcal conjunctivitis skos:exactMatch Orphanet:1482 Gonococcal conjunctivitis semapv:UnspecifiedMatching MONDO:0015455 gonococcal conjunctivitis skos:exactMatch SCTID:231858009 semapv:UnspecifiedMatching MONDO:0015455 gonococcal conjunctivitis skos:exactMatch UMLS:C5779547 semapv:UnspecifiedMatching MONDO:0015455 gonococcal conjunctivitis skos:exactMatch icd11.foundation:884042621 Gonococcal conjunctivitis semapv:UnspecifiedMatching MONDO:0015457 corpus callosum agenesis-double urinary collecting system syndrome skos:exactMatch MEDGEN:419659 semapv:UnspecifiedMatching MONDO:0015457 corpus callosum agenesis-double urinary collecting system syndrome skos:exactMatch UMLS:C2930897 semapv:UnspecifiedMatching MONDO:0015457 corpus callosum agenesis-double urinary collecting system syndrome skos:exactMatch mesh:C535427 semapv:UnspecifiedMatching MONDO:0015458 intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome skos:exactMatch MEDGEN:928199 semapv:UnspecifiedMatching MONDO:0015458 intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome skos:exactMatch Orphanet:1495 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome semapv:UnspecifiedMatching MONDO:0015458 intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome skos:exactMatch SCTID:722455002 semapv:UnspecifiedMatching MONDO:0015458 intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome skos:exactMatch UMLS:C4302530 semapv:UnspecifiedMatching MONDO:0015459 nasopharyngeal carcinoma skos:exactMatch DOID:9261 nasopharynx carcinoma semapv:UnspecifiedMatching MONDO:0015459 nasopharyngeal carcinoma skos:exactMatch MEDGEN:419909 semapv:UnspecifiedMatching MONDO:0015459 nasopharyngeal carcinoma skos:exactMatch NCIT:C3871 Nasopharyngeal Carcinoma semapv:UnspecifiedMatching MONDO:0015459 nasopharyngeal carcinoma skos:exactMatch Orphanet:150 Nasopharyngeal carcinoma semapv:UnspecifiedMatching MONDO:0015459 nasopharyngeal carcinoma skos:exactMatch SCTID:363398003 semapv:UnspecifiedMatching MONDO:0015459 nasopharyngeal carcinoma skos:exactMatch UMLS:C2931822 semapv:UnspecifiedMatching MONDO:0015459 nasopharyngeal carcinoma skos:exactMatch icd11.foundation:1883313543 Nasopharyngeal carcinoma semapv:UnspecifiedMatching MONDO:0015459 nasopharyngeal carcinoma skos:exactMatch mesh:D00007727 semapv:UnspecifiedMatching MONDO:0015459 nasopharyngeal carcinoma skos:exactMatch mesh:D000077274 semapv:UnspecifiedMatching MONDO:0015461 short rib-polydactyly syndrome skos:exactMatch MEDGEN:11412 semapv:UnspecifiedMatching MONDO:0015461 short rib-polydactyly syndrome skos:exactMatch NCIT:C85065 Short Rib-Polydactyly Syndrome semapv:UnspecifiedMatching MONDO:0015461 short rib-polydactyly syndrome skos:exactMatch Orphanet:1505 Short rib-polydactyly syndrome semapv:UnspecifiedMatching MONDO:0015461 short rib-polydactyly syndrome skos:exactMatch SCTID:205484001 semapv:UnspecifiedMatching MONDO:0015461 short rib-polydactyly syndrome skos:exactMatch UMLS:C0036996 semapv:UnspecifiedMatching MONDO:0015461 short rib-polydactyly syndrome skos:exactMatch icd11.foundation:960900212 Short rib-polydactyly syndrome semapv:UnspecifiedMatching MONDO:0015461 short rib-polydactyly syndrome skos:exactMatch mesh:D012779 semapv:UnspecifiedMatching MONDO:0015462 thin ribs-tubular bones-dysmorphism syndrome skos:exactMatch MEDGEN:419105 semapv:UnspecifiedMatching MONDO:0015462 thin ribs-tubular bones-dysmorphism syndrome skos:exactMatch Orphanet:1506 Thin ribs-tubular bones-dysmorphism syndrome semapv:UnspecifiedMatching MONDO:0015462 thin ribs-tubular bones-dysmorphism syndrome skos:exactMatch UMLS:C2931543 semapv:UnspecifiedMatching MONDO:0015462 thin ribs-tubular bones-dysmorphism syndrome skos:exactMatch mesh:C537595 semapv:UnspecifiedMatching MONDO:0015463 craniodigital syndrome-intellectual disability syndrome skos:exactMatch MEDGEN:333293 semapv:UnspecifiedMatching MONDO:0015463 craniodigital syndrome-intellectual disability syndrome skos:exactMatch Orphanet:1514 Craniodigital-intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0015463 craniodigital syndrome-intellectual disability syndrome skos:exactMatch SCTID:763665007 semapv:UnspecifiedMatching MONDO:0015463 craniodigital syndrome-intellectual disability syndrome skos:exactMatch UMLS:C1839311 semapv:UnspecifiedMatching MONDO:0015463 craniodigital syndrome-intellectual disability syndrome skos:exactMatch mesh:C537528 semapv:UnspecifiedMatching MONDO:0015464 craniofrontonasal dysplasia-Poland anomaly syndrome skos:exactMatch MEDGEN:929528 semapv:UnspecifiedMatching MONDO:0015464 craniofrontonasal dysplasia-Poland anomaly syndrome skos:exactMatch Orphanet:1521 Craniofrontonasal dysplasia-Poland anomaly syndrome semapv:UnspecifiedMatching MONDO:0015464 craniofrontonasal dysplasia-Poland anomaly syndrome skos:exactMatch SCTID:720757001 semapv:UnspecifiedMatching MONDO:0015464 craniofrontonasal dysplasia-Poland anomaly syndrome skos:exactMatch UMLS:C4303859 semapv:UnspecifiedMatching MONDO:0015465 craniometaphyseal dysplasia skos:exactMatch DOID:0080033 craniometaphyseal dysplasia semapv:UnspecifiedMatching MONDO:0015465 craniometaphyseal dysplasia skos:exactMatch MEDGEN:82702 semapv:UnspecifiedMatching MONDO:0015465 craniometaphyseal dysplasia skos:exactMatch OMIMPS:123000 Craniometaphyseal dysplasia semapv:UnspecifiedMatching MONDO:0015465 craniometaphyseal dysplasia skos:exactMatch Orphanet:1522 Craniometaphyseal dysplasia semapv:UnspecifiedMatching MONDO:0015465 craniometaphyseal dysplasia skos:exactMatch SCTID:36601008 semapv:UnspecifiedMatching MONDO:0015465 craniometaphyseal dysplasia skos:exactMatch UMLS:C0265292 semapv:UnspecifiedMatching MONDO:0015465 craniometaphyseal dysplasia skos:exactMatch icd11.foundation:305860050 Craniometaphyseal dysplasia semapv:UnspecifiedMatching MONDO:0015466 cranio-osteoarthropathy skos:exactMatch MEDGEN:394824 semapv:UnspecifiedMatching MONDO:0015466 cranio-osteoarthropathy skos:exactMatch Orphanet:1525 Cranio-osteoarthropathy semapv:UnspecifiedMatching MONDO:0015466 cranio-osteoarthropathy skos:exactMatch SCTID:720753002 semapv:UnspecifiedMatching MONDO:0015466 cranio-osteoarthropathy skos:exactMatch UMLS:C2678439 semapv:UnspecifiedMatching MONDO:0015466 cranio-osteoarthropathy skos:exactMatch icd11.foundation:225223076 Cranio-osteoarthropathy semapv:UnspecifiedMatching MONDO:0015467 craniosynostosis, Philadelphia type skos:exactMatch MEDGEN:321988 semapv:UnspecifiedMatching MONDO:0015467 craniosynostosis, Philadelphia type skos:exactMatch Orphanet:1527 Craniosynostosis, Philadelphia type semapv:UnspecifiedMatching MONDO:0015467 craniosynostosis, Philadelphia type skos:exactMatch SCTID:720818003 semapv:UnspecifiedMatching MONDO:0015467 craniosynostosis, Philadelphia type skos:exactMatch UMLS:C1832590 semapv:UnspecifiedMatching MONDO:0015467 craniosynostosis, Philadelphia type skos:exactMatch icd11.foundation:234032200 Craniosynostosis, Philadelphia type semapv:UnspecifiedMatching MONDO:0015467 craniosynostosis, Philadelphia type skos:exactMatch mesh:C563368 semapv:UnspecifiedMatching MONDO:0015469 craniosynostosis skos:exactMatch DOID:2340 craniosynostosis semapv:UnspecifiedMatching MONDO:0015469 craniosynostosis skos:exactMatch ICD10CM:Q75.0 Craniosynostosis semapv:UnspecifiedMatching MONDO:0015469 craniosynostosis skos:exactMatch MEDGEN:1163 semapv:UnspecifiedMatching MONDO:0015469 craniosynostosis skos:exactMatch NCIT:C84655 Craniosynostosis semapv:UnspecifiedMatching MONDO:0015469 craniosynostosis skos:exactMatch OMIMPS:123100 Craniosynostosis semapv:UnspecifiedMatching MONDO:0015469 craniosynostosis skos:exactMatch Orphanet:1531 Craniosynostosis semapv:UnspecifiedMatching MONDO:0015469 craniosynostosis skos:exactMatch UMLS:C0010278 semapv:UnspecifiedMatching MONDO:0015469 craniosynostosis skos:exactMatch icd11.foundation:458033798 Craniosynostosis semapv:UnspecifiedMatching MONDO:0015469 craniosynostosis skos:exactMatch mesh:D003398 semapv:UnspecifiedMatching MONDO:0015471 benign focal seizures of adolescence skos:exactMatch MEDGEN:896830 semapv:UnspecifiedMatching MONDO:0015471 benign focal seizures of adolescence skos:exactMatch Orphanet:1544 Benign focal seizures of adolescence semapv:UnspecifiedMatching MONDO:0015471 benign focal seizures of adolescence skos:exactMatch SCTID:715425000 semapv:UnspecifiedMatching MONDO:0015471 benign focal seizures of adolescence skos:exactMatch UMLS:C4275141 semapv:UnspecifiedMatching MONDO:0015471 benign focal seizures of adolescence skos:exactMatch icd11.foundation:1800285392 Benign focal seizures of adolescence semapv:UnspecifiedMatching MONDO:0015473 cryptorchidism-arachnodactyly-intellectual disability syndrome skos:exactMatch MEDGEN:1647147 semapv:UnspecifiedMatching MONDO:0015473 cryptorchidism-arachnodactyly-intellectual disability syndrome skos:exactMatch Orphanet:1548 Cryptorchidism-arachnodactyly-intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0015473 cryptorchidism-arachnodactyly-intellectual disability syndrome skos:exactMatch UMLS:C4707233 semapv:UnspecifiedMatching MONDO:0015474 cryptosporidiosis skos:exactMatch DOID:1733 cryptosporidiosis semapv:UnspecifiedMatching MONDO:0015474 cryptosporidiosis skos:exactMatch ICD10CM:A07.2 Cryptosporidiosis semapv:UnspecifiedMatching MONDO:0015474 cryptosporidiosis skos:exactMatch MEDGEN:41362 semapv:UnspecifiedMatching MONDO:0015474 cryptosporidiosis skos:exactMatch NCIT:C128408 Cryptosporidiosis semapv:UnspecifiedMatching MONDO:0015474 cryptosporidiosis skos:exactMatch Orphanet:697096 Cryptosporidiosis semapv:UnspecifiedMatching MONDO:0015474 cryptosporidiosis skos:exactMatch SCTID:66160001 semapv:UnspecifiedMatching MONDO:0015474 cryptosporidiosis skos:exactMatch UMLS:C0010418 semapv:UnspecifiedMatching MONDO:0015474 cryptosporidiosis skos:exactMatch icd11.foundation:1837013982 Cryptosporidiosis semapv:UnspecifiedMatching MONDO:0015474 cryptosporidiosis skos:exactMatch mesh:D003457 semapv:UnspecifiedMatching MONDO:0015475 obsolete rare head and neck malformation skos:exactMatch Orphanet:155832 Rare head and neck malformation semapv:UnspecifiedMatching MONDO:0015476 cysts and fistulae of the face and oral cavity skos:exactMatch MEDGEN:1843131 semapv:UnspecifiedMatching MONDO:0015476 cysts and fistulae of the face and oral cavity skos:exactMatch Orphanet:155835 Cysts and fistulae of the face and oral cavity semapv:UnspecifiedMatching MONDO:0015476 cysts and fistulae of the face and oral cavity skos:exactMatch UMLS:C5680632 semapv:UnspecifiedMatching MONDO:0015477 pinnae fistula or cyst skos:exactMatch MEDGEN:1842452 semapv:UnspecifiedMatching MONDO:0015477 pinnae fistula or cyst skos:exactMatch Orphanet:155838 Pinnae fistula or cyst semapv:UnspecifiedMatching MONDO:0015477 pinnae fistula or cyst skos:exactMatch UMLS:C5680633 semapv:UnspecifiedMatching MONDO:0015478 obsolete paramedian facial cleft skos:exactMatch Orphanet:155867 Paramedian facial cleft semapv:UnspecifiedMatching MONDO:0015479 submucosal cleft palate skos:exactMatch MEDGEN:98472 semapv:UnspecifiedMatching MONDO:0015479 submucosal cleft palate skos:exactMatch Orphanet:155878 Submucosal cleft palate semapv:UnspecifiedMatching MONDO:0015479 submucosal cleft palate skos:exactMatch UMLS:C0432103 semapv:UnspecifiedMatching MONDO:0015479 submucosal cleft palate skos:exactMatch icd11.foundation:1848627578 Submucosal cleft palate semapv:UnspecifiedMatching MONDO:0015480 coloboma of superior eyelid skos:exactMatch MEDGEN:350283 semapv:UnspecifiedMatching MONDO:0015480 coloboma of superior eyelid skos:exactMatch Orphanet:155884 Coloboma of superior eyelid semapv:UnspecifiedMatching MONDO:0015480 coloboma of superior eyelid skos:exactMatch SCTID:763132003 semapv:UnspecifiedMatching MONDO:0015480 coloboma of superior eyelid skos:exactMatch UMLS:C1863872 semapv:UnspecifiedMatching MONDO:0015481 coloboma of inferior eyelid skos:exactMatch MEDGEN:373417 semapv:UnspecifiedMatching MONDO:0015481 coloboma of inferior eyelid skos:exactMatch Orphanet:155889 Coloboma of inferior eyelid semapv:UnspecifiedMatching MONDO:0015481 coloboma of inferior eyelid skos:exactMatch SCTID:763133008 semapv:UnspecifiedMatching MONDO:0015481 coloboma of inferior eyelid skos:exactMatch UMLS:C1837826 semapv:UnspecifiedMatching MONDO:0015482 obsolete otomandibular dysplasia skos:exactMatch Orphanet:155896 Otomandibular dysplasia semapv:UnspecifiedMatching MONDO:0015482 obsolete otomandibular dysplasia skos:exactMatch icd11.foundation:424177015 Otomandibular dysplasia semapv:UnspecifiedMatching MONDO:0015483 mandibulofacial dysostosis skos:exactMatch ICD10CM:Q75.4 Mandibulofacial dysostosis semapv:UnspecifiedMatching MONDO:0015483 mandibulofacial dysostosis skos:exactMatch Orphanet:155899 Mandibulofacial dysostosis semapv:UnspecifiedMatching MONDO:0015483 mandibulofacial dysostosis skos:exactMatch icd11.foundation:470731247 Mandibulofacial dysostosis semapv:UnspecifiedMatching MONDO:0015483 mandibulofacial dysostosis skos:exactMatch mesh:D008342 semapv:UnspecifiedMatching MONDO:0015484 cysticercosis skos:exactMatch DOID:10079 cysticercosis semapv:UnspecifiedMatching MONDO:0015484 cysticercosis skos:exactMatch EFO:0007231 semapv:UnspecifiedMatching MONDO:0015484 cysticercosis skos:exactMatch ICD10CM:B69 Cysticercosis semapv:UnspecifiedMatching MONDO:0015484 cysticercosis skos:exactMatch ICD10WHO:B69 Cysticercosis semapv:UnspecifiedMatching MONDO:0015484 cysticercosis skos:exactMatch MEDGEN:4122 semapv:UnspecifiedMatching MONDO:0015484 cysticercosis skos:exactMatch NCIT:C34520 Cysticercosis semapv:UnspecifiedMatching MONDO:0015484 cysticercosis skos:exactMatch Orphanet:1560 Cysticercosis semapv:UnspecifiedMatching MONDO:0015484 cysticercosis skos:exactMatch SCTID:59051007 semapv:UnspecifiedMatching MONDO:0015484 cysticercosis skos:exactMatch UMLS:C0010678 semapv:UnspecifiedMatching MONDO:0015484 cysticercosis skos:exactMatch icd11.foundation:1324863907 Cysticercosis semapv:UnspecifiedMatching MONDO:0015484 cysticercosis skos:exactMatch mesh:D003551 semapv:UnspecifiedMatching MONDO:0015485 obsolete primary hereditary glaucoma skos:exactMatch Orphanet:156005 Primary early-onset glaucoma semapv:UnspecifiedMatching MONDO:0015486 keratoconus skos:exactMatch DOID:10126 keratoconus semapv:UnspecifiedMatching MONDO:0015486 keratoconus skos:exactMatch ICD10CM:H18.6 Keratoconus semapv:UnspecifiedMatching MONDO:0015486 keratoconus skos:exactMatch MEDGEN:44015 semapv:UnspecifiedMatching MONDO:0015486 keratoconus skos:exactMatch NCIT:C26806 Keratoconus semapv:UnspecifiedMatching MONDO:0015486 keratoconus skos:exactMatch OMIMPS:148300 Keratoconus semapv:UnspecifiedMatching MONDO:0015486 keratoconus skos:exactMatch SCTID:65636009 semapv:UnspecifiedMatching MONDO:0015486 keratoconus skos:exactMatch UMLS:C0022578 semapv:UnspecifiedMatching MONDO:0015486 keratoconus skos:exactMatch icd11.foundation:945228622 Keratoconus semapv:UnspecifiedMatching MONDO:0015486 keratoconus skos:exactMatch mesh:D007640 semapv:UnspecifiedMatching MONDO:0015487 fatal infantile encephalocardiomyopathy skos:exactMatch DOID:0050713 COX deficiency, infantile mitochondrial myopathy semapv:UnspecifiedMatching MONDO:0015487 fatal infantile encephalocardiomyopathy skos:exactMatch MEDGEN:903874 semapv:UnspecifiedMatching MONDO:0015487 fatal infantile encephalocardiomyopathy skos:exactMatch Orphanet:1561 Fatal infantile cytochrome C oxidase deficiency semapv:UnspecifiedMatching MONDO:0015487 fatal infantile encephalocardiomyopathy skos:exactMatch SCTID:718124006 semapv:UnspecifiedMatching MONDO:0015487 fatal infantile encephalocardiomyopathy skos:exactMatch UMLS:C4273730 semapv:UnspecifiedMatching MONDO:0015488 obsolete predominantly large-vessel vasculitis skos:exactMatch Orphanet:156140 Predominantly large-vessel vasculitis semapv:UnspecifiedMatching MONDO:0015489 obsolete predominantly medium-vessel vasculitis skos:exactMatch Orphanet:156143 Predominantly medium-vessel vasculitis semapv:UnspecifiedMatching MONDO:0015490 obsolete predominantly small-vessel vasculitis skos:exactMatch Orphanet:156146 Predominantly small-vessel vasculitis semapv:UnspecifiedMatching MONDO:0015491 immune complex mediated vasculitis skos:exactMatch MEDGEN:1842565 semapv:UnspecifiedMatching MONDO:0015491 immune complex mediated vasculitis skos:exactMatch Orphanet:156149 Immune complex mediated vasculitis semapv:UnspecifiedMatching MONDO:0015491 immune complex mediated vasculitis skos:exactMatch UMLS:C5680655 semapv:UnspecifiedMatching MONDO:0015492 anti-neutrophil cytoplasmic antibody-associated vasculitis skos:exactMatch MEDGEN:403453 semapv:UnspecifiedMatching MONDO:0015492 anti-neutrophil cytoplasmic antibody-associated vasculitis skos:exactMatch Orphanet:156152 Anti-neutrophil cytoplasmic antibody-associated vasculitis semapv:UnspecifiedMatching MONDO:0015492 anti-neutrophil cytoplasmic antibody-associated vasculitis skos:exactMatch UMLS:C2717865 semapv:UnspecifiedMatching MONDO:0015492 anti-neutrophil cytoplasmic antibody-associated vasculitis skos:exactMatch icd11.foundation:1404622826 Antineutrophil cytoplasmic antibody-associated vasculitis semapv:UnspecifiedMatching MONDO:0015492 anti-neutrophil cytoplasmic antibody-associated vasculitis skos:exactMatch mesh:D056648 semapv:UnspecifiedMatching MONDO:0015494 isolated dystonia skos:exactMatch MEDGEN:1842310 semapv:UnspecifiedMatching MONDO:0015494 isolated dystonia skos:exactMatch Orphanet:156159 Isolated dystonia semapv:UnspecifiedMatching MONDO:0015494 isolated dystonia skos:exactMatch UMLS:C5679608 semapv:UnspecifiedMatching MONDO:0015495 obsolete otomandibular dysplasia associated with monogenic syndromes skos:exactMatch Orphanet:156202 Otomandibular dysplasia associated with monogenic syndromes semapv:UnspecifiedMatching MONDO:0015496 macroglossia skos:exactMatch MEDGEN:44236 semapv:UnspecifiedMatching MONDO:0015496 macroglossia skos:exactMatch Orphanet:156207 Macroglossia semapv:UnspecifiedMatching MONDO:0015496 macroglossia skos:exactMatch UMLS:C0024421 semapv:UnspecifiedMatching MONDO:0015496 macroglossia skos:exactMatch icd11.foundation:670519908 Macroglossia semapv:UnspecifiedMatching MONDO:0015496 macroglossia skos:exactMatch mesh:D008260 semapv:UnspecifiedMatching MONDO:0015497 obsolete hypoglossia/aglossia skos:exactMatch Orphanet:156212 Hypoglossia/aglossia semapv:UnspecifiedMatching MONDO:0015497 obsolete hypoglossia/aglossia skos:exactMatch icd11.foundation:2087939516 Hypoglossia or aglossia semapv:UnspecifiedMatching MONDO:0015498 oromandibular-limb anomalies syndrome skos:exactMatch MEDGEN:1842880 semapv:UnspecifiedMatching MONDO:0015498 oromandibular-limb anomalies syndrome skos:exactMatch Orphanet:156215 Oromandibular-limb anomalies syndrome semapv:UnspecifiedMatching MONDO:0015498 oromandibular-limb anomalies syndrome skos:exactMatch UMLS:C5680663 semapv:UnspecifiedMatching MONDO:0015498 oromandibular-limb anomalies syndrome skos:exactMatch icd11.foundation:1868700139 Oromandibular-limb anomaly syndrome semapv:UnspecifiedMatching MONDO:0015499 obsolete paralytic facial malformation skos:exactMatch Orphanet:156224 Paralytic facial malformation semapv:UnspecifiedMatching MONDO:0015500 facial arteriovenous malformation skos:exactMatch MEDGEN:1842762 semapv:UnspecifiedMatching MONDO:0015500 facial arteriovenous malformation skos:exactMatch Orphanet:156230 Facial arteriovenous malformation semapv:UnspecifiedMatching MONDO:0015500 facial arteriovenous malformation skos:exactMatch UMLS:C5680665 semapv:UnspecifiedMatching MONDO:0015500 facial arteriovenous malformation skos:exactMatch icd11.foundation:926860967 Facial arteriovenous malformation semapv:UnspecifiedMatching MONDO:0015501 obsolete syndrome or malformation associated with head and neck malformations skos:exactMatch Orphanet:156237 Syndrome or malformation associated with head and neck malformations semapv:UnspecifiedMatching MONDO:0015502 obsolete pinnae and external auditory canal anomaly skos:exactMatch Orphanet:156243 Pinnae and external auditory canal anomaly semapv:UnspecifiedMatching MONDO:0015503 obsolete nose and cavum anomaly skos:exactMatch Orphanet:156246 Nose and cavum anomaly semapv:UnspecifiedMatching MONDO:0015503 obsolete nose and cavum anomaly skos:exactMatch icd11.foundation:484839707 Structural developmental anomalies of the nose or cavum semapv:UnspecifiedMatching MONDO:0015504 obsolete larynx anomaly skos:exactMatch Orphanet:156249 Larynx anomaly semapv:UnspecifiedMatching MONDO:0015504 obsolete larynx anomaly skos:exactMatch icd11.foundation:2041437327 Structural developmental anomalies of larynx semapv:UnspecifiedMatching MONDO:0015505 obsolete tracheal anomaly skos:exactMatch Orphanet:156252 Tracheal anomaly semapv:UnspecifiedMatching MONDO:0015505 obsolete tracheal anomaly skos:exactMatch icd11.foundation:679333287 Structural developmental anomalies of trachea semapv:UnspecifiedMatching MONDO:0015506 obsolete rare syndrome with cardiac malformations skos:exactMatch Orphanet:156532 Rare syndrome with cardiac malformations semapv:UnspecifiedMatching MONDO:0015507 obsolete rare genetic hepatic disease skos:exactMatch Orphanet:156601 Rare genetic hepatic disease semapv:UnspecifiedMatching MONDO:0015508 obsolete hereditary parenchymatous liver disease skos:exactMatch Orphanet:156604 Genetic parenchymatous liver disease semapv:UnspecifiedMatching MONDO:0015509 obsolete hereditary biliary tract disease skos:exactMatch Orphanet:156607 Genetic biliary tract disease semapv:UnspecifiedMatching MONDO:0015510 obsolete rare genetic respiratory disease skos:exactMatch Orphanet:156610 Rare genetic respiratory disease semapv:UnspecifiedMatching MONDO:0015511 obsolete rare genetic urogenital disease skos:exactMatch Orphanet:156619 Rare genetic urogenital disease semapv:UnspecifiedMatching MONDO:0015512 obsolete genetic hypertension skos:exactMatch Orphanet:156629 Rare genetic cause of hypertension semapv:UnspecifiedMatching MONDO:0015513 obsolete rare genetic endocrine disease skos:exactMatch Orphanet:156638 Rare genetic endocrine disease semapv:UnspecifiedMatching MONDO:0015514 hereditary endocrine growth disease skos:exactMatch MEDGEN:1842942 semapv:UnspecifiedMatching MONDO:0015514 hereditary endocrine growth disease skos:exactMatch Orphanet:156643 Genetic endocrine growth disease semapv:UnspecifiedMatching MONDO:0015514 hereditary endocrine growth disease skos:exactMatch UMLS:C5680637 semapv:UnspecifiedMatching MONDO:0015514 hereditary endocrine growth disease skos:exactMatch mesh:D006130 semapv:UnspecifiedMatching MONDO:0015515 carnitine palmitoyltransferase II deficiency skos:exactMatch DOID:0060235 carnitine palmitoyltransferase II deficiency semapv:UnspecifiedMatching MONDO:0015515 carnitine palmitoyltransferase II deficiency skos:exactMatch MEDGEN:137978 semapv:UnspecifiedMatching MONDO:0015515 carnitine palmitoyltransferase II deficiency skos:exactMatch NCIT:C114766 Carnitine Palmitoyltransferase II Deficiency semapv:UnspecifiedMatching MONDO:0015515 carnitine palmitoyltransferase II deficiency skos:exactMatch Orphanet:157 Carnitine palmitoyltransferase II deficiency semapv:UnspecifiedMatching MONDO:0015515 carnitine palmitoyltransferase II deficiency skos:exactMatch SCTID:238002005 semapv:UnspecifiedMatching MONDO:0015515 carnitine palmitoyltransferase II deficiency skos:exactMatch UMLS:C0342790 semapv:UnspecifiedMatching MONDO:0015515 carnitine palmitoyltransferase II deficiency skos:exactMatch icd11.foundation:204058632 Carnitine palmitoyltransferase II deficiency semapv:UnspecifiedMatching MONDO:0015515 carnitine palmitoyltransferase II deficiency skos:exactMatch mesh:C535589 semapv:UnspecifiedMatching MONDO:0015516 symbrachydactyly of hands and feet skos:exactMatch MEDGEN:419146 semapv:UnspecifiedMatching MONDO:0015516 symbrachydactyly of hands and feet skos:exactMatch Orphanet:1570 Symbrachydactyly of hands and feet semapv:UnspecifiedMatching MONDO:0015516 symbrachydactyly of hands and feet skos:exactMatch UMLS:C2931719 semapv:UnspecifiedMatching MONDO:0015516 symbrachydactyly of hands and feet skos:exactMatch icd11.foundation:159463685 Symbrachydactyly of hands or feet semapv:UnspecifiedMatching MONDO:0015516 symbrachydactyly of hands and feet skos:exactMatch mesh:C538062 semapv:UnspecifiedMatching MONDO:0015517 common variable immunodeficiency skos:exactMatch DOID:12177 common variable immunodeficiency semapv:UnspecifiedMatching MONDO:0015517 common variable immunodeficiency skos:exactMatch ICD10CM:D83 Common variable immunodeficiency semapv:UnspecifiedMatching MONDO:0015517 common variable immunodeficiency skos:exactMatch ICD10WHO:D83 Common variable immunodeficiency semapv:UnspecifiedMatching MONDO:0015517 common variable immunodeficiency skos:exactMatch MEDGEN:40407 semapv:UnspecifiedMatching MONDO:0015517 common variable immunodeficiency skos:exactMatch NCIT:C26725 Common Variable Immunodeficiency semapv:UnspecifiedMatching MONDO:0015517 common variable immunodeficiency skos:exactMatch OMIMPS:607594 Immunodeficiency, common variable semapv:UnspecifiedMatching MONDO:0015517 common variable immunodeficiency skos:exactMatch SCTID:23238000 semapv:UnspecifiedMatching MONDO:0015517 common variable immunodeficiency skos:exactMatch UMLS:C0009447 semapv:UnspecifiedMatching MONDO:0015517 common variable immunodeficiency skos:exactMatch icd11.foundation:1908371517 Common variable immunodeficiency semapv:UnspecifiedMatching MONDO:0015517 common variable immunodeficiency skos:exactMatch mesh:D017074 semapv:UnspecifiedMatching MONDO:0015518 infantile bilateral striatal necrosis skos:exactMatch MEDGEN:167090 semapv:UnspecifiedMatching MONDO:0015518 infantile bilateral striatal necrosis skos:exactMatch Orphanet:1576 Infantile bilateral striatal necrosis semapv:UnspecifiedMatching MONDO:0015518 infantile bilateral striatal necrosis skos:exactMatch SCTID:718174008 semapv:UnspecifiedMatching MONDO:0015518 infantile bilateral striatal necrosis skos:exactMatch UMLS:C0795996 semapv:UnspecifiedMatching MONDO:0015518 infantile bilateral striatal necrosis skos:exactMatch icd11.foundation:1947032348 Infantile bilateral striatal necrosis semapv:UnspecifiedMatching MONDO:0015519 congenital or early infantile CACH syndrome skos:exactMatch MEDGEN:1842419 semapv:UnspecifiedMatching MONDO:0015519 congenital or early infantile CACH syndrome skos:exactMatch Orphanet:157713 Congenital or early infantile CACH syndrome semapv:UnspecifiedMatching MONDO:0015519 congenital or early infantile CACH syndrome skos:exactMatch UMLS:C5680650 semapv:UnspecifiedMatching MONDO:0015519 congenital or early infantile CACH syndrome skos:exactMatch icd11.foundation:2136523495 Congenital or early infantile CACH syndrome semapv:UnspecifiedMatching MONDO:0015520 late infantile CACH syndrome skos:exactMatch MEDGEN:1826172 semapv:UnspecifiedMatching MONDO:0015520 late infantile CACH syndrome skos:exactMatch Orphanet:157716 Late infantile CACH syndrome semapv:UnspecifiedMatching MONDO:0015520 late infantile CACH syndrome skos:exactMatch UMLS:C5680648 semapv:UnspecifiedMatching MONDO:0015520 late infantile CACH syndrome skos:exactMatch icd11.foundation:1635638032 Late infantile CACH syndrome semapv:UnspecifiedMatching MONDO:0015521 juvenile or adult CACH syndrome skos:exactMatch MEDGEN:1826173 semapv:UnspecifiedMatching MONDO:0015521 juvenile or adult CACH syndrome skos:exactMatch Orphanet:157719 Juvenile or adult CACH syndrome semapv:UnspecifiedMatching MONDO:0015521 juvenile or adult CACH syndrome skos:exactMatch UMLS:C5680649 semapv:UnspecifiedMatching MONDO:0015521 juvenile or adult CACH syndrome skos:exactMatch icd11.foundation:1400114953 Juvenile or adult CACH syndrome semapv:UnspecifiedMatching MONDO:0015523 epithelioid hemangioendothelioma skos:exactMatch DOID:0080190 malignant epithelioid hemangioendothelioma semapv:UnspecifiedMatching MONDO:0015523 epithelioid hemangioendothelioma skos:exactMatch MEDGEN:569676 semapv:UnspecifiedMatching MONDO:0015523 epithelioid hemangioendothelioma skos:exactMatch NCIT:C3800 Epithelioid Hemangioendothelioma semapv:UnspecifiedMatching MONDO:0015523 epithelioid hemangioendothelioma skos:exactMatch Orphanet:157791 Epithelioid hemangioendothelioma semapv:UnspecifiedMatching MONDO:0015523 epithelioid hemangioendothelioma skos:exactMatch SCTID:54124005 semapv:UnspecifiedMatching MONDO:0015523 epithelioid hemangioendothelioma skos:exactMatch UMLS:C0334538 semapv:UnspecifiedMatching MONDO:0015523 epithelioid hemangioendothelioma skos:exactMatch mesh:D018323 semapv:UnspecifiedMatching MONDO:0015524 hyperplastic polyposis syndrome skos:exactMatch MEDGEN:1645454 semapv:UnspecifiedMatching MONDO:0015524 hyperplastic polyposis syndrome skos:exactMatch NCIT:C165469 Colorectal Serrated Polyposis semapv:UnspecifiedMatching MONDO:0015524 hyperplastic polyposis syndrome skos:exactMatch Orphanet:157798 Serrated polyposis syndrome semapv:UnspecifiedMatching MONDO:0015524 hyperplastic polyposis syndrome skos:exactMatch SCTID:763536006 semapv:UnspecifiedMatching MONDO:0015524 hyperplastic polyposis syndrome skos:exactMatch UMLS:C4296896 semapv:UnspecifiedMatching MONDO:0015524 hyperplastic polyposis syndrome skos:exactMatch icd11.foundation:1344352020 Hyperplastic polyposis syndrome semapv:UnspecifiedMatching MONDO:0015525 congenital pseudoarthrosis of the limbs skos:exactMatch MEDGEN:1680202 semapv:UnspecifiedMatching MONDO:0015525 congenital pseudoarthrosis of the limbs skos:exactMatch Orphanet:157808 Isolated pseudoarthrosis of the limbs semapv:UnspecifiedMatching MONDO:0015525 congenital pseudoarthrosis of the limbs skos:exactMatch UMLS:C5190522 semapv:UnspecifiedMatching MONDO:0015525 congenital pseudoarthrosis of the limbs skos:exactMatch mesh:C535762 semapv:UnspecifiedMatching MONDO:0015526 cold-induced sweating syndrome skos:exactMatch DOID:0060294 cold-induced sweating syndrome semapv:UnspecifiedMatching MONDO:0015526 cold-induced sweating syndrome skos:exactMatch MEDGEN:321950 semapv:UnspecifiedMatching MONDO:0015526 cold-induced sweating syndrome skos:exactMatch OMIMPS:272430 Cold-induced sweating syndrome semapv:UnspecifiedMatching MONDO:0015526 cold-induced sweating syndrome skos:exactMatch Orphanet:157820 Cold-induced sweating syndrome semapv:UnspecifiedMatching MONDO:0015526 cold-induced sweating syndrome skos:exactMatch SCTID:702363009 semapv:UnspecifiedMatching MONDO:0015526 cold-induced sweating syndrome skos:exactMatch UMLS:C1832409 semapv:UnspecifiedMatching MONDO:0015526 cold-induced sweating syndrome skos:exactMatch icd11.foundation:1884908195 Cold-induced sweating syndrome semapv:UnspecifiedMatching MONDO:0015528 congenital epulis skos:exactMatch DOID:7280 congenital epulis semapv:UnspecifiedMatching MONDO:0015528 congenital epulis skos:exactMatch DOID:8303 congenital granular cell tumor semapv:UnspecifiedMatching MONDO:0015528 congenital epulis skos:exactMatch MEDGEN:83962 semapv:UnspecifiedMatching MONDO:0015528 congenital epulis skos:exactMatch NCIT:C4675 Congenital Granular Cell Epulis semapv:UnspecifiedMatching MONDO:0015528 congenital epulis skos:exactMatch Orphanet:157826 Congenital epulis semapv:UnspecifiedMatching MONDO:0015528 congenital epulis skos:exactMatch SCTID:360525006 semapv:UnspecifiedMatching MONDO:0015528 congenital epulis skos:exactMatch UMLS:C0376319 semapv:UnspecifiedMatching MONDO:0015528 congenital epulis skos:exactMatch icd11.foundation:1616915738 Congenital epulis semapv:UnspecifiedMatching MONDO:0015528 congenital epulis skos:exactMatch mesh:D005887 semapv:UnspecifiedMatching MONDO:0015529 paroxysmal Hemicrania skos:exactMatch EFO:1001822 semapv:UnspecifiedMatching MONDO:0015529 paroxysmal Hemicrania skos:exactMatch MEDGEN:235603 semapv:UnspecifiedMatching MONDO:0015529 paroxysmal Hemicrania skos:exactMatch Orphanet:157835 Paroxysmal hemicrania semapv:UnspecifiedMatching MONDO:0015529 paroxysmal Hemicrania skos:exactMatch SCTID:443094001 semapv:UnspecifiedMatching MONDO:0015529 paroxysmal Hemicrania skos:exactMatch UMLS:C1399352 semapv:UnspecifiedMatching MONDO:0015529 paroxysmal Hemicrania skos:exactMatch icd11.foundation:959737563 Paroxysmal hemicrania semapv:UnspecifiedMatching MONDO:0015529 paroxysmal Hemicrania skos:exactMatch mesh:D051302 semapv:UnspecifiedMatching MONDO:0015530 trigeminal autonomic cephalalgia skos:exactMatch MEDGEN:327950 semapv:UnspecifiedMatching MONDO:0015530 trigeminal autonomic cephalalgia skos:exactMatch NCIT:C117074 Trigeminal Autonomic Cephalalgia semapv:UnspecifiedMatching MONDO:0015530 trigeminal autonomic cephalalgia skos:exactMatch Orphanet:157843 Trigeminal autonomic cephalalgia semapv:UnspecifiedMatching MONDO:0015530 trigeminal autonomic cephalalgia skos:exactMatch SCTID:449814007 semapv:UnspecifiedMatching MONDO:0015530 trigeminal autonomic cephalalgia skos:exactMatch UMLS:C1565172 semapv:UnspecifiedMatching MONDO:0015530 trigeminal autonomic cephalalgia skos:exactMatch icd11.foundation:607078588 Trigeminal autonomic cephalalgias semapv:UnspecifiedMatching MONDO:0015530 trigeminal autonomic cephalalgia skos:exactMatch mesh:D051303 semapv:UnspecifiedMatching MONDO:0015531 non-Langerhans cell histiocytosis skos:exactMatch DOID:4330 non-Langerhans-cell histiocytosis semapv:UnspecifiedMatching MONDO:0015531 non-Langerhans cell histiocytosis skos:exactMatch MEDGEN:9265 semapv:UnspecifiedMatching MONDO:0015531 non-Langerhans cell histiocytosis skos:exactMatch Orphanet:157987 Non-Langerhans cell histiocytosis semapv:UnspecifiedMatching MONDO:0015531 non-Langerhans cell histiocytosis skos:exactMatch SCTID:127069007 semapv:UnspecifiedMatching MONDO:0015531 non-Langerhans cell histiocytosis skos:exactMatch UMLS:C0019624 semapv:UnspecifiedMatching MONDO:0015531 non-Langerhans cell histiocytosis skos:exactMatch mesh:D015616 semapv:UnspecifiedMatching MONDO:0015532 generalized eruptive histiocytosis skos:exactMatch MEDGEN:578001 semapv:UnspecifiedMatching MONDO:0015532 generalized eruptive histiocytosis skos:exactMatch Orphanet:157991 Generalized eruptive histiocytosis semapv:UnspecifiedMatching MONDO:0015532 generalized eruptive histiocytosis skos:exactMatch SCTID:110980006 semapv:UnspecifiedMatching MONDO:0015532 generalized eruptive histiocytosis skos:exactMatch UMLS:C0347404 semapv:UnspecifiedMatching MONDO:0015533 benign cephalic histiocytosis skos:exactMatch MEDGEN:578000 semapv:UnspecifiedMatching MONDO:0015533 benign cephalic histiocytosis skos:exactMatch Orphanet:157997 Benign cephalic histiocytosis semapv:UnspecifiedMatching MONDO:0015533 benign cephalic histiocytosis skos:exactMatch SCTID:255192005 semapv:UnspecifiedMatching MONDO:0015533 benign cephalic histiocytosis skos:exactMatch UMLS:C0347403 semapv:UnspecifiedMatching MONDO:0015533 benign cephalic histiocytosis skos:exactMatch icd11.foundation:339468256 Benign cephalic histiocytosis semapv:UnspecifiedMatching MONDO:0015534 juvenile xanthogranuloma skos:exactMatch DOID:4424 juvenile xanthogranuloma semapv:UnspecifiedMatching MONDO:0015534 juvenile xanthogranuloma skos:exactMatch EFO:1000311 semapv:UnspecifiedMatching MONDO:0015534 juvenile xanthogranuloma skos:exactMatch MEDGEN:12179 semapv:UnspecifiedMatching MONDO:0015534 juvenile xanthogranuloma skos:exactMatch NCIT:C3451 Juvenile Xanthogranuloma semapv:UnspecifiedMatching MONDO:0015534 juvenile xanthogranuloma skos:exactMatch Orphanet:158000 Juvenile xanthogranuloma semapv:UnspecifiedMatching MONDO:0015534 juvenile xanthogranuloma skos:exactMatch SCTID:400204000 semapv:UnspecifiedMatching MONDO:0015534 juvenile xanthogranuloma skos:exactMatch UMLS:C0043324 semapv:UnspecifiedMatching MONDO:0015534 juvenile xanthogranuloma skos:exactMatch icd11.foundation:98595592 Juvenile xanthogranuloma semapv:UnspecifiedMatching MONDO:0015534 juvenile xanthogranuloma skos:exactMatch mesh:D014972 semapv:UnspecifiedMatching MONDO:0015535 xanthoma disseminatum skos:exactMatch MEDGEN:12178 semapv:UnspecifiedMatching MONDO:0015535 xanthoma disseminatum skos:exactMatch Orphanet:158003 Xanthoma disseminatum semapv:UnspecifiedMatching MONDO:0015535 xanthoma disseminatum skos:exactMatch SCTID:399970005 semapv:UnspecifiedMatching MONDO:0015535 xanthoma disseminatum skos:exactMatch UMLS:C0043322 semapv:UnspecifiedMatching MONDO:0015535 xanthoma disseminatum skos:exactMatch icd11.foundation:1785140754 Xanthoma disseminatum semapv:UnspecifiedMatching MONDO:0015536 papular xanthoma skos:exactMatch MEDGEN:1636485 semapv:UnspecifiedMatching MONDO:0015536 papular xanthoma skos:exactMatch Orphanet:158008 Papular xanthoma semapv:UnspecifiedMatching MONDO:0015536 papular xanthoma skos:exactMatch SCTID:765221009 semapv:UnspecifiedMatching MONDO:0015536 papular xanthoma skos:exactMatch UMLS:C4707373 semapv:UnspecifiedMatching MONDO:0015536 papular xanthoma skos:exactMatch icd11.foundation:1137782407 Papular xanthoma semapv:UnspecifiedMatching MONDO:0015537 necrobiotic xanthogranuloma skos:exactMatch EFO:1001376 semapv:UnspecifiedMatching MONDO:0015537 necrobiotic xanthogranuloma skos:exactMatch MEDGEN:266158 semapv:UnspecifiedMatching MONDO:0015537 necrobiotic xanthogranuloma skos:exactMatch Orphanet:158011 Necrobiotic xanthogranuloma semapv:UnspecifiedMatching MONDO:0015537 necrobiotic xanthogranuloma skos:exactMatch SCTID:404164003 semapv:UnspecifiedMatching MONDO:0015537 necrobiotic xanthogranuloma skos:exactMatch UMLS:C1275339 semapv:UnspecifiedMatching MONDO:0015537 necrobiotic xanthogranuloma skos:exactMatch icd11.foundation:2138563851 Necrobiotic xanthogranuloma semapv:UnspecifiedMatching MONDO:0015537 necrobiotic xanthogranuloma skos:exactMatch mesh:D058252 semapv:UnspecifiedMatching MONDO:0015538 indeterminate dendritic cell tumor skos:exactMatch MEDGEN:415159 semapv:UnspecifiedMatching MONDO:0015538 indeterminate dendritic cell tumor skos:exactMatch NCIT:C81767 Indeterminate Dendritic Cell Tumor semapv:UnspecifiedMatching MONDO:0015538 indeterminate dendritic cell tumor skos:exactMatch Orphanet:158019 Indeterminate cell histiocytosis semapv:UnspecifiedMatching MONDO:0015538 indeterminate dendritic cell tumor skos:exactMatch SCTID:721313009 semapv:UnspecifiedMatching MONDO:0015538 indeterminate dendritic cell tumor skos:exactMatch UMLS:C2825741 semapv:UnspecifiedMatching MONDO:0015539 progressive nodular histiocytosis skos:exactMatch MEDGEN:1647278 semapv:UnspecifiedMatching MONDO:0015539 progressive nodular histiocytosis skos:exactMatch Orphanet:158022 Progressive nodular histiocytosis semapv:UnspecifiedMatching MONDO:0015539 progressive nodular histiocytosis skos:exactMatch SCTID:765141005 semapv:UnspecifiedMatching MONDO:0015539 progressive nodular histiocytosis skos:exactMatch UMLS:C4707331 semapv:UnspecifiedMatching MONDO:0015539 progressive nodular histiocytosis skos:exactMatch icd11.foundation:1576286064 Progressive nodular histiocytosis semapv:UnspecifiedMatching MONDO:0015540 hemophagocytic syndrome skos:exactMatch DOID:0050120 hemophagocytic lymphohistiocytosis semapv:UnspecifiedMatching MONDO:0015540 hemophagocytic syndrome skos:exactMatch ICD10CM:D76.1 Hemophagocytic lymphohistiocytosis semapv:UnspecifiedMatching MONDO:0015540 hemophagocytic syndrome skos:exactMatch MEDGEN:854411 semapv:UnspecifiedMatching MONDO:0015540 hemophagocytic syndrome skos:exactMatch NCIT:C34792 Hemophagocytic Lymphohistiocytosis semapv:UnspecifiedMatching MONDO:0015540 hemophagocytic syndrome skos:exactMatch Orphanet:158032 Hemophagocytic syndrome semapv:UnspecifiedMatching MONDO:0015540 hemophagocytic syndrome skos:exactMatch SCTID:234437005 semapv:UnspecifiedMatching MONDO:0015540 hemophagocytic syndrome skos:exactMatch UMLS:C3887558 semapv:UnspecifiedMatching MONDO:0015541 hereditary hemophagocytic lymphohistiocytosis skos:exactMatch MEDGEN:78797 semapv:UnspecifiedMatching MONDO:0015541 hereditary hemophagocytic lymphohistiocytosis skos:exactMatch OMIMPS:267700 Hemophagocytic lymphohistiocytosis, familial semapv:UnspecifiedMatching MONDO:0015541 hereditary hemophagocytic lymphohistiocytosis skos:exactMatch Orphanet:540 Familial hemophagocytic lymphohistiocytosis semapv:UnspecifiedMatching MONDO:0015541 hereditary hemophagocytic lymphohistiocytosis skos:exactMatch SCTID:398250003 semapv:UnspecifiedMatching MONDO:0015541 hereditary hemophagocytic lymphohistiocytosis skos:exactMatch UMLS:C0272199 semapv:UnspecifiedMatching MONDO:0015542 secondary hemophagocytic lymphohistiocytosis skos:exactMatch MEDGEN:883550 semapv:UnspecifiedMatching MONDO:0015542 secondary hemophagocytic lymphohistiocytosis skos:exactMatch NCIT:C121184 Secondary Hemophagocytic Lymphohistiocytosis semapv:UnspecifiedMatching MONDO:0015542 secondary hemophagocytic lymphohistiocytosis skos:exactMatch Orphanet:158041 Secondary hemophagocytic lymphohistiocytosis semapv:UnspecifiedMatching MONDO:0015542 secondary hemophagocytic lymphohistiocytosis skos:exactMatch UMLS:C4054044 semapv:UnspecifiedMatching MONDO:0015544 acquired hemophagocytic lymphohistiocytosis associated with malignant disease skos:exactMatch MEDGEN:1683300 semapv:UnspecifiedMatching MONDO:0015544 acquired hemophagocytic lymphohistiocytosis associated with malignant disease skos:exactMatch Orphanet:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease semapv:UnspecifiedMatching MONDO:0015544 acquired hemophagocytic lymphohistiocytosis associated with malignant disease skos:exactMatch UMLS:C5190710 semapv:UnspecifiedMatching MONDO:0015545 macrophage activation syndrome skos:exactMatch EFO:1001806 semapv:UnspecifiedMatching MONDO:0015545 macrophage activation syndrome skos:exactMatch MEDGEN:242753 semapv:UnspecifiedMatching MONDO:0015545 macrophage activation syndrome skos:exactMatch NCIT:C114471 Macrophage Activation Syndrome semapv:UnspecifiedMatching MONDO:0015545 macrophage activation syndrome skos:exactMatch Orphanet:158061 Macrophage activation syndrome semapv:UnspecifiedMatching MONDO:0015545 macrophage activation syndrome skos:exactMatch SCTID:430478003 semapv:UnspecifiedMatching MONDO:0015545 macrophage activation syndrome skos:exactMatch UMLS:C1096155 semapv:UnspecifiedMatching MONDO:0015545 macrophage activation syndrome skos:exactMatch mesh:D055501 semapv:UnspecifiedMatching MONDO:0015546 non-distal monosomy 10q skos:exactMatch MEDGEN:1657787 semapv:UnspecifiedMatching MONDO:0015546 non-distal monosomy 10q skos:exactMatch Orphanet:1581 Non-distal deletion 10q syndrome semapv:UnspecifiedMatching MONDO:0015546 non-distal monosomy 10q skos:exactMatch UMLS:C4749375 semapv:UnspecifiedMatching MONDO:0015547 hereditary dementia skos:exactMatch MEDGEN:1842422 semapv:UnspecifiedMatching MONDO:0015547 hereditary dementia skos:exactMatch Orphanet:158124 Genetic dementia semapv:UnspecifiedMatching MONDO:0015547 hereditary dementia skos:exactMatch UMLS:C5680680 semapv:UnspecifiedMatching MONDO:0015548 Huntington disease-like syndrome skos:exactMatch MEDGEN:777988 semapv:UnspecifiedMatching MONDO:0015548 Huntington disease-like syndrome skos:exactMatch Orphanet:158266 Huntington disease-like syndrome semapv:UnspecifiedMatching MONDO:0015548 Huntington disease-like syndrome skos:exactMatch SCTID:702376003 semapv:UnspecifiedMatching MONDO:0015548 Huntington disease-like syndrome skos:exactMatch UMLS:C3711380 semapv:UnspecifiedMatching MONDO:0015548 Huntington disease-like syndrome skos:exactMatch mesh:C580174 semapv:UnspecifiedMatching MONDO:0015549 obsolete rare genetic hematologic disease skos:exactMatch Orphanet:158300 Rare genetic hematologic disease semapv:UnspecifiedMatching MONDO:0015550 suprabasal epidermolysis bullosa simplex skos:exactMatch MEDGEN:1388459 semapv:UnspecifiedMatching MONDO:0015550 suprabasal epidermolysis bullosa simplex skos:exactMatch SCTID:724840004 semapv:UnspecifiedMatching MONDO:0015550 suprabasal epidermolysis bullosa simplex skos:exactMatch UMLS:C4511300 semapv:UnspecifiedMatching MONDO:0015550 suprabasal epidermolysis bullosa simplex skos:exactMatch icd11.foundation:1980336421 Suprabasal epidermolysis bullosa simplex semapv:UnspecifiedMatching MONDO:0015551 obsolete basal epidermolysis bullosa simplex skos:exactMatch Orphanet:158665 OBSOLETE: Basal epidermolysis bullosa simplex semapv:UnspecifiedMatching MONDO:0015551 obsolete basal epidermolysis bullosa simplex skos:exactMatch SCTID:723163000 semapv:UnspecifiedMatching MONDO:0015552 acral dystrophic epidermolysis bullosa skos:exactMatch MEDGEN:1387925 semapv:UnspecifiedMatching MONDO:0015552 acral dystrophic epidermolysis bullosa skos:exactMatch Orphanet:158673 Localized dystrophic epidermolysis bullosa, acral form semapv:UnspecifiedMatching MONDO:0015552 acral dystrophic epidermolysis bullosa skos:exactMatch SCTID:733638006 semapv:UnspecifiedMatching MONDO:0015552 acral dystrophic epidermolysis bullosa skos:exactMatch UMLS:C4518087 semapv:UnspecifiedMatching MONDO:0015553 dystrophic epidermolysis bullosa, nails only skos:exactMatch MEDGEN:928216 semapv:UnspecifiedMatching MONDO:0015553 dystrophic epidermolysis bullosa, nails only skos:exactMatch Orphanet:158676 Localized dystrophic epidermolysis bullosa, nails only semapv:UnspecifiedMatching MONDO:0015553 dystrophic epidermolysis bullosa, nails only skos:exactMatch SCTID:722436002 semapv:UnspecifiedMatching MONDO:0015553 dystrophic epidermolysis bullosa, nails only skos:exactMatch UMLS:C4302547 semapv:UnspecifiedMatching MONDO:0015554 typical urticaria pigmentosa skos:exactMatch MEDGEN:1843439 semapv:UnspecifiedMatching MONDO:0015554 typical urticaria pigmentosa skos:exactMatch Orphanet:158766 Typical urticaria pigmentosa semapv:UnspecifiedMatching MONDO:0015554 typical urticaria pigmentosa skos:exactMatch UMLS:C5680683 semapv:UnspecifiedMatching MONDO:0015555 plaque-form urticaria pigmentosa skos:exactMatch MEDGEN:1843438 semapv:UnspecifiedMatching MONDO:0015555 plaque-form urticaria pigmentosa skos:exactMatch Orphanet:158769 Plaque-form urticaria pigmentosa semapv:UnspecifiedMatching MONDO:0015555 plaque-form urticaria pigmentosa skos:exactMatch UMLS:C5680682 semapv:UnspecifiedMatching MONDO:0015556 nodular urticaria pigmentosa skos:exactMatch MEDGEN:1843440 semapv:UnspecifiedMatching MONDO:0015556 nodular urticaria pigmentosa skos:exactMatch Orphanet:158772 Nodular urticaria pigmentosa semapv:UnspecifiedMatching MONDO:0015556 nodular urticaria pigmentosa skos:exactMatch UMLS:C5680684 semapv:UnspecifiedMatching MONDO:0015557 Smouldering systemic mastocytosis skos:exactMatch MEDGEN:856636 semapv:UnspecifiedMatching MONDO:0015557 Smouldering systemic mastocytosis skos:exactMatch NCIT:C115460 Smoldering Systemic Mastocytosis semapv:UnspecifiedMatching MONDO:0015557 Smouldering systemic mastocytosis skos:exactMatch Orphanet:158775 Smoldering systemic mastocytosis semapv:UnspecifiedMatching MONDO:0015557 Smouldering systemic mastocytosis skos:exactMatch UMLS:C3897042 semapv:UnspecifiedMatching MONDO:0015557 Smouldering systemic mastocytosis skos:exactMatch icd11.foundation:481663898 Smouldering systemic mastocytosis semapv:UnspecifiedMatching MONDO:0015558 isolated bone marrow mastocytosis skos:exactMatch MEDGEN:1672479 semapv:UnspecifiedMatching MONDO:0015558 isolated bone marrow mastocytosis skos:exactMatch NCIT:C198573 Bone Marrow Mastocytosis semapv:UnspecifiedMatching MONDO:0015558 isolated bone marrow mastocytosis skos:exactMatch Orphanet:158778 Isolated bone marrow mastocytosis semapv:UnspecifiedMatching MONDO:0015558 isolated bone marrow mastocytosis skos:exactMatch UMLS:C4509020 semapv:UnspecifiedMatching MONDO:0015558 isolated bone marrow mastocytosis skos:exactMatch icd11.foundation:922733413 Isolated bone marrow mastocytosis semapv:UnspecifiedMatching MONDO:0015559 lymphoadenopathic mastocytosis with eosinophilia skos:exactMatch icd11.foundation:809306056 Lymphoadenopathic mastocytosis with eosinophilia semapv:UnspecifiedMatching MONDO:0015560 obsolete classic mast cell leukemia skos:exactMatch Orphanet:158796 OBSOLETE: Classic mast cell leukemia semapv:UnspecifiedMatching MONDO:0015562 distal monosomy 17q skos:exactMatch MEDGEN:895716 semapv:UnspecifiedMatching MONDO:0015562 distal monosomy 17q skos:exactMatch Orphanet:1597 Distal deletion 17q syndrome semapv:UnspecifiedMatching MONDO:0015562 distal monosomy 17q skos:exactMatch SCTID:715365000 semapv:UnspecifiedMatching MONDO:0015562 distal monosomy 17q skos:exactMatch UMLS:C4275171 semapv:UnspecifiedMatching MONDO:0015564 Castleman disease skos:exactMatch DOID:0111157 Castleman disease semapv:UnspecifiedMatching MONDO:0015564 Castleman disease skos:exactMatch ICD10CM:D47.Z2 Castleman disease semapv:UnspecifiedMatching MONDO:0015564 Castleman disease skos:exactMatch MEDGEN:42211 semapv:UnspecifiedMatching MONDO:0015564 Castleman disease skos:exactMatch NCIT:C3056 Castleman Disease semapv:UnspecifiedMatching MONDO:0015564 Castleman disease skos:exactMatch Orphanet:160 Castleman disease semapv:UnspecifiedMatching MONDO:0015564 Castleman disease skos:exactMatch SCTID:207036003 semapv:UnspecifiedMatching MONDO:0015564 Castleman disease skos:exactMatch UMLS:C0017531 semapv:UnspecifiedMatching MONDO:0015564 Castleman disease skos:exactMatch icd11.foundation:1940989685 Castleman disease semapv:UnspecifiedMatching MONDO:0015564 Castleman disease skos:exactMatch mesh:D005871 semapv:UnspecifiedMatching MONDO:0015565 cap polyposis skos:exactMatch MEDGEN:929640 semapv:UnspecifiedMatching MONDO:0015565 cap polyposis skos:exactMatch Orphanet:160148 Cap polyposis semapv:UnspecifiedMatching MONDO:0015565 cap polyposis skos:exactMatch SCTID:720604008 semapv:UnspecifiedMatching MONDO:0015565 cap polyposis skos:exactMatch UMLS:C4303971 semapv:UnspecifiedMatching MONDO:0015565 cap polyposis skos:exactMatch icd11.foundation:1387262691 Cap polyposis semapv:UnspecifiedMatching MONDO:0015566 2q24 microdeletion syndrome skos:exactMatch MEDGEN:419168 semapv:UnspecifiedMatching MONDO:0015566 2q24 microdeletion syndrome skos:exactMatch Orphanet:1617 Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion semapv:UnspecifiedMatching MONDO:0015566 2q24 microdeletion syndrome skos:exactMatch SCTID:719658006 semapv:UnspecifiedMatching MONDO:0015566 2q24 microdeletion syndrome skos:exactMatch UMLS:C2931816 semapv:UnspecifiedMatching MONDO:0015566 2q24 microdeletion syndrome skos:exactMatch mesh:C538316 semapv:UnspecifiedMatching MONDO:0015567 cataract-glaucoma syndrome skos:exactMatch MEDGEN:930800 semapv:UnspecifiedMatching MONDO:0015567 cataract-glaucoma syndrome skos:exactMatch Orphanet:162 Congenital cataract-anterior segment dysgenesis syndrome semapv:UnspecifiedMatching MONDO:0015567 cataract-glaucoma syndrome skos:exactMatch SCTID:718851007 semapv:UnspecifiedMatching MONDO:0015567 cataract-glaucoma syndrome skos:exactMatch UMLS:C4305131 semapv:UnspecifiedMatching MONDO:0015568 isolated congenital nasal pyriform aperture stenosis skos:exactMatch Orphanet:162516 Isolated congenital nasal pyriform aperture stenosis semapv:UnspecifiedMatching MONDO:0015569 congenital nasal pyriform aperture stenosis with holoprosencephaly skos:exactMatch MEDGEN:1747766 semapv:UnspecifiedMatching MONDO:0015569 congenital nasal pyriform aperture stenosis with holoprosencephaly skos:exactMatch UMLS:C5437790 semapv:UnspecifiedMatching MONDO:0015570 isolated congenital auditory ossicle malformation skos:exactMatch MEDGEN:510593 semapv:UnspecifiedMatching MONDO:0015570 isolated congenital auditory ossicle malformation skos:exactMatch Orphanet:162526 Isolated congenital auditory ossicle malformation semapv:UnspecifiedMatching MONDO:0015570 isolated congenital auditory ossicle malformation skos:exactMatch UMLS:C0158587 semapv:UnspecifiedMatching MONDO:0015571 deletion 5q35 skos:exactMatch MEDGEN:419838 semapv:UnspecifiedMatching MONDO:0015571 deletion 5q35 skos:exactMatch Orphanet:1627 Deletion 5q35 syndrome semapv:UnspecifiedMatching MONDO:0015571 deletion 5q35 skos:exactMatch SCTID:721158009 semapv:UnspecifiedMatching MONDO:0015571 deletion 5q35 skos:exactMatch UMLS:C2931574 semapv:UnspecifiedMatching MONDO:0015571 deletion 5q35 skos:exactMatch mesh:C537647 semapv:UnspecifiedMatching MONDO:0015572 obsolete cerebral malformation due to abnormal neuronal migration skos:exactMatch Orphanet:163209 Non-syndromic cerebral malformation due to abnormal neuronal migration semapv:UnspecifiedMatching MONDO:0015573 subacute cutaneous lupus erythematosus skos:exactMatch ICD10CM:L93.1 Subacute cutaneous lupus erythematosus semapv:UnspecifiedMatching MONDO:0015573 subacute cutaneous lupus erythematosus skos:exactMatch MEDGEN:7403 semapv:UnspecifiedMatching MONDO:0015573 subacute cutaneous lupus erythematosus skos:exactMatch NCIT:C117111 Subacute Cutaneous Lupus Erythematosus semapv:UnspecifiedMatching MONDO:0015573 subacute cutaneous lupus erythematosus skos:exactMatch Orphanet:163525 Subacute cutaneous lupus erythematosus semapv:UnspecifiedMatching MONDO:0015573 subacute cutaneous lupus erythematosus skos:exactMatch SCTID:239891002 semapv:UnspecifiedMatching MONDO:0015573 subacute cutaneous lupus erythematosus skos:exactMatch UMLS:C0024140 semapv:UnspecifiedMatching MONDO:0015573 subacute cutaneous lupus erythematosus skos:exactMatch icd11.foundation:192274757 Subacute cutaneous lupus erythematosus semapv:UnspecifiedMatching MONDO:0015574 chronic cutaneous lupus erythematosus skos:exactMatch Orphanet:163531 Chronic cutaneous lupus erythematosus semapv:UnspecifiedMatching MONDO:0015574 chronic cutaneous lupus erythematosus skos:exactMatch icd11.foundation:1849568465 Chronic cutaneous lupus erythematosus semapv:UnspecifiedMatching MONDO:0015575 obsolete rare bacterial infectious disease skos:exactMatch Orphanet:163582 Rare bacterial infectious disease semapv:UnspecifiedMatching MONDO:0015576 obsolete rare viral disease skos:exactMatch Orphanet:163585 Rare viral disease semapv:UnspecifiedMatching MONDO:0015577 obsolete rare parasitic disease skos:exactMatch Orphanet:163588 Rare parasitic disease semapv:UnspecifiedMatching MONDO:0015578 obsolete rare mycosis skos:exactMatch Orphanet:163591 Rare mycosis semapv:UnspecifiedMatching MONDO:0015579 Hb Bart's hydrops fetalis skos:exactMatch MEDGEN:543726 semapv:UnspecifiedMatching MONDO:0015579 Hb Bart's hydrops fetalis skos:exactMatch Orphanet:163596 Hb Bart's hydrops fetalis semapv:UnspecifiedMatching MONDO:0015579 Hb Bart's hydrops fetalis skos:exactMatch SCTID:5300004 semapv:UnspecifiedMatching MONDO:0015579 Hb Bart's hydrops fetalis skos:exactMatch UMLS:C0272005 semapv:UnspecifiedMatching MONDO:0015580 distal monosomy 7q36 skos:exactMatch MEDGEN:1642679 semapv:UnspecifiedMatching MONDO:0015580 distal monosomy 7q36 skos:exactMatch Orphanet:1636 Distal monosomy 7q36 syndrome semapv:UnspecifiedMatching MONDO:0015580 distal monosomy 7q36 skos:exactMatch SCTID:763529005 semapv:UnspecifiedMatching MONDO:0015580 distal monosomy 7q36 skos:exactMatch UMLS:C4706504 semapv:UnspecifiedMatching MONDO:0015581 obsolete bile acid synthesis defect with cholestasis and malabsorption skos:exactMatch Orphanet:163631 Bile acid synthesis defect with cholestasis and malabsorption semapv:UnspecifiedMatching MONDO:0015581 obsolete bile acid synthesis defect with cholestasis and malabsorption skos:exactMatch icd11.foundation:1295299670 Bile acid synthesis defect with cholestasis semapv:UnspecifiedMatching MONDO:0015582 obsolete rare disorder related with pregnancy, childbirth and puerperium skos:exactMatch Orphanet:163637 Rare disorder related with pregnancy, childbirth and puerperium semapv:UnspecifiedMatching MONDO:0015583 2p21 microdeletion syndrome skos:exactMatch MEDGEN:930206 semapv:UnspecifiedMatching MONDO:0015583 2p21 microdeletion syndrome skos:exactMatch Orphanet:163693 2p21 microdeletion syndrome semapv:UnspecifiedMatching MONDO:0015583 2p21 microdeletion syndrome skos:exactMatch SCTID:719652007 semapv:UnspecifiedMatching MONDO:0015583 2p21 microdeletion syndrome skos:exactMatch UMLS:C4304537 semapv:UnspecifiedMatching MONDO:0015584 febrile infection-related epilepsy syndrome skos:exactMatch MEDGEN:1381987 semapv:UnspecifiedMatching MONDO:0015584 febrile infection-related epilepsy syndrome skos:exactMatch Orphanet:163703 Febrile infection-related epilepsy syndrome semapv:UnspecifiedMatching MONDO:0015584 febrile infection-related epilepsy syndrome skos:exactMatch SCTID:725413002 semapv:UnspecifiedMatching MONDO:0015584 febrile infection-related epilepsy syndrome skos:exactMatch UMLS:C4049262 semapv:UnspecifiedMatching MONDO:0015584 febrile infection-related epilepsy syndrome skos:exactMatch icd11.foundation:1316435973 Febrile infection-related epilepsy syndrome semapv:UnspecifiedMatching MONDO:0015585 cryptogenic late-onset epileptic spasms skos:exactMatch MEDGEN:1666207 semapv:UnspecifiedMatching MONDO:0015585 cryptogenic late-onset epileptic spasms skos:exactMatch Orphanet:163708 Cryptogenic late-onset epileptic spasms semapv:UnspecifiedMatching MONDO:0015585 cryptogenic late-onset epileptic spasms skos:exactMatch UMLS:C4755310 semapv:UnspecifiedMatching MONDO:0015585 cryptogenic late-onset epileptic spasms skos:exactMatch icd11.foundation:457378168 Cryptogenic late-onset epileptic spasms semapv:UnspecifiedMatching MONDO:0015587 rolandic epilepsy-speech dyspraxia syndrome skos:exactMatch MEDGEN:1633042 semapv:UnspecifiedMatching MONDO:0015587 rolandic epilepsy-speech dyspraxia syndrome skos:exactMatch Orphanet:163721 Rolandic epilepsy-speech dyspraxia syndrome semapv:UnspecifiedMatching MONDO:0015587 rolandic epilepsy-speech dyspraxia syndrome skos:exactMatch UMLS:C4707308 semapv:UnspecifiedMatching MONDO:0015587 rolandic epilepsy-speech dyspraxia syndrome skos:exactMatch icd11.foundation:288052868 Rolandic epilepsy-speech dyspraxia syndrome semapv:UnspecifiedMatching MONDO:0015588 limbic encephalitis skos:exactMatch DOID:0080741 limbic encephalitis semapv:UnspecifiedMatching MONDO:0015588 limbic encephalitis skos:exactMatch MEDGEN:137895 semapv:UnspecifiedMatching MONDO:0015588 limbic encephalitis skos:exactMatch SCTID:230192003 semapv:UnspecifiedMatching MONDO:0015588 limbic encephalitis skos:exactMatch UMLS:C0338430 semapv:UnspecifiedMatching MONDO:0015588 limbic encephalitis skos:exactMatch mesh:D020363 semapv:UnspecifiedMatching MONDO:0015589 paraneoplastic limbic encephalitis skos:exactMatch NCIT:C4350 Limbic Encephalitis semapv:UnspecifiedMatching MONDO:0015589 paraneoplastic limbic encephalitis skos:exactMatch SCTID:445014002 semapv:UnspecifiedMatching MONDO:0015589 paraneoplastic limbic encephalitis skos:exactMatch icd11.foundation:1147819644 Paraneoplastic limbic encephalitis semapv:UnspecifiedMatching MONDO:0015591 obsolete limbic encephalitis associated with antibodies to cell membrane antigens skos:exactMatch Orphanet:163903 OBSOLETE: Limbic encephalitis associated with antibodies to cell membrane antigens semapv:UnspecifiedMatching MONDO:0015592 limbic encephalitis with LGI1 antibodies skos:exactMatch MEDGEN:1645969 semapv:UnspecifiedMatching MONDO:0015592 limbic encephalitis with LGI1 antibodies skos:exactMatch SCTID:763794005 semapv:UnspecifiedMatching MONDO:0015592 limbic encephalitis with LGI1 antibodies skos:exactMatch UMLS:C4706583 semapv:UnspecifiedMatching MONDO:0015593 obsolete limbic encephalitis with nCMAgs antibodies skos:exactMatch Orphanet:163914 OBSOLETE: Limbic encephalitis with nCMAgs antibodies semapv:UnspecifiedMatching MONDO:0015594 obsolete non-paraneoplastic limbic encephalitis skos:exactMatch Orphanet:163918 OBSOLETE: Non-paraneoplastic limbic encephalitis semapv:UnspecifiedMatching MONDO:0015595 posttransplant acute limbic encephalitis skos:exactMatch MEDGEN:1657779 semapv:UnspecifiedMatching MONDO:0015595 posttransplant acute limbic encephalitis skos:exactMatch Orphanet:163921 Posttransplant acute limbic encephalitis semapv:UnspecifiedMatching MONDO:0015595 posttransplant acute limbic encephalitis skos:exactMatch UMLS:C4750744 semapv:UnspecifiedMatching MONDO:0015596 non-herpetic acute limbic encephalitis skos:exactMatch MEDGEN:1646654 semapv:UnspecifiedMatching MONDO:0015596 non-herpetic acute limbic encephalitis skos:exactMatch SCTID:764998005 semapv:UnspecifiedMatching MONDO:0015596 non-herpetic acute limbic encephalitis skos:exactMatch UMLS:C4707262 semapv:UnspecifiedMatching MONDO:0015597 palmoplantar pustulosis skos:exactMatch DOID:4398 pustulosis of palm and sole semapv:UnspecifiedMatching MONDO:0015597 palmoplantar pustulosis skos:exactMatch ICD10CM:L40.3 Pustulosis palmaris et plantaris semapv:UnspecifiedMatching MONDO:0015597 palmoplantar pustulosis skos:exactMatch MEDGEN:45290 semapv:UnspecifiedMatching MONDO:0015597 palmoplantar pustulosis skos:exactMatch NCIT:C34888 Palmoplantar Pustulosis semapv:UnspecifiedMatching MONDO:0015597 palmoplantar pustulosis skos:exactMatch Orphanet:163927 Pustulosis palmaris et plantaris semapv:UnspecifiedMatching MONDO:0015597 palmoplantar pustulosis skos:exactMatch SCTID:27520001 semapv:UnspecifiedMatching MONDO:0015597 palmoplantar pustulosis skos:exactMatch SCTID:81271001 semapv:UnspecifiedMatching MONDO:0015597 palmoplantar pustulosis skos:exactMatch UMLS:C0030246 semapv:UnspecifiedMatching MONDO:0015597 palmoplantar pustulosis skos:exactMatch icd11.foundation:877172115 Palmoplantar pustulosis semapv:UnspecifiedMatching MONDO:0015599 atopic keratoconjunctivitis skos:exactMatch MEDGEN:698110 semapv:UnspecifiedMatching MONDO:0015599 atopic keratoconjunctivitis skos:exactMatch Orphanet:163934 Atopic keratoconjunctivitis semapv:UnspecifiedMatching MONDO:0015599 atopic keratoconjunctivitis skos:exactMatch SCTID:403434009 semapv:UnspecifiedMatching MONDO:0015599 atopic keratoconjunctivitis skos:exactMatch UMLS:C1274788 semapv:UnspecifiedMatching MONDO:0015599 atopic keratoconjunctivitis skos:exactMatch icd11.foundation:1941631830 Atopic keratoconjunctivitis semapv:UnspecifiedMatching MONDO:0015600 X-linked intellectual disability, Cilliers type skos:exactMatch MEDGEN:930693 semapv:UnspecifiedMatching MONDO:0015600 X-linked intellectual disability, Cilliers type skos:exactMatch Orphanet:163971 X-linked intellectual disability, Cilliers type semapv:UnspecifiedMatching MONDO:0015600 X-linked intellectual disability, Cilliers type skos:exactMatch SCTID:719013004 semapv:UnspecifiedMatching MONDO:0015600 X-linked intellectual disability, Cilliers type skos:exactMatch UMLS:C4305024 semapv:UnspecifiedMatching MONDO:0015601 X-linked intellectual disability, van Esch type skos:exactMatch DOID:0111840 Van Esch-O'Driscoll syndrome semapv:UnspecifiedMatching MONDO:0015601 X-linked intellectual disability, van Esch type skos:exactMatch MEDGEN:930741 semapv:UnspecifiedMatching MONDO:0015601 X-linked intellectual disability, van Esch type skos:exactMatch OMIM:301030 van esch-o'driscoll syndrome semapv:UnspecifiedMatching MONDO:0015601 X-linked intellectual disability, van Esch type skos:exactMatch Orphanet:163976 X-linked intellectual disability, Van Esch type semapv:UnspecifiedMatching MONDO:0015601 X-linked intellectual disability, van Esch type skos:exactMatch SCTID:718914002 semapv:UnspecifiedMatching MONDO:0015601 X-linked intellectual disability, van Esch type skos:exactMatch UMLS:C4305072 semapv:UnspecifiedMatching MONDO:0015602 obsolete developmental delay-deafness syndrome, Hildebrand type skos:exactMatch Orphanet:163988 OBSOLETE: Developmental delay-deafness syndrome, Hildebrand type semapv:UnspecifiedMatching MONDO:0015603 obsolete rare odontal or periodontal disorder skos:exactMatch Orphanet:164001 Rare odontal or periodontal disorder semapv:UnspecifiedMatching MONDO:0015604 middle ear anomaly skos:exactMatch MEDGEN:540027 semapv:UnspecifiedMatching MONDO:0015604 middle ear anomaly skos:exactMatch Orphanet:164004 Middle and/or inner ear anomaly semapv:UnspecifiedMatching MONDO:0015604 middle ear anomaly skos:exactMatch UMLS:C0266599 semapv:UnspecifiedMatching MONDO:0015605 distal monosomy 9p skos:exactMatch MEDGEN:539240 semapv:UnspecifiedMatching MONDO:0015605 distal monosomy 9p skos:exactMatch Orphanet:1642 Distal deletion 9p syndrome semapv:UnspecifiedMatching MONDO:0015605 distal monosomy 9p skos:exactMatch SCTID:763530000 semapv:UnspecifiedMatching MONDO:0015605 distal monosomy 9p skos:exactMatch UMLS:C0265425 semapv:UnspecifiedMatching MONDO:0015605 distal monosomy 9p skos:exactMatch mesh:C538025 semapv:UnspecifiedMatching MONDO:0015606 Xp22.3 microdeletion syndrome skos:exactMatch MEDGEN:1388343 semapv:UnspecifiedMatching MONDO:0015606 Xp22.3 microdeletion syndrome skos:exactMatch Orphanet:1643 Xp22.3 microdeletion syndrome semapv:UnspecifiedMatching MONDO:0015606 Xp22.3 microdeletion syndrome skos:exactMatch SCTID:726733007 semapv:UnspecifiedMatching MONDO:0015606 Xp22.3 microdeletion syndrome skos:exactMatch UMLS:C4512072 semapv:UnspecifiedMatching MONDO:0015607 partial chromosome Y deletion skos:exactMatch MEDGEN:267211 semapv:UnspecifiedMatching MONDO:0015607 partial chromosome Y deletion skos:exactMatch Orphanet:1646 Chromosome Y microdeletion syndrome semapv:UnspecifiedMatching MONDO:0015607 partial chromosome Y deletion skos:exactMatch SCTID:717158001 semapv:UnspecifiedMatching MONDO:0015607 partial chromosome Y deletion skos:exactMatch UMLS:C1507149 semapv:UnspecifiedMatching MONDO:0015607 partial chromosome Y deletion skos:exactMatch mesh:C536297 semapv:UnspecifiedMatching MONDO:0015608 acute myeloid leukemia and myelodysplastic syndromes related to radiation skos:exactMatch MEDGEN:1637827 semapv:UnspecifiedMatching MONDO:0015608 acute myeloid leukemia and myelodysplastic syndromes related to radiation skos:exactMatch Orphanet:164726 Acute myeloid leukemia and myelodysplastic syndromes related to radiation semapv:UnspecifiedMatching MONDO:0015608 acute myeloid leukemia and myelodysplastic syndromes related to radiation skos:exactMatch UMLS:C4707660 semapv:UnspecifiedMatching MONDO:0015609 advanced sleep phase syndrome skos:exactMatch DOID:0050628 advanced sleep phase syndrome semapv:UnspecifiedMatching MONDO:0015609 advanced sleep phase syndrome skos:exactMatch MEDGEN:348956 semapv:UnspecifiedMatching MONDO:0015609 advanced sleep phase syndrome skos:exactMatch OMIMPS:604348 Advanced sleep phase syndrome semapv:UnspecifiedMatching MONDO:0015609 advanced sleep phase syndrome skos:exactMatch Orphanet:164736 Familial advanced sleep-phase syndrome semapv:UnspecifiedMatching MONDO:0015609 advanced sleep phase syndrome skos:exactMatch SCTID:715829003 semapv:UnspecifiedMatching MONDO:0015609 advanced sleep phase syndrome skos:exactMatch UMLS:C1858496 semapv:UnspecifiedMatching MONDO:0015610 acquired aplastic anemia skos:exactMatch MEDGEN:543648 semapv:UnspecifiedMatching MONDO:0015610 acquired aplastic anemia skos:exactMatch Orphanet:164823 Rare acquired aplastic anemia semapv:UnspecifiedMatching MONDO:0015610 acquired aplastic anemia skos:exactMatch SCTID:55907008 semapv:UnspecifiedMatching MONDO:0015610 acquired aplastic anemia skos:exactMatch UMLS:C0271907 semapv:UnspecifiedMatching MONDO:0015611 neutral lipid storage disease skos:exactMatch DOID:0050729 Chanarin-Dorfman syndrome semapv:UnspecifiedMatching MONDO:0015611 neutral lipid storage disease skos:exactMatch MEDGEN:1853293 semapv:UnspecifiedMatching MONDO:0015611 neutral lipid storage disease skos:exactMatch Orphanet:165 Neutral lipid storage disease semapv:UnspecifiedMatching MONDO:0015611 neutral lipid storage disease skos:exactMatch UMLS:C5848057 semapv:UnspecifiedMatching MONDO:0015611 neutral lipid storage disease skos:exactMatch icd11.foundation:621440298 Neutral lipid storage disease semapv:UnspecifiedMatching MONDO:0015612 Dent disease skos:exactMatch DOID:0050699 Dent disease semapv:UnspecifiedMatching MONDO:0015612 Dent disease skos:exactMatch MEDGEN:168056 semapv:UnspecifiedMatching MONDO:0015612 Dent disease skos:exactMatch NCIT:C123260 Dent Disease semapv:UnspecifiedMatching MONDO:0015612 Dent disease skos:exactMatch OMIMPS:300009 Dent disease semapv:UnspecifiedMatching MONDO:0015612 Dent disease skos:exactMatch Orphanet:1652 Dent disease semapv:UnspecifiedMatching MONDO:0015612 Dent disease skos:exactMatch SCTID:444645005 semapv:UnspecifiedMatching MONDO:0015612 Dent disease skos:exactMatch UMLS:C0878681 semapv:UnspecifiedMatching MONDO:0015612 Dent disease skos:exactMatch icd11.foundation:1762998355 Dent disease semapv:UnspecifiedMatching MONDO:0015612 Dent disease skos:exactMatch mesh:D057973 semapv:UnspecifiedMatching MONDO:0015613 dentin dysplasia skos:exactMatch DOID:701 dentin dysplasia semapv:UnspecifiedMatching MONDO:0015613 dentin dysplasia skos:exactMatch MEDGEN:8310 semapv:UnspecifiedMatching MONDO:0015613 dentin dysplasia skos:exactMatch Orphanet:1653 Dentin dysplasia semapv:UnspecifiedMatching MONDO:0015613 dentin dysplasia skos:exactMatch SCTID:109492001 semapv:UnspecifiedMatching MONDO:0015613 dentin dysplasia skos:exactMatch UMLS:C0011430 semapv:UnspecifiedMatching MONDO:0015613 dentin dysplasia skos:exactMatch icd11.foundation:1262020657 Dentine dysplasia semapv:UnspecifiedMatching MONDO:0015613 dentin dysplasia skos:exactMatch mesh:D003805 semapv:UnspecifiedMatching MONDO:0015614 dermatitis herpetiformis skos:exactMatch DOID:8505 dermatitis herpetiformis semapv:UnspecifiedMatching MONDO:0015614 dermatitis herpetiformis skos:exactMatch EFO:1000684 semapv:UnspecifiedMatching MONDO:0015614 dermatitis herpetiformis skos:exactMatch ICD10CM:L13.0 Dermatitis herpetiformis semapv:UnspecifiedMatching MONDO:0015614 dermatitis herpetiformis skos:exactMatch MEDGEN:8327 semapv:UnspecifiedMatching MONDO:0015614 dermatitis herpetiformis skos:exactMatch NCIT:C26742 Dermatitis Herpetiformis semapv:UnspecifiedMatching MONDO:0015614 dermatitis herpetiformis skos:exactMatch Orphanet:1656 Dermatitis herpetiformis semapv:UnspecifiedMatching MONDO:0015614 dermatitis herpetiformis skos:exactMatch SCTID:111196000 semapv:UnspecifiedMatching MONDO:0015614 dermatitis herpetiformis skos:exactMatch UMLS:C0011608 semapv:UnspecifiedMatching MONDO:0015614 dermatitis herpetiformis skos:exactMatch icd11.foundation:286313127 Dermatitis herpetiformis semapv:UnspecifiedMatching MONDO:0015614 dermatitis herpetiformis skos:exactMatch mesh:D003874 semapv:UnspecifiedMatching MONDO:0015615 obsolete rare genetic gastroenterological disease skos:exactMatch Orphanet:165652 Rare genetic gastroenterological disease semapv:UnspecifiedMatching MONDO:0015616 obsolete rare genetic intestinal disease skos:exactMatch Orphanet:165655 Genetic intestinal disease semapv:UnspecifiedMatching MONDO:0015617 obsolete hereditary gastro-esophageal disease skos:exactMatch Orphanet:165658 Genetic gastro-esophageal disease semapv:UnspecifiedMatching MONDO:0015618 obsolete genetic pancreatic disease skos:exactMatch Orphanet:165661 Genetic pancreatic disease semapv:UnspecifiedMatching MONDO:0015619 obsolete non-syndromic urogenital tract malformation skos:exactMatch Orphanet:165704 Non-syndromic urogenital tract malformation semapv:UnspecifiedMatching MONDO:0015620 obsolete syndromic urogenital tract malformation skos:exactMatch Orphanet:165707 Syndromic urogenital tract malformation semapv:UnspecifiedMatching MONDO:0015621 obsolete rare abdominal surgical disease skos:exactMatch Orphanet:165711 Rare abdominal surgical disease semapv:UnspecifiedMatching MONDO:0015622 wound myiasis skos:exactMatch ICD10CM:B87.1 Wound myiasis semapv:UnspecifiedMatching MONDO:0015622 wound myiasis skos:exactMatch MEDGEN:576044 semapv:UnspecifiedMatching MONDO:0015622 wound myiasis skos:exactMatch Orphanet:165955 Wound myiasis semapv:UnspecifiedMatching MONDO:0015622 wound myiasis skos:exactMatch SCTID:240880004 semapv:UnspecifiedMatching MONDO:0015622 wound myiasis skos:exactMatch UMLS:C0344061 semapv:UnspecifiedMatching MONDO:0015622 wound myiasis skos:exactMatch icd11.foundation:894204357 Wound myiasis semapv:UnspecifiedMatching MONDO:0015623 cavitary myiasis skos:exactMatch MEDGEN:1631496 semapv:UnspecifiedMatching MONDO:0015623 cavitary myiasis skos:exactMatch Orphanet:165958 Cavitary myiasis semapv:UnspecifiedMatching MONDO:0015623 cavitary myiasis skos:exactMatch SCTID:764811001 semapv:UnspecifiedMatching MONDO:0015623 cavitary myiasis skos:exactMatch UMLS:C4707154 semapv:UnspecifiedMatching MONDO:0015624 diazoxide-sensitive diffuse hyperinsulinism skos:exactMatch MEDGEN:1842739 semapv:UnspecifiedMatching MONDO:0015624 diazoxide-sensitive diffuse hyperinsulinism skos:exactMatch Orphanet:165985 Diazoxide-sensitive diffuse hyperinsulinism semapv:UnspecifiedMatching MONDO:0015624 diazoxide-sensitive diffuse hyperinsulinism skos:exactMatch UMLS:C5679570 semapv:UnspecifiedMatching MONDO:0015625 diazoxide-resistant diffuse hyperinsulinism skos:exactMatch MEDGEN:1843355 semapv:UnspecifiedMatching MONDO:0015625 diazoxide-resistant diffuse hyperinsulinism skos:exactMatch Orphanet:165988 Diazoxide-resistant diffuse hyperinsulinism semapv:UnspecifiedMatching MONDO:0015625 diazoxide-resistant diffuse hyperinsulinism skos:exactMatch UMLS:C5679569 semapv:UnspecifiedMatching MONDO:0015626 Charcot-Marie-Tooth disease skos:exactMatch DOID:10595 Charcot-Marie-Tooth disease semapv:UnspecifiedMatching MONDO:0015626 Charcot-Marie-Tooth disease skos:exactMatch MEDGEN:2980 semapv:UnspecifiedMatching MONDO:0015626 Charcot-Marie-Tooth disease skos:exactMatch NCIT:C75467 Charcot-Marie-Tooth Disease semapv:UnspecifiedMatching MONDO:0015626 Charcot-Marie-Tooth disease skos:exactMatch OMIMPS:118220 Charcot-Marie-Tooth disease semapv:UnspecifiedMatching MONDO:0015626 Charcot-Marie-Tooth disease skos:exactMatch Orphanet:166 Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy semapv:UnspecifiedMatching MONDO:0015626 Charcot-Marie-Tooth disease skos:exactMatch UMLS:C0007959 semapv:UnspecifiedMatching MONDO:0015626 Charcot-Marie-Tooth disease skos:exactMatch mesh:D002607 semapv:UnspecifiedMatching MONDO:0015627 multiple epiphyseal dysplasia due to collagen 9 anomaly skos:exactMatch DOID:0070305 multiple epiphyseal dysplasia due to collagen 9 anomaly semapv:UnspecifiedMatching MONDO:0015627 multiple epiphyseal dysplasia due to collagen 9 anomaly skos:exactMatch MEDGEN:1647610 semapv:UnspecifiedMatching MONDO:0015627 multiple epiphyseal dysplasia due to collagen 9 anomaly skos:exactMatch Orphanet:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly semapv:UnspecifiedMatching MONDO:0015627 multiple epiphyseal dysplasia due to collagen 9 anomaly skos:exactMatch SCTID:766717008 semapv:UnspecifiedMatching MONDO:0015627 multiple epiphyseal dysplasia due to collagen 9 anomaly skos:exactMatch UMLS:C4707798 semapv:UnspecifiedMatching MONDO:0015627 multiple epiphyseal dysplasia due to collagen 9 anomaly skos:exactMatch icd11.foundation:741183905 Multiple epiphyseal dysplasia due to collagen 9 anomaly semapv:UnspecifiedMatching MONDO:0015628 von Willebrand disease type 2A skos:exactMatch MEDGEN:220920 semapv:UnspecifiedMatching MONDO:0015628 von Willebrand disease type 2A skos:exactMatch NCIT:C131686 von Willebrand Disease, Type 2A semapv:UnspecifiedMatching MONDO:0015628 von Willebrand disease type 2A skos:exactMatch Orphanet:166084 Von Willebrand disease type 2A semapv:UnspecifiedMatching MONDO:0015628 von Willebrand disease type 2A skos:exactMatch SCTID:359714009 semapv:UnspecifiedMatching MONDO:0015628 von Willebrand disease type 2A skos:exactMatch UMLS:C1282968 semapv:UnspecifiedMatching MONDO:0015628 von Willebrand disease type 2A skos:exactMatch icd11.foundation:1009291548 Von Willebrand disease type 2A semapv:UnspecifiedMatching MONDO:0015629 von Willebrand disease type 2B skos:exactMatch MEDGEN:224831 semapv:UnspecifiedMatching MONDO:0015629 von Willebrand disease type 2B skos:exactMatch NCIT:C131687 von Willebrand Disease, Type 2B semapv:UnspecifiedMatching MONDO:0015629 von Willebrand disease type 2B skos:exactMatch Orphanet:166087 Von Willebrand disease type 2B semapv:UnspecifiedMatching MONDO:0015629 von Willebrand disease type 2B skos:exactMatch SCTID:359717002 semapv:UnspecifiedMatching MONDO:0015629 von Willebrand disease type 2B skos:exactMatch SCTID:359721009 semapv:UnspecifiedMatching MONDO:0015629 von Willebrand disease type 2B skos:exactMatch UMLS:C1282971 semapv:UnspecifiedMatching MONDO:0015629 von Willebrand disease type 2B skos:exactMatch icd11.foundation:1383884415 Von Willebrand disease type 2B semapv:UnspecifiedMatching MONDO:0015630 von Willebrand disease type 2M skos:exactMatch MEDGEN:266186 semapv:UnspecifiedMatching MONDO:0015630 von Willebrand disease type 2M skos:exactMatch NCIT:C131688 von Willebrand Disease, Type 2M semapv:UnspecifiedMatching MONDO:0015630 von Willebrand disease type 2M skos:exactMatch Orphanet:166090 Von Willebrand disease type 2M semapv:UnspecifiedMatching MONDO:0015630 von Willebrand disease type 2M skos:exactMatch SCTID:359725000 semapv:UnspecifiedMatching MONDO:0015630 von Willebrand disease type 2M skos:exactMatch SCTID:359729006 semapv:UnspecifiedMatching MONDO:0015630 von Willebrand disease type 2M skos:exactMatch UMLS:C1282974 semapv:UnspecifiedMatching MONDO:0015630 von Willebrand disease type 2M skos:exactMatch icd11.foundation:1358085002 Von Willebrand disease type 2M semapv:UnspecifiedMatching MONDO:0015631 von Willebrand disease type 2N skos:exactMatch MEDGEN:266187 semapv:UnspecifiedMatching MONDO:0015631 von Willebrand disease type 2N skos:exactMatch NCIT:C131689 von Willebrand Disease, Type 2N semapv:UnspecifiedMatching MONDO:0015631 von Willebrand disease type 2N skos:exactMatch Orphanet:166093 Von Willebrand disease type 2N semapv:UnspecifiedMatching MONDO:0015631 von Willebrand disease type 2N skos:exactMatch SCTID:359732009 semapv:UnspecifiedMatching MONDO:0015631 von Willebrand disease type 2N skos:exactMatch UMLS:C1282975 semapv:UnspecifiedMatching MONDO:0015631 von Willebrand disease type 2N skos:exactMatch icd11.foundation:1091176565 Von Willebrand disease type 2N semapv:UnspecifiedMatching MONDO:0015632 FASTKD2-related infantile mitochondrial encephalomyopathy skos:exactMatch MEDGEN:1665220 semapv:UnspecifiedMatching MONDO:0015632 FASTKD2-related infantile mitochondrial encephalomyopathy skos:exactMatch Orphanet:166105 FASTKD2-related infantile mitochondrial encephalomyopathy semapv:UnspecifiedMatching MONDO:0015632 FASTKD2-related infantile mitochondrial encephalomyopathy skos:exactMatch UMLS:C4755278 semapv:UnspecifiedMatching MONDO:0015632 FASTKD2-related infantile mitochondrial encephalomyopathy skos:exactMatch icd11.foundation:356231901 FASTKD2-related infantile mitochondrial encephalomyopathy semapv:UnspecifiedMatching MONDO:0015634 isolated osteopoikilosis skos:exactMatch MEDGEN:318940 semapv:UnspecifiedMatching MONDO:0015634 isolated osteopoikilosis skos:exactMatch Orphanet:166119 Isolated osteopoikilosis semapv:UnspecifiedMatching MONDO:0015634 isolated osteopoikilosis skos:exactMatch UMLS:C1833699 semapv:UnspecifiedMatching MONDO:0015635 porokeratotic eccrine ostial and dermal duct nevus skos:exactMatch MEDGEN:96880 semapv:UnspecifiedMatching MONDO:0015635 porokeratotic eccrine ostial and dermal duct nevus skos:exactMatch NCIT:C4740 Porokeratotic Eccrine Ostial and Dermal Duct Nevus semapv:UnspecifiedMatching MONDO:0015635 porokeratotic eccrine ostial and dermal duct nevus skos:exactMatch Orphanet:166286 Porokeratotic eccrine ostial and dermal duct nevus semapv:UnspecifiedMatching MONDO:0015635 porokeratotic eccrine ostial and dermal duct nevus skos:exactMatch SCTID:239118007 semapv:UnspecifiedMatching MONDO:0015635 porokeratotic eccrine ostial and dermal duct nevus skos:exactMatch UMLS:C0473579 semapv:UnspecifiedMatching MONDO:0015636 dirofilariasis skos:exactMatch DOID:1082 dirofilariasis semapv:UnspecifiedMatching MONDO:0015636 dirofilariasis skos:exactMatch EFO:0007239 semapv:UnspecifiedMatching MONDO:0015636 dirofilariasis skos:exactMatch MEDGEN:4344 semapv:UnspecifiedMatching MONDO:0015636 dirofilariasis skos:exactMatch Orphanet:166291 Dirofilariasis semapv:UnspecifiedMatching MONDO:0015636 dirofilariasis skos:exactMatch SCTID:73328005 semapv:UnspecifiedMatching MONDO:0015636 dirofilariasis skos:exactMatch UMLS:C0012602 semapv:UnspecifiedMatching MONDO:0015636 dirofilariasis skos:exactMatch icd11.foundation:1349492056 Dirofilariasis semapv:UnspecifiedMatching MONDO:0015636 dirofilariasis skos:exactMatch mesh:D004184 semapv:UnspecifiedMatching MONDO:0015638 benign partial epilepsy of infancy with complex partial seizures skos:exactMatch MEDGEN:1654146 semapv:UnspecifiedMatching MONDO:0015638 benign partial epilepsy of infancy with complex partial seizures skos:exactMatch UMLS:C4749347 semapv:UnspecifiedMatching MONDO:0015638 benign partial epilepsy of infancy with complex partial seizures skos:exactMatch icd11.foundation:147618459 Benign partial epilepsy of infancy with complex partial seizures semapv:UnspecifiedMatching MONDO:0015639 benign partial epilepsy with secondarily generalized seizures in infancy skos:exactMatch MEDGEN:1656339 semapv:UnspecifiedMatching MONDO:0015639 benign partial epilepsy with secondarily generalized seizures in infancy skos:exactMatch UMLS:C4749728 semapv:UnspecifiedMatching MONDO:0015639 benign partial epilepsy with secondarily generalized seizures in infancy skos:exactMatch icd11.foundation:413225821 Benign partial epilepsy with secondarily generalized seizures in infancy semapv:UnspecifiedMatching MONDO:0015640 benign infantile seizures associated with mild gastroenteritis skos:exactMatch MEDGEN:1647397 semapv:UnspecifiedMatching MONDO:0015640 benign infantile seizures associated with mild gastroenteritis skos:exactMatch SCTID:765756007 semapv:UnspecifiedMatching MONDO:0015640 benign infantile seizures associated with mild gastroenteritis skos:exactMatch UMLS:C4707564 semapv:UnspecifiedMatching MONDO:0015640 benign infantile seizures associated with mild gastroenteritis skos:exactMatch icd11.foundation:839512399 Benign infantile seizures associated with mild gastroenteritis semapv:UnspecifiedMatching MONDO:0015641 benign infantile focal epilepsy with midline spikes and wave during sleep skos:exactMatch MEDGEN:1663004 semapv:UnspecifiedMatching MONDO:0015641 benign infantile focal epilepsy with midline spikes and wave during sleep skos:exactMatch Orphanet:166308 Benign infantile focal epilepsy with midline spikes and waves during sleep semapv:UnspecifiedMatching MONDO:0015641 benign infantile focal epilepsy with midline spikes and wave during sleep skos:exactMatch UMLS:C4749346 semapv:UnspecifiedMatching MONDO:0015642 benign partial infantile seizures skos:exactMatch MEDGEN:1842641 semapv:UnspecifiedMatching MONDO:0015642 benign partial infantile seizures skos:exactMatch Orphanet:166311 Benign partial infantile seizures semapv:UnspecifiedMatching MONDO:0015642 benign partial infantile seizures skos:exactMatch UMLS:C5680426 semapv:UnspecifiedMatching MONDO:0015643 photosensitive epilepsy skos:exactMatch DOID:0060281 photosensitive epilepsy semapv:UnspecifiedMatching MONDO:0015643 photosensitive epilepsy skos:exactMatch MEDGEN:98285 semapv:UnspecifiedMatching MONDO:0015643 photosensitive epilepsy skos:exactMatch OMIMPS:132100 Photoparoxysmal response semapv:UnspecifiedMatching MONDO:0015643 photosensitive epilepsy skos:exactMatch Orphanet:166409 Photosensitive occipital lobe epilepsy semapv:UnspecifiedMatching MONDO:0015643 photosensitive epilepsy skos:exactMatch SCTID:95208000 semapv:UnspecifiedMatching MONDO:0015643 photosensitive epilepsy skos:exactMatch UMLS:C0393720 semapv:UnspecifiedMatching MONDO:0015643 photosensitive epilepsy skos:exactMatch icd11.foundation:946957931 Photosensitive epilepsy semapv:UnspecifiedMatching MONDO:0015644 audiogenic seizures skos:exactMatch MEDGEN:155927 semapv:UnspecifiedMatching MONDO:0015644 audiogenic seizures skos:exactMatch Orphanet:166415 Audiogenic seizures semapv:UnspecifiedMatching MONDO:0015644 audiogenic seizures skos:exactMatch SCTID:765216006 semapv:UnspecifiedMatching MONDO:0015644 audiogenic seizures skos:exactMatch UMLS:C0751791 semapv:UnspecifiedMatching MONDO:0015645 eating seizures skos:exactMatch MEDGEN:581543 semapv:UnspecifiedMatching MONDO:0015645 eating seizures skos:exactMatch Orphanet:166418 Eating reflex epilepsy semapv:UnspecifiedMatching MONDO:0015645 eating seizures skos:exactMatch SCTID:230450001 semapv:UnspecifiedMatching MONDO:0015645 eating seizures skos:exactMatch UMLS:C0393725 semapv:UnspecifiedMatching MONDO:0015646 orgasm-induced seizures skos:exactMatch MEDGEN:1633277 semapv:UnspecifiedMatching MONDO:0015646 orgasm-induced seizures skos:exactMatch Orphanet:166421 Orgasm-induced seizures semapv:UnspecifiedMatching MONDO:0015646 orgasm-induced seizures skos:exactMatch UMLS:C4706598 semapv:UnspecifiedMatching MONDO:0015647 thinking seizures skos:exactMatch MEDGEN:1647683 semapv:UnspecifiedMatching MONDO:0015647 thinking seizures skos:exactMatch Orphanet:166424 Thinking seizures semapv:UnspecifiedMatching MONDO:0015647 thinking seizures skos:exactMatch SCTID:763622006 semapv:UnspecifiedMatching MONDO:0015647 thinking seizures skos:exactMatch UMLS:C4706523 semapv:UnspecifiedMatching MONDO:0015648 startle epilepsy skos:exactMatch MEDGEN:1633187 semapv:UnspecifiedMatching MONDO:0015648 startle epilepsy skos:exactMatch Orphanet:166427 Startle epilepsy semapv:UnspecifiedMatching MONDO:0015648 startle epilepsy skos:exactMatch SCTID:763632004 semapv:UnspecifiedMatching MONDO:0015648 startle epilepsy skos:exactMatch UMLS:C4706527 semapv:UnspecifiedMatching MONDO:0015648 startle epilepsy skos:exactMatch icd11.foundation:1012101161 Startle epilepsy semapv:UnspecifiedMatching MONDO:0015649 micturation-induced seizures skos:exactMatch MEDGEN:1646690 semapv:UnspecifiedMatching MONDO:0015649 micturation-induced seizures skos:exactMatch Orphanet:166430 Micturation-induced seizures semapv:UnspecifiedMatching MONDO:0015649 micturation-induced seizures skos:exactMatch UMLS:C4706587 semapv:UnspecifiedMatching MONDO:0015650 epilepsy syndrome skos:exactMatch MEDGEN:1371141 semapv:UnspecifiedMatching MONDO:0015650 epilepsy syndrome skos:exactMatch Orphanet:166463 Epilepsy syndrome semapv:UnspecifiedMatching MONDO:0015650 epilepsy syndrome skos:exactMatch UMLS:C4505072 semapv:UnspecifiedMatching MONDO:0015651 obsolete neurocutaneous syndrome with epilepsy skos:exactMatch Orphanet:166466 Neurocutaneous syndrome with epilepsy semapv:UnspecifiedMatching MONDO:0015652 obsolete chromosomal anomaly with epilepsy as a major feature skos:exactMatch Orphanet:166469 Chromosomal anomaly with epilepsy as a major feature semapv:UnspecifiedMatching MONDO:0015653 monogenic epilepsy skos:exactMatch MEDGEN:1842675 semapv:UnspecifiedMatching MONDO:0015653 monogenic epilepsy skos:exactMatch Orphanet:166472 Monogenic disease with epilepsy semapv:UnspecifiedMatching MONDO:0015653 monogenic epilepsy skos:exactMatch UMLS:C5680430 semapv:UnspecifiedMatching MONDO:0015654 obsolete idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes skos:exactMatch Orphanet:166475 Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes semapv:UnspecifiedMatching MONDO:0015655 obsolete cerebral malformation with epilepsy skos:exactMatch Orphanet:166478 Cerebral malformation with epilepsy semapv:UnspecifiedMatching MONDO:0015656 obsolete metabolic disease with epilepsy skos:exactMatch Orphanet:166481 Metabolic diseases with epilepsy semapv:UnspecifiedMatching MONDO:0015657 obsolete inflammatory and autoimmune disease with epilepsy skos:exactMatch Orphanet:166484 Inflammatory and autoimmune disease with epilepsy semapv:UnspecifiedMatching MONDO:0015658 obsolete cerebral diseases of vascular origin with epilepsy skos:exactMatch Orphanet:166487 Cerebral diseases of vascular origin with epilepsy semapv:UnspecifiedMatching MONDO:0015659 obsolete infectious disease with epilepsy skos:exactMatch Orphanet:166490 Infectious disease with epilepsy semapv:UnspecifiedMatching MONDO:0015660 sporadic fetal brain disruption sequence skos:exactMatch MEDGEN:1636968 semapv:UnspecifiedMatching MONDO:0015660 sporadic fetal brain disruption sequence skos:exactMatch Orphanet:1665 Sporadic fetal brain disruption sequence semapv:UnspecifiedMatching MONDO:0015660 sporadic fetal brain disruption sequence skos:exactMatch SCTID:763717004 semapv:UnspecifiedMatching MONDO:0015660 sporadic fetal brain disruption sequence skos:exactMatch UMLS:C4706553 semapv:UnspecifiedMatching MONDO:0015661 dextrocardia skos:exactMatch DOID:9565 dextrocardia semapv:UnspecifiedMatching MONDO:0015661 dextrocardia skos:exactMatch ICD10CM:Q24.0 Dextrocardia semapv:UnspecifiedMatching MONDO:0015661 dextrocardia skos:exactMatch MEDGEN:4255 semapv:UnspecifiedMatching MONDO:0015661 dextrocardia skos:exactMatch NCIT:C84669 Dextrocardia semapv:UnspecifiedMatching MONDO:0015661 dextrocardia skos:exactMatch Orphanet:1666 Dextrocardia semapv:UnspecifiedMatching MONDO:0015661 dextrocardia skos:exactMatch SCTID:27637000 semapv:UnspecifiedMatching MONDO:0015661 dextrocardia skos:exactMatch UMLS:C0011813 semapv:UnspecifiedMatching MONDO:0015661 dextrocardia skos:exactMatch icd11.foundation:1472687600 Dextrocardia semapv:UnspecifiedMatching MONDO:0015661 dextrocardia skos:exactMatch mesh:D003914 semapv:UnspecifiedMatching MONDO:0015662 obsolete hemorrhagic disorder due to an acquired coagulation factor defect skos:exactMatch Orphanet:166775 Rare hemorrhagic disorder due to an acquired coagulation factor defect semapv:UnspecifiedMatching MONDO:0015663 diencephalic syndrome skos:exactMatch MEDGEN:90981 semapv:UnspecifiedMatching MONDO:0015663 diencephalic syndrome skos:exactMatch NCIT:C116955 Diencephalic Syndrome of Infancy semapv:UnspecifiedMatching MONDO:0015663 diencephalic syndrome skos:exactMatch Orphanet:1672 Diencephalic syndrome semapv:UnspecifiedMatching MONDO:0015663 diencephalic syndrome skos:exactMatch SCTID:237733001 semapv:UnspecifiedMatching MONDO:0015663 diencephalic syndrome skos:exactMatch UMLS:C0342436 semapv:UnspecifiedMatching MONDO:0015663 diencephalic syndrome skos:exactMatch icd11.foundation:879659089 Diencephalic syndrome semapv:UnspecifiedMatching MONDO:0015664 idiopathic pulmonary artery dilatation skos:exactMatch MEDGEN:1842555 semapv:UnspecifiedMatching MONDO:0015664 idiopathic pulmonary artery dilatation skos:exactMatch Orphanet:1676 Idiopathic pulmonary artery dilatation semapv:UnspecifiedMatching MONDO:0015664 idiopathic pulmonary artery dilatation skos:exactMatch UMLS:C1384816 semapv:UnspecifiedMatching MONDO:0015665 scleromyxedema skos:exactMatch MEDGEN:120476 semapv:UnspecifiedMatching MONDO:0015665 scleromyxedema skos:exactMatch NCIT:C85061 Scleromyxedema semapv:UnspecifiedMatching MONDO:0015665 scleromyxedema skos:exactMatch Orphanet:167635 Scleromyxedema semapv:UnspecifiedMatching MONDO:0015665 scleromyxedema skos:exactMatch SCTID:402468007 semapv:UnspecifiedMatching MONDO:0015665 scleromyxedema skos:exactMatch UMLS:C0263390 semapv:UnspecifiedMatching MONDO:0015665 scleromyxedema skos:exactMatch mesh:D053718 semapv:UnspecifiedMatching MONDO:0015666 familial idiopathic dilatation of the right atrium skos:exactMatch MEDGEN:901482 semapv:UnspecifiedMatching MONDO:0015666 familial idiopathic dilatation of the right atrium skos:exactMatch Orphanet:1677 Familial idiopathic dilatation of the right atrium semapv:UnspecifiedMatching MONDO:0015666 familial idiopathic dilatation of the right atrium skos:exactMatch SCTID:716773002 semapv:UnspecifiedMatching MONDO:0015666 familial idiopathic dilatation of the right atrium skos:exactMatch UMLS:C4274283 semapv:UnspecifiedMatching MONDO:0015666 familial idiopathic dilatation of the right atrium skos:exactMatch icd11.foundation:2067836926 Congenital giant right atrium semapv:UnspecifiedMatching MONDO:0015667 acute myeloid leukemia by FAB classification skos:exactMatch MEDGEN:1842303 semapv:UnspecifiedMatching MONDO:0015667 acute myeloid leukemia by FAB classification skos:exactMatch NCIT:C27753 Acute Myeloid Leukemia, Not Otherwise Specified semapv:UnspecifiedMatching MONDO:0015667 acute myeloid leukemia by FAB classification skos:exactMatch Orphanet:167714 Unclassified acute myeloid leukemia semapv:UnspecifiedMatching MONDO:0015667 acute myeloid leukemia by FAB classification skos:exactMatch UMLS:C5679583 semapv:UnspecifiedMatching MONDO:0015668 obsolete hereditary dentin defect skos:exactMatch Orphanet:167759 Hereditary dentin defect semapv:UnspecifiedMatching MONDO:0015669 obsolete rare disease with dentinogenesis imperfecta skos:exactMatch Orphanet:167762 Rare disease with dentinogenesis imperfecta semapv:UnspecifiedMatching MONDO:0015672 diprosopus skos:exactMatch MEDGEN:540123 semapv:UnspecifiedMatching MONDO:0015672 diprosopus skos:exactMatch Orphanet:1681 Diprosopus semapv:UnspecifiedMatching MONDO:0015672 diprosopus skos:exactMatch SCTID:62192003 semapv:UnspecifiedMatching MONDO:0015672 diprosopus skos:exactMatch UMLS:C0266731 semapv:UnspecifiedMatching MONDO:0015673 obsolete rare cardiac tumor skos:exactMatch Orphanet:168194 Rare cardiac tumor semapv:UnspecifiedMatching MONDO:0015674 late infantile neuronal ceroid lipofuscinosis skos:exactMatch MEDGEN:9589 semapv:UnspecifiedMatching MONDO:0015674 late infantile neuronal ceroid lipofuscinosis skos:exactMatch SCTID:14637005 semapv:UnspecifiedMatching MONDO:0015674 late infantile neuronal ceroid lipofuscinosis skos:exactMatch UMLS:C0022340 semapv:UnspecifiedMatching MONDO:0015674 late infantile neuronal ceroid lipofuscinosis skos:exactMatch icd11.foundation:1923920542 Late infantile neuronal ceroid lipofuscinosis semapv:UnspecifiedMatching MONDO:0015675 distomatosis skos:exactMatch MEDGEN:21251 semapv:UnspecifiedMatching MONDO:0015675 distomatosis skos:exactMatch Orphanet:1685 Distomatosis semapv:UnspecifiedMatching MONDO:0015675 distomatosis skos:exactMatch SCTID:26089000 semapv:UnspecifiedMatching MONDO:0015675 distomatosis skos:exactMatch UMLS:C0040820 semapv:UnspecifiedMatching MONDO:0015677 cardiac diverticulum skos:exactMatch MEDGEN:903640 semapv:UnspecifiedMatching MONDO:0015677 cardiac diverticulum skos:exactMatch Orphanet:1686 Cardiac diverticulum semapv:UnspecifiedMatching MONDO:0015677 cardiac diverticulum skos:exactMatch UMLS:C0546315 semapv:UnspecifiedMatching MONDO:0015678 dysplasia of head of femur, Meyer type skos:exactMatch MEDGEN:909364 semapv:UnspecifiedMatching MONDO:0015678 dysplasia of head of femur, Meyer type skos:exactMatch Orphanet:168621 Dysplasia of head of femur, Meyer type semapv:UnspecifiedMatching MONDO:0015678 dysplasia of head of femur, Meyer type skos:exactMatch SCTID:715861004 semapv:UnspecifiedMatching MONDO:0015678 dysplasia of head of femur, Meyer type skos:exactMatch UMLS:C4274970 semapv:UnspecifiedMatching MONDO:0015678 dysplasia of head of femur, Meyer type skos:exactMatch icd11.foundation:381445908 Dysplasia of head of femur, Meyer type semapv:UnspecifiedMatching MONDO:0015679 obsolete autosomal thrombocytopenia with normal platelets skos:exactMatch Orphanet:168629 Autosomal thrombocytopenia with normal platelets semapv:UnspecifiedMatching MONDO:0015680 obsolete rare pervasive developmental disorder skos:exactMatch Orphanet:168778 Rare pervasive developmental disorder semapv:UnspecifiedMatching MONDO:0015681 childhood disintegrative disorder skos:exactMatch DOID:13487 childhood disintegrative disease semapv:UnspecifiedMatching MONDO:0015681 childhood disintegrative disorder skos:exactMatch MEDGEN:472967 semapv:UnspecifiedMatching MONDO:0015681 childhood disintegrative disorder skos:exactMatch NCIT:C97164 Childhood Disintegrative Disorder semapv:UnspecifiedMatching MONDO:0015681 childhood disintegrative disorder skos:exactMatch Orphanet:168782 Childhood disintegrative disorder semapv:UnspecifiedMatching MONDO:0015681 childhood disintegrative disorder skos:exactMatch SCTID:71961003 semapv:UnspecifiedMatching MONDO:0015681 childhood disintegrative disorder skos:exactMatch UMLS:C0236791 semapv:UnspecifiedMatching MONDO:0015681 childhood disintegrative disorder skos:exactMatch icd11.foundation:1460615954 Childhood disintegrative disorder semapv:UnspecifiedMatching MONDO:0015682 obsolete primary peritoneal tumor skos:exactMatch Orphanet:168803 Primary peritoneal tumor semapv:UnspecifiedMatching MONDO:0015683 obsolete primary malignant peritoneal tumor skos:exactMatch Orphanet:168807 Primary malignant peritoneal tumor semapv:UnspecifiedMatching MONDO:0015686 primary peritoneal carcinoma skos:exactMatch MEDGEN:269516 semapv:UnspecifiedMatching MONDO:0015686 primary peritoneal carcinoma skos:exactMatch NCIT:C40022 Primary Peritoneal Carcinoma semapv:UnspecifiedMatching MONDO:0015686 primary peritoneal carcinoma skos:exactMatch Orphanet:168829 Primary peritoneal carcinoma semapv:UnspecifiedMatching MONDO:0015686 primary peritoneal carcinoma skos:exactMatch UMLS:C1514428 semapv:UnspecifiedMatching MONDO:0015687 chronic eosinophilic leukemia skos:exactMatch DOID:0080367 chronic eosinophilic leukemia semapv:UnspecifiedMatching MONDO:0015687 chronic eosinophilic leukemia skos:exactMatch MEDGEN:91106 semapv:UnspecifiedMatching MONDO:0015687 chronic eosinophilic leukemia skos:exactMatch NCIT:C4563 Chronic Eosinophilic Leukemia, Not Otherwise Specified semapv:UnspecifiedMatching MONDO:0015687 chronic eosinophilic leukemia skos:exactMatch Orphanet:168940 Chronic eosinophilic leukemia semapv:UnspecifiedMatching MONDO:0015687 chronic eosinophilic leukemia skos:exactMatch SCTID:188733003 semapv:UnspecifiedMatching MONDO:0015687 chronic eosinophilic leukemia skos:exactMatch UMLS:C0346421 semapv:UnspecifiedMatching MONDO:0015687 chronic eosinophilic leukemia skos:exactMatch mesh:C580364 semapv:UnspecifiedMatching MONDO:0015688 myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 skos:exactMatch DOID:0080164 myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 semapv:UnspecifiedMatching MONDO:0015688 myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 skos:exactMatch MEDGEN:417664 semapv:UnspecifiedMatching MONDO:0015688 myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 skos:exactMatch NCIT:C84270 Myeloid/Lymphoid Neoplasms with Eosinophilia and Tyrosine Kinase Gene Fusions semapv:UnspecifiedMatching MONDO:0015688 myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 skos:exactMatch Orphanet:168943 Myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 semapv:UnspecifiedMatching MONDO:0015688 myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 skos:exactMatch UMLS:C2827356 semapv:UnspecifiedMatching MONDO:0015689 myeloid neoplasm associated with PDGFRA rearrangement skos:exactMatch DOID:0080165 myeloid and lymphoid neoplasms associated with PDGFRA rearrangement semapv:UnspecifiedMatching MONDO:0015689 myeloid neoplasm associated with PDGFRA rearrangement skos:exactMatch MEDGEN:1620600 semapv:UnspecifiedMatching MONDO:0015689 myeloid neoplasm associated with PDGFRA rearrangement skos:exactMatch NCIT:C84275 Myeloid/Lymphoid Neoplasms with PDGFRA Rearrangement semapv:UnspecifiedMatching MONDO:0015689 myeloid neoplasm associated with PDGFRA rearrangement skos:exactMatch Orphanet:168947 Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement semapv:UnspecifiedMatching MONDO:0015689 myeloid neoplasm associated with PDGFRA rearrangement skos:exactMatch SCTID:738527001 semapv:UnspecifiedMatching MONDO:0015689 myeloid neoplasm associated with PDGFRA rearrangement skos:exactMatch UMLS:C4545381 semapv:UnspecifiedMatching MONDO:0015689 myeloid neoplasm associated with PDGFRA rearrangement skos:exactMatch icd11.foundation:833355630 Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement semapv:UnspecifiedMatching MONDO:0015690 myeloid neoplasm associated with PDGFRB rearrangement skos:exactMatch DOID:0080166 myeloid and lymphoid neoplasms associated with PDGFRB rearrangement semapv:UnspecifiedMatching MONDO:0015690 myeloid neoplasm associated with PDGFRB rearrangement skos:exactMatch MEDGEN:758646 semapv:UnspecifiedMatching MONDO:0015690 myeloid neoplasm associated with PDGFRB rearrangement skos:exactMatch NCIT:C84276 Myeloid/Lymphoid Neoplasms with PDGFRB Rearrangement semapv:UnspecifiedMatching MONDO:0015690 myeloid neoplasm associated with PDGFRB rearrangement skos:exactMatch Orphanet:168950 Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement semapv:UnspecifiedMatching MONDO:0015690 myeloid neoplasm associated with PDGFRB rearrangement skos:exactMatch SCTID:724642009 semapv:UnspecifiedMatching MONDO:0015690 myeloid neoplasm associated with PDGFRB rearrangement skos:exactMatch UMLS:C3472621 semapv:UnspecifiedMatching MONDO:0015690 myeloid neoplasm associated with PDGFRB rearrangement skos:exactMatch icd11.foundation:625932159 Myeloid neoplasm associated with PDGFRB rearrangement semapv:UnspecifiedMatching MONDO:0015691 hypereosinophilic syndrome skos:exactMatch DOID:999 hypereosinophilic syndrome semapv:UnspecifiedMatching MONDO:0015691 hypereosinophilic syndrome skos:exactMatch EFO:1001467 semapv:UnspecifiedMatching MONDO:0015691 hypereosinophilic syndrome skos:exactMatch ICD10CM:D72.11 Hypereosinophilic syndrome [HES] semapv:UnspecifiedMatching MONDO:0015691 hypereosinophilic syndrome skos:exactMatch MEDGEN:280990 semapv:UnspecifiedMatching MONDO:0015691 hypereosinophilic syndrome skos:exactMatch NCIT:C27038 Idiopathic Hypereosinophilic Syndrome semapv:UnspecifiedMatching MONDO:0015691 hypereosinophilic syndrome skos:exactMatch Orphanet:168956 Hypereosinophilic syndrome semapv:UnspecifiedMatching MONDO:0015691 hypereosinophilic syndrome skos:exactMatch SCTID:419455006 semapv:UnspecifiedMatching MONDO:0015691 hypereosinophilic syndrome skos:exactMatch UMLS:C1540912 semapv:UnspecifiedMatching MONDO:0015691 hypereosinophilic syndrome skos:exactMatch icd11.foundation:110429919 Hypereosinophilic syndrome semapv:UnspecifiedMatching MONDO:0015691 hypereosinophilic syndrome skos:exactMatch mesh:D017681 semapv:UnspecifiedMatching MONDO:0015692 refractory anemia with excess blasts in transformation skos:exactMatch MEDGEN:124692 semapv:UnspecifiedMatching MONDO:0015692 refractory anemia with excess blasts in transformation skos:exactMatch NCIT:C27080 Refractory Anemia with Excess Blasts in Transformation semapv:UnspecifiedMatching MONDO:0015692 refractory anemia with excess blasts in transformation skos:exactMatch Orphanet:168960 Refractory anemia with excess blasts in transformation semapv:UnspecifiedMatching MONDO:0015692 refractory anemia with excess blasts in transformation skos:exactMatch SCTID:110000005 semapv:UnspecifiedMatching MONDO:0015692 refractory anemia with excess blasts in transformation skos:exactMatch UMLS:C0280028 semapv:UnspecifiedMatching MONDO:0015694 malignant melanoma of the mucosa skos:exactMatch MEDGEN:1676191 semapv:UnspecifiedMatching MONDO:0015694 malignant melanoma of the mucosa skos:exactMatch Orphanet:168999 Malignant melanoma of the mucosa semapv:UnspecifiedMatching MONDO:0015694 malignant melanoma of the mucosa skos:exactMatch UMLS:C5191057 semapv:UnspecifiedMatching MONDO:0015695 combined immunodeficiency due to CRAC channel dysfunction skos:exactMatch MEDGEN:929240 semapv:UnspecifiedMatching MONDO:0015695 combined immunodeficiency due to CRAC channel dysfunction skos:exactMatch Orphanet:169090 Combined immunodeficiency due to CRAC channel dysfunction semapv:UnspecifiedMatching MONDO:0015695 combined immunodeficiency due to CRAC channel dysfunction skos:exactMatch SCTID:717811007 semapv:UnspecifiedMatching MONDO:0015695 combined immunodeficiency due to CRAC channel dysfunction skos:exactMatch UMLS:C4303571 semapv:UnspecifiedMatching MONDO:0015695 combined immunodeficiency due to CRAC channel dysfunction skos:exactMatch icd11.foundation:1641826886 Combined immunodeficiency due to CRAC channel dysfunction semapv:UnspecifiedMatching MONDO:0015696 Good syndrome skos:exactMatch DOID:0060028 Good syndrome semapv:UnspecifiedMatching MONDO:0015696 Good syndrome skos:exactMatch MEDGEN:67437 semapv:UnspecifiedMatching MONDO:0015696 Good syndrome skos:exactMatch Orphanet:169105 Good syndrome semapv:UnspecifiedMatching MONDO:0015696 Good syndrome skos:exactMatch SCTID:9893005 semapv:UnspecifiedMatching MONDO:0015696 Good syndrome skos:exactMatch UMLS:C0221027 semapv:UnspecifiedMatching MONDO:0015696 Good syndrome skos:exactMatch icd11.foundation:812332735 Good syndrome semapv:UnspecifiedMatching MONDO:0015697 immunoglobulin heavy chain deficiency skos:exactMatch MEDGEN:98309 semapv:UnspecifiedMatching MONDO:0015697 immunoglobulin heavy chain deficiency skos:exactMatch Orphanet:169110 Immunoglobulin heavy chain deficiency semapv:UnspecifiedMatching MONDO:0015697 immunoglobulin heavy chain deficiency skos:exactMatch SCTID:234539005 semapv:UnspecifiedMatching MONDO:0015697 immunoglobulin heavy chain deficiency skos:exactMatch UMLS:C0398692 semapv:UnspecifiedMatching MONDO:0015697 immunoglobulin heavy chain deficiency skos:exactMatch icd11.foundation:960006636 Immunoglobulin heavy chain deficiency semapv:UnspecifiedMatching MONDO:0015698 transient hypogammaglobulinemia of infancy skos:exactMatch DOID:624 transient hypogammaglobulinemia of infancy semapv:UnspecifiedMatching MONDO:0015698 transient hypogammaglobulinemia of infancy skos:exactMatch ICD10CM:D80.7 Transient hypogammaglobulinemia of infancy semapv:UnspecifiedMatching MONDO:0015698 transient hypogammaglobulinemia of infancy skos:exactMatch MEDGEN:124421 semapv:UnspecifiedMatching MONDO:0015698 transient hypogammaglobulinemia of infancy skos:exactMatch NCIT:C27071 Transient Hypogammaglobulinemia of Infancy semapv:UnspecifiedMatching MONDO:0015698 transient hypogammaglobulinemia of infancy skos:exactMatch Orphanet:169139 Transient hypogammaglobulinemia of infancy semapv:UnspecifiedMatching MONDO:0015698 transient hypogammaglobulinemia of infancy skos:exactMatch SCTID:88714009 semapv:UnspecifiedMatching MONDO:0015698 transient hypogammaglobulinemia of infancy skos:exactMatch UMLS:C0272238 semapv:UnspecifiedMatching MONDO:0015698 transient hypogammaglobulinemia of infancy skos:exactMatch icd11.foundation:1686370790 Transient hypogammaglobulinaemia of infancy semapv:UnspecifiedMatching MONDO:0015699 immunodeficiency due to a classical component pathway complement deficiency skos:exactMatch MEDGEN:585054 semapv:UnspecifiedMatching MONDO:0015699 immunodeficiency due to a classical component pathway complement deficiency skos:exactMatch Orphanet:169147 Immunodeficiency due to a classical component pathway complement deficiency semapv:UnspecifiedMatching MONDO:0015699 immunodeficiency due to a classical component pathway complement deficiency skos:exactMatch UMLS:C0398750 semapv:UnspecifiedMatching MONDO:0015699 immunodeficiency due to a classical component pathway complement deficiency skos:exactMatch icd11.foundation:327609494 Immunodeficiency with an early component of complement deficiency semapv:UnspecifiedMatching MONDO:0015700 immunodeficiency due to a late component of complement deficiency skos:exactMatch MEDGEN:585067 semapv:UnspecifiedMatching MONDO:0015700 immunodeficiency due to a late component of complement deficiency skos:exactMatch Orphanet:169150 Immunodeficiency due to a late component of complement deficiency semapv:UnspecifiedMatching MONDO:0015700 immunodeficiency due to a late component of complement deficiency skos:exactMatch UMLS:C0398765 semapv:UnspecifiedMatching MONDO:0015700 immunodeficiency due to a late component of complement deficiency skos:exactMatch icd11.foundation:531050218 Immunodeficiency with a late component of complement deficiency semapv:UnspecifiedMatching MONDO:0015701 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency skos:exactMatch MEDGEN:1842915 semapv:UnspecifiedMatching MONDO:0015701 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency skos:exactMatch Orphanet:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency semapv:UnspecifiedMatching MONDO:0015701 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency skos:exactMatch UMLS:C5679577 semapv:UnspecifiedMatching MONDO:0015702 T-B+ severe combined immunodeficiency due to CD45 deficiency skos:exactMatch DOID:0060014 CD45 deficiency semapv:UnspecifiedMatching MONDO:0015702 T-B+ severe combined immunodeficiency due to CD45 deficiency skos:exactMatch MEDGEN:1842877 semapv:UnspecifiedMatching MONDO:0015702 T-B+ severe combined immunodeficiency due to CD45 deficiency skos:exactMatch Orphanet:169157 T-B+ severe combined immunodeficiency due to CD45 deficiency semapv:UnspecifiedMatching MONDO:0015702 T-B+ severe combined immunodeficiency due to CD45 deficiency skos:exactMatch UMLS:C5679579 semapv:UnspecifiedMatching MONDO:0015703 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta skos:exactMatch MEDGEN:1842819 semapv:UnspecifiedMatching MONDO:0015703 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta skos:exactMatch Orphanet:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta semapv:UnspecifiedMatching MONDO:0015703 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta skos:exactMatch UMLS:C5679578 semapv:UnspecifiedMatching MONDO:0015704 familial scaphocephaly syndrome skos:exactMatch MEDGEN:797875 semapv:UnspecifiedMatching MONDO:0015704 familial scaphocephaly syndrome skos:exactMatch Orphanet:169163 Familial scaphocephaly syndrome semapv:UnspecifiedMatching MONDO:0015704 familial scaphocephaly syndrome skos:exactMatch UMLS:C3267076 semapv:UnspecifiedMatching MONDO:0015705 autosomal recessive centronuclear myopathy skos:exactMatch DOID:0111216 autosomal recessive centronuclear myopathy semapv:UnspecifiedMatching MONDO:0015705 autosomal recessive centronuclear myopathy skos:exactMatch MEDGEN:771131 semapv:UnspecifiedMatching MONDO:0015705 autosomal recessive centronuclear myopathy skos:exactMatch Orphanet:169186 Autosomal recessive centronuclear myopathy semapv:UnspecifiedMatching MONDO:0015705 autosomal recessive centronuclear myopathy skos:exactMatch SCTID:240081004 semapv:UnspecifiedMatching MONDO:0015705 autosomal recessive centronuclear myopathy skos:exactMatch UMLS:C3645536 semapv:UnspecifiedMatching MONDO:0015705 autosomal recessive centronuclear myopathy skos:exactMatch icd11.foundation:1844602815 Autosomal recessive centronuclear myopathy semapv:UnspecifiedMatching MONDO:0015706 mosaic trisomy 1 skos:exactMatch MEDGEN:1709039 semapv:UnspecifiedMatching MONDO:0015706 mosaic trisomy 1 skos:exactMatch Orphanet:1692 Mosaic trisomy 1 syndrome semapv:UnspecifiedMatching MONDO:0015706 mosaic trisomy 1 skos:exactMatch UMLS:C5394675 semapv:UnspecifiedMatching MONDO:0015707 obsolete DNA repair defect other than combined T-cell and B-cell immunodeficiencies skos:exactMatch Orphanet:169346 DNA repair defect other than combined T-cell and B-cell immunodeficiencies semapv:UnspecifiedMatching MONDO:0015707 obsolete DNA repair defect other than combined T-cell and B-cell immunodeficiencies skos:exactMatch icd11.foundation:1362501774 DNA repair defects other than combined T-cell or B-cell immunodeficiencies semapv:UnspecifiedMatching MONDO:0015708 immuno-osseous dysplasia skos:exactMatch MEDGEN:609410 semapv:UnspecifiedMatching MONDO:0015708 immuno-osseous dysplasia skos:exactMatch Orphanet:169349 Immuno-osseous dysplasia semapv:UnspecifiedMatching MONDO:0015708 immuno-osseous dysplasia skos:exactMatch SCTID:254067002 semapv:UnspecifiedMatching MONDO:0015708 immuno-osseous dysplasia skos:exactMatch UMLS:C0432218 semapv:UnspecifiedMatching MONDO:0015708 immuno-osseous dysplasia skos:exactMatch icd11.foundation:1948303413 Immuno-osseous dysplasia semapv:UnspecifiedMatching MONDO:0015709 obsolete immunodeficiency syndrome with autoimmunity skos:exactMatch Orphanet:169355 Immunodeficiency syndrome with autoimmunity semapv:UnspecifiedMatching MONDO:0015709 obsolete immunodeficiency syndrome with autoimmunity skos:exactMatch icd11.foundation:1902856995 Immune dysregulation syndromes presenting primarily with autoimmunity semapv:UnspecifiedMatching MONDO:0015710 obsolete immune dysregulation disease with immunodeficiency skos:exactMatch Orphanet:169361 Immune dysregulation disease with immunodeficiency semapv:UnspecifiedMatching MONDO:0015711 obsolete specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells skos:exactMatch Orphanet:169443 Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells semapv:UnspecifiedMatching MONDO:0015711 obsolete specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells skos:exactMatch icd11.foundation:29897844 Specific antibody deficiency with normal immunoglobulin concentrations or normal number of B cells semapv:UnspecifiedMatching MONDO:0015712 non-distal trisomy 10q skos:exactMatch MEDGEN:1664181 semapv:UnspecifiedMatching MONDO:0015712 non-distal trisomy 10q skos:exactMatch Orphanet:1695 Non-distal duplication 10q syndrome semapv:UnspecifiedMatching MONDO:0015712 non-distal trisomy 10q skos:exactMatch UMLS:C4749376 semapv:UnspecifiedMatching MONDO:0015713 idiopathic central precocious puberty skos:exactMatch MEDGEN:575094 semapv:UnspecifiedMatching MONDO:0015713 idiopathic central precocious puberty skos:exactMatch NCIT:C120372 Idiopathic Central Precocious Puberty semapv:UnspecifiedMatching MONDO:0015713 idiopathic central precocious puberty skos:exactMatch SCTID:237817008 semapv:UnspecifiedMatching MONDO:0015713 idiopathic central precocious puberty skos:exactMatch UMLS:C0342544 semapv:UnspecifiedMatching MONDO:0015715 severe hemophilia B skos:exactMatch MEDGEN:1826004 semapv:UnspecifiedMatching MONDO:0015715 severe hemophilia B skos:exactMatch Orphanet:169793 Severe hemophilia B semapv:UnspecifiedMatching MONDO:0015715 severe hemophilia B skos:exactMatch UMLS:C5679576 semapv:UnspecifiedMatching MONDO:0015716 moderately severe hemophilia B skos:exactMatch MEDGEN:1842225 semapv:UnspecifiedMatching MONDO:0015716 moderately severe hemophilia B skos:exactMatch Orphanet:169796 Moderate hemophilia B semapv:UnspecifiedMatching MONDO:0015716 moderately severe hemophilia B skos:exactMatch UMLS:C5679575 semapv:UnspecifiedMatching MONDO:0015717 mild hemophilia B skos:exactMatch MEDGEN:1826003 semapv:UnspecifiedMatching MONDO:0015717 mild hemophilia B skos:exactMatch Orphanet:169799 Mild hemophilia B semapv:UnspecifiedMatching MONDO:0015717 mild hemophilia B skos:exactMatch UMLS:C5679574 semapv:UnspecifiedMatching MONDO:0015718 mosaic trisomy 12 skos:exactMatch MEDGEN:1631133 semapv:UnspecifiedMatching MONDO:0015718 mosaic trisomy 12 skos:exactMatch Orphanet:1698 Mosaic trisomy 12 syndrome semapv:UnspecifiedMatching MONDO:0015718 mosaic trisomy 12 skos:exactMatch SCTID:764463001 semapv:UnspecifiedMatching MONDO:0015718 mosaic trisomy 12 skos:exactMatch UMLS:C4706889 semapv:UnspecifiedMatching MONDO:0015719 severe hemophilia A skos:exactMatch MEDGEN:543973 semapv:UnspecifiedMatching MONDO:0015719 severe hemophilia A skos:exactMatch Orphanet:169802 Severe hemophilia A semapv:UnspecifiedMatching MONDO:0015719 severe hemophilia A skos:exactMatch SCTID:16872008 semapv:UnspecifiedMatching MONDO:0015719 severe hemophilia A skos:exactMatch UMLS:C0272322 semapv:UnspecifiedMatching MONDO:0015720 moderately severe hemophilia A skos:exactMatch MEDGEN:543974 semapv:UnspecifiedMatching MONDO:0015720 moderately severe hemophilia A skos:exactMatch Orphanet:169805 Moderate hemophilia A semapv:UnspecifiedMatching MONDO:0015720 moderately severe hemophilia A skos:exactMatch UMLS:C0272323 semapv:UnspecifiedMatching MONDO:0015721 mild hemophilia A skos:exactMatch MEDGEN:543975 semapv:UnspecifiedMatching MONDO:0015721 mild hemophilia A skos:exactMatch Orphanet:169808 Mild hemophilia A semapv:UnspecifiedMatching MONDO:0015721 mild hemophilia A skos:exactMatch SCTID:26029002 semapv:UnspecifiedMatching MONDO:0015721 mild hemophilia A skos:exactMatch UMLS:C0272324 semapv:UnspecifiedMatching MONDO:0015722 congenital vitamin K-dependent coagulation factors deficiency skos:exactMatch DOID:0112172 hereditary combined deficiency of vitamin K-dependent clotting factors semapv:UnspecifiedMatching MONDO:0015722 congenital vitamin K-dependent coagulation factors deficiency skos:exactMatch MEDGEN:1378036 semapv:UnspecifiedMatching MONDO:0015722 congenital vitamin K-dependent coagulation factors deficiency skos:exactMatch OMIMPS:277450 Vitamin K-dependent clotting factors, combined deficiency of semapv:UnspecifiedMatching MONDO:0015722 congenital vitamin K-dependent coagulation factors deficiency skos:exactMatch Orphanet:169826 Congenital vitamin K-dependent coagulation factors deficiency semapv:UnspecifiedMatching MONDO:0015722 congenital vitamin K-dependent coagulation factors deficiency skos:exactMatch Orphanet:98434 Hereditary combined deficiency of vitamin K-dependent clotting factors semapv:UnspecifiedMatching MONDO:0015722 congenital vitamin K-dependent coagulation factors deficiency skos:exactMatch UMLS:C4510617 semapv:UnspecifiedMatching MONDO:0015722 congenital vitamin K-dependent coagulation factors deficiency skos:exactMatch icd11.foundation:54644599 Combined deficiency of vitamin K-dependent clotting factors semapv:UnspecifiedMatching MONDO:0015723 trisomy 12p skos:exactMatch MEDGEN:162880 semapv:UnspecifiedMatching MONDO:0015723 trisomy 12p skos:exactMatch Orphanet:1699 Trisomy 12p syndrome semapv:UnspecifiedMatching MONDO:0015723 trisomy 12p skos:exactMatch UMLS:C0795845 semapv:UnspecifiedMatching MONDO:0015723 trisomy 12p skos:exactMatch mesh:C538299 semapv:UnspecifiedMatching MONDO:0015724 non-distal trisomy 13q skos:exactMatch MEDGEN:1637117 semapv:UnspecifiedMatching MONDO:0015724 non-distal trisomy 13q skos:exactMatch Orphanet:1702 Non-distal duplication 13q syndrome semapv:UnspecifiedMatching MONDO:0015724 non-distal trisomy 13q skos:exactMatch SCTID:764996009 semapv:UnspecifiedMatching MONDO:0015724 non-distal trisomy 13q skos:exactMatch UMLS:C4707260 semapv:UnspecifiedMatching MONDO:0015725 mosaic trisomy 14 skos:exactMatch MEDGEN:418947 semapv:UnspecifiedMatching MONDO:0015725 mosaic trisomy 14 skos:exactMatch NCIT:C116319 Trisomy 14 Mosaicism semapv:UnspecifiedMatching MONDO:0015725 mosaic trisomy 14 skos:exactMatch Orphanet:1703 Mosaic trisomy 14 syndrome semapv:UnspecifiedMatching MONDO:0015725 mosaic trisomy 14 skos:exactMatch SCTID:764466009 semapv:UnspecifiedMatching MONDO:0015725 mosaic trisomy 14 skos:exactMatch UMLS:C2930917 semapv:UnspecifiedMatching MONDO:0015725 mosaic trisomy 14 skos:exactMatch mesh:C535489 semapv:UnspecifiedMatching MONDO:0015726 distal trisomy 14q skos:exactMatch MEDGEN:444122 semapv:UnspecifiedMatching MONDO:0015726 distal trisomy 14q skos:exactMatch Orphanet:1705 Distal duplication 14q syndrome semapv:UnspecifiedMatching MONDO:0015726 distal trisomy 14q skos:exactMatch UMLS:C2931702 semapv:UnspecifiedMatching MONDO:0015726 distal trisomy 14q skos:exactMatch mesh:C538034 semapv:UnspecifiedMatching MONDO:0015727 mosaic trisomy 15 skos:exactMatch MEDGEN:419475 semapv:UnspecifiedMatching MONDO:0015727 mosaic trisomy 15 skos:exactMatch Orphanet:1706 Mosaic trisomy 15 syndrome semapv:UnspecifiedMatching MONDO:0015727 mosaic trisomy 15 skos:exactMatch SCTID:764619001 semapv:UnspecifiedMatching MONDO:0015727 mosaic trisomy 15 skos:exactMatch UMLS:C2931707 semapv:UnspecifiedMatching MONDO:0015727 mosaic trisomy 15 skos:exactMatch mesh:C538037 semapv:UnspecifiedMatching MONDO:0015728 distal trisomy 15q skos:exactMatch MEDGEN:419879 semapv:UnspecifiedMatching MONDO:0015728 distal trisomy 15q skos:exactMatch Orphanet:1707 Distal duplication 15q syndrome semapv:UnspecifiedMatching MONDO:0015728 distal trisomy 15q skos:exactMatch UMLS:C2931705 semapv:UnspecifiedMatching MONDO:0015728 distal trisomy 15q skos:exactMatch mesh:C538036 semapv:UnspecifiedMatching MONDO:0015729 mosaic trisomy 16 skos:exactMatch MEDGEN:1633950 semapv:UnspecifiedMatching MONDO:0015729 mosaic trisomy 16 skos:exactMatch Orphanet:1708 Mosaic trisomy 16 syndrome semapv:UnspecifiedMatching MONDO:0015729 mosaic trisomy 16 skos:exactMatch SCTID:764621006 semapv:UnspecifiedMatching MONDO:0015729 mosaic trisomy 16 skos:exactMatch UMLS:C4707009 semapv:UnspecifiedMatching MONDO:0015729 mosaic trisomy 16 skos:exactMatch mesh:C538041 semapv:UnspecifiedMatching MONDO:0015730 mosaic trisomy 17 skos:exactMatch MEDGEN:202107 semapv:UnspecifiedMatching MONDO:0015730 mosaic trisomy 17 skos:exactMatch Orphanet:1711 Mosaic trisomy 17 syndrome semapv:UnspecifiedMatching MONDO:0015730 mosaic trisomy 17 skos:exactMatch SCTID:764622004 semapv:UnspecifiedMatching MONDO:0015730 mosaic trisomy 17 skos:exactMatch UMLS:C1096168 semapv:UnspecifiedMatching MONDO:0015730 mosaic trisomy 17 skos:exactMatch mesh:C538044 semapv:UnspecifiedMatching MONDO:0015731 high anorectal malformation skos:exactMatch MEDGEN:576820 semapv:UnspecifiedMatching MONDO:0015731 high anorectal malformation skos:exactMatch SCTID:253771003 semapv:UnspecifiedMatching MONDO:0015731 high anorectal malformation skos:exactMatch UMLS:C0345210 semapv:UnspecifiedMatching MONDO:0015731 high anorectal malformation skos:exactMatch icd11.foundation:1409973552 High anorectal malformation semapv:UnspecifiedMatching MONDO:0015732 intermediate anorectal malformation skos:exactMatch MEDGEN:1371993 semapv:UnspecifiedMatching MONDO:0015732 intermediate anorectal malformation skos:exactMatch SCTID:734024009 semapv:UnspecifiedMatching MONDO:0015732 intermediate anorectal malformation skos:exactMatch UMLS:C4518340 semapv:UnspecifiedMatching MONDO:0015732 intermediate anorectal malformation skos:exactMatch icd11.foundation:1224425167 Intermediate anorectal malformation semapv:UnspecifiedMatching MONDO:0015733 low anorectal malformation skos:exactMatch MEDGEN:473082 semapv:UnspecifiedMatching MONDO:0015733 low anorectal malformation skos:exactMatch NCIT:C98975 Low Anorectal Malformation semapv:UnspecifiedMatching MONDO:0015733 low anorectal malformation skos:exactMatch SCTID:253772005 semapv:UnspecifiedMatching MONDO:0015733 low anorectal malformation skos:exactMatch UMLS:C0345218 semapv:UnspecifiedMatching MONDO:0015733 low anorectal malformation skos:exactMatch icd11.foundation:1155202227 Low anorectal malformation semapv:UnspecifiedMatching MONDO:0015734 rectal duplication skos:exactMatch MEDGEN:1393874 semapv:UnspecifiedMatching MONDO:0015734 rectal duplication skos:exactMatch Orphanet:171220 Isolated rectal duplication semapv:UnspecifiedMatching MONDO:0015734 rectal duplication skos:exactMatch SCTID:725910009 semapv:UnspecifiedMatching MONDO:0015734 rectal duplication skos:exactMatch UMLS:C4511483 semapv:UnspecifiedMatching MONDO:0015734 rectal duplication skos:exactMatch icd11.foundation:1354283575 Rectal duplication semapv:UnspecifiedMatching MONDO:0015735 severe congenital nemaline myopathy skos:exactMatch MEDGEN:1805110 semapv:UnspecifiedMatching MONDO:0015735 severe congenital nemaline myopathy skos:exactMatch Orphanet:171430 Severe congenital nemaline myopathy semapv:UnspecifiedMatching MONDO:0015735 severe congenital nemaline myopathy skos:exactMatch UMLS:C5680451 semapv:UnspecifiedMatching MONDO:0015735 severe congenital nemaline myopathy skos:exactMatch icd11.foundation:1025202057 Severe congenital nemaline myopathy semapv:UnspecifiedMatching MONDO:0015736 intermediate nemaline myopathy skos:exactMatch MEDGEN:1803914 semapv:UnspecifiedMatching MONDO:0015736 intermediate nemaline myopathy skos:exactMatch Orphanet:171433 Intermediate nemaline myopathy semapv:UnspecifiedMatching MONDO:0015736 intermediate nemaline myopathy skos:exactMatch UMLS:C5680452 semapv:UnspecifiedMatching MONDO:0015736 intermediate nemaline myopathy skos:exactMatch icd11.foundation:1667070006 Intermediate nemaline myopathy semapv:UnspecifiedMatching MONDO:0015737 typical nemaline myopathy skos:exactMatch MEDGEN:1806265 semapv:UnspecifiedMatching MONDO:0015737 typical nemaline myopathy skos:exactMatch Orphanet:171436 Typical nemaline myopathy semapv:UnspecifiedMatching MONDO:0015737 typical nemaline myopathy skos:exactMatch UMLS:C5680453 semapv:UnspecifiedMatching MONDO:0015737 typical nemaline myopathy skos:exactMatch icd11.foundation:1105111633 Typical nemaline myopathy semapv:UnspecifiedMatching MONDO:0015738 childhood-onset nemaline myopathy skos:exactMatch MEDGEN:154265 semapv:UnspecifiedMatching MONDO:0015738 childhood-onset nemaline myopathy skos:exactMatch Orphanet:171439 Childhood-onset nemaline myopathy semapv:UnspecifiedMatching MONDO:0015738 childhood-onset nemaline myopathy skos:exactMatch UMLS:C0546125 semapv:UnspecifiedMatching MONDO:0015739 adult-onset nemaline myopathy skos:exactMatch MEDGEN:154264 semapv:UnspecifiedMatching MONDO:0015739 adult-onset nemaline myopathy skos:exactMatch Orphanet:171442 Adult-onset nemaline myopathy semapv:UnspecifiedMatching MONDO:0015739 adult-onset nemaline myopathy skos:exactMatch UMLS:C0546123 semapv:UnspecifiedMatching MONDO:0015739 adult-onset nemaline myopathy skos:exactMatch icd11.foundation:1610331066 Adult-onset nemaline myopathy semapv:UnspecifiedMatching MONDO:0015740 trisomy 18p skos:exactMatch MEDGEN:419907 semapv:UnspecifiedMatching MONDO:0015740 trisomy 18p skos:exactMatch Orphanet:1715 Trisomy 18p syndrome semapv:UnspecifiedMatching MONDO:0015740 trisomy 18p skos:exactMatch UMLS:C2931811 semapv:UnspecifiedMatching MONDO:0015740 trisomy 18p skos:exactMatch icd11.foundation:2079728626 Duplications of the short arm of chromosome 18 semapv:UnspecifiedMatching MONDO:0015740 trisomy 18p skos:exactMatch mesh:C538307 semapv:UnspecifiedMatching MONDO:0015741 distal trisomy 18q skos:exactMatch MEDGEN:1674040 semapv:UnspecifiedMatching MONDO:0015741 distal trisomy 18q skos:exactMatch Orphanet:1716 Distal duplication 18q syndrome semapv:UnspecifiedMatching MONDO:0015741 distal trisomy 18q skos:exactMatch UMLS:C5190516 semapv:UnspecifiedMatching MONDO:0015742 periventricular leukomalacia skos:exactMatch DOID:13088 periventricular leukomalacia semapv:UnspecifiedMatching MONDO:0015742 periventricular leukomalacia skos:exactMatch EFO:1001101 semapv:UnspecifiedMatching MONDO:0015742 periventricular leukomalacia skos:exactMatch MEDGEN:6072 semapv:UnspecifiedMatching MONDO:0015742 periventricular leukomalacia skos:exactMatch NCIT:C99013 Periventricular Leukomalacia semapv:UnspecifiedMatching MONDO:0015742 periventricular leukomalacia skos:exactMatch SCTID:230769007 semapv:UnspecifiedMatching MONDO:0015742 periventricular leukomalacia skos:exactMatch UMLS:C0023529 semapv:UnspecifiedMatching MONDO:0015742 periventricular leukomalacia skos:exactMatch mesh:D007969 semapv:UnspecifiedMatching MONDO:0015743 idiopathic bilateral vestibulopathy skos:exactMatch MEDGEN:1622940 semapv:UnspecifiedMatching MONDO:0015743 idiopathic bilateral vestibulopathy skos:exactMatch Orphanet:171684 Idiopathic bilateral vestibulopathy semapv:UnspecifiedMatching MONDO:0015743 idiopathic bilateral vestibulopathy skos:exactMatch SCTID:737580004 semapv:UnspecifiedMatching MONDO:0015743 idiopathic bilateral vestibulopathy skos:exactMatch UMLS:C4545229 semapv:UnspecifiedMatching MONDO:0015743 idiopathic bilateral vestibulopathy skos:exactMatch icd11.foundation:1394072237 Idiopathic bilateral vestibulopathy semapv:UnspecifiedMatching MONDO:0015744 distal trisomy 19q skos:exactMatch MEDGEN:1646863 semapv:UnspecifiedMatching MONDO:0015744 distal trisomy 19q skos:exactMatch Orphanet:1717 Distal duplication 19q syndrome semapv:UnspecifiedMatching MONDO:0015744 distal trisomy 19q skos:exactMatch SCTID:766052008 semapv:UnspecifiedMatching MONDO:0015744 distal trisomy 19q skos:exactMatch UMLS:C4707664 semapv:UnspecifiedMatching MONDO:0015745 microcephaly-polymicrogyria-corpus callosum agenesis syndrome skos:exactMatch MEDGEN:1653942 semapv:UnspecifiedMatching MONDO:0015745 microcephaly-polymicrogyria-corpus callosum agenesis syndrome skos:exactMatch Orphanet:171703 Microcephaly-polymicrogyria-corpus callosum agenesis syndrome semapv:UnspecifiedMatching MONDO:0015745 microcephaly-polymicrogyria-corpus callosum agenesis syndrome skos:exactMatch UMLS:C4750772 semapv:UnspecifiedMatching MONDO:0015746 male infertility due to globozoospermia skos:exactMatch DOID:0112312 male infertility due to globozoospermia semapv:UnspecifiedMatching MONDO:0015746 male infertility due to globozoospermia skos:exactMatch MEDGEN:1826006 semapv:UnspecifiedMatching MONDO:0015746 male infertility due to globozoospermia skos:exactMatch Orphanet:171709 Male infertility due to globozoospermia semapv:UnspecifiedMatching MONDO:0015746 male infertility due to globozoospermia skos:exactMatch UMLS:C5679591 semapv:UnspecifiedMatching MONDO:0015748 hereditary mucosal leukokeratosis skos:exactMatch DOID:0050448 white sponge nevus semapv:UnspecifiedMatching MONDO:0015748 hereditary mucosal leukokeratosis skos:exactMatch MEDGEN:328433 semapv:UnspecifiedMatching MONDO:0015748 hereditary mucosal leukokeratosis skos:exactMatch NCIT:C84760 Hereditary Leukokeratosis semapv:UnspecifiedMatching MONDO:0015748 hereditary mucosal leukokeratosis skos:exactMatch OMIMPS:193900 White sponge nevus semapv:UnspecifiedMatching MONDO:0015748 hereditary mucosal leukokeratosis skos:exactMatch Orphanet:171723 White sponge nevus semapv:UnspecifiedMatching MONDO:0015748 hereditary mucosal leukokeratosis skos:exactMatch SCTID:389203001 semapv:UnspecifiedMatching MONDO:0015748 hereditary mucosal leukokeratosis skos:exactMatch UMLS:C1721005 semapv:UnspecifiedMatching MONDO:0015748 hereditary mucosal leukokeratosis skos:exactMatch mesh:D053529 semapv:UnspecifiedMatching MONDO:0015749 6q16 deletion syndrome skos:exactMatch MEDGEN:1759989 semapv:UnspecifiedMatching MONDO:0015749 6q16 deletion syndrome skos:exactMatch Orphanet:171829 6q16 microdeletion syndrome semapv:UnspecifiedMatching MONDO:0015749 6q16 deletion syndrome skos:exactMatch UMLS:C5438727 semapv:UnspecifiedMatching MONDO:0015751 craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome skos:exactMatch MEDGEN:923699 semapv:UnspecifiedMatching MONDO:0015751 craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome skos:exactMatch Orphanet:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome semapv:UnspecifiedMatching MONDO:0015751 craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome skos:exactMatch SCTID:720815000 semapv:UnspecifiedMatching MONDO:0015751 craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome skos:exactMatch UMLS:C3267187 semapv:UnspecifiedMatching MONDO:0015753 cap myopathy skos:exactMatch MEDGEN:777197 semapv:UnspecifiedMatching MONDO:0015753 cap myopathy skos:exactMatch Orphanet:171881 Cap myopathy semapv:UnspecifiedMatching MONDO:0015753 cap myopathy skos:exactMatch SCTID:703532002 semapv:UnspecifiedMatching MONDO:0015753 cap myopathy skos:exactMatch UMLS:C3710589 semapv:UnspecifiedMatching MONDO:0015753 cap myopathy skos:exactMatch mesh:C579969 semapv:UnspecifiedMatching MONDO:0015755 myopathy with hexagonally cross-linked tubular arrays skos:exactMatch MEDGEN:1636081 semapv:UnspecifiedMatching MONDO:0015755 myopathy with hexagonally cross-linked tubular arrays skos:exactMatch Orphanet:171889 Myopathy with hexagonally cross-linked tubular arrays semapv:UnspecifiedMatching MONDO:0015755 myopathy with hexagonally cross-linked tubular arrays skos:exactMatch SCTID:764994007 semapv:UnspecifiedMatching MONDO:0015755 myopathy with hexagonally cross-linked tubular arrays skos:exactMatch UMLS:C4707259 semapv:UnspecifiedMatching MONDO:0015755 myopathy with hexagonally cross-linked tubular arrays skos:exactMatch icd11.foundation:1953170361 Myopathy with hexagonally cross-linked tubular arrays semapv:UnspecifiedMatching MONDO:0015756 myeloid hemopathy skos:exactMatch MEDGEN:1842523 semapv:UnspecifiedMatching MONDO:0015756 myeloid hemopathy skos:exactMatch Orphanet:171895 Myeloid hemopathy semapv:UnspecifiedMatching MONDO:0015756 myeloid hemopathy skos:exactMatch UMLS:C5680514 semapv:UnspecifiedMatching MONDO:0015757 lymphoid hemopathy skos:exactMatch MEDGEN:1842533 semapv:UnspecifiedMatching MONDO:0015757 lymphoid hemopathy skos:exactMatch Orphanet:171898 Lymphoid hemopathy semapv:UnspecifiedMatching MONDO:0015757 lymphoid hemopathy skos:exactMatch UMLS:C5680515 semapv:UnspecifiedMatching MONDO:0015758 primary cutaneous T-cell lymphoma skos:exactMatch MEDGEN:36336 semapv:UnspecifiedMatching MONDO:0015758 primary cutaneous T-cell lymphoma skos:exactMatch Orphanet:171901 Primary cutaneous T-cell lymphoma semapv:UnspecifiedMatching MONDO:0015758 primary cutaneous T-cell lymphoma skos:exactMatch UMLS:C0079773 semapv:UnspecifiedMatching MONDO:0015759 B-cell non-Hodgkin lymphoma skos:exactMatch EFO:1001938 semapv:UnspecifiedMatching MONDO:0015759 B-cell non-Hodgkin lymphoma skos:exactMatch NCIT:C3457 B-Cell Non-Hodgkin Lymphoma semapv:UnspecifiedMatching MONDO:0015759 B-cell non-Hodgkin lymphoma skos:exactMatch Orphanet:171915 B-cell non-Hodgkin lymphoma semapv:UnspecifiedMatching MONDO:0015760 T-cell non-Hodgkin lymphoma skos:exactMatch DOID:0081312 T-cell non-Hodgkin lymphoma semapv:UnspecifiedMatching MONDO:0015760 T-cell non-Hodgkin lymphoma skos:exactMatch MEDGEN:86957 semapv:UnspecifiedMatching MONDO:0015760 T-cell non-Hodgkin lymphoma skos:exactMatch NCIT:C3466 T-Cell Non-Hodgkin Lymphoma semapv:UnspecifiedMatching MONDO:0015760 T-cell non-Hodgkin lymphoma skos:exactMatch Orphanet:171918 T-cell non-Hodgkin lymphoma semapv:UnspecifiedMatching MONDO:0015760 T-cell non-Hodgkin lymphoma skos:exactMatch SCTID:109978004 semapv:UnspecifiedMatching MONDO:0015760 T-cell non-Hodgkin lymphoma skos:exactMatch UMLS:C0079772 semapv:UnspecifiedMatching MONDO:0015760 T-cell non-Hodgkin lymphoma skos:exactMatch mesh:D016399 semapv:UnspecifiedMatching MONDO:0015761 trisomy 10p skos:exactMatch MEDGEN:904688 semapv:UnspecifiedMatching MONDO:0015761 trisomy 10p skos:exactMatch Orphanet:171929 Trisomy 10p syndrome semapv:UnspecifiedMatching MONDO:0015761 trisomy 10p skos:exactMatch SCTID:717157006 semapv:UnspecifiedMatching MONDO:0015761 trisomy 10p skos:exactMatch UMLS:C4082793 semapv:UnspecifiedMatching MONDO:0015761 trisomy 10p skos:exactMatch mesh:C538290 semapv:UnspecifiedMatching MONDO:0015762 progressive familial intrahepatic cholestasis skos:exactMatch DOID:0070221 progressive familial intrahepatic cholestasis semapv:UnspecifiedMatching MONDO:0015762 progressive familial intrahepatic cholestasis skos:exactMatch MEDGEN:75668 semapv:UnspecifiedMatching MONDO:0015762 progressive familial intrahepatic cholestasis skos:exactMatch NCIT:C84453 Progressive Familial Intrahepatic Cholestasis semapv:UnspecifiedMatching MONDO:0015762 progressive familial intrahepatic cholestasis skos:exactMatch OMIMPS:211600 Cholestasis, progressive familial intrahepatic semapv:UnspecifiedMatching MONDO:0015762 progressive familial intrahepatic cholestasis skos:exactMatch Orphanet:172 Progressive familial intrahepatic cholestasis semapv:UnspecifiedMatching MONDO:0015762 progressive familial intrahepatic cholestasis skos:exactMatch UMLS:C0268312 semapv:UnspecifiedMatching MONDO:0015762 progressive familial intrahepatic cholestasis skos:exactMatch icd11.foundation:1457142642 Progressive familial intrahepatic cholestasis semapv:UnspecifiedMatching MONDO:0015763 mosaic trisomy 2 skos:exactMatch MEDGEN:1631294 semapv:UnspecifiedMatching MONDO:0015763 mosaic trisomy 2 skos:exactMatch Orphanet:1723 Mosaic trisomy 2 syndrome semapv:UnspecifiedMatching MONDO:0015763 mosaic trisomy 2 skos:exactMatch SCTID:764623009 semapv:UnspecifiedMatching MONDO:0015763 mosaic trisomy 2 skos:exactMatch UMLS:C4707010 semapv:UnspecifiedMatching MONDO:0015764 mosaic trisomy 20 skos:exactMatch MEDGEN:1876689 semapv:UnspecifiedMatching MONDO:0015764 mosaic trisomy 20 skos:exactMatch Orphanet:1724 Mosaic trisomy 20 syndrome semapv:UnspecifiedMatching MONDO:0015764 mosaic trisomy 20 skos:exactMatch UMLS:C5979884 semapv:UnspecifiedMatching MONDO:0015765 obsolete congenital myopathy with cores skos:exactMatch Orphanet:172976 Congenital myopathy with cores semapv:UnspecifiedMatching MONDO:0015766 cholera skos:exactMatch DOID:1498 cholera semapv:UnspecifiedMatching MONDO:0015766 cholera skos:exactMatch ICD10CM:A00 Cholera semapv:UnspecifiedMatching MONDO:0015766 cholera skos:exactMatch ICD10WHO:A00 Cholera semapv:UnspecifiedMatching MONDO:0015766 cholera skos:exactMatch MEDGEN:40263 semapv:UnspecifiedMatching MONDO:0015766 cholera skos:exactMatch NCIT:C157812 Cholera semapv:UnspecifiedMatching MONDO:0015766 cholera skos:exactMatch Orphanet:173 Cholera semapv:UnspecifiedMatching MONDO:0015766 cholera skos:exactMatch SCTID:63650001 semapv:UnspecifiedMatching MONDO:0015766 cholera skos:exactMatch UMLS:C0008354 semapv:UnspecifiedMatching MONDO:0015766 cholera skos:exactMatch icd11.foundation:257068234 Cholera semapv:UnspecifiedMatching MONDO:0015766 cholera skos:exactMatch mesh:D002771 semapv:UnspecifiedMatching MONDO:0015767 trisomy 4p skos:exactMatch MEDGEN:419836 semapv:UnspecifiedMatching MONDO:0015767 trisomy 4p skos:exactMatch Orphanet:1738 Trisomy 4p syndrome semapv:UnspecifiedMatching MONDO:0015767 trisomy 4p skos:exactMatch UMLS:C2931571 semapv:UnspecifiedMatching MONDO:0015767 trisomy 4p skos:exactMatch mesh:C537643 semapv:UnspecifiedMatching MONDO:0015768 trisomy 5p skos:exactMatch MEDGEN:1672500 semapv:UnspecifiedMatching MONDO:0015768 trisomy 5p skos:exactMatch Orphanet:1742 Trisomy 5p syndrome semapv:UnspecifiedMatching MONDO:0015768 trisomy 5p skos:exactMatch UMLS:C0812464 semapv:UnspecifiedMatching MONDO:0015769 distal trisomy 6p skos:exactMatch MEDGEN:928220 semapv:UnspecifiedMatching MONDO:0015769 distal trisomy 6p skos:exactMatch Orphanet:1745 Distal duplication 6p syndrome semapv:UnspecifiedMatching MONDO:0015769 distal trisomy 6p skos:exactMatch SCTID:722430008 semapv:UnspecifiedMatching MONDO:0015769 distal trisomy 6p skos:exactMatch UMLS:C4302551 semapv:UnspecifiedMatching MONDO:0015770 congenital hypogonadotropic hypogonadism skos:exactMatch MEDGEN:859097 semapv:UnspecifiedMatching MONDO:0015770 congenital hypogonadotropic hypogonadism skos:exactMatch NCIT:C120162 Congenital Hypogonadotropic Hypogonadism semapv:UnspecifiedMatching MONDO:0015770 congenital hypogonadotropic hypogonadism skos:exactMatch Orphanet:174590 Congenital hypogonadotropic hypogonadism semapv:UnspecifiedMatching MONDO:0015770 congenital hypogonadotropic hypogonadism skos:exactMatch SCTID:722944006 semapv:UnspecifiedMatching MONDO:0015770 congenital hypogonadotropic hypogonadism skos:exactMatch UMLS:C3899503 semapv:UnspecifiedMatching MONDO:0015770 congenital hypogonadotropic hypogonadism skos:exactMatch icd11.foundation:1752075408 Congenital hypogonadotropic hypogonadism semapv:UnspecifiedMatching MONDO:0015771 mosaic trisomy 7 skos:exactMatch MEDGEN:419125 semapv:UnspecifiedMatching MONDO:0015771 mosaic trisomy 7 skos:exactMatch Orphanet:1747 Mosaic trisomy 7 syndrome semapv:UnspecifiedMatching MONDO:0015771 mosaic trisomy 7 skos:exactMatch SCTID:764630003 semapv:UnspecifiedMatching MONDO:0015771 mosaic trisomy 7 skos:exactMatch UMLS:C2931631 semapv:UnspecifiedMatching MONDO:0015771 mosaic trisomy 7 skos:exactMatch mesh:C537822 semapv:UnspecifiedMatching MONDO:0015772 trisomy 8q skos:exactMatch MEDGEN:162775 semapv:UnspecifiedMatching MONDO:0015772 trisomy 8q skos:exactMatch Orphanet:1752 Trisomy 8q syndrome semapv:UnspecifiedMatching MONDO:0015772 trisomy 8q skos:exactMatch UMLS:C0795829 semapv:UnspecifiedMatching MONDO:0015772 trisomy 8q skos:exactMatch icd11.foundation:573390171 8q duplication semapv:UnspecifiedMatching MONDO:0015772 trisomy 8q skos:exactMatch mesh:C538020 semapv:UnspecifiedMatching MONDO:0015773 fibular dimelia-diplopodia syndrome skos:exactMatch MEDGEN:929427 semapv:UnspecifiedMatching MONDO:0015773 fibular dimelia-diplopodia syndrome skos:exactMatch Orphanet:1757 Fibular dimelia-diplopodia syndrome semapv:UnspecifiedMatching MONDO:0015773 fibular dimelia-diplopodia syndrome skos:exactMatch SCTID:720953006 semapv:UnspecifiedMatching MONDO:0015773 fibular dimelia-diplopodia syndrome skos:exactMatch UMLS:C4303758 semapv:UnspecifiedMatching MONDO:0015774 thoraco-abdominal enteric duplication skos:exactMatch MEDGEN:1372227 semapv:UnspecifiedMatching MONDO:0015774 thoraco-abdominal enteric duplication skos:exactMatch Orphanet:1759 Thoraco-abdominal enteric duplication semapv:UnspecifiedMatching MONDO:0015774 thoraco-abdominal enteric duplication skos:exactMatch SCTID:733628001 semapv:UnspecifiedMatching MONDO:0015774 thoraco-abdominal enteric duplication skos:exactMatch UMLS:C4518084 semapv:UnspecifiedMatching MONDO:0015774 thoraco-abdominal enteric duplication skos:exactMatch icd11.foundation:1267632171 Thoraco-abdominal enteric duplication semapv:UnspecifiedMatching MONDO:0015775 non-rhizomelic chondrodysplasia punctata skos:exactMatch MEDGEN:1842643 semapv:UnspecifiedMatching MONDO:0015775 non-rhizomelic chondrodysplasia punctata skos:exactMatch Orphanet:176 Non-rhizomelic chondrodysplasia punctata semapv:UnspecifiedMatching MONDO:0015775 non-rhizomelic chondrodysplasia punctata skos:exactMatch UMLS:C5681009 semapv:UnspecifiedMatching MONDO:0015776 rhizomelic chondrodysplasia punctata skos:exactMatch DOID:2580 rhizomelic chondrodysplasia punctata semapv:UnspecifiedMatching MONDO:0015776 rhizomelic chondrodysplasia punctata skos:exactMatch ICD10CM:E71.540 Rhizomelic chondrodysplasia punctata semapv:UnspecifiedMatching MONDO:0015776 rhizomelic chondrodysplasia punctata skos:exactMatch MEDGEN:79471 semapv:UnspecifiedMatching MONDO:0015776 rhizomelic chondrodysplasia punctata skos:exactMatch NCIT:C85047 Rhizomelic Chondrodysplasia Punctata semapv:UnspecifiedMatching MONDO:0015776 rhizomelic chondrodysplasia punctata skos:exactMatch OMIMPS:215100 Rhizomelic chondrodysplasia punctata semapv:UnspecifiedMatching MONDO:0015776 rhizomelic chondrodysplasia punctata skos:exactMatch Orphanet:177 Rhizomelic chondrodysplasia punctata semapv:UnspecifiedMatching MONDO:0015776 rhizomelic chondrodysplasia punctata skos:exactMatch SCTID:56692003 semapv:UnspecifiedMatching MONDO:0015776 rhizomelic chondrodysplasia punctata skos:exactMatch UMLS:C0282529 semapv:UnspecifiedMatching MONDO:0015776 rhizomelic chondrodysplasia punctata skos:exactMatch icd11.foundation:260357080 Rhizomelic chondrodysplasia punctata semapv:UnspecifiedMatching MONDO:0015776 rhizomelic chondrodysplasia punctata skos:exactMatch mesh:D018902 semapv:UnspecifiedMatching MONDO:0015777 obsolete adult hypothyroidism skos:exactMatch Orphanet:177101 Rare adult hypothyroidism semapv:UnspecifiedMatching MONDO:0015778 obsolete syndromic hypothyroidism skos:exactMatch Orphanet:177107 Syndromic hypothyroidism semapv:UnspecifiedMatching MONDO:0015779 45,X/46,XY mixed gonadal dysgenesis skos:exactMatch DOID:0080656 45,X/46,XY mixed gonadal dysgenesis semapv:UnspecifiedMatching MONDO:0015779 45,X/46,XY mixed gonadal dysgenesis skos:exactMatch NCIT:C120199 45,X/46,XY Mixed Gonadal Dysgenesis semapv:UnspecifiedMatching MONDO:0015779 45,X/46,XY mixed gonadal dysgenesis skos:exactMatch Orphanet:1772 45,X/46,XY mixed gonadal dysgenesis semapv:UnspecifiedMatching MONDO:0015780 dyskeratosis congenita skos:exactMatch DOID:2729 dyskeratosis congenita semapv:UnspecifiedMatching MONDO:0015780 dyskeratosis congenita skos:exactMatch MEDGEN:78580 semapv:UnspecifiedMatching MONDO:0015780 dyskeratosis congenita skos:exactMatch NCIT:C111802 Dyskeratosis Congenita semapv:UnspecifiedMatching MONDO:0015780 dyskeratosis congenita skos:exactMatch OMIMPS:127550 Dyskeratosis congenita semapv:UnspecifiedMatching MONDO:0015780 dyskeratosis congenita skos:exactMatch Orphanet:1775 Dyskeratosis congenita semapv:UnspecifiedMatching MONDO:0015780 dyskeratosis congenita skos:exactMatch SCTID:74911008 semapv:UnspecifiedMatching MONDO:0015780 dyskeratosis congenita skos:exactMatch UMLS:C0265965 semapv:UnspecifiedMatching MONDO:0015780 dyskeratosis congenita skos:exactMatch icd11.foundation:1531033936 Dyskeratosis congenita semapv:UnspecifiedMatching MONDO:0015780 dyskeratosis congenita skos:exactMatch mesh:D019871 semapv:UnspecifiedMatching MONDO:0015781 facial dysmorphism-shawl scrotum-joint laxity syndrome skos:exactMatch MEDGEN:419099 semapv:UnspecifiedMatching MONDO:0015781 facial dysmorphism-shawl scrotum-joint laxity syndrome skos:exactMatch Orphanet:1778 Facial dysmorphism-shawl scrotum-joint laxity syndrome semapv:UnspecifiedMatching MONDO:0015781 facial dysmorphism-shawl scrotum-joint laxity syndrome skos:exactMatch SCTID:716337006 semapv:UnspecifiedMatching MONDO:0015781 facial dysmorphism-shawl scrotum-joint laxity syndrome skos:exactMatch UMLS:C2931522 semapv:UnspecifiedMatching MONDO:0015781 facial dysmorphism-shawl scrotum-joint laxity syndrome skos:exactMatch mesh:C537529 semapv:UnspecifiedMatching MONDO:0015782 dysmorphism-cleft palate-loose skin syndrome skos:exactMatch MEDGEN:1642311 semapv:UnspecifiedMatching MONDO:0015782 dysmorphism-cleft palate-loose skin syndrome skos:exactMatch Orphanet:1779 Dysmorphism-cleft palate-loose skin syndrome semapv:UnspecifiedMatching MONDO:0015782 dysmorphism-cleft palate-loose skin syndrome skos:exactMatch UMLS:C4706366 semapv:UnspecifiedMatching MONDO:0015783 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 skos:exactMatch MEDGEN:1826083 semapv:UnspecifiedMatching MONDO:0015783 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 skos:exactMatch Orphanet:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 semapv:UnspecifiedMatching MONDO:0015783 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 skos:exactMatch UMLS:C5680507 semapv:UnspecifiedMatching MONDO:0015784 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 skos:exactMatch MEDGEN:1826084 semapv:UnspecifiedMatching MONDO:0015784 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 skos:exactMatch Orphanet:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 semapv:UnspecifiedMatching MONDO:0015784 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 skos:exactMatch UMLS:C5680508 semapv:UnspecifiedMatching MONDO:0015785 Prader-Willi syndrome due to translocation skos:exactMatch MEDGEN:1826085 semapv:UnspecifiedMatching MONDO:0015785 Prader-Willi syndrome due to translocation skos:exactMatch Orphanet:177907 Prader-Willi syndrome due to translocation semapv:UnspecifiedMatching MONDO:0015785 Prader-Willi syndrome due to translocation skos:exactMatch UMLS:C5680509 semapv:UnspecifiedMatching MONDO:0015786 Prader-Willi syndrome due to imprinting mutation skos:exactMatch MEDGEN:1826086 semapv:UnspecifiedMatching MONDO:0015786 Prader-Willi syndrome due to imprinting mutation skos:exactMatch Orphanet:177910 Prader-Willi syndrome due to imprinting mutation semapv:UnspecifiedMatching MONDO:0015786 Prader-Willi syndrome due to imprinting mutation skos:exactMatch UMLS:C5680510 semapv:UnspecifiedMatching MONDO:0015787 symptomatic form of hemophilia A in female carriers skos:exactMatch MEDGEN:1843218 semapv:UnspecifiedMatching MONDO:0015787 symptomatic form of hemophilia A in female carriers skos:exactMatch Orphanet:177926 Bleeding disorder in hemophilia A carriers semapv:UnspecifiedMatching MONDO:0015787 symptomatic form of hemophilia A in female carriers skos:exactMatch UMLS:C5680504 semapv:UnspecifiedMatching MONDO:0015788 symptomatic form of hemophilia B in female carriers skos:exactMatch MEDGEN:1843014 semapv:UnspecifiedMatching MONDO:0015788 symptomatic form of hemophilia B in female carriers skos:exactMatch Orphanet:177929 Bleeding disorder in hemophilia B carriers semapv:UnspecifiedMatching MONDO:0015788 symptomatic form of hemophilia B in female carriers skos:exactMatch UMLS:C5680505 semapv:UnspecifiedMatching MONDO:0015789 obsolete non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations skos:exactMatch Orphanet:178025 Non-acquired combined pituitary hormone deficiencies without extrapituitary malformations semapv:UnspecifiedMatching MONDO:0015790 central diabetes insipidus skos:exactMatch DOID:0081055 central diabetes insipidus semapv:UnspecifiedMatching MONDO:0015790 central diabetes insipidus skos:exactMatch MEDGEN:146919 semapv:UnspecifiedMatching MONDO:0015790 central diabetes insipidus skos:exactMatch Orphanet:178029 Arginine vasopressin deficiency semapv:UnspecifiedMatching MONDO:0015790 central diabetes insipidus skos:exactMatch UMLS:C0687720 semapv:UnspecifiedMatching MONDO:0015790 central diabetes insipidus skos:exactMatch icd11.foundation:1009553897 Central diabetes insipidus semapv:UnspecifiedMatching MONDO:0015791 peripheral precocious puberty skos:exactMatch MEDGEN:1842596 semapv:UnspecifiedMatching MONDO:0015791 peripheral precocious puberty skos:exactMatch Orphanet:178040 Rare peripheral precocious puberty semapv:UnspecifiedMatching MONDO:0015791 peripheral precocious puberty skos:exactMatch SCTID:736606009 semapv:UnspecifiedMatching MONDO:0015791 peripheral precocious puberty skos:exactMatch UMLS:C5680513 semapv:UnspecifiedMatching MONDO:0015791 peripheral precocious puberty skos:exactMatch icd11.foundation:1495024153 Peripheral precocious puberty semapv:UnspecifiedMatching MONDO:0015792 transient congenital hypothyroidism skos:exactMatch MEDGEN:820541 semapv:UnspecifiedMatching MONDO:0015792 transient congenital hypothyroidism skos:exactMatch NCIT:C113171 Transient Hypothyroxinemia of Prematurity semapv:UnspecifiedMatching MONDO:0015792 transient congenital hypothyroidism skos:exactMatch Orphanet:178045 Transient congenital hypothyroidism semapv:UnspecifiedMatching MONDO:0015792 transient congenital hypothyroidism skos:exactMatch SCTID:119181000119104 semapv:UnspecifiedMatching MONDO:0015792 transient congenital hypothyroidism skos:exactMatch UMLS:C3827793 semapv:UnspecifiedMatching MONDO:0015792 transient congenital hypothyroidism skos:exactMatch icd11.foundation:592246939 Transient congenital hypothyroidism semapv:UnspecifiedMatching MONDO:0015793 moderate multiminicore disease with hand involvement skos:exactMatch MEDGEN:396213 semapv:UnspecifiedMatching MONDO:0015793 moderate multiminicore disease with hand involvement skos:exactMatch Orphanet:178145 Moderate multiminicore disease with hand involvement semapv:UnspecifiedMatching MONDO:0015793 moderate multiminicore disease with hand involvement skos:exactMatch UMLS:C1861753 semapv:UnspecifiedMatching MONDO:0015794 antenatal multiminicore disease with arthrogryposis multiplex congenita skos:exactMatch MEDGEN:334470 semapv:UnspecifiedMatching MONDO:0015794 antenatal multiminicore disease with arthrogryposis multiplex congenita skos:exactMatch Orphanet:178148 Antenatal multiminicore disease with arthrogryposis multiplex congenita semapv:UnspecifiedMatching MONDO:0015794 antenatal multiminicore disease with arthrogryposis multiplex congenita skos:exactMatch UMLS:C1843691 semapv:UnspecifiedMatching MONDO:0015795 undifferentiated embryonal sarcoma of the liver skos:exactMatch MEDGEN:902204 semapv:UnspecifiedMatching MONDO:0015795 undifferentiated embryonal sarcoma of the liver skos:exactMatch Orphanet:178315 Undifferentiated embryonal sarcoma of the liver semapv:UnspecifiedMatching MONDO:0015795 undifferentiated embryonal sarcoma of the liver skos:exactMatch SCTID:716648006 semapv:UnspecifiedMatching MONDO:0015795 undifferentiated embryonal sarcoma of the liver skos:exactMatch UMLS:C2205345 semapv:UnspecifiedMatching MONDO:0015796 acute lung injury skos:exactMatch EFO:0004610 semapv:UnspecifiedMatching MONDO:0015796 acute lung injury skos:exactMatch NCIT:C155766 Acute Lung Injury semapv:UnspecifiedMatching MONDO:0015796 acute lung injury skos:exactMatch Orphanet:178320 Acute lung injury semapv:UnspecifiedMatching MONDO:0015796 acute lung injury skos:exactMatch SCTID:315345002 semapv:UnspecifiedMatching MONDO:0015796 acute lung injury skos:exactMatch mesh:D055371 semapv:UnspecifiedMatching MONDO:0015797 UV-sensitive syndrome skos:exactMatch DOID:0060240 UV-sensitive syndrome semapv:UnspecifiedMatching MONDO:0015797 UV-sensitive syndrome skos:exactMatch MEDGEN:322222 semapv:UnspecifiedMatching MONDO:0015797 UV-sensitive syndrome skos:exactMatch OMIMPS:600630 UV-sensitive syndrome semapv:UnspecifiedMatching MONDO:0015797 UV-sensitive syndrome skos:exactMatch Orphanet:178338 UV-sensitive syndrome semapv:UnspecifiedMatching MONDO:0015797 UV-sensitive syndrome skos:exactMatch SCTID:698253007 semapv:UnspecifiedMatching MONDO:0015797 UV-sensitive syndrome skos:exactMatch UMLS:C1833561 semapv:UnspecifiedMatching MONDO:0015797 UV-sensitive syndrome skos:exactMatch mesh:C563466 semapv:UnspecifiedMatching MONDO:0015798 inflammatory myofibroblastic tumor skos:exactMatch DOID:0050905 inflammatory myofibroblastic tumor semapv:UnspecifiedMatching MONDO:0015798 inflammatory myofibroblastic tumor skos:exactMatch MEDGEN:137723 semapv:UnspecifiedMatching MONDO:0015798 inflammatory myofibroblastic tumor skos:exactMatch NCIT:C6481 Inflammatory Myofibroblastic Tumor semapv:UnspecifiedMatching MONDO:0015798 inflammatory myofibroblastic tumor skos:exactMatch Orphanet:178342 Inflammatory myofibroblastic tumor semapv:UnspecifiedMatching MONDO:0015798 inflammatory myofibroblastic tumor skos:exactMatch UMLS:C0334121 semapv:UnspecifiedMatching MONDO:0015798 inflammatory myofibroblastic tumor skos:exactMatch mesh:D006104 semapv:UnspecifiedMatching MONDO:0015799 Smith-McCort dysplasia skos:exactMatch DOID:0060247 Smith-McCort dysplasia semapv:UnspecifiedMatching MONDO:0015799 Smith-McCort dysplasia skos:exactMatch MEDGEN:375887 semapv:UnspecifiedMatching MONDO:0015799 Smith-McCort dysplasia skos:exactMatch OMIMPS:607326 Smith-McCort dysplasia semapv:UnspecifiedMatching MONDO:0015799 Smith-McCort dysplasia skos:exactMatch Orphanet:178355 Smith-McCort dysplasia semapv:UnspecifiedMatching MONDO:0015799 Smith-McCort dysplasia skos:exactMatch SCTID:715862006 semapv:UnspecifiedMatching MONDO:0015799 Smith-McCort dysplasia skos:exactMatch UMLS:C1846431 semapv:UnspecifiedMatching MONDO:0015799 Smith-McCort dysplasia skos:exactMatch icd11.foundation:1800275830 Smith-McCort dysplasia semapv:UnspecifiedMatching MONDO:0015799 Smith-McCort dysplasia skos:exactMatch mesh:C564589 semapv:UnspecifiedMatching MONDO:0015800 osteosclerosis-developmental delay-craniosynostosis syndrome skos:exactMatch MEDGEN:928487 semapv:UnspecifiedMatching MONDO:0015800 osteosclerosis-developmental delay-craniosynostosis syndrome skos:exactMatch Orphanet:178377 Osteosclerosis-developmental delay-craniosynostosis syndrome semapv:UnspecifiedMatching MONDO:0015800 osteosclerosis-developmental delay-craniosynostosis syndrome skos:exactMatch SCTID:722117000 semapv:UnspecifiedMatching MONDO:0015800 osteosclerosis-developmental delay-craniosynostosis syndrome skos:exactMatch UMLS:C4302818 semapv:UnspecifiedMatching MONDO:0015801 hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation skos:exactMatch MEDGEN:1675899 semapv:UnspecifiedMatching MONDO:0015801 hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation skos:exactMatch Orphanet:178396 Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation semapv:UnspecifiedMatching MONDO:0015801 hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation skos:exactMatch UMLS:C5190706 semapv:UnspecifiedMatching MONDO:0015801 hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation skos:exactMatch icd11.foundation:59972355 Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation semapv:UnspecifiedMatching MONDO:0015802 autosomal dominant non-syndromic intellectual disability skos:exactMatch DOID:0060307 autosomal dominant intellectual developmental disorder semapv:UnspecifiedMatching MONDO:0015802 autosomal dominant non-syndromic intellectual disability skos:exactMatch MEDGEN:1826082 semapv:UnspecifiedMatching MONDO:0015802 autosomal dominant non-syndromic intellectual disability skos:exactMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:UnspecifiedMatching MONDO:0015802 autosomal dominant non-syndromic intellectual disability skos:exactMatch UMLS:C5680502 semapv:UnspecifiedMatching MONDO:0015803 wound botulism skos:exactMatch DOID:0050353 wound botulism semapv:UnspecifiedMatching MONDO:0015803 wound botulism skos:exactMatch ICD10CM:A48.52 Wound botulism semapv:UnspecifiedMatching MONDO:0015803 wound botulism skos:exactMatch MEDGEN:224933 semapv:UnspecifiedMatching MONDO:0015803 wound botulism skos:exactMatch NCIT:C128342 Wound Botulism semapv:UnspecifiedMatching MONDO:0015803 wound botulism skos:exactMatch Orphanet:178475 Wound botulism semapv:UnspecifiedMatching MONDO:0015803 wound botulism skos:exactMatch SCTID:398530003 semapv:UnspecifiedMatching MONDO:0015803 wound botulism skos:exactMatch UMLS:C1306794 semapv:UnspecifiedMatching MONDO:0015803 wound botulism skos:exactMatch icd11.foundation:1674998448 Wound botulism semapv:UnspecifiedMatching MONDO:0015804 infant botulism skos:exactMatch DOID:0050354 infant botulism semapv:UnspecifiedMatching MONDO:0015804 infant botulism skos:exactMatch ICD10CM:A48.51 Infant botulism semapv:UnspecifiedMatching MONDO:0015804 infant botulism skos:exactMatch MEDGEN:68649 semapv:UnspecifiedMatching MONDO:0015804 infant botulism skos:exactMatch NCIT:C128343 Infant Botulism semapv:UnspecifiedMatching MONDO:0015804 infant botulism skos:exactMatch Orphanet:178478 Infant botulism semapv:UnspecifiedMatching MONDO:0015804 infant botulism skos:exactMatch SCTID:414488002 semapv:UnspecifiedMatching MONDO:0015804 infant botulism skos:exactMatch UMLS:C0238027 semapv:UnspecifiedMatching MONDO:0015805 intestinal botulism skos:exactMatch DOID:0050141 intestinal botulism semapv:UnspecifiedMatching MONDO:0015805 intestinal botulism skos:exactMatch MEDGEN:731170 semapv:UnspecifiedMatching MONDO:0015805 intestinal botulism skos:exactMatch Orphanet:178481 Intestinal botulism semapv:UnspecifiedMatching MONDO:0015805 intestinal botulism skos:exactMatch SCTID:409563004 semapv:UnspecifiedMatching MONDO:0015805 intestinal botulism skos:exactMatch UMLS:C1443901 semapv:UnspecifiedMatching MONDO:0015806 adult intestinal botulism skos:exactMatch MEDGEN:927523 semapv:UnspecifiedMatching MONDO:0015806 adult intestinal botulism skos:exactMatch NCIT:C128344 Adult Intestinal Botulism semapv:UnspecifiedMatching MONDO:0015806 adult intestinal botulism skos:exactMatch Orphanet:178487 Adult intestinal botulism semapv:UnspecifiedMatching MONDO:0015806 adult intestinal botulism skos:exactMatch UMLS:C4289991 semapv:UnspecifiedMatching MONDO:0015806 adult intestinal botulism skos:exactMatch icd11.foundation:1601222948 Adult intestinal botulism semapv:UnspecifiedMatching MONDO:0015807 myopic macular degeneration skos:exactMatch EFO:0009201 semapv:UnspecifiedMatching MONDO:0015807 myopic macular degeneration skos:exactMatch MEDGEN:676480 semapv:UnspecifiedMatching MONDO:0015807 myopic macular degeneration skos:exactMatch SCTID:312898002 semapv:UnspecifiedMatching MONDO:0015807 myopic macular degeneration skos:exactMatch UMLS:C0730271 semapv:UnspecifiedMatching MONDO:0015808 folliculotropic mycosis fungoides skos:exactMatch MEDGEN:302080 semapv:UnspecifiedMatching MONDO:0015808 folliculotropic mycosis fungoides skos:exactMatch NCIT:C35685 Folliculotropic Mycosis Fungoides semapv:UnspecifiedMatching MONDO:0015808 folliculotropic mycosis fungoides skos:exactMatch Orphanet:178512 Folliculotropic mycosis fungoides semapv:UnspecifiedMatching MONDO:0015808 folliculotropic mycosis fungoides skos:exactMatch SCTID:404109006 semapv:UnspecifiedMatching MONDO:0015808 folliculotropic mycosis fungoides skos:exactMatch UMLS:C1627767 semapv:UnspecifiedMatching MONDO:0015808 folliculotropic mycosis fungoides skos:exactMatch icd11.foundation:1335995469 Folliculotropic mycosis fungoides semapv:UnspecifiedMatching MONDO:0015809 localized pagetoid reticulosis skos:exactMatch MEDGEN:699349 semapv:UnspecifiedMatching MONDO:0015809 localized pagetoid reticulosis skos:exactMatch NCIT:C35794 Pagetoid Reticulosis semapv:UnspecifiedMatching MONDO:0015809 localized pagetoid reticulosis skos:exactMatch Orphanet:178517 Localized pagetoid reticulosis semapv:UnspecifiedMatching MONDO:0015809 localized pagetoid reticulosis skos:exactMatch SCTID:404120006 semapv:UnspecifiedMatching MONDO:0015809 localized pagetoid reticulosis skos:exactMatch UMLS:C1276140 semapv:UnspecifiedMatching MONDO:0015809 localized pagetoid reticulosis skos:exactMatch mesh:D056267 semapv:UnspecifiedMatching MONDO:0015810 primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma skos:exactMatch MEDGEN:1842165 semapv:UnspecifiedMatching MONDO:0015810 primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma skos:exactMatch Orphanet:178522 Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma semapv:UnspecifiedMatching MONDO:0015810 primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma skos:exactMatch UMLS:C5680503 semapv:UnspecifiedMatching MONDO:0015811 primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma skos:exactMatch MEDGEN:1388716 semapv:UnspecifiedMatching MONDO:0015811 primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma skos:exactMatch NCIT:C45339 Primary Cutaneous CD8-Positive Aggressive Epidermotropic Cytotoxic T-Cell Lymphoma semapv:UnspecifiedMatching MONDO:0015811 primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma skos:exactMatch Orphanet:178528 Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma semapv:UnspecifiedMatching MONDO:0015811 primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma skos:exactMatch SCTID:765136002 semapv:UnspecifiedMatching MONDO:0015811 primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma skos:exactMatch UMLS:C4518232 semapv:UnspecifiedMatching MONDO:0015812 primary cutaneous gamma/delta-positive T-cell lymphoma skos:exactMatch Orphanet:178533 Primary cutaneous gamma/delta-positive T-cell lymphoma semapv:UnspecifiedMatching MONDO:0015813 primary cutaneous marginal zone B-cell lymphoma skos:exactMatch MEDGEN:698594 semapv:UnspecifiedMatching MONDO:0015813 primary cutaneous marginal zone B-cell lymphoma skos:exactMatch NCIT:C7230 Primary Cutaneous Marginal Zone Lymphoproliferative Disorder semapv:UnspecifiedMatching MONDO:0015813 primary cutaneous marginal zone B-cell lymphoma skos:exactMatch Orphanet:178536 Primary cutaneous marginal zone B-cell lymphoma semapv:UnspecifiedMatching MONDO:0015813 primary cutaneous marginal zone B-cell lymphoma skos:exactMatch SCTID:404140004 semapv:UnspecifiedMatching MONDO:0015813 primary cutaneous marginal zone B-cell lymphoma skos:exactMatch UMLS:C1275321 semapv:UnspecifiedMatching MONDO:0015814 primary cutaneous follicle center lymphoma skos:exactMatch ICD10CM:C82.6 Cutaneous follicle center lymphoma semapv:UnspecifiedMatching MONDO:0015814 primary cutaneous follicle center lymphoma skos:exactMatch MEDGEN:234180 semapv:UnspecifiedMatching MONDO:0015814 primary cutaneous follicle center lymphoma skos:exactMatch NCIT:C7217 Primary Cutaneous Follicle Center Lymphoma semapv:UnspecifiedMatching MONDO:0015814 primary cutaneous follicle center lymphoma skos:exactMatch Orphanet:178540 Primary cutaneous follicle center lymphoma semapv:UnspecifiedMatching MONDO:0015814 primary cutaneous follicle center lymphoma skos:exactMatch SCTID:404143002 semapv:UnspecifiedMatching MONDO:0015814 primary cutaneous follicle center lymphoma skos:exactMatch UMLS:C1333171 semapv:UnspecifiedMatching MONDO:0015814 primary cutaneous follicle center lymphoma skos:exactMatch icd11.foundation:77501812 Primary cutaneous follicle centre lymphoma semapv:UnspecifiedMatching MONDO:0015816 indolent primary cutaneous T-cell lymphoma skos:exactMatch MEDGEN:1843370 semapv:UnspecifiedMatching MONDO:0015816 indolent primary cutaneous T-cell lymphoma skos:exactMatch Orphanet:178548 Indolent primary cutaneous T-cell lymphoma semapv:UnspecifiedMatching MONDO:0015816 indolent primary cutaneous T-cell lymphoma skos:exactMatch UMLS:C5680498 semapv:UnspecifiedMatching MONDO:0015817 obsolete aggressive primary cutaneous T-cell lymphoma skos:exactMatch Orphanet:178551 Aggressive primary cutaneous T-cell lymphoma semapv:UnspecifiedMatching MONDO:0015818 obsolete aggressive primary cutaneous B-cell lymphoma skos:exactMatch Orphanet:178554 Aggressive primary cutaneous B-cell lymphoma semapv:UnspecifiedMatching MONDO:0015819 indolent primary cutaneous B-cell lymphoma skos:exactMatch MEDGEN:1843003 semapv:UnspecifiedMatching MONDO:0015819 indolent primary cutaneous B-cell lymphoma skos:exactMatch Orphanet:178557 Indolent primary cutaneous B-cell lymphoma semapv:UnspecifiedMatching MONDO:0015819 indolent primary cutaneous B-cell lymphoma skos:exactMatch UMLS:C5680499 semapv:UnspecifiedMatching MONDO:0015820 primary cutaneous B-cell lymphoma skos:exactMatch MEDGEN:697651 semapv:UnspecifiedMatching MONDO:0015820 primary cutaneous B-cell lymphoma skos:exactMatch NCIT:C6858 Primary Cutaneous B-Cell Non-Hodgkin Lymphoma semapv:UnspecifiedMatching MONDO:0015820 primary cutaneous B-cell lymphoma skos:exactMatch Orphanet:178563 Primary cutaneous B-cell lymphoma semapv:UnspecifiedMatching MONDO:0015820 primary cutaneous B-cell lymphoma skos:exactMatch SCTID:402881008 semapv:UnspecifiedMatching MONDO:0015820 primary cutaneous B-cell lymphoma skos:exactMatch UMLS:C1274310 semapv:UnspecifiedMatching MONDO:0015821 mycosis fungoides and variants skos:exactMatch Orphanet:178566 Mycosis fungoides and variants semapv:UnspecifiedMatching MONDO:0015821 mycosis fungoides and variants skos:exactMatch icd11.foundation:2036068731 Mycosis fungoides variants semapv:UnspecifiedMatching MONDO:0015822 obsolete acquired neutropenia skos:exactMatch Orphanet:178996 Acquired neutropenia semapv:UnspecifiedMatching MONDO:0015822 obsolete acquired neutropenia skos:exactMatch icd11.foundation:348671706 Acquired neutropaenia semapv:UnspecifiedMatching MONDO:0015823 obsolete primary immunodeficiency due to a defect in adaptive immunity skos:exactMatch Orphanet:179006 Primary immunodeficiency due to a defect in adaptive immunity semapv:UnspecifiedMatching MONDO:0015823 obsolete primary immunodeficiency due to a defect in adaptive immunity skos:exactMatch icd11.foundation:1169765917 Primary immunodeficiencies due to disorders of adaptive immunity semapv:UnspecifiedMatching MONDO:0015824 oculomaxillofacial dysostosis skos:exactMatch MEDGEN:333072 semapv:UnspecifiedMatching MONDO:0015824 oculomaxillofacial dysostosis skos:exactMatch Orphanet:1794 Oculomaxillofacial dysostosis semapv:UnspecifiedMatching MONDO:0015824 oculomaxillofacial dysostosis skos:exactMatch SCTID:763830009 semapv:UnspecifiedMatching MONDO:0015824 oculomaxillofacial dysostosis skos:exactMatch UMLS:C1838348 semapv:UnspecifiedMatching MONDO:0015824 oculomaxillofacial dysostosis skos:exactMatch icd11.foundation:921026296 Oculomaxillofacial dysostosis semapv:UnspecifiedMatching MONDO:0015824 oculomaxillofacial dysostosis skos:exactMatch mesh:C537736 semapv:UnspecifiedMatching MONDO:0015825 obsolete obesity due to congenital leptin resistance skos:exactMatch Orphanet:179490 Obesity due to congenital leptin resistance semapv:UnspecifiedMatching MONDO:0015826 autosomal dominant spondylocostal dysostosis skos:exactMatch MEDGEN:902919 semapv:UnspecifiedMatching MONDO:0015826 autosomal dominant spondylocostal dysostosis skos:exactMatch Orphanet:1797 Autosomal dominant spondylocostal dysostosis semapv:UnspecifiedMatching MONDO:0015826 autosomal dominant spondylocostal dysostosis skos:exactMatch SCTID:716232002 semapv:UnspecifiedMatching MONDO:0015826 autosomal dominant spondylocostal dysostosis skos:exactMatch UMLS:C4274761 semapv:UnspecifiedMatching MONDO:0015827 distal renal tubular acidosis skos:exactMatch MEDGEN:853429 semapv:UnspecifiedMatching MONDO:0015827 distal renal tubular acidosis skos:exactMatch Orphanet:18 Distal renal tubular acidosis semapv:UnspecifiedMatching MONDO:0015827 distal renal tubular acidosis skos:exactMatch SCTID:236461000 semapv:UnspecifiedMatching MONDO:0015827 distal renal tubular acidosis skos:exactMatch UMLS:C1704380 semapv:UnspecifiedMatching MONDO:0015828 obsolete uterovaginal malformation skos:exactMatch Orphanet:180062 Uterovaginal malformation semapv:UnspecifiedMatching MONDO:0015829 obsolete non-syndromic uterovaginal malformation skos:exactMatch Orphanet:180065 Non-syndromic uterovaginal malformation semapv:UnspecifiedMatching MONDO:0015830 partial bilateral aplasia of the mullerian ducts skos:exactMatch MEDGEN:1843187 semapv:UnspecifiedMatching MONDO:0015830 partial bilateral aplasia of the mullerian ducts skos:exactMatch Orphanet:180068 Partial bilateral aplasia of the Müllerian ducts semapv:UnspecifiedMatching MONDO:0015830 partial bilateral aplasia of the mullerian ducts skos:exactMatch UMLS:C5679589 semapv:UnspecifiedMatching MONDO:0015831 unilateral aplasia of the mullerian ducts skos:exactMatch MEDGEN:78600 semapv:UnspecifiedMatching MONDO:0015831 unilateral aplasia of the mullerian ducts skos:exactMatch Orphanet:180071 Unilateral aplasia of the Müllerian ducts semapv:UnspecifiedMatching MONDO:0015831 unilateral aplasia of the mullerian ducts skos:exactMatch UMLS:C0266389 semapv:UnspecifiedMatching MONDO:0015832 true unicornuate uterus skos:exactMatch MEDGEN:1863468 semapv:UnspecifiedMatching MONDO:0015832 true unicornuate uterus skos:exactMatch Orphanet:180074 True unicornuate uterus semapv:UnspecifiedMatching MONDO:0015832 true unicornuate uterus skos:exactMatch UMLS:C5848180 semapv:UnspecifiedMatching MONDO:0015832 true unicornuate uterus skos:exactMatch icd11.foundation:113532659 True unicornuate uterus semapv:UnspecifiedMatching MONDO:0015833 pseudounicornuate uterus skos:exactMatch MEDGEN:1657403 semapv:UnspecifiedMatching MONDO:0015833 pseudounicornuate uterus skos:exactMatch Orphanet:180079 Pseudounicornuate uterus semapv:UnspecifiedMatching MONDO:0015833 pseudounicornuate uterus skos:exactMatch UMLS:C4749300 semapv:UnspecifiedMatching MONDO:0015834 didelphys uterus skos:exactMatch MEDGEN:82740 semapv:UnspecifiedMatching MONDO:0015834 didelphys uterus skos:exactMatch Orphanet:180086 Didelphys uterus semapv:UnspecifiedMatching MONDO:0015834 didelphys uterus skos:exactMatch SCTID:15545001 semapv:UnspecifiedMatching MONDO:0015834 didelphys uterus skos:exactMatch UMLS:C0266393 semapv:UnspecifiedMatching MONDO:0015835 Bicervical bicornuate uterus and blind hemivagina skos:exactMatch MEDGEN:1842173 semapv:UnspecifiedMatching MONDO:0015835 Bicervical bicornuate uterus and blind hemivagina skos:exactMatch Orphanet:180106 Bicervical bicornuate uterus and blind hemivagina semapv:UnspecifiedMatching MONDO:0015835 Bicervical bicornuate uterus and blind hemivagina skos:exactMatch UMLS:C5680489 semapv:UnspecifiedMatching MONDO:0015836 Bicervical bicornuate uterus with patent cervix and vagina skos:exactMatch MEDGEN:1842271 semapv:UnspecifiedMatching MONDO:0015836 Bicervical bicornuate uterus with patent cervix and vagina skos:exactMatch Orphanet:180111 Bicervical bicornuate uterus with patent cervix and vagina semapv:UnspecifiedMatching MONDO:0015836 Bicervical bicornuate uterus with patent cervix and vagina skos:exactMatch UMLS:C5680491 semapv:UnspecifiedMatching MONDO:0015836 Bicervical bicornuate uterus with patent cervix and vagina skos:exactMatch icd11.foundation:1145216664 Bicervical bicornuate uterus with patent cervix and vagina semapv:UnspecifiedMatching MONDO:0015837 obsolete Unicervical bicornuate uterus skos:exactMatch Orphanet:180114 Unicervical bicornuate uterus semapv:UnspecifiedMatching MONDO:0015838 cordiform uterus skos:exactMatch MEDGEN:539891 semapv:UnspecifiedMatching MONDO:0015838 cordiform uterus skos:exactMatch SCTID:14689000 semapv:UnspecifiedMatching MONDO:0015838 cordiform uterus skos:exactMatch UMLS:C0266397 semapv:UnspecifiedMatching MONDO:0015838 cordiform uterus skos:exactMatch icd11.foundation:282476394 Cordiform uterus semapv:UnspecifiedMatching MONDO:0015839 septate uterus skos:exactMatch MEDGEN:56272 semapv:UnspecifiedMatching MONDO:0015839 septate uterus skos:exactMatch Orphanet:180122 Septate uterus semapv:UnspecifiedMatching MONDO:0015839 septate uterus skos:exactMatch SCTID:22504001 semapv:UnspecifiedMatching MONDO:0015839 septate uterus skos:exactMatch UMLS:C0152240 semapv:UnspecifiedMatching MONDO:0015839 septate uterus skos:exactMatch icd11.foundation:1959106408 Septate uterus semapv:UnspecifiedMatching MONDO:0015840 complete septate uterus skos:exactMatch MEDGEN:1672501 semapv:UnspecifiedMatching MONDO:0015840 complete septate uterus skos:exactMatch Orphanet:180126 Complete septate uterus semapv:UnspecifiedMatching MONDO:0015840 complete septate uterus skos:exactMatch UMLS:C2957116 semapv:UnspecifiedMatching MONDO:0015841 partial septate uterus skos:exactMatch MEDGEN:539894 semapv:UnspecifiedMatching MONDO:0015841 partial septate uterus skos:exactMatch Orphanet:180129 Partial septate uterus semapv:UnspecifiedMatching MONDO:0015841 partial septate uterus skos:exactMatch SCTID:5364006 semapv:UnspecifiedMatching MONDO:0015841 partial septate uterus skos:exactMatch UMLS:C0266401 semapv:UnspecifiedMatching MONDO:0015842 bicornuate uterus skos:exactMatch MEDGEN:78599 semapv:UnspecifiedMatching MONDO:0015842 bicornuate uterus skos:exactMatch Orphanet:180134 Bicornuate uterus semapv:UnspecifiedMatching MONDO:0015842 bicornuate uterus skos:exactMatch SCTID:31401003 semapv:UnspecifiedMatching MONDO:0015842 bicornuate uterus skos:exactMatch UMLS:C0266387 semapv:UnspecifiedMatching MONDO:0015842 bicornuate uterus skos:exactMatch icd11.foundation:1965739367 Bicornuate uterus semapv:UnspecifiedMatching MONDO:0015843 uterine hypoplasia skos:exactMatch MEDGEN:120575 semapv:UnspecifiedMatching MONDO:0015843 uterine hypoplasia skos:exactMatch Orphanet:180139 Uterine hypoplasia semapv:UnspecifiedMatching MONDO:0015843 uterine hypoplasia skos:exactMatch UMLS:C0266399 semapv:UnspecifiedMatching MONDO:0015843 uterine hypoplasia skos:exactMatch icd11.foundation:1858530341 Hypoplasia of uterus semapv:UnspecifiedMatching MONDO:0015844 agenesis and aplasia of uterine body skos:exactMatch MEDGEN:1687110 semapv:UnspecifiedMatching MONDO:0015844 agenesis and aplasia of uterine body skos:exactMatch Orphanet:180142 Absence of uterine body semapv:UnspecifiedMatching MONDO:0015844 agenesis and aplasia of uterine body skos:exactMatch UMLS:C5230999 semapv:UnspecifiedMatching MONDO:0015844 agenesis and aplasia of uterine body skos:exactMatch icd11.foundation:25664922 Agenesis or aplasia of uterine body semapv:UnspecifiedMatching MONDO:0015845 uterine cervical aplasia and agenesis skos:exactMatch MEDGEN:1673872 semapv:UnspecifiedMatching MONDO:0015845 uterine cervical aplasia and agenesis skos:exactMatch Orphanet:180145 Uterine cervical aplasia and agenesis semapv:UnspecifiedMatching MONDO:0015845 uterine cervical aplasia and agenesis skos:exactMatch UMLS:C5190813 semapv:UnspecifiedMatching MONDO:0015845 uterine cervical aplasia and agenesis skos:exactMatch icd11.foundation:1670353767 Agenesis or aplasia of cervix semapv:UnspecifiedMatching MONDO:0015846 obsolete syndromic uterovaginal malformation skos:exactMatch Orphanet:180148 Syndromic uterovaginal malformation semapv:UnspecifiedMatching MONDO:0015847 obsolete rare vaginal malformation skos:exactMatch Orphanet:180151 Rare vaginal malformation semapv:UnspecifiedMatching MONDO:0015848 obsolete septate vagina skos:exactMatch Orphanet:180154 Septate vagina semapv:UnspecifiedMatching MONDO:0015848 obsolete septate vagina skos:exactMatch SCTID:47054003 semapv:UnspecifiedMatching MONDO:0015848 obsolete septate vagina skos:exactMatch icd11.foundation:1699475508 Septate vagina semapv:UnspecifiedMatching MONDO:0015849 longitudinal vaginal septum skos:exactMatch ICD10CM:Q52.12 Longitudinal vaginal septum semapv:UnspecifiedMatching MONDO:0015849 longitudinal vaginal septum skos:exactMatch MEDGEN:331104 semapv:UnspecifiedMatching MONDO:0015849 longitudinal vaginal septum skos:exactMatch Orphanet:180157 Longitudinal vaginal septum semapv:UnspecifiedMatching MONDO:0015849 longitudinal vaginal septum skos:exactMatch UMLS:C1841680 semapv:UnspecifiedMatching MONDO:0015849 longitudinal vaginal septum skos:exactMatch icd11.foundation:1594393492 Longitudinal vaginal septum semapv:UnspecifiedMatching MONDO:0015850 transverse vaginal septum skos:exactMatch ICD10CM:Q52.11 Transverse vaginal septum semapv:UnspecifiedMatching MONDO:0015850 transverse vaginal septum skos:exactMatch MEDGEN:341032 semapv:UnspecifiedMatching MONDO:0015850 transverse vaginal septum skos:exactMatch Orphanet:180160 Transverse vaginal septum semapv:UnspecifiedMatching MONDO:0015850 transverse vaginal septum skos:exactMatch UMLS:C1856006 semapv:UnspecifiedMatching MONDO:0015850 transverse vaginal septum skos:exactMatch icd11.foundation:1265288464 Transverse vaginal septum semapv:UnspecifiedMatching MONDO:0015851 obsolete rare breast malformation skos:exactMatch Orphanet:180163 Rare breast malformation semapv:UnspecifiedMatching MONDO:0015852 obsolete excess breast volume or number skos:exactMatch Orphanet:180170 Excess breast volume or number semapv:UnspecifiedMatching MONDO:0015853 obsolete deficient breast volume or number skos:exactMatch Orphanet:180173 Deficient breast volume or number semapv:UnspecifiedMatching MONDO:0015854 supernumerary breasts skos:exactMatch MEDGEN:78583 semapv:UnspecifiedMatching MONDO:0015854 supernumerary breasts skos:exactMatch Orphanet:180182 Supernumerary breasts semapv:UnspecifiedMatching MONDO:0015854 supernumerary breasts skos:exactMatch UMLS:C0266010 semapv:UnspecifiedMatching MONDO:0015854 supernumerary breasts skos:exactMatch icd11.foundation:1458532658 Supernumerary breasts semapv:UnspecifiedMatching MONDO:0015855 isolated congenital breast hypoplasia/aplasia skos:exactMatch MEDGEN:98489 semapv:UnspecifiedMatching MONDO:0015855 isolated congenital breast hypoplasia/aplasia skos:exactMatch OMIMPS:113700 Breasts and/or nipples, aplasia or hypoplasia of semapv:UnspecifiedMatching MONDO:0015855 isolated congenital breast hypoplasia/aplasia skos:exactMatch Orphanet:180188 Isolated congenital breast hypoplasia/aplasia semapv:UnspecifiedMatching MONDO:0015855 isolated congenital breast hypoplasia/aplasia skos:exactMatch UMLS:C0432357 semapv:UnspecifiedMatching MONDO:0015856 syndromic breast hypoplasia/aplasia skos:exactMatch MEDGEN:1842220 semapv:UnspecifiedMatching MONDO:0015856 syndromic breast hypoplasia/aplasia skos:exactMatch Orphanet:180193 Syndromic breast hypoplasia/aplasia semapv:UnspecifiedMatching MONDO:0015856 syndromic breast hypoplasia/aplasia skos:exactMatch UMLS:C5680482 semapv:UnspecifiedMatching MONDO:0015857 obsolete rare non-malformative gynecologic or obstetric disease skos:exactMatch Orphanet:180199 Rare non-malformative gynecologic or obstetric disease semapv:UnspecifiedMatching MONDO:0015858 obsolete rare non-malformative breast disease skos:exactMatch Orphanet:180202 Rare non-malformative breast disease semapv:UnspecifiedMatching MONDO:0015859 obsolete rare non-malformative uterovaginal or vulvovaginal disease skos:exactMatch Orphanet:180205 Rare non-malformative uterovaginal or vulvovaginal disease semapv:UnspecifiedMatching MONDO:0015860 obsolete anomaly of puberty or/and menstrual cycle skos:exactMatch Orphanet:180208 Anomaly of puberty or/and menstrual cycle semapv:UnspecifiedMatching MONDO:0015861 obsolete rare uterine adnexal tumor skos:exactMatch Orphanet:180220 Rare uterine adnexal tumor semapv:UnspecifiedMatching MONDO:0015863 polyembryoma skos:exactMatch MEDGEN:83160 semapv:UnspecifiedMatching MONDO:0015863 polyembryoma skos:exactMatch NCIT:C66776 Gonadal Polyembryoma semapv:UnspecifiedMatching MONDO:0015863 polyembryoma skos:exactMatch Orphanet:180229 Polyembryoma semapv:UnspecifiedMatching MONDO:0015863 polyembryoma skos:exactMatch UMLS:C0334518 semapv:UnspecifiedMatching MONDO:0015864 mixed germ cell tumor skos:exactMatch DOID:3306 mixed germ cell cancer semapv:UnspecifiedMatching MONDO:0015864 mixed germ cell tumor skos:exactMatch MEDGEN:87257 semapv:UnspecifiedMatching MONDO:0015864 mixed germ cell tumor skos:exactMatch NCIT:C4290 Mixed Germ Cell Tumor semapv:UnspecifiedMatching MONDO:0015864 mixed germ cell tumor skos:exactMatch Orphanet:180234 Mixed germ cell tumor semapv:UnspecifiedMatching MONDO:0015864 mixed germ cell tumor skos:exactMatch UMLS:C0334524 semapv:UnspecifiedMatching MONDO:0015867 vaginal carcinoma skos:exactMatch DOID:0050918 vaginal carcinoma semapv:UnspecifiedMatching MONDO:0015867 vaginal carcinoma skos:exactMatch MEDGEN:82653 semapv:UnspecifiedMatching MONDO:0015867 vaginal carcinoma skos:exactMatch NCIT:C3917 Vaginal Carcinoma semapv:UnspecifiedMatching MONDO:0015867 vaginal carcinoma skos:exactMatch Orphanet:180247 Vaginal carcinoma semapv:UnspecifiedMatching MONDO:0015867 vaginal carcinoma skos:exactMatch UMLS:C0262659 semapv:UnspecifiedMatching MONDO:0015868 obsolete rare breast tumor skos:exactMatch Orphanet:180250 Rare breast tumor semapv:UnspecifiedMatching MONDO:0015869 obsolete rare benign breast tumor skos:exactMatch Orphanet:180253 Rare benign breast tumor semapv:UnspecifiedMatching MONDO:0015870 obsolete rare malignant breast tumor skos:exactMatch Orphanet:180257 Rare malignant breast tumor semapv:UnspecifiedMatching MONDO:0015871 benign breast phyllodes tumor skos:exactMatch DOID:1631 benign breast phyllodes tumor semapv:UnspecifiedMatching MONDO:0015871 benign breast phyllodes tumor skos:exactMatch MEDGEN:231438 semapv:UnspecifiedMatching MONDO:0015871 benign breast phyllodes tumor skos:exactMatch NCIT:C5196 Benign Breast Phyllodes Tumor semapv:UnspecifiedMatching MONDO:0015871 benign breast phyllodes tumor skos:exactMatch Orphanet:180261 Phyllodes tumor of the breast semapv:UnspecifiedMatching MONDO:0015871 benign breast phyllodes tumor skos:exactMatch SCTID:720344007 semapv:UnspecifiedMatching MONDO:0015871 benign breast phyllodes tumor skos:exactMatch UMLS:C1332533 semapv:UnspecifiedMatching MONDO:0015871 benign breast phyllodes tumor skos:exactMatch icd11.foundation:827143668 Benign phyllodes tumour of breast semapv:UnspecifiedMatching MONDO:0015873 Paget disease of the nipple skos:exactMatch MEDGEN:352830 semapv:UnspecifiedMatching MONDO:0015873 Paget disease of the nipple skos:exactMatch NCIT:C3301 Nipple Paget Disease semapv:UnspecifiedMatching MONDO:0015873 Paget disease of the nipple skos:exactMatch Orphanet:180275 Paget disease of the nipple semapv:UnspecifiedMatching MONDO:0015873 Paget disease of the nipple skos:exactMatch SCTID:403946000 semapv:UnspecifiedMatching MONDO:0015873 Paget disease of the nipple skos:exactMatch UMLS:C1704323 semapv:UnspecifiedMatching MONDO:0015873 Paget disease of the nipple skos:exactMatch icd11.foundation:1295910447 Paget disease of nipple semapv:UnspecifiedMatching MONDO:0015875 obsolete rare non-malformative uterine adnexal disease skos:exactMatch Orphanet:180303 Rare non-malformative uterine adnexal disease semapv:UnspecifiedMatching MONDO:0015876 obsolete rare vulvovaginal tumor skos:exactMatch Orphanet:180312 Rare vulvovaginal tumor semapv:UnspecifiedMatching MONDO:0015877 obsolete malformative syndrome with dentinogenesis imperfecta skos:exactMatch Orphanet:180766 Malformative syndrome with dentinogenesis imperfecta semapv:UnspecifiedMatching MONDO:0015878 obsolete rare disease with autism skos:exactMatch Orphanet:180772 Rare disease with autism semapv:UnspecifiedMatching MONDO:0015879 obsolete non-syndromic diaphragmatic or thoracic malformation skos:exactMatch Orphanet:180776 Non-syndromic diaphragmatic or thoracic malformation semapv:UnspecifiedMatching MONDO:0015880 obsolete syndromic diaphragmatic or thoracic malformation skos:exactMatch Orphanet:180779 Syndromic diaphragmatic or thoracic malformation semapv:UnspecifiedMatching MONDO:0015881 obsolete gastroesophageal tumor skos:exactMatch Orphanet:180821 Rare gastroesophageal tumor semapv:UnspecifiedMatching MONDO:0015882 obsolete rare tumor of pancreas skos:exactMatch Orphanet:180824 Rare tumor of pancreas semapv:UnspecifiedMatching MONDO:0015883 hidrotic ectodermal dysplasia, Halal type skos:exactMatch MEDGEN:443941 semapv:UnspecifiedMatching MONDO:0015883 hidrotic ectodermal dysplasia, Halal type skos:exactMatch Orphanet:1809 Hidrotic ectodermal dysplasia, Halal type semapv:UnspecifiedMatching MONDO:0015883 hidrotic ectodermal dysplasia, Halal type skos:exactMatch SCTID:721147000 semapv:UnspecifiedMatching MONDO:0015883 hidrotic ectodermal dysplasia, Halal type skos:exactMatch UMLS:C2930953 semapv:UnspecifiedMatching MONDO:0015883 hidrotic ectodermal dysplasia, Halal type skos:exactMatch icd11.foundation:1668450131 Hidrotic ectodermal dysplasia, Halal type semapv:UnspecifiedMatching MONDO:0015883 hidrotic ectodermal dysplasia, Halal type skos:exactMatch mesh:C535621 semapv:UnspecifiedMatching MONDO:0015884 autosomal dominant hypohidrotic ectodermal dysplasia skos:exactMatch MEDGEN:539190 semapv:UnspecifiedMatching MONDO:0015884 autosomal dominant hypohidrotic ectodermal dysplasia skos:exactMatch Orphanet:1810 Autosomal dominant hypohidrotic ectodermal dysplasia semapv:UnspecifiedMatching MONDO:0015884 autosomal dominant hypohidrotic ectodermal dysplasia skos:exactMatch UMLS:C0265331 semapv:UnspecifiedMatching MONDO:0015884 autosomal dominant hypohidrotic ectodermal dysplasia skos:exactMatch icd11.foundation:222258115 Autosomal dominant hypohidrotic ectodermal dysplasia semapv:UnspecifiedMatching MONDO:0015885 obsolete rare insulin-resistance syndrome skos:exactMatch NCIT:C113169 Insulin Resistance Syndrome semapv:UnspecifiedMatching MONDO:0015885 obsolete rare insulin-resistance syndrome skos:exactMatch Orphanet:181368 Rare insulin-resistance syndrome semapv:UnspecifiedMatching MONDO:0015886 obsolete rare diabetes mellitus type 1 skos:exactMatch Orphanet:181371 Rare diabetes mellitus type 1 semapv:UnspecifiedMatching MONDO:0015887 obsolete rare diabetes mellitus type 2 skos:exactMatch Orphanet:181376 Rare diabetes mellitus type 2 semapv:UnspecifiedMatching MONDO:0015888 obsolete other rare diabetes mellitus skos:exactMatch Orphanet:181381 Other rare diabetes mellitus semapv:UnspecifiedMatching MONDO:0015889 obsolete rare hypothalamic or pituitary disease skos:exactMatch Orphanet:181384 Rare hypothalamic or pituitary disease semapv:UnspecifiedMatching MONDO:0015890 obsolete rare disorder with congenital hypogonadotropic hypogonadism skos:exactMatch Orphanet:181387 Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism semapv:UnspecifiedMatching MONDO:0015891 obsolete hypogonadotropic hypogonadism associated with other endocrinopathies skos:exactMatch Orphanet:181390 Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature semapv:UnspecifiedMatching MONDO:0015892 growth hormone insensitivity syndrome skos:exactMatch MEDGEN:1384226 semapv:UnspecifiedMatching MONDO:0015892 growth hormone insensitivity syndrome skos:exactMatch NCIT:C129867 Growth Hormone Insensitivity Syndrome semapv:UnspecifiedMatching MONDO:0015892 growth hormone insensitivity syndrome skos:exactMatch Orphanet:181393 Growth hormone insensitivity syndrome semapv:UnspecifiedMatching MONDO:0015892 growth hormone insensitivity syndrome skos:exactMatch UMLS:C4318479 semapv:UnspecifiedMatching MONDO:0015893 obsolete rare hypothyroidism skos:exactMatch Orphanet:181396 Rare hypothyroidism semapv:UnspecifiedMatching MONDO:0015894 obsolete rare hyperthyroidism skos:exactMatch Orphanet:181399 Rare hyperthyroidism semapv:UnspecifiedMatching MONDO:0015895 obsolete syndrome with hypoparathyroidism skos:exactMatch Orphanet:181402 Syndrome with hypoparathyroidism semapv:UnspecifiedMatching MONDO:0015896 obsolete rare hypoparathyroidism skos:exactMatch Orphanet:181405 Rare hypoparathyroidism semapv:UnspecifiedMatching MONDO:0015897 obsolete rare hyperparathyroidism skos:exactMatch Orphanet:181408 Rare hyperparathyroidism semapv:UnspecifiedMatching MONDO:0015898 adrenogenital syndrome skos:exactMatch MEDGEN:86215 semapv:UnspecifiedMatching MONDO:0015898 adrenogenital syndrome skos:exactMatch Orphanet:181412 Adrenogenital syndrome semapv:UnspecifiedMatching MONDO:0015898 adrenogenital syndrome skos:exactMatch SCTID:267395000 semapv:UnspecifiedMatching MONDO:0015898 adrenogenital syndrome skos:exactMatch UMLS:C0302280 semapv:UnspecifiedMatching MONDO:0015898 adrenogenital syndrome skos:exactMatch icd11.foundation:131153029 Adrenogenital disorders semapv:UnspecifiedMatching MONDO:0015898 adrenogenital syndrome skos:exactMatch mesh:D047808 semapv:UnspecifiedMatching MONDO:0015899 obsolete rare primary hyperaldosteronism skos:exactMatch Orphanet:181415 Rare primary hyperaldosteronism semapv:UnspecifiedMatching MONDO:0015900 hypoaldosteronism disease skos:exactMatch MEDGEN:208996 semapv:UnspecifiedMatching MONDO:0015900 hypoaldosteronism disease skos:exactMatch Orphanet:181419 Rare hypoaldosteronism semapv:UnspecifiedMatching MONDO:0015900 hypoaldosteronism disease skos:exactMatch SCTID:60086000 semapv:UnspecifiedMatching MONDO:0015900 hypoaldosteronism disease skos:exactMatch UMLS:C0857899 semapv:UnspecifiedMatching MONDO:0015900 hypoaldosteronism disease skos:exactMatch mesh:D006994 semapv:UnspecifiedMatching MONDO:0015901 obsolete rare inherited hyperlipidemia skos:exactMatch Orphanet:181422 Rare hyperlipidemia semapv:UnspecifiedMatching MONDO:0015902 obsolete major hypertriglyceridemia skos:exactMatch Orphanet:181425 OBSOLETE: Rare major hypertriglyceridemia semapv:UnspecifiedMatching MONDO:0015903 hyperalphalipoproteinemia skos:exactMatch MEDGEN:87465 semapv:UnspecifiedMatching MONDO:0015903 hyperalphalipoproteinemia skos:exactMatch NCIT:C128806 Hyperalphalipoproteinemia semapv:UnspecifiedMatching MONDO:0015903 hyperalphalipoproteinemia skos:exactMatch Orphanet:181428 Familial Hyperalphalipoproteinemia semapv:UnspecifiedMatching MONDO:0015903 hyperalphalipoproteinemia skos:exactMatch SCTID:238080004 semapv:UnspecifiedMatching MONDO:0015903 hyperalphalipoproteinemia skos:exactMatch UMLS:C0342883 semapv:UnspecifiedMatching MONDO:0015903 hyperalphalipoproteinemia skos:exactMatch icd11.foundation:1599779547 Hyperalphalipoproteinaemia semapv:UnspecifiedMatching MONDO:0015904 obsolete rare hypolipidemia skos:exactMatch Orphanet:181431 Rare hypolipidemia semapv:UnspecifiedMatching MONDO:0015905 syndromic dyslipidemia skos:exactMatch MEDGEN:1826171 semapv:UnspecifiedMatching MONDO:0015905 syndromic dyslipidemia skos:exactMatch Orphanet:181437 Rare syndromic dyslipidemia semapv:UnspecifiedMatching MONDO:0015905 syndromic dyslipidemia skos:exactMatch SCTID:109041000119107 semapv:UnspecifiedMatching MONDO:0015905 syndromic dyslipidemia skos:exactMatch UMLS:C5680608 semapv:UnspecifiedMatching MONDO:0015906 obsolete rare disorder with hypergonadotropic hypogonadism skos:exactMatch Orphanet:181441 Rare disorder with hypergonadotropic hypogonadism semapv:UnspecifiedMatching MONDO:0015908 chromomycosis skos:exactMatch DOID:1562 chromoblastomycosis semapv:UnspecifiedMatching MONDO:0015908 chromomycosis skos:exactMatch EFO:0007207 semapv:UnspecifiedMatching MONDO:0015908 chromomycosis skos:exactMatch MEDGEN:3434 semapv:UnspecifiedMatching MONDO:0015908 chromomycosis skos:exactMatch Orphanet:182 Chromomycosis semapv:UnspecifiedMatching MONDO:0015908 chromomycosis skos:exactMatch SCTID:187079000 semapv:UnspecifiedMatching MONDO:0015908 chromomycosis skos:exactMatch UMLS:C0008582 semapv:UnspecifiedMatching MONDO:0015908 chromomycosis skos:exactMatch icd11.foundation:1438584733 Chromoblastomycosis semapv:UnspecifiedMatching MONDO:0015908 chromomycosis skos:exactMatch mesh:D002862 semapv:UnspecifiedMatching MONDO:0015909 aplastic anemia skos:exactMatch DOID:12449 aplastic anemia semapv:UnspecifiedMatching MONDO:0015909 aplastic anemia skos:exactMatch MEDGEN:8063 semapv:UnspecifiedMatching MONDO:0015909 aplastic anemia skos:exactMatch NCIT:C2870 Aplastic Anemia semapv:UnspecifiedMatching MONDO:0015909 aplastic anemia skos:exactMatch OMIM:609135 aplastic anemia semapv:UnspecifiedMatching MONDO:0015909 aplastic anemia skos:exactMatch Orphanet:182040 Rare aplastic anemia semapv:UnspecifiedMatching MONDO:0015909 aplastic anemia skos:exactMatch SCTID:306058006 semapv:UnspecifiedMatching MONDO:0015909 aplastic anemia skos:exactMatch UMLS:C0002874 semapv:UnspecifiedMatching MONDO:0015909 aplastic anemia skos:exactMatch mesh:D000741 semapv:UnspecifiedMatching MONDO:0015910 obsolete rare constitutional hemolytic anemia skos:exactMatch Orphanet:182043 Rare constitutional hemolytic anemia semapv:UnspecifiedMatching MONDO:0015911 obsolete rare acquired hemolytic anemia skos:exactMatch NCIT:C34377 Acquired Hemolytic Anemia semapv:UnspecifiedMatching MONDO:0015911 obsolete rare acquired hemolytic anemia skos:exactMatch Orphanet:182047 Rare acquired hemolytic anemia semapv:UnspecifiedMatching MONDO:0015911 obsolete rare acquired hemolytic anemia skos:exactMatch SCTID:4854004 semapv:UnspecifiedMatching MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:exactMatch DOID:0060651 MYH-9 related disease semapv:UnspecifiedMatching MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:exactMatch EFO:0009646 semapv:UnspecifiedMatching MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:exactMatch MEDGEN:1704278 semapv:UnspecifiedMatching MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:exactMatch NCIT:C131646 May-Hegglin Anomaly semapv:UnspecifiedMatching MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:exactMatch NCIT:C158788 Macrothrombocytopenia and Granulocyte Inclusions with or without Nephritis or Sensorineural Hearing Loss semapv:UnspecifiedMatching MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:exactMatch OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss semapv:UnspecifiedMatching MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:exactMatch Orphanet:182050 MYH9-related syndromic thrombocytopenia semapv:UnspecifiedMatching MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:exactMatch SCTID:234484005 semapv:UnspecifiedMatching MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:exactMatch SCTID:234485006 semapv:UnspecifiedMatching MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:exactMatch SCTID:236422008 semapv:UnspecifiedMatching MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:exactMatch SCTID:712922002 semapv:UnspecifiedMatching MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:exactMatch UMLS:C5200934 semapv:UnspecifiedMatching MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:exactMatch mesh:C537831 semapv:UnspecifiedMatching MONDO:0015913 obsolete rare thrombotic disease of hematologic origin skos:exactMatch Orphanet:182054 Rare thrombotic disease of hematologic origin semapv:UnspecifiedMatching MONDO:0015914 primary orthostatic hypotension skos:exactMatch MEDGEN:1842969 semapv:UnspecifiedMatching MONDO:0015914 primary orthostatic hypotension skos:exactMatch Orphanet:182058 Primary orthostatic hypotension semapv:UnspecifiedMatching MONDO:0015914 primary orthostatic hypotension skos:exactMatch UMLS:C5680599 semapv:UnspecifiedMatching MONDO:0015915 obsolete cerebellar malformation skos:exactMatch Orphanet:182061 Cerebellar malformation semapv:UnspecifiedMatching MONDO:0015916 obsolete rare neuroinflammatory or neuroimmunological disease skos:exactMatch Orphanet:182064 Rare neuroinflammatory or neuroimmunological disease semapv:UnspecifiedMatching MONDO:0015918 obsolete rare neurodegenerative disease skos:exactMatch Orphanet:182070 Rare neurodegenerative disease semapv:UnspecifiedMatching MONDO:0015919 obsolete syndromic neurometabolic disease with non-X-linked intellectual disability skos:exactMatch Orphanet:182073 OBSOLETE: Syndromic neurometabolic disease with non-X-linked intellectual disability semapv:UnspecifiedMatching MONDO:0015920 obsolete syndromic neurometabolic disease with X-linked intellectual disability skos:exactMatch Orphanet:182076 OBSOLETE: Syndromic neurometabolic disease with X-linked intellectual disability semapv:UnspecifiedMatching MONDO:0015921 obsolete ARX-related epileptic encephalopathy skos:exactMatch Orphanet:182079 ARX-related epileptic encephalopathy semapv:UnspecifiedMatching MONDO:0015922 obsolete channelopathy with epilepsy skos:exactMatch Orphanet:182083 Channelopathy with epilepsy semapv:UnspecifiedMatching MONDO:0015923 acquired peripheral neuropathy skos:exactMatch MEDGEN:1842976 semapv:UnspecifiedMatching MONDO:0015923 acquired peripheral neuropathy skos:exactMatch Orphanet:182086 Acquired peripheral neuropathy semapv:UnspecifiedMatching MONDO:0015923 acquired peripheral neuropathy skos:exactMatch UMLS:C5680596 semapv:UnspecifiedMatching MONDO:0015924 pulmonary arterial hypertension skos:exactMatch EFO:0001361 semapv:UnspecifiedMatching MONDO:0015924 pulmonary arterial hypertension skos:exactMatch MEDGEN:425404 semapv:UnspecifiedMatching MONDO:0015924 pulmonary arterial hypertension skos:exactMatch Orphanet:182090 Pulmonary arterial hypertension semapv:UnspecifiedMatching MONDO:0015924 pulmonary arterial hypertension skos:exactMatch Orphanet:422 Idiopathic/heritable pulmonary arterial hypertension semapv:UnspecifiedMatching MONDO:0015924 pulmonary arterial hypertension skos:exactMatch SCTID:11399002 semapv:UnspecifiedMatching MONDO:0015924 pulmonary arterial hypertension skos:exactMatch UMLS:C2973725 semapv:UnspecifiedMatching MONDO:0015924 pulmonary arterial hypertension skos:exactMatch icd11.foundation:1931148955 Pulmonary arterial hypertension semapv:UnspecifiedMatching MONDO:0015924 pulmonary arterial hypertension skos:exactMatch mesh:D000081029 semapv:UnspecifiedMatching MONDO:0015925 interstitial lung disease skos:exactMatch DOID:3082 interstitial lung disease semapv:UnspecifiedMatching MONDO:0015925 interstitial lung disease skos:exactMatch EFO:0004244 semapv:UnspecifiedMatching MONDO:0015925 interstitial lung disease skos:exactMatch ICD10CM:J80-J84 Other respiratory diseases principally affecting the interstitium (J80-J84) semapv:UnspecifiedMatching MONDO:0015925 interstitial lung disease skos:exactMatch MEDGEN:1788738 semapv:UnspecifiedMatching MONDO:0015925 interstitial lung disease skos:exactMatch NCIT:C164315 Interstitial Lung Disease semapv:UnspecifiedMatching MONDO:0015925 interstitial lung disease skos:exactMatch Orphanet:182095 Interstitial lung disease semapv:UnspecifiedMatching MONDO:0015925 interstitial lung disease skos:exactMatch SCTID:233703007 semapv:UnspecifiedMatching MONDO:0015925 interstitial lung disease skos:exactMatch UMLS:C5441745 semapv:UnspecifiedMatching MONDO:0015925 interstitial lung disease skos:exactMatch mesh:D017563 semapv:UnspecifiedMatching MONDO:0015926 pneumoconiosis skos:exactMatch DOID:10316 pneumoconiosis semapv:UnspecifiedMatching MONDO:0015926 pneumoconiosis skos:exactMatch MEDGEN:19360 semapv:UnspecifiedMatching MONDO:0015926 pneumoconiosis skos:exactMatch NCIT:C26861 Pneumoconiosis semapv:UnspecifiedMatching MONDO:0015926 pneumoconiosis skos:exactMatch Orphanet:182098 Pneumoconiosis semapv:UnspecifiedMatching MONDO:0015926 pneumoconiosis skos:exactMatch SCTID:40122008 semapv:UnspecifiedMatching MONDO:0015926 pneumoconiosis skos:exactMatch UMLS:C0032273 semapv:UnspecifiedMatching MONDO:0015926 pneumoconiosis skos:exactMatch icd11.foundation:611962875 Pneumoconiosis semapv:UnspecifiedMatching MONDO:0015926 pneumoconiosis skos:exactMatch mesh:D011009 semapv:UnspecifiedMatching MONDO:0015927 idiopathic eosinophilic pneumonia skos:exactMatch MEDGEN:836928 semapv:UnspecifiedMatching MONDO:0015927 idiopathic eosinophilic pneumonia skos:exactMatch Orphanet:182101 Idiopathic eosinophilic pneumonia semapv:UnspecifiedMatching MONDO:0015927 idiopathic eosinophilic pneumonia skos:exactMatch SCTID:708031000 semapv:UnspecifiedMatching MONDO:0015927 idiopathic eosinophilic pneumonia skos:exactMatch UMLS:C3872845 semapv:UnspecifiedMatching MONDO:0015928 obsolete secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease skos:exactMatch Orphanet:182104 Secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease semapv:UnspecifiedMatching MONDO:0015929 thoracic malformation skos:exactMatch MEDGEN:1842414 semapv:UnspecifiedMatching MONDO:0015929 thoracic malformation skos:exactMatch Orphanet:182108 Thoracic malformation semapv:UnspecifiedMatching MONDO:0015929 thoracic malformation skos:exactMatch UMLS:C5680597 semapv:UnspecifiedMatching MONDO:0015930 obsolete respiratory malformation skos:exactMatch Orphanet:182111 Respiratory malformation semapv:UnspecifiedMatching MONDO:0015931 obsolete rare urogenital tumor skos:exactMatch Orphanet:182114 Rare urogenital tumor semapv:UnspecifiedMatching MONDO:0015932 obsolete non-syndromic urogenital tract malformation of female skos:exactMatch Orphanet:182117 Non-syndromic urogenital tract malformation of female semapv:UnspecifiedMatching MONDO:0015933 obsolete non-syndromic urogenital tract malformation of male skos:exactMatch Orphanet:182121 Non-syndromic urogenital tract malformation of male semapv:UnspecifiedMatching MONDO:0015934 obsolete non-syndromic urogenital tract malformation of male and female skos:exactMatch Orphanet:182124 Non-syndromic urogenital tract malformation of male and female semapv:UnspecifiedMatching MONDO:0015935 extragonadal germinoma skos:exactMatch MEDGEN:1673080 semapv:UnspecifiedMatching MONDO:0015935 extragonadal germinoma skos:exactMatch Orphanet:182127 Extragonadal germinoma semapv:UnspecifiedMatching MONDO:0015935 extragonadal germinoma skos:exactMatch UMLS:C5190513 semapv:UnspecifiedMatching MONDO:0015936 obsolete rare tumor of endocrine glands skos:exactMatch Orphanet:182130 Tumor of endocrine glands semapv:UnspecifiedMatching MONDO:0015937 obsolete rare inflammatory eye disease skos:exactMatch Orphanet:182214 OBSOLETE: Rare inflammatory eye disease semapv:UnspecifiedMatching MONDO:0015939 obsolete systemic autoimmune disease skos:exactMatch Orphanet:182228 Systemic autoimmune disease semapv:UnspecifiedMatching MONDO:0015940 obsolete rare rheumatologic disease skos:exactMatch Orphanet:182231 Rare rheumatologic disease semapv:UnspecifiedMatching MONDO:0015941 epiphyseal dysplasia-hearing loss-dysmorphism syndrome skos:exactMatch MEDGEN:1643947 semapv:UnspecifiedMatching MONDO:0015941 epiphyseal dysplasia-hearing loss-dysmorphism syndrome skos:exactMatch Orphanet:1825 Epiphyseal dysplasia-hearing loss-dysmorphism syndrome semapv:UnspecifiedMatching MONDO:0015941 epiphyseal dysplasia-hearing loss-dysmorphism syndrome skos:exactMatch SCTID:766870005 semapv:UnspecifiedMatching MONDO:0015941 epiphyseal dysplasia-hearing loss-dysmorphism syndrome skos:exactMatch UMLS:C4707857 semapv:UnspecifiedMatching MONDO:0015942 frontometaphyseal dysplasia skos:exactMatch DOID:0111785 frontometaphyseal dysplasia semapv:UnspecifiedMatching MONDO:0015942 frontometaphyseal dysplasia skos:exactMatch MEDGEN:82703 semapv:UnspecifiedMatching MONDO:0015942 frontometaphyseal dysplasia skos:exactMatch OMIMPS:305620 Frontometaphyseal dysplasia semapv:UnspecifiedMatching MONDO:0015942 frontometaphyseal dysplasia skos:exactMatch Orphanet:1826 Frontometaphyseal dysplasia semapv:UnspecifiedMatching MONDO:0015942 frontometaphyseal dysplasia skos:exactMatch SCTID:62803002 semapv:UnspecifiedMatching MONDO:0015942 frontometaphyseal dysplasia skos:exactMatch UMLS:C0265293 semapv:UnspecifiedMatching MONDO:0015942 frontometaphyseal dysplasia skos:exactMatch icd11.foundation:1767187670 Frontometaphyseal dysplasia semapv:UnspecifiedMatching MONDO:0015942 frontometaphyseal dysplasia skos:exactMatch mesh:C538064 semapv:UnspecifiedMatching MONDO:0015943 eosinophilic granulomatosis with polyangiitis skos:exactMatch DOID:3049 Churg-Strauss syndrome semapv:UnspecifiedMatching MONDO:0015943 eosinophilic granulomatosis with polyangiitis skos:exactMatch EFO:0007208 semapv:UnspecifiedMatching MONDO:0015943 eosinophilic granulomatosis with polyangiitis skos:exactMatch ICD10CM:M30.1 Polyarteritis with lung involvement [Churg-Strauss] semapv:UnspecifiedMatching MONDO:0015943 eosinophilic granulomatosis with polyangiitis skos:exactMatch MEDGEN:3088 semapv:UnspecifiedMatching MONDO:0015943 eosinophilic granulomatosis with polyangiitis skos:exactMatch NCIT:C34481 Eosinophilic Granulomatosis with Polyangiitis semapv:UnspecifiedMatching MONDO:0015943 eosinophilic granulomatosis with polyangiitis skos:exactMatch Orphanet:183 Eosinophilic granulomatosis with polyangiitis semapv:UnspecifiedMatching MONDO:0015943 eosinophilic granulomatosis with polyangiitis skos:exactMatch SCTID:82275008 semapv:UnspecifiedMatching MONDO:0015943 eosinophilic granulomatosis with polyangiitis skos:exactMatch UMLS:C0008728 semapv:UnspecifiedMatching MONDO:0015943 eosinophilic granulomatosis with polyangiitis skos:exactMatch icd11.foundation:835880885 Eosinophilic granulomatosis with polyangiitis semapv:UnspecifiedMatching MONDO:0015943 eosinophilic granulomatosis with polyangiitis skos:exactMatch mesh:D015267 semapv:UnspecifiedMatching MONDO:0015944 axial mesodermal dysplasia spectrum skos:exactMatch MEDGEN:419853 semapv:UnspecifiedMatching MONDO:0015944 axial mesodermal dysplasia spectrum skos:exactMatch Orphanet:1834 Axial mesodermal dysplasia spectrum semapv:UnspecifiedMatching MONDO:0015944 axial mesodermal dysplasia spectrum skos:exactMatch SCTID:765755006 semapv:UnspecifiedMatching MONDO:0015944 axial mesodermal dysplasia spectrum skos:exactMatch UMLS:C2931613 semapv:UnspecifiedMatching MONDO:0015944 axial mesodermal dysplasia spectrum skos:exactMatch mesh:C537790 semapv:UnspecifiedMatching MONDO:0015945 obsolete polymalformative genetic syndrome with increased risk of developing cancer skos:exactMatch Orphanet:183422 Polymalformative genetic syndrome with increased risk of developing cancer semapv:UnspecifiedMatching MONDO:0015946 obsolete rare genetic epidermal disorder skos:exactMatch Orphanet:183426 Genetic epidermal disorder semapv:UnspecifiedMatching MONDO:0015947 inherited ichthyosis skos:exactMatch ICD10CM:Q80 Congenital ichthyosis semapv:UnspecifiedMatching MONDO:0015947 inherited ichthyosis skos:exactMatch MEDGEN:797407 semapv:UnspecifiedMatching MONDO:0015947 inherited ichthyosis skos:exactMatch Orphanet:183435 Inherited ichthyosis semapv:UnspecifiedMatching MONDO:0015947 inherited ichthyosis skos:exactMatch SCTID:13059002 semapv:UnspecifiedMatching MONDO:0015947 inherited ichthyosis skos:exactMatch UMLS:C0856562 semapv:UnspecifiedMatching MONDO:0015948 obsolete rare genetic skin vascular disorder skos:exactMatch Orphanet:183478 Genetic skin vascular disorder semapv:UnspecifiedMatching MONDO:0015949 obsolete rare genetic subcutaneous tissue disorder skos:exactMatch Orphanet:183484 Genetic subcutaneous tissue disorder semapv:UnspecifiedMatching MONDO:0015950 obsolete inherited skin tumor skos:exactMatch Orphanet:183487 Genetic skin tumor or hamartoma semapv:UnspecifiedMatching MONDO:0015951 hereditary photodermatosis skos:exactMatch MEDGEN:1842494 semapv:UnspecifiedMatching MONDO:0015951 hereditary photodermatosis skos:exactMatch Orphanet:183490 Genetic photodermatosis semapv:UnspecifiedMatching MONDO:0015951 hereditary photodermatosis skos:exactMatch UMLS:C5679594 semapv:UnspecifiedMatching MONDO:0015953 obsolete genetic central nervous system and retinal vascular disease skos:exactMatch Orphanet:183503 Genetic central nervous system and retinal vascular disease semapv:UnspecifiedMatching MONDO:0015954 obsolete rare genetic headache disorder skos:exactMatch Orphanet:183509 Rare genetic headache semapv:UnspecifiedMatching MONDO:0015955 obsolete rare genetic epilepsy skos:exactMatch Orphanet:183512 Rare genetic epilepsy semapv:UnspecifiedMatching MONDO:0015957 obsolete rare genetic movement disorder skos:exactMatch Orphanet:183521 Rare genetic movement disorder semapv:UnspecifiedMatching MONDO:0015958 obsolete rare genetic bone disease skos:exactMatch Orphanet:183524 Rare genetic bone disease semapv:UnspecifiedMatching MONDO:0015959 obsolete inherited syndrome with bone tumors as a major feature skos:exactMatch Orphanet:183527 Genetic bone tumor semapv:UnspecifiedMatching MONDO:0015960 obsolete rare genetic developmental defect during embryogenesis skos:exactMatch Orphanet:183530 Rare genetic developmental defect during embryogenesis semapv:UnspecifiedMatching MONDO:0015961 obsolete hereditary head and neck malformation skos:exactMatch Orphanet:183583 Genetic head and neck malformation semapv:UnspecifiedMatching MONDO:0015962 inherited renal tubular disease skos:exactMatch MEDGEN:1826140 semapv:UnspecifiedMatching MONDO:0015962 inherited renal tubular disease skos:exactMatch Orphanet:183592 Genetic renal tubular disease semapv:UnspecifiedMatching MONDO:0015962 inherited renal tubular disease skos:exactMatch UMLS:C5680544 semapv:UnspecifiedMatching MONDO:0015963 obsolete inherited renal tumor skos:exactMatch Orphanet:183595 Genetic renal tumor semapv:UnspecifiedMatching MONDO:0015964 obsolete obsolete rare genetic palpebral, lacrimal system and conjunctival disease skos:exactMatch Orphanet:183598 OBSOLETE: Rare genetic palpebral, lacrimal system and conjunctival disease semapv:UnspecifiedMatching MONDO:0015965 obsolete rare genetic refraction anomaly skos:exactMatch Orphanet:183601 OBSOLETE: Rare genetic refraction anomaly semapv:UnspecifiedMatching MONDO:0015966 obsolete hereditary eye tumor skos:exactMatch Orphanet:183619 Genetic eye tumor semapv:UnspecifiedMatching MONDO:0015967 monogenic diabetes skos:exactMatch EFO:1001511 semapv:UnspecifiedMatching MONDO:0015967 monogenic diabetes skos:exactMatch MEDGEN:1392102 semapv:UnspecifiedMatching MONDO:0015967 monogenic diabetes skos:exactMatch NCIT:C129739 Monogenic Diabetes semapv:UnspecifiedMatching MONDO:0015967 monogenic diabetes skos:exactMatch Orphanet:183625 Rare genetic diabetes mellitus semapv:UnspecifiedMatching MONDO:0015967 monogenic diabetes skos:exactMatch UMLS:C3888631 semapv:UnspecifiedMatching MONDO:0015968 obsolete rare genetic hypothalamic or pituitary disease skos:exactMatch Orphanet:183628 Rare genetic hypothalamic or pituitary disease semapv:UnspecifiedMatching MONDO:0015969 obsolete rare genetic thyroid disease skos:exactMatch Orphanet:183631 Rare genetic thyroid disease semapv:UnspecifiedMatching MONDO:0015970 obsolete rare genetic parathyroid disease and phosphocalcic metabolism disorder skos:exactMatch Orphanet:183634 Rare genetic parathyroid disease and phosphocalcic metabolism disorder semapv:UnspecifiedMatching MONDO:0015971 obsolete rare genetic adrenal disease skos:exactMatch Orphanet:183637 Rare genetic adrenal disease semapv:UnspecifiedMatching MONDO:0015972 obsolete rare constitutional anemia skos:exactMatch Orphanet:183651 Rare constitutional anemia semapv:UnspecifiedMatching MONDO:0015974 severe combined immunodeficiency skos:exactMatch DOID:627 severe combined immunodeficiency semapv:UnspecifiedMatching MONDO:0015974 severe combined immunodeficiency skos:exactMatch MEDGEN:88328 semapv:UnspecifiedMatching MONDO:0015974 severe combined immunodeficiency skos:exactMatch NCIT:C3472 Severe Combined Immunodeficiency semapv:UnspecifiedMatching MONDO:0015974 severe combined immunodeficiency skos:exactMatch Orphanet:183660 Severe combined immunodeficiency semapv:UnspecifiedMatching MONDO:0015974 severe combined immunodeficiency skos:exactMatch SCTID:31323000 semapv:UnspecifiedMatching MONDO:0015974 severe combined immunodeficiency skos:exactMatch UMLS:C0085110 semapv:UnspecifiedMatching MONDO:0015974 severe combined immunodeficiency skos:exactMatch icd11.foundation:963193284 Severe combined immunodeficiencies semapv:UnspecifiedMatching MONDO:0015974 severe combined immunodeficiency skos:exactMatch mesh:D016511 semapv:UnspecifiedMatching MONDO:0015975 obsolete hyper-IgM syndrome with susceptibility to opportunistic infections skos:exactMatch Orphanet:183663 Hyper-IgM syndrome with susceptibility to opportunistic infections semapv:UnspecifiedMatching MONDO:0015976 obsolete hyper-IgM syndrome without susceptibility to opportunistic infections skos:exactMatch Orphanet:183666 Hyper-IgM syndrome without susceptibility to opportunistic infections semapv:UnspecifiedMatching MONDO:0015977 agammaglobulinemia skos:exactMatch DOID:2583 agammaglobulinemia semapv:UnspecifiedMatching MONDO:0015977 agammaglobulinemia skos:exactMatch MEDGEN:168 semapv:UnspecifiedMatching MONDO:0015977 agammaglobulinemia skos:exactMatch OMIMPS:601495 Agammaglobulinemia semapv:UnspecifiedMatching MONDO:0015977 agammaglobulinemia skos:exactMatch Orphanet:183669 Agammaglobulinemia semapv:UnspecifiedMatching MONDO:0015977 agammaglobulinemia skos:exactMatch UMLS:C0001768 semapv:UnspecifiedMatching MONDO:0015977 agammaglobulinemia skos:exactMatch mesh:D000361 semapv:UnspecifiedMatching MONDO:0015978 functional neutrophil defect skos:exactMatch MEDGEN:1863601 semapv:UnspecifiedMatching MONDO:0015978 functional neutrophil defect skos:exactMatch Orphanet:183681 Congenital functional phagocyte defect semapv:UnspecifiedMatching MONDO:0015978 functional neutrophil defect skos:exactMatch SCTID:105600002 semapv:UnspecifiedMatching MONDO:0015978 functional neutrophil defect skos:exactMatch UMLS:C5924997 semapv:UnspecifiedMatching MONDO:0015978 functional neutrophil defect skos:exactMatch icd11.foundation:808756909 Functional neutrophil defects semapv:UnspecifiedMatching MONDO:0015979 obsolete hereditary predisposition to infections skos:exactMatch Orphanet:183710 Genetic susceptibility to infections due to particular pathogens semapv:UnspecifiedMatching MONDO:0015980 obsolete rare genetic gynecological and obstetrical diseases skos:exactMatch Orphanet:183731 Rare genetic gynecological and obstetrical diseases semapv:UnspecifiedMatching MONDO:0015981 obsolete inherited gynecological tumor skos:exactMatch Orphanet:183734 Genetic gynecological tumor semapv:UnspecifiedMatching MONDO:0015982 obsolete rare genetic intellectual disability skos:exactMatch Orphanet:183757 Rare genetic intellectual disability semapv:UnspecifiedMatching MONDO:0015983 obsolete rare genetic syndromic intellectual disability skos:exactMatch Orphanet:183763 Rare genetic syndromic intellectual disability semapv:UnspecifiedMatching MONDO:0015984 obsolete rare genetic immune disease skos:exactMatch Orphanet:183770 Rare genetic immune disease semapv:UnspecifiedMatching MONDO:0015985 obsolete bone dysplasia, Azouz type skos:exactMatch Orphanet:1844 OBSOLETE: Bone dysplasia, Azouz type semapv:UnspecifiedMatching MONDO:0015985 obsolete bone dysplasia, Azouz type skos:exactMatch SCTID:720566004 semapv:UnspecifiedMatching MONDO:0015985 obsolete bone dysplasia, Azouz type skos:exactMatch icd11.foundation:2054115498 Bone dysplasia, Azouz type semapv:UnspecifiedMatching MONDO:0015986 bilateral renal agenesis skos:exactMatch DOID:0080200 bilateral renal aplasia semapv:UnspecifiedMatching MONDO:0015986 bilateral renal agenesis skos:exactMatch ICD10CM:Q60.1 Renal agenesis, bilateral semapv:UnspecifiedMatching MONDO:0015986 bilateral renal agenesis skos:exactMatch MEDGEN:296299 semapv:UnspecifiedMatching MONDO:0015986 bilateral renal agenesis skos:exactMatch NCIT:C101219 Bilateral Renal Agenesis semapv:UnspecifiedMatching MONDO:0015986 bilateral renal agenesis skos:exactMatch Orphanet:1848 Renal agenesis, bilateral semapv:UnspecifiedMatching MONDO:0015986 bilateral renal agenesis skos:exactMatch UMLS:C1609433 semapv:UnspecifiedMatching MONDO:0015987 scimitar syndrome skos:exactMatch EFO:1001167 semapv:UnspecifiedMatching MONDO:0015987 scimitar syndrome skos:exactMatch MEDGEN:20675 semapv:UnspecifiedMatching MONDO:0015987 scimitar syndrome skos:exactMatch NCIT:C85056 Scimitar Syndrome semapv:UnspecifiedMatching MONDO:0015987 scimitar syndrome skos:exactMatch Orphanet:185 Scimitar syndrome semapv:UnspecifiedMatching MONDO:0015987 scimitar syndrome skos:exactMatch SCTID:39905002 semapv:UnspecifiedMatching MONDO:0015987 scimitar syndrome skos:exactMatch UMLS:C0036400 semapv:UnspecifiedMatching MONDO:0015987 scimitar syndrome skos:exactMatch icd11.foundation:1321054364 Scimitar syndrome semapv:UnspecifiedMatching MONDO:0015987 scimitar syndrome skos:exactMatch mesh:D012587 semapv:UnspecifiedMatching MONDO:0015988 multicystic dysplastic kidney skos:exactMatch MEDGEN:811388 semapv:UnspecifiedMatching MONDO:0015988 multicystic dysplastic kidney skos:exactMatch NCIT:C123031 Multicystic Dysplastic Kidney semapv:UnspecifiedMatching MONDO:0015988 multicystic dysplastic kidney skos:exactMatch Orphanet:1851 Multicystic dysplastic kidney semapv:UnspecifiedMatching MONDO:0015988 multicystic dysplastic kidney skos:exactMatch SCTID:204962002 semapv:UnspecifiedMatching MONDO:0015988 multicystic dysplastic kidney skos:exactMatch UMLS:C3714581 semapv:UnspecifiedMatching MONDO:0015988 multicystic dysplastic kidney skos:exactMatch icd11.foundation:1178642763 Multicystic renal dysplasia semapv:UnspecifiedMatching MONDO:0015988 multicystic dysplastic kidney skos:exactMatch mesh:D021782 semapv:UnspecifiedMatching MONDO:0015990 focal, segmental or multifocal dystonia skos:exactMatch MEDGEN:1842644 semapv:UnspecifiedMatching MONDO:0015990 focal, segmental or multifocal dystonia skos:exactMatch Orphanet:1866 Focal, segmental or multifocal dystonia semapv:UnspecifiedMatching MONDO:0015990 focal, segmental or multifocal dystonia skos:exactMatch UMLS:C5680914 semapv:UnspecifiedMatching MONDO:0015991 citrullinemia skos:exactMatch DOID:9273 citrullinemia semapv:UnspecifiedMatching MONDO:0015991 citrullinemia skos:exactMatch ICD10CM:E72.23 Citrullinemia semapv:UnspecifiedMatching MONDO:0015991 citrullinemia skos:exactMatch MEDGEN:104491 semapv:UnspecifiedMatching MONDO:0015991 citrullinemia skos:exactMatch NCIT:C84639 Citrullinemia semapv:UnspecifiedMatching MONDO:0015991 citrullinemia skos:exactMatch OMIMPS:215700 semapv:UnspecifiedMatching MONDO:0015991 citrullinemia skos:exactMatch Orphanet:187 Citrullinemia semapv:UnspecifiedMatching MONDO:0015991 citrullinemia skos:exactMatch SCTID:124711003 semapv:UnspecifiedMatching MONDO:0015991 citrullinemia skos:exactMatch UMLS:C0175683 semapv:UnspecifiedMatching MONDO:0015991 citrullinemia skos:exactMatch icd11.foundation:640937125 Citrullinaemia semapv:UnspecifiedMatching MONDO:0015991 citrullinemia skos:exactMatch mesh:D020159 semapv:UnspecifiedMatching MONDO:0015993 cone-rod dystrophy skos:exactMatch DOID:0050572 cone-rod dystrophy semapv:UnspecifiedMatching MONDO:0015993 cone-rod dystrophy skos:exactMatch MEDGEN:896366 semapv:UnspecifiedMatching MONDO:0015993 cone-rod dystrophy skos:exactMatch OMIMPS:120970 Cone-rod dystrophy/Cone dystrophy semapv:UnspecifiedMatching MONDO:0015993 cone-rod dystrophy skos:exactMatch Orphanet:1872 Cone rod dystrophy semapv:UnspecifiedMatching MONDO:0015993 cone-rod dystrophy skos:exactMatch UMLS:C4085590 semapv:UnspecifiedMatching MONDO:0015993 cone-rod dystrophy skos:exactMatch mesh:D000071700 semapv:UnspecifiedMatching MONDO:0015995 melorheostosis with osteopoikilosis skos:exactMatch MEDGEN:461045 semapv:UnspecifiedMatching MONDO:0015995 melorheostosis with osteopoikilosis skos:exactMatch Orphanet:1879 Melorheostosis with osteopoikilosis semapv:UnspecifiedMatching MONDO:0015995 melorheostosis with osteopoikilosis skos:exactMatch UMLS:C3149695 semapv:UnspecifiedMatching MONDO:0015995 melorheostosis with osteopoikilosis skos:exactMatch icd11.foundation:152942585 Melorheostosis with osteopoikilosis semapv:UnspecifiedMatching MONDO:0015995 melorheostosis with osteopoikilosis skos:exactMatch mesh:C563593 semapv:UnspecifiedMatching MONDO:0015997 ectopia lentis-chorioretinal dystrophy-myopia syndrome skos:exactMatch MEDGEN:419715 semapv:UnspecifiedMatching MONDO:0015997 ectopia lentis-chorioretinal dystrophy-myopia syndrome skos:exactMatch Orphanet:1884 Ectopia lentis-chorioretinal dystrophy-myopia syndrome semapv:UnspecifiedMatching MONDO:0015997 ectopia lentis-chorioretinal dystrophy-myopia syndrome skos:exactMatch SCTID:722437006 semapv:UnspecifiedMatching MONDO:0015997 ectopia lentis-chorioretinal dystrophy-myopia syndrome skos:exactMatch UMLS:C2931115 semapv:UnspecifiedMatching MONDO:0015997 ectopia lentis-chorioretinal dystrophy-myopia syndrome skos:exactMatch mesh:C536124 semapv:UnspecifiedMatching MONDO:0015998 isolated ectopia lentis skos:exactMatch DOID:0111148 isolated ectopia lentis semapv:UnspecifiedMatching MONDO:0015998 isolated ectopia lentis skos:exactMatch MEDGEN:342716 semapv:UnspecifiedMatching MONDO:0015998 isolated ectopia lentis skos:exactMatch NCIT:C34566 Congenital Ectopic Lens semapv:UnspecifiedMatching MONDO:0015998 isolated ectopia lentis skos:exactMatch Orphanet:1885 Isolated ectopia lentis semapv:UnspecifiedMatching MONDO:0015998 isolated ectopia lentis skos:exactMatch SCTID:74969002 semapv:UnspecifiedMatching MONDO:0015998 isolated ectopia lentis skos:exactMatch UMLS:C1851286 semapv:UnspecifiedMatching MONDO:0015998 isolated ectopia lentis skos:exactMatch mesh:C536184 semapv:UnspecifiedMatching MONDO:0015999 primary pigmented nodular adrenocortical disease skos:exactMatch DOID:0060280 primary pigmented nodular adrenocortical disease semapv:UnspecifiedMatching MONDO:0015999 primary pigmented nodular adrenocortical disease skos:exactMatch MEDGEN:930501 semapv:UnspecifiedMatching MONDO:0015999 primary pigmented nodular adrenocortical disease skos:exactMatch NCIT:C131196 Primary Pigmented Nodular Adrenal Dysplasia semapv:UnspecifiedMatching MONDO:0015999 primary pigmented nodular adrenocortical disease skos:exactMatch OMIMPS:610489 Pigmented nodular adrenocortical disease, primary semapv:UnspecifiedMatching MONDO:0015999 primary pigmented nodular adrenocortical disease skos:exactMatch SCTID:719274008 semapv:UnspecifiedMatching MONDO:0015999 primary pigmented nodular adrenocortical disease skos:exactMatch UMLS:C4304832 semapv:UnspecifiedMatching MONDO:0015999 primary pigmented nodular adrenocortical disease skos:exactMatch icd11.foundation:2003695246 Primary pigmented nodular adrenocortical disease semapv:UnspecifiedMatching MONDO:0016000 familial isolated hypoparathyroidism due to impaired PTH secretion skos:exactMatch MEDGEN:1843283 semapv:UnspecifiedMatching MONDO:0016000 familial isolated hypoparathyroidism due to impaired PTH secretion skos:exactMatch Orphanet:189466 Familial isolated hypoparathyroidism due to impaired PTH secretion semapv:UnspecifiedMatching MONDO:0016000 familial isolated hypoparathyroidism due to impaired PTH secretion skos:exactMatch UMLS:C5680524 semapv:UnspecifiedMatching MONDO:0016001 2-hydroxyglutaric aciduria skos:exactMatch DOID:0050573 2-hydroxyglutaric aciduria semapv:UnspecifiedMatching MONDO:0016001 2-hydroxyglutaric aciduria skos:exactMatch MEDGEN:412535 semapv:UnspecifiedMatching MONDO:0016001 2-hydroxyglutaric aciduria skos:exactMatch NCIT:C128187 2-Hydroxyglutaric Aciduria semapv:UnspecifiedMatching MONDO:0016001 2-hydroxyglutaric aciduria skos:exactMatch Orphanet:19 2-hydroxyglutaric aciduria semapv:UnspecifiedMatching MONDO:0016001 2-hydroxyglutaric aciduria skos:exactMatch SCTID:698870008 semapv:UnspecifiedMatching MONDO:0016001 2-hydroxyglutaric aciduria skos:exactMatch UMLS:C2746066 semapv:UnspecifiedMatching MONDO:0016001 2-hydroxyglutaric aciduria skos:exactMatch mesh:C535306 semapv:UnspecifiedMatching MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 skos:exactMatch DOID:0080734 Ehlers-Danlos syndrome kyphoscoliotic type 1 semapv:UnspecifiedMatching MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 skos:exactMatch MEDGEN:75672 semapv:UnspecifiedMatching MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 skos:exactMatch NCIT:C125700 Ehlers-Danlos Syndrome, Type VI semapv:UnspecifiedMatching MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 skos:exactMatch OMIM:225400 ehlers-danlos syndrome, kyphoscoliotic type, 1 semapv:UnspecifiedMatching MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 skos:exactMatch Orphanet:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency semapv:UnspecifiedMatching MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 skos:exactMatch SCTID:718211004 semapv:UnspecifiedMatching MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 skos:exactMatch UMLS:C0268342 semapv:UnspecifiedMatching MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 skos:exactMatch mesh:C536198 semapv:UnspecifiedMatching MONDO:0016003 ehrlichiosis skos:exactMatch DOID:10242 ehrlichiosis semapv:UnspecifiedMatching MONDO:0016003 ehrlichiosis skos:exactMatch ICD10CM:A77.4 Ehrlichiosis semapv:UnspecifiedMatching MONDO:0016003 ehrlichiosis skos:exactMatch MEDGEN:39039 semapv:UnspecifiedMatching MONDO:0016003 ehrlichiosis skos:exactMatch Orphanet:1902 Ehrlichiosis semapv:UnspecifiedMatching MONDO:0016003 ehrlichiosis skos:exactMatch SCTID:240626005 semapv:UnspecifiedMatching MONDO:0016003 ehrlichiosis skos:exactMatch UMLS:C0085399 semapv:UnspecifiedMatching MONDO:0016003 ehrlichiosis skos:exactMatch icd11.foundation:1116297863 Ehrlichiosis semapv:UnspecifiedMatching MONDO:0016003 ehrlichiosis skos:exactMatch mesh:D016873 semapv:UnspecifiedMatching MONDO:0016004 aminopterin/methotrexate embryofetopathy skos:exactMatch MEDGEN:98491 semapv:UnspecifiedMatching MONDO:0016004 aminopterin/methotrexate embryofetopathy skos:exactMatch NCIT:C98928 Fetal Methotrexate Syndrome semapv:UnspecifiedMatching MONDO:0016004 aminopterin/methotrexate embryofetopathy skos:exactMatch Orphanet:1908 Aminopterin/methotrexate embryofetopathy semapv:UnspecifiedMatching MONDO:0016004 aminopterin/methotrexate embryofetopathy skos:exactMatch SCTID:65986000 semapv:UnspecifiedMatching MONDO:0016004 aminopterin/methotrexate embryofetopathy skos:exactMatch UMLS:C0432367 semapv:UnspecifiedMatching MONDO:0016005 indomethacin embryofetopathy skos:exactMatch MEDGEN:903069 semapv:UnspecifiedMatching MONDO:0016005 indomethacin embryofetopathy skos:exactMatch Orphanet:1909 Indomethacin embryofetopathy semapv:UnspecifiedMatching MONDO:0016005 indomethacin embryofetopathy skos:exactMatch SCTID:715430001 semapv:UnspecifiedMatching MONDO:0016005 indomethacin embryofetopathy skos:exactMatch UMLS:C4275138 semapv:UnspecifiedMatching MONDO:0016005 indomethacin embryofetopathy skos:exactMatch icd11.foundation:1929563114 Indomethacin embryofetopathy semapv:UnspecifiedMatching MONDO:0016006 Cockayne syndrome skos:exactMatch DOID:2962 Cockayne syndrome semapv:UnspecifiedMatching MONDO:0016006 Cockayne syndrome skos:exactMatch MEDGEN:40363 semapv:UnspecifiedMatching MONDO:0016006 Cockayne syndrome skos:exactMatch NCIT:C9460 Cockayne Syndrome semapv:UnspecifiedMatching MONDO:0016006 Cockayne syndrome skos:exactMatch Orphanet:191 Cockayne syndrome semapv:UnspecifiedMatching MONDO:0016006 Cockayne syndrome skos:exactMatch SCTID:21086008 semapv:UnspecifiedMatching MONDO:0016006 Cockayne syndrome skos:exactMatch UMLS:C0009207 semapv:UnspecifiedMatching MONDO:0016006 Cockayne syndrome skos:exactMatch icd11.foundation:1206275070 Cockayne syndrome semapv:UnspecifiedMatching MONDO:0016006 Cockayne syndrome skos:exactMatch mesh:D003057 semapv:UnspecifiedMatching MONDO:0016007 cocaine embryofetopathy skos:exactMatch MEDGEN:140937 semapv:UnspecifiedMatching MONDO:0016007 cocaine embryofetopathy skos:exactMatch Orphanet:1911 Cocaine embryofetopathy semapv:UnspecifiedMatching MONDO:0016007 cocaine embryofetopathy skos:exactMatch SCTID:254250002 semapv:UnspecifiedMatching MONDO:0016007 cocaine embryofetopathy skos:exactMatch UMLS:C0432371 semapv:UnspecifiedMatching MONDO:0016007 cocaine embryofetopathy skos:exactMatch icd11.foundation:1604796846 Cocaine embryofetopathy semapv:UnspecifiedMatching MONDO:0016008 fetal hydantoin syndrome skos:exactMatch ICD10CM:Q86.1 Fetal hydantoin syndrome semapv:UnspecifiedMatching MONDO:0016008 fetal hydantoin syndrome skos:exactMatch MEDGEN:75569 semapv:UnspecifiedMatching MONDO:0016008 fetal hydantoin syndrome skos:exactMatch NCIT:C98927 Fetal Hydantoin Syndrome semapv:UnspecifiedMatching MONDO:0016008 fetal hydantoin syndrome skos:exactMatch Orphanet:1912 Fetal hydantoin syndrome semapv:UnspecifiedMatching MONDO:0016008 fetal hydantoin syndrome skos:exactMatch SCTID:70065001 semapv:UnspecifiedMatching MONDO:0016008 fetal hydantoin syndrome skos:exactMatch UMLS:C0265372 semapv:UnspecifiedMatching MONDO:0016008 fetal hydantoin syndrome skos:exactMatch icd11.foundation:1894344911 Fetal hydantoin syndrome semapv:UnspecifiedMatching MONDO:0016008 fetal hydantoin syndrome skos:exactMatch mesh:C537922 semapv:UnspecifiedMatching MONDO:0016009 fetal trimethadione syndrome skos:exactMatch MEDGEN:120538 semapv:UnspecifiedMatching MONDO:0016009 fetal trimethadione syndrome skos:exactMatch Orphanet:1913 Fetal trimethadione syndrome semapv:UnspecifiedMatching MONDO:0016009 fetal trimethadione syndrome skos:exactMatch SCTID:66351003 semapv:UnspecifiedMatching MONDO:0016009 fetal trimethadione syndrome skos:exactMatch UMLS:C0265373 semapv:UnspecifiedMatching MONDO:0016009 fetal trimethadione syndrome skos:exactMatch icd11.foundation:1743242235 Fetal trimethadione syndrome semapv:UnspecifiedMatching MONDO:0016009 fetal trimethadione syndrome skos:exactMatch mesh:C537798 semapv:UnspecifiedMatching MONDO:0016010 vitamin K-antagonist embryofetopathy skos:exactMatch MEDGEN:75570 semapv:UnspecifiedMatching MONDO:0016010 vitamin K-antagonist embryofetopathy skos:exactMatch NCIT:C98906 Fetal Warfarin Syndrome semapv:UnspecifiedMatching MONDO:0016010 vitamin K-antagonist embryofetopathy skos:exactMatch Orphanet:1914 Vitamin K antagonist embryofetopathy semapv:UnspecifiedMatching MONDO:0016010 vitamin K-antagonist embryofetopathy skos:exactMatch SCTID:38323006 semapv:UnspecifiedMatching MONDO:0016010 vitamin K-antagonist embryofetopathy skos:exactMatch UMLS:C0265374 semapv:UnspecifiedMatching MONDO:0016010 vitamin K-antagonist embryofetopathy skos:exactMatch icd11.foundation:71579696 Embryofetopathy due to oral anticoagulant therapy semapv:UnspecifiedMatching MONDO:0016010 vitamin K-antagonist embryofetopathy skos:exactMatch mesh:C536683 semapv:UnspecifiedMatching MONDO:0016011 fetal alcohol syndrome skos:exactMatch DOID:0050665 fetal alcohol syndrome semapv:UnspecifiedMatching MONDO:0016011 fetal alcohol syndrome skos:exactMatch DOID:0050667 alcohol-related neurodevelopmental disorder semapv:UnspecifiedMatching MONDO:0016011 fetal alcohol syndrome skos:exactMatch ICD10CM:Q86.0 Fetal alcohol syndrome (dysmorphic) semapv:UnspecifiedMatching MONDO:0016011 fetal alcohol syndrome skos:exactMatch MEDGEN:8820 semapv:UnspecifiedMatching MONDO:0016011 fetal alcohol syndrome skos:exactMatch NCIT:C84713 Fetal Alcohol Syndrome semapv:UnspecifiedMatching MONDO:0016011 fetal alcohol syndrome skos:exactMatch Orphanet:1915 Fetal alcohol syndrome semapv:UnspecifiedMatching MONDO:0016011 fetal alcohol syndrome skos:exactMatch SCTID:205788004 semapv:UnspecifiedMatching MONDO:0016011 fetal alcohol syndrome skos:exactMatch UMLS:C0015923 semapv:UnspecifiedMatching MONDO:0016011 fetal alcohol syndrome skos:exactMatch icd11.foundation:362980699 Fetal alcohol syndrome semapv:UnspecifiedMatching MONDO:0016012 diethylstilbestrol syndrome skos:exactMatch MEDGEN:799290 semapv:UnspecifiedMatching MONDO:0016012 diethylstilbestrol syndrome skos:exactMatch NCIT:C113422 Diethylstilbestrol Syndrome semapv:UnspecifiedMatching MONDO:0016012 diethylstilbestrol syndrome skos:exactMatch Orphanet:1916 Diethylstilbestrol syndrome semapv:UnspecifiedMatching MONDO:0016012 diethylstilbestrol syndrome skos:exactMatch SCTID:716005004 semapv:UnspecifiedMatching MONDO:0016012 diethylstilbestrol syndrome skos:exactMatch UMLS:C0853695 semapv:UnspecifiedMatching MONDO:0016012 diethylstilbestrol syndrome skos:exactMatch icd11.foundation:1134098724 Uterovaginal malformation due to diethylstilbestrol syndrome semapv:UnspecifiedMatching MONDO:0016013 fetal methylmercury syndrome skos:exactMatch MEDGEN:82710 semapv:UnspecifiedMatching MONDO:0016013 fetal methylmercury syndrome skos:exactMatch Orphanet:1917 Fetal methylmercury syndrome semapv:UnspecifiedMatching MONDO:0016013 fetal methylmercury syndrome skos:exactMatch SCTID:62110005 semapv:UnspecifiedMatching MONDO:0016013 fetal methylmercury syndrome skos:exactMatch UMLS:C0265376 semapv:UnspecifiedMatching MONDO:0016013 fetal methylmercury syndrome skos:exactMatch icd11.foundation:1975519045 Fetal methylmercury syndrome semapv:UnspecifiedMatching MONDO:0016013 fetal methylmercury syndrome skos:exactMatch mesh:D020262 semapv:UnspecifiedMatching MONDO:0016014 fetal minoxidil syndrome skos:exactMatch MEDGEN:96601 semapv:UnspecifiedMatching MONDO:0016014 fetal minoxidil syndrome skos:exactMatch Orphanet:1918 Fetal minoxidil syndrome semapv:UnspecifiedMatching MONDO:0016014 fetal minoxidil syndrome skos:exactMatch SCTID:254251003 semapv:UnspecifiedMatching MONDO:0016014 fetal minoxidil syndrome skos:exactMatch UMLS:C0432373 semapv:UnspecifiedMatching MONDO:0016014 fetal minoxidil syndrome skos:exactMatch icd11.foundation:4930572 Fetal minoxidil syndrome semapv:UnspecifiedMatching MONDO:0016015 phenobarbital embryopathy skos:exactMatch MEDGEN:895102 semapv:UnspecifiedMatching MONDO:0016015 phenobarbital embryopathy skos:exactMatch Orphanet:1919 Phenobarbital embryopathy semapv:UnspecifiedMatching MONDO:0016015 phenobarbital embryopathy skos:exactMatch SCTID:715431002 semapv:UnspecifiedMatching MONDO:0016015 phenobarbital embryopathy skos:exactMatch UMLS:C4275281 semapv:UnspecifiedMatching MONDO:0016015 phenobarbital embryopathy skos:exactMatch icd11.foundation:1602901948 Phenobarbital embryopathy semapv:UnspecifiedMatching MONDO:0016016 toluene embryopathy skos:exactMatch MEDGEN:444131 semapv:UnspecifiedMatching MONDO:0016016 toluene embryopathy skos:exactMatch Orphanet:1920 Toluene embryopathy semapv:UnspecifiedMatching MONDO:0016016 toluene embryopathy skos:exactMatch UMLS:C2931737 semapv:UnspecifiedMatching MONDO:0016016 toluene embryopathy skos:exactMatch icd11.foundation:1446076607 Toluene embryopathy semapv:UnspecifiedMatching MONDO:0016016 toluene embryopathy skos:exactMatch mesh:C538114 semapv:UnspecifiedMatching MONDO:0016017 methimazole embryofetopathy skos:exactMatch MEDGEN:1388574 semapv:UnspecifiedMatching MONDO:0016017 methimazole embryofetopathy skos:exactMatch Orphanet:1923 Methimazole embryofetopathy semapv:UnspecifiedMatching MONDO:0016017 methimazole embryofetopathy skos:exactMatch SCTID:724144006 semapv:UnspecifiedMatching MONDO:0016017 methimazole embryofetopathy skos:exactMatch UMLS:C4510379 semapv:UnspecifiedMatching MONDO:0016017 methimazole embryofetopathy skos:exactMatch icd11.foundation:1204409156 Methimazole embryofetopathy semapv:UnspecifiedMatching MONDO:0016018 diabetic embryopathy skos:exactMatch MEDGEN:823266 semapv:UnspecifiedMatching MONDO:0016018 diabetic embryopathy skos:exactMatch NCIT:C113485 Diabetic Embryopathy semapv:UnspecifiedMatching MONDO:0016018 diabetic embryopathy skos:exactMatch Orphanet:1926 Diabetic embryopathy semapv:UnspecifiedMatching MONDO:0016018 diabetic embryopathy skos:exactMatch SCTID:716020005 semapv:UnspecifiedMatching MONDO:0016018 diabetic embryopathy skos:exactMatch UMLS:C3830518 semapv:UnspecifiedMatching MONDO:0016018 diabetic embryopathy skos:exactMatch icd11.foundation:778367655 Diabetic embryopathy semapv:UnspecifiedMatching MONDO:0016019 Rasmussen subacute encephalitis skos:exactMatch MEDGEN:418934 semapv:UnspecifiedMatching MONDO:0016019 Rasmussen subacute encephalitis skos:exactMatch NCIT:C125384 Rasmussen Subacute Encephalitis semapv:UnspecifiedMatching MONDO:0016019 Rasmussen subacute encephalitis skos:exactMatch Orphanet:1929 Rasmussen subacute encephalitis semapv:UnspecifiedMatching MONDO:0016019 Rasmussen subacute encephalitis skos:exactMatch SCTID:230191005 semapv:UnspecifiedMatching MONDO:0016019 Rasmussen subacute encephalitis skos:exactMatch UMLS:C2930868 semapv:UnspecifiedMatching MONDO:0016019 Rasmussen subacute encephalitis skos:exactMatch mesh:C535291 semapv:UnspecifiedMatching MONDO:0016020 frontal encephalocele skos:exactMatch ICD10CM:Q01.0 Frontal encephalocele semapv:UnspecifiedMatching MONDO:0016020 frontal encephalocele skos:exactMatch MEDGEN:98460 semapv:UnspecifiedMatching MONDO:0016020 frontal encephalocele skos:exactMatch Orphanet:1931 Frontal encephalocele semapv:UnspecifiedMatching MONDO:0016020 frontal encephalocele skos:exactMatch SCTID:253103006 semapv:UnspecifiedMatching MONDO:0016020 frontal encephalocele skos:exactMatch UMLS:C0431289 semapv:UnspecifiedMatching MONDO:0016020 frontal encephalocele skos:exactMatch icd11.foundation:1375023725 Frontal encephalocele semapv:UnspecifiedMatching MONDO:0016026 infant epilepsy with migrant focal crisis skos:exactMatch MEDGEN:1390817 semapv:UnspecifiedMatching MONDO:0016026 infant epilepsy with migrant focal crisis skos:exactMatch Orphanet:1943 Early-onset progressive encephalopathy with migrant continuous myoclonus semapv:UnspecifiedMatching MONDO:0016026 infant epilepsy with migrant focal crisis skos:exactMatch SCTID:724274009 semapv:UnspecifiedMatching MONDO:0016026 infant epilepsy with migrant focal crisis skos:exactMatch UMLS:C4510564 semapv:UnspecifiedMatching MONDO:0016027 benign neonatal seizures skos:exactMatch DOID:14264 benign neonatal seizures semapv:UnspecifiedMatching MONDO:0016027 benign neonatal seizures skos:exactMatch DOID:14777 benign familial neonatal epilepsy semapv:UnspecifiedMatching MONDO:0016027 benign neonatal seizures skos:exactMatch MEDGEN:65082 semapv:UnspecifiedMatching MONDO:0016027 benign neonatal seizures skos:exactMatch NCIT:C117307 Benign Familial Convulsion semapv:UnspecifiedMatching MONDO:0016027 benign neonatal seizures skos:exactMatch OMIMPS:121200 Seizures, benign familial neonatal semapv:UnspecifiedMatching MONDO:0016027 benign neonatal seizures skos:exactMatch Orphanet:1949 Self-limited neonatal epilepsy semapv:UnspecifiedMatching MONDO:0016027 benign neonatal seizures skos:exactMatch SCTID:279953009 semapv:UnspecifiedMatching MONDO:0016027 benign neonatal seizures skos:exactMatch SCTID:38281008 semapv:UnspecifiedMatching MONDO:0016027 benign neonatal seizures skos:exactMatch UMLS:C0220669 semapv:UnspecifiedMatching MONDO:0016028 erythromelalgia skos:exactMatch DOID:9240 erythromelalgia semapv:UnspecifiedMatching MONDO:0016028 erythromelalgia skos:exactMatch ICD10CM:I73.81 Erythromelalgia semapv:UnspecifiedMatching MONDO:0016028 erythromelalgia skos:exactMatch MEDGEN:8687 semapv:UnspecifiedMatching MONDO:0016028 erythromelalgia skos:exactMatch NCIT:C34593 Erythromelalgia semapv:UnspecifiedMatching MONDO:0016028 erythromelalgia skos:exactMatch SCTID:37151006 semapv:UnspecifiedMatching MONDO:0016028 erythromelalgia skos:exactMatch UMLS:C0014804 semapv:UnspecifiedMatching MONDO:0016028 erythromelalgia skos:exactMatch icd11.foundation:838760425 Erythromelalgia semapv:UnspecifiedMatching MONDO:0016028 erythromelalgia skos:exactMatch mesh:D004916 semapv:UnspecifiedMatching MONDO:0016029 esthesioneuroblastoma skos:exactMatch MEDGEN:60217 semapv:UnspecifiedMatching MONDO:0016029 esthesioneuroblastoma skos:exactMatch Orphanet:1957 Esthesioneuroblastoma semapv:UnspecifiedMatching MONDO:0016029 esthesioneuroblastoma skos:exactMatch SCTID:422886007 semapv:UnspecifiedMatching MONDO:0016029 esthesioneuroblastoma skos:exactMatch UMLS:C0206717 semapv:UnspecifiedMatching MONDO:0016030 Evans syndrome skos:exactMatch DOID:8931 Evans' syndrome semapv:UnspecifiedMatching MONDO:0016030 Evans syndrome skos:exactMatch ICD10CM:D69.41 Evans syndrome semapv:UnspecifiedMatching MONDO:0016030 Evans syndrome skos:exactMatch MEDGEN:75773 semapv:UnspecifiedMatching MONDO:0016030 Evans syndrome skos:exactMatch NCIT:C61284 Evans Syndrome semapv:UnspecifiedMatching MONDO:0016030 Evans syndrome skos:exactMatch Orphanet:1959 Evans syndrome semapv:UnspecifiedMatching MONDO:0016030 Evans syndrome skos:exactMatch SCTID:75331009 semapv:UnspecifiedMatching MONDO:0016030 Evans syndrome skos:exactMatch UMLS:C0272126 semapv:UnspecifiedMatching MONDO:0016030 Evans syndrome skos:exactMatch icd11.foundation:1048228553 Evans syndrome semapv:UnspecifiedMatching MONDO:0016030 Evans syndrome skos:exactMatch mesh:C536380 semapv:UnspecifiedMatching MONDO:0016031 facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome skos:exactMatch MEDGEN:419355 semapv:UnspecifiedMatching MONDO:0016031 facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome skos:exactMatch Orphanet:1969 Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome semapv:UnspecifiedMatching MONDO:0016031 facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome skos:exactMatch UMLS:C2931183 semapv:UnspecifiedMatching MONDO:0016031 facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome skos:exactMatch mesh:C536384 semapv:UnspecifiedMatching MONDO:0016032 femoral agenesis/hypoplasia skos:exactMatch MEDGEN:87499 semapv:UnspecifiedMatching MONDO:0016032 femoral agenesis/hypoplasia skos:exactMatch Orphanet:1987 Isolated femoral agenesis/hypoplasia semapv:UnspecifiedMatching MONDO:0016032 femoral agenesis/hypoplasia skos:exactMatch SCTID:93255008 semapv:UnspecifiedMatching MONDO:0016032 femoral agenesis/hypoplasia skos:exactMatch UMLS:C0345375 semapv:UnspecifiedMatching MONDO:0016032 femoral agenesis/hypoplasia skos:exactMatch icd11.foundation:662157487 Femoral agenesis or hypoplasia semapv:UnspecifiedMatching MONDO:0016033 Cornelia de Lange syndrome skos:exactMatch DOID:11725 Cornelia de Lange syndrome semapv:UnspecifiedMatching MONDO:0016033 Cornelia de Lange syndrome skos:exactMatch MEDGEN:78752 semapv:UnspecifiedMatching MONDO:0016033 Cornelia de Lange syndrome skos:exactMatch NCIT:C75016 Cornelia De Lange Syndrome semapv:UnspecifiedMatching MONDO:0016033 Cornelia de Lange syndrome skos:exactMatch OMIMPS:122470 Cornelia de Lange syndrome semapv:UnspecifiedMatching MONDO:0016033 Cornelia de Lange syndrome skos:exactMatch Orphanet:199 Cornelia de Lange syndrome semapv:UnspecifiedMatching MONDO:0016033 Cornelia de Lange syndrome skos:exactMatch UMLS:C0270972 semapv:UnspecifiedMatching MONDO:0016033 Cornelia de Lange syndrome skos:exactMatch icd11.foundation:1801560012 Cornelia de Lange syndrome semapv:UnspecifiedMatching MONDO:0016034 obsolete cleft lip with or without cleft palate skos:exactMatch Orphanet:1991 Cleft lip with or without cleft palate semapv:UnspecifiedMatching MONDO:0016035 Nelson syndrome skos:exactMatch DOID:4968 Nelson syndrome semapv:UnspecifiedMatching MONDO:0016035 Nelson syndrome skos:exactMatch ICD10CM:E24.1 Nelson's syndrome semapv:UnspecifiedMatching MONDO:0016035 Nelson syndrome skos:exactMatch MEDGEN:342174 semapv:UnspecifiedMatching MONDO:0016035 Nelson syndrome skos:exactMatch NCIT:C84917 Nelson Syndrome semapv:UnspecifiedMatching MONDO:0016035 Nelson syndrome skos:exactMatch Orphanet:199244 Nelson syndrome semapv:UnspecifiedMatching MONDO:0016035 Nelson syndrome skos:exactMatch SCTID:43019009 semapv:UnspecifiedMatching MONDO:0016035 Nelson syndrome skos:exactMatch UMLS:C1852159 semapv:UnspecifiedMatching MONDO:0016035 Nelson syndrome skos:exactMatch icd11.foundation:1945677910 Nelson syndrome semapv:UnspecifiedMatching MONDO:0016035 Nelson syndrome skos:exactMatch mesh:C531754 semapv:UnspecifiedMatching MONDO:0016035 Nelson syndrome skos:exactMatch mesh:D009347 semapv:UnspecifiedMatching MONDO:0016037 superficial Fibromatosis skos:exactMatch EFO:1000556 semapv:UnspecifiedMatching MONDO:0016037 superficial Fibromatosis skos:exactMatch MEDGEN:140804 semapv:UnspecifiedMatching MONDO:0016037 superficial Fibromatosis skos:exactMatch NCIT:C6814 Superficial Fibromatosis semapv:UnspecifiedMatching MONDO:0016037 superficial Fibromatosis skos:exactMatch Orphanet:199257 Superficial fibromatosis semapv:UnspecifiedMatching MONDO:0016037 superficial Fibromatosis skos:exactMatch SCTID:238853007 semapv:UnspecifiedMatching MONDO:0016037 superficial Fibromatosis skos:exactMatch UMLS:C0406571 semapv:UnspecifiedMatching MONDO:0016038 calcified aponeurotic fibroma skos:exactMatch MEDGEN:107818 semapv:UnspecifiedMatching MONDO:0016038 calcified aponeurotic fibroma skos:exactMatch NCIT:C4818 Calcifying Aponeurotic Fibroma semapv:UnspecifiedMatching MONDO:0016038 calcified aponeurotic fibroma skos:exactMatch Orphanet:199260 Calcifying aponeurotic fibroma semapv:UnspecifiedMatching MONDO:0016038 calcified aponeurotic fibroma skos:exactMatch SCTID:703614006 semapv:UnspecifiedMatching MONDO:0016038 calcified aponeurotic fibroma skos:exactMatch UMLS:C0553647 semapv:UnspecifiedMatching MONDO:0016039 infantile digital fibromatosis skos:exactMatch MEDGEN:232929 semapv:UnspecifiedMatching MONDO:0016039 infantile digital fibromatosis skos:exactMatch NCIT:C3456 Inclusion Body Fibromatosis semapv:UnspecifiedMatching MONDO:0016039 infantile digital fibromatosis skos:exactMatch Orphanet:199267 Infantile digital fibromatosis semapv:UnspecifiedMatching MONDO:0016039 infantile digital fibromatosis skos:exactMatch SCTID:399903008 semapv:UnspecifiedMatching MONDO:0016039 infantile digital fibromatosis skos:exactMatch UMLS:C1318562 semapv:UnspecifiedMatching MONDO:0016039 infantile digital fibromatosis skos:exactMatch icd11.foundation:246280296 Inclusion body fibromatosis semapv:UnspecifiedMatching MONDO:0016040 harlequin syndrome skos:exactMatch MEDGEN:384475 semapv:UnspecifiedMatching MONDO:0016040 harlequin syndrome skos:exactMatch Orphanet:199282 Harlequin syndrome semapv:UnspecifiedMatching MONDO:0016040 harlequin syndrome skos:exactMatch SCTID:14070001000004105 semapv:UnspecifiedMatching MONDO:0016040 harlequin syndrome skos:exactMatch UMLS:C2029348 semapv:UnspecifiedMatching MONDO:0016040 harlequin syndrome skos:exactMatch mesh:C535634 semapv:UnspecifiedMatching MONDO:0016041 congenital microgastria skos:exactMatch MEDGEN:82732 semapv:UnspecifiedMatching MONDO:0016041 congenital microgastria skos:exactMatch Orphanet:199293 Congenital microgastria semapv:UnspecifiedMatching MONDO:0016041 congenital microgastria skos:exactMatch SCTID:83714006 semapv:UnspecifiedMatching MONDO:0016041 congenital microgastria skos:exactMatch UMLS:C0266150 semapv:UnspecifiedMatching MONDO:0016041 congenital microgastria skos:exactMatch icd11.foundation:1695007532 Congenital microgastria semapv:UnspecifiedMatching MONDO:0016042 late-onset isolated ACTH deficiency skos:exactMatch MEDGEN:1651973 semapv:UnspecifiedMatching MONDO:0016042 late-onset isolated ACTH deficiency skos:exactMatch Orphanet:199299 Late-onset isolated ACTH deficiency semapv:UnspecifiedMatching MONDO:0016042 late-onset isolated ACTH deficiency skos:exactMatch UMLS:C4751433 semapv:UnspecifiedMatching MONDO:0016042 late-onset isolated ACTH deficiency skos:exactMatch icd11.foundation:1651831896 Late-onset isolated ACTH deficiency semapv:UnspecifiedMatching MONDO:0016043 isolated cleft lip skos:exactMatch MEDGEN:40327 semapv:UnspecifiedMatching MONDO:0016043 isolated cleft lip skos:exactMatch Orphanet:199302 Isolated cleft lip semapv:UnspecifiedMatching MONDO:0016043 isolated cleft lip skos:exactMatch UMLS:C0008924 semapv:UnspecifiedMatching MONDO:0016043 isolated cleft lip skos:exactMatch icd11.foundation:172183323 Cleft lip semapv:UnspecifiedMatching MONDO:0016044 cleft lip/palate skos:exactMatch ICD10CM:Q35-Q37 Cleft lip and cleft palate (Q35-Q37) semapv:UnspecifiedMatching MONDO:0016044 cleft lip/palate skos:exactMatch MEDGEN:57640 semapv:UnspecifiedMatching MONDO:0016044 cleft lip/palate skos:exactMatch Orphanet:199306 Cleft lip/palate semapv:UnspecifiedMatching MONDO:0016044 cleft lip/palate skos:exactMatch SCTID:66948001 semapv:UnspecifiedMatching MONDO:0016044 cleft lip/palate skos:exactMatch UMLS:C0158646 semapv:UnspecifiedMatching MONDO:0016045 tetragametic chimerism skos:exactMatch MEDGEN:609542 semapv:UnspecifiedMatching MONDO:0016045 tetragametic chimerism skos:exactMatch Orphanet:199310 Tetragametic chimerism syndrome semapv:UnspecifiedMatching MONDO:0016045 tetragametic chimerism skos:exactMatch UMLS:C0432480 semapv:UnspecifiedMatching MONDO:0016046 familial clubfoot with or without associated lower limb anomalies skos:exactMatch MEDGEN:1843133 semapv:UnspecifiedMatching MONDO:0016046 familial clubfoot with or without associated lower limb anomalies skos:exactMatch Orphanet:199315 Familial clubfoot with or without associated lower limb anomalies semapv:UnspecifiedMatching MONDO:0016046 familial clubfoot with or without associated lower limb anomalies skos:exactMatch UMLS:C5680522 semapv:UnspecifiedMatching MONDO:0016047 endophthalmitis skos:exactMatch DOID:4692 endophthalmitis semapv:UnspecifiedMatching MONDO:0016047 endophthalmitis skos:exactMatch MEDGEN:8633 semapv:UnspecifiedMatching MONDO:0016047 endophthalmitis skos:exactMatch NCIT:C34586 Endophthalmitis semapv:UnspecifiedMatching MONDO:0016047 endophthalmitis skos:exactMatch Orphanet:199323 Endophthalmitis semapv:UnspecifiedMatching MONDO:0016047 endophthalmitis skos:exactMatch SCTID:1847009 semapv:UnspecifiedMatching MONDO:0016047 endophthalmitis skos:exactMatch UMLS:C0014236 semapv:UnspecifiedMatching MONDO:0016047 endophthalmitis skos:exactMatch icd11.foundation:1211141166 Endophthalmitis semapv:UnspecifiedMatching MONDO:0016047 endophthalmitis skos:exactMatch mesh:D009877 semapv:UnspecifiedMatching MONDO:0016048 isolated autosomal dominant hypomagnesemia, Glaudemans type skos:exactMatch MEDGEN:930824 semapv:UnspecifiedMatching MONDO:0016048 isolated autosomal dominant hypomagnesemia, Glaudemans type skos:exactMatch Orphanet:199326 Isolated autosomal dominant hypomagnesemia, Glaudemans type semapv:UnspecifiedMatching MONDO:0016048 isolated autosomal dominant hypomagnesemia, Glaudemans type skos:exactMatch SCTID:722008003 semapv:UnspecifiedMatching MONDO:0016048 isolated autosomal dominant hypomagnesemia, Glaudemans type skos:exactMatch UMLS:C4305155 semapv:UnspecifiedMatching MONDO:0016049 congenital myopathy, Paradas type skos:exactMatch MEDGEN:1388555 semapv:UnspecifiedMatching MONDO:0016049 congenital myopathy, Paradas type skos:exactMatch Orphanet:199329 Congenital myopathy, Paradas type semapv:UnspecifiedMatching MONDO:0016049 congenital myopathy, Paradas type skos:exactMatch UMLS:C4511057 semapv:UnspecifiedMatching MONDO:0016051 cleft lip-retinopathy syndrome skos:exactMatch MEDGEN:419494 semapv:UnspecifiedMatching MONDO:0016051 cleft lip-retinopathy syndrome skos:exactMatch Orphanet:1995 Cleft lip-retinopathy syndrome semapv:UnspecifiedMatching MONDO:0016051 cleft lip-retinopathy syndrome skos:exactMatch UMLS:C2931789 semapv:UnspecifiedMatching MONDO:0016051 cleft lip-retinopathy syndrome skos:exactMatch mesh:C538272 semapv:UnspecifiedMatching MONDO:0016052 atypical autism skos:exactMatch DOID:0060042 atypical autism semapv:UnspecifiedMatching MONDO:0016052 atypical autism skos:exactMatch MEDGEN:572882 semapv:UnspecifiedMatching MONDO:0016052 atypical autism skos:exactMatch Orphanet:199627 Atypical autism semapv:UnspecifiedMatching MONDO:0016052 atypical autism skos:exactMatch SCTID:231536004 semapv:UnspecifiedMatching MONDO:0016052 atypical autism skos:exactMatch UMLS:C0338986 semapv:UnspecifiedMatching MONDO:0016052 atypical autism skos:exactMatch icd11.foundation:2136163538 Atypical autism semapv:UnspecifiedMatching MONDO:0016053 isolated cerebellar vermis hypoplasia skos:exactMatch MEDGEN:1638500 semapv:UnspecifiedMatching MONDO:0016053 isolated cerebellar vermis hypoplasia skos:exactMatch Orphanet:199630 Isolated cerebellar vermis hypoplasia semapv:UnspecifiedMatching MONDO:0016053 isolated cerebellar vermis hypoplasia skos:exactMatch SCTID:766709000 semapv:UnspecifiedMatching MONDO:0016053 isolated cerebellar vermis hypoplasia skos:exactMatch UMLS:C4707794 semapv:UnspecifiedMatching MONDO:0016054 obsolete cerebral malformation skos:exactMatch Orphanet:199633 Non-syndromic cerebral malformation semapv:UnspecifiedMatching MONDO:0016055 obsolete syndrome with corpus callosum agenesis /dysgenesis as a major feature skos:exactMatch Orphanet:199639 Syndrome with corpus callosum agenesis/dysgenesis as a major feature semapv:UnspecifiedMatching MONDO:0016056 isolated congenital microcephaly skos:exactMatch DOID:0070297 primary microcephaly semapv:UnspecifiedMatching MONDO:0016056 isolated congenital microcephaly skos:exactMatch MEDGEN:44422 semapv:UnspecifiedMatching MONDO:0016056 isolated congenital microcephaly skos:exactMatch Orphanet:199642 Isolated congenital microcephaly semapv:UnspecifiedMatching MONDO:0016056 isolated congenital microcephaly skos:exactMatch UMLS:C0025958 semapv:UnspecifiedMatching MONDO:0016057 isolated encephalocele skos:exactMatch MEDGEN:1830107 semapv:UnspecifiedMatching MONDO:0016057 isolated encephalocele skos:exactMatch Orphanet:199647 Isolated encephalocele semapv:UnspecifiedMatching MONDO:0016057 isolated encephalocele skos:exactMatch UMLS:C5680519 semapv:UnspecifiedMatching MONDO:0016058 paroxysmal dystonia skos:exactMatch MEDGEN:97951 semapv:UnspecifiedMatching MONDO:0016058 paroxysmal dystonia skos:exactMatch Orphanet:200037 Paroxysmal dystonia semapv:UnspecifiedMatching MONDO:0016058 paroxysmal dystonia skos:exactMatch SCTID:230310003 semapv:UnspecifiedMatching MONDO:0016058 paroxysmal dystonia skos:exactMatch UMLS:C0393588 semapv:UnspecifiedMatching MONDO:0016058 paroxysmal dystonia skos:exactMatch icd11.foundation:2047715743 Paroxysmal dystonia semapv:UnspecifiedMatching MONDO:0016059 cleft lip/palate-deafness-sacral lipoma syndrome skos:exactMatch MEDGEN:905203 semapv:UnspecifiedMatching MONDO:0016059 cleft lip/palate-deafness-sacral lipoma syndrome skos:exactMatch Orphanet:2003 Cleft lip/palate-deafness-sacral lipoma syndrome semapv:UnspecifiedMatching MONDO:0016059 cleft lip/palate-deafness-sacral lipoma syndrome skos:exactMatch SCTID:716007007 semapv:UnspecifiedMatching MONDO:0016059 cleft lip/palate-deafness-sacral lipoma syndrome skos:exactMatch UMLS:C4274888 semapv:UnspecifiedMatching MONDO:0016060 laryngotracheoesophageal cleft skos:exactMatch NCIT:C98622 Larnygeotracheoesophageal Cleft semapv:UnspecifiedMatching MONDO:0016060 laryngotracheoesophageal cleft skos:exactMatch Orphanet:2004 Laryngotracheoesophageal cleft semapv:UnspecifiedMatching MONDO:0016060 laryngotracheoesophageal cleft skos:exactMatch SCTID:232461002 semapv:UnspecifiedMatching MONDO:0016060 laryngotracheoesophageal cleft skos:exactMatch icd11.foundation:271795917 Laryngotracheooesophageal cleft semapv:UnspecifiedMatching MONDO:0016060 laryngotracheoesophageal cleft skos:exactMatch mesh:C537875 semapv:UnspecifiedMatching MONDO:0016061 immunodeficiency with factor H anomaly skos:exactMatch Orphanet:200421 Immunodeficiency with factor H anomaly semapv:UnspecifiedMatching MONDO:0016061 immunodeficiency with factor H anomaly skos:exactMatch icd11.foundation:946399055 Immunodeficiency with factor H anomaly semapv:UnspecifiedMatching MONDO:0016062 median cleft lip/mandibule skos:exactMatch MEDGEN:1389145 semapv:UnspecifiedMatching MONDO:0016062 median cleft lip/mandibule skos:exactMatch Orphanet:2006 Median cleft lip/mandible semapv:UnspecifiedMatching MONDO:0016062 median cleft lip/mandibule skos:exactMatch SCTID:723383005 semapv:UnspecifiedMatching MONDO:0016062 median cleft lip/mandibule skos:exactMatch UMLS:C4518460 semapv:UnspecifiedMatching MONDO:0016063 Cowden disease skos:exactMatch DOID:6457 Cowden syndrome semapv:UnspecifiedMatching MONDO:0016063 Cowden disease skos:exactMatch MEDGEN:5420 semapv:UnspecifiedMatching MONDO:0016063 Cowden disease skos:exactMatch NCIT:C3076 Cowden Syndrome semapv:UnspecifiedMatching MONDO:0016063 Cowden disease skos:exactMatch OMIMPS:158350 Cowden disease semapv:UnspecifiedMatching MONDO:0016063 Cowden disease skos:exactMatch Orphanet:201 Cowden syndrome semapv:UnspecifiedMatching MONDO:0016063 Cowden disease skos:exactMatch SCTID:58037000 semapv:UnspecifiedMatching MONDO:0016063 Cowden disease skos:exactMatch UMLS:C0018553 semapv:UnspecifiedMatching MONDO:0016063 Cowden disease skos:exactMatch mesh:D006223 semapv:UnspecifiedMatching MONDO:0016064 cleft palate skos:exactMatch DOID:674 cleft palate semapv:UnspecifiedMatching MONDO:0016064 cleft palate skos:exactMatch ICD10CM:Q35 Cleft palate semapv:UnspecifiedMatching MONDO:0016064 cleft palate skos:exactMatch ICD10WHO:Q35 Cleft palate semapv:UnspecifiedMatching MONDO:0016064 cleft palate skos:exactMatch MEDGEN:756015 semapv:UnspecifiedMatching MONDO:0016064 cleft palate skos:exactMatch NCIT:C87069 Cleft Palate semapv:UnspecifiedMatching MONDO:0016064 cleft palate skos:exactMatch Orphanet:2014 Cleft palate semapv:UnspecifiedMatching MONDO:0016064 cleft palate skos:exactMatch SCTID:63567004 semapv:UnspecifiedMatching MONDO:0016064 cleft palate skos:exactMatch UMLS:C2981150 semapv:UnspecifiedMatching MONDO:0016064 cleft palate skos:exactMatch icd11.foundation:2129534948 Cleft palate semapv:UnspecifiedMatching MONDO:0016064 cleft palate skos:exactMatch mesh:D002972 semapv:UnspecifiedMatching MONDO:0016065 cleft palate-short stature-vertebral anomalies syndrome skos:exactMatch MEDGEN:930373 semapv:UnspecifiedMatching MONDO:0016065 cleft palate-short stature-vertebral anomalies syndrome skos:exactMatch Orphanet:2015 Cleft palate-short stature-vertebral anomalies syndrome semapv:UnspecifiedMatching MONDO:0016065 cleft palate-short stature-vertebral anomalies syndrome skos:exactMatch SCTID:719466009 semapv:UnspecifiedMatching MONDO:0016065 cleft palate-short stature-vertebral anomalies syndrome skos:exactMatch UMLS:C4304704 semapv:UnspecifiedMatching MONDO:0016066 sternal cleft skos:exactMatch MEDGEN:419096 semapv:UnspecifiedMatching MONDO:0016066 sternal cleft skos:exactMatch Orphanet:2017 Sternal cleft semapv:UnspecifiedMatching MONDO:0016066 sternal cleft skos:exactMatch SCTID:54008006 semapv:UnspecifiedMatching MONDO:0016066 sternal cleft skos:exactMatch UMLS:C2931507 semapv:UnspecifiedMatching MONDO:0016066 sternal cleft skos:exactMatch icd11.foundation:1308914573 Sternal cleft semapv:UnspecifiedMatching MONDO:0016066 sternal cleft skos:exactMatch mesh:C537489 semapv:UnspecifiedMatching MONDO:0016067 Crandall syndrome skos:exactMatch MEDGEN:96597 semapv:UnspecifiedMatching MONDO:0016067 Crandall syndrome skos:exactMatch SCTID:278098005 semapv:UnspecifiedMatching MONDO:0016067 Crandall syndrome skos:exactMatch UMLS:C0432348 semapv:UnspecifiedMatching MONDO:0016068 fibrochondrogenesis skos:exactMatch DOID:0060465 fibrochondrogenesis semapv:UnspecifiedMatching MONDO:0016068 fibrochondrogenesis skos:exactMatch MEDGEN:82700 semapv:UnspecifiedMatching MONDO:0016068 fibrochondrogenesis skos:exactMatch OMIMPS:228520 Fibrochondrogenesis semapv:UnspecifiedMatching MONDO:0016068 fibrochondrogenesis skos:exactMatch Orphanet:2021 Fibrochondrogenesis semapv:UnspecifiedMatching MONDO:0016068 fibrochondrogenesis skos:exactMatch SCTID:17144009 semapv:UnspecifiedMatching MONDO:0016068 fibrochondrogenesis skos:exactMatch UMLS:C0265282 semapv:UnspecifiedMatching MONDO:0016068 fibrochondrogenesis skos:exactMatch icd11.foundation:1412541453 Fibrochondrogenesis semapv:UnspecifiedMatching MONDO:0016068 fibrochondrogenesis skos:exactMatch mesh:C562524 semapv:UnspecifiedMatching MONDO:0016070 hereditary gingival fibromatosis skos:exactMatch DOID:0060466 gingival fibromatosis semapv:UnspecifiedMatching MONDO:0016070 hereditary gingival fibromatosis skos:exactMatch MEDGEN:140775 semapv:UnspecifiedMatching MONDO:0016070 hereditary gingival fibromatosis skos:exactMatch OMIMPS:135300 Gingival fibromatosis semapv:UnspecifiedMatching MONDO:0016070 hereditary gingival fibromatosis skos:exactMatch Orphanet:2024 Hereditary gingival fibromatosis semapv:UnspecifiedMatching MONDO:0016070 hereditary gingival fibromatosis skos:exactMatch SCTID:109620006 semapv:UnspecifiedMatching MONDO:0016070 hereditary gingival fibromatosis skos:exactMatch UMLS:C0399440 semapv:UnspecifiedMatching MONDO:0016070 hereditary gingival fibromatosis skos:exactMatch icd11.foundation:1911315646 Hereditary gingival fibromatosis semapv:UnspecifiedMatching MONDO:0016071 juvenile hyaline fibromatosis skos:exactMatch MEDGEN:411197 semapv:UnspecifiedMatching MONDO:0016071 juvenile hyaline fibromatosis skos:exactMatch NCIT:C98297 Juvenile Hyaline Fibromatosis semapv:UnspecifiedMatching MONDO:0016071 juvenile hyaline fibromatosis skos:exactMatch Orphanet:2028 Juvenile hyaline fibromatosis semapv:UnspecifiedMatching MONDO:0016071 juvenile hyaline fibromatosis skos:exactMatch SCTID:238861002 semapv:UnspecifiedMatching MONDO:0016071 juvenile hyaline fibromatosis skos:exactMatch UMLS:C2745948 semapv:UnspecifiedMatching MONDO:0016071 juvenile hyaline fibromatosis skos:exactMatch icd11.foundation:1890146024 Juvenile hyaline fibromatosis semapv:UnspecifiedMatching MONDO:0016072 obsolete anomaly of puberty or/and menstrual cycle of genetic origin skos:exactMatch Orphanet:202940 Anomaly of puberty or/and menstrual cycle of genetic origin semapv:UnspecifiedMatching MONDO:0016073 syndromic microphthalmia skos:exactMatch DOID:0080636 syndromic microphthalmia semapv:UnspecifiedMatching MONDO:0016073 syndromic microphthalmia skos:exactMatch MEDGEN:1826052 semapv:UnspecifiedMatching MONDO:0016073 syndromic microphthalmia skos:exactMatch OMIMPS:309800 Microphthalmia, syndromic semapv:UnspecifiedMatching MONDO:0016073 syndromic microphthalmia skos:exactMatch Orphanet:202948 Syndromic microphthalmia-anophthalmia-coloboma semapv:UnspecifiedMatching MONDO:0016073 syndromic microphthalmia skos:exactMatch UMLS:C5679782 semapv:UnspecifiedMatching MONDO:0016075 filariasis skos:exactMatch DOID:1080 filariasis semapv:UnspecifiedMatching MONDO:0016075 filariasis skos:exactMatch ICD10CM:B74 Filariasis semapv:UnspecifiedMatching MONDO:0016075 filariasis skos:exactMatch ICD10WHO:B74 Filariasis semapv:UnspecifiedMatching MONDO:0016075 filariasis skos:exactMatch MEDGEN:4706 semapv:UnspecifiedMatching MONDO:0016075 filariasis skos:exactMatch NCIT:C34611 Filariasis semapv:UnspecifiedMatching MONDO:0016075 filariasis skos:exactMatch Orphanet:2034 Filariasis semapv:UnspecifiedMatching MONDO:0016075 filariasis skos:exactMatch SCTID:105706003 semapv:UnspecifiedMatching MONDO:0016075 filariasis skos:exactMatch UMLS:C0016085 semapv:UnspecifiedMatching MONDO:0016075 filariasis skos:exactMatch icd11.foundation:1975325075 Filariasis semapv:UnspecifiedMatching MONDO:0016075 filariasis skos:exactMatch mesh:D005368 semapv:UnspecifiedMatching MONDO:0016077 congenital aortopulmonary window skos:exactMatch MEDGEN:419119 semapv:UnspecifiedMatching MONDO:0016077 congenital aortopulmonary window skos:exactMatch Orphanet:2037 Congenital aortopulmonary window semapv:UnspecifiedMatching MONDO:0016077 congenital aortopulmonary window skos:exactMatch UMLS:C2931610 semapv:UnspecifiedMatching MONDO:0016077 congenital aortopulmonary window skos:exactMatch icd11.foundation:1988278118 Congenital aortopulmonary window semapv:UnspecifiedMatching MONDO:0016077 congenital aortopulmonary window skos:exactMatch mesh:C537782 semapv:UnspecifiedMatching MONDO:0016078 congenital systemic arteriovenous fistula skos:exactMatch MEDGEN:1679454 semapv:UnspecifiedMatching MONDO:0016078 congenital systemic arteriovenous fistula skos:exactMatch Orphanet:2039 Congenital systemic arteriovenous fistula semapv:UnspecifiedMatching MONDO:0016078 congenital systemic arteriovenous fistula skos:exactMatch UMLS:C5191839 semapv:UnspecifiedMatching MONDO:0016079 sporadic Creutzfeldt-Jakob disease skos:exactMatch MEDGEN:377682 semapv:UnspecifiedMatching MONDO:0016079 sporadic Creutzfeldt-Jakob disease skos:exactMatch Orphanet:204 Sporadic Creutzfeldt-Jakob disease semapv:UnspecifiedMatching MONDO:0016079 sporadic Creutzfeldt-Jakob disease skos:exactMatch SCTID:713060000 semapv:UnspecifiedMatching MONDO:0016079 sporadic Creutzfeldt-Jakob disease skos:exactMatch UMLS:C1852467 semapv:UnspecifiedMatching MONDO:0016079 sporadic Creutzfeldt-Jakob disease skos:exactMatch icd11.foundation:1553463690 Sporadic Creutzfeldt-Jakob Disease semapv:UnspecifiedMatching MONDO:0016080 congenital bronchobiliary fistula skos:exactMatch MEDGEN:930385 semapv:UnspecifiedMatching MONDO:0016080 congenital bronchobiliary fistula skos:exactMatch Orphanet:2040 Congenital respiratory-biliary fistula semapv:UnspecifiedMatching MONDO:0016080 congenital bronchobiliary fistula skos:exactMatch SCTID:719452004 semapv:UnspecifiedMatching MONDO:0016080 congenital bronchobiliary fistula skos:exactMatch UMLS:C4304716 semapv:UnspecifiedMatching MONDO:0016080 congenital bronchobiliary fistula skos:exactMatch icd11.foundation:420429663 Congenital bronchobiliary fistula semapv:UnspecifiedMatching MONDO:0016081 coronary arterial fistulas skos:exactMatch MEDGEN:488822 semapv:UnspecifiedMatching MONDO:0016081 coronary arterial fistulas skos:exactMatch Orphanet:2041 Coronary arterial fistula semapv:UnspecifiedMatching MONDO:0016081 coronary arterial fistulas skos:exactMatch UMLS:C0265898 semapv:UnspecifiedMatching MONDO:0016082 obsolete tracheo-esophageal fistula-hypospadias syndrome skos:exactMatch Orphanet:2042 OBSOLETE: Tracheo-esophageal fistula-hypospadias syndrome semapv:UnspecifiedMatching MONDO:0016083 FLOTCH syndrome skos:exactMatch MEDGEN:419074 semapv:UnspecifiedMatching MONDO:0016083 FLOTCH syndrome skos:exactMatch Orphanet:2045 FLOTCH syndrome semapv:UnspecifiedMatching MONDO:0016083 FLOTCH syndrome skos:exactMatch UMLS:C2931411 semapv:UnspecifiedMatching MONDO:0016083 FLOTCH syndrome skos:exactMatch mesh:C537065 semapv:UnspecifiedMatching MONDO:0016085 Cole-Carpenter syndrome skos:exactMatch DOID:0060438 Cole-Carpenter syndrome semapv:UnspecifiedMatching MONDO:0016085 Cole-Carpenter syndrome skos:exactMatch MEDGEN:350614 semapv:UnspecifiedMatching MONDO:0016085 Cole-Carpenter syndrome skos:exactMatch NCIT:C130985 Cole-Carpenter Syndrome semapv:UnspecifiedMatching MONDO:0016085 Cole-Carpenter syndrome skos:exactMatch OMIMPS:112240 Cole-Carpenter syndrome semapv:UnspecifiedMatching MONDO:0016085 Cole-Carpenter syndrome skos:exactMatch Orphanet:2050 Cole-Carpenter syndrome semapv:UnspecifiedMatching MONDO:0016085 Cole-Carpenter syndrome skos:exactMatch UMLS:C1862178 semapv:UnspecifiedMatching MONDO:0016085 Cole-Carpenter syndrome skos:exactMatch icd11.foundation:1458793358 Cole-Carpenter syndrome semapv:UnspecifiedMatching MONDO:0016085 Cole-Carpenter syndrome skos:exactMatch mesh:C535963 semapv:UnspecifiedMatching MONDO:0016086 osteochondritis of tarsal/metatarsal bone skos:exactMatch DOID:11760 Kohler's disease semapv:UnspecifiedMatching MONDO:0016086 osteochondritis of tarsal/metatarsal bone skos:exactMatch MEDGEN:510539 semapv:UnspecifiedMatching MONDO:0016086 osteochondritis of tarsal/metatarsal bone skos:exactMatch Orphanet:563991 Osteochondrosis of the tarsal bone semapv:UnspecifiedMatching MONDO:0016086 osteochondritis of tarsal/metatarsal bone skos:exactMatch SCTID:203392007 semapv:UnspecifiedMatching MONDO:0016086 osteochondritis of tarsal/metatarsal bone skos:exactMatch UMLS:C0158444 semapv:UnspecifiedMatching MONDO:0016087 progressive non-infectious anterior vertebral fusion skos:exactMatch MEDGEN:930508 semapv:UnspecifiedMatching MONDO:0016087 progressive non-infectious anterior vertebral fusion skos:exactMatch Orphanet:2062 Progressive non-infectious anterior vertebral fusion semapv:UnspecifiedMatching MONDO:0016087 progressive non-infectious anterior vertebral fusion skos:exactMatch SCTID:719268008 semapv:UnspecifiedMatching MONDO:0016087 progressive non-infectious anterior vertebral fusion skos:exactMatch UMLS:C4304839 semapv:UnspecifiedMatching MONDO:0016088 hypoxanthine-guanine phosphoribosyltransferase deficiency skos:exactMatch MEDGEN:1852368 semapv:UnspecifiedMatching MONDO:0016088 hypoxanthine-guanine phosphoribosyltransferase deficiency skos:exactMatch Orphanet:206428 Hypoxanthine-guanine phosphoribosyltransferase deficiency semapv:UnspecifiedMatching MONDO:0016088 hypoxanthine-guanine phosphoribosyltransferase deficiency skos:exactMatch SCTID:124275001 semapv:UnspecifiedMatching MONDO:0016088 hypoxanthine-guanine phosphoribosyltransferase deficiency skos:exactMatch UMLS:C5848153 semapv:UnspecifiedMatching MONDO:0016088 hypoxanthine-guanine phosphoribosyltransferase deficiency skos:exactMatch icd11.foundation:1293396861 Hypoxanthine-guanine phosphoribosyltransferase deficiency semapv:UnspecifiedMatching MONDO:0016089 infantile Krabbe disease skos:exactMatch MEDGEN:148270 semapv:UnspecifiedMatching MONDO:0016089 infantile Krabbe disease skos:exactMatch Orphanet:206436 Infantile Krabbe disease semapv:UnspecifiedMatching MONDO:0016089 infantile Krabbe disease skos:exactMatch SCTID:238030005 semapv:UnspecifiedMatching MONDO:0016089 infantile Krabbe disease skos:exactMatch UMLS:C0751273 semapv:UnspecifiedMatching MONDO:0016089 infantile Krabbe disease skos:exactMatch icd11.foundation:999546344 Infantile Krabbe disease semapv:UnspecifiedMatching MONDO:0016090 late-infantile/juvenile Krabbe disease skos:exactMatch Orphanet:206443 Late-infantile/juvenile Krabbe disease semapv:UnspecifiedMatching MONDO:0016090 late-infantile/juvenile Krabbe disease skos:exactMatch SCTID:41142009 semapv:UnspecifiedMatching MONDO:0016091 adult Krabbe disease skos:exactMatch MEDGEN:120623 semapv:UnspecifiedMatching MONDO:0016091 adult Krabbe disease skos:exactMatch Orphanet:206448 Adult Krabbe disease semapv:UnspecifiedMatching MONDO:0016091 adult Krabbe disease skos:exactMatch UMLS:C0268252 semapv:UnspecifiedMatching MONDO:0016091 adult Krabbe disease skos:exactMatch icd11.foundation:699668826 Adult Krabbe disease semapv:UnspecifiedMatching MONDO:0016092 serous or mucinous cystadenoma of childhood skos:exactMatch MEDGEN:1803886 semapv:UnspecifiedMatching MONDO:0016092 serous or mucinous cystadenoma of childhood skos:exactMatch Orphanet:206470 Cystadenoma of childhood semapv:UnspecifiedMatching MONDO:0016092 serous or mucinous cystadenoma of childhood skos:exactMatch UMLS:C5679785 semapv:UnspecifiedMatching MONDO:0016093 borderline epithelial tumor of ovary skos:exactMatch EFO:1000140 semapv:UnspecifiedMatching MONDO:0016093 borderline epithelial tumor of ovary skos:exactMatch MEDGEN:777110 semapv:UnspecifiedMatching MONDO:0016093 borderline epithelial tumor of ovary skos:exactMatch NCIT:C4783 Borderline Ovarian Epithelial Tumor semapv:UnspecifiedMatching MONDO:0016093 borderline epithelial tumor of ovary skos:exactMatch SCTID:764791008 semapv:UnspecifiedMatching MONDO:0016093 borderline epithelial tumor of ovary skos:exactMatch UMLS:C3665489 semapv:UnspecifiedMatching MONDO:0016094 vaginal germ cell malignant tumor skos:exactMatch MEDGEN:1670250 semapv:UnspecifiedMatching MONDO:0016094 vaginal germ cell malignant tumor skos:exactMatch Orphanet:206489 Malignant germ cell tumor of the vagina semapv:UnspecifiedMatching MONDO:0016094 vaginal germ cell malignant tumor skos:exactMatch UMLS:C4749402 semapv:UnspecifiedMatching MONDO:0016095 vaginal rhabdomyosarcoma skos:exactMatch MEDGEN:925567 semapv:UnspecifiedMatching MONDO:0016095 vaginal rhabdomyosarcoma skos:exactMatch NCIT:C128080 Vaginal Rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0016095 vaginal rhabdomyosarcoma skos:exactMatch Orphanet:206492 Vulvovaginal rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0016095 vaginal rhabdomyosarcoma skos:exactMatch SCTID:766759009 semapv:UnspecifiedMatching MONDO:0016095 vaginal rhabdomyosarcoma skos:exactMatch UMLS:C4288035 semapv:UnspecifiedMatching MONDO:0016096 malignant non-dysgerminomatous germ cell tumor of ovary skos:exactMatch MEDGEN:1826164 semapv:UnspecifiedMatching MONDO:0016096 malignant non-dysgerminomatous germ cell tumor of ovary skos:exactMatch NCIT:C102870 Ovarian Non-Dysgerminomatous Germ Cell Tumor semapv:UnspecifiedMatching MONDO:0016096 malignant non-dysgerminomatous germ cell tumor of ovary skos:exactMatch Orphanet:206538 Malignant non-dysgerminomatous germ cell tumor of ovary semapv:UnspecifiedMatching MONDO:0016096 malignant non-dysgerminomatous germ cell tumor of ovary skos:exactMatch UMLS:C5679783 semapv:UnspecifiedMatching MONDO:0016097 symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers skos:exactMatch MEDGEN:1631985 semapv:UnspecifiedMatching MONDO:0016097 symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers skos:exactMatch Orphanet:206546 Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers semapv:UnspecifiedMatching MONDO:0016097 symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers skos:exactMatch SCTID:765197008 semapv:UnspecifiedMatching MONDO:0016097 symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers skos:exactMatch UMLS:C4707359 semapv:UnspecifiedMatching MONDO:0016098 immune-mediated necrotizing myopathy skos:exactMatch MEDGEN:899492 semapv:UnspecifiedMatching MONDO:0016098 immune-mediated necrotizing myopathy skos:exactMatch Orphanet:206569 Immune-mediated necrotizing myopathy semapv:UnspecifiedMatching MONDO:0016098 immune-mediated necrotizing myopathy skos:exactMatch SCTID:715863001 semapv:UnspecifiedMatching MONDO:0016098 immune-mediated necrotizing myopathy skos:exactMatch UMLS:C3267047 semapv:UnspecifiedMatching MONDO:0016099 overlap myositis skos:exactMatch MEDGEN:1814440 semapv:UnspecifiedMatching MONDO:0016099 overlap myositis skos:exactMatch Orphanet:206572 Overlap myositis semapv:UnspecifiedMatching MONDO:0016099 overlap myositis skos:exactMatch UMLS:C5679784 semapv:UnspecifiedMatching MONDO:0016100 rippling muscle disease with myasthenia gravis skos:exactMatch MEDGEN:1657345 semapv:UnspecifiedMatching MONDO:0016100 rippling muscle disease with myasthenia gravis skos:exactMatch Orphanet:206575 Rippling muscle disease with myasthenia gravis semapv:UnspecifiedMatching MONDO:0016100 rippling muscle disease with myasthenia gravis skos:exactMatch UMLS:C4749335 semapv:UnspecifiedMatching MONDO:0016100 rippling muscle disease with myasthenia gravis skos:exactMatch icd11.foundation:327350590 Rippling muscle disease with myasthenia gravis semapv:UnspecifiedMatching MONDO:0016101 neurolymphomatosis skos:exactMatch MEDGEN:1642312 semapv:UnspecifiedMatching MONDO:0016101 neurolymphomatosis skos:exactMatch Orphanet:206586 Neurolymphomatosis semapv:UnspecifiedMatching MONDO:0016101 neurolymphomatosis skos:exactMatch SCTID:766752000 semapv:UnspecifiedMatching MONDO:0016101 neurolymphomatosis skos:exactMatch UMLS:C4553088 semapv:UnspecifiedMatching MONDO:0016101 neurolymphomatosis skos:exactMatch icd11.foundation:177999927 Neurolymphomatosis semapv:UnspecifiedMatching MONDO:0016101 neurolymphomatosis skos:exactMatch mesh:D000077162 semapv:UnspecifiedMatching MONDO:0016101 neurolymphomatosis skos:exactMatch mesh:D008380 semapv:UnspecifiedMatching MONDO:0016102 subacute inflammatory demyelinating polyneuropathy skos:exactMatch MEDGEN:629329 semapv:UnspecifiedMatching MONDO:0016102 subacute inflammatory demyelinating polyneuropathy skos:exactMatch Orphanet:206594 Subacute inflammatory demyelinating polyneuropathy semapv:UnspecifiedMatching MONDO:0016102 subacute inflammatory demyelinating polyneuropathy skos:exactMatch SCTID:277189006 semapv:UnspecifiedMatching MONDO:0016102 subacute inflammatory demyelinating polyneuropathy skos:exactMatch UMLS:C0456517 semapv:UnspecifiedMatching MONDO:0016102 subacute inflammatory demyelinating polyneuropathy skos:exactMatch icd11.foundation:1692167541 Subacute inflammatory demyelinating polyneuropathy semapv:UnspecifiedMatching MONDO:0016103 isolated asymptomatic elevation of creatine phosphokinase skos:exactMatch DOID:0111338 isolated elevated serum creatine phosphokinase levels semapv:UnspecifiedMatching MONDO:0016103 isolated asymptomatic elevation of creatine phosphokinase skos:exactMatch MEDGEN:1668524 semapv:UnspecifiedMatching MONDO:0016103 isolated asymptomatic elevation of creatine phosphokinase skos:exactMatch NCIT:C148327 HyperCKmia semapv:UnspecifiedMatching MONDO:0016103 isolated asymptomatic elevation of creatine phosphokinase skos:exactMatch Orphanet:206599 Isolated asymptomatic elevation of creatine phosphokinase semapv:UnspecifiedMatching MONDO:0016103 isolated asymptomatic elevation of creatine phosphokinase skos:exactMatch UMLS:C4751434 semapv:UnspecifiedMatching MONDO:0016104 obsolete infectious disease with peripheral neuropathy skos:exactMatch NCIT:C27589 Peripheral Nervous System Infectious Disorder semapv:UnspecifiedMatching MONDO:0016104 obsolete infectious disease with peripheral neuropathy skos:exactMatch Orphanet:206613 Infectious disease with peripheral neuropathy semapv:UnspecifiedMatching MONDO:0016105 acquired skeletal muscle disease skos:exactMatch MEDGEN:1842576 semapv:UnspecifiedMatching MONDO:0016105 acquired skeletal muscle disease skos:exactMatch Orphanet:206638 Acquired skeletal muscle disease semapv:UnspecifiedMatching MONDO:0016105 acquired skeletal muscle disease skos:exactMatch UMLS:C5680799 semapv:UnspecifiedMatching MONDO:0016106 progressive muscular dystrophy skos:exactMatch MEDGEN:1633060 semapv:UnspecifiedMatching MONDO:0016106 progressive muscular dystrophy skos:exactMatch Orphanet:206644 Progressive muscular dystrophy semapv:UnspecifiedMatching MONDO:0016106 progressive muscular dystrophy skos:exactMatch UMLS:C4551827 semapv:UnspecifiedMatching MONDO:0016107 myotonic dystrophy skos:exactMatch DOID:450 myotonic disease semapv:UnspecifiedMatching MONDO:0016107 myotonic dystrophy skos:exactMatch ICD10CM:G71.11 Myotonic muscular dystrophy semapv:UnspecifiedMatching MONDO:0016107 myotonic dystrophy skos:exactMatch MEDGEN:10239 semapv:UnspecifiedMatching MONDO:0016107 myotonic dystrophy skos:exactMatch NCIT:C84914 Myotonic Dystrophy semapv:UnspecifiedMatching MONDO:0016107 myotonic dystrophy skos:exactMatch OMIMPS:160900 Myotonic dystrophy semapv:UnspecifiedMatching MONDO:0016107 myotonic dystrophy skos:exactMatch Orphanet:206647 Myotonic dystrophy semapv:UnspecifiedMatching MONDO:0016107 myotonic dystrophy skos:exactMatch SCTID:240104008 semapv:UnspecifiedMatching MONDO:0016107 myotonic dystrophy skos:exactMatch UMLS:C0027126 semapv:UnspecifiedMatching MONDO:0016107 myotonic dystrophy skos:exactMatch icd11.foundation:192087511 Myotonic dystrophy semapv:UnspecifiedMatching MONDO:0016107 myotonic dystrophy skos:exactMatch mesh:D009223 semapv:UnspecifiedMatching MONDO:0016108 autosomal dominant distal myopathy skos:exactMatch MEDGEN:1826097 semapv:UnspecifiedMatching MONDO:0016108 autosomal dominant distal myopathy skos:exactMatch Orphanet:206650 Autosomal dominant distal myopathy semapv:UnspecifiedMatching MONDO:0016108 autosomal dominant distal myopathy skos:exactMatch UMLS:C5680803 semapv:UnspecifiedMatching MONDO:0016109 obsolete autosomal recessive distal myopathy skos:exactMatch Orphanet:206653 Autosomal recessive distal myopathy semapv:UnspecifiedMatching MONDO:0016110 obsolete non-dystrophic myopathy skos:exactMatch NCIT:C122787 Non-Dystrophic Myotonia semapv:UnspecifiedMatching MONDO:0016110 obsolete non-dystrophic myopathy skos:exactMatch Orphanet:206656 Non-dystrophic myopathy semapv:UnspecifiedMatching MONDO:0016110 obsolete non-dystrophic myopathy skos:exactMatch SCTID:424795008 semapv:UnspecifiedMatching MONDO:0016111 obsolete non-dystrophic myopathy with collagen 6 anomaly skos:exactMatch Orphanet:206659 OBSOLETE: Non-dystrophic myopathy with collagen 6 anomaly semapv:UnspecifiedMatching MONDO:0016112 hereditary inclusion-body myopathy skos:exactMatch MEDGEN:1843174 semapv:UnspecifiedMatching MONDO:0016112 hereditary inclusion-body myopathy skos:exactMatch Orphanet:206662 Inclusion myopathy semapv:UnspecifiedMatching MONDO:0016112 hereditary inclusion-body myopathy skos:exactMatch UMLS:C5680794 semapv:UnspecifiedMatching MONDO:0016113 bulbospinal muscular atrophy skos:exactMatch MEDGEN:95977 semapv:UnspecifiedMatching MONDO:0016113 bulbospinal muscular atrophy skos:exactMatch Orphanet:206701 Bulbospinal muscular atrophy semapv:UnspecifiedMatching MONDO:0016113 bulbospinal muscular atrophy skos:exactMatch SCTID:230253001 semapv:UnspecifiedMatching MONDO:0016113 bulbospinal muscular atrophy skos:exactMatch UMLS:C0393547 semapv:UnspecifiedMatching MONDO:0016113 bulbospinal muscular atrophy skos:exactMatch icd11.foundation:1604214898 Bulbospinal muscular atrophy semapv:UnspecifiedMatching MONDO:0016114 obsolete bulbospinal muscular atrophy of childhood skos:exactMatch Orphanet:206704 Bulbospinal muscular atrophy of childhood semapv:UnspecifiedMatching MONDO:0016115 obsolete bulbospinal muscular atrophy of adulthood skos:exactMatch Orphanet:206707 Bulbospinal muscular atrophy of adult semapv:UnspecifiedMatching MONDO:0016116 obsolete generalized bulbospinal muscular atrophy skos:exactMatch Orphanet:206710 Generalized bulbospinal muscular atrophy semapv:UnspecifiedMatching MONDO:0016117 obsolete muscular lipidosis skos:exactMatch Orphanet:206953 Muscular lipidosis semapv:UnspecifiedMatching MONDO:0016118 obsolete muscular glycogenosis skos:exactMatch Orphanet:206959 Muscular glycogenosis semapv:UnspecifiedMatching MONDO:0016120 myotonic syndrome skos:exactMatch MEDGEN:107510 semapv:UnspecifiedMatching MONDO:0016120 myotonic syndrome skos:exactMatch Orphanet:206970 Myotonic syndrome semapv:UnspecifiedMatching MONDO:0016120 myotonic syndrome skos:exactMatch UMLS:C0553604 semapv:UnspecifiedMatching MONDO:0016120 myotonic syndrome skos:exactMatch mesh:D020967 semapv:UnspecifiedMatching MONDO:0016121 obsolete congenital myotonia skos:exactMatch Orphanet:206973 Congenital myotonia semapv:UnspecifiedMatching MONDO:0016121 obsolete congenital myotonia skos:exactMatch icd11.foundation:1916703439 Myotonia congenita semapv:UnspecifiedMatching MONDO:0016122 periodic paralysis skos:exactMatch ICD10CM:G72.3 Periodic paralysis semapv:UnspecifiedMatching MONDO:0016122 periodic paralysis skos:exactMatch MEDGEN:488958 semapv:UnspecifiedMatching MONDO:0016122 periodic paralysis skos:exactMatch Orphanet:206976 Periodic paralysis semapv:UnspecifiedMatching MONDO:0016122 periodic paralysis skos:exactMatch UMLS:C1279412 semapv:UnspecifiedMatching MONDO:0016122 periodic paralysis skos:exactMatch icd11.foundation:577112387 Periodic paralysis semapv:UnspecifiedMatching MONDO:0016123 obsolete muscular tumor skos:exactMatch Orphanet:206982 Muscular tumor semapv:UnspecifiedMatching MONDO:0016124 obsolete drug and/or toxic myopathy skos:exactMatch Orphanet:206985 OBSOLETE: Drug and/or toxic myopathy semapv:UnspecifiedMatching MONDO:0016125 obsolete infectious, fungal or parasitic myopathy skos:exactMatch Orphanet:206988 Infectious, fungal or parasitic myopathy semapv:UnspecifiedMatching MONDO:0016126 viral myositis skos:exactMatch MEDGEN:508472 semapv:UnspecifiedMatching MONDO:0016126 viral myositis skos:exactMatch Orphanet:206991 Viral myositis semapv:UnspecifiedMatching MONDO:0016126 viral myositis skos:exactMatch SCTID:240105009 semapv:UnspecifiedMatching MONDO:0016126 viral myositis skos:exactMatch UMLS:C0150005 semapv:UnspecifiedMatching MONDO:0016126 viral myositis skos:exactMatch icd11.foundation:864399177 Viral myositis semapv:UnspecifiedMatching MONDO:0016127 bacterial myositis skos:exactMatch MEDGEN:538237 semapv:UnspecifiedMatching MONDO:0016127 bacterial myositis skos:exactMatch Orphanet:206994 Bacterial myositis semapv:UnspecifiedMatching MONDO:0016127 bacterial myositis skos:exactMatch SCTID:30330001 semapv:UnspecifiedMatching MONDO:0016127 bacterial myositis skos:exactMatch UMLS:C0263979 semapv:UnspecifiedMatching MONDO:0016127 bacterial myositis skos:exactMatch icd11.foundation:1277815767 Bacterial myositis semapv:UnspecifiedMatching MONDO:0016128 parasitic myositis skos:exactMatch MEDGEN:538249 semapv:UnspecifiedMatching MONDO:0016128 parasitic myositis skos:exactMatch Orphanet:206997 Parasitic myositis semapv:UnspecifiedMatching MONDO:0016128 parasitic myositis skos:exactMatch SCTID:60970005 semapv:UnspecifiedMatching MONDO:0016128 parasitic myositis skos:exactMatch UMLS:C0263997 semapv:UnspecifiedMatching MONDO:0016128 parasitic myositis skos:exactMatch icd11.foundation:110646208 Parasitic myositis semapv:UnspecifiedMatching MONDO:0016129 eosinophilic gastroenteritis skos:exactMatch DOID:4031 eosinophilic gastroenteritis semapv:UnspecifiedMatching MONDO:0016129 eosinophilic gastroenteritis skos:exactMatch ICD10CM:K52.81 Eosinophilic gastritis or gastroenteritis semapv:UnspecifiedMatching MONDO:0016129 eosinophilic gastroenteritis skos:exactMatch MEDGEN:220382 semapv:UnspecifiedMatching MONDO:0016129 eosinophilic gastroenteritis skos:exactMatch NCIT:C35330 Eosinophilic Gastroenteritis semapv:UnspecifiedMatching MONDO:0016129 eosinophilic gastroenteritis skos:exactMatch Orphanet:2070 Eosinophilic gastroenteritis semapv:UnspecifiedMatching MONDO:0016129 eosinophilic gastroenteritis skos:exactMatch SCTID:359804008 semapv:UnspecifiedMatching MONDO:0016129 eosinophilic gastroenteritis skos:exactMatch UMLS:C1262481 semapv:UnspecifiedMatching MONDO:0016130 fungal myositis skos:exactMatch MEDGEN:592951 semapv:UnspecifiedMatching MONDO:0016130 fungal myositis skos:exactMatch Orphanet:207000 Fungal myositis semapv:UnspecifiedMatching MONDO:0016130 fungal myositis skos:exactMatch SCTID:240111007 semapv:UnspecifiedMatching MONDO:0016130 fungal myositis skos:exactMatch UMLS:C0410251 semapv:UnspecifiedMatching MONDO:0016130 fungal myositis skos:exactMatch icd11.foundation:1054267564 Fungal myositis semapv:UnspecifiedMatching MONDO:0016131 obsolete spinal muscular atrophy associated with central nervous system anomaly skos:exactMatch Orphanet:207012 Spinal muscular atrophy associated with central nervous system anomaly semapv:UnspecifiedMatching MONDO:0016132 obsolete rare hereditary disease with peripheral neuropathy skos:exactMatch Orphanet:207015 Rare hereditary disease with peripheral neuropathy semapv:UnspecifiedMatching MONDO:0016133 obsolete rare hereditary metabolic disease with peripheral neuropathy skos:exactMatch Orphanet:207018 Rare hereditary metabolic disease with peripheral neuropathy semapv:UnspecifiedMatching MONDO:0016134 obsolete rare hereditary systemic disease with peripheral neuropathy skos:exactMatch Orphanet:207021 Rare hereditary systemic disease with peripheral neuropathy semapv:UnspecifiedMatching MONDO:0016135 obsolete rare hereditary neurologic disease with peripheral neuropathy skos:exactMatch Orphanet:207025 Rare hereditary neurologic disease with peripheral neuropathy semapv:UnspecifiedMatching MONDO:0016136 obsolete cerebellar ataxia with peripheral neuropathy skos:exactMatch Orphanet:207028 Cerebellar ataxia with peripheral neuropathy semapv:UnspecifiedMatching MONDO:0016137 obsolete acute and subacute inflammatory demyelinating polyneuropathy skos:exactMatch Orphanet:207038 Acute and subacute inflammatory demyelinating polyneuropathy semapv:UnspecifiedMatching MONDO:0016138 obsolete malignant lymphoma with peripheral neuropathy skos:exactMatch Orphanet:207046 Malignant lymphoma with peripheral neuropathy semapv:UnspecifiedMatching MONDO:0016139 qualitative or quantitative protein defects in neuromuscular diseases skos:exactMatch MEDGEN:1842598 semapv:UnspecifiedMatching MONDO:0016139 qualitative or quantitative protein defects in neuromuscular diseases skos:exactMatch Orphanet:207049 Qualitative or quantitative protein defects in neuromuscular diseases semapv:UnspecifiedMatching MONDO:0016139 qualitative or quantitative protein defects in neuromuscular diseases skos:exactMatch UMLS:C5680807 semapv:UnspecifiedMatching MONDO:0016140 sarcoglycanopathy skos:exactMatch MEDGEN:424705 semapv:UnspecifiedMatching MONDO:0016140 sarcoglycanopathy skos:exactMatch Orphanet:207052 Qualitative or quantitative defects of sarcoglycan semapv:UnspecifiedMatching MONDO:0016140 sarcoglycanopathy skos:exactMatch UMLS:C2936331 semapv:UnspecifiedMatching MONDO:0016140 sarcoglycanopathy skos:exactMatch mesh:D058088 semapv:UnspecifiedMatching MONDO:0016141 qualitative or quantitative defects of alpha-sarcoglycan skos:exactMatch MEDGEN:1842296 semapv:UnspecifiedMatching MONDO:0016141 qualitative or quantitative defects of alpha-sarcoglycan skos:exactMatch Orphanet:207060 Qualitative or quantitative defects of alpha-sarcoglycan semapv:UnspecifiedMatching MONDO:0016141 qualitative or quantitative defects of alpha-sarcoglycan skos:exactMatch UMLS:C5680808 semapv:UnspecifiedMatching MONDO:0016142 qualitative or quantitative defects of beta-sarcoglycan skos:exactMatch MEDGEN:418943 semapv:UnspecifiedMatching MONDO:0016142 qualitative or quantitative defects of beta-sarcoglycan skos:exactMatch Orphanet:207063 Qualitative or quantitative defects of beta-sarcoglycan semapv:UnspecifiedMatching MONDO:0016142 qualitative or quantitative defects of beta-sarcoglycan skos:exactMatch UMLS:C2930900 semapv:UnspecifiedMatching MONDO:0016142 qualitative or quantitative defects of beta-sarcoglycan skos:exactMatch mesh:C535435 semapv:UnspecifiedMatching MONDO:0016143 qualitative or quantitative defects of gamma-sarcoglycan skos:exactMatch MEDGEN:1842385 semapv:UnspecifiedMatching MONDO:0016143 qualitative or quantitative defects of gamma-sarcoglycan skos:exactMatch Orphanet:207067 Qualitative or quantitative defects of gamma-sarcoglycan semapv:UnspecifiedMatching MONDO:0016143 qualitative or quantitative defects of gamma-sarcoglycan skos:exactMatch UMLS:C5680805 semapv:UnspecifiedMatching MONDO:0016144 qualitative or quantitative defects of delta-sarcoglycan skos:exactMatch MEDGEN:1826098 semapv:UnspecifiedMatching MONDO:0016144 qualitative or quantitative defects of delta-sarcoglycan skos:exactMatch Orphanet:207070 Qualitative or quantitative defects of delta-sarcoglycan semapv:UnspecifiedMatching MONDO:0016144 qualitative or quantitative defects of delta-sarcoglycan skos:exactMatch UMLS:C5680806 semapv:UnspecifiedMatching MONDO:0016145 neuromuscular disease caused by qualitative or quantitative defects of dysferlin skos:exactMatch MEDGEN:419874 semapv:UnspecifiedMatching MONDO:0016145 neuromuscular disease caused by qualitative or quantitative defects of dysferlin skos:exactMatch Orphanet:207073 Qualitative or quantitative defects of dysferlin semapv:UnspecifiedMatching MONDO:0016145 neuromuscular disease caused by qualitative or quantitative defects of dysferlin skos:exactMatch UMLS:C2931687 semapv:UnspecifiedMatching MONDO:0016145 neuromuscular disease caused by qualitative or quantitative defects of dysferlin skos:exactMatch mesh:C537995 semapv:UnspecifiedMatching MONDO:0016146 caveolinopathy skos:exactMatch MEDGEN:1826055 semapv:UnspecifiedMatching MONDO:0016146 caveolinopathy skos:exactMatch Orphanet:207078 Qualitative or quantitative defects of caveolin-3 semapv:UnspecifiedMatching MONDO:0016146 caveolinopathy skos:exactMatch UMLS:C5679790 semapv:UnspecifiedMatching MONDO:0016147 neuromuscular disease caused by qualitative or quantitative defects of dystrophin skos:exactMatch MEDGEN:1826053 semapv:UnspecifiedMatching MONDO:0016147 neuromuscular disease caused by qualitative or quantitative defects of dystrophin skos:exactMatch Orphanet:207085 Qualitative or quantitative defects of dystrophin semapv:UnspecifiedMatching MONDO:0016147 neuromuscular disease caused by qualitative or quantitative defects of dystrophin skos:exactMatch UMLS:C5679787 semapv:UnspecifiedMatching MONDO:0016149 obsolete qualitative or quantitative defects of merosin skos:exactMatch Orphanet:207094 Laminin subunit alpha 2-related muscular dystrophy semapv:UnspecifiedMatching MONDO:0016150 obsolete qualitative or quantitative defects of integrin alpha-7 skos:exactMatch Orphanet:207098 Qualitative or quantitative defects of integrin alpha-7 semapv:UnspecifiedMatching MONDO:0016151 neuromuscular disease caused by qualitative or quantitative defects of perlecan skos:exactMatch MEDGEN:1842752 semapv:UnspecifiedMatching MONDO:0016151 neuromuscular disease caused by qualitative or quantitative defects of perlecan skos:exactMatch Orphanet:207101 Qualitative or quantitative defects of perlecan semapv:UnspecifiedMatching MONDO:0016151 neuromuscular disease caused by qualitative or quantitative defects of perlecan skos:exactMatch UMLS:C5680831 semapv:UnspecifiedMatching MONDO:0016152 obsolete qualitative or quantitative defects of calpain skos:exactMatch Orphanet:207104 Qualitative or quantitative defects of calpain semapv:UnspecifiedMatching MONDO:0016153 neuromuscular disease caused by qualitative or quantitative defects of TRIM32 skos:exactMatch MEDGEN:1843261 semapv:UnspecifiedMatching MONDO:0016153 neuromuscular disease caused by qualitative or quantitative defects of TRIM32 skos:exactMatch Orphanet:207107 Qualitative or quantitative defects of TRIM32 semapv:UnspecifiedMatching MONDO:0016153 neuromuscular disease caused by qualitative or quantitative defects of TRIM32 skos:exactMatch UMLS:C5680829 semapv:UnspecifiedMatching MONDO:0016154 obsolete qualitative or quantitative defects of myotubularin skos:exactMatch Orphanet:207110 Qualitative or quantitative defects of myotubularin semapv:UnspecifiedMatching MONDO:0016155 qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan skos:exactMatch MEDGEN:1842564 semapv:UnspecifiedMatching MONDO:0016155 qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan skos:exactMatch Orphanet:207113 Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan semapv:UnspecifiedMatching MONDO:0016155 qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan skos:exactMatch UMLS:C5679795 semapv:UnspecifiedMatching MONDO:0016156 qualitative or quantitative defects of FKRP skos:exactMatch MEDGEN:1842706 semapv:UnspecifiedMatching MONDO:0016156 qualitative or quantitative defects of FKRP skos:exactMatch Orphanet:207119 Qualitative or quantitative defects of FKRP semapv:UnspecifiedMatching MONDO:0016156 qualitative or quantitative defects of FKRP skos:exactMatch UMLS:C5680827 semapv:UnspecifiedMatching MONDO:0016157 obsolete qualitative or quantitative defects of fukutin skos:exactMatch Orphanet:207122 Qualitative or quantitative defects of fukutin semapv:UnspecifiedMatching MONDO:0016158 narcolepsy-cataplexy syndrome skos:exactMatch ICD10CM:G47.4 Narcolepsy and cataplexy semapv:UnspecifiedMatching MONDO:0016158 narcolepsy-cataplexy syndrome skos:exactMatch ICD10CM:G47.411 Narcolepsy with cataplexy semapv:UnspecifiedMatching MONDO:0016158 narcolepsy-cataplexy syndrome skos:exactMatch MEDGEN:199638 semapv:UnspecifiedMatching MONDO:0016158 narcolepsy-cataplexy syndrome skos:exactMatch Orphanet:2073 Narcolepsy type 1 semapv:UnspecifiedMatching MONDO:0016158 narcolepsy-cataplexy syndrome skos:exactMatch UMLS:C0751362 semapv:UnspecifiedMatching MONDO:0016158 narcolepsy-cataplexy syndrome skos:exactMatch icd11.foundation:1851015159 Narcolepsy, Type 1 semapv:UnspecifiedMatching MONDO:0016159 Gemignani syndrome skos:exactMatch MEDGEN:444093 semapv:UnspecifiedMatching MONDO:0016159 Gemignani syndrome skos:exactMatch Orphanet:2074 Gemignani syndrome semapv:UnspecifiedMatching MONDO:0016159 Gemignani syndrome skos:exactMatch UMLS:C2931587 semapv:UnspecifiedMatching MONDO:0016159 Gemignani syndrome skos:exactMatch mesh:C537678 semapv:UnspecifiedMatching MONDO:0016160 X-linked intellectual disability-epilepsy syndrome skos:exactMatch MEDGEN:1842841 semapv:UnspecifiedMatching MONDO:0016160 X-linked intellectual disability-epilepsy syndrome skos:exactMatch Orphanet:2076 X-linked intellectual disability-epilepsy syndrome semapv:UnspecifiedMatching MONDO:0016160 X-linked intellectual disability-epilepsy syndrome skos:exactMatch UMLS:C5680771 semapv:UnspecifiedMatching MONDO:0016161 cerebral gigantism-jaw cysts syndrome skos:exactMatch SCTID:725418006 semapv:UnspecifiedMatching MONDO:0016162 bilateral frontal polymicrogyria skos:exactMatch DOID:0080921 bilateral frontal polymicrogyria semapv:UnspecifiedMatching MONDO:0016162 bilateral frontal polymicrogyria skos:exactMatch MEDGEN:1754014 semapv:UnspecifiedMatching MONDO:0016162 bilateral frontal polymicrogyria skos:exactMatch Orphanet:208444 Bilateral frontal polymicrogyria semapv:UnspecifiedMatching MONDO:0016162 bilateral frontal polymicrogyria skos:exactMatch UMLS:C5437679 semapv:UnspecifiedMatching MONDO:0016162 bilateral frontal polymicrogyria skos:exactMatch icd11.foundation:688947844 Bilateral frontal polymicrogyria semapv:UnspecifiedMatching MONDO:0016163 spinocerebellar ataxia 7 skos:exactMatch DOID:0050958 spinocerebellar ataxia 7 semapv:UnspecifiedMatching MONDO:0016163 spinocerebellar ataxia 7 skos:exactMatch MEDGEN:156006 semapv:UnspecifiedMatching MONDO:0016163 spinocerebellar ataxia 7 skos:exactMatch NCIT:C126562 Spinocerebellar Ataxia Type 7 semapv:UnspecifiedMatching MONDO:0016163 spinocerebellar ataxia 7 skos:exactMatch OMIM:164500 spinocerebellar ataxia 7 semapv:UnspecifiedMatching MONDO:0016163 spinocerebellar ataxia 7 skos:exactMatch Orphanet:208508 Autosomal dominant cerebellar ataxia type II semapv:UnspecifiedMatching MONDO:0016163 spinocerebellar ataxia 7 skos:exactMatch Orphanet:94147 Spinocerebellar ataxia type 7 semapv:UnspecifiedMatching MONDO:0016163 spinocerebellar ataxia 7 skos:exactMatch SCTID:715726000 semapv:UnspecifiedMatching MONDO:0016163 spinocerebellar ataxia 7 skos:exactMatch UMLS:C0752125 semapv:UnspecifiedMatching MONDO:0016164 herpetiform pemphigus skos:exactMatch MEDGEN:1655315 semapv:UnspecifiedMatching MONDO:0016164 herpetiform pemphigus skos:exactMatch Orphanet:208524 Herpetiform pemphigus semapv:UnspecifiedMatching MONDO:0016164 herpetiform pemphigus skos:exactMatch UMLS:C4749730 semapv:UnspecifiedMatching MONDO:0016165 hereditary hypoparathyroidism skos:exactMatch MEDGEN:1842344 semapv:UnspecifiedMatching MONDO:0016165 hereditary hypoparathyroidism skos:exactMatch Orphanet:208593 Genetic hypoparathyroidism semapv:UnspecifiedMatching MONDO:0016165 hereditary hypoparathyroidism skos:exactMatch UMLS:C5680825 semapv:UnspecifiedMatching MONDO:0016166 hereditary hyperparathyroidism skos:exactMatch MEDGEN:1843372 semapv:UnspecifiedMatching MONDO:0016166 hereditary hyperparathyroidism skos:exactMatch OMIMPS:145000 Hyperparathyroidism semapv:UnspecifiedMatching MONDO:0016166 hereditary hyperparathyroidism skos:exactMatch Orphanet:208596 Genetic hyperparathyroidism semapv:UnspecifiedMatching MONDO:0016166 hereditary hyperparathyroidism skos:exactMatch UMLS:C5680826 semapv:UnspecifiedMatching MONDO:0016167 optic pathway glioma skos:exactMatch MEDGEN:162950 semapv:UnspecifiedMatching MONDO:0016167 optic pathway glioma skos:exactMatch NCIT:C8567 Visual Pathway Glioma semapv:UnspecifiedMatching MONDO:0016167 optic pathway glioma skos:exactMatch Orphanet:2086 Optic pathway glioma semapv:UnspecifiedMatching MONDO:0016167 optic pathway glioma skos:exactMatch UMLS:C0796418 semapv:UnspecifiedMatching MONDO:0016167 optic pathway glioma skos:exactMatch icd11.foundation:1000103370 Optic pathway glioma semapv:UnspecifiedMatching MONDO:0016168 cryopyrin-associated periodic syndrome skos:exactMatch MEDGEN:412215 semapv:UnspecifiedMatching MONDO:0016168 cryopyrin-associated periodic syndrome skos:exactMatch NCIT:C84657 Cryopyrin-Associated Periodic Syndrome semapv:UnspecifiedMatching MONDO:0016168 cryopyrin-associated periodic syndrome skos:exactMatch Orphanet:208650 NLRP3-associated autoinflammatory disease semapv:UnspecifiedMatching MONDO:0016168 cryopyrin-associated periodic syndrome skos:exactMatch SCTID:430079001 semapv:UnspecifiedMatching MONDO:0016168 cryopyrin-associated periodic syndrome skos:exactMatch UMLS:C2316212 semapv:UnspecifiedMatching MONDO:0016168 cryopyrin-associated periodic syndrome skos:exactMatch icd11.foundation:2139918612 Cryopyrin-associated periodic syndromes semapv:UnspecifiedMatching MONDO:0016168 cryopyrin-associated periodic syndrome skos:exactMatch mesh:D056587 semapv:UnspecifiedMatching MONDO:0016169 obsolete chronic acquired demyelinating polyneuropathy skos:exactMatch Orphanet:208974 Chronic acquired demyelinating polyneuropathy semapv:UnspecifiedMatching MONDO:0016170 obsolete chronic polyradiculoneuropathy skos:exactMatch Orphanet:208978 Chronic polyradiculoneuropathy semapv:UnspecifiedMatching MONDO:0016172 obsolete acquired sensory ganglionopathy skos:exactMatch Orphanet:208984 Acquired sensory ganglionopathy semapv:UnspecifiedMatching MONDO:0016175 cutis laxa skos:exactMatch DOID:3144 cutis laxa semapv:UnspecifiedMatching MONDO:0016175 cutis laxa skos:exactMatch MEDGEN:8206 semapv:UnspecifiedMatching MONDO:0016175 cutis laxa skos:exactMatch NCIT:C84663 Cutis Laxa semapv:UnspecifiedMatching MONDO:0016175 cutis laxa skos:exactMatch Orphanet:209 Cutis laxa semapv:UnspecifiedMatching MONDO:0016175 cutis laxa skos:exactMatch SCTID:58588007 semapv:UnspecifiedMatching MONDO:0016175 cutis laxa skos:exactMatch UMLS:C0010495 semapv:UnspecifiedMatching MONDO:0016175 cutis laxa skos:exactMatch icd11.foundation:1227401566 Cutis laxa semapv:UnspecifiedMatching MONDO:0016175 cutis laxa skos:exactMatch mesh:D003483 semapv:UnspecifiedMatching MONDO:0016176 axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy skos:exactMatch MEDGEN:1876718 semapv:UnspecifiedMatching MONDO:0016176 axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy skos:exactMatch Orphanet:209004 Polyneuropathy associated with IgM monoclonal gammopathy semapv:UnspecifiedMatching MONDO:0016176 axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy skos:exactMatch UMLS:C6012217 semapv:UnspecifiedMatching MONDO:0016177 obsolete systemic inflammatory disease associated with an acquired peripheral neuropathy skos:exactMatch Orphanet:209007 Systemic inflammatory disease associated with an acquired peripheral neuropathy semapv:UnspecifiedMatching MONDO:0016178 obsolete peripheral neuropathy associated with monoclonal gammopathy skos:exactMatch Orphanet:209010 Peripheral neuropathy associated with monoclonal gammopathy semapv:UnspecifiedMatching MONDO:0016179 obsolete acquired amyloid peripheral neuropathy skos:exactMatch Orphanet:209013 Acquired amyloid peripheral neuropathy semapv:UnspecifiedMatching MONDO:0016180 obsolete hematological disease associated with an acquired peripheral neuropathy skos:exactMatch Orphanet:209016 Hematological disease associated with an acquired peripheral neuropathy semapv:UnspecifiedMatching MONDO:0016181 obsolete solid tumor associated with an acquired peripheral neuropathy skos:exactMatch Orphanet:209019 Solid tumor associated with an acquired peripheral neuropathy semapv:UnspecifiedMatching MONDO:0016182 obsolete qualitative or quantitative defects of protein O-mannose beta1, 2N-acetylglucosaminyltransferase skos:exactMatch Orphanet:209024 Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase semapv:UnspecifiedMatching MONDO:0016183 obsolete qualitative or quantitative defects of protein glycosyltransferase-like skos:exactMatch Orphanet:209027 Qualitative or quantitative defects of protein glycosyltransferase-like semapv:UnspecifiedMatching MONDO:0016184 qualitative or quantitative defects of protein O-mannosyltransferase 1 skos:exactMatch MEDGEN:1842612 semapv:UnspecifiedMatching MONDO:0016184 qualitative or quantitative defects of protein O-mannosyltransferase 1 skos:exactMatch Orphanet:209030 Qualitative or quantitative defects of protein O-mannosyltransferase 1 semapv:UnspecifiedMatching MONDO:0016184 qualitative or quantitative defects of protein O-mannosyltransferase 1 skos:exactMatch UMLS:C5680849 semapv:UnspecifiedMatching MONDO:0016185 qualitative or quantitative defects of protein O-mannosyltransferase 2 skos:exactMatch MEDGEN:1842845 semapv:UnspecifiedMatching MONDO:0016185 qualitative or quantitative defects of protein O-mannosyltransferase 2 skos:exactMatch Orphanet:209033 Qualitative or quantitative defects of protein O-mannosyltransferase 2 semapv:UnspecifiedMatching MONDO:0016185 qualitative or quantitative defects of protein O-mannosyltransferase 2 skos:exactMatch UMLS:C5680852 semapv:UnspecifiedMatching MONDO:0016186 neuromuscular disease caused by qualitative or quantitative defects of myofibrillar proteins skos:exactMatch MEDGEN:1842566 semapv:UnspecifiedMatching MONDO:0016186 neuromuscular disease caused by qualitative or quantitative defects of myofibrillar proteins skos:exactMatch Orphanet:209038 Qualitative or quantitative defects of myofibrillar proteins semapv:UnspecifiedMatching MONDO:0016186 neuromuscular disease caused by qualitative or quantitative defects of myofibrillar proteins skos:exactMatch UMLS:C5680851 semapv:UnspecifiedMatching MONDO:0016187 qualitative or quantitative defects of desmin skos:exactMatch MEDGEN:1842905 semapv:UnspecifiedMatching MONDO:0016187 qualitative or quantitative defects of desmin skos:exactMatch Orphanet:209041 Qualitative or quantitative defects of desmin semapv:UnspecifiedMatching MONDO:0016187 qualitative or quantitative defects of desmin skos:exactMatch UMLS:C5680839 semapv:UnspecifiedMatching MONDO:0016188 qualitative or quantitative defects of alphaB-cristallin skos:exactMatch MEDGEN:1843314 semapv:UnspecifiedMatching MONDO:0016188 qualitative or quantitative defects of alphaB-cristallin skos:exactMatch Orphanet:209044 Qualitative or quantitative defects of alphaB-cristallin semapv:UnspecifiedMatching MONDO:0016188 qualitative or quantitative defects of alphaB-cristallin skos:exactMatch UMLS:C5680838 semapv:UnspecifiedMatching MONDO:0016189 qualitative or quantitative defects of filamin C skos:exactMatch MEDGEN:1843024 semapv:UnspecifiedMatching MONDO:0016189 qualitative or quantitative defects of filamin C skos:exactMatch Orphanet:209047 Qualitative or quantitative defects of filamin C semapv:UnspecifiedMatching MONDO:0016189 qualitative or quantitative defects of filamin C skos:exactMatch UMLS:C5680841 semapv:UnspecifiedMatching MONDO:0016190 qualitative or quantitative defects of protein ZASP skos:exactMatch MEDGEN:1842575 semapv:UnspecifiedMatching MONDO:0016190 qualitative or quantitative defects of protein ZASP skos:exactMatch Orphanet:209050 Qualitative or quantitative defects of protein ZASP semapv:UnspecifiedMatching MONDO:0016190 qualitative or quantitative defects of protein ZASP skos:exactMatch UMLS:C5680840 semapv:UnspecifiedMatching MONDO:0016191 neuromuscular disease caused by qualitative or quantitative defects of titin skos:exactMatch MEDGEN:1843244 semapv:UnspecifiedMatching MONDO:0016191 neuromuscular disease caused by qualitative or quantitative defects of titin skos:exactMatch Orphanet:209053 Qualitative or quantitative defects of titin semapv:UnspecifiedMatching MONDO:0016191 neuromuscular disease caused by qualitative or quantitative defects of titin skos:exactMatch UMLS:C5680843 semapv:UnspecifiedMatching MONDO:0016192 neuromuscular disease caused by qualitative or quantitative defects of telethonin skos:exactMatch MEDGEN:1842233 semapv:UnspecifiedMatching MONDO:0016192 neuromuscular disease caused by qualitative or quantitative defects of telethonin skos:exactMatch Orphanet:209056 Qualitative or quantitative defects of telethonin semapv:UnspecifiedMatching MONDO:0016192 neuromuscular disease caused by qualitative or quantitative defects of telethonin skos:exactMatch UMLS:C5680842 semapv:UnspecifiedMatching MONDO:0016193 neuromuscular disease caused by qualitative or quantitative defects of alpha-actin skos:exactMatch MEDGEN:1842305 semapv:UnspecifiedMatching MONDO:0016193 neuromuscular disease caused by qualitative or quantitative defects of alpha-actin skos:exactMatch Orphanet:209059 Qualitative or quantitative defects of alpha-actin semapv:UnspecifiedMatching MONDO:0016193 neuromuscular disease caused by qualitative or quantitative defects of alpha-actin skos:exactMatch UMLS:C5680845 semapv:UnspecifiedMatching MONDO:0016194 neuromuscular disease caused by qualitative or quantitative defects of nebulin skos:exactMatch MEDGEN:1842429 semapv:UnspecifiedMatching MONDO:0016194 neuromuscular disease caused by qualitative or quantitative defects of nebulin skos:exactMatch Orphanet:209182 Qualitative or quantitative defects of nebulin semapv:UnspecifiedMatching MONDO:0016194 neuromuscular disease caused by qualitative or quantitative defects of nebulin skos:exactMatch UMLS:C5680844 semapv:UnspecifiedMatching MONDO:0016195 neuromuscular disease caused by qualitative or quantitative defects of beta-myosin heavy chain (MYH7) skos:exactMatch MEDGEN:1842636 semapv:UnspecifiedMatching MONDO:0016195 neuromuscular disease caused by qualitative or quantitative defects of beta-myosin heavy chain (MYH7) skos:exactMatch Orphanet:209185 Qualitative or quantitative defects of beta-myosin heavy chain (MYH7) semapv:UnspecifiedMatching MONDO:0016195 neuromuscular disease caused by qualitative or quantitative defects of beta-myosin heavy chain (MYH7) skos:exactMatch UMLS:C5680832 semapv:UnspecifiedMatching MONDO:0016196 obsolete qualitative or quantitative defects of emerin skos:exactMatch Orphanet:209188 Qualitative or quantitative defects of emerin semapv:UnspecifiedMatching MONDO:0016197 neuromuscular disease caused by qualitative or quantitative defects of selenoprotein N1 skos:exactMatch MEDGEN:1842545 semapv:UnspecifiedMatching MONDO:0016197 neuromuscular disease caused by qualitative or quantitative defects of selenoprotein N1 skos:exactMatch Orphanet:209193 Qualitative or quantitative defects of selenoprotein N1 semapv:UnspecifiedMatching MONDO:0016197 neuromuscular disease caused by qualitative or quantitative defects of selenoprotein N1 skos:exactMatch UMLS:C5680834 semapv:UnspecifiedMatching MONDO:0016198 neuromuscular disease caused by qualitative or quantitative defects of plectin skos:exactMatch MEDGEN:1842345 semapv:UnspecifiedMatching MONDO:0016198 neuromuscular disease caused by qualitative or quantitative defects of plectin skos:exactMatch Orphanet:209196 Qualitative or quantitative defects of plectin semapv:UnspecifiedMatching MONDO:0016198 neuromuscular disease caused by qualitative or quantitative defects of plectin skos:exactMatch UMLS:C5680835 semapv:UnspecifiedMatching MONDO:0016199 neuromuscular disease caused by qualitative or quantitative defects of protein SERCA1 skos:exactMatch MEDGEN:1843114 semapv:UnspecifiedMatching MONDO:0016199 neuromuscular disease caused by qualitative or quantitative defects of protein SERCA1 skos:exactMatch Orphanet:209199 Qualitative or quantitative defects of protein SERCA1 semapv:UnspecifiedMatching MONDO:0016199 neuromuscular disease caused by qualitative or quantitative defects of protein SERCA1 skos:exactMatch UMLS:C5680836 semapv:UnspecifiedMatching MONDO:0016200 obsolete qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase skos:exactMatch Orphanet:209203 Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase - semapv:UnspecifiedMatching MONDO:0016201 obsolete qualitative or quantitative defects of myotilin skos:exactMatch Orphanet:209224 Myotilinopathy semapv:UnspecifiedMatching MONDO:0016202 autosomal dominant rhegmatogenous retinal detachment skos:exactMatch MEDGEN:322821 semapv:UnspecifiedMatching MONDO:0016202 autosomal dominant rhegmatogenous retinal detachment skos:exactMatch Orphanet:209867 Autosomal dominant rhegmatogenous retinal detachment semapv:UnspecifiedMatching MONDO:0016202 autosomal dominant rhegmatogenous retinal detachment skos:exactMatch UMLS:C1836081 semapv:UnspecifiedMatching MONDO:0016202 autosomal dominant rhegmatogenous retinal detachment skos:exactMatch icd11.foundation:1308905567 Autosomal dominant rhegmatogenous retinal detachment semapv:UnspecifiedMatching MONDO:0016203 hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency skos:exactMatch MEDGEN:1653798 semapv:UnspecifiedMatching MONDO:0016203 hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency skos:exactMatch Orphanet:209902 Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency semapv:UnspecifiedMatching MONDO:0016203 hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency skos:exactMatch UMLS:C4751204 semapv:UnspecifiedMatching MONDO:0016204 idiopathic copper-associated cirrhosis skos:exactMatch MEDGEN:907284 semapv:UnspecifiedMatching MONDO:0016204 idiopathic copper-associated cirrhosis skos:exactMatch Orphanet:209919 Idiopathic copper-associated cirrhosis semapv:UnspecifiedMatching MONDO:0016204 idiopathic copper-associated cirrhosis skos:exactMatch SCTID:715864007 semapv:UnspecifiedMatching MONDO:0016204 idiopathic copper-associated cirrhosis skos:exactMatch UMLS:C4274853 semapv:UnspecifiedMatching MONDO:0016204 idiopathic copper-associated cirrhosis skos:exactMatch icd11.foundation:1692504835 Idiopathic copper-associated cirrhosis semapv:UnspecifiedMatching MONDO:0016205 IRVAN syndrome skos:exactMatch MEDGEN:1435227 semapv:UnspecifiedMatching MONDO:0016205 IRVAN syndrome skos:exactMatch Orphanet:209943 IRVAN syndrome semapv:UnspecifiedMatching MONDO:0016205 IRVAN syndrome skos:exactMatch UMLS:C3665812 semapv:UnspecifiedMatching MONDO:0016205 IRVAN syndrome skos:exactMatch icd11.foundation:498393228 IRVAN syndrome semapv:UnspecifiedMatching MONDO:0016206 idiopathic uveal effusion syndrome skos:exactMatch MEDGEN:1669541 semapv:UnspecifiedMatching MONDO:0016206 idiopathic uveal effusion syndrome skos:exactMatch Orphanet:209956 Idiopathic uveal effusion syndrome semapv:UnspecifiedMatching MONDO:0016206 idiopathic uveal effusion syndrome skos:exactMatch UMLS:C4755300 semapv:UnspecifiedMatching MONDO:0016206 idiopathic uveal effusion syndrome skos:exactMatch icd11.foundation:1481963661 Idiopathic uveal effusion syndrome semapv:UnspecifiedMatching MONDO:0016207 phacoanaphylactic uveitis skos:exactMatch MEDGEN:731803 semapv:UnspecifiedMatching MONDO:0016207 phacoanaphylactic uveitis skos:exactMatch Orphanet:209959 Phacoanaphylactic uveitis semapv:UnspecifiedMatching MONDO:0016207 phacoanaphylactic uveitis skos:exactMatch SCTID:410494003 semapv:UnspecifiedMatching MONDO:0016207 phacoanaphylactic uveitis skos:exactMatch UMLS:C1444621 semapv:UnspecifiedMatching MONDO:0016208 solitary rectal ulcer syndrome skos:exactMatch MEDGEN:906337 semapv:UnspecifiedMatching MONDO:0016208 solitary rectal ulcer syndrome skos:exactMatch Orphanet:209964 Solitary rectal ulcer syndrome semapv:UnspecifiedMatching MONDO:0016208 solitary rectal ulcer syndrome skos:exactMatch SCTID:716685003 semapv:UnspecifiedMatching MONDO:0016208 solitary rectal ulcer syndrome skos:exactMatch UMLS:C4274343 semapv:UnspecifiedMatching MONDO:0016208 solitary rectal ulcer syndrome skos:exactMatch icd11.foundation:1677843970 Solitary rectal ulcer syndrome semapv:UnspecifiedMatching MONDO:0016209 benign familial nocturnal alternating hemiplegia of childhood skos:exactMatch MEDGEN:1668716 semapv:UnspecifiedMatching MONDO:0016209 benign familial nocturnal alternating hemiplegia of childhood skos:exactMatch Orphanet:209973 Benign nocturnal alternating hemiplegia of childhood semapv:UnspecifiedMatching MONDO:0016209 benign familial nocturnal alternating hemiplegia of childhood skos:exactMatch UMLS:C4749822 semapv:UnspecifiedMatching MONDO:0016209 benign familial nocturnal alternating hemiplegia of childhood skos:exactMatch icd11.foundation:447920235 Benign familial nocturnal alternating hemiplegia of childhood semapv:UnspecifiedMatching MONDO:0016210 alternating hemiplegia skos:exactMatch MEDGEN:124456 semapv:UnspecifiedMatching MONDO:0016210 alternating hemiplegia skos:exactMatch Orphanet:209978 Alternating hemiplegia semapv:UnspecifiedMatching MONDO:0016210 alternating hemiplegia skos:exactMatch SCTID:404689008 semapv:UnspecifiedMatching MONDO:0016210 alternating hemiplegia skos:exactMatch UMLS:C0278110 semapv:UnspecifiedMatching MONDO:0016210 alternating hemiplegia skos:exactMatch icd11.foundation:774373615 Alternating hemiplegia semapv:UnspecifiedMatching MONDO:0016211 non-papillary transitional cell carcinoma of the bladder skos:exactMatch icd11.foundation:1541108245 Non-papillary transitional cell carcinoma of the bladder semapv:UnspecifiedMatching MONDO:0016213 leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome skos:exactMatch MEDGEN:1654873 semapv:UnspecifiedMatching MONDO:0016213 leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome skos:exactMatch Orphanet:210133 Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome semapv:UnspecifiedMatching MONDO:0016213 leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome skos:exactMatch UMLS:C4751169 semapv:UnspecifiedMatching MONDO:0016214 pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome skos:exactMatch MEDGEN:1385709 semapv:UnspecifiedMatching MONDO:0016214 pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome skos:exactMatch Orphanet:210136 Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome semapv:UnspecifiedMatching MONDO:0016214 pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome skos:exactMatch UMLS:C4510085 semapv:UnspecifiedMatching MONDO:0016215 spastic quadriplegic cerebral palsy skos:exactMatch DOID:10970 spastic quadriplegic cerebral palsy semapv:UnspecifiedMatching MONDO:0016215 spastic quadriplegic cerebral palsy skos:exactMatch ICD10CM:G80.0 Spastic quadriplegic cerebral palsy semapv:UnspecifiedMatching MONDO:0016215 spastic quadriplegic cerebral palsy skos:exactMatch MEDGEN:98433 semapv:UnspecifiedMatching MONDO:0016215 spastic quadriplegic cerebral palsy skos:exactMatch NCIT:C116904 Spastic Quadriplegia semapv:UnspecifiedMatching MONDO:0016215 spastic quadriplegic cerebral palsy skos:exactMatch OMIMPS:612900 Spastic quadriplegic cerebral palsy semapv:UnspecifiedMatching MONDO:0016215 spastic quadriplegic cerebral palsy skos:exactMatch Orphanet:210141 Inherited congenital spastic tetraplegia semapv:UnspecifiedMatching MONDO:0016215 spastic quadriplegic cerebral palsy skos:exactMatch SCTID:192965001 semapv:UnspecifiedMatching MONDO:0016215 spastic quadriplegic cerebral palsy skos:exactMatch UMLS:C0426970 semapv:UnspecifiedMatching MONDO:0016215 spastic quadriplegic cerebral palsy skos:exactMatch icd11.foundation:1155284708 Spastic quadriplegic cerebral palsy semapv:UnspecifiedMatching MONDO:0016216 adult hepatocellular carcinoma skos:exactMatch DOID:0070328 adult hepatocellular carcinoma semapv:UnspecifiedMatching MONDO:0016216 adult hepatocellular carcinoma skos:exactMatch MEDGEN:124633 semapv:UnspecifiedMatching MONDO:0016216 adult hepatocellular carcinoma skos:exactMatch NCIT:C7956 Adult Hepatocellular Carcinoma semapv:UnspecifiedMatching MONDO:0016216 adult hepatocellular carcinoma skos:exactMatch Orphanet:210159 Adult hepatocellular carcinoma semapv:UnspecifiedMatching MONDO:0016216 adult hepatocellular carcinoma skos:exactMatch UMLS:C0279607 semapv:UnspecifiedMatching MONDO:0016217 mal de Debarquement skos:exactMatch MEDGEN:345629 semapv:UnspecifiedMatching MONDO:0016217 mal de Debarquement skos:exactMatch Orphanet:210272 Mal de débarquement semapv:UnspecifiedMatching MONDO:0016217 mal de Debarquement skos:exactMatch SCTID:446079007 semapv:UnspecifiedMatching MONDO:0016217 mal de Debarquement skos:exactMatch UMLS:C1608983 semapv:UnspecifiedMatching MONDO:0016217 mal de Debarquement skos:exactMatch icd11.foundation:459420954 Disembarkment syndrome semapv:UnspecifiedMatching MONDO:0016217 mal de Debarquement skos:exactMatch mesh:C537840 semapv:UnspecifiedMatching MONDO:0016218 Guillain-Barre syndrome skos:exactMatch DOID:12842 Guillain-Barre syndrome semapv:UnspecifiedMatching MONDO:0016218 Guillain-Barre syndrome skos:exactMatch EFO:0007292 semapv:UnspecifiedMatching MONDO:0016218 Guillain-Barre syndrome skos:exactMatch ICD10CM:G61.0 Guillain-Barre syndrome semapv:UnspecifiedMatching MONDO:0016218 Guillain-Barre syndrome skos:exactMatch MEDGEN:5399 semapv:UnspecifiedMatching MONDO:0016218 Guillain-Barre syndrome skos:exactMatch NCIT:C116345 Guillain-Barre Syndrome semapv:UnspecifiedMatching MONDO:0016218 Guillain-Barre syndrome skos:exactMatch Orphanet:2103 Guillain-Barré syndrome semapv:UnspecifiedMatching MONDO:0016218 Guillain-Barre syndrome skos:exactMatch SCTID:40956001 semapv:UnspecifiedMatching MONDO:0016218 Guillain-Barre syndrome skos:exactMatch UMLS:C0018378 semapv:UnspecifiedMatching MONDO:0016218 Guillain-Barre syndrome skos:exactMatch mesh:D020275 semapv:UnspecifiedMatching MONDO:0016219 dysmorphism-pectus carinatum-joint laxity syndrome skos:exactMatch MEDGEN:1385827 semapv:UnspecifiedMatching MONDO:0016219 dysmorphism-pectus carinatum-joint laxity syndrome skos:exactMatch Orphanet:2104 Dysmorphism-pectus carinatum-joint laxity syndrome semapv:UnspecifiedMatching MONDO:0016219 dysmorphism-pectus carinatum-joint laxity syndrome skos:exactMatch UMLS:C4518558 semapv:UnspecifiedMatching MONDO:0016220 congenital temporomandibular joint ankylosis skos:exactMatch MEDGEN:1638477 semapv:UnspecifiedMatching MONDO:0016220 congenital temporomandibular joint ankylosis skos:exactMatch Orphanet:210576 Congenital temporomandibular joint ankylosis semapv:UnspecifiedMatching MONDO:0016220 congenital temporomandibular joint ankylosis skos:exactMatch SCTID:763215008 semapv:UnspecifiedMatching MONDO:0016220 congenital temporomandibular joint ankylosis skos:exactMatch UMLS:C4706319 semapv:UnspecifiedMatching MONDO:0016221 obsolete temporomandibular joint anomaly skos:exactMatch Orphanet:210581 Temporomandibular joint anomaly semapv:UnspecifiedMatching MONDO:0016222 spindle cell hemangioma skos:exactMatch DOID:496 spindle cell hemangioma semapv:UnspecifiedMatching MONDO:0016222 spindle cell hemangioma skos:exactMatch MEDGEN:224916 semapv:UnspecifiedMatching MONDO:0016222 spindle cell hemangioma skos:exactMatch NCIT:C4754 Spindle Cell Hemangioma semapv:UnspecifiedMatching MONDO:0016222 spindle cell hemangioma skos:exactMatch Orphanet:210584 Spindle cell hemangioma semapv:UnspecifiedMatching MONDO:0016222 spindle cell hemangioma skos:exactMatch SCTID:403967000 semapv:UnspecifiedMatching MONDO:0016222 spindle cell hemangioma skos:exactMatch UMLS:C1304508 semapv:UnspecifiedMatching MONDO:0016223 infantile hemangioma of rare localization skos:exactMatch MEDGEN:825458 semapv:UnspecifiedMatching MONDO:0016223 infantile hemangioma of rare localization skos:exactMatch Orphanet:210589 Rare infantile hemangioma semapv:UnspecifiedMatching MONDO:0016223 infantile hemangioma of rare localization skos:exactMatch SCTID:703270004 semapv:UnspecifiedMatching MONDO:0016223 infantile hemangioma of rare localization skos:exactMatch UMLS:C3839613 semapv:UnspecifiedMatching MONDO:0016224 obsolete autosomal dominant proximal spinal muscular atrophy skos:exactMatch Orphanet:211037 Autosomal dominant proximal spinal muscular atrophy semapv:UnspecifiedMatching MONDO:0016225 specific learning disability skos:exactMatch MEDGEN:871302 semapv:UnspecifiedMatching MONDO:0016225 specific learning disability skos:exactMatch Orphanet:211047 Specific learning disability semapv:UnspecifiedMatching MONDO:0016225 specific learning disability skos:exactMatch UMLS:C4025790 semapv:UnspecifiedMatching MONDO:0016225 specific learning disability skos:exactMatch mesh:D000067559 semapv:UnspecifiedMatching MONDO:0016226 specific language disorder skos:exactMatch MEDGEN:1631585 semapv:UnspecifiedMatching MONDO:0016226 specific language disorder skos:exactMatch Orphanet:211053 Specific language disorder semapv:UnspecifiedMatching MONDO:0016226 specific language disorder skos:exactMatch UMLS:C4553954 semapv:UnspecifiedMatching MONDO:0016226 specific language disorder skos:exactMatch mesh:D000080888 semapv:UnspecifiedMatching MONDO:0016227 hereditary episodic ataxia skos:exactMatch DOID:963 episodic ataxia semapv:UnspecifiedMatching MONDO:0016227 hereditary episodic ataxia skos:exactMatch MEDGEN:314033 semapv:UnspecifiedMatching MONDO:0016227 hereditary episodic ataxia skos:exactMatch OMIMPS:160120 Episodic ataxia semapv:UnspecifiedMatching MONDO:0016227 hereditary episodic ataxia skos:exactMatch Orphanet:211062 Hereditary episodic ataxia semapv:UnspecifiedMatching MONDO:0016227 hereditary episodic ataxia skos:exactMatch SCTID:421455009 semapv:UnspecifiedMatching MONDO:0016227 hereditary episodic ataxia skos:exactMatch UMLS:C1720189 semapv:UnspecifiedMatching MONDO:0016227 hereditary episodic ataxia skos:exactMatch icd11.foundation:423095680 Hereditary episodic ataxia semapv:UnspecifiedMatching MONDO:0016228 obsolete rare vascular tumor skos:exactMatch Orphanet:211237 Rare vascular tumor semapv:UnspecifiedMatching MONDO:0016229 obsolete hereditary vascular anomaly skos:exactMatch Orphanet:211240 Genetic vascular anomaly semapv:UnspecifiedMatching MONDO:0016230 obsolete simple vascular malformation skos:exactMatch Orphanet:211243 Simple vascular malformation semapv:UnspecifiedMatching MONDO:0016231 capillary malformation skos:exactMatch MEDGEN:90955 semapv:UnspecifiedMatching MONDO:0016231 capillary malformation skos:exactMatch Orphanet:211247 Rare capillary malformation semapv:UnspecifiedMatching MONDO:0016231 capillary malformation skos:exactMatch SCTID:234118009 semapv:UnspecifiedMatching MONDO:0016231 capillary malformation skos:exactMatch UMLS:C0340803 semapv:UnspecifiedMatching MONDO:0016232 obsolete rare venous malformation skos:exactMatch Orphanet:211252 Rare venous malformation semapv:UnspecifiedMatching MONDO:0016233 obsolete rare lymphatic system malformation skos:exactMatch Orphanet:211255 Rare lymphatic system anomaly semapv:UnspecifiedMatching MONDO:0016234 obsolete rare arteriovenous malformation skos:exactMatch Orphanet:211266 Rare arteriovenous malformation semapv:UnspecifiedMatching MONDO:0016235 obsolete complex vascular malformation with associated anomalies skos:exactMatch Orphanet:211277 Complex vascular malformation with associated anomalies semapv:UnspecifiedMatching MONDO:0016236 kaposiform hemangioendothelioma skos:exactMatch MEDGEN:234548 semapv:UnspecifiedMatching MONDO:0016236 kaposiform hemangioendothelioma skos:exactMatch NCIT:C27510 Kaposiform Hemangioendothelioma semapv:UnspecifiedMatching MONDO:0016236 kaposiform hemangioendothelioma skos:exactMatch Orphanet:2122 Kaposiform hemangioendothelioma semapv:UnspecifiedMatching MONDO:0016236 kaposiform hemangioendothelioma skos:exactMatch SCTID:403983000 semapv:UnspecifiedMatching MONDO:0016236 kaposiform hemangioendothelioma skos:exactMatch UMLS:C1367420 semapv:UnspecifiedMatching MONDO:0016236 kaposiform hemangioendothelioma skos:exactMatch mesh:C537007 semapv:UnspecifiedMatching MONDO:0016237 diffuse neonatal hemangiomatosis skos:exactMatch MEDGEN:96888 semapv:UnspecifiedMatching MONDO:0016237 diffuse neonatal hemangiomatosis skos:exactMatch Orphanet:2123 Multifocal infantile hemangioma with extracutenous involvement semapv:UnspecifiedMatching MONDO:0016237 diffuse neonatal hemangiomatosis skos:exactMatch SCTID:254782003 semapv:UnspecifiedMatching MONDO:0016237 diffuse neonatal hemangiomatosis skos:exactMatch UMLS:C0474965 semapv:UnspecifiedMatching MONDO:0016238 solitary fibrous tumor skos:exactMatch MEDGEN:224764 semapv:UnspecifiedMatching MONDO:0016238 solitary fibrous tumor skos:exactMatch NCIT:C7634 Solitary Fibrous Tumor semapv:UnspecifiedMatching MONDO:0016238 solitary fibrous tumor skos:exactMatch Orphanet:2126 Solitary fibrous tumor semapv:UnspecifiedMatching MONDO:0016238 solitary fibrous tumor skos:exactMatch UMLS:C1266119 semapv:UnspecifiedMatching MONDO:0016238 solitary fibrous tumor skos:exactMatch mesh:D054364 semapv:UnspecifiedMatching MONDO:0016239 cystinosis skos:exactMatch DOID:1064 cystinosis semapv:UnspecifiedMatching MONDO:0016239 cystinosis skos:exactMatch ICD10CM:E72.04 Cystinosis semapv:UnspecifiedMatching MONDO:0016239 cystinosis skos:exactMatch MEDGEN:1384792 semapv:UnspecifiedMatching MONDO:0016239 cystinosis skos:exactMatch NCIT:C2976 Cystinosis semapv:UnspecifiedMatching MONDO:0016239 cystinosis skos:exactMatch Orphanet:213 Cystinosis semapv:UnspecifiedMatching MONDO:0016239 cystinosis skos:exactMatch SCTID:190681003 semapv:UnspecifiedMatching MONDO:0016239 cystinosis skos:exactMatch UMLS:C4316899 semapv:UnspecifiedMatching MONDO:0016239 cystinosis skos:exactMatch icd11.foundation:733715856 Cystinosis semapv:UnspecifiedMatching MONDO:0016239 cystinosis skos:exactMatch mesh:D003554 semapv:UnspecifiedMatching MONDO:0016240 hemimelia skos:exactMatch MEDGEN:9194 semapv:UnspecifiedMatching MONDO:0016240 hemimelia skos:exactMatch NCIT:C34674 Hemimelia semapv:UnspecifiedMatching MONDO:0016240 hemimelia skos:exactMatch Orphanet:2130 Non-syndromic hemimelia semapv:UnspecifiedMatching MONDO:0016240 hemimelia skos:exactMatch SCTID:33076008 semapv:UnspecifiedMatching MONDO:0016240 hemimelia skos:exactMatch UMLS:C0018987 semapv:UnspecifiedMatching MONDO:0016241 alternating hemiplegia of childhood skos:exactMatch DOID:0050635 alternating hemiplegia of childhood semapv:UnspecifiedMatching MONDO:0016241 alternating hemiplegia of childhood skos:exactMatch MEDGEN:90925 semapv:UnspecifiedMatching MONDO:0016241 alternating hemiplegia of childhood skos:exactMatch NCIT:C35261 Congenital Adrenal Gland Hypoplasia semapv:UnspecifiedMatching MONDO:0016241 alternating hemiplegia of childhood skos:exactMatch OMIMPS:104290 Alternating hemiplegia of childhood semapv:UnspecifiedMatching MONDO:0016241 alternating hemiplegia of childhood skos:exactMatch Orphanet:2131 Alternating hemiplegia of childhood semapv:UnspecifiedMatching MONDO:0016241 alternating hemiplegia of childhood skos:exactMatch SCTID:230466004 semapv:UnspecifiedMatching MONDO:0016241 alternating hemiplegia of childhood skos:exactMatch UMLS:C0338488 semapv:UnspecifiedMatching MONDO:0016241 alternating hemiplegia of childhood skos:exactMatch icd11.foundation:301329822 Alternating hemiplegia of childhood semapv:UnspecifiedMatching MONDO:0016241 alternating hemiplegia of childhood skos:exactMatch mesh:C536589 semapv:UnspecifiedMatching MONDO:0016242 hemoglobin C disease skos:exactMatch DOID:2859 hemoglobin C disease semapv:UnspecifiedMatching MONDO:0016242 hemoglobin C disease skos:exactMatch MEDGEN:6789 semapv:UnspecifiedMatching MONDO:0016242 hemoglobin C disease skos:exactMatch NCIT:C34675 Hemoglobin C Disease semapv:UnspecifiedMatching MONDO:0016242 hemoglobin C disease skos:exactMatch Orphanet:2132 Hemoglobin C disease semapv:UnspecifiedMatching MONDO:0016242 hemoglobin C disease skos:exactMatch SCTID:51053007 semapv:UnspecifiedMatching MONDO:0016242 hemoglobin C disease skos:exactMatch UMLS:C0019021 semapv:UnspecifiedMatching MONDO:0016242 hemoglobin C disease skos:exactMatch mesh:C531699 semapv:UnspecifiedMatching MONDO:0016242 hemoglobin C disease skos:exactMatch mesh:D006445 semapv:UnspecifiedMatching MONDO:0016243 hemoglobin E disease skos:exactMatch DOID:5379 hemoglobin E disease semapv:UnspecifiedMatching MONDO:0016243 hemoglobin E disease skos:exactMatch MEDGEN:68658 semapv:UnspecifiedMatching MONDO:0016243 hemoglobin E disease skos:exactMatch NCIT:C35287 Hemoglobin E Disease semapv:UnspecifiedMatching MONDO:0016243 hemoglobin E disease skos:exactMatch Orphanet:2133 Hemoglobin E disease semapv:UnspecifiedMatching MONDO:0016243 hemoglobin E disease skos:exactMatch SCTID:25065001 semapv:UnspecifiedMatching MONDO:0016243 hemoglobin E disease skos:exactMatch UMLS:C0238159 semapv:UnspecifiedMatching MONDO:0016243 hemoglobin E disease skos:exactMatch icd11.foundation:1898135714 Haemoglobin E disease semapv:UnspecifiedMatching MONDO:0016244 atypical hemolytic-uremic syndrome skos:exactMatch DOID:0080301 atypical hemolytic-uremic syndrome semapv:UnspecifiedMatching MONDO:0016244 atypical hemolytic-uremic syndrome skos:exactMatch MEDGEN:444141 semapv:UnspecifiedMatching MONDO:0016244 atypical hemolytic-uremic syndrome skos:exactMatch NCIT:C123223 Atypical Hemolytic Uremic Syndrome semapv:UnspecifiedMatching MONDO:0016244 atypical hemolytic-uremic syndrome skos:exactMatch Orphanet:2134 Atypical hemolytic uremic syndrome semapv:UnspecifiedMatching MONDO:0016244 atypical hemolytic-uremic syndrome skos:exactMatch UMLS:C2931788 semapv:UnspecifiedMatching MONDO:0016244 atypical hemolytic-uremic syndrome skos:exactMatch mesh:D065766 semapv:UnspecifiedMatching MONDO:0016248 familial ovarian cancer skos:exactMatch MEDGEN:1803368 semapv:UnspecifiedMatching MONDO:0016248 familial ovarian cancer skos:exactMatch UMLS:C5679802 semapv:UnspecifiedMatching MONDO:0016248 familial ovarian cancer skos:exactMatch icd11.foundation:1484739866 Familial ovarian cancer semapv:UnspecifiedMatching MONDO:0016249 hereditary site-specific ovarian cancer syndrome skos:exactMatch icd11.foundation:123305976 Hereditary site-specific ovarian cancer syndrome semapv:UnspecifiedMatching MONDO:0016250 obsolete rare adenocarcinoma of the breast skos:exactMatch Orphanet:213528 Rare adenocarcinoma of the breast semapv:UnspecifiedMatching MONDO:0016252 obsolete rare uterine cancer skos:exactMatch Orphanet:213564 Rare uterine cancer semapv:UnspecifiedMatching MONDO:0016253 obsolete rare cancer of corpus uteri skos:exactMatch Orphanet:213569 Rare cancer of corpus uteri semapv:UnspecifiedMatching MONDO:0016254 obsolete rare variants of adenocarcinoma of the corpus uteri skos:exactMatch Orphanet:213574 OBSOLETE: Rare variants of adenocarcinoma of the corpus uteri semapv:UnspecifiedMatching MONDO:0016255 uterine corpus mixed epithelial and mesenchymal neoplasm skos:exactMatch MEDGEN:311425 semapv:UnspecifiedMatching MONDO:0016255 uterine corpus mixed epithelial and mesenchymal neoplasm skos:exactMatch NCIT:C40181 Uterine Corpus Mixed Epithelial and Mesenchymal Neoplasm semapv:UnspecifiedMatching MONDO:0016255 uterine corpus mixed epithelial and mesenchymal neoplasm skos:exactMatch Orphanet:213589 Malignant mixed epithelial and mesenchymal tumor of corpus uteri semapv:UnspecifiedMatching MONDO:0016255 uterine corpus mixed epithelial and mesenchymal neoplasm skos:exactMatch UMLS:C1519858 semapv:UnspecifiedMatching MONDO:0016256 Hennekam syndrome skos:exactMatch DOID:0060366 Hennekam syndrome semapv:UnspecifiedMatching MONDO:0016256 Hennekam syndrome skos:exactMatch MEDGEN:137946 semapv:UnspecifiedMatching MONDO:0016256 Hennekam syndrome skos:exactMatch OMIMPS:235510 Hennekam lymphangiectasia-lymphedema syndrome semapv:UnspecifiedMatching MONDO:0016256 Hennekam syndrome skos:exactMatch Orphanet:2136 Hennekam syndrome semapv:UnspecifiedMatching MONDO:0016256 Hennekam syndrome skos:exactMatch SCTID:234146006 semapv:UnspecifiedMatching MONDO:0016256 Hennekam syndrome skos:exactMatch UMLS:C0340834 semapv:UnspecifiedMatching MONDO:0016256 Hennekam syndrome skos:exactMatch icd11.foundation:162216708 Hennekam lymphangiectasia-lymphoedema syndrome semapv:UnspecifiedMatching MONDO:0016258 uterine corpus carcinofibroma skos:exactMatch MEDGEN:364874 semapv:UnspecifiedMatching MONDO:0016258 uterine corpus carcinofibroma skos:exactMatch NCIT:C40182 Uterine Corpus Carcinofibroma semapv:UnspecifiedMatching MONDO:0016258 uterine corpus carcinofibroma skos:exactMatch Orphanet:213605 Carcinofibroma of the corpus uteri semapv:UnspecifiedMatching MONDO:0016258 uterine corpus carcinofibroma skos:exactMatch UMLS:C1883485 semapv:UnspecifiedMatching MONDO:0016259 carcinosarcoma of the corpus uteri skos:exactMatch MEDGEN:316458 semapv:UnspecifiedMatching MONDO:0016259 carcinosarcoma of the corpus uteri skos:exactMatch NCIT:C9180 Uterine Corpus Carcinosarcoma semapv:UnspecifiedMatching MONDO:0016259 carcinosarcoma of the corpus uteri skos:exactMatch Orphanet:213610 Carcinosarcoma of the corpus uteri semapv:UnspecifiedMatching MONDO:0016259 carcinosarcoma of the corpus uteri skos:exactMatch UMLS:C1704376 semapv:UnspecifiedMatching MONDO:0016260 uterine corpus rhabdomyosarcoma skos:exactMatch MEDGEN:925579 semapv:UnspecifiedMatching MONDO:0016260 uterine corpus rhabdomyosarcoma skos:exactMatch NCIT:C127058 Uterine Corpus Rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0016260 uterine corpus rhabdomyosarcoma skos:exactMatch Orphanet:213615 Rhabdomyosarcoma of the corpus uteri semapv:UnspecifiedMatching MONDO:0016260 uterine corpus rhabdomyosarcoma skos:exactMatch UMLS:C4288047 semapv:UnspecifiedMatching MONDO:0016262 leiomyosarcoma of the corpus uteri skos:exactMatch DOID:5289 uterus leiomyosarcoma semapv:UnspecifiedMatching MONDO:0016262 leiomyosarcoma of the corpus uteri skos:exactMatch EFO:1001974 semapv:UnspecifiedMatching MONDO:0016262 leiomyosarcoma of the corpus uteri skos:exactMatch MEDGEN:83679 semapv:UnspecifiedMatching MONDO:0016262 leiomyosarcoma of the corpus uteri skos:exactMatch NCIT:C6340 Uterine Corpus Leiomyosarcoma semapv:UnspecifiedMatching MONDO:0016262 leiomyosarcoma of the corpus uteri skos:exactMatch Orphanet:213625 Leiomyosarcoma of the corpus uteri semapv:UnspecifiedMatching MONDO:0016262 leiomyosarcoma of the corpus uteri skos:exactMatch SCTID:447389009 semapv:UnspecifiedMatching MONDO:0016262 leiomyosarcoma of the corpus uteri skos:exactMatch UMLS:C0280631 semapv:UnspecifiedMatching MONDO:0016263 primitive neuroectodermal tumor of the corpus uteri skos:exactMatch MEDGEN:1640822 semapv:UnspecifiedMatching MONDO:0016263 primitive neuroectodermal tumor of the corpus uteri skos:exactMatch Orphanet:213630 Primitive neuroectodermal tumor of the corpus uteri semapv:UnspecifiedMatching MONDO:0016263 primitive neuroectodermal tumor of the corpus uteri skos:exactMatch UMLS:C4707724 semapv:UnspecifiedMatching MONDO:0016264 autoimmune hepatitis skos:exactMatch DOID:2048 autoimmune hepatitis semapv:UnspecifiedMatching MONDO:0016264 autoimmune hepatitis skos:exactMatch EFO:0005676 semapv:UnspecifiedMatching MONDO:0016264 autoimmune hepatitis skos:exactMatch ICD10CM:K75.4 Autoimmune hepatitis semapv:UnspecifiedMatching MONDO:0016264 autoimmune hepatitis skos:exactMatch MEDGEN:1666753 semapv:UnspecifiedMatching MONDO:0016264 autoimmune hepatitis skos:exactMatch NCIT:C27029 Autoimmune Hepatitis semapv:UnspecifiedMatching MONDO:0016264 autoimmune hepatitis skos:exactMatch Orphanet:2137 Autoimmune hepatitis semapv:UnspecifiedMatching MONDO:0016264 autoimmune hepatitis skos:exactMatch SCTID:408335007 semapv:UnspecifiedMatching MONDO:0016264 autoimmune hepatitis skos:exactMatch UMLS:C4721555 semapv:UnspecifiedMatching MONDO:0016264 autoimmune hepatitis skos:exactMatch icd11.foundation:1235727122 Autoimmune hepatitis semapv:UnspecifiedMatching MONDO:0016264 autoimmune hepatitis skos:exactMatch mesh:D019693 semapv:UnspecifiedMatching MONDO:0016266 squamous cell carcinoma of the corpus uteri skos:exactMatch MEDGEN:1633992 semapv:UnspecifiedMatching MONDO:0016266 squamous cell carcinoma of the corpus uteri skos:exactMatch Orphanet:213716 Squamous cell carcinoma of the corpus uteri semapv:UnspecifiedMatching MONDO:0016266 squamous cell carcinoma of the corpus uteri skos:exactMatch UMLS:C4707099 semapv:UnspecifiedMatching MONDO:0016267 undifferentiated carcinoma of the corpus uteri skos:exactMatch MEDGEN:1638762 semapv:UnspecifiedMatching MONDO:0016267 undifferentiated carcinoma of the corpus uteri skos:exactMatch Orphanet:213721 Undifferentiated carcinoma of the corpus uteri semapv:UnspecifiedMatching MONDO:0016267 undifferentiated carcinoma of the corpus uteri skos:exactMatch UMLS:C4707822 semapv:UnspecifiedMatching MONDO:0016268 papillary carcinoma of the corpus uteri skos:exactMatch MEDGEN:1805139 semapv:UnspecifiedMatching MONDO:0016268 papillary carcinoma of the corpus uteri skos:exactMatch Orphanet:213726 Serous carcinoma of the corpus uteri semapv:UnspecifiedMatching MONDO:0016268 papillary carcinoma of the corpus uteri skos:exactMatch UMLS:C5679804 semapv:UnspecifiedMatching MONDO:0016269 high-grade neuroendocrine carcinoma of the corpus uteri skos:exactMatch MEDGEN:1664315 semapv:UnspecifiedMatching MONDO:0016269 high-grade neuroendocrine carcinoma of the corpus uteri skos:exactMatch Orphanet:213731 High-grade neuroendocrine carcinoma of the corpus uteri semapv:UnspecifiedMatching MONDO:0016269 high-grade neuroendocrine carcinoma of the corpus uteri skos:exactMatch UMLS:C4751234 semapv:UnspecifiedMatching MONDO:0016270 low-grade neuroendocrine tumor of the corpus uteri skos:exactMatch MEDGEN:1672976 semapv:UnspecifiedMatching MONDO:0016270 low-grade neuroendocrine tumor of the corpus uteri skos:exactMatch NCIT:C126773 Uterine Corpus Neuroendocrine Tumor G1 semapv:UnspecifiedMatching MONDO:0016270 low-grade neuroendocrine tumor of the corpus uteri skos:exactMatch Orphanet:213736 Low-grade neuroendocrine tumor of the corpus uteri semapv:UnspecifiedMatching MONDO:0016270 low-grade neuroendocrine tumor of the corpus uteri skos:exactMatch UMLS:C5190779 semapv:UnspecifiedMatching MONDO:0016271 adenoid cystic carcinoma of the corpus uteri skos:exactMatch icd11.foundation:350868040 Adenoid cystic carcinoma of the corpus uteri semapv:UnspecifiedMatching MONDO:0016272 transitional cell carcinoma of the corpus uteri skos:exactMatch MEDGEN:1676303 semapv:UnspecifiedMatching MONDO:0016272 transitional cell carcinoma of the corpus uteri skos:exactMatch Orphanet:213746 Transitional cell carcinoma of the corpus uteri semapv:UnspecifiedMatching MONDO:0016272 transitional cell carcinoma of the corpus uteri skos:exactMatch UMLS:C5191668 semapv:UnspecifiedMatching MONDO:0016273 malignant germ cell tumor of corpus uteri skos:exactMatch MEDGEN:1655229 semapv:UnspecifiedMatching MONDO:0016273 malignant germ cell tumor of corpus uteri skos:exactMatch Orphanet:213751 Malignant germ cell tumor of the corpus uteri semapv:UnspecifiedMatching MONDO:0016273 malignant germ cell tumor of corpus uteri skos:exactMatch UMLS:C4750753 semapv:UnspecifiedMatching MONDO:0016274 obsolete rare cancer of cervix uteri skos:exactMatch Orphanet:213761 Rare cancer of cervix uteri semapv:UnspecifiedMatching MONDO:0016276 high-grade neuroendocrine carcinoma of the cervix uteri skos:exactMatch MEDGEN:1668378 semapv:UnspecifiedMatching MONDO:0016276 high-grade neuroendocrine carcinoma of the cervix uteri skos:exactMatch NCIT:C128045 Cervical Neuroendocrine Carcinoma semapv:UnspecifiedMatching MONDO:0016276 high-grade neuroendocrine carcinoma of the cervix uteri skos:exactMatch Orphanet:213777 High-grade neuroendocrine carcinoma of the cervix uteri semapv:UnspecifiedMatching MONDO:0016276 high-grade neuroendocrine carcinoma of the cervix uteri skos:exactMatch UMLS:C4751235 semapv:UnspecifiedMatching MONDO:0016277 malignant mixed epithelial and mesenchymal tumor of cervix uteri skos:exactMatch MEDGEN:1843195 semapv:UnspecifiedMatching MONDO:0016277 malignant mixed epithelial and mesenchymal tumor of cervix uteri skos:exactMatch NCIT:C40228 Malignant Mixed Epithelial and Mesenchymal Neoplasm of the Cervix semapv:UnspecifiedMatching MONDO:0016277 malignant mixed epithelial and mesenchymal tumor of cervix uteri skos:exactMatch Orphanet:213782 Malignant mixed epithelial and mesenchymal tumor of cervix uteri semapv:UnspecifiedMatching MONDO:0016277 malignant mixed epithelial and mesenchymal tumor of cervix uteri skos:exactMatch UMLS:C5679806 semapv:UnspecifiedMatching MONDO:0016280 sarcoma of cervix uteri skos:exactMatch MEDGEN:1842604 semapv:UnspecifiedMatching MONDO:0016280 sarcoma of cervix uteri skos:exactMatch Orphanet:213797 Sarcoma of cervix uteri semapv:UnspecifiedMatching MONDO:0016280 sarcoma of cervix uteri skos:exactMatch UMLS:C5679807 semapv:UnspecifiedMatching MONDO:0016281 46,XX ovotesticular disorder of sex development skos:exactMatch MEDGEN:1814438 semapv:UnspecifiedMatching MONDO:0016281 46,XX ovotesticular disorder of sex development skos:exactMatch NCIT:C127167 Ovotesticular Differences of Sex Development semapv:UnspecifiedMatching MONDO:0016281 46,XX ovotesticular disorder of sex development skos:exactMatch Orphanet:2138 46,XX ovotesticular difference of sex development semapv:UnspecifiedMatching MONDO:0016281 46,XX ovotesticular disorder of sex development skos:exactMatch SCTID:18978002 semapv:UnspecifiedMatching MONDO:0016281 46,XX ovotesticular disorder of sex development skos:exactMatch UMLS:C5679613 semapv:UnspecifiedMatching MONDO:0016281 46,XX ovotesticular disorder of sex development skos:exactMatch mesh:D050090 semapv:UnspecifiedMatching MONDO:0016282 rhabdomyosarcoma of the cervix uteri skos:exactMatch MEDGEN:927341 semapv:UnspecifiedMatching MONDO:0016282 rhabdomyosarcoma of the cervix uteri skos:exactMatch NCIT:C128048 Cervical Rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0016282 rhabdomyosarcoma of the cervix uteri skos:exactMatch Orphanet:213802 Rhabdomyosarcoma of the cervix uteri semapv:UnspecifiedMatching MONDO:0016282 rhabdomyosarcoma of the cervix uteri skos:exactMatch SCTID:763408003 semapv:UnspecifiedMatching MONDO:0016282 rhabdomyosarcoma of the cervix uteri skos:exactMatch UMLS:C4289809 semapv:UnspecifiedMatching MONDO:0016283 leiomyosarcoma of the cervix uteri skos:exactMatch MEDGEN:927349 semapv:UnspecifiedMatching MONDO:0016283 leiomyosarcoma of the cervix uteri skos:exactMatch NCIT:C128047 Cervical Leiomyosarcoma semapv:UnspecifiedMatching MONDO:0016283 leiomyosarcoma of the cervix uteri skos:exactMatch Orphanet:213807 Leiomyosarcoma of the cervix uteri semapv:UnspecifiedMatching MONDO:0016283 leiomyosarcoma of the cervix uteri skos:exactMatch SCTID:763771009 semapv:UnspecifiedMatching MONDO:0016283 leiomyosarcoma of the cervix uteri skos:exactMatch UMLS:C4289817 semapv:UnspecifiedMatching MONDO:0016284 primitive neuroectodermal tumor of the cervix uteri skos:exactMatch MEDGEN:1636418 semapv:UnspecifiedMatching MONDO:0016284 primitive neuroectodermal tumor of the cervix uteri skos:exactMatch Orphanet:213812 Primitive neuroectodermal tumor of the cervix uteri semapv:UnspecifiedMatching MONDO:0016284 primitive neuroectodermal tumor of the cervix uteri skos:exactMatch UMLS:C4707725 semapv:UnspecifiedMatching MONDO:0016289 malignant germ cell tumor of cervix uteri skos:exactMatch MEDGEN:1662294 semapv:UnspecifiedMatching MONDO:0016289 malignant germ cell tumor of cervix uteri skos:exactMatch Orphanet:213837 Malignant germ cell tumor of the cervix uteri semapv:UnspecifiedMatching MONDO:0016289 malignant germ cell tumor of cervix uteri skos:exactMatch UMLS:C4750752 semapv:UnspecifiedMatching MONDO:0016290 Hernández-Aguirre Negrete syndrome skos:exactMatch MEDGEN:419481 semapv:UnspecifiedMatching MONDO:0016290 Hernández-Aguirre Negrete syndrome skos:exactMatch Orphanet:2139 Hernández-Aguirre Negrete syndrome semapv:UnspecifiedMatching MONDO:0016290 Hernández-Aguirre Negrete syndrome skos:exactMatch SCTID:721146009 semapv:UnspecifiedMatching MONDO:0016290 Hernández-Aguirre Negrete syndrome skos:exactMatch UMLS:C2931736 semapv:UnspecifiedMatching MONDO:0016290 Hernández-Aguirre Negrete syndrome skos:exactMatch mesh:C538112 semapv:UnspecifiedMatching MONDO:0016291 craniosynostosis, Herrmann-Opitz type skos:exactMatch MEDGEN:1633959 semapv:UnspecifiedMatching MONDO:0016291 craniosynostosis, Herrmann-Opitz type skos:exactMatch Orphanet:2145 Craniosynostosis, Herrmann-Opitz type semapv:UnspecifiedMatching MONDO:0016291 craniosynostosis, Herrmann-Opitz type skos:exactMatch UMLS:C4706536 semapv:UnspecifiedMatching MONDO:0016291 craniosynostosis, Herrmann-Opitz type skos:exactMatch icd11.foundation:2048918601 Craniosynostosis, Herrmann-Opitz type semapv:UnspecifiedMatching MONDO:0016292 nodular neuronal heterotopia skos:exactMatch MEDGEN:1842941 semapv:UnspecifiedMatching MONDO:0016292 nodular neuronal heterotopia skos:exactMatch Orphanet:2149 Nodular neuronal heterotopia semapv:UnspecifiedMatching MONDO:0016292 nodular neuronal heterotopia skos:exactMatch SCTID:253151003 semapv:UnspecifiedMatching MONDO:0016292 nodular neuronal heterotopia skos:exactMatch UMLS:C5680679 semapv:UnspecifiedMatching MONDO:0016292 nodular neuronal heterotopia skos:exactMatch icd11.foundation:143592859 Nodular neuronal heterotopia semapv:UnspecifiedMatching MONDO:0016293 congenital stationary night blindness skos:exactMatch DOID:0050534 congenital stationary night blindness semapv:UnspecifiedMatching MONDO:0016293 congenital stationary night blindness skos:exactMatch DOID:8498 hereditary night blindness semapv:UnspecifiedMatching MONDO:0016293 congenital stationary night blindness skos:exactMatch MEDGEN:83289 semapv:UnspecifiedMatching MONDO:0016293 congenital stationary night blindness skos:exactMatch OMIMPS:310500 Night blindness, congenital stationary semapv:UnspecifiedMatching MONDO:0016293 congenital stationary night blindness skos:exactMatch Orphanet:215 Congenital stationary night blindness semapv:UnspecifiedMatching MONDO:0016293 congenital stationary night blindness skos:exactMatch SCTID:193687000 semapv:UnspecifiedMatching MONDO:0016293 congenital stationary night blindness skos:exactMatch SCTID:232061009 semapv:UnspecifiedMatching MONDO:0016293 congenital stationary night blindness skos:exactMatch UMLS:C0339535 semapv:UnspecifiedMatching MONDO:0016293 congenital stationary night blindness skos:exactMatch icd11.foundation:122338861 Hereditary night blindness semapv:UnspecifiedMatching MONDO:0016293 congenital stationary night blindness skos:exactMatch icd11.foundation:587494652 Congenital stationary night blindness semapv:UnspecifiedMatching MONDO:0016293 congenital stationary night blindness skos:exactMatch mesh:C536122 semapv:UnspecifiedMatching MONDO:0016294 Hirschsprung disease-type D brachydactyly syndrome skos:exactMatch MEDGEN:375339 semapv:UnspecifiedMatching MONDO:0016294 Hirschsprung disease-type D brachydactyly syndrome skos:exactMatch OMIM:306980 hirschsprung disease with type d brachydactyly semapv:UnspecifiedMatching MONDO:0016294 Hirschsprung disease-type D brachydactyly syndrome skos:exactMatch Orphanet:2150 Hirschsprung disease-type D brachydactyly syndrome semapv:UnspecifiedMatching MONDO:0016294 Hirschsprung disease-type D brachydactyly syndrome skos:exactMatch UMLS:C1844017 semapv:UnspecifiedMatching MONDO:0016294 Hirschsprung disease-type D brachydactyly syndrome skos:exactMatch mesh:C538319 semapv:UnspecifiedMatching MONDO:0016295 neuronal ceroid lipofuscinosis skos:exactMatch DOID:14503 neuronal ceroid lipofuscinosis semapv:UnspecifiedMatching MONDO:0016295 neuronal ceroid lipofuscinosis skos:exactMatch ICD10CM:E75.4 Neuronal ceroid lipofuscinosis semapv:UnspecifiedMatching MONDO:0016295 neuronal ceroid lipofuscinosis skos:exactMatch MEDGEN:10326 semapv:UnspecifiedMatching MONDO:0016295 neuronal ceroid lipofuscinosis skos:exactMatch NCIT:C61257 Neuronal Ceroid Lipofuscinosis semapv:UnspecifiedMatching MONDO:0016295 neuronal ceroid lipofuscinosis skos:exactMatch OMIMPS:256730 Ceroid lipofuscinoses semapv:UnspecifiedMatching MONDO:0016295 neuronal ceroid lipofuscinosis skos:exactMatch Orphanet:216 Neuronal ceroid lipofuscinosis semapv:UnspecifiedMatching MONDO:0016295 neuronal ceroid lipofuscinosis skos:exactMatch SCTID:42012007 semapv:UnspecifiedMatching MONDO:0016295 neuronal ceroid lipofuscinosis skos:exactMatch UMLS:C0027877 semapv:UnspecifiedMatching MONDO:0016295 neuronal ceroid lipofuscinosis skos:exactMatch icd11.foundation:1568332253 Neuronal ceroid lipofuscinosis semapv:UnspecifiedMatching MONDO:0016296 holoprosencephaly skos:exactMatch DOID:4621 holoprosencephaly semapv:UnspecifiedMatching MONDO:0016296 holoprosencephaly skos:exactMatch ICD10CM:Q04.2 Holoprosencephaly semapv:UnspecifiedMatching MONDO:0016296 holoprosencephaly skos:exactMatch MEDGEN:38214 semapv:UnspecifiedMatching MONDO:0016296 holoprosencephaly skos:exactMatch NCIT:C74988 Holoprosencephaly semapv:UnspecifiedMatching MONDO:0016296 holoprosencephaly skos:exactMatch OMIMPS:236100 Holoprosencephaly semapv:UnspecifiedMatching MONDO:0016296 holoprosencephaly skos:exactMatch Orphanet:2162 Holoprosencephaly semapv:UnspecifiedMatching MONDO:0016296 holoprosencephaly skos:exactMatch SCTID:30915001 semapv:UnspecifiedMatching MONDO:0016296 holoprosencephaly skos:exactMatch UMLS:C0079541 semapv:UnspecifiedMatching MONDO:0016296 holoprosencephaly skos:exactMatch icd11.foundation:1712699129 Holoprosencephaly semapv:UnspecifiedMatching MONDO:0016296 holoprosencephaly skos:exactMatch mesh:D016142 semapv:UnspecifiedMatching MONDO:0016297 prelingual non-syndromic genetic hearing loss skos:exactMatch MEDGEN:1647959 semapv:UnspecifiedMatching MONDO:0016297 prelingual non-syndromic genetic hearing loss skos:exactMatch SCTID:764098007 semapv:UnspecifiedMatching MONDO:0016297 prelingual non-syndromic genetic hearing loss skos:exactMatch UMLS:C4706679 semapv:UnspecifiedMatching MONDO:0016298 postlingual non-syndromic genetic hearing loss skos:exactMatch MEDGEN:1641874 semapv:UnspecifiedMatching MONDO:0016298 postlingual non-syndromic genetic hearing loss skos:exactMatch SCTID:764097002 semapv:UnspecifiedMatching MONDO:0016298 postlingual non-syndromic genetic hearing loss skos:exactMatch UMLS:C4706678 semapv:UnspecifiedMatching MONDO:0016299 holoprosencephaly-caudal dysgenesis syndrome skos:exactMatch MEDGEN:1653112 semapv:UnspecifiedMatching MONDO:0016299 holoprosencephaly-caudal dysgenesis syndrome skos:exactMatch Orphanet:2165 Holoprosencephaly-caudal dysgenesis syndrome semapv:UnspecifiedMatching MONDO:0016299 holoprosencephaly-caudal dysgenesis syndrome skos:exactMatch UMLS:C4749731 semapv:UnspecifiedMatching MONDO:0016301 congenitally corrected transposition of the great arteries skos:exactMatch MEDGEN:87489 semapv:UnspecifiedMatching MONDO:0016301 congenitally corrected transposition of the great arteries skos:exactMatch NCIT:C98902 Levo-Transposition of the Great Arteries semapv:UnspecifiedMatching MONDO:0016301 congenitally corrected transposition of the great arteries skos:exactMatch Orphanet:216694 Congenitally corrected transposition of the great arteries semapv:UnspecifiedMatching MONDO:0016301 congenitally corrected transposition of the great arteries skos:exactMatch SCTID:83799000 semapv:UnspecifiedMatching MONDO:0016301 congenitally corrected transposition of the great arteries skos:exactMatch UMLS:C0344616 semapv:UnspecifiedMatching MONDO:0016301 congenitally corrected transposition of the great arteries skos:exactMatch icd11.foundation:254915185 Congenitally corrected transposition of great arteries semapv:UnspecifiedMatching MONDO:0016301 congenitally corrected transposition of the great arteries skos:exactMatch mesh:D000080041 semapv:UnspecifiedMatching MONDO:0016302 isolated congenitally uncorrected transposition of the great arteries skos:exactMatch MEDGEN:1842921 semapv:UnspecifiedMatching MONDO:0016302 isolated congenitally uncorrected transposition of the great arteries skos:exactMatch Orphanet:216718 Isolated congenitally uncorrected transposition of the great arteries semapv:UnspecifiedMatching MONDO:0016302 isolated congenitally uncorrected transposition of the great arteries skos:exactMatch UMLS:C5679810 semapv:UnspecifiedMatching MONDO:0016303 congenitally uncorrected transposition of the great arteries with cardiac malformation skos:exactMatch MEDGEN:1843053 semapv:UnspecifiedMatching MONDO:0016303 congenitally uncorrected transposition of the great arteries with cardiac malformation skos:exactMatch Orphanet:216729 Congenitally uncorrected transposition of the great arteries with cardiac malformation semapv:UnspecifiedMatching MONDO:0016303 congenitally uncorrected transposition of the great arteries with cardiac malformation skos:exactMatch UMLS:C5679811 semapv:UnspecifiedMatching MONDO:0016304 classic pantothenate kinase-associated neurodegeneration skos:exactMatch MEDGEN:1826057 semapv:UnspecifiedMatching MONDO:0016304 classic pantothenate kinase-associated neurodegeneration skos:exactMatch Orphanet:216866 Classic pantothenate kinase-associated neurodegeneration semapv:UnspecifiedMatching MONDO:0016304 classic pantothenate kinase-associated neurodegeneration skos:exactMatch UMLS:C5679812 semapv:UnspecifiedMatching MONDO:0016305 atypical pantothenate kinase-associated neurodegeneration skos:exactMatch MEDGEN:1800044 semapv:UnspecifiedMatching MONDO:0016305 atypical pantothenate kinase-associated neurodegeneration skos:exactMatch Orphanet:216873 Atypical pantothenate kinase-associated neurodegeneration semapv:UnspecifiedMatching MONDO:0016305 atypical pantothenate kinase-associated neurodegeneration skos:exactMatch UMLS:C5568621 semapv:UnspecifiedMatching MONDO:0016306 Niemann-Pick disease type C, severe perinatal form skos:exactMatch MEDGEN:1842349 semapv:UnspecifiedMatching MONDO:0016306 Niemann-Pick disease type C, severe perinatal form skos:exactMatch Orphanet:216972 Niemann-Pick disease type C, severe perinatal form semapv:UnspecifiedMatching MONDO:0016306 Niemann-Pick disease type C, severe perinatal form skos:exactMatch UMLS:C5680866 semapv:UnspecifiedMatching MONDO:0016307 Niemann-Pick disease type C, severe early infantile neurologic onset skos:exactMatch MEDGEN:1842400 semapv:UnspecifiedMatching MONDO:0016307 Niemann-Pick disease type C, severe early infantile neurologic onset skos:exactMatch Orphanet:216975 Niemann-Pick disease type C, severe early infantile neurologic onset semapv:UnspecifiedMatching MONDO:0016307 Niemann-Pick disease type C, severe early infantile neurologic onset skos:exactMatch UMLS:C5680868 semapv:UnspecifiedMatching MONDO:0016307 Niemann-Pick disease type C, severe early infantile neurologic onset skos:exactMatch icd11.foundation:587642791 Niemann-Pick disease type C, severe early infantile neurologic onset semapv:UnspecifiedMatching MONDO:0016308 Niemann-Pick disease type C, late infantile neurologic onset skos:exactMatch MEDGEN:1843353 semapv:UnspecifiedMatching MONDO:0016308 Niemann-Pick disease type C, late infantile neurologic onset skos:exactMatch Orphanet:216978 Niemann-Pick disease type C, late infantile neurologic onset semapv:UnspecifiedMatching MONDO:0016308 Niemann-Pick disease type C, late infantile neurologic onset skos:exactMatch UMLS:C5680867 semapv:UnspecifiedMatching MONDO:0016308 Niemann-Pick disease type C, late infantile neurologic onset skos:exactMatch icd11.foundation:2075382821 Niemann-Pick disease type C, late infantile neurologic onset semapv:UnspecifiedMatching MONDO:0016309 Niemann-Pick disease type C, juvenile neurologic onset skos:exactMatch MEDGEN:1842257 semapv:UnspecifiedMatching MONDO:0016309 Niemann-Pick disease type C, juvenile neurologic onset skos:exactMatch Orphanet:216981 Niemann-Pick disease type C, juvenile neurologic onset semapv:UnspecifiedMatching MONDO:0016309 Niemann-Pick disease type C, juvenile neurologic onset skos:exactMatch UMLS:C5679813 semapv:UnspecifiedMatching MONDO:0016309 Niemann-Pick disease type C, juvenile neurologic onset skos:exactMatch icd11.foundation:2006062681 Niemann-Pick disease type C, juvenile neurologic onset semapv:UnspecifiedMatching MONDO:0016310 Niemann-Pick disease type C, adult neurologic onset skos:exactMatch MEDGEN:1826101 semapv:UnspecifiedMatching MONDO:0016310 Niemann-Pick disease type C, adult neurologic onset skos:exactMatch Orphanet:216986 Niemann-Pick disease type C, adult neurologic onset semapv:UnspecifiedMatching MONDO:0016310 Niemann-Pick disease type C, adult neurologic onset skos:exactMatch UMLS:C5680869 semapv:UnspecifiedMatching MONDO:0016310 Niemann-Pick disease type C, adult neurologic onset skos:exactMatch icd11.foundation:77127214 Niemann-Pick disease type C, adult neurologic onset semapv:UnspecifiedMatching MONDO:0016311 Bockenheimer syndrome skos:exactMatch MEDGEN:1843091 semapv:UnspecifiedMatching MONDO:0016311 Bockenheimer syndrome skos:exactMatch Orphanet:217008 Bockenheimer syndrome semapv:UnspecifiedMatching MONDO:0016311 Bockenheimer syndrome skos:exactMatch UMLS:C5679814 semapv:UnspecifiedMatching MONDO:0016311 Bockenheimer syndrome skos:exactMatch icd11.foundation:1659229633 Bockenheimer syndrome semapv:UnspecifiedMatching MONDO:0016312 5-fluorouracil poisoning skos:exactMatch Orphanet:217064 5-fluorouracil poisoning semapv:UnspecifiedMatching MONDO:0016312 5-fluorouracil poisoning skos:exactMatch mesh:C531667 semapv:UnspecifiedMatching MONDO:0016314 obsolete rare carcinoma of pancreas skos:exactMatch Orphanet:217074 Rare carcinoma of pancreas semapv:UnspecifiedMatching MONDO:0016315 mucopolysaccharidosis type 2, severe form skos:exactMatch MEDGEN:575246 semapv:UnspecifiedMatching MONDO:0016315 mucopolysaccharidosis type 2, severe form skos:exactMatch Orphanet:217085 Mucopolysaccharidosis type 2, severe form semapv:UnspecifiedMatching MONDO:0016315 mucopolysaccharidosis type 2, severe form skos:exactMatch SCTID:73146005 semapv:UnspecifiedMatching MONDO:0016315 mucopolysaccharidosis type 2, severe form skos:exactMatch UMLS:C0342841 semapv:UnspecifiedMatching MONDO:0016316 mucopolysaccharidosis type 2, attenuated form skos:exactMatch MEDGEN:1826165 semapv:UnspecifiedMatching MONDO:0016316 mucopolysaccharidosis type 2, attenuated form skos:exactMatch Orphanet:217093 Mucopolysaccharidosis type 2, attenuated form semapv:UnspecifiedMatching MONDO:0016316 mucopolysaccharidosis type 2, attenuated form skos:exactMatch SCTID:5667009 semapv:UnspecifiedMatching MONDO:0016316 mucopolysaccharidosis type 2, attenuated form skos:exactMatch UMLS:C5679815 semapv:UnspecifiedMatching MONDO:0016318 progressive multifocal leukoencephalopathy skos:exactMatch DOID:643 progressive multifocal leukoencephalopathy semapv:UnspecifiedMatching MONDO:0016318 progressive multifocal leukoencephalopathy skos:exactMatch EFO:0007455 semapv:UnspecifiedMatching MONDO:0016318 progressive multifocal leukoencephalopathy skos:exactMatch ICD10CM:A81.2 Progressive multifocal leukoencephalopathy semapv:UnspecifiedMatching MONDO:0016318 progressive multifocal leukoencephalopathy skos:exactMatch MEDGEN:7327 semapv:UnspecifiedMatching MONDO:0016318 progressive multifocal leukoencephalopathy skos:exactMatch NCIT:C26815 Progressive Multifocal Leukoencephalopathy semapv:UnspecifiedMatching MONDO:0016318 progressive multifocal leukoencephalopathy skos:exactMatch Orphanet:217260 Progressive multifocal leukoencephalopathy semapv:UnspecifiedMatching MONDO:0016318 progressive multifocal leukoencephalopathy skos:exactMatch SCTID:22255007 semapv:UnspecifiedMatching MONDO:0016318 progressive multifocal leukoencephalopathy skos:exactMatch UMLS:C0023524 semapv:UnspecifiedMatching MONDO:0016318 progressive multifocal leukoencephalopathy skos:exactMatch icd11.foundation:902939755 Progressive multifocal leukoencephalopathy semapv:UnspecifiedMatching MONDO:0016318 progressive multifocal leukoencephalopathy skos:exactMatch mesh:D007968 semapv:UnspecifiedMatching MONDO:0016319 congenital insensitivity to pain with hyperhidrosis skos:exactMatch MEDGEN:1830087 semapv:UnspecifiedMatching MONDO:0016319 congenital insensitivity to pain with hyperhidrosis skos:exactMatch Orphanet:217399 Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation semapv:UnspecifiedMatching MONDO:0016319 congenital insensitivity to pain with hyperhidrosis skos:exactMatch UMLS:C5679817 semapv:UnspecifiedMatching MONDO:0016320 obsolete rare hereditary thrombophilia skos:exactMatch Orphanet:217454 Rare hereditary thrombophilia semapv:UnspecifiedMatching MONDO:0016321 pulmonary interstitial glycogenosis skos:exactMatch ICD10CM:J84.842 Pulmonary interstitial glycogenosis semapv:UnspecifiedMatching MONDO:0016321 pulmonary interstitial glycogenosis skos:exactMatch MEDGEN:838075 semapv:UnspecifiedMatching MONDO:0016321 pulmonary interstitial glycogenosis skos:exactMatch Orphanet:217557 Pulmonary interstitial glycogenosis semapv:UnspecifiedMatching MONDO:0016321 pulmonary interstitial glycogenosis skos:exactMatch SCTID:707551007 semapv:UnspecifiedMatching MONDO:0016321 pulmonary interstitial glycogenosis skos:exactMatch UMLS:C3161106 semapv:UnspecifiedMatching MONDO:0016321 pulmonary interstitial glycogenosis skos:exactMatch icd11.foundation:1386580655 Pulmonary interstitial glycogenosis semapv:UnspecifiedMatching MONDO:0016322 neuroendocrine cell hyperplasia of infancy skos:exactMatch ICD10CM:J84.841 Neuroendocrine cell hyperplasia of infancy semapv:UnspecifiedMatching MONDO:0016322 neuroendocrine cell hyperplasia of infancy skos:exactMatch MEDGEN:837309 semapv:UnspecifiedMatching MONDO:0016322 neuroendocrine cell hyperplasia of infancy skos:exactMatch NCIT:C120169 Neuroendocrine Cell Hyperplasia of Infancy semapv:UnspecifiedMatching MONDO:0016322 neuroendocrine cell hyperplasia of infancy skos:exactMatch Orphanet:217560 Neuroendocrine cell hyperplasia of infancy semapv:UnspecifiedMatching MONDO:0016322 neuroendocrine cell hyperplasia of infancy skos:exactMatch SCTID:707435002 semapv:UnspecifiedMatching MONDO:0016322 neuroendocrine cell hyperplasia of infancy skos:exactMatch UMLS:C3161105 semapv:UnspecifiedMatching MONDO:0016322 neuroendocrine cell hyperplasia of infancy skos:exactMatch icd11.foundation:1641999159 Neuroendocrine cell hyperplasia of infancy semapv:UnspecifiedMatching MONDO:0016323 chronic respiratory distress with surfactant metabolism deficiency skos:exactMatch MEDGEN:1679491 semapv:UnspecifiedMatching MONDO:0016323 chronic respiratory distress with surfactant metabolism deficiency skos:exactMatch Orphanet:217566 Chronic respiratory distress with surfactant metabolism deficiency semapv:UnspecifiedMatching MONDO:0016323 chronic respiratory distress with surfactant metabolism deficiency skos:exactMatch UMLS:C5190853 semapv:UnspecifiedMatching MONDO:0016325 obsolete glycogen storage disease with hypertrophic cardiomyopathy skos:exactMatch Orphanet:217572 Glycogen storage disease with hypertrophic cardiomyopathy semapv:UnspecifiedMatching MONDO:0016326 obsolete lysosomal disease with hypertrophic cardiomyopathy skos:exactMatch Orphanet:217581 Lysosomal disease with hypertrophic cardiomyopathy semapv:UnspecifiedMatching MONDO:0016327 obsolete mitochondrial disease with hypertrophic cardiomyopathy skos:exactMatch Orphanet:217587 Mitochondrial disease with hypertrophic cardiomyopathy semapv:UnspecifiedMatching MONDO:0016328 obsolete fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy skos:exactMatch Orphanet:217591 Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy semapv:UnspecifiedMatching MONDO:0016330 non-familial hypertrophic cardiomyopathy skos:exactMatch MEDGEN:1843178 semapv:UnspecifiedMatching MONDO:0016330 non-familial hypertrophic cardiomyopathy skos:exactMatch Orphanet:217598 Non-familial hypertrophic cardiomyopathy semapv:UnspecifiedMatching MONDO:0016330 non-familial hypertrophic cardiomyopathy skos:exactMatch UMLS:C5680883 semapv:UnspecifiedMatching MONDO:0016331 infantile systemic hyalinosis skos:exactMatch MEDGEN:1803732 semapv:UnspecifiedMatching MONDO:0016331 infantile systemic hyalinosis skos:exactMatch Orphanet:2176 Infantile systemic hyalinosis semapv:UnspecifiedMatching MONDO:0016331 infantile systemic hyalinosis skos:exactMatch SCTID:238867003 semapv:UnspecifiedMatching MONDO:0016331 infantile systemic hyalinosis skos:exactMatch UMLS:C5574678 semapv:UnspecifiedMatching MONDO:0016331 infantile systemic hyalinosis skos:exactMatch icd11.foundation:2089325724 Infantile systemic hyalinosis semapv:UnspecifiedMatching MONDO:0016332 hypertrophic cardiomyopathy due to intensive athletic training skos:exactMatch icd11.foundation:183927358 Hypertrophic cardiomyopathy due to intensive athletic training semapv:UnspecifiedMatching MONDO:0016333 familial dilated cardiomyopathy skos:exactMatch MEDGEN:90951 semapv:UnspecifiedMatching MONDO:0016333 familial dilated cardiomyopathy skos:exactMatch OMIMPS:115200 Dilated cardiomyopathy semapv:UnspecifiedMatching MONDO:0016333 familial dilated cardiomyopathy skos:exactMatch Orphanet:217607 Familial dilated cardiomyopathy semapv:UnspecifiedMatching MONDO:0016333 familial dilated cardiomyopathy skos:exactMatch UMLS:C0340427 semapv:UnspecifiedMatching MONDO:0016333 familial dilated cardiomyopathy skos:exactMatch icd11.foundation:423719003 Familial-genetic dilated cardiomyopathy semapv:UnspecifiedMatching MONDO:0016333 familial dilated cardiomyopathy skos:exactMatch mesh:C536231 semapv:UnspecifiedMatching MONDO:0016334 obsolete neuromuscular disease with dilated cardiomyopathy skos:exactMatch Orphanet:217610 Neuromuscular disease with dilated cardiomyopathy semapv:UnspecifiedMatching MONDO:0016335 obsolete mitochondrial disease with dilated cardiomyopathy skos:exactMatch Orphanet:217613 Mitochondrial disease with dilated cardiomyopathy semapv:UnspecifiedMatching MONDO:0016336 obsolete fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy skos:exactMatch Orphanet:217616 Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy semapv:UnspecifiedMatching MONDO:0016337 obsolete syndrome associated with dilated cardiomyopathy skos:exactMatch Orphanet:217619 Syndrome associated with dilated cardiomyopathy semapv:UnspecifiedMatching MONDO:0016338 non-familial dilated cardiomyopathy skos:exactMatch MEDGEN:1843057 semapv:UnspecifiedMatching MONDO:0016338 non-familial dilated cardiomyopathy skos:exactMatch Orphanet:217629 Non-familial dilated cardiomyopathy semapv:UnspecifiedMatching MONDO:0016338 non-familial dilated cardiomyopathy skos:exactMatch UMLS:C5681849 semapv:UnspecifiedMatching MONDO:0016338 non-familial dilated cardiomyopathy skos:exactMatch icd11.foundation:1782708952 Nonfamilial dilated cardiomyopathy semapv:UnspecifiedMatching MONDO:0016340 familial restrictive cardiomyopathy skos:exactMatch MEDGEN:468561 semapv:UnspecifiedMatching MONDO:0016340 familial restrictive cardiomyopathy skos:exactMatch OMIMPS:115210 Familial restrictive cardiomyopathy semapv:UnspecifiedMatching MONDO:0016340 familial restrictive cardiomyopathy skos:exactMatch Orphanet:217635 Familial restrictive cardiomyopathy semapv:UnspecifiedMatching MONDO:0016340 familial restrictive cardiomyopathy skos:exactMatch SCTID:233878008 semapv:UnspecifiedMatching MONDO:0016340 familial restrictive cardiomyopathy skos:exactMatch UMLS:C0340429 semapv:UnspecifiedMatching MONDO:0016341 obsolete lysosomal disease with restrictive cardiomyopathy skos:exactMatch Orphanet:217638 Lysosomal disease with restrictive cardiomyopathy semapv:UnspecifiedMatching MONDO:0016342 familial isolated arrhythmogenic right ventricular dysplasia skos:exactMatch MEDGEN:901869 semapv:UnspecifiedMatching MONDO:0016342 familial isolated arrhythmogenic right ventricular dysplasia skos:exactMatch OMIMPS:107970 Arrhythmogenic right ventricular dysplasia semapv:UnspecifiedMatching MONDO:0016342 familial isolated arrhythmogenic right ventricular dysplasia skos:exactMatch Orphanet:217656 Inherited isolated arrhythmogenic cardiomyopathy semapv:UnspecifiedMatching MONDO:0016342 familial isolated arrhythmogenic right ventricular dysplasia skos:exactMatch SCTID:715865008 semapv:UnspecifiedMatching MONDO:0016342 familial isolated arrhythmogenic right ventricular dysplasia skos:exactMatch UMLS:C4274968 semapv:UnspecifiedMatching MONDO:0016342 familial isolated arrhythmogenic right ventricular dysplasia skos:exactMatch icd11.foundation:460188584 Familial isolated arrhythmogenic right ventricular dysplasia semapv:UnspecifiedMatching MONDO:0016343 obsolete unclassified cardiomyopathy skos:exactMatch Orphanet:217678 Unclassified cardiomyopathy semapv:UnspecifiedMatching MONDO:0016344 hydranencephaly skos:exactMatch DOID:4626 hydranencephaly semapv:UnspecifiedMatching MONDO:0016344 hydranencephaly skos:exactMatch MEDGEN:6937 semapv:UnspecifiedMatching MONDO:0016344 hydranencephaly skos:exactMatch NCIT:C98949 Hydranencephaly semapv:UnspecifiedMatching MONDO:0016344 hydranencephaly skos:exactMatch Orphanet:2177 Hydranencephaly semapv:UnspecifiedMatching MONDO:0016344 hydranencephaly skos:exactMatch SCTID:30023002 semapv:UnspecifiedMatching MONDO:0016344 hydranencephaly skos:exactMatch UMLS:C0020225 semapv:UnspecifiedMatching MONDO:0016344 hydranencephaly skos:exactMatch icd11.foundation:1963574608 Hydranencephaly semapv:UnspecifiedMatching MONDO:0016344 hydranencephaly skos:exactMatch mesh:D006832 semapv:UnspecifiedMatching MONDO:0016345 non-familial restrictive cardiomyopathy skos:exactMatch MEDGEN:1843079 semapv:UnspecifiedMatching MONDO:0016345 non-familial restrictive cardiomyopathy skos:exactMatch Orphanet:217720 Non-familial restrictive cardiomyopathy semapv:UnspecifiedMatching MONDO:0016345 non-familial restrictive cardiomyopathy skos:exactMatch UMLS:C5680885 semapv:UnspecifiedMatching MONDO:0016345 non-familial restrictive cardiomyopathy skos:exactMatch icd11.foundation:2097520643 Nonfamilial restrictive cardiomyopathy semapv:UnspecifiedMatching MONDO:0016346 hydrocephalus-obesity-hypogonadism syndrome skos:exactMatch MEDGEN:929145 semapv:UnspecifiedMatching MONDO:0016346 hydrocephalus-obesity-hypogonadism syndrome skos:exactMatch Orphanet:2183 Hydrocephalus-obesity-hypogonadism syndrome semapv:UnspecifiedMatching MONDO:0016346 hydrocephalus-obesity-hypogonadism syndrome skos:exactMatch SCTID:721231007 semapv:UnspecifiedMatching MONDO:0016346 hydrocephalus-obesity-hypogonadism syndrome skos:exactMatch UMLS:C4303476 semapv:UnspecifiedMatching MONDO:0016347 obsolete rare cardiac rhythm disease skos:exactMatch Orphanet:218436 Rare cardiac rhythm disease semapv:UnspecifiedMatching MONDO:0016348 obsolete non-genetic cardiac rhythm disease skos:exactMatch Orphanet:218439 Non-genetic cardiac rhythm disease semapv:UnspecifiedMatching MONDO:0016349 congenital hydrocephalus skos:exactMatch ICD10CM:Q03 Congenital hydrocephalus semapv:UnspecifiedMatching MONDO:0016349 congenital hydrocephalus skos:exactMatch ICD10WHO:Q03 Congenital hydrocephalus semapv:UnspecifiedMatching MONDO:0016349 congenital hydrocephalus skos:exactMatch MEDGEN:9336 semapv:UnspecifiedMatching MONDO:0016349 congenital hydrocephalus skos:exactMatch NCIT:C98876 Congenital Hydrocephalus semapv:UnspecifiedMatching MONDO:0016349 congenital hydrocephalus skos:exactMatch OMIMPS:236600 Hydrocephalus, congenital semapv:UnspecifiedMatching MONDO:0016349 congenital hydrocephalus skos:exactMatch Orphanet:2185 Congenital hydrocephalus semapv:UnspecifiedMatching MONDO:0016349 congenital hydrocephalus skos:exactMatch SCTID:47032000 semapv:UnspecifiedMatching MONDO:0016349 congenital hydrocephalus skos:exactMatch UMLS:C0020256 semapv:UnspecifiedMatching MONDO:0016349 congenital hydrocephalus skos:exactMatch icd11.foundation:1878746673 Congenital hydrocephalus semapv:UnspecifiedMatching MONDO:0016350 hydrocephalus-blue sclerae-nephropathy syndrome skos:exactMatch MEDGEN:418960 semapv:UnspecifiedMatching MONDO:0016350 hydrocephalus-blue sclerae-nephropathy syndrome skos:exactMatch Orphanet:2186 Hydrocephalus-blue sclerae-nephropathy syndrome semapv:UnspecifiedMatching MONDO:0016350 hydrocephalus-blue sclerae-nephropathy syndrome skos:exactMatch UMLS:C2931014 semapv:UnspecifiedMatching MONDO:0016350 hydrocephalus-blue sclerae-nephropathy syndrome skos:exactMatch mesh:C535768 semapv:UnspecifiedMatching MONDO:0016351 anti-HLA hyperimmunization skos:exactMatch MEDGEN:929703 semapv:UnspecifiedMatching MONDO:0016351 anti-HLA hyperimmunization skos:exactMatch UMLS:C4304034 semapv:UnspecifiedMatching MONDO:0016353 palmoplantar keratoderma-spastic paralysis syndrome skos:exactMatch MEDGEN:444152 semapv:UnspecifiedMatching MONDO:0016353 palmoplantar keratoderma-spastic paralysis syndrome skos:exactMatch Orphanet:2201 Palmoplantar keratoderma-spastic paralysis syndrome semapv:UnspecifiedMatching MONDO:0016353 palmoplantar keratoderma-spastic paralysis syndrome skos:exactMatch UMLS:C2931828 semapv:UnspecifiedMatching MONDO:0016353 palmoplantar keratoderma-spastic paralysis syndrome skos:exactMatch mesh:C538358 semapv:UnspecifiedMatching MONDO:0016354 xeroderma pigmentosum-Cockayne syndrome complex skos:exactMatch MEDGEN:930080 semapv:UnspecifiedMatching MONDO:0016354 xeroderma pigmentosum-Cockayne syndrome complex skos:exactMatch NCIT:C156031 Xeroderma Pigmentosum-Cockayne Syndrome Complex semapv:UnspecifiedMatching MONDO:0016354 xeroderma pigmentosum-Cockayne syndrome complex skos:exactMatch Orphanet:220295 Xeroderma pigmentosum-Cockayne syndrome complex semapv:UnspecifiedMatching MONDO:0016354 xeroderma pigmentosum-Cockayne syndrome complex skos:exactMatch UMLS:C4304411 semapv:UnspecifiedMatching MONDO:0016354 xeroderma pigmentosum-Cockayne syndrome complex skos:exactMatch icd11.foundation:2002862606 Xeroderma pigmentosum-Cockayne syndrome complex semapv:UnspecifiedMatching MONDO:0016356 diffuse cutaneous systemic sclerosis skos:exactMatch NCIT:C116791 Diffuse Cutaneous Systemic Sclerosis semapv:UnspecifiedMatching MONDO:0016356 diffuse cutaneous systemic sclerosis skos:exactMatch Orphanet:220393 Diffuse cutaneous systemic sclerosis semapv:UnspecifiedMatching MONDO:0016357 dysplastic cortical hyperostosis skos:exactMatch MEDGEN:1683894 semapv:UnspecifiedMatching MONDO:0016357 dysplastic cortical hyperostosis skos:exactMatch Orphanet:646139 Dysplastic cortical hyperostosis semapv:UnspecifiedMatching MONDO:0016357 dysplastic cortical hyperostosis skos:exactMatch UMLS:C5190839 semapv:UnspecifiedMatching MONDO:0016357 dysplastic cortical hyperostosis skos:exactMatch icd11.foundation:607086753 Dysplastic cortical hyperostosis semapv:UnspecifiedMatching MONDO:0016358 limited cutaneous systemic sclerosis skos:exactMatch DOID:1577 limited scleroderma semapv:UnspecifiedMatching MONDO:0016358 limited cutaneous systemic sclerosis skos:exactMatch MEDGEN:148187 semapv:UnspecifiedMatching MONDO:0016358 limited cutaneous systemic sclerosis skos:exactMatch Orphanet:220402 Limited cutaneous systemic sclerosis semapv:UnspecifiedMatching MONDO:0016358 limited cutaneous systemic sclerosis skos:exactMatch SCTID:298285004 semapv:UnspecifiedMatching MONDO:0016358 limited cutaneous systemic sclerosis skos:exactMatch SCTID:299276009 semapv:UnspecifiedMatching MONDO:0016358 limited cutaneous systemic sclerosis skos:exactMatch UMLS:C0748540 semapv:UnspecifiedMatching MONDO:0016358 limited cutaneous systemic sclerosis skos:exactMatch mesh:D045745 semapv:UnspecifiedMatching MONDO:0016359 limited systemic sclerosis skos:exactMatch MEDGEN:220934 semapv:UnspecifiedMatching MONDO:0016359 limited systemic sclerosis skos:exactMatch NCIT:C116789 Systemic Sclerosis without Skin Involvement semapv:UnspecifiedMatching MONDO:0016359 limited systemic sclerosis skos:exactMatch Orphanet:220407 Limited systemic sclerosis semapv:UnspecifiedMatching MONDO:0016359 limited systemic sclerosis skos:exactMatch SCTID:128461001 semapv:UnspecifiedMatching MONDO:0016359 limited systemic sclerosis skos:exactMatch UMLS:C1290138 semapv:UnspecifiedMatching MONDO:0016359 limited systemic sclerosis skos:exactMatch icd11.foundation:187455179 Limited systemic sclerosis semapv:UnspecifiedMatching MONDO:0016360 marcothrombocytopenia with mitral valve insufficiency skos:exactMatch MEDGEN:1649052 semapv:UnspecifiedMatching MONDO:0016360 marcothrombocytopenia with mitral valve insufficiency skos:exactMatch Orphanet:220448 Macrothrombocytopenia with mitral valve insufficiency semapv:UnspecifiedMatching MONDO:0016360 marcothrombocytopenia with mitral valve insufficiency skos:exactMatch UMLS:C4749648 semapv:UnspecifiedMatching MONDO:0016361 obsolete isolated hereditary giant platelet disorder skos:exactMatch Orphanet:220452 Isolated hereditary giant platelet disorder semapv:UnspecifiedMatching MONDO:0016361 obsolete isolated hereditary giant platelet disorder skos:exactMatch icd11.foundation:2069754587 Inherited giant platelet disorder semapv:UnspecifiedMatching MONDO:0016362 attenuated familial adenomatous polyposis skos:exactMatch MEDGEN:436213 semapv:UnspecifiedMatching MONDO:0016362 attenuated familial adenomatous polyposis skos:exactMatch NCIT:C6729 Attenuated Familial Adenomatous Polyposis semapv:UnspecifiedMatching MONDO:0016362 attenuated familial adenomatous polyposis skos:exactMatch Orphanet:220460 Attenuated familial adenomatous polyposis semapv:UnspecifiedMatching MONDO:0016362 attenuated familial adenomatous polyposis skos:exactMatch SCTID:715866009 semapv:UnspecifiedMatching MONDO:0016362 attenuated familial adenomatous polyposis skos:exactMatch UMLS:C2674616 semapv:UnspecifiedMatching MONDO:0016362 attenuated familial adenomatous polyposis skos:exactMatch icd11.foundation:1023083906 Attenuated familial adenomatous polyposis semapv:UnspecifiedMatching MONDO:0016362 attenuated familial adenomatous polyposis skos:exactMatch mesh:C538265 semapv:UnspecifiedMatching MONDO:0016363 obsolete rare hereditary hemochromatosis skos:exactMatch Orphanet:220489 Rare hereditary hemochromatosis semapv:UnspecifiedMatching MONDO:0016364 Joubert syndrome with ocular defect skos:exactMatch MEDGEN:909607 semapv:UnspecifiedMatching MONDO:0016364 Joubert syndrome with ocular defect skos:exactMatch Orphanet:220493 Joubert syndrome with ocular defect semapv:UnspecifiedMatching MONDO:0016364 Joubert syndrome with ocular defect skos:exactMatch SCTID:716998009 semapv:UnspecifiedMatching MONDO:0016364 Joubert syndrome with ocular defect skos:exactMatch UMLS:C4274118 semapv:UnspecifiedMatching MONDO:0016364 Joubert syndrome with ocular defect skos:exactMatch icd11.foundation:1358617785 Joubert syndrome with ocular defect semapv:UnspecifiedMatching MONDO:0016365 familial primary hyperparathyroidism skos:exactMatch MEDGEN:543605 semapv:UnspecifiedMatching MONDO:0016365 familial primary hyperparathyroidism skos:exactMatch Orphanet:2207 Familial primary hyperparathyroidism semapv:UnspecifiedMatching MONDO:0016365 familial primary hyperparathyroidism skos:exactMatch UMLS:C0271846 semapv:UnspecifiedMatching MONDO:0016365 familial primary hyperparathyroidism skos:exactMatch icd11.foundation:1186866066 Familial primary hyperparathyroidism semapv:UnspecifiedMatching MONDO:0016366 maternal phenylketonuria skos:exactMatch MEDGEN:88435 semapv:UnspecifiedMatching MONDO:0016366 maternal phenylketonuria skos:exactMatch Orphanet:2209 Maternal phenylketonuria syndrome semapv:UnspecifiedMatching MONDO:0016366 maternal phenylketonuria skos:exactMatch UMLS:C0085547 semapv:UnspecifiedMatching MONDO:0016366 maternal phenylketonuria skos:exactMatch icd11.foundation:1509230254 Embryofetopathy due to maternal phenylketonuria semapv:UnspecifiedMatching MONDO:0016366 maternal phenylketonuria skos:exactMatch mesh:D017042 semapv:UnspecifiedMatching MONDO:0016367 dermatomyositis skos:exactMatch DOID:10223 dermatomyositis semapv:UnspecifiedMatching MONDO:0016367 dermatomyositis skos:exactMatch EFO:0000398 semapv:UnspecifiedMatching MONDO:0016367 dermatomyositis skos:exactMatch ICD10CM:M33 Dermatopolymyositis semapv:UnspecifiedMatching MONDO:0016367 dermatomyositis skos:exactMatch MEDGEN:8331 semapv:UnspecifiedMatching MONDO:0016367 dermatomyositis skos:exactMatch NCIT:C26744 Dermatomyositis semapv:UnspecifiedMatching MONDO:0016367 dermatomyositis skos:exactMatch Orphanet:221 Dermatomyositis semapv:UnspecifiedMatching MONDO:0016367 dermatomyositis skos:exactMatch SCTID:396230008 semapv:UnspecifiedMatching MONDO:0016367 dermatomyositis skos:exactMatch UMLS:C0011633 semapv:UnspecifiedMatching MONDO:0016367 dermatomyositis skos:exactMatch icd11.foundation:739030149 Dermatomyositis semapv:UnspecifiedMatching MONDO:0016367 dermatomyositis skos:exactMatch mesh:D003882 semapv:UnspecifiedMatching MONDO:0016368 Rothmund-Thomson syndrome type 1 skos:exactMatch MEDGEN:1684764 semapv:UnspecifiedMatching MONDO:0016368 Rothmund-Thomson syndrome type 1 skos:exactMatch NCIT:C178826 Rothmund-Thomson Syndrome Type 1 semapv:UnspecifiedMatching MONDO:0016368 Rothmund-Thomson syndrome type 1 skos:exactMatch OMIM:618625 rothmund-thomson syndrome, type 1 semapv:UnspecifiedMatching MONDO:0016368 Rothmund-Thomson syndrome type 1 skos:exactMatch Orphanet:221008 Rothmund-Thomson syndrome type 1 semapv:UnspecifiedMatching MONDO:0016368 Rothmund-Thomson syndrome type 1 skos:exactMatch UMLS:C5231433 semapv:UnspecifiedMatching MONDO:0016368 Rothmund-Thomson syndrome type 1 skos:exactMatch icd11.foundation:717855330 Rothmund-Thomson syndrome type 1 semapv:UnspecifiedMatching MONDO:0016369 Rothmund-Thomson syndrome type 2 skos:exactMatch MEDGEN:1684753 semapv:UnspecifiedMatching MONDO:0016369 Rothmund-Thomson syndrome type 2 skos:exactMatch NCIT:C178827 Rothmund-Thomson Syndrome Type 2 semapv:UnspecifiedMatching MONDO:0016369 Rothmund-Thomson syndrome type 2 skos:exactMatch OMIM:268400 rothmund-thomson syndrome, type 2 semapv:UnspecifiedMatching MONDO:0016369 Rothmund-Thomson syndrome type 2 skos:exactMatch Orphanet:221016 Rothmund-Thomson syndrome type 2 semapv:UnspecifiedMatching MONDO:0016369 Rothmund-Thomson syndrome type 2 skos:exactMatch UMLS:C5203410 semapv:UnspecifiedMatching MONDO:0016369 Rothmund-Thomson syndrome type 2 skos:exactMatch icd11.foundation:2111040755 Rothmund-Thomson syndrome type 2 semapv:UnspecifiedMatching MONDO:0016370 Marchiafava-Bignami disease skos:exactMatch EFO:1001809 semapv:UnspecifiedMatching MONDO:0016370 Marchiafava-Bignami disease skos:exactMatch MEDGEN:65955 semapv:UnspecifiedMatching MONDO:0016370 Marchiafava-Bignami disease skos:exactMatch Orphanet:221074 Marchiafava-Bignami disease semapv:UnspecifiedMatching MONDO:0016370 Marchiafava-Bignami disease skos:exactMatch SCTID:386766007 semapv:UnspecifiedMatching MONDO:0016370 Marchiafava-Bignami disease skos:exactMatch UMLS:C0238265 semapv:UnspecifiedMatching MONDO:0016370 Marchiafava-Bignami disease skos:exactMatch icd11.foundation:1694687314 Marchiafava-Bignami syndrome semapv:UnspecifiedMatching MONDO:0016370 Marchiafava-Bignami disease skos:exactMatch mesh:D054319 semapv:UnspecifiedMatching MONDO:0016371 combined hyperactive dysfunction syndrome of the cranial nerves skos:exactMatch MEDGEN:1677292 semapv:UnspecifiedMatching MONDO:0016371 combined hyperactive dysfunction syndrome of the cranial nerves skos:exactMatch Orphanet:221078 Combined hyperactive dysfunction syndrome of the cranial nerves semapv:UnspecifiedMatching MONDO:0016371 combined hyperactive dysfunction syndrome of the cranial nerves skos:exactMatch UMLS:C5190851 semapv:UnspecifiedMatching MONDO:0016371 combined hyperactive dysfunction syndrome of the cranial nerves skos:exactMatch icd11.foundation:457686735 Combined hyperactive dysfunction syndrome of the cranial nerves semapv:UnspecifiedMatching MONDO:0016372 glossopharyngeal neuralgia skos:exactMatch DOID:14423 glossopharyngeal neuralgia semapv:UnspecifiedMatching MONDO:0016372 glossopharyngeal neuralgia skos:exactMatch MEDGEN:57595 semapv:UnspecifiedMatching MONDO:0016372 glossopharyngeal neuralgia skos:exactMatch Orphanet:221098 Glossopharyngeal neuralgia semapv:UnspecifiedMatching MONDO:0016372 glossopharyngeal neuralgia skos:exactMatch SCTID:43763009 semapv:UnspecifiedMatching MONDO:0016372 glossopharyngeal neuralgia skos:exactMatch UMLS:C0154731 semapv:UnspecifiedMatching MONDO:0016373 isolated facial myokymia skos:exactMatch ICD10CM:G51.4 Facial myokymia semapv:UnspecifiedMatching MONDO:0016373 isolated facial myokymia skos:exactMatch MEDGEN:78741 semapv:UnspecifiedMatching MONDO:0016373 isolated facial myokymia skos:exactMatch UMLS:C0270871 semapv:UnspecifiedMatching MONDO:0016374 cranial neuralgia skos:exactMatch MEDGEN:507603 semapv:UnspecifiedMatching MONDO:0016374 cranial neuralgia skos:exactMatch Orphanet:221109 Cranial neuralgia semapv:UnspecifiedMatching MONDO:0016374 cranial neuralgia skos:exactMatch SCTID:23096007 semapv:UnspecifiedMatching MONDO:0016374 cranial neuralgia skos:exactMatch UMLS:C0010269 semapv:UnspecifiedMatching MONDO:0016375 obsolete acquired peripheral movement disorder skos:exactMatch Orphanet:221114 Acquired peripheral movement disorder semapv:UnspecifiedMatching MONDO:0016376 confetti-like macular atrophy skos:exactMatch MEDGEN:1803272 semapv:UnspecifiedMatching MONDO:0016376 confetti-like macular atrophy skos:exactMatch Orphanet:221142 Confetti-like macular atrophy semapv:UnspecifiedMatching MONDO:0016376 confetti-like macular atrophy skos:exactMatch UMLS:C5687155 semapv:UnspecifiedMatching MONDO:0016377 Pitt-Hopkins-like syndrome skos:exactMatch MEDGEN:1648432 semapv:UnspecifiedMatching MONDO:0016377 Pitt-Hopkins-like syndrome skos:exactMatch UMLS:C4751168 semapv:UnspecifiedMatching MONDO:0016378 maternal hyperthermia induced birth defects skos:exactMatch MEDGEN:1631447 semapv:UnspecifiedMatching MONDO:0016378 maternal hyperthermia induced birth defects skos:exactMatch Orphanet:2216 Maternal hyperthermia-induced birth defects semapv:UnspecifiedMatching MONDO:0016378 maternal hyperthermia induced birth defects skos:exactMatch SCTID:765138001 semapv:UnspecifiedMatching MONDO:0016378 maternal hyperthermia induced birth defects skos:exactMatch UMLS:C4707329 semapv:UnspecifiedMatching MONDO:0016378 maternal hyperthermia induced birth defects skos:exactMatch icd11.foundation:1917022285 Maternal hyperthermia induced birth defects semapv:UnspecifiedMatching MONDO:0016379 erosive pustular dermatosis of the scalp skos:exactMatch MEDGEN:96057 semapv:UnspecifiedMatching MONDO:0016379 erosive pustular dermatosis of the scalp skos:exactMatch Orphanet:222 Erosive pustular dermatosis of the scalp semapv:UnspecifiedMatching MONDO:0016379 erosive pustular dermatosis of the scalp skos:exactMatch SCTID:238733003 semapv:UnspecifiedMatching MONDO:0016379 erosive pustular dermatosis of the scalp skos:exactMatch UMLS:C0406464 semapv:UnspecifiedMatching MONDO:0016379 erosive pustular dermatosis of the scalp skos:exactMatch icd11.foundation:982719772 Erosive pustular dermatosis of scalp semapv:UnspecifiedMatching MONDO:0016380 acquired hypertrichosis lanuginosa skos:exactMatch ICD10CM:L68.1 Acquired hypertrichosis lanuginosa semapv:UnspecifiedMatching MONDO:0016380 acquired hypertrichosis lanuginosa skos:exactMatch MEDGEN:87468 semapv:UnspecifiedMatching MONDO:0016380 acquired hypertrichosis lanuginosa skos:exactMatch Orphanet:2221 Acquired hypertrichosis lanuginosa semapv:UnspecifiedMatching MONDO:0016380 acquired hypertrichosis lanuginosa skos:exactMatch SCTID:25967007 semapv:UnspecifiedMatching MONDO:0016380 acquired hypertrichosis lanuginosa skos:exactMatch UMLS:C0343072 semapv:UnspecifiedMatching MONDO:0016380 acquired hypertrichosis lanuginosa skos:exactMatch icd11.foundation:1885858920 Acquired hypertrichosis lanuginosa semapv:UnspecifiedMatching MONDO:0016381 hypertrichosis lanuginosa congenita skos:exactMatch MEDGEN:66727 semapv:UnspecifiedMatching MONDO:0016381 hypertrichosis lanuginosa congenita skos:exactMatch OMIM:145700 hypertrichosis lanuginosa congenita semapv:UnspecifiedMatching MONDO:0016381 hypertrichosis lanuginosa congenita skos:exactMatch Orphanet:2222 Hypertrichosis lanuginosa congenita semapv:UnspecifiedMatching MONDO:0016381 hypertrichosis lanuginosa congenita skos:exactMatch SCTID:201163007 semapv:UnspecifiedMatching MONDO:0016381 hypertrichosis lanuginosa congenita skos:exactMatch UMLS:C0235864 semapv:UnspecifiedMatching MONDO:0016381 hypertrichosis lanuginosa congenita skos:exactMatch icd11.foundation:199539869 Hypertrichosis lanuginosa congenita semapv:UnspecifiedMatching MONDO:0016381 hypertrichosis lanuginosa congenita skos:exactMatch mesh:C538389 semapv:UnspecifiedMatching MONDO:0016382 hereditary poikiloderma skos:exactMatch MEDGEN:1842934 semapv:UnspecifiedMatching MONDO:0016382 hereditary poikiloderma skos:exactMatch Orphanet:222628 Hereditary poikiloderma semapv:UnspecifiedMatching MONDO:0016382 hereditary poikiloderma skos:exactMatch UMLS:C5680891 semapv:UnspecifiedMatching MONDO:0016383 nephrogenic diabetes insipidus skos:exactMatch DOID:12387 nephrogenic diabetes insipidus semapv:UnspecifiedMatching MONDO:0016383 nephrogenic diabetes insipidus skos:exactMatch ICD10CM:N25.1 Nephrogenic diabetes insipidus semapv:UnspecifiedMatching MONDO:0016383 nephrogenic diabetes insipidus skos:exactMatch MEDGEN:57876 semapv:UnspecifiedMatching MONDO:0016383 nephrogenic diabetes insipidus skos:exactMatch NCIT:C84919 Nephrogenic Diabetes Insipidus semapv:UnspecifiedMatching MONDO:0016383 nephrogenic diabetes insipidus skos:exactMatch Orphanet:223 Arginine vasopressin resistance semapv:UnspecifiedMatching MONDO:0016383 nephrogenic diabetes insipidus skos:exactMatch SCTID:111395007 semapv:UnspecifiedMatching MONDO:0016383 nephrogenic diabetes insipidus skos:exactMatch UMLS:C0162283 semapv:UnspecifiedMatching MONDO:0016383 nephrogenic diabetes insipidus skos:exactMatch icd11.foundation:1417669099 Nephrogenic diabetes insipidus semapv:UnspecifiedMatching MONDO:0016383 nephrogenic diabetes insipidus skos:exactMatch mesh:D018500 semapv:UnspecifiedMatching MONDO:0016384 hypogonadotropic hypogonadism-frontoparietal alopecia syndrome skos:exactMatch MEDGEN:928748 semapv:UnspecifiedMatching MONDO:0016384 hypogonadotropic hypogonadism-frontoparietal alopecia syndrome skos:exactMatch Orphanet:2230 Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome semapv:UnspecifiedMatching MONDO:0016384 hypogonadotropic hypogonadism-frontoparietal alopecia syndrome skos:exactMatch SCTID:721842008 semapv:UnspecifiedMatching MONDO:0016384 hypogonadotropic hypogonadism-frontoparietal alopecia syndrome skos:exactMatch UMLS:C4303079 semapv:UnspecifiedMatching MONDO:0016385 hypogonadism-mitral valve prolapse-intellectual disability syndrome skos:exactMatch MEDGEN:444117 semapv:UnspecifiedMatching MONDO:0016385 hypogonadism-mitral valve prolapse-intellectual disability syndrome skos:exactMatch Orphanet:2233 Hypogonadism-mitral valve prolapse-intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0016385 hypogonadism-mitral valve prolapse-intellectual disability syndrome skos:exactMatch SCTID:721841001 semapv:UnspecifiedMatching MONDO:0016385 hypogonadism-mitral valve prolapse-intellectual disability syndrome skos:exactMatch UMLS:C2931685 semapv:UnspecifiedMatching MONDO:0016385 hypogonadism-mitral valve prolapse-intellectual disability syndrome skos:exactMatch mesh:C537981 semapv:UnspecifiedMatching MONDO:0016386 hypogonadotropic hypogonadism-retinitis pigmentosa syndrome skos:exactMatch MEDGEN:419479 semapv:UnspecifiedMatching MONDO:0016386 hypogonadotropic hypogonadism-retinitis pigmentosa syndrome skos:exactMatch Orphanet:2235 Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome semapv:UnspecifiedMatching MONDO:0016386 hypogonadotropic hypogonadism-retinitis pigmentosa syndrome skos:exactMatch UMLS:C2931722 semapv:UnspecifiedMatching MONDO:0016386 hypogonadotropic hypogonadism-retinitis pigmentosa syndrome skos:exactMatch mesh:C538075 semapv:UnspecifiedMatching MONDO:0016387 mitochondrial oxidative phosphorylation disorder skos:exactMatch MEDGEN:1825947 semapv:UnspecifiedMatching MONDO:0016387 mitochondrial oxidative phosphorylation disorder skos:exactMatch Orphanet:223713 Mitochondrial oxidative phosphorylation disorder semapv:UnspecifiedMatching MONDO:0016387 mitochondrial oxidative phosphorylation disorder skos:exactMatch UMLS:C5679825 semapv:UnspecifiedMatching MONDO:0016387 mitochondrial oxidative phosphorylation disorder skos:exactMatch icd11.foundation:1204111545 Disorders of mitochondrial oxidative phosphorylation semapv:UnspecifiedMatching MONDO:0016390 familial hypoparathyroidism skos:exactMatch DOID:0111387 familial isolated hypoparathyroidism semapv:UnspecifiedMatching MONDO:0016390 familial hypoparathyroidism skos:exactMatch MEDGEN:322005 semapv:UnspecifiedMatching MONDO:0016390 familial hypoparathyroidism skos:exactMatch OMIMPS:146200 Hypoparathyroidism, familial semapv:UnspecifiedMatching MONDO:0016390 familial hypoparathyroidism skos:exactMatch Orphanet:2238 Familial isolated hypoparathyroidism semapv:UnspecifiedMatching MONDO:0016390 familial hypoparathyroidism skos:exactMatch SCTID:725036000 semapv:UnspecifiedMatching MONDO:0016390 familial hypoparathyroidism skos:exactMatch UMLS:C1832648 semapv:UnspecifiedMatching MONDO:0016390 familial hypoparathyroidism skos:exactMatch icd11.foundation:1907423603 Familial hypoparathyroidism semapv:UnspecifiedMatching MONDO:0016390 familial hypoparathyroidism skos:exactMatch mesh:C537156 semapv:UnspecifiedMatching MONDO:0016391 neonatal diabetes mellitus skos:exactMatch DOID:11717 neonatal diabetes mellitus semapv:UnspecifiedMatching MONDO:0016391 neonatal diabetes mellitus skos:exactMatch ICD10CM:P70.2 Neonatal diabetes mellitus semapv:UnspecifiedMatching MONDO:0016391 neonatal diabetes mellitus skos:exactMatch MEDGEN:57645 semapv:UnspecifiedMatching MONDO:0016391 neonatal diabetes mellitus skos:exactMatch NCIT:C99248 Neonatal Diabetes Mellitus semapv:UnspecifiedMatching MONDO:0016391 neonatal diabetes mellitus skos:exactMatch Orphanet:224 Neonatal diabetes mellitus semapv:UnspecifiedMatching MONDO:0016391 neonatal diabetes mellitus skos:exactMatch SCTID:49817004 semapv:UnspecifiedMatching MONDO:0016391 neonatal diabetes mellitus skos:exactMatch UMLS:C0158981 semapv:UnspecifiedMatching MONDO:0016391 neonatal diabetes mellitus skos:exactMatch icd11.foundation:1217915084 Neonatal diabetes mellitus semapv:UnspecifiedMatching MONDO:0016392 cerebellar hypoplasia-tapetoretinal degeneration syndrome skos:exactMatch DOID:0070339 cerebellar hyplasia/atrophy, epilepsy, and global developmental delay semapv:UnspecifiedMatching MONDO:0016392 cerebellar hypoplasia-tapetoretinal degeneration syndrome skos:exactMatch MEDGEN:902621 semapv:UnspecifiedMatching MONDO:0016392 cerebellar hypoplasia-tapetoretinal degeneration syndrome skos:exactMatch Orphanet:2246 Cerebellar hypoplasia-tapetoretinal degeneration syndrome semapv:UnspecifiedMatching MONDO:0016392 cerebellar hypoplasia-tapetoretinal degeneration syndrome skos:exactMatch UMLS:C4275139 semapv:UnspecifiedMatching MONDO:0016394 sporadic infantile bilateral striatal necrosis skos:exactMatch MEDGEN:1672494 semapv:UnspecifiedMatching MONDO:0016394 sporadic infantile bilateral striatal necrosis skos:exactMatch Orphanet:225147 Sporadic infantile bilateral striatal necrosis semapv:UnspecifiedMatching MONDO:0016394 sporadic infantile bilateral striatal necrosis skos:exactMatch UMLS:C4087175 semapv:UnspecifiedMatching MONDO:0016394 sporadic infantile bilateral striatal necrosis skos:exactMatch icd11.foundation:1174703901 Sporadic infantile bilateral striatal necrosis semapv:UnspecifiedMatching MONDO:0016395 foveal hypoplasia-presenile cataract syndrome skos:exactMatch MEDGEN:419129 semapv:UnspecifiedMatching MONDO:0016395 foveal hypoplasia-presenile cataract syndrome skos:exactMatch Orphanet:2253 Foveal hypoplasia-presenile cataract syndrome semapv:UnspecifiedMatching MONDO:0016395 foveal hypoplasia-presenile cataract syndrome skos:exactMatch UMLS:C2931644 semapv:UnspecifiedMatching MONDO:0016395 foveal hypoplasia-presenile cataract syndrome skos:exactMatch mesh:C537858 semapv:UnspecifiedMatching MONDO:0016396 pontocerebellar hypoplasia type 1 skos:exactMatch DOID:0112322 pontocerebellar hypoplasia type 1 semapv:UnspecifiedMatching MONDO:0016396 pontocerebellar hypoplasia type 1 skos:exactMatch MEDGEN:1780208 semapv:UnspecifiedMatching MONDO:0016396 pontocerebellar hypoplasia type 1 skos:exactMatch Orphanet:2254 Pontocerebellar hypoplasia type 1 semapv:UnspecifiedMatching MONDO:0016396 pontocerebellar hypoplasia type 1 skos:exactMatch SCTID:718610008 semapv:UnspecifiedMatching MONDO:0016396 pontocerebellar hypoplasia type 1 skos:exactMatch UMLS:C5442006 semapv:UnspecifiedMatching MONDO:0016396 pontocerebellar hypoplasia type 1 skos:exactMatch icd11.foundation:1227773923 Pontocerebellar hypoplasia type 1 semapv:UnspecifiedMatching MONDO:0016396 pontocerebellar hypoplasia type 1 skos:exactMatch mesh:C548069 semapv:UnspecifiedMatching MONDO:0016397 obsolete lysosomal disease with epilepsy skos:exactMatch Orphanet:225681 Lysosomal disease with epilepsy semapv:UnspecifiedMatching MONDO:0016398 obsolete peroxisomal disease with epilepsy skos:exactMatch Orphanet:225686 Peroxisomal disease with epilepsy semapv:UnspecifiedMatching MONDO:0016399 obsolete amino acid or protein metabolism disease with epilepsy skos:exactMatch Orphanet:225689 Amino acid or protein metabolism disease with epilepsy semapv:UnspecifiedMatching MONDO:0016400 obsolete metal transport or utilization disorder with epilepsy skos:exactMatch Orphanet:225692 Metal transport or utilization disorder with epilepsy semapv:UnspecifiedMatching MONDO:0016401 obsolete energy metabolism disorder with epilepsy skos:exactMatch Orphanet:225696 Energy metabolism disorder with epilepsy semapv:UnspecifiedMatching MONDO:0016402 obsolete mitochondrial disease with epilepsy skos:exactMatch Orphanet:225700 Mitochondrial disease with epilepsy semapv:UnspecifiedMatching MONDO:0016403 obsolete mitochondrial disease with peripheral neuropathy skos:exactMatch Orphanet:225703 Mitochondrial disease with peripheral neuropathy semapv:UnspecifiedMatching MONDO:0016404 obsolete metabolic neurotransmission anomaly with epilepsy skos:exactMatch Orphanet:225707 Metabolic neurotransmission anomaly with epilepsy semapv:UnspecifiedMatching MONDO:0016405 obsolete sterol metabolism disorder with epilepsy skos:exactMatch Orphanet:225710 Sterol metabolism disorder with epilepsy semapv:UnspecifiedMatching MONDO:0016406 obsolete other metabolic disease with epilepsy skos:exactMatch Orphanet:225713 Other metabolic disease with epilepsy semapv:UnspecifiedMatching MONDO:0016407 oligomeganephronia skos:exactMatch DOID:0111142 oligomeganephronia semapv:UnspecifiedMatching MONDO:0016407 oligomeganephronia skos:exactMatch MEDGEN:609100 semapv:UnspecifiedMatching MONDO:0016407 oligomeganephronia skos:exactMatch NCIT:C123202 Oligomeganephronia semapv:UnspecifiedMatching MONDO:0016407 oligomeganephronia skos:exactMatch Orphanet:2260 Oligomeganephronia semapv:UnspecifiedMatching MONDO:0016407 oligomeganephronia skos:exactMatch SCTID:18417009 semapv:UnspecifiedMatching MONDO:0016407 oligomeganephronia skos:exactMatch UMLS:C0431694 semapv:UnspecifiedMatching MONDO:0016407 oligomeganephronia skos:exactMatch icd11.foundation:1283447040 Oligomeganephronia semapv:UnspecifiedMatching MONDO:0016408 permanent congenital hypothyroidism skos:exactMatch MEDGEN:1843186 semapv:UnspecifiedMatching MONDO:0016408 permanent congenital hypothyroidism skos:exactMatch Orphanet:226292 Permanent congenital hypothyroidism semapv:UnspecifiedMatching MONDO:0016408 permanent congenital hypothyroidism skos:exactMatch UMLS:C5680893 semapv:UnspecifiedMatching MONDO:0016408 permanent congenital hypothyroidism skos:exactMatch icd11.foundation:801729371 Permanent congenital hypothyroidism semapv:UnspecifiedMatching MONDO:0016409 obsolete primary congenital hypothyroidism skos:exactMatch Orphanet:226295 Primary congenital hypothyroidism semapv:UnspecifiedMatching MONDO:0016410 central congenital hypothyroidism skos:exactMatch MEDGEN:927869 semapv:UnspecifiedMatching MONDO:0016410 central congenital hypothyroidism skos:exactMatch NCIT:C113144 Central Hypothyroidism semapv:UnspecifiedMatching MONDO:0016410 central congenital hypothyroidism skos:exactMatch Orphanet:226298 Central congenital hypothyroidism semapv:UnspecifiedMatching MONDO:0016410 central congenital hypothyroidism skos:exactMatch UMLS:C4302200 semapv:UnspecifiedMatching MONDO:0016410 central congenital hypothyroidism skos:exactMatch icd11.foundation:848364569 Congenital central hypothyroidism semapv:UnspecifiedMatching MONDO:0016411 hypothyroidism due to deficient transcription factors involved in pituitary development or function skos:exactMatch MEDGEN:900830 semapv:UnspecifiedMatching MONDO:0016411 hypothyroidism due to deficient transcription factors involved in pituitary development or function skos:exactMatch Orphanet:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function semapv:UnspecifiedMatching MONDO:0016411 hypothyroidism due to deficient transcription factors involved in pituitary development or function skos:exactMatch UMLS:C4273672 semapv:UnspecifiedMatching MONDO:0016412 peripheral hypothyroidism skos:exactMatch MEDGEN:1843430 semapv:UnspecifiedMatching MONDO:0016412 peripheral hypothyroidism skos:exactMatch UMLS:C5704669 semapv:UnspecifiedMatching MONDO:0016413 congenital hypothyroidism due to maternal intake of antithyroid drugs skos:exactMatch MEDGEN:1673658 semapv:UnspecifiedMatching MONDO:0016413 congenital hypothyroidism due to maternal intake of antithyroid drugs skos:exactMatch Orphanet:226313 Congenital hypothyroidism due to maternal intake of antithyroid drugs semapv:UnspecifiedMatching MONDO:0016413 congenital hypothyroidism due to maternal intake of antithyroid drugs skos:exactMatch UMLS:C5190849 semapv:UnspecifiedMatching MONDO:0016414 hypotrichosis-intellectual disability, Lopes type skos:exactMatch MEDGEN:1371854 semapv:UnspecifiedMatching MONDO:0016414 hypotrichosis-intellectual disability, Lopes type skos:exactMatch Orphanet:2266 Hypotrichosis-intellectual disability, Lopes type semapv:UnspecifiedMatching MONDO:0016414 hypotrichosis-intellectual disability, Lopes type skos:exactMatch UMLS:C4509839 semapv:UnspecifiedMatching MONDO:0016416 diphallia skos:exactMatch MEDGEN:450542 semapv:UnspecifiedMatching MONDO:0016416 diphallia skos:exactMatch Orphanet:227 Diphallia semapv:UnspecifiedMatching MONDO:0016416 diphallia skos:exactMatch SCTID:253851000 semapv:UnspecifiedMatching MONDO:0016416 diphallia skos:exactMatch UMLS:C0345322 semapv:UnspecifiedMatching MONDO:0016416 diphallia skos:exactMatch icd11.foundation:1465839134 Diphallia semapv:UnspecifiedMatching MONDO:0016417 congenital ichthyosis-microcephalus-tetraplegia syndrome skos:exactMatch MEDGEN:1809863 semapv:UnspecifiedMatching MONDO:0016417 congenital ichthyosis-microcephalus-tetraplegia syndrome skos:exactMatch Orphanet:2271 Congenital ichthyosis-microcephalus-tetraplegia syndrome semapv:UnspecifiedMatching MONDO:0016417 congenital ichthyosis-microcephalus-tetraplegia syndrome skos:exactMatch UMLS:C5679626 semapv:UnspecifiedMatching MONDO:0016418 multiple system atrophy, cerebellar type skos:exactMatch MEDGEN:1843304 semapv:UnspecifiedMatching MONDO:0016418 multiple system atrophy, cerebellar type skos:exactMatch Orphanet:227510 Multiple system atrophy, cerebellar type semapv:UnspecifiedMatching MONDO:0016418 multiple system atrophy, cerebellar type skos:exactMatch UMLS:C5554234 semapv:UnspecifiedMatching MONDO:0016418 multiple system atrophy, cerebellar type skos:exactMatch icd11.foundation:1585600114 Multiple system atrophy, Cerebellar type semapv:UnspecifiedMatching MONDO:0016419 hereditary breast carcinoma skos:exactMatch MEDGEN:87542 semapv:UnspecifiedMatching MONDO:0016419 hereditary breast carcinoma skos:exactMatch NCIT:C4503 Hereditary Breast Carcinoma semapv:UnspecifiedMatching MONDO:0016419 hereditary breast carcinoma skos:exactMatch OMIM:114480 breast cancer semapv:UnspecifiedMatching MONDO:0016419 hereditary breast carcinoma skos:exactMatch Orphanet:227535 Hereditary breast cancer semapv:UnspecifiedMatching MONDO:0016419 hereditary breast carcinoma skos:exactMatch SCTID:254843006 semapv:UnspecifiedMatching MONDO:0016419 hereditary breast carcinoma skos:exactMatch UMLS:C0346153 semapv:UnspecifiedMatching MONDO:0016419 hereditary breast carcinoma skos:exactMatch mesh:C562840 semapv:UnspecifiedMatching MONDO:0016420 familial flecked retinopathy skos:exactMatch icd11.foundation:979898273 Familial flecked retinopathy semapv:UnspecifiedMatching MONDO:0016421 toxic oil syndrome skos:exactMatch Orphanet:227972 Toxic oil syndrome semapv:UnspecifiedMatching MONDO:0016421 toxic oil syndrome skos:exactMatch SCTID:239910001 semapv:UnspecifiedMatching MONDO:0016422 autoimmune polyendocrinopathy type 3 skos:exactMatch MEDGEN:453060 semapv:UnspecifiedMatching MONDO:0016422 autoimmune polyendocrinopathy type 3 skos:exactMatch Orphanet:227982 Autoimmune polyendocrinopathy type 3 semapv:UnspecifiedMatching MONDO:0016422 autoimmune polyendocrinopathy type 3 skos:exactMatch SCTID:449731009 semapv:UnspecifiedMatching MONDO:0016422 autoimmune polyendocrinopathy type 3 skos:exactMatch UMLS:C1535942 semapv:UnspecifiedMatching MONDO:0016422 autoimmune polyendocrinopathy type 3 skos:exactMatch icd11.foundation:1361747293 Autoimmune polyendocrinopathy type 3 semapv:UnspecifiedMatching MONDO:0016423 autoimmune polyendocrinopathy type 4 skos:exactMatch MEDGEN:757804 semapv:UnspecifiedMatching MONDO:0016423 autoimmune polyendocrinopathy type 4 skos:exactMatch Orphanet:227990 Autoimmune polyendocrinopathy type 4 semapv:UnspecifiedMatching MONDO:0016423 autoimmune polyendocrinopathy type 4 skos:exactMatch SCTID:449730005 semapv:UnspecifiedMatching MONDO:0016423 autoimmune polyendocrinopathy type 4 skos:exactMatch UMLS:C3266026 semapv:UnspecifiedMatching MONDO:0016423 autoimmune polyendocrinopathy type 4 skos:exactMatch icd11.foundation:1561026337 Autoimmune polyendocrinopathy type 4 semapv:UnspecifiedMatching MONDO:0016424 progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome skos:exactMatch MEDGEN:930500 semapv:UnspecifiedMatching MONDO:0016424 progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome skos:exactMatch Orphanet:228012 Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome semapv:UnspecifiedMatching MONDO:0016424 progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome skos:exactMatch UMLS:C4304831 semapv:UnspecifiedMatching MONDO:0016425 Hughes-Stovin syndrome skos:exactMatch MEDGEN:929147 semapv:UnspecifiedMatching MONDO:0016425 Hughes-Stovin syndrome skos:exactMatch Orphanet:228116 Hughes-Stovin syndrome semapv:UnspecifiedMatching MONDO:0016425 Hughes-Stovin syndrome skos:exactMatch SCTID:721226005 semapv:UnspecifiedMatching MONDO:0016425 Hughes-Stovin syndrome skos:exactMatch UMLS:C4303478 semapv:UnspecifiedMatching MONDO:0016425 Hughes-Stovin syndrome skos:exactMatch icd11.foundation:1047123748 Hughes-Stovin syndrome semapv:UnspecifiedMatching MONDO:0016426 fusariosis skos:exactMatch DOID:0050289 fusariosis semapv:UnspecifiedMatching MONDO:0016426 fusariosis skos:exactMatch EFO:1001795 semapv:UnspecifiedMatching MONDO:0016426 fusariosis skos:exactMatch MEDGEN:452375 semapv:UnspecifiedMatching MONDO:0016426 fusariosis skos:exactMatch Orphanet:228119 Fusariosis semapv:UnspecifiedMatching MONDO:0016426 fusariosis skos:exactMatch SCTID:64250002 semapv:UnspecifiedMatching MONDO:0016426 fusariosis skos:exactMatch UMLS:C0276758 semapv:UnspecifiedMatching MONDO:0016426 fusariosis skos:exactMatch icd11.foundation:565900954 Fusariosis semapv:UnspecifiedMatching MONDO:0016426 fusariosis skos:exactMatch mesh:D060585 semapv:UnspecifiedMatching MONDO:0016428 obsolete multiple sclerosis variant skos:exactMatch Orphanet:228145 Multiple sclerosis variant semapv:UnspecifiedMatching MONDO:0016429 Marburg acute multiple sclerosis skos:exactMatch MEDGEN:1641985 semapv:UnspecifiedMatching MONDO:0016429 Marburg acute multiple sclerosis skos:exactMatch Orphanet:228157 Marburg acute multiple sclerosis semapv:UnspecifiedMatching MONDO:0016429 Marburg acute multiple sclerosis skos:exactMatch SCTID:766246000 semapv:UnspecifiedMatching MONDO:0016429 Marburg acute multiple sclerosis skos:exactMatch UMLS:C4707723 semapv:UnspecifiedMatching MONDO:0016429 Marburg acute multiple sclerosis skos:exactMatch icd11.foundation:113448281 Marburg acute multiple sclerosis semapv:UnspecifiedMatching MONDO:0016430 Balo concentric sclerosis skos:exactMatch DOID:0060215 Balo concentric sclerosis semapv:UnspecifiedMatching MONDO:0016430 Balo concentric sclerosis skos:exactMatch MEDGEN:498 semapv:UnspecifiedMatching MONDO:0016430 Balo concentric sclerosis skos:exactMatch Orphanet:228165 Baló concentric sclerosis semapv:UnspecifiedMatching MONDO:0016430 Balo concentric sclerosis skos:exactMatch SCTID:230380005 semapv:UnspecifiedMatching MONDO:0016430 Balo concentric sclerosis skos:exactMatch UMLS:C0004712 semapv:UnspecifiedMatching MONDO:0016431 autosomal dominant Charcot-Marie-Tooth disease type 2M skos:exactMatch MEDGEN:930341 semapv:UnspecifiedMatching MONDO:0016431 autosomal dominant Charcot-Marie-Tooth disease type 2M skos:exactMatch Orphanet:228179 Autosomal dominant Charcot-Marie-Tooth disease type 2M semapv:UnspecifiedMatching MONDO:0016431 autosomal dominant Charcot-Marie-Tooth disease type 2M skos:exactMatch SCTID:719514002 semapv:UnspecifiedMatching MONDO:0016431 autosomal dominant Charcot-Marie-Tooth disease type 2M skos:exactMatch UMLS:C4304672 semapv:UnspecifiedMatching MONDO:0016431 autosomal dominant Charcot-Marie-Tooth disease type 2M skos:exactMatch icd11.foundation:1601555981 Autosomal dominant Charcot-Marie-Tooth disease type 2M semapv:UnspecifiedMatching MONDO:0016432 heart-hand syndrome skos:exactMatch MEDGEN:1853290 semapv:UnspecifiedMatching MONDO:0016432 heart-hand syndrome skos:exactMatch Orphanet:228184 Heart-hand syndrome semapv:UnspecifiedMatching MONDO:0016432 heart-hand syndrome skos:exactMatch UMLS:C5848054 semapv:UnspecifiedMatching MONDO:0016433 dysmorphism-short stature-deafness-disorder of sex development syndrome skos:exactMatch MEDGEN:1383129 semapv:UnspecifiedMatching MONDO:0016433 dysmorphism-short stature-deafness-disorder of sex development syndrome skos:exactMatch Orphanet:2282 Dysmorphism-short stature-deafness-difference of sex development syndrome semapv:UnspecifiedMatching MONDO:0016433 dysmorphism-short stature-deafness-disorder of sex development syndrome skos:exactMatch UMLS:C4518561 semapv:UnspecifiedMatching MONDO:0016434 obsolete acquired dermis elastic tissue disorder skos:exactMatch Orphanet:228218 Acquired dermis elastic tissue disorder semapv:UnspecifiedMatching MONDO:0016435 obsolete acquired dermis elastic tissue disorder with decreased elastic tissue skos:exactMatch Orphanet:228221 Acquired dermis elastic tissue disorder with decreased elastic tissue semapv:UnspecifiedMatching MONDO:0016436 obsolete acquired dermis elastic tissue disorder with increased elastic tissue skos:exactMatch Orphanet:228224 Acquired dermis elastic tissue disorder with increased elastic tissue semapv:UnspecifiedMatching MONDO:0016437 late-onset focal dermal elastosis skos:exactMatch MEDGEN:1658281 semapv:UnspecifiedMatching MONDO:0016437 late-onset focal dermal elastosis skos:exactMatch Orphanet:228227 Late-onset focal dermal elastosis semapv:UnspecifiedMatching MONDO:0016437 late-onset focal dermal elastosis skos:exactMatch UMLS:C4751167 semapv:UnspecifiedMatching MONDO:0016438 linear focal dermal elastosis skos:exactMatch MEDGEN:1666729 semapv:UnspecifiedMatching MONDO:0016438 linear focal dermal elastosis skos:exactMatch Orphanet:228236 Linear focal elastosis semapv:UnspecifiedMatching MONDO:0016438 linear focal dermal elastosis skos:exactMatch UMLS:C4751166 semapv:UnspecifiedMatching MONDO:0016439 elastoderma skos:exactMatch MEDGEN:590504 semapv:UnspecifiedMatching MONDO:0016439 elastoderma skos:exactMatch Orphanet:228240 Elastoderma semapv:UnspecifiedMatching MONDO:0016439 elastoderma skos:exactMatch SCTID:238832003 semapv:UnspecifiedMatching MONDO:0016439 elastoderma skos:exactMatch UMLS:C0406555 semapv:UnspecifiedMatching MONDO:0016439 elastoderma skos:exactMatch icd11.foundation:1880397739 Elastoderma semapv:UnspecifiedMatching MONDO:0016440 elastofibroma dorsi skos:exactMatch MEDGEN:87247 semapv:UnspecifiedMatching MONDO:0016440 elastofibroma dorsi skos:exactMatch NCIT:C4245 Elastofibroma semapv:UnspecifiedMatching MONDO:0016440 elastofibroma dorsi skos:exactMatch Orphanet:228243 Elastofibroma dorsi semapv:UnspecifiedMatching MONDO:0016440 elastofibroma dorsi skos:exactMatch UMLS:C0334460 semapv:UnspecifiedMatching MONDO:0016441 acquired pseudoxanthoma elasticum skos:exactMatch MEDGEN:698082 semapv:UnspecifiedMatching MONDO:0016441 acquired pseudoxanthoma elasticum skos:exactMatch Orphanet:228247 Acquired pseudoxanthoma elasticum semapv:UnspecifiedMatching MONDO:0016441 acquired pseudoxanthoma elasticum skos:exactMatch SCTID:403401007 semapv:UnspecifiedMatching MONDO:0016441 acquired pseudoxanthoma elasticum skos:exactMatch UMLS:C1274759 semapv:UnspecifiedMatching MONDO:0016441 acquired pseudoxanthoma elasticum skos:exactMatch icd11.foundation:2017339816 Acquired pseudoxanthoma elasticum semapv:UnspecifiedMatching MONDO:0016442 elastoma skos:exactMatch MEDGEN:473177 semapv:UnspecifiedMatching MONDO:0016442 elastoma skos:exactMatch Orphanet:228254 Elastoma semapv:UnspecifiedMatching MONDO:0016442 elastoma skos:exactMatch SCTID:239140003 semapv:UnspecifiedMatching MONDO:0016442 elastoma skos:exactMatch UMLS:C0473583 semapv:UnspecifiedMatching MONDO:0016442 elastoma skos:exactMatch icd11.foundation:1464650282 Elastoma semapv:UnspecifiedMatching MONDO:0016443 papular elastorrhexis skos:exactMatch MEDGEN:1813032 semapv:UnspecifiedMatching MONDO:0016443 papular elastorrhexis skos:exactMatch NCIT:C4707 Eruptive Collagenoma semapv:UnspecifiedMatching MONDO:0016443 papular elastorrhexis skos:exactMatch Orphanet:228264 Papular elastorrhexis semapv:UnspecifiedMatching MONDO:0016443 papular elastorrhexis skos:exactMatch SCTID:239138008 semapv:UnspecifiedMatching MONDO:0016443 papular elastorrhexis skos:exactMatch UMLS:C5680907 semapv:UnspecifiedMatching MONDO:0016443 papular elastorrhexis skos:exactMatch icd11.foundation:1231672259 Papular elastorrhexis semapv:UnspecifiedMatching MONDO:0016444 primary anetoderma skos:exactMatch MEDGEN:98029 semapv:UnspecifiedMatching MONDO:0016444 primary anetoderma skos:exactMatch Orphanet:228272 Primary anetoderma semapv:UnspecifiedMatching MONDO:0016444 primary anetoderma skos:exactMatch SCTID:238829001 semapv:UnspecifiedMatching MONDO:0016444 primary anetoderma skos:exactMatch UMLS:C0406550 semapv:UnspecifiedMatching MONDO:0016444 primary anetoderma skos:exactMatch icd11.foundation:308286033 Primary anetoderma semapv:UnspecifiedMatching MONDO:0016444 primary anetoderma skos:exactMatch mesh:D057088 semapv:UnspecifiedMatching MONDO:0016445 familial anetoderma skos:exactMatch MEDGEN:1387956 semapv:UnspecifiedMatching MONDO:0016445 familial anetoderma skos:exactMatch Orphanet:228277 Familial anetoderma semapv:UnspecifiedMatching MONDO:0016445 familial anetoderma skos:exactMatch SCTID:733467001 semapv:UnspecifiedMatching MONDO:0016445 familial anetoderma skos:exactMatch UMLS:C4518793 semapv:UnspecifiedMatching MONDO:0016446 acquired cutis laxa skos:exactMatch MEDGEN:590500 semapv:UnspecifiedMatching MONDO:0016446 acquired cutis laxa skos:exactMatch Orphanet:228285 Acquired cutis laxa semapv:UnspecifiedMatching MONDO:0016446 acquired cutis laxa skos:exactMatch SCTID:19726003 semapv:UnspecifiedMatching MONDO:0016446 acquired cutis laxa skos:exactMatch UMLS:C0406549 semapv:UnspecifiedMatching MONDO:0016446 acquired cutis laxa skos:exactMatch icd11.foundation:807277512 Acquired cutis laxa semapv:UnspecifiedMatching MONDO:0016447 white fibrous papulosis of the neck skos:exactMatch MEDGEN:1647664 semapv:UnspecifiedMatching MONDO:0016447 white fibrous papulosis of the neck skos:exactMatch Orphanet:228290 White fibrous papulosis of the neck semapv:UnspecifiedMatching MONDO:0016447 white fibrous papulosis of the neck skos:exactMatch UMLS:C4706484 semapv:UnspecifiedMatching MONDO:0016447 white fibrous papulosis of the neck skos:exactMatch icd11.foundation:1989852752 White fibrous papulosis of the neck semapv:UnspecifiedMatching MONDO:0016448 pseudoxanthoma elasticum-like papillary dermal elastolysis skos:exactMatch MEDGEN:1638395 semapv:UnspecifiedMatching MONDO:0016448 pseudoxanthoma elasticum-like papillary dermal elastolysis skos:exactMatch Orphanet:228293 Pseudoxanthoma elasticum-like papillary dermal elastolysis semapv:UnspecifiedMatching MONDO:0016448 pseudoxanthoma elasticum-like papillary dermal elastolysis skos:exactMatch SCTID:764105002 semapv:UnspecifiedMatching MONDO:0016448 pseudoxanthoma elasticum-like papillary dermal elastolysis skos:exactMatch UMLS:C4049455 semapv:UnspecifiedMatching MONDO:0016448 pseudoxanthoma elasticum-like papillary dermal elastolysis skos:exactMatch icd11.foundation:704601885 Pseudoxanthoma elasticum-like papillary dermal elastolysis semapv:UnspecifiedMatching MONDO:0016449 mid-dermal elastolysis skos:exactMatch MEDGEN:1672488 semapv:UnspecifiedMatching MONDO:0016449 mid-dermal elastolysis skos:exactMatch Orphanet:228299 Mid-dermal elastolysis semapv:UnspecifiedMatching MONDO:0016449 mid-dermal elastolysis skos:exactMatch UMLS:C4728147 semapv:UnspecifiedMatching MONDO:0016449 mid-dermal elastolysis skos:exactMatch icd11.foundation:1379952112 Mid-dermal elastolysis semapv:UnspecifiedMatching MONDO:0016450 autoimmune hemolytic anemia, cold type skos:exactMatch MEDGEN:104501 semapv:UnspecifiedMatching MONDO:0016450 autoimmune hemolytic anemia, cold type skos:exactMatch Orphanet:228312 Autoimmune hemolytic anemia, cold type semapv:UnspecifiedMatching MONDO:0016450 autoimmune hemolytic anemia, cold type skos:exactMatch UMLS:C0175816 semapv:UnspecifiedMatching MONDO:0016450 autoimmune hemolytic anemia, cold type skos:exactMatch icd11.foundation:1836938544 Autoimmune haemolytic anaemia, cold type semapv:UnspecifiedMatching MONDO:0016451 idiopathic hypersomnia with long sleep time skos:exactMatch ICD10CM:G47.11 Idiopathic hypersomnia with long sleep time semapv:UnspecifiedMatching MONDO:0016451 idiopathic hypersomnia with long sleep time skos:exactMatch MEDGEN:750832 semapv:UnspecifiedMatching MONDO:0016451 idiopathic hypersomnia with long sleep time skos:exactMatch SCTID:442416002 semapv:UnspecifiedMatching MONDO:0016451 idiopathic hypersomnia with long sleep time skos:exactMatch UMLS:C2711059 semapv:UnspecifiedMatching MONDO:0016452 idiopathic hypersomnia without long sleep time skos:exactMatch ICD10CM:G47.12 Idiopathic hypersomnia without long sleep time semapv:UnspecifiedMatching MONDO:0016452 idiopathic hypersomnia without long sleep time skos:exactMatch MEDGEN:736092 semapv:UnspecifiedMatching MONDO:0016452 idiopathic hypersomnia without long sleep time skos:exactMatch SCTID:442292004 semapv:UnspecifiedMatching MONDO:0016452 idiopathic hypersomnia without long sleep time skos:exactMatch UMLS:C1561855 semapv:UnspecifiedMatching MONDO:0016453 foodborne botulism skos:exactMatch DOID:0050352 foodborne botulism semapv:UnspecifiedMatching MONDO:0016453 foodborne botulism skos:exactMatch MEDGEN:320728 semapv:UnspecifiedMatching MONDO:0016453 foodborne botulism skos:exactMatch NCIT:C128341 Foodborne Botulism semapv:UnspecifiedMatching MONDO:0016453 foodborne botulism skos:exactMatch Orphanet:228371 Foodborne botulism semapv:UnspecifiedMatching MONDO:0016453 foodborne botulism skos:exactMatch SCTID:398523009 semapv:UnspecifiedMatching MONDO:0016453 foodborne botulism skos:exactMatch UMLS:C1739094 semapv:UnspecifiedMatching MONDO:0016453 foodborne botulism skos:exactMatch icd11.foundation:2033726602 Foodborne intoxication by botulinum toxin semapv:UnspecifiedMatching MONDO:0016454 Charcot-Marie-Tooth disease type 2B5 skos:exactMatch MEDGEN:1668955 semapv:UnspecifiedMatching MONDO:0016454 Charcot-Marie-Tooth disease type 2B5 skos:exactMatch Orphanet:228374 Charcot-Marie-Tooth disease type 2B5 semapv:UnspecifiedMatching MONDO:0016454 Charcot-Marie-Tooth disease type 2B5 skos:exactMatch UMLS:C4749824 semapv:UnspecifiedMatching MONDO:0016454 Charcot-Marie-Tooth disease type 2B5 skos:exactMatch icd11.foundation:1603286685 Charcot-Marie-Tooth disease type 2B5 semapv:UnspecifiedMatching MONDO:0016455 virus-associated trichodysplasia spinulosa skos:exactMatch MEDGEN:1432798 semapv:UnspecifiedMatching MONDO:0016455 virus-associated trichodysplasia spinulosa skos:exactMatch Orphanet:228379 Virus-associated trichodysplasia spinulosa semapv:UnspecifiedMatching MONDO:0016455 virus-associated trichodysplasia spinulosa skos:exactMatch UMLS:C3267126 semapv:UnspecifiedMatching MONDO:0016456 5q14.3 microdeletion syndrome skos:exactMatch MEDGEN:930198 semapv:UnspecifiedMatching MONDO:0016456 5q14.3 microdeletion syndrome skos:exactMatch Orphanet:228384 5q14.3 microdeletion syndrome semapv:UnspecifiedMatching MONDO:0016456 5q14.3 microdeletion syndrome skos:exactMatch SCTID:719661007 semapv:UnspecifiedMatching MONDO:0016456 5q14.3 microdeletion syndrome skos:exactMatch UMLS:C4304529 semapv:UnspecifiedMatching MONDO:0016457 ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome skos:exactMatch MEDGEN:1378529 semapv:UnspecifiedMatching MONDO:0016457 ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome skos:exactMatch Orphanet:228396 Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome semapv:UnspecifiedMatching MONDO:0016457 ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome skos:exactMatch UMLS:C4510249 semapv:UnspecifiedMatching MONDO:0016458 8q12 microduplication syndrome skos:exactMatch MEDGEN:930173 semapv:UnspecifiedMatching MONDO:0016458 8q12 microduplication syndrome skos:exactMatch Orphanet:228399 8q12 microduplication syndrome semapv:UnspecifiedMatching MONDO:0016458 8q12 microduplication syndrome skos:exactMatch SCTID:719684000 semapv:UnspecifiedMatching MONDO:0016458 8q12 microduplication syndrome skos:exactMatch UMLS:C4304504 semapv:UnspecifiedMatching MONDO:0016459 2q23.1 microdeletion syndrome skos:exactMatch MEDGEN:930201 semapv:UnspecifiedMatching MONDO:0016459 2q23.1 microdeletion syndrome skos:exactMatch Orphanet:228402 2q23.1 microdeletion syndrome semapv:UnspecifiedMatching MONDO:0016459 2q23.1 microdeletion syndrome skos:exactMatch SCTID:719657001 semapv:UnspecifiedMatching MONDO:0016459 2q23.1 microdeletion syndrome skos:exactMatch UMLS:C4304532 semapv:UnspecifiedMatching MONDO:0016460 polyvalvular heart disease syndrome skos:exactMatch MEDGEN:1376905 semapv:UnspecifiedMatching MONDO:0016460 polyvalvular heart disease syndrome skos:exactMatch Orphanet:228410 Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome semapv:UnspecifiedMatching MONDO:0016460 polyvalvular heart disease syndrome skos:exactMatch SCTID:723448007 semapv:UnspecifiedMatching MONDO:0016460 polyvalvular heart disease syndrome skos:exactMatch UMLS:C4509918 semapv:UnspecifiedMatching MONDO:0016461 5q35 microduplication syndrome skos:exactMatch MEDGEN:930195 semapv:UnspecifiedMatching MONDO:0016461 5q35 microduplication syndrome skos:exactMatch Orphanet:228415 5q35 microduplication syndrome semapv:UnspecifiedMatching MONDO:0016461 5q35 microduplication syndrome skos:exactMatch SCTID:719665003 semapv:UnspecifiedMatching MONDO:0016461 5q35 microduplication syndrome skos:exactMatch UMLS:C4304526 semapv:UnspecifiedMatching MONDO:0016462 isolated agammaglobulinemia skos:exactMatch MEDGEN:1639972 semapv:UnspecifiedMatching MONDO:0016462 isolated agammaglobulinemia skos:exactMatch Orphanet:229717 Non-syndromic agammaglobulinemia semapv:UnspecifiedMatching MONDO:0016462 isolated agammaglobulinemia skos:exactMatch SCTID:764858009 semapv:UnspecifiedMatching MONDO:0016462 isolated agammaglobulinemia skos:exactMatch UMLS:C4707181 semapv:UnspecifiedMatching MONDO:0016463 syndromic agammaglobulinemia skos:exactMatch MEDGEN:1843258 semapv:UnspecifiedMatching MONDO:0016463 syndromic agammaglobulinemia skos:exactMatch NCIT:C26931 Hypogammaglobulinemia semapv:UnspecifiedMatching MONDO:0016463 syndromic agammaglobulinemia skos:exactMatch Orphanet:229720 Syndromic agammaglobulinemia semapv:UnspecifiedMatching MONDO:0016463 syndromic agammaglobulinemia skos:exactMatch UMLS:C5680904 semapv:UnspecifiedMatching MONDO:0016464 insulin-resistance syndrome type B skos:exactMatch MEDGEN:574967 semapv:UnspecifiedMatching MONDO:0016464 insulin-resistance syndrome type B skos:exactMatch Orphanet:2298 Insulin-resistance syndrome type B semapv:UnspecifiedMatching MONDO:0016464 insulin-resistance syndrome type B skos:exactMatch UMLS:C0342337 semapv:UnspecifiedMatching MONDO:0016464 insulin-resistance syndrome type B skos:exactMatch icd11.foundation:408487090 Insulin-resistance syndrome type B semapv:UnspecifiedMatching MONDO:0016466 asbestosis skos:exactMatch DOID:10320 asbestosis semapv:UnspecifiedMatching MONDO:0016466 asbestosis skos:exactMatch EFO:0007153 semapv:UnspecifiedMatching MONDO:0016466 asbestosis skos:exactMatch MEDGEN:2462 semapv:UnspecifiedMatching MONDO:0016466 asbestosis skos:exactMatch NCIT:C84573 Asbestosis semapv:UnspecifiedMatching MONDO:0016466 asbestosis skos:exactMatch Orphanet:2302 Asbestos intoxication semapv:UnspecifiedMatching MONDO:0016466 asbestosis skos:exactMatch SCTID:22607003 semapv:UnspecifiedMatching MONDO:0016466 asbestosis skos:exactMatch UMLS:C0003949 semapv:UnspecifiedMatching MONDO:0016466 asbestosis skos:exactMatch icd11.foundation:898495881 Pneumoconiosis due to mineral fibres including asbestos semapv:UnspecifiedMatching MONDO:0016466 asbestosis skos:exactMatch mesh:D001195 semapv:UnspecifiedMatching MONDO:0016467 isotretinoin syndrome skos:exactMatch MEDGEN:419683 semapv:UnspecifiedMatching MONDO:0016467 isotretinoin syndrome skos:exactMatch NCIT:C98929 Fetal Retinoid Syndrome semapv:UnspecifiedMatching MONDO:0016467 isotretinoin syndrome skos:exactMatch Orphanet:2305 Isotretinoin syndrome semapv:UnspecifiedMatching MONDO:0016467 isotretinoin syndrome skos:exactMatch SCTID:36871005 semapv:UnspecifiedMatching MONDO:0016467 isotretinoin syndrome skos:exactMatch UMLS:C2930972 semapv:UnspecifiedMatching MONDO:0016467 isotretinoin syndrome skos:exactMatch mesh:C535670 semapv:UnspecifiedMatching MONDO:0016468 toxin-mediated infectious botulism skos:exactMatch MEDGEN:1842703 semapv:UnspecifiedMatching MONDO:0016468 toxin-mediated infectious botulism skos:exactMatch Orphanet:230800 Toxin-mediated infectious botulism semapv:UnspecifiedMatching MONDO:0016468 toxin-mediated infectious botulism skos:exactMatch UMLS:C5679843 semapv:UnspecifiedMatching MONDO:0016468 toxin-mediated infectious botulism skos:exactMatch icd11.foundation:1373611689 Toxin-mediated infectious botulism semapv:UnspecifiedMatching MONDO:0016469 Ehlers-Danlos syndrome, vascular-like type skos:exactMatch SCTID:720862007 semapv:UnspecifiedMatching MONDO:0016469 Ehlers-Danlos syndrome, vascular-like type skos:exactMatch icd11.foundation:240424885 Ehlers-Danlos syndrome, vascular-like type semapv:UnspecifiedMatching MONDO:0016470 Ehlers-Danlos/osteogenesis imperfecta syndrome skos:exactMatch MEDGEN:1386497 semapv:UnspecifiedMatching MONDO:0016470 Ehlers-Danlos/osteogenesis imperfecta syndrome skos:exactMatch OMIMPS:619115 Combined osteogenesis imperfecta and Ehlers-Danlos syndrome semapv:UnspecifiedMatching MONDO:0016470 Ehlers-Danlos/osteogenesis imperfecta syndrome skos:exactMatch Orphanet:230857 Ehlers-Danlos/osteogenesis imperfecta syndrome semapv:UnspecifiedMatching MONDO:0016470 Ehlers-Danlos/osteogenesis imperfecta syndrome skos:exactMatch UMLS:C4518787 semapv:UnspecifiedMatching MONDO:0016470 Ehlers-Danlos/osteogenesis imperfecta syndrome skos:exactMatch mesh:C565178 semapv:UnspecifiedMatching MONDO:0016471 pachyonychia congenita skos:exactMatch DOID:0050449 pachyonychia congenita semapv:UnspecifiedMatching MONDO:0016471 pachyonychia congenita skos:exactMatch MEDGEN:78556 semapv:UnspecifiedMatching MONDO:0016471 pachyonychia congenita skos:exactMatch NCIT:C84986 Pachyonychia Congenita semapv:UnspecifiedMatching MONDO:0016471 pachyonychia congenita skos:exactMatch OMIMPS:167200 Pachyonychia congenita semapv:UnspecifiedMatching MONDO:0016471 pachyonychia congenita skos:exactMatch Orphanet:2309 Pachyonychia congenita semapv:UnspecifiedMatching MONDO:0016471 pachyonychia congenita skos:exactMatch UMLS:C0265334 semapv:UnspecifiedMatching MONDO:0016471 pachyonychia congenita skos:exactMatch icd11.foundation:1446983705 Pachyonychia congenita semapv:UnspecifiedMatching MONDO:0016471 pachyonychia congenita skos:exactMatch mesh:D053549 semapv:UnspecifiedMatching MONDO:0016472 dracunculiasis skos:exactMatch DOID:14418 dracunculiasis semapv:UnspecifiedMatching MONDO:0016472 dracunculiasis skos:exactMatch EFO:0007241 semapv:UnspecifiedMatching MONDO:0016472 dracunculiasis skos:exactMatch ICD10CM:B72 Dracunculiasis semapv:UnspecifiedMatching MONDO:0016472 dracunculiasis skos:exactMatch ICD10WHO:B72 Dracunculiasis semapv:UnspecifiedMatching MONDO:0016472 dracunculiasis skos:exactMatch MEDGEN:41653 semapv:UnspecifiedMatching MONDO:0016472 dracunculiasis skos:exactMatch NCIT:C84677 Dracunculiasis semapv:UnspecifiedMatching MONDO:0016472 dracunculiasis skos:exactMatch Orphanet:231 Dracunculiasis semapv:UnspecifiedMatching MONDO:0016472 dracunculiasis skos:exactMatch SCTID:396334002 semapv:UnspecifiedMatching MONDO:0016472 dracunculiasis skos:exactMatch UMLS:C0013100 semapv:UnspecifiedMatching MONDO:0016472 dracunculiasis skos:exactMatch icd11.foundation:1662537619 Dracunculiasis semapv:UnspecifiedMatching MONDO:0016472 dracunculiasis skos:exactMatch mesh:D004320 semapv:UnspecifiedMatching MONDO:0016473 familial rhabdoid tumor skos:exactMatch DOID:0070617 rhabdoid tumor predisposition syndrome semapv:UnspecifiedMatching MONDO:0016473 familial rhabdoid tumor skos:exactMatch MEDGEN:457750 semapv:UnspecifiedMatching MONDO:0016473 familial rhabdoid tumor skos:exactMatch NCIT:C93268 Rhabdoid Tumor Predisposition Syndrome semapv:UnspecifiedMatching MONDO:0016473 familial rhabdoid tumor skos:exactMatch OMIMPS:609322 Rhabdoid tumor predisposition syndrome semapv:UnspecifiedMatching MONDO:0016473 familial rhabdoid tumor skos:exactMatch Orphanet:231108 Rhabdoid tumor predisposition syndrome semapv:UnspecifiedMatching MONDO:0016473 familial rhabdoid tumor skos:exactMatch UMLS:C2985524 semapv:UnspecifiedMatching MONDO:0016474 drug-induced lupus erythematosus skos:exactMatch DOID:0040093 drug-induced lupus erythematosus semapv:UnspecifiedMatching MONDO:0016474 drug-induced lupus erythematosus skos:exactMatch MEDGEN:537988 semapv:UnspecifiedMatching MONDO:0016474 drug-induced lupus erythematosus skos:exactMatch NCIT:C114354 Drug Induced Lupus Erythematosus semapv:UnspecifiedMatching MONDO:0016474 drug-induced lupus erythematosus skos:exactMatch Orphanet:231111 Drug-induced lupus erythematosus semapv:UnspecifiedMatching MONDO:0016474 drug-induced lupus erythematosus skos:exactMatch SCTID:80258006 semapv:UnspecifiedMatching MONDO:0016474 drug-induced lupus erythematosus skos:exactMatch UMLS:C0263591 semapv:UnspecifiedMatching MONDO:0016474 drug-induced lupus erythematosus skos:exactMatch icd11.foundation:1239818910 Drug-induced lupus erythematosus semapv:UnspecifiedMatching MONDO:0016475 Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 skos:exactMatch MEDGEN:1842606 semapv:UnspecifiedMatching MONDO:0016475 Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 skos:exactMatch Orphanet:231117 Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 semapv:UnspecifiedMatching MONDO:0016475 Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 skos:exactMatch UMLS:C5680922 semapv:UnspecifiedMatching MONDO:0016476 Beckwith-Wiedemann syndrome due to CDKN1C mutation skos:exactMatch MEDGEN:1826157 semapv:UnspecifiedMatching MONDO:0016476 Beckwith-Wiedemann syndrome due to CDKN1C mutation skos:exactMatch Orphanet:231120 Beckwith-Wiedemann syndrome due to CDKN1C mutation semapv:UnspecifiedMatching MONDO:0016476 Beckwith-Wiedemann syndrome due to CDKN1C mutation skos:exactMatch UMLS:C5680918 semapv:UnspecifiedMatching MONDO:0016477 Beckwith-Wiedemann syndrome due to 11p15 microdeletion skos:exactMatch MEDGEN:1826104 semapv:UnspecifiedMatching MONDO:0016477 Beckwith-Wiedemann syndrome due to 11p15 microdeletion skos:exactMatch Orphanet:231127 Beckwith-Wiedemann syndrome due to 11p15 microdeletion semapv:UnspecifiedMatching MONDO:0016477 Beckwith-Wiedemann syndrome due to 11p15 microdeletion skos:exactMatch UMLS:C5680919 semapv:UnspecifiedMatching MONDO:0016478 Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion skos:exactMatch MEDGEN:1826105 semapv:UnspecifiedMatching MONDO:0016478 Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion skos:exactMatch Orphanet:231130 Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion semapv:UnspecifiedMatching MONDO:0016478 Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion skos:exactMatch UMLS:C5680920 semapv:UnspecifiedMatching MONDO:0016479 silver-Russell syndrome due to 7p11.2p13 microduplication skos:exactMatch MEDGEN:1826059 semapv:UnspecifiedMatching MONDO:0016479 silver-Russell syndrome due to 7p11.2p13 microduplication skos:exactMatch Orphanet:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication semapv:UnspecifiedMatching MONDO:0016479 silver-Russell syndrome due to 7p11.2p13 microduplication skos:exactMatch UMLS:C5679840 semapv:UnspecifiedMatching MONDO:0016480 silver-Russell syndrome due to an imprinting defect of 11p15 skos:exactMatch MEDGEN:1826102 semapv:UnspecifiedMatching MONDO:0016480 silver-Russell syndrome due to an imprinting defect of 11p15 skos:exactMatch Orphanet:231140 Silver-Russell syndrome due to an imprinting defect of 11p15 semapv:UnspecifiedMatching MONDO:0016480 silver-Russell syndrome due to an imprinting defect of 11p15 skos:exactMatch UMLS:C5680916 semapv:UnspecifiedMatching MONDO:0016481 silver-Russell syndrome due to 11p15 microduplication skos:exactMatch MEDGEN:1826103 semapv:UnspecifiedMatching MONDO:0016481 silver-Russell syndrome due to 11p15 microduplication skos:exactMatch Orphanet:231144 Silver-Russell syndrome due to 11p15 microduplication semapv:UnspecifiedMatching MONDO:0016481 silver-Russell syndrome due to 11p15 microduplication skos:exactMatch UMLS:C5680917 semapv:UnspecifiedMatching MONDO:0016482 silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 skos:exactMatch MEDGEN:1843295 semapv:UnspecifiedMatching MONDO:0016482 silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 skos:exactMatch Orphanet:231147 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 semapv:UnspecifiedMatching MONDO:0016482 silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 skos:exactMatch UMLS:C5679841 semapv:UnspecifiedMatching MONDO:0016483 intracranial berry aneurysm skos:exactMatch DOID:0060228 intracranial berry aneurysm semapv:UnspecifiedMatching MONDO:0016483 intracranial berry aneurysm skos:exactMatch MEDGEN:825711 semapv:UnspecifiedMatching MONDO:0016483 intracranial berry aneurysm skos:exactMatch OMIMPS:105800 Aneurysm, intracranial berry semapv:UnspecifiedMatching MONDO:0016483 intracranial berry aneurysm skos:exactMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:UnspecifiedMatching MONDO:0016483 intracranial berry aneurysm skos:exactMatch SCTID:703226008 semapv:UnspecifiedMatching MONDO:0016483 intracranial berry aneurysm skos:exactMatch UMLS:C3839866 semapv:UnspecifiedMatching MONDO:0016483 intracranial berry aneurysm skos:exactMatch icd11.foundation:59881644 Familial cerebral saccular aneurysm semapv:UnspecifiedMatching MONDO:0016484 Usher syndrome type 2 skos:exactMatch DOID:0110827 Usher syndrome type 2 semapv:UnspecifiedMatching MONDO:0016484 Usher syndrome type 2 skos:exactMatch MEDGEN:83288 semapv:UnspecifiedMatching MONDO:0016484 Usher syndrome type 2 skos:exactMatch NCIT:C126328 Usher Syndrome Type 2 semapv:UnspecifiedMatching MONDO:0016484 Usher syndrome type 2 skos:exactMatch Orphanet:231178 Usher syndrome type 2 semapv:UnspecifiedMatching MONDO:0016484 Usher syndrome type 2 skos:exactMatch SCTID:232058008 semapv:UnspecifiedMatching MONDO:0016484 Usher syndrome type 2 skos:exactMatch UMLS:C0339534 semapv:UnspecifiedMatching MONDO:0016484 Usher syndrome type 2 skos:exactMatch icd11.foundation:33632175 Usher syndrome type 2 semapv:UnspecifiedMatching MONDO:0016485 Usher syndrome type 3 skos:exactMatch DOID:0110828 Usher syndrome type 3 semapv:UnspecifiedMatching MONDO:0016485 Usher syndrome type 3 skos:exactMatch MEDGEN:339336 semapv:UnspecifiedMatching MONDO:0016485 Usher syndrome type 3 skos:exactMatch NCIT:C126329 Usher Syndrome Type 3 semapv:UnspecifiedMatching MONDO:0016485 Usher syndrome type 3 skos:exactMatch Orphanet:231183 Usher syndrome type 3 semapv:UnspecifiedMatching MONDO:0016485 Usher syndrome type 3 skos:exactMatch UMLS:C1568248 semapv:UnspecifiedMatching MONDO:0016485 Usher syndrome type 3 skos:exactMatch icd11.foundation:1734357568 Usher syndrome type 3 semapv:UnspecifiedMatching MONDO:0016486 beta-thalassemia major skos:exactMatch DOID:0080771 beta-thalassemia major semapv:UnspecifiedMatching MONDO:0016486 beta-thalassemia major skos:exactMatch MEDGEN:283 semapv:UnspecifiedMatching MONDO:0016486 beta-thalassemia major skos:exactMatch NCIT:C129699 Beta Thalassemia Major semapv:UnspecifiedMatching MONDO:0016486 beta-thalassemia major skos:exactMatch Orphanet:231214 Beta-thalassemia major semapv:UnspecifiedMatching MONDO:0016486 beta-thalassemia major skos:exactMatch SCTID:26682008 semapv:UnspecifiedMatching MONDO:0016486 beta-thalassemia major skos:exactMatch UMLS:C0002875 semapv:UnspecifiedMatching MONDO:0016487 beta-thalassemia intermedia skos:exactMatch DOID:0080772 beta-thalassemia intermedia semapv:UnspecifiedMatching MONDO:0016487 beta-thalassemia intermedia skos:exactMatch MEDGEN:450544 semapv:UnspecifiedMatching MONDO:0016487 beta-thalassemia intermedia skos:exactMatch Orphanet:231222 Beta-thalassemia intermedia semapv:UnspecifiedMatching MONDO:0016487 beta-thalassemia intermedia skos:exactMatch SCTID:191189009 semapv:UnspecifiedMatching MONDO:0016487 beta-thalassemia intermedia skos:exactMatch UMLS:C0472767 semapv:UnspecifiedMatching MONDO:0016488 obsolete beta-thalassemia associated with another hemoglobin anomaly skos:exactMatch Orphanet:231230 Beta-thalassemia associated with another hemoglobin anomaly semapv:UnspecifiedMatching MONDO:0016489 delta-beta-thalassemia skos:exactMatch DOID:0080773 delta beta-thalassemia semapv:UnspecifiedMatching MONDO:0016489 delta-beta-thalassemia skos:exactMatch ICD10CM:D56.2 Delta-beta thalassemia semapv:UnspecifiedMatching MONDO:0016489 delta-beta-thalassemia skos:exactMatch MEDGEN:78790 semapv:UnspecifiedMatching MONDO:0016489 delta-beta-thalassemia skos:exactMatch NCIT:C172823 Delta-Beta Thalassemia semapv:UnspecifiedMatching MONDO:0016489 delta-beta-thalassemia skos:exactMatch Orphanet:231237 Delta-beta-thalassemia semapv:UnspecifiedMatching MONDO:0016489 delta-beta-thalassemia skos:exactMatch SCTID:16360009 semapv:UnspecifiedMatching MONDO:0016489 delta-beta-thalassemia skos:exactMatch UMLS:C0271985 semapv:UnspecifiedMatching MONDO:0016489 delta-beta-thalassemia skos:exactMatch mesh:C562716 semapv:UnspecifiedMatching MONDO:0016490 hemoglobin C-beta-thalassemia syndrome skos:exactMatch MEDGEN:526128 semapv:UnspecifiedMatching MONDO:0016490 hemoglobin C-beta-thalassemia syndrome skos:exactMatch Orphanet:231242 Hemoglobin C-beta-thalassemia syndrome semapv:UnspecifiedMatching MONDO:0016490 hemoglobin C-beta-thalassemia syndrome skos:exactMatch UMLS:C0221020 semapv:UnspecifiedMatching MONDO:0016491 hemoglobin E-beta-thalassemia syndrome skos:exactMatch MEDGEN:632783 semapv:UnspecifiedMatching MONDO:0016491 hemoglobin E-beta-thalassemia syndrome skos:exactMatch Orphanet:231249 Hemoglobin E-beta-thalassemia syndrome semapv:UnspecifiedMatching MONDO:0016491 hemoglobin E-beta-thalassemia syndrome skos:exactMatch UMLS:C0472777 semapv:UnspecifiedMatching MONDO:0016492 obsolete beta-thalassemia with other manifestations skos:exactMatch Orphanet:231386 Beta-thalassemia with other manifestations semapv:UnspecifiedMatching MONDO:0016493 obsolete variant of Guillain-Barre syndrome skos:exactMatch Orphanet:231413 Variant of Guillain-Barré syndrome semapv:UnspecifiedMatching MONDO:0016494 obsolete regional variant of Guillain-Barre syndrome skos:exactMatch Orphanet:231416 Regional variant of Guillain-Barré syndrome semapv:UnspecifiedMatching MONDO:0016495 obsolete functional variant of Guillain-Barre syndrome skos:exactMatch Orphanet:231419 Functional variant of Guillain-Barré syndrome semapv:UnspecifiedMatching MONDO:0016496 pharyngeal-cervical-brachial variant of Guillain-Barre syndrome skos:exactMatch MEDGEN:1682775 semapv:UnspecifiedMatching MONDO:0016496 pharyngeal-cervical-brachial variant of Guillain-Barre syndrome skos:exactMatch Orphanet:231426 Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome semapv:UnspecifiedMatching MONDO:0016496 pharyngeal-cervical-brachial variant of Guillain-Barre syndrome skos:exactMatch UMLS:C5190783 semapv:UnspecifiedMatching MONDO:0016497 paraparetic variant of Guillain-Barre syndrome skos:exactMatch MEDGEN:1644763 semapv:UnspecifiedMatching MONDO:0016497 paraparetic variant of Guillain-Barre syndrome skos:exactMatch Orphanet:231445 Paraparetic variant of Guillain-Barré syndrome semapv:UnspecifiedMatching MONDO:0016497 paraparetic variant of Guillain-Barre syndrome skos:exactMatch UMLS:C4707803 semapv:UnspecifiedMatching MONDO:0016498 acute pure sensory neuropathy skos:exactMatch MEDGEN:1682724 semapv:UnspecifiedMatching MONDO:0016498 acute pure sensory neuropathy skos:exactMatch Orphanet:231450 Acute pure sensory neuropathy semapv:UnspecifiedMatching MONDO:0016498 acute pure sensory neuropathy skos:exactMatch UMLS:C5190881 semapv:UnspecifiedMatching MONDO:0016499 autoimmune autonomic ganglionopathy skos:exactMatch MEDGEN:746161 semapv:UnspecifiedMatching MONDO:0016499 autoimmune autonomic ganglionopathy skos:exactMatch Orphanet:231457 Acute pandysautonomia semapv:UnspecifiedMatching MONDO:0016499 autoimmune autonomic ganglionopathy skos:exactMatch SCTID:430042004 semapv:UnspecifiedMatching MONDO:0016499 autoimmune autonomic ganglionopathy skos:exactMatch UMLS:C2315246 semapv:UnspecifiedMatching MONDO:0016500 acute sensory ataxic neuropathy skos:exactMatch MEDGEN:1641312 semapv:UnspecifiedMatching MONDO:0016500 acute sensory ataxic neuropathy skos:exactMatch Orphanet:231466 Acute sensory ataxic neuropathy semapv:UnspecifiedMatching MONDO:0016500 acute sensory ataxic neuropathy skos:exactMatch SCTID:766049000 semapv:UnspecifiedMatching MONDO:0016500 acute sensory ataxic neuropathy skos:exactMatch UMLS:C4707661 semapv:UnspecifiedMatching MONDO:0016500 acute sensory ataxic neuropathy skos:exactMatch icd11.foundation:1951716831 Acute sensory ataxic neuropathy semapv:UnspecifiedMatching MONDO:0016501 Hermansky-Pudlak syndrome with pulmonary fibrosis skos:exactMatch MEDGEN:1843223 semapv:UnspecifiedMatching MONDO:0016501 Hermansky-Pudlak syndrome with pulmonary fibrosis skos:exactMatch Orphanet:231500 Hermansky-Pudlak syndrome due to BLOC-3 deficiency semapv:UnspecifiedMatching MONDO:0016501 Hermansky-Pudlak syndrome with pulmonary fibrosis skos:exactMatch UMLS:C5679834 semapv:UnspecifiedMatching MONDO:0016501 Hermansky-Pudlak syndrome with pulmonary fibrosis skos:exactMatch icd11.foundation:1086187623 Hermansky-Pudlak syndrome with pulmonary fibrosis semapv:UnspecifiedMatching MONDO:0016502 Hermansky-Pudlak syndrome without pulmonary fibrosis skos:exactMatch MEDGEN:1842321 semapv:UnspecifiedMatching MONDO:0016502 Hermansky-Pudlak syndrome without pulmonary fibrosis skos:exactMatch Orphanet:231512 Hermansky-Pudlak syndrome due to BLOC-2 deficiency semapv:UnspecifiedMatching MONDO:0016502 Hermansky-Pudlak syndrome without pulmonary fibrosis skos:exactMatch UMLS:C5679833 semapv:UnspecifiedMatching MONDO:0016502 Hermansky-Pudlak syndrome without pulmonary fibrosis skos:exactMatch icd11.foundation:1363499932 Hermansky-Pudlak syndrome without pulmonary fibrosis semapv:UnspecifiedMatching MONDO:0016503 congenital erosive and vesicular dermatosis skos:exactMatch MEDGEN:1669240 semapv:UnspecifiedMatching MONDO:0016503 congenital erosive and vesicular dermatosis skos:exactMatch Orphanet:231573 Congenital erosive and vesicular dermatosis semapv:UnspecifiedMatching MONDO:0016503 congenital erosive and vesicular dermatosis skos:exactMatch UMLS:C4751164 semapv:UnspecifiedMatching MONDO:0016503 congenital erosive and vesicular dermatosis skos:exactMatch icd11.foundation:2106762282 Congenital erosive or vesicular dermatosis healing with reticulated supple scarring semapv:UnspecifiedMatching MONDO:0016504 primary unilateral adrenal hyperplasia skos:exactMatch MEDGEN:905007 semapv:UnspecifiedMatching MONDO:0016504 primary unilateral adrenal hyperplasia skos:exactMatch Orphanet:231580 Primary unilateral adrenal hyperplasia semapv:UnspecifiedMatching MONDO:0016504 primary unilateral adrenal hyperplasia skos:exactMatch SCTID:715868005 semapv:UnspecifiedMatching MONDO:0016504 primary unilateral adrenal hyperplasia skos:exactMatch UMLS:C4274967 semapv:UnspecifiedMatching MONDO:0016504 primary unilateral adrenal hyperplasia skos:exactMatch icd11.foundation:1653668765 Primary unilateral adrenal hyperplasia semapv:UnspecifiedMatching MONDO:0016505 aldosterone-producing adrenal cortex adenoma skos:exactMatch EFO:1000015 semapv:UnspecifiedMatching MONDO:0016505 aldosterone-producing adrenal cortex adenoma skos:exactMatch MEDGEN:353374 semapv:UnspecifiedMatching MONDO:0016505 aldosterone-producing adrenal cortex adenoma skos:exactMatch NCIT:C48451 Aldosterone-Producing Adrenal Cortical Adenoma semapv:UnspecifiedMatching MONDO:0016505 aldosterone-producing adrenal cortex adenoma skos:exactMatch Orphanet:231625 Adrenocortical carcinoma with pure aldosterone hypersecretion semapv:UnspecifiedMatching MONDO:0016505 aldosterone-producing adrenal cortex adenoma skos:exactMatch UMLS:C1706762 semapv:UnspecifiedMatching MONDO:0016506 ectopic aldosterone-producing tumor skos:exactMatch MEDGEN:1654612 semapv:UnspecifiedMatching MONDO:0016506 ectopic aldosterone-producing tumor skos:exactMatch Orphanet:231632 Ectopic aldosterone-producing tumor semapv:UnspecifiedMatching MONDO:0016506 ectopic aldosterone-producing tumor skos:exactMatch UMLS:C4755311 semapv:UnspecifiedMatching MONDO:0016507 obsolete rare surgically correctable form of primary aldosteronism skos:exactMatch Orphanet:231637 Rare surgically correctable form of primary aldosteronism semapv:UnspecifiedMatching MONDO:0016508 obsolete rare non surgically correctable form of primary aldosteronism skos:exactMatch Orphanet:231641 Rare non surgically correctable form of primary aldosteronism semapv:UnspecifiedMatching MONDO:0016509 microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome skos:exactMatch MEDGEN:1667341 semapv:UnspecifiedMatching MONDO:0016509 microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome skos:exactMatch Orphanet:231736 Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome semapv:UnspecifiedMatching MONDO:0016509 microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome skos:exactMatch UMLS:C4751163 semapv:UnspecifiedMatching MONDO:0016510 epibulbar lipodermoid-preauricular appendage-polythelia syndrome skos:exactMatch MEDGEN:1808551 semapv:UnspecifiedMatching MONDO:0016510 epibulbar lipodermoid-preauricular appendage-polythelia syndrome skos:exactMatch Orphanet:231742 Epibulbar lipodermoid-preauricular appendage-polythelia syndrome semapv:UnspecifiedMatching MONDO:0016510 epibulbar lipodermoid-preauricular appendage-polythelia syndrome skos:exactMatch UMLS:C5680927 semapv:UnspecifiedMatching MONDO:0016511 infectious embryofetopathy skos:exactMatch MEDGEN:1736309 semapv:UnspecifiedMatching MONDO:0016511 infectious embryofetopathy skos:exactMatch Orphanet:232035 Infectious embryofetopathy semapv:UnspecifiedMatching MONDO:0016511 infectious embryofetopathy skos:exactMatch UMLS:C5439342 semapv:UnspecifiedMatching MONDO:0016512 Kabuki syndrome skos:exactMatch DOID:0060473 Kabuki syndrome semapv:UnspecifiedMatching MONDO:0016512 Kabuki syndrome skos:exactMatch MEDGEN:162897 semapv:UnspecifiedMatching MONDO:0016512 Kabuki syndrome skos:exactMatch NCIT:C124837 Kabuki Syndrome semapv:UnspecifiedMatching MONDO:0016512 Kabuki syndrome skos:exactMatch OMIMPS:147920 Kabuki syndrome semapv:UnspecifiedMatching MONDO:0016512 Kabuki syndrome skos:exactMatch Orphanet:2322 Kabuki syndrome semapv:UnspecifiedMatching MONDO:0016512 Kabuki syndrome skos:exactMatch SCTID:313426007 semapv:UnspecifiedMatching MONDO:0016512 Kabuki syndrome skos:exactMatch UMLS:C0796004 semapv:UnspecifiedMatching MONDO:0016512 Kabuki syndrome skos:exactMatch icd11.foundation:1104246467 Kabuki syndrome semapv:UnspecifiedMatching MONDO:0016512 Kabuki syndrome skos:exactMatch mesh:C537705 semapv:UnspecifiedMatching MONDO:0016513 obsolete alpha-thalassemia-related diseases skos:exactMatch Orphanet:232288 Syndrome with alpha-thalassemia as a major feature semapv:UnspecifiedMatching MONDO:0016514 epidermolysis bullosa simplex with anodontia/hypodontia skos:exactMatch MEDGEN:609450 semapv:UnspecifiedMatching MONDO:0016514 epidermolysis bullosa simplex with anodontia/hypodontia skos:exactMatch Orphanet:2325 Epidermolysis bullosa simplex with anodontia/hypodontia semapv:UnspecifiedMatching MONDO:0016514 epidermolysis bullosa simplex with anodontia/hypodontia skos:exactMatch UMLS:C0432313 semapv:UnspecifiedMatching MONDO:0016515 Kallmann syndrome-heart disease syndrome skos:exactMatch MEDGEN:928566 semapv:UnspecifiedMatching MONDO:0016515 Kallmann syndrome-heart disease syndrome skos:exactMatch Orphanet:2326 Kallmann syndrome-heart disease syndrome semapv:UnspecifiedMatching MONDO:0016515 Kallmann syndrome-heart disease syndrome skos:exactMatch UMLS:C4302897 semapv:UnspecifiedMatching MONDO:0016516 Kenny-Caffey syndrome skos:exactMatch DOID:0080724 Kenny-Caffey syndrome semapv:UnspecifiedMatching MONDO:0016516 Kenny-Caffey syndrome skos:exactMatch MEDGEN:75560 semapv:UnspecifiedMatching MONDO:0016516 Kenny-Caffey syndrome skos:exactMatch NCIT:C130991 Kenny-Caffey Syndrome semapv:UnspecifiedMatching MONDO:0016516 Kenny-Caffey syndrome skos:exactMatch OMIMPS:127000 Kenny-Caffey syndrome semapv:UnspecifiedMatching MONDO:0016516 Kenny-Caffey syndrome skos:exactMatch Orphanet:2333 Kenny-Caffey syndrome semapv:UnspecifiedMatching MONDO:0016516 Kenny-Caffey syndrome skos:exactMatch SCTID:82837002 semapv:UnspecifiedMatching MONDO:0016516 Kenny-Caffey syndrome skos:exactMatch UMLS:C0265291 semapv:UnspecifiedMatching MONDO:0016516 Kenny-Caffey syndrome skos:exactMatch mesh:C537020 semapv:UnspecifiedMatching MONDO:0016517 obsolete rare genetic vascular disease skos:exactMatch Orphanet:233655 Rare genetic vascular disease semapv:UnspecifiedMatching MONDO:0016518 obsolete isolated punctate palmoplantar keratoderma skos:exactMatch Orphanet:2338 Isolated punctate palmoplantar keratoderma semapv:UnspecifiedMatching MONDO:0016521 muscular pseudohypertrophy-hypothyroidism syndrome skos:exactMatch MEDGEN:82860 semapv:UnspecifiedMatching MONDO:0016521 muscular pseudohypertrophy-hypothyroidism syndrome skos:exactMatch Orphanet:2349 Muscular pseudohypertrophy-hypothyroidism syndrome semapv:UnspecifiedMatching MONDO:0016521 muscular pseudohypertrophy-hypothyroidism syndrome skos:exactMatch SCTID:716338001 semapv:UnspecifiedMatching MONDO:0016521 muscular pseudohypertrophy-hypothyroidism syndrome skos:exactMatch UMLS:C0270958 semapv:UnspecifiedMatching MONDO:0016522 Kousseff syndrome skos:exactMatch MEDGEN:444057 semapv:UnspecifiedMatching MONDO:0016522 Kousseff syndrome skos:exactMatch Orphanet:2351 Kousseff syndrome semapv:UnspecifiedMatching MONDO:0016522 Kousseff syndrome skos:exactMatch SCTID:726083008 semapv:UnspecifiedMatching MONDO:0016522 Kousseff syndrome skos:exactMatch UMLS:C2931444 semapv:UnspecifiedMatching MONDO:0016522 Kousseff syndrome skos:exactMatch mesh:C537223 semapv:UnspecifiedMatching MONDO:0016523 bronchogenic cyst skos:exactMatch MEDGEN:668 semapv:UnspecifiedMatching MONDO:0016523 bronchogenic cyst skos:exactMatch Orphanet:2357 Bronchogenic cyst semapv:UnspecifiedMatching MONDO:0016523 bronchogenic cyst skos:exactMatch UMLS:C0006281 semapv:UnspecifiedMatching MONDO:0016523 bronchogenic cyst skos:exactMatch icd11.foundation:355400995 Bronchogenic cyst semapv:UnspecifiedMatching MONDO:0016523 bronchogenic cyst skos:exactMatch mesh:D001994 semapv:UnspecifiedMatching MONDO:0016524 obsolete congenital vascular bone syndrome skos:exactMatch Orphanet:235832 Congenital vascular bone syndrome semapv:UnspecifiedMatching MONDO:0016524 obsolete congenital vascular bone syndrome skos:exactMatch icd11.foundation:825559961 Congenital vascular bone syndromes semapv:UnspecifiedMatching MONDO:0016525 familial hyperaldosteronism skos:exactMatch MEDGEN:780028 semapv:UnspecifiedMatching MONDO:0016525 familial hyperaldosteronism skos:exactMatch NCIT:C127160 Familial Hyperaldosteronism semapv:UnspecifiedMatching MONDO:0016525 familial hyperaldosteronism skos:exactMatch OMIMPS:103900 Hyperaldosteronism semapv:UnspecifiedMatching MONDO:0016525 familial hyperaldosteronism skos:exactMatch Orphanet:235936 Familial hyperaldosteronism semapv:UnspecifiedMatching MONDO:0016525 familial hyperaldosteronism skos:exactMatch Orphanet:371861 Genetic hyperaldosteronism semapv:UnspecifiedMatching MONDO:0016525 familial hyperaldosteronism skos:exactMatch SCTID:703231005 semapv:UnspecifiedMatching MONDO:0016525 familial hyperaldosteronism skos:exactMatch UMLS:C3713420 semapv:UnspecifiedMatching MONDO:0016525 familial hyperaldosteronism skos:exactMatch icd11.foundation:1586992015 Familial hyperaldosteronism semapv:UnspecifiedMatching MONDO:0016525 familial hyperaldosteronism skos:exactMatch mesh:C580087 semapv:UnspecifiedMatching MONDO:0016526 trisomy 9p skos:exactMatch MEDGEN:120539 semapv:UnspecifiedMatching MONDO:0016526 trisomy 9p skos:exactMatch Orphanet:236 Trisomy 9p syndrome semapv:UnspecifiedMatching MONDO:0016526 trisomy 9p skos:exactMatch Orphanet:262767 Partial duplication/triplication of the short arm of chromosome 9 syndrome semapv:UnspecifiedMatching MONDO:0016526 trisomy 9p skos:exactMatch UMLS:C0265428 semapv:UnspecifiedMatching MONDO:0016526 trisomy 9p skos:exactMatch icd11.foundation:1126301219 Duplications of the short arm of chromosome 9 semapv:UnspecifiedMatching MONDO:0016527 glycogen storage disease due to lactate dehydrogenase deficiency skos:exactMatch MEDGEN:1805539 semapv:UnspecifiedMatching MONDO:0016527 glycogen storage disease due to lactate dehydrogenase deficiency skos:exactMatch Orphanet:2364 Glycogen storage disease due to lactate dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0016527 glycogen storage disease due to lactate dehydrogenase deficiency skos:exactMatch UMLS:C5575057 semapv:UnspecifiedMatching MONDO:0016527 glycogen storage disease due to lactate dehydrogenase deficiency skos:exactMatch icd11.foundation:1092207912 Glycogen storage disease due to lactate dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0016527 glycogen storage disease due to lactate dehydrogenase deficiency skos:exactMatch mesh:C580233 semapv:UnspecifiedMatching MONDO:0016528 limb body wall complex skos:exactMatch MEDGEN:906212 semapv:UnspecifiedMatching MONDO:0016528 limb body wall complex skos:exactMatch Orphanet:2369 Limb body wall complex semapv:UnspecifiedMatching MONDO:0016528 limb body wall complex skos:exactMatch SCTID:716106000 semapv:UnspecifiedMatching MONDO:0016528 limb body wall complex skos:exactMatch UMLS:C4274839 semapv:UnspecifiedMatching MONDO:0016528 limb body wall complex skos:exactMatch icd11.foundation:353005375 Limb body wall complex semapv:UnspecifiedMatching MONDO:0016529 duplication of urethra skos:exactMatch MEDGEN:75609 semapv:UnspecifiedMatching MONDO:0016529 duplication of urethra skos:exactMatch Orphanet:237 Duplication of urethra semapv:UnspecifiedMatching MONDO:0016529 duplication of urethra skos:exactMatch SCTID:69015003 semapv:UnspecifiedMatching MONDO:0016529 duplication of urethra skos:exactMatch UMLS:C0266348 semapv:UnspecifiedMatching MONDO:0016529 duplication of urethra skos:exactMatch icd11.foundation:2069509755 Duplication of urethra semapv:UnspecifiedMatching MONDO:0016530 laryngocele skos:exactMatch ICD10CM:Q31.3 Laryngocele semapv:UnspecifiedMatching MONDO:0016530 laryngocele skos:exactMatch MEDGEN:452345 semapv:UnspecifiedMatching MONDO:0016530 laryngocele skos:exactMatch NCIT:C97062 Laryngocele semapv:UnspecifiedMatching MONDO:0016530 laryngocele skos:exactMatch Orphanet:2372 Laryngocele semapv:UnspecifiedMatching MONDO:0016530 laryngocele skos:exactMatch SCTID:51523009 semapv:UnspecifiedMatching MONDO:0016530 laryngocele skos:exactMatch UMLS:C0265761 semapv:UnspecifiedMatching MONDO:0016530 laryngocele skos:exactMatch icd11.foundation:360056769 Laryngocele semapv:UnspecifiedMatching MONDO:0016530 laryngocele skos:exactMatch mesh:D059608 semapv:UnspecifiedMatching MONDO:0016531 digestive duplication skos:exactMatch MEDGEN:451018 semapv:UnspecifiedMatching MONDO:0016531 digestive duplication skos:exactMatch UMLS:C0266019 semapv:UnspecifiedMatching MONDO:0016532 Lennox-Gastaut syndrome skos:exactMatch DOID:0050561 Lennox-Gastaut syndrome semapv:UnspecifiedMatching MONDO:0016532 Lennox-Gastaut syndrome skos:exactMatch ICD10CM:G40.81 Lennox-Gastaut syndrome semapv:UnspecifiedMatching MONDO:0016532 Lennox-Gastaut syndrome skos:exactMatch MEDGEN:116044 semapv:UnspecifiedMatching MONDO:0016532 Lennox-Gastaut syndrome skos:exactMatch NCIT:C84816 Lennox-Gastaut Syndrome semapv:UnspecifiedMatching MONDO:0016532 Lennox-Gastaut syndrome skos:exactMatch OMIM:606369 macrocephaly and epileptic encephalopathy semapv:UnspecifiedMatching MONDO:0016532 Lennox-Gastaut syndrome skos:exactMatch Orphanet:2382 Lennox-Gastaut syndrome semapv:UnspecifiedMatching MONDO:0016532 Lennox-Gastaut syndrome skos:exactMatch SCTID:230418006 semapv:UnspecifiedMatching MONDO:0016532 Lennox-Gastaut syndrome skos:exactMatch UMLS:C0238111 semapv:UnspecifiedMatching MONDO:0016532 Lennox-Gastaut syndrome skos:exactMatch icd11.foundation:651135242 Lennox-Gastaut syndrome semapv:UnspecifiedMatching MONDO:0016532 Lennox-Gastaut syndrome skos:exactMatch mesh:D065768 semapv:UnspecifiedMatching MONDO:0016533 apolipoprotein A-II amyloidosis skos:exactMatch MEDGEN:1842484 semapv:UnspecifiedMatching MONDO:0016533 apolipoprotein A-II amyloidosis skos:exactMatch Orphanet:238269 AApoAII amyloidosis semapv:UnspecifiedMatching MONDO:0016533 apolipoprotein A-II amyloidosis skos:exactMatch UMLS:C5679845 semapv:UnspecifiedMatching MONDO:0016534 infundibulo-neurohypophysitis skos:exactMatch MEDGEN:1683829 semapv:UnspecifiedMatching MONDO:0016534 infundibulo-neurohypophysitis skos:exactMatch Orphanet:238305 Infundibulo-neurohypophysitis semapv:UnspecifiedMatching MONDO:0016534 infundibulo-neurohypophysitis skos:exactMatch UMLS:C5190834 semapv:UnspecifiedMatching MONDO:0016535 hypohidrotic ectodermal dysplasia skos:exactMatch DOID:14793 hypohidrotic ectodermal dysplasia semapv:UnspecifiedMatching MONDO:0016535 hypohidrotic ectodermal dysplasia skos:exactMatch MEDGEN:1853123 semapv:UnspecifiedMatching MONDO:0016535 hypohidrotic ectodermal dysplasia skos:exactMatch NCIT:C84562 Anhidrotic Ectodermal Dysplasia 1 semapv:UnspecifiedMatching MONDO:0016535 hypohidrotic ectodermal dysplasia skos:exactMatch Orphanet:238468 Hypohidrotic ectodermal dysplasia semapv:UnspecifiedMatching MONDO:0016535 hypohidrotic ectodermal dysplasia skos:exactMatch UMLS:C5848103 semapv:UnspecifiedMatching MONDO:0016535 hypohidrotic ectodermal dysplasia skos:exactMatch icd11.foundation:673167184 Hypohidrotic ectodermal dysplasia semapv:UnspecifiedMatching MONDO:0016537 lymphoproliferative syndrome skos:exactMatch DOID:0060704 lymphoproliferative syndrome semapv:UnspecifiedMatching MONDO:0016537 lymphoproliferative syndrome skos:exactMatch MEDGEN:6162 semapv:UnspecifiedMatching MONDO:0016537 lymphoproliferative syndrome skos:exactMatch NCIT:C9308 Lymphoproliferative Disorder semapv:UnspecifiedMatching MONDO:0016537 lymphoproliferative syndrome skos:exactMatch OMIMPS:308240 Lymphoproliferative syndrome semapv:UnspecifiedMatching MONDO:0016537 lymphoproliferative syndrome skos:exactMatch SCTID:277466009 semapv:UnspecifiedMatching MONDO:0016537 lymphoproliferative syndrome skos:exactMatch UMLS:C0024314 semapv:UnspecifiedMatching MONDO:0016537 lymphoproliferative syndrome skos:exactMatch mesh:D008232 semapv:UnspecifiedMatching MONDO:0016539 atypical hypotonia-cystinuria syndrome skos:exactMatch MEDGEN:1668791 semapv:UnspecifiedMatching MONDO:0016539 atypical hypotonia-cystinuria syndrome skos:exactMatch Orphanet:238523 Atypical hypotonia-cystinuria syndrome semapv:UnspecifiedMatching MONDO:0016539 atypical hypotonia-cystinuria syndrome skos:exactMatch UMLS:C4755274 semapv:UnspecifiedMatching MONDO:0016539 atypical hypotonia-cystinuria syndrome skos:exactMatch icd11.foundation:1982772708 Atypical hypotonia-cystinuria syndrome semapv:UnspecifiedMatching MONDO:0016540 congenital secondary polycythemia skos:exactMatch MEDGEN:1843354 semapv:UnspecifiedMatching MONDO:0016540 congenital secondary polycythemia skos:exactMatch Orphanet:238536 Congenital secondary polycythemia semapv:UnspecifiedMatching MONDO:0016540 congenital secondary polycythemia skos:exactMatch UMLS:C5679848 semapv:UnspecifiedMatching MONDO:0016541 acquired secondary polycythemia skos:exactMatch Orphanet:238547 Acquired secondary polycythemia semapv:UnspecifiedMatching MONDO:0016542 IL10-related early-onset inflammatory bowel disease skos:exactMatch MEDGEN:1661450 semapv:UnspecifiedMatching MONDO:0016542 IL10-related early-onset inflammatory bowel disease skos:exactMatch Orphanet:238569 Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome semapv:UnspecifiedMatching MONDO:0016542 IL10-related early-onset inflammatory bowel disease skos:exactMatch UMLS:C4749850 semapv:UnspecifiedMatching MONDO:0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency skos:exactMatch MEDGEN:199656 semapv:UnspecifiedMatching MONDO:0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency skos:exactMatch Orphanet:238583 Hyperphenylalaninemia due to tetrahydrobiopterin deficiency semapv:UnspecifiedMatching MONDO:0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency skos:exactMatch SCTID:68528007 semapv:UnspecifiedMatching MONDO:0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency skos:exactMatch UMLS:C0751436 semapv:UnspecifiedMatching MONDO:0016544 IgG4-related mesenteritis skos:exactMatch MEDGEN:75639 semapv:UnspecifiedMatching MONDO:0016544 IgG4-related mesenteritis skos:exactMatch Orphanet:238593 IgG4-related mesenteritis semapv:UnspecifiedMatching MONDO:0016544 IgG4-related mesenteritis skos:exactMatch SCTID:1092381000119100 semapv:UnspecifiedMatching MONDO:0016544 IgG4-related mesenteritis skos:exactMatch UMLS:C0267770 semapv:UnspecifiedMatching MONDO:0016544 IgG4-related mesenteritis skos:exactMatch icd11.foundation:1312565896 IgG4-related mesenteritis semapv:UnspecifiedMatching MONDO:0016545 leukoencephalopathy-palmoplantar keratoderma syndrome skos:exactMatch MEDGEN:1652044 semapv:UnspecifiedMatching MONDO:0016545 leukoencephalopathy-palmoplantar keratoderma syndrome skos:exactMatch Orphanet:2386 Leukoencephalopathy-palmoplantar keratoderma syndrome semapv:UnspecifiedMatching MONDO:0016545 leukoencephalopathy-palmoplantar keratoderma syndrome skos:exactMatch UMLS:C4749769 semapv:UnspecifiedMatching MONDO:0016546 primary orthostatic tremor skos:exactMatch MEDGEN:164206 semapv:UnspecifiedMatching MONDO:0016546 primary orthostatic tremor skos:exactMatch Orphanet:238606 Primary orthostatic tremor semapv:UnspecifiedMatching MONDO:0016546 primary orthostatic tremor skos:exactMatch SCTID:715902009 semapv:UnspecifiedMatching MONDO:0016546 primary orthostatic tremor skos:exactMatch UMLS:C0878578 semapv:UnspecifiedMatching MONDO:0016546 primary orthostatic tremor skos:exactMatch mesh:C536418 semapv:UnspecifiedMatching MONDO:0016547 Beckwith-Wiedemann syndrome due to NSD1 mutation skos:exactMatch MEDGEN:1825953 semapv:UnspecifiedMatching MONDO:0016547 Beckwith-Wiedemann syndrome due to NSD1 mutation skos:exactMatch Orphanet:238613 Beckwith-Wiedemann syndrome due to NSD1 mutation semapv:UnspecifiedMatching MONDO:0016547 Beckwith-Wiedemann syndrome due to NSD1 mutation skos:exactMatch UMLS:C5680933 semapv:UnspecifiedMatching MONDO:0016548 megacystis-megaureter syndrome skos:exactMatch MEDGEN:609133 semapv:UnspecifiedMatching MONDO:0016548 megacystis-megaureter syndrome skos:exactMatch Orphanet:238637 Megacystis-megaureter syndrome semapv:UnspecifiedMatching MONDO:0016548 megacystis-megaureter syndrome skos:exactMatch SCTID:253904001 semapv:UnspecifiedMatching MONDO:0016548 megacystis-megaureter syndrome skos:exactMatch UMLS:C0431752 semapv:UnspecifiedMatching MONDO:0016548 megacystis-megaureter syndrome skos:exactMatch icd11.foundation:1872503107 Megacystis-megaureter semapv:UnspecifiedMatching MONDO:0016549 primary megaureter, adult-onset form skos:exactMatch MEDGEN:1842492 semapv:UnspecifiedMatching MONDO:0016549 primary megaureter, adult-onset form skos:exactMatch Orphanet:238642 Primary megaureter, adult-onset form semapv:UnspecifiedMatching MONDO:0016549 primary megaureter, adult-onset form skos:exactMatch UMLS:C5680937 semapv:UnspecifiedMatching MONDO:0016550 congenital primary megaureter, obstructed form skos:exactMatch MEDGEN:1842695 semapv:UnspecifiedMatching MONDO:0016550 congenital primary megaureter, obstructed form skos:exactMatch Orphanet:238646 Congenital primary megaureter, obstructed form semapv:UnspecifiedMatching MONDO:0016550 congenital primary megaureter, obstructed form skos:exactMatch UMLS:C5680936 semapv:UnspecifiedMatching MONDO:0016550 congenital primary megaureter, obstructed form skos:exactMatch icd11.foundation:342813504 Congenital primary megaureter, obstructed form semapv:UnspecifiedMatching MONDO:0016551 congenital primary megaureter, refluxing form skos:exactMatch MEDGEN:1842549 semapv:UnspecifiedMatching MONDO:0016551 congenital primary megaureter, refluxing form skos:exactMatch Orphanet:238650 Congenital primary megaureter, refluxing form semapv:UnspecifiedMatching MONDO:0016551 congenital primary megaureter, refluxing form skos:exactMatch UMLS:C5680935 semapv:UnspecifiedMatching MONDO:0016551 congenital primary megaureter, refluxing form skos:exactMatch icd11.foundation:1229028805 Congenital primary megaureter, refluxing form semapv:UnspecifiedMatching MONDO:0016552 congenital primary megaureter, nonrefluxing and unobstructed form skos:exactMatch MEDGEN:1843330 semapv:UnspecifiedMatching MONDO:0016552 congenital primary megaureter, nonrefluxing and unobstructed form skos:exactMatch Orphanet:238654 Congenital primary megaureter, nonrefluxing and unobstructed form semapv:UnspecifiedMatching MONDO:0016552 congenital primary megaureter, nonrefluxing and unobstructed form skos:exactMatch UMLS:C5680934 semapv:UnspecifiedMatching MONDO:0016552 congenital primary megaureter, nonrefluxing and unobstructed form skos:exactMatch icd11.foundation:1090144962 Congenital primary megaureter, nonrefluxing and unobstructed form semapv:UnspecifiedMatching MONDO:0016553 isolated congenital hypogonadotropic hypogonadism skos:exactMatch MEDGEN:1842176 semapv:UnspecifiedMatching MONDO:0016553 isolated congenital hypogonadotropic hypogonadism skos:exactMatch Orphanet:238666 Isolated congenital hypogonadotropic hypogonadism semapv:UnspecifiedMatching MONDO:0016553 isolated congenital hypogonadotropic hypogonadism skos:exactMatch UMLS:C5679849 semapv:UnspecifiedMatching MONDO:0016554 neonatal iodine exposure skos:exactMatch MEDGEN:1669806 semapv:UnspecifiedMatching MONDO:0016554 neonatal iodine exposure skos:exactMatch Orphanet:238688 Neonatal iodine exposure semapv:UnspecifiedMatching MONDO:0016554 neonatal iodine exposure skos:exactMatch UMLS:C4751432 semapv:UnspecifiedMatching MONDO:0016555 transient congenital hypothyroidism due to maternal factor skos:exactMatch MEDGEN:1842783 semapv:UnspecifiedMatching MONDO:0016555 transient congenital hypothyroidism due to maternal factor skos:exactMatch Orphanet:238696 Transient congenital hypothyroidism due to maternal factor semapv:UnspecifiedMatching MONDO:0016555 transient congenital hypothyroidism due to maternal factor skos:exactMatch UMLS:C5680929 semapv:UnspecifiedMatching MONDO:0016556 transient congenital hypothyroidism due to neonatal factor skos:exactMatch MEDGEN:1842815 semapv:UnspecifiedMatching MONDO:0016556 transient congenital hypothyroidism due to neonatal factor skos:exactMatch Orphanet:238699 Transient congenital hypothyroidism due to neonatal factor semapv:UnspecifiedMatching MONDO:0016556 transient congenital hypothyroidism due to neonatal factor skos:exactMatch UMLS:C5680930 semapv:UnspecifiedMatching MONDO:0016557 leukonychia totalis skos:exactMatch MEDGEN:1641555 semapv:UnspecifiedMatching MONDO:0016557 leukonychia totalis skos:exactMatch Orphanet:2387 Leukonychia totalis semapv:UnspecifiedMatching MONDO:0016557 leukonychia totalis skos:exactMatch SCTID:763792009 semapv:UnspecifiedMatching MONDO:0016557 leukonychia totalis skos:exactMatch UMLS:C4551625 semapv:UnspecifiedMatching MONDO:0016557 leukonychia totalis skos:exactMatch mesh:C535889 semapv:UnspecifiedMatching MONDO:0016558 familial congenital mirror movements skos:exactMatch DOID:0111153 congenital mirror movement disorder semapv:UnspecifiedMatching MONDO:0016558 familial congenital mirror movements skos:exactMatch MEDGEN:473166 semapv:UnspecifiedMatching MONDO:0016558 familial congenital mirror movements skos:exactMatch OMIMPS:157600 Mirror movements semapv:UnspecifiedMatching MONDO:0016558 familial congenital mirror movements skos:exactMatch Orphanet:238722 Familial congenital mirror movements semapv:UnspecifiedMatching MONDO:0016558 familial congenital mirror movements skos:exactMatch SCTID:229247004 semapv:UnspecifiedMatching MONDO:0016558 familial congenital mirror movements skos:exactMatch UMLS:C0454455 semapv:UnspecifiedMatching MONDO:0016558 familial congenital mirror movements skos:exactMatch icd11.foundation:1966778637 Familial congenital mirror movements semapv:UnspecifiedMatching MONDO:0016559 glaucoma secondary to spherophakia/ectopia lentis and megalocornea skos:exactMatch MEDGEN:1674483 semapv:UnspecifiedMatching MONDO:0016559 glaucoma secondary to spherophakia/ectopia lentis and megalocornea skos:exactMatch Orphanet:238763 Glaucoma secondary to spherophakia/ectopia lentis and megalocornea semapv:UnspecifiedMatching MONDO:0016559 glaucoma secondary to spherophakia/ectopia lentis and megalocornea skos:exactMatch UMLS:C5190883 semapv:UnspecifiedMatching MONDO:0016561 1q44 microdeletion syndrome skos:exactMatch MEDGEN:930209 semapv:UnspecifiedMatching MONDO:0016561 1q44 microdeletion syndrome skos:exactMatch Orphanet:238769 1q44 microdeletion syndrome semapv:UnspecifiedMatching MONDO:0016561 1q44 microdeletion syndrome skos:exactMatch SCTID:719649004 semapv:UnspecifiedMatching MONDO:0016561 1q44 microdeletion syndrome skos:exactMatch UMLS:C4304540 semapv:UnspecifiedMatching MONDO:0016562 progressive supranuclear palsy-pure akinesia with gait freezing syndrome skos:exactMatch MEDGEN:1843032 semapv:UnspecifiedMatching MONDO:0016562 progressive supranuclear palsy-pure akinesia with gait freezing syndrome skos:exactMatch Orphanet:240094 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome semapv:UnspecifiedMatching MONDO:0016562 progressive supranuclear palsy-pure akinesia with gait freezing syndrome skos:exactMatch UMLS:C5679851 semapv:UnspecifiedMatching MONDO:0016563 progressive supranuclear palsy-corticobasal syndrome skos:exactMatch MEDGEN:1781130 semapv:UnspecifiedMatching MONDO:0016563 progressive supranuclear palsy-corticobasal syndrome skos:exactMatch Orphanet:240103 Progressive supranuclear palsy-corticobasal syndrome semapv:UnspecifiedMatching MONDO:0016563 progressive supranuclear palsy-corticobasal syndrome skos:exactMatch UMLS:C5548189 semapv:UnspecifiedMatching MONDO:0016564 progressive supranuclear palsy-progressive non-fluent aphasia syndrome skos:exactMatch MEDGEN:1842806 semapv:UnspecifiedMatching MONDO:0016564 progressive supranuclear palsy-progressive non-fluent aphasia syndrome skos:exactMatch Orphanet:240112 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome semapv:UnspecifiedMatching MONDO:0016564 progressive supranuclear palsy-progressive non-fluent aphasia syndrome skos:exactMatch UMLS:C5679850 semapv:UnspecifiedMatching MONDO:0016565 obsolete syndromic genetic obesity skos:exactMatch Orphanet:240371 Syndromic obesity semapv:UnspecifiedMatching MONDO:0016566 loiasis skos:exactMatch DOID:13523 loiasis semapv:UnspecifiedMatching MONDO:0016566 loiasis skos:exactMatch EFO:1000729 semapv:UnspecifiedMatching MONDO:0016566 loiasis skos:exactMatch ICD10CM:B74.3 Loiasis semapv:UnspecifiedMatching MONDO:0016566 loiasis skos:exactMatch MEDGEN:6132 semapv:UnspecifiedMatching MONDO:0016566 loiasis skos:exactMatch NCIT:C34784 Loiasis semapv:UnspecifiedMatching MONDO:0016566 loiasis skos:exactMatch Orphanet:2404 Loiasis semapv:UnspecifiedMatching MONDO:0016566 loiasis skos:exactMatch SCTID:44250009 semapv:UnspecifiedMatching MONDO:0016566 loiasis skos:exactMatch UMLS:C0023968 semapv:UnspecifiedMatching MONDO:0016566 loiasis skos:exactMatch icd11.foundation:709184369 Loiasis semapv:UnspecifiedMatching MONDO:0016566 loiasis skos:exactMatch mesh:D008118 semapv:UnspecifiedMatching MONDO:0016567 locked-in syndrome skos:exactMatch DOID:12697 locked-in syndrome semapv:UnspecifiedMatching MONDO:0016567 locked-in syndrome skos:exactMatch ICD10CM:G83.5 Locked-in state semapv:UnspecifiedMatching MONDO:0016567 locked-in syndrome skos:exactMatch MEDGEN:7378 semapv:UnspecifiedMatching MONDO:0016567 locked-in syndrome skos:exactMatch Orphanet:2406 Locked-in syndrome semapv:UnspecifiedMatching MONDO:0016567 locked-in syndrome skos:exactMatch SCTID:38023001 semapv:UnspecifiedMatching MONDO:0016567 locked-in syndrome skos:exactMatch UMLS:C0023944 semapv:UnspecifiedMatching MONDO:0016567 locked-in syndrome skos:exactMatch icd11.foundation:17562655 Locked-in syndrome semapv:UnspecifiedMatching MONDO:0016567 locked-in syndrome skos:exactMatch mesh:D000080422 semapv:UnspecifiedMatching MONDO:0016568 Lowe-Kohn-Cohen syndrome skos:exactMatch MEDGEN:1646729 semapv:UnspecifiedMatching MONDO:0016568 Lowe-Kohn-Cohen syndrome skos:exactMatch Orphanet:2408 Lowe-Kohn-Cohen syndrome semapv:UnspecifiedMatching MONDO:0016568 Lowe-Kohn-Cohen syndrome skos:exactMatch SCTID:766249007 semapv:UnspecifiedMatching MONDO:0016568 Lowe-Kohn-Cohen syndrome skos:exactMatch UMLS:C4707726 semapv:UnspecifiedMatching MONDO:0016568 Lowe-Kohn-Cohen syndrome skos:exactMatch icd11.foundation:2061193977 Lowe-Kohn-Cohen syndrome semapv:UnspecifiedMatching MONDO:0016568 Lowe-Kohn-Cohen syndrome skos:exactMatch mesh:C535996 semapv:UnspecifiedMatching MONDO:0016570 primary pulmonary lymphoma skos:exactMatch MEDGEN:903876 semapv:UnspecifiedMatching MONDO:0016570 primary pulmonary lymphoma skos:exactMatch Orphanet:2420 Primary pulmonary lymphoma semapv:UnspecifiedMatching MONDO:0016570 primary pulmonary lymphoma skos:exactMatch SCTID:718200007 semapv:UnspecifiedMatching MONDO:0016570 primary pulmonary lymphoma skos:exactMatch UMLS:C4273669 semapv:UnspecifiedMatching MONDO:0016570 primary pulmonary lymphoma skos:exactMatch icd11.foundation:1042489672 Primary pulmonary lymphoma semapv:UnspecifiedMatching MONDO:0016571 macrocephaly-short stature-paraplegia syndrome skos:exactMatch MEDGEN:419845 semapv:UnspecifiedMatching MONDO:0016571 macrocephaly-short stature-paraplegia syndrome skos:exactMatch Orphanet:2427 Macrocephaly-short stature-paraplegia syndrome semapv:UnspecifiedMatching MONDO:0016571 macrocephaly-short stature-paraplegia syndrome skos:exactMatch SCTID:722033000 semapv:UnspecifiedMatching MONDO:0016571 macrocephaly-short stature-paraplegia syndrome skos:exactMatch UMLS:C2931595 semapv:UnspecifiedMatching MONDO:0016571 macrocephaly-short stature-paraplegia syndrome skos:exactMatch mesh:C537718 semapv:UnspecifiedMatching MONDO:0016572 central bilateral macrogyria skos:exactMatch MEDGEN:929618 semapv:UnspecifiedMatching MONDO:0016572 central bilateral macrogyria skos:exactMatch SCTID:720632004 semapv:UnspecifiedMatching MONDO:0016572 central bilateral macrogyria skos:exactMatch UMLS:C4303949 semapv:UnspecifiedMatching MONDO:0016572 central bilateral macrogyria skos:exactMatch icd11.foundation:67804763 Central bilateral macrogyria semapv:UnspecifiedMatching MONDO:0016573 acute fatty liver of pregnancy skos:exactMatch MEDGEN:264102 semapv:UnspecifiedMatching MONDO:0016573 acute fatty liver of pregnancy skos:exactMatch Orphanet:243367 Acute fatty liver of pregnancy semapv:UnspecifiedMatching MONDO:0016573 acute fatty liver of pregnancy skos:exactMatch SCTID:716379000 semapv:UnspecifiedMatching MONDO:0016573 acute fatty liver of pregnancy skos:exactMatch UMLS:C1455728 semapv:UnspecifiedMatching MONDO:0016573 acute fatty liver of pregnancy skos:exactMatch icd11.foundation:1226221530 Acute fatty liver of pregnancy semapv:UnspecifiedMatching MONDO:0016573 acute fatty liver of pregnancy skos:exactMatch mesh:C537957 semapv:UnspecifiedMatching MONDO:0016574 hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome skos:exactMatch MEDGEN:371988 semapv:UnspecifiedMatching MONDO:0016574 hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome skos:exactMatch Orphanet:2435 Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0016574 hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome skos:exactMatch SCTID:733469003 semapv:UnspecifiedMatching MONDO:0016574 hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome skos:exactMatch UMLS:C1835172 semapv:UnspecifiedMatching MONDO:0016574 hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome skos:exactMatch mesh:C537836 semapv:UnspecifiedMatching MONDO:0016575 primary ciliary dyskinesia skos:exactMatch DOID:0050144 Kartagener syndrome semapv:UnspecifiedMatching MONDO:0016575 primary ciliary dyskinesia skos:exactMatch DOID:9562 primary ciliary dyskinesia semapv:UnspecifiedMatching MONDO:0016575 primary ciliary dyskinesia skos:exactMatch MEDGEN:3467 semapv:UnspecifiedMatching MONDO:0016575 primary ciliary dyskinesia skos:exactMatch NCIT:C84797 Kartagener Syndrome semapv:UnspecifiedMatching MONDO:0016575 primary ciliary dyskinesia skos:exactMatch OMIMPS:244400 Primary ciliary dyskinesia semapv:UnspecifiedMatching MONDO:0016575 primary ciliary dyskinesia skos:exactMatch Orphanet:244 Primary ciliary dyskinesia semapv:UnspecifiedMatching MONDO:0016575 primary ciliary dyskinesia skos:exactMatch SCTID:42402006 semapv:UnspecifiedMatching MONDO:0016575 primary ciliary dyskinesia skos:exactMatch SCTID:86204009 semapv:UnspecifiedMatching MONDO:0016575 primary ciliary dyskinesia skos:exactMatch UMLS:C0008780 semapv:UnspecifiedMatching MONDO:0016575 primary ciliary dyskinesia skos:exactMatch icd11.foundation:1713839459 Primary ciliary dyskinesia semapv:UnspecifiedMatching MONDO:0016575 primary ciliary dyskinesia skos:exactMatch mesh:D002925 semapv:UnspecifiedMatching MONDO:0016575 primary ciliary dyskinesia skos:exactMatch mesh:D007619 semapv:UnspecifiedMatching MONDO:0016576 split hand-foot malformation skos:exactMatch DOID:0090020 split hand-foot malformation semapv:UnspecifiedMatching MONDO:0016576 split hand-foot malformation skos:exactMatch MEDGEN:78566 semapv:UnspecifiedMatching MONDO:0016576 split hand-foot malformation skos:exactMatch NCIT:C75000 Ectrodactyly semapv:UnspecifiedMatching MONDO:0016576 split hand-foot malformation skos:exactMatch OMIMPS:183600 Split-hand/foot malformation semapv:UnspecifiedMatching MONDO:0016576 split hand-foot malformation skos:exactMatch Orphanet:2440 Isolated split hand-split foot malformation semapv:UnspecifiedMatching MONDO:0016576 split hand-foot malformation skos:exactMatch SCTID:81208006 semapv:UnspecifiedMatching MONDO:0016576 split hand-foot malformation skos:exactMatch UMLS:C0265554 semapv:UnspecifiedMatching MONDO:0016577 biliary atresia with splenic malformation syndrome skos:exactMatch MEDGEN:907806 semapv:UnspecifiedMatching MONDO:0016577 biliary atresia with splenic malformation syndrome skos:exactMatch Orphanet:244283 Biliary atresia with splenic malformation syndrome semapv:UnspecifiedMatching MONDO:0016577 biliary atresia with splenic malformation syndrome skos:exactMatch SCTID:717156002 semapv:UnspecifiedMatching MONDO:0016577 biliary atresia with splenic malformation syndrome skos:exactMatch UMLS:C4274029 semapv:UnspecifiedMatching MONDO:0016578 obsolete mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies skos:exactMatch Orphanet:2443 Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies semapv:UnspecifiedMatching MONDO:0016579 obsolete dominant hypophosphatemia with nephrolithiasis or osteoporosis skos:exactMatch Orphanet:244305 Dominant hypophosphatemia with nephrolithiasis or osteoporosis semapv:UnspecifiedMatching MONDO:0016580 congenital pulmonary airway malformation skos:exactMatch MEDGEN:8225 semapv:UnspecifiedMatching MONDO:0016580 congenital pulmonary airway malformation skos:exactMatch NCIT:C98892 Congenital Cystic Adenomatoid Malformation of the Lung semapv:UnspecifiedMatching MONDO:0016580 congenital pulmonary airway malformation skos:exactMatch Orphanet:2444 Congenital pulmonary airway malformation semapv:UnspecifiedMatching MONDO:0016580 congenital pulmonary airway malformation skos:exactMatch SCTID:111318005 semapv:UnspecifiedMatching MONDO:0016580 congenital pulmonary airway malformation skos:exactMatch UMLS:C0010668 semapv:UnspecifiedMatching MONDO:0016580 congenital pulmonary airway malformation skos:exactMatch icd11.foundation:2091138945 Congenital pulmonary airway malformations semapv:UnspecifiedMatching MONDO:0016580 congenital pulmonary airway malformation skos:exactMatch mesh:D015615 semapv:UnspecifiedMatching MONDO:0016581 conotruncal heart malformations skos:exactMatch MEDGEN:341803 semapv:UnspecifiedMatching MONDO:0016581 conotruncal heart malformations skos:exactMatch OMIM:217095 conotruncal heart malformations semapv:UnspecifiedMatching MONDO:0016581 conotruncal heart malformations skos:exactMatch Orphanet:2445 Conotruncal heart malformations semapv:UnspecifiedMatching MONDO:0016581 conotruncal heart malformations skos:exactMatch SCTID:218728005 semapv:UnspecifiedMatching MONDO:0016581 conotruncal heart malformations skos:exactMatch UMLS:C1857586 semapv:UnspecifiedMatching MONDO:0016582 congenital mitral malformation skos:exactMatch MEDGEN:1842184 semapv:UnspecifiedMatching MONDO:0016582 congenital mitral malformation skos:exactMatch Orphanet:2447 Congenital mitral malformation semapv:UnspecifiedMatching MONDO:0016582 congenital mitral malformation skos:exactMatch UMLS:C5680882 semapv:UnspecifiedMatching MONDO:0016584 mandibuloacral dysplasia skos:exactMatch DOID:0081127 mandibuloacral dysplasia semapv:UnspecifiedMatching MONDO:0016584 mandibuloacral dysplasia skos:exactMatch MEDGEN:98485 semapv:UnspecifiedMatching MONDO:0016584 mandibuloacral dysplasia skos:exactMatch OMIMPS:248370 Mandibuloacral dysplasia with lipodystrophy semapv:UnspecifiedMatching MONDO:0016584 mandibuloacral dysplasia skos:exactMatch Orphanet:2457 Mandibuloacral dysplasia semapv:UnspecifiedMatching MONDO:0016584 mandibuloacral dysplasia skos:exactMatch UMLS:C0432291 semapv:UnspecifiedMatching MONDO:0016584 mandibuloacral dysplasia skos:exactMatch icd11.foundation:1687046570 Mandibuloacral dysplasia semapv:UnspecifiedMatching MONDO:0016586 systemic mastocytosis skos:exactMatch DOID:349 systemic mastocytosis semapv:UnspecifiedMatching MONDO:0016586 systemic mastocytosis skos:exactMatch ICD10CM:D47.02 Systemic mastocytosis semapv:UnspecifiedMatching MONDO:0016586 systemic mastocytosis skos:exactMatch MEDGEN:67436 semapv:UnspecifiedMatching MONDO:0016586 systemic mastocytosis skos:exactMatch NCIT:C9235 Systemic Mastocytosis semapv:UnspecifiedMatching MONDO:0016586 systemic mastocytosis skos:exactMatch Orphanet:2467 Systemic mastocytosis semapv:UnspecifiedMatching MONDO:0016586 systemic mastocytosis skos:exactMatch SCTID:397016004 semapv:UnspecifiedMatching MONDO:0016586 systemic mastocytosis skos:exactMatch UMLS:C0221013 semapv:UnspecifiedMatching MONDO:0016586 systemic mastocytosis skos:exactMatch icd11.foundation:1144812971 Systemic mastocytosis semapv:UnspecifiedMatching MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy skos:exactMatch DOID:0050431 arrhythmogenic right ventricular cardiomyopathy semapv:UnspecifiedMatching MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy skos:exactMatch MEDGEN:87618 semapv:UnspecifiedMatching MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy skos:exactMatch NCIT:C84571 Arrhythmogenic Right Ventricular Dysplasia semapv:UnspecifiedMatching MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy skos:exactMatch Orphanet:247 Inherited arrhythmogenic cardiomyopathy semapv:UnspecifiedMatching MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy skos:exactMatch SCTID:281170005 semapv:UnspecifiedMatching MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy skos:exactMatch UMLS:C0349788 semapv:UnspecifiedMatching MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy skos:exactMatch icd11.foundation:1931494126 Arrhythmogenic ventricular cardiomyopathy with right ventricular dominance semapv:UnspecifiedMatching MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy skos:exactMatch mesh:D019571 semapv:UnspecifiedMatching MONDO:0016588 infantile mercury poisoning skos:exactMatch Orphanet:247165 Infantile mercury poisoning semapv:UnspecifiedMatching MONDO:0016588 infantile mercury poisoning skos:exactMatch SCTID:66695004 semapv:UnspecifiedMatching MONDO:0016588 infantile mercury poisoning skos:exactMatch mesh:D000170 semapv:UnspecifiedMatching MONDO:0016589 obsolete progressive cerebello-cerebral atrophy skos:exactMatch Orphanet:247198 Progressive cerebello-cerebral atrophy semapv:UnspecifiedMatching MONDO:0016591 sporadic adult-onset ataxia of unknown etiology skos:exactMatch MEDGEN:1383968 semapv:UnspecifiedMatching MONDO:0016591 sporadic adult-onset ataxia of unknown etiology skos:exactMatch Orphanet:247234 Sporadic adult-onset ataxia of unknown etiology semapv:UnspecifiedMatching MONDO:0016591 sporadic adult-onset ataxia of unknown etiology skos:exactMatch SCTID:734023003 semapv:UnspecifiedMatching MONDO:0016591 sporadic adult-onset ataxia of unknown etiology skos:exactMatch UMLS:C4518339 semapv:UnspecifiedMatching MONDO:0016592 obsolete non-hereditary degenerative ataxia skos:exactMatch Orphanet:247239 Non-hereditary degenerative ataxia semapv:UnspecifiedMatching MONDO:0016592 obsolete non-hereditary degenerative ataxia skos:exactMatch icd11.foundation:1257393361 Non-hereditary degenerative ataxia semapv:UnspecifiedMatching MONDO:0016593 acquired ataxia skos:exactMatch MEDGEN:927781 semapv:UnspecifiedMatching MONDO:0016593 acquired ataxia skos:exactMatch Orphanet:247242 Acquired ataxia semapv:UnspecifiedMatching MONDO:0016593 acquired ataxia skos:exactMatch SCTID:722968003 semapv:UnspecifiedMatching MONDO:0016593 acquired ataxia skos:exactMatch UMLS:C4302112 semapv:UnspecifiedMatching MONDO:0016593 acquired ataxia skos:exactMatch icd11.foundation:71197968 Acquired ataxia semapv:UnspecifiedMatching MONDO:0016594 superficial siderosis skos:exactMatch MEDGEN:1371500 semapv:UnspecifiedMatching MONDO:0016594 superficial siderosis skos:exactMatch Orphanet:247245 Superficial siderosis semapv:UnspecifiedMatching MONDO:0016594 superficial siderosis skos:exactMatch UMLS:C2938918 semapv:UnspecifiedMatching MONDO:0016595 inhalational anthrax skos:exactMatch DOID:0050160 inhalation anthrax semapv:UnspecifiedMatching MONDO:0016595 inhalational anthrax skos:exactMatch ICD10CM:A22.1 Pulmonary anthrax semapv:UnspecifiedMatching MONDO:0016595 inhalational anthrax skos:exactMatch MEDGEN:57841 semapv:UnspecifiedMatching MONDO:0016595 inhalational anthrax skos:exactMatch Orphanet:247257 Inhalational anthrax semapv:UnspecifiedMatching MONDO:0016595 inhalational anthrax skos:exactMatch SCTID:11389007 semapv:UnspecifiedMatching MONDO:0016595 inhalational anthrax skos:exactMatch UMLS:C0155866 semapv:UnspecifiedMatching MONDO:0016595 inhalational anthrax skos:exactMatch mesh:C571912 semapv:UnspecifiedMatching MONDO:0016596 hyperphosphatasia-intellectual disability syndrome skos:exactMatch DOID:0070431 hyperphosphatasia with impaired intellectual development syndrome semapv:UnspecifiedMatching MONDO:0016596 hyperphosphatasia-intellectual disability syndrome skos:exactMatch MEDGEN:383800 semapv:UnspecifiedMatching MONDO:0016596 hyperphosphatasia-intellectual disability syndrome skos:exactMatch OMIMPS:239300 Hyperphosphatasia with mental retardation syndrome semapv:UnspecifiedMatching MONDO:0016596 hyperphosphatasia-intellectual disability syndrome skos:exactMatch Orphanet:247262 Hyperphosphatasia-intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0016596 hyperphosphatasia-intellectual disability syndrome skos:exactMatch SCTID:33982008 semapv:UnspecifiedMatching MONDO:0016596 hyperphosphatasia-intellectual disability syndrome skos:exactMatch UMLS:C1855923 semapv:UnspecifiedMatching MONDO:0016598 autosomal recessive secondary polycythemia not associated with VHL gene skos:exactMatch Orphanet:247378 Autosomal recessive secondary polycythemia not associated with VHL gene semapv:UnspecifiedMatching MONDO:0016599 obsolete autosomal dominant secondary polycythemia skos:exactMatch Orphanet:247511 Autosomal dominant secondary polycythemia semapv:UnspecifiedMatching MONDO:0016600 acute neonatal citrullinemia type I skos:exactMatch MEDGEN:1843387 semapv:UnspecifiedMatching MONDO:0016600 acute neonatal citrullinemia type I skos:exactMatch Orphanet:247546 Acute neonatal citrullinemia type I semapv:UnspecifiedMatching MONDO:0016600 acute neonatal citrullinemia type I skos:exactMatch UMLS:C5679618 semapv:UnspecifiedMatching MONDO:0016601 adult-onset citrullinemia type I skos:exactMatch MEDGEN:541357 semapv:UnspecifiedMatching MONDO:0016601 adult-onset citrullinemia type I skos:exactMatch Orphanet:247573 Late-onset citrullinemia type I semapv:UnspecifiedMatching MONDO:0016601 adult-onset citrullinemia type I skos:exactMatch UMLS:C0268546 semapv:UnspecifiedMatching MONDO:0016602 citrin deficiency skos:exactMatch MEDGEN:372684 semapv:UnspecifiedMatching MONDO:0016602 citrin deficiency skos:exactMatch Orphanet:247582 Citrin deficiency semapv:UnspecifiedMatching MONDO:0016602 citrin deficiency skos:exactMatch SCTID:429735007 semapv:UnspecifiedMatching MONDO:0016602 citrin deficiency skos:exactMatch UMLS:C1997910 semapv:UnspecifiedMatching MONDO:0016602 citrin deficiency skos:exactMatch icd11.foundation:348535193 Citrin deficiency semapv:UnspecifiedMatching MONDO:0016603 citrullinemia type II skos:exactMatch MEDGEN:350276 semapv:UnspecifiedMatching MONDO:0016603 citrullinemia type II skos:exactMatch NCIT:C150603 Citrullinemia Type II semapv:UnspecifiedMatching MONDO:0016603 citrullinemia type II skos:exactMatch Orphanet:247585 Citrullinemia type II semapv:UnspecifiedMatching MONDO:0016603 citrullinemia type II skos:exactMatch SCTID:716863007 semapv:UnspecifiedMatching MONDO:0016603 citrullinemia type II skos:exactMatch UMLS:C1863844 semapv:UnspecifiedMatching MONDO:0016604 dysraphism-cleft lip/palate-limb reduction defects syndrome skos:exactMatch MEDGEN:1809965 semapv:UnspecifiedMatching MONDO:0016604 dysraphism-cleft lip/palate-limb reduction defects syndrome skos:exactMatch Orphanet:2476 Dysraphism-cleft lip/palate-limb reduction defects syndrome semapv:UnspecifiedMatching MONDO:0016604 dysraphism-cleft lip/palate-limb reduction defects syndrome skos:exactMatch UMLS:C5679624 semapv:UnspecifiedMatching MONDO:0016605 perinatal lethal hypophosphatasia skos:exactMatch MEDGEN:392928 semapv:UnspecifiedMatching MONDO:0016605 perinatal lethal hypophosphatasia skos:exactMatch Orphanet:247623 Perinatal lethal hypophosphatasia semapv:UnspecifiedMatching MONDO:0016605 perinatal lethal hypophosphatasia skos:exactMatch UMLS:C2673477 semapv:UnspecifiedMatching MONDO:0016607 odontohypophosphatasia skos:exactMatch MEDGEN:326709 semapv:UnspecifiedMatching MONDO:0016607 odontohypophosphatasia skos:exactMatch NCIT:C131309 Odontohypophosphatasia semapv:UnspecifiedMatching MONDO:0016607 odontohypophosphatasia skos:exactMatch Orphanet:247685 Odontohypophosphatasia semapv:UnspecifiedMatching MONDO:0016607 odontohypophosphatasia skos:exactMatch SCTID:708672004 semapv:UnspecifiedMatching MONDO:0016607 odontohypophosphatasia skos:exactMatch UMLS:C1840322 semapv:UnspecifiedMatching MONDO:0016607 odontohypophosphatasia skos:exactMatch mesh:C564146 semapv:UnspecifiedMatching MONDO:0016608 megalencephaly skos:exactMatch ICD10CM:Q04.5 Megalencephaly semapv:UnspecifiedMatching MONDO:0016608 megalencephaly skos:exactMatch MEDGEN:65141 semapv:UnspecifiedMatching MONDO:0016608 megalencephaly skos:exactMatch Orphanet:2477 Isolated megalencephaly semapv:UnspecifiedMatching MONDO:0016608 megalencephaly skos:exactMatch SCTID:9740002 semapv:UnspecifiedMatching MONDO:0016608 megalencephaly skos:exactMatch UMLS:C0221355 semapv:UnspecifiedMatching MONDO:0016608 megalencephaly skos:exactMatch icd11.foundation:368780653 Megalencephaly semapv:UnspecifiedMatching MONDO:0016608 megalencephaly skos:exactMatch mesh:D058627 semapv:UnspecifiedMatching MONDO:0016609 inflammatory myopathy with abundant macrophages skos:exactMatch MEDGEN:1638939 semapv:UnspecifiedMatching MONDO:0016609 inflammatory myopathy with abundant macrophages skos:exactMatch Orphanet:247718 Inflammatory myopathy with abundant macrophages semapv:UnspecifiedMatching MONDO:0016609 inflammatory myopathy with abundant macrophages skos:exactMatch SCTID:766706007 semapv:UnspecifiedMatching MONDO:0016609 inflammatory myopathy with abundant macrophages skos:exactMatch UMLS:C4707791 semapv:UnspecifiedMatching MONDO:0016610 idiopathic eosinophilic myositis skos:exactMatch MEDGEN:1659844 semapv:UnspecifiedMatching MONDO:0016610 idiopathic eosinophilic myositis skos:exactMatch Orphanet:247724 Idiopathic eosinophilic myositis semapv:UnspecifiedMatching MONDO:0016610 idiopathic eosinophilic myositis skos:exactMatch UMLS:C4755301 semapv:UnspecifiedMatching MONDO:0016611 lipoblastoma skos:exactMatch MEDGEN:220362 semapv:UnspecifiedMatching MONDO:0016611 lipoblastoma skos:exactMatch NCIT:C27483 Lipoblastoma semapv:UnspecifiedMatching MONDO:0016611 lipoblastoma skos:exactMatch Orphanet:247762 Lipoblastoma semapv:UnspecifiedMatching MONDO:0016611 lipoblastoma skos:exactMatch SCTID:400102008 semapv:UnspecifiedMatching MONDO:0016611 lipoblastoma skos:exactMatch UMLS:C1260965 semapv:UnspecifiedMatching MONDO:0016611 lipoblastoma skos:exactMatch icd11.foundation:581420938 Lipoblastoma semapv:UnspecifiedMatching MONDO:0016611 lipoblastoma skos:exactMatch mesh:D062689 semapv:UnspecifiedMatching MONDO:0016612 X-linked cerebellar ataxia skos:exactMatch DOID:0050953 X-linked hereditary ataxia semapv:UnspecifiedMatching MONDO:0016612 X-linked cerebellar ataxia skos:exactMatch DOID:0111828 X-linked cerebellar ataxia semapv:UnspecifiedMatching MONDO:0016612 X-linked cerebellar ataxia skos:exactMatch Orphanet:247765 X-linked cerebellar ataxia semapv:UnspecifiedMatching MONDO:0016614 autosomal recessive ataxia due to PEX10 deficiency skos:exactMatch MEDGEN:1843173 semapv:UnspecifiedMatching MONDO:0016614 autosomal recessive ataxia due to PEX10 deficiency skos:exactMatch Orphanet:247815 Autosomal recessive ataxia due to PEX10 deficiency semapv:UnspecifiedMatching MONDO:0016614 autosomal recessive ataxia due to PEX10 deficiency skos:exactMatch UMLS:C5679614 semapv:UnspecifiedMatching MONDO:0016619 autosomal recessive hypohidrotic ectodermal dysplasia skos:exactMatch MEDGEN:96067 semapv:UnspecifiedMatching MONDO:0016619 autosomal recessive hypohidrotic ectodermal dysplasia skos:exactMatch NCIT:C84580 Autosomal Recessive Hypohidrotic Ectodermal Dysplasia semapv:UnspecifiedMatching MONDO:0016619 autosomal recessive hypohidrotic ectodermal dysplasia skos:exactMatch Orphanet:248 Autosomal recessive hypohidrotic ectodermal dysplasia semapv:UnspecifiedMatching MONDO:0016619 autosomal recessive hypohidrotic ectodermal dysplasia skos:exactMatch SCTID:27025001 semapv:UnspecifiedMatching MONDO:0016619 autosomal recessive hypohidrotic ectodermal dysplasia skos:exactMatch UMLS:C0406702 semapv:UnspecifiedMatching MONDO:0016619 autosomal recessive hypohidrotic ectodermal dysplasia skos:exactMatch icd11.foundation:7083042 Autosomal recessive hypohidrotic ectodermal dysplasia semapv:UnspecifiedMatching MONDO:0016619 autosomal recessive hypohidrotic ectodermal dysplasia skos:exactMatch mesh:D053360 semapv:UnspecifiedMatching MONDO:0016620 primary hypertrophic osteoarthropathy skos:exactMatch DOID:14283 primary hypertrophic osteoarthropathy semapv:UnspecifiedMatching MONDO:0016620 primary hypertrophic osteoarthropathy skos:exactMatch MEDGEN:18210 semapv:UnspecifiedMatching MONDO:0016620 primary hypertrophic osteoarthropathy skos:exactMatch NCIT:C85023 Primary Hypertrophic Osteoarthropathy semapv:UnspecifiedMatching MONDO:0016620 primary hypertrophic osteoarthropathy skos:exactMatch OMIMPS:259100 Hypertropic osteoarthropathy, primary semapv:UnspecifiedMatching MONDO:0016620 primary hypertrophic osteoarthropathy skos:exactMatch Orphanet:248095 Primary hypertrophic osteoarthropathy semapv:UnspecifiedMatching MONDO:0016620 primary hypertrophic osteoarthropathy skos:exactMatch Orphanet:2796 Pachydermoperiostosis semapv:UnspecifiedMatching MONDO:0016620 primary hypertrophic osteoarthropathy skos:exactMatch SCTID:88220006 semapv:UnspecifiedMatching MONDO:0016620 primary hypertrophic osteoarthropathy skos:exactMatch UMLS:C0029411 semapv:UnspecifiedMatching MONDO:0016620 primary hypertrophic osteoarthropathy skos:exactMatch icd11.foundation:792225761 Primary hypertrophic osteoarthropathy semapv:UnspecifiedMatching MONDO:0016620 primary hypertrophic osteoarthropathy skos:exactMatch mesh:D010004 semapv:UnspecifiedMatching MONDO:0016621 juvenile Huntington disease skos:exactMatch MEDGEN:155518 semapv:UnspecifiedMatching MONDO:0016621 juvenile Huntington disease skos:exactMatch NCIT:C147072 Juvenile Huntington Disease semapv:UnspecifiedMatching MONDO:0016621 juvenile Huntington disease skos:exactMatch Orphanet:248111 Juvenile Huntington disease semapv:UnspecifiedMatching MONDO:0016621 juvenile Huntington disease skos:exactMatch SCTID:230299004 semapv:UnspecifiedMatching MONDO:0016621 juvenile Huntington disease skos:exactMatch UMLS:C0751208 semapv:UnspecifiedMatching MONDO:0016622 Melhem-Fahl syndrome skos:exactMatch MEDGEN:444059 semapv:UnspecifiedMatching MONDO:0016622 Melhem-Fahl syndrome skos:exactMatch Orphanet:2482 Melhem-Fahl syndrome semapv:UnspecifiedMatching MONDO:0016622 Melhem-Fahl syndrome skos:exactMatch SCTID:732263008 semapv:UnspecifiedMatching MONDO:0016622 Melhem-Fahl syndrome skos:exactMatch UMLS:C2931453 semapv:UnspecifiedMatching MONDO:0016622 Melhem-Fahl syndrome skos:exactMatch icd11.foundation:999539082 Melhem-Fahl syndrome semapv:UnspecifiedMatching MONDO:0016622 Melhem-Fahl syndrome skos:exactMatch mesh:C537238 semapv:UnspecifiedMatching MONDO:0016623 obsolete rare deficiency anemia skos:exactMatch Orphanet:248293 Rare deficiency anemia semapv:UnspecifiedMatching MONDO:0016624 hereditary anemia skos:exactMatch MEDGEN:1842172 semapv:UnspecifiedMatching MONDO:0016624 hereditary anemia skos:exactMatch Orphanet:248296 Constitutional deficiency anemia semapv:UnspecifiedMatching MONDO:0016624 hereditary anemia skos:exactMatch UMLS:C5680695 semapv:UnspecifiedMatching MONDO:0016625 acquired deficiency anemia skos:exactMatch MEDGEN:1842907 semapv:UnspecifiedMatching MONDO:0016625 acquired deficiency anemia skos:exactMatch Orphanet:248302 Rare acquired deficiency anemia semapv:UnspecifiedMatching MONDO:0016625 acquired deficiency anemia skos:exactMatch UMLS:C5680693 semapv:UnspecifiedMatching MONDO:0016626 obsolete hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency skos:exactMatch Orphanet:248305 OBSOLETE: Hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0016627 obsolete rare hemorrhagic disorder skos:exactMatch Orphanet:248308 Rare hemorrhagic disorder semapv:UnspecifiedMatching MONDO:0016628 obsolete hemorrhagic disorder due to a coagulation factors defect skos:exactMatch Orphanet:248315 Rare hemorrhagic disorder due to a coagulation factors defect semapv:UnspecifiedMatching MONDO:0016629 obsolete hemorrhagic disorder due to a platelet anomaly skos:exactMatch Orphanet:248326 Rare hemorrhagic disorder due to a platelet anomaly semapv:UnspecifiedMatching MONDO:0016630 isolated delta-storage pool disease skos:exactMatch Orphanet:248340 Isolated delta-storage pool disease semapv:UnspecifiedMatching MONDO:0016630 isolated delta-storage pool disease skos:exactMatch icd11.foundation:2133567182 Isolated delta-storage pool disease semapv:UnspecifiedMatching MONDO:0016631 obsolete hemorrhagic disorder due to an acquired platelet anomaly skos:exactMatch Orphanet:248347 Rare hemorrhagic disorder due to an acquired platelet anomaly semapv:UnspecifiedMatching MONDO:0016632 obsolete thrombotic disorder due to a coagulation factors defect skos:exactMatch Orphanet:248358 Rare thrombotic disorder due to a coagulation factors defect semapv:UnspecifiedMatching MONDO:0016633 obsolete thrombotic disorder due to a constitutional coagulation factors defect skos:exactMatch Orphanet:248361 Rare thrombotic disorder due to a constitutional coagulation factors defect semapv:UnspecifiedMatching MONDO:0016634 obsolete thrombotic disorder due to an acquired coagulation factors defect skos:exactMatch Orphanet:248365 Rare thrombotic disorder due to an acquired coagulation factors defect semapv:UnspecifiedMatching MONDO:0016635 obsolete thrombotic disorder due to a platelet anomaly skos:exactMatch Orphanet:248368 Rare thrombotic disorder due to a platelet anomaly semapv:UnspecifiedMatching MONDO:0016636 obsolete thrombotic disorder due to a constitutional platelet anomaly skos:exactMatch Orphanet:248401 Rare thrombotic disorder due to a constitutional platelet anomaly semapv:UnspecifiedMatching MONDO:0016637 obsolete thrombotic disorder due to an acquired platelet anomaly skos:exactMatch Orphanet:248404 Rare thrombotic disorder due to an acquired platelet anomaly semapv:UnspecifiedMatching MONDO:0016638 familial hypodysfibrinogenemia skos:exactMatch MEDGEN:347987 semapv:UnspecifiedMatching MONDO:0016638 familial hypodysfibrinogenemia skos:exactMatch Orphanet:248408 Familial hypodysfibrinogenemia semapv:UnspecifiedMatching MONDO:0016638 familial hypodysfibrinogenemia skos:exactMatch UMLS:C1859970 semapv:UnspecifiedMatching MONDO:0016639 lower limb deficiency-hypospadias syndrome skos:exactMatch MEDGEN:418952 semapv:UnspecifiedMatching MONDO:0016639 lower limb deficiency-hypospadias syndrome skos:exactMatch Orphanet:2487 Lower limb malformation-hypospadias syndrome semapv:UnspecifiedMatching MONDO:0016639 lower limb deficiency-hypospadias syndrome skos:exactMatch UMLS:C2930962 semapv:UnspecifiedMatching MONDO:0016639 lower limb deficiency-hypospadias syndrome skos:exactMatch mesh:C535640 semapv:UnspecifiedMatching MONDO:0016641 limb transversal defect-cardiac anomaly syndrome skos:exactMatch MEDGEN:419705 semapv:UnspecifiedMatching MONDO:0016641 limb transversal defect-cardiac anomaly syndrome skos:exactMatch Orphanet:2492 FATCO syndrome semapv:UnspecifiedMatching MONDO:0016641 limb transversal defect-cardiac anomaly syndrome skos:exactMatch UMLS:C2931047 semapv:UnspecifiedMatching MONDO:0016641 limb transversal defect-cardiac anomaly syndrome skos:exactMatch mesh:C535856 semapv:UnspecifiedMatching MONDO:0016642 meningioma skos:exactMatch DOID:3565 meningioma semapv:UnspecifiedMatching MONDO:0016642 meningioma skos:exactMatch MEDGEN:7532 semapv:UnspecifiedMatching MONDO:0016642 meningioma skos:exactMatch NCIT:C3230 Meningioma semapv:UnspecifiedMatching MONDO:0016642 meningioma skos:exactMatch Orphanet:2495 Meningioma semapv:UnspecifiedMatching MONDO:0016642 meningioma skos:exactMatch SCTID:302820008 semapv:UnspecifiedMatching MONDO:0016642 meningioma skos:exactMatch UMLS:C0025286 semapv:UnspecifiedMatching MONDO:0016642 meningioma skos:exactMatch icd11.foundation:672106711 Meningiomas semapv:UnspecifiedMatching MONDO:0016642 meningioma skos:exactMatch mesh:D008579 semapv:UnspecifiedMatching MONDO:0016643 frontonasal dysplasia skos:exactMatch DOID:0081044 frontonasal dysplasia semapv:UnspecifiedMatching MONDO:0016643 frontonasal dysplasia skos:exactMatch MEDGEN:406292 semapv:UnspecifiedMatching MONDO:0016643 frontonasal dysplasia skos:exactMatch OMIMPS:136760 Frontonasal dysplasia semapv:UnspecifiedMatching MONDO:0016643 frontonasal dysplasia skos:exactMatch Orphanet:250 Frontonasal dysplasia semapv:UnspecifiedMatching MONDO:0016643 frontonasal dysplasia skos:exactMatch SCTID:86610004 semapv:UnspecifiedMatching MONDO:0016643 frontonasal dysplasia skos:exactMatch UMLS:C1876203 semapv:UnspecifiedMatching MONDO:0016643 frontonasal dysplasia skos:exactMatch icd11.foundation:782645776 Frontonasal dysplasia semapv:UnspecifiedMatching MONDO:0016643 frontonasal dysplasia skos:exactMatch mesh:C538065 semapv:UnspecifiedMatching MONDO:0016644 logopenic progressive aphasia skos:exactMatch DOID:0081389 logopenic progressive aphasia semapv:UnspecifiedMatching MONDO:0016644 logopenic progressive aphasia skos:exactMatch MEDGEN:907332 semapv:UnspecifiedMatching MONDO:0016644 logopenic progressive aphasia skos:exactMatch Orphanet:250831 Logopenic progressive aphasia semapv:UnspecifiedMatching MONDO:0016644 logopenic progressive aphasia skos:exactMatch SCTID:716380002 semapv:UnspecifiedMatching MONDO:0016644 logopenic progressive aphasia skos:exactMatch UMLS:C4274665 semapv:UnspecifiedMatching MONDO:0016645 obsolete rare neoplastic disease skos:exactMatch Orphanet:250908 Rare neoplastic disease semapv:UnspecifiedMatching MONDO:0016646 autosomal dominant optic atrophy and peripheral neuropathy skos:exactMatch MEDGEN:895207 semapv:UnspecifiedMatching MONDO:0016646 autosomal dominant optic atrophy and peripheral neuropathy skos:exactMatch Orphanet:250932 Autosomal dominant optic atrophy and peripheral neuropathy semapv:UnspecifiedMatching MONDO:0016646 autosomal dominant optic atrophy and peripheral neuropathy skos:exactMatch UMLS:C4273829 semapv:UnspecifiedMatching MONDO:0016647 obsolete autosomal recessive Stickler syndrome skos:exactMatch Orphanet:250984 Autosomal recessive Stickler syndrome semapv:UnspecifiedMatching MONDO:0016648 multiple epiphyseal dysplasia skos:exactMatch DOID:12721 multiple epiphyseal dysplasia semapv:UnspecifiedMatching MONDO:0016648 multiple epiphyseal dysplasia skos:exactMatch MEDGEN:6461 semapv:UnspecifiedMatching MONDO:0016648 multiple epiphyseal dysplasia skos:exactMatch OMIMPS:132400 Epiphyseal dysplasia, multiple semapv:UnspecifiedMatching MONDO:0016648 multiple epiphyseal dysplasia skos:exactMatch Orphanet:251 Multiple epiphyseal dysplasia semapv:UnspecifiedMatching MONDO:0016648 multiple epiphyseal dysplasia skos:exactMatch SCTID:59708000 semapv:UnspecifiedMatching MONDO:0016648 multiple epiphyseal dysplasia skos:exactMatch UMLS:C0026760 semapv:UnspecifiedMatching MONDO:0016648 multiple epiphyseal dysplasia skos:exactMatch icd11.foundation:2009123831 Multiple epiphyseal dysplasias semapv:UnspecifiedMatching MONDO:0016649 Warburg micro syndrome skos:exactMatch DOID:0060237 Warburg micro syndrome semapv:UnspecifiedMatching MONDO:0016649 Warburg micro syndrome skos:exactMatch MEDGEN:1781286 semapv:UnspecifiedMatching MONDO:0016649 Warburg micro syndrome skos:exactMatch OMIMPS:600118 Warburg micro syndrome semapv:UnspecifiedMatching MONDO:0016649 Warburg micro syndrome skos:exactMatch Orphanet:2510 Micro syndrome semapv:UnspecifiedMatching MONDO:0016649 Warburg micro syndrome skos:exactMatch UMLS:C5442005 semapv:UnspecifiedMatching MONDO:0016650 paternal uniparental disomy of chromosome 1 skos:exactMatch MEDGEN:1636519 semapv:UnspecifiedMatching MONDO:0016650 paternal uniparental disomy of chromosome 1 skos:exactMatch Orphanet:251004 Paternal uniparental disomy of chromosome 1 syndrome semapv:UnspecifiedMatching MONDO:0016650 paternal uniparental disomy of chromosome 1 skos:exactMatch SCTID:766719006 semapv:UnspecifiedMatching MONDO:0016650 paternal uniparental disomy of chromosome 1 skos:exactMatch UMLS:C4707800 semapv:UnspecifiedMatching MONDO:0016650 paternal uniparental disomy of chromosome 1 skos:exactMatch icd11.foundation:1239235576 Paternal uniparental disomy of chromosome 1 semapv:UnspecifiedMatching MONDO:0016651 maternal uniparental disomy of chromosome 1 skos:exactMatch MEDGEN:1665577 semapv:UnspecifiedMatching MONDO:0016651 maternal uniparental disomy of chromosome 1 skos:exactMatch Orphanet:251009 Maternal uniparental disomy of chromosome 1 syndrome semapv:UnspecifiedMatching MONDO:0016651 maternal uniparental disomy of chromosome 1 skos:exactMatch UMLS:C4749302 semapv:UnspecifiedMatching MONDO:0016651 maternal uniparental disomy of chromosome 1 skos:exactMatch icd11.foundation:351448323 Maternal uniparental disomy of chromosome 1 semapv:UnspecifiedMatching MONDO:0016652 2q31.1 microdeletion syndrome skos:exactMatch MEDGEN:899856 semapv:UnspecifiedMatching MONDO:0016652 2q31.1 microdeletion syndrome skos:exactMatch Orphanet:251014 2q31.1 microdeletion syndrome semapv:UnspecifiedMatching MONDO:0016652 2q31.1 microdeletion syndrome skos:exactMatch SCTID:716387004 semapv:UnspecifiedMatching MONDO:0016652 2q31.1 microdeletion syndrome skos:exactMatch UMLS:C4274647 semapv:UnspecifiedMatching MONDO:0016653 2q33.1 microdeletion syndrome skos:exactMatch MEDGEN:1645054 semapv:UnspecifiedMatching MONDO:0016653 2q33.1 microdeletion syndrome skos:exactMatch Orphanet:251028 SATB2-associated syndrome due to a chromosomal rearrangement semapv:UnspecifiedMatching MONDO:0016653 2q33.1 microdeletion syndrome skos:exactMatch SCTID:763062006 semapv:UnspecifiedMatching MONDO:0016653 2q33.1 microdeletion syndrome skos:exactMatch UMLS:C4706258 semapv:UnspecifiedMatching MONDO:0016654 ring chromosome 5 skos:exactMatch MEDGEN:881956 semapv:UnspecifiedMatching MONDO:0016654 ring chromosome 5 skos:exactMatch NCIT:C121984 ROSE Cluster 5 semapv:UnspecifiedMatching MONDO:0016654 ring chromosome 5 skos:exactMatch Orphanet:251043 Ring chromosome 5 syndrome semapv:UnspecifiedMatching MONDO:0016654 ring chromosome 5 skos:exactMatch SCTID:765487008 semapv:UnspecifiedMatching MONDO:0016654 ring chromosome 5 skos:exactMatch UMLS:C4050064 semapv:UnspecifiedMatching MONDO:0016655 6p22 microdeletion syndrome skos:exactMatch MEDGEN:930197 semapv:UnspecifiedMatching MONDO:0016655 6p22 microdeletion syndrome skos:exactMatch Orphanet:251046 6p22 microdeletion syndrome semapv:UnspecifiedMatching MONDO:0016655 6p22 microdeletion syndrome skos:exactMatch SCTID:719662000 semapv:UnspecifiedMatching MONDO:0016655 6p22 microdeletion syndrome skos:exactMatch UMLS:C4304528 semapv:UnspecifiedMatching MONDO:0016656 7q31 microdeletion syndrome skos:exactMatch MEDGEN:1664416 semapv:UnspecifiedMatching MONDO:0016656 7q31 microdeletion syndrome skos:exactMatch Orphanet:251061 7q31 microdeletion syndrome semapv:UnspecifiedMatching MONDO:0016656 7q31 microdeletion syndrome skos:exactMatch UMLS:C4750783 semapv:UnspecifiedMatching MONDO:0016657 8p11.2 deletion syndrome skos:exactMatch MEDGEN:930174 semapv:UnspecifiedMatching MONDO:0016657 8p11.2 deletion syndrome skos:exactMatch Orphanet:251066 8p11.2 deletion syndrome semapv:UnspecifiedMatching MONDO:0016657 8p11.2 deletion syndrome skos:exactMatch SCTID:719646006 semapv:UnspecifiedMatching MONDO:0016657 8p11.2 deletion syndrome skos:exactMatch UMLS:C4304505 semapv:UnspecifiedMatching MONDO:0016658 8p23.1 microdeletion syndrome skos:exactMatch MEDGEN:419458 semapv:UnspecifiedMatching MONDO:0016658 8p23.1 microdeletion syndrome skos:exactMatch Orphanet:251071 8p23.1 microdeletion syndrome semapv:UnspecifiedMatching MONDO:0016658 8p23.1 microdeletion syndrome skos:exactMatch SCTID:716381003 semapv:UnspecifiedMatching MONDO:0016658 8p23.1 microdeletion syndrome skos:exactMatch UMLS:C2931638 semapv:UnspecifiedMatching MONDO:0016658 8p23.1 microdeletion syndrome skos:exactMatch mesh:C537827 semapv:UnspecifiedMatching MONDO:0016659 8p23.1 duplication syndrome skos:exactMatch MEDGEN:1645138 semapv:UnspecifiedMatching MONDO:0016659 8p23.1 duplication syndrome skos:exactMatch Orphanet:251076 8p23.1 duplication syndrome semapv:UnspecifiedMatching MONDO:0016659 8p23.1 duplication syndrome skos:exactMatch SCTID:765140006 semapv:UnspecifiedMatching MONDO:0016659 8p23.1 duplication syndrome skos:exactMatch UMLS:C4707330 semapv:UnspecifiedMatching MONDO:0016660 autosomal recessive primary microcephaly skos:exactMatch DOID:0070296 autosomal recessive primary microcephaly semapv:UnspecifiedMatching MONDO:0016660 autosomal recessive primary microcephaly skos:exactMatch MEDGEN:777995 semapv:UnspecifiedMatching MONDO:0016660 autosomal recessive primary microcephaly skos:exactMatch OMIMPS:251200 Microcephaly, primary semapv:UnspecifiedMatching MONDO:0016660 autosomal recessive primary microcephaly skos:exactMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:UnspecifiedMatching MONDO:0016660 autosomal recessive primary microcephaly skos:exactMatch SCTID:715981004 semapv:UnspecifiedMatching MONDO:0016660 autosomal recessive primary microcephaly skos:exactMatch UMLS:C3711387 semapv:UnspecifiedMatching MONDO:0016660 autosomal recessive primary microcephaly skos:exactMatch mesh:C579935 semapv:UnspecifiedMatching MONDO:0016661 infantile onset panniculitis with uveitis and systemic granulomatosis skos:exactMatch MEDGEN:1670295 semapv:UnspecifiedMatching MONDO:0016661 infantile onset panniculitis with uveitis and systemic granulomatosis skos:exactMatch Orphanet:251304 Infantile onset panniculitis with uveitis and systemic granulomatosis semapv:UnspecifiedMatching MONDO:0016661 infantile onset panniculitis with uveitis and systemic granulomatosis skos:exactMatch UMLS:C4750785 semapv:UnspecifiedMatching MONDO:0016661 infantile onset panniculitis with uveitis and systemic granulomatosis skos:exactMatch icd11.foundation:1145994427 Infantile onset panniculitis with uveitis and systemic granulomatosis semapv:UnspecifiedMatching MONDO:0016662 idiopathic recurrent pericarditis skos:exactMatch MEDGEN:1642945 semapv:UnspecifiedMatching MONDO:0016662 idiopathic recurrent pericarditis skos:exactMatch Orphanet:251307 Idiopathic recurrent pericarditis semapv:UnspecifiedMatching MONDO:0016662 idiopathic recurrent pericarditis skos:exactMatch SCTID:766704005 semapv:UnspecifiedMatching MONDO:0016662 idiopathic recurrent pericarditis skos:exactMatch UMLS:C4707790 semapv:UnspecifiedMatching MONDO:0016663 overlapping connective tissue disease skos:exactMatch Orphanet:251312 Overlapping connective tissue disease semapv:UnspecifiedMatching MONDO:0016664 drug-induced vasculitis skos:exactMatch MEDGEN:573879 semapv:UnspecifiedMatching MONDO:0016664 drug-induced vasculitis skos:exactMatch NCIT:C112204 Drug Induced Cutaneous Vasculitis semapv:UnspecifiedMatching MONDO:0016664 drug-induced vasculitis skos:exactMatch Orphanet:251325 Drug-induced vasculitis semapv:UnspecifiedMatching MONDO:0016664 drug-induced vasculitis skos:exactMatch UMLS:C0340672 semapv:UnspecifiedMatching MONDO:0016664 drug-induced vasculitis skos:exactMatch icd11.foundation:1376183765 Drug-induced vasculitis semapv:UnspecifiedMatching MONDO:0016664 drug-induced vasculitis skos:exactMatch icd11.foundation:395268449 Drug-associated immune complex vasculitis semapv:UnspecifiedMatching MONDO:0016665 obsolete unclassified vasculitis skos:exactMatch Orphanet:251328 Unclassified vasculitis semapv:UnspecifiedMatching MONDO:0016666 unexplained long-lasting fever/inflammatory syndrome skos:exactMatch MEDGEN:1842329 semapv:UnspecifiedMatching MONDO:0016666 unexplained long-lasting fever/inflammatory syndrome skos:exactMatch Orphanet:251332 Unexplained long-lasting fever/inflammatory syndrome semapv:UnspecifiedMatching MONDO:0016666 unexplained long-lasting fever/inflammatory syndrome skos:exactMatch UMLS:C5679630 semapv:UnspecifiedMatching MONDO:0016667 obsolete sickle cell disease associated with an other hemoglobin anomaly skos:exactMatch Orphanet:251355 OBSOLETE: Sickle cell disease associated with another hemoglobin anomaly semapv:UnspecifiedMatching MONDO:0016668 sickle cell-beta-thalassemia disease syndrome skos:exactMatch MEDGEN:452211 semapv:UnspecifiedMatching MONDO:0016668 sickle cell-beta-thalassemia disease syndrome skos:exactMatch NCIT:C95539 Sickle Beta Thalassemia semapv:UnspecifiedMatching MONDO:0016668 sickle cell-beta-thalassemia disease syndrome skos:exactMatch Orphanet:251359 Sickle cell-beta-thalassemia disease syndrome semapv:UnspecifiedMatching MONDO:0016668 sickle cell-beta-thalassemia disease syndrome skos:exactMatch SCTID:127041004 semapv:UnspecifiedMatching MONDO:0016668 sickle cell-beta-thalassemia disease syndrome skos:exactMatch UMLS:C0221019 semapv:UnspecifiedMatching MONDO:0016669 sickle cell-hemoglobin c disease syndrome skos:exactMatch MEDGEN:5496 semapv:UnspecifiedMatching MONDO:0016669 sickle cell-hemoglobin c disease syndrome skos:exactMatch Orphanet:251365 Sickle cell S-C disease semapv:UnspecifiedMatching MONDO:0016669 sickle cell-hemoglobin c disease syndrome skos:exactMatch UMLS:C0019034 semapv:UnspecifiedMatching MONDO:0016670 sickle cell-hemoglobin d disease syndrome skos:exactMatch MEDGEN:452366 semapv:UnspecifiedMatching MONDO:0016670 sickle cell-hemoglobin d disease syndrome skos:exactMatch Orphanet:251370 Sickle cell S-D Punjab disease semapv:UnspecifiedMatching MONDO:0016670 sickle cell-hemoglobin d disease syndrome skos:exactMatch UMLS:C0272084 semapv:UnspecifiedMatching MONDO:0016671 sickle cell-hemoglobin E disease syndrome skos:exactMatch MEDGEN:1669602 semapv:UnspecifiedMatching MONDO:0016671 sickle cell-hemoglobin E disease syndrome skos:exactMatch Orphanet:251375 Sickle cell S-E disease semapv:UnspecifiedMatching MONDO:0016671 sickle cell-hemoglobin E disease syndrome skos:exactMatch UMLS:C1112747 semapv:UnspecifiedMatching MONDO:0016672 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome skos:exactMatch MEDGEN:1679967 semapv:UnspecifiedMatching MONDO:0016672 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome skos:exactMatch Orphanet:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome semapv:UnspecifiedMatching MONDO:0016672 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome skos:exactMatch UMLS:C5190890 semapv:UnspecifiedMatching MONDO:0016673 localized junctional epidermolysis bullosa, non-Herlitz type skos:exactMatch MEDGEN:1814511 semapv:UnspecifiedMatching MONDO:0016673 localized junctional epidermolysis bullosa, non-Herlitz type skos:exactMatch Orphanet:251393 Localized junctional epidermolysis bullosa semapv:UnspecifiedMatching MONDO:0016673 localized junctional epidermolysis bullosa, non-Herlitz type skos:exactMatch UMLS:C5700116 semapv:UnspecifiedMatching MONDO:0016674 46,XY partial gonadal dysgenesis skos:exactMatch MEDGEN:1388250 semapv:UnspecifiedMatching MONDO:0016674 46,XY partial gonadal dysgenesis skos:exactMatch Orphanet:251510 46,XY partial gonadal dysgenesis semapv:UnspecifiedMatching MONDO:0016674 46,XY partial gonadal dysgenesis skos:exactMatch SCTID:725045004 semapv:UnspecifiedMatching MONDO:0016674 46,XY partial gonadal dysgenesis skos:exactMatch UMLS:C4510744 semapv:UnspecifiedMatching MONDO:0016675 distal arthrogryposis type 10 skos:exactMatch DOID:0111593 distal arthrogryposis type 10 semapv:UnspecifiedMatching MONDO:0016675 distal arthrogryposis type 10 skos:exactMatch MEDGEN:349990 semapv:UnspecifiedMatching MONDO:0016675 distal arthrogryposis type 10 skos:exactMatch OMIM:187370 arthrogryposis, distal, type 10 semapv:UnspecifiedMatching MONDO:0016675 distal arthrogryposis type 10 skos:exactMatch Orphanet:251515 Distal arthrogryposis type 10 semapv:UnspecifiedMatching MONDO:0016675 distal arthrogryposis type 10 skos:exactMatch SCTID:275336002 semapv:UnspecifiedMatching MONDO:0016675 distal arthrogryposis type 10 skos:exactMatch UMLS:C1861238 semapv:UnspecifiedMatching MONDO:0016675 distal arthrogryposis type 10 skos:exactMatch mesh:C566069 semapv:UnspecifiedMatching MONDO:0016677 toxic or drug-related embryofetopathy skos:exactMatch MEDGEN:1843068 semapv:UnspecifiedMatching MONDO:0016677 toxic or drug-related embryofetopathy skos:exactMatch Orphanet:251529 Toxic or drug-related embryofetopathy semapv:UnspecifiedMatching MONDO:0016677 toxic or drug-related embryofetopathy skos:exactMatch UMLS:C5680710 semapv:UnspecifiedMatching MONDO:0016677 toxic or drug-related embryofetopathy skos:exactMatch icd11.foundation:293076727 Toxic or drug-related embryofetopathies semapv:UnspecifiedMatching MONDO:0016677 toxic or drug-related embryofetopathy skos:exactMatch mesh:D000014 semapv:UnspecifiedMatching MONDO:0016678 obsolete maternal disease-related embryofetopathy skos:exactMatch Orphanet:251535 Maternal disease-related embryofetopathy semapv:UnspecifiedMatching MONDO:0016679 obsolete rare tumor of neuroepithelial tissue skos:exactMatch Orphanet:251558 Rare tumor of neuroepithelial tissue semapv:UnspecifiedMatching MONDO:0016680 high grade astrocytic tumor skos:exactMatch MEDGEN:769639 semapv:UnspecifiedMatching MONDO:0016680 high grade astrocytic tumor skos:exactMatch NCIT:C102897 High Grade Astrocytic Tumor semapv:UnspecifiedMatching MONDO:0016680 high grade astrocytic tumor skos:exactMatch Orphanet:251561 High-grade astrocytoma semapv:UnspecifiedMatching MONDO:0016680 high grade astrocytic tumor skos:exactMatch UMLS:C3640999 semapv:UnspecifiedMatching MONDO:0016681 gliosarcoma skos:exactMatch DOID:3071 gliosarcoma semapv:UnspecifiedMatching MONDO:0016681 gliosarcoma skos:exactMatch EFO:1001465 semapv:UnspecifiedMatching MONDO:0016681 gliosarcoma skos:exactMatch MEDGEN:64638 semapv:UnspecifiedMatching MONDO:0016681 gliosarcoma skos:exactMatch NCIT:C3796 Gliosarcoma semapv:UnspecifiedMatching MONDO:0016681 gliosarcoma skos:exactMatch Orphanet:251576 Gliosarcoma semapv:UnspecifiedMatching MONDO:0016681 gliosarcoma skos:exactMatch UMLS:C0206726 semapv:UnspecifiedMatching MONDO:0016681 gliosarcoma skos:exactMatch mesh:D018316 semapv:UnspecifiedMatching MONDO:0016682 giant cell glioblastoma skos:exactMatch DOID:3074 giant cell glioblastoma semapv:UnspecifiedMatching MONDO:0016682 giant cell glioblastoma skos:exactMatch MEDGEN:83169 semapv:UnspecifiedMatching MONDO:0016682 giant cell glioblastoma skos:exactMatch NCIT:C4325 Giant Cell Glioblastoma semapv:UnspecifiedMatching MONDO:0016682 giant cell glioblastoma skos:exactMatch Orphanet:251579 Giant cell glioblastoma semapv:UnspecifiedMatching MONDO:0016682 giant cell glioblastoma skos:exactMatch UMLS:C0334588 semapv:UnspecifiedMatching MONDO:0016682 giant cell glioblastoma skos:exactMatch icd11.foundation:565094124 Giant cell glioblastoma semapv:UnspecifiedMatching MONDO:0016683 gliomatosis cerebri skos:exactMatch DOID:6128 gliomatosis cerebri semapv:UnspecifiedMatching MONDO:0016683 gliomatosis cerebri skos:exactMatch MEDGEN:87267 semapv:UnspecifiedMatching MONDO:0016683 gliomatosis cerebri skos:exactMatch NCIT:C4318 Gliomatosis Cerebri semapv:UnspecifiedMatching MONDO:0016683 gliomatosis cerebri skos:exactMatch Orphanet:251582 Gliomatosis cerebri semapv:UnspecifiedMatching MONDO:0016683 gliomatosis cerebri skos:exactMatch UMLS:C0334576 semapv:UnspecifiedMatching MONDO:0016683 gliomatosis cerebri skos:exactMatch icd11.foundation:373131154 Gliomatosis cerebri semapv:UnspecifiedMatching MONDO:0016684 anaplastic astrocytoma skos:exactMatch DOID:3078 anaplastic astrocytoma semapv:UnspecifiedMatching MONDO:0016684 anaplastic astrocytoma skos:exactMatch EFO:0002499 semapv:UnspecifiedMatching MONDO:0016684 anaplastic astrocytoma skos:exactMatch MEDGEN:137784 semapv:UnspecifiedMatching MONDO:0016684 anaplastic astrocytoma skos:exactMatch NCIT:C9477 Anaplastic Astrocytoma semapv:UnspecifiedMatching MONDO:0016684 anaplastic astrocytoma skos:exactMatch Orphanet:251589 Anaplastic astrocytoma semapv:UnspecifiedMatching MONDO:0016684 anaplastic astrocytoma skos:exactMatch UMLS:C0334579 semapv:UnspecifiedMatching MONDO:0016685 low-grade astrocytoma skos:exactMatch MEDGEN:727259 semapv:UnspecifiedMatching MONDO:0016685 low-grade astrocytoma skos:exactMatch Orphanet:251592 Low-grade astrocytoma semapv:UnspecifiedMatching MONDO:0016685 low-grade astrocytoma skos:exactMatch UMLS:C1314694 semapv:UnspecifiedMatching MONDO:0016686 diffuse astrocytoma skos:exactMatch DOID:4857 diffuse astrocytoma semapv:UnspecifiedMatching MONDO:0016686 diffuse astrocytoma skos:exactMatch MEDGEN:83708 semapv:UnspecifiedMatching MONDO:0016686 diffuse astrocytoma skos:exactMatch NCIT:C7173 Diffuse Astrocytoma semapv:UnspecifiedMatching MONDO:0016686 diffuse astrocytoma skos:exactMatch Orphanet:251595 Diffuse astrocytoma semapv:UnspecifiedMatching MONDO:0016686 diffuse astrocytoma skos:exactMatch UMLS:C0280785 semapv:UnspecifiedMatching MONDO:0016687 protoplasmic astrocytoma skos:exactMatch DOID:7008 protoplasmic astrocytoma semapv:UnspecifiedMatching MONDO:0016687 protoplasmic astrocytoma skos:exactMatch MEDGEN:87268 semapv:UnspecifiedMatching MONDO:0016687 protoplasmic astrocytoma skos:exactMatch NCIT:C4320 Protoplasmic Astrocytoma semapv:UnspecifiedMatching MONDO:0016687 protoplasmic astrocytoma skos:exactMatch Orphanet:251598 Protoplasmic astrocytoma semapv:UnspecifiedMatching MONDO:0016687 protoplasmic astrocytoma skos:exactMatch UMLS:C0334580 semapv:UnspecifiedMatching MONDO:0016688 fibrillary astrocytoma skos:exactMatch DOID:6726 fibrillary astrocytoma semapv:UnspecifiedMatching MONDO:0016688 fibrillary astrocytoma skos:exactMatch MEDGEN:87270 semapv:UnspecifiedMatching MONDO:0016688 fibrillary astrocytoma skos:exactMatch NCIT:C4322 Fibrillary Astrocytoma semapv:UnspecifiedMatching MONDO:0016688 fibrillary astrocytoma skos:exactMatch Orphanet:251601 Fibrillary astrocytoma semapv:UnspecifiedMatching MONDO:0016688 fibrillary astrocytoma skos:exactMatch UMLS:C0334582 semapv:UnspecifiedMatching MONDO:0016689 gemistocytic astrocytoma skos:exactMatch DOID:7005 gemistocytic astrocytoma semapv:UnspecifiedMatching MONDO:0016689 gemistocytic astrocytoma skos:exactMatch MEDGEN:87269 semapv:UnspecifiedMatching MONDO:0016689 gemistocytic astrocytoma skos:exactMatch NCIT:C4321 Gemistocytic Astrocytoma semapv:UnspecifiedMatching MONDO:0016689 gemistocytic astrocytoma skos:exactMatch Orphanet:251604 Gemistocytic astrocytoma semapv:UnspecifiedMatching MONDO:0016689 gemistocytic astrocytoma skos:exactMatch UMLS:C0334581 semapv:UnspecifiedMatching MONDO:0016690 pleomorphic xanthoastrocytoma skos:exactMatch DOID:4852 pleomorphic xanthoastrocytoma semapv:UnspecifiedMatching MONDO:0016690 pleomorphic xanthoastrocytoma skos:exactMatch MEDGEN:137786 semapv:UnspecifiedMatching MONDO:0016690 pleomorphic xanthoastrocytoma skos:exactMatch NCIT:C4323 Pleomorphic Xanthoastrocytoma semapv:UnspecifiedMatching MONDO:0016690 pleomorphic xanthoastrocytoma skos:exactMatch Orphanet:251607 Pleomorphic xanthoastrocytoma semapv:UnspecifiedMatching MONDO:0016690 pleomorphic xanthoastrocytoma skos:exactMatch UMLS:C0334586 semapv:UnspecifiedMatching MONDO:0016691 pilocytic astrocytoma skos:exactMatch DOID:4851 pilocytic astrocytoma semapv:UnspecifiedMatching MONDO:0016691 pilocytic astrocytoma skos:exactMatch MEDGEN:87271 semapv:UnspecifiedMatching MONDO:0016691 pilocytic astrocytoma skos:exactMatch NCIT:C4047 Pilocytic Astrocytoma semapv:UnspecifiedMatching MONDO:0016691 pilocytic astrocytoma skos:exactMatch Orphanet:251612 Pilocytic astrocytoma semapv:UnspecifiedMatching MONDO:0016691 pilocytic astrocytoma skos:exactMatch SCTID:763865009 semapv:UnspecifiedMatching MONDO:0016691 pilocytic astrocytoma skos:exactMatch UMLS:C0334583 semapv:UnspecifiedMatching MONDO:0016692 pilomyxoid astrocytoma skos:exactMatch DOID:4845 pilomyxoid astrocytoma semapv:UnspecifiedMatching MONDO:0016692 pilomyxoid astrocytoma skos:exactMatch MEDGEN:276757 semapv:UnspecifiedMatching MONDO:0016692 pilomyxoid astrocytoma skos:exactMatch NCIT:C40315 Pilomyxoid Astrocytoma semapv:UnspecifiedMatching MONDO:0016692 pilomyxoid astrocytoma skos:exactMatch Orphanet:251615 Pilomyxoid astrocytoma semapv:UnspecifiedMatching MONDO:0016692 pilomyxoid astrocytoma skos:exactMatch UMLS:C1519086 semapv:UnspecifiedMatching MONDO:0016693 subependymal giant cell astrocytoma skos:exactMatch DOID:5077 subependymal giant cell astrocytoma semapv:UnspecifiedMatching MONDO:0016693 subependymal giant cell astrocytoma skos:exactMatch MEDGEN:61446 semapv:UnspecifiedMatching MONDO:0016693 subependymal giant cell astrocytoma skos:exactMatch NCIT:C3696 Subependymal Giant Cell Astrocytoma semapv:UnspecifiedMatching MONDO:0016693 subependymal giant cell astrocytoma skos:exactMatch Orphanet:251618 Subependymal giant cell astrocytoma semapv:UnspecifiedMatching MONDO:0016693 subependymal giant cell astrocytoma skos:exactMatch SCTID:449799008 semapv:UnspecifiedMatching MONDO:0016693 subependymal giant cell astrocytoma skos:exactMatch UMLS:C0205768 semapv:UnspecifiedMatching MONDO:0016695 oligodendroglioma skos:exactMatch DOID:3181 oligodendroglioma semapv:UnspecifiedMatching MONDO:0016695 oligodendroglioma skos:exactMatch EFO:0000632 semapv:UnspecifiedMatching MONDO:0016695 oligodendroglioma skos:exactMatch MEDGEN:45190 semapv:UnspecifiedMatching MONDO:0016695 oligodendroglioma skos:exactMatch NCIT:C3288 Oligodendroglioma semapv:UnspecifiedMatching MONDO:0016695 oligodendroglioma skos:exactMatch Orphanet:251627 Oligodendroglioma semapv:UnspecifiedMatching MONDO:0016695 oligodendroglioma skos:exactMatch UMLS:C0028945 semapv:UnspecifiedMatching MONDO:0016695 oligodendroglioma skos:exactMatch mesh:D009837 semapv:UnspecifiedMatching MONDO:0016696 anaplastic oligodendroglioma skos:exactMatch DOID:7154 anaplastic oligodendroglioma semapv:UnspecifiedMatching MONDO:0016696 anaplastic oligodendroglioma skos:exactMatch EFO:0002501 semapv:UnspecifiedMatching MONDO:0016696 anaplastic oligodendroglioma skos:exactMatch MEDGEN:90812 semapv:UnspecifiedMatching MONDO:0016696 anaplastic oligodendroglioma skos:exactMatch NCIT:C4326 Anaplastic Oligodendroglioma semapv:UnspecifiedMatching MONDO:0016696 anaplastic oligodendroglioma skos:exactMatch Orphanet:251630 Anaplastic oligodendroglioma semapv:UnspecifiedMatching MONDO:0016696 anaplastic oligodendroglioma skos:exactMatch UMLS:C0334590 semapv:UnspecifiedMatching MONDO:0016697 low grade ependymoma skos:exactMatch icd11.foundation:641455939 Low grade ependymoma semapv:UnspecifiedMatching MONDO:0016698 ependymoma skos:exactMatch DOID:4844 benign ependymoma semapv:UnspecifiedMatching MONDO:0016698 ependymoma skos:exactMatch EFO:1000028 semapv:UnspecifiedMatching MONDO:0016698 ependymoma skos:exactMatch MEDGEN:41825 semapv:UnspecifiedMatching MONDO:0016698 ependymoma skos:exactMatch NCIT:C3017 Ependymoma semapv:UnspecifiedMatching MONDO:0016698 ependymoma skos:exactMatch Orphanet:251636 Ependymoma semapv:UnspecifiedMatching MONDO:0016698 ependymoma skos:exactMatch UMLS:C0014474 semapv:UnspecifiedMatching MONDO:0016698 ependymoma skos:exactMatch mesh:D004806 semapv:UnspecifiedMatching MONDO:0016699 myxopapillary ependymoma skos:exactMatch DOID:5075 myxopapillary ependymoma semapv:UnspecifiedMatching MONDO:0016699 myxopapillary ependymoma skos:exactMatch MEDGEN:104717 semapv:UnspecifiedMatching MONDO:0016699 myxopapillary ependymoma skos:exactMatch NCIT:C3697 Myxopapillary Ependymoma semapv:UnspecifiedMatching MONDO:0016699 myxopapillary ependymoma skos:exactMatch Orphanet:251643 Myxopapillary ependymoma semapv:UnspecifiedMatching MONDO:0016699 myxopapillary ependymoma skos:exactMatch UMLS:C0205769 semapv:UnspecifiedMatching MONDO:0016700 anaplastic ependymoma skos:exactMatch DOID:5074 high grade ependymoma semapv:UnspecifiedMatching MONDO:0016700 anaplastic ependymoma skos:exactMatch DOID:5889 anaplastic ependymoma semapv:UnspecifiedMatching MONDO:0016700 anaplastic ependymoma skos:exactMatch MEDGEN:128891 semapv:UnspecifiedMatching MONDO:0016700 anaplastic ependymoma skos:exactMatch NCIT:C4049 Anaplastic Ependymoma semapv:UnspecifiedMatching MONDO:0016700 anaplastic ependymoma skos:exactMatch Orphanet:251646 Anaplastic ependymoma semapv:UnspecifiedMatching MONDO:0016700 anaplastic ependymoma skos:exactMatch UMLS:C0280788 semapv:UnspecifiedMatching MONDO:0016701 obsolete oligoastrocytic tumor skos:exactMatch Orphanet:251651 Oligoastrocytic tumor semapv:UnspecifiedMatching MONDO:0016702 oligoastrocytoma skos:exactMatch DOID:7912 mixed oligodendroglioma-astrocytoma semapv:UnspecifiedMatching MONDO:0016702 oligoastrocytoma skos:exactMatch EFO:0000630 semapv:UnspecifiedMatching MONDO:0016702 oligoastrocytoma skos:exactMatch MEDGEN:154285 semapv:UnspecifiedMatching MONDO:0016702 oligoastrocytoma skos:exactMatch NCIT:C4050 Oligoastrocytoma semapv:UnspecifiedMatching MONDO:0016702 oligoastrocytoma skos:exactMatch Orphanet:251656 Oligoastrocytoma semapv:UnspecifiedMatching MONDO:0016702 oligoastrocytoma skos:exactMatch SCTID:716647001 semapv:UnspecifiedMatching MONDO:0016702 oligoastrocytoma skos:exactMatch UMLS:C0547065 semapv:UnspecifiedMatching MONDO:0016703 anaplastic oligoastrocytoma skos:exactMatch EFO:0002500 semapv:UnspecifiedMatching MONDO:0016703 anaplastic oligoastrocytoma skos:exactMatch MEDGEN:96556 semapv:UnspecifiedMatching MONDO:0016703 anaplastic oligoastrocytoma skos:exactMatch NCIT:C6959 Anaplastic Oligoastrocytoma semapv:UnspecifiedMatching MONDO:0016703 anaplastic oligoastrocytoma skos:exactMatch Orphanet:251663 Anaplastic oligoastrocytoma semapv:UnspecifiedMatching MONDO:0016703 anaplastic oligoastrocytoma skos:exactMatch UMLS:C0431108 semapv:UnspecifiedMatching MONDO:0016704 obsolete glial tumor of neuroepithelial tissue with unknown origin skos:exactMatch Orphanet:251668 Glial tumor of neuroepithelial tissue with unknown origin semapv:UnspecifiedMatching MONDO:0016705 angiocentric glioma skos:exactMatch DOID:0081261 angiocentric glioma semapv:UnspecifiedMatching MONDO:0016705 angiocentric glioma skos:exactMatch MEDGEN:453267 semapv:UnspecifiedMatching MONDO:0016705 angiocentric glioma skos:exactMatch NCIT:C92552 Angiocentric Glioma semapv:UnspecifiedMatching MONDO:0016705 angiocentric glioma skos:exactMatch Orphanet:251671 Angiocentric glioma semapv:UnspecifiedMatching MONDO:0016705 angiocentric glioma skos:exactMatch UMLS:C2363903 semapv:UnspecifiedMatching MONDO:0016706 chordoid glioma of the third ventricle skos:exactMatch DOID:3774 chordoid glioma semapv:UnspecifiedMatching MONDO:0016706 chordoid glioma of the third ventricle skos:exactMatch MEDGEN:232956 semapv:UnspecifiedMatching MONDO:0016706 chordoid glioma of the third ventricle skos:exactMatch NCIT:C5592 Chordoid Glioma semapv:UnspecifiedMatching MONDO:0016706 chordoid glioma of the third ventricle skos:exactMatch Orphanet:251674 Chordoid glioma semapv:UnspecifiedMatching MONDO:0016706 chordoid glioma of the third ventricle skos:exactMatch SCTID:715900001 semapv:UnspecifiedMatching MONDO:0016706 chordoid glioma of the third ventricle skos:exactMatch UMLS:C1322252 semapv:UnspecifiedMatching MONDO:0016707 astroblastoma skos:exactMatch DOID:7305 astroblastoma semapv:UnspecifiedMatching MONDO:0016707 astroblastoma skos:exactMatch MEDGEN:90811 semapv:UnspecifiedMatching MONDO:0016707 astroblastoma skos:exactMatch NCIT:C4324 Astroblastoma, MN1-Altered semapv:UnspecifiedMatching MONDO:0016707 astroblastoma skos:exactMatch Orphanet:251679 Astroblastoma semapv:UnspecifiedMatching MONDO:0016707 astroblastoma skos:exactMatch UMLS:C0334587 semapv:UnspecifiedMatching MONDO:0016707 astroblastoma skos:exactMatch icd11.foundation:2011571705 semapv:UnspecifiedMatching MONDO:0016707 astroblastoma skos:exactMatch icd11.foundation:96344074 Astroblastoma of the brain semapv:UnspecifiedMatching MONDO:0016708 obsolete embryonal tumor of neuroepithelial tissue skos:exactMatch Orphanet:251852 Embryonal tumor of neuroepithelial tissue semapv:UnspecifiedMatching MONDO:0016709 anaplastic/large cell medulloblastoma skos:exactMatch MEDGEN:1389864 semapv:UnspecifiedMatching MONDO:0016709 anaplastic/large cell medulloblastoma skos:exactMatch NCIT:C129436 Large Cell/Anaplastic Medulloblastoma semapv:UnspecifiedMatching MONDO:0016709 anaplastic/large cell medulloblastoma skos:exactMatch Orphanet:251855 Anaplastic/large cell medulloblastoma semapv:UnspecifiedMatching MONDO:0016709 anaplastic/large cell medulloblastoma skos:exactMatch UMLS:C4330531 semapv:UnspecifiedMatching MONDO:0016710 medulloblastoma with extensive nodularity skos:exactMatch DOID:3873 desmoplastic/nodular medulloblastoma semapv:UnspecifiedMatching MONDO:0016710 medulloblastoma with extensive nodularity skos:exactMatch MEDGEN:233759 semapv:UnspecifiedMatching MONDO:0016710 medulloblastoma with extensive nodularity skos:exactMatch NCIT:C5407 Medulloblastoma with Extensive Nodularity semapv:UnspecifiedMatching MONDO:0016710 medulloblastoma with extensive nodularity skos:exactMatch Orphanet:251858 Medulloblastoma with extensive nodularity semapv:UnspecifiedMatching MONDO:0016710 medulloblastoma with extensive nodularity skos:exactMatch UMLS:C1334970 semapv:UnspecifiedMatching MONDO:0016711 desmoplastic/nodular medulloblastoma skos:exactMatch MEDGEN:148272 semapv:UnspecifiedMatching MONDO:0016711 desmoplastic/nodular medulloblastoma skos:exactMatch NCIT:C4956 Desmoplastic/Nodular Medulloblastoma semapv:UnspecifiedMatching MONDO:0016711 desmoplastic/nodular medulloblastoma skos:exactMatch Orphanet:251863 Desmoplastic/nodular medulloblastoma semapv:UnspecifiedMatching MONDO:0016711 desmoplastic/nodular medulloblastoma skos:exactMatch UMLS:C0751291 semapv:UnspecifiedMatching MONDO:0016712 classic medulloblastoma skos:exactMatch MEDGEN:353541 semapv:UnspecifiedMatching MONDO:0016712 classic medulloblastoma skos:exactMatch NCIT:C54039 Classic Medulloblastoma semapv:UnspecifiedMatching MONDO:0016712 classic medulloblastoma skos:exactMatch Orphanet:251867 Classic medulloblastoma semapv:UnspecifiedMatching MONDO:0016712 classic medulloblastoma skos:exactMatch SCTID:699704002 semapv:UnspecifiedMatching MONDO:0016712 classic medulloblastoma skos:exactMatch UMLS:C1707400 semapv:UnspecifiedMatching MONDO:0016712 classic medulloblastoma skos:exactMatch icd11.foundation:1548011794 Classic medulloblastoma semapv:UnspecifiedMatching MONDO:0016713 central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor skos:exactMatch MEDGEN:1389430 semapv:UnspecifiedMatching MONDO:0016713 central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor skos:exactMatch NCIT:C129537 Central Nervous System Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor semapv:UnspecifiedMatching MONDO:0016713 central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor skos:exactMatch Orphanet:251870 Central nervous system embryonal tumor semapv:UnspecifiedMatching MONDO:0016713 central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor skos:exactMatch UMLS:C4329632 semapv:UnspecifiedMatching MONDO:0016715 ependymoblastoma skos:exactMatch DOID:0080903 embryonal tumor with multilayered rosettes, C19MC-altered semapv:UnspecifiedMatching MONDO:0016715 ependymoblastoma skos:exactMatch MEDGEN:152150 semapv:UnspecifiedMatching MONDO:0016715 ependymoblastoma skos:exactMatch NCIT:C4915 Embryonal Tumor with Multilayered Rosettes, C19MC-Altered semapv:UnspecifiedMatching MONDO:0016715 ependymoblastoma skos:exactMatch SCTID:715901002 semapv:UnspecifiedMatching MONDO:0016715 ependymoblastoma skos:exactMatch UMLS:C0700367 semapv:UnspecifiedMatching MONDO:0016717 choroid plexus neoplasm skos:exactMatch MEDGEN:38980 semapv:UnspecifiedMatching MONDO:0016717 choroid plexus neoplasm skos:exactMatch NCIT:C3473 Choroid Plexus Neoplasm semapv:UnspecifiedMatching MONDO:0016717 choroid plexus neoplasm skos:exactMatch Orphanet:251896 Choroid plexus tumor semapv:UnspecifiedMatching MONDO:0016717 choroid plexus neoplasm skos:exactMatch SCTID:254942002 semapv:UnspecifiedMatching MONDO:0016717 choroid plexus neoplasm skos:exactMatch UMLS:C0085138 semapv:UnspecifiedMatching MONDO:0016717 choroid plexus neoplasm skos:exactMatch icd11.foundation:1959912502 Choroid plexus tumours semapv:UnspecifiedMatching MONDO:0016718 choroid plexus carcinoma skos:exactMatch DOID:5648 choroid plexus carcinoma semapv:UnspecifiedMatching MONDO:0016718 choroid plexus carcinoma skos:exactMatch MEDGEN:96557 semapv:UnspecifiedMatching MONDO:0016718 choroid plexus carcinoma skos:exactMatch NCIT:C4715 Choroid Plexus Carcinoma semapv:UnspecifiedMatching MONDO:0016718 choroid plexus carcinoma skos:exactMatch Orphanet:251899 Choroid plexus carcinoma semapv:UnspecifiedMatching MONDO:0016718 choroid plexus carcinoma skos:exactMatch SCTID:188292007 semapv:UnspecifiedMatching MONDO:0016718 choroid plexus carcinoma skos:exactMatch UMLS:C0431109 semapv:UnspecifiedMatching MONDO:0016718 choroid plexus carcinoma skos:exactMatch icd11.foundation:1128449352 Choroid plexus carcinoma semapv:UnspecifiedMatching MONDO:0016718 choroid plexus carcinoma skos:exactMatch mesh:C562943 semapv:UnspecifiedMatching MONDO:0016719 microcephaly-seizures-intellectual disability-heart disease syndrome skos:exactMatch MEDGEN:419830 semapv:UnspecifiedMatching MONDO:0016719 microcephaly-seizures-intellectual disability-heart disease syndrome skos:exactMatch Orphanet:2519 Microcephaly-seizures-intellectual disability-heart disease syndrome semapv:UnspecifiedMatching MONDO:0016719 microcephaly-seizures-intellectual disability-heart disease syndrome skos:exactMatch UMLS:C2931529 semapv:UnspecifiedMatching MONDO:0016719 microcephaly-seizures-intellectual disability-heart disease syndrome skos:exactMatch mesh:C537544 semapv:UnspecifiedMatching MONDO:0016721 obsolete pineal tumor of neuroepithelial tissue skos:exactMatch Orphanet:251905 Pineal tumor of neuroepithelial tissue semapv:UnspecifiedMatching MONDO:0016722 pineoblastoma skos:exactMatch DOID:1664 pineoblastoma semapv:UnspecifiedMatching MONDO:0016722 pineoblastoma skos:exactMatch EFO:1000475 semapv:UnspecifiedMatching MONDO:0016722 pineoblastoma skos:exactMatch MEDGEN:104745 semapv:UnspecifiedMatching MONDO:0016722 pineoblastoma skos:exactMatch NCIT:C9344 Pineoblastoma semapv:UnspecifiedMatching MONDO:0016722 pineoblastoma skos:exactMatch Orphanet:251909 Pineoblastoma semapv:UnspecifiedMatching MONDO:0016722 pineoblastoma skos:exactMatch UMLS:C0205898 semapv:UnspecifiedMatching MONDO:0016723 pineocytoma skos:exactMatch DOID:0081248 pineocytoma semapv:UnspecifiedMatching MONDO:0016723 pineocytoma skos:exactMatch EFO:1000476 semapv:UnspecifiedMatching MONDO:0016723 pineocytoma skos:exactMatch MEDGEN:183004 semapv:UnspecifiedMatching MONDO:0016723 pineocytoma skos:exactMatch NCIT:C6966 Pineocytoma semapv:UnspecifiedMatching MONDO:0016723 pineocytoma skos:exactMatch Orphanet:251912 Pineocytoma semapv:UnspecifiedMatching MONDO:0016723 pineocytoma skos:exactMatch SCTID:255045009 semapv:UnspecifiedMatching MONDO:0016723 pineocytoma skos:exactMatch UMLS:C0917890 semapv:UnspecifiedMatching MONDO:0016723 pineocytoma skos:exactMatch icd11.foundation:2055142333 Pineocytoma semapv:UnspecifiedMatching MONDO:0016724 papillary tumor of the pineal region skos:exactMatch DOID:0081251 papillary tumor of the pineal region semapv:UnspecifiedMatching MONDO:0016724 papillary tumor of the pineal region skos:exactMatch MEDGEN:457445 semapv:UnspecifiedMatching MONDO:0016724 papillary tumor of the pineal region skos:exactMatch NCIT:C92624 Papillary Tumor of the Pineal Region semapv:UnspecifiedMatching MONDO:0016724 papillary tumor of the pineal region skos:exactMatch Orphanet:251915 Papillary tumor of the pineal region semapv:UnspecifiedMatching MONDO:0016724 papillary tumor of the pineal region skos:exactMatch UMLS:C2985219 semapv:UnspecifiedMatching MONDO:0016726 obsolete neuronal tumor skos:exactMatch Orphanet:251924 Neuronal tumor semapv:UnspecifiedMatching MONDO:0016727 extraventricular neurocytoma skos:exactMatch DOID:0081314 extraventricular neurocytoma semapv:UnspecifiedMatching MONDO:0016727 extraventricular neurocytoma skos:exactMatch MEDGEN:457401 semapv:UnspecifiedMatching MONDO:0016727 extraventricular neurocytoma skos:exactMatch NCIT:C92555 Extraventricular Neurocytoma semapv:UnspecifiedMatching MONDO:0016727 extraventricular neurocytoma skos:exactMatch Orphanet:251927 Extraventricular neurocytoma semapv:UnspecifiedMatching MONDO:0016727 extraventricular neurocytoma skos:exactMatch SCTID:716787002 semapv:UnspecifiedMatching MONDO:0016727 extraventricular neurocytoma skos:exactMatch UMLS:C2985175 semapv:UnspecifiedMatching MONDO:0016729 mixed neuronal-glial tumor skos:exactMatch MEDGEN:105377 semapv:UnspecifiedMatching MONDO:0016729 mixed neuronal-glial tumor skos:exactMatch NCIT:C4747 Glioneuronal and Neuronal Tumors semapv:UnspecifiedMatching MONDO:0016729 mixed neuronal-glial tumor skos:exactMatch Orphanet:251934 Mixed neuronal-glial tumor semapv:UnspecifiedMatching MONDO:0016729 mixed neuronal-glial tumor skos:exactMatch UMLS:C0474844 semapv:UnspecifiedMatching MONDO:0016729 mixed neuronal-glial tumor skos:exactMatch icd11.foundation:1792897751 Mixed neuronal-glial tumours semapv:UnspecifiedMatching MONDO:0016730 gangliocytoma skos:exactMatch DOID:2426 gangliocytoma semapv:UnspecifiedMatching MONDO:0016730 gangliocytoma skos:exactMatch MEDGEN:1830324 semapv:UnspecifiedMatching MONDO:0016730 gangliocytoma skos:exactMatch NCIT:C6934 Gangliocytoma semapv:UnspecifiedMatching MONDO:0016730 gangliocytoma skos:exactMatch Orphanet:251937 Gangliocytoma semapv:UnspecifiedMatching MONDO:0016730 gangliocytoma skos:exactMatch UMLS:C5779630 semapv:UnspecifiedMatching MONDO:0016730 gangliocytoma skos:exactMatch mesh:D005729 semapv:UnspecifiedMatching MONDO:0016731 desmoplastic infantile astrocytoma/ganglioglioma skos:exactMatch MEDGEN:1665232 semapv:UnspecifiedMatching MONDO:0016731 desmoplastic infantile astrocytoma/ganglioglioma skos:exactMatch Orphanet:251940 Desmoplastic infantile astrocytoma/ganglioglioma semapv:UnspecifiedMatching MONDO:0016731 desmoplastic infantile astrocytoma/ganglioglioma skos:exactMatch UMLS:C4757951 semapv:UnspecifiedMatching MONDO:0016733 ganglioglioma skos:exactMatch DOID:5078 ganglioglioma semapv:UnspecifiedMatching MONDO:0016733 ganglioglioma skos:exactMatch EFO:0003094 semapv:UnspecifiedMatching MONDO:0016733 ganglioglioma skos:exactMatch MEDGEN:60216 semapv:UnspecifiedMatching MONDO:0016733 ganglioglioma skos:exactMatch NCIT:C3788 Ganglioglioma semapv:UnspecifiedMatching MONDO:0016733 ganglioglioma skos:exactMatch Orphanet:251949 Ganglioglioma semapv:UnspecifiedMatching MONDO:0016733 ganglioglioma skos:exactMatch SCTID:87191000119100 semapv:UnspecifiedMatching MONDO:0016733 ganglioglioma skos:exactMatch UMLS:C0206716 semapv:UnspecifiedMatching MONDO:0016733 ganglioglioma skos:exactMatch icd11.foundation:1287417975 Ganglioglioma semapv:UnspecifiedMatching MONDO:0016733 ganglioglioma skos:exactMatch mesh:D018303 semapv:UnspecifiedMatching MONDO:0016734 anaplastic ganglioglioma skos:exactMatch MEDGEN:140906 semapv:UnspecifiedMatching MONDO:0016734 anaplastic ganglioglioma skos:exactMatch NCIT:C4717 Anaplastic Ganglioglioma semapv:UnspecifiedMatching MONDO:0016734 anaplastic ganglioglioma skos:exactMatch Orphanet:251957 Anaplastic ganglioglioma semapv:UnspecifiedMatching MONDO:0016734 anaplastic ganglioglioma skos:exactMatch UMLS:C0431112 semapv:UnspecifiedMatching MONDO:0016735 papillary glioneuronal tumor skos:exactMatch DOID:0081283 papillary glioneuronal tumor semapv:UnspecifiedMatching MONDO:0016735 papillary glioneuronal tumor skos:exactMatch MEDGEN:457400 semapv:UnspecifiedMatching MONDO:0016735 papillary glioneuronal tumor skos:exactMatch NCIT:C92554 Papillary Glioneuronal Tumor semapv:UnspecifiedMatching MONDO:0016735 papillary glioneuronal tumor skos:exactMatch Orphanet:251962 Papillary glioneuronal tumor semapv:UnspecifiedMatching MONDO:0016735 papillary glioneuronal tumor skos:exactMatch UMLS:C2985174 semapv:UnspecifiedMatching MONDO:0016736 rosette-forming glioneuronal tumor of fourth ventricule skos:exactMatch DOID:0081284 rosette-forming glioneuronal tumor semapv:UnspecifiedMatching MONDO:0016736 rosette-forming glioneuronal tumor of fourth ventricule skos:exactMatch MEDGEN:1377578 semapv:UnspecifiedMatching MONDO:0016736 rosette-forming glioneuronal tumor of fourth ventricule skos:exactMatch NCIT:C129431 Rosette-Forming Glioneuronal Tumor semapv:UnspecifiedMatching MONDO:0016736 rosette-forming glioneuronal tumor of fourth ventricule skos:exactMatch Orphanet:251975 Rosette-forming glioneuronal tumor semapv:UnspecifiedMatching MONDO:0016736 rosette-forming glioneuronal tumor of fourth ventricule skos:exactMatch UMLS:C4331262 semapv:UnspecifiedMatching MONDO:0016738 obsolete primary germ cell tumor of central nervous system skos:exactMatch Orphanet:251995 Primary germ cell tumor of central nervous system semapv:UnspecifiedMatching MONDO:0016739 yolk sac tumor of central nervous system skos:exactMatch MEDGEN:234492 semapv:UnspecifiedMatching MONDO:0016739 yolk sac tumor of central nervous system skos:exactMatch NCIT:C7011 Central Nervous System Yolk Sac Tumor semapv:UnspecifiedMatching MONDO:0016739 yolk sac tumor of central nervous system skos:exactMatch Orphanet:252006 Yolk sac tumor of central nervous system semapv:UnspecifiedMatching MONDO:0016739 yolk sac tumor of central nervous system skos:exactMatch UMLS:C1337040 semapv:UnspecifiedMatching MONDO:0016739 yolk sac tumor of central nervous system skos:exactMatch icd11.foundation:1023155823 Yolk sac tumour of the central nervous system semapv:UnspecifiedMatching MONDO:0016740 choriocarcinoma of the central nervous system skos:exactMatch MEDGEN:234100 semapv:UnspecifiedMatching MONDO:0016740 choriocarcinoma of the central nervous system skos:exactMatch NCIT:C7012 Central Nervous System Choriocarcinoma semapv:UnspecifiedMatching MONDO:0016740 choriocarcinoma of the central nervous system skos:exactMatch Orphanet:252015 Choriocarcinoma of the central nervous system semapv:UnspecifiedMatching MONDO:0016740 choriocarcinoma of the central nervous system skos:exactMatch UMLS:C1332876 semapv:UnspecifiedMatching MONDO:0016740 choriocarcinoma of the central nervous system skos:exactMatch icd11.foundation:511691786 Choriocarcinoma of the central nervous system semapv:UnspecifiedMatching MONDO:0016742 mixed germ cell tumor of central nervous system skos:exactMatch MEDGEN:233713 semapv:UnspecifiedMatching MONDO:0016742 mixed germ cell tumor of central nervous system skos:exactMatch NCIT:C7016 Central Nervous System Mixed Germ Cell Tumor semapv:UnspecifiedMatching MONDO:0016742 mixed germ cell tumor of central nervous system skos:exactMatch Orphanet:252021 Mixed germ cell tumor of central nervous system semapv:UnspecifiedMatching MONDO:0016742 mixed germ cell tumor of central nervous system skos:exactMatch UMLS:C1334785 semapv:UnspecifiedMatching MONDO:0016743 tumor of meninges skos:exactMatch EFO:0003851 semapv:UnspecifiedMatching MONDO:0016743 tumor of meninges skos:exactMatch MEDGEN:44353 semapv:UnspecifiedMatching MONDO:0016743 tumor of meninges skos:exactMatch NCIT:C3229 Meningeal Neoplasm semapv:UnspecifiedMatching MONDO:0016743 tumor of meninges skos:exactMatch Orphanet:252025 Tumor of meninges semapv:UnspecifiedMatching MONDO:0016743 tumor of meninges skos:exactMatch SCTID:126965008 semapv:UnspecifiedMatching MONDO:0016743 tumor of meninges skos:exactMatch UMLS:C0025284 semapv:UnspecifiedMatching MONDO:0016744 obsolete primary melanocytic tumor of central nervous system skos:exactMatch Orphanet:252028 Primary melanocytic tumor of central nervous system semapv:UnspecifiedMatching MONDO:0016745 diffuse leptomeningeal melanocytosis skos:exactMatch MEDGEN:1651380 semapv:UnspecifiedMatching MONDO:0016745 diffuse leptomeningeal melanocytosis skos:exactMatch Orphanet:252031 Diffuse leptomeningeal melanocytosis semapv:UnspecifiedMatching MONDO:0016745 diffuse leptomeningeal melanocytosis skos:exactMatch UMLS:C4749348 semapv:UnspecifiedMatching MONDO:0016746 meningeal melanocytoma skos:exactMatch DOID:5900 meningeal melanocytoma semapv:UnspecifiedMatching MONDO:0016746 meningeal melanocytoma skos:exactMatch MEDGEN:226842 semapv:UnspecifiedMatching MONDO:0016746 meningeal melanocytoma skos:exactMatch NCIT:C4662 Meningeal Melanocytoma semapv:UnspecifiedMatching MONDO:0016746 meningeal melanocytoma skos:exactMatch Orphanet:252046 Meningeal melanocytoma semapv:UnspecifiedMatching MONDO:0016746 meningeal melanocytoma skos:exactMatch SCTID:277527003 semapv:UnspecifiedMatching MONDO:0016746 meningeal melanocytoma skos:exactMatch UMLS:C1266113 semapv:UnspecifiedMatching MONDO:0016747 primary melanoma of the central nervous system skos:exactMatch MEDGEN:578849 semapv:UnspecifiedMatching MONDO:0016747 primary melanoma of the central nervous system skos:exactMatch Orphanet:252050 Primary melanoma of the central nervous system semapv:UnspecifiedMatching MONDO:0016747 primary melanoma of the central nervous system skos:exactMatch UMLS:C0349626 semapv:UnspecifiedMatching MONDO:0016747 primary melanoma of the central nervous system skos:exactMatch icd11.foundation:539210076 Primary melanoma of the central nervous system semapv:UnspecifiedMatching MONDO:0016748 hemangioblastoma skos:exactMatch DOID:5241 hemangioblastoma semapv:UnspecifiedMatching MONDO:0016748 hemangioblastoma skos:exactMatch MEDGEN:104929 semapv:UnspecifiedMatching MONDO:0016748 hemangioblastoma skos:exactMatch NCIT:C3801 Hemangioblastoma semapv:UnspecifiedMatching MONDO:0016748 hemangioblastoma skos:exactMatch Orphanet:252054 Hemangioblastoma semapv:UnspecifiedMatching MONDO:0016748 hemangioblastoma skos:exactMatch UMLS:C0206734 semapv:UnspecifiedMatching MONDO:0016748 hemangioblastoma skos:exactMatch mesh:D018325 semapv:UnspecifiedMatching MONDO:0016749 tumor of cranial and spinal nerves skos:exactMatch MEDGEN:1842705 semapv:UnspecifiedMatching MONDO:0016749 tumor of cranial and spinal nerves skos:exactMatch Orphanet:252057 Tumor of cranial and spinal nerves semapv:UnspecifiedMatching MONDO:0016749 tumor of cranial and spinal nerves skos:exactMatch UMLS:C5679636 semapv:UnspecifiedMatching MONDO:0016750 microcephaly-cleft palate syndrome skos:exactMatch MEDGEN:419293 semapv:UnspecifiedMatching MONDO:0016750 microcephaly-cleft palate syndrome skos:exactMatch Orphanet:2521 Microcephaly-cleft palate-abnormal retinal pigmentation syndrome semapv:UnspecifiedMatching MONDO:0016750 microcephaly-cleft palate syndrome skos:exactMatch SCTID:719394002 semapv:UnspecifiedMatching MONDO:0016750 microcephaly-cleft palate syndrome skos:exactMatch UMLS:C2930954 semapv:UnspecifiedMatching MONDO:0016750 microcephaly-cleft palate syndrome skos:exactMatch mesh:C535622 semapv:UnspecifiedMatching MONDO:0016751 malignant perineurioma skos:exactMatch MEDGEN:220432 semapv:UnspecifiedMatching MONDO:0016751 malignant perineurioma skos:exactMatch Orphanet:252128 Malignant peripheral nerve sheath tumor with perineurial differentiation semapv:UnspecifiedMatching MONDO:0016751 malignant perineurioma skos:exactMatch SCTID:761958009 semapv:UnspecifiedMatching MONDO:0016751 malignant perineurioma skos:exactMatch UMLS:C1266188 semapv:UnspecifiedMatching MONDO:0016751 malignant perineurioma skos:exactMatch icd11.foundation:986576766 Malignant perineurioma semapv:UnspecifiedMatching MONDO:0016752 benign peripheral nerve sheath tumor skos:exactMatch MEDGEN:1843306 semapv:UnspecifiedMatching MONDO:0016752 benign peripheral nerve sheath tumor skos:exactMatch Orphanet:252131 Benign peripheral nerve sheath tumor semapv:UnspecifiedMatching MONDO:0016752 benign peripheral nerve sheath tumor skos:exactMatch UMLS:C5577926 semapv:UnspecifiedMatching MONDO:0016755 neurofibroma skos:exactMatch DOID:962 neurofibroma semapv:UnspecifiedMatching MONDO:0016755 neurofibroma skos:exactMatch MEDGEN:45058 semapv:UnspecifiedMatching MONDO:0016755 neurofibroma skos:exactMatch NCIT:C3272 Neurofibroma semapv:UnspecifiedMatching MONDO:0016755 neurofibroma skos:exactMatch Orphanet:252183 Neurofibroma semapv:UnspecifiedMatching MONDO:0016755 neurofibroma skos:exactMatch SCTID:404029005 semapv:UnspecifiedMatching MONDO:0016755 neurofibroma skos:exactMatch UMLS:C0027830 semapv:UnspecifiedMatching MONDO:0016755 neurofibroma skos:exactMatch icd11.foundation:221014277 Neurofibroma semapv:UnspecifiedMatching MONDO:0016755 neurofibroma skos:exactMatch mesh:D009455 semapv:UnspecifiedMatching MONDO:0016756 obsolete inherited nervous system cancer-predisposing syndrome skos:exactMatch Orphanet:252190 Inherited nervous system cancer-predisposing syndrome semapv:UnspecifiedMatching MONDO:0016757 malignant triton tumor skos:exactMatch DOID:6707 malignant triton tumor semapv:UnspecifiedMatching MONDO:0016757 malignant triton tumor skos:exactMatch MEDGEN:90816 semapv:UnspecifiedMatching MONDO:0016757 malignant triton tumor skos:exactMatch NCIT:C4335 Malignant Triton Tumor semapv:UnspecifiedMatching MONDO:0016757 malignant triton tumor skos:exactMatch Orphanet:252212 Malignant triton tumor semapv:UnspecifiedMatching MONDO:0016757 malignant triton tumor skos:exactMatch SCTID:404040002 semapv:UnspecifiedMatching MONDO:0016757 malignant triton tumor skos:exactMatch UMLS:C0334616 semapv:UnspecifiedMatching MONDO:0016758 microcephaly-brain defect-spasticity-hypernatremia syndrome skos:exactMatch MEDGEN:1668792 semapv:UnspecifiedMatching MONDO:0016758 microcephaly-brain defect-spasticity-hypernatremia syndrome skos:exactMatch Orphanet:2523 Microcephaly-brain defect-spasticity-hypernatremia syndrome semapv:UnspecifiedMatching MONDO:0016758 microcephaly-brain defect-spasticity-hypernatremia syndrome skos:exactMatch UMLS:C4749368 semapv:UnspecifiedMatching MONDO:0016759 pontocerebellar hypoplasia type 2 skos:exactMatch DOID:0112328 pontocerebellar hypoplasia type 2 semapv:UnspecifiedMatching MONDO:0016759 pontocerebellar hypoplasia type 2 skos:exactMatch MEDGEN:420956 semapv:UnspecifiedMatching MONDO:0016759 pontocerebellar hypoplasia type 2 skos:exactMatch NCIT:C124057 Pontocerebellar Hypoplasia Type 2 semapv:UnspecifiedMatching MONDO:0016759 pontocerebellar hypoplasia type 2 skos:exactMatch Orphanet:2524 Pontocerebellar hypoplasia type 2 semapv:UnspecifiedMatching MONDO:0016759 pontocerebellar hypoplasia type 2 skos:exactMatch SCTID:715463008 semapv:UnspecifiedMatching MONDO:0016759 pontocerebellar hypoplasia type 2 skos:exactMatch UMLS:C2932714 semapv:UnspecifiedMatching MONDO:0016759 pontocerebellar hypoplasia type 2 skos:exactMatch icd11.foundation:1158649247 Pontocerebellar hypoplasia type 2 semapv:UnspecifiedMatching MONDO:0016759 pontocerebellar hypoplasia type 2 skos:exactMatch mesh:C548070 semapv:UnspecifiedMatching MONDO:0016760 microcephaly-microcornea syndrome, Seemanova type skos:exactMatch MEDGEN:419433 semapv:UnspecifiedMatching MONDO:0016760 microcephaly-microcornea syndrome, Seemanova type skos:exactMatch Orphanet:2528 Microcephaly-microcornea syndrome, Seemanova type semapv:UnspecifiedMatching MONDO:0016760 microcephaly-microcornea syndrome, Seemanova type skos:exactMatch SCTID:715464002 semapv:UnspecifiedMatching MONDO:0016760 microcephaly-microcornea syndrome, Seemanova type skos:exactMatch UMLS:C2931524 semapv:UnspecifiedMatching MONDO:0016760 microcephaly-microcornea syndrome, Seemanova type skos:exactMatch icd11.foundation:1197077842 Microcephaly-microcornea syndrome, Seemanova type semapv:UnspecifiedMatching MONDO:0016760 microcephaly-microcornea syndrome, Seemanova type skos:exactMatch mesh:C537539 semapv:UnspecifiedMatching MONDO:0016761 spondyloepiphyseal dysplasia skos:exactMatch DOID:0112280 spondyloepiphyseal dysplasia semapv:UnspecifiedMatching MONDO:0016761 spondyloepiphyseal dysplasia skos:exactMatch ICD10CM:Q77.7 Spondyloepiphyseal dysplasia semapv:UnspecifiedMatching MONDO:0016761 spondyloepiphyseal dysplasia skos:exactMatch MEDGEN:20916 semapv:UnspecifiedMatching MONDO:0016761 spondyloepiphyseal dysplasia skos:exactMatch UMLS:C0038015 semapv:UnspecifiedMatching MONDO:0016762 microcornea-corectopia-macular hypoplasia syndrome skos:exactMatch MEDGEN:444078 semapv:UnspecifiedMatching MONDO:0016762 microcornea-corectopia-macular hypoplasia syndrome skos:exactMatch UMLS:C2931531 semapv:UnspecifiedMatching MONDO:0016762 microcornea-corectopia-macular hypoplasia syndrome skos:exactMatch mesh:C537551 semapv:UnspecifiedMatching MONDO:0016763 spondylometaphyseal dysplasia skos:exactMatch DOID:0112295 spondylometaphyseal dysplasia semapv:UnspecifiedMatching MONDO:0016763 spondylometaphyseal dysplasia skos:exactMatch MEDGEN:1674850 semapv:UnspecifiedMatching MONDO:0016763 spondylometaphyseal dysplasia skos:exactMatch OMIMPS:184255 Spondylometaphyseal dysplasia semapv:UnspecifiedMatching MONDO:0016763 spondylometaphyseal dysplasia skos:exactMatch Orphanet:254 Spondylometaphyseal dysplasia semapv:UnspecifiedMatching MONDO:0016763 spondylometaphyseal dysplasia skos:exactMatch UMLS:C4759767 semapv:UnspecifiedMatching MONDO:0016763 spondylometaphyseal dysplasia skos:exactMatch icd11.foundation:181781948 Spondylometaphyseal dysplasias semapv:UnspecifiedMatching MONDO:0016764 isolated anophthalmia-microphthalmia syndrome skos:exactMatch MEDGEN:1826144 semapv:UnspecifiedMatching MONDO:0016764 isolated anophthalmia-microphthalmia syndrome skos:exactMatch Orphanet:2542 Isolated microphthalmia-anophthalmia-coloboma semapv:UnspecifiedMatching MONDO:0016764 isolated anophthalmia-microphthalmia syndrome skos:exactMatch UMLS:C5679828 semapv:UnspecifiedMatching MONDO:0016765 19p13.12 microdeletion syndrome skos:exactMatch MEDGEN:930248 semapv:UnspecifiedMatching MONDO:0016765 19p13.12 microdeletion syndrome skos:exactMatch Orphanet:254346 19p13.12 microdeletion syndrome semapv:UnspecifiedMatching MONDO:0016765 19p13.12 microdeletion syndrome skos:exactMatch SCTID:719597005 semapv:UnspecifiedMatching MONDO:0016765 19p13.12 microdeletion syndrome skos:exactMatch UMLS:C4304579 semapv:UnspecifiedMatching MONDO:0016766 obsolete rare lichen planus skos:exactMatch Orphanet:254367 Rare lichen planus semapv:UnspecifiedMatching MONDO:0016767 obsolete cutaneous lichen planus skos:exactMatch Orphanet:254370 Rare cutaneous lichen planus semapv:UnspecifiedMatching MONDO:0016768 obsolete rare mucosal lichen planus skos:exactMatch Orphanet:254373 Rare mucosal lichen planus semapv:UnspecifiedMatching MONDO:0016769 linear lichen planus skos:exactMatch MEDGEN:507921 semapv:UnspecifiedMatching MONDO:0016769 linear lichen planus skos:exactMatch Orphanet:254379 Linear lichen planus semapv:UnspecifiedMatching MONDO:0016769 linear lichen planus skos:exactMatch SCTID:44509000 semapv:UnspecifiedMatching MONDO:0016769 linear lichen planus skos:exactMatch UMLS:C0023650 semapv:UnspecifiedMatching MONDO:0016769 linear lichen planus skos:exactMatch icd11.foundation:7180779 Linear lichen planus semapv:UnspecifiedMatching MONDO:0016770 actinic lichen planus skos:exactMatch MEDGEN:590348 semapv:UnspecifiedMatching MONDO:0016770 actinic lichen planus skos:exactMatch Orphanet:254395 Actinic lichen planus semapv:UnspecifiedMatching MONDO:0016770 actinic lichen planus skos:exactMatch SCTID:200999007 semapv:UnspecifiedMatching MONDO:0016770 actinic lichen planus skos:exactMatch UMLS:C0406365 semapv:UnspecifiedMatching MONDO:0016770 actinic lichen planus skos:exactMatch icd11.foundation:365229579 Actinic lichen planus semapv:UnspecifiedMatching MONDO:0016771 annular atrophic lichen planus skos:exactMatch MEDGEN:929706 semapv:UnspecifiedMatching MONDO:0016771 annular atrophic lichen planus skos:exactMatch Orphanet:254411 Annular atrophic lichen planus semapv:UnspecifiedMatching MONDO:0016771 annular atrophic lichen planus skos:exactMatch SCTID:720493003 semapv:UnspecifiedMatching MONDO:0016771 annular atrophic lichen planus skos:exactMatch UMLS:C4304037 semapv:UnspecifiedMatching MONDO:0016772 annular lichen planus skos:exactMatch MEDGEN:590346 semapv:UnspecifiedMatching MONDO:0016772 annular lichen planus skos:exactMatch Orphanet:254424 Annular lichen planus semapv:UnspecifiedMatching MONDO:0016772 annular lichen planus skos:exactMatch SCTID:201000006 semapv:UnspecifiedMatching MONDO:0016772 annular lichen planus skos:exactMatch UMLS:C0406363 semapv:UnspecifiedMatching MONDO:0016772 annular lichen planus skos:exactMatch icd11.foundation:206328727 Annular lichen planus semapv:UnspecifiedMatching MONDO:0016773 atrophic lichen planus skos:exactMatch MEDGEN:9754 semapv:UnspecifiedMatching MONDO:0016773 atrophic lichen planus skos:exactMatch NCIT:C34777 Atrophic Lichen Planus semapv:UnspecifiedMatching MONDO:0016773 atrophic lichen planus skos:exactMatch Orphanet:254449 Atrophic lichen planus semapv:UnspecifiedMatching MONDO:0016773 atrophic lichen planus skos:exactMatch SCTID:25858008 semapv:UnspecifiedMatching MONDO:0016773 atrophic lichen planus skos:exactMatch UMLS:C0023647 semapv:UnspecifiedMatching MONDO:0016773 atrophic lichen planus skos:exactMatch icd11.foundation:1633911307 Atrophic lichen planus semapv:UnspecifiedMatching MONDO:0016774 lichen planus pigmentosus skos:exactMatch MEDGEN:590349 semapv:UnspecifiedMatching MONDO:0016774 lichen planus pigmentosus skos:exactMatch Orphanet:254463 Lichen planus pigmentosus semapv:UnspecifiedMatching MONDO:0016774 lichen planus pigmentosus skos:exactMatch SCTID:717061002 semapv:UnspecifiedMatching MONDO:0016774 lichen planus pigmentosus skos:exactMatch UMLS:C0406366 semapv:UnspecifiedMatching MONDO:0016774 lichen planus pigmentosus skos:exactMatch icd11.foundation:1235685123 Lichen planus pigmentosus semapv:UnspecifiedMatching MONDO:0016775 lichen planus pemphigoides skos:exactMatch MEDGEN:590352 semapv:UnspecifiedMatching MONDO:0016775 lichen planus pemphigoides skos:exactMatch Orphanet:254478 Lichen planus pemphigoides semapv:UnspecifiedMatching MONDO:0016775 lichen planus pemphigoides skos:exactMatch SCTID:238653005 semapv:UnspecifiedMatching MONDO:0016775 lichen planus pemphigoides skos:exactMatch UMLS:C0406369 semapv:UnspecifiedMatching MONDO:0016775 lichen planus pemphigoides skos:exactMatch icd11.foundation:1373932539 Lichen planus pemphigoides semapv:UnspecifiedMatching MONDO:0016776 frontal fibrosing alopecia skos:exactMatch MEDGEN:899012 semapv:UnspecifiedMatching MONDO:0016776 frontal fibrosing alopecia skos:exactMatch Orphanet:254492 Frontal fibrosing alopecia semapv:UnspecifiedMatching MONDO:0016776 frontal fibrosing alopecia skos:exactMatch SCTID:717055000 semapv:UnspecifiedMatching MONDO:0016776 frontal fibrosing alopecia skos:exactMatch UMLS:C4255374 semapv:UnspecifiedMatching MONDO:0016776 frontal fibrosing alopecia skos:exactMatch icd11.foundation:1257078333 Frontal fibrosing alopecia semapv:UnspecifiedMatching MONDO:0016777 inhalational botulism skos:exactMatch MEDGEN:731169 semapv:UnspecifiedMatching MONDO:0016777 inhalational botulism skos:exactMatch Orphanet:254504 Inhalational botulism semapv:UnspecifiedMatching MONDO:0016777 inhalational botulism skos:exactMatch SCTID:409562009 semapv:UnspecifiedMatching MONDO:0016777 inhalational botulism skos:exactMatch UMLS:C1443900 semapv:UnspecifiedMatching MONDO:0016777 inhalational botulism skos:exactMatch icd11.foundation:1881625139 Inhalational botulism semapv:UnspecifiedMatching MONDO:0016778 iatrogenic botulism skos:exactMatch MEDGEN:926454 semapv:UnspecifiedMatching MONDO:0016778 iatrogenic botulism skos:exactMatch NCIT:C128345 Iatrogenic Botulism semapv:UnspecifiedMatching MONDO:0016778 iatrogenic botulism skos:exactMatch Orphanet:254509 Iatrogenic botulism semapv:UnspecifiedMatching MONDO:0016778 iatrogenic botulism skos:exactMatch UMLS:C4288922 semapv:UnspecifiedMatching MONDO:0016778 iatrogenic botulism skos:exactMatch icd11.foundation:230654666 Iatrogenic botulism semapv:UnspecifiedMatching MONDO:0016779 multiple congenital anomalies due to 14q32.2 maternally expressed gene defect skos:exactMatch DOID:0111712 Kagami-Ogata syndrome semapv:UnspecifiedMatching MONDO:0016779 multiple congenital anomalies due to 14q32.2 maternally expressed gene defect skos:exactMatch MEDGEN:1830421 semapv:UnspecifiedMatching MONDO:0016779 multiple congenital anomalies due to 14q32.2 maternally expressed gene defect skos:exactMatch Orphanet:254519 Kagami-Ogata syndrome semapv:UnspecifiedMatching MONDO:0016779 multiple congenital anomalies due to 14q32.2 maternally expressed gene defect skos:exactMatch UMLS:C5779872 semapv:UnspecifiedMatching MONDO:0016780 paternal 14q32.2 microdeletion syndrome skos:exactMatch MEDGEN:1842589 semapv:UnspecifiedMatching MONDO:0016780 paternal 14q32.2 microdeletion syndrome skos:exactMatch Orphanet:254525 Temple syndrome due to paternal 14q32.2 microdeletion semapv:UnspecifiedMatching MONDO:0016780 paternal 14q32.2 microdeletion syndrome skos:exactMatch UMLS:C5679639 semapv:UnspecifiedMatching MONDO:0016781 maternal 14q32.2 microdeletion syndrome skos:exactMatch MEDGEN:1842712 semapv:UnspecifiedMatching MONDO:0016781 maternal 14q32.2 microdeletion syndrome skos:exactMatch Orphanet:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion semapv:UnspecifiedMatching MONDO:0016781 maternal 14q32.2 microdeletion syndrome skos:exactMatch UMLS:C5679640 semapv:UnspecifiedMatching MONDO:0016782 paternal 14q32.2 hypomethylation syndrome skos:exactMatch MEDGEN:1842839 semapv:UnspecifiedMatching MONDO:0016782 paternal 14q32.2 hypomethylation syndrome skos:exactMatch Orphanet:254531 Temple syndrome due to paternal 14q32.2 hypomethylation semapv:UnspecifiedMatching MONDO:0016782 paternal 14q32.2 hypomethylation syndrome skos:exactMatch UMLS:C5680721 semapv:UnspecifiedMatching MONDO:0016783 maternal 14q32.2 hypermethylation syndrome skos:exactMatch MEDGEN:1843365 semapv:UnspecifiedMatching MONDO:0016783 maternal 14q32.2 hypermethylation syndrome skos:exactMatch Orphanet:254534 Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation semapv:UnspecifiedMatching MONDO:0016783 maternal 14q32.2 hypermethylation syndrome skos:exactMatch UMLS:C5680720 semapv:UnspecifiedMatching MONDO:0016784 obsolete gestational trophoblastic disease skos:exactMatch Orphanet:254685 Gestational trophoblastic disease semapv:UnspecifiedMatching MONDO:0016784 obsolete gestational trophoblastic disease skos:exactMatch SCTID:416402001 semapv:UnspecifiedMatching MONDO:0016784 obsolete gestational trophoblastic disease skos:exactMatch mesh:D031901 semapv:UnspecifiedMatching MONDO:0016785 complete hydatidiform mole skos:exactMatch MEDGEN:195706 semapv:UnspecifiedMatching MONDO:0016785 complete hydatidiform mole skos:exactMatch NCIT:C4871 Complete Hydatidiform Mole semapv:UnspecifiedMatching MONDO:0016785 complete hydatidiform mole skos:exactMatch Orphanet:254688 Complete hydatidiform mole semapv:UnspecifiedMatching MONDO:0016785 complete hydatidiform mole skos:exactMatch SCTID:237249000 semapv:UnspecifiedMatching MONDO:0016785 complete hydatidiform mole skos:exactMatch UMLS:C0678213 semapv:UnspecifiedMatching MONDO:0016785 complete hydatidiform mole skos:exactMatch icd11.foundation:1338299833 Complete hydatidiform mole semapv:UnspecifiedMatching MONDO:0016786 partial hydatidiform mole skos:exactMatch MEDGEN:87258 semapv:UnspecifiedMatching MONDO:0016786 partial hydatidiform mole skos:exactMatch NCIT:C4293 Partial Hydatidiform Mole semapv:UnspecifiedMatching MONDO:0016786 partial hydatidiform mole skos:exactMatch Orphanet:254693 Partial hydatidiform mole semapv:UnspecifiedMatching MONDO:0016786 partial hydatidiform mole skos:exactMatch SCTID:237250000 semapv:UnspecifiedMatching MONDO:0016786 partial hydatidiform mole skos:exactMatch UMLS:C0334529 semapv:UnspecifiedMatching MONDO:0016786 partial hydatidiform mole skos:exactMatch icd11.foundation:714020909 Incomplete or partial hydatidiform mole semapv:UnspecifiedMatching MONDO:0016787 epithelioid trophoblastic tumor skos:exactMatch DOID:3593 epithelioid trophoblastic tumor semapv:UnspecifiedMatching MONDO:0016787 epithelioid trophoblastic tumor skos:exactMatch MEDGEN:266107 semapv:UnspecifiedMatching MONDO:0016787 epithelioid trophoblastic tumor skos:exactMatch NCIT:C6900 Epithelioid Trophoblastic Tumor semapv:UnspecifiedMatching MONDO:0016787 epithelioid trophoblastic tumor skos:exactMatch Orphanet:254698 Epithelioid trophoblastic tumor semapv:UnspecifiedMatching MONDO:0016787 epithelioid trophoblastic tumor skos:exactMatch SCTID:609515005 semapv:UnspecifiedMatching MONDO:0016787 epithelioid trophoblastic tumor skos:exactMatch UMLS:C1266159 semapv:UnspecifiedMatching MONDO:0016788 obsolete genetic hyperferritinemia without iron overload skos:exactMatch Orphanet:254704 Genetic hyperferritinemia without iron overload semapv:UnspecifiedMatching MONDO:0016788 obsolete genetic hyperferritinemia without iron overload skos:exactMatch SCTID:766929007 semapv:UnspecifiedMatching MONDO:0016789 pyruvate metabolism disorder skos:exactMatch MEDGEN:1842590 semapv:UnspecifiedMatching MONDO:0016789 pyruvate metabolism disorder skos:exactMatch Orphanet:254746 Pyruvate metabolism disorder semapv:UnspecifiedMatching MONDO:0016789 pyruvate metabolism disorder skos:exactMatch UMLS:C0268192 semapv:UnspecifiedMatching MONDO:0016790 tricarboxylic acid cycle disorder skos:exactMatch MEDGEN:1843282 semapv:UnspecifiedMatching MONDO:0016790 tricarboxylic acid cycle disorder skos:exactMatch Orphanet:254749 Tricarboxylic acid cycle disorder semapv:UnspecifiedMatching MONDO:0016790 tricarboxylic acid cycle disorder skos:exactMatch UMLS:C5679646 semapv:UnspecifiedMatching MONDO:0016791 obsolete mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies skos:exactMatch Orphanet:254758 Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies semapv:UnspecifiedMatching MONDO:0016792 obsolete mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA skos:exactMatch Orphanet:254767 Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA semapv:UnspecifiedMatching MONDO:0016793 obsolete mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA skos:exactMatch Orphanet:254776 Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA semapv:UnspecifiedMatching MONDO:0016794 obsolete maternally-inherited mitochondrial myopathy skos:exactMatch Orphanet:254788 Mitochondrial DNA-related mitochondrial myopathy semapv:UnspecifiedMatching MONDO:0016795 obsolete mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA skos:exactMatch Orphanet:254793 OBSOLETE: Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA semapv:UnspecifiedMatching MONDO:0016796 mitochondrial DNA depletion syndrome, encephalomyopathic form skos:exactMatch MEDGEN:1637084 semapv:UnspecifiedMatching MONDO:0016796 mitochondrial DNA depletion syndrome, encephalomyopathic form skos:exactMatch Orphanet:254803 Mitochondrial DNA depletion syndrome, encephalomyopathic form semapv:UnspecifiedMatching MONDO:0016796 mitochondrial DNA depletion syndrome, encephalomyopathic form skos:exactMatch UMLS:C4707428 semapv:UnspecifiedMatching MONDO:0016796 mitochondrial DNA depletion syndrome, encephalomyopathic form skos:exactMatch icd11.foundation:113380609 Mitochondrial DNA depletion syndrome, encephalomyopathic form semapv:UnspecifiedMatching MONDO:0016797 obsolete multiple mitochondrial DNA deletion syndrome skos:exactMatch Orphanet:254807 Multiple mitochondrial DNA deletion syndrome semapv:UnspecifiedMatching MONDO:0016797 obsolete multiple mitochondrial DNA deletion syndrome skos:exactMatch icd11.foundation:194083556 Multiple mitochondrial DNA deletion syndromes semapv:UnspecifiedMatching MONDO:0016798 ataxia neuropathy spectrum skos:exactMatch MEDGEN:777176 semapv:UnspecifiedMatching MONDO:0016798 ataxia neuropathy spectrum skos:exactMatch Orphanet:254818 Ataxia neuropathy spectrum semapv:UnspecifiedMatching MONDO:0016798 ataxia neuropathy spectrum skos:exactMatch UMLS:C3683791 semapv:UnspecifiedMatching MONDO:0016798 ataxia neuropathy spectrum skos:exactMatch mesh:C579922 semapv:UnspecifiedMatching MONDO:0016799 obsolete mitochondrial oxidative phosphorylation disorder with no known mechanism skos:exactMatch Orphanet:254822 Mitochondrial oxidative phosphorylation disorder with no known mechanism semapv:UnspecifiedMatching MONDO:0016800 mitochondrial membrane transport disorder skos:exactMatch MEDGEN:1842228 semapv:UnspecifiedMatching MONDO:0016800 mitochondrial membrane transport disorder skos:exactMatch Orphanet:254827 Mitochondrial membrane transport disorder semapv:UnspecifiedMatching MONDO:0016800 mitochondrial membrane transport disorder skos:exactMatch UMLS:C5680718 semapv:UnspecifiedMatching MONDO:0016800 mitochondrial membrane transport disorder skos:exactMatch icd11.foundation:1340308055 Disorders of mitochondrial membrane transport semapv:UnspecifiedMatching MONDO:0016801 mitochondrial substrate carrier disorder skos:exactMatch MEDGEN:1842923 semapv:UnspecifiedMatching MONDO:0016801 mitochondrial substrate carrier disorder skos:exactMatch Orphanet:254830 Mitochondrial substrate carrier disorder semapv:UnspecifiedMatching MONDO:0016801 mitochondrial substrate carrier disorder skos:exactMatch UMLS:C5680716 semapv:UnspecifiedMatching MONDO:0016801 mitochondrial substrate carrier disorder skos:exactMatch icd11.foundation:1118834100 Mitochondrial substrate carrier disorders semapv:UnspecifiedMatching MONDO:0016802 mitochondrial protein import disorder skos:exactMatch MEDGEN:1843384 semapv:UnspecifiedMatching MONDO:0016802 mitochondrial protein import disorder skos:exactMatch Orphanet:254834 Mitochondrial protein import disorder semapv:UnspecifiedMatching MONDO:0016802 mitochondrial protein import disorder skos:exactMatch UMLS:C5680717 semapv:UnspecifiedMatching MONDO:0016802 mitochondrial protein import disorder skos:exactMatch icd11.foundation:112110122 Mitochondrial protein import disorders semapv:UnspecifiedMatching MONDO:0016803 obsolete unspecified inborn mitochondrial disorder skos:exactMatch Orphanet:254837 Unspecified mitochondrial disorder semapv:UnspecifiedMatching MONDO:0016804 obsolete exercise intolerance with lactic acidosis skos:exactMatch Orphanet:254843 Exercise intolerance with lactic acidosis semapv:UnspecifiedMatching MONDO:0016806 maternally-inherited mitochondrial dystonia skos:exactMatch MEDGEN:907850 semapv:UnspecifiedMatching MONDO:0016806 maternally-inherited mitochondrial dystonia skos:exactMatch Orphanet:254851 Mitochondrial DNA-related dystonia semapv:UnspecifiedMatching MONDO:0016806 maternally-inherited mitochondrial dystonia skos:exactMatch SCTID:717054001 semapv:UnspecifiedMatching MONDO:0016806 maternally-inherited mitochondrial dystonia skos:exactMatch UMLS:C4274074 semapv:UnspecifiedMatching MONDO:0016807 pure mitochondrial myopathy skos:exactMatch MEDGEN:1375079 semapv:UnspecifiedMatching MONDO:0016807 pure mitochondrial myopathy skos:exactMatch Orphanet:254854 Pure mitochondrial myopathy semapv:UnspecifiedMatching MONDO:0016807 pure mitochondrial myopathy skos:exactMatch SCTID:732245008 semapv:UnspecifiedMatching MONDO:0016807 pure mitochondrial myopathy skos:exactMatch UMLS:C4517289 semapv:UnspecifiedMatching MONDO:0016807 pure mitochondrial myopathy skos:exactMatch icd11.foundation:141365898 Pure mitochondrial myopathy semapv:UnspecifiedMatching MONDO:0016809 spinocerebellar ataxia with epilepsy skos:exactMatch MEDGEN:334510 semapv:UnspecifiedMatching MONDO:0016809 spinocerebellar ataxia with epilepsy skos:exactMatch Orphanet:254881 Spinocerebellar ataxia with epilepsy semapv:UnspecifiedMatching MONDO:0016809 spinocerebellar ataxia with epilepsy skos:exactMatch UMLS:C1843852 semapv:UnspecifiedMatching MONDO:0016809 spinocerebellar ataxia with epilepsy skos:exactMatch icd11.foundation:1238648682 Spinocerebellar ataxia with epilepsy semapv:UnspecifiedMatching MONDO:0016809 spinocerebellar ataxia with epilepsy skos:exactMatch mesh:C564395 semapv:UnspecifiedMatching MONDO:0016810 autosomal recessive progressive external ophthalmoplegia skos:exactMatch MEDGEN:340509 semapv:UnspecifiedMatching MONDO:0016810 autosomal recessive progressive external ophthalmoplegia skos:exactMatch Orphanet:254886 Autosomal recessive progressive external ophthalmoplegia semapv:UnspecifiedMatching MONDO:0016810 autosomal recessive progressive external ophthalmoplegia skos:exactMatch UMLS:C1850303 semapv:UnspecifiedMatching MONDO:0016810 autosomal recessive progressive external ophthalmoplegia skos:exactMatch mesh:C564926 semapv:UnspecifiedMatching MONDO:0016811 renal tubulopathy-encephalopathy-liver failure syndrome skos:exactMatch MEDGEN:900319 semapv:UnspecifiedMatching MONDO:0016811 renal tubulopathy-encephalopathy-liver failure syndrome skos:exactMatch Orphanet:254902 Renal tubulopathy-encephalopathy-liver failure syndrome semapv:UnspecifiedMatching MONDO:0016811 renal tubulopathy-encephalopathy-liver failure syndrome skos:exactMatch UMLS:C4274075 semapv:UnspecifiedMatching MONDO:0016812 dopa-responsive dystonia skos:exactMatch NCIT:C116719 Dopa-Responsive Dystonia semapv:UnspecifiedMatching MONDO:0016812 dopa-responsive dystonia skos:exactMatch Orphanet:255 Dopa-responsive dystonia semapv:UnspecifiedMatching MONDO:0016812 dopa-responsive dystonia skos:exactMatch SCTID:230332007 semapv:UnspecifiedMatching MONDO:0016812 dopa-responsive dystonia skos:exactMatch icd11.foundation:1534901505 Dopa-responsive dystonia semapv:UnspecifiedMatching MONDO:0016812 dopa-responsive dystonia skos:exactMatch mesh:C538007 semapv:UnspecifiedMatching MONDO:0016814 maternally-inherited Leigh syndrome skos:exactMatch MEDGEN:443976 semapv:UnspecifiedMatching MONDO:0016814 maternally-inherited Leigh syndrome skos:exactMatch Orphanet:255210 Mitochondrial DNA-associated Leigh syndrome semapv:UnspecifiedMatching MONDO:0016814 maternally-inherited Leigh syndrome skos:exactMatch SCTID:717052002 semapv:UnspecifiedMatching MONDO:0016814 maternally-inherited Leigh syndrome skos:exactMatch UMLS:C2931092 semapv:UnspecifiedMatching MONDO:0016814 maternally-inherited Leigh syndrome skos:exactMatch mesh:C536035 semapv:UnspecifiedMatching MONDO:0016815 obsolete Leigh syndrome with leukodystrophy skos:exactMatch Orphanet:255241 Leigh syndrome with leukodystrophy semapv:UnspecifiedMatching MONDO:0016816 obsolete Leigh syndrome with nephrotic syndrome skos:exactMatch Orphanet:255249 Leigh syndrome with nephrotic syndrome semapv:UnspecifiedMatching MONDO:0016817 Meier-Gorlin syndrome skos:exactMatch DOID:0060306 Meier-Gorlin syndrome semapv:UnspecifiedMatching MONDO:0016817 Meier-Gorlin syndrome skos:exactMatch MEDGEN:401501 semapv:UnspecifiedMatching MONDO:0016817 Meier-Gorlin syndrome skos:exactMatch OMIMPS:224690 Meier-Gorlin syndrome semapv:UnspecifiedMatching MONDO:0016817 Meier-Gorlin syndrome skos:exactMatch Orphanet:2554 Ear-patella-short stature syndrome semapv:UnspecifiedMatching MONDO:0016817 Meier-Gorlin syndrome skos:exactMatch UMLS:C1868684 semapv:UnspecifiedMatching MONDO:0016817 Meier-Gorlin syndrome skos:exactMatch mesh:C538012 semapv:UnspecifiedMatching MONDO:0016818 Mikati-Najjar-Sahli syndrome skos:exactMatch MEDGEN:1376092 semapv:UnspecifiedMatching MONDO:0016818 Mikati-Najjar-Sahli syndrome skos:exactMatch Orphanet:2558 Mikati-Najjar-Sahli syndrome semapv:UnspecifiedMatching MONDO:0016818 Mikati-Najjar-Sahli syndrome skos:exactMatch UMLS:C4518578 semapv:UnspecifiedMatching MONDO:0016819 Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome skos:exactMatch MEDGEN:419697 semapv:UnspecifiedMatching MONDO:0016819 Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome skos:exactMatch Orphanet:2560 Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome semapv:UnspecifiedMatching MONDO:0016819 Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome skos:exactMatch UMLS:C2931024 semapv:UnspecifiedMatching MONDO:0016819 Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome skos:exactMatch mesh:C535806 semapv:UnspecifiedMatching MONDO:0016820 Moyamoya disease skos:exactMatch DOID:13099 Moyamoya disease semapv:UnspecifiedMatching MONDO:0016820 Moyamoya disease skos:exactMatch ICD10CM:I67.5 Moyamoya disease semapv:UnspecifiedMatching MONDO:0016820 Moyamoya disease skos:exactMatch MEDGEN:7726 semapv:UnspecifiedMatching MONDO:0016820 Moyamoya disease skos:exactMatch NCIT:C84895 Moyamoya Disease semapv:UnspecifiedMatching MONDO:0016820 Moyamoya disease skos:exactMatch OMIMPS:252350 Moyamoya disease semapv:UnspecifiedMatching MONDO:0016820 Moyamoya disease skos:exactMatch Orphanet:2573 Moyamoya disease semapv:UnspecifiedMatching MONDO:0016820 Moyamoya disease skos:exactMatch SCTID:89142007 semapv:UnspecifiedMatching MONDO:0016820 Moyamoya disease skos:exactMatch UMLS:C0026654 semapv:UnspecifiedMatching MONDO:0016820 Moyamoya disease skos:exactMatch icd11.foundation:1746892088 Moyamoya syndrome semapv:UnspecifiedMatching MONDO:0016820 Moyamoya disease skos:exactMatch icd11.foundation:369231682 Moyamoya disease semapv:UnspecifiedMatching MONDO:0016820 Moyamoya disease skos:exactMatch mesh:D009072 semapv:UnspecifiedMatching MONDO:0016822 myalgia-eosinophilia syndrome associated with tryptophan skos:exactMatch MEDGEN:698358 semapv:UnspecifiedMatching MONDO:0016822 myalgia-eosinophilia syndrome associated with tryptophan skos:exactMatch Orphanet:2582 Myalgia-eosinophilia syndrome associated with tryptophan semapv:UnspecifiedMatching MONDO:0016822 myalgia-eosinophilia syndrome associated with tryptophan skos:exactMatch UMLS:C1275050 semapv:UnspecifiedMatching MONDO:0016823 mycetoma skos:exactMatch ICD10CM:B47 Mycetoma semapv:UnspecifiedMatching MONDO:0016823 mycetoma skos:exactMatch ICD10WHO:B47 Mycetoma semapv:UnspecifiedMatching MONDO:0016823 mycetoma skos:exactMatch MEDGEN:44241 semapv:UnspecifiedMatching MONDO:0016823 mycetoma skos:exactMatch NCIT:C85505 Mycetoma semapv:UnspecifiedMatching MONDO:0016823 mycetoma skos:exactMatch Orphanet:2583 Mycetoma semapv:UnspecifiedMatching MONDO:0016823 mycetoma skos:exactMatch SCTID:410039003 semapv:UnspecifiedMatching MONDO:0016823 mycetoma skos:exactMatch UMLS:C0024449 semapv:UnspecifiedMatching MONDO:0016823 mycetoma skos:exactMatch mesh:D008271 semapv:UnspecifiedMatching MONDO:0016824 infantile myofibromatosis skos:exactMatch DOID:0080109 infantile myofibromatosis semapv:UnspecifiedMatching MONDO:0016824 infantile myofibromatosis skos:exactMatch MEDGEN:140933 semapv:UnspecifiedMatching MONDO:0016824 infantile myofibromatosis skos:exactMatch NCIT:C3742 Myofibromatosis semapv:UnspecifiedMatching MONDO:0016824 infantile myofibromatosis skos:exactMatch OMIMPS:228550 Infantile myofibromatosis semapv:UnspecifiedMatching MONDO:0016824 infantile myofibromatosis skos:exactMatch Orphanet:2591 Infantile myofibromatosis semapv:UnspecifiedMatching MONDO:0016824 infantile myofibromatosis skos:exactMatch UMLS:C0432284 semapv:UnspecifiedMatching MONDO:0016824 infantile myofibromatosis skos:exactMatch mesh:D018224 semapv:UnspecifiedMatching MONDO:0016825 mitochondrial myopathy-lactic acidosis-deafness syndrome skos:exactMatch MEDGEN:343245 semapv:UnspecifiedMatching MONDO:0016825 mitochondrial myopathy-lactic acidosis-deafness syndrome skos:exactMatch OMIM:251950 mitochondrial myopathy with lactic acidosis semapv:UnspecifiedMatching MONDO:0016825 mitochondrial myopathy-lactic acidosis-deafness syndrome skos:exactMatch Orphanet:2597 Mitochondrial myopathy-lactic acidosis-deafness syndrome semapv:UnspecifiedMatching MONDO:0016825 mitochondrial myopathy-lactic acidosis-deafness syndrome skos:exactMatch UMLS:C1855033 semapv:UnspecifiedMatching MONDO:0016825 mitochondrial myopathy-lactic acidosis-deafness syndrome skos:exactMatch mesh:C537476 semapv:UnspecifiedMatching MONDO:0016826 methylmalonic aciduria and homocystinuria skos:exactMatch MEDGEN:1864102 semapv:UnspecifiedMatching MONDO:0016826 methylmalonic aciduria and homocystinuria skos:exactMatch OMIMPS:277400 Methylmalonic aciduria and homocystinuria semapv:UnspecifiedMatching MONDO:0016826 methylmalonic aciduria and homocystinuria skos:exactMatch Orphanet:26 Methylmalonic acidemia with homocystinuria semapv:UnspecifiedMatching MONDO:0016826 methylmalonic aciduria and homocystinuria skos:exactMatch UMLS:C5848324 semapv:UnspecifiedMatching MONDO:0016826 methylmalonic aciduria and homocystinuria skos:exactMatch mesh:C537359 semapv:UnspecifiedMatching MONDO:0016828 autosomal recessive sideroblastic anemia skos:exactMatch MEDGEN:895586 semapv:UnspecifiedMatching MONDO:0016828 autosomal recessive sideroblastic anemia skos:exactMatch Orphanet:260305 Autosomal recessive sideroblastic anemia semapv:UnspecifiedMatching MONDO:0016828 autosomal recessive sideroblastic anemia skos:exactMatch SCTID:717050005 semapv:UnspecifiedMatching MONDO:0016828 autosomal recessive sideroblastic anemia skos:exactMatch UMLS:C4274077 semapv:UnspecifiedMatching MONDO:0016829 familial visceral myopathy skos:exactMatch MEDGEN:120590 semapv:UnspecifiedMatching MONDO:0016829 familial visceral myopathy skos:exactMatch OMIMPS:155310 Myopathy, visceral semapv:UnspecifiedMatching MONDO:0016829 familial visceral myopathy skos:exactMatch Orphanet:2604 Familial visceral myopathy semapv:UnspecifiedMatching MONDO:0016829 familial visceral myopathy skos:exactMatch SCTID:63684002 semapv:UnspecifiedMatching MONDO:0016829 familial visceral myopathy skos:exactMatch UMLS:C0266833 semapv:UnspecifiedMatching MONDO:0016829 familial visceral myopathy skos:exactMatch icd11.foundation:1838806574 Familial visceral myopathy semapv:UnspecifiedMatching MONDO:0016830 Emery-Dreifuss muscular dystrophy skos:exactMatch DOID:11726 Emery-Dreifuss muscular dystrophy semapv:UnspecifiedMatching MONDO:0016830 Emery-Dreifuss muscular dystrophy skos:exactMatch MEDGEN:96078 semapv:UnspecifiedMatching MONDO:0016830 Emery-Dreifuss muscular dystrophy skos:exactMatch NCIT:C84685 Emery-Dreifuss Muscular Dystrophy semapv:UnspecifiedMatching MONDO:0016830 Emery-Dreifuss muscular dystrophy skos:exactMatch OMIMPS:310300 Emery-Dreifuss muscular dystrophy semapv:UnspecifiedMatching MONDO:0016830 Emery-Dreifuss muscular dystrophy skos:exactMatch Orphanet:261 Emery-Dreifuss muscular dystrophy semapv:UnspecifiedMatching MONDO:0016830 Emery-Dreifuss muscular dystrophy skos:exactMatch SCTID:111508004 semapv:UnspecifiedMatching MONDO:0016830 Emery-Dreifuss muscular dystrophy skos:exactMatch UMLS:C0410189 semapv:UnspecifiedMatching MONDO:0016830 Emery-Dreifuss muscular dystrophy skos:exactMatch icd11.foundation:749295636 Emery-Dreifuss muscular dystrophy semapv:UnspecifiedMatching MONDO:0016830 Emery-Dreifuss muscular dystrophy skos:exactMatch mesh:D020389 semapv:UnspecifiedMatching MONDO:0016831 linear verrucous nevus syndrome skos:exactMatch MEDGEN:1806291 semapv:UnspecifiedMatching MONDO:0016831 linear verrucous nevus syndrome skos:exactMatch Orphanet:2611 Linear verrucous nevus syndrome semapv:UnspecifiedMatching MONDO:0016831 linear verrucous nevus syndrome skos:exactMatch UMLS:C5679838 semapv:UnspecifiedMatching MONDO:0016832 distal 7q11.23 microduplication syndrome skos:exactMatch MEDGEN:1662568 semapv:UnspecifiedMatching MONDO:0016832 distal 7q11.23 microduplication syndrome skos:exactMatch Orphanet:261102 Distal 7q11.23 microduplication syndrome semapv:UnspecifiedMatching MONDO:0016832 distal 7q11.23 microduplication syndrome skos:exactMatch UMLS:C4750782 semapv:UnspecifiedMatching MONDO:0016833 14q12 microdeletion syndrome skos:exactMatch MEDGEN:930909 semapv:UnspecifiedMatching MONDO:0016833 14q12 microdeletion syndrome skos:exactMatch Orphanet:261144 FOXG1 syndrome due to 14q12 microdeletion semapv:UnspecifiedMatching MONDO:0016833 14q12 microdeletion syndrome skos:exactMatch SCTID:719574007 semapv:UnspecifiedMatching MONDO:0016833 14q12 microdeletion syndrome skos:exactMatch UMLS:C4305240 semapv:UnspecifiedMatching MONDO:0016834 16p11.2p12.2 microduplication syndrome skos:exactMatch MEDGEN:1377902 semapv:UnspecifiedMatching MONDO:0016834 16p11.2p12.2 microduplication syndrome skos:exactMatch Orphanet:261204 16p11.2p12.2 microduplication syndrome semapv:UnspecifiedMatching MONDO:0016834 16p11.2p12.2 microduplication syndrome skos:exactMatch SCTID:733518000 semapv:UnspecifiedMatching MONDO:0016834 16p11.2p12.2 microduplication syndrome skos:exactMatch UMLS:C4518821 semapv:UnspecifiedMatching MONDO:0016835 14q11.2 microduplication syndrome skos:exactMatch MEDGEN:1657429 semapv:UnspecifiedMatching MONDO:0016835 14q11.2 microduplication syndrome skos:exactMatch Orphanet:261229 14q11.2 microduplication syndrome semapv:UnspecifiedMatching MONDO:0016835 14q11.2 microduplication syndrome skos:exactMatch UMLS:C4749855 semapv:UnspecifiedMatching MONDO:0016836 16p13.11 microdeletion syndrome skos:exactMatch MEDGEN:930265 semapv:UnspecifiedMatching MONDO:0016836 16p13.11 microdeletion syndrome skos:exactMatch Orphanet:261236 16p13.11 microdeletion syndrome semapv:UnspecifiedMatching MONDO:0016836 16p13.11 microdeletion syndrome skos:exactMatch SCTID:719577000 semapv:UnspecifiedMatching MONDO:0016836 16p13.11 microdeletion syndrome skos:exactMatch UMLS:C4304596 semapv:UnspecifiedMatching MONDO:0016837 16p13.11 microduplication syndrome skos:exactMatch MEDGEN:930264 semapv:UnspecifiedMatching MONDO:0016837 16p13.11 microduplication syndrome skos:exactMatch Orphanet:261243 16p13.11 microduplication syndrome semapv:UnspecifiedMatching MONDO:0016837 16p13.11 microduplication syndrome skos:exactMatch SCTID:719578005 semapv:UnspecifiedMatching MONDO:0016837 16p13.11 microduplication syndrome skos:exactMatch UMLS:C4304595 semapv:UnspecifiedMatching MONDO:0016838 16q24.3 microdeletion syndrome skos:exactMatch MEDGEN:930263 semapv:UnspecifiedMatching MONDO:0016838 16q24.3 microdeletion syndrome skos:exactMatch Orphanet:261250 16q24.3 microdeletion syndrome semapv:UnspecifiedMatching MONDO:0016838 16q24.3 microdeletion syndrome skos:exactMatch SCTID:719580004 semapv:UnspecifiedMatching MONDO:0016838 16q24.3 microdeletion syndrome skos:exactMatch UMLS:C4304594 semapv:UnspecifiedMatching MONDO:0016839 distal 17p13.3 microdeletion syndrome skos:exactMatch MEDGEN:1643975 semapv:UnspecifiedMatching MONDO:0016839 distal 17p13.3 microdeletion syndrome skos:exactMatch Orphanet:261257 Distal 17p13.3 microdeletion syndrome semapv:UnspecifiedMatching MONDO:0016839 distal 17p13.3 microdeletion syndrome skos:exactMatch SCTID:764696007 semapv:UnspecifiedMatching MONDO:0016839 distal 17p13.3 microdeletion syndrome skos:exactMatch UMLS:C4707092 semapv:UnspecifiedMatching MONDO:0016840 trisomy 17p skos:exactMatch MEDGEN:167078 semapv:UnspecifiedMatching MONDO:0016840 trisomy 17p skos:exactMatch Orphanet:261290 Trisomy 17p syndrome semapv:UnspecifiedMatching MONDO:0016840 trisomy 17p skos:exactMatch SCTID:717049005 semapv:UnspecifiedMatching MONDO:0016840 trisomy 17p skos:exactMatch UMLS:C0795865 semapv:UnspecifiedMatching MONDO:0016840 trisomy 17p skos:exactMatch mesh:C538048 semapv:UnspecifiedMatching MONDO:0016841 20p12.3 microdeletion syndrome skos:exactMatch MEDGEN:930208 semapv:UnspecifiedMatching MONDO:0016841 20p12.3 microdeletion syndrome skos:exactMatch Orphanet:261295 20p12.3 microdeletion syndrome semapv:UnspecifiedMatching MONDO:0016841 20p12.3 microdeletion syndrome skos:exactMatch SCTID:719650004 semapv:UnspecifiedMatching MONDO:0016841 20p12.3 microdeletion syndrome skos:exactMatch UMLS:C4304539 semapv:UnspecifiedMatching MONDO:0016842 paternal 20q13.2q13.3 microdeletion syndrome skos:exactMatch MEDGEN:1390091 semapv:UnspecifiedMatching MONDO:0016842 paternal 20q13.2q13.3 microdeletion syndrome skos:exactMatch Orphanet:261304 Paternal 20q13.2q13.3 microdeletion syndrome semapv:UnspecifiedMatching MONDO:0016842 paternal 20q13.2q13.3 microdeletion syndrome skos:exactMatch SCTID:724070005 semapv:UnspecifiedMatching MONDO:0016842 paternal 20q13.2q13.3 microdeletion syndrome skos:exactMatch UMLS:C4510306 semapv:UnspecifiedMatching MONDO:0016843 20q13.33 microdeletion syndrome skos:exactMatch MEDGEN:1384661 semapv:UnspecifiedMatching MONDO:0016843 20q13.33 microdeletion syndrome skos:exactMatch Orphanet:261311 20q13.33 microdeletion syndrome semapv:UnspecifiedMatching MONDO:0016843 20q13.33 microdeletion syndrome skos:exactMatch SCTID:733520002 semapv:UnspecifiedMatching MONDO:0016843 20q13.33 microdeletion syndrome skos:exactMatch UMLS:C4518823 semapv:UnspecifiedMatching MONDO:0016844 trisomy 20p skos:exactMatch MEDGEN:418939 semapv:UnspecifiedMatching MONDO:0016844 trisomy 20p skos:exactMatch Orphanet:261318 Trisomy 20p syndrome semapv:UnspecifiedMatching MONDO:0016844 trisomy 20p skos:exactMatch SCTID:111311004 semapv:UnspecifiedMatching MONDO:0016844 trisomy 20p skos:exactMatch UMLS:C2930888 semapv:UnspecifiedMatching MONDO:0016844 trisomy 20p skos:exactMatch mesh:C535371 semapv:UnspecifiedMatching MONDO:0016845 21q22.11q22.12 microdeletion syndrome skos:exactMatch MEDGEN:1681958 semapv:UnspecifiedMatching MONDO:0016845 21q22.11q22.12 microdeletion syndrome skos:exactMatch Orphanet:261323 21q22.11q22.12 microdeletion syndrome semapv:UnspecifiedMatching MONDO:0016845 21q22.11q22.12 microdeletion syndrome skos:exactMatch UMLS:C5192593 semapv:UnspecifiedMatching MONDO:0016846 distal 22q11.2 microduplication syndrome skos:exactMatch MEDGEN:1637660 semapv:UnspecifiedMatching MONDO:0016846 distal 22q11.2 microduplication syndrome skos:exactMatch Orphanet:261337 Distal 22q11.2 microduplication syndrome semapv:UnspecifiedMatching MONDO:0016846 distal 22q11.2 microduplication syndrome skos:exactMatch SCTID:764524005 semapv:UnspecifiedMatching MONDO:0016846 distal 22q11.2 microduplication syndrome skos:exactMatch UMLS:C4706942 semapv:UnspecifiedMatching MONDO:0016847 trisomy 1q skos:exactMatch MEDGEN:1636619 semapv:UnspecifiedMatching MONDO:0016847 trisomy 1q skos:exactMatch Orphanet:261344 Trisomy 1q syndrome semapv:UnspecifiedMatching MONDO:0016847 trisomy 1q skos:exactMatch SCTID:768927001 semapv:UnspecifiedMatching MONDO:0016847 trisomy 1q skos:exactMatch UMLS:C4708596 semapv:UnspecifiedMatching MONDO:0016848 juvenile temporal arteritis skos:exactMatch MEDGEN:155583 semapv:UnspecifiedMatching MONDO:0016848 juvenile temporal arteritis skos:exactMatch Orphanet:26137 Juvenile temporal arteritis semapv:UnspecifiedMatching MONDO:0016848 juvenile temporal arteritis skos:exactMatch SCTID:722020006 semapv:UnspecifiedMatching MONDO:0016848 juvenile temporal arteritis skos:exactMatch UMLS:C0751547 semapv:UnspecifiedMatching MONDO:0016848 juvenile temporal arteritis skos:exactMatch icd11.foundation:135739104 Juvenile temporal arteritis semapv:UnspecifiedMatching MONDO:0016850 atypical Norrie disease due to monosomy Xp11.3 skos:exactMatch MEDGEN:1377538 semapv:UnspecifiedMatching MONDO:0016850 atypical Norrie disease due to monosomy Xp11.3 skos:exactMatch Orphanet:261501 Atypical Norrie disease due to Xp11.3 microdeletion semapv:UnspecifiedMatching MONDO:0016850 atypical Norrie disease due to monosomy Xp11.3 skos:exactMatch SCTID:733626002 semapv:UnspecifiedMatching MONDO:0016850 atypical Norrie disease due to monosomy Xp11.3 skos:exactMatch UMLS:C4518083 semapv:UnspecifiedMatching MONDO:0016851 maternal uniparental disomy of chromosome X skos:exactMatch MEDGEN:1673747 semapv:UnspecifiedMatching MONDO:0016851 maternal uniparental disomy of chromosome X skos:exactMatch Orphanet:261519 Maternal uniparental disomy of chromosome X syndrome semapv:UnspecifiedMatching MONDO:0016851 maternal uniparental disomy of chromosome X skos:exactMatch UMLS:C5191056 semapv:UnspecifiedMatching MONDO:0016851 maternal uniparental disomy of chromosome X skos:exactMatch icd11.foundation:573923144 Maternal uniparental disomy of chromosome X semapv:UnspecifiedMatching MONDO:0016852 paternal uniparental disomy of chromosome X skos:exactMatch MEDGEN:1683101 semapv:UnspecifiedMatching MONDO:0016852 paternal uniparental disomy of chromosome X skos:exactMatch Orphanet:261524 Paternal uniparental disomy of chromosome X syndrome semapv:UnspecifiedMatching MONDO:0016852 paternal uniparental disomy of chromosome X skos:exactMatch UMLS:C5191049 semapv:UnspecifiedMatching MONDO:0016852 paternal uniparental disomy of chromosome X skos:exactMatch icd11.foundation:444322860 Paternal uniparental disomy of chromosome X semapv:UnspecifiedMatching MONDO:0016853 ring chromosome Y skos:exactMatch MEDGEN:1631964 semapv:UnspecifiedMatching MONDO:0016853 ring chromosome Y skos:exactMatch Orphanet:261529 Ring chromosome Y syndrome semapv:UnspecifiedMatching MONDO:0016853 ring chromosome Y skos:exactMatch SCTID:763407008 semapv:UnspecifiedMatching MONDO:0016853 ring chromosome Y skos:exactMatch UMLS:C4706450 semapv:UnspecifiedMatching MONDO:0016853 ring chromosome Y skos:exactMatch icd11.foundation:388539343 Ring chromosome Y semapv:UnspecifiedMatching MONDO:0016854 49,XXXYY syndrome skos:exactMatch MEDGEN:1667231 semapv:UnspecifiedMatching MONDO:0016854 49,XXXYY syndrome skos:exactMatch Orphanet:261534 49,XXXYY syndrome semapv:UnspecifiedMatching MONDO:0016854 49,XXXYY syndrome skos:exactMatch UMLS:C4749586 semapv:UnspecifiedMatching MONDO:0016855 Mowat-Wilson syndrome due to monosomy 2q22 skos:exactMatch MEDGEN:1723926 semapv:UnspecifiedMatching MONDO:0016855 Mowat-Wilson syndrome due to monosomy 2q22 skos:exactMatch Orphanet:261537 Mowat-Wilson syndrome due to monosomy 2q22 semapv:UnspecifiedMatching MONDO:0016855 Mowat-Wilson syndrome due to monosomy 2q22 skos:exactMatch UMLS:C5437617 semapv:UnspecifiedMatching MONDO:0016856 Mowat-Wilson syndrome due to a ZEB2 point mutation skos:exactMatch MEDGEN:1842263 semapv:UnspecifiedMatching MONDO:0016856 Mowat-Wilson syndrome due to a ZEB2 point mutation skos:exactMatch Orphanet:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation semapv:UnspecifiedMatching MONDO:0016856 Mowat-Wilson syndrome due to a ZEB2 point mutation skos:exactMatch UMLS:C5679681 semapv:UnspecifiedMatching MONDO:0016860 familial adenomatous polyposis due to 5q22.2 microdeletion skos:exactMatch MEDGEN:1788749 semapv:UnspecifiedMatching MONDO:0016860 familial adenomatous polyposis due to 5q22.2 microdeletion skos:exactMatch Orphanet:261584 5q22 microdeletion syndrome semapv:UnspecifiedMatching MONDO:0016860 familial adenomatous polyposis due to 5q22.2 microdeletion skos:exactMatch UMLS:C5548205 semapv:UnspecifiedMatching MONDO:0016860 familial adenomatous polyposis due to 5q22.2 microdeletion skos:exactMatch icd11.foundation:990238909 Familial adenomatous polyposis due to 5q22.2 microdeletion semapv:UnspecifiedMatching MONDO:0016861 Alagille syndrome due to 20p12 microdeletion skos:exactMatch MEDGEN:1826025 semapv:UnspecifiedMatching MONDO:0016861 Alagille syndrome due to 20p12 microdeletion skos:exactMatch Orphanet:261600 Alagille syndrome due to 20p12 microdeletion semapv:UnspecifiedMatching MONDO:0016861 Alagille syndrome due to 20p12 microdeletion skos:exactMatch UMLS:C5679679 semapv:UnspecifiedMatching MONDO:0016862 Alagille syndrome due to a JAG1 point mutation skos:exactMatch MEDGEN:365434 semapv:UnspecifiedMatching MONDO:0016862 Alagille syndrome due to a JAG1 point mutation skos:exactMatch OMIM:118450 alagille syndrome 1 semapv:UnspecifiedMatching MONDO:0016862 Alagille syndrome due to a JAG1 point mutation skos:exactMatch Orphanet:261619 Alagille syndrome due to a JAG1 point mutation semapv:UnspecifiedMatching MONDO:0016862 Alagille syndrome due to a JAG1 point mutation skos:exactMatch UMLS:C1956125 semapv:UnspecifiedMatching MONDO:0016863 Okihiro syndrome due to 20q13 microdeletion skos:exactMatch MEDGEN:1826026 semapv:UnspecifiedMatching MONDO:0016863 Okihiro syndrome due to 20q13 microdeletion skos:exactMatch Orphanet:261638 Okihiro syndrome due to 20q13 microdeletion semapv:UnspecifiedMatching MONDO:0016863 Okihiro syndrome due to 20q13 microdeletion skos:exactMatch UMLS:C5679682 semapv:UnspecifiedMatching MONDO:0016864 Okihiro syndrome due to a point mutation skos:exactMatch MEDGEN:1842838 semapv:UnspecifiedMatching MONDO:0016864 Okihiro syndrome due to a point mutation skos:exactMatch Orphanet:261647 Okihiro syndrome due to a point mutation semapv:UnspecifiedMatching MONDO:0016864 Okihiro syndrome due to a point mutation skos:exactMatch UMLS:C5679683 semapv:UnspecifiedMatching MONDO:0016865 Kleefstra syndrome due to a point mutation skos:exactMatch MEDGEN:1826146 semapv:UnspecifiedMatching MONDO:0016865 Kleefstra syndrome due to a point mutation skos:exactMatch Orphanet:261652 Kleefstra syndrome due to a point mutation semapv:UnspecifiedMatching MONDO:0016865 Kleefstra syndrome due to a point mutation skos:exactMatch UMLS:C5680724 semapv:UnspecifiedMatching MONDO:0016866 partial deletion of chromosome 1 skos:exactMatch MEDGEN:1825957 semapv:UnspecifiedMatching MONDO:0016866 partial deletion of chromosome 1 skos:exactMatch Orphanet:261766 Partial deletion of chromosome 1 syndrome semapv:UnspecifiedMatching MONDO:0016866 partial deletion of chromosome 1 skos:exactMatch UMLS:C5679647 semapv:UnspecifiedMatching MONDO:0016867 partial deletion of chromosome 2 skos:exactMatch MEDGEN:1825960 semapv:UnspecifiedMatching MONDO:0016867 partial deletion of chromosome 2 skos:exactMatch Orphanet:261771 Partial deletion of chromosome 2 syndrome semapv:UnspecifiedMatching MONDO:0016867 partial deletion of chromosome 2 skos:exactMatch UMLS:C5679650 semapv:UnspecifiedMatching MONDO:0016868 partial deletion of chromosome 3 skos:exactMatch MEDGEN:1826012 semapv:UnspecifiedMatching MONDO:0016868 partial deletion of chromosome 3 skos:exactMatch Orphanet:261776 Partial deletion of chromosome 3 syndrome semapv:UnspecifiedMatching MONDO:0016868 partial deletion of chromosome 3 skos:exactMatch UMLS:C5679651 semapv:UnspecifiedMatching MONDO:0016869 partial deletion of chromosome 4 skos:exactMatch MEDGEN:1825958 semapv:UnspecifiedMatching MONDO:0016869 partial deletion of chromosome 4 skos:exactMatch Orphanet:261781 Partial deletion of chromosome 4 syndrome semapv:UnspecifiedMatching MONDO:0016869 partial deletion of chromosome 4 skos:exactMatch UMLS:C5679648 semapv:UnspecifiedMatching MONDO:0016870 partial deletion of chromosome 5 skos:exactMatch MEDGEN:1825959 semapv:UnspecifiedMatching MONDO:0016870 partial deletion of chromosome 5 skos:exactMatch Orphanet:261786 Partial deletion of chromosome 5 syndrome semapv:UnspecifiedMatching MONDO:0016870 partial deletion of chromosome 5 skos:exactMatch UMLS:C5679649 semapv:UnspecifiedMatching MONDO:0016871 partial deletion of chromosome 6 skos:exactMatch MEDGEN:1826013 semapv:UnspecifiedMatching MONDO:0016871 partial deletion of chromosome 6 skos:exactMatch Orphanet:261791 Partial deletion of chromosome 6 syndrome semapv:UnspecifiedMatching MONDO:0016871 partial deletion of chromosome 6 skos:exactMatch UMLS:C5679654 semapv:UnspecifiedMatching MONDO:0016872 partial deletion of chromosome 7 skos:exactMatch MEDGEN:1825962 semapv:UnspecifiedMatching MONDO:0016872 partial deletion of chromosome 7 skos:exactMatch Orphanet:261796 Partial deletion of chromosome 7 syndrome semapv:UnspecifiedMatching MONDO:0016872 partial deletion of chromosome 7 skos:exactMatch UMLS:C5679655 semapv:UnspecifiedMatching MONDO:0016873 partial deletion of chromosome 8 skos:exactMatch MEDGEN:1825961 semapv:UnspecifiedMatching MONDO:0016873 partial deletion of chromosome 8 skos:exactMatch Orphanet:261801 Partial deletion of chromosome 8 syndrome semapv:UnspecifiedMatching MONDO:0016873 partial deletion of chromosome 8 skos:exactMatch UMLS:C5679652 semapv:UnspecifiedMatching MONDO:0016874 partial deletion of chromosome 9 skos:exactMatch MEDGEN:1825996 semapv:UnspecifiedMatching MONDO:0016874 partial deletion of chromosome 9 skos:exactMatch Orphanet:261806 Partial deletion of chromosome 9 syndrome semapv:UnspecifiedMatching MONDO:0016874 partial deletion of chromosome 9 skos:exactMatch UMLS:C5679653 semapv:UnspecifiedMatching MONDO:0016875 partial deletion of chromosome 10 skos:exactMatch MEDGEN:1826016 semapv:UnspecifiedMatching MONDO:0016875 partial deletion of chromosome 10 skos:exactMatch Orphanet:261811 Partial deletion of chromosome 10 syndrome semapv:UnspecifiedMatching MONDO:0016875 partial deletion of chromosome 10 skos:exactMatch UMLS:C5679658 semapv:UnspecifiedMatching MONDO:0016876 partial deletion of chromosome 11 skos:exactMatch MEDGEN:1826017 semapv:UnspecifiedMatching MONDO:0016876 partial deletion of chromosome 11 skos:exactMatch Orphanet:261816 Partial deletion of chromosome 11 syndrome semapv:UnspecifiedMatching MONDO:0016876 partial deletion of chromosome 11 skos:exactMatch UMLS:C5679659 semapv:UnspecifiedMatching MONDO:0016877 partial deletion of the long arm of chromosome 12 skos:exactMatch MEDGEN:1826014 semapv:UnspecifiedMatching MONDO:0016877 partial deletion of the long arm of chromosome 12 skos:exactMatch Orphanet:261821 Partial deletion of the long arm of chromosome 12 syndrome semapv:UnspecifiedMatching MONDO:0016877 partial deletion of the long arm of chromosome 12 skos:exactMatch UMLS:C5679656 semapv:UnspecifiedMatching MONDO:0016877 partial deletion of the long arm of chromosome 12 skos:exactMatch icd11.foundation:1206066048 Deletions of the long arm of chromosome 12 semapv:UnspecifiedMatching MONDO:0016878 partial deletion of chromosome 16 skos:exactMatch MEDGEN:1826015 semapv:UnspecifiedMatching MONDO:0016878 partial deletion of chromosome 16 skos:exactMatch Orphanet:261826 Partial deletion of chromosome 16 syndrome semapv:UnspecifiedMatching MONDO:0016878 partial deletion of chromosome 16 skos:exactMatch UMLS:C5679657 semapv:UnspecifiedMatching MONDO:0016879 partial deletion of chromosome 17 skos:exactMatch MEDGEN:1825963 semapv:UnspecifiedMatching MONDO:0016879 partial deletion of chromosome 17 skos:exactMatch Orphanet:261831 Partial deletion of chromosome 17 syndrome semapv:UnspecifiedMatching MONDO:0016879 partial deletion of chromosome 17 skos:exactMatch UMLS:C5679661 semapv:UnspecifiedMatching MONDO:0016880 partial deletion of chromosome 18 skos:exactMatch MEDGEN:1826018 semapv:UnspecifiedMatching MONDO:0016880 partial deletion of chromosome 18 skos:exactMatch Orphanet:261836 Partial deletion of chromosome 18 syndrome semapv:UnspecifiedMatching MONDO:0016880 partial deletion of chromosome 18 skos:exactMatch UMLS:C5679660 semapv:UnspecifiedMatching MONDO:0016881 partial deletion of chromosome 19 skos:exactMatch MEDGEN:1825965 semapv:UnspecifiedMatching MONDO:0016881 partial deletion of chromosome 19 skos:exactMatch Orphanet:261841 Partial deletion of chromosome 19 syndrome semapv:UnspecifiedMatching MONDO:0016881 partial deletion of chromosome 19 skos:exactMatch UMLS:C5679663 semapv:UnspecifiedMatching MONDO:0016882 partial deletion of chromosome 20 skos:exactMatch MEDGEN:1825964 semapv:UnspecifiedMatching MONDO:0016882 partial deletion of chromosome 20 skos:exactMatch Orphanet:261846 Partial deletion of chromosome 20 syndrome semapv:UnspecifiedMatching MONDO:0016882 partial deletion of chromosome 20 skos:exactMatch UMLS:C5679662 semapv:UnspecifiedMatching MONDO:0016883 partial deletion of the short arm of chromosome 1 skos:exactMatch MEDGEN:208633 semapv:UnspecifiedMatching MONDO:0016883 partial deletion of the short arm of chromosome 1 skos:exactMatch Orphanet:261857 Partial deletion of the short arm of chromosome 1 syndrome semapv:UnspecifiedMatching MONDO:0016883 partial deletion of the short arm of chromosome 1 skos:exactMatch UMLS:C0795796 semapv:UnspecifiedMatching MONDO:0016883 partial deletion of the short arm of chromosome 1 skos:exactMatch icd11.foundation:1004815242 Deletions of the short arm of chromosome 1 semapv:UnspecifiedMatching MONDO:0016883 partial deletion of the short arm of chromosome 1 skos:exactMatch mesh:C535591 semapv:UnspecifiedMatching MONDO:0016884 partial deletion of the short arm of chromosome 2 skos:exactMatch MEDGEN:1826019 semapv:UnspecifiedMatching MONDO:0016884 partial deletion of the short arm of chromosome 2 skos:exactMatch Orphanet:261866 Partial deletion of the short arm of chromosome 2 syndrome semapv:UnspecifiedMatching MONDO:0016884 partial deletion of the short arm of chromosome 2 skos:exactMatch UMLS:C5679664 semapv:UnspecifiedMatching MONDO:0016884 partial deletion of the short arm of chromosome 2 skos:exactMatch icd11.foundation:1610083208 Deletions of the short arm of chromosome 2 semapv:UnspecifiedMatching MONDO:0016885 partial deletion of the short arm of chromosome 3 skos:exactMatch MEDGEN:1826020 semapv:UnspecifiedMatching MONDO:0016885 partial deletion of the short arm of chromosome 3 skos:exactMatch Orphanet:261875 Partial deletion of the short arm of chromosome 3 syndrome semapv:UnspecifiedMatching MONDO:0016885 partial deletion of the short arm of chromosome 3 skos:exactMatch UMLS:C5679666 semapv:UnspecifiedMatching MONDO:0016885 partial deletion of the short arm of chromosome 3 skos:exactMatch icd11.foundation:551346575 Deletions of the short arm of chromosome 3 semapv:UnspecifiedMatching MONDO:0016887 partial deletion of the short arm of chromosome 5 skos:exactMatch MEDGEN:1788277 semapv:UnspecifiedMatching MONDO:0016887 partial deletion of the short arm of chromosome 5 skos:exactMatch Orphanet:261893 Partial deletion of the short arm of chromosome 5 syndrome semapv:UnspecifiedMatching MONDO:0016887 partial deletion of the short arm of chromosome 5 skos:exactMatch UMLS:C5547451 semapv:UnspecifiedMatching MONDO:0016887 partial deletion of the short arm of chromosome 5 skos:exactMatch icd11.foundation:1109271336 Deletions of the short arm of chromosome 5 semapv:UnspecifiedMatching MONDO:0016888 partial deletion of the short arm of chromosome 6 skos:exactMatch MEDGEN:1825966 semapv:UnspecifiedMatching MONDO:0016888 partial deletion of the short arm of chromosome 6 skos:exactMatch Orphanet:261902 Partial deletion of the short arm of chromosome 6 syndrome semapv:UnspecifiedMatching MONDO:0016888 partial deletion of the short arm of chromosome 6 skos:exactMatch UMLS:C5679667 semapv:UnspecifiedMatching MONDO:0016888 partial deletion of the short arm of chromosome 6 skos:exactMatch icd11.foundation:241036989 Deletions of the short arm of chromosome 6 semapv:UnspecifiedMatching MONDO:0016889 partial deletion of the short arm of chromosome 7 skos:exactMatch MEDGEN:1826021 semapv:UnspecifiedMatching MONDO:0016889 partial deletion of the short arm of chromosome 7 skos:exactMatch Orphanet:261911 Partial deletion of the short arm of chromosome 7 syndrome semapv:UnspecifiedMatching MONDO:0016889 partial deletion of the short arm of chromosome 7 skos:exactMatch UMLS:C5679668 semapv:UnspecifiedMatching MONDO:0016889 partial deletion of the short arm of chromosome 7 skos:exactMatch icd11.foundation:1523142467 Deletions of the short arm of chromosome 7 semapv:UnspecifiedMatching MONDO:0016890 partial deletion of the short arm of chromosome 8 skos:exactMatch MEDGEN:444105 semapv:UnspecifiedMatching MONDO:0016890 partial deletion of the short arm of chromosome 8 skos:exactMatch Orphanet:261920 Partial deletion of the short arm of chromosome 8 syndrome semapv:UnspecifiedMatching MONDO:0016890 partial deletion of the short arm of chromosome 8 skos:exactMatch UMLS:C2931635 semapv:UnspecifiedMatching MONDO:0016890 partial deletion of the short arm of chromosome 8 skos:exactMatch icd11.foundation:635585868 Deletions of the short arm of chromosome 8 semapv:UnspecifiedMatching MONDO:0016890 partial deletion of the short arm of chromosome 8 skos:exactMatch mesh:C537826 semapv:UnspecifiedMatching MONDO:0016891 obsolete partial deletion of the short arm of chromosome 9 skos:exactMatch Orphanet:261929 Partial deletion of the short arm of chromosome 9 syndrome semapv:UnspecifiedMatching MONDO:0016891 obsolete partial deletion of the short arm of chromosome 9 skos:exactMatch icd11.foundation:924171107 Deletions of the short arm of chromosome 9 semapv:UnspecifiedMatching MONDO:0016892 partial deletion of the short arm of chromosome 10 skos:exactMatch MEDGEN:162776 semapv:UnspecifiedMatching MONDO:0016892 partial deletion of the short arm of chromosome 10 skos:exactMatch Orphanet:261938 Partial deletion of the short arm of chromosome 10 syndrome semapv:UnspecifiedMatching MONDO:0016892 partial deletion of the short arm of chromosome 10 skos:exactMatch UMLS:C0795836 semapv:UnspecifiedMatching MONDO:0016892 partial deletion of the short arm of chromosome 10 skos:exactMatch icd11.foundation:350543001 Deletions of the short arm of chromosome 10 semapv:UnspecifiedMatching MONDO:0016893 partial deletion of the short arm of chromosome 11 skos:exactMatch MEDGEN:419498 semapv:UnspecifiedMatching MONDO:0016893 partial deletion of the short arm of chromosome 11 skos:exactMatch Orphanet:261947 Partial deletion of the short arm of chromosome 11 syndrome semapv:UnspecifiedMatching MONDO:0016893 partial deletion of the short arm of chromosome 11 skos:exactMatch UMLS:C2931801 semapv:UnspecifiedMatching MONDO:0016893 partial deletion of the short arm of chromosome 11 skos:exactMatch icd11.foundation:127054483 Deletions of the short arm of chromosome 11 semapv:UnspecifiedMatching MONDO:0016894 partial deletion of the short arm of chromosome 16 skos:exactMatch MEDGEN:1825967 semapv:UnspecifiedMatching MONDO:0016894 partial deletion of the short arm of chromosome 16 skos:exactMatch Orphanet:261956 Partial deletion of the short arm of chromosome 16 syndrome semapv:UnspecifiedMatching MONDO:0016894 partial deletion of the short arm of chromosome 16 skos:exactMatch UMLS:C5679670 semapv:UnspecifiedMatching MONDO:0016894 partial deletion of the short arm of chromosome 16 skos:exactMatch icd11.foundation:934406879 Deletions of the short arm of chromosome 16 semapv:UnspecifiedMatching MONDO:0016897 partial deletion of the short arm of chromosome 19 skos:exactMatch MEDGEN:1826022 semapv:UnspecifiedMatching MONDO:0016897 partial deletion of the short arm of chromosome 19 skos:exactMatch Orphanet:261983 Partial deletion of the short arm of chromosome 19 syndrome semapv:UnspecifiedMatching MONDO:0016897 partial deletion of the short arm of chromosome 19 skos:exactMatch UMLS:C5679672 semapv:UnspecifiedMatching MONDO:0016897 partial deletion of the short arm of chromosome 19 skos:exactMatch icd11.foundation:1325170119 Deletions of the short arm of chromosome 19 semapv:UnspecifiedMatching MONDO:0016898 partial monosomy of the short arm of chromosome 20 skos:exactMatch MEDGEN:1826023 semapv:UnspecifiedMatching MONDO:0016898 partial monosomy of the short arm of chromosome 20 skos:exactMatch Orphanet:261992 Partial deletion of the short arm of chromosome 20 syndrome semapv:UnspecifiedMatching MONDO:0016898 partial monosomy of the short arm of chromosome 20 skos:exactMatch UMLS:C5679673 semapv:UnspecifiedMatching MONDO:0016898 partial monosomy of the short arm of chromosome 20 skos:exactMatch icd11.foundation:274545745 Deletions of the short arm of chromosome 20 semapv:UnspecifiedMatching MONDO:0016898 partial monosomy of the short arm of chromosome 20 skos:exactMatch mesh:C535370 semapv:UnspecifiedMatching MONDO:0016899 obsolete Duchenne and Becker muscular dystrophy skos:exactMatch Orphanet:262 Duchenne and Becker muscular dystrophy semapv:UnspecifiedMatching MONDO:0016901 partial deletion of the long arm of chromosome 2 skos:exactMatch MEDGEN:162770 semapv:UnspecifiedMatching MONDO:0016901 partial deletion of the long arm of chromosome 2 skos:exactMatch Orphanet:262010 Partial deletion of the long arm of chromosome 2 syndrome semapv:UnspecifiedMatching MONDO:0016901 partial deletion of the long arm of chromosome 2 skos:exactMatch UMLS:C0795804 semapv:UnspecifiedMatching MONDO:0016901 partial deletion of the long arm of chromosome 2 skos:exactMatch icd11.foundation:754787315 Deletions of the long arm of chromosome 2 semapv:UnspecifiedMatching MONDO:0016901 partial deletion of the long arm of chromosome 2 skos:exactMatch mesh:C538315 semapv:UnspecifiedMatching MONDO:0016902 partial deletion of the long arm of chromosome 3 skos:exactMatch MEDGEN:1825968 semapv:UnspecifiedMatching MONDO:0016902 partial deletion of the long arm of chromosome 3 skos:exactMatch Orphanet:262019 Partial deletion of the long arm of chromosome 3 syndrome semapv:UnspecifiedMatching MONDO:0016902 partial deletion of the long arm of chromosome 3 skos:exactMatch UMLS:C5679675 semapv:UnspecifiedMatching MONDO:0016902 partial deletion of the long arm of chromosome 3 skos:exactMatch icd11.foundation:1054533453 Deletions of the long arm of chromosome 3 semapv:UnspecifiedMatching MONDO:0016903 partial deletion of the long arm of chromosome 4 skos:exactMatch MEDGEN:468967 semapv:UnspecifiedMatching MONDO:0016903 partial deletion of the long arm of chromosome 4 skos:exactMatch Orphanet:262029 Partial deletion of the long arm of chromosome 4 syndrome semapv:UnspecifiedMatching MONDO:0016903 partial deletion of the long arm of chromosome 4 skos:exactMatch UMLS:C0265404 semapv:UnspecifiedMatching MONDO:0016903 partial deletion of the long arm of chromosome 4 skos:exactMatch icd11.foundation:855319857 Deletions of the long arm of chromosome 4 semapv:UnspecifiedMatching MONDO:0016903 partial deletion of the long arm of chromosome 4 skos:exactMatch mesh:C537639 semapv:UnspecifiedMatching MONDO:0016904 partial deletion of the long arm of chromosome 5 skos:exactMatch Orphanet:262038 Partial deletion of the long arm of chromosome 5 syndrome semapv:UnspecifiedMatching MONDO:0016904 partial deletion of the long arm of chromosome 5 skos:exactMatch icd11.foundation:285885131 Deletions of the long arm of chromosome 5 semapv:UnspecifiedMatching MONDO:0016905 partial deletion of the long arm of chromosome 6 skos:exactMatch MEDGEN:162772 semapv:UnspecifiedMatching MONDO:0016905 partial deletion of the long arm of chromosome 6 skos:exactMatch Orphanet:262047 Partial deletion of the long arm of chromosome 6 syndrome semapv:UnspecifiedMatching MONDO:0016905 partial deletion of the long arm of chromosome 6 skos:exactMatch UMLS:C0795816 semapv:UnspecifiedMatching MONDO:0016905 partial deletion of the long arm of chromosome 6 skos:exactMatch icd11.foundation:41692353 Deletions of the long arm of chromosome 6 semapv:UnspecifiedMatching MONDO:0016905 partial deletion of the long arm of chromosome 6 skos:exactMatch mesh:C537807 semapv:UnspecifiedMatching MONDO:0016906 partial deletion of the long arm of chromosome 7 skos:exactMatch MEDGEN:1825969 semapv:UnspecifiedMatching MONDO:0016906 partial deletion of the long arm of chromosome 7 skos:exactMatch Orphanet:262056 Partial deletion of the long arm of chromosome 7 syndrome semapv:UnspecifiedMatching MONDO:0016906 partial deletion of the long arm of chromosome 7 skos:exactMatch UMLS:C5679676 semapv:UnspecifiedMatching MONDO:0016906 partial deletion of the long arm of chromosome 7 skos:exactMatch icd11.foundation:1458081087 Deletions of the long arm of chromosome 7 semapv:UnspecifiedMatching MONDO:0016907 partial deletion of the long arm of chromosome 8 skos:exactMatch MEDGEN:208638 semapv:UnspecifiedMatching MONDO:0016907 partial deletion of the long arm of chromosome 8 skos:exactMatch Orphanet:262065 Partial deletion of the long arm of chromosome 8 syndrome semapv:UnspecifiedMatching MONDO:0016907 partial deletion of the long arm of chromosome 8 skos:exactMatch UMLS:C0795828 semapv:UnspecifiedMatching MONDO:0016907 partial deletion of the long arm of chromosome 8 skos:exactMatch icd11.foundation:653068448 Deletions of the long arm of chromosome 8 semapv:UnspecifiedMatching MONDO:0016907 partial deletion of the long arm of chromosome 8 skos:exactMatch mesh:C537828 semapv:UnspecifiedMatching MONDO:0016908 partial monosomy of the long arm of chromosome 9 skos:exactMatch MEDGEN:1826024 semapv:UnspecifiedMatching MONDO:0016908 partial monosomy of the long arm of chromosome 9 skos:exactMatch Orphanet:262074 Partial deletion of the long arm of chromosome 9 syndrome semapv:UnspecifiedMatching MONDO:0016908 partial monosomy of the long arm of chromosome 9 skos:exactMatch UMLS:C5679677 semapv:UnspecifiedMatching MONDO:0016908 partial monosomy of the long arm of chromosome 9 skos:exactMatch icd11.foundation:1051626600 Deletions of the long arm of chromosome 9 semapv:UnspecifiedMatching MONDO:0016909 partial monosomy of the long arm of chromosome 10 skos:exactMatch MEDGEN:162778 semapv:UnspecifiedMatching MONDO:0016909 partial monosomy of the long arm of chromosome 10 skos:exactMatch Orphanet:262083 Partial deletion of the long arm of chromosome 10 syndrome semapv:UnspecifiedMatching MONDO:0016909 partial monosomy of the long arm of chromosome 10 skos:exactMatch UMLS:C0795839 semapv:UnspecifiedMatching MONDO:0016909 partial monosomy of the long arm of chromosome 10 skos:exactMatch icd11.foundation:376045936 Deletions of the long arm of chromosome 10 semapv:UnspecifiedMatching MONDO:0016910 partial deletion of the long arm of chromosome 11 skos:exactMatch MEDGEN:419905 semapv:UnspecifiedMatching MONDO:0016910 partial deletion of the long arm of chromosome 11 skos:exactMatch Orphanet:262092 Partial deletion of the long arm of chromosome 11 syndrome semapv:UnspecifiedMatching MONDO:0016910 partial deletion of the long arm of chromosome 11 skos:exactMatch UMLS:C2931804 semapv:UnspecifiedMatching MONDO:0016910 partial deletion of the long arm of chromosome 11 skos:exactMatch icd11.foundation:237602200 Deletions of the long arm of chromosome 11 semapv:UnspecifiedMatching MONDO:0016910 partial deletion of the long arm of chromosome 11 skos:exactMatch mesh:C538296 semapv:UnspecifiedMatching MONDO:0016911 partial deletion of the long arm of chromosome 13 skos:exactMatch MEDGEN:120541 semapv:UnspecifiedMatching MONDO:0016911 partial deletion of the long arm of chromosome 13 skos:exactMatch Orphanet:262101 Partial deletion of the long arm of chromosome 13 syndrome semapv:UnspecifiedMatching MONDO:0016911 partial deletion of the long arm of chromosome 13 skos:exactMatch UMLS:C0265451 semapv:UnspecifiedMatching MONDO:0016911 partial deletion of the long arm of chromosome 13 skos:exactMatch mesh:C535449 semapv:UnspecifiedMatching MONDO:0016912 partial deletion of the long arm of chromosome 14 skos:exactMatch MEDGEN:444119 semapv:UnspecifiedMatching MONDO:0016912 partial deletion of the long arm of chromosome 14 skos:exactMatch Orphanet:262110 Partial deletion of the long arm of chromosome 14 syndrome semapv:UnspecifiedMatching MONDO:0016912 partial deletion of the long arm of chromosome 14 skos:exactMatch UMLS:C2931697 semapv:UnspecifiedMatching MONDO:0016913 partial deletion of the long arm of chromosome 15 skos:exactMatch MEDGEN:444123 semapv:UnspecifiedMatching MONDO:0016913 partial deletion of the long arm of chromosome 15 skos:exactMatch Orphanet:262119 Partial deletion of the long arm of chromosome 15 syndrome semapv:UnspecifiedMatching MONDO:0016913 partial deletion of the long arm of chromosome 15 skos:exactMatch UMLS:C2931708 semapv:UnspecifiedMatching MONDO:0016913 partial deletion of the long arm of chromosome 15 skos:exactMatch mesh:C538038 semapv:UnspecifiedMatching MONDO:0016914 partial deletion of the long arm of chromosome 16 skos:exactMatch MEDGEN:1790033 semapv:UnspecifiedMatching MONDO:0016914 partial deletion of the long arm of chromosome 16 skos:exactMatch Orphanet:262128 Partial deletion of the long arm of chromosome 16 syndrome semapv:UnspecifiedMatching MONDO:0016914 partial deletion of the long arm of chromosome 16 skos:exactMatch UMLS:C4736186 semapv:UnspecifiedMatching MONDO:0016914 partial deletion of the long arm of chromosome 16 skos:exactMatch icd11.foundation:324314539 Deletions of the long arm of chromosome 16 semapv:UnspecifiedMatching MONDO:0016915 partial deletion of the long arm of chromosome 17 skos:exactMatch MEDGEN:1826046 semapv:UnspecifiedMatching MONDO:0016915 partial deletion of the long arm of chromosome 17 skos:exactMatch Orphanet:262137 Partial deletion of the long arm of chromosome 17 syndrome semapv:UnspecifiedMatching MONDO:0016915 partial deletion of the long arm of chromosome 17 skos:exactMatch UMLS:C5679727 semapv:UnspecifiedMatching MONDO:0016915 partial deletion of the long arm of chromosome 17 skos:exactMatch icd11.foundation:186065235 Deletions of the long arm of chromosome 17 semapv:UnspecifiedMatching MONDO:0016917 partial deletion of the long arm of chromosome 19 skos:exactMatch MEDGEN:1826047 semapv:UnspecifiedMatching MONDO:0016917 partial deletion of the long arm of chromosome 19 skos:exactMatch Orphanet:262155 Partial deletion of the long arm of chromosome 19 syndrome semapv:UnspecifiedMatching MONDO:0016917 partial deletion of the long arm of chromosome 19 skos:exactMatch UMLS:C5679729 semapv:UnspecifiedMatching MONDO:0016917 partial deletion of the long arm of chromosome 19 skos:exactMatch icd11.foundation:434506582 Deletions of the long arm of chromosome 19 semapv:UnspecifiedMatching MONDO:0016918 partial deletion of the long arm of chromosome 20 skos:exactMatch MEDGEN:1826048 semapv:UnspecifiedMatching MONDO:0016918 partial deletion of the long arm of chromosome 20 skos:exactMatch Orphanet:262164 Partial deletion of the long arm of chromosome 20 syndrome semapv:UnspecifiedMatching MONDO:0016918 partial deletion of the long arm of chromosome 20 skos:exactMatch UMLS:C5679730 semapv:UnspecifiedMatching MONDO:0016918 partial deletion of the long arm of chromosome 20 skos:exactMatch icd11.foundation:27627438 Deletions of the long arm of chromosome 20 semapv:UnspecifiedMatching MONDO:0016919 partial deletion of the long arm of chromosome 21 skos:exactMatch MEDGEN:1825976 semapv:UnspecifiedMatching MONDO:0016919 partial deletion of the long arm of chromosome 21 skos:exactMatch Orphanet:262173 Partial deletion of the long arm of chromosome 21 syndrome semapv:UnspecifiedMatching MONDO:0016919 partial deletion of the long arm of chromosome 21 skos:exactMatch UMLS:C5679731 semapv:UnspecifiedMatching MONDO:0016921 partial duplication of chromosome 1 skos:exactMatch MEDGEN:1379629 semapv:UnspecifiedMatching MONDO:0016921 partial duplication of chromosome 1 skos:exactMatch Orphanet:262191 Partial duplication of chromosome 1 syndrome semapv:UnspecifiedMatching MONDO:0016921 partial duplication of chromosome 1 skos:exactMatch SCTID:726338000 semapv:UnspecifiedMatching MONDO:0016921 partial duplication of chromosome 1 skos:exactMatch UMLS:C4518488 semapv:UnspecifiedMatching MONDO:0016922 partial duplication of chromosome 2 skos:exactMatch MEDGEN:1372476 semapv:UnspecifiedMatching MONDO:0016922 partial duplication of chromosome 2 skos:exactMatch Orphanet:262196 Partial duplication of chromosome 2 syndrome semapv:UnspecifiedMatching MONDO:0016922 partial duplication of chromosome 2 skos:exactMatch SCTID:726340005 semapv:UnspecifiedMatching MONDO:0016922 partial duplication of chromosome 2 skos:exactMatch UMLS:C4518490 semapv:UnspecifiedMatching MONDO:0016923 partial duplication of chromosome 3 skos:exactMatch MEDGEN:1372547 semapv:UnspecifiedMatching MONDO:0016923 partial duplication of chromosome 3 skos:exactMatch Orphanet:262201 Partial duplication of chromosome 3 syndrome semapv:UnspecifiedMatching MONDO:0016923 partial duplication of chromosome 3 skos:exactMatch SCTID:726341009 semapv:UnspecifiedMatching MONDO:0016923 partial duplication of chromosome 3 skos:exactMatch UMLS:C4518491 semapv:UnspecifiedMatching MONDO:0016924 partial duplication of chromosome 4 skos:exactMatch MEDGEN:1392317 semapv:UnspecifiedMatching MONDO:0016924 partial duplication of chromosome 4 skos:exactMatch Orphanet:262206 Partial duplication of chromosome 4 syndrome semapv:UnspecifiedMatching MONDO:0016924 partial duplication of chromosome 4 skos:exactMatch SCTID:726342002 semapv:UnspecifiedMatching MONDO:0016924 partial duplication of chromosome 4 skos:exactMatch UMLS:C4518492 semapv:UnspecifiedMatching MONDO:0016925 partial trisomy/tetrasomy of chromosome 5 skos:exactMatch MEDGEN:1841547 semapv:UnspecifiedMatching MONDO:0016925 partial trisomy/tetrasomy of chromosome 5 skos:exactMatch Orphanet:262211 Partial duplication/triplication of chromosome 5 syndrome semapv:UnspecifiedMatching MONDO:0016925 partial trisomy/tetrasomy of chromosome 5 skos:exactMatch UMLS:C5816686 semapv:UnspecifiedMatching MONDO:0016927 partial duplication of chromosome 6 skos:exactMatch MEDGEN:1379251 semapv:UnspecifiedMatching MONDO:0016927 partial duplication of chromosome 6 skos:exactMatch Orphanet:262628 Partial duplication of chromosome 6 syndrome semapv:UnspecifiedMatching MONDO:0016927 partial duplication of chromosome 6 skos:exactMatch SCTID:726345000 semapv:UnspecifiedMatching MONDO:0016927 partial duplication of chromosome 6 skos:exactMatch UMLS:C4518495 semapv:UnspecifiedMatching MONDO:0016928 partial duplication of chromosome 7 skos:exactMatch MEDGEN:1383136 semapv:UnspecifiedMatching MONDO:0016928 partial duplication of chromosome 7 skos:exactMatch Orphanet:262633 Partial duplication of chromosome 7 syndrome semapv:UnspecifiedMatching MONDO:0016928 partial duplication of chromosome 7 skos:exactMatch SCTID:726346004 semapv:UnspecifiedMatching MONDO:0016928 partial duplication of chromosome 7 skos:exactMatch UMLS:C4518496 semapv:UnspecifiedMatching MONDO:0016929 partial duplication of chromosome 8 skos:exactMatch MEDGEN:419136 semapv:UnspecifiedMatching MONDO:0016929 partial duplication of chromosome 8 skos:exactMatch Orphanet:262638 Partial duplication of chromosome 8 syndrome semapv:UnspecifiedMatching MONDO:0016929 partial duplication of chromosome 8 skos:exactMatch SCTID:726347008 semapv:UnspecifiedMatching MONDO:0016929 partial duplication of chromosome 8 skos:exactMatch UMLS:C2931671 semapv:UnspecifiedMatching MONDO:0016929 partial duplication of chromosome 8 skos:exactMatch mesh:C537941 semapv:UnspecifiedMatching MONDO:0016930 partial trisomy/tetrasomy of chromosome 9 skos:exactMatch MEDGEN:1841529 semapv:UnspecifiedMatching MONDO:0016930 partial trisomy/tetrasomy of chromosome 9 skos:exactMatch Orphanet:262643 Partial duplication/triplication of chromosome 9 syndrome semapv:UnspecifiedMatching MONDO:0016930 partial trisomy/tetrasomy of chromosome 9 skos:exactMatch UMLS:C5816685 semapv:UnspecifiedMatching MONDO:0016931 partial duplication of chromosome 10 skos:exactMatch MEDGEN:1384114 semapv:UnspecifiedMatching MONDO:0016931 partial duplication of chromosome 10 skos:exactMatch Orphanet:262648 Partial duplication of chromosome 10 syndrome semapv:UnspecifiedMatching MONDO:0016931 partial duplication of chromosome 10 skos:exactMatch SCTID:726349006 semapv:UnspecifiedMatching MONDO:0016931 partial duplication of chromosome 10 skos:exactMatch UMLS:C4518498 semapv:UnspecifiedMatching MONDO:0016932 partial duplication of chromosome 11 skos:exactMatch DOID:0070614 chromosome 11 partial duplication syndrome semapv:UnspecifiedMatching MONDO:0016932 partial duplication of chromosome 11 skos:exactMatch MEDGEN:1386777 semapv:UnspecifiedMatching MONDO:0016932 partial duplication of chromosome 11 skos:exactMatch Orphanet:262653 Partial duplication of chromosome 11 syndrome semapv:UnspecifiedMatching MONDO:0016932 partial duplication of chromosome 11 skos:exactMatch SCTID:726350006 semapv:UnspecifiedMatching MONDO:0016932 partial duplication of chromosome 11 skos:exactMatch UMLS:C4518499 semapv:UnspecifiedMatching MONDO:0016933 partial trisomy/tetrasomy of the short arm of chromosome 12 skos:exactMatch MEDGEN:1826045 semapv:UnspecifiedMatching MONDO:0016933 partial trisomy/tetrasomy of the short arm of chromosome 12 skos:exactMatch Orphanet:262658 Partial duplication/triplication of the short arm of chromosome 12 syndrome semapv:UnspecifiedMatching MONDO:0016933 partial trisomy/tetrasomy of the short arm of chromosome 12 skos:exactMatch UMLS:C5679724 semapv:UnspecifiedMatching MONDO:0016934 partial duplication of chromosome 16 skos:exactMatch MEDGEN:1379206 semapv:UnspecifiedMatching MONDO:0016934 partial duplication of chromosome 16 skos:exactMatch Orphanet:262672 Partial duplication of chromosome 16 syndrome semapv:UnspecifiedMatching MONDO:0016934 partial duplication of chromosome 16 skos:exactMatch SCTID:726355001 semapv:UnspecifiedMatching MONDO:0016934 partial duplication of chromosome 16 skos:exactMatch UMLS:C4518504 semapv:UnspecifiedMatching MONDO:0016935 partial duplication of chromosome 17 skos:exactMatch MEDGEN:1387434 semapv:UnspecifiedMatching MONDO:0016935 partial duplication of chromosome 17 skos:exactMatch Orphanet:262677 Partial duplication of chromosome 17 syndrome semapv:UnspecifiedMatching MONDO:0016935 partial duplication of chromosome 17 skos:exactMatch SCTID:726356000 semapv:UnspecifiedMatching MONDO:0016935 partial duplication of chromosome 17 skos:exactMatch UMLS:C4518505 semapv:UnspecifiedMatching MONDO:0016936 partial trisomy/tetrasomy of chromosome 18 skos:exactMatch MEDGEN:1841544 semapv:UnspecifiedMatching MONDO:0016936 partial trisomy/tetrasomy of chromosome 18 skos:exactMatch Orphanet:262682 Partial duplication/triplication of chromosome 18 syndrome semapv:UnspecifiedMatching MONDO:0016936 partial trisomy/tetrasomy of chromosome 18 skos:exactMatch UMLS:C5816684 semapv:UnspecifiedMatching MONDO:0016937 partial duplication of chromosome 19 skos:exactMatch MEDGEN:1379548 semapv:UnspecifiedMatching MONDO:0016937 partial duplication of chromosome 19 skos:exactMatch Orphanet:262687 Partial duplication of chromosome 19 syndrome semapv:UnspecifiedMatching MONDO:0016937 partial duplication of chromosome 19 skos:exactMatch SCTID:726358004 semapv:UnspecifiedMatching MONDO:0016937 partial duplication of chromosome 19 skos:exactMatch UMLS:C4518507 semapv:UnspecifiedMatching MONDO:0016938 partial trisomy of chromosome 20 skos:exactMatch MEDGEN:1377617 semapv:UnspecifiedMatching MONDO:0016938 partial trisomy of chromosome 20 skos:exactMatch Orphanet:262692 Partial duplication of chromosome 20 syndrome semapv:UnspecifiedMatching MONDO:0016938 partial trisomy of chromosome 20 skos:exactMatch SCTID:726360002 semapv:UnspecifiedMatching MONDO:0016938 partial trisomy of chromosome 20 skos:exactMatch UMLS:C4518509 semapv:UnspecifiedMatching MONDO:0016939 partial duplication of the short arm of chromosome 2 skos:exactMatch MEDGEN:208635 semapv:UnspecifiedMatching MONDO:0016939 partial duplication of the short arm of chromosome 2 skos:exactMatch Orphanet:262698 Partial duplication of the short arm of chromosome 2 syndrome semapv:UnspecifiedMatching MONDO:0016939 partial duplication of the short arm of chromosome 2 skos:exactMatch UMLS:C0795803 semapv:UnspecifiedMatching MONDO:0016939 partial duplication of the short arm of chromosome 2 skos:exactMatch icd11.foundation:232544112 Duplications of the short arm of chromosome 2 semapv:UnspecifiedMatching MONDO:0016939 partial duplication of the short arm of chromosome 2 skos:exactMatch mesh:C538318 semapv:UnspecifiedMatching MONDO:0016940 partial duplication of the short arm of chromosome 3 skos:exactMatch MEDGEN:1826042 semapv:UnspecifiedMatching MONDO:0016940 partial duplication of the short arm of chromosome 3 skos:exactMatch Orphanet:262707 Partial duplication of the short arm of chromosome 3 syndrome semapv:UnspecifiedMatching MONDO:0016940 partial duplication of the short arm of chromosome 3 skos:exactMatch UMLS:C5679720 semapv:UnspecifiedMatching MONDO:0016940 partial duplication of the short arm of chromosome 3 skos:exactMatch icd11.foundation:514472294 Duplications of the short arm of chromosome 3 semapv:UnspecifiedMatching MONDO:0016940 partial duplication of the short arm of chromosome 3 skos:exactMatch mesh:C536811 semapv:UnspecifiedMatching MONDO:0016941 partial duplication of the short arm of chromosome 4 skos:exactMatch MEDGEN:1826041 semapv:UnspecifiedMatching MONDO:0016941 partial duplication of the short arm of chromosome 4 skos:exactMatch Orphanet:262716 Partial duplication of the short arm of chromosome 4 syndrome semapv:UnspecifiedMatching MONDO:0016941 partial duplication of the short arm of chromosome 4 skos:exactMatch UMLS:C5679719 semapv:UnspecifiedMatching MONDO:0016941 partial duplication of the short arm of chromosome 4 skos:exactMatch icd11.foundation:1245616284 Duplications of the short arm of chromosome 4 semapv:UnspecifiedMatching MONDO:0016942 partial trisomy/tetrasomy of the short arm of chromosome 5 skos:exactMatch MEDGEN:1826044 semapv:UnspecifiedMatching MONDO:0016942 partial trisomy/tetrasomy of the short arm of chromosome 5 skos:exactMatch Orphanet:262725 Partial duplication/triplication of the short arm of chromosome 5 syndrome semapv:UnspecifiedMatching MONDO:0016942 partial trisomy/tetrasomy of the short arm of chromosome 5 skos:exactMatch UMLS:C5679722 semapv:UnspecifiedMatching MONDO:0016943 partial duplication of the short arm of chromosome 6 skos:exactMatch MEDGEN:1826043 semapv:UnspecifiedMatching MONDO:0016943 partial duplication of the short arm of chromosome 6 skos:exactMatch Orphanet:262740 Partial duplication of the short arm of chromosome 6 syndrome semapv:UnspecifiedMatching MONDO:0016943 partial duplication of the short arm of chromosome 6 skos:exactMatch UMLS:C5679721 semapv:UnspecifiedMatching MONDO:0016943 partial duplication of the short arm of chromosome 6 skos:exactMatch icd11.foundation:657610285 Duplications of the short arm of chromosome 6 semapv:UnspecifiedMatching MONDO:0016943 partial duplication of the short arm of chromosome 6 skos:exactMatch mesh:C537811 semapv:UnspecifiedMatching MONDO:0016944 partial duplication of the short arm of chromosome 7 skos:exactMatch MEDGEN:162875 semapv:UnspecifiedMatching MONDO:0016944 partial duplication of the short arm of chromosome 7 skos:exactMatch Orphanet:262749 Partial duplication of the short arm of chromosome 7 syndrome semapv:UnspecifiedMatching MONDO:0016944 partial duplication of the short arm of chromosome 7 skos:exactMatch UMLS:C0795820 semapv:UnspecifiedMatching MONDO:0016944 partial duplication of the short arm of chromosome 7 skos:exactMatch icd11.foundation:79901143 Duplications of the short arm of chromosome 7 semapv:UnspecifiedMatching MONDO:0016944 partial duplication of the short arm of chromosome 7 skos:exactMatch mesh:C537819 semapv:UnspecifiedMatching MONDO:0016945 partial duplication of the short arm of chromosome 8 skos:exactMatch MEDGEN:1632060 semapv:UnspecifiedMatching MONDO:0016945 partial duplication of the short arm of chromosome 8 skos:exactMatch Orphanet:262758 Partial duplication of the short arm of chromosome 8 syndrome semapv:UnspecifiedMatching MONDO:0016945 partial duplication of the short arm of chromosome 8 skos:exactMatch UMLS:C4708597 semapv:UnspecifiedMatching MONDO:0016945 partial duplication of the short arm of chromosome 8 skos:exactMatch icd11.foundation:1325415519 Duplications of the short arm of chromosome 8 semapv:UnspecifiedMatching MONDO:0016947 partial duplication of the short arm of chromosome 10 skos:exactMatch MEDGEN:1826038 semapv:UnspecifiedMatching MONDO:0016947 partial duplication of the short arm of chromosome 10 skos:exactMatch Orphanet:262776 Partial duplication of the short arm of chromosome 10 syndrome semapv:UnspecifiedMatching MONDO:0016947 partial duplication of the short arm of chromosome 10 skos:exactMatch UMLS:C5679712 semapv:UnspecifiedMatching MONDO:0016947 partial duplication of the short arm of chromosome 10 skos:exactMatch icd11.foundation:1720386511 Duplications of the short arm of chromosome 10 semapv:UnspecifiedMatching MONDO:0016948 partial duplication of the short arm of chromosome 11 skos:exactMatch MEDGEN:1825972 semapv:UnspecifiedMatching MONDO:0016948 partial duplication of the short arm of chromosome 11 skos:exactMatch Orphanet:262785 Partial duplication of the short arm of chromosome 11 syndrome semapv:UnspecifiedMatching MONDO:0016948 partial duplication of the short arm of chromosome 11 skos:exactMatch UMLS:C5679716 semapv:UnspecifiedMatching MONDO:0016949 partial duplication of the short arm of chromosome 16 skos:exactMatch MEDGEN:208643 semapv:UnspecifiedMatching MONDO:0016949 partial duplication of the short arm of chromosome 16 skos:exactMatch Orphanet:262794 Partial duplication of the short arm of chromosome 16 syndrome semapv:UnspecifiedMatching MONDO:0016949 partial duplication of the short arm of chromosome 16 skos:exactMatch UMLS:C0795861 semapv:UnspecifiedMatching MONDO:0016949 partial duplication of the short arm of chromosome 16 skos:exactMatch icd11.foundation:325064766 Duplications of the short arm of chromosome 16 semapv:UnspecifiedMatching MONDO:0016950 partial duplication of the short arm of chromosome 17 skos:exactMatch MEDGEN:1826039 semapv:UnspecifiedMatching MONDO:0016950 partial duplication of the short arm of chromosome 17 skos:exactMatch Orphanet:262803 Partial duplication of the short arm of chromosome 17 syndrome semapv:UnspecifiedMatching MONDO:0016950 partial duplication of the short arm of chromosome 17 skos:exactMatch UMLS:C5679714 semapv:UnspecifiedMatching MONDO:0016950 partial duplication of the short arm of chromosome 17 skos:exactMatch icd11.foundation:1672849162 Duplications of the short arm of chromosome 17 semapv:UnspecifiedMatching MONDO:0016951 partial trisomy/tetrasomy of the short arm of chromosome 18 skos:exactMatch MEDGEN:1826040 semapv:UnspecifiedMatching MONDO:0016951 partial trisomy/tetrasomy of the short arm of chromosome 18 skos:exactMatch Orphanet:262812 Partial duplication/triplication of the short arm of chromosome 18 syndrome semapv:UnspecifiedMatching MONDO:0016951 partial trisomy/tetrasomy of the short arm of chromosome 18 skos:exactMatch UMLS:C5679715 semapv:UnspecifiedMatching MONDO:0016952 partial duplication of the long arm of chromosome 1 skos:exactMatch MEDGEN:1642329 semapv:UnspecifiedMatching MONDO:0016952 partial duplication of the long arm of chromosome 1 skos:exactMatch Orphanet:262833 Partial duplication of the long arm of chromosome 1 syndrome semapv:UnspecifiedMatching MONDO:0016952 partial duplication of the long arm of chromosome 1 skos:exactMatch UMLS:C4708598 semapv:UnspecifiedMatching MONDO:0016952 partial duplication of the long arm of chromosome 1 skos:exactMatch icd11.foundation:73883755 Duplications of the long arm of chromosome 1 semapv:UnspecifiedMatching MONDO:0016953 partial duplication of the long arm of chromosome 2 skos:exactMatch MEDGEN:162771 semapv:UnspecifiedMatching MONDO:0016953 partial duplication of the long arm of chromosome 2 skos:exactMatch Orphanet:262842 Partial duplication of the long arm of chromosome 2 syndrome semapv:UnspecifiedMatching MONDO:0016953 partial duplication of the long arm of chromosome 2 skos:exactMatch UMLS:C0795805 semapv:UnspecifiedMatching MONDO:0016953 partial duplication of the long arm of chromosome 2 skos:exactMatch icd11.foundation:472179859 Duplications of the long arm of chromosome 2 semapv:UnspecifiedMatching MONDO:0016953 partial duplication of the long arm of chromosome 2 skos:exactMatch mesh:C535367 semapv:UnspecifiedMatching MONDO:0016954 partial duplication of the long arm of chromosome 3 skos:exactMatch MEDGEN:208636 semapv:UnspecifiedMatching MONDO:0016954 partial duplication of the long arm of chromosome 3 skos:exactMatch Orphanet:262851 Partial duplication of the long arm of chromosome 3 syndrome semapv:UnspecifiedMatching MONDO:0016954 partial duplication of the long arm of chromosome 3 skos:exactMatch UMLS:C0795809 semapv:UnspecifiedMatching MONDO:0016954 partial duplication of the long arm of chromosome 3 skos:exactMatch icd11.foundation:1132834719 Duplications of the long arm of chromosome 3 semapv:UnspecifiedMatching MONDO:0016954 partial duplication of the long arm of chromosome 3 skos:exactMatch mesh:C536813 semapv:UnspecifiedMatching MONDO:0016955 partial duplication of the long arm of chromosome 4 skos:exactMatch DOID:0111159 partial trisomy distal 4q semapv:UnspecifiedMatching MONDO:0016955 partial duplication of the long arm of chromosome 4 skos:exactMatch MEDGEN:162874 semapv:UnspecifiedMatching MONDO:0016955 partial duplication of the long arm of chromosome 4 skos:exactMatch Orphanet:262860 Partial duplication of the long arm of chromosome 4 syndrome semapv:UnspecifiedMatching MONDO:0016955 partial duplication of the long arm of chromosome 4 skos:exactMatch UMLS:C0795812 semapv:UnspecifiedMatching MONDO:0016955 partial duplication of the long arm of chromosome 4 skos:exactMatch icd11.foundation:959729903 Duplications of the long arm of chromosome 4 semapv:UnspecifiedMatching MONDO:0016955 partial duplication of the long arm of chromosome 4 skos:exactMatch mesh:C537644 semapv:UnspecifiedMatching MONDO:0016956 partial trisomy of the long arm of chromosome 5 skos:exactMatch MEDGEN:315659 semapv:UnspecifiedMatching MONDO:0016956 partial trisomy of the long arm of chromosome 5 skos:exactMatch Orphanet:262869 Partial duplication of the long arm of chromosome 5 syndrome semapv:UnspecifiedMatching MONDO:0016956 partial trisomy of the long arm of chromosome 5 skos:exactMatch UMLS:C1802398 semapv:UnspecifiedMatching MONDO:0016956 partial trisomy of the long arm of chromosome 5 skos:exactMatch icd11.foundation:722703441 Duplications of the long arm of chromosome 5 semapv:UnspecifiedMatching MONDO:0016956 partial trisomy of the long arm of chromosome 5 skos:exactMatch mesh:C537650 semapv:UnspecifiedMatching MONDO:0016957 partial duplication of the long arm of chromosome 6 skos:exactMatch MEDGEN:1826037 semapv:UnspecifiedMatching MONDO:0016957 partial duplication of the long arm of chromosome 6 skos:exactMatch Orphanet:262878 Partial duplication of the long arm of chromosome 6 syndrome semapv:UnspecifiedMatching MONDO:0016957 partial duplication of the long arm of chromosome 6 skos:exactMatch UMLS:C5679708 semapv:UnspecifiedMatching MONDO:0016957 partial duplication of the long arm of chromosome 6 skos:exactMatch icd11.foundation:149091243 Duplications of the long arm of chromosome 6 semapv:UnspecifiedMatching MONDO:0016957 partial duplication of the long arm of chromosome 6 skos:exactMatch mesh:C537812 semapv:UnspecifiedMatching MONDO:0016958 partial duplication of the long arm of chromosome 7 skos:exactMatch MEDGEN:208637 semapv:UnspecifiedMatching MONDO:0016958 partial duplication of the long arm of chromosome 7 skos:exactMatch Orphanet:262887 Partial duplication of the long arm of chromosome 7 syndrome semapv:UnspecifiedMatching MONDO:0016958 partial duplication of the long arm of chromosome 7 skos:exactMatch UMLS:C0795821 semapv:UnspecifiedMatching MONDO:0016958 partial duplication of the long arm of chromosome 7 skos:exactMatch icd11.foundation:462724513 Duplications of the long arm of chromosome 7 semapv:UnspecifiedMatching MONDO:0016958 partial duplication of the long arm of chromosome 7 skos:exactMatch mesh:C537821 semapv:UnspecifiedMatching MONDO:0016959 partial duplication of the long arm of chromosome 8 skos:exactMatch MEDGEN:1826035 semapv:UnspecifiedMatching MONDO:0016959 partial duplication of the long arm of chromosome 8 skos:exactMatch Orphanet:262896 Partial duplication of the long arm of chromosome 8 syndrome semapv:UnspecifiedMatching MONDO:0016959 partial duplication of the long arm of chromosome 8 skos:exactMatch UMLS:C5679703 semapv:UnspecifiedMatching MONDO:0016959 partial duplication of the long arm of chromosome 8 skos:exactMatch icd11.foundation:397762525 Duplications of the long arm of chromosome 8 semapv:UnspecifiedMatching MONDO:0016960 partial trisomy of the long arm of chromosome 9 skos:exactMatch MEDGEN:1826034 semapv:UnspecifiedMatching MONDO:0016960 partial trisomy of the long arm of chromosome 9 skos:exactMatch Orphanet:262905 Partial duplication of the long arm of chromosome 9 syndrome semapv:UnspecifiedMatching MONDO:0016960 partial trisomy of the long arm of chromosome 9 skos:exactMatch UMLS:C5679702 semapv:UnspecifiedMatching MONDO:0016961 partial duplication of the long arm of chromosome 10 skos:exactMatch MEDGEN:539251 semapv:UnspecifiedMatching MONDO:0016961 partial duplication of the long arm of chromosome 10 skos:exactMatch Orphanet:262914 Partial duplication of the long arm of chromosome 10 syndrome semapv:UnspecifiedMatching MONDO:0016961 partial duplication of the long arm of chromosome 10 skos:exactMatch UMLS:C0265437 semapv:UnspecifiedMatching MONDO:0016961 partial duplication of the long arm of chromosome 10 skos:exactMatch icd11.foundation:2004070452 Duplications of the long arm of chromosome 10 semapv:UnspecifiedMatching MONDO:0016964 partial duplication of the long arm of chromosome 14 skos:exactMatch MEDGEN:1826036 semapv:UnspecifiedMatching MONDO:0016964 partial duplication of the long arm of chromosome 14 skos:exactMatch Orphanet:262941 Partial duplication of the long arm of chromosome 14 syndrome semapv:UnspecifiedMatching MONDO:0016964 partial duplication of the long arm of chromosome 14 skos:exactMatch UMLS:C5679704 semapv:UnspecifiedMatching MONDO:0016965 partial duplication of the long arm of chromosome 15 skos:exactMatch MEDGEN:167076 semapv:UnspecifiedMatching MONDO:0016965 partial duplication of the long arm of chromosome 15 skos:exactMatch Orphanet:262950 Partial duplication of the long arm of chromosome 15 syndrome semapv:UnspecifiedMatching MONDO:0016965 partial duplication of the long arm of chromosome 15 skos:exactMatch UMLS:C0795858 semapv:UnspecifiedMatching MONDO:0016965 partial duplication of the long arm of chromosome 15 skos:exactMatch mesh:C538040 semapv:UnspecifiedMatching MONDO:0016966 partial trisomy of the long arm of chromosome 16 skos:exactMatch MEDGEN:1797784 semapv:UnspecifiedMatching MONDO:0016966 partial trisomy of the long arm of chromosome 16 skos:exactMatch Orphanet:262959 Partial duplication of the long arm of chromosome 16 syndrome semapv:UnspecifiedMatching MONDO:0016966 partial trisomy of the long arm of chromosome 16 skos:exactMatch UMLS:C5566361 semapv:UnspecifiedMatching MONDO:0016966 partial trisomy of the long arm of chromosome 16 skos:exactMatch icd11.foundation:126160943 Duplications of the long arm of chromosome 16 semapv:UnspecifiedMatching MONDO:0016966 partial trisomy of the long arm of chromosome 16 skos:exactMatch mesh:C538042 semapv:UnspecifiedMatching MONDO:0016967 partial duplication of the long arm of chromosome 17 skos:exactMatch MEDGEN:1826032 semapv:UnspecifiedMatching MONDO:0016967 partial duplication of the long arm of chromosome 17 skos:exactMatch Orphanet:262968 Partial duplication of the long arm of chromosome 17 syndrome semapv:UnspecifiedMatching MONDO:0016967 partial duplication of the long arm of chromosome 17 skos:exactMatch UMLS:C5679698 semapv:UnspecifiedMatching MONDO:0016967 partial duplication of the long arm of chromosome 17 skos:exactMatch icd11.foundation:1871996278 Duplications of the long arm of chromosome 17 semapv:UnspecifiedMatching MONDO:0016968 partial trisomy of the long arm of chromosome 18 skos:exactMatch MEDGEN:167200 semapv:UnspecifiedMatching MONDO:0016968 partial trisomy of the long arm of chromosome 18 skos:exactMatch Orphanet:262977 Partial duplication of the long arm of chromosome 18 syndrome semapv:UnspecifiedMatching MONDO:0016968 partial trisomy of the long arm of chromosome 18 skos:exactMatch UMLS:C0809935 semapv:UnspecifiedMatching MONDO:0016968 partial trisomy of the long arm of chromosome 18 skos:exactMatch mesh:C538308 semapv:UnspecifiedMatching MONDO:0016969 partial duplication of the long arm of chromosome 19 skos:exactMatch MEDGEN:162782 semapv:UnspecifiedMatching MONDO:0016969 partial duplication of the long arm of chromosome 19 skos:exactMatch Orphanet:262986 Partial duplication of the long arm of chromosome 19 syndrome semapv:UnspecifiedMatching MONDO:0016969 partial duplication of the long arm of chromosome 19 skos:exactMatch UMLS:C0795871 semapv:UnspecifiedMatching MONDO:0016969 partial duplication of the long arm of chromosome 19 skos:exactMatch icd11.foundation:1595108486 Duplications of the long arm of chromosome 19 semapv:UnspecifiedMatching MONDO:0016969 partial duplication of the long arm of chromosome 19 skos:exactMatch mesh:C538311 semapv:UnspecifiedMatching MONDO:0016970 partial trisomy of the long arm of chromosome 20 skos:exactMatch MEDGEN:1826031 semapv:UnspecifiedMatching MONDO:0016970 partial trisomy of the long arm of chromosome 20 skos:exactMatch Orphanet:262995 Partial duplication of the long arm of chromosome 20 syndrome semapv:UnspecifiedMatching MONDO:0016970 partial trisomy of the long arm of chromosome 20 skos:exactMatch UMLS:C5679695 semapv:UnspecifiedMatching MONDO:0016970 partial trisomy of the long arm of chromosome 20 skos:exactMatch icd11.foundation:1196484734 Duplications of the long arm of chromosome 20 semapv:UnspecifiedMatching MONDO:0016971 limb-girdle muscular dystrophy skos:exactMatch DOID:11724 limb-girdle muscular dystrophy semapv:UnspecifiedMatching MONDO:0016971 limb-girdle muscular dystrophy skos:exactMatch MEDGEN:151940 semapv:UnspecifiedMatching MONDO:0016971 limb-girdle muscular dystrophy skos:exactMatch NCIT:C84828 Limb-Girdle Muscular Dystrophy semapv:UnspecifiedMatching MONDO:0016971 limb-girdle muscular dystrophy skos:exactMatch Orphanet:263 Limb-girdle muscular dystrophy semapv:UnspecifiedMatching MONDO:0016971 limb-girdle muscular dystrophy skos:exactMatch SCTID:78468005 semapv:UnspecifiedMatching MONDO:0016971 limb-girdle muscular dystrophy skos:exactMatch UMLS:C0686353 semapv:UnspecifiedMatching MONDO:0016971 limb-girdle muscular dystrophy skos:exactMatch icd11.foundation:887807212 Limb-girdle muscular dystrophy semapv:UnspecifiedMatching MONDO:0016971 limb-girdle muscular dystrophy skos:exactMatch mesh:D049288 semapv:UnspecifiedMatching MONDO:0016972 partial duplication of the long arm of chromosome 22 skos:exactMatch MEDGEN:1826033 semapv:UnspecifiedMatching MONDO:0016972 partial duplication of the long arm of chromosome 22 skos:exactMatch Orphanet:263004 Partial duplication of the long arm of chromosome 22 syndrome semapv:UnspecifiedMatching MONDO:0016972 partial duplication of the long arm of chromosome 22 skos:exactMatch UMLS:C5679699 semapv:UnspecifiedMatching MONDO:0016974 thymoma type B skos:exactMatch DOID:3282 thymoma type B semapv:UnspecifiedMatching MONDO:0016974 thymoma type B skos:exactMatch MEDGEN:231253 semapv:UnspecifiedMatching MONDO:0016974 thymoma type B skos:exactMatch NCIT:C7114 Thymoma Type B semapv:UnspecifiedMatching MONDO:0016974 thymoma type B skos:exactMatch Orphanet:263317 Thymoma type B semapv:UnspecifiedMatching MONDO:0016974 thymoma type B skos:exactMatch UMLS:C1328042 semapv:UnspecifiedMatching MONDO:0016975 thymoma type AB skos:exactMatch DOID:3280 mixed type thymoma semapv:UnspecifiedMatching MONDO:0016975 thymoma type AB skos:exactMatch EFO:1000582 semapv:UnspecifiedMatching MONDO:0016975 thymoma type AB skos:exactMatch MEDGEN:220414 semapv:UnspecifiedMatching MONDO:0016975 thymoma type AB skos:exactMatch NCIT:C6885 Thymoma Type AB semapv:UnspecifiedMatching MONDO:0016975 thymoma type AB skos:exactMatch Orphanet:263324 Thymoma type AB semapv:UnspecifiedMatching MONDO:0016975 thymoma type AB skos:exactMatch UMLS:C1266092 semapv:UnspecifiedMatching MONDO:0016976 well-differentiated thymic neuroendocrine carcinoma skos:exactMatch MEDGEN:931134 semapv:UnspecifiedMatching MONDO:0016976 well-differentiated thymic neuroendocrine carcinoma skos:exactMatch Orphanet:263331 Well-differentiated thymic neuroendocrine carcinoma semapv:UnspecifiedMatching MONDO:0016976 well-differentiated thymic neuroendocrine carcinoma skos:exactMatch SCTID:717922007 semapv:UnspecifiedMatching MONDO:0016976 well-differentiated thymic neuroendocrine carcinoma skos:exactMatch UMLS:C4305465 semapv:UnspecifiedMatching MONDO:0016976 well-differentiated thymic neuroendocrine carcinoma skos:exactMatch icd11.foundation:2004515128 Well-differentiated thymic neuroendocrine carcinoma semapv:UnspecifiedMatching MONDO:0016977 moderately-differentiated thymic neuroendocrine carcinoma skos:exactMatch MEDGEN:1843377 semapv:UnspecifiedMatching MONDO:0016977 moderately-differentiated thymic neuroendocrine carcinoma skos:exactMatch Orphanet:263335 Moderately-differentiated thymic neuroendocrine carcinoma semapv:UnspecifiedMatching MONDO:0016977 moderately-differentiated thymic neuroendocrine carcinoma skos:exactMatch UMLS:C5680730 semapv:UnspecifiedMatching MONDO:0016977 moderately-differentiated thymic neuroendocrine carcinoma skos:exactMatch icd11.foundation:1165208895 Moderately-differentiated thymic neuroendocrine carcinoma semapv:UnspecifiedMatching MONDO:0016978 poorly differentiated thymic neuroendocrine carcinoma skos:exactMatch MEDGEN:931135 semapv:UnspecifiedMatching MONDO:0016978 poorly differentiated thymic neuroendocrine carcinoma skos:exactMatch Orphanet:263339 Poorly differentiated thymic neuroendocrine carcinoma semapv:UnspecifiedMatching MONDO:0016978 poorly differentiated thymic neuroendocrine carcinoma skos:exactMatch SCTID:717921000 semapv:UnspecifiedMatching MONDO:0016978 poorly differentiated thymic neuroendocrine carcinoma skos:exactMatch UMLS:C4305466 semapv:UnspecifiedMatching MONDO:0016979 MRCS syndrome skos:exactMatch MEDGEN:1666962 semapv:UnspecifiedMatching MONDO:0016979 MRCS syndrome skos:exactMatch Orphanet:263347 MRCS syndrome semapv:UnspecifiedMatching MONDO:0016979 MRCS syndrome skos:exactMatch UMLS:C4749856 semapv:UnspecifiedMatching MONDO:0016979 MRCS syndrome skos:exactMatch icd11.foundation:392681472 MRCS syndrome semapv:UnspecifiedMatching MONDO:0016981 infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome skos:exactMatch MEDGEN:1675231 semapv:UnspecifiedMatching MONDO:0016981 infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome skos:exactMatch Orphanet:263410 Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome semapv:UnspecifiedMatching MONDO:0016981 infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome skos:exactMatch UMLS:C5190692 semapv:UnspecifiedMatching MONDO:0016982 angiosarcoma skos:exactMatch DOID:0001816 angiosarcoma semapv:UnspecifiedMatching MONDO:0016982 angiosarcoma skos:exactMatch EFO:0003968 semapv:UnspecifiedMatching MONDO:0016982 angiosarcoma skos:exactMatch MEDGEN:42385 semapv:UnspecifiedMatching MONDO:0016982 angiosarcoma skos:exactMatch NCIT:C3088 Angiosarcoma semapv:UnspecifiedMatching MONDO:0016982 angiosarcoma skos:exactMatch Orphanet:263413 Angiosarcoma semapv:UnspecifiedMatching MONDO:0016982 angiosarcoma skos:exactMatch SCTID:403977003 semapv:UnspecifiedMatching MONDO:0016982 angiosarcoma skos:exactMatch UMLS:C0018923 semapv:UnspecifiedMatching MONDO:0016982 angiosarcoma skos:exactMatch mesh:D006394 semapv:UnspecifiedMatching MONDO:0016983 Bartter syndrome with hypocalcemia skos:exactMatch MEDGEN:1645787 semapv:UnspecifiedMatching MONDO:0016983 Bartter syndrome with hypocalcemia skos:exactMatch UMLS:C4552089 semapv:UnspecifiedMatching MONDO:0016984 nevus of Ota skos:exactMatch EFO:1000396 semapv:UnspecifiedMatching MONDO:0016984 nevus of Ota skos:exactMatch MEDGEN:14363 semapv:UnspecifiedMatching MONDO:0016984 nevus of Ota skos:exactMatch NCIT:C7583 Nevus of Ota semapv:UnspecifiedMatching MONDO:0016984 nevus of Ota skos:exactMatch Orphanet:263425 Nevus of Ota semapv:UnspecifiedMatching MONDO:0016984 nevus of Ota skos:exactMatch SCTID:414929001 semapv:UnspecifiedMatching MONDO:0016984 nevus of Ota skos:exactMatch UMLS:C0027961 semapv:UnspecifiedMatching MONDO:0016984 nevus of Ota skos:exactMatch mesh:D009507 semapv:UnspecifiedMatching MONDO:0016985 nevus of Ito skos:exactMatch EFO:1000395 semapv:UnspecifiedMatching MONDO:0016985 nevus of Ito skos:exactMatch NCIT:C7582 Nevus of Ito semapv:UnspecifiedMatching MONDO:0016985 nevus of Ito skos:exactMatch Orphanet:263432 Nevus of Ito semapv:UnspecifiedMatching MONDO:0016986 congenital smooth muscle hamartoma skos:exactMatch MEDGEN:590701 semapv:UnspecifiedMatching MONDO:0016986 congenital smooth muscle hamartoma skos:exactMatch Orphanet:263435 Congenital smooth muscle hamartoma semapv:UnspecifiedMatching MONDO:0016986 congenital smooth muscle hamartoma skos:exactMatch SCTID:239144007 semapv:UnspecifiedMatching MONDO:0016986 congenital smooth muscle hamartoma skos:exactMatch UMLS:C0406819 semapv:UnspecifiedMatching MONDO:0016987 neuroacanthocytosis skos:exactMatch DOID:0050765 neuroacanthocytosis semapv:UnspecifiedMatching MONDO:0016987 neuroacanthocytosis skos:exactMatch NCIT:C84926 Neuroacanthocytosis semapv:UnspecifiedMatching MONDO:0016987 neuroacanthocytosis skos:exactMatch Orphanet:263440 Neuroacanthocytosis semapv:UnspecifiedMatching MONDO:0016987 neuroacanthocytosis skos:exactMatch icd11.foundation:1012724153 Neuroacanthocytosis semapv:UnspecifiedMatching MONDO:0016987 neuroacanthocytosis skos:exactMatch mesh:D054546 semapv:UnspecifiedMatching MONDO:0016988 hyperinsulinism due to HNF4A deficiency skos:exactMatch MEDGEN:894506 semapv:UnspecifiedMatching MONDO:0016988 hyperinsulinism due to HNF4A deficiency skos:exactMatch Orphanet:263455 Congenital hyperinsulinism due to HNF4A deficiency semapv:UnspecifiedMatching MONDO:0016988 hyperinsulinism due to HNF4A deficiency skos:exactMatch SCTID:717048002 semapv:UnspecifiedMatching MONDO:0016988 hyperinsulinism due to HNF4A deficiency skos:exactMatch UMLS:C4274078 semapv:UnspecifiedMatching MONDO:0016989 Fuchs heterochromic iridocyclitis skos:exactMatch DOID:9375 Fuchs' heterochromic uveitis semapv:UnspecifiedMatching MONDO:0016989 Fuchs heterochromic iridocyclitis skos:exactMatch ICD10CM:H20.81 Fuchs' heterochromic cyclitis semapv:UnspecifiedMatching MONDO:0016989 Fuchs heterochromic iridocyclitis skos:exactMatch MEDGEN:507742 semapv:UnspecifiedMatching MONDO:0016989 Fuchs heterochromic iridocyclitis skos:exactMatch Orphanet:263479 Fuchs heterochromic iridocyclitis semapv:UnspecifiedMatching MONDO:0016989 Fuchs heterochromic iridocyclitis skos:exactMatch SCTID:11226001 semapv:UnspecifiedMatching MONDO:0016989 Fuchs heterochromic iridocyclitis skos:exactMatch UMLS:C0016782 semapv:UnspecifiedMatching MONDO:0016990 acquired prothrombin deficiency skos:exactMatch MEDGEN:140275 semapv:UnspecifiedMatching MONDO:0016990 acquired prothrombin deficiency skos:exactMatch NCIT:C131622 Acquired Factor II Deficiency semapv:UnspecifiedMatching MONDO:0016990 acquired prothrombin deficiency skos:exactMatch Orphanet:26348 Acquired prothrombin deficiency semapv:UnspecifiedMatching MONDO:0016990 acquired prothrombin deficiency skos:exactMatch SCTID:4152002 semapv:UnspecifiedMatching MONDO:0016990 acquired prothrombin deficiency skos:exactMatch UMLS:C0392610 semapv:UnspecifiedMatching MONDO:0016990 acquired prothrombin deficiency skos:exactMatch mesh:C538174 semapv:UnspecifiedMatching MONDO:0016991 acute necrotizing encephalopathy of childhood skos:exactMatch MEDGEN:1641610 semapv:UnspecifiedMatching MONDO:0016991 acute necrotizing encephalopathy of childhood skos:exactMatch Orphanet:263524 Acute necrotizing encephalopathy of childhood semapv:UnspecifiedMatching MONDO:0016991 acute necrotizing encephalopathy of childhood skos:exactMatch SCTID:763310000 semapv:UnspecifiedMatching MONDO:0016991 acute necrotizing encephalopathy of childhood skos:exactMatch UMLS:C4706387 semapv:UnspecifiedMatching MONDO:0016994 microcephalic osteodysplastic primordial dwarfism types I and III skos:exactMatch MEDGEN:1380769 semapv:UnspecifiedMatching MONDO:0016994 microcephalic osteodysplastic primordial dwarfism types I and III skos:exactMatch Orphanet:2636 Microcephalic osteodysplastic primordial dwarfism types I and III semapv:UnspecifiedMatching MONDO:0016994 microcephalic osteodysplastic primordial dwarfism types I and III skos:exactMatch SCTID:725461009 semapv:UnspecifiedMatching MONDO:0016994 microcephalic osteodysplastic primordial dwarfism types I and III skos:exactMatch UMLS:C4319565 semapv:UnspecifiedMatching MONDO:0016995 familial multiple meningioma skos:exactMatch MEDGEN:1644853 semapv:UnspecifiedMatching MONDO:0016995 familial multiple meningioma skos:exactMatch Orphanet:263662 Familial multiple meningioma semapv:UnspecifiedMatching MONDO:0016995 familial multiple meningioma skos:exactMatch UMLS:C4707361 semapv:UnspecifiedMatching MONDO:0016995 familial multiple meningioma skos:exactMatch icd11.foundation:160795085 Familial multiple meningioma semapv:UnspecifiedMatching MONDO:0016996 NK-cell enteropathy skos:exactMatch MEDGEN:1379183 semapv:UnspecifiedMatching MONDO:0016996 NK-cell enteropathy skos:exactMatch Orphanet:263665 NK-cell enteropathy semapv:UnspecifiedMatching MONDO:0016996 NK-cell enteropathy skos:exactMatch SCTID:723496007 semapv:UnspecifiedMatching MONDO:0016996 NK-cell enteropathy skos:exactMatch UMLS:C4509932 semapv:UnspecifiedMatching MONDO:0016997 obsolete hereditary epidermolysis bullosa associated with ocular features skos:exactMatch Orphanet:263676 OBSOLETE: Hereditary epidermolysis bullosa associated with ocular features semapv:UnspecifiedMatching MONDO:0016998 obsolete complex chromosomal rearrangement skos:exactMatch Orphanet:263708 Complex chromosomal rearrangement syndrome semapv:UnspecifiedMatching MONDO:0016999 obsolete X chromosome number anomaly skos:exactMatch Orphanet:263714 X chromosome number anomaly syndrome semapv:UnspecifiedMatching MONDO:0017000 obsolete X chromosome number anomaly with female phenotype skos:exactMatch Orphanet:263717 X chromosome number anomaly with female phenotype syndrome semapv:UnspecifiedMatching MONDO:0017001 obsolete X chromosome number anomaly with male phenotype skos:exactMatch Orphanet:263720 X chromosome number anomaly with male phenotype syndrome semapv:UnspecifiedMatching MONDO:0017002 obsolete polysomy of X chromosome skos:exactMatch Orphanet:263723 Polysomy of X chromosome syndrome semapv:UnspecifiedMatching MONDO:0017003 partial deletion of chromosome X skos:exactMatch MEDGEN:1826030 semapv:UnspecifiedMatching MONDO:0017003 partial deletion of chromosome X skos:exactMatch Orphanet:263726 Partial deletion of chromosome X syndrome semapv:UnspecifiedMatching MONDO:0017003 partial deletion of chromosome X skos:exactMatch UMLS:C5679690 semapv:UnspecifiedMatching MONDO:0017004 partial monosomy of the short arm of chromosome X skos:exactMatch MEDGEN:1826029 semapv:UnspecifiedMatching MONDO:0017004 partial monosomy of the short arm of chromosome X skos:exactMatch Orphanet:263731 Partial deletion of the short arm of the chromosome X syndrome semapv:UnspecifiedMatching MONDO:0017004 partial monosomy of the short arm of chromosome X skos:exactMatch UMLS:C5679689 semapv:UnspecifiedMatching MONDO:0017005 obsolete Y chromosome number anomaly skos:exactMatch Orphanet:263746 Y chromosome number anomaly syndrome semapv:UnspecifiedMatching MONDO:0017005 obsolete Y chromosome number anomaly skos:exactMatch icd11.foundation:1632180154 Number anomalies of chromosome Y semapv:UnspecifiedMatching MONDO:0017006 obsolete X and Y chromosomal anomaly skos:exactMatch Orphanet:263749 X and Y chromosomal anomaly syndrome semapv:UnspecifiedMatching MONDO:0017007 partial deletion of the long arm of chromosome X skos:exactMatch MEDGEN:1826028 semapv:UnspecifiedMatching MONDO:0017007 partial deletion of the long arm of chromosome X skos:exactMatch Orphanet:263756 Partial deletion of the long arm of chromosome X syndrome semapv:UnspecifiedMatching MONDO:0017007 partial deletion of the long arm of chromosome X skos:exactMatch UMLS:C5679688 semapv:UnspecifiedMatching MONDO:0017008 partial duplication of chromosome X skos:exactMatch MEDGEN:1825971 semapv:UnspecifiedMatching MONDO:0017008 partial duplication of chromosome X skos:exactMatch Orphanet:263768 Partial duplication of chromosome X syndrome semapv:UnspecifiedMatching MONDO:0017008 partial duplication of chromosome X skos:exactMatch UMLS:C5679687 semapv:UnspecifiedMatching MONDO:0017009 partial duplication of the short arm of chromosome X skos:exactMatch MEDGEN:1826027 semapv:UnspecifiedMatching MONDO:0017009 partial duplication of the short arm of chromosome X skos:exactMatch Orphanet:263775 Partial duplication of the short arm of chromosome X syndrome semapv:UnspecifiedMatching MONDO:0017009 partial duplication of the short arm of chromosome X skos:exactMatch UMLS:C5679686 semapv:UnspecifiedMatching MONDO:0017010 partial duplication of the long arm of chromosome X skos:exactMatch MEDGEN:162887 semapv:UnspecifiedMatching MONDO:0017010 partial duplication of the long arm of chromosome X skos:exactMatch Orphanet:263783 Partial duplication of the long arm of chromosome X syndrome semapv:UnspecifiedMatching MONDO:0017010 partial duplication of the long arm of chromosome X skos:exactMatch UMLS:C0795891 semapv:UnspecifiedMatching MONDO:0017010 partial duplication of the long arm of chromosome X skos:exactMatch mesh:C536732 semapv:UnspecifiedMatching MONDO:0017011 obsolete uniparental disomy of chromosome X skos:exactMatch Orphanet:263793 Uniparental disomy of chromosome X syndrome semapv:UnspecifiedMatching MONDO:0017012 partial duplication of the short arm of chromosome 1 skos:exactMatch MEDGEN:1826050 semapv:UnspecifiedMatching MONDO:0017012 partial duplication of the short arm of chromosome 1 skos:exactMatch Orphanet:264431 Partial duplication of the short arm of chromosome 1 syndrome semapv:UnspecifiedMatching MONDO:0017012 partial duplication of the short arm of chromosome 1 skos:exactMatch UMLS:C5679751 semapv:UnspecifiedMatching MONDO:0017012 partial duplication of the short arm of chromosome 1 skos:exactMatch icd11.foundation:774713494 Duplications of the short arm of chromosome 1 semapv:UnspecifiedMatching MONDO:0017013 trisomy 8p skos:exactMatch MEDGEN:167072 semapv:UnspecifiedMatching MONDO:0017013 trisomy 8p skos:exactMatch Orphanet:264450 Trisomy 8p syndrome semapv:UnspecifiedMatching MONDO:0017013 trisomy 8p skos:exactMatch UMLS:C0795825 semapv:UnspecifiedMatching MONDO:0017013 trisomy 8p skos:exactMatch mesh:C538019 semapv:UnspecifiedMatching MONDO:0017014 interstitial lung disease specific to childhood skos:exactMatch MEDGEN:1842412 semapv:UnspecifiedMatching MONDO:0017014 interstitial lung disease specific to childhood skos:exactMatch Orphanet:264656 Interstitial lung disease specific to childhood semapv:UnspecifiedMatching MONDO:0017014 interstitial lung disease specific to childhood skos:exactMatch SCTID:328661000119108 semapv:UnspecifiedMatching MONDO:0017014 interstitial lung disease specific to childhood skos:exactMatch UMLS:C5679752 semapv:UnspecifiedMatching MONDO:0017015 primary interstitial lung disease specific to childhood skos:exactMatch MEDGEN:853969 semapv:UnspecifiedMatching MONDO:0017015 primary interstitial lung disease specific to childhood skos:exactMatch Orphanet:264665 Primary interstitial lung disease specific to childhood semapv:UnspecifiedMatching MONDO:0017015 primary interstitial lung disease specific to childhood skos:exactMatch UMLS:C3161253 semapv:UnspecifiedMatching MONDO:0017015 primary interstitial lung disease specific to childhood skos:exactMatch icd11.foundation:1408868257 Primary interstitial lung diseases specific to infancy or childhood semapv:UnspecifiedMatching MONDO:0017016 obsolete primary interstitial lung disease specific to childhood due to alveolar structure disorder skos:exactMatch Orphanet:264670 Primary interstitial lung disease specific to childhood due to alveolar structure disorder semapv:UnspecifiedMatching MONDO:0017017 obsolete primary interstitial lung disease specific to childhood due to alveolar vascular disorder skos:exactMatch Orphanet:264683 Primary interstitial lung disease specific to childhood due to alveolar vascular disorder semapv:UnspecifiedMatching MONDO:0017018 isolated pulmonary capillaritis skos:exactMatch MEDGEN:842738 semapv:UnspecifiedMatching MONDO:0017018 isolated pulmonary capillaritis skos:exactMatch Orphanet:264691 Isolated pulmonary capillaritis semapv:UnspecifiedMatching MONDO:0017018 isolated pulmonary capillaritis skos:exactMatch SCTID:707436001 semapv:UnspecifiedMatching MONDO:0017018 isolated pulmonary capillaritis skos:exactMatch UMLS:C3873357 semapv:UnspecifiedMatching MONDO:0017018 isolated pulmonary capillaritis skos:exactMatch icd11.foundation:1607123556 Isolated pulmonary capillaritis semapv:UnspecifiedMatching MONDO:0017018 isolated pulmonary capillaritis skos:exactMatch icd11.foundation:1610022220 Pulmonary capillaritis semapv:UnspecifiedMatching MONDO:0017019 interstitial lung disease specific to infancy skos:exactMatch MEDGEN:1842984 semapv:UnspecifiedMatching MONDO:0017019 interstitial lung disease specific to infancy skos:exactMatch Orphanet:264694 Interstitial lung disease specific to infancy semapv:UnspecifiedMatching MONDO:0017019 interstitial lung disease specific to infancy skos:exactMatch UMLS:C5679737 semapv:UnspecifiedMatching MONDO:0017020 obsolete secondary interstitial lung disease specific to childhood associated with a systemic disease skos:exactMatch Orphanet:264699 Secondary interstitial lung disease specific to childhood associated with a systemic disease semapv:UnspecifiedMatching MONDO:0017021 obsolete secondary interstitial lung disease specific to childhood associated with a connective tissue disease skos:exactMatch Orphanet:264704 Secondary interstitial lung disease specific to childhood associated with a connective tissue disease semapv:UnspecifiedMatching MONDO:0017022 obsolete secondary interstitial lung disease specific to childhood associated with a systemic vasculitis skos:exactMatch Orphanet:264709 Secondary interstitial lung disease specific to childhood associated with a systemic vasculitis semapv:UnspecifiedMatching MONDO:0017023 obsolete secondary interstitial lung disease specific to childhood associated with a granulomatous disease skos:exactMatch Orphanet:264714 Secondary interstitial lung disease specific to childhood associated with a granulomatous disease semapv:UnspecifiedMatching MONDO:0017024 obsolete secondary interstitial lung disease specific to childhood associated with a metabolic disease skos:exactMatch Orphanet:264719 Secondary interstitial lung disease specific to childhood associated with a metabolic disease semapv:UnspecifiedMatching MONDO:0017025 Langerhans cell histiocytosis specific to childhood skos:exactMatch MEDGEN:859249 semapv:UnspecifiedMatching MONDO:0017025 Langerhans cell histiocytosis specific to childhood skos:exactMatch NCIT:C114483 Childhood Langerhans Cell Histiocytosis semapv:UnspecifiedMatching MONDO:0017025 Langerhans cell histiocytosis specific to childhood skos:exactMatch UMLS:C3899655 semapv:UnspecifiedMatching MONDO:0017026 interstitial lung disease specific to adulthood skos:exactMatch MEDGEN:1842399 semapv:UnspecifiedMatching MONDO:0017026 interstitial lung disease specific to adulthood skos:exactMatch Orphanet:264735 Interstitial lung disease specific to adulthood semapv:UnspecifiedMatching MONDO:0017026 interstitial lung disease specific to adulthood skos:exactMatch UMLS:C5679743 semapv:UnspecifiedMatching MONDO:0017027 obsolete primary interstitial lung disease specific to adulthood skos:exactMatch Orphanet:264740 Primary interstitial lung disease specific to adulthood semapv:UnspecifiedMatching MONDO:0017028 obsolete secondary interstitial lung disease specific to adulthood associated with a systemic disease skos:exactMatch Orphanet:264745 Secondary interstitial lung disease specific to adulthood associated with a systemic disease semapv:UnspecifiedMatching MONDO:0017029 Langerhans cell histiocytosis specific to adulthood skos:exactMatch MEDGEN:859694 semapv:UnspecifiedMatching MONDO:0017029 Langerhans cell histiocytosis specific to adulthood skos:exactMatch NCIT:C114929 Adult Langerhans Cell Histiocytosis semapv:UnspecifiedMatching MONDO:0017029 Langerhans cell histiocytosis specific to adulthood skos:exactMatch UMLS:C3900100 semapv:UnspecifiedMatching MONDO:0017030 obsolete interstitial lung disease in childhood and adulthood skos:exactMatch Orphanet:264757 Interstitial lung disease in childhood and adulthood semapv:UnspecifiedMatching MONDO:0017031 obsolete primary interstitial lung disease in childhood and adulthood skos:exactMatch Orphanet:264762 Primary interstitial lung disease in childhood and adulthood semapv:UnspecifiedMatching MONDO:0017032 obsolete primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder skos:exactMatch Orphanet:264930 Primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder semapv:UnspecifiedMatching MONDO:0017033 obsolete primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder skos:exactMatch Orphanet:264935 Primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder semapv:UnspecifiedMatching MONDO:0017034 obsolete secondary interstitial lung disease in childhood and adulthood skos:exactMatch Orphanet:264944 Secondary interstitial lung disease in childhood and adulthood semapv:UnspecifiedMatching MONDO:0017035 obsolete secondary interstitial lung disease in childhood and adulthood associated with a systemic disease skos:exactMatch Orphanet:264949 Secondary interstitial lung disease in childhood and adulthood associated with a systemic disease semapv:UnspecifiedMatching MONDO:0017036 obsolete Langerhans cell histiocytosis in childhood and adulthood skos:exactMatch Orphanet:264955 OBSOLETE: Langerhans cell histiocytosis in childhood and adulthood semapv:UnspecifiedMatching MONDO:0017037 obsolete secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease skos:exactMatch Orphanet:264968 Secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease semapv:UnspecifiedMatching MONDO:0017038 obsolete secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis skos:exactMatch Orphanet:264973 Secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis semapv:UnspecifiedMatching MONDO:0017039 drug or radiation exposure-related interstitial lung disease skos:exactMatch MEDGEN:1843006 semapv:UnspecifiedMatching MONDO:0017039 drug or radiation exposure-related interstitial lung disease skos:exactMatch Orphanet:264978 Drug or radiation exposure-related interstitial lung disease semapv:UnspecifiedMatching MONDO:0017039 drug or radiation exposure-related interstitial lung disease skos:exactMatch UMLS:C5680746 semapv:UnspecifiedMatching MONDO:0017040 obsolete exposure-related interstitial lung disease skos:exactMatch Orphanet:264984 Exposure-related interstitial lung disease semapv:UnspecifiedMatching MONDO:0017041 osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome skos:exactMatch SCTID:722108000 semapv:UnspecifiedMatching MONDO:0017042 thanatophoric dysplasia skos:exactMatch DOID:13481 thanatophoric dysplasia semapv:UnspecifiedMatching MONDO:0017042 thanatophoric dysplasia skos:exactMatch MEDGEN:21124 semapv:UnspecifiedMatching MONDO:0017042 thanatophoric dysplasia skos:exactMatch NCIT:C85187 Thanatophoric Dysplasia semapv:UnspecifiedMatching MONDO:0017042 thanatophoric dysplasia skos:exactMatch Orphanet:2655 Thanatophoric dysplasia semapv:UnspecifiedMatching MONDO:0017042 thanatophoric dysplasia skos:exactMatch SCTID:29352008 semapv:UnspecifiedMatching MONDO:0017042 thanatophoric dysplasia skos:exactMatch UMLS:C0039743 semapv:UnspecifiedMatching MONDO:0017042 thanatophoric dysplasia skos:exactMatch icd11.foundation:1668919215 Thanatophoric dysplasia semapv:UnspecifiedMatching MONDO:0017042 thanatophoric dysplasia skos:exactMatch mesh:D013796 semapv:UnspecifiedMatching MONDO:0017043 congenital mesoblastic nephroma skos:exactMatch DOID:4773 congenital mesoblastic nephroma semapv:UnspecifiedMatching MONDO:0017043 congenital mesoblastic nephroma skos:exactMatch MEDGEN:232058 semapv:UnspecifiedMatching MONDO:0017043 congenital mesoblastic nephroma skos:exactMatch NCIT:C6569 Congenital Mesoblastic Nephroma semapv:UnspecifiedMatching MONDO:0017043 congenital mesoblastic nephroma skos:exactMatch Orphanet:2665 Congenital mesoblastic nephroma semapv:UnspecifiedMatching MONDO:0017043 congenital mesoblastic nephroma skos:exactMatch UMLS:C1332965 semapv:UnspecifiedMatching MONDO:0017043 congenital mesoblastic nephroma skos:exactMatch icd11.foundation:2001572901 Congenital mesoblastic nephroma semapv:UnspecifiedMatching MONDO:0017044 adult familial nephronophthisis-spastic quadriparesia syndrome skos:exactMatch MEDGEN:1385988 semapv:UnspecifiedMatching MONDO:0017044 adult familial nephronophthisis-spastic quadriparesia syndrome skos:exactMatch Orphanet:2666 Adult familial nephronophthisis-spastic quadriparesia syndrome semapv:UnspecifiedMatching MONDO:0017044 adult familial nephronophthisis-spastic quadriparesia syndrome skos:exactMatch UMLS:C4518090 semapv:UnspecifiedMatching MONDO:0017045 neuroectodermal-endocrine syndrome skos:exactMatch SCTID:724090001 semapv:UnspecifiedMatching MONDO:0017046 neuroepithelioma skos:exactMatch icd11.foundation:841824628 Neuroepithelioma semapv:UnspecifiedMatching MONDO:0017048 pseudomyxoma peritonei skos:exactMatch DOID:3559 pseudomyxoma peritonei semapv:UnspecifiedMatching MONDO:0017048 pseudomyxoma peritonei skos:exactMatch MEDGEN:18726 semapv:UnspecifiedMatching MONDO:0017048 pseudomyxoma peritonei skos:exactMatch NCIT:C3345 Pseudomyxoma Peritonei semapv:UnspecifiedMatching MONDO:0017048 pseudomyxoma peritonei skos:exactMatch Orphanet:26790 Pseudomyxoma peritonei semapv:UnspecifiedMatching MONDO:0017048 pseudomyxoma peritonei skos:exactMatch SCTID:307601000 semapv:UnspecifiedMatching MONDO:0017048 pseudomyxoma peritonei skos:exactMatch UMLS:C0033822 semapv:UnspecifiedMatching MONDO:0017048 pseudomyxoma peritonei skos:exactMatch icd11.foundation:1849365560 Pseudomyxoma peritonei semapv:UnspecifiedMatching MONDO:0017048 pseudomyxoma peritonei skos:exactMatch mesh:D011553 semapv:UnspecifiedMatching MONDO:0017050 intraocular medulloepithelioma skos:exactMatch MEDGEN:408140 semapv:UnspecifiedMatching MONDO:0017050 intraocular medulloepithelioma skos:exactMatch NCIT:C66806 Ciliary Body Medulloepithelioma semapv:UnspecifiedMatching MONDO:0017050 intraocular medulloepithelioma skos:exactMatch Orphanet:268139 Intraocular medulloepithelioma semapv:UnspecifiedMatching MONDO:0017050 intraocular medulloepithelioma skos:exactMatch UMLS:C1883694 semapv:UnspecifiedMatching MONDO:0017051 classic maple syrup urine disease skos:exactMatch MEDGEN:78689 semapv:UnspecifiedMatching MONDO:0017051 classic maple syrup urine disease skos:exactMatch Orphanet:268145 Classic maple syrup urine disease semapv:UnspecifiedMatching MONDO:0017051 classic maple syrup urine disease skos:exactMatch UMLS:C0268568 semapv:UnspecifiedMatching MONDO:0017052 intermediate maple syrup urine disease skos:exactMatch MEDGEN:301223 semapv:UnspecifiedMatching MONDO:0017052 intermediate maple syrup urine disease skos:exactMatch Orphanet:268162 Intermediate maple syrup urine disease semapv:UnspecifiedMatching MONDO:0017052 intermediate maple syrup urine disease skos:exactMatch SCTID:405287008 semapv:UnspecifiedMatching MONDO:0017052 intermediate maple syrup urine disease skos:exactMatch UMLS:C1621920 semapv:UnspecifiedMatching MONDO:0017053 intermittent maple syrup urine disease skos:exactMatch MEDGEN:78690 semapv:UnspecifiedMatching MONDO:0017053 intermittent maple syrup urine disease skos:exactMatch Orphanet:268173 Intermittent maple syrup urine disease semapv:UnspecifiedMatching MONDO:0017053 intermittent maple syrup urine disease skos:exactMatch SCTID:405288003 semapv:UnspecifiedMatching MONDO:0017053 intermittent maple syrup urine disease skos:exactMatch UMLS:C0268569 semapv:UnspecifiedMatching MONDO:0017054 thiamine-responsive maple syrup urine disease skos:exactMatch MEDGEN:199627 semapv:UnspecifiedMatching MONDO:0017054 thiamine-responsive maple syrup urine disease skos:exactMatch Orphanet:268184 Thiamine-responsive maple syrup urine disease semapv:UnspecifiedMatching MONDO:0017054 thiamine-responsive maple syrup urine disease skos:exactMatch UMLS:C0751285 semapv:UnspecifiedMatching MONDO:0017055 mycophenolate mofetil embryopathy skos:exactMatch MEDGEN:1387699 semapv:UnspecifiedMatching MONDO:0017055 mycophenolate mofetil embryopathy skos:exactMatch Orphanet:268249 Mycophenolate mofetil embryopathy semapv:UnspecifiedMatching MONDO:0017055 mycophenolate mofetil embryopathy skos:exactMatch SCTID:723406000 semapv:UnspecifiedMatching MONDO:0017055 mycophenolate mofetil embryopathy skos:exactMatch UMLS:C4509879 semapv:UnspecifiedMatching MONDO:0017055 mycophenolate mofetil embryopathy skos:exactMatch icd11.foundation:2111105927 Mycophenolate mofetil embryopathy semapv:UnspecifiedMatching MONDO:0017056 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion skos:exactMatch MEDGEN:1673021 semapv:UnspecifiedMatching MONDO:0017056 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion skos:exactMatch Orphanet:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion semapv:UnspecifiedMatching MONDO:0017056 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion skos:exactMatch UMLS:C5191008 semapv:UnspecifiedMatching MONDO:0017057 obsolete hereditary thrombocytopenia with normal platelets skos:exactMatch Orphanet:268322 Hereditary thrombocytopenia with normal platelets semapv:UnspecifiedMatching MONDO:0017058 autosomal recessive intermediate Charcot-Marie-Tooth disease skos:exactMatch MEDGEN:1843095 semapv:UnspecifiedMatching MONDO:0017058 autosomal recessive intermediate Charcot-Marie-Tooth disease skos:exactMatch Orphanet:268337 Autosomal recessive intermediate Charcot-Marie-Tooth disease semapv:UnspecifiedMatching MONDO:0017058 autosomal recessive intermediate Charcot-Marie-Tooth disease skos:exactMatch UMLS:C5679732 semapv:UnspecifiedMatching MONDO:0017059 obsolete neural tube closure defect skos:exactMatch Orphanet:268357 Neural tube closure defect semapv:UnspecifiedMatching MONDO:0017060 open iniencephaly skos:exactMatch MEDGEN:608900 semapv:UnspecifiedMatching MONDO:0017060 open iniencephaly skos:exactMatch Orphanet:268363 Open iniencephaly semapv:UnspecifiedMatching MONDO:0017060 open iniencephaly skos:exactMatch SCTID:203928008 semapv:UnspecifiedMatching MONDO:0017060 open iniencephaly skos:exactMatch UMLS:C0431285 semapv:UnspecifiedMatching MONDO:0017060 open iniencephaly skos:exactMatch icd11.foundation:1778329323 Open iniencephaly semapv:UnspecifiedMatching MONDO:0017061 closed iniencephaly skos:exactMatch MEDGEN:608901 semapv:UnspecifiedMatching MONDO:0017061 closed iniencephaly skos:exactMatch Orphanet:268366 Closed iniencephaly semapv:UnspecifiedMatching MONDO:0017061 closed iniencephaly skos:exactMatch SCTID:203927003 semapv:UnspecifiedMatching MONDO:0017061 closed iniencephaly skos:exactMatch UMLS:C0431286 semapv:UnspecifiedMatching MONDO:0017061 closed iniencephaly skos:exactMatch icd11.foundation:1780502952 Closed iniencephaly semapv:UnspecifiedMatching MONDO:0017062 spina bifida aperta skos:exactMatch MEDGEN:181490 semapv:UnspecifiedMatching MONDO:0017062 spina bifida aperta skos:exactMatch Orphanet:268369 Open spinal dysraphism semapv:UnspecifiedMatching MONDO:0017062 spina bifida aperta skos:exactMatch SCTID:58557008 semapv:UnspecifiedMatching MONDO:0017062 spina bifida aperta skos:exactMatch UMLS:C0917813 semapv:UnspecifiedMatching MONDO:0017062 spina bifida aperta skos:exactMatch icd11.foundation:187581000 Spina bifida aperta semapv:UnspecifiedMatching MONDO:0017063 total spina bifida aperta skos:exactMatch icd11.foundation:910194123 Total spina bifida aperta semapv:UnspecifiedMatching MONDO:0017064 thoracolumbosacral spina bifida aperta skos:exactMatch MEDGEN:1732917 semapv:UnspecifiedMatching MONDO:0017064 thoracolumbosacral spina bifida aperta skos:exactMatch UMLS:C5439435 semapv:UnspecifiedMatching MONDO:0017064 thoracolumbosacral spina bifida aperta skos:exactMatch icd11.foundation:2108603667 Thoracolumbosacral spina bifida aperta semapv:UnspecifiedMatching MONDO:0017065 lumbosacral spina bifida aperta skos:exactMatch MEDGEN:1748032 semapv:UnspecifiedMatching MONDO:0017065 lumbosacral spina bifida aperta skos:exactMatch UMLS:C5439434 semapv:UnspecifiedMatching MONDO:0017065 lumbosacral spina bifida aperta skos:exactMatch icd11.foundation:417689735 Lumbosacral spina bifida aperta semapv:UnspecifiedMatching MONDO:0017066 cervical spina bifida aperta skos:exactMatch MEDGEN:743641 semapv:UnspecifiedMatching MONDO:0017066 cervical spina bifida aperta skos:exactMatch SCTID:425687007 semapv:UnspecifiedMatching MONDO:0017066 cervical spina bifida aperta skos:exactMatch UMLS:C1960883 semapv:UnspecifiedMatching MONDO:0017066 cervical spina bifida aperta skos:exactMatch icd11.foundation:151252460 Cervical spina bifida aperta semapv:UnspecifiedMatching MONDO:0017067 cervicothoracic spina bifida aperta skos:exactMatch MEDGEN:1770642 semapv:UnspecifiedMatching MONDO:0017067 cervicothoracic spina bifida aperta skos:exactMatch UMLS:C5439433 semapv:UnspecifiedMatching MONDO:0017067 cervicothoracic spina bifida aperta skos:exactMatch icd11.foundation:572666703 Cervicothoracic spina bifida aperta semapv:UnspecifiedMatching MONDO:0017068 upper thoracic spina bifida aperta skos:exactMatch MEDGEN:1741862 semapv:UnspecifiedMatching MONDO:0017068 upper thoracic spina bifida aperta skos:exactMatch UMLS:C5439507 semapv:UnspecifiedMatching MONDO:0017068 upper thoracic spina bifida aperta skos:exactMatch icd11.foundation:772010291 Upper thoracic spina bifida aperta semapv:UnspecifiedMatching MONDO:0017069 spina bifida cystica skos:exactMatch MEDGEN:21277 semapv:UnspecifiedMatching MONDO:0017069 spina bifida cystica skos:exactMatch NCIT:C101201 Myelomeningocele semapv:UnspecifiedMatching MONDO:0017069 spina bifida cystica skos:exactMatch Orphanet:268744 Spinal dysraphism with a posterior meningocele semapv:UnspecifiedMatching MONDO:0017069 spina bifida cystica skos:exactMatch UMLS:C0037917 semapv:UnspecifiedMatching MONDO:0017069 spina bifida cystica skos:exactMatch icd11.foundation:979482551 Spina bifida cystica semapv:UnspecifiedMatching MONDO:0017069 spina bifida cystica skos:exactMatch mesh:D016137 semapv:UnspecifiedMatching MONDO:0017076 posterior meningocele skos:exactMatch MEDGEN:1806905 semapv:UnspecifiedMatching MONDO:0017076 posterior meningocele skos:exactMatch Orphanet:268810 Isolated posterior meningocele semapv:UnspecifiedMatching MONDO:0017076 posterior meningocele skos:exactMatch UMLS:C5680741 semapv:UnspecifiedMatching MONDO:0017076 posterior meningocele skos:exactMatch icd11.foundation:1464755755 Posterior meningocele semapv:UnspecifiedMatching MONDO:0017077 myelocystocele skos:exactMatch MEDGEN:1639659 semapv:UnspecifiedMatching MONDO:0017077 myelocystocele skos:exactMatch Orphanet:268813 Myelocystocele semapv:UnspecifiedMatching MONDO:0017077 myelocystocele skos:exactMatch SCTID:203994003 semapv:UnspecifiedMatching MONDO:0017077 myelocystocele skos:exactMatch UMLS:C4551677 semapv:UnspecifiedMatching MONDO:0017077 myelocystocele skos:exactMatch icd11.foundation:863949070 Myelocystocele semapv:UnspecifiedMatching MONDO:0017078 cephalocele skos:exactMatch ICD10CM:Q01 Encephalocele semapv:UnspecifiedMatching MONDO:0017078 cephalocele skos:exactMatch MEDGEN:4934 semapv:UnspecifiedMatching MONDO:0017078 cephalocele skos:exactMatch NCIT:C84687 Encephalocele semapv:UnspecifiedMatching MONDO:0017078 cephalocele skos:exactMatch Orphanet:268817 Cephalocele semapv:UnspecifiedMatching MONDO:0017078 cephalocele skos:exactMatch SCTID:55999004 semapv:UnspecifiedMatching MONDO:0017078 cephalocele skos:exactMatch UMLS:C0014065 semapv:UnspecifiedMatching MONDO:0017078 cephalocele skos:exactMatch icd11.foundation:1520916568 Cephalocele semapv:UnspecifiedMatching MONDO:0017079 meningoencephalocele skos:exactMatch MEDGEN:82743 semapv:UnspecifiedMatching MONDO:0017079 meningoencephalocele skos:exactMatch NCIT:C124517 Cranial Meningocele semapv:UnspecifiedMatching MONDO:0017079 meningoencephalocele skos:exactMatch Orphanet:268820 Cranial meningocele semapv:UnspecifiedMatching MONDO:0017079 meningoencephalocele skos:exactMatch SCTID:52330001 semapv:UnspecifiedMatching MONDO:0017079 meningoencephalocele skos:exactMatch UMLS:C0266456 semapv:UnspecifiedMatching MONDO:0017080 occipital encephalocele skos:exactMatch ICD10CM:Q01.2 Occipital encephalocele semapv:UnspecifiedMatching MONDO:0017080 occipital encephalocele skos:exactMatch MEDGEN:4935 semapv:UnspecifiedMatching MONDO:0017080 occipital encephalocele skos:exactMatch Orphanet:268823 Occipital encephalocele semapv:UnspecifiedMatching MONDO:0017080 occipital encephalocele skos:exactMatch SCTID:42376006 semapv:UnspecifiedMatching MONDO:0017080 occipital encephalocele skos:exactMatch UMLS:C0014067 semapv:UnspecifiedMatching MONDO:0017080 occipital encephalocele skos:exactMatch icd11.foundation:1075031814 Occipital encephalocele semapv:UnspecifiedMatching MONDO:0017081 parietal encephalocele skos:exactMatch MEDGEN:488903 semapv:UnspecifiedMatching MONDO:0017081 parietal encephalocele skos:exactMatch Orphanet:268826 Parietal encephalocele semapv:UnspecifiedMatching MONDO:0017081 parietal encephalocele skos:exactMatch SCTID:253109005 semapv:UnspecifiedMatching MONDO:0017081 parietal encephalocele skos:exactMatch UMLS:C0431294 semapv:UnspecifiedMatching MONDO:0017081 parietal encephalocele skos:exactMatch icd11.foundation:1122294944 Parietal encephalocele semapv:UnspecifiedMatching MONDO:0017082 basal encephalocele skos:exactMatch MEDGEN:868771 semapv:UnspecifiedMatching MONDO:0017082 basal encephalocele skos:exactMatch Orphanet:268829 Basal encephalocele semapv:UnspecifiedMatching MONDO:0017082 basal encephalocele skos:exactMatch UMLS:C4023176 semapv:UnspecifiedMatching MONDO:0017082 basal encephalocele skos:exactMatch icd11.foundation:533416539 Basal encephalocele semapv:UnspecifiedMatching MONDO:0017083 obsolete lipoma associated with neurospinal dysraphism skos:exactMatch Orphanet:268832 OBSOLETE: Lipoma associated with neurospinal dysraphism semapv:UnspecifiedMatching MONDO:0017084 leptomyelolipoma skos:exactMatch MEDGEN:1657711 semapv:UnspecifiedMatching MONDO:0017084 leptomyelolipoma skos:exactMatch UMLS:C4749649 semapv:UnspecifiedMatching MONDO:0017084 leptomyelolipoma skos:exactMatch icd11.foundation:1479116207 Leptomyelolipoma semapv:UnspecifiedMatching MONDO:0017085 obsolete malformation of the neurenteric canal, spinal cord and column skos:exactMatch Orphanet:268843 Malformation of the neurenteric canal, spinal cord and column semapv:UnspecifiedMatching MONDO:0017086 primary tethered cord syndrome skos:exactMatch MEDGEN:1636724 semapv:UnspecifiedMatching MONDO:0017086 primary tethered cord syndrome skos:exactMatch Orphanet:268861 Primary tethered cord syndrome semapv:UnspecifiedMatching MONDO:0017086 primary tethered cord syndrome skos:exactMatch SCTID:70534000 semapv:UnspecifiedMatching MONDO:0017086 primary tethered cord syndrome skos:exactMatch UMLS:C4708602 semapv:UnspecifiedMatching MONDO:0017086 primary tethered cord syndrome skos:exactMatch icd11.foundation:66705662 Primary tethered cord syndrome semapv:UnspecifiedMatching MONDO:0017087 neurenteric cyst skos:exactMatch MEDGEN:14343 semapv:UnspecifiedMatching MONDO:0017087 neurenteric cyst skos:exactMatch Orphanet:268865 Neurenteric cyst semapv:UnspecifiedMatching MONDO:0017087 neurenteric cyst skos:exactMatch UMLS:C0027806 semapv:UnspecifiedMatching MONDO:0017087 neurenteric cyst skos:exactMatch icd11.foundation:172158971 Neurenteric cyst semapv:UnspecifiedMatching MONDO:0017088 isolated amyelia skos:exactMatch MEDGEN:451024 semapv:UnspecifiedMatching MONDO:0017088 isolated amyelia skos:exactMatch Orphanet:268868 Isolated amyelia semapv:UnspecifiedMatching MONDO:0017088 isolated amyelia skos:exactMatch UMLS:C0266510 semapv:UnspecifiedMatching MONDO:0017088 isolated amyelia skos:exactMatch icd11.foundation:1787577133 Amyelia semapv:UnspecifiedMatching MONDO:0017089 isolated megalencephaly skos:exactMatch MEDGEN:439426 semapv:UnspecifiedMatching MONDO:0017089 isolated megalencephaly skos:exactMatch UMLS:C2720434 semapv:UnspecifiedMatching MONDO:0017090 obsolete midline cerebral malformation skos:exactMatch Orphanet:268926 Midline cerebral malformation semapv:UnspecifiedMatching MONDO:0017091 bilateral polymicrogyria skos:exactMatch MEDGEN:1647593 semapv:UnspecifiedMatching MONDO:0017091 bilateral polymicrogyria skos:exactMatch Orphanet:268940 Bilateral polymicrogyria semapv:UnspecifiedMatching MONDO:0017091 bilateral polymicrogyria skos:exactMatch SCTID:765757003 semapv:UnspecifiedMatching MONDO:0017091 bilateral polymicrogyria skos:exactMatch UMLS:C4707565 semapv:UnspecifiedMatching MONDO:0017091 bilateral polymicrogyria skos:exactMatch icd11.foundation:422828750 Bilateral polymicrogyria semapv:UnspecifiedMatching MONDO:0017092 unilateral polymicrogyria skos:exactMatch MEDGEN:870513 semapv:UnspecifiedMatching MONDO:0017092 unilateral polymicrogyria skos:exactMatch Orphanet:268943 Unilateral polymicrogyria semapv:UnspecifiedMatching MONDO:0017092 unilateral polymicrogyria skos:exactMatch SCTID:715905006 semapv:UnspecifiedMatching MONDO:0017092 unilateral polymicrogyria skos:exactMatch UMLS:C4024960 semapv:UnspecifiedMatching MONDO:0017092 unilateral polymicrogyria skos:exactMatch icd11.foundation:782302128 Unilateral polymicrogyria semapv:UnspecifiedMatching MONDO:0017093 unilateral focal polymicrogyria skos:exactMatch DOID:0080919 unilateral focal polymicrogyria semapv:UnspecifiedMatching MONDO:0017093 unilateral focal polymicrogyria skos:exactMatch MEDGEN:1842371 semapv:UnspecifiedMatching MONDO:0017093 unilateral focal polymicrogyria skos:exactMatch Orphanet:268947 Unilateral focal polymicrogyria semapv:UnspecifiedMatching MONDO:0017093 unilateral focal polymicrogyria skos:exactMatch UMLS:C5680773 semapv:UnspecifiedMatching MONDO:0017093 unilateral focal polymicrogyria skos:exactMatch icd11.foundation:1006662041 Unilateral focal polymicrogyria semapv:UnspecifiedMatching MONDO:0017094 cerebral cortical dysplasia skos:exactMatch MEDGEN:98129 semapv:UnspecifiedMatching MONDO:0017094 cerebral cortical dysplasia skos:exactMatch NCIT:C42088 Cortical Dysplasia semapv:UnspecifiedMatching MONDO:0017094 cerebral cortical dysplasia skos:exactMatch Orphanet:268950 Cerebral cortical dysplasia semapv:UnspecifiedMatching MONDO:0017094 cerebral cortical dysplasia skos:exactMatch SCTID:253153000 semapv:UnspecifiedMatching MONDO:0017094 cerebral cortical dysplasia skos:exactMatch UMLS:C0431380 semapv:UnspecifiedMatching MONDO:0017094 cerebral cortical dysplasia skos:exactMatch icd11.foundation:1352548261 Cortical dysplasia semapv:UnspecifiedMatching MONDO:0017094 cerebral cortical dysplasia skos:exactMatch mesh:D054220 semapv:UnspecifiedMatching MONDO:0017095 isolated focal cortical dysplasia type I skos:exactMatch MEDGEN:1843077 semapv:UnspecifiedMatching MONDO:0017095 isolated focal cortical dysplasia type I skos:exactMatch Orphanet:268961 Isolated focal cortical dysplasia type I semapv:UnspecifiedMatching MONDO:0017095 isolated focal cortical dysplasia type I skos:exactMatch UMLS:C5679772 semapv:UnspecifiedMatching MONDO:0017096 isolated focal cortical dysplasia type Ia skos:exactMatch MEDGEN:1843115 semapv:UnspecifiedMatching MONDO:0017096 isolated focal cortical dysplasia type Ia skos:exactMatch Orphanet:268973 Isolated focal cortical dysplasia type Ia semapv:UnspecifiedMatching MONDO:0017096 isolated focal cortical dysplasia type Ia skos:exactMatch UMLS:C5679767 semapv:UnspecifiedMatching MONDO:0017097 isolated focal cortical dysplasia type Ib skos:exactMatch MEDGEN:1842666 semapv:UnspecifiedMatching MONDO:0017097 isolated focal cortical dysplasia type Ib skos:exactMatch Orphanet:268980 Isolated focal cortical dysplasia type Ib semapv:UnspecifiedMatching MONDO:0017097 isolated focal cortical dysplasia type Ib skos:exactMatch UMLS:C5679765 semapv:UnspecifiedMatching MONDO:0017098 isolated focal cortical dysplasia type Ic skos:exactMatch MEDGEN:1842276 semapv:UnspecifiedMatching MONDO:0017098 isolated focal cortical dysplasia type Ic skos:exactMatch Orphanet:268987 Isolated focal cortical dysplasia type Ic semapv:UnspecifiedMatching MONDO:0017098 isolated focal cortical dysplasia type Ic skos:exactMatch UMLS:C5679766 semapv:UnspecifiedMatching MONDO:0017100 neutropenia-monocytopenia-deafness syndrome skos:exactMatch MEDGEN:1383523 semapv:UnspecifiedMatching MONDO:0017100 neutropenia-monocytopenia-deafness syndrome skos:exactMatch Orphanet:2690 Neutropenia-monocytopenia-deafness syndrome semapv:UnspecifiedMatching MONDO:0017100 neutropenia-monocytopenia-deafness syndrome skos:exactMatch UMLS:C4518430 semapv:UnspecifiedMatching MONDO:0017101 isolated focal cortical dysplasia type IIa skos:exactMatch MEDGEN:375876 semapv:UnspecifiedMatching MONDO:0017101 isolated focal cortical dysplasia type IIa skos:exactMatch Orphanet:269001 Isolated focal cortical dysplasia type IIa semapv:UnspecifiedMatching MONDO:0017101 isolated focal cortical dysplasia type IIa skos:exactMatch UMLS:C1846386 semapv:UnspecifiedMatching MONDO:0017102 isolated focal cortical dysplasia type IIb skos:exactMatch MEDGEN:1842232 semapv:UnspecifiedMatching MONDO:0017102 isolated focal cortical dysplasia type IIb skos:exactMatch Orphanet:269008 Isolated focal cortical dysplasia type IIb semapv:UnspecifiedMatching MONDO:0017102 isolated focal cortical dysplasia type IIb skos:exactMatch UMLS:C5679768 semapv:UnspecifiedMatching MONDO:0017103 encephaloclastic disorder skos:exactMatch MEDGEN:1843179 semapv:UnspecifiedMatching MONDO:0017103 encephaloclastic disorder skos:exactMatch Orphanet:269190 Encephaloclastic disorder semapv:UnspecifiedMatching MONDO:0017103 encephaloclastic disorder skos:exactMatch UMLS:C5680772 semapv:UnspecifiedMatching MONDO:0017103 encephaloclastic disorder skos:exactMatch icd11.foundation:1436588898 Encephaloclastic disorders semapv:UnspecifiedMatching MONDO:0017104 obsolete central nervous system cystic malformation skos:exactMatch Orphanet:269194 Central nervous system cystic malformation semapv:UnspecifiedMatching MONDO:0017105 glioependymal/ependymal cyst skos:exactMatch MEDGEN:90929 semapv:UnspecifiedMatching MONDO:0017105 glioependymal/ependymal cyst skos:exactMatch Orphanet:269197 Glioependymal/ependymal cyst semapv:UnspecifiedMatching MONDO:0017105 glioependymal/ependymal cyst skos:exactMatch UMLS:C0338599 semapv:UnspecifiedMatching MONDO:0017106 retrocerebellar cyst skos:exactMatch MEDGEN:335172 semapv:UnspecifiedMatching MONDO:0017106 retrocerebellar cyst skos:exactMatch UMLS:C1845370 semapv:UnspecifiedMatching MONDO:0017107 isolated cerebellar vermis agenesis skos:exactMatch MEDGEN:1814464 semapv:UnspecifiedMatching MONDO:0017107 isolated cerebellar vermis agenesis skos:exactMatch Orphanet:269203 Isolated cerebellar vermis agenesis semapv:UnspecifiedMatching MONDO:0017107 isolated cerebellar vermis agenesis skos:exactMatch UMLS:C5680776 semapv:UnspecifiedMatching MONDO:0017108 isolated total cerebellar vermis agenesis skos:exactMatch MEDGEN:1842540 semapv:UnspecifiedMatching MONDO:0017108 isolated total cerebellar vermis agenesis skos:exactMatch Orphanet:269206 Isolated total cerebellar vermis agenesis semapv:UnspecifiedMatching MONDO:0017108 isolated total cerebellar vermis agenesis skos:exactMatch UMLS:C5680781 semapv:UnspecifiedMatching MONDO:0017109 isolated partial cerebellar vermis agenesis skos:exactMatch MEDGEN:1842645 semapv:UnspecifiedMatching MONDO:0017109 isolated partial cerebellar vermis agenesis skos:exactMatch Orphanet:269209 Isolated partial cerebellar vermis agenesis semapv:UnspecifiedMatching MONDO:0017109 isolated partial cerebellar vermis agenesis skos:exactMatch UMLS:C5680780 semapv:UnspecifiedMatching MONDO:0017110 isolated Dandy-Walker malformation with hydrocephalus skos:exactMatch MEDGEN:1842616 semapv:UnspecifiedMatching MONDO:0017110 isolated Dandy-Walker malformation with hydrocephalus skos:exactMatch Orphanet:269212 Isolated Dandy-Walker malformation with hydrocephalus semapv:UnspecifiedMatching MONDO:0017110 isolated Dandy-Walker malformation with hydrocephalus skos:exactMatch UMLS:C5680779 semapv:UnspecifiedMatching MONDO:0017111 isolated Dandy-Walker malformation without hydrocephalus skos:exactMatch MEDGEN:1842486 semapv:UnspecifiedMatching MONDO:0017111 isolated Dandy-Walker malformation without hydrocephalus skos:exactMatch Orphanet:269215 Isolated Dandy-Walker malformation without hydrocephalus semapv:UnspecifiedMatching MONDO:0017111 isolated Dandy-Walker malformation without hydrocephalus skos:exactMatch UMLS:C5680778 semapv:UnspecifiedMatching MONDO:0017112 isolated unilateral hemispheric cerebellar hypoplasia skos:exactMatch MEDGEN:1638819 semapv:UnspecifiedMatching MONDO:0017112 isolated unilateral hemispheric cerebellar hypoplasia skos:exactMatch Orphanet:269218 Isolated unilateral hemispheric cerebellar hypoplasia semapv:UnspecifiedMatching MONDO:0017112 isolated unilateral hemispheric cerebellar hypoplasia skos:exactMatch SCTID:766934006 semapv:UnspecifiedMatching MONDO:0017112 isolated unilateral hemispheric cerebellar hypoplasia skos:exactMatch UMLS:C4707885 semapv:UnspecifiedMatching MONDO:0017112 isolated unilateral hemispheric cerebellar hypoplasia skos:exactMatch icd11.foundation:1960392411 Isolated unilateral hemispheric cerebellar hypoplasia semapv:UnspecifiedMatching MONDO:0017113 isolated bilateral hemispheric cerebellar hypoplasia skos:exactMatch MEDGEN:1657026 semapv:UnspecifiedMatching MONDO:0017113 isolated bilateral hemispheric cerebellar hypoplasia skos:exactMatch Orphanet:269221 Isolated bilateral hemispheric cerebellar hypoplasia semapv:UnspecifiedMatching MONDO:0017113 isolated bilateral hemispheric cerebellar hypoplasia skos:exactMatch UMLS:C4749791 semapv:UnspecifiedMatching MONDO:0017113 isolated bilateral hemispheric cerebellar hypoplasia skos:exactMatch icd11.foundation:1366151963 Isolated bilateral hemispheric cerebellar hypoplasia semapv:UnspecifiedMatching MONDO:0017114 obsolete global cerebellar malformation skos:exactMatch Orphanet:269224 Global cerebellar malformation semapv:UnspecifiedMatching MONDO:0017116 congenital communicating hydrocephalus skos:exactMatch MEDGEN:1842324 semapv:UnspecifiedMatching MONDO:0017116 congenital communicating hydrocephalus skos:exactMatch Orphanet:269505 Congenital communicating hydrocephalus semapv:UnspecifiedMatching MONDO:0017116 congenital communicating hydrocephalus skos:exactMatch UMLS:C5679774 semapv:UnspecifiedMatching MONDO:0017117 congenital non-communicating hydrocephalus skos:exactMatch MEDGEN:1616373 semapv:UnspecifiedMatching MONDO:0017117 congenital non-communicating hydrocephalus skos:exactMatch Orphanet:269510 Congenital non-communicating hydrocephalus semapv:UnspecifiedMatching MONDO:0017117 congenital non-communicating hydrocephalus skos:exactMatch SCTID:762295002 semapv:UnspecifiedMatching MONDO:0017117 congenital non-communicating hydrocephalus skos:exactMatch UMLS:C4546092 semapv:UnspecifiedMatching MONDO:0017118 obsolete syndrome with a cerebellar malformation as major feature skos:exactMatch Orphanet:269523 Syndrome with a cerebellar malformation as a major feature semapv:UnspecifiedMatching MONDO:0017119 obsolete syndrome with microcephaly as major feature skos:exactMatch Orphanet:269528 Syndrome with microcephaly as a major feature semapv:UnspecifiedMatching MONDO:0017119 obsolete syndrome with microcephaly as major feature skos:exactMatch icd11.foundation:2011102370 Syndromes with microcephaly as a major feature semapv:UnspecifiedMatching MONDO:0017120 obsolete other syndrome with a central nervous system malformation as major feature skos:exactMatch Orphanet:269531 Other syndrome with a central nervous system malformation as a major feature semapv:UnspecifiedMatching MONDO:0017121 obsolete syndrome with a Dandy-Walker malformation as major feature skos:exactMatch Orphanet:269546 Syndrome with a Dandy-Walker malformation as a major feature semapv:UnspecifiedMatching MONDO:0017122 obsolete genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature skos:exactMatch Orphanet:269573 Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature semapv:UnspecifiedMatching MONDO:0017123 arthrogryposis-renal dysfunction-cholestasis syndrome skos:exactMatch DOID:0050763 ARC syndrome semapv:UnspecifiedMatching MONDO:0017123 arthrogryposis-renal dysfunction-cholestasis syndrome skos:exactMatch MEDGEN:1647210 semapv:UnspecifiedMatching MONDO:0017123 arthrogryposis-renal dysfunction-cholestasis syndrome skos:exactMatch OMIMPS:208085 Arthrogryposis, renal dysfunction, and cholestasis semapv:UnspecifiedMatching MONDO:0017123 arthrogryposis-renal dysfunction-cholestasis syndrome skos:exactMatch Orphanet:2697 Arthrogryposis-renal dysfunction-cholestasis syndrome semapv:UnspecifiedMatching MONDO:0017123 arthrogryposis-renal dysfunction-cholestasis syndrome skos:exactMatch SCTID:720513002 semapv:UnspecifiedMatching MONDO:0017123 arthrogryposis-renal dysfunction-cholestasis syndrome skos:exactMatch UMLS:C4551984 semapv:UnspecifiedMatching MONDO:0017123 arthrogryposis-renal dysfunction-cholestasis syndrome skos:exactMatch mesh:C535382 semapv:UnspecifiedMatching MONDO:0017124 noma skos:exactMatch DOID:9672 noma semapv:UnspecifiedMatching MONDO:0017124 noma skos:exactMatch EFO:1001063 semapv:UnspecifiedMatching MONDO:0017124 noma skos:exactMatch ICD10CM:A69.0 Necrotizing ulcerative stomatitis semapv:UnspecifiedMatching MONDO:0017124 noma skos:exactMatch MEDGEN:10366 semapv:UnspecifiedMatching MONDO:0017124 noma skos:exactMatch NCIT:C34852 Gangrenous Stomatitis semapv:UnspecifiedMatching MONDO:0017124 noma skos:exactMatch Orphanet:2700 Noma semapv:UnspecifiedMatching MONDO:0017124 noma skos:exactMatch SCTID:18116006 semapv:UnspecifiedMatching MONDO:0017124 noma skos:exactMatch UMLS:C0028271 semapv:UnspecifiedMatching MONDO:0017124 noma skos:exactMatch icd11.foundation:340823130 Noma semapv:UnspecifiedMatching MONDO:0017124 noma skos:exactMatch mesh:D009625 semapv:UnspecifiedMatching MONDO:0017127 obsolete inherited soft tissue tumor skos:exactMatch Orphanet:271832 Genetic soft tissue tumor semapv:UnspecifiedMatching MONDO:0017128 obsolete inherited digestive tract tumor skos:exactMatch Orphanet:271835 Genetic digestive tract tumor semapv:UnspecifiedMatching MONDO:0017129 obsolete inherited cardiac tumor skos:exactMatch Orphanet:271841 Genetic cardiac tumor semapv:UnspecifiedMatching MONDO:0017130 obsolete genetic urogenital tumor skos:exactMatch Orphanet:271844 Genetic urogenital tumor semapv:UnspecifiedMatching MONDO:0017131 obsolete hereditary cardiac anomaly skos:exactMatch Orphanet:271853 Genetic cardiac anomaly semapv:UnspecifiedMatching MONDO:0017134 odonto-onycho dysplasia-alopecia syndrome skos:exactMatch MEDGEN:1648007 semapv:UnspecifiedMatching MONDO:0017134 odonto-onycho dysplasia-alopecia syndrome skos:exactMatch Orphanet:2722 Odonto-onycho dysplasia-alopecia syndrome semapv:UnspecifiedMatching MONDO:0017134 odonto-onycho dysplasia-alopecia syndrome skos:exactMatch UMLS:C4706599 semapv:UnspecifiedMatching MONDO:0017135 olivopontocerebellar atrophy-deafness syndrome skos:exactMatch MEDGEN:905095 semapv:UnspecifiedMatching MONDO:0017135 olivopontocerebellar atrophy-deafness syndrome skos:exactMatch Orphanet:2732 Olivopontocerebellar atrophy-deafness syndrome semapv:UnspecifiedMatching MONDO:0017135 olivopontocerebellar atrophy-deafness syndrome skos:exactMatch UMLS:C4275113 semapv:UnspecifiedMatching MONDO:0017136 omodysplasia skos:exactMatch DOID:0060288 omodysplasia semapv:UnspecifiedMatching MONDO:0017136 omodysplasia skos:exactMatch MEDGEN:1388973 semapv:UnspecifiedMatching MONDO:0017136 omodysplasia skos:exactMatch OMIMPS:258315 Omodysplasia semapv:UnspecifiedMatching MONDO:0017136 omodysplasia skos:exactMatch Orphanet:2733 Omodysplasia semapv:UnspecifiedMatching MONDO:0017136 omodysplasia skos:exactMatch SCTID:725164008 semapv:UnspecifiedMatching MONDO:0017136 omodysplasia skos:exactMatch UMLS:C4510897 semapv:UnspecifiedMatching MONDO:0017136 omodysplasia skos:exactMatch icd11.foundation:1081897527 Omodysplasia semapv:UnspecifiedMatching MONDO:0017137 onchocerciasis skos:exactMatch DOID:11678 onchocerciasis semapv:UnspecifiedMatching MONDO:0017137 onchocerciasis skos:exactMatch EFO:0007402 semapv:UnspecifiedMatching MONDO:0017137 onchocerciasis skos:exactMatch ICD10CM:B73 Onchocerciasis semapv:UnspecifiedMatching MONDO:0017137 onchocerciasis skos:exactMatch ICD10WHO:B73 Onchocerciasis semapv:UnspecifiedMatching MONDO:0017137 onchocerciasis skos:exactMatch MEDGEN:14477 semapv:UnspecifiedMatching MONDO:0017137 onchocerciasis skos:exactMatch NCIT:C34861 Onchocerciasis semapv:UnspecifiedMatching MONDO:0017137 onchocerciasis skos:exactMatch Orphanet:2737 Onchocerciasis semapv:UnspecifiedMatching MONDO:0017137 onchocerciasis skos:exactMatch SCTID:38539003 semapv:UnspecifiedMatching MONDO:0017137 onchocerciasis skos:exactMatch UMLS:C0029001 semapv:UnspecifiedMatching MONDO:0017137 onchocerciasis skos:exactMatch icd11.foundation:106136071 Onchocerciasis semapv:UnspecifiedMatching MONDO:0017137 onchocerciasis skos:exactMatch mesh:D009855 semapv:UnspecifiedMatching MONDO:0017138 Opitz G/BBB syndrome skos:exactMatch DOID:0080697 Opitz GBBB syndrome semapv:UnspecifiedMatching MONDO:0017138 Opitz G/BBB syndrome skos:exactMatch NCIT:C125487 Opitz G/BBB Syndrome semapv:UnspecifiedMatching MONDO:0017138 Opitz G/BBB syndrome skos:exactMatch Orphanet:2745 Opitz GBBB syndrome semapv:UnspecifiedMatching MONDO:0017138 Opitz G/BBB syndrome skos:exactMatch SCTID:81771002 semapv:UnspecifiedMatching MONDO:0017139 oromandibular-limb hypogenesis syndrome skos:exactMatch MEDGEN:1843329 semapv:UnspecifiedMatching MONDO:0017139 oromandibular-limb hypogenesis syndrome skos:exactMatch Orphanet:2749 Oromandibular-limb hypogenesis syndrome semapv:UnspecifiedMatching MONDO:0017139 oromandibular-limb hypogenesis syndrome skos:exactMatch UMLS:C5679764 semapv:UnspecifiedMatching MONDO:0017139 oromandibular-limb hypogenesis syndrome skos:exactMatch icd11.foundation:1665391511 Oromandibular-limb hypogenesis syndrome semapv:UnspecifiedMatching MONDO:0017140 L1 syndrome skos:exactMatch MEDGEN:1830362 semapv:UnspecifiedMatching MONDO:0017140 L1 syndrome skos:exactMatch Orphanet:275543 L1 syndrome semapv:UnspecifiedMatching MONDO:0017140 L1 syndrome skos:exactMatch UMLS:C5779710 semapv:UnspecifiedMatching MONDO:0017140 L1 syndrome skos:exactMatch icd11.foundation:1457804873 L1 syndrome semapv:UnspecifiedMatching MONDO:0017141 obsolete hemorrhagic disorder due to a constitutional thrombocytopenia skos:exactMatch Orphanet:275729 Rare hemorrhagic disorder due to a constitutional thrombocytopenia semapv:UnspecifiedMatching MONDO:0017142 obsolete hemorrhagic disorder due to a qualitative platelet defect skos:exactMatch Orphanet:275736 Rare hemorrhagic disorder due to a qualitative platelet defect semapv:UnspecifiedMatching MONDO:0017143 obsolete genetic infertility skos:exactMatch Orphanet:275742 Genetic infertility semapv:UnspecifiedMatching MONDO:0017144 obsolete alpha-thalassemia and related diseases skos:exactMatch Orphanet:275745 Alpha-thalassemia and related disorders semapv:UnspecifiedMatching MONDO:0017145 beta-thalassemia and related diseases skos:exactMatch MEDGEN:1826095 semapv:UnspecifiedMatching MONDO:0017145 beta-thalassemia and related diseases skos:exactMatch Orphanet:275749 Beta-thalassemia and related diseases semapv:UnspecifiedMatching MONDO:0017145 beta-thalassemia and related diseases skos:exactMatch UMLS:C5680748 semapv:UnspecifiedMatching MONDO:0017146 obsolete sickle cell disease and related diseases skos:exactMatch Orphanet:275752 Sickle cell disease semapv:UnspecifiedMatching MONDO:0017148 heritable pulmonary arterial hypertension skos:exactMatch MEDGEN:90953 semapv:UnspecifiedMatching MONDO:0017148 heritable pulmonary arterial hypertension skos:exactMatch NCIT:C121945 Heritable Pulmonary Arterial Hypertension semapv:UnspecifiedMatching MONDO:0017148 heritable pulmonary arterial hypertension skos:exactMatch OMIMPS:178600 Pulmonary hypertension, primary (see also hereditary hemorrhagic telangiectasia ({PS187300}) semapv:UnspecifiedMatching MONDO:0017148 heritable pulmonary arterial hypertension skos:exactMatch Orphanet:275777 Heritable pulmonary arterial hypertension semapv:UnspecifiedMatching MONDO:0017148 heritable pulmonary arterial hypertension skos:exactMatch SCTID:697897003 semapv:UnspecifiedMatching MONDO:0017148 heritable pulmonary arterial hypertension skos:exactMatch UMLS:C0340543 semapv:UnspecifiedMatching MONDO:0017148 heritable pulmonary arterial hypertension skos:exactMatch icd11.foundation:943760810 Familial pulmonary arterial hypertension semapv:UnspecifiedMatching MONDO:0017149 drug- or toxin-induced pulmonary arterial hypertension skos:exactMatch EFO:0009192 semapv:UnspecifiedMatching MONDO:0017149 drug- or toxin-induced pulmonary arterial hypertension skos:exactMatch MEDGEN:573792 semapv:UnspecifiedMatching MONDO:0017149 drug- or toxin-induced pulmonary arterial hypertension skos:exactMatch Orphanet:275786 Drug- or toxin-induced pulmonary arterial hypertension semapv:UnspecifiedMatching MONDO:0017149 drug- or toxin-induced pulmonary arterial hypertension skos:exactMatch UMLS:C0340544 semapv:UnspecifiedMatching MONDO:0017150 obsolete pulmonary arterial hypertension associated with another disease skos:exactMatch Orphanet:275791 Pulmonary arterial hypertension associated with another disease semapv:UnspecifiedMatching MONDO:0017151 obsolete pulmonary arterial hypertension associated with connective tissue disease skos:exactMatch Orphanet:275798 Pulmonary arterial hypertension associated with connective tissue disease semapv:UnspecifiedMatching MONDO:0017151 obsolete pulmonary arterial hypertension associated with connective tissue disease skos:exactMatch SCTID:697903007 semapv:UnspecifiedMatching MONDO:0017152 obsolete pulmonary arterial hypertension associated with congenital heart disease skos:exactMatch Orphanet:275803 Pulmonary arterial hypertension associated with congenital heart disease semapv:UnspecifiedMatching MONDO:0017152 obsolete pulmonary arterial hypertension associated with congenital heart disease skos:exactMatch SCTID:697905000 semapv:UnspecifiedMatching MONDO:0017153 obsolete pulmonary arterial hypertension associated with HIV infection skos:exactMatch Orphanet:275808 Pulmonary arterial hypertension associated with HIV infection semapv:UnspecifiedMatching MONDO:0017153 obsolete pulmonary arterial hypertension associated with HIV infection skos:exactMatch SCTID:697904001 semapv:UnspecifiedMatching MONDO:0017154 obsolete pulmonary arterial hypertension associated with portal hypertension skos:exactMatch Orphanet:275813 Pulmonary arterial hypertension associated with portal hypertension semapv:UnspecifiedMatching MONDO:0017154 obsolete pulmonary arterial hypertension associated with portal hypertension skos:exactMatch SCTID:445237003 semapv:UnspecifiedMatching MONDO:0017155 obsolete pulmonary arterial hypertension associated with schistosomiasis skos:exactMatch Orphanet:275823 Pulmonary arterial hypertension associated with schistosomiasis semapv:UnspecifiedMatching MONDO:0017155 obsolete pulmonary arterial hypertension associated with schistosomiasis skos:exactMatch SCTID:697907008 semapv:UnspecifiedMatching MONDO:0017156 obsolete pulmonary arterial hypertension associated with chronic hemolytic anemia skos:exactMatch Orphanet:275828 Pulmonary arterial hypertension associated with chronic hemolytic anemia semapv:UnspecifiedMatching MONDO:0017156 obsolete pulmonary arterial hypertension associated with chronic hemolytic anemia skos:exactMatch SCTID:697908003 semapv:UnspecifiedMatching MONDO:0017157 pulmonary hypertension owing to lung disease and/or hypoxia skos:exactMatch MEDGEN:785400 semapv:UnspecifiedMatching MONDO:0017157 pulmonary hypertension owing to lung disease and/or hypoxia skos:exactMatch Orphanet:275837 Pulmonary hypertension owing to lung disease and/or hypoxia semapv:UnspecifiedMatching MONDO:0017157 pulmonary hypertension owing to lung disease and/or hypoxia skos:exactMatch SCTID:697910001 semapv:UnspecifiedMatching MONDO:0017157 pulmonary hypertension owing to lung disease and/or hypoxia skos:exactMatch UMLS:C3698136 semapv:UnspecifiedMatching MONDO:0017158 obsolete pulmonary hypertension with unclear multifactorial mechanism skos:exactMatch Orphanet:275844 Pulmonary hypertension with unclear multifactorial mechanism semapv:UnspecifiedMatching MONDO:0017159 obsolete syndrome with pulmonary hypertension as a major feature skos:exactMatch Orphanet:275853 Syndrome with pulmonary hypertension as a major feature semapv:UnspecifiedMatching MONDO:0017160 behavioral variant of frontotemporal dementia skos:exactMatch MEDGEN:860225 semapv:UnspecifiedMatching MONDO:0017160 behavioral variant of frontotemporal dementia skos:exactMatch Orphanet:275864 Behavioral variant of frontotemporal dementia semapv:UnspecifiedMatching MONDO:0017160 behavioral variant of frontotemporal dementia skos:exactMatch SCTID:716994006 semapv:UnspecifiedMatching MONDO:0017160 behavioral variant of frontotemporal dementia skos:exactMatch UMLS:C4011788 semapv:UnspecifiedMatching MONDO:0017161 frontotemporal dementia with motor neuron disease skos:exactMatch MEDGEN:854771 semapv:UnspecifiedMatching MONDO:0017161 frontotemporal dementia with motor neuron disease skos:exactMatch OMIMPS:105550 Frontotemporal dementia and/or amyotrophic lateral sclerosis semapv:UnspecifiedMatching MONDO:0017161 frontotemporal dementia with motor neuron disease skos:exactMatch Orphanet:275872 Frontotemporal dementia with motor neuron disease semapv:UnspecifiedMatching MONDO:0017161 frontotemporal dementia with motor neuron disease skos:exactMatch UMLS:C3888102 semapv:UnspecifiedMatching MONDO:0017161 frontotemporal dementia with motor neuron disease skos:exactMatch icd11.foundation:1171850356 Frontotemporal dementia with motor neuron disease semapv:UnspecifiedMatching MONDO:0017161 frontotemporal dementia with motor neuron disease skos:exactMatch mesh:C566288 semapv:UnspecifiedMatching MONDO:0017162 imperforate oropharynx-costo vetebral anomalies syndrome skos:exactMatch MEDGEN:1663228 semapv:UnspecifiedMatching MONDO:0017162 imperforate oropharynx-costo vetebral anomalies syndrome skos:exactMatch Orphanet:2759 Imperforate oropharynx-costovertebral anomalies syndrome semapv:UnspecifiedMatching MONDO:0017162 imperforate oropharynx-costo vetebral anomalies syndrome skos:exactMatch UMLS:C4749770 semapv:UnspecifiedMatching MONDO:0017163 obsolete hemolytic disease due to fetomaternal alloimmunization skos:exactMatch Orphanet:275938 Hemolytic disease due to fetomaternal alloimmunization semapv:UnspecifiedMatching MONDO:0017164 hemolytic disease of the newborn with Kell alloimmunization skos:exactMatch MEDGEN:632769 semapv:UnspecifiedMatching MONDO:0017164 hemolytic disease of the newborn with Kell alloimmunization skos:exactMatch Orphanet:275944 Hemolytic disease of the newborn with Kell alloimmunization semapv:UnspecifiedMatching MONDO:0017164 hemolytic disease of the newborn with Kell alloimmunization skos:exactMatch UMLS:C0472751 semapv:UnspecifiedMatching MONDO:0017165 bile acid CoA ligase deficiency and defective amidation skos:exactMatch MEDGEN:905864 semapv:UnspecifiedMatching MONDO:0017165 bile acid CoA ligase deficiency and defective amidation skos:exactMatch Orphanet:276066 Bile acid CoA ligase deficiency and defective amidation semapv:UnspecifiedMatching MONDO:0017165 bile acid CoA ligase deficiency and defective amidation skos:exactMatch SCTID:717047007 semapv:UnspecifiedMatching MONDO:0017165 bile acid CoA ligase deficiency and defective amidation skos:exactMatch UMLS:C4274079 semapv:UnspecifiedMatching MONDO:0017166 obsolete rare tumor of salivary glands skos:exactMatch Orphanet:276142 Rare tumor of salivary glands semapv:UnspecifiedMatching MONDO:0017167 malignant epithelial tumor of salivary glands skos:exactMatch MEDGEN:1674486 semapv:UnspecifiedMatching MONDO:0017167 malignant epithelial tumor of salivary glands skos:exactMatch Orphanet:276145 Malignant epithelial tumor of salivary glands semapv:UnspecifiedMatching MONDO:0017167 malignant epithelial tumor of salivary glands skos:exactMatch UMLS:C5190832 semapv:UnspecifiedMatching MONDO:0017168 benign epithelial tumor of salivary glands skos:exactMatch MEDGEN:1684009 semapv:UnspecifiedMatching MONDO:0017168 benign epithelial tumor of salivary glands skos:exactMatch Orphanet:276148 Benign epithelial tumor of salivary glands semapv:UnspecifiedMatching MONDO:0017168 benign epithelial tumor of salivary glands skos:exactMatch UMLS:C5190858 semapv:UnspecifiedMatching MONDO:0017169 multiple endocrine neoplasia skos:exactMatch DOID:3125 multiple endocrine neoplasia semapv:UnspecifiedMatching MONDO:0017169 multiple endocrine neoplasia skos:exactMatch ICD10CM:E31.2 Multiple endocrine neoplasia [MEN] syndromes semapv:UnspecifiedMatching MONDO:0017169 multiple endocrine neoplasia skos:exactMatch MEDGEN:45036 semapv:UnspecifiedMatching MONDO:0017169 multiple endocrine neoplasia skos:exactMatch NCIT:C6432 Multiple Endocrine Neoplasia semapv:UnspecifiedMatching MONDO:0017169 multiple endocrine neoplasia skos:exactMatch OMIMPS:131100 Multiple endocrine neoplasia semapv:UnspecifiedMatching MONDO:0017169 multiple endocrine neoplasia skos:exactMatch Orphanet:276161 Multiple endocrine neoplasia semapv:UnspecifiedMatching MONDO:0017169 multiple endocrine neoplasia skos:exactMatch SCTID:46724008 semapv:UnspecifiedMatching MONDO:0017169 multiple endocrine neoplasia skos:exactMatch UMLS:C0027662 semapv:UnspecifiedMatching MONDO:0017169 multiple endocrine neoplasia skos:exactMatch mesh:D009377 semapv:UnspecifiedMatching MONDO:0017170 idiopathic recurrent stupor skos:exactMatch MEDGEN:1645620 semapv:UnspecifiedMatching MONDO:0017170 idiopathic recurrent stupor skos:exactMatch Orphanet:276174 Idiopathic recurrent stupor semapv:UnspecifiedMatching MONDO:0017170 idiopathic recurrent stupor skos:exactMatch SCTID:763739002 semapv:UnspecifiedMatching MONDO:0017170 idiopathic recurrent stupor skos:exactMatch UMLS:C4706562 semapv:UnspecifiedMatching MONDO:0017170 idiopathic recurrent stupor skos:exactMatch icd11.foundation:1473114049 Idiopathic recurrent stupor semapv:UnspecifiedMatching MONDO:0017171 mucopolysaccharidosis type 6, rapidly progressing skos:exactMatch MEDGEN:1842485 semapv:UnspecifiedMatching MONDO:0017171 mucopolysaccharidosis type 6, rapidly progressing skos:exactMatch Orphanet:276212 Mucopolysaccharidosis type 6, rapidly progressing semapv:UnspecifiedMatching MONDO:0017171 mucopolysaccharidosis type 6, rapidly progressing skos:exactMatch SCTID:58263000 semapv:UnspecifiedMatching MONDO:0017171 mucopolysaccharidosis type 6, rapidly progressing skos:exactMatch UMLS:C5679781 semapv:UnspecifiedMatching MONDO:0017172 mucopolysaccharidosis type 6, slowly progressing skos:exactMatch MEDGEN:1842694 semapv:UnspecifiedMatching MONDO:0017172 mucopolysaccharidosis type 6, slowly progressing skos:exactMatch Orphanet:276223 Mucopolysaccharidosis type 6, slowly progressing semapv:UnspecifiedMatching MONDO:0017172 mucopolysaccharidosis type 6, slowly progressing skos:exactMatch SCTID:67854007 semapv:UnspecifiedMatching MONDO:0017172 mucopolysaccharidosis type 6, slowly progressing skos:exactMatch UMLS:C5679780 semapv:UnspecifiedMatching MONDO:0017173 obsolete non-syndromic male infertility due to sperm motility disorder skos:exactMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:UnspecifiedMatching MONDO:0017174 Machado-Joseph disease type 1 skos:exactMatch MEDGEN:155610 semapv:UnspecifiedMatching MONDO:0017174 Machado-Joseph disease type 1 skos:exactMatch Orphanet:276238 Machado-Joseph disease type 1 semapv:UnspecifiedMatching MONDO:0017174 Machado-Joseph disease type 1 skos:exactMatch SCTID:91953003 semapv:UnspecifiedMatching MONDO:0017174 Machado-Joseph disease type 1 skos:exactMatch UMLS:C0751668 semapv:UnspecifiedMatching MONDO:0017174 Machado-Joseph disease type 1 skos:exactMatch icd11.foundation:1094680019 Machado-Joseph disease type 1 semapv:UnspecifiedMatching MONDO:0017175 Machado-Joseph disease type 2 skos:exactMatch MEDGEN:199707 semapv:UnspecifiedMatching MONDO:0017175 Machado-Joseph disease type 2 skos:exactMatch Orphanet:276241 Machado-Joseph disease type 2 semapv:UnspecifiedMatching MONDO:0017175 Machado-Joseph disease type 2 skos:exactMatch SCTID:91954009 semapv:UnspecifiedMatching MONDO:0017175 Machado-Joseph disease type 2 skos:exactMatch UMLS:C0751669 semapv:UnspecifiedMatching MONDO:0017175 Machado-Joseph disease type 2 skos:exactMatch icd11.foundation:1775824880 Machado-Joseph disease type 2 semapv:UnspecifiedMatching MONDO:0017176 Machado-Joseph disease type 3 skos:exactMatch MEDGEN:155611 semapv:UnspecifiedMatching MONDO:0017176 Machado-Joseph disease type 3 skos:exactMatch Orphanet:276244 Machado-Joseph disease type 3 semapv:UnspecifiedMatching MONDO:0017176 Machado-Joseph disease type 3 skos:exactMatch SCTID:91955005 semapv:UnspecifiedMatching MONDO:0017176 Machado-Joseph disease type 3 skos:exactMatch UMLS:C0751670 semapv:UnspecifiedMatching MONDO:0017176 Machado-Joseph disease type 3 skos:exactMatch icd11.foundation:1540439031 Machado-Joseph disease type 3 semapv:UnspecifiedMatching MONDO:0017177 hemihyperplasia-multiple lipomatosis syndrome skos:exactMatch MEDGEN:1651269 semapv:UnspecifiedMatching MONDO:0017177 hemihyperplasia-multiple lipomatosis syndrome skos:exactMatch Orphanet:276280 Hemihyperplasia-multiple lipomatosis syndrome semapv:UnspecifiedMatching MONDO:0017177 hemihyperplasia-multiple lipomatosis syndrome skos:exactMatch UMLS:C4749904 semapv:UnspecifiedMatching MONDO:0017178 osteochondritis dissecans skos:exactMatch DOID:84 osteochondritis dissecans semapv:UnspecifiedMatching MONDO:0017178 osteochondritis dissecans skos:exactMatch ICD10CM:M93.2 Osteochondritis dissecans semapv:UnspecifiedMatching MONDO:0017178 osteochondritis dissecans skos:exactMatch MEDGEN:10494 semapv:UnspecifiedMatching MONDO:0017178 osteochondritis dissecans skos:exactMatch NCIT:C34878 Osteochondritis Dissecans semapv:UnspecifiedMatching MONDO:0017178 osteochondritis dissecans skos:exactMatch Orphanet:2764 Osteochondritis dissecans semapv:UnspecifiedMatching MONDO:0017178 osteochondritis dissecans skos:exactMatch SCTID:82562007 semapv:UnspecifiedMatching MONDO:0017178 osteochondritis dissecans skos:exactMatch UMLS:C0029421 semapv:UnspecifiedMatching MONDO:0017178 osteochondritis dissecans skos:exactMatch icd11.foundation:467851106 Osteochondritis dissecans semapv:UnspecifiedMatching MONDO:0017178 osteochondritis dissecans skos:exactMatch mesh:D010008 semapv:UnspecifiedMatching MONDO:0017179 limbic encephalitis with caspr2 antibodies skos:exactMatch MEDGEN:1634906 semapv:UnspecifiedMatching MONDO:0017179 limbic encephalitis with caspr2 antibodies skos:exactMatch SCTID:763793004 semapv:UnspecifiedMatching MONDO:0017179 limbic encephalitis with caspr2 antibodies skos:exactMatch UMLS:C4706582 semapv:UnspecifiedMatching MONDO:0017180 10q22.3q23.3 microduplication syndrome skos:exactMatch MEDGEN:1682781 semapv:UnspecifiedMatching MONDO:0017180 10q22.3q23.3 microduplication syndrome skos:exactMatch Orphanet:276422 10q22.3q23.3 microduplication syndrome semapv:UnspecifiedMatching MONDO:0017180 10q22.3q23.3 microduplication syndrome skos:exactMatch UMLS:C5190512 semapv:UnspecifiedMatching MONDO:0017181 hypnic headache skos:exactMatch ICD10CM:G44.81 Hypnic headache semapv:UnspecifiedMatching MONDO:0017181 hypnic headache skos:exactMatch MEDGEN:156012 semapv:UnspecifiedMatching MONDO:0017181 hypnic headache skos:exactMatch Orphanet:276429 Hypnic headache semapv:UnspecifiedMatching MONDO:0017181 hypnic headache skos:exactMatch SCTID:122711000119109 semapv:UnspecifiedMatching MONDO:0017181 hypnic headache skos:exactMatch UMLS:C0752150 semapv:UnspecifiedMatching MONDO:0017181 hypnic headache skos:exactMatch icd11.foundation:468065426 Hypnic headache semapv:UnspecifiedMatching MONDO:0017181 hypnic headache skos:exactMatch mesh:D051270 semapv:UnspecifiedMatching MONDO:0017182 familial hyperinsulinism skos:exactMatch MEDGEN:854723 semapv:UnspecifiedMatching MONDO:0017182 familial hyperinsulinism skos:exactMatch NCIT:C131425 Congenital Hyperinsulinism semapv:UnspecifiedMatching MONDO:0017182 familial hyperinsulinism skos:exactMatch Orphanet:276525 Familial hyperinsulinism semapv:UnspecifiedMatching MONDO:0017182 familial hyperinsulinism skos:exactMatch UMLS:C3888018 semapv:UnspecifiedMatching MONDO:0017183 hyperinsulinism due to UCP2 deficiency skos:exactMatch MEDGEN:928751 semapv:UnspecifiedMatching MONDO:0017183 hyperinsulinism due to UCP2 deficiency skos:exactMatch Orphanet:276556 Hyperinsulinism due to UCP2 deficiency semapv:UnspecifiedMatching MONDO:0017183 hyperinsulinism due to UCP2 deficiency skos:exactMatch SCTID:721834007 semapv:UnspecifiedMatching MONDO:0017183 hyperinsulinism due to UCP2 deficiency skos:exactMatch UMLS:C4303082 semapv:UnspecifiedMatching MONDO:0017184 autosomal dominant hyperinsulinism due to SUR1 deficiency skos:exactMatch MEDGEN:900764 semapv:UnspecifiedMatching MONDO:0017184 autosomal dominant hyperinsulinism due to SUR1 deficiency skos:exactMatch Orphanet:276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency semapv:UnspecifiedMatching MONDO:0017184 autosomal dominant hyperinsulinism due to SUR1 deficiency skos:exactMatch SCTID:717046003 semapv:UnspecifiedMatching MONDO:0017184 autosomal dominant hyperinsulinism due to SUR1 deficiency skos:exactMatch UMLS:C4274080 semapv:UnspecifiedMatching MONDO:0017185 autosomal dominant hyperinsulinism due to Kir6.2 deficiency skos:exactMatch MEDGEN:903936 semapv:UnspecifiedMatching MONDO:0017185 autosomal dominant hyperinsulinism due to Kir6.2 deficiency skos:exactMatch Orphanet:276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency semapv:UnspecifiedMatching MONDO:0017185 autosomal dominant hyperinsulinism due to Kir6.2 deficiency skos:exactMatch SCTID:717045004 semapv:UnspecifiedMatching MONDO:0017185 autosomal dominant hyperinsulinism due to Kir6.2 deficiency skos:exactMatch UMLS:C4274081 semapv:UnspecifiedMatching MONDO:0017186 diazoxide-resistant hyperinsulinism skos:exactMatch MEDGEN:1842507 semapv:UnspecifiedMatching MONDO:0017186 diazoxide-resistant hyperinsulinism skos:exactMatch Orphanet:276585 Diazoxide-resistant hyperinsulinism semapv:UnspecifiedMatching MONDO:0017186 diazoxide-resistant hyperinsulinism skos:exactMatch UMLS:C5679778 semapv:UnspecifiedMatching MONDO:0017187 diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency skos:exactMatch MEDGEN:1683284 semapv:UnspecifiedMatching MONDO:0017187 diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency skos:exactMatch Orphanet:276598 Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency semapv:UnspecifiedMatching MONDO:0017187 diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency skos:exactMatch UMLS:C5191059 semapv:UnspecifiedMatching MONDO:0017188 diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency skos:exactMatch MEDGEN:1673560 semapv:UnspecifiedMatching MONDO:0017188 diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency skos:exactMatch Orphanet:276603 Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency semapv:UnspecifiedMatching MONDO:0017188 diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency skos:exactMatch UMLS:C5191060 semapv:UnspecifiedMatching MONDO:0017189 adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia skos:exactMatch MEDGEN:907576 semapv:UnspecifiedMatching MONDO:0017189 adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia skos:exactMatch Orphanet:276608 Non-insulinoma pancreatogenous hypoglycemia syndrome semapv:UnspecifiedMatching MONDO:0017189 adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia skos:exactMatch SCTID:717044000 semapv:UnspecifiedMatching MONDO:0017189 adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia skos:exactMatch UMLS:C4274082 semapv:UnspecifiedMatching MONDO:0017190 sporadic pheochromocytoma/secreting paraganglioma skos:exactMatch MEDGEN:1636854 semapv:UnspecifiedMatching MONDO:0017190 sporadic pheochromocytoma/secreting paraganglioma skos:exactMatch Orphanet:276621 Sporadic pheochromocytoma/secreting paraganglioma semapv:UnspecifiedMatching MONDO:0017190 sporadic pheochromocytoma/secreting paraganglioma skos:exactMatch UMLS:C4707333 semapv:UnspecifiedMatching MONDO:0017193 symptomatic form of Coffin-Lowry syndrome in female carriers skos:exactMatch MEDGEN:1814465 semapv:UnspecifiedMatching MONDO:0017193 symptomatic form of Coffin-Lowry syndrome in female carriers skos:exactMatch Orphanet:276630 Symptomatic form of Coffin-Lowry syndrome in female carriers semapv:UnspecifiedMatching MONDO:0017193 symptomatic form of Coffin-Lowry syndrome in female carriers skos:exactMatch UMLS:C5680787 semapv:UnspecifiedMatching MONDO:0017194 Blount disease skos:exactMatch DOID:14798 Blount's disease semapv:UnspecifiedMatching MONDO:0017194 Blount disease skos:exactMatch MEDGEN:104499 semapv:UnspecifiedMatching MONDO:0017194 Blount disease skos:exactMatch NCIT:C118460 Blount's Disease semapv:UnspecifiedMatching MONDO:0017194 Blount disease skos:exactMatch Orphanet:2768 Blount disease semapv:UnspecifiedMatching MONDO:0017194 Blount disease skos:exactMatch SCTID:79353000 semapv:UnspecifiedMatching MONDO:0017194 Blount disease skos:exactMatch UMLS:C0175756 semapv:UnspecifiedMatching MONDO:0017194 Blount disease skos:exactMatch icd11.foundation:138830223 Blount disease semapv:UnspecifiedMatching MONDO:0017194 Blount disease skos:exactMatch mesh:C536237 semapv:UnspecifiedMatching MONDO:0017195 Bruck syndrome skos:exactMatch DOID:0060231 Bruck syndrome semapv:UnspecifiedMatching MONDO:0017195 Bruck syndrome skos:exactMatch MEDGEN:609420 semapv:UnspecifiedMatching MONDO:0017195 Bruck syndrome skos:exactMatch OMIMPS:259450 Bruck syndrome semapv:UnspecifiedMatching MONDO:0017195 Bruck syndrome skos:exactMatch Orphanet:2771 Bruck syndrome semapv:UnspecifiedMatching MONDO:0017195 Bruck syndrome skos:exactMatch SCTID:254113006 semapv:UnspecifiedMatching MONDO:0017195 Bruck syndrome skos:exactMatch UMLS:C0432253 semapv:UnspecifiedMatching MONDO:0017195 Bruck syndrome skos:exactMatch icd11.foundation:1783996418 Bruck syndrome semapv:UnspecifiedMatching MONDO:0017196 osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome skos:exactMatch MEDGEN:928493 semapv:UnspecifiedMatching MONDO:0017196 osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome skos:exactMatch Orphanet:2773 Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0017196 osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome skos:exactMatch SCTID:722110003 semapv:UnspecifiedMatching MONDO:0017196 osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome skos:exactMatch UMLS:C4302824 semapv:UnspecifiedMatching MONDO:0017196 osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome skos:exactMatch mesh:C535617 semapv:UnspecifiedMatching MONDO:0017197 osteopathia striata-pigmentary dermopathy-white forelock syndrome skos:exactMatch MEDGEN:419711 semapv:UnspecifiedMatching MONDO:0017197 osteopathia striata-pigmentary dermopathy-white forelock syndrome skos:exactMatch Orphanet:2779 Osteopathia striata-pigmentary dermopathy-white forelock syndrome semapv:UnspecifiedMatching MONDO:0017197 osteopathia striata-pigmentary dermopathy-white forelock syndrome skos:exactMatch UMLS:C2931096 semapv:UnspecifiedMatching MONDO:0017197 osteopathia striata-pigmentary dermopathy-white forelock syndrome skos:exactMatch mesh:C536054 semapv:UnspecifiedMatching MONDO:0017198 osteopetrosis skos:exactMatch DOID:13533 osteopetrosis semapv:UnspecifiedMatching MONDO:0017198 osteopetrosis skos:exactMatch ICD10CM:Q78.2 Osteopetrosis semapv:UnspecifiedMatching MONDO:0017198 osteopetrosis skos:exactMatch MEDGEN:18223 semapv:UnspecifiedMatching MONDO:0017198 osteopetrosis skos:exactMatch NCIT:C26840 Osteopetrosis semapv:UnspecifiedMatching MONDO:0017198 osteopetrosis skos:exactMatch Orphanet:2781 Osteopetrosis and related disorders semapv:UnspecifiedMatching MONDO:0017198 osteopetrosis skos:exactMatch SCTID:1926006 semapv:UnspecifiedMatching MONDO:0017198 osteopetrosis skos:exactMatch UMLS:C0029454 semapv:UnspecifiedMatching MONDO:0017198 osteopetrosis skos:exactMatch icd11.foundation:1498426606 Osteopetrosis semapv:UnspecifiedMatching MONDO:0017198 osteopetrosis skos:exactMatch mesh:D010022 semapv:UnspecifiedMatching MONDO:0017199 osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome skos:exactMatch SCTID:716189005 semapv:UnspecifiedMatching MONDO:0017200 polycystic ovaries-urethral sphincter dysfunction syndrome skos:exactMatch MEDGEN:419813 semapv:UnspecifiedMatching MONDO:0017200 polycystic ovaries-urethral sphincter dysfunction syndrome skos:exactMatch Orphanet:2795 Fowler urethral sphincter dysfunction syndrome semapv:UnspecifiedMatching MONDO:0017200 polycystic ovaries-urethral sphincter dysfunction syndrome skos:exactMatch UMLS:C2931462 semapv:UnspecifiedMatching MONDO:0017200 polycystic ovaries-urethral sphincter dysfunction syndrome skos:exactMatch mesh:C537271 semapv:UnspecifiedMatching MONDO:0017201 Spasmus nutans skos:exactMatch MEDGEN:154280 semapv:UnspecifiedMatching MONDO:0017201 Spasmus nutans skos:exactMatch Orphanet:279882 Spasmus nutans semapv:UnspecifiedMatching MONDO:0017201 Spasmus nutans skos:exactMatch SCTID:400948003 semapv:UnspecifiedMatching MONDO:0017201 Spasmus nutans skos:exactMatch UMLS:C0546878 semapv:UnspecifiedMatching MONDO:0017201 Spasmus nutans skos:exactMatch icd11.foundation:1868433558 Spasmus nutans semapv:UnspecifiedMatching MONDO:0017202 acute endophthalmitis skos:exactMatch DOID:11752 acute endophthalmitis semapv:UnspecifiedMatching MONDO:0017202 acute endophthalmitis skos:exactMatch MEDGEN:509652 semapv:UnspecifiedMatching MONDO:0017202 acute endophthalmitis skos:exactMatch Orphanet:279888 Acute endophthalmitis semapv:UnspecifiedMatching MONDO:0017202 acute endophthalmitis skos:exactMatch SCTID:1493002 semapv:UnspecifiedMatching MONDO:0017202 acute endophthalmitis skos:exactMatch UMLS:C0154773 semapv:UnspecifiedMatching MONDO:0017203 chronic endophthalmitis skos:exactMatch DOID:10697 chronic endophthalmitis semapv:UnspecifiedMatching MONDO:0017203 chronic endophthalmitis skos:exactMatch MEDGEN:509653 semapv:UnspecifiedMatching MONDO:0017203 chronic endophthalmitis skos:exactMatch Orphanet:279891 Chronic endophthalmitis semapv:UnspecifiedMatching MONDO:0017203 chronic endophthalmitis skos:exactMatch SCTID:13978000 semapv:UnspecifiedMatching MONDO:0017203 chronic endophthalmitis skos:exactMatch UMLS:C0154774 semapv:UnspecifiedMatching MONDO:0017204 toxic maculopathy due to antimalarial drugs skos:exactMatch MEDGEN:1636117 semapv:UnspecifiedMatching MONDO:0017204 toxic maculopathy due to antimalarial drugs skos:exactMatch Orphanet:279894 Toxic maculopathy due to antimalarial drugs semapv:UnspecifiedMatching MONDO:0017204 toxic maculopathy due to antimalarial drugs skos:exactMatch SCTID:763621004 semapv:UnspecifiedMatching MONDO:0017204 toxic maculopathy due to antimalarial drugs skos:exactMatch UMLS:C4706522 semapv:UnspecifiedMatching MONDO:0017205 primary oculocerebral lymphoma skos:exactMatch MEDGEN:1814439 semapv:UnspecifiedMatching MONDO:0017205 primary oculocerebral lymphoma skos:exactMatch Orphanet:279897 Primary oculocerebral lymphoma semapv:UnspecifiedMatching MONDO:0017205 primary oculocerebral lymphoma skos:exactMatch UMLS:C5679779 semapv:UnspecifiedMatching MONDO:0017205 primary oculocerebral lymphoma skos:exactMatch icd11.foundation:446504143 Primary oculocerebral lymphoma semapv:UnspecifiedMatching MONDO:0017207 primary organ-specific lymphoma skos:exactMatch MEDGEN:1826175 semapv:UnspecifiedMatching MONDO:0017207 primary organ-specific lymphoma skos:exactMatch NCIT:C7185 Lymphoma by Site semapv:UnspecifiedMatching MONDO:0017207 primary organ-specific lymphoma skos:exactMatch Orphanet:279911 Primary organ-specific lymphoma semapv:UnspecifiedMatching MONDO:0017207 primary organ-specific lymphoma skos:exactMatch UMLS:C5680788 semapv:UnspecifiedMatching MONDO:0017209 infectious posterior uveitis skos:exactMatch MEDGEN:1701702 semapv:UnspecifiedMatching MONDO:0017209 infectious posterior uveitis skos:exactMatch Orphanet:279919 Infectious posterior uveitis semapv:UnspecifiedMatching MONDO:0017209 infectious posterior uveitis skos:exactMatch UMLS:C5230265 semapv:UnspecifiedMatching MONDO:0017209 infectious posterior uveitis skos:exactMatch icd11.foundation:1722408748 Infectious posterior uveitis semapv:UnspecifiedMatching MONDO:0017210 infectious anterior uveitis skos:exactMatch DOID:9389 infectious anterior uveitis semapv:UnspecifiedMatching MONDO:0017210 infectious anterior uveitis skos:exactMatch MEDGEN:509716 semapv:UnspecifiedMatching MONDO:0017210 infectious anterior uveitis skos:exactMatch Orphanet:279922 Infectious anterior uveitis semapv:UnspecifiedMatching MONDO:0017210 infectious anterior uveitis skos:exactMatch SCTID:193487008 semapv:UnspecifiedMatching MONDO:0017210 infectious anterior uveitis skos:exactMatch UMLS:C0154911 semapv:UnspecifiedMatching MONDO:0017211 infectious panuveitis skos:exactMatch MEDGEN:1684863 semapv:UnspecifiedMatching MONDO:0017211 infectious panuveitis skos:exactMatch Orphanet:279925 Infectious panuveitis semapv:UnspecifiedMatching MONDO:0017211 infectious panuveitis skos:exactMatch UMLS:C5230354 semapv:UnspecifiedMatching MONDO:0017211 infectious panuveitis skos:exactMatch icd11.foundation:1709165622 Infectious panuveitis semapv:UnspecifiedMatching MONDO:0017212 paraneoplastic uveitis skos:exactMatch MEDGEN:1830109 semapv:UnspecifiedMatching MONDO:0017212 paraneoplastic uveitis skos:exactMatch Orphanet:279928 Paraneoplastic uveitis semapv:UnspecifiedMatching MONDO:0017212 paraneoplastic uveitis skos:exactMatch UMLS:C5680786 semapv:UnspecifiedMatching MONDO:0017213 postorgasmic illness syndrome skos:exactMatch MEDGEN:1663577 semapv:UnspecifiedMatching MONDO:0017213 postorgasmic illness syndrome skos:exactMatch Orphanet:279947 Postorgasmic illness syndrome semapv:UnspecifiedMatching MONDO:0017213 postorgasmic illness syndrome skos:exactMatch UMLS:C4749582 semapv:UnspecifiedMatching MONDO:0017213 postorgasmic illness syndrome skos:exactMatch icd11.foundation:1094271130 Postorgasmic illness syndrome semapv:UnspecifiedMatching MONDO:0017214 vitamin B12-responsive methylmalonic acidemia skos:exactMatch MEDGEN:575193 semapv:UnspecifiedMatching MONDO:0017214 vitamin B12-responsive methylmalonic acidemia skos:exactMatch Orphanet:28 Vitamin B12-responsive methylmalonic acidemia semapv:UnspecifiedMatching MONDO:0017214 vitamin B12-responsive methylmalonic acidemia skos:exactMatch SCTID:69614003 semapv:UnspecifiedMatching MONDO:0017214 vitamin B12-responsive methylmalonic acidemia skos:exactMatch UMLS:C0342720 semapv:UnspecifiedMatching MONDO:0017215 calciphylaxis skos:exactMatch DOID:4734 calciphylaxis semapv:UnspecifiedMatching MONDO:0017215 calciphylaxis skos:exactMatch MEDGEN:2404 semapv:UnspecifiedMatching MONDO:0017215 calciphylaxis skos:exactMatch NCIT:C84607 Calciphylaxis semapv:UnspecifiedMatching MONDO:0017215 calciphylaxis skos:exactMatch Orphanet:280062 Calciphylaxis semapv:UnspecifiedMatching MONDO:0017215 calciphylaxis skos:exactMatch SCTID:237900002 semapv:UnspecifiedMatching MONDO:0017215 calciphylaxis skos:exactMatch UMLS:C0006666 semapv:UnspecifiedMatching MONDO:0017215 calciphylaxis skos:exactMatch icd11.foundation:574291789 Calcific arteriolopathy semapv:UnspecifiedMatching MONDO:0017215 calciphylaxis skos:exactMatch mesh:D002115 semapv:UnspecifiedMatching MONDO:0017216 calciphylaxis cutis skos:exactMatch MEDGEN:900547 semapv:UnspecifiedMatching MONDO:0017216 calciphylaxis cutis skos:exactMatch Orphanet:280065 Calciphylaxis cutis semapv:UnspecifiedMatching MONDO:0017216 calciphylaxis cutis skos:exactMatch SCTID:717043006 semapv:UnspecifiedMatching MONDO:0017216 calciphylaxis cutis skos:exactMatch UMLS:C4274083 semapv:UnspecifiedMatching MONDO:0017217 visceral calciphylaxis skos:exactMatch MEDGEN:1664968 semapv:UnspecifiedMatching MONDO:0017217 visceral calciphylaxis skos:exactMatch Orphanet:280068 Visceral calciphylaxis semapv:UnspecifiedMatching MONDO:0017217 visceral calciphylaxis skos:exactMatch UMLS:C4749793 semapv:UnspecifiedMatching MONDO:0017218 obsolete septopreoptic holoprosencephaly skos:exactMatch Orphanet:280195 Septopreoptic holoprosencephaly semapv:UnspecifiedMatching MONDO:0017219 microform holoprosencephaly skos:exactMatch DOID:0111380 solitary median maxillary central incisor semapv:UnspecifiedMatching MONDO:0017219 microform holoprosencephaly skos:exactMatch MEDGEN:1711978 semapv:UnspecifiedMatching MONDO:0017219 microform holoprosencephaly skos:exactMatch Orphanet:280200 Microform holoprosencephaly semapv:UnspecifiedMatching MONDO:0017219 microform holoprosencephaly skos:exactMatch UMLS:C5393309 semapv:UnspecifiedMatching MONDO:0017219 microform holoprosencephaly skos:exactMatch icd11.foundation:44293173 Microform holoprosencephaly semapv:UnspecifiedMatching MONDO:0017220 laryngotracheoesophageal cleft type 0 skos:exactMatch MEDGEN:1760178 semapv:UnspecifiedMatching MONDO:0017220 laryngotracheoesophageal cleft type 0 skos:exactMatch Orphanet:280205 Laryngotracheoesophageal cleft type 0 semapv:UnspecifiedMatching MONDO:0017220 laryngotracheoesophageal cleft type 0 skos:exactMatch UMLS:C5438977 semapv:UnspecifiedMatching MONDO:0017221 Pelizaeus-Merzbacher disease, connatal form skos:exactMatch MEDGEN:1842817 semapv:UnspecifiedMatching MONDO:0017221 Pelizaeus-Merzbacher disease, connatal form skos:exactMatch Orphanet:280210 Pelizaeus-Merzbacher disease, connatal form semapv:UnspecifiedMatching MONDO:0017221 Pelizaeus-Merzbacher disease, connatal form skos:exactMatch UMLS:C5679776 semapv:UnspecifiedMatching MONDO:0017221 Pelizaeus-Merzbacher disease, connatal form skos:exactMatch icd11.foundation:1118374715 Pelizaeus-Merzbacher disease, connatal form semapv:UnspecifiedMatching MONDO:0017222 Pelizaeus-Merzbacher disease, classic form skos:exactMatch MEDGEN:155959 semapv:UnspecifiedMatching MONDO:0017222 Pelizaeus-Merzbacher disease, classic form skos:exactMatch Orphanet:280219 Pelizaeus-Merzbacher disease, classic form semapv:UnspecifiedMatching MONDO:0017222 Pelizaeus-Merzbacher disease, classic form skos:exactMatch SCTID:87607002 semapv:UnspecifiedMatching MONDO:0017222 Pelizaeus-Merzbacher disease, classic form skos:exactMatch UMLS:C0751916 semapv:UnspecifiedMatching MONDO:0017222 Pelizaeus-Merzbacher disease, classic form skos:exactMatch icd11.foundation:1613420896 Pelizaeus-Merzbacher disease, classic form semapv:UnspecifiedMatching MONDO:0017223 Pelizaeus-Merzbacher disease, transitional form skos:exactMatch MEDGEN:199764 semapv:UnspecifiedMatching MONDO:0017223 Pelizaeus-Merzbacher disease, transitional form skos:exactMatch Orphanet:280224 Pelizaeus-Merzbacher disease, transitional form semapv:UnspecifiedMatching MONDO:0017223 Pelizaeus-Merzbacher disease, transitional form skos:exactMatch UMLS:C0751917 semapv:UnspecifiedMatching MONDO:0017223 Pelizaeus-Merzbacher disease, transitional form skos:exactMatch icd11.foundation:1471805474 Pelizaeus-Merzbacher disease, transitional form semapv:UnspecifiedMatching MONDO:0017224 Pelizaeus-Merzbacher disease in female carriers skos:exactMatch MEDGEN:1753109 semapv:UnspecifiedMatching MONDO:0017224 Pelizaeus-Merzbacher disease in female carriers skos:exactMatch Orphanet:280229 Pelizaeus-Merzbacher disease in female carriers semapv:UnspecifiedMatching MONDO:0017224 Pelizaeus-Merzbacher disease in female carriers skos:exactMatch UMLS:C5438815 semapv:UnspecifiedMatching MONDO:0017224 Pelizaeus-Merzbacher disease in female carriers skos:exactMatch icd11.foundation:1751389523 Pelizaeus-Merzbacher disease in female carriers semapv:UnspecifiedMatching MONDO:0017225 null syndrome skos:exactMatch MEDGEN:1740046 semapv:UnspecifiedMatching MONDO:0017225 null syndrome skos:exactMatch Orphanet:280234 Null syndrome semapv:UnspecifiedMatching MONDO:0017225 null syndrome skos:exactMatch UMLS:C5439441 semapv:UnspecifiedMatching MONDO:0017225 null syndrome skos:exactMatch icd11.foundation:1663254692 Null syndrome semapv:UnspecifiedMatching MONDO:0017226 Pelizaeus-Merzbacher-like disease skos:exactMatch MEDGEN:894734 semapv:UnspecifiedMatching MONDO:0017226 Pelizaeus-Merzbacher-like disease skos:exactMatch Orphanet:280270 Pelizaeus-Merzbacher-like disease semapv:UnspecifiedMatching MONDO:0017226 Pelizaeus-Merzbacher-like disease skos:exactMatch SCTID:717042001 semapv:UnspecifiedMatching MONDO:0017226 Pelizaeus-Merzbacher-like disease skos:exactMatch UMLS:C4274084 semapv:UnspecifiedMatching MONDO:0017226 Pelizaeus-Merzbacher-like disease skos:exactMatch icd11.foundation:1101042369 Pelizaeus-Merzbacher-like disease semapv:UnspecifiedMatching MONDO:0017227 autoimmune pancreatitis type 1 skos:exactMatch EFO:1000780 semapv:UnspecifiedMatching MONDO:0017227 autoimmune pancreatitis type 1 skos:exactMatch MEDGEN:927912 semapv:UnspecifiedMatching MONDO:0017227 autoimmune pancreatitis type 1 skos:exactMatch Orphanet:280302 Autoimmune pancreatitis type 1 semapv:UnspecifiedMatching MONDO:0017227 autoimmune pancreatitis type 1 skos:exactMatch SCTID:722872000 semapv:UnspecifiedMatching MONDO:0017227 autoimmune pancreatitis type 1 skos:exactMatch UMLS:C4302243 semapv:UnspecifiedMatching MONDO:0017228 autoimmune pancreatitis type 2 skos:exactMatch MEDGEN:1679984 semapv:UnspecifiedMatching MONDO:0017228 autoimmune pancreatitis type 2 skos:exactMatch Orphanet:280315 Autoimmune pancreatitis type 2 semapv:UnspecifiedMatching MONDO:0017228 autoimmune pancreatitis type 2 skos:exactMatch UMLS:C5197785 semapv:UnspecifiedMatching MONDO:0017229 distal monosomy 12p skos:exactMatch MEDGEN:1648932 semapv:UnspecifiedMatching MONDO:0017229 distal monosomy 12p skos:exactMatch Orphanet:280325 Distal deletion 12p syndrome semapv:UnspecifiedMatching MONDO:0017229 distal monosomy 12p skos:exactMatch UMLS:C4749581 semapv:UnspecifiedMatching MONDO:0017230 autosomal semi-dominant severe lipodystrophic laminopathy skos:exactMatch MEDGEN:1808090 semapv:UnspecifiedMatching MONDO:0017230 autosomal semi-dominant severe lipodystrophic laminopathy skos:exactMatch Orphanet:280365 Autosomal semi-dominant severe lipodystrophic laminopathy semapv:UnspecifiedMatching MONDO:0017230 autosomal semi-dominant severe lipodystrophic laminopathy skos:exactMatch UMLS:C5680783 semapv:UnspecifiedMatching MONDO:0017231 erythropoietic uroporphyria associated with myeloid malignancy skos:exactMatch MEDGEN:1679887 semapv:UnspecifiedMatching MONDO:0017231 erythropoietic uroporphyria associated with myeloid malignancy skos:exactMatch Orphanet:280379 Erythropoietic uroporphyria associated with myeloid malignancy semapv:UnspecifiedMatching MONDO:0017231 erythropoietic uroporphyria associated with myeloid malignancy skos:exactMatch UMLS:C5191004 semapv:UnspecifiedMatching MONDO:0017232 recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome skos:exactMatch MEDGEN:1659846 semapv:UnspecifiedMatching MONDO:0017232 recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome skos:exactMatch Orphanet:280384 Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome semapv:UnspecifiedMatching MONDO:0017232 recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome skos:exactMatch UMLS:C4749580 semapv:UnspecifiedMatching MONDO:0017233 familial Alzheimer-like prion disease skos:exactMatch MEDGEN:929151 semapv:UnspecifiedMatching MONDO:0017233 familial Alzheimer-like prion disease skos:exactMatch Orphanet:280397 Familial Alzheimer-like prion disease semapv:UnspecifiedMatching MONDO:0017233 familial Alzheimer-like prion disease skos:exactMatch SCTID:721219005 semapv:UnspecifiedMatching MONDO:0017233 familial Alzheimer-like prion disease skos:exactMatch UMLS:C4303482 semapv:UnspecifiedMatching MONDO:0017233 familial Alzheimer-like prion disease skos:exactMatch icd11.foundation:1297025427 Familial Alzheimer-like prion disease semapv:UnspecifiedMatching MONDO:0017234 obsolete inherited prion disease skos:exactMatch Orphanet:280400 Inherited human prion disease semapv:UnspecifiedMatching MONDO:0017235 familial omphalocele syndrome with facial dysmorphism skos:exactMatch MEDGEN:1655514 semapv:UnspecifiedMatching MONDO:0017235 familial omphalocele syndrome with facial dysmorphism skos:exactMatch Orphanet:280403 Familial omphalocele syndrome with facial dysmorphism semapv:UnspecifiedMatching MONDO:0017235 familial omphalocele syndrome with facial dysmorphism skos:exactMatch UMLS:C4749579 semapv:UnspecifiedMatching MONDO:0017236 rapidly progressive glomerulonephritis skos:exactMatch DOID:4776 rapidly progressive glomerulonephritis semapv:UnspecifiedMatching MONDO:0017236 rapidly progressive glomerulonephritis skos:exactMatch MEDGEN:113155 semapv:UnspecifiedMatching MONDO:0017236 rapidly progressive glomerulonephritis skos:exactMatch NCIT:C35264 Rapidly Progressive Glomerulonephritis semapv:UnspecifiedMatching MONDO:0017236 rapidly progressive glomerulonephritis skos:exactMatch SCTID:236392004 semapv:UnspecifiedMatching MONDO:0017236 rapidly progressive glomerulonephritis skos:exactMatch UMLS:C0221239 semapv:UnspecifiedMatching MONDO:0017237 hereditary sensorimotor neuropathy with hyperelastic skin skos:exactMatch MEDGEN:1678654 semapv:UnspecifiedMatching MONDO:0017237 hereditary sensorimotor neuropathy with hyperelastic skin skos:exactMatch Orphanet:280598 Hereditary sensorimotor neuropathy with hyperelastic skin semapv:UnspecifiedMatching MONDO:0017237 hereditary sensorimotor neuropathy with hyperelastic skin skos:exactMatch UMLS:C5190690 semapv:UnspecifiedMatching MONDO:0017237 hereditary sensorimotor neuropathy with hyperelastic skin skos:exactMatch icd11.foundation:691133799 Hereditary sensorimotor neuropathy with hyperelastic skin semapv:UnspecifiedMatching MONDO:0017238 hemoglobinopathy Toms River skos:exactMatch MEDGEN:1683555 semapv:UnspecifiedMatching MONDO:0017238 hemoglobinopathy Toms River skos:exactMatch Orphanet:280615 Hemoglobinopathy Toms River semapv:UnspecifiedMatching MONDO:0017238 hemoglobinopathy Toms River skos:exactMatch UMLS:C5190689 semapv:UnspecifiedMatching MONDO:0017239 familial progressive hyper- and hypopigmentation skos:exactMatch MEDGEN:1643385 semapv:UnspecifiedMatching MONDO:0017239 familial progressive hyper- and hypopigmentation skos:exactMatch Orphanet:280628 Familial progressive hyper- and hypopigmentation semapv:UnspecifiedMatching MONDO:0017239 familial progressive hyper- and hypopigmentation skos:exactMatch UMLS:C4706423 semapv:UnspecifiedMatching MONDO:0017239 familial progressive hyper- and hypopigmentation skos:exactMatch icd11.foundation:1229773662 Familial progressive hyper- and hypopigmentation semapv:UnspecifiedMatching MONDO:0017240 obsolete acrodysostosis with multiple hormone resistance skos:exactMatch Orphanet:280651 OBSOLETE: Acrodysostosis with multiple hormone resistance semapv:UnspecifiedMatching MONDO:0017242 cutaneous collagenous vasculopathy skos:exactMatch MEDGEN:930992 semapv:UnspecifiedMatching MONDO:0017242 cutaneous collagenous vasculopathy skos:exactMatch Orphanet:280779 Cutaneous collagenous vasculopathy semapv:UnspecifiedMatching MONDO:0017242 cutaneous collagenous vasculopathy skos:exactMatch SCTID:718634003 semapv:UnspecifiedMatching MONDO:0017242 cutaneous collagenous vasculopathy skos:exactMatch UMLS:C4305323 semapv:UnspecifiedMatching MONDO:0017242 cutaneous collagenous vasculopathy skos:exactMatch icd11.foundation:878108553 Cutaneous collagenous vasculopathy semapv:UnspecifiedMatching MONDO:0017243 bullous diffuse cutaneous mastocytosis skos:exactMatch MEDGEN:1781582 semapv:UnspecifiedMatching MONDO:0017243 bullous diffuse cutaneous mastocytosis skos:exactMatch Orphanet:280785 Bullous diffuse cutaneous mastocytosis semapv:UnspecifiedMatching MONDO:0017243 bullous diffuse cutaneous mastocytosis skos:exactMatch UMLS:C5546764 semapv:UnspecifiedMatching MONDO:0017243 bullous diffuse cutaneous mastocytosis skos:exactMatch icd11.foundation:227748867 Bullous diffuse cutaneous mastocytosis semapv:UnspecifiedMatching MONDO:0017244 pseudoxanthomatous diffuse cutaneous mastocytosis skos:exactMatch MEDGEN:1842453 semapv:UnspecifiedMatching MONDO:0017244 pseudoxanthomatous diffuse cutaneous mastocytosis skos:exactMatch Orphanet:280794 Pseudoxanthomatous diffuse cutaneous mastocytosis semapv:UnspecifiedMatching MONDO:0017244 pseudoxanthomatous diffuse cutaneous mastocytosis skos:exactMatch UMLS:C5679949 semapv:UnspecifiedMatching MONDO:0017245 intralobar congenital pulmonary sequestration skos:exactMatch MEDGEN:1842539 semapv:UnspecifiedMatching MONDO:0017245 intralobar congenital pulmonary sequestration skos:exactMatch Orphanet:280802 Intralobar congenital pulmonary sequestration semapv:UnspecifiedMatching MONDO:0017245 intralobar congenital pulmonary sequestration skos:exactMatch UMLS:C5679950 semapv:UnspecifiedMatching MONDO:0017246 extralobar congenital pulmonary sequestration skos:exactMatch MEDGEN:1843113 semapv:UnspecifiedMatching MONDO:0017246 extralobar congenital pulmonary sequestration skos:exactMatch Orphanet:280811 Extralobar congenital pulmonary sequestration semapv:UnspecifiedMatching MONDO:0017246 extralobar congenital pulmonary sequestration skos:exactMatch UMLS:C5679951 semapv:UnspecifiedMatching MONDO:0017247 communicating congenital bronchopulmonary-foregut malformation skos:exactMatch MEDGEN:539496 semapv:UnspecifiedMatching MONDO:0017247 communicating congenital bronchopulmonary-foregut malformation skos:exactMatch Orphanet:280821 Communicating congenital bronchopulmonary-foregut malformation semapv:UnspecifiedMatching MONDO:0017247 communicating congenital bronchopulmonary-foregut malformation skos:exactMatch UMLS:C0265790 semapv:UnspecifiedMatching MONDO:0017248 congenital pulmonary airway malformation type 0 skos:exactMatch MEDGEN:1776488 semapv:UnspecifiedMatching MONDO:0017248 congenital pulmonary airway malformation type 0 skos:exactMatch Orphanet:280827 Congenital pulmonary airway malformation type 0 semapv:UnspecifiedMatching MONDO:0017248 congenital pulmonary airway malformation type 0 skos:exactMatch UMLS:C5437764 semapv:UnspecifiedMatching MONDO:0017248 congenital pulmonary airway malformation type 0 skos:exactMatch icd11.foundation:1763273166 Congenital pulmonary airway malformation type 0 semapv:UnspecifiedMatching MONDO:0017249 congenital pulmonary airway malformation type 1 skos:exactMatch MEDGEN:1760964 semapv:UnspecifiedMatching MONDO:0017249 congenital pulmonary airway malformation type 1 skos:exactMatch Orphanet:280832 Congenital pulmonary airway malformation type 1 semapv:UnspecifiedMatching MONDO:0017249 congenital pulmonary airway malformation type 1 skos:exactMatch UMLS:C5437763 semapv:UnspecifiedMatching MONDO:0017249 congenital pulmonary airway malformation type 1 skos:exactMatch icd11.foundation:1455719613 Congenital pulmonary airway malformation type 1 semapv:UnspecifiedMatching MONDO:0017250 congenital pulmonary airway malformation type 2 skos:exactMatch MEDGEN:1738105 semapv:UnspecifiedMatching MONDO:0017250 congenital pulmonary airway malformation type 2 skos:exactMatch Orphanet:280840 Congenital pulmonary airway malformation type 2 semapv:UnspecifiedMatching MONDO:0017250 congenital pulmonary airway malformation type 2 skos:exactMatch UMLS:C5437761 semapv:UnspecifiedMatching MONDO:0017250 congenital pulmonary airway malformation type 2 skos:exactMatch icd11.foundation:1921224131 Congenital pulmonary airway malformation type 2 semapv:UnspecifiedMatching MONDO:0017251 congenital pulmonary airway malformation type 3 skos:exactMatch MEDGEN:1741544 semapv:UnspecifiedMatching MONDO:0017251 congenital pulmonary airway malformation type 3 skos:exactMatch Orphanet:280847 Congenital pulmonary airway malformation type 3 semapv:UnspecifiedMatching MONDO:0017251 congenital pulmonary airway malformation type 3 skos:exactMatch UMLS:C5437762 semapv:UnspecifiedMatching MONDO:0017251 congenital pulmonary airway malformation type 3 skos:exactMatch icd11.foundation:1342201768 Congenital pulmonary airway malformation type 3 semapv:UnspecifiedMatching MONDO:0017252 congenital pulmonary airway malformation type 4 skos:exactMatch MEDGEN:1777484 semapv:UnspecifiedMatching MONDO:0017252 congenital pulmonary airway malformation type 4 skos:exactMatch Orphanet:280854 Congenital pulmonary airway malformation type 4 semapv:UnspecifiedMatching MONDO:0017252 congenital pulmonary airway malformation type 4 skos:exactMatch UMLS:C5437760 semapv:UnspecifiedMatching MONDO:0017252 congenital pulmonary airway malformation type 4 skos:exactMatch icd11.foundation:1737719514 Congenital pulmonary airway malformation type 4 semapv:UnspecifiedMatching MONDO:0017255 panuveitis skos:exactMatch DOID:12030 panuveitis semapv:UnspecifiedMatching MONDO:0017255 panuveitis skos:exactMatch EFO:1001082 semapv:UnspecifiedMatching MONDO:0017255 panuveitis skos:exactMatch ICD10CM:H44.11 Panuveitis semapv:UnspecifiedMatching MONDO:0017255 panuveitis skos:exactMatch MEDGEN:45303 semapv:UnspecifiedMatching MONDO:0017255 panuveitis skos:exactMatch NCIT:C84989 Panuveitis semapv:UnspecifiedMatching MONDO:0017255 panuveitis skos:exactMatch Orphanet:280898 Panuveitis semapv:UnspecifiedMatching MONDO:0017255 panuveitis skos:exactMatch SCTID:75614007 semapv:UnspecifiedMatching MONDO:0017255 panuveitis skos:exactMatch UMLS:C0030343 semapv:UnspecifiedMatching MONDO:0017255 panuveitis skos:exactMatch icd11.foundation:1125547814 Panuveitis semapv:UnspecifiedMatching MONDO:0017255 panuveitis skos:exactMatch mesh:D015864 semapv:UnspecifiedMatching MONDO:0017256 idiopathic anterior uveitis skos:exactMatch MEDGEN:573079 semapv:UnspecifiedMatching MONDO:0017256 idiopathic anterior uveitis skos:exactMatch Orphanet:280914 Isolated idiopathic anterior uveitis semapv:UnspecifiedMatching MONDO:0017256 idiopathic anterior uveitis skos:exactMatch SCTID:231947004 semapv:UnspecifiedMatching MONDO:0017256 idiopathic anterior uveitis skos:exactMatch UMLS:C0339315 semapv:UnspecifiedMatching MONDO:0017257 idiopathic posterior uveitis skos:exactMatch MEDGEN:1657160 semapv:UnspecifiedMatching MONDO:0017257 idiopathic posterior uveitis skos:exactMatch Orphanet:280917 Idiopathic posterior uveitis semapv:UnspecifiedMatching MONDO:0017257 idiopathic posterior uveitis skos:exactMatch UMLS:C4751435 semapv:UnspecifiedMatching MONDO:0017258 idiopathic panuveitis skos:exactMatch MEDGEN:1633708 semapv:UnspecifiedMatching MONDO:0017258 idiopathic panuveitis skos:exactMatch Orphanet:280921 Idiopathic panuveitis semapv:UnspecifiedMatching MONDO:0017258 idiopathic panuveitis skos:exactMatch SCTID:766933000 semapv:UnspecifiedMatching MONDO:0017258 idiopathic panuveitis skos:exactMatch UMLS:C4707884 semapv:UnspecifiedMatching MONDO:0017259 obsolete systemic diseases with anterior uveitis skos:exactMatch Orphanet:280926 Systemic diseases with anterior uveitis semapv:UnspecifiedMatching MONDO:0017260 obsolete systemic diseases with posterior uveitis skos:exactMatch Orphanet:280930 Systemic diseases with posterior uveitis semapv:UnspecifiedMatching MONDO:0017261 obsolete systemic diseases with panuveitis skos:exactMatch Orphanet:280933 Systemic diseases with panuveitis semapv:UnspecifiedMatching MONDO:0017262 obsolete inherited non-syndromic ichthyosis skos:exactMatch Orphanet:281082 Inherited non-syndromic ichthyosis semapv:UnspecifiedMatching MONDO:0017262 obsolete inherited non-syndromic ichthyosis skos:exactMatch icd11.foundation:213831678 Non-syndromic ichthyosis semapv:UnspecifiedMatching MONDO:0017263 obsolete inherited ichthyosis syndromic form skos:exactMatch Orphanet:281085 Inherited ichthyosis syndromic form semapv:UnspecifiedMatching MONDO:0017263 obsolete inherited ichthyosis syndromic form skos:exactMatch icd11.foundation:488102959 Syndromic ichthyosis semapv:UnspecifiedMatching MONDO:0017264 syndromic recessive X-linked ichthyosis skos:exactMatch MEDGEN:904038 semapv:UnspecifiedMatching MONDO:0017264 syndromic recessive X-linked ichthyosis skos:exactMatch Orphanet:281090 Syndromic recessive X-linked ichthyosis semapv:UnspecifiedMatching MONDO:0017264 syndromic recessive X-linked ichthyosis skos:exactMatch SCTID:717041008 semapv:UnspecifiedMatching MONDO:0017264 syndromic recessive X-linked ichthyosis skos:exactMatch UMLS:C4274085 semapv:UnspecifiedMatching MONDO:0017265 autosomal recessive congenital ichthyosis skos:exactMatch DOID:0060655 autosomal recessive congenital ichthyosis semapv:UnspecifiedMatching MONDO:0017265 autosomal recessive congenital ichthyosis skos:exactMatch MEDGEN:697564 semapv:UnspecifiedMatching MONDO:0017265 autosomal recessive congenital ichthyosis skos:exactMatch OMIMPS:242300 Ichthyosis, congenital, autosomal recessive semapv:UnspecifiedMatching MONDO:0017265 autosomal recessive congenital ichthyosis skos:exactMatch Orphanet:281097 Autosomal recessive congenital ichthyosis semapv:UnspecifiedMatching MONDO:0017265 autosomal recessive congenital ichthyosis skos:exactMatch UMLS:C1274215 semapv:UnspecifiedMatching MONDO:0017265 autosomal recessive congenital ichthyosis skos:exactMatch icd11.foundation:430849255 Autosomal recessive congenital ichthyosis semapv:UnspecifiedMatching MONDO:0017266 keratinopathic ichthyosis skos:exactMatch MEDGEN:1393111 semapv:UnspecifiedMatching MONDO:0017266 keratinopathic ichthyosis skos:exactMatch Orphanet:281103 Keratinopathic ichthyosis semapv:UnspecifiedMatching MONDO:0017266 keratinopathic ichthyosis skos:exactMatch SCTID:724837004 semapv:UnspecifiedMatching MONDO:0017266 keratinopathic ichthyosis skos:exactMatch UMLS:C4511307 semapv:UnspecifiedMatching MONDO:0017266 keratinopathic ichthyosis skos:exactMatch icd11.foundation:992865924 Keratinopathic ichthyoses semapv:UnspecifiedMatching MONDO:0017267 self-healing collodion baby skos:exactMatch MEDGEN:383772 semapv:UnspecifiedMatching MONDO:0017267 self-healing collodion baby skos:exactMatch Orphanet:281122 Self-improving collodion baby semapv:UnspecifiedMatching MONDO:0017267 self-healing collodion baby skos:exactMatch SCTID:718632004 semapv:UnspecifiedMatching MONDO:0017267 self-healing collodion baby skos:exactMatch UMLS:C1855789 semapv:UnspecifiedMatching MONDO:0017267 self-healing collodion baby skos:exactMatch icd11.foundation:34721911 Self-healing collodion baby semapv:UnspecifiedMatching MONDO:0017267 self-healing collodion baby skos:exactMatch mesh:C565473 semapv:UnspecifiedMatching MONDO:0017268 acral self-healing collodion baby skos:exactMatch MEDGEN:930993 semapv:UnspecifiedMatching MONDO:0017268 acral self-healing collodion baby skos:exactMatch Orphanet:281127 Acral self-healing collodion baby semapv:UnspecifiedMatching MONDO:0017268 acral self-healing collodion baby skos:exactMatch SCTID:718633009 semapv:UnspecifiedMatching MONDO:0017268 acral self-healing collodion baby skos:exactMatch UMLS:C4305324 semapv:UnspecifiedMatching MONDO:0017268 acral self-healing collodion baby skos:exactMatch icd11.foundation:897773833 Acral self-healing collodion baby semapv:UnspecifiedMatching MONDO:0017269 X-linked ichthyosis syndrome skos:exactMatch Orphanet:281210 X-linked ichthyosis syndrome semapv:UnspecifiedMatching MONDO:0017270 obsolete autosomal ichthyosis syndrome skos:exactMatch Orphanet:281217 Autosomal ichthyosis syndrome semapv:UnspecifiedMatching MONDO:0017271 obsolete autosomal ichthyosis syndrome with prominent hair abnormalities skos:exactMatch Orphanet:281222 Autosomal ichthyosis syndrome with prominent hair abnormalities semapv:UnspecifiedMatching MONDO:0017272 obsolete autosomal ichthyosis syndrome with prominent neurologics signs skos:exactMatch Orphanet:281238 Autosomal ichthyosis syndrome with prominent neurologic signs semapv:UnspecifiedMatching MONDO:0017273 obsolete autosomal ichthyosis syndrome with fatal disease course skos:exactMatch Orphanet:281241 Autosomal ichthyosis syndrome with fatal disease course semapv:UnspecifiedMatching MONDO:0017275 spastic paraplegia-facial-cutaneous lesions syndrome skos:exactMatch MEDGEN:419453 semapv:UnspecifiedMatching MONDO:0017275 spastic paraplegia-facial-cutaneous lesions syndrome skos:exactMatch Orphanet:2819 Spastic paraplegia-facial-cutaneous lesions syndrome semapv:UnspecifiedMatching MONDO:0017275 spastic paraplegia-facial-cutaneous lesions syndrome skos:exactMatch SCTID:763403007 semapv:UnspecifiedMatching MONDO:0017275 spastic paraplegia-facial-cutaneous lesions syndrome skos:exactMatch UMLS:C2931617 semapv:UnspecifiedMatching MONDO:0017275 spastic paraplegia-facial-cutaneous lesions syndrome skos:exactMatch mesh:C537797 semapv:UnspecifiedMatching MONDO:0017276 frontotemporal dementia skos:exactMatch DOID:9255 frontotemporal dementia semapv:UnspecifiedMatching MONDO:0017276 frontotemporal dementia skos:exactMatch ICD10CM:G31.0 Frontotemporal dementia semapv:UnspecifiedMatching MONDO:0017276 frontotemporal dementia skos:exactMatch MEDGEN:83266 semapv:UnspecifiedMatching MONDO:0017276 frontotemporal dementia skos:exactMatch NCIT:C84719 Frontotemporal Dementia semapv:UnspecifiedMatching MONDO:0017276 frontotemporal dementia skos:exactMatch Orphanet:282 Frontotemporal dementia semapv:UnspecifiedMatching MONDO:0017276 frontotemporal dementia skos:exactMatch UMLS:C0338451 semapv:UnspecifiedMatching MONDO:0017276 frontotemporal dementia skos:exactMatch icd11.foundation:831337417 Frontotemporal dementia semapv:UnspecifiedMatching MONDO:0017276 frontotemporal dementia skos:exactMatch mesh:D057180 semapv:UnspecifiedMatching MONDO:0017277 partial deletion of chromosome 12 skos:exactMatch MEDGEN:1826080 semapv:UnspecifiedMatching MONDO:0017277 partial deletion of chromosome 12 skos:exactMatch Orphanet:282124 Partial deletion of chromosome 12 syndrome semapv:UnspecifiedMatching MONDO:0017277 partial deletion of chromosome 12 skos:exactMatch UMLS:C5680422 semapv:UnspecifiedMatching MONDO:0017278 autoimmune polyendocrinopathy skos:exactMatch DOID:14040 autoimmune polyendocrine syndrome semapv:UnspecifiedMatching MONDO:0017278 autoimmune polyendocrinopathy skos:exactMatch ICD10CM:E31.0 Autoimmune polyglandular failure semapv:UnspecifiedMatching MONDO:0017278 autoimmune polyendocrinopathy skos:exactMatch MEDGEN:39042 semapv:UnspecifiedMatching MONDO:0017278 autoimmune polyendocrinopathy skos:exactMatch NCIT:C129726 Autoimmune Polyglandular Syndrome semapv:UnspecifiedMatching MONDO:0017278 autoimmune polyendocrinopathy skos:exactMatch NCIT:C84576 Autoimmune Polyendocrinopathy Syndrome semapv:UnspecifiedMatching MONDO:0017278 autoimmune polyendocrinopathy skos:exactMatch Orphanet:282196 Autoimmune polyendocrinopathy semapv:UnspecifiedMatching MONDO:0017278 autoimmune polyendocrinopathy skos:exactMatch SCTID:41864002 semapv:UnspecifiedMatching MONDO:0017278 autoimmune polyendocrinopathy skos:exactMatch UMLS:C0085409 semapv:UnspecifiedMatching MONDO:0017278 autoimmune polyendocrinopathy skos:exactMatch icd11.foundation:548357900 Autoimmune polyendocrinopathy semapv:UnspecifiedMatching MONDO:0017279 young-onset Parkinson disease skos:exactMatch DOID:0060894 early-onset Parkinson's disease semapv:UnspecifiedMatching MONDO:0017279 young-onset Parkinson disease skos:exactMatch MEDGEN:907947 semapv:UnspecifiedMatching MONDO:0017279 young-onset Parkinson disease skos:exactMatch Orphanet:2828 Young-onset Parkinson disease semapv:UnspecifiedMatching MONDO:0017279 young-onset Parkinson disease skos:exactMatch SCTID:715345007 semapv:UnspecifiedMatching MONDO:0017279 young-onset Parkinson disease skos:exactMatch UMLS:C4275179 semapv:UnspecifiedMatching MONDO:0017280 demodicidosis skos:exactMatch MEDGEN:581217 semapv:UnspecifiedMatching MONDO:0017280 demodicidosis skos:exactMatch Orphanet:283 Demodicidosis semapv:UnspecifiedMatching MONDO:0017280 demodicidosis skos:exactMatch UMLS:C0392666 semapv:UnspecifiedMatching MONDO:0017280 demodicidosis skos:exactMatch icd11.foundation:1473144548 Infestation by Demodex semapv:UnspecifiedMatching MONDO:0017281 renal caliceal diverticuli-deafness syndrome skos:exactMatch MEDGEN:1676118 semapv:UnspecifiedMatching MONDO:0017281 renal caliceal diverticuli-deafness syndrome skos:exactMatch Orphanet:2838 Renal caliceal diverticuli-deafness syndrome semapv:UnspecifiedMatching MONDO:0017281 renal caliceal diverticuli-deafness syndrome skos:exactMatch UMLS:C5190738 semapv:UnspecifiedMatching MONDO:0017282 alveolar echinococcosis skos:exactMatch DOID:12148 alveolar echinococcosis semapv:UnspecifiedMatching MONDO:0017282 alveolar echinococcosis skos:exactMatch MEDGEN:508867 semapv:UnspecifiedMatching MONDO:0017282 alveolar echinococcosis skos:exactMatch Orphanet:284 Alveolar echinococcosis semapv:UnspecifiedMatching MONDO:0017282 alveolar echinococcosis skos:exactMatch SCTID:21009004 semapv:UnspecifiedMatching MONDO:0017282 alveolar echinococcosis skos:exactMatch UMLS:C0152069 semapv:UnspecifiedMatching MONDO:0017282 alveolar echinococcosis skos:exactMatch icd11.foundation:1407575161 Alveolar echinococcosis semapv:UnspecifiedMatching MONDO:0017282 alveolar echinococcosis skos:exactMatch mesh:C536591 semapv:UnspecifiedMatching MONDO:0017283 DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion skos:exactMatch MEDGEN:1681325 semapv:UnspecifiedMatching MONDO:0017283 DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion skos:exactMatch Orphanet:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion semapv:UnspecifiedMatching MONDO:0017283 DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion skos:exactMatch UMLS:C5190804 semapv:UnspecifiedMatching MONDO:0017284 Xp22.13p22.2 duplication syndrome skos:exactMatch MEDGEN:1684472 semapv:UnspecifiedMatching MONDO:0017284 Xp22.13p22.2 duplication syndrome skos:exactMatch Orphanet:284180 Xp22.13p22.2 duplication syndrome semapv:UnspecifiedMatching MONDO:0017284 Xp22.13p22.2 duplication syndrome skos:exactMatch UMLS:C5190686 semapv:UnspecifiedMatching MONDO:0017285 penoscrotal transposition skos:exactMatch MEDGEN:357036 semapv:UnspecifiedMatching MONDO:0017285 penoscrotal transposition skos:exactMatch NCIT:C99010 Penoscrotal Transposition semapv:UnspecifiedMatching MONDO:0017285 penoscrotal transposition skos:exactMatch Orphanet:2842 Penoscrotal transposition semapv:UnspecifiedMatching MONDO:0017285 penoscrotal transposition skos:exactMatch SCTID:312005008 semapv:UnspecifiedMatching MONDO:0017285 penoscrotal transposition skos:exactMatch UMLS:C1868854 semapv:UnspecifiedMatching MONDO:0017285 penoscrotal transposition skos:exactMatch icd11.foundation:1417779551 Penoscrotal transposition semapv:UnspecifiedMatching MONDO:0017285 penoscrotal transposition skos:exactMatch mesh:C536650 semapv:UnspecifiedMatching MONDO:0017286 tempi syndrome skos:exactMatch MEDGEN:886502 semapv:UnspecifiedMatching MONDO:0017286 tempi syndrome skos:exactMatch NCIT:C121656 TEMPI Syndrome semapv:UnspecifiedMatching MONDO:0017286 tempi syndrome skos:exactMatch Orphanet:284227 TEMPI syndrome semapv:UnspecifiedMatching MONDO:0017286 tempi syndrome skos:exactMatch SCTID:718614004 semapv:UnspecifiedMatching MONDO:0017286 tempi syndrome skos:exactMatch UMLS:C3854394 semapv:UnspecifiedMatching MONDO:0017287 immunoglobulin G4-related sclerosing disease skos:exactMatch DOID:0080356 IgG4-related disease semapv:UnspecifiedMatching MONDO:0017287 immunoglobulin G4-related sclerosing disease skos:exactMatch MEDGEN:473761 semapv:UnspecifiedMatching MONDO:0017287 immunoglobulin G4-related sclerosing disease skos:exactMatch NCIT:C95992 IgG4-Related Disease semapv:UnspecifiedMatching MONDO:0017287 immunoglobulin G4-related sclerosing disease skos:exactMatch Orphanet:284264 IgG4-related disease semapv:UnspecifiedMatching MONDO:0017287 immunoglobulin G4-related sclerosing disease skos:exactMatch Orphanet:596448 IgG4-related systemic disease semapv:UnspecifiedMatching MONDO:0017287 immunoglobulin G4-related sclerosing disease skos:exactMatch UMLS:C3203653 semapv:UnspecifiedMatching MONDO:0017287 immunoglobulin G4-related sclerosing disease skos:exactMatch icd11.foundation:99883782 IgG4 related disease semapv:UnspecifiedMatching MONDO:0017288 obsolete DICER1 syndrome skos:exactMatch EFO:0009068 semapv:UnspecifiedMatching MONDO:0017289 fetal lung interstitial tumor skos:exactMatch MEDGEN:1830091 semapv:UnspecifiedMatching MONDO:0017289 fetal lung interstitial tumor skos:exactMatch NCIT:C190105 Fetal Lung Interstitial Tumor semapv:UnspecifiedMatching MONDO:0017289 fetal lung interstitial tumor skos:exactMatch Orphanet:284362 Fetal lung interstitial tumor semapv:UnspecifiedMatching MONDO:0017289 fetal lung interstitial tumor skos:exactMatch UMLS:C5679952 semapv:UnspecifiedMatching MONDO:0017290 familial intrahepatic cholestasis skos:exactMatch Orphanet:284385 Familial intrahepatic cholestasis semapv:UnspecifiedMatching MONDO:0017290 familial intrahepatic cholestasis skos:exactMatch SCTID:74162007 semapv:UnspecifiedMatching MONDO:0017291 reversible cerebral vasoconstriction syndrome skos:exactMatch MEDGEN:811291 semapv:UnspecifiedMatching MONDO:0017291 reversible cerebral vasoconstriction syndrome skos:exactMatch Orphanet:284388 Reversible cerebral vasoconstriction syndrome semapv:UnspecifiedMatching MONDO:0017291 reversible cerebral vasoconstriction syndrome skos:exactMatch SCTID:700467001 semapv:UnspecifiedMatching MONDO:0017291 reversible cerebral vasoconstriction syndrome skos:exactMatch UMLS:C3544214 semapv:UnspecifiedMatching MONDO:0017291 reversible cerebral vasoconstriction syndrome skos:exactMatch icd11.foundation:1474881372 Reversible cerebral vasoconstriction syndrome semapv:UnspecifiedMatching MONDO:0017292 well-differentiated fetal adenocarcinoma of the lung skos:exactMatch MEDGEN:843585 semapv:UnspecifiedMatching MONDO:0017292 well-differentiated fetal adenocarcinoma of the lung skos:exactMatch NCIT:C45509 Lung Fetal Adenocarcinoma semapv:UnspecifiedMatching MONDO:0017292 well-differentiated fetal adenocarcinoma of the lung skos:exactMatch Orphanet:284395 Well-differentiated fetal adenocarcinoma of the lung semapv:UnspecifiedMatching MONDO:0017292 well-differentiated fetal adenocarcinoma of the lung skos:exactMatch UMLS:C3873372 semapv:UnspecifiedMatching MONDO:0017295 glycerol kinase deficiency, juvenile form skos:exactMatch MEDGEN:1842281 semapv:UnspecifiedMatching MONDO:0017295 glycerol kinase deficiency, juvenile form skos:exactMatch Orphanet:284411 Glycerol kinase deficiency, juvenile form semapv:UnspecifiedMatching MONDO:0017295 glycerol kinase deficiency, juvenile form skos:exactMatch UMLS:C5681029 semapv:UnspecifiedMatching MONDO:0017296 glycerol kinase deficiency, adult form skos:exactMatch MEDGEN:1842796 semapv:UnspecifiedMatching MONDO:0017296 glycerol kinase deficiency, adult form skos:exactMatch Orphanet:284414 Glycerol kinase deficiency, adult form semapv:UnspecifiedMatching MONDO:0017296 glycerol kinase deficiency, adult form skos:exactMatch UMLS:C5681013 semapv:UnspecifiedMatching MONDO:0017297 chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids skos:exactMatch MEDGEN:1433964 semapv:UnspecifiedMatching MONDO:0017297 chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids skos:exactMatch Orphanet:284448 CLIPPERS semapv:UnspecifiedMatching MONDO:0017297 chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids skos:exactMatch UMLS:C3854437 semapv:UnspecifiedMatching MONDO:0017297 chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids skos:exactMatch icd11.foundation:913443626 Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids semapv:UnspecifiedMatching MONDO:0017298 acute zonal occult outer retinopathy skos:exactMatch MEDGEN:196452 semapv:UnspecifiedMatching MONDO:0017298 acute zonal occult outer retinopathy skos:exactMatch Orphanet:284454 Acute zonal occult outer retinopathy semapv:UnspecifiedMatching MONDO:0017298 acute zonal occult outer retinopathy skos:exactMatch SCTID:312929003 semapv:UnspecifiedMatching MONDO:0017298 acute zonal occult outer retinopathy skos:exactMatch UMLS:C0730298 semapv:UnspecifiedMatching MONDO:0017298 acute zonal occult outer retinopathy skos:exactMatch icd11.foundation:2011657601 Acute zonal occult outer retinopathy semapv:UnspecifiedMatching MONDO:0017298 acute zonal occult outer retinopathy skos:exactMatch mesh:C538223 semapv:UnspecifiedMatching MONDO:0017299 acute annular outer retinopathy skos:exactMatch MEDGEN:1684428 semapv:UnspecifiedMatching MONDO:0017299 acute annular outer retinopathy skos:exactMatch Orphanet:284460 Acute annular outer retinopathy semapv:UnspecifiedMatching MONDO:0017299 acute annular outer retinopathy skos:exactMatch UMLS:C5191002 semapv:UnspecifiedMatching MONDO:0017300 congenital pericardium anomaly skos:exactMatch MEDGEN:672640 semapv:UnspecifiedMatching MONDO:0017300 congenital pericardium anomaly skos:exactMatch Orphanet:2846 Congenital pericardium anomaly semapv:UnspecifiedMatching MONDO:0017300 congenital pericardium anomaly skos:exactMatch SCTID:93018000 semapv:UnspecifiedMatching MONDO:0017300 congenital pericardium anomaly skos:exactMatch UMLS:C0685699 semapv:UnspecifiedMatching MONDO:0017300 congenital pericardium anomaly skos:exactMatch icd11.foundation:1188459532 Congenital pericardial anomaly semapv:UnspecifiedMatching MONDO:0017301 pericardial and diaphragmatic defect skos:exactMatch MEDGEN:1373904 semapv:UnspecifiedMatching MONDO:0017301 pericardial and diaphragmatic defect skos:exactMatch Orphanet:2847 Pericardial and diaphragmatic defect semapv:UnspecifiedMatching MONDO:0017301 pericardial and diaphragmatic defect skos:exactMatch UMLS:C4510305 semapv:UnspecifiedMatching MONDO:0017302 obsolete qualitative or quantitative defects of troponin skos:exactMatch Orphanet:284786 Qualitative or quantitative defects of troponin semapv:UnspecifiedMatching MONDO:0017303 neuromuscular disease caused by qualitative or quantitative defects of tropomyosin skos:exactMatch MEDGEN:1842978 semapv:UnspecifiedMatching MONDO:0017303 neuromuscular disease caused by qualitative or quantitative defects of tropomyosin skos:exactMatch Orphanet:284790 Qualitative or quantitative defects of tropomyosin semapv:UnspecifiedMatching MONDO:0017303 neuromuscular disease caused by qualitative or quantitative defects of tropomyosin skos:exactMatch UMLS:C5681012 semapv:UnspecifiedMatching MONDO:0017304 ocular albinism skos:exactMatch DOID:0050633 ocular albinism 1 semapv:UnspecifiedMatching MONDO:0017304 ocular albinism skos:exactMatch ICD10CM:E70.31 Ocular albinism semapv:UnspecifiedMatching MONDO:0017304 ocular albinism skos:exactMatch MEDGEN:38147 semapv:UnspecifiedMatching MONDO:0017304 ocular albinism skos:exactMatch Orphanet:284804 Ocular albinism semapv:UnspecifiedMatching MONDO:0017304 ocular albinism skos:exactMatch SCTID:26399002 semapv:UnspecifiedMatching MONDO:0017304 ocular albinism skos:exactMatch UMLS:C0078917 semapv:UnspecifiedMatching MONDO:0017304 ocular albinism skos:exactMatch icd11.foundation:1147926040 Ocular albinism semapv:UnspecifiedMatching MONDO:0017304 ocular albinism skos:exactMatch mesh:D016117 semapv:UnspecifiedMatching MONDO:0017305 syndromic oculocutaneous albinism skos:exactMatch MEDGEN:1843078 semapv:UnspecifiedMatching MONDO:0017305 syndromic oculocutaneous albinism skos:exactMatch Orphanet:284811 Syndromic oculocutaneous albinism semapv:UnspecifiedMatching MONDO:0017305 syndromic oculocutaneous albinism skos:exactMatch UMLS:C5681016 semapv:UnspecifiedMatching MONDO:0017306 disorder of phenylalanine metabolism skos:exactMatch MEDGEN:541325 semapv:UnspecifiedMatching MONDO:0017306 disorder of phenylalanine metabolism skos:exactMatch Orphanet:284814 Disorder of phenylalanine metabolism semapv:UnspecifiedMatching MONDO:0017306 disorder of phenylalanine metabolism skos:exactMatch SCTID:12957008 semapv:UnspecifiedMatching MONDO:0017306 disorder of phenylalanine metabolism skos:exactMatch UMLS:C0268461 semapv:UnspecifiedMatching MONDO:0017307 disorder of tyrosine metabolism skos:exactMatch MEDGEN:541330 semapv:UnspecifiedMatching MONDO:0017307 disorder of tyrosine metabolism skos:exactMatch Orphanet:284818 Disorder of tyrosine metabolism semapv:UnspecifiedMatching MONDO:0017307 disorder of tyrosine metabolism skos:exactMatch SCTID:37200009 semapv:UnspecifiedMatching MONDO:0017307 disorder of tyrosine metabolism skos:exactMatch UMLS:C0268482 semapv:UnspecifiedMatching MONDO:0017307 disorder of tyrosine metabolism skos:exactMatch icd11.foundation:1842978338 Disorders of tyrosine metabolism semapv:UnspecifiedMatching MONDO:0017308 obsolete Marfan syndrome type 2 skos:exactMatch NCIT:C75007 Marfan Syndrome Type II semapv:UnspecifiedMatching MONDO:0017308 obsolete Marfan syndrome type 2 skos:exactMatch mesh:C535911 semapv:UnspecifiedMatching MONDO:0017309 neonatal Marfan syndrome skos:exactMatch MEDGEN:864491 semapv:UnspecifiedMatching MONDO:0017309 neonatal Marfan syndrome skos:exactMatch Orphanet:284979 Neonatal Marfan syndrome semapv:UnspecifiedMatching MONDO:0017309 neonatal Marfan syndrome skos:exactMatch SCTID:763839005 semapv:UnspecifiedMatching MONDO:0017309 neonatal Marfan syndrome skos:exactMatch UMLS:C4016054 semapv:UnspecifiedMatching MONDO:0017309 neonatal Marfan syndrome skos:exactMatch icd11.foundation:1102890898 Neonatal Marfan syndrome semapv:UnspecifiedMatching MONDO:0017310 Marfan and Marfan-related disorder skos:exactMatch MEDGEN:1842966 semapv:UnspecifiedMatching MONDO:0017310 Marfan and Marfan-related disorder skos:exactMatch Orphanet:284993 Marfan syndrome and Marfan-related disorders semapv:UnspecifiedMatching MONDO:0017310 Marfan and Marfan-related disorder skos:exactMatch UMLS:C5681015 semapv:UnspecifiedMatching MONDO:0017311 obsolete rare disease with thoracic aortic aneurysm and aortic dissection skos:exactMatch Orphanet:285014 Rare disease with thoracic aortic aneurysm and aortic dissection semapv:UnspecifiedMatching MONDO:0017312 Perrault syndrome skos:exactMatch DOID:0050857 Perrault syndrome semapv:UnspecifiedMatching MONDO:0017312 Perrault syndrome skos:exactMatch MEDGEN:151934 semapv:UnspecifiedMatching MONDO:0017312 Perrault syndrome skos:exactMatch OMIMPS:233400 Perrault syndrome semapv:UnspecifiedMatching MONDO:0017312 Perrault syndrome skos:exactMatch Orphanet:2855 Perrault syndrome semapv:UnspecifiedMatching MONDO:0017312 Perrault syndrome skos:exactMatch SCTID:93466004 semapv:UnspecifiedMatching MONDO:0017312 Perrault syndrome skos:exactMatch UMLS:C0685838 semapv:UnspecifiedMatching MONDO:0017312 Perrault syndrome skos:exactMatch icd11.foundation:256968598 Perrault syndrome semapv:UnspecifiedMatching MONDO:0017313 disorder of folate metabolism and transport skos:exactMatch MEDGEN:1842423 semapv:UnspecifiedMatching MONDO:0017313 disorder of folate metabolism and transport skos:exactMatch Orphanet:285657 Disorder of folate metabolism and transport semapv:UnspecifiedMatching MONDO:0017313 disorder of folate metabolism and transport skos:exactMatch UMLS:C5681010 semapv:UnspecifiedMatching MONDO:0017313 disorder of folate metabolism and transport skos:exactMatch icd11.foundation:2081529009 Disorders of folate metabolism or transport semapv:UnspecifiedMatching MONDO:0017314 Ehlers-Danlos syndrome, vascular type skos:exactMatch MEDGEN:82790 semapv:UnspecifiedMatching MONDO:0017314 Ehlers-Danlos syndrome, vascular type skos:exactMatch NCIT:C125699 Ehlers-Danlos Syndrome, Type IV semapv:UnspecifiedMatching MONDO:0017314 Ehlers-Danlos syndrome, vascular type skos:exactMatch Orphanet:286 Vascular Ehlers-Danlos syndrome semapv:UnspecifiedMatching MONDO:0017314 Ehlers-Danlos syndrome, vascular type skos:exactMatch SCTID:17025000 semapv:UnspecifiedMatching MONDO:0017314 Ehlers-Danlos syndrome, vascular type skos:exactMatch UMLS:C0268338 semapv:UnspecifiedMatching MONDO:0017314 Ehlers-Danlos syndrome, vascular type skos:exactMatch icd11.foundation:1202686415 Ehlers-Danlos syndrome, vascular type semapv:UnspecifiedMatching MONDO:0017315 short stature-webbed neck-heart disease syndrome skos:exactMatch MEDGEN:419677 semapv:UnspecifiedMatching MONDO:0017315 short stature-webbed neck-heart disease syndrome skos:exactMatch Orphanet:2865 Short stature-webbed neck-heart disease syndrome semapv:UnspecifiedMatching MONDO:0017315 short stature-webbed neck-heart disease syndrome skos:exactMatch SCTID:721073008 semapv:UnspecifiedMatching MONDO:0017315 short stature-webbed neck-heart disease syndrome skos:exactMatch UMLS:C2930950 semapv:UnspecifiedMatching MONDO:0017315 short stature-webbed neck-heart disease syndrome skos:exactMatch mesh:C535613 semapv:UnspecifiedMatching MONDO:0017316 short stature-deafness-neutrophil dysfunction-dysmorphism syndrome skos:exactMatch MEDGEN:906653 semapv:UnspecifiedMatching MONDO:0017316 short stature-deafness-neutrophil dysfunction-dysmorphism syndrome skos:exactMatch Orphanet:2866 Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome semapv:UnspecifiedMatching MONDO:0017316 short stature-deafness-neutrophil dysfunction-dysmorphism syndrome skos:exactMatch SCTID:716192009 semapv:UnspecifiedMatching MONDO:0017316 short stature-deafness-neutrophil dysfunction-dysmorphism syndrome skos:exactMatch UMLS:C4274785 semapv:UnspecifiedMatching MONDO:0017317 phakomatosis pigmentokeratotica skos:exactMatch MEDGEN:419860 semapv:UnspecifiedMatching MONDO:0017317 phakomatosis pigmentokeratotica skos:exactMatch Orphanet:2874 Phakomatosis pigmentokeratotica semapv:UnspecifiedMatching MONDO:0017317 phakomatosis pigmentokeratotica skos:exactMatch SCTID:723455009 semapv:UnspecifiedMatching MONDO:0017317 phakomatosis pigmentokeratotica skos:exactMatch UMLS:C2931658 semapv:UnspecifiedMatching MONDO:0017317 phakomatosis pigmentokeratotica skos:exactMatch icd11.foundation:960559196 Phakomatosis pigmentokeratotica semapv:UnspecifiedMatching MONDO:0017317 phakomatosis pigmentokeratotica skos:exactMatch mesh:C537893 semapv:UnspecifiedMatching MONDO:0017318 phakomatosis pigmentovascularis skos:exactMatch MEDGEN:220888 semapv:UnspecifiedMatching MONDO:0017318 phakomatosis pigmentovascularis skos:exactMatch Orphanet:2875 Phakomatosis pigmentovascularis semapv:UnspecifiedMatching MONDO:0017318 phakomatosis pigmentovascularis skos:exactMatch SCTID:403545005 semapv:UnspecifiedMatching MONDO:0017318 phakomatosis pigmentovascularis skos:exactMatch UMLS:C1274879 semapv:UnspecifiedMatching MONDO:0017318 phakomatosis pigmentovascularis skos:exactMatch icd11.foundation:1768130414 Phakomatosis pigmentovascularis semapv:UnspecifiedMatching MONDO:0017318 phakomatosis pigmentovascularis skos:exactMatch mesh:C537894 semapv:UnspecifiedMatching MONDO:0017319 hereditary elliptocytosis skos:exactMatch DOID:2373 hereditary elliptocytosis semapv:UnspecifiedMatching MONDO:0017319 hereditary elliptocytosis skos:exactMatch ICD10CM:D58.1 Hereditary elliptocytosis semapv:UnspecifiedMatching MONDO:0017319 hereditary elliptocytosis skos:exactMatch MEDGEN:41747 semapv:UnspecifiedMatching MONDO:0017319 hereditary elliptocytosis skos:exactMatch NCIT:C35882 Hereditary Elliptocytosis semapv:UnspecifiedMatching MONDO:0017319 hereditary elliptocytosis skos:exactMatch Orphanet:288 Hereditary elliptocytosis semapv:UnspecifiedMatching MONDO:0017319 hereditary elliptocytosis skos:exactMatch SCTID:178935009 semapv:UnspecifiedMatching MONDO:0017319 hereditary elliptocytosis skos:exactMatch UMLS:C0013902 semapv:UnspecifiedMatching MONDO:0017319 hereditary elliptocytosis skos:exactMatch icd11.foundation:679955609 Hereditary elliptocytosis semapv:UnspecifiedMatching MONDO:0017319 hereditary elliptocytosis skos:exactMatch mesh:D004612 semapv:UnspecifiedMatching MONDO:0017320 phosphoenolpyruvate carboxykinase deficiency skos:exactMatch MEDGEN:120618 semapv:UnspecifiedMatching MONDO:0017320 phosphoenolpyruvate carboxykinase deficiency skos:exactMatch NCIT:C99015 Phosphoenolpyruvate Carboxykinase Deficiency semapv:UnspecifiedMatching MONDO:0017320 phosphoenolpyruvate carboxykinase deficiency skos:exactMatch Orphanet:2880 Phosphoenolpyruvate carboxykinase deficiency semapv:UnspecifiedMatching MONDO:0017320 phosphoenolpyruvate carboxykinase deficiency skos:exactMatch SCTID:5335002 semapv:UnspecifiedMatching MONDO:0017320 phosphoenolpyruvate carboxykinase deficiency skos:exactMatch UMLS:C0268194 semapv:UnspecifiedMatching MONDO:0017320 phosphoenolpyruvate carboxykinase deficiency skos:exactMatch icd11.foundation:1350463176 Phosphoenolpyruvate carboxykinase deficiency semapv:UnspecifiedMatching MONDO:0017320 phosphoenolpyruvate carboxykinase deficiency skos:exactMatch mesh:C536654 semapv:UnspecifiedMatching MONDO:0017321 pili torti-onychodysplasia syndrome skos:exactMatch MEDGEN:1375227 semapv:UnspecifiedMatching MONDO:0017321 pili torti-onychodysplasia syndrome skos:exactMatch Orphanet:2890 Pili torti-onychodysplasia syndrome semapv:UnspecifiedMatching MONDO:0017321 pili torti-onychodysplasia syndrome skos:exactMatch UMLS:C4509919 semapv:UnspecifiedMatching MONDO:0017322 disorders of vitamin D metabolism skos:exactMatch MEDGEN:1842308 semapv:UnspecifiedMatching MONDO:0017322 disorders of vitamin D metabolism skos:exactMatch Orphanet:289098 Disorders of vitamin D metabolism semapv:UnspecifiedMatching MONDO:0017322 disorders of vitamin D metabolism skos:exactMatch UMLS:C5681017 semapv:UnspecifiedMatching MONDO:0017323 hypocalcemic rickets skos:exactMatch MEDGEN:927864 semapv:UnspecifiedMatching MONDO:0017323 hypocalcemic rickets skos:exactMatch NCIT:C131421 Calcium Deficiency Rickets semapv:UnspecifiedMatching MONDO:0017323 hypocalcemic rickets skos:exactMatch Orphanet:289103 Hypocalcemic rickets semapv:UnspecifiedMatching MONDO:0017323 hypocalcemic rickets skos:exactMatch SCTID:722947004 semapv:UnspecifiedMatching MONDO:0017323 hypocalcemic rickets skos:exactMatch UMLS:C4302195 semapv:UnspecifiedMatching MONDO:0017324 autosomal recessive hypophosphatemic rickets skos:exactMatch DOID:0050949 autosomal recessive hypophosphatemic rickets semapv:UnspecifiedMatching MONDO:0017324 autosomal recessive hypophosphatemic rickets skos:exactMatch MEDGEN:137975 semapv:UnspecifiedMatching MONDO:0017324 autosomal recessive hypophosphatemic rickets skos:exactMatch Orphanet:289176 Autosomal recessive hypophosphatemic rickets semapv:UnspecifiedMatching MONDO:0017324 autosomal recessive hypophosphatemic rickets skos:exactMatch SCTID:90505000 semapv:UnspecifiedMatching MONDO:0017324 autosomal recessive hypophosphatemic rickets skos:exactMatch UMLS:C0342643 semapv:UnspecifiedMatching MONDO:0017325 early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation skos:exactMatch MEDGEN:1663334 semapv:UnspecifiedMatching MONDO:0017325 early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation skos:exactMatch OMIM:245570 epilepsy, focal, with speech disorder and with or without impaired intellectual development semapv:UnspecifiedMatching MONDO:0017325 early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation skos:exactMatch Orphanet:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation semapv:UnspecifiedMatching MONDO:0017325 early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation skos:exactMatch UMLS:C4749281 semapv:UnspecifiedMatching MONDO:0017325 early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation skos:exactMatch icd11.foundation:1655554340 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation semapv:UnspecifiedMatching MONDO:0017326 infective dermatitis associated with HTLV-1 skos:exactMatch MEDGEN:895843 semapv:UnspecifiedMatching MONDO:0017326 infective dermatitis associated with HTLV-1 skos:exactMatch NCIT:C129260 IDH Gene Family semapv:UnspecifiedMatching MONDO:0017326 infective dermatitis associated with HTLV-1 skos:exactMatch Orphanet:289347 Infective dermatitis associated with HTLV-1 semapv:UnspecifiedMatching MONDO:0017326 infective dermatitis associated with HTLV-1 skos:exactMatch UMLS:C4274291 semapv:UnspecifiedMatching MONDO:0017327 primary non-gestational choriocarcinoma of ovary skos:exactMatch MEDGEN:906353 semapv:UnspecifiedMatching MONDO:0017327 primary non-gestational choriocarcinoma of ovary skos:exactMatch Orphanet:289356 Primary non-gestational choriocarcinoma of ovary semapv:UnspecifiedMatching MONDO:0017327 primary non-gestational choriocarcinoma of ovary skos:exactMatch SCTID:716588005 semapv:UnspecifiedMatching MONDO:0017327 primary non-gestational choriocarcinoma of ovary skos:exactMatch UMLS:C4274424 semapv:UnspecifiedMatching MONDO:0017328 non-central nervous system-localized embryonal carcinoma skos:exactMatch MEDGEN:1842755 semapv:UnspecifiedMatching MONDO:0017328 non-central nervous system-localized embryonal carcinoma skos:exactMatch Orphanet:289362 Non-central nervous system-localized embryonal carcinoma semapv:UnspecifiedMatching MONDO:0017328 non-central nervous system-localized embryonal carcinoma skos:exactMatch UMLS:C5679946 semapv:UnspecifiedMatching MONDO:0017329 familial vesicoureteral reflux skos:exactMatch MEDGEN:1637583 semapv:UnspecifiedMatching MONDO:0017329 familial vesicoureteral reflux skos:exactMatch OMIMPS:193000 Vesicoureteral reflux semapv:UnspecifiedMatching MONDO:0017329 familial vesicoureteral reflux skos:exactMatch Orphanet:289365 Familial vesicoureteral reflux semapv:UnspecifiedMatching MONDO:0017329 familial vesicoureteral reflux skos:exactMatch SCTID:763716008 semapv:UnspecifiedMatching MONDO:0017329 familial vesicoureteral reflux skos:exactMatch UMLS:C4706552 semapv:UnspecifiedMatching MONDO:0017330 malignancy diagnosed during pregnancy skos:exactMatch MEDGEN:1830090 semapv:UnspecifiedMatching MONDO:0017330 malignancy diagnosed during pregnancy skos:exactMatch Orphanet:289385 Malignancy diagnosed during pregnancy semapv:UnspecifiedMatching MONDO:0017330 malignancy diagnosed during pregnancy skos:exactMatch UMLS:C5679948 semapv:UnspecifiedMatching MONDO:0017331 Pilotto syndrome skos:exactMatch MEDGEN:419091 semapv:UnspecifiedMatching MONDO:0017331 Pilotto syndrome skos:exactMatch UMLS:C2931484 semapv:UnspecifiedMatching MONDO:0017331 Pilotto syndrome skos:exactMatch mesh:C537400 semapv:UnspecifiedMatching MONDO:0017332 pyoderma gangrenosum-acne-suppurative hidradenitis syndrome skos:exactMatch MEDGEN:1681766 semapv:UnspecifiedMatching MONDO:0017332 pyoderma gangrenosum-acne-suppurative hidradenitis syndrome skos:exactMatch Orphanet:289478 PASH syndrome semapv:UnspecifiedMatching MONDO:0017332 pyoderma gangrenosum-acne-suppurative hidradenitis syndrome skos:exactMatch UMLS:C5191642 semapv:UnspecifiedMatching MONDO:0017334 12q15q21.1 microdeletion syndrome skos:exactMatch MEDGEN:1383455 semapv:UnspecifiedMatching MONDO:0017334 12q15q21.1 microdeletion syndrome skos:exactMatch Orphanet:289513 12q15q21 microdeletion syndrome semapv:UnspecifiedMatching MONDO:0017334 12q15q21.1 microdeletion syndrome skos:exactMatch SCTID:734030009 semapv:UnspecifiedMatching MONDO:0017334 12q15q21.1 microdeletion syndrome skos:exactMatch UMLS:C4518344 semapv:UnspecifiedMatching MONDO:0017335 microtriplication 11q24.1 skos:exactMatch MEDGEN:1656562 semapv:UnspecifiedMatching MONDO:0017335 microtriplication 11q24.1 skos:exactMatch Orphanet:289522 Microtriplication 11q24.1 syndrome semapv:UnspecifiedMatching MONDO:0017335 microtriplication 11q24.1 skos:exactMatch UMLS:C4749373 semapv:UnspecifiedMatching MONDO:0017336 obsolete fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency skos:exactMatch Orphanet:289527 OBSOLETE: Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency semapv:UnspecifiedMatching MONDO:0017337 inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency skos:exactMatch MEDGEN:1643960 semapv:UnspecifiedMatching MONDO:0017337 inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency skos:exactMatch Orphanet:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency semapv:UnspecifiedMatching MONDO:0017337 inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency skos:exactMatch SCTID:764960005 semapv:UnspecifiedMatching MONDO:0017337 inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency skos:exactMatch UMLS:C4707238 semapv:UnspecifiedMatching MONDO:0017338 fatal multiple mitochondrial dysfunctions syndrome skos:exactMatch DOID:0070330 multiple mitochondrial dysfunctions syndrome semapv:UnspecifiedMatching MONDO:0017338 fatal multiple mitochondrial dysfunctions syndrome skos:exactMatch MEDGEN:502474 semapv:UnspecifiedMatching MONDO:0017338 fatal multiple mitochondrial dysfunctions syndrome skos:exactMatch OMIMPS:605711 Multiple mitochondrial dysfunctions syndrome semapv:UnspecifiedMatching MONDO:0017338 fatal multiple mitochondrial dysfunctions syndrome skos:exactMatch Orphanet:289573 Multiple mitochondrial dysfunctions syndrome semapv:UnspecifiedMatching MONDO:0017338 fatal multiple mitochondrial dysfunctions syndrome skos:exactMatch SCTID:720827002 semapv:UnspecifiedMatching MONDO:0017338 fatal multiple mitochondrial dysfunctions syndrome skos:exactMatch UMLS:C3502075 semapv:UnspecifiedMatching MONDO:0017338 fatal multiple mitochondrial dysfunctions syndrome skos:exactMatch mesh:C565304 semapv:UnspecifiedMatching MONDO:0017339 exfoliative ichthyosis skos:exactMatch MEDGEN:325027 semapv:UnspecifiedMatching MONDO:0017339 exfoliative ichthyosis skos:exactMatch Orphanet:289586 Exfoliative ichthyosis semapv:UnspecifiedMatching MONDO:0017339 exfoliative ichthyosis skos:exactMatch UMLS:C1838440 semapv:UnspecifiedMatching MONDO:0017340 juvenile nasopharyngeal angiofibroma skos:exactMatch MEDGEN:237137 semapv:UnspecifiedMatching MONDO:0017340 juvenile nasopharyngeal angiofibroma skos:exactMatch NCIT:C27479 Sinonasal Tract Angiofibroma semapv:UnspecifiedMatching MONDO:0017340 juvenile nasopharyngeal angiofibroma skos:exactMatch Orphanet:289596 Juvenile nasopharyngeal angiofibroma semapv:UnspecifiedMatching MONDO:0017340 juvenile nasopharyngeal angiofibroma skos:exactMatch SCTID:716590006 semapv:UnspecifiedMatching MONDO:0017340 juvenile nasopharyngeal angiofibroma skos:exactMatch UMLS:C1367536 semapv:UnspecifiedMatching MONDO:0017341 virus associated tumor skos:exactMatch MEDGEN:1842723 semapv:UnspecifiedMatching MONDO:0017341 virus associated tumor skos:exactMatch Orphanet:289635 Rare virus associated tumor semapv:UnspecifiedMatching MONDO:0017341 virus associated tumor skos:exactMatch UMLS:C5681008 semapv:UnspecifiedMatching MONDO:0017342 Epstein-Barr virus-related tumor skos:exactMatch MEDGEN:1842315 semapv:UnspecifiedMatching MONDO:0017342 Epstein-Barr virus-related tumor skos:exactMatch Orphanet:289638 Epstein-Barr Virus-related tumor semapv:UnspecifiedMatching MONDO:0017342 Epstein-Barr virus-related tumor skos:exactMatch UMLS:C5679942 semapv:UnspecifiedMatching MONDO:0017343 Epstein-Barr virus-associated lymphoproliferative disorder skos:exactMatch MEDGEN:797800 semapv:UnspecifiedMatching MONDO:0017343 Epstein-Barr virus-associated lymphoproliferative disorder skos:exactMatch Orphanet:289644 Epstein-Barr virus-associated malignant lymphoproliferative disorder semapv:UnspecifiedMatching MONDO:0017343 Epstein-Barr virus-associated lymphoproliferative disorder skos:exactMatch UMLS:C2363744 semapv:UnspecifiedMatching MONDO:0017344 Epstein-Barr virus-associated carcinoma skos:exactMatch MEDGEN:1842328 semapv:UnspecifiedMatching MONDO:0017344 Epstein-Barr virus-associated carcinoma skos:exactMatch NCIT:C27690 EBV-Related Carcinoma semapv:UnspecifiedMatching MONDO:0017344 Epstein-Barr virus-associated carcinoma skos:exactMatch Orphanet:289651 Epstein-Barr Virus-associated carcinoma semapv:UnspecifiedMatching MONDO:0017344 Epstein-Barr virus-associated carcinoma skos:exactMatch UMLS:C5679940 semapv:UnspecifiedMatching MONDO:0017345 Epstein-Barr virus-associated mesenchymal tumor skos:exactMatch MEDGEN:1843096 semapv:UnspecifiedMatching MONDO:0017345 Epstein-Barr virus-associated mesenchymal tumor skos:exactMatch Orphanet:289656 Epstein-Barr Virus-associated mesenchymal tumor semapv:UnspecifiedMatching MONDO:0017345 Epstein-Barr virus-associated mesenchymal tumor skos:exactMatch UMLS:C5679941 semapv:UnspecifiedMatching MONDO:0017346 Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly skos:exactMatch MEDGEN:397690 semapv:UnspecifiedMatching MONDO:0017346 Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly skos:exactMatch NCIT:C80281 EBV-Positive Diffuse Large B-Cell Lymphoma, Not Otherwise Specified semapv:UnspecifiedMatching MONDO:0017346 Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly skos:exactMatch Orphanet:289661 Epstein-Barr virus-positive diffuse large B-cell lymphoma semapv:UnspecifiedMatching MONDO:0017346 Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly skos:exactMatch SCTID:716788007 semapv:UnspecifiedMatching MONDO:0017346 Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly skos:exactMatch UMLS:C2700007 semapv:UnspecifiedMatching MONDO:0017346 Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly skos:exactMatch icd11.foundation:407807101 Epstein-Barr Virus-positive diffuse large B-cell lymphoma of the elderly semapv:UnspecifiedMatching MONDO:0017347 plasmablastic lymphoma skos:exactMatch DOID:0080779 plasmablastic lymphoma semapv:UnspecifiedMatching MONDO:0017347 plasmablastic lymphoma skos:exactMatch MEDGEN:483338 semapv:UnspecifiedMatching MONDO:0017347 plasmablastic lymphoma skos:exactMatch NCIT:C7224 Plasmablastic Lymphoma semapv:UnspecifiedMatching MONDO:0017347 plasmablastic lymphoma skos:exactMatch Orphanet:289666 Plasmablastic lymphoma semapv:UnspecifiedMatching MONDO:0017347 plasmablastic lymphoma skos:exactMatch SCTID:724648008 semapv:UnspecifiedMatching MONDO:0017347 plasmablastic lymphoma skos:exactMatch UMLS:C3472614 semapv:UnspecifiedMatching MONDO:0017347 plasmablastic lymphoma skos:exactMatch icd11.foundation:803046659 Plasmablastic lymphoma semapv:UnspecifiedMatching MONDO:0017347 plasmablastic lymphoma skos:exactMatch mesh:D000069293 semapv:UnspecifiedMatching MONDO:0017348 lymphoepithelial-like carcinoma skos:exactMatch Orphanet:289682 Lymphoepithelial-like carcinoma semapv:UnspecifiedMatching MONDO:0017349 myopericytoma skos:exactMatch MEDGEN:224912 semapv:UnspecifiedMatching MONDO:0017349 myopericytoma skos:exactMatch NCIT:C50401 Myopericytoma semapv:UnspecifiedMatching MONDO:0017349 myopericytoma skos:exactMatch Orphanet:289685 Myopericytoma semapv:UnspecifiedMatching MONDO:0017349 myopericytoma skos:exactMatch UMLS:C1302808 semapv:UnspecifiedMatching MONDO:0017349 myopericytoma skos:exactMatch mesh:D000077777 semapv:UnspecifiedMatching MONDO:0017350 inborn disorder of tryptophan metabolism skos:exactMatch MEDGEN:22506 semapv:UnspecifiedMatching MONDO:0017350 inborn disorder of tryptophan metabolism skos:exactMatch Orphanet:289829 Disorder of tryptophan metabolism semapv:UnspecifiedMatching MONDO:0017350 inborn disorder of tryptophan metabolism skos:exactMatch SCTID:5181007 semapv:UnspecifiedMatching MONDO:0017350 inborn disorder of tryptophan metabolism skos:exactMatch UMLS:C0041254 semapv:UnspecifiedMatching MONDO:0017350 inborn disorder of tryptophan metabolism skos:exactMatch icd11.foundation:282654317 Disorders of tryptophan metabolism semapv:UnspecifiedMatching MONDO:0017351 inborn disorder of lysine and hydroxylysine metabolism skos:exactMatch ICD10CM:E72.3 Disorders of lysine and hydroxylysine metabolism semapv:UnspecifiedMatching MONDO:0017351 inborn disorder of lysine and hydroxylysine metabolism skos:exactMatch MEDGEN:541359 semapv:UnspecifiedMatching MONDO:0017351 inborn disorder of lysine and hydroxylysine metabolism skos:exactMatch Orphanet:289832 Disorder of lysine and hydroxylysine metabolism semapv:UnspecifiedMatching MONDO:0017351 inborn disorder of lysine and hydroxylysine metabolism skos:exactMatch SCTID:237929000 semapv:UnspecifiedMatching MONDO:0017351 inborn disorder of lysine and hydroxylysine metabolism skos:exactMatch UMLS:C0268552 semapv:UnspecifiedMatching MONDO:0017351 inborn disorder of lysine and hydroxylysine metabolism skos:exactMatch icd11.foundation:367868681 Disorders of lysine or hydroxylysine metabolism semapv:UnspecifiedMatching MONDO:0017352 disorder of glutamine metabolism skos:exactMatch MEDGEN:575171 semapv:UnspecifiedMatching MONDO:0017352 disorder of glutamine metabolism skos:exactMatch Orphanet:289841 Disorder of glutamine metabolism semapv:UnspecifiedMatching MONDO:0017352 disorder of glutamine metabolism skos:exactMatch SCTID:190724004 semapv:UnspecifiedMatching MONDO:0017352 disorder of glutamine metabolism skos:exactMatch UMLS:C0342669 semapv:UnspecifiedMatching MONDO:0017353 neonatal glycine encephalopathy skos:exactMatch MEDGEN:1785446 semapv:UnspecifiedMatching MONDO:0017353 neonatal glycine encephalopathy skos:exactMatch Orphanet:289857 Neonatal glycine encephalopathy semapv:UnspecifiedMatching MONDO:0017353 neonatal glycine encephalopathy skos:exactMatch UMLS:C5548200 semapv:UnspecifiedMatching MONDO:0017353 neonatal glycine encephalopathy skos:exactMatch icd11.foundation:414151121 Neonatal glycine encephalopathy semapv:UnspecifiedMatching MONDO:0017354 infantile glycine encephalopathy skos:exactMatch MEDGEN:1781124 semapv:UnspecifiedMatching MONDO:0017354 infantile glycine encephalopathy skos:exactMatch Orphanet:289860 Infantile glycine encephalopathy semapv:UnspecifiedMatching MONDO:0017354 infantile glycine encephalopathy skos:exactMatch UMLS:C5548209 semapv:UnspecifiedMatching MONDO:0017354 infantile glycine encephalopathy skos:exactMatch icd11.foundation:563302182 Infantile glycine encephalopathy semapv:UnspecifiedMatching MONDO:0017355 inborn disorder of proline metabolism skos:exactMatch MEDGEN:1842611 semapv:UnspecifiedMatching MONDO:0017355 inborn disorder of proline metabolism skos:exactMatch Orphanet:289866 Disorder of proline metabolism semapv:UnspecifiedMatching MONDO:0017355 inborn disorder of proline metabolism skos:exactMatch UMLS:C5681004 semapv:UnspecifiedMatching MONDO:0017355 inborn disorder of proline metabolism skos:exactMatch icd11.foundation:1707028291 Disorders of proline or hydroxyproline metabolism semapv:UnspecifiedMatching MONDO:0017356 inborn disorder of ornithine metabolism skos:exactMatch MEDGEN:575181 semapv:UnspecifiedMatching MONDO:0017356 inborn disorder of ornithine metabolism skos:exactMatch Orphanet:289869 Disorder of ornithine metabolism semapv:UnspecifiedMatching MONDO:0017356 inborn disorder of ornithine metabolism skos:exactMatch SCTID:237928008 semapv:UnspecifiedMatching MONDO:0017356 inborn disorder of ornithine metabolism skos:exactMatch UMLS:C0342690 semapv:UnspecifiedMatching MONDO:0017356 inborn disorder of ornithine metabolism skos:exactMatch icd11.foundation:1711515805 Disorders of ornithine metabolism semapv:UnspecifiedMatching MONDO:0017357 transient hyperammonemia of the newborn skos:exactMatch MEDGEN:541358 semapv:UnspecifiedMatching MONDO:0017357 transient hyperammonemia of the newborn skos:exactMatch Orphanet:289877 Transient hyperammonemia of the newborn semapv:UnspecifiedMatching MONDO:0017357 transient hyperammonemia of the newborn skos:exactMatch UMLS:C0268549 semapv:UnspecifiedMatching MONDO:0017359 3-methylglutaconic aciduria skos:exactMatch DOID:0060336 3-methylglutaconic aciduria semapv:UnspecifiedMatching MONDO:0017359 3-methylglutaconic aciduria skos:exactMatch ICD10CM:E71.111 3-methylglutaconic aciduria semapv:UnspecifiedMatching MONDO:0017359 3-methylglutaconic aciduria skos:exactMatch MEDGEN:777186 semapv:UnspecifiedMatching MONDO:0017359 3-methylglutaconic aciduria skos:exactMatch NCIT:C98678 3-Methylglutaconic Aciduria semapv:UnspecifiedMatching MONDO:0017359 3-methylglutaconic aciduria skos:exactMatch OMIMPS:250950 3-Methylglutaconic aciduria semapv:UnspecifiedMatching MONDO:0017359 3-methylglutaconic aciduria skos:exactMatch Orphanet:289902 3-methylglutaconic aciduria semapv:UnspecifiedMatching MONDO:0017359 3-methylglutaconic aciduria skos:exactMatch SCTID:237950009 semapv:UnspecifiedMatching MONDO:0017359 3-methylglutaconic aciduria skos:exactMatch UMLS:C3696376 semapv:UnspecifiedMatching MONDO:0017359 3-methylglutaconic aciduria skos:exactMatch icd11.foundation:1008261602 3-methylglutaconic aciduria semapv:UnspecifiedMatching MONDO:0017359 3-methylglutaconic aciduria skos:exactMatch mesh:C579867 semapv:UnspecifiedMatching MONDO:0017360 vitamin B12-unresponsive methylmalonic acidemia type mut0 skos:exactMatch MEDGEN:575191 semapv:UnspecifiedMatching MONDO:0017360 vitamin B12-unresponsive methylmalonic acidemia type mut0 skos:exactMatch Orphanet:289916 Vitamin B12-unresponsive methylmalonic acidemia type mut0 semapv:UnspecifiedMatching MONDO:0017360 vitamin B12-unresponsive methylmalonic acidemia type mut0 skos:exactMatch SCTID:237945003 semapv:UnspecifiedMatching MONDO:0017360 vitamin B12-unresponsive methylmalonic acidemia type mut0 skos:exactMatch UMLS:C0342718 semapv:UnspecifiedMatching MONDO:0017361 congenital rubella syndrome skos:exactMatch EFO:0007218 semapv:UnspecifiedMatching MONDO:0017361 congenital rubella syndrome skos:exactMatch ICD10CM:P35.0 Congenital rubella syndrome semapv:UnspecifiedMatching MONDO:0017361 congenital rubella syndrome skos:exactMatch MEDGEN:19841 semapv:UnspecifiedMatching MONDO:0017361 congenital rubella syndrome skos:exactMatch NCIT:C34992 Congenital Rubella semapv:UnspecifiedMatching MONDO:0017361 congenital rubella syndrome skos:exactMatch Orphanet:290 Congenital rubella syndrome semapv:UnspecifiedMatching MONDO:0017361 congenital rubella syndrome skos:exactMatch SCTID:1857005 semapv:UnspecifiedMatching MONDO:0017361 congenital rubella syndrome skos:exactMatch UMLS:C0035921 semapv:UnspecifiedMatching MONDO:0017361 congenital rubella syndrome skos:exactMatch icd11.foundation:1059053724 Congenital rubella syndrome semapv:UnspecifiedMatching MONDO:0017361 congenital rubella syndrome skos:exactMatch mesh:D012410 semapv:UnspecifiedMatching MONDO:0017362 neuralgic amyotrophy skos:exactMatch ICD10CM:G54.5 Neuralgic amyotrophy semapv:UnspecifiedMatching MONDO:0017362 neuralgic amyotrophy skos:exactMatch MEDGEN:307145 semapv:UnspecifiedMatching MONDO:0017362 neuralgic amyotrophy skos:exactMatch Orphanet:2901 Neuralgic amyotrophy semapv:UnspecifiedMatching MONDO:0017362 neuralgic amyotrophy skos:exactMatch UMLS:C1510479 semapv:UnspecifiedMatching MONDO:0017362 neuralgic amyotrophy skos:exactMatch icd11.foundation:302246011 Neuralgic shoulder amyotrophy semapv:UnspecifiedMatching MONDO:0017363 idiopathic chronic eosinophilic pneumonia skos:exactMatch MEDGEN:443938 semapv:UnspecifiedMatching MONDO:0017363 idiopathic chronic eosinophilic pneumonia skos:exactMatch Orphanet:2902 Idiopathic chronic eosinophilic pneumonia semapv:UnspecifiedMatching MONDO:0017363 idiopathic chronic eosinophilic pneumonia skos:exactMatch UMLS:C2930941 semapv:UnspecifiedMatching MONDO:0017363 idiopathic chronic eosinophilic pneumonia skos:exactMatch icd11.foundation:958353326 Idiopathic chronic eosinophilic pneumonitis semapv:UnspecifiedMatching MONDO:0017363 idiopathic chronic eosinophilic pneumonia skos:exactMatch mesh:C535590 semapv:UnspecifiedMatching MONDO:0017364 POEMS syndrome skos:exactMatch DOID:14039 POEMS syndrome semapv:UnspecifiedMatching MONDO:0017364 POEMS syndrome skos:exactMatch EFO:1001115 semapv:UnspecifiedMatching MONDO:0017364 POEMS syndrome skos:exactMatch MEDGEN:39276 semapv:UnspecifiedMatching MONDO:0017364 POEMS syndrome skos:exactMatch NCIT:C80303 POEMS Syndrome semapv:UnspecifiedMatching MONDO:0017364 POEMS syndrome skos:exactMatch Orphanet:2905 POEMS syndrome semapv:UnspecifiedMatching MONDO:0017364 POEMS syndrome skos:exactMatch SCTID:79268002 semapv:UnspecifiedMatching MONDO:0017364 POEMS syndrome skos:exactMatch UMLS:C0085404 semapv:UnspecifiedMatching MONDO:0017364 POEMS syndrome skos:exactMatch icd11.foundation:1555299114 POEMS syndrome semapv:UnspecifiedMatching MONDO:0017364 POEMS syndrome skos:exactMatch mesh:D016878 semapv:UnspecifiedMatching MONDO:0017365 hereditary acrokeratotic poikiloderma, Weary type skos:exactMatch MEDGEN:96059 semapv:UnspecifiedMatching MONDO:0017365 hereditary acrokeratotic poikiloderma, Weary type skos:exactMatch Orphanet:2907 Hereditary acrokeratotic poikiloderma semapv:UnspecifiedMatching MONDO:0017365 hereditary acrokeratotic poikiloderma, Weary type skos:exactMatch UMLS:C0406556 semapv:UnspecifiedMatching MONDO:0017365 hereditary acrokeratotic poikiloderma, Weary type skos:exactMatch icd11.foundation:837824031 Hereditary acrokeratotic poikiloderma, Weary type semapv:UnspecifiedMatching MONDO:0017366 hereditary pheochromocytoma-paraganglioma skos:exactMatch MEDGEN:895844 semapv:UnspecifiedMatching MONDO:0017366 hereditary pheochromocytoma-paraganglioma skos:exactMatch OMIMPS:168000 Pheochromocytoma/paraganglioma syndrome semapv:UnspecifiedMatching MONDO:0017366 hereditary pheochromocytoma-paraganglioma skos:exactMatch Orphanet:29072 Hereditary pheochromocytoma-paraganglioma semapv:UnspecifiedMatching MONDO:0017366 hereditary pheochromocytoma-paraganglioma skos:exactMatch UMLS:C4274332 semapv:UnspecifiedMatching MONDO:0017368 obsolete systemic disease with skin involvement skos:exactMatch Orphanet:290836 Systemic disease with skin involvement semapv:UnspecifiedMatching MONDO:0017369 obsolete autoinflammatory syndrome with immune deficiency skos:exactMatch Orphanet:290839 Autoinflammatory syndrome with immune deficiency semapv:UnspecifiedMatching MONDO:0017370 obsolete autoinflammatory syndrome with skin involvement skos:exactMatch Orphanet:290842 Autoinflammatory syndrome with skin involvement semapv:UnspecifiedMatching MONDO:0017371 obsolete rare head and neck tumor skos:exactMatch Orphanet:290849 Rare head and neck tumor semapv:UnspecifiedMatching MONDO:0017372 congenital varicella syndrome skos:exactMatch MEDGEN:87473 semapv:UnspecifiedMatching MONDO:0017372 congenital varicella syndrome skos:exactMatch NCIT:C116800 Congenital Varicella Syndrome semapv:UnspecifiedMatching MONDO:0017372 congenital varicella syndrome skos:exactMatch Orphanet:291 Congenital varicella syndrome semapv:UnspecifiedMatching MONDO:0017372 congenital varicella syndrome skos:exactMatch SCTID:277644009 semapv:UnspecifiedMatching MONDO:0017372 congenital varicella syndrome skos:exactMatch UMLS:C0343560 semapv:UnspecifiedMatching MONDO:0017372 congenital varicella syndrome skos:exactMatch icd11.foundation:2071159826 Congenital Varicella Zoster virus infection semapv:UnspecifiedMatching MONDO:0017373 poliomyelitis skos:exactMatch DOID:4953 poliomyelitis semapv:UnspecifiedMatching MONDO:0017373 poliomyelitis skos:exactMatch EFO:0007450 semapv:UnspecifiedMatching MONDO:0017373 poliomyelitis skos:exactMatch MEDGEN:18545 semapv:UnspecifiedMatching MONDO:0017373 poliomyelitis skos:exactMatch NCIT:C35550 Acute Poliomyelitis semapv:UnspecifiedMatching MONDO:0017373 poliomyelitis skos:exactMatch Orphanet:2912 Poliomyelitis semapv:UnspecifiedMatching MONDO:0017373 poliomyelitis skos:exactMatch SCTID:398102009 semapv:UnspecifiedMatching MONDO:0017373 poliomyelitis skos:exactMatch UMLS:C0032371 semapv:UnspecifiedMatching MONDO:0017373 poliomyelitis skos:exactMatch icd11.foundation:588527933 Acute poliomyelitis semapv:UnspecifiedMatching MONDO:0017373 poliomyelitis skos:exactMatch mesh:D011051 semapv:UnspecifiedMatching MONDO:0017375 congenital enterovirus infection skos:exactMatch MEDGEN:904399 semapv:UnspecifiedMatching MONDO:0017375 congenital enterovirus infection skos:exactMatch Orphanet:292 Congenital enterovirus infection semapv:UnspecifiedMatching MONDO:0017375 congenital enterovirus infection skos:exactMatch SCTID:716865000 semapv:UnspecifiedMatching MONDO:0017375 congenital enterovirus infection skos:exactMatch UMLS:C4274223 semapv:UnspecifiedMatching MONDO:0017375 congenital enterovirus infection skos:exactMatch icd11.foundation:1981771784 Congenital enterovirus infection semapv:UnspecifiedMatching MONDO:0017376 reactive arthritis skos:exactMatch DOID:6196 reactive arthritis semapv:UnspecifiedMatching MONDO:0017376 reactive arthritis skos:exactMatch EFO:0007460 semapv:UnspecifiedMatching MONDO:0017376 reactive arthritis skos:exactMatch MEDGEN:39047 semapv:UnspecifiedMatching MONDO:0017376 reactive arthritis skos:exactMatch NCIT:C128332 Reactive Arthritis semapv:UnspecifiedMatching MONDO:0017376 reactive arthritis skos:exactMatch Orphanet:29207 Reactive arthritis semapv:UnspecifiedMatching MONDO:0017376 reactive arthritis skos:exactMatch SCTID:129133005 semapv:UnspecifiedMatching MONDO:0017376 reactive arthritis skos:exactMatch UMLS:C0085435 semapv:UnspecifiedMatching MONDO:0017376 reactive arthritis skos:exactMatch mesh:D016918 semapv:UnspecifiedMatching MONDO:0017377 preaxial polydactyly-colobomata-intellectual disability syndrome skos:exactMatch MEDGEN:444110 semapv:UnspecifiedMatching MONDO:0017377 preaxial polydactyly-colobomata-intellectual disability syndrome skos:exactMatch Orphanet:2921 Preaxial polydactyly-colobomata-intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0017377 preaxial polydactyly-colobomata-intellectual disability syndrome skos:exactMatch SCTID:733088002 semapv:UnspecifiedMatching MONDO:0017377 preaxial polydactyly-colobomata-intellectual disability syndrome skos:exactMatch UMLS:C2931655 semapv:UnspecifiedMatching MONDO:0017377 preaxial polydactyly-colobomata-intellectual disability syndrome skos:exactMatch mesh:C537888 semapv:UnspecifiedMatching MONDO:0017378 obsolete polymicrogyria-turricephaly-hypogenitalism syndrome skos:exactMatch Orphanet:2925 OBSOLETE: Polymicrogyria-turricephaly-hypogenitalism syndrome semapv:UnspecifiedMatching MONDO:0017379 polyneuropathy-intellectual disability-acromicria-premature menopause syndrome skos:exactMatch MEDGEN:1665486 semapv:UnspecifiedMatching MONDO:0017379 polyneuropathy-intellectual disability-acromicria-premature menopause syndrome skos:exactMatch Orphanet:2928 Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome semapv:UnspecifiedMatching MONDO:0017379 polyneuropathy-intellectual disability-acromicria-premature menopause syndrome skos:exactMatch UMLS:C4749397 semapv:UnspecifiedMatching MONDO:0017380 juvenile polyposis syndrome skos:exactMatch MEDGEN:87518 semapv:UnspecifiedMatching MONDO:0017380 juvenile polyposis syndrome skos:exactMatch NCIT:C7754 Juvenile Polyposis Syndrome semapv:UnspecifiedMatching MONDO:0017380 juvenile polyposis syndrome skos:exactMatch OMIM:174900 juvenile polyposis syndrome semapv:UnspecifiedMatching MONDO:0017380 juvenile polyposis syndrome skos:exactMatch Orphanet:2929 Juvenile polyposis syndrome semapv:UnspecifiedMatching MONDO:0017380 juvenile polyposis syndrome skos:exactMatch SCTID:9273005 semapv:UnspecifiedMatching MONDO:0017380 juvenile polyposis syndrome skos:exactMatch UMLS:C0345893 semapv:UnspecifiedMatching MONDO:0017380 juvenile polyposis syndrome skos:exactMatch icd11.foundation:1020795563 Juvenile gastrointestinal polyposis semapv:UnspecifiedMatching MONDO:0017381 congenital herpes simplex virus infection skos:exactMatch MEDGEN:82910 semapv:UnspecifiedMatching MONDO:0017381 congenital herpes simplex virus infection skos:exactMatch Orphanet:293 Congenital herpes simplex virus infection semapv:UnspecifiedMatching MONDO:0017381 congenital herpes simplex virus infection skos:exactMatch SCTID:91576008 semapv:UnspecifiedMatching MONDO:0017381 congenital herpes simplex virus infection skos:exactMatch UMLS:C0276225 semapv:UnspecifiedMatching MONDO:0017382 familial clubfoot due to 5q31 microdeletion skos:exactMatch MEDGEN:1826065 semapv:UnspecifiedMatching MONDO:0017382 familial clubfoot due to 5q31 microdeletion skos:exactMatch Orphanet:293144 Familial clubfoot due to 5q31 microdeletion semapv:UnspecifiedMatching MONDO:0017382 familial clubfoot due to 5q31 microdeletion skos:exactMatch UMLS:C5679944 semapv:UnspecifiedMatching MONDO:0017383 familial clubfoot due to PITX1 point mutation skos:exactMatch MEDGEN:1814442 semapv:UnspecifiedMatching MONDO:0017383 familial clubfoot due to PITX1 point mutation skos:exactMatch Orphanet:293150 Familial clubfoot due to PITX1 point mutation semapv:UnspecifiedMatching MONDO:0017383 familial clubfoot due to PITX1 point mutation skos:exactMatch UMLS:C5679943 semapv:UnspecifiedMatching MONDO:0017384 acute generalized exanthematous pustulosis skos:exactMatch MEDGEN:209091 semapv:UnspecifiedMatching MONDO:0017384 acute generalized exanthematous pustulosis skos:exactMatch NCIT:C112122 Acute Generalized Exanthematous Pustulosis semapv:UnspecifiedMatching MONDO:0017384 acute generalized exanthematous pustulosis skos:exactMatch Orphanet:293173 Acute generalized exanthematous pustulosis semapv:UnspecifiedMatching MONDO:0017384 acute generalized exanthematous pustulosis skos:exactMatch SCTID:702617007 semapv:UnspecifiedMatching MONDO:0017384 acute generalized exanthematous pustulosis skos:exactMatch UMLS:C0877055 semapv:UnspecifiedMatching MONDO:0017384 acute generalized exanthematous pustulosis skos:exactMatch mesh:D056150 semapv:UnspecifiedMatching MONDO:0017385 malignant migrating partial seizures of infancy skos:exactMatch NCIT:C125387 Migrating Partial Seizures in Infancy semapv:UnspecifiedMatching MONDO:0017385 malignant migrating partial seizures of infancy skos:exactMatch Orphanet:293181 Epilepsy of infancy with migrating focal seizures semapv:UnspecifiedMatching MONDO:0017386 pleomorphic rhabdomyosarcoma skos:exactMatch DOID:3250 pleomorphic rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0017386 pleomorphic rhabdomyosarcoma skos:exactMatch MEDGEN:137770 semapv:UnspecifiedMatching MONDO:0017386 pleomorphic rhabdomyosarcoma skos:exactMatch NCIT:C4258 Pleomorphic Rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0017386 pleomorphic rhabdomyosarcoma skos:exactMatch Orphanet:293199 Pleomorphic rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0017386 pleomorphic rhabdomyosarcoma skos:exactMatch SCTID:404054005 semapv:UnspecifiedMatching MONDO:0017386 pleomorphic rhabdomyosarcoma skos:exactMatch UMLS:C0334480 semapv:UnspecifiedMatching MONDO:0017387 epithelioid sarcoma skos:exactMatch DOID:6193 epithelioid sarcoma semapv:UnspecifiedMatching MONDO:0017387 epithelioid sarcoma skos:exactMatch MEDGEN:104753 semapv:UnspecifiedMatching MONDO:0017387 epithelioid sarcoma skos:exactMatch NCIT:C3714 Epithelioid Sarcoma semapv:UnspecifiedMatching MONDO:0017387 epithelioid sarcoma skos:exactMatch Orphanet:293202 Epithelioid sarcoma semapv:UnspecifiedMatching MONDO:0017387 epithelioid sarcoma skos:exactMatch UMLS:C0205944 semapv:UnspecifiedMatching MONDO:0017388 celiac trunk compression syndrome skos:exactMatch DOID:9892 median arcuate ligament syndrome semapv:UnspecifiedMatching MONDO:0017388 celiac trunk compression syndrome skos:exactMatch ICD10CM:I77.4 Celiac artery compression syndrome semapv:UnspecifiedMatching MONDO:0017388 celiac trunk compression syndrome skos:exactMatch MEDGEN:349361 semapv:UnspecifiedMatching MONDO:0017388 celiac trunk compression syndrome skos:exactMatch OMIM:116870 celiac artery stenosis from compression by median arcuate ligament of diaphragm semapv:UnspecifiedMatching MONDO:0017388 celiac trunk compression syndrome skos:exactMatch Orphanet:293208 Celiac artery compression syndrome semapv:UnspecifiedMatching MONDO:0017388 celiac trunk compression syndrome skos:exactMatch SCTID:9250002 semapv:UnspecifiedMatching MONDO:0017388 celiac trunk compression syndrome skos:exactMatch UMLS:C1861783 semapv:UnspecifiedMatching MONDO:0017388 celiac trunk compression syndrome skos:exactMatch icd11.foundation:1666443751 Coeliac artery compression syndrome semapv:UnspecifiedMatching MONDO:0017389 tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria skos:exactMatch MEDGEN:1842546 semapv:UnspecifiedMatching MONDO:0017389 tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria skos:exactMatch Orphanet:293284 Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria semapv:UnspecifiedMatching MONDO:0017389 tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria skos:exactMatch UMLS:C5679945 semapv:UnspecifiedMatching MONDO:0017390 obsolete methylmalonic acidemia without homocystinuria skos:exactMatch Orphanet:293355 Methylmalonic acidemia without homocystinuria semapv:UnspecifiedMatching MONDO:0017391 Grayson-Wilbrandt corneal dystrophy skos:exactMatch MEDGEN:931248 semapv:UnspecifiedMatching MONDO:0017391 Grayson-Wilbrandt corneal dystrophy skos:exactMatch Orphanet:293375 Grayson-Wilbrandt corneal dystrophy semapv:UnspecifiedMatching MONDO:0017391 Grayson-Wilbrandt corneal dystrophy skos:exactMatch SCTID:717286002 semapv:UnspecifiedMatching MONDO:0017391 Grayson-Wilbrandt corneal dystrophy skos:exactMatch UMLS:C4305579 semapv:UnspecifiedMatching MONDO:0017391 Grayson-Wilbrandt corneal dystrophy skos:exactMatch icd11.foundation:1667542240 Grayson-Wilbrandt corneal dystrophy semapv:UnspecifiedMatching MONDO:0017392 pre-descemet corneal dystrophy skos:exactMatch MEDGEN:573065 semapv:UnspecifiedMatching MONDO:0017392 pre-descemet corneal dystrophy skos:exactMatch Orphanet:293462 Pre-Descemet corneal dystrophy semapv:UnspecifiedMatching MONDO:0017392 pre-descemet corneal dystrophy skos:exactMatch SCTID:231934009 semapv:UnspecifiedMatching MONDO:0017392 pre-descemet corneal dystrophy skos:exactMatch UMLS:C0339282 semapv:UnspecifiedMatching MONDO:0017392 pre-descemet corneal dystrophy skos:exactMatch icd11.foundation:2027634766 Pre-Descemet corneal dystrophy semapv:UnspecifiedMatching MONDO:0017393 blepharophimosis - intellectual disability syndrome skos:exactMatch MEDGEN:1698793 semapv:UnspecifiedMatching MONDO:0017393 blepharophimosis - intellectual disability syndrome skos:exactMatch Orphanet:293642 Blepharophimosis-intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0017393 blepharophimosis - intellectual disability syndrome skos:exactMatch UMLS:C5229849 semapv:UnspecifiedMatching MONDO:0017394 ketamine-induced biliary dilatation skos:exactMatch MEDGEN:1380193 semapv:UnspecifiedMatching MONDO:0017394 ketamine-induced biliary dilatation skos:exactMatch Orphanet:293807 Ketamine-induced biliary dilatation semapv:UnspecifiedMatching MONDO:0017394 ketamine-induced biliary dilatation skos:exactMatch SCTID:726613003 semapv:UnspecifiedMatching MONDO:0017394 ketamine-induced biliary dilatation skos:exactMatch UMLS:C4512018 semapv:UnspecifiedMatching MONDO:0017395 fixed pigmented erythema skos:exactMatch MEDGEN:526203 semapv:UnspecifiedMatching MONDO:0017395 fixed pigmented erythema skos:exactMatch Orphanet:293812 Fixed drug eruption semapv:UnspecifiedMatching MONDO:0017395 fixed pigmented erythema skos:exactMatch SCTID:73692007 semapv:UnspecifiedMatching MONDO:0017395 fixed pigmented erythema skos:exactMatch UMLS:C0221242 semapv:UnspecifiedMatching MONDO:0017395 fixed pigmented erythema skos:exactMatch icd11.foundation:20014644 Fixed drug eruption semapv:UnspecifiedMatching MONDO:0017396 toxic dermatosis skos:exactMatch MEDGEN:1842825 semapv:UnspecifiedMatching MONDO:0017396 toxic dermatosis skos:exactMatch Orphanet:293815 Toxic dermatosis semapv:UnspecifiedMatching MONDO:0017396 toxic dermatosis skos:exactMatch UMLS:C5680999 semapv:UnspecifiedMatching MONDO:0017397 obsolete constitutional dyserythropoietic anemia skos:exactMatch Orphanet:293830 Constitutional dyserythropoietic anemia semapv:UnspecifiedMatching MONDO:0017398 3MC syndrome skos:exactMatch DOID:0060225 3MC syndrome semapv:UnspecifiedMatching MONDO:0017398 3MC syndrome skos:exactMatch MEDGEN:929529 semapv:UnspecifiedMatching MONDO:0017398 3MC syndrome skos:exactMatch OMIMPS:257920 3MC syndrome semapv:UnspecifiedMatching MONDO:0017398 3MC syndrome skos:exactMatch Orphanet:293843 3MC syndrome semapv:UnspecifiedMatching MONDO:0017398 3MC syndrome skos:exactMatch SCTID:720756005 semapv:UnspecifiedMatching MONDO:0017398 3MC syndrome skos:exactMatch UMLS:C4303860 semapv:UnspecifiedMatching MONDO:0017398 3MC syndrome skos:exactMatch icd11.foundation:1294329406 3MC syndrome semapv:UnspecifiedMatching MONDO:0017399 frontotemporal dementia, right temporal atrophy variant skos:exactMatch SCTID:716667005 semapv:UnspecifiedMatching MONDO:0017400 hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome skos:exactMatch MEDGEN:411637 semapv:UnspecifiedMatching MONDO:0017400 hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome skos:exactMatch OMIM:615710 mitchell-riley syndrome semapv:UnspecifiedMatching MONDO:0017400 hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome skos:exactMatch Orphanet:293864 Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome semapv:UnspecifiedMatching MONDO:0017400 hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome skos:exactMatch UMLS:C2748662 semapv:UnspecifiedMatching MONDO:0017401 familial isolated arrhythmogenic ventricular dysplasia, left dominant form skos:exactMatch DOID:0070534 arrhythmogenic left ventricular cardiomyopathy semapv:UnspecifiedMatching MONDO:0017401 familial isolated arrhythmogenic ventricular dysplasia, left dominant form skos:exactMatch MEDGEN:1863454 semapv:UnspecifiedMatching MONDO:0017401 familial isolated arrhythmogenic ventricular dysplasia, left dominant form skos:exactMatch Orphanet:293888 Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant semapv:UnspecifiedMatching MONDO:0017401 familial isolated arrhythmogenic ventricular dysplasia, left dominant form skos:exactMatch UMLS:C5925017 semapv:UnspecifiedMatching MONDO:0017402 familial isolated arrhythmogenic ventricular dysplasia, biventricular form skos:exactMatch DOID:0070535 arrhythmogenic biventricular cardiomyopathy semapv:UnspecifiedMatching MONDO:0017402 familial isolated arrhythmogenic ventricular dysplasia, biventricular form skos:exactMatch MEDGEN:1864265 semapv:UnspecifiedMatching MONDO:0017402 familial isolated arrhythmogenic ventricular dysplasia, biventricular form skos:exactMatch Orphanet:293899 Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant semapv:UnspecifiedMatching MONDO:0017402 familial isolated arrhythmogenic ventricular dysplasia, biventricular form skos:exactMatch UMLS:C5925016 semapv:UnspecifiedMatching MONDO:0017403 familial isolated arrhythmogenic ventricular dysplasia, right dominant form skos:exactMatch MEDGEN:1864032 semapv:UnspecifiedMatching MONDO:0017403 familial isolated arrhythmogenic ventricular dysplasia, right dominant form skos:exactMatch Orphanet:293910 Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant semapv:UnspecifiedMatching MONDO:0017403 familial isolated arrhythmogenic ventricular dysplasia, right dominant form skos:exactMatch UMLS:C5925015 semapv:UnspecifiedMatching MONDO:0017404 distal Xq28 microduplication syndrome skos:exactMatch MEDGEN:1655645 semapv:UnspecifiedMatching MONDO:0017404 distal Xq28 microduplication syndrome skos:exactMatch Orphanet:293939 Distal Xq28 microduplication syndrome semapv:UnspecifiedMatching MONDO:0017404 distal Xq28 microduplication syndrome skos:exactMatch UMLS:C4751127 semapv:UnspecifiedMatching MONDO:0017405 1p21.3 microdeletion syndrome skos:exactMatch MEDGEN:930247 semapv:UnspecifiedMatching MONDO:0017405 1p21.3 microdeletion syndrome skos:exactMatch Orphanet:293948 1p21.3 microdeletion syndrome semapv:UnspecifiedMatching MONDO:0017405 1p21.3 microdeletion syndrome skos:exactMatch SCTID:719600006 semapv:UnspecifiedMatching MONDO:0017405 1p21.3 microdeletion syndrome skos:exactMatch UMLS:C4304578 semapv:UnspecifiedMatching MONDO:0017406 hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome skos:exactMatch MEDGEN:1663043 semapv:UnspecifiedMatching MONDO:0017406 hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome skos:exactMatch Orphanet:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome semapv:UnspecifiedMatching MONDO:0017406 hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome skos:exactMatch UMLS:C4751123 semapv:UnspecifiedMatching MONDO:0017407 deficiency in anterior pituitary function - variable immunodeficiency syndrome skos:exactMatch MEDGEN:1666981 semapv:UnspecifiedMatching MONDO:0017407 deficiency in anterior pituitary function - variable immunodeficiency syndrome skos:exactMatch Orphanet:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome semapv:UnspecifiedMatching MONDO:0017407 deficiency in anterior pituitary function - variable immunodeficiency syndrome skos:exactMatch UMLS:C4751122 semapv:UnspecifiedMatching MONDO:0017408 rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome skos:exactMatch MEDGEN:1670711 semapv:UnspecifiedMatching MONDO:0017408 rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome skos:exactMatch NCIT:C121944 Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation semapv:UnspecifiedMatching MONDO:0017408 rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome skos:exactMatch Orphanet:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome semapv:UnspecifiedMatching MONDO:0017408 rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome skos:exactMatch UMLS:C4751121 semapv:UnspecifiedMatching MONDO:0017409 fetal cytomegalovirus syndrome skos:exactMatch MEDGEN:578789 semapv:UnspecifiedMatching MONDO:0017409 fetal cytomegalovirus syndrome skos:exactMatch NCIT:C122427 Congenital Cytomegaloviral Infection semapv:UnspecifiedMatching MONDO:0017409 fetal cytomegalovirus syndrome skos:exactMatch Orphanet:294 Fetal cytomegalovirus syndrome semapv:UnspecifiedMatching MONDO:0017409 fetal cytomegalovirus syndrome skos:exactMatch SCTID:276701009 semapv:UnspecifiedMatching MONDO:0017409 fetal cytomegalovirus syndrome skos:exactMatch UMLS:C0349499 semapv:UnspecifiedMatching MONDO:0017409 fetal cytomegalovirus syndrome skos:exactMatch icd11.foundation:1515465998 Congenital cytomegalovirus infection semapv:UnspecifiedMatching MONDO:0017410 porencephaly skos:exactMatch DOID:0060263 porencephaly semapv:UnspecifiedMatching MONDO:0017410 porencephaly skos:exactMatch MEDGEN:901502 semapv:UnspecifiedMatching MONDO:0017410 porencephaly skos:exactMatch Orphanet:2940 Porencephaly semapv:UnspecifiedMatching MONDO:0017410 porencephaly skos:exactMatch UMLS:C4082173 semapv:UnspecifiedMatching MONDO:0017410 porencephaly skos:exactMatch icd11.foundation:137059367 Porencephaly semapv:UnspecifiedMatching MONDO:0017410 porencephaly skos:exactMatch mesh:D065708 semapv:UnspecifiedMatching MONDO:0017411 neonatal inflammatory skin and bowel disease skos:exactMatch MEDGEN:1648296 semapv:UnspecifiedMatching MONDO:0017411 neonatal inflammatory skin and bowel disease skos:exactMatch OMIMPS:614328 semapv:UnspecifiedMatching MONDO:0017411 neonatal inflammatory skin and bowel disease skos:exactMatch Orphanet:294023 Neonatal inflammatory skin and bowel disease semapv:UnspecifiedMatching MONDO:0017411 neonatal inflammatory skin and bowel disease skos:exactMatch UMLS:C4751120 semapv:UnspecifiedMatching MONDO:0017414 obsolete rare nevus skos:exactMatch Orphanet:294057 Rare nevus semapv:UnspecifiedMatching MONDO:0017415 multiple pterygium syndrome skos:exactMatch DOID:0080110 contractures, pterygia, and spondylocarpotarsal fusion syndrome semapv:UnspecifiedMatching MONDO:0017415 multiple pterygium syndrome skos:exactMatch MEDGEN:1852087 semapv:UnspecifiedMatching MONDO:0017415 multiple pterygium syndrome skos:exactMatch Orphanet:294060 Multiple pterygium syndrome semapv:UnspecifiedMatching MONDO:0017415 multiple pterygium syndrome skos:exactMatch SCTID:205819008 semapv:UnspecifiedMatching MONDO:0017415 multiple pterygium syndrome skos:exactMatch UMLS:C5848053 semapv:UnspecifiedMatching MONDO:0017415 multiple pterygium syndrome skos:exactMatch icd11.foundation:834369371 Multiple pterygium syndrome semapv:UnspecifiedMatching MONDO:0017415 multiple pterygium syndrome skos:exactMatch mesh:C537377 semapv:UnspecifiedMatching MONDO:0017416 postpoliomyelitis syndrome skos:exactMatch DOID:4952 postpoliomyelitis syndrome semapv:UnspecifiedMatching MONDO:0017416 postpoliomyelitis syndrome skos:exactMatch EFO:0007454 semapv:UnspecifiedMatching MONDO:0017416 postpoliomyelitis syndrome skos:exactMatch ICD10CM:G14 Postpolio syndrome semapv:UnspecifiedMatching MONDO:0017416 postpoliomyelitis syndrome skos:exactMatch MEDGEN:36363 semapv:UnspecifiedMatching MONDO:0017416 postpoliomyelitis syndrome skos:exactMatch Orphanet:2942 Postpoliomyelitis syndrome semapv:UnspecifiedMatching MONDO:0017416 postpoliomyelitis syndrome skos:exactMatch SCTID:31097004 semapv:UnspecifiedMatching MONDO:0017416 postpoliomyelitis syndrome skos:exactMatch UMLS:C0080040 semapv:UnspecifiedMatching MONDO:0017416 postpoliomyelitis syndrome skos:exactMatch icd11.foundation:2018885243 Post polio progressive muscular atrophy semapv:UnspecifiedMatching MONDO:0017416 postpoliomyelitis syndrome skos:exactMatch mesh:D016262 semapv:UnspecifiedMatching MONDO:0017417 renal-hepatic-pancreatic dysplasia skos:exactMatch DOID:0060259 renal-hepatic-pancreatic dysplasia semapv:UnspecifiedMatching MONDO:0017417 renal-hepatic-pancreatic dysplasia skos:exactMatch MEDGEN:382215 semapv:UnspecifiedMatching MONDO:0017417 renal-hepatic-pancreatic dysplasia skos:exactMatch OMIMPS:208540 Renal-hepatic-pancreatic dysplasia semapv:UnspecifiedMatching MONDO:0017417 renal-hepatic-pancreatic dysplasia skos:exactMatch Orphanet:294415 Renal-hepatic-pancreatic dysplasia semapv:UnspecifiedMatching MONDO:0017417 renal-hepatic-pancreatic dysplasia skos:exactMatch SCTID:763891005 semapv:UnspecifiedMatching MONDO:0017417 renal-hepatic-pancreatic dysplasia skos:exactMatch UMLS:C2673883 semapv:UnspecifiedMatching MONDO:0017418 chronic intestinal failure skos:exactMatch MEDGEN:909276 semapv:UnspecifiedMatching MONDO:0017418 chronic intestinal failure skos:exactMatch Orphanet:294422 Chronic intestinal failure semapv:UnspecifiedMatching MONDO:0017418 chronic intestinal failure skos:exactMatch SCTID:716665002 semapv:UnspecifiedMatching MONDO:0017418 chronic intestinal failure skos:exactMatch UMLS:C4274352 semapv:UnspecifiedMatching MONDO:0017419 non-syndromic amelia skos:exactMatch MEDGEN:8014 semapv:UnspecifiedMatching MONDO:0017419 non-syndromic amelia skos:exactMatch NCIT:C34370 Amelia semapv:UnspecifiedMatching MONDO:0017419 non-syndromic amelia skos:exactMatch Orphanet:294925 Non-syndromic amelia semapv:UnspecifiedMatching MONDO:0017419 non-syndromic amelia skos:exactMatch SCTID:62588002 semapv:UnspecifiedMatching MONDO:0017419 non-syndromic amelia skos:exactMatch UMLS:C0002447 semapv:UnspecifiedMatching MONDO:0017420 obsolete intercalary limb defects skos:exactMatch Orphanet:294927 Non-syndromic intercalary limb defects semapv:UnspecifiedMatching MONDO:0017421 obsolete non-syndromic terminal limb defects skos:exactMatch Orphanet:294929 OBSOLETE: Terminal limb defects semapv:UnspecifiedMatching MONDO:0017422 obsolete adactyly of hand skos:exactMatch Orphanet:294931 OBSOLETE: Adactyly of hand semapv:UnspecifiedMatching MONDO:0017423 obsolete split hand or/and split foot malformation skos:exactMatch Orphanet:294935 OBSOLETE: Split hand or/and split foot malformation semapv:UnspecifiedMatching MONDO:0017425 preaxial polydactyly of fingers skos:exactMatch MEDGEN:87498 semapv:UnspecifiedMatching MONDO:0017425 preaxial polydactyly of fingers skos:exactMatch OMIMPS:174400 Polydactyly, preaxial semapv:UnspecifiedMatching MONDO:0017425 preaxial polydactyly of fingers skos:exactMatch UMLS:C0345354 semapv:UnspecifiedMatching MONDO:0017425 preaxial polydactyly of fingers skos:exactMatch icd11.foundation:1066753144 Preaxial polydactyly of fingers semapv:UnspecifiedMatching MONDO:0017426 postaxial polydactyly of fingers skos:exactMatch MEDGEN:609221 semapv:UnspecifiedMatching MONDO:0017426 postaxial polydactyly of fingers skos:exactMatch SCTID:205131007 semapv:UnspecifiedMatching MONDO:0017426 postaxial polydactyly of fingers skos:exactMatch UMLS:C0431904 semapv:UnspecifiedMatching MONDO:0017426 postaxial polydactyly of fingers skos:exactMatch icd11.foundation:1146378807 Postaxial polydactyly of fingers semapv:UnspecifiedMatching MONDO:0017427 congenital deformities of limbs skos:exactMatch MEDGEN:60222 semapv:UnspecifiedMatching MONDO:0017427 congenital deformities of limbs skos:exactMatch Orphanet:294944 Congenital deformities of limbs semapv:UnspecifiedMatching MONDO:0017427 congenital deformities of limbs skos:exactMatch UMLS:C0206762 semapv:UnspecifiedMatching MONDO:0017428 obsolete congenital deformities of fingers skos:exactMatch Orphanet:294947 Congenital deformities of fingers semapv:UnspecifiedMatching MONDO:0017429 obsolete joint formation defects skos:exactMatch Orphanet:294949 Non-syndromic joint formation defects semapv:UnspecifiedMatching MONDO:0017429 obsolete joint formation defects skos:exactMatch icd11.foundation:1429730271 Joint formation defects semapv:UnspecifiedMatching MONDO:0017430 obsolete non-syndromic congenital joint dislocations skos:exactMatch Orphanet:294951 Congenital joint dislocations semapv:UnspecifiedMatching MONDO:0017431 obsolete non-syndromic limb overgrowth skos:exactMatch Orphanet:294953 Non-syndromic limb overgrowth semapv:UnspecifiedMatching MONDO:0017432 obsolete syndrome with limb reduction defects skos:exactMatch Orphanet:294955 Syndrome with limb reduction defects semapv:UnspecifiedMatching MONDO:0017433 obsolete dysostosis with combined reduction defects of upper and lower limbs skos:exactMatch Orphanet:294957 Dysostosis with combined reduction defects of upper and lower limbs semapv:UnspecifiedMatching MONDO:0017433 obsolete dysostosis with combined reduction defects of upper and lower limbs skos:exactMatch icd11.foundation:1211657447 Combined reduction defects of upper and lower limbs semapv:UnspecifiedMatching MONDO:0017434 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy skos:exactMatch Orphanet:294959 Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy semapv:UnspecifiedMatching MONDO:0017434 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy skos:exactMatch icd11.foundation:1911144861 Syndromes with limb duplication, polydactyly, syndactyly or triphalangism semapv:UnspecifiedMatching MONDO:0017435 popliteal pterygium syndrome skos:exactMatch DOID:0060055 popliteal pterygium syndrome semapv:UnspecifiedMatching MONDO:0017435 popliteal pterygium syndrome skos:exactMatch MEDGEN:78543 semapv:UnspecifiedMatching MONDO:0017435 popliteal pterygium syndrome skos:exactMatch NCIT:C118786 Autosomal Dominant Popliteal Pterygium Syndrome semapv:UnspecifiedMatching MONDO:0017435 popliteal pterygium syndrome skos:exactMatch Orphanet:294963 Popliteal pterygium syndrome semapv:UnspecifiedMatching MONDO:0017435 popliteal pterygium syndrome skos:exactMatch SCTID:66783006 semapv:UnspecifiedMatching MONDO:0017435 popliteal pterygium syndrome skos:exactMatch UMLS:C0265259 semapv:UnspecifiedMatching MONDO:0017435 popliteal pterygium syndrome skos:exactMatch icd11.foundation:543218573 Popliteal pterygium syndrome semapv:UnspecifiedMatching MONDO:0017435 popliteal pterygium syndrome skos:exactMatch mesh:C562509 semapv:UnspecifiedMatching MONDO:0017436 lethal congenital contracture syndrome skos:exactMatch DOID:0060558 lethal congenital contracture syndrome semapv:UnspecifiedMatching MONDO:0017436 lethal congenital contracture syndrome skos:exactMatch MEDGEN:1863860 semapv:UnspecifiedMatching MONDO:0017436 lethal congenital contracture syndrome skos:exactMatch OMIMPS:253310 Lethal congenital contracture syndrome semapv:UnspecifiedMatching MONDO:0017436 lethal congenital contracture syndrome skos:exactMatch Orphanet:294965 Lethal congenital contracture syndrome semapv:UnspecifiedMatching MONDO:0017436 lethal congenital contracture syndrome skos:exactMatch UMLS:C5848326 semapv:UnspecifiedMatching MONDO:0017436 lethal congenital contracture syndrome skos:exactMatch icd11.foundation:1866017256 Lethal congenital contracture syndrome semapv:UnspecifiedMatching MONDO:0017437 amelia of upper limb skos:exactMatch MEDGEN:539335 semapv:UnspecifiedMatching MONDO:0017437 amelia of upper limb skos:exactMatch Orphanet:294967 Isolated amelia of upper limb semapv:UnspecifiedMatching MONDO:0017437 amelia of upper limb skos:exactMatch SCTID:205306000 semapv:UnspecifiedMatching MONDO:0017437 amelia of upper limb skos:exactMatch UMLS:C0265570 semapv:UnspecifiedMatching MONDO:0017437 amelia of upper limb skos:exactMatch icd11.foundation:565435388 Amelia of upper limb semapv:UnspecifiedMatching MONDO:0017438 amelia of lower limb skos:exactMatch MEDGEN:539370 semapv:UnspecifiedMatching MONDO:0017438 amelia of lower limb skos:exactMatch Orphanet:294969 Isolated amelia of lower limb semapv:UnspecifiedMatching MONDO:0017438 amelia of lower limb skos:exactMatch SCTID:265798000 semapv:UnspecifiedMatching MONDO:0017438 amelia of lower limb skos:exactMatch UMLS:C0265621 semapv:UnspecifiedMatching MONDO:0017438 amelia of lower limb skos:exactMatch icd11.foundation:540310468 Amelia of lower limb semapv:UnspecifiedMatching MONDO:0017439 tetra-amelia skos:exactMatch MEDGEN:444004 semapv:UnspecifiedMatching MONDO:0017439 tetra-amelia skos:exactMatch Orphanet:294971 Isolated tetra-amelia semapv:UnspecifiedMatching MONDO:0017439 tetra-amelia skos:exactMatch SCTID:702313004 semapv:UnspecifiedMatching MONDO:0017439 tetra-amelia skos:exactMatch UMLS:C2931216 semapv:UnspecifiedMatching MONDO:0017439 tetra-amelia skos:exactMatch mesh:C536498 semapv:UnspecifiedMatching MONDO:0017440 humeral agenesis/hypoplasia skos:exactMatch MEDGEN:672328 semapv:UnspecifiedMatching MONDO:0017440 humeral agenesis/hypoplasia skos:exactMatch Orphanet:294973 Isolated humeral agenesis/hypoplasia semapv:UnspecifiedMatching MONDO:0017440 humeral agenesis/hypoplasia skos:exactMatch UMLS:C0685375 semapv:UnspecifiedMatching MONDO:0017440 humeral agenesis/hypoplasia skos:exactMatch icd11.foundation:1431381856 Humeral agenesis or hypoplasia semapv:UnspecifiedMatching MONDO:0017441 congenital absence of upper arm and forearm with hand present skos:exactMatch ICD10CM:Q71.1 Congenital absence of upper arm and forearm with hand present semapv:UnspecifiedMatching MONDO:0017441 congenital absence of upper arm and forearm with hand present skos:exactMatch MEDGEN:539337 semapv:UnspecifiedMatching MONDO:0017441 congenital absence of upper arm and forearm with hand present skos:exactMatch NCIT:C34928 Phocomelia semapv:UnspecifiedMatching MONDO:0017441 congenital absence of upper arm and forearm with hand present skos:exactMatch Orphanet:294975 Isolated absence of upper arm and forearm with hand present semapv:UnspecifiedMatching MONDO:0017441 congenital absence of upper arm and forearm with hand present skos:exactMatch SCTID:22841008 semapv:UnspecifiedMatching MONDO:0017441 congenital absence of upper arm and forearm with hand present skos:exactMatch UMLS:C0265574 semapv:UnspecifiedMatching MONDO:0017441 congenital absence of upper arm and forearm with hand present skos:exactMatch icd11.foundation:1157109358 Congenital absence of upper arm or forearm with hand present semapv:UnspecifiedMatching MONDO:0017442 congenital absence of thigh and lower leg with foot present skos:exactMatch ICD10CM:Q72.1 Congenital absence of thigh and lower leg with foot present semapv:UnspecifiedMatching MONDO:0017442 congenital absence of thigh and lower leg with foot present skos:exactMatch MEDGEN:539373 semapv:UnspecifiedMatching MONDO:0017442 congenital absence of thigh and lower leg with foot present skos:exactMatch Orphanet:294977 Isolated absence of thigh and lower leg with foot present semapv:UnspecifiedMatching MONDO:0017442 congenital absence of thigh and lower leg with foot present skos:exactMatch SCTID:55852007 semapv:UnspecifiedMatching MONDO:0017442 congenital absence of thigh and lower leg with foot present skos:exactMatch UMLS:C0265626 semapv:UnspecifiedMatching MONDO:0017442 congenital absence of thigh and lower leg with foot present skos:exactMatch icd11.foundation:1165997650 Congenital absence of thigh or lower leg with foot present semapv:UnspecifiedMatching MONDO:0017443 congenital absence of both forearm and hand skos:exactMatch ICD10CM:Q71.2 Congenital absence of both forearm and hand semapv:UnspecifiedMatching MONDO:0017443 congenital absence of both forearm and hand skos:exactMatch MEDGEN:727129 semapv:UnspecifiedMatching MONDO:0017443 congenital absence of both forearm and hand skos:exactMatch Orphanet:294979 Isolated absence of both forearm and hand semapv:UnspecifiedMatching MONDO:0017443 congenital absence of both forearm and hand skos:exactMatch UMLS:C1306663 semapv:UnspecifiedMatching MONDO:0017443 congenital absence of both forearm and hand skos:exactMatch icd11.foundation:810894993 Congenital absence of both forearm and hand semapv:UnspecifiedMatching MONDO:0017444 congenital absence of both lower leg and foot skos:exactMatch ICD10CM:Q72.2 Congenital absence of both lower leg and foot semapv:UnspecifiedMatching MONDO:0017444 congenital absence of both lower leg and foot skos:exactMatch MEDGEN:609276 semapv:UnspecifiedMatching MONDO:0017444 congenital absence of both lower leg and foot skos:exactMatch Orphanet:294981 Isolated absence of both lower leg and foot semapv:UnspecifiedMatching MONDO:0017444 congenital absence of both lower leg and foot skos:exactMatch SCTID:278532000 semapv:UnspecifiedMatching MONDO:0017444 congenital absence of both lower leg and foot skos:exactMatch UMLS:C0431991 semapv:UnspecifiedMatching MONDO:0017444 congenital absence of both lower leg and foot skos:exactMatch icd11.foundation:835905199 Congenital absence of both lower leg and foot semapv:UnspecifiedMatching MONDO:0017445 acheiria skos:exactMatch MEDGEN:488815 semapv:UnspecifiedMatching MONDO:0017445 acheiria skos:exactMatch Orphanet:294983 Isolated acheiria semapv:UnspecifiedMatching MONDO:0017445 acheiria skos:exactMatch SCTID:371199008 semapv:UnspecifiedMatching MONDO:0017445 acheiria skos:exactMatch UMLS:C0265594 semapv:UnspecifiedMatching MONDO:0017445 acheiria skos:exactMatch icd11.foundation:1428065029 Acheiria semapv:UnspecifiedMatching MONDO:0017446 apodia skos:exactMatch MEDGEN:488816 semapv:UnspecifiedMatching MONDO:0017446 apodia skos:exactMatch Orphanet:294986 Isolated apodia semapv:UnspecifiedMatching MONDO:0017446 apodia skos:exactMatch SCTID:371197005 semapv:UnspecifiedMatching MONDO:0017446 apodia skos:exactMatch UMLS:C0265624 semapv:UnspecifiedMatching MONDO:0017446 apodia skos:exactMatch icd11.foundation:1419324219 Apodia semapv:UnspecifiedMatching MONDO:0017447 obsolete congenital absence/hypoplasia of thumb skos:exactMatch Orphanet:294988 Isolated hypoplasia of thumb semapv:UnspecifiedMatching MONDO:0017448 obsolete congenital absence/hypoplasia of fingers excluding thumb skos:exactMatch Orphanet:294990 OBSOLETE: Congenital absence/hypoplasia of fingers excluding thumb semapv:UnspecifiedMatching MONDO:0017449 split hand skos:exactMatch MEDGEN:397570 semapv:UnspecifiedMatching MONDO:0017449 split hand skos:exactMatch UMLS:C2699510 semapv:UnspecifiedMatching MONDO:0017449 split hand skos:exactMatch icd11.foundation:924222970 Split hand semapv:UnspecifiedMatching MONDO:0017450 split foot skos:exactMatch ICD10CM:Q72.7 Split foot semapv:UnspecifiedMatching MONDO:0017450 split foot skos:exactMatch MEDGEN:140919 semapv:UnspecifiedMatching MONDO:0017450 split foot skos:exactMatch SCTID:205358006 semapv:UnspecifiedMatching MONDO:0017450 split foot skos:exactMatch UMLS:C0432028 semapv:UnspecifiedMatching MONDO:0017450 split foot skos:exactMatch icd11.foundation:1406855248 Split foot semapv:UnspecifiedMatching MONDO:0017452 non-syndromic brachydactyly of toes skos:exactMatch MEDGEN:609304 semapv:UnspecifiedMatching MONDO:0017452 non-syndromic brachydactyly of toes skos:exactMatch SCTID:205346006 semapv:UnspecifiedMatching MONDO:0017452 non-syndromic brachydactyly of toes skos:exactMatch UMLS:C0432029 semapv:UnspecifiedMatching MONDO:0017453 fetal parvovirus syndrome skos:exactMatch MEDGEN:443992 semapv:UnspecifiedMatching MONDO:0017453 fetal parvovirus syndrome skos:exactMatch Orphanet:295 Fetal parvovirus syndrome semapv:UnspecifiedMatching MONDO:0017453 fetal parvovirus syndrome skos:exactMatch SCTID:715197005 semapv:UnspecifiedMatching MONDO:0017453 fetal parvovirus syndrome skos:exactMatch UMLS:C2931167 semapv:UnspecifiedMatching MONDO:0017453 fetal parvovirus syndrome skos:exactMatch icd11.foundation:648536096 Congenital parvovirus syndrome semapv:UnspecifiedMatching MONDO:0017453 fetal parvovirus syndrome skos:exactMatch mesh:C536301 semapv:UnspecifiedMatching MONDO:0017454 triphalangeal thumb-polysyndactyly syndrome skos:exactMatch MEDGEN:1830424 semapv:UnspecifiedMatching MONDO:0017454 triphalangeal thumb-polysyndactyly syndrome skos:exactMatch OMIM:190605 triphalangeal thumb with polysyndactyly semapv:UnspecifiedMatching MONDO:0017454 triphalangeal thumb-polysyndactyly syndrome skos:exactMatch UMLS:C5779878 semapv:UnspecifiedMatching MONDO:0017455 hyperphalangy skos:exactMatch MEDGEN:1639275 semapv:UnspecifiedMatching MONDO:0017455 hyperphalangy skos:exactMatch Orphanet:295002 Isolated hyperphalangy semapv:UnspecifiedMatching MONDO:0017455 hyperphalangy skos:exactMatch SCTID:763535005 semapv:UnspecifiedMatching MONDO:0017455 hyperphalangy skos:exactMatch UMLS:C4706507 semapv:UnspecifiedMatching MONDO:0017455 hyperphalangy skos:exactMatch icd11.foundation:177215174 Hyperphalangy semapv:UnspecifiedMatching MONDO:0017456 central polydactyly of fingers skos:exactMatch MEDGEN:609220 semapv:UnspecifiedMatching MONDO:0017456 central polydactyly of fingers skos:exactMatch Orphanet:295004 Central polydactyly semapv:UnspecifiedMatching MONDO:0017456 central polydactyly of fingers skos:exactMatch SCTID:205130008 semapv:UnspecifiedMatching MONDO:0017456 central polydactyly of fingers skos:exactMatch UMLS:C0431903 semapv:UnspecifiedMatching MONDO:0017456 central polydactyly of fingers skos:exactMatch icd11.foundation:243366415 Central polydactyly of fingers semapv:UnspecifiedMatching MONDO:0017457 Preaxial polydactyly of toes skos:exactMatch MEDGEN:609309 semapv:UnspecifiedMatching MONDO:0017457 Preaxial polydactyly of toes skos:exactMatch SCTID:205132000 semapv:UnspecifiedMatching MONDO:0017457 Preaxial polydactyly of toes skos:exactMatch UMLS:C0432036 semapv:UnspecifiedMatching MONDO:0017457 Preaxial polydactyly of toes skos:exactMatch icd11.foundation:1685587490 Preaxial polydactyly of toes semapv:UnspecifiedMatching MONDO:0017458 obsolete postaxial polydactyly of toes skos:exactMatch Orphanet:295008 OBSOLETE: Postaxial polydactyly of toes semapv:UnspecifiedMatching MONDO:0017458 obsolete postaxial polydactyly of toes skos:exactMatch SCTID:205133005 semapv:UnspecifiedMatching MONDO:0017459 obsolete central polydactyly of toes skos:exactMatch Orphanet:295010 OBSOLETE: Central polydactyly of toes semapv:UnspecifiedMatching MONDO:0017459 obsolete central polydactyly of toes skos:exactMatch SCTID:253967005 semapv:UnspecifiedMatching MONDO:0017460 syndactyly type 6 skos:exactMatch MEDGEN:1635950 semapv:UnspecifiedMatching MONDO:0017460 syndactyly type 6 skos:exactMatch Orphanet:295012 Syndactyly type 6 semapv:UnspecifiedMatching MONDO:0017460 syndactyly type 6 skos:exactMatch SCTID:763624007 semapv:UnspecifiedMatching MONDO:0017460 syndactyly type 6 skos:exactMatch UMLS:C4706525 semapv:UnspecifiedMatching MONDO:0017460 syndactyly type 6 skos:exactMatch icd11.foundation:2105806379 Syndactyly type 6 semapv:UnspecifiedMatching MONDO:0017461 familial isolated clinodactyly of fingers skos:exactMatch MEDGEN:120550 semapv:UnspecifiedMatching MONDO:0017461 familial isolated clinodactyly of fingers skos:exactMatch Orphanet:295014 Familial isolated clinodactyly of fingers semapv:UnspecifiedMatching MONDO:0017461 familial isolated clinodactyly of fingers skos:exactMatch SCTID:763691008 semapv:UnspecifiedMatching MONDO:0017461 familial isolated clinodactyly of fingers skos:exactMatch UMLS:C0265610 semapv:UnspecifiedMatching MONDO:0017462 congenital pseudoarthrosis of the tibia skos:exactMatch MEDGEN:539398 semapv:UnspecifiedMatching MONDO:0017462 congenital pseudoarthrosis of the tibia skos:exactMatch NCIT:C132080 Congenital Pseudarthrosis of Tibia semapv:UnspecifiedMatching MONDO:0017462 congenital pseudoarthrosis of the tibia skos:exactMatch Orphanet:295018 Congenital pseudoarthrosis of the tibia semapv:UnspecifiedMatching MONDO:0017462 congenital pseudoarthrosis of the tibia skos:exactMatch SCTID:55379003 semapv:UnspecifiedMatching MONDO:0017462 congenital pseudoarthrosis of the tibia skos:exactMatch UMLS:C0265661 semapv:UnspecifiedMatching MONDO:0017463 congenital pseudoarthrosis of the femur skos:exactMatch MEDGEN:1843312 semapv:UnspecifiedMatching MONDO:0017463 congenital pseudoarthrosis of the femur skos:exactMatch Orphanet:295020 Congenital pseudoarthrosis of the femur semapv:UnspecifiedMatching MONDO:0017463 congenital pseudoarthrosis of the femur skos:exactMatch UMLS:C5679939 semapv:UnspecifiedMatching MONDO:0017464 congenital pseudoarthrosis of the fibula skos:exactMatch MEDGEN:1842656 semapv:UnspecifiedMatching MONDO:0017464 congenital pseudoarthrosis of the fibula skos:exactMatch Orphanet:295022 Congenital pseudoarthrosis of the fibula semapv:UnspecifiedMatching MONDO:0017464 congenital pseudoarthrosis of the fibula skos:exactMatch UMLS:C5679935 semapv:UnspecifiedMatching MONDO:0017465 congenital pseudoarthrosis of the radius skos:exactMatch MEDGEN:1842721 semapv:UnspecifiedMatching MONDO:0017465 congenital pseudoarthrosis of the radius skos:exactMatch Orphanet:295024 Congenital pseudoarthrosis of the radius semapv:UnspecifiedMatching MONDO:0017465 congenital pseudoarthrosis of the radius skos:exactMatch UMLS:C5679936 semapv:UnspecifiedMatching MONDO:0017466 congenital pseudoarthrosis of the ulna skos:exactMatch MEDGEN:1843296 semapv:UnspecifiedMatching MONDO:0017466 congenital pseudoarthrosis of the ulna skos:exactMatch Orphanet:295026 Congenital pseudoarthrosis of the ulna semapv:UnspecifiedMatching MONDO:0017466 congenital pseudoarthrosis of the ulna skos:exactMatch UMLS:C5679937 semapv:UnspecifiedMatching MONDO:0017467 tibio-fibular synostosis skos:exactMatch MEDGEN:1616659 semapv:UnspecifiedMatching MONDO:0017467 tibio-fibular synostosis skos:exactMatch Orphanet:295028 Isolated tibio-fibular synostosis semapv:UnspecifiedMatching MONDO:0017467 tibio-fibular synostosis skos:exactMatch SCTID:737581000 semapv:UnspecifiedMatching MONDO:0017467 tibio-fibular synostosis skos:exactMatch UMLS:C4545230 semapv:UnspecifiedMatching MONDO:0017467 tibio-fibular synostosis skos:exactMatch icd11.foundation:1756900121 Tibio-fibular synostosis semapv:UnspecifiedMatching MONDO:0017468 congenital shoulder dislocation skos:exactMatch MEDGEN:539331 semapv:UnspecifiedMatching MONDO:0017468 congenital shoulder dislocation skos:exactMatch Orphanet:295030 True congenital shoulder dislocation semapv:UnspecifiedMatching MONDO:0017468 congenital shoulder dislocation skos:exactMatch SCTID:23876003 semapv:UnspecifiedMatching MONDO:0017468 congenital shoulder dislocation skos:exactMatch UMLS:C0265562 semapv:UnspecifiedMatching MONDO:0017468 congenital shoulder dislocation skos:exactMatch icd11.foundation:1926945459 Congenital shoulder dislocation semapv:UnspecifiedMatching MONDO:0017469 congenital elbow dislocation skos:exactMatch MEDGEN:539330 semapv:UnspecifiedMatching MONDO:0017469 congenital elbow dislocation skos:exactMatch Orphanet:295032 Isolated congenital radial head dislocation semapv:UnspecifiedMatching MONDO:0017469 congenital elbow dislocation skos:exactMatch UMLS:C0265561 semapv:UnspecifiedMatching MONDO:0017469 congenital elbow dislocation skos:exactMatch icd11.foundation:1593186141 Congenital elbow dislocation semapv:UnspecifiedMatching MONDO:0017470 congenital knee dislocation skos:exactMatch MEDGEN:75582 semapv:UnspecifiedMatching MONDO:0017470 congenital knee dislocation skos:exactMatch Orphanet:295034 Congenital knee dislocation semapv:UnspecifiedMatching MONDO:0017470 congenital knee dislocation skos:exactMatch SCTID:59068006 semapv:UnspecifiedMatching MONDO:0017470 congenital knee dislocation skos:exactMatch UMLS:C0265669 semapv:UnspecifiedMatching MONDO:0017470 congenital knee dislocation skos:exactMatch icd11.foundation:1229590493 Congenital knee dislocation semapv:UnspecifiedMatching MONDO:0017471 congenital patella dislocation skos:exactMatch MEDGEN:91041 semapv:UnspecifiedMatching MONDO:0017471 congenital patella dislocation skos:exactMatch Orphanet:295036 Congenital patella dislocation semapv:UnspecifiedMatching MONDO:0017471 congenital patella dislocation skos:exactMatch SCTID:205067002 semapv:UnspecifiedMatching MONDO:0017471 congenital patella dislocation skos:exactMatch UMLS:C0345360 semapv:UnspecifiedMatching MONDO:0017471 congenital patella dislocation skos:exactMatch icd11.foundation:1383302301 Congenital patella dislocation semapv:UnspecifiedMatching MONDO:0017471 congenital patella dislocation skos:exactMatch mesh:C538081 semapv:UnspecifiedMatching MONDO:0017474 macrodactyly of fingers skos:exactMatch MEDGEN:107892 semapv:UnspecifiedMatching MONDO:0017474 macrodactyly of fingers skos:exactMatch Orphanet:295044 Macrodactyly of fingers semapv:UnspecifiedMatching MONDO:0017474 macrodactyly of fingers skos:exactMatch SCTID:297195000 semapv:UnspecifiedMatching MONDO:0017474 macrodactyly of fingers skos:exactMatch UMLS:C0574044 semapv:UnspecifiedMatching MONDO:0017474 macrodactyly of fingers skos:exactMatch icd11.foundation:1647254435 Macrodactyly of fingers semapv:UnspecifiedMatching MONDO:0017474 macrodactyly of fingers skos:exactMatch mesh:C537720 semapv:UnspecifiedMatching MONDO:0017475 macrodactyly of toes skos:exactMatch MEDGEN:510644 semapv:UnspecifiedMatching MONDO:0017475 macrodactyly of toes skos:exactMatch Orphanet:295047 Macrodactyly of toes semapv:UnspecifiedMatching MONDO:0017475 macrodactyly of toes skos:exactMatch UMLS:C0158768 semapv:UnspecifiedMatching MONDO:0017475 macrodactyly of toes skos:exactMatch icd11.foundation:1196147958 Macrodactyly of toes semapv:UnspecifiedMatching MONDO:0017475 macrodactyly of toes skos:exactMatch mesh:C537719 semapv:UnspecifiedMatching MONDO:0017476 upper limb hypertrophy skos:exactMatch MEDGEN:488921 semapv:UnspecifiedMatching MONDO:0017476 upper limb hypertrophy skos:exactMatch Orphanet:295049 Upper limb hypertrophy semapv:UnspecifiedMatching MONDO:0017476 upper limb hypertrophy skos:exactMatch UMLS:C0575518 semapv:UnspecifiedMatching MONDO:0017476 upper limb hypertrophy skos:exactMatch icd11.foundation:663591902 Upper limb hypertrophy semapv:UnspecifiedMatching MONDO:0017477 lower limb hypertrophy skos:exactMatch MEDGEN:451056 semapv:UnspecifiedMatching MONDO:0017477 lower limb hypertrophy skos:exactMatch Orphanet:295051 Lower limb hypertrophy semapv:UnspecifiedMatching MONDO:0017477 lower limb hypertrophy skos:exactMatch UMLS:C0431928 semapv:UnspecifiedMatching MONDO:0017477 lower limb hypertrophy skos:exactMatch icd11.foundation:601080430 Lower limb hypertrophy semapv:UnspecifiedMatching MONDO:0017478 amelia of upper limb, unilateral skos:exactMatch icd11.foundation:790781203 Amelia of upper limb, unilateral semapv:UnspecifiedMatching MONDO:0017479 amelia of upper limb, bilateral skos:exactMatch icd11.foundation:587439983 Amelia of upper limb, bilateral semapv:UnspecifiedMatching MONDO:0017480 amelia of lower limb, unilateral skos:exactMatch icd11.foundation:1342789404 Amelia of lower limb, unilateral semapv:UnspecifiedMatching MONDO:0017481 amelia of lower limb, bilateral skos:exactMatch MEDGEN:1775586 semapv:UnspecifiedMatching MONDO:0017481 amelia of lower limb, bilateral skos:exactMatch UMLS:C2910294 semapv:UnspecifiedMatching MONDO:0017481 amelia of lower limb, bilateral skos:exactMatch icd11.foundation:1627185647 Amelia of lower limb, bilateral semapv:UnspecifiedMatching MONDO:0017486 radial hemimelia, unilateral skos:exactMatch icd11.foundation:1956537587 Radial hemimelia, unilateral semapv:UnspecifiedMatching MONDO:0017487 radial hemimelia, bilateral skos:exactMatch icd11.foundation:1701238542 Radial hemimelia, bilateral semapv:UnspecifiedMatching MONDO:0017488 ulnar hemimelia, bilateral skos:exactMatch icd11.foundation:837973744 Ulnar hemimelia, bilateral semapv:UnspecifiedMatching MONDO:0017489 ulnar hemimelia, unilateral skos:exactMatch icd11.foundation:1826480139 Ulnar hemimelia, unilateral semapv:UnspecifiedMatching MONDO:0017490 tibial hemimelia, unilateral skos:exactMatch icd11.foundation:863808263 Tibial hemimelia, unilateral semapv:UnspecifiedMatching MONDO:0017491 tibial hemimelia, bilateral skos:exactMatch MEDGEN:1776601 semapv:UnspecifiedMatching MONDO:0017491 tibial hemimelia, bilateral skos:exactMatch UMLS:C5438440 semapv:UnspecifiedMatching MONDO:0017491 tibial hemimelia, bilateral skos:exactMatch icd11.foundation:1562926182 Tibial hemimelia, bilateral semapv:UnspecifiedMatching MONDO:0017492 fibular hemimelia, unilateral skos:exactMatch icd11.foundation:1359584794 Fibular hemimelia, unilateral semapv:UnspecifiedMatching MONDO:0017493 fibular hemimelia, bilateral skos:exactMatch icd11.foundation:1479927692 Fibular hemimelia, bilateral semapv:UnspecifiedMatching MONDO:0017494 obsolete congenital absence of upper arm and forearm with hand present, unilateral skos:exactMatch Orphanet:295085 OBSOLETE: Congenital absence of upper arm and forearm with hand present, unilateral semapv:UnspecifiedMatching MONDO:0017495 obsolete congenital absence of upper arm and forearm with hand present, bilateral skos:exactMatch ICD10CM:Q71.13 Congenital absence of upper arm and forearm with hand present, bilateral semapv:UnspecifiedMatching MONDO:0017495 obsolete congenital absence of upper arm and forearm with hand present, bilateral skos:exactMatch Orphanet:295087 OBSOLETE: Congenital absence of upper arm and forearm with hand present, bilateral semapv:UnspecifiedMatching MONDO:0017497 congenital absence of thigh and lower leg with foot present, bilateral skos:exactMatch ICD10CM:Q72.13 Congenital absence of thigh and lower leg with foot present, bilateral semapv:UnspecifiedMatching MONDO:0017497 congenital absence of thigh and lower leg with foot present, bilateral skos:exactMatch MEDGEN:1843495 semapv:UnspecifiedMatching MONDO:0017497 congenital absence of thigh and lower leg with foot present, bilateral skos:exactMatch UMLS:C2910297 semapv:UnspecifiedMatching MONDO:0017498 congenital absence of both forearm and hand, unilateral skos:exactMatch icd11.foundation:2019491585 Congenital absence of both forearm and hand, unilateral semapv:UnspecifiedMatching MONDO:0017499 congenital absence of both forearm and hand, bilateral skos:exactMatch ICD10CM:Q71.23 Congenital absence of both forearm and hand, bilateral semapv:UnspecifiedMatching MONDO:0017499 congenital absence of both forearm and hand, bilateral skos:exactMatch MEDGEN:1843505 semapv:UnspecifiedMatching MONDO:0017499 congenital absence of both forearm and hand, bilateral skos:exactMatch UMLS:C2910270 semapv:UnspecifiedMatching MONDO:0017499 congenital absence of both forearm and hand, bilateral skos:exactMatch icd11.foundation:1524444518 Congenital absence of both forearm and hand, bilateral semapv:UnspecifiedMatching MONDO:0017500 congenital absence of both lower leg and foot, unilateral skos:exactMatch icd11.foundation:608099172 Congenital absence of both lower leg and foot, unilateral semapv:UnspecifiedMatching MONDO:0017501 congenital absence of both lower leg and foot, bilateral skos:exactMatch ICD10CM:Q72.23 Congenital absence of both lower leg and foot, bilateral semapv:UnspecifiedMatching MONDO:0017501 congenital absence of both lower leg and foot, bilateral skos:exactMatch MEDGEN:1759560 semapv:UnspecifiedMatching MONDO:0017501 congenital absence of both lower leg and foot, bilateral skos:exactMatch UMLS:C2910300 semapv:UnspecifiedMatching MONDO:0017501 congenital absence of both lower leg and foot, bilateral skos:exactMatch icd11.foundation:113051911 Congenital absence of both lower leg and foot, bilateral semapv:UnspecifiedMatching MONDO:0017502 acheiria, unilateral skos:exactMatch icd11.foundation:1906312110 Acheiria, unilateral semapv:UnspecifiedMatching MONDO:0017503 acheiria, bilateral skos:exactMatch MEDGEN:672347 semapv:UnspecifiedMatching MONDO:0017503 acheiria, bilateral skos:exactMatch SCTID:371189003 semapv:UnspecifiedMatching MONDO:0017503 acheiria, bilateral skos:exactMatch UMLS:C0685394 semapv:UnspecifiedMatching MONDO:0017503 acheiria, bilateral skos:exactMatch icd11.foundation:1430605018 Acheiria, bilateral semapv:UnspecifiedMatching MONDO:0017504 apodia, unilateral skos:exactMatch icd11.foundation:1499762342 Apodia, unilateral semapv:UnspecifiedMatching MONDO:0017505 apodia, bilateral skos:exactMatch MEDGEN:672391 semapv:UnspecifiedMatching MONDO:0017505 apodia, bilateral skos:exactMatch UMLS:C0685440 semapv:UnspecifiedMatching MONDO:0017505 apodia, bilateral skos:exactMatch icd11.foundation:1292290082 Apodia, bilateral semapv:UnspecifiedMatching MONDO:0017506 obsolete congenital absence/hypoplasia of thumb, unilateral skos:exactMatch Orphanet:295110 OBSOLETE: Congenital absence/hypoplasia of thumb, unilateral semapv:UnspecifiedMatching MONDO:0017507 obsolete congenital absence/hypoplasia of thumb, bilateral skos:exactMatch Orphanet:295112 OBSOLETE: Congenital absence/hypoplasia of thumb, bilateral semapv:UnspecifiedMatching MONDO:0017508 obsolete congenital absence/hypoplasia of fingers excluding thumb, bilateral skos:exactMatch Orphanet:295114 OBSOLETE: Congenital absence/hypoplasia of fingers excluding thumb, bilateral semapv:UnspecifiedMatching MONDO:0017510 adactyly of foot, bilateral skos:exactMatch MEDGEN:1718340 semapv:UnspecifiedMatching MONDO:0017510 adactyly of foot, bilateral skos:exactMatch UMLS:C5395377 semapv:UnspecifiedMatching MONDO:0017511 split hand, unilateral skos:exactMatch icd11.foundation:1675694993 Split hand, unilateral semapv:UnspecifiedMatching MONDO:0017512 split hand, bilateral skos:exactMatch MEDGEN:1752875 semapv:UnspecifiedMatching MONDO:0017512 split hand, bilateral skos:exactMatch UMLS:C5438934 semapv:UnspecifiedMatching MONDO:0017512 split hand, bilateral skos:exactMatch icd11.foundation:1096991220 Split hand, bilateral semapv:UnspecifiedMatching MONDO:0017513 split foot, unilateral skos:exactMatch icd11.foundation:1995563146 Split foot, unilateral semapv:UnspecifiedMatching MONDO:0017514 split foot, bilateral skos:exactMatch ICD10CM:Q72.73 Split foot, bilateral semapv:UnspecifiedMatching MONDO:0017514 split foot, bilateral skos:exactMatch MEDGEN:1757565 semapv:UnspecifiedMatching MONDO:0017514 split foot, bilateral skos:exactMatch UMLS:C2910315 semapv:UnspecifiedMatching MONDO:0017514 split foot, bilateral skos:exactMatch icd11.foundation:1227623929 Split foot, bilateral semapv:UnspecifiedMatching MONDO:0017515 brachydactyly of fingers, unilateral skos:exactMatch icd11.foundation:825108601 Brachydactyly of fingers, unilateral semapv:UnspecifiedMatching MONDO:0017516 brachydactyly of fingers, bilateral skos:exactMatch MEDGEN:1665318 semapv:UnspecifiedMatching MONDO:0017516 brachydactyly of fingers, bilateral skos:exactMatch UMLS:C4751023 semapv:UnspecifiedMatching MONDO:0017516 brachydactyly of fingers, bilateral skos:exactMatch icd11.foundation:412618992 Brachydactyly of fingers, bilateral semapv:UnspecifiedMatching MONDO:0017517 brachydactyly of toes, unilateral skos:exactMatch icd11.foundation:714196201 Brachydactyly of toes, unilateral semapv:UnspecifiedMatching MONDO:0017518 brachydactyly of toes, bilateral skos:exactMatch MEDGEN:1702894 semapv:UnspecifiedMatching MONDO:0017518 brachydactyly of toes, bilateral skos:exactMatch UMLS:C5229808 semapv:UnspecifiedMatching MONDO:0017518 brachydactyly of toes, bilateral skos:exactMatch icd11.foundation:357312922 Brachydactyly of toes, bilateral semapv:UnspecifiedMatching MONDO:0017520 symbrachydactyly of hand and foot, bilateral skos:exactMatch MEDGEN:754111 semapv:UnspecifiedMatching MONDO:0017520 symbrachydactyly of hand and foot, bilateral skos:exactMatch UMLS:C2919807 semapv:UnspecifiedMatching MONDO:0017521 hyperphalangy, unilateral skos:exactMatch icd11.foundation:1023621052 Hyperphalangy, unilateral semapv:UnspecifiedMatching MONDO:0017522 hyperphalangy, bilateral skos:exactMatch icd11.foundation:528541151 Hyperphalangy, bilateral semapv:UnspecifiedMatching MONDO:0017525 polydactyly of a triphalangeal thumb, unilateral skos:exactMatch icd11.foundation:71240015 Polydactyly of a triphalangeal thumb, unilateral semapv:UnspecifiedMatching MONDO:0017526 polydactyly of a triphalangeal thumb, bilateral skos:exactMatch icd11.foundation:866920497 Polydactyly of a triphalangeal thumb, bilateral semapv:UnspecifiedMatching MONDO:0017527 polydactyly of an index finger, unilateral skos:exactMatch icd11.foundation:734031453 Polydactyly of an index finger, unilateral semapv:UnspecifiedMatching MONDO:0017528 polydactyly of an index finger, bilateral skos:exactMatch MEDGEN:1727346 semapv:UnspecifiedMatching MONDO:0017528 polydactyly of an index finger, bilateral skos:exactMatch UMLS:C5438861 semapv:UnspecifiedMatching MONDO:0017528 polydactyly of an index finger, bilateral skos:exactMatch icd11.foundation:806174152 Polydactyly of an index finger, bilateral semapv:UnspecifiedMatching MONDO:0017529 polysyndactyly, unilateral skos:exactMatch icd11.foundation:127802550 Polysyndactyly, unilateral semapv:UnspecifiedMatching MONDO:0017530 polysyndactyly, bilateral skos:exactMatch icd11.foundation:622710483 Polysyndactyly, bilateral semapv:UnspecifiedMatching MONDO:0017531 postaxial polydactyly type A, unilateral skos:exactMatch icd11.foundation:471986216 Postaxial polydactyly type A, unilateral semapv:UnspecifiedMatching MONDO:0017532 postaxial polydactyly type A, bilateral skos:exactMatch icd11.foundation:1050812995 Postaxial polydactyly type A, bilateral semapv:UnspecifiedMatching MONDO:0017533 postaxial polydactyly type B, unilateral skos:exactMatch icd11.foundation:154207037 Postaxial polydactyly type B, unilateral semapv:UnspecifiedMatching MONDO:0017534 postaxial polydactyly type B, bilateral skos:exactMatch icd11.foundation:921497168 Postaxial polydactyly type B, bilateral semapv:UnspecifiedMatching MONDO:0017535 central polydactyly of fingers, unilateral skos:exactMatch icd11.foundation:738371690 Central polydactyly of fingers, unilateral semapv:UnspecifiedMatching MONDO:0017536 central polydactyly of fingers, bilateral skos:exactMatch MEDGEN:1747972 semapv:UnspecifiedMatching MONDO:0017536 central polydactyly of fingers, bilateral skos:exactMatch UMLS:C5437814 semapv:UnspecifiedMatching MONDO:0017536 central polydactyly of fingers, bilateral skos:exactMatch icd11.foundation:462522644 Central polydactyly of fingers, bilateral semapv:UnspecifiedMatching MONDO:0017537 Preaxial polydactyly of toes, unilateral skos:exactMatch icd11.foundation:841462147 Preaxial polydactyly of toes, unilateral semapv:UnspecifiedMatching MONDO:0017538 Preaxial polydactyly of toes, bilateral skos:exactMatch MEDGEN:1741594 semapv:UnspecifiedMatching MONDO:0017538 Preaxial polydactyly of toes, bilateral skos:exactMatch UMLS:C5437916 semapv:UnspecifiedMatching MONDO:0017538 Preaxial polydactyly of toes, bilateral skos:exactMatch icd11.foundation:3040646 Preaxial polydactyly of toes, bilateral semapv:UnspecifiedMatching MONDO:0017539 obsolete postaxial polydactyly of toes, unilateral skos:exactMatch Orphanet:295179 OBSOLETE: Postaxial polydactyly of toes, unilateral semapv:UnspecifiedMatching MONDO:0017540 obsolete postaxial polydactyly of toes, bilateral skos:exactMatch Orphanet:295181 OBSOLETE: Postaxial polydactyly of toes, bilateral semapv:UnspecifiedMatching MONDO:0017541 obsolete central polydactyly of toes, unilateral skos:exactMatch Orphanet:295183 OBSOLETE: Central polydactyly of toes, unilateral semapv:UnspecifiedMatching MONDO:0017542 obsolete central polydactyly of toes, bilateral skos:exactMatch Orphanet:295185 OBSOLETE: Central polydactyly of toes, bilateral semapv:UnspecifiedMatching MONDO:0017543 zygodactyly type 2 skos:exactMatch MEDGEN:1842290 semapv:UnspecifiedMatching MONDO:0017543 zygodactyly type 2 skos:exactMatch Orphanet:295189 Zygodactyly type 2 semapv:UnspecifiedMatching MONDO:0017543 zygodactyly type 2 skos:exactMatch UMLS:C5679982 semapv:UnspecifiedMatching MONDO:0017543 zygodactyly type 2 skos:exactMatch icd11.foundation:1092417894 Zygodactyly type 2 semapv:UnspecifiedMatching MONDO:0017544 zygodactyly type 3 skos:exactMatch MEDGEN:1843229 semapv:UnspecifiedMatching MONDO:0017544 zygodactyly type 3 skos:exactMatch Orphanet:295191 Zygodactyly type 3 semapv:UnspecifiedMatching MONDO:0017544 zygodactyly type 3 skos:exactMatch UMLS:C5679983 semapv:UnspecifiedMatching MONDO:0017544 zygodactyly type 3 skos:exactMatch icd11.foundation:1831534806 Zygodactyly type 3 semapv:UnspecifiedMatching MONDO:0017545 zygodactyly type 4 skos:exactMatch MEDGEN:1843119 semapv:UnspecifiedMatching MONDO:0017545 zygodactyly type 4 skos:exactMatch Orphanet:295193 Zygodactyly type 4 semapv:UnspecifiedMatching MONDO:0017545 zygodactyly type 4 skos:exactMatch UMLS:C5679981 semapv:UnspecifiedMatching MONDO:0017545 zygodactyly type 4 skos:exactMatch icd11.foundation:1391914407 Zygodactyly type 4 semapv:UnspecifiedMatching MONDO:0017546 congenital vertical talus, unilateral skos:exactMatch MEDGEN:1842526 semapv:UnspecifiedMatching MONDO:0017546 congenital vertical talus, unilateral skos:exactMatch Orphanet:295201 Congenital vertical talus, unilateral semapv:UnspecifiedMatching MONDO:0017546 congenital vertical talus, unilateral skos:exactMatch UMLS:C5681089 semapv:UnspecifiedMatching MONDO:0017546 congenital vertical talus, unilateral skos:exactMatch icd11.foundation:2123428798 Congenital vertical talus, unilateral semapv:UnspecifiedMatching MONDO:0017547 congenital vertical talus, bilateral skos:exactMatch MEDGEN:349821 semapv:UnspecifiedMatching MONDO:0017547 congenital vertical talus, bilateral skos:exactMatch Orphanet:295203 Congenital vertical talus, bilateral semapv:UnspecifiedMatching MONDO:0017547 congenital vertical talus, bilateral skos:exactMatch UMLS:C1860446 semapv:UnspecifiedMatching MONDO:0017547 congenital vertical talus, bilateral skos:exactMatch icd11.foundation:1224987332 Congenital vertical talus, bilateral semapv:UnspecifiedMatching MONDO:0017548 humero-radio-ulnar synostosis, unilateral skos:exactMatch icd11.foundation:322904301 Humero-radio-ulnar synostosis, unilateral semapv:UnspecifiedMatching MONDO:0017549 humero-radio-ulnar synostosis, bilateral skos:exactMatch MEDGEN:1744773 semapv:UnspecifiedMatching MONDO:0017549 humero-radio-ulnar synostosis, bilateral skos:exactMatch UMLS:C5438978 semapv:UnspecifiedMatching MONDO:0017549 humero-radio-ulnar synostosis, bilateral skos:exactMatch icd11.foundation:557249772 Humero-radio-ulnar synostosis, bilateral semapv:UnspecifiedMatching MONDO:0017550 humero-radial synostosis, unilateral skos:exactMatch icd11.foundation:695744743 Humero-radial synostosis, unilateral semapv:UnspecifiedMatching MONDO:0017551 humero-radial synostosis, bilateral skos:exactMatch icd11.foundation:1424025632 Humero-radial synostosis, bilateral semapv:UnspecifiedMatching MONDO:0017552 humero-ulnar synostosis, unilateral skos:exactMatch icd11.foundation:1726561305 Humero-ulnar synostosis, unilateral semapv:UnspecifiedMatching MONDO:0017553 humero-ulnar synostosis, bilateral skos:exactMatch MEDGEN:1776945 semapv:UnspecifiedMatching MONDO:0017553 humero-ulnar synostosis, bilateral skos:exactMatch UMLS:C5438980 semapv:UnspecifiedMatching MONDO:0017553 humero-ulnar synostosis, bilateral skos:exactMatch icd11.foundation:1331627150 Humero-ulnar synostosis, bilateral semapv:UnspecifiedMatching MONDO:0017554 radio-ulnar synostosis, unilateral skos:exactMatch icd11.foundation:2026644976 Radio-ulnar synostosis, unilateral semapv:UnspecifiedMatching MONDO:0017555 radio-ulnar synostosis, bilateral skos:exactMatch icd11.foundation:1515190165 Radio-ulnar synostosis, bilateral semapv:UnspecifiedMatching MONDO:0017556 Madelung deformity, unilateral skos:exactMatch icd11.foundation:1964514438 Madelung deformity, unilateral semapv:UnspecifiedMatching MONDO:0017557 Madelung deformity, bilateral skos:exactMatch MEDGEN:1723370 semapv:UnspecifiedMatching MONDO:0017557 Madelung deformity, bilateral skos:exactMatch UMLS:C5437754 semapv:UnspecifiedMatching MONDO:0017557 Madelung deformity, bilateral skos:exactMatch icd11.foundation:1577029287 Madelung deformity, bilateral semapv:UnspecifiedMatching MONDO:0017558 congenital elbow dislocation, unilateral skos:exactMatch MEDGEN:1842743 semapv:UnspecifiedMatching MONDO:0017558 congenital elbow dislocation, unilateral skos:exactMatch Orphanet:295225 Congenital elbow dislocation, unilateral semapv:UnspecifiedMatching MONDO:0017558 congenital elbow dislocation, unilateral skos:exactMatch UMLS:C5681091 semapv:UnspecifiedMatching MONDO:0017558 congenital elbow dislocation, unilateral skos:exactMatch icd11.foundation:1630272046 Congenital elbow dislocation, unilateral semapv:UnspecifiedMatching MONDO:0017559 congenital elbow dislocation, bilateral skos:exactMatch MEDGEN:1757455 semapv:UnspecifiedMatching MONDO:0017559 congenital elbow dislocation, bilateral skos:exactMatch Orphanet:295227 Congenital elbow dislocation, bilateral semapv:UnspecifiedMatching MONDO:0017559 congenital elbow dislocation, bilateral skos:exactMatch UMLS:C5437776 semapv:UnspecifiedMatching MONDO:0017559 congenital elbow dislocation, bilateral skos:exactMatch icd11.foundation:1454955344 Congenital elbow dislocation, bilateral semapv:UnspecifiedMatching MONDO:0017560 congenital genu recurvatum skos:exactMatch MEDGEN:508941 semapv:UnspecifiedMatching MONDO:0017560 congenital genu recurvatum skos:exactMatch NCIT:C103184 Genu Recurvatum semapv:UnspecifiedMatching MONDO:0017560 congenital genu recurvatum skos:exactMatch Orphanet:295229 Congenital genu recurvatum semapv:UnspecifiedMatching MONDO:0017560 congenital genu recurvatum skos:exactMatch SCTID:205063003 semapv:UnspecifiedMatching MONDO:0017560 congenital genu recurvatum skos:exactMatch UMLS:C0152235 semapv:UnspecifiedMatching MONDO:0017560 congenital genu recurvatum skos:exactMatch icd11.foundation:1709221347 Congenital genu recurvatum semapv:UnspecifiedMatching MONDO:0017561 congenital genu flexum skos:exactMatch MEDGEN:1842651 semapv:UnspecifiedMatching MONDO:0017561 congenital genu flexum skos:exactMatch Orphanet:295232 Congenital genu flexum semapv:UnspecifiedMatching MONDO:0017561 congenital genu flexum skos:exactMatch UMLS:C5681090 semapv:UnspecifiedMatching MONDO:0017561 congenital genu flexum skos:exactMatch icd11.foundation:830907514 Congenital genu flexum semapv:UnspecifiedMatching MONDO:0017562 congenital patella dislocation, unilateral skos:exactMatch icd11.foundation:1894799098 Congenital patella dislocation, unilateral semapv:UnspecifiedMatching MONDO:0017563 congenital patella dislocation, bilateral skos:exactMatch MEDGEN:1741152 semapv:UnspecifiedMatching MONDO:0017563 congenital patella dislocation, bilateral skos:exactMatch UMLS:C5437898 semapv:UnspecifiedMatching MONDO:0017563 congenital patella dislocation, bilateral skos:exactMatch icd11.foundation:1604828649 Congenital patella dislocation, bilateral semapv:UnspecifiedMatching MONDO:0017564 macrodactyly of fingers, unilateral skos:exactMatch MEDGEN:1843434 semapv:UnspecifiedMatching MONDO:0017564 macrodactyly of fingers, unilateral skos:exactMatch Orphanet:295239 Macrodactyly of fingers, unilateral semapv:UnspecifiedMatching MONDO:0017564 macrodactyly of fingers, unilateral skos:exactMatch UMLS:C5679987 semapv:UnspecifiedMatching MONDO:0017564 macrodactyly of fingers, unilateral skos:exactMatch icd11.foundation:128394973 Macrodactyly of fingers, unilateral semapv:UnspecifiedMatching MONDO:0017565 macrodactyly of fingers, bilateral skos:exactMatch MEDGEN:1730289 semapv:UnspecifiedMatching MONDO:0017565 macrodactyly of fingers, bilateral skos:exactMatch Orphanet:295241 Macrodactyly of fingers, bilateral semapv:UnspecifiedMatching MONDO:0017565 macrodactyly of fingers, bilateral skos:exactMatch UMLS:C5437813 semapv:UnspecifiedMatching MONDO:0017565 macrodactyly of fingers, bilateral skos:exactMatch icd11.foundation:514958635 Macrodactyly of fingers, bilateral semapv:UnspecifiedMatching MONDO:0017566 macrodactyly of toes, unilateral skos:exactMatch MEDGEN:1843435 semapv:UnspecifiedMatching MONDO:0017566 macrodactyly of toes, unilateral skos:exactMatch Orphanet:295243 Macrodactyly of toes, unilateral semapv:UnspecifiedMatching MONDO:0017566 macrodactyly of toes, unilateral skos:exactMatch UMLS:C5679988 semapv:UnspecifiedMatching MONDO:0017566 macrodactyly of toes, unilateral skos:exactMatch icd11.foundation:1009940304 Macrodactyly of toes, unilateral semapv:UnspecifiedMatching MONDO:0017567 macrodactyly of toes, bilateral skos:exactMatch MEDGEN:1740751 semapv:UnspecifiedMatching MONDO:0017567 macrodactyly of toes, bilateral skos:exactMatch Orphanet:295245 Macrodactyly of toes, bilateral semapv:UnspecifiedMatching MONDO:0017567 macrodactyly of toes, bilateral skos:exactMatch UMLS:C5437810 semapv:UnspecifiedMatching MONDO:0017567 macrodactyly of toes, bilateral skos:exactMatch icd11.foundation:84822459 Macrodactyly of toes, bilateral semapv:UnspecifiedMatching MONDO:0017568 Prata-Liberal-Goncalves syndrome skos:exactMatch MEDGEN:419156 semapv:UnspecifiedMatching MONDO:0017568 Prata-Liberal-Goncalves syndrome skos:exactMatch Orphanet:2956 Acrodysplasia scoliosis semapv:UnspecifiedMatching MONDO:0017568 Prata-Liberal-Goncalves syndrome skos:exactMatch UMLS:C2931761 semapv:UnspecifiedMatching MONDO:0017569 de Barsy syndrome skos:exactMatch DOID:0070143 autosomal recessive cutis laxa type III semapv:UnspecifiedMatching MONDO:0017569 de Barsy syndrome skos:exactMatch MEDGEN:82794 semapv:UnspecifiedMatching MONDO:0017569 de Barsy syndrome skos:exactMatch Orphanet:2962 De Barsy syndrome semapv:UnspecifiedMatching MONDO:0017569 de Barsy syndrome skos:exactMatch SCTID:238826008 semapv:UnspecifiedMatching MONDO:0017569 de Barsy syndrome skos:exactMatch UMLS:C0268354 semapv:UnspecifiedMatching MONDO:0017569 de Barsy syndrome skos:exactMatch mesh:C535990 semapv:UnspecifiedMatching MONDO:0017570 leukocyte adhesion deficiency skos:exactMatch DOID:6612 leukocyte adhesion deficiency semapv:UnspecifiedMatching MONDO:0017570 leukocyte adhesion deficiency skos:exactMatch MEDGEN:124419 semapv:UnspecifiedMatching MONDO:0017570 leukocyte adhesion deficiency skos:exactMatch NCIT:C27874 Leukocyte Adhesion Deficiency semapv:UnspecifiedMatching MONDO:0017570 leukocyte adhesion deficiency skos:exactMatch Orphanet:2968 Leukocyte adhesion deficiency semapv:UnspecifiedMatching MONDO:0017570 leukocyte adhesion deficiency skos:exactMatch SCTID:77358003 semapv:UnspecifiedMatching MONDO:0017570 leukocyte adhesion deficiency skos:exactMatch UMLS:C0272187 semapv:UnspecifiedMatching MONDO:0017570 leukocyte adhesion deficiency skos:exactMatch icd11.foundation:317341989 Leukocyte adhesion deficiency semapv:UnspecifiedMatching MONDO:0017571 Proteus-like syndrome skos:exactMatch MEDGEN:356222 semapv:UnspecifiedMatching MONDO:0017571 Proteus-like syndrome skos:exactMatch NCIT:C179930 Proteus-Like Syndrome semapv:UnspecifiedMatching MONDO:0017571 Proteus-like syndrome skos:exactMatch Orphanet:2969 Proteus-like syndrome semapv:UnspecifiedMatching MONDO:0017571 Proteus-like syndrome skos:exactMatch SCTID:716862002 semapv:UnspecifiedMatching MONDO:0017571 Proteus-like syndrome skos:exactMatch UMLS:C1866398 semapv:UnspecifiedMatching MONDO:0017572 tick-borne encephalitis skos:exactMatch DOID:0050175 tick-borne encephalitis semapv:UnspecifiedMatching MONDO:0017572 tick-borne encephalitis skos:exactMatch EFO:1001309 semapv:UnspecifiedMatching MONDO:0017572 tick-borne encephalitis skos:exactMatch ICD10CM:A84 Tick-borne viral encephalitis semapv:UnspecifiedMatching MONDO:0017572 tick-borne encephalitis skos:exactMatch MEDGEN:4034 semapv:UnspecifiedMatching MONDO:0017572 tick-borne encephalitis skos:exactMatch NCIT:C34579 Tick-Borne Viral Encephalitis semapv:UnspecifiedMatching MONDO:0017572 tick-borne encephalitis skos:exactMatch Orphanet:297 Tick-borne encephalitis semapv:UnspecifiedMatching MONDO:0017572 tick-borne encephalitis skos:exactMatch UMLS:C0014061 semapv:UnspecifiedMatching MONDO:0017572 tick-borne encephalitis skos:exactMatch icd11.foundation:835129952 Tick-borne encephalitis semapv:UnspecifiedMatching MONDO:0017572 tick-borne encephalitis skos:exactMatch mesh:D004675 semapv:UnspecifiedMatching MONDO:0017573 46,XX disorder of sex development-anorectal anomalies syndrome skos:exactMatch MEDGEN:1382292 semapv:UnspecifiedMatching MONDO:0017573 46,XX disorder of sex development-anorectal anomalies syndrome skos:exactMatch Orphanet:2973 46,XX difference of sex development-anorectal anomalies syndrome semapv:UnspecifiedMatching MONDO:0017573 46,XX disorder of sex development-anorectal anomalies syndrome skos:exactMatch UMLS:C4518078 semapv:UnspecifiedMatching MONDO:0017574 chronic intestinal pseudoobstruction skos:exactMatch MEDGEN:536759 semapv:UnspecifiedMatching MONDO:0017574 chronic intestinal pseudoobstruction skos:exactMatch Orphanet:2978 Chronic intestinal pseudoobstruction syndrome semapv:UnspecifiedMatching MONDO:0017574 chronic intestinal pseudoobstruction skos:exactMatch SCTID:235828008 semapv:UnspecifiedMatching MONDO:0017574 chronic intestinal pseudoobstruction skos:exactMatch UMLS:C0238062 semapv:UnspecifiedMatching MONDO:0017575 mitochondrial neurogastrointestinal encephalomyopathy skos:exactMatch MEDGEN:167876 semapv:UnspecifiedMatching MONDO:0017575 mitochondrial neurogastrointestinal encephalomyopathy skos:exactMatch NCIT:C119678 Mitochondrial Neurogastrointestinal Encephalopathy semapv:UnspecifiedMatching MONDO:0017575 mitochondrial neurogastrointestinal encephalomyopathy skos:exactMatch Orphanet:298 Mitochondrial neurogastrointestinal encephalomyopathy semapv:UnspecifiedMatching MONDO:0017575 mitochondrial neurogastrointestinal encephalomyopathy skos:exactMatch SCTID:718214007 semapv:UnspecifiedMatching MONDO:0017575 mitochondrial neurogastrointestinal encephalomyopathy skos:exactMatch UMLS:C0872218 semapv:UnspecifiedMatching MONDO:0017575 mitochondrial neurogastrointestinal encephalomyopathy skos:exactMatch mesh:C537477 semapv:UnspecifiedMatching MONDO:0017576 46,XX disorder of sex development skos:exactMatch MEDGEN:424728 semapv:UnspecifiedMatching MONDO:0017576 46,XX disorder of sex development skos:exactMatch NCIT:C127169 46,XX Differences of Sex Development semapv:UnspecifiedMatching MONDO:0017576 46,XX disorder of sex development skos:exactMatch Orphanet:2982 46,XX difference of sex development semapv:UnspecifiedMatching MONDO:0017576 46,XX disorder of sex development skos:exactMatch SCTID:8800006 semapv:UnspecifiedMatching MONDO:0017576 46,XX disorder of sex development skos:exactMatch UMLS:C2936403 semapv:UnspecifiedMatching MONDO:0017576 46,XX disorder of sex development skos:exactMatch mesh:D058489 semapv:UnspecifiedMatching MONDO:0017577 spontaneous periodic hypothermia skos:exactMatch MEDGEN:419438 semapv:UnspecifiedMatching MONDO:0017577 spontaneous periodic hypothermia skos:exactMatch Orphanet:29822 Spontaneous periodic hypothermia semapv:UnspecifiedMatching MONDO:0017577 spontaneous periodic hypothermia skos:exactMatch UMLS:C2931542 semapv:UnspecifiedMatching MONDO:0017577 spontaneous periodic hypothermia skos:exactMatch mesh:C537594 semapv:UnspecifiedMatching MONDO:0017578 disorder of thiamine metabolism and transport skos:exactMatch MEDGEN:1842558 semapv:UnspecifiedMatching MONDO:0017578 disorder of thiamine metabolism and transport skos:exactMatch Orphanet:298644 Disorder of thiamine metabolism and transport semapv:UnspecifiedMatching MONDO:0017578 disorder of thiamine metabolism and transport skos:exactMatch UMLS:C5681092 semapv:UnspecifiedMatching MONDO:0017579 Baraitser-Winter cerebrofrontofacial syndrome skos:exactMatch DOID:0060229 Baraitser-Winter syndrome semapv:UnspecifiedMatching MONDO:0017579 Baraitser-Winter cerebrofrontofacial syndrome skos:exactMatch MEDGEN:340016 semapv:UnspecifiedMatching MONDO:0017579 Baraitser-Winter cerebrofrontofacial syndrome skos:exactMatch OMIMPS:243310 Baraitser-Winter syndrome semapv:UnspecifiedMatching MONDO:0017579 Baraitser-Winter cerebrofrontofacial syndrome skos:exactMatch Orphanet:2995 Baraitser-Winter cerebrofrontofacial syndrome semapv:UnspecifiedMatching MONDO:0017579 Baraitser-Winter cerebrofrontofacial syndrome skos:exactMatch SCTID:702410002 semapv:UnspecifiedMatching MONDO:0017579 Baraitser-Winter cerebrofrontofacial syndrome skos:exactMatch UMLS:C1853623 semapv:UnspecifiedMatching MONDO:0017580 11p15.4 microduplication syndrome skos:exactMatch MEDGEN:1660019 semapv:UnspecifiedMatching MONDO:0017580 11p15.4 microduplication syndrome skos:exactMatch Orphanet:300305 11p15.4 microduplication syndrome semapv:UnspecifiedMatching MONDO:0017580 11p15.4 microduplication syndrome skos:exactMatch UMLS:C4749508 semapv:UnspecifiedMatching MONDO:0017582 pituitary adenocarcinoma skos:exactMatch DOID:4916 pituitary carcinoma semapv:UnspecifiedMatching MONDO:0017582 pituitary adenocarcinoma skos:exactMatch MEDGEN:91096 semapv:UnspecifiedMatching MONDO:0017582 pituitary adenocarcinoma skos:exactMatch NCIT:C4536 Metastatic Pituitary Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO:0017582 pituitary adenocarcinoma skos:exactMatch Orphanet:300385 Pituitary carcinoma semapv:UnspecifiedMatching MONDO:0017582 pituitary adenocarcinoma skos:exactMatch SCTID:254955001 semapv:UnspecifiedMatching MONDO:0017582 pituitary adenocarcinoma skos:exactMatch UMLS:C0346300 semapv:UnspecifiedMatching MONDO:0017583 mirror polydactyly-vertebral segmentation-limbs defects syndrome skos:exactMatch MEDGEN:904039 semapv:UnspecifiedMatching MONDO:0017583 mirror polydactyly-vertebral segmentation-limbs defects syndrome skos:exactMatch Orphanet:3004 Mirror polydactyly-vertebral segmentation-limbs defects syndrome semapv:UnspecifiedMatching MONDO:0017583 mirror polydactyly-vertebral segmentation-limbs defects syndrome skos:exactMatch UMLS:C4275100 semapv:UnspecifiedMatching MONDO:0017584 Sagliker syndrome skos:exactMatch MEDGEN:1808631 semapv:UnspecifiedMatching MONDO:0017584 Sagliker syndrome skos:exactMatch Orphanet:300493 Sagliker syndrome semapv:UnspecifiedMatching MONDO:0017584 Sagliker syndrome skos:exactMatch UMLS:C5681093 semapv:UnspecifiedMatching MONDO:0017585 painful orbital and systemic neurofibromas-marfanoid habitus syndrome skos:exactMatch MEDGEN:1650687 semapv:UnspecifiedMatching MONDO:0017585 painful orbital and systemic neurofibromas-marfanoid habitus syndrome skos:exactMatch Orphanet:300501 Painful orbital and systemic neurofibromas-marfanoid habitus syndrome semapv:UnspecifiedMatching MONDO:0017585 painful orbital and systemic neurofibromas-marfanoid habitus syndrome skos:exactMatch UMLS:C4751109 semapv:UnspecifiedMatching MONDO:0017586 onychocytic matricoma skos:exactMatch MEDGEN:1662490 semapv:UnspecifiedMatching MONDO:0017586 onychocytic matricoma skos:exactMatch Orphanet:300504 Onychocytic matricoma semapv:UnspecifiedMatching MONDO:0017586 onychocytic matricoma skos:exactMatch UMLS:C4751108 semapv:UnspecifiedMatching MONDO:0017587 onychomatricoma skos:exactMatch MEDGEN:1667118 semapv:UnspecifiedMatching MONDO:0017587 onychomatricoma skos:exactMatch Orphanet:300512 Onychomatricoma semapv:UnspecifiedMatching MONDO:0017587 onychomatricoma skos:exactMatch UMLS:C4751078 semapv:UnspecifiedMatching MONDO:0017588 nail tumor skos:exactMatch MEDGEN:867576 semapv:UnspecifiedMatching MONDO:0017588 nail tumor skos:exactMatch Orphanet:300515 Rare nail tumor semapv:UnspecifiedMatching MONDO:0017588 nail tumor skos:exactMatch UMLS:C4021961 semapv:UnspecifiedMatching MONDO:0017589 follicular cholangitis and pancreatitis skos:exactMatch MEDGEN:1667817 semapv:UnspecifiedMatching MONDO:0017589 follicular cholangitis and pancreatitis skos:exactMatch Orphanet:300552 Follicular cholangitis and pancreatitis semapv:UnspecifiedMatching MONDO:0017589 follicular cholangitis and pancreatitis skos:exactMatch UMLS:C4749906 semapv:UnspecifiedMatching MONDO:0017590 carcinoma of the ampulla of vater skos:exactMatch DOID:4932 ampulla of Vater carcinoma semapv:UnspecifiedMatching MONDO:0017590 carcinoma of the ampulla of vater skos:exactMatch EFO:1000079 semapv:UnspecifiedMatching MONDO:0017590 carcinoma of the ampulla of vater skos:exactMatch MEDGEN:120461 semapv:UnspecifiedMatching MONDO:0017590 carcinoma of the ampulla of vater skos:exactMatch NCIT:C3908 Ampulla of Vater Carcinoma semapv:UnspecifiedMatching MONDO:0017590 carcinoma of the ampulla of vater skos:exactMatch Orphanet:300557 Carcinoma of the ampulla of Vater semapv:UnspecifiedMatching MONDO:0017590 carcinoma of the ampulla of vater skos:exactMatch SCTID:254609000 semapv:UnspecifiedMatching MONDO:0017590 carcinoma of the ampulla of vater skos:exactMatch UMLS:C0262401 semapv:UnspecifiedMatching MONDO:0017590 carcinoma of the ampulla of vater skos:exactMatch icd11.foundation:267067189 Malignant neoplasms of ampulla of Vater semapv:UnspecifiedMatching MONDO:0017591 combined pulmonary fibrosis-emphysema syndrome skos:exactMatch MEDGEN:838971 semapv:UnspecifiedMatching MONDO:0017591 combined pulmonary fibrosis-emphysema syndrome skos:exactMatch Orphanet:300564 Combined pulmonary fibrosis-emphysema syndrome semapv:UnspecifiedMatching MONDO:0017591 combined pulmonary fibrosis-emphysema syndrome skos:exactMatch UMLS:C3872815 semapv:UnspecifiedMatching MONDO:0017591 combined pulmonary fibrosis-emphysema syndrome skos:exactMatch icd11.foundation:1361267223 Combined pulmonary fibrosis and emphysema syndrome semapv:UnspecifiedMatching MONDO:0017592 staphylococcal toxemia skos:exactMatch MEDGEN:799765 semapv:UnspecifiedMatching MONDO:0017592 staphylococcal toxemia skos:exactMatch Orphanet:300579 Staphylococcal toxemia semapv:UnspecifiedMatching MONDO:0017592 staphylococcal toxemia skos:exactMatch UMLS:C0854511 semapv:UnspecifiedMatching MONDO:0017593 juvenile amyotrophic lateral sclerosis skos:exactMatch MEDGEN:923704 semapv:UnspecifiedMatching MONDO:0017593 juvenile amyotrophic lateral sclerosis skos:exactMatch Orphanet:300605 Juvenile amyotrophic lateral sclerosis semapv:UnspecifiedMatching MONDO:0017593 juvenile amyotrophic lateral sclerosis skos:exactMatch SCTID:718555006 semapv:UnspecifiedMatching MONDO:0017593 juvenile amyotrophic lateral sclerosis skos:exactMatch UMLS:C3468114 semapv:UnspecifiedMatching MONDO:0017594 indolent B-cell non-Hodgkin lymphoma skos:exactMatch MEDGEN:1741600 semapv:UnspecifiedMatching MONDO:0017594 indolent B-cell non-Hodgkin lymphoma skos:exactMatch NCIT:C171299 Indolent B-Cell Non-Hodgkin Lymphoma semapv:UnspecifiedMatching MONDO:0017594 indolent B-cell non-Hodgkin lymphoma skos:exactMatch Orphanet:300842 Indolent B-cell non-Hodgkin lymphoma semapv:UnspecifiedMatching MONDO:0017594 indolent B-cell non-Hodgkin lymphoma skos:exactMatch UMLS:C5419078 semapv:UnspecifiedMatching MONDO:0017595 aggressive B-cell non-Hodgkin lymphoma skos:exactMatch MEDGEN:1791561 semapv:UnspecifiedMatching MONDO:0017595 aggressive B-cell non-Hodgkin lymphoma skos:exactMatch NCIT:C178541 Aggressive B-Cell Non-Hodgkin Lymphoma semapv:UnspecifiedMatching MONDO:0017595 aggressive B-cell non-Hodgkin lymphoma skos:exactMatch Orphanet:300846 Aggressive B-cell non-Hodgkin lymphoma semapv:UnspecifiedMatching MONDO:0017595 aggressive B-cell non-Hodgkin lymphoma skos:exactMatch UMLS:C5555120 semapv:UnspecifiedMatching MONDO:0017596 diffuse large B-cell lymphoma of the central nervous system skos:exactMatch DOID:0081313 primary diffuse large B-cell lymphoma of the central nervous system semapv:UnspecifiedMatching MONDO:0017596 diffuse large B-cell lymphoma of the central nervous system skos:exactMatch MEDGEN:378339 semapv:UnspecifiedMatching MONDO:0017596 diffuse large B-cell lymphoma of the central nervous system skos:exactMatch NCIT:C71720 Primary Diffuse Large B-Cell Lymphoma of the Central Nervous System semapv:UnspecifiedMatching MONDO:0017596 diffuse large B-cell lymphoma of the central nervous system skos:exactMatch Orphanet:300849 Diffuse large B-cell lymphoma of the central nervous system semapv:UnspecifiedMatching MONDO:0017596 diffuse large B-cell lymphoma of the central nervous system skos:exactMatch SCTID:734066005 semapv:UnspecifiedMatching MONDO:0017596 diffuse large B-cell lymphoma of the central nervous system skos:exactMatch UMLS:C2026186 semapv:UnspecifiedMatching MONDO:0017596 diffuse large B-cell lymphoma of the central nervous system skos:exactMatch icd11.foundation:1029172881 Primary diffuse large B-cell lymphoma of central nervous system semapv:UnspecifiedMatching MONDO:0017597 T-cell/histiocyte rich large B cell lymphoma skos:exactMatch MEDGEN:232943 semapv:UnspecifiedMatching MONDO:0017597 T-cell/histiocyte rich large B cell lymphoma skos:exactMatch NCIT:C9496 T-Cell/Histiocyte-Rich Large B-Cell Lymphoma semapv:UnspecifiedMatching MONDO:0017597 T-cell/histiocyte rich large B cell lymphoma skos:exactMatch Orphanet:300857 T-cell/histiocyte rich large B cell lymphoma semapv:UnspecifiedMatching MONDO:0017597 T-cell/histiocyte rich large B cell lymphoma skos:exactMatch UMLS:C1321547 semapv:UnspecifiedMatching MONDO:0017597 T-cell/histiocyte rich large B cell lymphoma skos:exactMatch icd11.foundation:257833622 T-cell/histiocyte rich large B-cell lymphoma semapv:UnspecifiedMatching MONDO:0017598 primary cutaneous anaplastic large cell lymphoma skos:exactMatch MEDGEN:266255 semapv:UnspecifiedMatching MONDO:0017598 primary cutaneous anaplastic large cell lymphoma skos:exactMatch NCIT:C6860 Primary Cutaneous Anaplastic Large Cell Lymphoma semapv:UnspecifiedMatching MONDO:0017598 primary cutaneous anaplastic large cell lymphoma skos:exactMatch Orphanet:300865 Primary cutaneous anaplastic large cell lymphoma semapv:UnspecifiedMatching MONDO:0017598 primary cutaneous anaplastic large cell lymphoma skos:exactMatch UMLS:C1301362 semapv:UnspecifiedMatching MONDO:0017598 primary cutaneous anaplastic large cell lymphoma skos:exactMatch icd11.foundation:1972636482 Primary cutaneous CD30-positive anaplastic large cell lymphoma semapv:UnspecifiedMatching MONDO:0017598 primary cutaneous anaplastic large cell lymphoma skos:exactMatch mesh:D054446 semapv:UnspecifiedMatching MONDO:0017599 splenic diffuse red pulp small B-cell lymphoma skos:exactMatch MEDGEN:397437 semapv:UnspecifiedMatching MONDO:0017599 splenic diffuse red pulp small B-cell lymphoma skos:exactMatch NCIT:C80309 Splenic Diffuse Red Pulp Small B-Cell Lymphoma semapv:UnspecifiedMatching MONDO:0017599 splenic diffuse red pulp small B-cell lymphoma skos:exactMatch Orphanet:300869 Splenic diffuse red pulp small B-cell lymphoma semapv:UnspecifiedMatching MONDO:0017599 splenic diffuse red pulp small B-cell lymphoma skos:exactMatch SCTID:763884007 semapv:UnspecifiedMatching MONDO:0017599 splenic diffuse red pulp small B-cell lymphoma skos:exactMatch UMLS:C2699508 semapv:UnspecifiedMatching MONDO:0017599 splenic diffuse red pulp small B-cell lymphoma skos:exactMatch icd11.foundation:1970934986 Splenic diffuse red pulp small B-cell lymphoma semapv:UnspecifiedMatching MONDO:0017600 hairy cell leukemia variant skos:exactMatch DOID:713 HCL-V semapv:UnspecifiedMatching MONDO:0017600 hairy cell leukemia variant skos:exactMatch MEDGEN:91160 semapv:UnspecifiedMatching MONDO:0017600 hairy cell leukemia variant skos:exactMatch NCIT:C7401 Hairy Cell Leukemia Variant semapv:UnspecifiedMatching MONDO:0017600 hairy cell leukemia variant skos:exactMatch Orphanet:300878 Hairy cell leukemia variant semapv:UnspecifiedMatching MONDO:0017600 hairy cell leukemia variant skos:exactMatch SCTID:277568007 semapv:UnspecifiedMatching MONDO:0017600 hairy cell leukemia variant skos:exactMatch UMLS:C0349633 semapv:UnspecifiedMatching MONDO:0017601 diffuse large B-cell lymphoma with chronic inflammation skos:exactMatch MEDGEN:1374328 semapv:UnspecifiedMatching MONDO:0017601 diffuse large B-cell lymphoma with chronic inflammation skos:exactMatch NCIT:C80289 Diffuse Large B-Cell Lymphoma Associated with Chronic Inflammation semapv:UnspecifiedMatching MONDO:0017601 diffuse large B-cell lymphoma with chronic inflammation skos:exactMatch Orphanet:300888 Diffuse large B-cell lymphoma with chronic inflammation semapv:UnspecifiedMatching MONDO:0017601 diffuse large B-cell lymphoma with chronic inflammation skos:exactMatch UMLS:C4511460 semapv:UnspecifiedMatching MONDO:0017602 ALK-positive anaplastic large cell lymphoma skos:exactMatch ICD10CM:C84.6 Anaplastic large cell lymphoma, ALK-positive semapv:UnspecifiedMatching MONDO:0017602 ALK-positive anaplastic large cell lymphoma skos:exactMatch MEDGEN:233117 semapv:UnspecifiedMatching MONDO:0017602 ALK-positive anaplastic large cell lymphoma skos:exactMatch NCIT:C37193 Anaplastic Large Cell Lymphoma, ALK-Positive semapv:UnspecifiedMatching MONDO:0017602 ALK-positive anaplastic large cell lymphoma skos:exactMatch Orphanet:300895 ALK-positive anaplastic large cell lymphoma semapv:UnspecifiedMatching MONDO:0017602 ALK-positive anaplastic large cell lymphoma skos:exactMatch UMLS:C1332079 semapv:UnspecifiedMatching MONDO:0017603 ALK-negative anaplastic large cell lymphoma skos:exactMatch EFO:1000083 semapv:UnspecifiedMatching MONDO:0017603 ALK-negative anaplastic large cell lymphoma skos:exactMatch ICD10CM:C84.7 Anaplastic large cell lymphoma, ALK-negative semapv:UnspecifiedMatching MONDO:0017603 ALK-negative anaplastic large cell lymphoma skos:exactMatch MEDGEN:272266 semapv:UnspecifiedMatching MONDO:0017603 ALK-negative anaplastic large cell lymphoma skos:exactMatch NCIT:C37194 Anaplastic Large Cell Lymphoma, ALK-Negative semapv:UnspecifiedMatching MONDO:0017603 ALK-negative anaplastic large cell lymphoma skos:exactMatch Orphanet:300903 ALK-negative anaplastic large cell lymphoma semapv:UnspecifiedMatching MONDO:0017603 ALK-negative anaplastic large cell lymphoma skos:exactMatch UMLS:C1332078 semapv:UnspecifiedMatching MONDO:0017604 marginal zone lymphoma skos:exactMatch DOID:0050748 marginal zone lymphoma semapv:UnspecifiedMatching MONDO:0017604 marginal zone lymphoma skos:exactMatch EFO:1000630 semapv:UnspecifiedMatching MONDO:0017604 marginal zone lymphoma skos:exactMatch MEDGEN:277950 semapv:UnspecifiedMatching MONDO:0017604 marginal zone lymphoma skos:exactMatch NCIT:C4341 Marginal Zone Lymphoma semapv:UnspecifiedMatching MONDO:0017604 marginal zone lymphoma skos:exactMatch Orphanet:300912 Marginal zone lymphoma semapv:UnspecifiedMatching MONDO:0017604 marginal zone lymphoma skos:exactMatch SCTID:447100004 semapv:UnspecifiedMatching MONDO:0017604 marginal zone lymphoma skos:exactMatch UMLS:C1367654 semapv:UnspecifiedMatching MONDO:0017607 caudal regression sequence skos:exactMatch DOID:0080700 caudal regression syndrome semapv:UnspecifiedMatching MONDO:0017607 caudal regression sequence skos:exactMatch MEDGEN:81254 semapv:UnspecifiedMatching MONDO:0017607 caudal regression sequence skos:exactMatch NCIT:C124505 Caudal Dysplasia semapv:UnspecifiedMatching MONDO:0017607 caudal regression sequence skos:exactMatch Orphanet:3027 Caudal regression syndrome semapv:UnspecifiedMatching MONDO:0017607 caudal regression sequence skos:exactMatch UMLS:C0300948 semapv:UnspecifiedMatching MONDO:0017607 caudal regression sequence skos:exactMatch icd11.foundation:269997265 Caudal regression sequence semapv:UnspecifiedMatching MONDO:0017609 renal tubular dysgenesis skos:exactMatch MEDGEN:82738 semapv:UnspecifiedMatching MONDO:0017609 renal tubular dysgenesis skos:exactMatch Orphanet:3033 Renal tubular dysgenesis semapv:UnspecifiedMatching MONDO:0017609 renal tubular dysgenesis skos:exactMatch SCTID:702397002 semapv:UnspecifiedMatching MONDO:0017609 renal tubular dysgenesis skos:exactMatch UMLS:C0266313 semapv:UnspecifiedMatching MONDO:0017609 renal tubular dysgenesis skos:exactMatch icd11.foundation:191424358 Renal tubular dysgenesis semapv:UnspecifiedMatching MONDO:0017610 epidermolysis bullosa simplex skos:exactMatch DOID:4644 epidermolysis bullosa simplex semapv:UnspecifiedMatching MONDO:0017610 epidermolysis bullosa simplex skos:exactMatch ICD10CM:Q81.0 Epidermolysis bullosa simplex semapv:UnspecifiedMatching MONDO:0017610 epidermolysis bullosa simplex skos:exactMatch MEDGEN:86896 semapv:UnspecifiedMatching MONDO:0017610 epidermolysis bullosa simplex skos:exactMatch NCIT:C84692 Epidermolysis Bullosa Simplex semapv:UnspecifiedMatching MONDO:0017610 epidermolysis bullosa simplex skos:exactMatch OMIMPS:131760 Epidermolysis bullosa simplex semapv:UnspecifiedMatching MONDO:0017610 epidermolysis bullosa simplex skos:exactMatch Orphanet:304 Epidermolysis bullosa simplex semapv:UnspecifiedMatching MONDO:0017610 epidermolysis bullosa simplex skos:exactMatch SCTID:67144006 semapv:UnspecifiedMatching MONDO:0017610 epidermolysis bullosa simplex skos:exactMatch UMLS:C0079298 semapv:UnspecifiedMatching MONDO:0017610 epidermolysis bullosa simplex skos:exactMatch icd11.foundation:1860717527 Epidermolysis bullosa simplex semapv:UnspecifiedMatching MONDO:0017610 epidermolysis bullosa simplex skos:exactMatch mesh:D016110 semapv:UnspecifiedMatching MONDO:0017611 pituitary tumor skos:exactMatch MEDGEN:19326 semapv:UnspecifiedMatching MONDO:0017611 pituitary tumor skos:exactMatch NCIT:C3330 Pituitary Gland Neoplasm semapv:UnspecifiedMatching MONDO:0017611 pituitary tumor skos:exactMatch Orphanet:304055 Pituitary tumor semapv:UnspecifiedMatching MONDO:0017611 pituitary tumor skos:exactMatch SCTID:127024001 semapv:UnspecifiedMatching MONDO:0017611 pituitary tumor skos:exactMatch UMLS:C0032019 semapv:UnspecifiedMatching MONDO:0017612 junctional epidermolysis bullosa skos:exactMatch DOID:3209 junctional epidermolysis bullosa semapv:UnspecifiedMatching MONDO:0017612 junctional epidermolysis bullosa skos:exactMatch MEDGEN:86898 semapv:UnspecifiedMatching MONDO:0017612 junctional epidermolysis bullosa skos:exactMatch NCIT:C90598 Junctional Epidermolysis Bullosa semapv:UnspecifiedMatching MONDO:0017612 junctional epidermolysis bullosa skos:exactMatch OMIMPS:226650 Epidermolysis bullosa, junctional semapv:UnspecifiedMatching MONDO:0017612 junctional epidermolysis bullosa skos:exactMatch Orphanet:305 Junctional epidermolysis bullosa semapv:UnspecifiedMatching MONDO:0017612 junctional epidermolysis bullosa skos:exactMatch SCTID:79855003 semapv:UnspecifiedMatching MONDO:0017612 junctional epidermolysis bullosa skos:exactMatch UMLS:C0079301 semapv:UnspecifiedMatching MONDO:0017612 junctional epidermolysis bullosa skos:exactMatch icd11.foundation:1501260457 Junctional epidermolysis bullosa semapv:UnspecifiedMatching MONDO:0017612 junctional epidermolysis bullosa skos:exactMatch mesh:D016109 semapv:UnspecifiedMatching MONDO:0017614 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome skos:exactMatch MEDGEN:162925 semapv:UnspecifiedMatching MONDO:0017614 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome skos:exactMatch Orphanet:3055 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome semapv:UnspecifiedMatching MONDO:0017614 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome skos:exactMatch UMLS:C0796264 semapv:UnspecifiedMatching MONDO:0017614 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome skos:exactMatch mesh:C536715 semapv:UnspecifiedMatching MONDO:0017615 benign familial infantile epilepsy skos:exactMatch DOID:0060169 benign familial infantile epilepsy semapv:UnspecifiedMatching MONDO:0017615 benign familial infantile epilepsy skos:exactMatch MEDGEN:1806836 semapv:UnspecifiedMatching MONDO:0017615 benign familial infantile epilepsy skos:exactMatch OMIMPS:601764 Seizures, benign familial infantile semapv:UnspecifiedMatching MONDO:0017615 benign familial infantile epilepsy skos:exactMatch Orphanet:306 Self-limited infantile epilepsy semapv:UnspecifiedMatching MONDO:0017615 benign familial infantile epilepsy skos:exactMatch SCTID:230410004 semapv:UnspecifiedMatching MONDO:0017615 benign familial infantile epilepsy skos:exactMatch UMLS:C5575231 semapv:UnspecifiedMatching MONDO:0017615 benign familial infantile epilepsy skos:exactMatch icd11.foundation:1944845279 Benign familial infantile epilepsy semapv:UnspecifiedMatching MONDO:0017617 acquired adult-onset immunodeficiency skos:exactMatch MEDGEN:1684214 semapv:UnspecifiedMatching MONDO:0017617 acquired adult-onset immunodeficiency skos:exactMatch Orphanet:306431 Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies semapv:UnspecifiedMatching MONDO:0017617 acquired adult-onset immunodeficiency skos:exactMatch UMLS:C5191336 semapv:UnspecifiedMatching MONDO:0017623 PTEN hamartoma tumor syndrome skos:exactMatch DOID:0080191 obsolete PTEN hamartoma tumor syndrome semapv:UnspecifiedMatching MONDO:0017623 PTEN hamartoma tumor syndrome skos:exactMatch MEDGEN:368366 semapv:UnspecifiedMatching MONDO:0017623 PTEN hamartoma tumor syndrome skos:exactMatch NCIT:C179915 PTEN Hamartoma Tumor Syndrome semapv:UnspecifiedMatching MONDO:0017623 PTEN hamartoma tumor syndrome skos:exactMatch Orphanet:306498 PTEN hamartoma tumor syndrome semapv:UnspecifiedMatching MONDO:0017623 PTEN hamartoma tumor syndrome skos:exactMatch SCTID:722859001 semapv:UnspecifiedMatching MONDO:0017623 PTEN hamartoma tumor syndrome skos:exactMatch UMLS:C1959582 semapv:UnspecifiedMatching MONDO:0017624 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis skos:exactMatch MEDGEN:1843047 semapv:UnspecifiedMatching MONDO:0017624 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis skos:exactMatch Orphanet:306516 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis semapv:UnspecifiedMatching MONDO:0017624 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis skos:exactMatch UMLS:C5679977 semapv:UnspecifiedMatching MONDO:0017625 familial primary hypomagnesemia with hypocalcuria skos:exactMatch SCTID:711151004 semapv:UnspecifiedMatching MONDO:0017627 congenital hereditary facial paralysis-variable hearing loss syndrome skos:exactMatch MEDGEN:928261 semapv:UnspecifiedMatching MONDO:0017627 congenital hereditary facial paralysis-variable hearing loss syndrome skos:exactMatch Orphanet:306530 Congenital hereditary facial paralysis-variable hearing loss syndrome semapv:UnspecifiedMatching MONDO:0017627 congenital hereditary facial paralysis-variable hearing loss syndrome skos:exactMatch SCTID:722389002 semapv:UnspecifiedMatching MONDO:0017627 congenital hereditary facial paralysis-variable hearing loss syndrome skos:exactMatch UMLS:C4302592 semapv:UnspecifiedMatching MONDO:0017628 myospherulosis skos:exactMatch MEDGEN:507970 semapv:UnspecifiedMatching MONDO:0017628 myospherulosis skos:exactMatch Orphanet:306553 Myospherulosis semapv:UnspecifiedMatching MONDO:0017628 myospherulosis skos:exactMatch SCTID:81139004 semapv:UnspecifiedMatching MONDO:0017628 myospherulosis skos:exactMatch UMLS:C0027123 semapv:UnspecifiedMatching MONDO:0017629 obsolete sodium channelopathy-related small fiber neuropathy skos:exactMatch Orphanet:306577 Hereditary sodium channelopathy-related small fibers neuropathy semapv:UnspecifiedMatching MONDO:0017630 X-linked complicated spastic paraplegia type 1 skos:exactMatch MEDGEN:1843445 semapv:UnspecifiedMatching MONDO:0017630 X-linked complicated spastic paraplegia type 1 skos:exactMatch Orphanet:306617 X-linked complicated spastic paraplegia type 1 semapv:UnspecifiedMatching MONDO:0017630 X-linked complicated spastic paraplegia type 1 skos:exactMatch UMLS:C5779711 semapv:UnspecifiedMatching MONDO:0017631 obsolete rare tumor of gallbladder and extrahepatic biliary tract skos:exactMatch Orphanet:306633 Rare tumor of gallbladder and extrahepatic biliary tract semapv:UnspecifiedMatching MONDO:0017632 obsolete rare tumor of liver and intrahepatic biliary tract skos:exactMatch Orphanet:306636 Rare tumor of liver and intrahepatic biliary tract semapv:UnspecifiedMatching MONDO:0017633 obsolete rare intoxication due to medical products skos:exactMatch Orphanet:306640 Rare intoxication due to medical products semapv:UnspecifiedMatching MONDO:0017634 non-infectious anterior uveitis skos:exactMatch MEDGEN:573080 semapv:UnspecifiedMatching MONDO:0017634 non-infectious anterior uveitis skos:exactMatch Orphanet:306648 Non-infectious anterior uveitis semapv:UnspecifiedMatching MONDO:0017634 non-infectious anterior uveitis skos:exactMatch SCTID:267619000 semapv:UnspecifiedMatching MONDO:0017634 non-infectious anterior uveitis skos:exactMatch UMLS:C0339317 semapv:UnspecifiedMatching MONDO:0017635 obsolete parkinsonian syndrome due to neurodegenerative disease skos:exactMatch Orphanet:306666 Rare parkinsonian syndrome due to neurodegenerative disease semapv:UnspecifiedMatching MONDO:0017636 hemiparkinsonism-hemiatrophy syndrome skos:exactMatch MEDGEN:1627807 semapv:UnspecifiedMatching MONDO:0017636 hemiparkinsonism-hemiatrophy syndrome skos:exactMatch Orphanet:306669 Hemiparkinsonism-hemiatrophy syndrome semapv:UnspecifiedMatching MONDO:0017636 hemiparkinsonism-hemiatrophy syndrome skos:exactMatch UMLS:C4545231 semapv:UnspecifiedMatching MONDO:0017636 hemiparkinsonism-hemiatrophy syndrome skos:exactMatch icd11.foundation:193784690 Hemiparkinsonism hemiatrophy syndrome semapv:UnspecifiedMatching MONDO:0017637 obsolete rare parkinsonian syndrome due to intoxication skos:exactMatch Orphanet:306679 Rare parkinsonian syndrome due to intoxication semapv:UnspecifiedMatching MONDO:0017638 manganese poisoning skos:exactMatch EFO:1001808 semapv:UnspecifiedMatching MONDO:0017638 manganese poisoning skos:exactMatch Orphanet:306682 Manganese poisoning semapv:UnspecifiedMatching MONDO:0017638 manganese poisoning skos:exactMatch SCTID:88687001 semapv:UnspecifiedMatching MONDO:0017638 manganese poisoning skos:exactMatch mesh:D020149 semapv:UnspecifiedMatching MONDO:0017639 carbon monoxide-induced parkinsonism skos:exactMatch MEDGEN:581450 semapv:UnspecifiedMatching MONDO:0017639 carbon monoxide-induced parkinsonism skos:exactMatch Orphanet:306686 Delayed encephalopathy due to carbon monoxide poisoning semapv:UnspecifiedMatching MONDO:0017639 carbon monoxide-induced parkinsonism skos:exactMatch SCTID:230293003 semapv:UnspecifiedMatching MONDO:0017639 carbon monoxide-induced parkinsonism skos:exactMatch UMLS:C0393565 semapv:UnspecifiedMatching MONDO:0017640 cyanide-induced parkinsonism skos:exactMatch MEDGEN:1639789 semapv:UnspecifiedMatching MONDO:0017640 cyanide-induced parkinsonism skos:exactMatch Orphanet:306692 Cyanide-induced parkinsonism-dystonia semapv:UnspecifiedMatching MONDO:0017640 cyanide-induced parkinsonism skos:exactMatch SCTID:766872002 semapv:UnspecifiedMatching MONDO:0017640 cyanide-induced parkinsonism skos:exactMatch UMLS:C4707859 semapv:UnspecifiedMatching MONDO:0017640 cyanide-induced parkinsonism skos:exactMatch icd11.foundation:1717111858 Cyanide-induced Parkinsonism semapv:UnspecifiedMatching MONDO:0017641 obsolete miscellaneous movement disorder due to neurodegenerative disease skos:exactMatch Orphanet:306695 Miscellaneous movement disorder due to neurodegenerative disease semapv:UnspecifiedMatching MONDO:0017643 obsolete frontotemporal neurodegeneration with movement disorder skos:exactMatch Orphanet:306708 Frontotemporal neurodegeneration with movement disorder semapv:UnspecifiedMatching MONDO:0017644 obsolete rare tremor disorder skos:exactMatch Orphanet:306712 Rare tremor disorder semapv:UnspecifiedMatching MONDO:0017645 obsolete rare choreic movement disorder skos:exactMatch Orphanet:306715 Rare choreic movement disorder semapv:UnspecifiedMatching MONDO:0017646 obsolete neurodegenerative disease with chorea skos:exactMatch Orphanet:306719 Neurodegenerative disease with chorea semapv:UnspecifiedMatching MONDO:0017647 obsolete postinfectious autoimmune disease with chorea skos:exactMatch Orphanet:306727 Postinfectious autoimmune disease with chorea semapv:UnspecifiedMatching MONDO:0017648 Sydenham chorea skos:exactMatch MEDGEN:57506 semapv:UnspecifiedMatching MONDO:0017648 Sydenham chorea skos:exactMatch NCIT:C168445 Sydenham Chorea semapv:UnspecifiedMatching MONDO:0017648 Sydenham chorea skos:exactMatch Orphanet:306731 Sydenham chorea semapv:UnspecifiedMatching MONDO:0017648 Sydenham chorea skos:exactMatch UMLS:C0152113 semapv:UnspecifiedMatching MONDO:0017648 Sydenham chorea skos:exactMatch icd11.foundation:1295812812 Sydenham chorea semapv:UnspecifiedMatching MONDO:0017649 hemidystonia-hemiatrophy syndrome skos:exactMatch MEDGEN:1386711 semapv:UnspecifiedMatching MONDO:0017649 hemidystonia-hemiatrophy syndrome skos:exactMatch Orphanet:306741 Hemidystonia-hemiatrophy syndrome semapv:UnspecifiedMatching MONDO:0017649 hemidystonia-hemiatrophy syndrome skos:exactMatch UMLS:C4510649 semapv:UnspecifiedMatching MONDO:0017650 obsolete rare myoclonus skos:exactMatch Orphanet:306747 Rare myoclonus semapv:UnspecifiedMatching MONDO:0017651 obsolete primary myoclonus skos:exactMatch Orphanet:306750 Primary myoclonus semapv:UnspecifiedMatching MONDO:0017652 obsolete rare disease with myoclonus as a major feature skos:exactMatch Orphanet:306753 Rare disease with myoclonus as a major feature semapv:UnspecifiedMatching MONDO:0017653 obsolete epilepsy and/or ataxia with myoclonus as major feature skos:exactMatch Orphanet:306756 Epilepsy and/or ataxia with myoclonus as a major feature semapv:UnspecifiedMatching MONDO:0017654 obsolete non progressive epilepsy and/or ataxia with myoclonus as a major feature skos:exactMatch Orphanet:306759 Non progressive epilepsy and/or ataxia with myoclonus as a major feature semapv:UnspecifiedMatching MONDO:0017655 obsolete progressive epilepsy and/or ataxia with myoclonus as a major feature skos:exactMatch Orphanet:306762 OBSOLETE: Progressive epilepsy and/or ataxia with myoclonus as a major feature semapv:UnspecifiedMatching MONDO:0017656 obsolete motor stereotypies skos:exactMatch Orphanet:306765 Motor stereotypies semapv:UnspecifiedMatching MONDO:0017657 obsolete rare paroxysmal movement disorder skos:exactMatch Orphanet:306768 Rare paroxysmal movement disorder semapv:UnspecifiedMatching MONDO:0017658 hyperekplexia skos:exactMatch MEDGEN:488800 semapv:UnspecifiedMatching MONDO:0017658 hyperekplexia skos:exactMatch Orphanet:306773 Hyperekplexia semapv:UnspecifiedMatching MONDO:0017658 hyperekplexia skos:exactMatch UMLS:C0234166 semapv:UnspecifiedMatching MONDO:0017658 hyperekplexia skos:exactMatch mesh:D000071017 semapv:UnspecifiedMatching MONDO:0017659 sporadic hyperekplexia skos:exactMatch MEDGEN:1683565 semapv:UnspecifiedMatching MONDO:0017659 sporadic hyperekplexia skos:exactMatch Orphanet:306776 Sporadic hyperekplexia semapv:UnspecifiedMatching MONDO:0017659 sporadic hyperekplexia skos:exactMatch UMLS:C5191042 semapv:UnspecifiedMatching MONDO:0017660 obsolete rare genetic parkinsonian disorder skos:exactMatch Orphanet:307052 Rare genetic parkinsonian disorder semapv:UnspecifiedMatching MONDO:0017661 obsolete rare parkinsonian syndrome due to genetic neurodegenerative disease skos:exactMatch Orphanet:307055 Rare parkinsonian syndrome due to genetic neurodegenerative disease semapv:UnspecifiedMatching MONDO:0017662 obsolete miscellaneous movement disorder due to genetic neurodegenerative disease skos:exactMatch Orphanet:307058 Miscellaneous movement disorder due to genetic neurodegenerative disease semapv:UnspecifiedMatching MONDO:0017663 obsolete inherited tremor disorder skos:exactMatch Orphanet:307061 Rare genetic tremor disorder semapv:UnspecifiedMatching MONDO:0017663 obsolete inherited tremor disorder skos:exactMatch Orphanet:307064 Rare genetic myoclonus semapv:UnspecifiedMatching MONDO:0017665 obsolete rare genetic disease with myoclonus as a major feature skos:exactMatch Orphanet:307067 Rare genetic disease with myoclonus as a major feature semapv:UnspecifiedMatching MONDO:0017666 diffuse palmoplantar keratoderma skos:exactMatch MEDGEN:7201 semapv:UnspecifiedMatching MONDO:0017666 diffuse palmoplantar keratoderma skos:exactMatch Orphanet:307141 Diffuse palmoplantar keratoderma semapv:UnspecifiedMatching MONDO:0017666 diffuse palmoplantar keratoderma skos:exactMatch SCTID:400123002 semapv:UnspecifiedMatching MONDO:0017666 diffuse palmoplantar keratoderma skos:exactMatch UMLS:C0022584 semapv:UnspecifiedMatching MONDO:0017666 diffuse palmoplantar keratoderma skos:exactMatch icd11.foundation:1259583500 Diffuse palmoplantar keratodermas semapv:UnspecifiedMatching MONDO:0017667 obsolete isolated diffuse palmoplantar keratoderma skos:exactMatch Orphanet:307148 Isolated diffuse palmoplantar keratoderma semapv:UnspecifiedMatching MONDO:0017668 intellectual disability-short stature-hypertelorism syndrome skos:exactMatch MEDGEN:1665709 semapv:UnspecifiedMatching MONDO:0017668 intellectual disability-short stature-hypertelorism syndrome skos:exactMatch Orphanet:3074 Intellectual disability-short stature-hypertelorism syndrome semapv:UnspecifiedMatching MONDO:0017668 intellectual disability-short stature-hypertelorism syndrome skos:exactMatch UMLS:C4749650 semapv:UnspecifiedMatching MONDO:0017669 obsolete disease with diffuse palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:307711 Disease with diffuse palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching MONDO:0017670 obsolete autosomal dominant diffuse mutilating palmoplantar keratoderma skos:exactMatch Orphanet:307773 Autosomal dominant diffuse mutilating palmoplantar keratoderma semapv:UnspecifiedMatching MONDO:0017671 obsolete autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:307804 Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching MONDO:0017672 focal palmoplantar keratoderma skos:exactMatch MEDGEN:419939 semapv:UnspecifiedMatching MONDO:0017672 focal palmoplantar keratoderma skos:exactMatch Orphanet:307837 Focal palmoplantar keratoderma semapv:UnspecifiedMatching MONDO:0017672 focal palmoplantar keratoderma skos:exactMatch UMLS:C2931923 semapv:UnspecifiedMatching MONDO:0017672 focal palmoplantar keratoderma skos:exactMatch icd11.foundation:1676945961 Focal palmoplantar keratodermas semapv:UnspecifiedMatching MONDO:0017673 obsolete isolated focal palmoplantar keratoderma skos:exactMatch Orphanet:307846 Isolated focal palmoplantar keratoderma semapv:UnspecifiedMatching MONDO:0017674 obsolete disease with focal palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:307871 Disease with focal palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching MONDO:0017675 punctate palmoplantar keratoderma skos:exactMatch DOID:0060361 punctate palmoplantar keratoderma semapv:UnspecifiedMatching MONDO:0017675 punctate palmoplantar keratoderma skos:exactMatch MEDGEN:870406 semapv:UnspecifiedMatching MONDO:0017675 punctate palmoplantar keratoderma skos:exactMatch Orphanet:307967 Punctate palmoplantar keratoderma semapv:UnspecifiedMatching MONDO:0017675 punctate palmoplantar keratoderma skos:exactMatch SCTID:402773000 semapv:UnspecifiedMatching MONDO:0017675 punctate palmoplantar keratoderma skos:exactMatch UMLS:C4024851 semapv:UnspecifiedMatching MONDO:0017675 punctate palmoplantar keratoderma skos:exactMatch icd11.foundation:1212361548 Punctate palmoplantar keratoderma semapv:UnspecifiedMatching MONDO:0017676 obsolete marginal papular palmoplantar keratoderma skos:exactMatch Orphanet:307995 Marginal papular palmoplantar keratoderma semapv:UnspecifiedMatching MONDO:0017677 focal acral hyperkeratosis skos:exactMatch MEDGEN:724380 semapv:UnspecifiedMatching MONDO:0017677 focal acral hyperkeratosis skos:exactMatch Orphanet:308013 Focal acral hyperkeratosis semapv:UnspecifiedMatching MONDO:0017677 focal acral hyperkeratosis skos:exactMatch SCTID:400115004 semapv:UnspecifiedMatching MONDO:0017677 focal acral hyperkeratosis skos:exactMatch UMLS:C1302839 semapv:UnspecifiedMatching MONDO:0017678 obsolete obsolete disease with punctate palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:308023 Disease with punctate palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching MONDO:0017679 obsolete obsolete autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:308031 Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching MONDO:0017680 obsolete autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:308041 Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching MONDO:0017682 intellectual disability-polydactyly-uncombable hair syndrome skos:exactMatch MEDGEN:444082 semapv:UnspecifiedMatching MONDO:0017682 intellectual disability-polydactyly-uncombable hair syndrome skos:exactMatch Orphanet:3082 Intellectual disability-polydactyly-uncombable hair syndrome semapv:UnspecifiedMatching MONDO:0017682 intellectual disability-polydactyly-uncombable hair syndrome skos:exactMatch UMLS:C2931547 semapv:UnspecifiedMatching MONDO:0017682 intellectual disability-polydactyly-uncombable hair syndrome skos:exactMatch mesh:C537615 semapv:UnspecifiedMatching MONDO:0017683 methylcobalamin deficiency type cblDv1 skos:exactMatch MEDGEN:1826168 semapv:UnspecifiedMatching MONDO:0017683 methylcobalamin deficiency type cblDv1 skos:exactMatch Orphanet:308380 Methylcobalamin deficiency type cblDv1 semapv:UnspecifiedMatching MONDO:0017683 methylcobalamin deficiency type cblDv1 skos:exactMatch UMLS:C5679956 semapv:UnspecifiedMatching MONDO:0017684 disorder of beta and omega amino acid metabolism skos:exactMatch MEDGEN:575186 semapv:UnspecifiedMatching MONDO:0017684 disorder of beta and omega amino acid metabolism skos:exactMatch Orphanet:308407 Disorder of beta and omega amino acid metabolism semapv:UnspecifiedMatching MONDO:0017684 disorder of beta and omega amino acid metabolism skos:exactMatch SCTID:237940008 semapv:UnspecifiedMatching MONDO:0017684 disorder of beta and omega amino acid metabolism skos:exactMatch UMLS:C0342707 semapv:UnspecifiedMatching MONDO:0017684 disorder of beta and omega amino acid metabolism skos:exactMatch icd11.foundation:446569334 Disorders of beta or omega amino acid metabolism semapv:UnspecifiedMatching MONDO:0017685 vitamin B12-responsive methylmalonic acidemia, type cblDv2 skos:exactMatch MEDGEN:376388 semapv:UnspecifiedMatching MONDO:0017685 vitamin B12-responsive methylmalonic acidemia, type cblDv2 skos:exactMatch Orphanet:308442 Vitamin B12-responsive methylmalonic acidemia, type cblDv2 semapv:UnspecifiedMatching MONDO:0017685 vitamin B12-responsive methylmalonic acidemia, type cblDv2 skos:exactMatch UMLS:C1848554 semapv:UnspecifiedMatching MONDO:0017686 inborn aminoacylase deficiency skos:exactMatch MEDGEN:1842952 semapv:UnspecifiedMatching MONDO:0017686 inborn aminoacylase deficiency skos:exactMatch Orphanet:308448 Aminoacylase deficiency semapv:UnspecifiedMatching MONDO:0017686 inborn aminoacylase deficiency skos:exactMatch UMLS:C5681074 semapv:UnspecifiedMatching MONDO:0017687 disorder of neutral amino acid transport skos:exactMatch MEDGEN:1863589 semapv:UnspecifiedMatching MONDO:0017687 disorder of neutral amino acid transport skos:exactMatch Orphanet:308451 Disorder of neutral amino acid transport semapv:UnspecifiedMatching MONDO:0017687 disorder of neutral amino acid transport skos:exactMatch UMLS:C5848149 semapv:UnspecifiedMatching MONDO:0017688 disorder of glycolysis skos:exactMatch MEDGEN:1825948 semapv:UnspecifiedMatching MONDO:0017688 disorder of glycolysis skos:exactMatch Orphanet:308459 Disorder of glycolysis semapv:UnspecifiedMatching MONDO:0017688 disorder of glycolysis skos:exactMatch UMLS:C5681073 semapv:UnspecifiedMatching MONDO:0017689 disorder of fructose metabolism skos:exactMatch MEDGEN:575202 semapv:UnspecifiedMatching MONDO:0017689 disorder of fructose metabolism skos:exactMatch Orphanet:308463 Disorder of fructose metabolism semapv:UnspecifiedMatching MONDO:0017689 disorder of fructose metabolism skos:exactMatch SCTID:39452003 semapv:UnspecifiedMatching MONDO:0017689 disorder of fructose metabolism skos:exactMatch UMLS:C0342744 semapv:UnspecifiedMatching MONDO:0017689 disorder of fructose metabolism skos:exactMatch icd11.foundation:596254627 Disorders of fructose metabolism semapv:UnspecifiedMatching MONDO:0017690 disorder of galactose metabolism skos:exactMatch MEDGEN:575203 semapv:UnspecifiedMatching MONDO:0017690 disorder of galactose metabolism skos:exactMatch Orphanet:308467 Disorder of galactose metabolism semapv:UnspecifiedMatching MONDO:0017690 disorder of galactose metabolism skos:exactMatch SCTID:237963003 semapv:UnspecifiedMatching MONDO:0017690 disorder of galactose metabolism skos:exactMatch UMLS:C0342745 semapv:UnspecifiedMatching MONDO:0017690 disorder of galactose metabolism skos:exactMatch icd11.foundation:1462194012 Disorders of galactose metabolism semapv:UnspecifiedMatching MONDO:0017691 erythrocyte galactose epimerase deficiency skos:exactMatch MEDGEN:657805 semapv:UnspecifiedMatching MONDO:0017691 erythrocyte galactose epimerase deficiency skos:exactMatch Orphanet:308473 Erythrocyte galactose epimerase deficiency semapv:UnspecifiedMatching MONDO:0017691 erythrocyte galactose epimerase deficiency skos:exactMatch SCTID:297238008 semapv:UnspecifiedMatching MONDO:0017691 erythrocyte galactose epimerase deficiency skos:exactMatch UMLS:C0574090 semapv:UnspecifiedMatching MONDO:0017692 generalized galactose epimerase deficiency skos:exactMatch MEDGEN:657804 semapv:UnspecifiedMatching MONDO:0017692 generalized galactose epimerase deficiency skos:exactMatch Orphanet:308487 Generalized galactose epimerase deficiency semapv:UnspecifiedMatching MONDO:0017692 generalized galactose epimerase deficiency skos:exactMatch SCTID:297237003 semapv:UnspecifiedMatching MONDO:0017692 generalized galactose epimerase deficiency skos:exactMatch UMLS:C0574089 semapv:UnspecifiedMatching MONDO:0017693 obsolete glycogen storage disease due to glycogen synthase deficiency skos:exactMatch Orphanet:308520 Glycogen storage disease due to glycogen synthase deficiency semapv:UnspecifiedMatching MONDO:0017694 glycogen storage disease due to acid maltase deficiency, infantile onset skos:exactMatch MEDGEN:923868 semapv:UnspecifiedMatching MONDO:0017694 glycogen storage disease due to acid maltase deficiency, infantile onset skos:exactMatch OMIM:232300 pompe disease, infantile-onset semapv:UnspecifiedMatching MONDO:0017694 glycogen storage disease due to acid maltase deficiency, infantile onset skos:exactMatch Orphanet:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset semapv:UnspecifiedMatching MONDO:0017694 glycogen storage disease due to acid maltase deficiency, infantile onset skos:exactMatch SCTID:722302009 semapv:UnspecifiedMatching MONDO:0017694 glycogen storage disease due to acid maltase deficiency, infantile onset skos:exactMatch UMLS:C3888924 semapv:UnspecifiedMatching MONDO:0017694 glycogen storage disease due to acid maltase deficiency, infantile onset skos:exactMatch icd11.foundation:1496243702 Glycogen storage disease due to acid maltase deficiency, infantile onset semapv:UnspecifiedMatching MONDO:0017695 glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form skos:exactMatch MEDGEN:1826169 semapv:UnspecifiedMatching MONDO:0017695 glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form skos:exactMatch Orphanet:308621 Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form semapv:UnspecifiedMatching MONDO:0017695 glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form skos:exactMatch UMLS:C5679972 semapv:UnspecifiedMatching MONDO:0017696 glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form skos:exactMatch MEDGEN:344701 semapv:UnspecifiedMatching MONDO:0017696 glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form skos:exactMatch Orphanet:308638 Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form semapv:UnspecifiedMatching MONDO:0017696 glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form skos:exactMatch UMLS:C1856302 semapv:UnspecifiedMatching MONDO:0017697 glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form skos:exactMatch MEDGEN:383883 semapv:UnspecifiedMatching MONDO:0017697 glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form skos:exactMatch Orphanet:308655 Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form semapv:UnspecifiedMatching MONDO:0017697 glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form skos:exactMatch UMLS:C1856303 semapv:UnspecifiedMatching MONDO:0017698 glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form skos:exactMatch MEDGEN:343523 semapv:UnspecifiedMatching MONDO:0017698 glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form skos:exactMatch Orphanet:308670 Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form semapv:UnspecifiedMatching MONDO:0017698 glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form skos:exactMatch UMLS:C1856304 semapv:UnspecifiedMatching MONDO:0017699 glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form skos:exactMatch MEDGEN:1842442 semapv:UnspecifiedMatching MONDO:0017699 glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form skos:exactMatch Orphanet:308684 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form semapv:UnspecifiedMatching MONDO:0017699 glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form skos:exactMatch UMLS:C5679969 semapv:UnspecifiedMatching MONDO:0017700 glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form skos:exactMatch MEDGEN:343524 semapv:UnspecifiedMatching MONDO:0017700 glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form skos:exactMatch Orphanet:308698 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form semapv:UnspecifiedMatching MONDO:0017700 glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form skos:exactMatch UMLS:C1856305 semapv:UnspecifiedMatching MONDO:0017701 glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form skos:exactMatch MEDGEN:343525 semapv:UnspecifiedMatching MONDO:0017701 glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form skos:exactMatch Orphanet:308712 Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form semapv:UnspecifiedMatching MONDO:0017701 glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form skos:exactMatch UMLS:C1856306 semapv:UnspecifiedMatching MONDO:0017703 disorder of glyoxylate metabolism skos:exactMatch MEDGEN:1842247 semapv:UnspecifiedMatching MONDO:0017703 disorder of glyoxylate metabolism skos:exactMatch Orphanet:308998 Disorder of glyoxylate metabolism semapv:UnspecifiedMatching MONDO:0017703 disorder of glyoxylate metabolism skos:exactMatch UMLS:C5681070 semapv:UnspecifiedMatching MONDO:0017703 disorder of glyoxylate metabolism skos:exactMatch icd11.foundation:1800430868 Disorders of glyoxylate metabolism semapv:UnspecifiedMatching MONDO:0017704 familial partial epilepsy skos:exactMatch MEDGEN:1826100 semapv:UnspecifiedMatching MONDO:0017704 familial partial epilepsy skos:exactMatch Orphanet:309 Familial partial epilepsy semapv:UnspecifiedMatching MONDO:0017704 familial partial epilepsy skos:exactMatch UMLS:C5680862 semapv:UnspecifiedMatching MONDO:0017705 congenital pulmonary venous return anomaly skos:exactMatch MEDGEN:539577 semapv:UnspecifiedMatching MONDO:0017705 congenital pulmonary venous return anomaly skos:exactMatch Orphanet:3090 Congenital pulmonary venous return anomaly semapv:UnspecifiedMatching MONDO:0017705 congenital pulmonary venous return anomaly skos:exactMatch UMLS:C0265916 semapv:UnspecifiedMatching MONDO:0017706 disorder of carbohydrate transmembrane transport and absorption skos:exactMatch MEDGEN:1842168 semapv:UnspecifiedMatching MONDO:0017706 disorder of carbohydrate transmembrane transport and absorption skos:exactMatch Orphanet:309001 Disorder of carbohydrate absorption and transport semapv:UnspecifiedMatching MONDO:0017706 disorder of carbohydrate transmembrane transport and absorption skos:exactMatch UMLS:C5681069 semapv:UnspecifiedMatching MONDO:0017706 disorder of carbohydrate transmembrane transport and absorption skos:exactMatch icd11.foundation:1315315105 Disorders of carbohydrate absorption or transport semapv:UnspecifiedMatching MONDO:0017708 mevalonate kinase deficiency skos:exactMatch MEDGEN:87453 semapv:UnspecifiedMatching MONDO:0017708 mevalonate kinase deficiency skos:exactMatch Orphanet:309025 Mevalonate kinase deficiency semapv:UnspecifiedMatching MONDO:0017708 mevalonate kinase deficiency skos:exactMatch UMLS:C0342731 semapv:UnspecifiedMatching MONDO:0017708 mevalonate kinase deficiency skos:exactMatch icd11.foundation:772056052 Mevalonate kinase deficiency semapv:UnspecifiedMatching MONDO:0017708 mevalonate kinase deficiency skos:exactMatch mesh:D054078 semapv:UnspecifiedMatching MONDO:0017709 obsolete disorder of lipid absorption and transport skos:exactMatch Orphanet:309028 Disorder of lipid absorption and transport semapv:UnspecifiedMatching MONDO:0017709 obsolete disorder of lipid absorption and transport skos:exactMatch icd11.foundation:1858691234 Disorders of lipid absorption or transport semapv:UnspecifiedMatching MONDO:0017710 obsolete congenital systemic veins anomaly skos:exactMatch Orphanet:3091 Congenital systemic veins anomaly semapv:UnspecifiedMatching MONDO:0017711 pancreatic colipase deficiency skos:exactMatch MEDGEN:452357 semapv:UnspecifiedMatching MONDO:0017711 pancreatic colipase deficiency skos:exactMatch Orphanet:309108 Pancreatic colipase deficiency semapv:UnspecifiedMatching MONDO:0017711 pancreatic colipase deficiency skos:exactMatch SCTID:69478001 semapv:UnspecifiedMatching MONDO:0017711 pancreatic colipase deficiency skos:exactMatch UMLS:C0268241 semapv:UnspecifiedMatching MONDO:0017711 pancreatic colipase deficiency skos:exactMatch icd11.foundation:11281354 Pancreatic colipase deficiency semapv:UnspecifiedMatching MONDO:0017712 combined pancreatic lipase-colipase deficiency skos:exactMatch MEDGEN:1631148 semapv:UnspecifiedMatching MONDO:0017712 combined pancreatic lipase-colipase deficiency skos:exactMatch Orphanet:309111 Combined pancreatic lipase-colipase deficiency semapv:UnspecifiedMatching MONDO:0017712 combined pancreatic lipase-colipase deficiency skos:exactMatch UMLS:C4706317 semapv:UnspecifiedMatching MONDO:0017713 disorder of fatty acid oxidation and ketogenesis skos:exactMatch MEDGEN:1843280 semapv:UnspecifiedMatching MONDO:0017713 disorder of fatty acid oxidation and ketogenesis skos:exactMatch Orphanet:309115 Disorder of fatty acid oxidation and ketogenesis semapv:UnspecifiedMatching MONDO:0017713 disorder of fatty acid oxidation and ketogenesis skos:exactMatch UMLS:C5681071 semapv:UnspecifiedMatching MONDO:0017713 disorder of fatty acid oxidation and ketogenesis skos:exactMatch icd11.foundation:1861994414 Disorders of mitochondrial fatty acid oxidation semapv:UnspecifiedMatching MONDO:0017714 acyl-CoA dehydrogenase deficiency skos:exactMatch MEDGEN:541378 semapv:UnspecifiedMatching MONDO:0017714 acyl-CoA dehydrogenase deficiency skos:exactMatch Orphanet:309120 Acyl-CoA dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0017714 acyl-CoA dehydrogenase deficiency skos:exactMatch SCTID:82319005 semapv:UnspecifiedMatching MONDO:0017714 acyl-CoA dehydrogenase deficiency skos:exactMatch UMLS:C0268635 semapv:UnspecifiedMatching MONDO:0017715 3-hydroxyacyl-CoA dehydrogenase deficiency skos:exactMatch MEDGEN:266222 semapv:UnspecifiedMatching MONDO:0017715 3-hydroxyacyl-CoA dehydrogenase deficiency skos:exactMatch OMIM:231530 3-hydroxyacyl-coa dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0017715 3-hydroxyacyl-CoA dehydrogenase deficiency skos:exactMatch Orphanet:309127 3-hydroxyacyl-CoA dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0017715 3-hydroxyacyl-CoA dehydrogenase deficiency skos:exactMatch UMLS:C1291230 semapv:UnspecifiedMatching MONDO:0017715 3-hydroxyacyl-CoA dehydrogenase deficiency skos:exactMatch mesh:C535310 semapv:UnspecifiedMatching MONDO:0017716 disorder of carnitine cycle and carnitine transport skos:exactMatch MEDGEN:1842227 semapv:UnspecifiedMatching MONDO:0017716 disorder of carnitine cycle and carnitine transport skos:exactMatch Orphanet:309130 Disorder of carnitine cycle and carnitine transport semapv:UnspecifiedMatching MONDO:0017716 disorder of carnitine cycle and carnitine transport skos:exactMatch UMLS:C5681080 semapv:UnspecifiedMatching MONDO:0017716 disorder of carnitine cycle and carnitine transport skos:exactMatch icd11.foundation:890605309 Disorders of carnitine transport or the carnitine cycle semapv:UnspecifiedMatching MONDO:0017717 obsolete metabolic disease due to other fatty acid oxidation disorder skos:exactMatch Orphanet:309133 Metabolic disease due to other fatty acid oxidation disorder semapv:UnspecifiedMatching MONDO:0017718 obsolete mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes skos:exactMatch Orphanet:309136 Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes semapv:UnspecifiedMatching MONDO:0017719 gangliosidosis skos:exactMatch DOID:2368 gangliosidosis semapv:UnspecifiedMatching MONDO:0017719 gangliosidosis skos:exactMatch MEDGEN:42149 semapv:UnspecifiedMatching MONDO:0017719 gangliosidosis skos:exactMatch Orphanet:309144 Gangliosidosis semapv:UnspecifiedMatching MONDO:0017719 gangliosidosis skos:exactMatch SCTID:50967008 semapv:UnspecifiedMatching MONDO:0017719 gangliosidosis skos:exactMatch UMLS:C0017083 semapv:UnspecifiedMatching MONDO:0017719 gangliosidosis skos:exactMatch icd11.foundation:797306953 Gangliosidosis semapv:UnspecifiedMatching MONDO:0017720 GM2 gangliosidosis skos:exactMatch DOID:3321 GM2 gangliosidosis semapv:UnspecifiedMatching MONDO:0017720 GM2 gangliosidosis skos:exactMatch ICD10CM:E75.0 GM2 gangliosidosis semapv:UnspecifiedMatching MONDO:0017720 GM2 gangliosidosis skos:exactMatch MEDGEN:78656 semapv:UnspecifiedMatching MONDO:0017720 GM2 gangliosidosis skos:exactMatch Orphanet:309152 GM2 gangliosidosis semapv:UnspecifiedMatching MONDO:0017720 GM2 gangliosidosis skos:exactMatch SCTID:33316007 semapv:UnspecifiedMatching MONDO:0017720 GM2 gangliosidosis skos:exactMatch UMLS:C0268274 semapv:UnspecifiedMatching MONDO:0017720 GM2 gangliosidosis skos:exactMatch icd11.foundation:1513691830 GM2 gangliosidosis semapv:UnspecifiedMatching MONDO:0017720 GM2 gangliosidosis skos:exactMatch mesh:D020143 semapv:UnspecifiedMatching MONDO:0017721 Sandhoff disease, infantile form skos:exactMatch MEDGEN:199669 semapv:UnspecifiedMatching MONDO:0017721 Sandhoff disease, infantile form skos:exactMatch Orphanet:309155 Sandhoff disease, infantile form semapv:UnspecifiedMatching MONDO:0017721 Sandhoff disease, infantile form skos:exactMatch SCTID:238018004 semapv:UnspecifiedMatching MONDO:0017721 Sandhoff disease, infantile form skos:exactMatch UMLS:C0751490 semapv:UnspecifiedMatching MONDO:0017722 Sandhoff disease, juvenile form skos:exactMatch MEDGEN:148320 semapv:UnspecifiedMatching MONDO:0017722 Sandhoff disease, juvenile form skos:exactMatch Orphanet:309162 Sandhoff disease, juvenile form semapv:UnspecifiedMatching MONDO:0017722 Sandhoff disease, juvenile form skos:exactMatch SCTID:238019007 semapv:UnspecifiedMatching MONDO:0017722 Sandhoff disease, juvenile form skos:exactMatch UMLS:C0751491 semapv:UnspecifiedMatching MONDO:0017723 Sandhoff disease, adult form skos:exactMatch MEDGEN:148319 semapv:UnspecifiedMatching MONDO:0017723 Sandhoff disease, adult form skos:exactMatch Orphanet:309169 Sandhoff disease, adult form semapv:UnspecifiedMatching MONDO:0017723 Sandhoff disease, adult form skos:exactMatch SCTID:238020001 semapv:UnspecifiedMatching MONDO:0017723 Sandhoff disease, adult form skos:exactMatch UMLS:C0751489 semapv:UnspecifiedMatching MONDO:0017724 Tay-Sachs disease, b variant, infantile form skos:exactMatch MEDGEN:1863558 semapv:UnspecifiedMatching MONDO:0017724 Tay-Sachs disease, b variant, infantile form skos:exactMatch Orphanet:309178 Tay-Sachs disease, infantile form semapv:UnspecifiedMatching MONDO:0017724 Tay-Sachs disease, b variant, infantile form skos:exactMatch SCTID:238021002 semapv:UnspecifiedMatching MONDO:0017724 Tay-Sachs disease, b variant, infantile form skos:exactMatch UMLS:C5925031 semapv:UnspecifiedMatching MONDO:0017725 Tay-Sachs disease, b variant, juvenile form skos:exactMatch MEDGEN:1863740 semapv:UnspecifiedMatching MONDO:0017725 Tay-Sachs disease, b variant, juvenile form skos:exactMatch Orphanet:309185 Tay-Sachs disease, juvenile form semapv:UnspecifiedMatching MONDO:0017725 Tay-Sachs disease, b variant, juvenile form skos:exactMatch SCTID:238022009 semapv:UnspecifiedMatching MONDO:0017725 Tay-Sachs disease, b variant, juvenile form skos:exactMatch UMLS:C5925030 semapv:UnspecifiedMatching MONDO:0017726 Tay-Sachs disease, B variant, adult form skos:exactMatch MEDGEN:336450 semapv:UnspecifiedMatching MONDO:0017726 Tay-Sachs disease, B variant, adult form skos:exactMatch Orphanet:309192 Tay-Sachs disease, adult form semapv:UnspecifiedMatching MONDO:0017726 Tay-Sachs disease, B variant, adult form skos:exactMatch SCTID:238023004 semapv:UnspecifiedMatching MONDO:0017726 Tay-Sachs disease, B variant, adult form skos:exactMatch UMLS:C1848914 semapv:UnspecifiedMatching MONDO:0017727 fixed subaortic stenosis skos:exactMatch MEDGEN:539538 semapv:UnspecifiedMatching MONDO:0017727 fixed subaortic stenosis skos:exactMatch Orphanet:3092 Fixed subaortic stenosis semapv:UnspecifiedMatching MONDO:0017727 fixed subaortic stenosis skos:exactMatch UMLS:C0265853 semapv:UnspecifiedMatching MONDO:0017727 fixed subaortic stenosis skos:exactMatch icd11.foundation:1471062257 Fixed subaortic stenosis semapv:UnspecifiedMatching MONDO:0017728 Tay-Sachs disease, B1 variant skos:exactMatch MEDGEN:336452 semapv:UnspecifiedMatching MONDO:0017728 Tay-Sachs disease, B1 variant skos:exactMatch SCTID:238024005 semapv:UnspecifiedMatching MONDO:0017728 Tay-Sachs disease, B1 variant skos:exactMatch UMLS:C1848916 semapv:UnspecifiedMatching MONDO:0017729 metachromatic leukodystrophy, late infantile form skos:exactMatch MEDGEN:155529 semapv:UnspecifiedMatching MONDO:0017729 metachromatic leukodystrophy, late infantile form skos:exactMatch Orphanet:309256 Metachromatic leukodystrophy, late infantile form semapv:UnspecifiedMatching MONDO:0017729 metachromatic leukodystrophy, late infantile form skos:exactMatch SCTID:47683004 semapv:UnspecifiedMatching MONDO:0017729 metachromatic leukodystrophy, late infantile form skos:exactMatch UMLS:C0751278 semapv:UnspecifiedMatching MONDO:0017730 metachromatic leukodystrophy, adult form skos:exactMatch MEDGEN:199625 semapv:UnspecifiedMatching MONDO:0017730 metachromatic leukodystrophy, adult form skos:exactMatch Orphanet:309271 Metachromatic leukodystrophy, adult form semapv:UnspecifiedMatching MONDO:0017730 metachromatic leukodystrophy, adult form skos:exactMatch SCTID:24326000 semapv:UnspecifiedMatching MONDO:0017730 metachromatic leukodystrophy, adult form skos:exactMatch UMLS:C0751279 semapv:UnspecifiedMatching MONDO:0017731 glycoproteinosis skos:exactMatch MEDGEN:1842769 semapv:UnspecifiedMatching MONDO:0017731 glycoproteinosis skos:exactMatch Orphanet:309279 Glycoproteinosis semapv:UnspecifiedMatching MONDO:0017731 glycoproteinosis skos:exactMatch UMLS:C5681075 semapv:UnspecifiedMatching MONDO:0017731 glycoproteinosis skos:exactMatch icd11.foundation:979972142 Glycoproteinosis semapv:UnspecifiedMatching MONDO:0017732 alpha-mannosidosis, infantile form skos:exactMatch MEDGEN:575250 semapv:UnspecifiedMatching MONDO:0017732 alpha-mannosidosis, infantile form skos:exactMatch Orphanet:309282 Alpha-mannosidosis, infantile form semapv:UnspecifiedMatching MONDO:0017732 alpha-mannosidosis, infantile form skos:exactMatch UMLS:C0342847 semapv:UnspecifiedMatching MONDO:0017733 alpha-mannosidosis, adult form skos:exactMatch MEDGEN:1843432 semapv:UnspecifiedMatching MONDO:0017733 alpha-mannosidosis, adult form skos:exactMatch Orphanet:309288 Alpha-mannosidosis, adult form semapv:UnspecifiedMatching MONDO:0017733 alpha-mannosidosis, adult form skos:exactMatch SCTID:58112007 semapv:UnspecifiedMatching MONDO:0017733 alpha-mannosidosis, adult form skos:exactMatch UMLS:C5679974 semapv:UnspecifiedMatching MONDO:0017734 sialidosis skos:exactMatch MEDGEN:120621 semapv:UnspecifiedMatching MONDO:0017734 sialidosis skos:exactMatch Orphanet:309294 Sialidosis semapv:UnspecifiedMatching MONDO:0017734 sialidosis skos:exactMatch SCTID:38795005 semapv:UnspecifiedMatching MONDO:0017734 sialidosis skos:exactMatch UMLS:C0268226 semapv:UnspecifiedMatching MONDO:0017734 sialidosis skos:exactMatch icd11.foundation:1180347697 Sialidosis semapv:UnspecifiedMatching MONDO:0017735 congenital aortic valve stenosis skos:exactMatch MEDGEN:509030 semapv:UnspecifiedMatching MONDO:0017735 congenital aortic valve stenosis skos:exactMatch Orphanet:3093 Congenital aortic valve stenosis semapv:UnspecifiedMatching MONDO:0017735 congenital aortic valve stenosis skos:exactMatch SCTID:18546004 semapv:UnspecifiedMatching MONDO:0017735 congenital aortic valve stenosis skos:exactMatch UMLS:C0152417 semapv:UnspecifiedMatching MONDO:0017735 congenital aortic valve stenosis skos:exactMatch icd11.foundation:1824398514 Congenital aortic valvar stenosis semapv:UnspecifiedMatching MONDO:0017736 disorder of sialic acid metabolism skos:exactMatch MEDGEN:575253 semapv:UnspecifiedMatching MONDO:0017736 disorder of sialic acid metabolism skos:exactMatch Orphanet:309319 Disorder of sialic acid metabolism semapv:UnspecifiedMatching MONDO:0017736 disorder of sialic acid metabolism skos:exactMatch SCTID:238050009 semapv:UnspecifiedMatching MONDO:0017736 disorder of sialic acid metabolism skos:exactMatch UMLS:C0342851 semapv:UnspecifiedMatching MONDO:0017736 disorder of sialic acid metabolism skos:exactMatch icd11.foundation:1709765980 Disorders of sialic acid metabolism semapv:UnspecifiedMatching MONDO:0017737 intermediate severe Salla disease skos:exactMatch MEDGEN:1843217 semapv:UnspecifiedMatching MONDO:0017737 intermediate severe Salla disease skos:exactMatch Orphanet:309331 Intermediate severe Salla disease semapv:UnspecifiedMatching MONDO:0017737 intermediate severe Salla disease skos:exactMatch UMLS:C5681076 semapv:UnspecifiedMatching MONDO:0017738 lysosomal glycogen storage disease skos:exactMatch MEDGEN:1842699 semapv:UnspecifiedMatching MONDO:0017738 lysosomal glycogen storage disease skos:exactMatch Orphanet:309337 Lysosomal glycogen storage disease semapv:UnspecifiedMatching MONDO:0017738 lysosomal glycogen storage disease skos:exactMatch UMLS:C5681077 semapv:UnspecifiedMatching MONDO:0017739 disorder of lysosomal-related organelles skos:exactMatch MEDGEN:1826110 semapv:UnspecifiedMatching MONDO:0017739 disorder of lysosomal-related organelles skos:exactMatch Orphanet:309340 Disorder of lysosomal-related organelles semapv:UnspecifiedMatching MONDO:0017739 disorder of lysosomal-related organelles skos:exactMatch UMLS:C5681043 semapv:UnspecifiedMatching MONDO:0017740 disorder of protein N-glycosylation skos:exactMatch MEDGEN:1826111 semapv:UnspecifiedMatching MONDO:0017740 disorder of protein N-glycosylation skos:exactMatch Orphanet:309347 Disorder of protein N-glycosylation semapv:UnspecifiedMatching MONDO:0017740 disorder of protein N-glycosylation skos:exactMatch UMLS:C5681044 semapv:UnspecifiedMatching MONDO:0017740 disorder of protein N-glycosylation skos:exactMatch icd11.foundation:292641586 Disorders of protein N-glycosylation semapv:UnspecifiedMatching MONDO:0017741 disorder of protein O-glycosylation skos:exactMatch MEDGEN:1842631 semapv:UnspecifiedMatching MONDO:0017741 disorder of protein O-glycosylation skos:exactMatch Orphanet:309447 Disorder of protein O-glycosylation semapv:UnspecifiedMatching MONDO:0017741 disorder of protein O-glycosylation skos:exactMatch UMLS:C5681041 semapv:UnspecifiedMatching MONDO:0017741 disorder of protein O-glycosylation skos:exactMatch icd11.foundation:1883085871 Disorders of protein O-glycosylation semapv:UnspecifiedMatching MONDO:0017742 obsolete disorder of O-xylosylglycan synthesis skos:exactMatch Orphanet:309450 Disorder of O-xylosylglycan synthesis semapv:UnspecifiedMatching MONDO:0017743 obsolete disorder of O-N-acetylgalactosaminylglycan synthesis skos:exactMatch Orphanet:309458 Disorder of O-N-acetylgalactosaminylglycan synthesis semapv:UnspecifiedMatching MONDO:0017744 obsolete disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis skos:exactMatch Orphanet:309463 Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis semapv:UnspecifiedMatching MONDO:0017745 obsolete disorder of O-mannosylglycan synthesis skos:exactMatch Orphanet:309469 Disorder of O-mannosylglycan synthesis semapv:UnspecifiedMatching MONDO:0017746 atypical Rett syndrome skos:exactMatch MEDGEN:440664 semapv:UnspecifiedMatching MONDO:0017746 atypical Rett syndrome skos:exactMatch Orphanet:3095 Atypical Rett syndrome semapv:UnspecifiedMatching MONDO:0017746 atypical Rett syndrome skos:exactMatch SCTID:718393002 semapv:UnspecifiedMatching MONDO:0017746 atypical Rett syndrome skos:exactMatch UMLS:C2748910 semapv:UnspecifiedMatching MONDO:0017746 atypical Rett syndrome skos:exactMatch icd11.foundation:605088126 Atypical Rett syndrome semapv:UnspecifiedMatching MONDO:0017747 disorder of fucoglycosan synthesis skos:exactMatch MEDGEN:1843205 semapv:UnspecifiedMatching MONDO:0017747 disorder of fucoglycosan synthesis skos:exactMatch Orphanet:309505 Disorder of fucoglycosan synthesis semapv:UnspecifiedMatching MONDO:0017747 disorder of fucoglycosan synthesis skos:exactMatch UMLS:C5681046 semapv:UnspecifiedMatching MONDO:0017748 inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation skos:exactMatch MEDGEN:1842274 semapv:UnspecifiedMatching MONDO:0017748 inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation skos:exactMatch Orphanet:309515 Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation semapv:UnspecifiedMatching MONDO:0017748 inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation skos:exactMatch UMLS:C5679954 semapv:UnspecifiedMatching MONDO:0017749 disorder of multiple glycosylation skos:exactMatch MEDGEN:1843364 semapv:UnspecifiedMatching MONDO:0017749 disorder of multiple glycosylation skos:exactMatch Orphanet:309526 Disorder of multiple glycosylation semapv:UnspecifiedMatching MONDO:0017749 disorder of multiple glycosylation skos:exactMatch UMLS:C5681039 semapv:UnspecifiedMatching MONDO:0017749 disorder of multiple glycosylation skos:exactMatch icd11.foundation:684473574 Disorders of multiple glycosylation or other pathways semapv:UnspecifiedMatching MONDO:0017750 defect in conserved oligomeric Golgi complex skos:exactMatch MEDGEN:1843352 semapv:UnspecifiedMatching MONDO:0017750 defect in conserved oligomeric Golgi complex skos:exactMatch Orphanet:309568 Defect in conserved oligomeric Golgi complex semapv:UnspecifiedMatching MONDO:0017750 defect in conserved oligomeric Golgi complex skos:exactMatch UMLS:C5679953 semapv:UnspecifiedMatching MONDO:0017752 defect in V-ATPase skos:exactMatch MEDGEN:1842740 semapv:UnspecifiedMatching MONDO:0017752 defect in V-ATPase skos:exactMatch Orphanet:309778 Defect in V-ATPase semapv:UnspecifiedMatching MONDO:0017752 defect in V-ATPase skos:exactMatch UMLS:C5681038 semapv:UnspecifiedMatching MONDO:0017753 obsolete disorder of peroxisomal alpha-, beta- and omega-oxidation skos:exactMatch Orphanet:309810 Disorder of peroxisomal alpha-, beta- and omega-oxidation semapv:UnspecifiedMatching MONDO:0017753 obsolete disorder of peroxisomal alpha-, beta- and omega-oxidation skos:exactMatch icd11.foundation:1092479335 Disorders of peroxisomal alpha-, beta- or omega-oxidation semapv:UnspecifiedMatching MONDO:0017754 inborn disorder of porphyrin metabolism skos:exactMatch Orphanet:309813 Disorder of porphyrin and heme metabolism semapv:UnspecifiedMatching MONDO:0017754 inborn disorder of porphyrin metabolism skos:exactMatch SCTID:403832004 semapv:UnspecifiedMatching MONDO:0017755 inborn disorder of bilirubin metabolism skos:exactMatch MEDGEN:1671515 semapv:UnspecifiedMatching MONDO:0017755 inborn disorder of bilirubin metabolism skos:exactMatch Orphanet:309816 Disorder of bilirubin metabolism and excretion semapv:UnspecifiedMatching MONDO:0017755 inborn disorder of bilirubin metabolism skos:exactMatch UMLS:C0349427 semapv:UnspecifiedMatching MONDO:0017755 inborn disorder of bilirubin metabolism skos:exactMatch icd11.foundation:1297666279 Disorders of bilirubin metabolism or excretion semapv:UnspecifiedMatching MONDO:0017756 obsolete disorder of pterin metabolism skos:exactMatch Orphanet:309819 Disorder of pterin metabolism semapv:UnspecifiedMatching MONDO:0017756 obsolete disorder of pterin metabolism skos:exactMatch icd11.foundation:1801446733 Disorders of pterin metabolism semapv:UnspecifiedMatching MONDO:0017757 disorder of metabolite absorption and transport skos:exactMatch MEDGEN:1842202 semapv:UnspecifiedMatching MONDO:0017757 disorder of metabolite absorption and transport skos:exactMatch Orphanet:309824 Disorder of metabolite absorption and transport semapv:UnspecifiedMatching MONDO:0017757 disorder of metabolite absorption and transport skos:exactMatch UMLS:C5681033 semapv:UnspecifiedMatching MONDO:0017758 disorder of vitamin and non-protein cofactor absorption and transport skos:exactMatch MEDGEN:1842689 semapv:UnspecifiedMatching MONDO:0017758 disorder of vitamin and non-protein cofactor absorption and transport skos:exactMatch Orphanet:309827 Disorder of vitamin and non-protein cofactor absorption and transport semapv:UnspecifiedMatching MONDO:0017758 disorder of vitamin and non-protein cofactor absorption and transport skos:exactMatch UMLS:C5681037 semapv:UnspecifiedMatching MONDO:0017758 disorder of vitamin and non-protein cofactor absorption and transport skos:exactMatch icd11.foundation:1112006621 Disorders of vitamin or non-protein cofactor absorption or transport semapv:UnspecifiedMatching MONDO:0017759 disorder of catecholamine synthesis skos:exactMatch MEDGEN:575179 semapv:UnspecifiedMatching MONDO:0017759 disorder of catecholamine synthesis skos:exactMatch Orphanet:309830 Disorder of catecholamine synthesis semapv:UnspecifiedMatching MONDO:0017759 disorder of catecholamine synthesis skos:exactMatch SCTID:237921002 semapv:UnspecifiedMatching MONDO:0017759 disorder of catecholamine synthesis skos:exactMatch UMLS:C0342685 semapv:UnspecifiedMatching MONDO:0017759 disorder of catecholamine synthesis skos:exactMatch icd11.foundation:1382276026 Disorders of catecholamine synthesis semapv:UnspecifiedMatching MONDO:0017760 obsolete disorder of other vitamins and cofactors metabolism and transport skos:exactMatch Orphanet:309833 Disorder of other vitamins and cofactors metabolism and transport semapv:UnspecifiedMatching MONDO:0017761 disorder of mineral absorption and transport skos:exactMatch MEDGEN:1842552 semapv:UnspecifiedMatching MONDO:0017761 disorder of mineral absorption and transport skos:exactMatch Orphanet:309836 Disorder of mineral absorption and transport semapv:UnspecifiedMatching MONDO:0017761 disorder of mineral absorption and transport skos:exactMatch UMLS:C5681035 semapv:UnspecifiedMatching MONDO:0017761 disorder of mineral absorption and transport skos:exactMatch icd11.foundation:1833416892 Disorders of mineral absorption or transport semapv:UnspecifiedMatching MONDO:0017762 disorder of copper metabolism skos:exactMatch MEDGEN:507647 semapv:UnspecifiedMatching MONDO:0017762 disorder of copper metabolism skos:exactMatch Orphanet:309839 Disorder of copper metabolism semapv:UnspecifiedMatching MONDO:0017762 disorder of copper metabolism skos:exactMatch SCTID:79886009 semapv:UnspecifiedMatching MONDO:0017762 disorder of copper metabolism skos:exactMatch UMLS:C0012714 semapv:UnspecifiedMatching MONDO:0017762 disorder of copper metabolism skos:exactMatch icd11.foundation:1926278296 Disorders of copper metabolism semapv:UnspecifiedMatching MONDO:0017763 disorder of iron metabolism and transport skos:exactMatch MEDGEN:1826109 semapv:UnspecifiedMatching MONDO:0017763 disorder of iron metabolism and transport skos:exactMatch Orphanet:309842 Disorder of iron metabolism and transport semapv:UnspecifiedMatching MONDO:0017763 disorder of iron metabolism and transport skos:exactMatch UMLS:C5681031 semapv:UnspecifiedMatching MONDO:0017764 disorder of zinc metabolism skos:exactMatch MEDGEN:541182 semapv:UnspecifiedMatching MONDO:0017764 disorder of zinc metabolism skos:exactMatch Orphanet:309845 Disorder of zinc metabolism and transport semapv:UnspecifiedMatching MONDO:0017764 disorder of zinc metabolism skos:exactMatch SCTID:46727001 semapv:UnspecifiedMatching MONDO:0017764 disorder of zinc metabolism skos:exactMatch UMLS:C0268085 semapv:UnspecifiedMatching MONDO:0017765 disorder of magnesium transport skos:exactMatch MEDGEN:1842842 semapv:UnspecifiedMatching MONDO:0017765 disorder of magnesium transport skos:exactMatch Orphanet:309848 Disorder of magnesium transport semapv:UnspecifiedMatching MONDO:0017765 disorder of magnesium transport skos:exactMatch UMLS:C5681030 semapv:UnspecifiedMatching MONDO:0017766 disorder of manganese transport skos:exactMatch MEDGEN:1843191 semapv:UnspecifiedMatching MONDO:0017766 disorder of manganese transport skos:exactMatch Orphanet:309851 Disorder of manganese transport semapv:UnspecifiedMatching MONDO:0017766 disorder of manganese transport skos:exactMatch UMLS:C5681032 semapv:UnspecifiedMatching MONDO:0017767 rheumatic fever skos:exactMatch DOID:1586 rheumatic fever semapv:UnspecifiedMatching MONDO:0017767 rheumatic fever skos:exactMatch EFO:1001160 semapv:UnspecifiedMatching MONDO:0017767 rheumatic fever skos:exactMatch ICD10CM:I00-I02 Acute rheumatic fever (I00-I02) semapv:UnspecifiedMatching MONDO:0017767 rheumatic fever skos:exactMatch MEDGEN:48448 semapv:UnspecifiedMatching MONDO:0017767 rheumatic fever skos:exactMatch NCIT:C34984 Rheumatic Fever semapv:UnspecifiedMatching MONDO:0017767 rheumatic fever skos:exactMatch Orphanet:3099 Rheumatic fever semapv:UnspecifiedMatching MONDO:0017767 rheumatic fever skos:exactMatch SCTID:58718002 semapv:UnspecifiedMatching MONDO:0017767 rheumatic fever skos:exactMatch UMLS:C0035436 semapv:UnspecifiedMatching MONDO:0017767 rheumatic fever skos:exactMatch mesh:D012213 semapv:UnspecifiedMatching MONDO:0017768 reflex epilepsy skos:exactMatch DOID:2548 reflex epilepsy semapv:UnspecifiedMatching MONDO:0017768 reflex epilepsy skos:exactMatch EFO:1001146 semapv:UnspecifiedMatching MONDO:0017768 reflex epilepsy skos:exactMatch MEDGEN:75726 semapv:UnspecifiedMatching MONDO:0017768 reflex epilepsy skos:exactMatch NCIT:C85041 Reflex Epilepsy semapv:UnspecifiedMatching MONDO:0017768 reflex epilepsy skos:exactMatch Orphanet:310 Reflex epilepsy semapv:UnspecifiedMatching MONDO:0017768 reflex epilepsy skos:exactMatch SCTID:79745005 semapv:UnspecifiedMatching MONDO:0017768 reflex epilepsy skos:exactMatch UMLS:C0270857 semapv:UnspecifiedMatching MONDO:0017768 reflex epilepsy skos:exactMatch icd11.foundation:276807111 Reflex epilepsies semapv:UnspecifiedMatching MONDO:0017768 reflex epilepsy skos:exactMatch mesh:D020195 semapv:UnspecifiedMatching MONDO:0017769 acquired immunodeficiency skos:exactMatch MEDGEN:1843453 semapv:UnspecifiedMatching MONDO:0017769 acquired immunodeficiency skos:exactMatch Orphanet:310050 Acquired immunodeficiency semapv:UnspecifiedMatching MONDO:0017769 acquired immunodeficiency skos:exactMatch UMLS:C0596032 semapv:UnspecifiedMatching MONDO:0017769 acquired immunodeficiency skos:exactMatch icd11.foundation:609223181 Acquired immunodeficiencies semapv:UnspecifiedMatching MONDO:0017770 obsolete Robinow-like syndrome skos:exactMatch Orphanet:3105 Robinow-like syndrome semapv:UnspecifiedMatching MONDO:0017770 obsolete Robinow-like syndrome skos:exactMatch SCTID:721905000 semapv:UnspecifiedMatching MONDO:0017771 Mayer-Rokitansky-Kuster-Hauser syndrome skos:exactMatch DOID:0112177 Mayer-Rokitansky-Kuster-Hauser syndrome semapv:UnspecifiedMatching MONDO:0017771 Mayer-Rokitansky-Kuster-Hauser syndrome skos:exactMatch MEDGEN:140915 semapv:UnspecifiedMatching MONDO:0017771 Mayer-Rokitansky-Kuster-Hauser syndrome skos:exactMatch NCIT:C124853 Mayer-Rokitansky-Kuster-Hauser Syndrome semapv:UnspecifiedMatching MONDO:0017771 Mayer-Rokitansky-Kuster-Hauser syndrome skos:exactMatch Orphanet:3109 Mayer-Rokitansky-Küster-Hauser syndrome semapv:UnspecifiedMatching MONDO:0017771 Mayer-Rokitansky-Kuster-Hauser syndrome skos:exactMatch SCTID:8793008 semapv:UnspecifiedMatching MONDO:0017771 Mayer-Rokitansky-Kuster-Hauser syndrome skos:exactMatch UMLS:C0431648 semapv:UnspecifiedMatching MONDO:0017773 hypoalphalipoproteinemia skos:exactMatch MEDGEN:57731 semapv:UnspecifiedMatching MONDO:0017773 hypoalphalipoproteinemia skos:exactMatch NCIT:C84774 Hypoalphalipoproteinemia semapv:UnspecifiedMatching MONDO:0017773 hypoalphalipoproteinemia skos:exactMatch Orphanet:31153 Hypoalphalipoproteinemia semapv:UnspecifiedMatching MONDO:0017773 hypoalphalipoproteinemia skos:exactMatch SCTID:190785000 semapv:UnspecifiedMatching MONDO:0017773 hypoalphalipoproteinemia skos:exactMatch UMLS:C0151691 semapv:UnspecifiedMatching MONDO:0017773 hypoalphalipoproteinemia skos:exactMatch icd11.foundation:1731667610 Hypoalphalipoproteinaemia semapv:UnspecifiedMatching MONDO:0017773 hypoalphalipoproteinemia skos:exactMatch mesh:D052456 semapv:UnspecifiedMatching MONDO:0017774 hypobetalipoproteinemia skos:exactMatch DOID:1390 hypobetalipoproteinemia semapv:UnspecifiedMatching MONDO:0017774 hypobetalipoproteinemia skos:exactMatch MEDGEN:6978 semapv:UnspecifiedMatching MONDO:0017774 hypobetalipoproteinemia skos:exactMatch Orphanet:31154 Hypobetalipoproteinemia semapv:UnspecifiedMatching MONDO:0017774 hypobetalipoproteinemia skos:exactMatch SCTID:190786004 semapv:UnspecifiedMatching MONDO:0017774 hypobetalipoproteinemia skos:exactMatch UMLS:C0020597 semapv:UnspecifiedMatching MONDO:0017774 hypobetalipoproteinemia skos:exactMatch icd11.foundation:1934975006 Hypobetalipoproteinaemia semapv:UnspecifiedMatching MONDO:0017774 hypobetalipoproteinemia skos:exactMatch mesh:D006995 semapv:UnspecifiedMatching MONDO:0017775 melioidosis skos:exactMatch DOID:5052 melioidosis semapv:UnspecifiedMatching MONDO:0017775 melioidosis skos:exactMatch MEDGEN:44346 semapv:UnspecifiedMatching MONDO:0017775 melioidosis skos:exactMatch NCIT:C128336 Melioidosis semapv:UnspecifiedMatching MONDO:0017775 melioidosis skos:exactMatch Orphanet:31202 Melioidosis semapv:UnspecifiedMatching MONDO:0017775 melioidosis skos:exactMatch SCTID:186312003 semapv:UnspecifiedMatching MONDO:0017775 melioidosis skos:exactMatch UMLS:C0025229 semapv:UnspecifiedMatching MONDO:0017775 melioidosis skos:exactMatch icd11.foundation:2129350166 Melioidosis semapv:UnspecifiedMatching MONDO:0017775 melioidosis skos:exactMatch mesh:D008554 semapv:UnspecifiedMatching MONDO:0017776 nocardiosis skos:exactMatch DOID:2312 nocardiosis semapv:UnspecifiedMatching MONDO:0017776 nocardiosis skos:exactMatch EFO:0007397 semapv:UnspecifiedMatching MONDO:0017776 nocardiosis skos:exactMatch ICD10CM:A43 Nocardiosis semapv:UnspecifiedMatching MONDO:0017776 nocardiosis skos:exactMatch ICD10WHO:A43 Nocardiosis semapv:UnspecifiedMatching MONDO:0017776 nocardiosis skos:exactMatch MEDGEN:18067 semapv:UnspecifiedMatching MONDO:0017776 nocardiosis skos:exactMatch NCIT:C171147 Nocardiosis semapv:UnspecifiedMatching MONDO:0017776 nocardiosis skos:exactMatch Orphanet:31204 Nocardiosis semapv:UnspecifiedMatching MONDO:0017776 nocardiosis skos:exactMatch SCTID:29227009 semapv:UnspecifiedMatching MONDO:0017776 nocardiosis skos:exactMatch UMLS:C0028242 semapv:UnspecifiedMatching MONDO:0017776 nocardiosis skos:exactMatch icd11.foundation:6555116 Nocardiosis semapv:UnspecifiedMatching MONDO:0017776 nocardiosis skos:exactMatch mesh:D009617 semapv:UnspecifiedMatching MONDO:0017778 lamellar ichthyosis skos:exactMatch ICD10CM:Q80.2 Lamellar ichthyosis semapv:UnspecifiedMatching MONDO:0017778 lamellar ichthyosis skos:exactMatch MEDGEN:1852191 semapv:UnspecifiedMatching MONDO:0017778 lamellar ichthyosis skos:exactMatch NCIT:C84805 Lamellar Ichthyosis semapv:UnspecifiedMatching MONDO:0017778 lamellar ichthyosis skos:exactMatch Orphanet:313 Lamellar ichthyosis semapv:UnspecifiedMatching MONDO:0017778 lamellar ichthyosis skos:exactMatch UMLS:C5848247 semapv:UnspecifiedMatching MONDO:0017778 lamellar ichthyosis skos:exactMatch icd11.foundation:600146417 Lamellar ichthyosis semapv:UnspecifiedMatching MONDO:0017779 alpha-N-acetylgalactosaminidase deficiency skos:exactMatch DOID:0112317 Schindler disease semapv:UnspecifiedMatching MONDO:0017779 alpha-N-acetylgalactosaminidase deficiency skos:exactMatch MEDGEN:1845666 semapv:UnspecifiedMatching MONDO:0017779 alpha-N-acetylgalactosaminidase deficiency skos:exactMatch Orphanet:3137 Alpha-N-acetylgalactosaminidase deficiency semapv:UnspecifiedMatching MONDO:0017779 alpha-N-acetylgalactosaminidase deficiency skos:exactMatch SCTID:238048001 semapv:UnspecifiedMatching MONDO:0017779 alpha-N-acetylgalactosaminidase deficiency skos:exactMatch UMLS:C5848084 semapv:UnspecifiedMatching MONDO:0017779 alpha-N-acetylgalactosaminidase deficiency skos:exactMatch icd11.foundation:1647881428 Alpha-N-acetylgalactosaminidase deficiency semapv:UnspecifiedMatching MONDO:0017780 20p13 microdeletion syndrome skos:exactMatch MEDGEN:1655817 semapv:UnspecifiedMatching MONDO:0017780 20p13 microdeletion syndrome skos:exactMatch Orphanet:313781 20p13 microdeletion syndrome semapv:UnspecifiedMatching MONDO:0017780 20p13 microdeletion syndrome skos:exactMatch UMLS:C4750789 semapv:UnspecifiedMatching MONDO:0017781 12p12.1 microdeletion syndrome skos:exactMatch MEDGEN:1652598 semapv:UnspecifiedMatching MONDO:0017781 12p12.1 microdeletion syndrome skos:exactMatch Orphanet:313884 12p12.1 microdeletion syndrome semapv:UnspecifiedMatching MONDO:0017781 12p12.1 microdeletion syndrome skos:exactMatch UMLS:C4755260 semapv:UnspecifiedMatching MONDO:0017782 developmental and speech delay due to SOX5 deficiency skos:exactMatch MEDGEN:1660895 semapv:UnspecifiedMatching MONDO:0017782 developmental and speech delay due to SOX5 deficiency skos:exactMatch Orphanet:313892 Developmental and speech delay due to SOX5 deficiency semapv:UnspecifiedMatching MONDO:0017782 developmental and speech delay due to SOX5 deficiency skos:exactMatch UMLS:C4749915 semapv:UnspecifiedMatching MONDO:0017783 congenital pancreatic cyst skos:exactMatch ICD10CM:Q45.2 Congenital pancreatic cyst semapv:UnspecifiedMatching MONDO:0017783 congenital pancreatic cyst skos:exactMatch MEDGEN:574418 semapv:UnspecifiedMatching MONDO:0017783 congenital pancreatic cyst skos:exactMatch Orphanet:313906 Congenital pancreatic cyst semapv:UnspecifiedMatching MONDO:0017783 congenital pancreatic cyst skos:exactMatch SCTID:204808002 semapv:UnspecifiedMatching MONDO:0017783 congenital pancreatic cyst skos:exactMatch UMLS:C0341480 semapv:UnspecifiedMatching MONDO:0017783 congenital pancreatic cyst skos:exactMatch icd11.foundation:981856956 Congenital pancreatic cyst semapv:UnspecifiedMatching MONDO:0017784 Epstein-Barr virus-associated gastric carcinoma skos:exactMatch MEDGEN:896878 semapv:UnspecifiedMatching MONDO:0017784 Epstein-Barr virus-associated gastric carcinoma skos:exactMatch NCIT:C162304 EBV-Related Gastric Carcinoma semapv:UnspecifiedMatching MONDO:0017784 Epstein-Barr virus-associated gastric carcinoma skos:exactMatch Orphanet:313920 Epstein-Barr virus-associated gastric carcinoma semapv:UnspecifiedMatching MONDO:0017784 Epstein-Barr virus-associated gastric carcinoma skos:exactMatch SCTID:716586009 semapv:UnspecifiedMatching MONDO:0017784 Epstein-Barr virus-associated gastric carcinoma skos:exactMatch UMLS:C4274414 semapv:UnspecifiedMatching MONDO:0017785 PENS syndrome skos:exactMatch MEDGEN:1654469 semapv:UnspecifiedMatching MONDO:0017785 PENS syndrome skos:exactMatch Orphanet:313936 PENS syndrome semapv:UnspecifiedMatching MONDO:0017785 PENS syndrome skos:exactMatch UMLS:C4749916 semapv:UnspecifiedMatching MONDO:0017786 2q23.1 microduplication syndrome skos:exactMatch MEDGEN:1647644 semapv:UnspecifiedMatching MONDO:0017786 2q23.1 microduplication syndrome skos:exactMatch Orphanet:313947 2q23.1 microduplication syndrome semapv:UnspecifiedMatching MONDO:0017786 2q23.1 microduplication syndrome skos:exactMatch SCTID:766816008 semapv:UnspecifiedMatching MONDO:0017786 2q23.1 microduplication syndrome skos:exactMatch UMLS:C4707847 semapv:UnspecifiedMatching MONDO:0017787 erythroderma desquamativum skos:exactMatch MEDGEN:1790529 semapv:UnspecifiedMatching MONDO:0017787 erythroderma desquamativum skos:exactMatch Orphanet:314 Erythroderma desquamativum semapv:UnspecifiedMatching MONDO:0017787 erythroderma desquamativum skos:exactMatch UMLS:C5551904 semapv:UnspecifiedMatching MONDO:0017787 erythroderma desquamativum skos:exactMatch mesh:C535512 semapv:UnspecifiedMatching MONDO:0017788 contractures - webbed neck - micrognathia - hypoplastic nipples syndrome skos:exactMatch MEDGEN:1661787 semapv:UnspecifiedMatching MONDO:0017788 contractures - webbed neck - micrognathia - hypoplastic nipples syndrome skos:exactMatch Orphanet:314002 Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome semapv:UnspecifiedMatching MONDO:0017788 contractures - webbed neck - micrognathia - hypoplastic nipples syndrome skos:exactMatch UMLS:C4751075 semapv:UnspecifiedMatching MONDO:0017789 idiopathic linear interstitial keratitis skos:exactMatch MEDGEN:1653609 semapv:UnspecifiedMatching MONDO:0017789 idiopathic linear interstitial keratitis skos:exactMatch Orphanet:314017 Idiopathic linear interstitial keratitis semapv:UnspecifiedMatching MONDO:0017789 idiopathic linear interstitial keratitis skos:exactMatch UMLS:C4751438 semapv:UnspecifiedMatching MONDO:0017790 gastric adenocarcinoma and proximal polyposis of the stomach skos:exactMatch MEDGEN:1657285 semapv:UnspecifiedMatching MONDO:0017790 gastric adenocarcinoma and proximal polyposis of the stomach skos:exactMatch NCIT:C172989 Gastric Adenocarcinoma and Proximal Polyposis of the Stomach semapv:UnspecifiedMatching MONDO:0017790 gastric adenocarcinoma and proximal polyposis of the stomach skos:exactMatch OMIM:619182 gastric adenocarcinoma and proximal polyposis of the stomach semapv:UnspecifiedMatching MONDO:0017790 gastric adenocarcinoma and proximal polyposis of the stomach skos:exactMatch Orphanet:314022 Gastric adenocarcinoma and proximal polyposis of the stomach semapv:UnspecifiedMatching MONDO:0017790 gastric adenocarcinoma and proximal polyposis of the stomach skos:exactMatch UMLS:C4749917 semapv:UnspecifiedMatching MONDO:0017791 high bone mass osteogenesis imperfecta skos:exactMatch MEDGEN:1672817 semapv:UnspecifiedMatching MONDO:0017791 high bone mass osteogenesis imperfecta skos:exactMatch Orphanet:314029 High bone mass osteogenesis imperfecta semapv:UnspecifiedMatching MONDO:0017791 high bone mass osteogenesis imperfecta skos:exactMatch UMLS:C5190607 semapv:UnspecifiedMatching MONDO:0017792 7p22.1 microduplication syndrome skos:exactMatch MEDGEN:1641886 semapv:UnspecifiedMatching MONDO:0017792 7p22.1 microduplication syndrome skos:exactMatch Orphanet:314034 7p22.1 microduplication syndrome semapv:UnspecifiedMatching MONDO:0017792 7p22.1 microduplication syndrome skos:exactMatch SCTID:764703002 semapv:UnspecifiedMatching MONDO:0017792 7p22.1 microduplication syndrome skos:exactMatch UMLS:C4707093 semapv:UnspecifiedMatching MONDO:0017793 marfanoid habitus-inguinal hernia-advanced bone age syndrome skos:exactMatch MEDGEN:1684094 semapv:UnspecifiedMatching MONDO:0017793 marfanoid habitus-inguinal hernia-advanced bone age syndrome skos:exactMatch Orphanet:314041 Marfanoid habitus-inguinal hernia-advanced bone age syndrome semapv:UnspecifiedMatching MONDO:0017793 marfanoid habitus-inguinal hernia-advanced bone age syndrome skos:exactMatch UMLS:C5190606 semapv:UnspecifiedMatching MONDO:0017794 Xq12-q13.3 duplication syndrome skos:exactMatch MEDGEN:1648034 semapv:UnspecifiedMatching MONDO:0017794 Xq12-q13.3 duplication syndrome skos:exactMatch Orphanet:314389 Xq12-q13.3 duplication syndrome semapv:UnspecifiedMatching MONDO:0017794 Xq12-q13.3 duplication syndrome skos:exactMatch SCTID:764711007 semapv:UnspecifiedMatching MONDO:0017794 Xq12-q13.3 duplication syndrome skos:exactMatch UMLS:C4707094 semapv:UnspecifiedMatching MONDO:0017795 ameloblastoma skos:exactMatch DOID:0050894 ameloblastoma semapv:UnspecifiedMatching MONDO:0017795 ameloblastoma skos:exactMatch MEDGEN:1457 semapv:UnspecifiedMatching MONDO:0017795 ameloblastoma skos:exactMatch NCIT:C4313 Ameloblastoma semapv:UnspecifiedMatching MONDO:0017795 ameloblastoma skos:exactMatch Orphanet:314419 Ameloblastoma semapv:UnspecifiedMatching MONDO:0017795 ameloblastoma skos:exactMatch SCTID:285311001 semapv:UnspecifiedMatching MONDO:0017795 ameloblastoma skos:exactMatch UMLS:C0002448 semapv:UnspecifiedMatching MONDO:0017795 ameloblastoma skos:exactMatch mesh:D000564 semapv:UnspecifiedMatching MONDO:0017797 obsolete rare odontologic tumor skos:exactMatch Orphanet:314425 Rare odontogenic tumor semapv:UnspecifiedMatching MONDO:0017798 Spigelian hernia-cryptorchidism syndrome skos:exactMatch MEDGEN:1662076 semapv:UnspecifiedMatching MONDO:0017798 Spigelian hernia-cryptorchidism syndrome skos:exactMatch Orphanet:314432 Spigelian hernia-cryptorchidism syndrome semapv:UnspecifiedMatching MONDO:0017798 Spigelian hernia-cryptorchidism syndrome skos:exactMatch UMLS:C4751074 semapv:UnspecifiedMatching MONDO:0017799 Meigs syndrome skos:exactMatch MEDGEN:6287 semapv:UnspecifiedMatching MONDO:0017799 Meigs syndrome skos:exactMatch NCIT:C3223 Meigs Syndrome semapv:UnspecifiedMatching MONDO:0017799 Meigs syndrome skos:exactMatch Orphanet:314451 Meigs syndrome semapv:UnspecifiedMatching MONDO:0017799 Meigs syndrome skos:exactMatch SCTID:63402005 semapv:UnspecifiedMatching MONDO:0017799 Meigs syndrome skos:exactMatch UMLS:C0025184 semapv:UnspecifiedMatching MONDO:0017799 Meigs syndrome skos:exactMatch icd11.foundation:1050919535 Meigs' syndrome semapv:UnspecifiedMatching MONDO:0017799 Meigs syndrome skos:exactMatch mesh:D008539 semapv:UnspecifiedMatching MONDO:0017800 pseudo-Meigs syndrome skos:exactMatch MEDGEN:1678402 semapv:UnspecifiedMatching MONDO:0017800 pseudo-Meigs syndrome skos:exactMatch Orphanet:314459 Pseudo-Meigs syndrome semapv:UnspecifiedMatching MONDO:0017800 pseudo-Meigs syndrome skos:exactMatch UMLS:C5190824 semapv:UnspecifiedMatching MONDO:0017801 atypical Meigs syndrome skos:exactMatch MEDGEN:1676202 semapv:UnspecifiedMatching MONDO:0017801 atypical Meigs syndrome skos:exactMatch Orphanet:314466 Atypical Meigs syndrome semapv:UnspecifiedMatching MONDO:0017801 atypical Meigs syndrome skos:exactMatch UMLS:C5190605 semapv:UnspecifiedMatching MONDO:0017802 ovarian fibrothecoma skos:exactMatch MEDGEN:1635957 semapv:UnspecifiedMatching MONDO:0017802 ovarian fibrothecoma skos:exactMatch Orphanet:314478 Ovarian fibrothecoma semapv:UnspecifiedMatching MONDO:0017802 ovarian fibrothecoma skos:exactMatch SCTID:765190005 semapv:UnspecifiedMatching MONDO:0017802 ovarian fibrothecoma skos:exactMatch UMLS:C4707356 semapv:UnspecifiedMatching MONDO:0017803 primary progressive apraxia of speech skos:exactMatch MEDGEN:1876485 semapv:UnspecifiedMatching MONDO:0017803 primary progressive apraxia of speech skos:exactMatch Orphanet:314566 Primary progressive apraxia of speech semapv:UnspecifiedMatching MONDO:0017803 primary progressive apraxia of speech skos:exactMatch UMLS:C5979991 semapv:UnspecifiedMatching MONDO:0017804 autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome skos:exactMatch MEDGEN:1654941 semapv:UnspecifiedMatching MONDO:0017804 autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome skos:exactMatch Orphanet:314572 Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome semapv:UnspecifiedMatching MONDO:0017804 autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome skos:exactMatch UMLS:C4749919 semapv:UnspecifiedMatching MONDO:0017805 intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome skos:exactMatch MEDGEN:1655593 semapv:UnspecifiedMatching MONDO:0017805 intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome skos:exactMatch Orphanet:314575 Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome semapv:UnspecifiedMatching MONDO:0017805 intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome skos:exactMatch UMLS:C4751073 semapv:UnspecifiedMatching MONDO:0017806 15q overgrowth syndrome skos:exactMatch MEDGEN:1661769 semapv:UnspecifiedMatching MONDO:0017806 15q overgrowth syndrome skos:exactMatch Orphanet:314585 15q overgrowth syndrome semapv:UnspecifiedMatching MONDO:0017806 15q overgrowth syndrome skos:exactMatch UMLS:C4749920 semapv:UnspecifiedMatching MONDO:0017807 growing teratoma syndrome skos:exactMatch MEDGEN:856083 semapv:UnspecifiedMatching MONDO:0017807 growing teratoma syndrome skos:exactMatch NCIT:C118370 Growing Teratoma Syndrome semapv:UnspecifiedMatching MONDO:0017807 growing teratoma syndrome skos:exactMatch Orphanet:314613 Growing teratoma syndrome semapv:UnspecifiedMatching MONDO:0017807 growing teratoma syndrome skos:exactMatch UMLS:C3891714 semapv:UnspecifiedMatching MONDO:0017808 duplication of the pituitary gland skos:exactMatch MEDGEN:1663161 semapv:UnspecifiedMatching MONDO:0017808 duplication of the pituitary gland skos:exactMatch Orphanet:314621 Duplication of the pituitary gland semapv:UnspecifiedMatching MONDO:0017808 duplication of the pituitary gland skos:exactMatch UMLS:C4755258 semapv:UnspecifiedMatching MONDO:0017809 parkinsonism due to ATP13A2 deficiency skos:exactMatch MEDGEN:1687881 semapv:UnspecifiedMatching MONDO:0017809 parkinsonism due to ATP13A2 deficiency skos:exactMatch Orphanet:314632 CLN12 disease semapv:UnspecifiedMatching MONDO:0017809 parkinsonism due to ATP13A2 deficiency skos:exactMatch SCTID:789657008 semapv:UnspecifiedMatching MONDO:0017809 parkinsonism due to ATP13A2 deficiency skos:exactMatch UMLS:C5230619 semapv:UnspecifiedMatching MONDO:0017810 variant ABeta2M amyloidosis skos:exactMatch DOID:0080929 variant ABeta2M amyloidosis semapv:UnspecifiedMatching MONDO:0017810 variant ABeta2M amyloidosis skos:exactMatch MEDGEN:928338 semapv:UnspecifiedMatching MONDO:0017810 variant ABeta2M amyloidosis skos:exactMatch Orphanet:314652 Variant ABeta2M amyloidosis semapv:UnspecifiedMatching MONDO:0017810 variant ABeta2M amyloidosis skos:exactMatch SCTID:722292000 semapv:UnspecifiedMatching MONDO:0017810 variant ABeta2M amyloidosis skos:exactMatch UMLS:C4302669 semapv:UnspecifiedMatching MONDO:0017810 variant ABeta2M amyloidosis skos:exactMatch icd11.foundation:1466418791 Variant ABeta2M amyloidosis semapv:UnspecifiedMatching MONDO:0017811 severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion skos:exactMatch MEDGEN:1636705 semapv:UnspecifiedMatching MONDO:0017811 severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion skos:exactMatch Orphanet:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion semapv:UnspecifiedMatching MONDO:0017811 severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion skos:exactMatch SCTID:768555009 semapv:UnspecifiedMatching MONDO:0017811 severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion skos:exactMatch UMLS:C4708510 semapv:UnspecifiedMatching MONDO:0017812 segmental progressive overgrowth syndrome with fibroadipose hyperplasia skos:exactMatch MEDGEN:1673986 semapv:UnspecifiedMatching MONDO:0017812 segmental progressive overgrowth syndrome with fibroadipose hyperplasia skos:exactMatch Orphanet:314662 Segmental progressive overgrowth syndrome with fibroadipose hyperplasia semapv:UnspecifiedMatching MONDO:0017812 segmental progressive overgrowth syndrome with fibroadipose hyperplasia skos:exactMatch UMLS:C5192432 semapv:UnspecifiedMatching MONDO:0017813 van Maldergem syndrome skos:exactMatch DOID:0060238 Van Maldergem syndrome semapv:UnspecifiedMatching MONDO:0017813 van Maldergem syndrome skos:exactMatch MEDGEN:318616 semapv:UnspecifiedMatching MONDO:0017813 van Maldergem syndrome skos:exactMatch OMIMPS:601390 Van Maldergem syndrome semapv:UnspecifiedMatching MONDO:0017813 van Maldergem syndrome skos:exactMatch Orphanet:314679 Cerebrofacioarticular syndrome semapv:UnspecifiedMatching MONDO:0017813 van Maldergem syndrome skos:exactMatch UMLS:C1832390 semapv:UnspecifiedMatching MONDO:0017814 primary bone lymphoma skos:exactMatch DOID:6759 bone lymphoma semapv:UnspecifiedMatching MONDO:0017814 primary bone lymphoma skos:exactMatch MEDGEN:231451 semapv:UnspecifiedMatching MONDO:0017814 primary bone lymphoma skos:exactMatch NCIT:C6620 Primary Bone Lymphoma semapv:UnspecifiedMatching MONDO:0017814 primary bone lymphoma skos:exactMatch Orphanet:314684 Primary bone lymphoma semapv:UnspecifiedMatching MONDO:0017814 primary bone lymphoma skos:exactMatch SCTID:766935007 semapv:UnspecifiedMatching MONDO:0017814 primary bone lymphoma skos:exactMatch UMLS:C1332582 semapv:UnspecifiedMatching MONDO:0017815 acquired porencephaly skos:exactMatch MEDGEN:508833 semapv:UnspecifiedMatching MONDO:0017815 acquired porencephaly skos:exactMatch Orphanet:314697 Acquired porencephaly semapv:UnspecifiedMatching MONDO:0017815 acquired porencephaly skos:exactMatch SCTID:38837006 semapv:UnspecifiedMatching MONDO:0017815 acquired porencephaly skos:exactMatch UMLS:C0151860 semapv:UnspecifiedMatching MONDO:0017816 primary systemic amyloidosis skos:exactMatch MEDGEN:129028 semapv:UnspecifiedMatching MONDO:0017816 primary systemic amyloidosis skos:exactMatch NCIT:C8299 Primary Systemic Amyloidosis semapv:UnspecifiedMatching MONDO:0017816 primary systemic amyloidosis skos:exactMatch Orphanet:314701 Primary systemic amyloidosis semapv:UnspecifiedMatching MONDO:0017816 primary systemic amyloidosis skos:exactMatch SCTID:89449005 semapv:UnspecifiedMatching MONDO:0017816 primary systemic amyloidosis skos:exactMatch UMLS:C0281479 semapv:UnspecifiedMatching MONDO:0017817 primary localized amyloidosis skos:exactMatch MEDGEN:107462 semapv:UnspecifiedMatching MONDO:0017817 primary localized amyloidosis skos:exactMatch Orphanet:314709 Primary localized amyloidosis semapv:UnspecifiedMatching MONDO:0017817 primary localized amyloidosis skos:exactMatch UMLS:C0544840 semapv:UnspecifiedMatching MONDO:0017818 lethal arteriopathy syndrome due to fibulin-4 deficiency skos:exactMatch MEDGEN:1673111 semapv:UnspecifiedMatching MONDO:0017818 lethal arteriopathy syndrome due to fibulin-4 deficiency skos:exactMatch Orphanet:314718 Lethal arteriopathy syndrome due to fibulin-4 deficiency semapv:UnspecifiedMatching MONDO:0017818 lethal arteriopathy syndrome due to fibulin-4 deficiency skos:exactMatch UMLS:C5190604 semapv:UnspecifiedMatching MONDO:0017819 atypical dentin dysplasia due to SMOC2 deficiency skos:exactMatch MEDGEN:1673452 semapv:UnspecifiedMatching MONDO:0017819 atypical dentin dysplasia due to SMOC2 deficiency skos:exactMatch OMIM:125400 dentin dysplasia, type 1a semapv:UnspecifiedMatching MONDO:0017819 atypical dentin dysplasia due to SMOC2 deficiency skos:exactMatch Orphanet:314721 Atypical dentin dysplasia due to SMOC2 deficiency semapv:UnspecifiedMatching MONDO:0017819 atypical dentin dysplasia due to SMOC2 deficiency skos:exactMatch UMLS:C5190802 semapv:UnspecifiedMatching MONDO:0017820 obsolete obsolete disease with Cushing syndrome as a major feature skos:exactMatch Orphanet:314749 Rare disease with adrenal Cushing syndrome as a major feature semapv:UnspecifiedMatching MONDO:0017822 mixed functioning pituitary adenoma skos:exactMatch MEDGEN:577354 semapv:UnspecifiedMatching MONDO:0017822 mixed functioning pituitary adenoma skos:exactMatch Orphanet:314759 Mixed functioning pituitary adenoma semapv:UnspecifiedMatching MONDO:0017822 mixed functioning pituitary adenoma skos:exactMatch SCTID:254961003 semapv:UnspecifiedMatching MONDO:0017822 mixed functioning pituitary adenoma skos:exactMatch UMLS:C0346305 semapv:UnspecifiedMatching MONDO:0017823 somatomammotropinoma skos:exactMatch MEDGEN:1649254 semapv:UnspecifiedMatching MONDO:0017823 somatomammotropinoma skos:exactMatch NCIT:C45928 Mammosomatotroph Pituitary Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO:0017823 somatomammotropinoma skos:exactMatch Orphanet:314769 Somatomammotropinoma semapv:UnspecifiedMatching MONDO:0017823 somatomammotropinoma skos:exactMatch UMLS:C4755297 semapv:UnspecifiedMatching MONDO:0017824 familial isolated pituitary adenoma skos:exactMatch MEDGEN:436629 semapv:UnspecifiedMatching MONDO:0017824 familial isolated pituitary adenoma skos:exactMatch OMIMPS:102200 Pituitary adenoma semapv:UnspecifiedMatching MONDO:0017824 familial isolated pituitary adenoma skos:exactMatch Orphanet:314777 Familial isolated pituitary adenoma semapv:UnspecifiedMatching MONDO:0017824 familial isolated pituitary adenoma skos:exactMatch SCTID:702375004 semapv:UnspecifiedMatching MONDO:0017824 familial isolated pituitary adenoma skos:exactMatch UMLS:C2676191 semapv:UnspecifiedMatching MONDO:0017825 silent pituitary adenoma skos:exactMatch MEDGEN:90850 semapv:UnspecifiedMatching MONDO:0017825 silent pituitary adenoma skos:exactMatch Orphanet:314786 Silent pituitary adenoma semapv:UnspecifiedMatching MONDO:0017825 silent pituitary adenoma skos:exactMatch UMLS:C0338078 semapv:UnspecifiedMatching MONDO:0017826 null pituitary adenoma skos:exactMatch MEDGEN:1813085 semapv:UnspecifiedMatching MONDO:0017826 null pituitary adenoma skos:exactMatch NCIT:C45924 Null Cell Pituitary Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO:0017826 null pituitary adenoma skos:exactMatch Orphanet:314790 Null pituitary adenoma semapv:UnspecifiedMatching MONDO:0017826 null pituitary adenoma skos:exactMatch UMLS:C5680967 semapv:UnspecifiedMatching MONDO:0017827 malignant peripheral nerve sheath tumor skos:exactMatch DOID:5940 malignant peripheral nerve sheath tumor semapv:UnspecifiedMatching MONDO:0017827 malignant peripheral nerve sheath tumor skos:exactMatch EFO:0000760 semapv:UnspecifiedMatching MONDO:0017827 malignant peripheral nerve sheath tumor skos:exactMatch MEDGEN:155614 semapv:UnspecifiedMatching MONDO:0017827 malignant peripheral nerve sheath tumor skos:exactMatch NCIT:C3798 Malignant Peripheral Nerve Sheath Tumor semapv:UnspecifiedMatching MONDO:0017827 malignant peripheral nerve sheath tumor skos:exactMatch Orphanet:3148 Malignant peripheral nerve sheath tumor semapv:UnspecifiedMatching MONDO:0017827 malignant peripheral nerve sheath tumor skos:exactMatch SCTID:404037002 semapv:UnspecifiedMatching MONDO:0017827 malignant peripheral nerve sheath tumor skos:exactMatch UMLS:C0751690 semapv:UnspecifiedMatching MONDO:0017827 malignant peripheral nerve sheath tumor skos:exactMatch icd11.foundation:71413945 Malignant peripheral nerve sheath tumour of cranial or paraspinal nerves semapv:UnspecifiedMatching MONDO:0017828 obsolete primary renal tubular acidosis skos:exactMatch Orphanet:314822 Primary renal tubular acidosis semapv:UnspecifiedMatching MONDO:0017829 autosomal dominant proximal renal tubular acidosis skos:exactMatch MEDGEN:1842780 semapv:UnspecifiedMatching MONDO:0017829 autosomal dominant proximal renal tubular acidosis skos:exactMatch Orphanet:314889 Autosomal dominant proximal renal tubular acidosis semapv:UnspecifiedMatching MONDO:0017829 autosomal dominant proximal renal tubular acidosis skos:exactMatch UMLS:C5679902 semapv:UnspecifiedMatching MONDO:0017830 severe Canavan disease skos:exactMatch MEDGEN:1826002 semapv:UnspecifiedMatching MONDO:0017830 severe Canavan disease skos:exactMatch Orphanet:314911 Severe Canavan disease semapv:UnspecifiedMatching MONDO:0017830 severe Canavan disease skos:exactMatch UMLS:C5575558 semapv:UnspecifiedMatching MONDO:0017831 mild Canavan disease skos:exactMatch MEDGEN:865564 semapv:UnspecifiedMatching MONDO:0017831 mild Canavan disease skos:exactMatch Orphanet:314918 Mild Canavan disease semapv:UnspecifiedMatching MONDO:0017831 mild Canavan disease skos:exactMatch UMLS:C4017127 semapv:UnspecifiedMatching MONDO:0017832 Mycobacterium xenopi infection skos:exactMatch MEDGEN:546776 semapv:UnspecifiedMatching MONDO:0017832 Mycobacterium xenopi infection skos:exactMatch UMLS:C0275715 semapv:UnspecifiedMatching MONDO:0017833 primary hypereosinophilic syndrome skos:exactMatch MEDGEN:1830089 semapv:UnspecifiedMatching MONDO:0017833 primary hypereosinophilic syndrome skos:exactMatch Orphanet:314950 Primary hypereosinophilic syndrome semapv:UnspecifiedMatching MONDO:0017833 primary hypereosinophilic syndrome skos:exactMatch UMLS:C5679898 semapv:UnspecifiedMatching MONDO:0017834 secondary hypereosinophilic syndrome skos:exactMatch MEDGEN:1814441 semapv:UnspecifiedMatching MONDO:0017834 secondary hypereosinophilic syndrome skos:exactMatch Orphanet:314962 Secondary hypereosinophilic syndrome semapv:UnspecifiedMatching MONDO:0017834 secondary hypereosinophilic syndrome skos:exactMatch UMLS:C5679897 semapv:UnspecifiedMatching MONDO:0017835 lymphocytic hypereosinophilic syndrome skos:exactMatch MEDGEN:1714468 semapv:UnspecifiedMatching MONDO:0017835 lymphocytic hypereosinophilic syndrome skos:exactMatch Orphanet:314970 Lymphocytic hypereosinophilic syndrome semapv:UnspecifiedMatching MONDO:0017835 lymphocytic hypereosinophilic syndrome skos:exactMatch UMLS:C5396402 semapv:UnspecifiedMatching MONDO:0017835 lymphocytic hypereosinophilic syndrome skos:exactMatch icd11.foundation:367714724 Lymphocytic hypereosinophilic syndrome semapv:UnspecifiedMatching MONDO:0017836 erythrokeratoderma en cocardes skos:exactMatch MEDGEN:1845700 semapv:UnspecifiedMatching MONDO:0017836 erythrokeratoderma en cocardes skos:exactMatch Orphanet:315 Erythrokeratoderma ''en cocardes'' semapv:UnspecifiedMatching MONDO:0017836 erythrokeratoderma en cocardes skos:exactMatch SCTID:239062001 semapv:UnspecifiedMatching MONDO:0017836 erythrokeratoderma en cocardes skos:exactMatch UMLS:C5848050 semapv:UnspecifiedMatching MONDO:0017837 multiple sclerosis-ichthyosis-factor VIII deficiency syndrome skos:exactMatch MEDGEN:1391655 semapv:UnspecifiedMatching MONDO:0017837 multiple sclerosis-ichthyosis-factor VIII deficiency syndrome skos:exactMatch Orphanet:3151 Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome semapv:UnspecifiedMatching MONDO:0017837 multiple sclerosis-ichthyosis-factor VIII deficiency syndrome skos:exactMatch UMLS:C4518551 semapv:UnspecifiedMatching MONDO:0017838 sclerosteosis skos:exactMatch DOID:0060251 sclerosteosis semapv:UnspecifiedMatching MONDO:0017838 sclerosteosis skos:exactMatch MEDGEN:120530 semapv:UnspecifiedMatching MONDO:0017838 sclerosteosis skos:exactMatch NCIT:C131133 Sclerosteosis semapv:UnspecifiedMatching MONDO:0017838 sclerosteosis skos:exactMatch OMIMPS:269500 Sclerosteosis semapv:UnspecifiedMatching MONDO:0017838 sclerosteosis skos:exactMatch Orphanet:3152 Sclerosteosis semapv:UnspecifiedMatching MONDO:0017838 sclerosteosis skos:exactMatch SCTID:17568006 semapv:UnspecifiedMatching MONDO:0017838 sclerosteosis skos:exactMatch UMLS:C0265301 semapv:UnspecifiedMatching MONDO:0017838 sclerosteosis skos:exactMatch icd11.foundation:371637416 Sclerosteosis semapv:UnspecifiedMatching MONDO:0017838 sclerosteosis skos:exactMatch mesh:C537525 semapv:UnspecifiedMatching MONDO:0017839 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form skos:exactMatch MEDGEN:1826062 semapv:UnspecifiedMatching MONDO:0017839 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form skos:exactMatch Orphanet:315306 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form semapv:UnspecifiedMatching MONDO:0017839 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form skos:exactMatch UMLS:C5679896 semapv:UnspecifiedMatching MONDO:0017840 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form skos:exactMatch MEDGEN:1826061 semapv:UnspecifiedMatching MONDO:0017840 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form skos:exactMatch Orphanet:315311 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form semapv:UnspecifiedMatching MONDO:0017840 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form skos:exactMatch UMLS:C5679895 semapv:UnspecifiedMatching MONDO:0017841 obsolete autoimmune disease with skin involvement skos:exactMatch DOID:0060039 autoimmune disease of skin and connective tissue semapv:UnspecifiedMatching MONDO:0017841 obsolete autoimmune disease with skin involvement skos:exactMatch Orphanet:315350 Autoimmune disease with skin involvement semapv:UnspecifiedMatching MONDO:0017842 Senior-Loken syndrome skos:exactMatch DOID:0050576 Senior-Loken syndrome semapv:UnspecifiedMatching MONDO:0017842 Senior-Loken syndrome skos:exactMatch MEDGEN:96045 semapv:UnspecifiedMatching MONDO:0017842 Senior-Loken syndrome skos:exactMatch NCIT:C168588 Senior-Loken Syndrome semapv:UnspecifiedMatching MONDO:0017842 Senior-Loken syndrome skos:exactMatch OMIMPS:266900 Senior-Loken syndrome semapv:UnspecifiedMatching MONDO:0017842 Senior-Loken syndrome skos:exactMatch Orphanet:3156 Senior-Loken syndrome semapv:UnspecifiedMatching MONDO:0017842 Senior-Loken syndrome skos:exactMatch UMLS:C0403553 semapv:UnspecifiedMatching MONDO:0017842 Senior-Loken syndrome skos:exactMatch icd11.foundation:1975732692 Senior-Loken syndrome semapv:UnspecifiedMatching MONDO:0017842 Senior-Loken syndrome skos:exactMatch mesh:C537580 semapv:UnspecifiedMatching MONDO:0017843 congenital pulmonary sequestration skos:exactMatch MEDGEN:892881 semapv:UnspecifiedMatching MONDO:0017843 congenital pulmonary sequestration skos:exactMatch NCIT:C97124 Bronchopulmonary Sequestration semapv:UnspecifiedMatching MONDO:0017843 congenital pulmonary sequestration skos:exactMatch Orphanet:3161 Congenital pulmonary sequestration semapv:UnspecifiedMatching MONDO:0017843 congenital pulmonary sequestration skos:exactMatch SCTID:18620009 semapv:UnspecifiedMatching MONDO:0017843 congenital pulmonary sequestration skos:exactMatch UMLS:C4020703 semapv:UnspecifiedMatching MONDO:0017843 congenital pulmonary sequestration skos:exactMatch icd11.foundation:1833083626 Congenital sequestration of lung semapv:UnspecifiedMatching MONDO:0017843 congenital pulmonary sequestration skos:exactMatch mesh:D001998 semapv:UnspecifiedMatching MONDO:0017844 Sezary syndrome skos:exactMatch DOID:8541 Sezary's disease semapv:UnspecifiedMatching MONDO:0017844 Sezary syndrome skos:exactMatch EFO:1000785 semapv:UnspecifiedMatching MONDO:0017844 Sezary syndrome skos:exactMatch MEDGEN:19959 semapv:UnspecifiedMatching MONDO:0017844 Sezary syndrome skos:exactMatch NCIT:C3366 Sezary Syndrome semapv:UnspecifiedMatching MONDO:0017844 Sezary syndrome skos:exactMatch Orphanet:3162 Sézary syndrome semapv:UnspecifiedMatching MONDO:0017844 Sezary syndrome skos:exactMatch SCTID:118611004 semapv:UnspecifiedMatching MONDO:0017844 Sezary syndrome skos:exactMatch UMLS:C0036920 semapv:UnspecifiedMatching MONDO:0017844 Sezary syndrome skos:exactMatch icd11.foundation:1358020385 Szary syndrome semapv:UnspecifiedMatching MONDO:0017844 Sezary syndrome skos:exactMatch mesh:D012751 semapv:UnspecifiedMatching MONDO:0017845 spastic ataxia skos:exactMatch DOID:0050952 spastic ataxia semapv:UnspecifiedMatching MONDO:0017845 spastic ataxia skos:exactMatch MEDGEN:376528 semapv:UnspecifiedMatching MONDO:0017845 spastic ataxia skos:exactMatch OMIMPS:108600 Spastic ataxia semapv:UnspecifiedMatching MONDO:0017845 spastic ataxia skos:exactMatch Orphanet:316226 Spastic ataxia semapv:UnspecifiedMatching MONDO:0017845 spastic ataxia skos:exactMatch UMLS:C1849156 semapv:UnspecifiedMatching MONDO:0017845 spastic ataxia skos:exactMatch mesh:C564815 semapv:UnspecifiedMatching MONDO:0017846 autosomal dominant spastic ataxia skos:exactMatch MEDGEN:1842682 semapv:UnspecifiedMatching MONDO:0017846 autosomal dominant spastic ataxia skos:exactMatch Orphanet:316235 Autosomal dominant spastic ataxia semapv:UnspecifiedMatching MONDO:0017846 autosomal dominant spastic ataxia skos:exactMatch UMLS:C5679899 semapv:UnspecifiedMatching MONDO:0017846 autosomal dominant spastic ataxia skos:exactMatch icd11.foundation:1327229348 Autosomal dominant spastic ataxia semapv:UnspecifiedMatching MONDO:0017847 autosomal recessive spastic ataxia skos:exactMatch MEDGEN:1826141 semapv:UnspecifiedMatching MONDO:0017847 autosomal recessive spastic ataxia skos:exactMatch Orphanet:316240 Autosomal recessive spastic ataxia semapv:UnspecifiedMatching MONDO:0017847 autosomal recessive spastic ataxia skos:exactMatch UMLS:C5679900 semapv:UnspecifiedMatching MONDO:0017849 Siegler-Brewer-Carey syndrome skos:exactMatch MEDGEN:419088 semapv:UnspecifiedMatching MONDO:0017849 Siegler-Brewer-Carey syndrome skos:exactMatch Orphanet:3167 Siegler-Brewer-Carey syndrome semapv:UnspecifiedMatching MONDO:0017849 Siegler-Brewer-Carey syndrome skos:exactMatch SCTID:721076000 semapv:UnspecifiedMatching MONDO:0017849 Siegler-Brewer-Carey syndrome skos:exactMatch UMLS:C2931473 semapv:UnspecifiedMatching MONDO:0017849 Siegler-Brewer-Carey syndrome skos:exactMatch mesh:C537335 semapv:UnspecifiedMatching MONDO:0017850 sirenomelia skos:exactMatch MEDGEN:52357 semapv:UnspecifiedMatching MONDO:0017850 sirenomelia skos:exactMatch NCIT:C118455 Sirenomelia semapv:UnspecifiedMatching MONDO:0017850 sirenomelia skos:exactMatch Orphanet:3169 Sirenomelia semapv:UnspecifiedMatching MONDO:0017850 sirenomelia skos:exactMatch SCTID:67254002 semapv:UnspecifiedMatching MONDO:0017850 sirenomelia skos:exactMatch UMLS:C0037205 semapv:UnspecifiedMatching MONDO:0017850 sirenomelia skos:exactMatch icd11.foundation:473306797 Sirenomelia semapv:UnspecifiedMatching MONDO:0017851 erythrokeratodermia variabilis skos:exactMatch DOID:0050467 erythrokeratodermia variabilis semapv:UnspecifiedMatching MONDO:0017851 erythrokeratodermia variabilis skos:exactMatch MEDGEN:75587 semapv:UnspecifiedMatching MONDO:0017851 erythrokeratodermia variabilis skos:exactMatch NCIT:C84696 Erythrokeratodermia Variabilis semapv:UnspecifiedMatching MONDO:0017851 erythrokeratodermia variabilis skos:exactMatch OMIMPS:133200 Erythrokeratodermia variabilis et progressiva semapv:UnspecifiedMatching MONDO:0017851 erythrokeratodermia variabilis skos:exactMatch Orphanet:308166 Erythrokeratoderma variabilis progressiva semapv:UnspecifiedMatching MONDO:0017851 erythrokeratodermia variabilis skos:exactMatch Orphanet:316 Progressive symmetric erythrokeratodermia semapv:UnspecifiedMatching MONDO:0017851 erythrokeratodermia variabilis skos:exactMatch Orphanet:317 Erythrokeratodermia variabilis semapv:UnspecifiedMatching MONDO:0017851 erythrokeratodermia variabilis skos:exactMatch SCTID:70041004 semapv:UnspecifiedMatching MONDO:0017851 erythrokeratodermia variabilis skos:exactMatch UMLS:C0265961 semapv:UnspecifiedMatching MONDO:0017851 erythrokeratodermia variabilis skos:exactMatch icd11.foundation:551200965 Erythrokeratodermia variabilis semapv:UnspecifiedMatching MONDO:0017851 erythrokeratodermia variabilis skos:exactMatch mesh:C536154 semapv:UnspecifiedMatching MONDO:0017851 erythrokeratodermia variabilis skos:exactMatch mesh:D056266 semapv:UnspecifiedMatching MONDO:0017852 infantile spasms-broad thumbs syndrome skos:exactMatch MEDGEN:1667345 semapv:UnspecifiedMatching MONDO:0017852 infantile spasms-broad thumbs syndrome skos:exactMatch Orphanet:3173 Infantile spasms-broad thumbs syndrome semapv:UnspecifiedMatching MONDO:0017852 infantile spasms-broad thumbs syndrome skos:exactMatch UMLS:C4749287 semapv:UnspecifiedMatching MONDO:0017853 hypersensitivity pneumonitis skos:exactMatch DOID:841 extrinsic allergic alveolitis semapv:UnspecifiedMatching MONDO:0017853 hypersensitivity pneumonitis skos:exactMatch MEDGEN:1446 semapv:UnspecifiedMatching MONDO:0017853 hypersensitivity pneumonitis skos:exactMatch NCIT:C34369 Extrinsic Allergic Alveolitis semapv:UnspecifiedMatching MONDO:0017853 hypersensitivity pneumonitis skos:exactMatch Orphanet:31740 Hypersensitivity pneumonitis semapv:UnspecifiedMatching MONDO:0017853 hypersensitivity pneumonitis skos:exactMatch SCTID:37471005 semapv:UnspecifiedMatching MONDO:0017853 hypersensitivity pneumonitis skos:exactMatch UMLS:C0002390 semapv:UnspecifiedMatching MONDO:0017853 hypersensitivity pneumonitis skos:exactMatch mesh:D000542 semapv:UnspecifiedMatching MONDO:0017855 T-B- severe combined immunodeficiency skos:exactMatch MEDGEN:1842252 semapv:UnspecifiedMatching MONDO:0017855 T-B- severe combined immunodeficiency skos:exactMatch Orphanet:317419 T-B- severe combined immunodeficiency semapv:UnspecifiedMatching MONDO:0017855 T-B- severe combined immunodeficiency skos:exactMatch UMLS:C5679893 semapv:UnspecifiedMatching MONDO:0017856 X-linked spasticity-intellectual disability-epilepsy syndrome skos:exactMatch MEDGEN:1376165 semapv:UnspecifiedMatching MONDO:0017856 X-linked spasticity-intellectual disability-epilepsy syndrome skos:exactMatch Orphanet:3175 X-linked spasticity-intellectual disability-epilepsy syndrome semapv:UnspecifiedMatching MONDO:0017856 X-linked spasticity-intellectual disability-epilepsy syndrome skos:exactMatch UMLS:C4510949 semapv:UnspecifiedMatching MONDO:0017857 spina bifida-hypospadias syndrome skos:exactMatch MEDGEN:1638294 semapv:UnspecifiedMatching MONDO:0017857 spina bifida-hypospadias syndrome skos:exactMatch Orphanet:3176 Spina bifida-hypospadias syndrome semapv:UnspecifiedMatching MONDO:0017857 spina bifida-hypospadias syndrome skos:exactMatch UMLS:C4706660 semapv:UnspecifiedMatching MONDO:0017858 acute erythroid leukemia skos:exactMatch DOID:0080780 acute erythroid leukemia semapv:UnspecifiedMatching MONDO:0017858 acute erythroid leukemia skos:exactMatch EFO:0000218 semapv:UnspecifiedMatching MONDO:0017858 acute erythroid leukemia skos:exactMatch ICD10CM:C94.0 Acute erythroid leukemia semapv:UnspecifiedMatching MONDO:0017858 acute erythroid leukemia skos:exactMatch MEDGEN:7316 semapv:UnspecifiedMatching MONDO:0017858 acute erythroid leukemia skos:exactMatch NCIT:C8923 Acute Erythroid Leukemia semapv:UnspecifiedMatching MONDO:0017858 acute erythroid leukemia skos:exactMatch Orphanet:318 Acute erythroid leukemia semapv:UnspecifiedMatching MONDO:0017858 acute erythroid leukemia skos:exactMatch SCTID:93451002 semapv:UnspecifiedMatching MONDO:0017858 acute erythroid leukemia skos:exactMatch UMLS:C0023440 semapv:UnspecifiedMatching MONDO:0017858 acute erythroid leukemia skos:exactMatch icd11.foundation:538743484 semapv:UnspecifiedMatching MONDO:0017858 acute erythroid leukemia skos:exactMatch icd11.foundation:631263622 Acute erythroid leukaemia semapv:UnspecifiedMatching MONDO:0017858 acute erythroid leukemia skos:exactMatch mesh:D004915 semapv:UnspecifiedMatching MONDO:0017859 colchicine poisoning skos:exactMatch Orphanet:31824 Colchicine poisoning semapv:UnspecifiedMatching MONDO:0017859 colchicine poisoning skos:exactMatch SCTID:24354007 semapv:UnspecifiedMatching MONDO:0017859 colchicine poisoning skos:exactMatch icd11.foundation:1617857912 Colchicine poisoning semapv:UnspecifiedMatching MONDO:0017860 methanol poisoning skos:exactMatch Orphanet:31825 Methanol poisoning semapv:UnspecifiedMatching MONDO:0017861 ethylene glycol poisoning skos:exactMatch Orphanet:31826 Ethylene glycol poisoning semapv:UnspecifiedMatching MONDO:0017861 ethylene glycol poisoning skos:exactMatch SCTID:426692001 semapv:UnspecifiedMatching MONDO:0017862 paraquat poisoning skos:exactMatch Orphanet:31827 Paraquat poisoning semapv:UnspecifiedMatching MONDO:0017863 digitalis poisoning skos:exactMatch Orphanet:31828 Digitalis poisoning semapv:UnspecifiedMatching MONDO:0017863 digitalis poisoning skos:exactMatch SCTID:12876009 semapv:UnspecifiedMatching MONDO:0017864 congenital pulmonary veins atresia or stenosis skos:exactMatch MEDGEN:1826176 semapv:UnspecifiedMatching MONDO:0017864 congenital pulmonary veins atresia or stenosis skos:exactMatch Orphanet:3188 Congenital pulmonary veins atresia or stenosis semapv:UnspecifiedMatching MONDO:0017864 congenital pulmonary veins atresia or stenosis skos:exactMatch SCTID:234062003 semapv:UnspecifiedMatching MONDO:0017864 congenital pulmonary veins atresia or stenosis skos:exactMatch UMLS:C5680865 semapv:UnspecifiedMatching MONDO:0017864 congenital pulmonary veins atresia or stenosis skos:exactMatch icd11.foundation:469101490 Congenital pulmonary venous stenosis or hypoplasia semapv:UnspecifiedMatching MONDO:0017865 congenital pulmonary valve stenosis skos:exactMatch ICD10CM:Q22.1 Congenital pulmonary valve stenosis semapv:UnspecifiedMatching MONDO:0017865 congenital pulmonary valve stenosis skos:exactMatch MEDGEN:511533 semapv:UnspecifiedMatching MONDO:0017865 congenital pulmonary valve stenosis skos:exactMatch Orphanet:3189 Congenital pulmonary valvar stenosis semapv:UnspecifiedMatching MONDO:0017865 congenital pulmonary valve stenosis skos:exactMatch UMLS:C0162164 semapv:UnspecifiedMatching MONDO:0017865 congenital pulmonary valve stenosis skos:exactMatch icd11.foundation:353180069 Congenital pulmonary valvar stenosis semapv:UnspecifiedMatching MONDO:0017866 subpulmonary stenosis skos:exactMatch MEDGEN:757434 semapv:UnspecifiedMatching MONDO:0017866 subpulmonary stenosis skos:exactMatch Orphanet:3190 Subpulmonary stenosis semapv:UnspecifiedMatching MONDO:0017866 subpulmonary stenosis skos:exactMatch SCTID:448476001 semapv:UnspecifiedMatching MONDO:0017866 subpulmonary stenosis skos:exactMatch UMLS:C3165028 semapv:UnspecifiedMatching MONDO:0017866 subpulmonary stenosis skos:exactMatch icd11.foundation:1393194578 Congenital subpulmonary stenosis semapv:UnspecifiedMatching MONDO:0017867 distal 17p13.1 microdeletion syndrome skos:exactMatch MEDGEN:1657963 semapv:UnspecifiedMatching MONDO:0017867 distal 17p13.1 microdeletion syndrome skos:exactMatch Orphanet:319171 Distal 17p13.1 microdeletion syndrome semapv:UnspecifiedMatching MONDO:0017867 distal 17p13.1 microdeletion syndrome skos:exactMatch UMLS:C4749349 semapv:UnspecifiedMatching MONDO:0017868 diencephalic-mesencephalic junction dysplasia skos:exactMatch MEDGEN:1641855 semapv:UnspecifiedMatching MONDO:0017868 diencephalic-mesencephalic junction dysplasia skos:exactMatch OMIMPS:251280 Diencephalic-mesencephalic junction dysplasia syndrome semapv:UnspecifiedMatching MONDO:0017868 diencephalic-mesencephalic junction dysplasia skos:exactMatch Orphanet:319192 Diencephalic-mesencephalic junction dysplasia semapv:UnspecifiedMatching MONDO:0017868 diencephalic-mesencephalic junction dysplasia skos:exactMatch UMLS:C4707858 semapv:UnspecifiedMatching MONDO:0017869 chondroectodermal dysplasia with night blindness skos:exactMatch MEDGEN:1641815 semapv:UnspecifiedMatching MONDO:0017869 chondroectodermal dysplasia with night blindness skos:exactMatch Orphanet:319195 Chondroectodermal dysplasia with night blindness semapv:UnspecifiedMatching MONDO:0017869 chondroectodermal dysplasia with night blindness skos:exactMatch UMLS:C4706300 semapv:UnspecifiedMatching MONDO:0017870 supravalvular pulmonary stenosis skos:exactMatch MEDGEN:481842 semapv:UnspecifiedMatching MONDO:0017870 supravalvular pulmonary stenosis skos:exactMatch Orphanet:3192 Supravalvular pulmonary stenosis semapv:UnspecifiedMatching MONDO:0017870 supravalvular pulmonary stenosis skos:exactMatch UMLS:C3280212 semapv:UnspecifiedMatching MONDO:0017871 bilateral massive adrenal hemorrhage skos:exactMatch MEDGEN:1843030 semapv:UnspecifiedMatching MONDO:0017871 bilateral massive adrenal hemorrhage skos:exactMatch Orphanet:319205 Bilateral massive adrenal hemorrhage semapv:UnspecifiedMatching MONDO:0017871 bilateral massive adrenal hemorrhage skos:exactMatch UMLS:C5679892 semapv:UnspecifiedMatching MONDO:0017872 Lujo hemorrhagic fever skos:exactMatch DOID:0050202 Lujo hemorrhagic fever semapv:UnspecifiedMatching MONDO:0017872 Lujo hemorrhagic fever skos:exactMatch MEDGEN:905662 semapv:UnspecifiedMatching MONDO:0017872 Lujo hemorrhagic fever skos:exactMatch Orphanet:319213 Lujo hemorrhagic fever semapv:UnspecifiedMatching MONDO:0017872 Lujo hemorrhagic fever skos:exactMatch SCTID:716585008 semapv:UnspecifiedMatching MONDO:0017872 Lujo hemorrhagic fever skos:exactMatch UMLS:C4274433 semapv:UnspecifiedMatching MONDO:0017874 Argentine hemorrhagic fever skos:exactMatch DOID:0050194 Argentine hemorrhagic fever semapv:UnspecifiedMatching MONDO:0017874 Argentine hemorrhagic fever skos:exactMatch ICD10CM:A96.0 Junin hemorrhagic fever semapv:UnspecifiedMatching MONDO:0017874 Argentine hemorrhagic fever skos:exactMatch MEDGEN:9211 semapv:UnspecifiedMatching MONDO:0017874 Argentine hemorrhagic fever skos:exactMatch Orphanet:319223 Argentine hemorrhagic fever semapv:UnspecifiedMatching MONDO:0017874 Argentine hemorrhagic fever skos:exactMatch SCTID:58868000 semapv:UnspecifiedMatching MONDO:0017874 Argentine hemorrhagic fever skos:exactMatch UMLS:C0019097 semapv:UnspecifiedMatching MONDO:0017874 Argentine hemorrhagic fever skos:exactMatch icd11.foundation:257166193 Argentinian haemorrhagic fever semapv:UnspecifiedMatching MONDO:0017875 Bolivian hemorrhagic fever skos:exactMatch DOID:0050195 Bolivian hemorrhagic fever semapv:UnspecifiedMatching MONDO:0017875 Bolivian hemorrhagic fever skos:exactMatch ICD10CM:A96.1 Machupo hemorrhagic fever semapv:UnspecifiedMatching MONDO:0017875 Bolivian hemorrhagic fever skos:exactMatch MEDGEN:76386 semapv:UnspecifiedMatching MONDO:0017875 Bolivian hemorrhagic fever skos:exactMatch Orphanet:319229 Bolivian hemorrhagic fever semapv:UnspecifiedMatching MONDO:0017875 Bolivian hemorrhagic fever skos:exactMatch SCTID:67247008 semapv:UnspecifiedMatching MONDO:0017875 Bolivian hemorrhagic fever skos:exactMatch UMLS:C0282192 semapv:UnspecifiedMatching MONDO:0017875 Bolivian hemorrhagic fever skos:exactMatch icd11.foundation:1780467429 Bolivian haemorrhagic fever semapv:UnspecifiedMatching MONDO:0017876 Venezuelan hemorrhagic fever skos:exactMatch DOID:0050196 Venezuelan hemorrhagic fever semapv:UnspecifiedMatching MONDO:0017876 Venezuelan hemorrhagic fever skos:exactMatch MEDGEN:508283 semapv:UnspecifiedMatching MONDO:0017876 Venezuelan hemorrhagic fever skos:exactMatch Orphanet:319234 Venezuelan hemorrhagic fever semapv:UnspecifiedMatching MONDO:0017876 Venezuelan hemorrhagic fever skos:exactMatch SCTID:359673001 semapv:UnspecifiedMatching MONDO:0017876 Venezuelan hemorrhagic fever skos:exactMatch UMLS:C0042470 semapv:UnspecifiedMatching MONDO:0017876 Venezuelan hemorrhagic fever skos:exactMatch icd11.foundation:356743940 Venezuelan haemorrhagic fever semapv:UnspecifiedMatching MONDO:0017877 Brazilian hemorrhagic fever skos:exactMatch DOID:0050197 Brazilian hemorrhagic fever semapv:UnspecifiedMatching MONDO:0017877 Brazilian hemorrhagic fever skos:exactMatch MEDGEN:575736 semapv:UnspecifiedMatching MONDO:0017877 Brazilian hemorrhagic fever skos:exactMatch Orphanet:319239 Brazilian hemorrhagic fever semapv:UnspecifiedMatching MONDO:0017877 Brazilian hemorrhagic fever skos:exactMatch SCTID:240524001 semapv:UnspecifiedMatching MONDO:0017877 Brazilian hemorrhagic fever skos:exactMatch UMLS:C0343633 semapv:UnspecifiedMatching MONDO:0017878 Chapare hemorrhagic fever skos:exactMatch DOID:0050198 Chapare hemorrhagic fever semapv:UnspecifiedMatching MONDO:0017878 Chapare hemorrhagic fever skos:exactMatch MEDGEN:900792 semapv:UnspecifiedMatching MONDO:0017878 Chapare hemorrhagic fever skos:exactMatch Orphanet:319244 Chapare hemorrhagic fever semapv:UnspecifiedMatching MONDO:0017878 Chapare hemorrhagic fever skos:exactMatch SCTID:716584007 semapv:UnspecifiedMatching MONDO:0017878 Chapare hemorrhagic fever skos:exactMatch UMLS:C4274434 semapv:UnspecifiedMatching MONDO:0017879 hantavirus pulmonary syndrome skos:exactMatch DOID:14472 hantavirus pulmonary syndrome semapv:UnspecifiedMatching MONDO:0017879 hantavirus pulmonary syndrome skos:exactMatch EFO:0007296 semapv:UnspecifiedMatching MONDO:0017879 hantavirus pulmonary syndrome skos:exactMatch MEDGEN:66205 semapv:UnspecifiedMatching MONDO:0017879 hantavirus pulmonary syndrome skos:exactMatch NCIT:C84747 Hantavirus Pulmonary Syndrome semapv:UnspecifiedMatching MONDO:0017879 hantavirus pulmonary syndrome skos:exactMatch Orphanet:319247 Hantavirus pulmonary syndrome semapv:UnspecifiedMatching MONDO:0017879 hantavirus pulmonary syndrome skos:exactMatch SCTID:120639003 semapv:UnspecifiedMatching MONDO:0017879 hantavirus pulmonary syndrome skos:exactMatch UMLS:C0243025 semapv:UnspecifiedMatching MONDO:0017879 hantavirus pulmonary syndrome skos:exactMatch icd11.foundation:582624609 Hantavirus pulmonary syndrome semapv:UnspecifiedMatching MONDO:0017879 hantavirus pulmonary syndrome skos:exactMatch mesh:D018804 semapv:UnspecifiedMatching MONDO:0017880 Rift valley fever skos:exactMatch DOID:1328 Rift Valley fever semapv:UnspecifiedMatching MONDO:0017880 Rift valley fever skos:exactMatch ICD10CM:A92.4 Rift Valley fever semapv:UnspecifiedMatching MONDO:0017880 Rift valley fever skos:exactMatch MEDGEN:20589 semapv:UnspecifiedMatching MONDO:0017880 Rift valley fever skos:exactMatch NCIT:C128419 Rift Valley Fever semapv:UnspecifiedMatching MONDO:0017880 Rift valley fever skos:exactMatch Orphanet:319251 Rift valley fever semapv:UnspecifiedMatching MONDO:0017880 Rift valley fever skos:exactMatch SCTID:402917003 semapv:UnspecifiedMatching MONDO:0017880 Rift valley fever skos:exactMatch UMLS:C0035613 semapv:UnspecifiedMatching MONDO:0017880 Rift valley fever skos:exactMatch icd11.foundation:854137188 Rift Valley fever semapv:UnspecifiedMatching MONDO:0017880 Rift valley fever skos:exactMatch mesh:D012295 semapv:UnspecifiedMatching MONDO:0017881 Kyasanur forest disease skos:exactMatch DOID:11320 Kyasanur forest disease semapv:UnspecifiedMatching MONDO:0017881 Kyasanur forest disease skos:exactMatch ICD10CM:A98.2 Kyasanur Forest disease semapv:UnspecifiedMatching MONDO:0017881 Kyasanur forest disease skos:exactMatch MEDGEN:5982 semapv:UnspecifiedMatching MONDO:0017881 Kyasanur forest disease skos:exactMatch Orphanet:319254 Kyasanur forest disease semapv:UnspecifiedMatching MONDO:0017881 Kyasanur forest disease skos:exactMatch SCTID:23097003 semapv:UnspecifiedMatching MONDO:0017881 Kyasanur forest disease skos:exactMatch UMLS:C0022810 semapv:UnspecifiedMatching MONDO:0017881 Kyasanur forest disease skos:exactMatch icd11.foundation:1288604967 Kyasanur Forest disease semapv:UnspecifiedMatching MONDO:0017881 Kyasanur forest disease skos:exactMatch mesh:D007733 semapv:UnspecifiedMatching MONDO:0017882 Omsk hemorrhagic fever skos:exactMatch DOID:992 Omsk hemorrhagic fever semapv:UnspecifiedMatching MONDO:0017882 Omsk hemorrhagic fever skos:exactMatch ICD10CM:A98.1 Omsk hemorrhagic fever semapv:UnspecifiedMatching MONDO:0017882 Omsk hemorrhagic fever skos:exactMatch MEDGEN:9212 semapv:UnspecifiedMatching MONDO:0017882 Omsk hemorrhagic fever skos:exactMatch Orphanet:319266 Omsk hemorrhagic fever semapv:UnspecifiedMatching MONDO:0017882 Omsk hemorrhagic fever skos:exactMatch SCTID:48113006 semapv:UnspecifiedMatching MONDO:0017882 Omsk hemorrhagic fever skos:exactMatch UMLS:C0019103 semapv:UnspecifiedMatching MONDO:0017882 Omsk hemorrhagic fever skos:exactMatch icd11.foundation:946068954 Omsk haemorrhagic fever semapv:UnspecifiedMatching MONDO:0017882 Omsk hemorrhagic fever skos:exactMatch mesh:D006481 semapv:UnspecifiedMatching MONDO:0017884 papillary renal cell carcinoma skos:exactMatch DOID:4465 papillary renal cell carcinoma semapv:UnspecifiedMatching MONDO:0017884 papillary renal cell carcinoma skos:exactMatch EFO:0000640 semapv:UnspecifiedMatching MONDO:0017884 papillary renal cell carcinoma skos:exactMatch MEDGEN:266300 semapv:UnspecifiedMatching MONDO:0017884 papillary renal cell carcinoma skos:exactMatch NCIT:C6975 Papillary Renal Cell Carcinoma semapv:UnspecifiedMatching MONDO:0017884 papillary renal cell carcinoma skos:exactMatch Orphanet:319298 Papillary renal cell carcinoma semapv:UnspecifiedMatching MONDO:0017884 papillary renal cell carcinoma skos:exactMatch SCTID:733608000 semapv:UnspecifiedMatching MONDO:0017884 papillary renal cell carcinoma skos:exactMatch UMLS:C1306837 semapv:UnspecifiedMatching MONDO:0017885 chromophobe renal cell carcinoma skos:exactMatch DOID:4471 chromophobe renal cell carcinoma semapv:UnspecifiedMatching MONDO:0017885 chromophobe renal cell carcinoma skos:exactMatch EFO:0000335 semapv:UnspecifiedMatching MONDO:0017885 chromophobe renal cell carcinoma skos:exactMatch MEDGEN:266091 semapv:UnspecifiedMatching MONDO:0017885 chromophobe renal cell carcinoma skos:exactMatch NCIT:C4146 Chromophobe Renal Cell Carcinoma semapv:UnspecifiedMatching MONDO:0017885 chromophobe renal cell carcinoma skos:exactMatch Orphanet:319303 Chromophobe renal cell carcinoma semapv:UnspecifiedMatching MONDO:0017885 chromophobe renal cell carcinoma skos:exactMatch SCTID:733471003 semapv:UnspecifiedMatching MONDO:0017885 chromophobe renal cell carcinoma skos:exactMatch UMLS:C1266042 semapv:UnspecifiedMatching MONDO:0017886 MIT family translocation renal cell carcinoma skos:exactMatch DOID:0081413 renal cell carcinoma with MiT translocations semapv:UnspecifiedMatching MONDO:0017886 MIT family translocation renal cell carcinoma skos:exactMatch MEDGEN:1376834 semapv:UnspecifiedMatching MONDO:0017886 MIT family translocation renal cell carcinoma skos:exactMatch NCIT:C154494 Renal Cell Carcinoma with MiT Translocations semapv:UnspecifiedMatching MONDO:0017886 MIT family translocation renal cell carcinoma skos:exactMatch Orphanet:319308 MiT family translocation renal cell carcinoma semapv:UnspecifiedMatching MONDO:0017886 MIT family translocation renal cell carcinoma skos:exactMatch SCTID:764694005 semapv:UnspecifiedMatching MONDO:0017886 MIT family translocation renal cell carcinoma skos:exactMatch UMLS:C4518356 semapv:UnspecifiedMatching MONDO:0017887 renal cell carcinoma associated with neuroblastoma skos:exactMatch MEDGEN:473928 semapv:UnspecifiedMatching MONDO:0017887 renal cell carcinoma associated with neuroblastoma skos:exactMatch NCIT:C100051 Renal Cell Carcinoma Associated with Neuroblastoma semapv:UnspecifiedMatching MONDO:0017887 renal cell carcinoma associated with neuroblastoma skos:exactMatch UMLS:C3272295 semapv:UnspecifiedMatching MONDO:0017890 tubulocystic renal cell carcinoma skos:exactMatch MEDGEN:925623 semapv:UnspecifiedMatching MONDO:0017890 tubulocystic renal cell carcinoma skos:exactMatch NCIT:C126303 Tubulocystic Renal Cell Carcinoma semapv:UnspecifiedMatching MONDO:0017890 tubulocystic renal cell carcinoma skos:exactMatch Orphanet:319325 Tubulocystic renal cell carcinoma semapv:UnspecifiedMatching MONDO:0017890 tubulocystic renal cell carcinoma skos:exactMatch SCTID:733603009 semapv:UnspecifiedMatching MONDO:0017890 tubulocystic renal cell carcinoma skos:exactMatch UMLS:C4288091 semapv:UnspecifiedMatching MONDO:0017891 obsolete inherited renal cancer-predisposing syndrome skos:exactMatch Orphanet:319328 Inherited renal cancer-predisposing syndrome semapv:UnspecifiedMatching MONDO:0017892 autosomal recessive myogenic arthrogryposis multiplex congenita skos:exactMatch MEDGEN:1647450 semapv:UnspecifiedMatching MONDO:0017892 autosomal recessive myogenic arthrogryposis multiplex congenita skos:exactMatch Orphanet:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita semapv:UnspecifiedMatching MONDO:0017892 autosomal recessive myogenic arthrogryposis multiplex congenita skos:exactMatch SCTID:764812008 semapv:UnspecifiedMatching MONDO:0017892 autosomal recessive myogenic arthrogryposis multiplex congenita skos:exactMatch UMLS:C4707155 semapv:UnspecifiedMatching MONDO:0017893 inherited acute myeloid leukemia skos:exactMatch MEDGEN:1634915 semapv:UnspecifiedMatching MONDO:0017893 inherited acute myeloid leukemia skos:exactMatch NCIT:C7175 Acute Myeloid Leukemia with Recurrent Genetic Abnormalities semapv:UnspecifiedMatching MONDO:0017893 inherited acute myeloid leukemia skos:exactMatch Orphanet:319465 Inherited acute myeloid leukemia semapv:UnspecifiedMatching MONDO:0017893 inherited acute myeloid leukemia skos:exactMatch SCTID:764940002 semapv:UnspecifiedMatching MONDO:0017893 inherited acute myeloid leukemia skos:exactMatch UMLS:C4707228 semapv:UnspecifiedMatching MONDO:0017894 acute myeloid leukemia with CEBPA somatic mutations skos:exactMatch DOID:0081095 acute myeloid leukemia with mutated CEBPA semapv:UnspecifiedMatching MONDO:0017894 acute myeloid leukemia with CEBPA somatic mutations skos:exactMatch MEDGEN:1640289 semapv:UnspecifiedMatching MONDO:0017894 acute myeloid leukemia with CEBPA somatic mutations skos:exactMatch NCIT:C82433 Acute Myeloid Leukemia with CEBPA Mutation semapv:UnspecifiedMatching MONDO:0017894 acute myeloid leukemia with CEBPA somatic mutations skos:exactMatch Orphanet:319480 Acute myeloid leukemia with CEBPA somatic mutations semapv:UnspecifiedMatching MONDO:0017894 acute myeloid leukemia with CEBPA somatic mutations skos:exactMatch SCTID:764855007 semapv:UnspecifiedMatching MONDO:0017894 acute myeloid leukemia with CEBPA somatic mutations skos:exactMatch UMLS:C4707178 semapv:UnspecifiedMatching MONDO:0017895 familial papillary or follicular thyroid carcinoma skos:exactMatch MEDGEN:1681657 semapv:UnspecifiedMatching MONDO:0017895 familial papillary or follicular thyroid carcinoma skos:exactMatch NCIT:C118829 Hereditary Nonmedullary Thyroid Gland Carcinoma semapv:UnspecifiedMatching MONDO:0017895 familial papillary or follicular thyroid carcinoma skos:exactMatch Orphanet:319487 Familial papillary or follicular thyroid carcinoma semapv:UnspecifiedMatching MONDO:0017895 familial papillary or follicular thyroid carcinoma skos:exactMatch UMLS:C5191836 semapv:UnspecifiedMatching MONDO:0017896 familial nonmedullary thyroid carcinoma skos:exactMatch MEDGEN:502247 semapv:UnspecifiedMatching MONDO:0017896 familial nonmedullary thyroid carcinoma skos:exactMatch OMIMPS:188550 Thyroid cancer, nonmedullary semapv:UnspecifiedMatching MONDO:0017896 familial nonmedullary thyroid carcinoma skos:exactMatch Orphanet:319494 Familial nonmedullary thyroid carcinoma semapv:UnspecifiedMatching MONDO:0017896 familial nonmedullary thyroid carcinoma skos:exactMatch UMLS:C3501843 semapv:UnspecifiedMatching MONDO:0017897 obsolete autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency skos:exactMatch Orphanet:319535 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency semapv:UnspecifiedMatching MONDO:0017898 obsolete autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency skos:exactMatch Orphanet:319539 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency semapv:UnspecifiedMatching MONDO:0017899 obsolete autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency skos:exactMatch Orphanet:319543 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency semapv:UnspecifiedMatching MONDO:0017900 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency skos:exactMatch MEDGEN:928740 semapv:UnspecifiedMatching MONDO:0017900 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency skos:exactMatch Orphanet:319547 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency semapv:UnspecifiedMatching MONDO:0017900 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency skos:exactMatch UMLS:C4303071 semapv:UnspecifiedMatching MONDO:0017901 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency skos:exactMatch MEDGEN:1379275 semapv:UnspecifiedMatching MONDO:0017901 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency skos:exactMatch Orphanet:319569 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency semapv:UnspecifiedMatching MONDO:0017901 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency skos:exactMatch UMLS:C4511091 semapv:UnspecifiedMatching MONDO:0017902 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency skos:exactMatch MEDGEN:1387677 semapv:UnspecifiedMatching MONDO:0017902 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency skos:exactMatch Orphanet:319574 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency semapv:UnspecifiedMatching MONDO:0017902 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency skos:exactMatch UMLS:C4511098 semapv:UnspecifiedMatching MONDO:0017903 autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency skos:exactMatch MEDGEN:1371829 semapv:UnspecifiedMatching MONDO:0017903 autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency skos:exactMatch Orphanet:319589 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency semapv:UnspecifiedMatching MONDO:0017903 autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency skos:exactMatch UMLS:C4510875 semapv:UnspecifiedMatching MONDO:0017904 steroid dehydrogenase deficiency-dental anomalies syndrome skos:exactMatch MEDGEN:419431 semapv:UnspecifiedMatching MONDO:0017904 steroid dehydrogenase deficiency-dental anomalies syndrome skos:exactMatch Orphanet:3196 Steroid dehydrogenase deficiency-dental anomalies syndrome semapv:UnspecifiedMatching MONDO:0017904 steroid dehydrogenase deficiency-dental anomalies syndrome skos:exactMatch SCTID:723583009 semapv:UnspecifiedMatching MONDO:0017904 steroid dehydrogenase deficiency-dental anomalies syndrome skos:exactMatch UMLS:C2931508 semapv:UnspecifiedMatching MONDO:0017904 steroid dehydrogenase deficiency-dental anomalies syndrome skos:exactMatch mesh:C537490 semapv:UnspecifiedMatching MONDO:0017905 X-linked Mendelian susceptibility to mycobacterial diseases skos:exactMatch MEDGEN:930082 semapv:UnspecifiedMatching MONDO:0017905 X-linked Mendelian susceptibility to mycobacterial diseases skos:exactMatch Orphanet:319605 X-linked mendelian susceptibility to mycobacterial diseases semapv:UnspecifiedMatching MONDO:0017905 X-linked Mendelian susceptibility to mycobacterial diseases skos:exactMatch SCTID:719814009 semapv:UnspecifiedMatching MONDO:0017905 X-linked Mendelian susceptibility to mycobacterial diseases skos:exactMatch UMLS:C4304413 semapv:UnspecifiedMatching MONDO:0017906 amyloidosis cutis dyschromia skos:exactMatch DOID:0080932 primary localized cutaneous amyloidosis 3 semapv:UnspecifiedMatching MONDO:0017906 amyloidosis cutis dyschromia skos:exactMatch MEDGEN:1641859 semapv:UnspecifiedMatching MONDO:0017906 amyloidosis cutis dyschromia skos:exactMatch Orphanet:319635 Amyloidosis cutis dyschromia semapv:UnspecifiedMatching MONDO:0017906 amyloidosis cutis dyschromia skos:exactMatch UMLS:C4554601 semapv:UnspecifiedMatching MONDO:0017907 primary lymphoma of the conjunctiva skos:exactMatch MEDGEN:1635420 semapv:UnspecifiedMatching MONDO:0017907 primary lymphoma of the conjunctiva skos:exactMatch NCIT:C175432 Conjunctival Non-Hodgkin Lymphoma semapv:UnspecifiedMatching MONDO:0017907 primary lymphoma of the conjunctiva skos:exactMatch Orphanet:319667 Primary lymphoma of the conjunctiva semapv:UnspecifiedMatching MONDO:0017907 primary lymphoma of the conjunctiva skos:exactMatch SCTID:763477007 semapv:UnspecifiedMatching MONDO:0017907 primary lymphoma of the conjunctiva skos:exactMatch UMLS:C4706485 semapv:UnspecifiedMatching MONDO:0017909 inherited glutathione synthetase deficiency skos:exactMatch DOID:0080699 glutathione synthetase deficiency semapv:UnspecifiedMatching MONDO:0017909 inherited glutathione synthetase deficiency skos:exactMatch MEDGEN:1876682 semapv:UnspecifiedMatching MONDO:0017909 inherited glutathione synthetase deficiency skos:exactMatch NCIT:C128193 Glutathione Synthetase Deficiency semapv:UnspecifiedMatching MONDO:0017909 inherited glutathione synthetase deficiency skos:exactMatch Orphanet:32 Glutathione synthetase deficiency semapv:UnspecifiedMatching MONDO:0017909 inherited glutathione synthetase deficiency skos:exactMatch SCTID:234589002 semapv:UnspecifiedMatching MONDO:0017909 inherited glutathione synthetase deficiency skos:exactMatch UMLS:C5979912 semapv:UnspecifiedMatching MONDO:0017909 inherited glutathione synthetase deficiency skos:exactMatch mesh:C536835 semapv:UnspecifiedMatching MONDO:0017910 dehydrated hereditary stomatocytosis skos:exactMatch DOID:0111575 dehydrated hereditary stomatocytosis semapv:UnspecifiedMatching MONDO:0017910 dehydrated hereditary stomatocytosis skos:exactMatch MEDGEN:124415 semapv:UnspecifiedMatching MONDO:0017910 dehydrated hereditary stomatocytosis skos:exactMatch Orphanet:3202 Dehydrated hereditary stomatocytosis semapv:UnspecifiedMatching MONDO:0017910 dehydrated hereditary stomatocytosis skos:exactMatch SCTID:715526002 semapv:UnspecifiedMatching MONDO:0017910 dehydrated hereditary stomatocytosis skos:exactMatch UMLS:C0272051 semapv:UnspecifiedMatching MONDO:0017910 dehydrated hereditary stomatocytosis skos:exactMatch icd11.foundation:799088159 Dehydrated hereditary stomatocytosis semapv:UnspecifiedMatching MONDO:0017912 obsolete X-linked pure spastic paraplegia skos:exactMatch Orphanet:320332 X-linked pure spastic paraplegia semapv:UnspecifiedMatching MONDO:0017913 pure or complex hereditary spastic paraplegia skos:exactMatch MEDGEN:1843255 semapv:UnspecifiedMatching MONDO:0017913 pure or complex hereditary spastic paraplegia skos:exactMatch Orphanet:320335 Pure or complex hereditary spastic paraplegia semapv:UnspecifiedMatching MONDO:0017913 pure or complex hereditary spastic paraplegia skos:exactMatch UMLS:C5679885 semapv:UnspecifiedMatching MONDO:0017914 obsolete pure or complex autosomal dominant spastic paraplegia skos:exactMatch Orphanet:320342 Pure or complex autosomal dominant spastic paraplegia semapv:UnspecifiedMatching MONDO:0017915 obsolete pure or complex autosomal recessive spastic paraplegia skos:exactMatch Orphanet:320346 Pure or complex autosomal recessive spastic paraplegia semapv:UnspecifiedMatching MONDO:0017916 obsolete pure or complex X-linked spastic paraplegia skos:exactMatch Orphanet:320350 Pure or complex X-linked spastic paraplegia semapv:UnspecifiedMatching MONDO:0017917 maternally-inherited spastic paraplegia skos:exactMatch MEDGEN:1663227 semapv:UnspecifiedMatching MONDO:0017917 maternally-inherited spastic paraplegia skos:exactMatch Orphanet:320360 MT-ATP6-related mitochondrial spastic paraplegia semapv:UnspecifiedMatching MONDO:0017917 maternally-inherited spastic paraplegia skos:exactMatch UMLS:C4755299 semapv:UnspecifiedMatching MONDO:0017918 white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome skos:exactMatch MEDGEN:419038 semapv:UnspecifiedMatching MONDO:0017918 white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome skos:exactMatch Orphanet:3207 White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0017918 white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome skos:exactMatch UMLS:C2931292 semapv:UnspecifiedMatching MONDO:0017918 white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome skos:exactMatch mesh:C536701 semapv:UnspecifiedMatching MONDO:0017919 exstrophy-epispadias complex skos:exactMatch DOID:0080173 bladder exstrophy-epispadias-cloacal exstrophy complex semapv:UnspecifiedMatching MONDO:0017919 exstrophy-epispadias complex skos:exactMatch MEDGEN:338020 semapv:UnspecifiedMatching MONDO:0017919 exstrophy-epispadias complex skos:exactMatch NCIT:C99142 OEIS Complex semapv:UnspecifiedMatching MONDO:0017919 exstrophy-epispadias complex skos:exactMatch OMIM:258040 oeis complex semapv:UnspecifiedMatching MONDO:0017919 exstrophy-epispadias complex skos:exactMatch Orphanet:322 Exstrophy-epispadias complex semapv:UnspecifiedMatching MONDO:0017919 exstrophy-epispadias complex skos:exactMatch UMLS:C1850321 semapv:UnspecifiedMatching MONDO:0017920 deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome skos:exactMatch MEDGEN:419464 semapv:UnspecifiedMatching MONDO:0017920 deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome skos:exactMatch Orphanet:3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome semapv:UnspecifiedMatching MONDO:0017920 deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome skos:exactMatch SCTID:721086004 semapv:UnspecifiedMatching MONDO:0017920 deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome skos:exactMatch UMLS:C2931654 semapv:UnspecifiedMatching MONDO:0017920 deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome skos:exactMatch mesh:C537887 semapv:UnspecifiedMatching MONDO:0017921 hearing loss-familial salivary gland insensitivity to aldosterone syndrome skos:exactMatch MEDGEN:419395 semapv:UnspecifiedMatching MONDO:0017921 hearing loss-familial salivary gland insensitivity to aldosterone syndrome skos:exactMatch Orphanet:3225 Hearing loss-familial salivary gland insensitivity to aldosterone syndrome semapv:UnspecifiedMatching MONDO:0017921 hearing loss-familial salivary gland insensitivity to aldosterone syndrome skos:exactMatch SCTID:716239006 semapv:UnspecifiedMatching MONDO:0017921 hearing loss-familial salivary gland insensitivity to aldosterone syndrome skos:exactMatch UMLS:C2931369 semapv:UnspecifiedMatching MONDO:0017921 hearing loss-familial salivary gland insensitivity to aldosterone syndrome skos:exactMatch mesh:C536927 semapv:UnspecifiedMatching MONDO:0017922 obsolete deafness-onychodystrophy syndrome skos:exactMatch Orphanet:3231 Deafness-onychodystrophy syndrome semapv:UnspecifiedMatching MONDO:0017923 multiple synostoses syndrome skos:exactMatch DOID:0050794 multiple synostoses syndrome semapv:UnspecifiedMatching MONDO:0017923 multiple synostoses syndrome skos:exactMatch MEDGEN:511579 semapv:UnspecifiedMatching MONDO:0017923 multiple synostoses syndrome skos:exactMatch OMIMPS:186500 Multiple synostoses syndrome semapv:UnspecifiedMatching MONDO:0017923 multiple synostoses syndrome skos:exactMatch Orphanet:3237 Multiple synostoses syndrome semapv:UnspecifiedMatching MONDO:0017923 multiple synostoses syndrome skos:exactMatch UMLS:C0175700 semapv:UnspecifiedMatching MONDO:0017923 multiple synostoses syndrome skos:exactMatch icd11.foundation:248917534 Multiple synostoses syndrome semapv:UnspecifiedMatching MONDO:0017924 central nervous system calcification-deafness-tubular acidosis-anemia syndrome skos:exactMatch MEDGEN:1384620 semapv:UnspecifiedMatching MONDO:0017924 central nervous system calcification-deafness-tubular acidosis-anemia syndrome skos:exactMatch Orphanet:3240 Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome semapv:UnspecifiedMatching MONDO:0017924 central nervous system calcification-deafness-tubular acidosis-anemia syndrome skos:exactMatch UMLS:C4512024 semapv:UnspecifiedMatching MONDO:0017925 T-cell immunodeficiency with epidermodysplasia verruciformis skos:exactMatch MEDGEN:1648416 semapv:UnspecifiedMatching MONDO:0017925 T-cell immunodeficiency with epidermodysplasia verruciformis skos:exactMatch Orphanet:324294 T-cell immunodeficiency with epidermodysplasia verruciformis semapv:UnspecifiedMatching MONDO:0017925 T-cell immunodeficiency with epidermodysplasia verruciformis skos:exactMatch UMLS:C4749500 semapv:UnspecifiedMatching MONDO:0017926 multiple paragangliomas associated with polycythemia skos:exactMatch MEDGEN:1812993 semapv:UnspecifiedMatching MONDO:0017926 multiple paragangliomas associated with polycythemia skos:exactMatch Orphanet:324299 Multiple paragangliomas associated with polycythemia semapv:UnspecifiedMatching MONDO:0017926 multiple paragangliomas associated with polycythemia skos:exactMatch UMLS:C5679884 semapv:UnspecifiedMatching MONDO:0017927 severe lateral tibial bowing with short stature skos:exactMatch MEDGEN:1634340 semapv:UnspecifiedMatching MONDO:0017927 severe lateral tibial bowing with short stature skos:exactMatch Orphanet:324307 Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome semapv:UnspecifiedMatching MONDO:0017927 severe lateral tibial bowing with short stature skos:exactMatch SCTID:766819001 semapv:UnspecifiedMatching MONDO:0017927 severe lateral tibial bowing with short stature skos:exactMatch UMLS:C4707850 semapv:UnspecifiedMatching MONDO:0017928 9p13 microdeletion syndrome skos:exactMatch MEDGEN:1635922 semapv:UnspecifiedMatching MONDO:0017928 9p13 microdeletion syndrome skos:exactMatch Orphanet:324313 9p13 microdeletion syndrome semapv:UnspecifiedMatching MONDO:0017928 9p13 microdeletion syndrome skos:exactMatch SCTID:764725008 semapv:UnspecifiedMatching MONDO:0017928 9p13 microdeletion syndrome skos:exactMatch UMLS:C4707097 semapv:UnspecifiedMatching MONDO:0017929 congenital achiasma skos:exactMatch MEDGEN:1392790 semapv:UnspecifiedMatching MONDO:0017929 congenital achiasma skos:exactMatch Orphanet:324353 Congenital achiasma semapv:UnspecifiedMatching MONDO:0017929 congenital achiasma skos:exactMatch SCTID:734031008 semapv:UnspecifiedMatching MONDO:0017929 congenital achiasma skos:exactMatch UMLS:C4518345 semapv:UnspecifiedMatching MONDO:0017930 mixed sclerosing bone dystrophy with extra-skeletal manifestations skos:exactMatch MEDGEN:1676501 semapv:UnspecifiedMatching MONDO:0017930 mixed sclerosing bone dystrophy with extra-skeletal manifestations skos:exactMatch Orphanet:324364 Mixed sclerosing bone dystrophy with extra-skeletal manifestations semapv:UnspecifiedMatching MONDO:0017930 mixed sclerosing bone dystrophy with extra-skeletal manifestations skos:exactMatch UMLS:C5191052 semapv:UnspecifiedMatching MONDO:0017931 hereditary inclusion body myopathy type 4 skos:exactMatch MEDGEN:1669421 semapv:UnspecifiedMatching MONDO:0017931 hereditary inclusion body myopathy type 4 skos:exactMatch Orphanet:324381 Hereditary inclusion body myopathy type 4 semapv:UnspecifiedMatching MONDO:0017931 hereditary inclusion body myopathy type 4 skos:exactMatch UMLS:C4749501 semapv:UnspecifiedMatching MONDO:0017932 muscular hypertrophy-hepatomegaly-polyhydramnios syndrome skos:exactMatch MEDGEN:1665387 semapv:UnspecifiedMatching MONDO:0017932 muscular hypertrophy-hepatomegaly-polyhydramnios syndrome skos:exactMatch Orphanet:324416 Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome semapv:UnspecifiedMatching MONDO:0017932 muscular hypertrophy-hepatomegaly-polyhydramnios syndrome skos:exactMatch UMLS:C4751007 semapv:UnspecifiedMatching MONDO:0017933 hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation skos:exactMatch MEDGEN:1650300 semapv:UnspecifiedMatching MONDO:0017933 hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation skos:exactMatch Orphanet:324525 Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation semapv:UnspecifiedMatching MONDO:0017933 hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation skos:exactMatch UMLS:C4749942 semapv:UnspecifiedMatching MONDO:0017934 aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome skos:exactMatch MEDGEN:1651057 semapv:UnspecifiedMatching MONDO:0017934 aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome skos:exactMatch Orphanet:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0017934 aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome skos:exactMatch UMLS:C4751006 semapv:UnspecifiedMatching MONDO:0017935 hyperinsulinism due to HNF1A deficiency skos:exactMatch MEDGEN:929144 semapv:UnspecifiedMatching MONDO:0017935 hyperinsulinism due to HNF1A deficiency skos:exactMatch Orphanet:324575 Hyperinsulinism due to HNF1A deficiency semapv:UnspecifiedMatching MONDO:0017935 hyperinsulinism due to HNF1A deficiency skos:exactMatch SCTID:721234004 semapv:UnspecifiedMatching MONDO:0017935 hyperinsulinism due to HNF1A deficiency skos:exactMatch UMLS:C4303475 semapv:UnspecifiedMatching MONDO:0017936 benign Samaritan congenital myopathy skos:exactMatch MEDGEN:1666762 semapv:UnspecifiedMatching MONDO:0017936 benign Samaritan congenital myopathy skos:exactMatch Orphanet:324581 Benign Samaritan congenital myopathy semapv:UnspecifiedMatching MONDO:0017936 benign Samaritan congenital myopathy skos:exactMatch UMLS:C4749502 semapv:UnspecifiedMatching MONDO:0017937 autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain skos:exactMatch MEDGEN:1650625 semapv:UnspecifiedMatching MONDO:0017937 autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain skos:exactMatch Orphanet:324585 Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain semapv:UnspecifiedMatching MONDO:0017937 autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain skos:exactMatch UMLS:C4755257 semapv:UnspecifiedMatching MONDO:0017939 classic multiminicore myopathy skos:exactMatch MEDGEN:1826166 semapv:UnspecifiedMatching MONDO:0017939 classic multiminicore myopathy skos:exactMatch Orphanet:324604 Classic multiminicore myopathy semapv:UnspecifiedMatching MONDO:0017939 classic multiminicore myopathy skos:exactMatch UMLS:C5679883 semapv:UnspecifiedMatching MONDO:0017940 autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation skos:exactMatch MEDGEN:1633598 semapv:UnspecifiedMatching MONDO:0017940 autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation skos:exactMatch Orphanet:324611 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation semapv:UnspecifiedMatching MONDO:0017940 autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation skos:exactMatch SCTID:764730007 semapv:UnspecifiedMatching MONDO:0017940 autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation skos:exactMatch UMLS:C4707173 semapv:UnspecifiedMatching MONDO:0017941 chikungunya skos:exactMatch DOID:0050012 chikungunya semapv:UnspecifiedMatching MONDO:0017941 chikungunya skos:exactMatch MEDGEN:3362 semapv:UnspecifiedMatching MONDO:0017941 chikungunya skos:exactMatch NCIT:C128422 Chikungunya semapv:UnspecifiedMatching MONDO:0017941 chikungunya skos:exactMatch Orphanet:324625 Chikungunya semapv:UnspecifiedMatching MONDO:0017941 chikungunya skos:exactMatch SCTID:111864006 semapv:UnspecifiedMatching MONDO:0017941 chikungunya skos:exactMatch UMLS:C0008055 semapv:UnspecifiedMatching MONDO:0017941 chikungunya skos:exactMatch icd11.foundation:900389391 Chikungunya virus disease semapv:UnspecifiedMatching MONDO:0017941 chikungunya skos:exactMatch mesh:D065632 semapv:UnspecifiedMatching MONDO:0017942 Hendra virus infection skos:exactMatch MEDGEN:1388276 semapv:UnspecifiedMatching MONDO:0017942 Hendra virus infection skos:exactMatch Orphanet:324632 Hendra virus infection semapv:UnspecifiedMatching MONDO:0017942 Hendra virus infection skos:exactMatch UMLS:C4505487 semapv:UnspecifiedMatching MONDO:0017943 autoerythrocyte sensitization syndrome skos:exactMatch MEDGEN:90141 semapv:UnspecifiedMatching MONDO:0017943 autoerythrocyte sensitization syndrome skos:exactMatch Orphanet:324636 Autoerythrocyte sensitization syndrome semapv:UnspecifiedMatching MONDO:0017943 autoerythrocyte sensitization syndrome skos:exactMatch SCTID:275446004 semapv:UnspecifiedMatching MONDO:0017943 autoerythrocyte sensitization syndrome skos:exactMatch UMLS:C0301928 semapv:UnspecifiedMatching MONDO:0017943 autoerythrocyte sensitization syndrome skos:exactMatch mesh:C535645 semapv:UnspecifiedMatching MONDO:0017944 invasive non-typhoidal salmonellosis skos:exactMatch MEDGEN:1638286 semapv:UnspecifiedMatching MONDO:0017944 invasive non-typhoidal salmonellosis skos:exactMatch Orphanet:324648 Invasive non-typhoidal salmonellosis semapv:UnspecifiedMatching MONDO:0017944 invasive non-typhoidal salmonellosis skos:exactMatch SCTID:763772002 semapv:UnspecifiedMatching MONDO:0017944 invasive non-typhoidal salmonellosis skos:exactMatch UMLS:C4706572 semapv:UnspecifiedMatching MONDO:0017945 ABetaL34V amyloidosis skos:exactMatch MEDGEN:1842835 semapv:UnspecifiedMatching MONDO:0017945 ABetaL34V amyloidosis skos:exactMatch Orphanet:324703 ABetaL34V amyloidosis semapv:UnspecifiedMatching MONDO:0017945 ABetaL34V amyloidosis skos:exactMatch UMLS:C5679882 semapv:UnspecifiedMatching MONDO:0017946 ABeta amyloidosis, Iowa type skos:exactMatch MEDGEN:854855 semapv:UnspecifiedMatching MONDO:0017946 ABeta amyloidosis, Iowa type skos:exactMatch Orphanet:324708 ABeta amyloidosis, Iowa type semapv:UnspecifiedMatching MONDO:0017946 ABeta amyloidosis, Iowa type skos:exactMatch UMLS:C3888309 semapv:UnspecifiedMatching MONDO:0017947 ABeta amyloidosis, Italian type skos:exactMatch MEDGEN:854854 semapv:UnspecifiedMatching MONDO:0017947 ABeta amyloidosis, Italian type skos:exactMatch Orphanet:324713 ABeta amyloidosis, Italian type semapv:UnspecifiedMatching MONDO:0017947 ABeta amyloidosis, Italian type skos:exactMatch UMLS:C3888308 semapv:UnspecifiedMatching MONDO:0017948 ABetaA21G amyloidosis skos:exactMatch MEDGEN:854853 semapv:UnspecifiedMatching MONDO:0017948 ABetaA21G amyloidosis skos:exactMatch Orphanet:324718 ABetaA21G amyloidosis semapv:UnspecifiedMatching MONDO:0017948 ABetaA21G amyloidosis skos:exactMatch UMLS:C3888307 semapv:UnspecifiedMatching MONDO:0017949 ABeta amyloidosis, Arctic type skos:exactMatch MEDGEN:414032 semapv:UnspecifiedMatching MONDO:0017949 ABeta amyloidosis, Arctic type skos:exactMatch Orphanet:324723 ABeta amyloidosis, Arctic type semapv:UnspecifiedMatching MONDO:0017949 ABeta amyloidosis, Arctic type skos:exactMatch UMLS:C2751494 semapv:UnspecifiedMatching MONDO:0017950 obsolete microcephalic primordial dwarfism skos:exactMatch Orphanet:324761 Microcephalic primordial dwarfism semapv:UnspecifiedMatching MONDO:0017951 trichorhinophalangeal syndrome skos:exactMatch MEDGEN:539179 semapv:UnspecifiedMatching MONDO:0017951 trichorhinophalangeal syndrome skos:exactMatch OMIMPS:190350 Trichorhinophalangeal syndrome semapv:UnspecifiedMatching MONDO:0017951 trichorhinophalangeal syndrome skos:exactMatch Orphanet:324764 Trichorhinophalangeal syndrome semapv:UnspecifiedMatching MONDO:0017951 trichorhinophalangeal syndrome skos:exactMatch SCTID:18077009 semapv:UnspecifiedMatching MONDO:0017951 trichorhinophalangeal syndrome skos:exactMatch UMLS:C0265255 semapv:UnspecifiedMatching MONDO:0017952 obsolete non-familial rare disease with dilated cardiomyopathy skos:exactMatch Orphanet:324767 Non-familial rare disease with dilated cardiomyopathy semapv:UnspecifiedMatching MONDO:0017953 hereditary periodic fever syndrome skos:exactMatch MEDGEN:199651 semapv:UnspecifiedMatching MONDO:0017953 hereditary periodic fever syndrome skos:exactMatch Orphanet:324924 Hereditary periodic fever syndrome semapv:UnspecifiedMatching MONDO:0017953 hereditary periodic fever syndrome skos:exactMatch UMLS:C0751422 semapv:UnspecifiedMatching MONDO:0017953 hereditary periodic fever syndrome skos:exactMatch mesh:D056660 semapv:UnspecifiedMatching MONDO:0017954 obsolete pyogenic autoinflammatory syndrome skos:exactMatch Orphanet:324927 Pyogenic autoinflammatory syndrome semapv:UnspecifiedMatching MONDO:0017955 obsolete granulomatous autoinflammatory syndrome skos:exactMatch Orphanet:324930 Granulomatous autoinflammatory syndrome semapv:UnspecifiedMatching MONDO:0017956 obsolete mixed autoinflammatory and autoimmune syndrome skos:exactMatch Orphanet:324933 Mixed autoinflammatory and autoimmune syndrome semapv:UnspecifiedMatching MONDO:0017957 obsolete unclassified autoinflammatory syndrome skos:exactMatch Orphanet:324936 Unclassified autoinflammatory syndrome semapv:UnspecifiedMatching MONDO:0017958 magic syndrome skos:exactMatch MEDGEN:590513 semapv:UnspecifiedMatching MONDO:0017958 magic syndrome skos:exactMatch Orphanet:324972 MAGIC syndrome semapv:UnspecifiedMatching MONDO:0017958 magic syndrome skos:exactMatch UMLS:C0406568 semapv:UnspecifiedMatching MONDO:0017961 obsolete 46,XX disorder of gonadal development skos:exactMatch Orphanet:325055 46,XX disorder of gonadal development semapv:UnspecifiedMatching MONDO:0017962 obsolete 46,XX disorder of sex development induced by fetoplacental androgens excess skos:exactMatch Orphanet:325061 46,XX difference of sex development induced by fetoplacental androgens excess semapv:UnspecifiedMatching MONDO:0017963 obsolete 46,XX disorder of sex development induced by endogenous maternal-derived androgen skos:exactMatch Orphanet:325093 46,XX difference of sex development induced by endogenous maternal-derived androgen semapv:UnspecifiedMatching MONDO:0017964 obsolete 46,XX disorder of sex development induced by exogenous maternal-derived androgen skos:exactMatch Orphanet:325099 46,XX difference of sex development induced by exogenous maternal-derived androgen semapv:UnspecifiedMatching MONDO:0017965 obsolete syndrome with 46,XX disorder of sex development skos:exactMatch Orphanet:325109 Syndrome with 46,XX difference of sex development semapv:UnspecifiedMatching MONDO:0017966 obsolete 46,XY disorder of gonadal development skos:exactMatch Orphanet:325118 46,XY disorder of gonadal development semapv:UnspecifiedMatching MONDO:0017967 testicular agenesis skos:exactMatch MEDGEN:98344 semapv:UnspecifiedMatching MONDO:0017967 testicular agenesis skos:exactMatch Orphanet:325124 Testicular agenesis semapv:UnspecifiedMatching MONDO:0017967 testicular agenesis skos:exactMatch SCTID:371015003 semapv:UnspecifiedMatching MONDO:0017967 testicular agenesis skos:exactMatch UMLS:C0405582 semapv:UnspecifiedMatching MONDO:0017967 testicular agenesis skos:exactMatch icd11.foundation:1382370664 Testicular agenesis semapv:UnspecifiedMatching MONDO:0017968 46,XY ovotesticular disorder of sex development skos:exactMatch MEDGEN:394582 semapv:UnspecifiedMatching MONDO:0017968 46,XY ovotesticular disorder of sex development skos:exactMatch Orphanet:325345 46,XY ovotesticular difference of sex development semapv:UnspecifiedMatching MONDO:0017968 46,XY ovotesticular disorder of sex development skos:exactMatch SCTID:763683004 semapv:UnspecifiedMatching MONDO:0017968 46,XY ovotesticular disorder of sex development skos:exactMatch UMLS:C2697358 semapv:UnspecifiedMatching MONDO:0017969 obsolete 46,XY disorder of sex development of endocrine origin skos:exactMatch Orphanet:325351 46,XY difference of sex development of endocrine origin semapv:UnspecifiedMatching MONDO:0017970 obsolete 46,XY disorder of sex development due to impaired androgen production skos:exactMatch Orphanet:325357 46,XY difference of sex development due to impaired androgen production semapv:UnspecifiedMatching MONDO:0017971 obsolete 46,XY disorder of sex development due to a cholesterol synthesis defect skos:exactMatch Orphanet:325511 46,XY difference of sex development due to a cholesterol synthesis defect semapv:UnspecifiedMatching MONDO:0017972 classic congenital lipoid adrenal hyperplasia due to STAR deficency skos:exactMatch MEDGEN:1842881 semapv:UnspecifiedMatching MONDO:0017972 classic congenital lipoid adrenal hyperplasia due to STAR deficency skos:exactMatch Orphanet:325524 Classic congenital lipoid adrenal hyperplasia due to STAR deficency semapv:UnspecifiedMatching MONDO:0017972 classic congenital lipoid adrenal hyperplasia due to STAR deficency skos:exactMatch UMLS:C5679869 semapv:UnspecifiedMatching MONDO:0017973 non-classic congenital lipoid adrenal hyperplasia due to STAR deficency skos:exactMatch MEDGEN:1842170 semapv:UnspecifiedMatching MONDO:0017973 non-classic congenital lipoid adrenal hyperplasia due to STAR deficency skos:exactMatch Orphanet:325529 Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency semapv:UnspecifiedMatching MONDO:0017973 non-classic congenital lipoid adrenal hyperplasia due to STAR deficency skos:exactMatch UMLS:C5680948 semapv:UnspecifiedMatching MONDO:0017974 obsolete 46,XY disorder of sex development induced by maternal-exposure to endocrine disruptors skos:exactMatch Orphanet:325537 46,XY difference of sex development induced by maternal exposure to endocrine disruptors semapv:UnspecifiedMatching MONDO:0017975 sex chromosome disorder of sex development skos:exactMatch MEDGEN:423530 semapv:UnspecifiedMatching MONDO:0017975 sex chromosome disorder of sex development skos:exactMatch Orphanet:325546 Sex chromosome difference of sex development semapv:UnspecifiedMatching MONDO:0017975 sex chromosome disorder of sex development skos:exactMatch UMLS:C2936421 semapv:UnspecifiedMatching MONDO:0017975 sex chromosome disorder of sex development skos:exactMatch mesh:D058533 semapv:UnspecifiedMatching MONDO:0017976 obsolete disorder of sex development of gynecological interest skos:exactMatch Orphanet:325620 Difference of sex development of gynecological interest semapv:UnspecifiedMatching MONDO:0017977 obsolete 46,XY disorder of sex development of gynecological interest skos:exactMatch Orphanet:325632 46,XY difference of sex development of gynecological interest semapv:UnspecifiedMatching MONDO:0017978 obsolete syndrome with disorder of sex development of gynecological interest skos:exactMatch Orphanet:325638 Syndrome with difference of sex development of gynecological interest semapv:UnspecifiedMatching MONDO:0017979 autoimmune lymphoproliferative syndrome skos:exactMatch DOID:6688 autoimmune lymphoproliferative syndrome semapv:UnspecifiedMatching MONDO:0017979 autoimmune lymphoproliferative syndrome skos:exactMatch ICD10CM:D89.82 Autoimmune lymphoproliferative syndrome [ALPS] semapv:UnspecifiedMatching MONDO:0017979 autoimmune lymphoproliferative syndrome skos:exactMatch NCIT:C37864 Autoimmune Lymphoproliferative Syndrome semapv:UnspecifiedMatching MONDO:0017979 autoimmune lymphoproliferative syndrome skos:exactMatch Orphanet:3261 Autoimmune lymphoproliferative syndrome semapv:UnspecifiedMatching MONDO:0017979 autoimmune lymphoproliferative syndrome skos:exactMatch icd11.foundation:1072688797 Autoimmune lymphoproliferative syndrome semapv:UnspecifiedMatching MONDO:0017979 autoimmune lymphoproliferative syndrome skos:exactMatch mesh:D056735 semapv:UnspecifiedMatching MONDO:0017980 syngnathia multiple anomalies skos:exactMatch MEDGEN:1678646 semapv:UnspecifiedMatching MONDO:0017980 syngnathia multiple anomalies skos:exactMatch Orphanet:3262 Dobrow syndrome semapv:UnspecifiedMatching MONDO:0017980 syngnathia multiple anomalies skos:exactMatch UMLS:C5190737 semapv:UnspecifiedMatching MONDO:0017981 syngnathia-cleft palate syndrome skos:exactMatch MEDGEN:1842763 semapv:UnspecifiedMatching MONDO:0017981 syngnathia-cleft palate syndrome skos:exactMatch Orphanet:3263 Syngnathia-cleft palate syndrome semapv:UnspecifiedMatching MONDO:0017981 syngnathia-cleft palate syndrome skos:exactMatch UMLS:C5680792 semapv:UnspecifiedMatching MONDO:0017983 humero-radio-ulnar synostosis skos:exactMatch MEDGEN:1656946 semapv:UnspecifiedMatching MONDO:0017983 humero-radio-ulnar synostosis skos:exactMatch Orphanet:3266 Isolated humero-radio-ulnar synostosis semapv:UnspecifiedMatching MONDO:0017983 humero-radio-ulnar synostosis skos:exactMatch UMLS:C4751207 semapv:UnspecifiedMatching MONDO:0017983 humero-radio-ulnar synostosis skos:exactMatch icd11.foundation:1798339866 Humero-radio-ulnar synostosis semapv:UnspecifiedMatching MONDO:0017984 obsolete familial lambdoid synostosis skos:exactMatch Orphanet:3267 OBSOLETE: Familial lambdoid synostosis semapv:UnspecifiedMatching MONDO:0017984 obsolete familial lambdoid synostosis skos:exactMatch SCTID:766884000 semapv:UnspecifiedMatching MONDO:0017985 congenital radioulnar synostosis skos:exactMatch DOID:9827 radioulnar synostosis semapv:UnspecifiedMatching MONDO:0017985 congenital radioulnar synostosis skos:exactMatch MEDGEN:57861 semapv:UnspecifiedMatching MONDO:0017985 congenital radioulnar synostosis skos:exactMatch Orphanet:3269 Isolated radio-ulnar synostosis semapv:UnspecifiedMatching MONDO:0017985 congenital radioulnar synostosis skos:exactMatch SCTID:33313004 semapv:UnspecifiedMatching MONDO:0017985 congenital radioulnar synostosis skos:exactMatch UMLS:C0158761 semapv:UnspecifiedMatching MONDO:0017985 congenital radioulnar synostosis skos:exactMatch icd11.foundation:1098526181 Radio-ulnar synostosis semapv:UnspecifiedMatching MONDO:0017985 congenital radioulnar synostosis skos:exactMatch mesh:C562408 semapv:UnspecifiedMatching MONDO:0017986 disorder of plasmalogens biosynthesis skos:exactMatch MEDGEN:1842510 semapv:UnspecifiedMatching MONDO:0017986 disorder of plasmalogens biosynthesis skos:exactMatch Orphanet:3276 Disorder of plasmalogens biosynthesis semapv:UnspecifiedMatching MONDO:0017986 disorder of plasmalogens biosynthesis skos:exactMatch UMLS:C5681192 semapv:UnspecifiedMatching MONDO:0017987 syringomyelia skos:exactMatch DOID:327 syringomyelia semapv:UnspecifiedMatching MONDO:0017987 syringomyelia skos:exactMatch MEDGEN:21449 semapv:UnspecifiedMatching MONDO:0017987 syringomyelia skos:exactMatch NCIT:C85179 Syringomyelia semapv:UnspecifiedMatching MONDO:0017987 syringomyelia skos:exactMatch Orphanet:3280 Syringomyelia semapv:UnspecifiedMatching MONDO:0017987 syringomyelia skos:exactMatch SCTID:111496009 semapv:UnspecifiedMatching MONDO:0017987 syringomyelia skos:exactMatch UMLS:C0039144 semapv:UnspecifiedMatching MONDO:0017987 syringomyelia skos:exactMatch icd11.foundation:1161887622 Syringomyelia semapv:UnspecifiedMatching MONDO:0017987 syringomyelia skos:exactMatch mesh:D013595 semapv:UnspecifiedMatching MONDO:0017988 multifocal atrial tachycardia skos:exactMatch MEDGEN:66362 semapv:UnspecifiedMatching MONDO:0017988 multifocal atrial tachycardia skos:exactMatch Orphanet:3282 Multifocal atrial tachycardia semapv:UnspecifiedMatching MONDO:0017988 multifocal atrial tachycardia skos:exactMatch SCTID:49982000 semapv:UnspecifiedMatching MONDO:0017988 multifocal atrial tachycardia skos:exactMatch UMLS:C0221158 semapv:UnspecifiedMatching MONDO:0017988 multifocal atrial tachycardia skos:exactMatch icd11.foundation:262929566 Multifocal atrial tachycardia semapv:UnspecifiedMatching MONDO:0017989 His bundle tachycardia skos:exactMatch MEDGEN:21066 semapv:UnspecifiedMatching MONDO:0017989 His bundle tachycardia skos:exactMatch NCIT:C111646 Junctional Ectopic Tachycardia semapv:UnspecifiedMatching MONDO:0017989 His bundle tachycardia skos:exactMatch Orphanet:3283 His bundle tachycardia semapv:UnspecifiedMatching MONDO:0017989 His bundle tachycardia skos:exactMatch SCTID:233901002 semapv:UnspecifiedMatching MONDO:0017989 His bundle tachycardia skos:exactMatch UMLS:C0039235 semapv:UnspecifiedMatching MONDO:0017989 His bundle tachycardia skos:exactMatch icd11.foundation:962827983 Junctional ectopic tachycardia semapv:UnspecifiedMatching MONDO:0017989 His bundle tachycardia skos:exactMatch mesh:D013613 semapv:UnspecifiedMatching MONDO:0017990 catecholaminergic polymorphic ventricular tachycardia skos:exactMatch DOID:0060674 catecholaminergic polymorphic ventricular tachycardia semapv:UnspecifiedMatching MONDO:0017990 catecholaminergic polymorphic ventricular tachycardia skos:exactMatch MEDGEN:1803763 semapv:UnspecifiedMatching MONDO:0017990 catecholaminergic polymorphic ventricular tachycardia skos:exactMatch OMIMPS:604772 Ventricular tachycardia, catecholaminergic polymorphic semapv:UnspecifiedMatching MONDO:0017990 catecholaminergic polymorphic ventricular tachycardia skos:exactMatch Orphanet:3286 Catecholaminergic polymorphic ventricular tachycardia semapv:UnspecifiedMatching MONDO:0017990 catecholaminergic polymorphic ventricular tachycardia skos:exactMatch SCTID:419671004 semapv:UnspecifiedMatching MONDO:0017990 catecholaminergic polymorphic ventricular tachycardia skos:exactMatch UMLS:C5574922 semapv:UnspecifiedMatching MONDO:0017990 catecholaminergic polymorphic ventricular tachycardia skos:exactMatch icd11.foundation:976309888 Catecholaminergic polymorphic ventricular tachycardia semapv:UnspecifiedMatching MONDO:0017990 catecholaminergic polymorphic ventricular tachycardia skos:exactMatch mesh:C536334 semapv:UnspecifiedMatching MONDO:0017991 Takayasu arteritis skos:exactMatch DOID:2508 Takayasu's arteritis semapv:UnspecifiedMatching MONDO:0017991 Takayasu arteritis skos:exactMatch EFO:1001857 semapv:UnspecifiedMatching MONDO:0017991 Takayasu arteritis skos:exactMatch ICD10CM:M31.4 Aortic arch syndrome [Takayasu] semapv:UnspecifiedMatching MONDO:0017991 Takayasu arteritis skos:exactMatch MEDGEN:21458 semapv:UnspecifiedMatching MONDO:0017991 Takayasu arteritis skos:exactMatch NCIT:C34391 Aortic Arch Syndrome semapv:UnspecifiedMatching MONDO:0017991 Takayasu arteritis skos:exactMatch NCIT:C35062 Takayasu Arteritis semapv:UnspecifiedMatching MONDO:0017991 Takayasu arteritis skos:exactMatch OMIM:207600 takayasu arteritis semapv:UnspecifiedMatching MONDO:0017991 Takayasu arteritis skos:exactMatch Orphanet:3287 Takayasu arteritis semapv:UnspecifiedMatching MONDO:0017991 Takayasu arteritis skos:exactMatch Orphanet:99079 Cervical aortic arch semapv:UnspecifiedMatching MONDO:0017991 Takayasu arteritis skos:exactMatch SCTID:239937004 semapv:UnspecifiedMatching MONDO:0017991 Takayasu arteritis skos:exactMatch UMLS:C0039263 semapv:UnspecifiedMatching MONDO:0017991 Takayasu arteritis skos:exactMatch icd11.foundation:1327645131 Aortic arch syndrome semapv:UnspecifiedMatching MONDO:0017991 Takayasu arteritis skos:exactMatch mesh:D013625 semapv:UnspecifiedMatching MONDO:0017992 autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis skos:exactMatch MEDGEN:1720168 semapv:UnspecifiedMatching MONDO:0017992 autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis skos:exactMatch Orphanet:329173 Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis semapv:UnspecifiedMatching MONDO:0017992 autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis skos:exactMatch UMLS:C5394674 semapv:UnspecifiedMatching MONDO:0017993 cerebral sinovenous thrombosis skos:exactMatch MEDGEN:572643 semapv:UnspecifiedMatching MONDO:0017993 cerebral sinovenous thrombosis skos:exactMatch Orphanet:329217 Cerebral sinovenous thrombosis semapv:UnspecifiedMatching MONDO:0017993 cerebral sinovenous thrombosis skos:exactMatch UMLS:C0338573 semapv:UnspecifiedMatching MONDO:0017994 severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency skos:exactMatch MEDGEN:1674241 semapv:UnspecifiedMatching MONDO:0017994 severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency skos:exactMatch Orphanet:329249 Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency semapv:UnspecifiedMatching MONDO:0017994 severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency skos:exactMatch UMLS:C5190989 semapv:UnspecifiedMatching MONDO:0017995 spondylocostal dysostosis-hypospadias-intellectual disability syndrome skos:exactMatch MEDGEN:1665083 semapv:UnspecifiedMatching MONDO:0017995 spondylocostal dysostosis-hypospadias-intellectual disability syndrome skos:exactMatch UMLS:C4751002 semapv:UnspecifiedMatching MONDO:0017996 obsolete blepharophimosis - intellectual disability syndrome due to UBE3B deficiency skos:exactMatch OMIM:615057 semapv:UnspecifiedMatching MONDO:0017996 obsolete blepharophimosis - intellectual disability syndrome due to UBE3B deficiency skos:exactMatch Orphanet:329255 Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency semapv:UnspecifiedMatching MONDO:0017997 telecanthus-hypertelorism-strabismus-pes cavus syndrome skos:exactMatch Orphanet:3293 Telecanthus-hypertelorism-strabismus-pes cavus syndrome semapv:UnspecifiedMatching MONDO:0017998 PLA2G6-associated neurodegeneration skos:exactMatch Orphanet:329303 PLA2G6-associated neurodegeneration semapv:UnspecifiedMatching MONDO:0017999 fatty acid hydroxylase-associated neurodegeneration skos:exactMatch MEDGEN:777150 semapv:UnspecifiedMatching MONDO:0017999 fatty acid hydroxylase-associated neurodegeneration skos:exactMatch Orphanet:329308 Fatty acid hydroxylase-associated neurodegeneration semapv:UnspecifiedMatching MONDO:0017999 fatty acid hydroxylase-associated neurodegeneration skos:exactMatch UMLS:C3668943 semapv:UnspecifiedMatching MONDO:0017999 fatty acid hydroxylase-associated neurodegeneration skos:exactMatch mesh:C580102 semapv:UnspecifiedMatching MONDO:0018000 hereditary thrombocytosis with transverse limb defect skos:exactMatch MEDGEN:1653707 semapv:UnspecifiedMatching MONDO:0018000 hereditary thrombocytosis with transverse limb defect skos:exactMatch Orphanet:329319 Thrombocythemia with distal limb defects semapv:UnspecifiedMatching MONDO:0018000 hereditary thrombocytosis with transverse limb defect skos:exactMatch UMLS:C4749944 semapv:UnspecifiedMatching MONDO:0018002 adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy skos:exactMatch MEDGEN:1393682 semapv:UnspecifiedMatching MONDO:0018002 adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy skos:exactMatch Orphanet:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy semapv:UnspecifiedMatching MONDO:0018002 adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy skos:exactMatch SCTID:725464001 semapv:UnspecifiedMatching MONDO:0018002 adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy skos:exactMatch UMLS:C4511138 semapv:UnspecifiedMatching MONDO:0018003 limbic encephalitis with DPP6 antibodies skos:exactMatch MEDGEN:1664407 semapv:UnspecifiedMatching MONDO:0018003 limbic encephalitis with DPP6 antibodies skos:exactMatch UMLS:C4750833 semapv:UnspecifiedMatching MONDO:0018004 acute megakaryoblastic leukemia without down syndrome skos:exactMatch MEDGEN:1843134 semapv:UnspecifiedMatching MONDO:0018004 acute megakaryoblastic leukemia without down syndrome skos:exactMatch Orphanet:329469 Acute megakaryoblastic leukemia in children without Down syndrome semapv:UnspecifiedMatching MONDO:0018004 acute megakaryoblastic leukemia without down syndrome skos:exactMatch UMLS:C5679860 semapv:UnspecifiedMatching MONDO:0018005 spastic paraplegia-Paget disease of bone syndrome skos:exactMatch MEDGEN:1388986 semapv:UnspecifiedMatching MONDO:0018005 spastic paraplegia-Paget disease of bone syndrome skos:exactMatch Orphanet:329475 Spastic paraplegia-Paget disease of bone syndrome semapv:UnspecifiedMatching MONDO:0018005 spastic paraplegia-Paget disease of bone syndrome skos:exactMatch UMLS:C4511969 semapv:UnspecifiedMatching MONDO:0018006 adult-onset distal myopathy due to VCP mutation skos:exactMatch MEDGEN:1660404 semapv:UnspecifiedMatching MONDO:0018006 adult-onset distal myopathy due to VCP mutation skos:exactMatch Orphanet:329478 Adult-onset distal myopathy due to VCP mutation semapv:UnspecifiedMatching MONDO:0018006 adult-onset distal myopathy due to VCP mutation skos:exactMatch UMLS:C4749506 semapv:UnspecifiedMatching MONDO:0018007 mosaic genome-wide paternal uniparental disomy skos:exactMatch MEDGEN:1679626 semapv:UnspecifiedMatching MONDO:0018007 mosaic genome-wide paternal uniparental disomy skos:exactMatch Orphanet:329813 Mosaic genome-wide paternal uniparental disomy syndrome semapv:UnspecifiedMatching MONDO:0018007 mosaic genome-wide paternal uniparental disomy skos:exactMatch UMLS:C5190828 semapv:UnspecifiedMatching MONDO:0018008 idiopathic giant cell myocarditis skos:exactMatch MEDGEN:82685 semapv:UnspecifiedMatching MONDO:0018008 idiopathic giant cell myocarditis skos:exactMatch Orphanet:329874 Idiopathic giant cell myocarditis semapv:UnspecifiedMatching MONDO:0018008 idiopathic giant cell myocarditis skos:exactMatch UMLS:C0264856 semapv:UnspecifiedMatching MONDO:0018009 non-hypoproteinemic hypertrophic gastropathy skos:exactMatch MEDGEN:1654450 semapv:UnspecifiedMatching MONDO:0018009 non-hypoproteinemic hypertrophic gastropathy skos:exactMatch Orphanet:329883 Non-hypoproteinemic hypertrophic gastropathy semapv:UnspecifiedMatching MONDO:0018009 non-hypoproteinemic hypertrophic gastropathy skos:exactMatch UMLS:C4750834 semapv:UnspecifiedMatching MONDO:0018010 juvenile idiopathic inflammatory myopathy skos:exactMatch MEDGEN:1842624 semapv:UnspecifiedMatching MONDO:0018010 juvenile idiopathic inflammatory myopathy skos:exactMatch Orphanet:329888 Juvenile idiopathic inflammatory myopathy semapv:UnspecifiedMatching MONDO:0018010 juvenile idiopathic inflammatory myopathy skos:exactMatch UMLS:C5679857 semapv:UnspecifiedMatching MONDO:0018011 juvenile overlap myositis skos:exactMatch MEDGEN:1634026 semapv:UnspecifiedMatching MONDO:0018011 juvenile overlap myositis skos:exactMatch Orphanet:329894 Juvenile overlap myositis semapv:UnspecifiedMatching MONDO:0018011 juvenile overlap myositis skos:exactMatch SCTID:766252004 semapv:UnspecifiedMatching MONDO:0018011 juvenile overlap myositis skos:exactMatch UMLS:C4707728 semapv:UnspecifiedMatching MONDO:0018013 complement 3 glomerulopathy skos:exactMatch MEDGEN:1672497 semapv:UnspecifiedMatching MONDO:0018013 complement 3 glomerulopathy skos:exactMatch Orphanet:329918 C3 glomerulopathy semapv:UnspecifiedMatching MONDO:0018013 complement 3 glomerulopathy skos:exactMatch UMLS:C4087273 semapv:UnspecifiedMatching MONDO:0018014 transient neonatal multiple acyl-CoA dehydrogenase deficiency skos:exactMatch MEDGEN:1373921 semapv:UnspecifiedMatching MONDO:0018014 transient neonatal multiple acyl-CoA dehydrogenase deficiency skos:exactMatch Orphanet:329942 Transient neonatal multiple acyl-CoA dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0018014 transient neonatal multiple acyl-CoA dehydrogenase deficiency skos:exactMatch SCTID:723552005 semapv:UnspecifiedMatching MONDO:0018014 transient neonatal multiple acyl-CoA dehydrogenase deficiency skos:exactMatch UMLS:C4509950 semapv:UnspecifiedMatching MONDO:0018015 intermittent hydrarthrosis skos:exactMatch ICD10CM:M12.4 Intermittent hydrarthrosis semapv:UnspecifiedMatching MONDO:0018015 intermittent hydrarthrosis skos:exactMatch MEDGEN:508453 semapv:UnspecifiedMatching MONDO:0018015 intermittent hydrarthrosis skos:exactMatch Orphanet:329967 Intermittent hydrarthrosis semapv:UnspecifiedMatching MONDO:0018015 intermittent hydrarthrosis skos:exactMatch SCTID:711286009 semapv:UnspecifiedMatching MONDO:0018015 intermittent hydrarthrosis skos:exactMatch UMLS:C0149910 semapv:UnspecifiedMatching MONDO:0018015 intermittent hydrarthrosis skos:exactMatch icd11.foundation:1855039383 Intermittent hydrarthrosis semapv:UnspecifiedMatching MONDO:0018016 classic neuroendocrine tumor of appendix skos:exactMatch MEDGEN:1843245 semapv:UnspecifiedMatching MONDO:0018016 classic neuroendocrine tumor of appendix skos:exactMatch Orphanet:329977 Classic neuroendocrine tumor of appendix semapv:UnspecifiedMatching MONDO:0018016 classic neuroendocrine tumor of appendix skos:exactMatch UMLS:C5679854 semapv:UnspecifiedMatching MONDO:0018017 goblet cell carcinoma skos:exactMatch MEDGEN:60007 semapv:UnspecifiedMatching MONDO:0018017 goblet cell carcinoma skos:exactMatch NCIT:C3689 Appendix Goblet Cell Adenocarcinoma semapv:UnspecifiedMatching MONDO:0018017 goblet cell carcinoma skos:exactMatch Orphanet:329984 Goblet cell carcinoma semapv:UnspecifiedMatching MONDO:0018017 goblet cell carcinoma skos:exactMatch UMLS:C0205695 semapv:UnspecifiedMatching MONDO:0018018 wild type ATTR amyloidosis skos:exactMatch DOID:0080937 wild-type amyloidosis semapv:UnspecifiedMatching MONDO:0018018 wild type ATTR amyloidosis skos:exactMatch ICD10CM:E85.82 Wild-type transthyretin-related (ATTR) amyloidosis semapv:UnspecifiedMatching MONDO:0018018 wild type ATTR amyloidosis skos:exactMatch MEDGEN:87446 semapv:UnspecifiedMatching MONDO:0018018 wild type ATTR amyloidosis skos:exactMatch Orphanet:330001 Wild type ATTR amyloidosis semapv:UnspecifiedMatching MONDO:0018018 wild type ATTR amyloidosis skos:exactMatch SCTID:237877004 semapv:UnspecifiedMatching MONDO:0018018 wild type ATTR amyloidosis skos:exactMatch UMLS:C0342623 semapv:UnspecifiedMatching MONDO:0018018 wild type ATTR amyloidosis skos:exactMatch icd11.foundation:25699053 Wild type transthyretin-related amyloid cardiomyopathy semapv:UnspecifiedMatching MONDO:0018019 lead poisoning skos:exactMatch Orphanet:330015 Lead poisoning semapv:UnspecifiedMatching MONDO:0018019 lead poisoning skos:exactMatch SCTID:38342005 semapv:UnspecifiedMatching MONDO:0018019 lead poisoning skos:exactMatch mesh:D007855 semapv:UnspecifiedMatching MONDO:0018020 mercury poisoning skos:exactMatch EFO:1001810 semapv:UnspecifiedMatching MONDO:0018020 mercury poisoning skos:exactMatch Orphanet:330021 Mercury poisoning semapv:UnspecifiedMatching MONDO:0018020 mercury poisoning skos:exactMatch SCTID:85180002 semapv:UnspecifiedMatching MONDO:0018020 mercury poisoning skos:exactMatch mesh:D008630 semapv:UnspecifiedMatching MONDO:0018021 hypotrichosis-deafness syndrome skos:exactMatch MEDGEN:1679303 semapv:UnspecifiedMatching MONDO:0018021 hypotrichosis-deafness syndrome skos:exactMatch Orphanet:330029 Hypotrichosis-deafness syndrome semapv:UnspecifiedMatching MONDO:0018021 hypotrichosis-deafness syndrome skos:exactMatch UMLS:C5190988 semapv:UnspecifiedMatching MONDO:0018022 hemoglobin Lepore-beta-thalassemia syndrome skos:exactMatch MEDGEN:1826060 semapv:UnspecifiedMatching MONDO:0018022 hemoglobin Lepore-beta-thalassemia syndrome skos:exactMatch Orphanet:330032 Hemoglobin Lepore-beta-thalassemia syndrome semapv:UnspecifiedMatching MONDO:0018022 hemoglobin Lepore-beta-thalassemia syndrome skos:exactMatch UMLS:C5679855 semapv:UnspecifiedMatching MONDO:0018023 hemoglobin M disease skos:exactMatch MEDGEN:777099 semapv:UnspecifiedMatching MONDO:0018023 hemoglobin M disease skos:exactMatch OMIM:617971 methemoglobinemia, beta type semapv:UnspecifiedMatching MONDO:0018023 hemoglobin M disease skos:exactMatch Orphanet:330041 Hemoglobin M disease semapv:UnspecifiedMatching MONDO:0018023 hemoglobin M disease skos:exactMatch SCTID:74912001 semapv:UnspecifiedMatching MONDO:0018023 hemoglobin M disease skos:exactMatch UMLS:C3665425 semapv:UnspecifiedMatching MONDO:0018023 hemoglobin M disease skos:exactMatch mesh:C581942 semapv:UnspecifiedMatching MONDO:0018024 hydroa vacciniforme skos:exactMatch MEDGEN:5661 semapv:UnspecifiedMatching MONDO:0018024 hydroa vacciniforme skos:exactMatch NCIT:C84766 Hydroa Vacciniforme semapv:UnspecifiedMatching MONDO:0018024 hydroa vacciniforme skos:exactMatch Orphanet:330058 Hydroa vacciniforme semapv:UnspecifiedMatching MONDO:0018024 hydroa vacciniforme skos:exactMatch SCTID:200837006 semapv:UnspecifiedMatching MONDO:0018024 hydroa vacciniforme skos:exactMatch UMLS:C0020241 semapv:UnspecifiedMatching MONDO:0018024 hydroa vacciniforme skos:exactMatch icd11.foundation:2053786485 Hydroa vacciniforme semapv:UnspecifiedMatching MONDO:0018024 hydroa vacciniforme skos:exactMatch mesh:D006837 semapv:UnspecifiedMatching MONDO:0018025 chronic actinic dermatitis skos:exactMatch ICD10CM:L57.1 Actinic reticuloid semapv:UnspecifiedMatching MONDO:0018025 chronic actinic dermatitis skos:exactMatch MEDGEN:76406 semapv:UnspecifiedMatching MONDO:0018025 chronic actinic dermatitis skos:exactMatch Orphanet:330064 Chronic actinic dermatitis semapv:UnspecifiedMatching MONDO:0018025 chronic actinic dermatitis skos:exactMatch SCTID:52636001 semapv:UnspecifiedMatching MONDO:0018025 chronic actinic dermatitis skos:exactMatch UMLS:C0282309 semapv:UnspecifiedMatching MONDO:0018025 chronic actinic dermatitis skos:exactMatch icd11.foundation:248339081 Chronic actinic dermatitis semapv:UnspecifiedMatching MONDO:0018026 tetraploidy syndrome skos:exactMatch MEDGEN:163193 semapv:UnspecifiedMatching MONDO:0018026 tetraploidy syndrome skos:exactMatch Orphanet:3305 Tetraploidy syndrome semapv:UnspecifiedMatching MONDO:0018026 tetraploidy syndrome skos:exactMatch SCTID:726363000 semapv:UnspecifiedMatching MONDO:0018026 tetraploidy syndrome skos:exactMatch UMLS:C0795884 semapv:UnspecifiedMatching MONDO:0018026 tetraploidy syndrome skos:exactMatch icd11.foundation:1705084192 Tetraploidy semapv:UnspecifiedMatching MONDO:0018026 tetraploidy syndrome skos:exactMatch mesh:D057891 semapv:UnspecifiedMatching MONDO:0018027 duplication/inversion 15q11 skos:exactMatch MEDGEN:777984 semapv:UnspecifiedMatching MONDO:0018027 duplication/inversion 15q11 skos:exactMatch Orphanet:3306 Inverted duplicated chromosome 15 syndrome semapv:UnspecifiedMatching MONDO:0018027 duplication/inversion 15q11 skos:exactMatch SCTID:723332005 semapv:UnspecifiedMatching MONDO:0018027 duplication/inversion 15q11 skos:exactMatch UMLS:C3711376 semapv:UnspecifiedMatching MONDO:0018027 duplication/inversion 15q11 skos:exactMatch mesh:C580205 semapv:UnspecifiedMatching MONDO:0018028 tetrasomy 5p skos:exactMatch MEDGEN:1638801 semapv:UnspecifiedMatching MONDO:0018028 tetrasomy 5p skos:exactMatch Orphanet:3309 Tetrasomy 5p syndrome semapv:UnspecifiedMatching MONDO:0018028 tetrasomy 5p skos:exactMatch SCTID:766755003 semapv:UnspecifiedMatching MONDO:0018028 tetrasomy 5p skos:exactMatch UMLS:C0795813 semapv:UnspecifiedMatching MONDO:0018029 congenital factor XIII deficiency skos:exactMatch DOID:2211 factor XIII deficiency semapv:UnspecifiedMatching MONDO:0018029 congenital factor XIII deficiency skos:exactMatch MEDGEN:4639 semapv:UnspecifiedMatching MONDO:0018029 congenital factor XIII deficiency skos:exactMatch NCIT:C131633 Factor XIII Deficiency semapv:UnspecifiedMatching MONDO:0018029 congenital factor XIII deficiency skos:exactMatch Orphanet:331 Congenital factor XIII deficiency semapv:UnspecifiedMatching MONDO:0018029 congenital factor XIII deficiency skos:exactMatch SCTID:50189006 semapv:UnspecifiedMatching MONDO:0018029 congenital factor XIII deficiency skos:exactMatch UMLS:C0015530 semapv:UnspecifiedMatching MONDO:0018030 tetrasomy 9p skos:exactMatch MEDGEN:162876 semapv:UnspecifiedMatching MONDO:0018030 tetrasomy 9p skos:exactMatch Orphanet:3310 Tetrasomy 9p syndrome semapv:UnspecifiedMatching MONDO:0018030 tetrasomy 9p skos:exactMatch SCTID:715530004 semapv:UnspecifiedMatching MONDO:0018030 tetrasomy 9p skos:exactMatch UMLS:C0795832 semapv:UnspecifiedMatching MONDO:0018030 tetrasomy 9p skos:exactMatch icd11.foundation:1426428869 Tetrasomy 9p semapv:UnspecifiedMatching MONDO:0018030 tetrasomy 9p skos:exactMatch mesh:C538027 semapv:UnspecifiedMatching MONDO:0018031 granulomatous slack skin disease skos:exactMatch MEDGEN:99139 semapv:UnspecifiedMatching MONDO:0018031 granulomatous slack skin disease skos:exactMatch NCIT:C35464 Granulomatous Slack Skin Disease semapv:UnspecifiedMatching MONDO:0018031 granulomatous slack skin disease skos:exactMatch Orphanet:33111 Granulomatous slack skin semapv:UnspecifiedMatching MONDO:0018031 granulomatous slack skin disease skos:exactMatch SCTID:277796003 semapv:UnspecifiedMatching MONDO:0018031 granulomatous slack skin disease skos:exactMatch UMLS:C0457002 semapv:UnspecifiedMatching MONDO:0018032 obsolete constitutional neutropenia with extra-hematopoietic manifestations skos:exactMatch Orphanet:331184 Syndrome with congenital neutropenia as a major feature semapv:UnspecifiedMatching MONDO:0018033 obsolete other immunodeficiency syndromes due to defects in innate immunity skos:exactMatch Orphanet:331193 Other immunodeficiency syndromes due to defects in innate immunity semapv:UnspecifiedMatching MONDO:0018034 thalidomide embryopathy skos:exactMatch MEDGEN:98490 semapv:UnspecifiedMatching MONDO:0018034 thalidomide embryopathy skos:exactMatch NCIT:C99082 Thalidomide Embryopathy Syndrome semapv:UnspecifiedMatching MONDO:0018034 thalidomide embryopathy skos:exactMatch Orphanet:3312 Thalidomide embryopathy semapv:UnspecifiedMatching MONDO:0018034 thalidomide embryopathy skos:exactMatch SCTID:36193003 semapv:UnspecifiedMatching MONDO:0018034 thalidomide embryopathy skos:exactMatch UMLS:C0432365 semapv:UnspecifiedMatching MONDO:0018034 thalidomide embryopathy skos:exactMatch icd11.foundation:299085643 Thalidomide embryopathy semapv:UnspecifiedMatching MONDO:0018035 obsolete syndrome with combined immunodeficiency skos:exactMatch Orphanet:331217 Syndrome with combined immunodeficiency semapv:UnspecifiedMatching MONDO:0018036 obsolete immunodeficiency due to absence of thymus skos:exactMatch Orphanet:331220 Syndome with combined immunodeficiency due to thymic defect semapv:UnspecifiedMatching MONDO:0018037 hyper-IgE syndrome skos:exactMatch DOID:0080545 hyper IgE syndrome semapv:UnspecifiedMatching MONDO:0018037 hyper-IgE syndrome skos:exactMatch MEDGEN:854488 semapv:UnspecifiedMatching MONDO:0018037 hyper-IgE syndrome skos:exactMatch NCIT:C3144 Hyperimmunoglobulin E Syndrome semapv:UnspecifiedMatching MONDO:0018037 hyper-IgE syndrome skos:exactMatch OMIMPS:147060 Hyper-IgE recurrent infection syndrome semapv:UnspecifiedMatching MONDO:0018037 hyper-IgE syndrome skos:exactMatch Orphanet:331223 Hyper-IgE syndrome semapv:UnspecifiedMatching MONDO:0018037 hyper-IgE syndrome skos:exactMatch UMLS:C3887645 semapv:UnspecifiedMatching MONDO:0018037 hyper-IgE syndrome skos:exactMatch icd11.foundation:223461798 Hyperimmunoglobulin E syndromes semapv:UnspecifiedMatching MONDO:0018038 obsolete immunodeficiency with isotype or light chain deficiencies with normal number of B-cells skos:exactMatch Orphanet:331232 Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells semapv:UnspecifiedMatching MONDO:0018039 selective IgM deficiency skos:exactMatch DOID:0050222 selective IgM deficiency disease semapv:UnspecifiedMatching MONDO:0018039 selective IgM deficiency skos:exactMatch MEDGEN:57820 semapv:UnspecifiedMatching MONDO:0018039 selective IgM deficiency skos:exactMatch Orphanet:331235 Selective IgM deficiency semapv:UnspecifiedMatching MONDO:0018039 selective IgM deficiency skos:exactMatch SCTID:190980000 semapv:UnspecifiedMatching MONDO:0018039 selective IgM deficiency skos:exactMatch UMLS:C0154275 semapv:UnspecifiedMatching MONDO:0018040 obsolete immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells skos:exactMatch Orphanet:331240 Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells semapv:UnspecifiedMatching MONDO:0018040 obsolete immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells skos:exactMatch icd11.foundation:769068598 Immunodeficiencies with severe reduction in serum IgG or IgA with normal or elevated IgM and normal numbers of B-cells semapv:UnspecifiedMatching MONDO:0018041 obsolete other immunodeficiency syndrome with predominantly antibody defects skos:exactMatch Orphanet:331244 Other immunodeficiency syndrome with predominantly antibody defects semapv:UnspecifiedMatching MONDO:0018042 obsolete immunodeficiency syndrome with abnormal pigmentation skos:exactMatch Orphanet:331249 Primary hemophagocytic lymphohistiocytosis with hypopigmentation semapv:UnspecifiedMatching MONDO:0018042 obsolete immunodeficiency syndrome with abnormal pigmentation skos:exactMatch icd11.foundation:2015243510 Immune dysregulation syndromes with hypopigmentation semapv:UnspecifiedMatching MONDO:0018043 Thomas syndrome skos:exactMatch MEDGEN:419362 semapv:UnspecifiedMatching MONDO:0018043 Thomas syndrome skos:exactMatch Orphanet:3316 Thomas syndrome semapv:UnspecifiedMatching MONDO:0018043 Thomas syndrome skos:exactMatch SCTID:716740009 semapv:UnspecifiedMatching MONDO:0018043 Thomas syndrome skos:exactMatch UMLS:C2931225 semapv:UnspecifiedMatching MONDO:0018043 Thomas syndrome skos:exactMatch mesh:C536514 semapv:UnspecifiedMatching MONDO:0018044 idiopathic hypersomnia skos:exactMatch ICD10CM:F51.11 Primary hypersomnia semapv:UnspecifiedMatching MONDO:0018044 idiopathic hypersomnia skos:exactMatch MEDGEN:155626 semapv:UnspecifiedMatching MONDO:0018044 idiopathic hypersomnia skos:exactMatch NCIT:C116343 Idiopathic Hypersomnia semapv:UnspecifiedMatching MONDO:0018044 idiopathic hypersomnia skos:exactMatch Orphanet:33208 Idiopathic hypersomnia semapv:UnspecifiedMatching MONDO:0018044 idiopathic hypersomnia skos:exactMatch SCTID:3731000119107 semapv:UnspecifiedMatching MONDO:0018044 idiopathic hypersomnia skos:exactMatch UMLS:C0751757 semapv:UnspecifiedMatching MONDO:0018044 idiopathic hypersomnia skos:exactMatch icd11.foundation:631826564 Idiopathic hypersomnia semapv:UnspecifiedMatching MONDO:0018044 idiopathic hypersomnia skos:exactMatch mesh:D020177 semapv:UnspecifiedMatching MONDO:0018045 Hoyeraal-Hreidarsson syndrome skos:exactMatch MEDGEN:337518 semapv:UnspecifiedMatching MONDO:0018045 Hoyeraal-Hreidarsson syndrome skos:exactMatch Orphanet:3322 Hoyeraal-Hreidarsson syndrome semapv:UnspecifiedMatching MONDO:0018045 Hoyeraal-Hreidarsson syndrome skos:exactMatch SCTID:707276009 semapv:UnspecifiedMatching MONDO:0018045 Hoyeraal-Hreidarsson syndrome skos:exactMatch UMLS:C1846142 semapv:UnspecifiedMatching MONDO:0018045 Hoyeraal-Hreidarsson syndrome skos:exactMatch icd11.foundation:340127408 Hoyeraal-Hreidarsson syndrome semapv:UnspecifiedMatching MONDO:0018045 Hoyeraal-Hreidarsson syndrome skos:exactMatch mesh:C536068 semapv:UnspecifiedMatching MONDO:0018046 thrombocytopenia-Robin sequence syndrome skos:exactMatch MEDGEN:419058 semapv:UnspecifiedMatching MONDO:0018046 thrombocytopenia-Robin sequence syndrome skos:exactMatch UMLS:C2931364 semapv:UnspecifiedMatching MONDO:0018046 thrombocytopenia-Robin sequence syndrome skos:exactMatch mesh:C536898 semapv:UnspecifiedMatching MONDO:0018047 familial thrombomodulin anomalies skos:exactMatch MEDGEN:419059 semapv:UnspecifiedMatching MONDO:0018047 familial thrombomodulin anomalies skos:exactMatch Orphanet:3324 Familial thrombomodulin anomalies semapv:UnspecifiedMatching MONDO:0018047 familial thrombomodulin anomalies skos:exactMatch UMLS:C2931365 semapv:UnspecifiedMatching MONDO:0018047 familial thrombomodulin anomalies skos:exactMatch mesh:C536900 semapv:UnspecifiedMatching MONDO:0018048 heparin-induced thrombocytopenia skos:exactMatch MEDGEN:124423 semapv:UnspecifiedMatching MONDO:0018048 heparin-induced thrombocytopenia skos:exactMatch Orphanet:3325 Classic heparin-induced thrombocytopenia semapv:UnspecifiedMatching MONDO:0018048 heparin-induced thrombocytopenia skos:exactMatch SCTID:73397007 semapv:UnspecifiedMatching MONDO:0018048 heparin-induced thrombocytopenia skos:exactMatch UMLS:C0272285 semapv:UnspecifiedMatching MONDO:0018048 heparin-induced thrombocytopenia skos:exactMatch icd11.foundation:1143142333 Heparin-induced thrombocytopenia semapv:UnspecifiedMatching MONDO:0018050 tibial aplasia-ectrodactyly syndrome skos:exactMatch MEDGEN:1639878 semapv:UnspecifiedMatching MONDO:0018050 tibial aplasia-ectrodactyly syndrome skos:exactMatch Orphanet:3329 Tibial aplasia-ectrodactyly syndrome semapv:UnspecifiedMatching MONDO:0018050 tibial aplasia-ectrodactyly syndrome skos:exactMatch UMLS:C4551989 semapv:UnspecifiedMatching MONDO:0018051 Jessner lymphocytic infiltration of the skin skos:exactMatch MEDGEN:663150 semapv:UnspecifiedMatching MONDO:0018051 Jessner lymphocytic infiltration of the skin skos:exactMatch Orphanet:33314 Jessner lymphocytic infiltration of the skin semapv:UnspecifiedMatching MONDO:0018051 Jessner lymphocytic infiltration of the skin skos:exactMatch UMLS:C0580181 semapv:UnspecifiedMatching MONDO:0018051 Jessner lymphocytic infiltration of the skin skos:exactMatch icd11.foundation:1624135677 Benign lymphocytic infiltration of the skin semapv:UnspecifiedMatching MONDO:0018053 trichothiodystrophy skos:exactMatch DOID:0111866 trichothiodystrophy semapv:UnspecifiedMatching MONDO:0018053 trichothiodystrophy skos:exactMatch MEDGEN:363064 semapv:UnspecifiedMatching MONDO:0018053 trichothiodystrophy skos:exactMatch NCIT:C4924 Trichothiodystrophy semapv:UnspecifiedMatching MONDO:0018053 trichothiodystrophy skos:exactMatch OMIMPS:601675 Trichothiodystrophy semapv:UnspecifiedMatching MONDO:0018053 trichothiodystrophy skos:exactMatch Orphanet:33364 Trichothiodystrophy semapv:UnspecifiedMatching MONDO:0018053 trichothiodystrophy skos:exactMatch SCTID:723551003 semapv:UnspecifiedMatching MONDO:0018053 trichothiodystrophy skos:exactMatch UMLS:C1955934 semapv:UnspecifiedMatching MONDO:0018053 trichothiodystrophy skos:exactMatch icd11.foundation:1366758649 Trichothiodystrophy semapv:UnspecifiedMatching MONDO:0018054 familial atrial fibrillation skos:exactMatch DOID:0050650 familial atrial fibrillation semapv:UnspecifiedMatching MONDO:0018054 familial atrial fibrillation skos:exactMatch MEDGEN:894635 semapv:UnspecifiedMatching MONDO:0018054 familial atrial fibrillation skos:exactMatch OMIMPS:608583 Atrial fibrillation, familial semapv:UnspecifiedMatching MONDO:0018054 familial atrial fibrillation skos:exactMatch Orphanet:334 Hereditary atrial fibrillation semapv:UnspecifiedMatching MONDO:0018054 familial atrial fibrillation skos:exactMatch SCTID:715395008 semapv:UnspecifiedMatching MONDO:0018054 familial atrial fibrillation skos:exactMatch UMLS:C3468561 semapv:UnspecifiedMatching MONDO:0018054 familial atrial fibrillation skos:exactMatch icd11.foundation:45855978 Familial atrial fibrillation semapv:UnspecifiedMatching MONDO:0018055 pediatric hepatocellular carcinoma skos:exactMatch DOID:0070322 childhood hepatocellular carcinoma semapv:UnspecifiedMatching MONDO:0018055 pediatric hepatocellular carcinoma skos:exactMatch MEDGEN:75999 semapv:UnspecifiedMatching MONDO:0018055 pediatric hepatocellular carcinoma skos:exactMatch NCIT:C7955 Childhood Hepatocellular Carcinoma semapv:UnspecifiedMatching MONDO:0018055 pediatric hepatocellular carcinoma skos:exactMatch Orphanet:33402 Pediatric hepatocellular carcinoma semapv:UnspecifiedMatching MONDO:0018055 pediatric hepatocellular carcinoma skos:exactMatch UMLS:C0279606 semapv:UnspecifiedMatching MONDO:0018056 bullous lichen planus skos:exactMatch ICD10CM:L43.1 Bullous lichen planus semapv:UnspecifiedMatching MONDO:0018056 bullous lichen planus skos:exactMatch MEDGEN:9755 semapv:UnspecifiedMatching MONDO:0018056 bullous lichen planus skos:exactMatch NCIT:C34778 Bullous Lichen Planus semapv:UnspecifiedMatching MONDO:0018056 bullous lichen planus skos:exactMatch Orphanet:33408 Bullous lichen planus semapv:UnspecifiedMatching MONDO:0018056 bullous lichen planus skos:exactMatch SCTID:6111009 semapv:UnspecifiedMatching MONDO:0018056 bullous lichen planus skos:exactMatch UMLS:C0023648 semapv:UnspecifiedMatching MONDO:0018056 bullous lichen planus skos:exactMatch icd11.foundation:606709958 Bullous lichen planus semapv:UnspecifiedMatching MONDO:0018058 tracheal agenesis skos:exactMatch MEDGEN:266059 semapv:UnspecifiedMatching MONDO:0018058 tracheal agenesis skos:exactMatch NCIT:C35376 Tracheal Agenesis semapv:UnspecifiedMatching MONDO:0018058 tracheal agenesis skos:exactMatch Orphanet:3346 Tracheal agenesis semapv:UnspecifiedMatching MONDO:0018058 tracheal agenesis skos:exactMatch SCTID:3987009 semapv:UnspecifiedMatching MONDO:0018058 tracheal agenesis skos:exactMatch UMLS:C1261567 semapv:UnspecifiedMatching MONDO:0018058 tracheal agenesis skos:exactMatch mesh:C536975 semapv:UnspecifiedMatching MONDO:0018059 meningococcal meningitis skos:exactMatch DOID:0080176 meningococcal meningitis semapv:UnspecifiedMatching MONDO:0018059 meningococcal meningitis skos:exactMatch EFO:1001040 semapv:UnspecifiedMatching MONDO:0018059 meningococcal meningitis skos:exactMatch ICD10CM:A39.0 Meningococcal meningitis semapv:UnspecifiedMatching MONDO:0018059 meningococcal meningitis skos:exactMatch MEDGEN:6299 semapv:UnspecifiedMatching MONDO:0018059 meningococcal meningitis skos:exactMatch Orphanet:33475 Meningococcal meningitis semapv:UnspecifiedMatching MONDO:0018059 meningococcal meningitis skos:exactMatch SCTID:192644005 semapv:UnspecifiedMatching MONDO:0018059 meningococcal meningitis skos:exactMatch UMLS:C0025294 semapv:UnspecifiedMatching MONDO:0018059 meningococcal meningitis skos:exactMatch icd11.foundation:516585689 Meningococcal meningitis semapv:UnspecifiedMatching MONDO:0018059 meningococcal meningitis skos:exactMatch mesh:D008585 semapv:UnspecifiedMatching MONDO:0018060 congenital fibrinogen deficiency skos:exactMatch MEDGEN:9230 semapv:UnspecifiedMatching MONDO:0018060 congenital fibrinogen deficiency skos:exactMatch Orphanet:335 Congenital fibrinogen deficiency semapv:UnspecifiedMatching MONDO:0018060 congenital fibrinogen deficiency skos:exactMatch UMLS:C0019250 semapv:UnspecifiedMatching MONDO:0018060 congenital fibrinogen deficiency skos:exactMatch icd11.foundation:1452989457 Hereditary deficiency of factor I semapv:UnspecifiedMatching MONDO:0018061 trichodermodysplasia-dental alterations syndrome skos:exactMatch MEDGEN:419092 semapv:UnspecifiedMatching MONDO:0018061 trichodermodysplasia-dental alterations syndrome skos:exactMatch Orphanet:3353 Trichodermodysplasia-dental alterations syndrome semapv:UnspecifiedMatching MONDO:0018061 trichodermodysplasia-dental alterations syndrome skos:exactMatch UMLS:C2931485 semapv:UnspecifiedMatching MONDO:0018061 trichodermodysplasia-dental alterations syndrome skos:exactMatch mesh:C537402 semapv:UnspecifiedMatching MONDO:0018062 autosomal dominant trichoodontoonychodysplasia-syndactyly skos:exactMatch MEDGEN:419366 semapv:UnspecifiedMatching MONDO:0018062 autosomal dominant trichoodontoonychodysplasia-syndactyly skos:exactMatch UMLS:C2931239 semapv:UnspecifiedMatching MONDO:0018062 autosomal dominant trichoodontoonychodysplasia-syndactyly skos:exactMatch mesh:C536565 semapv:UnspecifiedMatching MONDO:0018063 nodular non-suppurative panniculitis skos:exactMatch DOID:1525 nodular nonsuppurative panniculitis semapv:UnspecifiedMatching MONDO:0018063 nodular non-suppurative panniculitis skos:exactMatch EFO:1000742 semapv:UnspecifiedMatching MONDO:0018063 nodular non-suppurative panniculitis skos:exactMatch MEDGEN:10559 semapv:UnspecifiedMatching MONDO:0018063 nodular non-suppurative panniculitis skos:exactMatch Orphanet:33577 Nodular non-suppurative panniculitis semapv:UnspecifiedMatching MONDO:0018063 nodular non-suppurative panniculitis skos:exactMatch SCTID:33760009 semapv:UnspecifiedMatching MONDO:0018063 nodular non-suppurative panniculitis skos:exactMatch UMLS:C0030328 semapv:UnspecifiedMatching MONDO:0018063 nodular non-suppurative panniculitis skos:exactMatch mesh:D010201 semapv:UnspecifiedMatching MONDO:0018064 trigonocephaly-broad thumbs syndrome skos:exactMatch MEDGEN:930637 semapv:UnspecifiedMatching MONDO:0018064 trigonocephaly-broad thumbs syndrome skos:exactMatch Orphanet:3365 Trigonocephaly-broad thumbs syndrome semapv:UnspecifiedMatching MONDO:0018064 trigonocephaly-broad thumbs syndrome skos:exactMatch SCTID:719949001 semapv:UnspecifiedMatching MONDO:0018064 trigonocephaly-broad thumbs syndrome skos:exactMatch UMLS:C4304968 semapv:UnspecifiedMatching MONDO:0018065 isolated trigonocephaly skos:exactMatch MEDGEN:1812049 semapv:UnspecifiedMatching MONDO:0018065 isolated trigonocephaly skos:exactMatch OMIMPS:190440 Trigonocephaly, isolated semapv:UnspecifiedMatching MONDO:0018065 isolated trigonocephaly skos:exactMatch Orphanet:3366 Non-syndromic metopic craniosynostosis semapv:UnspecifiedMatching MONDO:0018065 isolated trigonocephaly skos:exactMatch UMLS:C5575700 semapv:UnspecifiedMatching MONDO:0018066 trisomy X skos:exactMatch MEDGEN:113140 semapv:UnspecifiedMatching MONDO:0018066 trisomy X skos:exactMatch NCIT:C129718 47,XXX Syndrome semapv:UnspecifiedMatching MONDO:0018066 trisomy X skos:exactMatch Orphanet:3375 Trisomy X syndrome semapv:UnspecifiedMatching MONDO:0018066 trisomy X skos:exactMatch SCTID:35111009 semapv:UnspecifiedMatching MONDO:0018066 trisomy X skos:exactMatch UMLS:C0221033 semapv:UnspecifiedMatching MONDO:0018066 trisomy X skos:exactMatch icd11.foundation:423644907 Karyotype 47,XXX semapv:UnspecifiedMatching MONDO:0018066 trisomy X skos:exactMatch mesh:C535318 semapv:UnspecifiedMatching MONDO:0018067 triploidy skos:exactMatch MEDGEN:90711 semapv:UnspecifiedMatching MONDO:0018067 triploidy skos:exactMatch NCIT:C85204 Triploidy Syndrome semapv:UnspecifiedMatching MONDO:0018067 triploidy skos:exactMatch Orphanet:3376 Triploidy syndrome semapv:UnspecifiedMatching MONDO:0018067 triploidy skos:exactMatch SCTID:66651005 semapv:UnspecifiedMatching MONDO:0018067 triploidy skos:exactMatch UMLS:C0333693 semapv:UnspecifiedMatching MONDO:0018067 triploidy skos:exactMatch icd11.foundation:1900317965 Triploidy semapv:UnspecifiedMatching MONDO:0018067 triploidy skos:exactMatch mesh:D057885 semapv:UnspecifiedMatching MONDO:0018068 trisomy 13 skos:exactMatch DOID:11665 Patau syndrome semapv:UnspecifiedMatching MONDO:0018068 trisomy 13 skos:exactMatch MEDGEN:56261 semapv:UnspecifiedMatching MONDO:0018068 trisomy 13 skos:exactMatch NCIT:C101223 Complete Trisomy 13 Syndrome semapv:UnspecifiedMatching MONDO:0018068 trisomy 13 skos:exactMatch Orphanet:3378 Trisomy 13 syndrome semapv:UnspecifiedMatching MONDO:0018068 trisomy 13 skos:exactMatch SCTID:21111006 semapv:UnspecifiedMatching MONDO:0018068 trisomy 13 skos:exactMatch UMLS:C0152095 semapv:UnspecifiedMatching MONDO:0018068 trisomy 13 skos:exactMatch icd11.foundation:1435958084 Complete trisomy 13 semapv:UnspecifiedMatching MONDO:0018068 trisomy 13 skos:exactMatch mesh:C536305 semapv:UnspecifiedMatching MONDO:0018069 distal trisomy 17q skos:exactMatch MEDGEN:1635674 semapv:UnspecifiedMatching MONDO:0018069 distal trisomy 17q skos:exactMatch Orphanet:3379 Distal duplication 17q syndrome semapv:UnspecifiedMatching MONDO:0018069 distal trisomy 17q skos:exactMatch SCTID:766051001 semapv:UnspecifiedMatching MONDO:0018069 distal trisomy 17q skos:exactMatch UMLS:C4707663 semapv:UnspecifiedMatching MONDO:0018070 familial multiple fibrofolliculoma skos:exactMatch SCTID:723361006 semapv:UnspecifiedMatching MONDO:0018071 trisomy 18 skos:exactMatch DOID:1085 Edwards syndrome semapv:UnspecifiedMatching MONDO:0018071 trisomy 18 skos:exactMatch MEDGEN:1384417 semapv:UnspecifiedMatching MONDO:0018071 trisomy 18 skos:exactMatch Orphanet:3380 Trisomy 18 syndrome semapv:UnspecifiedMatching MONDO:0018071 trisomy 18 skos:exactMatch SCTID:51500006 semapv:UnspecifiedMatching MONDO:0018071 trisomy 18 skos:exactMatch UMLS:C4317091 semapv:UnspecifiedMatching MONDO:0018071 trisomy 18 skos:exactMatch icd11.foundation:1505179968 Complete trisomy 18 semapv:UnspecifiedMatching MONDO:0018071 trisomy 18 skos:exactMatch mesh:C580500 semapv:UnspecifiedMatching MONDO:0018072 persistent truncus arteriosus skos:exactMatch ICD10CM:Q20.0 Common arterial trunk semapv:UnspecifiedMatching MONDO:0018072 persistent truncus arteriosus skos:exactMatch MEDGEN:52867 semapv:UnspecifiedMatching MONDO:0018072 persistent truncus arteriosus skos:exactMatch NCIT:C98880 Persistent Truncus Arteriosus semapv:UnspecifiedMatching MONDO:0018072 persistent truncus arteriosus skos:exactMatch Orphanet:3384 Common arterial trunk semapv:UnspecifiedMatching MONDO:0018072 persistent truncus arteriosus skos:exactMatch UMLS:C0041207 semapv:UnspecifiedMatching MONDO:0018072 persistent truncus arteriosus skos:exactMatch icd11.foundation:1832500366 Common arterial trunk semapv:UnspecifiedMatching MONDO:0018072 persistent truncus arteriosus skos:exactMatch mesh:D014339 semapv:UnspecifiedMatching MONDO:0018075 neural tube defect skos:exactMatch DOID:0080074 neural tube defect semapv:UnspecifiedMatching MONDO:0018075 neural tube defect skos:exactMatch MEDGEN:18009 semapv:UnspecifiedMatching MONDO:0018075 neural tube defect skos:exactMatch NCIT:C84923 Neural Tube Defect semapv:UnspecifiedMatching MONDO:0018075 neural tube defect skos:exactMatch Orphanet:3388 Neural tube defect semapv:UnspecifiedMatching MONDO:0018075 neural tube defect skos:exactMatch SCTID:253098009 semapv:UnspecifiedMatching MONDO:0018075 neural tube defect skos:exactMatch UMLS:C0027794 semapv:UnspecifiedMatching MONDO:0018075 neural tube defect skos:exactMatch mesh:D009436 semapv:UnspecifiedMatching MONDO:0018076 tuberculosis skos:exactMatch DOID:399 tuberculosis semapv:UnspecifiedMatching MONDO:0018076 tuberculosis skos:exactMatch ICD10CM:A15-A19 Tuberculosis (A15-A19) semapv:UnspecifiedMatching MONDO:0018076 tuberculosis skos:exactMatch ICD10WHO:A15-A19 Tuberculosis semapv:UnspecifiedMatching MONDO:0018076 tuberculosis skos:exactMatch MEDGEN:22513 semapv:UnspecifiedMatching MONDO:0018076 tuberculosis skos:exactMatch NCIT:C3423 Tuberculosis semapv:UnspecifiedMatching MONDO:0018076 tuberculosis skos:exactMatch Orphanet:3389 Tuberculosis semapv:UnspecifiedMatching MONDO:0018076 tuberculosis skos:exactMatch SCTID:56717001 semapv:UnspecifiedMatching MONDO:0018076 tuberculosis skos:exactMatch UMLS:C0041296 semapv:UnspecifiedMatching MONDO:0018076 tuberculosis skos:exactMatch icd11.foundation:2072728114 Tuberculosis semapv:UnspecifiedMatching MONDO:0018076 tuberculosis skos:exactMatch mesh:D014376 semapv:UnspecifiedMatching MONDO:0018077 tularemia skos:exactMatch DOID:2123 tularemia semapv:UnspecifiedMatching MONDO:0018077 tularemia skos:exactMatch EFO:1001444 semapv:UnspecifiedMatching MONDO:0018077 tularemia skos:exactMatch ICD10CM:A21 Tularemia semapv:UnspecifiedMatching MONDO:0018077 tularemia skos:exactMatch MEDGEN:22520 semapv:UnspecifiedMatching MONDO:0018077 tularemia skos:exactMatch NCIT:C85208 Tularemia semapv:UnspecifiedMatching MONDO:0018077 tularemia skos:exactMatch Orphanet:3392 Tularemia semapv:UnspecifiedMatching MONDO:0018077 tularemia skos:exactMatch SCTID:19265001 semapv:UnspecifiedMatching MONDO:0018077 tularemia skos:exactMatch UMLS:C0041351 semapv:UnspecifiedMatching MONDO:0018077 tularemia skos:exactMatch mesh:D014406 semapv:UnspecifiedMatching MONDO:0018078 soft tissue sarcoma skos:exactMatch DOID:0070663 soft tissue sarcoma semapv:UnspecifiedMatching MONDO:0018078 soft tissue sarcoma skos:exactMatch EFO:1001968 semapv:UnspecifiedMatching MONDO:0018078 soft tissue sarcoma skos:exactMatch MEDGEN:1642116 semapv:UnspecifiedMatching MONDO:0018078 soft tissue sarcoma skos:exactMatch NCIT:C9306 Soft Tissue Sarcoma semapv:UnspecifiedMatching MONDO:0018078 soft tissue sarcoma skos:exactMatch Orphanet:3394 Soft tissue sarcoma semapv:UnspecifiedMatching MONDO:0018078 soft tissue sarcoma skos:exactMatch SCTID:424952003 semapv:UnspecifiedMatching MONDO:0018078 soft tissue sarcoma skos:exactMatch UMLS:C4551687 semapv:UnspecifiedMatching MONDO:0018079 thymic epithelial neoplasm skos:exactMatch MEDGEN:220416 semapv:UnspecifiedMatching MONDO:0018079 thymic epithelial neoplasm skos:exactMatch NCIT:C6450 Thymus Epithelial Neoplasm semapv:UnspecifiedMatching MONDO:0018079 thymic epithelial neoplasm skos:exactMatch Orphanet:3398 Thymic epithelial neoplasm semapv:UnspecifiedMatching MONDO:0018079 thymic epithelial neoplasm skos:exactMatch UMLS:C1266101 semapv:UnspecifiedMatching MONDO:0018079 thymic epithelial neoplasm skos:exactMatch mesh:C536905 semapv:UnspecifiedMatching MONDO:0018080 obsolete rare germ cell tumor skos:exactMatch Orphanet:3399 Germ cell tumor semapv:UnspecifiedMatching MONDO:0018080 obsolete rare germ cell tumor skos:exactMatch SCTID:402878003 semapv:UnspecifiedMatching MONDO:0018081 hemorrhagic fever-renal syndrome skos:exactMatch MEDGEN:42408 semapv:UnspecifiedMatching MONDO:0018081 hemorrhagic fever-renal syndrome skos:exactMatch Orphanet:340 Hemorrhagic fever-renal syndrome semapv:UnspecifiedMatching MONDO:0018081 hemorrhagic fever-renal syndrome skos:exactMatch UMLS:C0019101 semapv:UnspecifiedMatching MONDO:0018081 hemorrhagic fever-renal syndrome skos:exactMatch icd11.foundation:1059069619 Haemorrhagic fever with renal syndrome semapv:UnspecifiedMatching MONDO:0018081 hemorrhagic fever-renal syndrome skos:exactMatch mesh:C535630 semapv:UnspecifiedMatching MONDO:0018082 aorto-ventricular tunnel skos:exactMatch MEDGEN:868852 semapv:UnspecifiedMatching MONDO:0018082 aorto-ventricular tunnel skos:exactMatch Orphanet:3400 Aorto-ventricular tunnel semapv:UnspecifiedMatching MONDO:0018082 aorto-ventricular tunnel skos:exactMatch UMLS:C4023262 semapv:UnspecifiedMatching MONDO:0018082 aorto-ventricular tunnel skos:exactMatch icd11.foundation:470594532 Aortoventricular tunnel semapv:UnspecifiedMatching MONDO:0018082 aorto-ventricular tunnel skos:exactMatch mesh:D000082903 semapv:UnspecifiedMatching MONDO:0018083 transient tyrosinemia of the newborn skos:exactMatch MEDGEN:541331 semapv:UnspecifiedMatching MONDO:0018083 transient tyrosinemia of the newborn skos:exactMatch Orphanet:3402 Transient tyrosinemia of the newborn semapv:UnspecifiedMatching MONDO:0018083 transient tyrosinemia of the newborn skos:exactMatch UMLS:C0268485 semapv:UnspecifiedMatching MONDO:0018084 Uhl anomaly skos:exactMatch MEDGEN:78576 semapv:UnspecifiedMatching MONDO:0018084 Uhl anomaly skos:exactMatch Orphanet:3403 Uhl anomaly semapv:UnspecifiedMatching MONDO:0018084 Uhl anomaly skos:exactMatch UMLS:C0265857 semapv:UnspecifiedMatching MONDO:0018084 Uhl anomaly skos:exactMatch icd11.foundation:240652322 Parchment right ventricle semapv:UnspecifiedMatching MONDO:0018084 Uhl anomaly skos:exactMatch mesh:C536932 semapv:UnspecifiedMatching MONDO:0018085 umbilical cord ulceration-intestinal atresia syndrome skos:exactMatch MEDGEN:419062 semapv:UnspecifiedMatching MONDO:0018085 umbilical cord ulceration-intestinal atresia syndrome skos:exactMatch Orphanet:3405 Umbilical cord ulceration-intestinal atresia syndrome semapv:UnspecifiedMatching MONDO:0018085 umbilical cord ulceration-intestinal atresia syndrome skos:exactMatch UMLS:C2931371 semapv:UnspecifiedMatching MONDO:0018085 umbilical cord ulceration-intestinal atresia syndrome skos:exactMatch mesh:C536938 semapv:UnspecifiedMatching MONDO:0018086 ulerythema ophryogenesis skos:exactMatch MEDGEN:1813086 semapv:UnspecifiedMatching MONDO:0018086 ulerythema ophryogenesis skos:exactMatch Orphanet:3406 Ulerythema ophryogenesis semapv:UnspecifiedMatching MONDO:0018086 ulerythema ophryogenesis skos:exactMatch UMLS:C5700076 semapv:UnspecifiedMatching MONDO:0018087 viral hemorrhagic fever skos:exactMatch MEDGEN:9213 semapv:UnspecifiedMatching MONDO:0018087 viral hemorrhagic fever skos:exactMatch NCIT:C36170 Viral Hemorrhagic Fever semapv:UnspecifiedMatching MONDO:0018087 viral hemorrhagic fever skos:exactMatch Orphanet:341 Viral hemorrhagic fever semapv:UnspecifiedMatching MONDO:0018087 viral hemorrhagic fever skos:exactMatch SCTID:240523007 semapv:UnspecifiedMatching MONDO:0018087 viral hemorrhagic fever skos:exactMatch UMLS:C0019104 semapv:UnspecifiedMatching MONDO:0018087 viral hemorrhagic fever skos:exactMatch mesh:D006482 semapv:UnspecifiedMatching MONDO:0018088 familial Mediterranean fever skos:exactMatch DOID:2987 familial Mediterranean fever semapv:UnspecifiedMatching MONDO:0018088 familial Mediterranean fever skos:exactMatch MEDGEN:45811 semapv:UnspecifiedMatching MONDO:0018088 familial Mediterranean fever skos:exactMatch NCIT:C84707 Familial Mediterranean Fever semapv:UnspecifiedMatching MONDO:0018088 familial Mediterranean fever skos:exactMatch Orphanet:342 Familial Mediterranean fever semapv:UnspecifiedMatching MONDO:0018088 familial Mediterranean fever skos:exactMatch SCTID:12579009 semapv:UnspecifiedMatching MONDO:0018088 familial Mediterranean fever skos:exactMatch UMLS:C0031069 semapv:UnspecifiedMatching MONDO:0018088 familial Mediterranean fever skos:exactMatch icd11.foundation:1373335705 Familial Mediterranean fever semapv:UnspecifiedMatching MONDO:0018088 familial Mediterranean fever skos:exactMatch mesh:D010505 semapv:UnspecifiedMatching MONDO:0018089 double outlet right ventricle skos:exactMatch DOID:6406 double outlet right ventricle semapv:UnspecifiedMatching MONDO:0018089 double outlet right ventricle skos:exactMatch ICD10CM:Q20.1 Double outlet right ventricle semapv:UnspecifiedMatching MONDO:0018089 double outlet right ventricle skos:exactMatch MEDGEN:41649 semapv:UnspecifiedMatching MONDO:0018089 double outlet right ventricle skos:exactMatch NCIT:C98916 Double Outlet Right Ventricle semapv:UnspecifiedMatching MONDO:0018089 double outlet right ventricle skos:exactMatch Orphanet:3426 Double outlet right ventricle semapv:UnspecifiedMatching MONDO:0018089 double outlet right ventricle skos:exactMatch SCTID:204299009 semapv:UnspecifiedMatching MONDO:0018089 double outlet right ventricle skos:exactMatch UMLS:C0013069 semapv:UnspecifiedMatching MONDO:0018089 double outlet right ventricle skos:exactMatch icd11.foundation:141717788 Double outlet right ventricle semapv:UnspecifiedMatching MONDO:0018089 double outlet right ventricle skos:exactMatch mesh:D004310 semapv:UnspecifiedMatching MONDO:0018090 double outlet left ventricle skos:exactMatch ICD10CM:Q20.2 Double outlet left ventricle semapv:UnspecifiedMatching MONDO:0018090 double outlet left ventricle skos:exactMatch MEDGEN:120558 semapv:UnspecifiedMatching MONDO:0018090 double outlet left ventricle skos:exactMatch Orphanet:3427 Double outlet left ventricle semapv:UnspecifiedMatching MONDO:0018090 double outlet left ventricle skos:exactMatch SCTID:7368005 semapv:UnspecifiedMatching MONDO:0018090 double outlet left ventricle skos:exactMatch UMLS:C0265809 semapv:UnspecifiedMatching MONDO:0018090 double outlet left ventricle skos:exactMatch icd11.foundation:2094997989 Double outlet left ventricle semapv:UnspecifiedMatching MONDO:0018091 microcephaly-brachydactyly-kyphoscoliosis syndrome skos:exactMatch MEDGEN:419731 semapv:UnspecifiedMatching MONDO:0018091 microcephaly-brachydactyly-kyphoscoliosis syndrome skos:exactMatch Orphanet:3433 Microcephaly-brachydactyly-kyphoscoliosis syndrome semapv:UnspecifiedMatching MONDO:0018091 microcephaly-brachydactyly-kyphoscoliosis syndrome skos:exactMatch SCTID:719378009 semapv:UnspecifiedMatching MONDO:0018091 microcephaly-brachydactyly-kyphoscoliosis syndrome skos:exactMatch UMLS:C2931177 semapv:UnspecifiedMatching MONDO:0018091 microcephaly-brachydactyly-kyphoscoliosis syndrome skos:exactMatch mesh:C536349 semapv:UnspecifiedMatching MONDO:0018092 Vogt-Koyanagi-Harada disease skos:exactMatch DOID:12297 Vogt-Koyanagi-Harada disease semapv:UnspecifiedMatching MONDO:0018092 Vogt-Koyanagi-Harada disease skos:exactMatch ICD10CM:H20.82 Vogt-Koyanagi syndrome semapv:UnspecifiedMatching MONDO:0018092 Vogt-Koyanagi-Harada disease skos:exactMatch ICD10CM:H30.81 Harada's disease semapv:UnspecifiedMatching MONDO:0018092 Vogt-Koyanagi-Harada disease skos:exactMatch MEDGEN:22599 semapv:UnspecifiedMatching MONDO:0018092 Vogt-Koyanagi-Harada disease skos:exactMatch NCIT:C85218 Uveomeningoencephalitic Syndrome semapv:UnspecifiedMatching MONDO:0018092 Vogt-Koyanagi-Harada disease skos:exactMatch Orphanet:3437 Vogt-Koyanagi-Harada disease semapv:UnspecifiedMatching MONDO:0018092 Vogt-Koyanagi-Harada disease skos:exactMatch SCTID:193497004 semapv:UnspecifiedMatching MONDO:0018092 Vogt-Koyanagi-Harada disease skos:exactMatch UMLS:C0042170 semapv:UnspecifiedMatching MONDO:0018092 Vogt-Koyanagi-Harada disease skos:exactMatch mesh:D014607 semapv:UnspecifiedMatching MONDO:0018093 arbovirus fever skos:exactMatch MEDGEN:1826163 semapv:UnspecifiedMatching MONDO:0018093 arbovirus fever skos:exactMatch UMLS:C1388359 semapv:UnspecifiedMatching MONDO:0018094 Waardenburg syndrome skos:exactMatch DOID:9258 Waardenburg syndrome semapv:UnspecifiedMatching MONDO:0018094 Waardenburg syndrome skos:exactMatch MEDGEN:473809 semapv:UnspecifiedMatching MONDO:0018094 Waardenburg syndrome skos:exactMatch NCIT:C85222 Waardenburg Syndrome semapv:UnspecifiedMatching MONDO:0018094 Waardenburg syndrome skos:exactMatch OMIMPS:193500 Waardenburg syndrome semapv:UnspecifiedMatching MONDO:0018094 Waardenburg syndrome skos:exactMatch Orphanet:3440 Waardenburg syndrome semapv:UnspecifiedMatching MONDO:0018094 Waardenburg syndrome skos:exactMatch SCTID:715952000 semapv:UnspecifiedMatching MONDO:0018094 Waardenburg syndrome skos:exactMatch UMLS:C3266898 semapv:UnspecifiedMatching MONDO:0018094 Waardenburg syndrome skos:exactMatch icd11.foundation:304883627 Waardenburg syndrome semapv:UnspecifiedMatching MONDO:0018094 Waardenburg syndrome skos:exactMatch mesh:D014849 semapv:UnspecifiedMatching MONDO:0018095 Weaver-Williams syndrome skos:exactMatch MEDGEN:1392915 semapv:UnspecifiedMatching MONDO:0018095 Weaver-Williams syndrome skos:exactMatch Orphanet:3448 Weaver-Williams syndrome semapv:UnspecifiedMatching MONDO:0018095 Weaver-Williams syndrome skos:exactMatch UMLS:C0796198 semapv:UnspecifiedMatching MONDO:0018096 Weill-Marchesani syndrome skos:exactMatch DOID:0050475 Weill-Marchesani syndrome semapv:UnspecifiedMatching MONDO:0018096 Weill-Marchesani syndrome skos:exactMatch MEDGEN:82705 semapv:UnspecifiedMatching MONDO:0018096 Weill-Marchesani syndrome skos:exactMatch NCIT:C85226 Weill-Marchesani Syndrome semapv:UnspecifiedMatching MONDO:0018096 Weill-Marchesani syndrome skos:exactMatch OMIMPS:277600 Weill-Marchesani syndrome semapv:UnspecifiedMatching MONDO:0018096 Weill-Marchesani syndrome skos:exactMatch Orphanet:3449 Weill-Marchesani syndrome semapv:UnspecifiedMatching MONDO:0018096 Weill-Marchesani syndrome skos:exactMatch SCTID:2884008 semapv:UnspecifiedMatching MONDO:0018096 Weill-Marchesani syndrome skos:exactMatch UMLS:C0265313 semapv:UnspecifiedMatching MONDO:0018096 Weill-Marchesani syndrome skos:exactMatch mesh:D056846 semapv:UnspecifiedMatching MONDO:0018097 infantile spasms skos:exactMatch DOID:0050562 West syndrome semapv:UnspecifiedMatching MONDO:0018097 infantile spasms skos:exactMatch MEDGEN:11519 semapv:UnspecifiedMatching MONDO:0018097 infantile spasms skos:exactMatch NCIT:C84788 West Syndrome semapv:UnspecifiedMatching MONDO:0018097 infantile spasms skos:exactMatch Orphanet:697160 Infantile epileptic spasms syndrome semapv:UnspecifiedMatching MONDO:0018097 infantile spasms skos:exactMatch SCTID:28055006 semapv:UnspecifiedMatching MONDO:0018097 infantile spasms skos:exactMatch UMLS:C0037769 semapv:UnspecifiedMatching MONDO:0018097 infantile spasms skos:exactMatch icd11.foundation:1023597213 Infantile spasms semapv:UnspecifiedMatching MONDO:0018098 autosomal dominant limb-girdle muscular dystrophy type 1E (DES) skos:exactMatch MEDGEN:929970 semapv:UnspecifiedMatching MONDO:0018098 autosomal dominant limb-girdle muscular dystrophy type 1E (DES) skos:exactMatch UMLS:C4304301 semapv:UnspecifiedMatching MONDO:0018100 familial primary hypomagnesemia skos:exactMatch DOID:0060879 primary hypomagnesemia semapv:UnspecifiedMatching MONDO:0018100 familial primary hypomagnesemia skos:exactMatch MEDGEN:57481 semapv:UnspecifiedMatching MONDO:0018100 familial primary hypomagnesemia skos:exactMatch NCIT:C123263 Familial Primary Hypomagnesemia semapv:UnspecifiedMatching MONDO:0018100 familial primary hypomagnesemia skos:exactMatch OMIMPS:602014 Hypomagnesemia semapv:UnspecifiedMatching MONDO:0018100 familial primary hypomagnesemia skos:exactMatch SCTID:80710001 semapv:UnspecifiedMatching MONDO:0018100 familial primary hypomagnesemia skos:exactMatch UMLS:C0151723 semapv:UnspecifiedMatching MONDO:0018101 familial primary hypomagnesemia with normocalciuria and normocalcemia skos:exactMatch MEDGEN:1390277 semapv:UnspecifiedMatching MONDO:0018101 familial primary hypomagnesemia with normocalciuria and normocalcemia skos:exactMatch SCTID:725031005 semapv:UnspecifiedMatching MONDO:0018101 familial primary hypomagnesemia with normocalciuria and normocalcemia skos:exactMatch UMLS:C4510731 semapv:UnspecifiedMatching MONDO:0018102 corneal dystrophy skos:exactMatch DOID:2566 corneal dystrophy semapv:UnspecifiedMatching MONDO:0018102 corneal dystrophy skos:exactMatch MEDGEN:3619 semapv:UnspecifiedMatching MONDO:0018102 corneal dystrophy skos:exactMatch NCIT:C34513 Corneal Dystrophy semapv:UnspecifiedMatching MONDO:0018102 corneal dystrophy skos:exactMatch Orphanet:34533 Corneal dystrophy semapv:UnspecifiedMatching MONDO:0018102 corneal dystrophy skos:exactMatch SCTID:5587004 semapv:UnspecifiedMatching MONDO:0018102 corneal dystrophy skos:exactMatch UMLS:C0010036 semapv:UnspecifiedMatching MONDO:0018102 corneal dystrophy skos:exactMatch icd11.foundation:1291475891 Hereditary corneal dystrophies semapv:UnspecifiedMatching MONDO:0018102 corneal dystrophy skos:exactMatch mesh:D003317 semapv:UnspecifiedMatching MONDO:0018103 Quinquaud's folliculitis decalvans skos:exactMatch MEDGEN:750617 semapv:UnspecifiedMatching MONDO:0018103 Quinquaud's folliculitis decalvans skos:exactMatch Orphanet:346 Quinquaud folliculitis decalvans semapv:UnspecifiedMatching MONDO:0018103 Quinquaud's folliculitis decalvans skos:exactMatch SCTID:53593008 semapv:UnspecifiedMatching MONDO:0018103 Quinquaud's folliculitis decalvans skos:exactMatch UMLS:C2608043 semapv:UnspecifiedMatching MONDO:0018103 Quinquaud's folliculitis decalvans skos:exactMatch icd11.foundation:1454811046 Folliculitis decalvans semapv:UnspecifiedMatching MONDO:0018104 obsolete Torg-Winchester syndrome skos:exactMatch Orphanet:3460 Torg-Winchester syndrome semapv:UnspecifiedMatching MONDO:0018105 Wolfram syndrome skos:exactMatch DOID:10632 Wolfram syndrome semapv:UnspecifiedMatching MONDO:0018105 Wolfram syndrome skos:exactMatch MEDGEN:21923 semapv:UnspecifiedMatching MONDO:0018105 Wolfram syndrome skos:exactMatch NCIT:C35133 Wolfram Syndrome semapv:UnspecifiedMatching MONDO:0018105 Wolfram syndrome skos:exactMatch Orphanet:3463 Wolfram syndrome semapv:UnspecifiedMatching MONDO:0018105 Wolfram syndrome skos:exactMatch SCTID:70694009 semapv:UnspecifiedMatching MONDO:0018105 Wolfram syndrome skos:exactMatch UMLS:C0043207 semapv:UnspecifiedMatching MONDO:0018105 Wolfram syndrome skos:exactMatch icd11.foundation:151381747 Wolfram syndrome semapv:UnspecifiedMatching MONDO:0018105 Wolfram syndrome skos:exactMatch mesh:D014929 semapv:UnspecifiedMatching MONDO:0018106 hereditary xanthinuria skos:exactMatch DOID:0060236 xanthinuria semapv:UnspecifiedMatching MONDO:0018106 hereditary xanthinuria skos:exactMatch MEDGEN:1830243 semapv:UnspecifiedMatching MONDO:0018106 hereditary xanthinuria skos:exactMatch OMIMPS:278300 Xanthinuria semapv:UnspecifiedMatching MONDO:0018106 hereditary xanthinuria skos:exactMatch Orphanet:3467 Hereditary xanthinuria semapv:UnspecifiedMatching MONDO:0018106 hereditary xanthinuria skos:exactMatch SCTID:54627004 semapv:UnspecifiedMatching MONDO:0018106 hereditary xanthinuria skos:exactMatch UMLS:C5779508 semapv:UnspecifiedMatching MONDO:0018107 obsolete idiopathic recurrent and disabling cutaneous herpes skos:exactMatch Orphanet:35061 OBSOLETE: Idiopathic recurrent and disabling cutaneous herpes semapv:UnspecifiedMatching MONDO:0018108 idiopathic disseminated cytomegalovirus infection skos:exactMatch MEDGEN:1826159 semapv:UnspecifiedMatching MONDO:0018108 idiopathic disseminated cytomegalovirus infection skos:exactMatch Orphanet:35062 Severe disseminated cytomegalovirus infection in immunocompetent patients semapv:UnspecifiedMatching MONDO:0018108 idiopathic disseminated cytomegalovirus infection skos:exactMatch UMLS:C5680152 semapv:UnspecifiedMatching MONDO:0018109 fulminant viral hepatitis skos:exactMatch MEDGEN:547442 semapv:UnspecifiedMatching MONDO:0018109 fulminant viral hepatitis skos:exactMatch Orphanet:35063 Fulminant viral hepatitis semapv:UnspecifiedMatching MONDO:0018109 fulminant viral hepatitis skos:exactMatch UMLS:C0276624 semapv:UnspecifiedMatching MONDO:0018109 fulminant viral hepatitis skos:exactMatch icd11.foundation:369649302 Fulminant viral hepatitis semapv:UnspecifiedMatching MONDO:0018110 obsolete lethal idiopathic viral infection skos:exactMatch Orphanet:35064 OBSOLETE: Lethal idiopathic viral infection semapv:UnspecifiedMatching MONDO:0018112 obsolete isolated scaphocephaly skos:exactMatch Orphanet:35093 Non-syndromic sagittal craniosynostosis semapv:UnspecifiedMatching MONDO:0018113 obsolete isolated plagiocephaly skos:exactMatch Orphanet:35098 OBSOLETE: Isolated plagiocephaly semapv:UnspecifiedMatching MONDO:0018114 obsolete isolated brachycephaly skos:exactMatch Orphanet:35099 Non-syndromic bicoronal craniosynostosis semapv:UnspecifiedMatching MONDO:0018115 epidermal nevus syndrome skos:exactMatch MEDGEN:1847175 semapv:UnspecifiedMatching MONDO:0018115 epidermal nevus syndrome skos:exactMatch Orphanet:35125 Epidermal nevus syndrome semapv:UnspecifiedMatching MONDO:0018115 epidermal nevus syndrome skos:exactMatch SCTID:239112008 semapv:UnspecifiedMatching MONDO:0018115 epidermal nevus syndrome skos:exactMatch UMLS:C5848385 semapv:UnspecifiedMatching MONDO:0018116 galactosemia skos:exactMatch DOID:9870 galactosemia semapv:UnspecifiedMatching MONDO:0018116 galactosemia skos:exactMatch ICD10CM:E74.21 Galactosemia semapv:UnspecifiedMatching MONDO:0018116 galactosemia skos:exactMatch MEDGEN:8943 semapv:UnspecifiedMatching MONDO:0018116 galactosemia skos:exactMatch NCIT:C84723 Galactosemia semapv:UnspecifiedMatching MONDO:0018116 galactosemia skos:exactMatch OMIMPS:230400 Galactosemia semapv:UnspecifiedMatching MONDO:0018116 galactosemia skos:exactMatch Orphanet:352 Galactosemia semapv:UnspecifiedMatching MONDO:0018116 galactosemia skos:exactMatch SCTID:190745006 semapv:UnspecifiedMatching MONDO:0018116 galactosemia skos:exactMatch UMLS:C0016952 semapv:UnspecifiedMatching MONDO:0018116 galactosemia skos:exactMatch mesh:D005693 semapv:UnspecifiedMatching MONDO:0018117 disorder of phospholipids, sphingolipids and fatty acids biosynthesis skos:exactMatch MEDGEN:1843236 semapv:UnspecifiedMatching MONDO:0018117 disorder of phospholipids, sphingolipids and fatty acids biosynthesis skos:exactMatch Orphanet:352301 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis semapv:UnspecifiedMatching MONDO:0018117 disorder of phospholipids, sphingolipids and fatty acids biosynthesis skos:exactMatch UMLS:C5680990 semapv:UnspecifiedMatching MONDO:0018118 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement skos:exactMatch Orphanet:352306 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement semapv:UnspecifiedMatching MONDO:0018119 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement skos:exactMatch Orphanet:352309 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement semapv:UnspecifiedMatching MONDO:0018120 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement skos:exactMatch Orphanet:352312 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement semapv:UnspecifiedMatching MONDO:0018121 mitochondrial DNA maintenance syndrome skos:exactMatch MEDGEN:1826064 semapv:UnspecifiedMatching MONDO:0018121 mitochondrial DNA maintenance syndrome skos:exactMatch Orphanet:352456 Mitochondrial DNA maintenance syndrome semapv:UnspecifiedMatching MONDO:0018121 mitochondrial DNA maintenance syndrome skos:exactMatch UMLS:C5679930 semapv:UnspecifiedMatching MONDO:0018123 intellectual disability-obesity-brain malformations-facial dysmorphism syndrome skos:exactMatch MEDGEN:1644787 semapv:UnspecifiedMatching MONDO:0018123 intellectual disability-obesity-brain malformations-facial dysmorphism syndrome skos:exactMatch Orphanet:352530 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome semapv:UnspecifiedMatching MONDO:0018123 intellectual disability-obesity-brain malformations-facial dysmorphism syndrome skos:exactMatch UMLS:C4706414 semapv:UnspecifiedMatching MONDO:0018124 Oncogenic osteomalacia skos:exactMatch MEDGEN:226893 semapv:UnspecifiedMatching MONDO:0018124 Oncogenic osteomalacia skos:exactMatch NCIT:C67235 Oncogenic Osteomalacia semapv:UnspecifiedMatching MONDO:0018124 Oncogenic osteomalacia skos:exactMatch Orphanet:352540 Oncogenic osteomalacia semapv:UnspecifiedMatching MONDO:0018124 Oncogenic osteomalacia skos:exactMatch SCTID:392559009 semapv:UnspecifiedMatching MONDO:0018124 Oncogenic osteomalacia skos:exactMatch UMLS:C1274103 semapv:UnspecifiedMatching MONDO:0018124 Oncogenic osteomalacia skos:exactMatch mesh:C537751 semapv:UnspecifiedMatching MONDO:0018125 focal epilepsy-intellectual disability-cerebro-cerebellar malformation skos:exactMatch MEDGEN:1640999 semapv:UnspecifiedMatching MONDO:0018125 focal epilepsy-intellectual disability-cerebro-cerebellar malformation skos:exactMatch Orphanet:352587 Focal epilepsy-intellectual disability-cerebro-cerebellar malformation semapv:UnspecifiedMatching MONDO:0018125 focal epilepsy-intellectual disability-cerebro-cerebellar malformation skos:exactMatch UMLS:C4707306 semapv:UnspecifiedMatching MONDO:0018126 progressive myoclonic epilepsy with dystonia skos:exactMatch MEDGEN:1642042 semapv:UnspecifiedMatching MONDO:0018126 progressive myoclonic epilepsy with dystonia skos:exactMatch Orphanet:352596 Progressive myoclonic epilepsy with dystonia semapv:UnspecifiedMatching MONDO:0018126 progressive myoclonic epilepsy with dystonia skos:exactMatch SCTID:763349002 semapv:UnspecifiedMatching MONDO:0018126 progressive myoclonic epilepsy with dystonia skos:exactMatch UMLS:C4706413 semapv:UnspecifiedMatching MONDO:0018127 16q24.1 microdeletion syndrome skos:exactMatch MEDGEN:1653385 semapv:UnspecifiedMatching MONDO:0018127 16q24.1 microdeletion syndrome skos:exactMatch Orphanet:352629 16q24.1 microdeletion syndrome semapv:UnspecifiedMatching MONDO:0018127 16q24.1 microdeletion syndrome skos:exactMatch UMLS:C4749464 semapv:UnspecifiedMatching MONDO:0018128 phalangeal microgeodic syndrome skos:exactMatch MEDGEN:1658987 semapv:UnspecifiedMatching MONDO:0018128 phalangeal microgeodic syndrome skos:exactMatch Orphanet:352636 Phalangeal microgeodic syndrome semapv:UnspecifiedMatching MONDO:0018128 phalangeal microgeodic syndrome skos:exactMatch UMLS:C4749465 semapv:UnspecifiedMatching MONDO:0018129 autosomal recessive cerebellar ataxia with late-onset spasticity skos:exactMatch MEDGEN:1635411 semapv:UnspecifiedMatching MONDO:0018129 autosomal recessive cerebellar ataxia with late-onset spasticity skos:exactMatch Orphanet:352641 Autosomal recessive cerebellar ataxia with late-onset spasticity semapv:UnspecifiedMatching MONDO:0018129 autosomal recessive cerebellar ataxia with late-onset spasticity skos:exactMatch SCTID:763348005 semapv:UnspecifiedMatching MONDO:0018129 autosomal recessive cerebellar ataxia with late-onset spasticity skos:exactMatch UMLS:C4706412 semapv:UnspecifiedMatching MONDO:0018130 brain dopamine-serotonin vesicular transport disease skos:exactMatch DOID:0070490 infantile parkinsonism-dystonia 2 semapv:UnspecifiedMatching MONDO:0018130 brain dopamine-serotonin vesicular transport disease skos:exactMatch MEDGEN:929215 semapv:UnspecifiedMatching MONDO:0018130 brain dopamine-serotonin vesicular transport disease skos:exactMatch OMIM:618049 parkinsonism-dystonia 2, infantile-onset semapv:UnspecifiedMatching MONDO:0018130 brain dopamine-serotonin vesicular transport disease skos:exactMatch Orphanet:352649 Brain dopamine-serotonin vesicular transport disease semapv:UnspecifiedMatching MONDO:0018130 brain dopamine-serotonin vesicular transport disease skos:exactMatch SCTID:717942003 semapv:UnspecifiedMatching MONDO:0018130 brain dopamine-serotonin vesicular transport disease skos:exactMatch UMLS:C4303546 semapv:UnspecifiedMatching MONDO:0018131 neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to 9q21 microdeletion skos:exactMatch MEDGEN:1842292 semapv:UnspecifiedMatching MONDO:0018131 neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to 9q21 microdeletion skos:exactMatch Orphanet:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion semapv:UnspecifiedMatching MONDO:0018131 neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to 9q21 microdeletion skos:exactMatch UMLS:C5679925 semapv:UnspecifiedMatching MONDO:0018132 obsolete congenital muscular alpha-dystroglycanopathy with brain and eye anomalies skos:exactMatch DOID:0111229 congenital muscular dystrophy-dystroglycanopathy type A semapv:UnspecifiedMatching MONDO:0018132 obsolete congenital muscular alpha-dystroglycanopathy with brain and eye anomalies skos:exactMatch Orphanet:352687 Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies semapv:UnspecifiedMatching MONDO:0018133 attenuated Chédiak-Higashi syndrome skos:exactMatch MEDGEN:929691 semapv:UnspecifiedMatching MONDO:0018133 attenuated Chédiak-Higashi syndrome skos:exactMatch Orphanet:352723 Attenuated Chédiak-Higashi syndrome semapv:UnspecifiedMatching MONDO:0018133 attenuated Chédiak-Higashi syndrome skos:exactMatch SCTID:720520009 semapv:UnspecifiedMatching MONDO:0018133 attenuated Chédiak-Higashi syndrome skos:exactMatch UMLS:C4304022 semapv:UnspecifiedMatching MONDO:0018134 disorder of melanin metabolism skos:exactMatch MEDGEN:1842889 semapv:UnspecifiedMatching MONDO:0018134 disorder of melanin metabolism skos:exactMatch Orphanet:352728 Disorder of melanin metabolism semapv:UnspecifiedMatching MONDO:0018134 disorder of melanin metabolism skos:exactMatch UMLS:C5680988 semapv:UnspecifiedMatching MONDO:0018135 oculocutaneous albinism type 1 skos:exactMatch MEDGEN:82809 semapv:UnspecifiedMatching MONDO:0018135 oculocutaneous albinism type 1 skos:exactMatch Orphanet:352731 Oculocutaneous albinism type 1 semapv:UnspecifiedMatching MONDO:0018135 oculocutaneous albinism type 1 skos:exactMatch SCTID:765146000 semapv:UnspecifiedMatching MONDO:0018135 oculocutaneous albinism type 1 skos:exactMatch UMLS:C0268494 semapv:UnspecifiedMatching MONDO:0018135 oculocutaneous albinism type 1 skos:exactMatch mesh:C537728 semapv:UnspecifiedMatching MONDO:0018136 minimal pigment oculocutaneous albinism type 1 skos:exactMatch MEDGEN:1842241 semapv:UnspecifiedMatching MONDO:0018136 minimal pigment oculocutaneous albinism type 1 skos:exactMatch Orphanet:352734 Minimal pigment oculocutaneous albinism type 1 semapv:UnspecifiedMatching MONDO:0018136 minimal pigment oculocutaneous albinism type 1 skos:exactMatch SCTID:237919007 semapv:UnspecifiedMatching MONDO:0018136 minimal pigment oculocutaneous albinism type 1 skos:exactMatch UMLS:C5679923 semapv:UnspecifiedMatching MONDO:0018137 temperature-sensitive oculocutaneous albinism type 1 skos:exactMatch MEDGEN:337736 semapv:UnspecifiedMatching MONDO:0018137 temperature-sensitive oculocutaneous albinism type 1 skos:exactMatch Orphanet:352737 Temperature-sensitive oculocutaneous albinism type 1 semapv:UnspecifiedMatching MONDO:0018137 temperature-sensitive oculocutaneous albinism type 1 skos:exactMatch UMLS:C1847132 semapv:UnspecifiedMatching MONDO:0018138 obsolete ocular albinism with congenital sensorineural hearing loss skos:exactMatch DOID:0090100 ocular albinism with sensorineural deafness semapv:UnspecifiedMatching MONDO:0018138 obsolete ocular albinism with congenital sensorineural hearing loss skos:exactMatch OMIM:103470 semapv:UnspecifiedMatching MONDO:0018138 obsolete ocular albinism with congenital sensorineural hearing loss skos:exactMatch Orphanet:352740 Ocular albinism with congenital sensorineural deafness semapv:UnspecifiedMatching MONDO:0018141 pyruvate carboxylase deficiency, infantile form skos:exactMatch MEDGEN:1842180 semapv:UnspecifiedMatching MONDO:0018141 pyruvate carboxylase deficiency, infantile form skos:exactMatch Orphanet:353308 Pyruvate carboxylase deficiency, infantile type semapv:UnspecifiedMatching MONDO:0018141 pyruvate carboxylase deficiency, infantile form skos:exactMatch UMLS:C5679928 semapv:UnspecifiedMatching MONDO:0018142 pyruvate carboxylase deficiency, severe neonatal type skos:exactMatch MEDGEN:1842956 semapv:UnspecifiedMatching MONDO:0018142 pyruvate carboxylase deficiency, severe neonatal type skos:exactMatch Orphanet:353314 Pyruvate carboxylase deficiency, severe neonatal type semapv:UnspecifiedMatching MONDO:0018142 pyruvate carboxylase deficiency, severe neonatal type skos:exactMatch UMLS:C5679929 semapv:UnspecifiedMatching MONDO:0018143 pyruvate carboxylase deficiency, benign type skos:exactMatch MEDGEN:1842785 semapv:UnspecifiedMatching MONDO:0018143 pyruvate carboxylase deficiency, benign type skos:exactMatch Orphanet:353320 Pyruvate carboxylase deficiency, benign type semapv:UnspecifiedMatching MONDO:0018143 pyruvate carboxylase deficiency, benign type skos:exactMatch UMLS:C5679927 semapv:UnspecifiedMatching MONDO:0018144 obsolete congenital myasthenic syndromes with glycosylation defect skos:exactMatch Orphanet:353327 Congenital myasthenic syndromes with glycosylation defect semapv:UnspecifiedMatching MONDO:0018145 congenital retinal arteriovenous communication skos:exactMatch MEDGEN:105478 semapv:UnspecifiedMatching MONDO:0018145 congenital retinal arteriovenous communication skos:exactMatch Orphanet:353334 Congenital retinal arteriovenous communication semapv:UnspecifiedMatching MONDO:0018145 congenital retinal arteriovenous communication skos:exactMatch UMLS:C0521570 semapv:UnspecifiedMatching MONDO:0018146 macular telangiectasia type 1 skos:exactMatch MEDGEN:1653394 semapv:UnspecifiedMatching MONDO:0018146 macular telangiectasia type 1 skos:exactMatch Orphanet:353344 Idiopathic macular telangiectasia type 1 semapv:UnspecifiedMatching MONDO:0018146 macular telangiectasia type 1 skos:exactMatch UMLS:C4751437 semapv:UnspecifiedMatching MONDO:0018147 macular telangiectasia type 3 skos:exactMatch MEDGEN:1658435 semapv:UnspecifiedMatching MONDO:0018147 macular telangiectasia type 3 skos:exactMatch Orphanet:353351 Idiopathic macular telangiectasia type 3 semapv:UnspecifiedMatching MONDO:0018147 macular telangiectasia type 3 skos:exactMatch UMLS:C4751436 semapv:UnspecifiedMatching MONDO:0018148 vasoproliferative tumor of retina skos:exactMatch MEDGEN:1652844 semapv:UnspecifiedMatching MONDO:0018148 vasoproliferative tumor of retina skos:exactMatch Orphanet:353356 Vasoproliferative tumor of the retina semapv:UnspecifiedMatching MONDO:0018148 vasoproliferative tumor of retina skos:exactMatch UMLS:C4749792 semapv:UnspecifiedMatching MONDO:0018149 GM1 gangliosidosis skos:exactMatch DOID:3322 GM1 gangliosidosis semapv:UnspecifiedMatching MONDO:0018149 GM1 gangliosidosis skos:exactMatch MEDGEN:43107 semapv:UnspecifiedMatching MONDO:0018149 GM1 gangliosidosis skos:exactMatch NCIT:C84739 GM1 Gangliosidosis semapv:UnspecifiedMatching MONDO:0018149 GM1 gangliosidosis skos:exactMatch Orphanet:354 GM1 gangliosidosis semapv:UnspecifiedMatching MONDO:0018149 GM1 gangliosidosis skos:exactMatch SCTID:124465002 semapv:UnspecifiedMatching MONDO:0018149 GM1 gangliosidosis skos:exactMatch SCTID:238025006 semapv:UnspecifiedMatching MONDO:0018149 GM1 gangliosidosis skos:exactMatch UMLS:C0085131 semapv:UnspecifiedMatching MONDO:0018149 GM1 gangliosidosis skos:exactMatch icd11.foundation:401105928 GM1 gangliosidosis semapv:UnspecifiedMatching MONDO:0018149 GM1 gangliosidosis skos:exactMatch mesh:D016537 semapv:UnspecifiedMatching MONDO:0018150 Gaucher disease skos:exactMatch DOID:1926 Gaucher's disease semapv:UnspecifiedMatching MONDO:0018150 Gaucher disease skos:exactMatch ICD10CM:E75.22 Gaucher disease semapv:UnspecifiedMatching MONDO:0018150 Gaucher disease skos:exactMatch MEDGEN:42164 semapv:UnspecifiedMatching MONDO:0018150 Gaucher disease skos:exactMatch NCIT:C61268 Gaucher Disease semapv:UnspecifiedMatching MONDO:0018150 Gaucher disease skos:exactMatch Orphanet:355 Gaucher disease semapv:UnspecifiedMatching MONDO:0018150 Gaucher disease skos:exactMatch SCTID:190794006 semapv:UnspecifiedMatching MONDO:0018150 Gaucher disease skos:exactMatch UMLS:C0017205 semapv:UnspecifiedMatching MONDO:0018150 Gaucher disease skos:exactMatch icd11.foundation:1923566939 Gaucher disease semapv:UnspecifiedMatching MONDO:0018150 Gaucher disease skos:exactMatch mesh:D005776 semapv:UnspecifiedMatching MONDO:0018151 coenzyme Q10 deficiency skos:exactMatch DOID:0050730 coenzyme Q10 deficiency disease semapv:UnspecifiedMatching MONDO:0018151 coenzyme Q10 deficiency skos:exactMatch MEDGEN:334528 semapv:UnspecifiedMatching MONDO:0018151 coenzyme Q10 deficiency skos:exactMatch NCIT:C142083 Coenzyme Q10 Deficiency semapv:UnspecifiedMatching MONDO:0018151 coenzyme Q10 deficiency skos:exactMatch OMIMPS:607426 Coenzyme Q10 deficiency, primary semapv:UnspecifiedMatching MONDO:0018151 coenzyme Q10 deficiency skos:exactMatch Orphanet:35656 Coenzyme Q10 deficiency semapv:UnspecifiedMatching MONDO:0018151 coenzyme Q10 deficiency skos:exactMatch SCTID:724575009 semapv:UnspecifiedMatching MONDO:0018151 coenzyme Q10 deficiency skos:exactMatch UMLS:C1843920 semapv:UnspecifiedMatching MONDO:0018151 coenzyme Q10 deficiency skos:exactMatch icd11.foundation:1251664337 Coenzyme Q10 deficiency semapv:UnspecifiedMatching MONDO:0018151 coenzyme Q10 deficiency skos:exactMatch mesh:C564403 semapv:UnspecifiedMatching MONDO:0018152 serpiginous choroiditis skos:exactMatch MEDGEN:152674 semapv:UnspecifiedMatching MONDO:0018152 serpiginous choroiditis skos:exactMatch Orphanet:35686 Serpiginous choroiditis semapv:UnspecifiedMatching MONDO:0018152 serpiginous choroiditis skos:exactMatch SCTID:312491004 semapv:UnspecifiedMatching MONDO:0018152 serpiginous choroiditis skos:exactMatch UMLS:C0729842 semapv:UnspecifiedMatching MONDO:0018152 serpiginous choroiditis skos:exactMatch icd11.foundation:1404422398 Serpiginous Choroiditis semapv:UnspecifiedMatching MONDO:0018153 Erdheim-Chester disease skos:exactMatch DOID:4329 Erdheim-Chester disease semapv:UnspecifiedMatching MONDO:0018153 Erdheim-Chester disease skos:exactMatch EFO:1000926 semapv:UnspecifiedMatching MONDO:0018153 Erdheim-Chester disease skos:exactMatch MEDGEN:163902 semapv:UnspecifiedMatching MONDO:0018153 Erdheim-Chester disease skos:exactMatch NCIT:C53972 Erdheim-Chester Disease semapv:UnspecifiedMatching MONDO:0018153 Erdheim-Chester disease skos:exactMatch Orphanet:35687 Erdheim-Chester disease semapv:UnspecifiedMatching MONDO:0018153 Erdheim-Chester disease skos:exactMatch SCTID:699537002 semapv:UnspecifiedMatching MONDO:0018153 Erdheim-Chester disease skos:exactMatch UMLS:C0878675 semapv:UnspecifiedMatching MONDO:0018153 Erdheim-Chester disease skos:exactMatch icd11.foundation:1395439137 Erdheim-Chester disease semapv:UnspecifiedMatching MONDO:0018153 Erdheim-Chester disease skos:exactMatch icd11.foundation:146718003 semapv:UnspecifiedMatching MONDO:0018153 Erdheim-Chester disease skos:exactMatch mesh:D031249 semapv:UnspecifiedMatching MONDO:0018154 Madelung deformity skos:exactMatch MEDGEN:57537 semapv:UnspecifiedMatching MONDO:0018154 Madelung deformity skos:exactMatch SCTID:4530000 semapv:UnspecifiedMatching MONDO:0018154 Madelung deformity skos:exactMatch UMLS:C0152441 semapv:UnspecifiedMatching MONDO:0018154 Madelung deformity skos:exactMatch icd11.foundation:1398663515 Madelung deformity semapv:UnspecifiedMatching MONDO:0018154 Madelung deformity skos:exactMatch mesh:C562398 semapv:UnspecifiedMatching MONDO:0018155 lateral sclerosis skos:exactMatch DOID:230 lateral sclerosis semapv:UnspecifiedMatching MONDO:0018155 lateral sclerosis skos:exactMatch ICD10CM:G12.23 Primary lateral sclerosis semapv:UnspecifiedMatching MONDO:0018155 lateral sclerosis skos:exactMatch MEDGEN:57591 semapv:UnspecifiedMatching MONDO:0018155 lateral sclerosis skos:exactMatch NCIT:C129933 Primary Lateral Sclerosis semapv:UnspecifiedMatching MONDO:0018155 lateral sclerosis skos:exactMatch Orphanet:35689 Primary lateral sclerosis semapv:UnspecifiedMatching MONDO:0018155 lateral sclerosis skos:exactMatch SCTID:81211007 semapv:UnspecifiedMatching MONDO:0018155 lateral sclerosis skos:exactMatch UMLS:C0154682 semapv:UnspecifiedMatching MONDO:0018155 lateral sclerosis skos:exactMatch icd11.foundation:1686688462 Primary lateral sclerosis semapv:UnspecifiedMatching MONDO:0018156 3q26q27 microdeletion syndrome skos:exactMatch MEDGEN:1668723 semapv:UnspecifiedMatching MONDO:0018156 3q26q27 microdeletion syndrome skos:exactMatch UMLS:C4755255 semapv:UnspecifiedMatching MONDO:0018157 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis skos:exactMatch Orphanet:35696 Mitochondrial disorder due to a defect in mitochondrial protein synthesis semapv:UnspecifiedMatching MONDO:0018158 mitochondrial DNA depletion syndrome skos:exactMatch DOID:0070329 mitochondrial DNA depletion syndrome semapv:UnspecifiedMatching MONDO:0018158 mitochondrial DNA depletion syndrome skos:exactMatch MEDGEN:452449 semapv:UnspecifiedMatching MONDO:0018158 mitochondrial DNA depletion syndrome skos:exactMatch OMIMPS:603041 Mitochondrial DNA depletion syndrome semapv:UnspecifiedMatching MONDO:0018158 mitochondrial DNA depletion syndrome skos:exactMatch Orphanet:35698 Mitochondrial DNA depletion syndrome semapv:UnspecifiedMatching MONDO:0018158 mitochondrial DNA depletion syndrome skos:exactMatch UMLS:C0342782 semapv:UnspecifiedMatching MONDO:0018158 mitochondrial DNA depletion syndrome skos:exactMatch icd11.foundation:1159345506 Mitochondrial DNA depletion syndromes semapv:UnspecifiedMatching MONDO:0018159 atypical hemolytic-uremic syndrome with DGKE deficiency skos:exactMatch MEDGEN:1826167 semapv:UnspecifiedMatching MONDO:0018159 atypical hemolytic-uremic syndrome with DGKE deficiency skos:exactMatch Orphanet:357008 Hemolytic uremic syndrome with DGKE deficiency semapv:UnspecifiedMatching MONDO:0018159 atypical hemolytic-uremic syndrome with DGKE deficiency skos:exactMatch UMLS:C5679921 semapv:UnspecifiedMatching MONDO:0018160 hereditary retinoblastoma skos:exactMatch DOID:4648 familial retinoblastoma semapv:UnspecifiedMatching MONDO:0018160 hereditary retinoblastoma skos:exactMatch MEDGEN:155869 semapv:UnspecifiedMatching MONDO:0018160 hereditary retinoblastoma skos:exactMatch NCIT:C8495 Hereditary Retinoblastoma semapv:UnspecifiedMatching MONDO:0018160 hereditary retinoblastoma skos:exactMatch OMIM:180200 retinoblastoma semapv:UnspecifiedMatching MONDO:0018160 hereditary retinoblastoma skos:exactMatch Orphanet:357027 Hereditary retinoblastoma semapv:UnspecifiedMatching MONDO:0018160 hereditary retinoblastoma skos:exactMatch UMLS:C0751483 semapv:UnspecifiedMatching MONDO:0018161 non-hereditary retinoblastoma skos:exactMatch EFO:0005717 semapv:UnspecifiedMatching MONDO:0018161 non-hereditary retinoblastoma skos:exactMatch MEDGEN:1842255 semapv:UnspecifiedMatching MONDO:0018161 non-hereditary retinoblastoma skos:exactMatch Orphanet:357034 Non-hereditary retinoblastoma semapv:UnspecifiedMatching MONDO:0018161 non-hereditary retinoblastoma skos:exactMatch UMLS:C5680987 semapv:UnspecifiedMatching MONDO:0018162 neurometabolic disorder due to serine deficiency skos:exactMatch MEDGEN:1842451 semapv:UnspecifiedMatching MONDO:0018162 neurometabolic disorder due to serine deficiency skos:exactMatch Orphanet:35705 Neurometabolic disorder due to serine deficiency semapv:UnspecifiedMatching MONDO:0018162 neurometabolic disorder due to serine deficiency skos:exactMatch UMLS:C5680148 semapv:UnspecifiedMatching MONDO:0018163 autosomal recessive cutis laxa type 2A skos:exactMatch DOID:0070134 autosomal recessive cutis laxa type IIA semapv:UnspecifiedMatching MONDO:0018163 autosomal recessive cutis laxa type 2A skos:exactMatch MEDGEN:82795 semapv:UnspecifiedMatching MONDO:0018163 autosomal recessive cutis laxa type 2A skos:exactMatch OMIM:219200 cutis laxa, autosomal recessive, type 2a semapv:UnspecifiedMatching MONDO:0018163 autosomal recessive cutis laxa type 2A skos:exactMatch Orphanet:357058 Autosomal recessive cutis laxa type 2A semapv:UnspecifiedMatching MONDO:0018163 autosomal recessive cutis laxa type 2A skos:exactMatch UMLS:C0268355 semapv:UnspecifiedMatching MONDO:0018164 arterial thoracic outlet syndrome skos:exactMatch MEDGEN:365116 semapv:UnspecifiedMatching MONDO:0018164 arterial thoracic outlet syndrome skos:exactMatch Orphanet:357107 Arterial thoracic outlet syndrome semapv:UnspecifiedMatching MONDO:0018164 arterial thoracic outlet syndrome skos:exactMatch SCTID:8051000119105 semapv:UnspecifiedMatching MONDO:0018164 arterial thoracic outlet syndrome skos:exactMatch UMLS:C1956395 semapv:UnspecifiedMatching MONDO:0018165 venous thoracic outlet syndrome skos:exactMatch MEDGEN:408326 semapv:UnspecifiedMatching MONDO:0018165 venous thoracic outlet syndrome skos:exactMatch Orphanet:357131 Venous thoracic outlet syndrome semapv:UnspecifiedMatching MONDO:0018165 venous thoracic outlet syndrome skos:exactMatch SCTID:25981000119102 semapv:UnspecifiedMatching MONDO:0018165 venous thoracic outlet syndrome skos:exactMatch UMLS:C1956396 semapv:UnspecifiedMatching MONDO:0018166 oral submucous fibrosis skos:exactMatch DOID:5773 oral submucous fibrosis semapv:UnspecifiedMatching MONDO:0018166 oral submucous fibrosis skos:exactMatch EFO:1001818 semapv:UnspecifiedMatching MONDO:0018166 oral submucous fibrosis skos:exactMatch ICD10CM:K13.5 Oral submucous fibrosis semapv:UnspecifiedMatching MONDO:0018166 oral submucous fibrosis skos:exactMatch MEDGEN:45213 semapv:UnspecifiedMatching MONDO:0018166 oral submucous fibrosis skos:exactMatch NCIT:C34866 Oral Cavity Submucous Fibrosis semapv:UnspecifiedMatching MONDO:0018166 oral submucous fibrosis skos:exactMatch Orphanet:357154 Oral submucous fibrosis semapv:UnspecifiedMatching MONDO:0018166 oral submucous fibrosis skos:exactMatch SCTID:32883009 semapv:UnspecifiedMatching MONDO:0018166 oral submucous fibrosis skos:exactMatch UMLS:C0029172 semapv:UnspecifiedMatching MONDO:0018166 oral submucous fibrosis skos:exactMatch icd11.foundation:1798376929 Oral submucous fibrosis semapv:UnspecifiedMatching MONDO:0018166 oral submucous fibrosis skos:exactMatch mesh:D009914 semapv:UnspecifiedMatching MONDO:0018167 primary essential cutis verticis gyrata skos:exactMatch MEDGEN:1632625 semapv:UnspecifiedMatching MONDO:0018167 primary essential cutis verticis gyrata skos:exactMatch Orphanet:357220 Primary essential cutis verticis gyrata semapv:UnspecifiedMatching MONDO:0018167 primary essential cutis verticis gyrata skos:exactMatch SCTID:765135003 semapv:UnspecifiedMatching MONDO:0018167 primary essential cutis verticis gyrata skos:exactMatch UMLS:C4707327 semapv:UnspecifiedMatching MONDO:0018167 primary essential cutis verticis gyrata skos:exactMatch icd11.foundation:895947895 Primary essential cutis verticis gyrata semapv:UnspecifiedMatching MONDO:0018168 primary non-essential cutis verticis gyrata skos:exactMatch MEDGEN:1653253 semapv:UnspecifiedMatching MONDO:0018168 primary non-essential cutis verticis gyrata skos:exactMatch Orphanet:357225 Primary non-essential cutis verticis gyrata semapv:UnspecifiedMatching MONDO:0018168 primary non-essential cutis verticis gyrata skos:exactMatch UMLS:C4755295 semapv:UnspecifiedMatching MONDO:0018168 primary non-essential cutis verticis gyrata skos:exactMatch icd11.foundation:129937701 Primary non-essential cutis verticis gyrata semapv:UnspecifiedMatching MONDO:0018169 morning glory syndrome skos:exactMatch MEDGEN:767635 semapv:UnspecifiedMatching MONDO:0018169 morning glory syndrome skos:exactMatch Orphanet:35737 Morning glory disc anomaly semapv:UnspecifiedMatching MONDO:0018169 morning glory syndrome skos:exactMatch UMLS:C3554721 semapv:UnspecifiedMatching MONDO:0018170 idiopathic nephrotic syndrome skos:exactMatch MEDGEN:501252 semapv:UnspecifiedMatching MONDO:0018170 idiopathic nephrotic syndrome skos:exactMatch NCIT:C122796 Idiopathic Nephrotic Syndrome semapv:UnspecifiedMatching MONDO:0018170 idiopathic nephrotic syndrome skos:exactMatch Orphanet:357502 Idiopathic nephrotic syndrome semapv:UnspecifiedMatching MONDO:0018170 idiopathic nephrotic syndrome skos:exactMatch UMLS:C3496337 semapv:UnspecifiedMatching MONDO:0018171 malignant germ cell tumor of ovary skos:exactMatch DOID:2155 malignant ovarian germ cell neoplasm semapv:UnspecifiedMatching MONDO:0018171 malignant germ cell tumor of ovary skos:exactMatch MEDGEN:87544 semapv:UnspecifiedMatching MONDO:0018171 malignant germ cell tumor of ovary skos:exactMatch NCIT:C4514 Malignant Ovarian Germ Cell Tumor semapv:UnspecifiedMatching MONDO:0018171 malignant germ cell tumor of ovary skos:exactMatch Orphanet:35807 Malignant germ cell tumor of ovary semapv:UnspecifiedMatching MONDO:0018171 malignant germ cell tumor of ovary skos:exactMatch SCTID:254869000 semapv:UnspecifiedMatching MONDO:0018171 malignant germ cell tumor of ovary skos:exactMatch UMLS:C0346180 semapv:UnspecifiedMatching MONDO:0018172 malignant sex cord stromal tumor of ovary skos:exactMatch MEDGEN:233667 semapv:UnspecifiedMatching MONDO:0018172 malignant sex cord stromal tumor of ovary skos:exactMatch NCIT:C8053 Malignant Ovarian Sex Cord-Stromal Tumor semapv:UnspecifiedMatching MONDO:0018172 malignant sex cord stromal tumor of ovary skos:exactMatch Orphanet:35808 Malignant sex cord stromal tumor of ovary semapv:UnspecifiedMatching MONDO:0018172 malignant sex cord stromal tumor of ovary skos:exactMatch UMLS:C1334609 semapv:UnspecifiedMatching MONDO:0018173 acute opioid poisoning skos:exactMatch Orphanet:35889 Acute opioid intoxication semapv:UnspecifiedMatching MONDO:0018173 acute opioid poisoning skos:exactMatch icd11.foundation:1395283456 Opioid intoxication semapv:UnspecifiedMatching MONDO:0018174 hereditary glaucoma skos:exactMatch MEDGEN:777991 semapv:UnspecifiedMatching MONDO:0018174 hereditary glaucoma skos:exactMatch Orphanet:359 Pediatric-onset glaucoma of genetic origin semapv:UnspecifiedMatching MONDO:0018174 hereditary glaucoma skos:exactMatch UMLS:C3711383 semapv:UnspecifiedMatching MONDO:0018174 hereditary glaucoma skos:exactMatch mesh:C580055 semapv:UnspecifiedMatching MONDO:0018175 combined deficiency of factor V and factor VIII skos:exactMatch MEDGEN:384006 semapv:UnspecifiedMatching MONDO:0018175 combined deficiency of factor V and factor VIII skos:exactMatch Orphanet:35909 Combined deficiency of factor V and factor VIII semapv:UnspecifiedMatching MONDO:0018175 combined deficiency of factor V and factor VIII skos:exactMatch SCTID:715559004 semapv:UnspecifiedMatching MONDO:0018175 combined deficiency of factor V and factor VIII skos:exactMatch UMLS:C1856883 semapv:UnspecifiedMatching MONDO:0018175 combined deficiency of factor V and factor VIII skos:exactMatch icd11.foundation:184219764 Combined deficiency of factor V and factor VIII semapv:UnspecifiedMatching MONDO:0018177 glioblastoma skos:exactMatch DOID:3068 glioblastoma semapv:UnspecifiedMatching MONDO:0018177 glioblastoma skos:exactMatch EFO:0000519 semapv:UnspecifiedMatching MONDO:0018177 glioblastoma skos:exactMatch MEDGEN:42228 semapv:UnspecifiedMatching MONDO:0018177 glioblastoma skos:exactMatch NCIT:C3058 Glioblastoma semapv:UnspecifiedMatching MONDO:0018177 glioblastoma skos:exactMatch Orphanet:360 Glioblastoma semapv:UnspecifiedMatching MONDO:0018177 glioblastoma skos:exactMatch SCTID:393563007 semapv:UnspecifiedMatching MONDO:0018177 glioblastoma skos:exactMatch UMLS:C0017636 semapv:UnspecifiedMatching MONDO:0018177 glioblastoma skos:exactMatch mesh:D005909 semapv:UnspecifiedMatching MONDO:0018178 intestinal lymphangiectasia skos:exactMatch MEDGEN:9828 semapv:UnspecifiedMatching MONDO:0018178 intestinal lymphangiectasia skos:exactMatch Orphanet:36204 Intestinal lymphangiectasia semapv:UnspecifiedMatching MONDO:0018178 intestinal lymphangiectasia skos:exactMatch SCTID:197260007 semapv:UnspecifiedMatching MONDO:0018178 intestinal lymphangiectasia skos:exactMatch UMLS:C0024215 semapv:UnspecifiedMatching MONDO:0018178 intestinal lymphangiectasia skos:exactMatch icd11.foundation:1255239964 Intestinal lymphangiectasia semapv:UnspecifiedMatching MONDO:0018180 staphylococcal scarlet fever skos:exactMatch MEDGEN:1853264 semapv:UnspecifiedMatching MONDO:0018180 staphylococcal scarlet fever skos:exactMatch Orphanet:36235 Staphylococcal scarlet fever semapv:UnspecifiedMatching MONDO:0018180 staphylococcal scarlet fever skos:exactMatch UMLS:C5848379 semapv:UnspecifiedMatching MONDO:0018180 staphylococcal scarlet fever skos:exactMatch icd11.foundation:449652676 Staphylococcal scarlatina semapv:UnspecifiedMatching MONDO:0018181 staphylococcal scalded skin syndrome skos:exactMatch DOID:9063 Ritter's disease semapv:UnspecifiedMatching MONDO:0018181 staphylococcal scalded skin syndrome skos:exactMatch EFO:0007473 semapv:UnspecifiedMatching MONDO:0018181 staphylococcal scalded skin syndrome skos:exactMatch ICD10CM:L00 Staphylococcal scalded skin syndrome semapv:UnspecifiedMatching MONDO:0018181 staphylococcal scalded skin syndrome skos:exactMatch ICD10WHO:L00 Staphylococcal scalded skin syndrome semapv:UnspecifiedMatching MONDO:0018181 staphylococcal scalded skin syndrome skos:exactMatch MEDGEN:52484 semapv:UnspecifiedMatching MONDO:0018181 staphylococcal scalded skin syndrome skos:exactMatch NCIT:C85077 Staphylococcal Scalded Skin Syndrome semapv:UnspecifiedMatching MONDO:0018181 staphylococcal scalded skin syndrome skos:exactMatch Orphanet:36236 Staphylococcal scalded skin syndrome semapv:UnspecifiedMatching MONDO:0018181 staphylococcal scalded skin syndrome skos:exactMatch SCTID:200946001 semapv:UnspecifiedMatching MONDO:0018181 staphylococcal scalded skin syndrome skos:exactMatch SCTID:277475006 semapv:UnspecifiedMatching MONDO:0018181 staphylococcal scalded skin syndrome skos:exactMatch UMLS:C0038165 semapv:UnspecifiedMatching MONDO:0018181 staphylococcal scalded skin syndrome skos:exactMatch icd11.foundation:1554593739 Staphylococcal scalded skin syndrome semapv:UnspecifiedMatching MONDO:0018181 staphylococcal scalded skin syndrome skos:exactMatch mesh:D013206 semapv:UnspecifiedMatching MONDO:0018182 bullous impetigo skos:exactMatch ICD10CM:L01.03 Bullous impetigo semapv:UnspecifiedMatching MONDO:0018182 bullous impetigo skos:exactMatch MEDGEN:507838 semapv:UnspecifiedMatching MONDO:0018182 bullous impetigo skos:exactMatch Orphanet:36237 Bullous impetigo semapv:UnspecifiedMatching MONDO:0018182 bullous impetigo skos:exactMatch SCTID:399183005 semapv:UnspecifiedMatching MONDO:0018182 bullous impetigo skos:exactMatch UMLS:C0021100 semapv:UnspecifiedMatching MONDO:0018182 bullous impetigo skos:exactMatch icd11.foundation:1398484288 Bullous impetigo semapv:UnspecifiedMatching MONDO:0018183 staphylococcal necrotizing pneumonia skos:exactMatch MEDGEN:1637863 semapv:UnspecifiedMatching MONDO:0018183 staphylococcal necrotizing pneumonia skos:exactMatch Orphanet:36238 Staphylococcal necrotizing pneumonia semapv:UnspecifiedMatching MONDO:0018183 staphylococcal necrotizing pneumonia skos:exactMatch SCTID:763888005 semapv:UnspecifiedMatching MONDO:0018183 staphylococcal necrotizing pneumonia skos:exactMatch UMLS:C4706659 semapv:UnspecifiedMatching MONDO:0018184 gastric linitis plastica skos:exactMatch DOID:4023 linitis plastica semapv:UnspecifiedMatching MONDO:0018184 gastric linitis plastica skos:exactMatch MEDGEN:7345 semapv:UnspecifiedMatching MONDO:0018184 gastric linitis plastica skos:exactMatch NCIT:C3190 Linitis Plastica semapv:UnspecifiedMatching MONDO:0018184 gastric linitis plastica skos:exactMatch Orphanet:36273 Gastric linitis plastica semapv:UnspecifiedMatching MONDO:0018184 gastric linitis plastica skos:exactMatch SCTID:721629005 semapv:UnspecifiedMatching MONDO:0018184 gastric linitis plastica skos:exactMatch UMLS:C0023743 semapv:UnspecifiedMatching MONDO:0018184 gastric linitis plastica skos:exactMatch icd11.foundation:1165754036 Linitis plastica of stomach semapv:UnspecifiedMatching MONDO:0018184 gastric linitis plastica skos:exactMatch mesh:D008039 semapv:UnspecifiedMatching MONDO:0018185 obsolete congenital anomaly of the great veins skos:exactMatch Orphanet:363189 Congenital anomaly of the great veins semapv:UnspecifiedMatching MONDO:0018186 obsolete ring chromosome skos:exactMatch Orphanet:363203 Ring chromosome syndrome semapv:UnspecifiedMatching MONDO:0018187 obsolete hereditary syndromic Pierre Robin syndrome skos:exactMatch Orphanet:363294 Genetic syndromic Pierre Robin syndrome semapv:UnspecifiedMatching MONDO:0018188 obsolete hereditary intestinal polyposis skos:exactMatch Orphanet:363314 Genetic intestinal polyposis semapv:UnspecifiedMatching MONDO:0018189 autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome skos:exactMatch MEDGEN:1644588 semapv:UnspecifiedMatching MONDO:0018189 autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome skos:exactMatch Orphanet:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome semapv:UnspecifiedMatching MONDO:0018189 autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome skos:exactMatch UMLS:C4706388 semapv:UnspecifiedMatching MONDO:0018190 autosomal dominant childhood-onset proximal spinal muscular atrophy skos:exactMatch DOID:0070348 spinal muscular atrophy with lower extremity predominant semapv:UnspecifiedMatching MONDO:0018190 autosomal dominant childhood-onset proximal spinal muscular atrophy skos:exactMatch MEDGEN:322470 semapv:UnspecifiedMatching MONDO:0018190 autosomal dominant childhood-onset proximal spinal muscular atrophy skos:exactMatch OMIMPS:158600 Spinal muscular atrophy, lower extremity-predominant semapv:UnspecifiedMatching MONDO:0018190 autosomal dominant childhood-onset proximal spinal muscular atrophy skos:exactMatch Orphanet:363447 Autosomal dominant childhood-onset proximal spinal muscular atrophy semapv:UnspecifiedMatching MONDO:0018190 autosomal dominant childhood-onset proximal spinal muscular atrophy skos:exactMatch UMLS:C1834690 semapv:UnspecifiedMatching MONDO:0018191 obsolete tumor of testis and paratestis skos:exactMatch Orphanet:363472 Tumor of testis and paratestis semapv:UnspecifiedMatching MONDO:0018192 paratesticular adenocarcinoma skos:exactMatch MEDGEN:1678623 semapv:UnspecifiedMatching MONDO:0018192 paratesticular adenocarcinoma skos:exactMatch Orphanet:363478 Paratesticular adenocarcinoma semapv:UnspecifiedMatching MONDO:0018192 paratesticular adenocarcinoma skos:exactMatch UMLS:C5190800 semapv:UnspecifiedMatching MONDO:0018193 testicular teratoma skos:exactMatch EFO:1000573 semapv:UnspecifiedMatching MONDO:0018193 testicular teratoma skos:exactMatch MEDGEN:68669 semapv:UnspecifiedMatching MONDO:0018193 testicular teratoma skos:exactMatch NCIT:C3877 Testicular Teratoma semapv:UnspecifiedMatching MONDO:0018193 testicular teratoma skos:exactMatch Orphanet:363483 Testicular teratoma semapv:UnspecifiedMatching MONDO:0018193 testicular teratoma skos:exactMatch UMLS:C0238451 semapv:UnspecifiedMatching MONDO:0018197 mitochondrial DNA depletion syndrome, hepatocerebrorenal form skos:exactMatch MEDGEN:1674910 semapv:UnspecifiedMatching MONDO:0018197 mitochondrial DNA depletion syndrome, hepatocerebrorenal form skos:exactMatch Orphanet:363534 Mitochondrial DNA depletion syndrome, hepatocerebrorenal form semapv:UnspecifiedMatching MONDO:0018197 mitochondrial DNA depletion syndrome, hepatocerebrorenal form skos:exactMatch UMLS:C5190602 semapv:UnspecifiedMatching MONDO:0018198 acute encephalopathy with biphasic seizures and late reduced diffusion skos:exactMatch MEDGEN:1645136 semapv:UnspecifiedMatching MONDO:0018198 acute encephalopathy with biphasic seizures and late reduced diffusion skos:exactMatch Orphanet:363549 Acute encephalopathy with biphasic seizures and late reduced diffusion semapv:UnspecifiedMatching MONDO:0018198 acute encephalopathy with biphasic seizures and late reduced diffusion skos:exactMatch SCTID:766044005 semapv:UnspecifiedMatching MONDO:0018198 acute encephalopathy with biphasic seizures and late reduced diffusion skos:exactMatch UMLS:C4707658 semapv:UnspecifiedMatching MONDO:0018199 new-onset refractory status epilepticus skos:exactMatch MEDGEN:1657271 semapv:UnspecifiedMatching MONDO:0018199 new-onset refractory status epilepticus skos:exactMatch Orphanet:363558 New-onset refractory status epilepticus semapv:UnspecifiedMatching MONDO:0018199 new-onset refractory status epilepticus skos:exactMatch UMLS:C4749462 semapv:UnspecifiedMatching MONDO:0018200 obsolete acute encephalopathy with inflammation-mediated status epilepticus skos:exactMatch Orphanet:363567 Acute encephalopathy with inflammation-mediated status epilepticus semapv:UnspecifiedMatching MONDO:0018201 extragonadal germ cell tumor skos:exactMatch MEDGEN:75506 semapv:UnspecifiedMatching MONDO:0018201 extragonadal germ cell tumor skos:exactMatch NCIT:C3918 Extragonadal Germ Cell Tumor semapv:UnspecifiedMatching MONDO:0018201 extragonadal germ cell tumor skos:exactMatch Orphanet:363579 Extragonadal germ cell tumor semapv:UnspecifiedMatching MONDO:0018201 extragonadal germ cell tumor skos:exactMatch UMLS:C0262963 semapv:UnspecifiedMatching MONDO:0018202 gonadal germ cell tumor skos:exactMatch Orphanet:363582 Gonadal germ cell tumor semapv:UnspecifiedMatching MONDO:0018203 LMNA-related cardiocutaneous progeria syndrome skos:exactMatch MEDGEN:1667690 semapv:UnspecifiedMatching MONDO:0018203 LMNA-related cardiocutaneous progeria syndrome skos:exactMatch Orphanet:363618 LMNA-related cardiocutaneous progeria syndrome semapv:UnspecifiedMatching MONDO:0018203 LMNA-related cardiocutaneous progeria syndrome skos:exactMatch UMLS:C4750858 semapv:UnspecifiedMatching MONDO:0018204 20q11.2 microduplication syndrome skos:exactMatch MEDGEN:1639138 semapv:UnspecifiedMatching MONDO:0018204 20q11.2 microduplication syndrome skos:exactMatch Orphanet:363659 20q11.2 microduplication syndrome semapv:UnspecifiedMatching MONDO:0018204 20q11.2 microduplication syndrome skos:exactMatch SCTID:763061004 semapv:UnspecifiedMatching MONDO:0018204 20q11.2 microduplication syndrome skos:exactMatch UMLS:C4706257 semapv:UnspecifiedMatching MONDO:0018205 distal monosomy 1q skos:exactMatch MEDGEN:900126 semapv:UnspecifiedMatching MONDO:0018205 distal monosomy 1q skos:exactMatch Orphanet:36367 Distal deletion 1q syndrome semapv:UnspecifiedMatching MONDO:0018205 distal monosomy 1q skos:exactMatch SCTID:717633007 semapv:UnspecifiedMatching MONDO:0018205 distal monosomy 1q skos:exactMatch UMLS:C4273897 semapv:UnspecifiedMatching MONDO:0018206 childhood-onset autosomal recessive myopathy with external ophthalmoplegia skos:exactMatch MEDGEN:1673410 semapv:UnspecifiedMatching MONDO:0018206 childhood-onset autosomal recessive myopathy with external ophthalmoplegia skos:exactMatch Orphanet:363677 Childhood-onset autosomal recessive myopathy with external ophthalmoplegia semapv:UnspecifiedMatching MONDO:0018206 childhood-onset autosomal recessive myopathy with external ophthalmoplegia skos:exactMatch UMLS:C5192594 semapv:UnspecifiedMatching MONDO:0018207 2p13.2 microdeletion syndrome skos:exactMatch MEDGEN:1662313 semapv:UnspecifiedMatching MONDO:0018207 2p13.2 microdeletion syndrome skos:exactMatch Orphanet:363680 2p13.2 microdeletion syndrome semapv:UnspecifiedMatching MONDO:0018207 2p13.2 microdeletion syndrome skos:exactMatch UMLS:C4749460 semapv:UnspecifiedMatching MONDO:0018208 neurofibromatosis type 1 due to NF1 mutation or intragenic deletion skos:exactMatch MEDGEN:1842855 semapv:UnspecifiedMatching MONDO:0018208 neurofibromatosis type 1 due to NF1 mutation or intragenic deletion skos:exactMatch Orphanet:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion semapv:UnspecifiedMatching MONDO:0018208 neurofibromatosis type 1 due to NF1 mutation or intragenic deletion skos:exactMatch UMLS:C5779636 semapv:UnspecifiedMatching MONDO:0018209 Alexander disease type I skos:exactMatch MEDGEN:1820954 semapv:UnspecifiedMatching MONDO:0018209 Alexander disease type I skos:exactMatch Orphanet:363717 Alexander disease type I semapv:UnspecifiedMatching MONDO:0018209 Alexander disease type I skos:exactMatch UMLS:C5769581 semapv:UnspecifiedMatching MONDO:0018210 Alexander disease type II skos:exactMatch MEDGEN:1842714 semapv:UnspecifiedMatching MONDO:0018210 Alexander disease type II skos:exactMatch Orphanet:363722 Alexander disease type II semapv:UnspecifiedMatching MONDO:0018210 Alexander disease type II skos:exactMatch UMLS:C5679914 semapv:UnspecifiedMatching MONDO:0018211 Balint syndrome skos:exactMatch MEDGEN:1646315 semapv:UnspecifiedMatching MONDO:0018211 Balint syndrome skos:exactMatch Orphanet:363746 Balint syndrome semapv:UnspecifiedMatching MONDO:0018211 Balint syndrome skos:exactMatch SCTID:765212008 semapv:UnspecifiedMatching MONDO:0018211 Balint syndrome skos:exactMatch UMLS:C4707368 semapv:UnspecifiedMatching MONDO:0018211 Balint syndrome skos:exactMatch icd11.foundation:491228434 Balint syndrome semapv:UnspecifiedMatching MONDO:0018212 familial cervical artery dissection skos:exactMatch MEDGEN:1659372 semapv:UnspecifiedMatching MONDO:0018212 familial cervical artery dissection skos:exactMatch UMLS:C4755308 semapv:UnspecifiedMatching MONDO:0018213 hereditary sensory and autonomic neuropathy type 1 skos:exactMatch DOID:0070162 hereditary sensory and autonomic neuropathy type 1 semapv:UnspecifiedMatching MONDO:0018213 hereditary sensory and autonomic neuropathy type 1 skos:exactMatch MEDGEN:5645 semapv:UnspecifiedMatching MONDO:0018213 hereditary sensory and autonomic neuropathy type 1 skos:exactMatch Orphanet:36386 Hereditary sensory and autonomic neuropathy type 1 semapv:UnspecifiedMatching MONDO:0018213 hereditary sensory and autonomic neuropathy type 1 skos:exactMatch SCTID:397734008 semapv:UnspecifiedMatching MONDO:0018213 hereditary sensory and autonomic neuropathy type 1 skos:exactMatch UMLS:C0020071 semapv:UnspecifiedMatching MONDO:0018213 hereditary sensory and autonomic neuropathy type 1 skos:exactMatch icd11.foundation:1989773046 Hereditary sensory and autonomic neuropathy type I semapv:UnspecifiedMatching MONDO:0018214 generalized epilepsy with febrile seizures plus skos:exactMatch DOID:0060170 generalized epilepsy with febrile seizures plus semapv:UnspecifiedMatching MONDO:0018214 generalized epilepsy with febrile seizures plus skos:exactMatch MEDGEN:503203 semapv:UnspecifiedMatching MONDO:0018214 generalized epilepsy with febrile seizures plus skos:exactMatch NCIT:C122811 Generalized Epilepsy with Febrile Seizures Plus semapv:UnspecifiedMatching MONDO:0018214 generalized epilepsy with febrile seizures plus skos:exactMatch OMIMPS:604233 Epilepsy, generalized, with febrile seizures plus semapv:UnspecifiedMatching MONDO:0018214 generalized epilepsy with febrile seizures plus skos:exactMatch Orphanet:36387 Genetic epilepsy with febrile seizure plus semapv:UnspecifiedMatching MONDO:0018214 generalized epilepsy with febrile seizures plus skos:exactMatch SCTID:699688008 semapv:UnspecifiedMatching MONDO:0018214 generalized epilepsy with febrile seizures plus skos:exactMatch UMLS:C3502809 semapv:UnspecifiedMatching MONDO:0018214 generalized epilepsy with febrile seizures plus skos:exactMatch mesh:C565808 semapv:UnspecifiedMatching MONDO:0018215 paraneoplastic neurologic syndrome skos:exactMatch MEDGEN:155656 semapv:UnspecifiedMatching MONDO:0018215 paraneoplastic neurologic syndrome skos:exactMatch Orphanet:36388 Paraneoplastic neurologic syndrome semapv:UnspecifiedMatching MONDO:0018215 paraneoplastic neurologic syndrome skos:exactMatch SCTID:192877007 semapv:UnspecifiedMatching MONDO:0018215 paraneoplastic neurologic syndrome skos:exactMatch UMLS:C0751911 semapv:UnspecifiedMatching MONDO:0018216 Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome skos:exactMatch DOID:0050880 Koolen de Vries syndrome semapv:UnspecifiedMatching MONDO:0018216 Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome skos:exactMatch Orphanet:363958 17q21.31 microdeletion syndrome semapv:UnspecifiedMatching MONDO:0018216 Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome skos:exactMatch SCTID:717338006 semapv:UnspecifiedMatching MONDO:0018216 Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome skos:exactMatch mesh:C566476 semapv:UnspecifiedMatching MONDO:0018217 Koolen-de Vries syndrome due to a point mutation skos:exactMatch MEDGEN:1843302 semapv:UnspecifiedMatching MONDO:0018217 Koolen-de Vries syndrome due to a point mutation skos:exactMatch Orphanet:363965 Koolen-De Vries syndrome due to a point mutation semapv:UnspecifiedMatching MONDO:0018217 Koolen-de Vries syndrome due to a point mutation skos:exactMatch UMLS:C5680974 semapv:UnspecifiedMatching MONDO:0018218 autosomal recessive cerebral atrophy skos:exactMatch MEDGEN:1653890 semapv:UnspecifiedMatching MONDO:0018218 autosomal recessive cerebral atrophy skos:exactMatch Orphanet:363969 Autosomal recessive cerebral atrophy semapv:UnspecifiedMatching MONDO:0018218 autosomal recessive cerebral atrophy skos:exactMatch UMLS:C4755252 semapv:UnspecifiedMatching MONDO:0018221 immune hydrops fetalis skos:exactMatch MEDGEN:105328 semapv:UnspecifiedMatching MONDO:0018221 immune hydrops fetalis skos:exactMatch NCIT:C111904 Immune Hydrops Fetalis semapv:UnspecifiedMatching MONDO:0018221 immune hydrops fetalis skos:exactMatch Orphanet:364013 Immune hydrops fetalis semapv:UnspecifiedMatching MONDO:0018221 immune hydrops fetalis skos:exactMatch SCTID:15539009 semapv:UnspecifiedMatching MONDO:0018221 immune hydrops fetalis skos:exactMatch UMLS:C0455990 semapv:UnspecifiedMatching MONDO:0018221 immune hydrops fetalis skos:exactMatch icd11.foundation:1589938690 Hydrops fetalis due to isoimmunization semapv:UnspecifiedMatching MONDO:0018223 systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood skos:exactMatch DOID:0070324 systemic Epstein-Barr virus positive T-cell lymphoma of childhood semapv:UnspecifiedMatching MONDO:0018223 systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood skos:exactMatch MEDGEN:397492 semapv:UnspecifiedMatching MONDO:0018223 systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood skos:exactMatch NCIT:C80374 Systemic EBV-Positive T-Cell Lymphoma of Childhood semapv:UnspecifiedMatching MONDO:0018223 systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood skos:exactMatch Orphanet:364033 Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood semapv:UnspecifiedMatching MONDO:0018223 systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood skos:exactMatch SCTID:721311006 semapv:UnspecifiedMatching MONDO:0018223 systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood skos:exactMatch UMLS:C2699747 semapv:UnspecifiedMatching MONDO:0018224 hydroa vacciniforme-like lymphoma skos:exactMatch MEDGEN:317758 semapv:UnspecifiedMatching MONDO:0018224 hydroa vacciniforme-like lymphoma skos:exactMatch NCIT:C45327 Hydroa Vacciniforme Lymphoproliferative Disorder semapv:UnspecifiedMatching MONDO:0018224 hydroa vacciniforme-like lymphoma skos:exactMatch Orphanet:364039 Hydroa vacciniforme-like lymphoma semapv:UnspecifiedMatching MONDO:0018224 hydroa vacciniforme-like lymphoma skos:exactMatch SCTID:763719001 semapv:UnspecifiedMatching MONDO:0018224 hydroa vacciniforme-like lymphoma skos:exactMatch UMLS:C1708397 semapv:UnspecifiedMatching MONDO:0018225 ALK-positive large B-cell lymphoma skos:exactMatch MEDGEN:232429 semapv:UnspecifiedMatching MONDO:0018225 ALK-positive large B-cell lymphoma skos:exactMatch NCIT:C7225 ALK-Positive Large B-Cell Lymphoma semapv:UnspecifiedMatching MONDO:0018225 ALK-positive large B-cell lymphoma skos:exactMatch Orphanet:364043 ALK-positive large B-cell lymphoma semapv:UnspecifiedMatching MONDO:0018225 ALK-positive large B-cell lymphoma skos:exactMatch SCTID:715950008 semapv:UnspecifiedMatching MONDO:0018225 ALK-positive large B-cell lymphoma skos:exactMatch UMLS:C1333294 semapv:UnspecifiedMatching MONDO:0018225 ALK-positive large B-cell lymphoma skos:exactMatch icd11.foundation:2077559619 ALK-positive large B-cell lymphoma semapv:UnspecifiedMatching MONDO:0018226 infantile epileptic-dyskinetic encephalopathy skos:exactMatch MEDGEN:1637882 semapv:UnspecifiedMatching MONDO:0018226 infantile epileptic-dyskinetic encephalopathy skos:exactMatch Orphanet:364063 Infantile epileptic-dyskinetic encephalopathy semapv:UnspecifiedMatching MONDO:0018226 infantile epileptic-dyskinetic encephalopathy skos:exactMatch UMLS:C4552072 semapv:UnspecifiedMatching MONDO:0018226 infantile epileptic-dyskinetic encephalopathy skos:exactMatch mesh:C567924 semapv:UnspecifiedMatching MONDO:0018227 hypocomplementemic urticarial vasculitis skos:exactMatch MEDGEN:83360 semapv:UnspecifiedMatching MONDO:0018227 hypocomplementemic urticarial vasculitis skos:exactMatch Orphanet:36412 Hypocomplementemic urticarial vasculitis semapv:UnspecifiedMatching MONDO:0018227 hypocomplementemic urticarial vasculitis skos:exactMatch SCTID:239945009 semapv:UnspecifiedMatching MONDO:0018227 hypocomplementemic urticarial vasculitis skos:exactMatch UMLS:C0343206 semapv:UnspecifiedMatching MONDO:0018227 hypocomplementemic urticarial vasculitis skos:exactMatch icd11.foundation:629572966 Hypocomplementaemic urticarial vasculitis semapv:UnspecifiedMatching MONDO:0018228 bipartite talus skos:exactMatch MEDGEN:1631166 semapv:UnspecifiedMatching MONDO:0018228 bipartite talus skos:exactMatch Orphanet:364198 Bipartite talus semapv:UnspecifiedMatching MONDO:0018228 bipartite talus skos:exactMatch SCTID:763128009 semapv:UnspecifiedMatching MONDO:0018228 bipartite talus skos:exactMatch UMLS:C4706298 semapv:UnspecifiedMatching MONDO:0018229 Stevens-Johnson syndrome skos:exactMatch DOID:0050426 Stevens-Johnson syndrome semapv:UnspecifiedMatching MONDO:0018229 Stevens-Johnson syndrome skos:exactMatch EFO:0004276 semapv:UnspecifiedMatching MONDO:0018229 Stevens-Johnson syndrome skos:exactMatch ICD10CM:L51.1 Stevens-Johnson syndrome semapv:UnspecifiedMatching MONDO:0018229 Stevens-Johnson syndrome skos:exactMatch MEDGEN:20955 semapv:UnspecifiedMatching MONDO:0018229 Stevens-Johnson syndrome skos:exactMatch NCIT:C79484 Stevens-Johnson Syndrome semapv:UnspecifiedMatching MONDO:0018229 Stevens-Johnson syndrome skos:exactMatch OMIM:608579 severe cutaneous adverse reaction, susceptibility to semapv:UnspecifiedMatching MONDO:0018229 Stevens-Johnson syndrome skos:exactMatch Orphanet:36426 Stevens-Johnson syndrome semapv:UnspecifiedMatching MONDO:0018229 Stevens-Johnson syndrome skos:exactMatch SCTID:73442001 semapv:UnspecifiedMatching MONDO:0018229 Stevens-Johnson syndrome skos:exactMatch UMLS:C0038325 semapv:UnspecifiedMatching MONDO:0018229 Stevens-Johnson syndrome skos:exactMatch icd11.foundation:450167795 Stevens-Johnson syndrome semapv:UnspecifiedMatching MONDO:0018229 Stevens-Johnson syndrome skos:exactMatch mesh:D013262 semapv:UnspecifiedMatching MONDO:0018230 skeletal dysplasia skos:exactMatch MEDGEN:98053 semapv:UnspecifiedMatching MONDO:0018230 skeletal dysplasia skos:exactMatch Orphanet:364526 Primary bone dysplasia semapv:UnspecifiedMatching MONDO:0018230 skeletal dysplasia skos:exactMatch UMLS:C0410528 semapv:UnspecifiedMatching MONDO:0018231 obsolete primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments skos:exactMatch Orphanet:364531 Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments semapv:UnspecifiedMatching MONDO:0018232 obsolete primary bone dysplasia with micromelia skos:exactMatch Orphanet:364536 Primary bone dysplasia with micromelia semapv:UnspecifiedMatching MONDO:0018233 otopalatodigital syndrome spectrum disorder skos:exactMatch DOID:0111782 otopalatodigital syndrome spectrum disorder semapv:UnspecifiedMatching MONDO:0018233 otopalatodigital syndrome spectrum disorder skos:exactMatch MEDGEN:411701 semapv:UnspecifiedMatching MONDO:0018233 otopalatodigital syndrome spectrum disorder skos:exactMatch Orphanet:364541 Otopalatodigital syndrome spectrum disorder semapv:UnspecifiedMatching MONDO:0018233 otopalatodigital syndrome spectrum disorder skos:exactMatch UMLS:C2748918 semapv:UnspecifiedMatching MONDO:0018234 dysostosis skos:exactMatch DOID:1934 dysostosis semapv:UnspecifiedMatching MONDO:0018234 dysostosis skos:exactMatch MEDGEN:4430 semapv:UnspecifiedMatching MONDO:0018234 dysostosis skos:exactMatch NCIT:C34560 Dysostosis semapv:UnspecifiedMatching MONDO:0018234 dysostosis skos:exactMatch Orphanet:364559 Dysostosis semapv:UnspecifiedMatching MONDO:0018234 dysostosis skos:exactMatch SCTID:109420003 semapv:UnspecifiedMatching MONDO:0018234 dysostosis skos:exactMatch UMLS:C0013393 semapv:UnspecifiedMatching MONDO:0018234 dysostosis skos:exactMatch mesh:D004413 semapv:UnspecifiedMatching MONDO:0018235 obsolete dysostosis with limb anomaly as a major feature skos:exactMatch Orphanet:364568 Dysostosis with limb anomaly as a major feature semapv:UnspecifiedMatching MONDO:0018236 obsolete dysostosis with limb and face anomalies as a major feature skos:exactMatch Orphanet:364571 Dysostosis with limb and face anomalies as a major feature semapv:UnspecifiedMatching MONDO:0018237 acrofacial dysostosis skos:exactMatch DOID:0060379 acrofacial dysostosis semapv:UnspecifiedMatching MONDO:0018237 acrofacial dysostosis skos:exactMatch MEDGEN:272278 semapv:UnspecifiedMatching MONDO:0018237 acrofacial dysostosis skos:exactMatch NCIT:C35795 Acrofacial Dysostosis semapv:UnspecifiedMatching MONDO:0018237 acrofacial dysostosis skos:exactMatch Orphanet:364574 Acrofacial dysostosis semapv:UnspecifiedMatching MONDO:0018237 acrofacial dysostosis skos:exactMatch UMLS:C1332140 semapv:UnspecifiedMatching MONDO:0018237 acrofacial dysostosis skos:exactMatch icd11.foundation:1702160042 Acrofacial dysostoses semapv:UnspecifiedMatching MONDO:0018239 obsolete aggrecan-related bone disorder skos:exactMatch Orphanet:364817 OBSOLETE: Aggrecan-related bone disorder semapv:UnspecifiedMatching MONDO:0018240 TRPV4-related bone disorder skos:exactMatch MEDGEN:1842686 semapv:UnspecifiedMatching MONDO:0018240 TRPV4-related bone disorder skos:exactMatch Orphanet:364820 TRPV4-related bone disorder semapv:UnspecifiedMatching MONDO:0018240 TRPV4-related bone disorder skos:exactMatch UMLS:C5680977 semapv:UnspecifiedMatching MONDO:0018241 obsolete primary short bowel syndrome skos:exactMatch Orphanet:365563 Primary short bowel syndrome semapv:UnspecifiedMatching MONDO:0018242 autoimmune hypoparathyroidism skos:exactMatch MEDGEN:488838 semapv:UnspecifiedMatching MONDO:0018242 autoimmune hypoparathyroidism skos:exactMatch Orphanet:36913 Autoimmune hypoparathyroidism semapv:UnspecifiedMatching MONDO:0018242 autoimmune hypoparathyroidism skos:exactMatch SCTID:75316000 semapv:UnspecifiedMatching MONDO:0018242 autoimmune hypoparathyroidism skos:exactMatch UMLS:C0271865 semapv:UnspecifiedMatching MONDO:0018242 autoimmune hypoparathyroidism skos:exactMatch icd11.foundation:1790437089 Autoimmune hypoparathyroidism semapv:UnspecifiedMatching MONDO:0018243 intellectual disability-hyperkinetic movement-truncal ataxia syndrome skos:exactMatch MEDGEN:1683856 semapv:UnspecifiedMatching MONDO:0018243 intellectual disability-hyperkinetic movement-truncal ataxia syndrome skos:exactMatch Orphanet:369847 Intellectual disability-hyperkinetic movement-truncal ataxia syndrome semapv:UnspecifiedMatching MONDO:0018243 intellectual disability-hyperkinetic movement-truncal ataxia syndrome skos:exactMatch UMLS:C5192595 semapv:UnspecifiedMatching MONDO:0018244 obesity due to SIM1 deficiency skos:exactMatch MEDGEN:1680592 semapv:UnspecifiedMatching MONDO:0018244 obesity due to SIM1 deficiency skos:exactMatch Orphanet:369873 Obesity due to SIM1 deficiency semapv:UnspecifiedMatching MONDO:0018244 obesity due to SIM1 deficiency skos:exactMatch UMLS:C5191050 semapv:UnspecifiedMatching MONDO:0018245 2p21 microdeletion syndrome without cystinuria skos:exactMatch MEDGEN:1666351 semapv:UnspecifiedMatching MONDO:0018245 2p21 microdeletion syndrome without cystinuria skos:exactMatch Orphanet:369881 2p21 microdeletion syndrome without cystinuria semapv:UnspecifiedMatching MONDO:0018245 2p21 microdeletion syndrome without cystinuria skos:exactMatch UMLS:C4749458 semapv:UnspecifiedMatching MONDO:0018246 obsolete homozygous 2p21 microdeletion syndrome skos:exactMatch Orphanet:369886 Homozygous 2p21 microdeletion syndrome semapv:UnspecifiedMatching MONDO:0018247 CADDS skos:exactMatch Orphanet:369942 CADDS semapv:UnspecifiedMatching MONDO:0018248 intellectual disability-seizures-macrocephaly-obesity syndrome skos:exactMatch MEDGEN:1650833 semapv:UnspecifiedMatching MONDO:0018248 intellectual disability-seizures-macrocephaly-obesity syndrome skos:exactMatch Orphanet:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome semapv:UnspecifiedMatching MONDO:0018248 intellectual disability-seizures-macrocephaly-obesity syndrome skos:exactMatch UMLS:C4749455 semapv:UnspecifiedMatching MONDO:0018249 finger hyperphalangy - toe anomalies - severe pectus excavatum syndrome skos:exactMatch MEDGEN:1673147 semapv:UnspecifiedMatching MONDO:0018249 finger hyperphalangy - toe anomalies - severe pectus excavatum syndrome skos:exactMatch Orphanet:369979 Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome semapv:UnspecifiedMatching MONDO:0018249 finger hyperphalangy - toe anomalies - severe pectus excavatum syndrome skos:exactMatch UMLS:C5190599 semapv:UnspecifiedMatching MONDO:0018250 diffuse palmoplantar keratoderma with painful fissures skos:exactMatch MEDGEN:1660049 semapv:UnspecifiedMatching MONDO:0018250 diffuse palmoplantar keratoderma with painful fissures skos:exactMatch Orphanet:369999 Diffuse palmoplantar keratoderma with painful fissures semapv:UnspecifiedMatching MONDO:0018250 diffuse palmoplantar keratoderma with painful fissures skos:exactMatch UMLS:C4755309 semapv:UnspecifiedMatching MONDO:0018252 focal palmoplantar keratoderma with joint keratoses skos:exactMatch MEDGEN:1667811 semapv:UnspecifiedMatching MONDO:0018252 focal palmoplantar keratoderma with joint keratoses skos:exactMatch Orphanet:370002 Focal palmoplantar keratoderma with joint keratoses semapv:UnspecifiedMatching MONDO:0018252 focal palmoplantar keratoderma with joint keratoses skos:exactMatch UMLS:C4755302 semapv:UnspecifiedMatching MONDO:0018253 intellectual disability-facial dysmorphism-hand anomalies syndrome skos:exactMatch MEDGEN:1655582 semapv:UnspecifiedMatching MONDO:0018253 intellectual disability-facial dysmorphism-hand anomalies syndrome skos:exactMatch Orphanet:370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome semapv:UnspecifiedMatching MONDO:0018253 intellectual disability-facial dysmorphism-hand anomalies syndrome skos:exactMatch UMLS:C4750848 semapv:UnspecifiedMatching MONDO:0018254 spondyloepimetaphyseal dysplasia, Isidor type skos:exactMatch MEDGEN:1676518 semapv:UnspecifiedMatching MONDO:0018254 spondyloepimetaphyseal dysplasia, Isidor type skos:exactMatch Orphanet:370015 Spondyloepimetaphyseal dysplasia, Isidor-Toutain type semapv:UnspecifiedMatching MONDO:0018254 spondyloepimetaphyseal dysplasia, Isidor type skos:exactMatch UMLS:C5190629 semapv:UnspecifiedMatching MONDO:0018256 acute myeloid leukemia with t(8;16)(p11;p13) translocation skos:exactMatch DOID:0070630 acute myeloid leukemia with KAT6A-CREBBP fusion semapv:UnspecifiedMatching MONDO:0018256 acute myeloid leukemia with t(8;16)(p11;p13) translocation skos:exactMatch MEDGEN:1376688 semapv:UnspecifiedMatching MONDO:0018256 acute myeloid leukemia with t(8;16)(p11;p13) translocation skos:exactMatch NCIT:C200421 Acute Myeloid Leukemia with KAT6A-CREBBP semapv:UnspecifiedMatching MONDO:0018256 acute myeloid leukemia with t(8;16)(p11;p13) translocation skos:exactMatch Orphanet:370026 Acute myeloid leukemia with t(8;16)(p11;p13) translocation semapv:UnspecifiedMatching MONDO:0018256 acute myeloid leukemia with t(8;16)(p11;p13) translocation skos:exactMatch SCTID:725390002 semapv:UnspecifiedMatching MONDO:0018256 acute myeloid leukemia with t(8;16)(p11;p13) translocation skos:exactMatch UMLS:C4511003 semapv:UnspecifiedMatching MONDO:0018257 familial syringomyelia skos:exactMatch MEDGEN:1842994 semapv:UnspecifiedMatching MONDO:0018257 familial syringomyelia skos:exactMatch Orphanet:370034 Familial syringomyelia semapv:UnspecifiedMatching MONDO:0018257 familial syringomyelia skos:exactMatch UMLS:C5680970 semapv:UnspecifiedMatching MONDO:0018258 Angora hair nevus skos:exactMatch MEDGEN:1667925 semapv:UnspecifiedMatching MONDO:0018258 Angora hair nevus skos:exactMatch Orphanet:370039 Angora hair nevus semapv:UnspecifiedMatching MONDO:0018258 Angora hair nevus skos:exactMatch UMLS:C4751601 semapv:UnspecifiedMatching MONDO:0018259 didymosis aplasticosebacea skos:exactMatch MEDGEN:1650408 semapv:UnspecifiedMatching MONDO:0018259 didymosis aplasticosebacea skos:exactMatch Orphanet:370046 Didymosis aplasticosebacea semapv:UnspecifiedMatching MONDO:0018259 didymosis aplasticosebacea skos:exactMatch UMLS:C4751600 semapv:UnspecifiedMatching MONDO:0018260 scalp syndrome skos:exactMatch MEDGEN:1665599 semapv:UnspecifiedMatching MONDO:0018260 scalp syndrome skos:exactMatch Orphanet:370052 SCALP syndrome semapv:UnspecifiedMatching MONDO:0018260 scalp syndrome skos:exactMatch UMLS:C4751599 semapv:UnspecifiedMatching MONDO:0018261 Nevada syndrome skos:exactMatch MEDGEN:1667994 semapv:UnspecifiedMatching MONDO:0018261 Nevada syndrome skos:exactMatch Orphanet:370059 NEVADA syndrome semapv:UnspecifiedMatching MONDO:0018261 Nevada syndrome skos:exactMatch UMLS:C4751431 semapv:UnspecifiedMatching MONDO:0018262 obsolete fetal anticonvulsant syndrome skos:exactMatch Orphanet:370068 Fetal anticonvulsant syndrome semapv:UnspecifiedMatching MONDO:0018263 fetal carbamazepine syndrome skos:exactMatch MEDGEN:609479 semapv:UnspecifiedMatching MONDO:0018263 fetal carbamazepine syndrome skos:exactMatch Orphanet:370076 Fetal carbamazepine syndrome semapv:UnspecifiedMatching MONDO:0018263 fetal carbamazepine syndrome skos:exactMatch SCTID:254249002 semapv:UnspecifiedMatching MONDO:0018263 fetal carbamazepine syndrome skos:exactMatch UMLS:C0432370 semapv:UnspecifiedMatching MONDO:0018264 oculocutaneous albinism type 6 skos:exactMatch DOID:0080614 oculocutaneous albinism type VI semapv:UnspecifiedMatching MONDO:0018264 oculocutaneous albinism type 6 skos:exactMatch MEDGEN:811705 semapv:UnspecifiedMatching MONDO:0018264 oculocutaneous albinism type 6 skos:exactMatch OMIM:113750 albinism, oculocutaneous, type 6 semapv:UnspecifiedMatching MONDO:0018264 oculocutaneous albinism type 6 skos:exactMatch Orphanet:370097 Oculocutaneous albinism type 6 semapv:UnspecifiedMatching MONDO:0018264 oculocutaneous albinism type 6 skos:exactMatch SCTID:722058005 semapv:UnspecifiedMatching MONDO:0018264 oculocutaneous albinism type 6 skos:exactMatch UMLS:C3805375 semapv:UnspecifiedMatching MONDO:0018265 obsolete rare disorder with dystonia and other neurologic or systemic manifestation skos:exactMatch Orphanet:370106 Rare disorder with dystonia and other neurologic or systemic manifestation semapv:UnspecifiedMatching MONDO:0018266 ataxia - telangiectasia variant skos:exactMatch MEDGEN:406286 semapv:UnspecifiedMatching MONDO:0018266 ataxia - telangiectasia variant skos:exactMatch Orphanet:370109 Ataxia-telangiectasia variant semapv:UnspecifiedMatching MONDO:0018266 ataxia - telangiectasia variant skos:exactMatch UMLS:C1876175 semapv:UnspecifiedMatching MONDO:0018268 Medich giant platelet syndrome skos:exactMatch MEDGEN:931044 semapv:UnspecifiedMatching MONDO:0018268 Medich giant platelet syndrome skos:exactMatch Orphanet:370127 Medich giant platelet syndrome semapv:UnspecifiedMatching MONDO:0018268 Medich giant platelet syndrome skos:exactMatch SCTID:718554005 semapv:UnspecifiedMatching MONDO:0018268 Medich giant platelet syndrome skos:exactMatch UMLS:C4305375 semapv:UnspecifiedMatching MONDO:0018269 white platelet syndrome skos:exactMatch MEDGEN:419379 semapv:UnspecifiedMatching MONDO:0018269 white platelet syndrome skos:exactMatch Orphanet:370131 White platelet syndrome semapv:UnspecifiedMatching MONDO:0018269 white platelet syndrome skos:exactMatch SCTID:718553004 semapv:UnspecifiedMatching MONDO:0018269 white platelet syndrome skos:exactMatch UMLS:C2931293 semapv:UnspecifiedMatching MONDO:0018269 white platelet syndrome skos:exactMatch mesh:C536702 semapv:UnspecifiedMatching MONDO:0018270 extraskeletal Ewing sarcoma skos:exactMatch DOID:4232 extraosseous Ewing sarcoma semapv:UnspecifiedMatching MONDO:0018270 extraskeletal Ewing sarcoma skos:exactMatch MEDGEN:76053 semapv:UnspecifiedMatching MONDO:0018270 extraskeletal Ewing sarcoma skos:exactMatch NCIT:C7135 Extraskeletal Ewing Sarcoma semapv:UnspecifiedMatching MONDO:0018270 extraskeletal Ewing sarcoma skos:exactMatch Orphanet:370334 Extraskeletal Ewing sarcoma semapv:UnspecifiedMatching MONDO:0018270 extraskeletal Ewing sarcoma skos:exactMatch UMLS:C0279980 semapv:UnspecifiedMatching MONDO:0018270 extraskeletal Ewing sarcoma skos:exactMatch icd11.foundation:489162074 Extraosseous Ewing sarcoma semapv:UnspecifiedMatching MONDO:0018271 peripheral primitive neuroectodermal tumor skos:exactMatch MEDGEN:151926 semapv:UnspecifiedMatching MONDO:0018271 peripheral primitive neuroectodermal tumor skos:exactMatch NCIT:C9341 Peripheral Primitive Neuroectodermal Tumor semapv:UnspecifiedMatching MONDO:0018271 peripheral primitive neuroectodermal tumor skos:exactMatch Orphanet:370348 Peripheral primitive neuroectodermal tumor semapv:UnspecifiedMatching MONDO:0018271 peripheral primitive neuroectodermal tumor skos:exactMatch UMLS:C0684337 semapv:UnspecifiedMatching MONDO:0018273 XYLT1-congenital disorder of glycosylation skos:exactMatch MEDGEN:1659170 semapv:UnspecifiedMatching MONDO:0018273 XYLT1-congenital disorder of glycosylation skos:exactMatch Orphanet:370930 XYLT1-CDG semapv:UnspecifiedMatching MONDO:0018273 XYLT1-congenital disorder of glycosylation skos:exactMatch UMLS:C4750849 semapv:UnspecifiedMatching MONDO:0018274 GM3 synthase deficiency skos:exactMatch DOID:0060470 salt and pepper syndrome semapv:UnspecifiedMatching MONDO:0018274 GM3 synthase deficiency skos:exactMatch MEDGEN:323005 semapv:UnspecifiedMatching MONDO:0018274 GM3 synthase deficiency skos:exactMatch OMIM:609056 salt and pepper developmental regression syndrome semapv:UnspecifiedMatching MONDO:0018274 GM3 synthase deficiency skos:exactMatch Orphanet:370933 GM3 synthase deficiency semapv:UnspecifiedMatching MONDO:0018274 GM3 synthase deficiency skos:exactMatch SCTID:722762005 semapv:UnspecifiedMatching MONDO:0018274 GM3 synthase deficiency skos:exactMatch UMLS:C1836824 semapv:UnspecifiedMatching MONDO:0018276 muscular dystrophy-dystroglycanopathy skos:exactMatch DOID:0112374 muscular dystrophy-dystroglycanopathy semapv:UnspecifiedMatching MONDO:0018276 muscular dystrophy-dystroglycanopathy skos:exactMatch MEDGEN:1842215 semapv:UnspecifiedMatching MONDO:0018276 muscular dystrophy-dystroglycanopathy skos:exactMatch Orphanet:370953 Congenital muscular dystrophy due to dystroglycanopathy semapv:UnspecifiedMatching MONDO:0018276 muscular dystrophy-dystroglycanopathy skos:exactMatch UMLS:C5679911 semapv:UnspecifiedMatching MONDO:0018277 obsolete congenital muscular dystrophy with cerebellar involvement skos:exactMatch Orphanet:370959 Congenital muscular dystrophy with cerebellar involvement semapv:UnspecifiedMatching MONDO:0018278 congenital muscular dystrophy with intellectual disability skos:exactMatch MEDGEN:1683413 semapv:UnspecifiedMatching MONDO:0018278 congenital muscular dystrophy with intellectual disability skos:exactMatch Orphanet:370968 Congenital muscular dystrophy with intellectual disability semapv:UnspecifiedMatching MONDO:0018278 congenital muscular dystrophy with intellectual disability skos:exactMatch UMLS:C5190846 semapv:UnspecifiedMatching MONDO:0018280 muscle-eye-brain disease with bilateral multicystic leucodystrophy skos:exactMatch MEDGEN:1675257 semapv:UnspecifiedMatching MONDO:0018280 muscle-eye-brain disease with bilateral multicystic leucodystrophy skos:exactMatch Orphanet:370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy semapv:UnspecifiedMatching MONDO:0018280 muscle-eye-brain disease with bilateral multicystic leucodystrophy skos:exactMatch UMLS:C5191414 semapv:UnspecifiedMatching MONDO:0018281 congenital muscular dystrophy with hyperlaxity skos:exactMatch MEDGEN:1633415 semapv:UnspecifiedMatching MONDO:0018281 congenital muscular dystrophy with hyperlaxity skos:exactMatch Orphanet:371007 Congenital muscular dystrophy with hyperlaxity semapv:UnspecifiedMatching MONDO:0018281 congenital muscular dystrophy with hyperlaxity skos:exactMatch SCTID:763314009 semapv:UnspecifiedMatching MONDO:0018281 congenital muscular dystrophy with hyperlaxity skos:exactMatch UMLS:C4706389 semapv:UnspecifiedMatching MONDO:0018282 neuromuscular disease caused by qualitative or quantitative defects of alpha-dystroglycan skos:exactMatch MEDGEN:423526 semapv:UnspecifiedMatching MONDO:0018282 neuromuscular disease caused by qualitative or quantitative defects of alpha-dystroglycan skos:exactMatch Orphanet:371024 Qualitative or quantitative defects of alpha-dystroglycan semapv:UnspecifiedMatching MONDO:0018282 neuromuscular disease caused by qualitative or quantitative defects of alpha-dystroglycan skos:exactMatch UMLS:C2936406 semapv:UnspecifiedMatching MONDO:0018283 obsolete primary qualitative or quantitative defects of alpha-dystroglycan skos:exactMatch Orphanet:371040 Primary qualitative or quantitative defects of alpha-dystroglycan semapv:UnspecifiedMatching MONDO:0018284 obsolete congenital disorder of glycosylation with neurological involvement skos:exactMatch Orphanet:371047 Congenital disorder of glycosylation with neurological involvement semapv:UnspecifiedMatching MONDO:0018285 obsolete X-linked congenital disorder of glycosylation with intellectual disability as a major feature skos:exactMatch Orphanet:371054 OBSOLETE: X-linked congenital disorder of glycosylation with intellectual disability as a major feature semapv:UnspecifiedMatching MONDO:0018286 obsolete non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature skos:exactMatch Orphanet:371064 OBSOLETE: Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature semapv:UnspecifiedMatching MONDO:0018287 obsolete congenital disorder of glycosylation with epilepsy as a major feature skos:exactMatch Orphanet:371071 Congenital disorder of glycosylation with epilepsy as a major feature semapv:UnspecifiedMatching MONDO:0018288 obsolete congenital disorder of glycosylation with hepatic involvement skos:exactMatch Orphanet:371157 Congenital disorder of glycosylation with hepatic involvement semapv:UnspecifiedMatching MONDO:0018289 obsolete congenital disorder of glycosylation with dilated cardiomyopathy skos:exactMatch Orphanet:371176 Congenital disorder of glycosylation with dilated cardiomyopathy semapv:UnspecifiedMatching MONDO:0018290 obsolete congenital disorder of glycosylation with cardiac malformation as a major feature skos:exactMatch Orphanet:371183 Congenital disorder of glycosylation with cardiac malformation as a major feature semapv:UnspecifiedMatching MONDO:0018291 obsolete congenital disorder of glycosylation with intestinal involvement skos:exactMatch Orphanet:371188 Congenital disorder of glycosylation with intestinal involvement semapv:UnspecifiedMatching MONDO:0018292 obsolete congenital disorder of glycosylation-related bone disorder skos:exactMatch Orphanet:371195 Congenital disorder of glycosylation-related bone disorder semapv:UnspecifiedMatching MONDO:0018293 obsolete congenital disorder of glycosylation with skin involvement skos:exactMatch Orphanet:371200 Congenital disorder of glycosylation with skin involvement semapv:UnspecifiedMatching MONDO:0018294 obsolete congenital disorder of glycosylation with nephropathy as a major feature skos:exactMatch Orphanet:371207 Congenital disorder of glycosylation with nephropathy as a major feature semapv:UnspecifiedMatching MONDO:0018295 obsolete congenital disorder of glycosylation with deafness as a major feature skos:exactMatch Orphanet:371212 Congenital disorder of glycosylation with deafness as a major feature semapv:UnspecifiedMatching MONDO:0018296 obsolete congenital disorder of glycosylation with developmental anomaly skos:exactMatch Orphanet:371235 Congenital disorder of glycosylation with developmental anomaly semapv:UnspecifiedMatching MONDO:0018298 multicentric osteolysis-nodulosis-arthropathy spectrum skos:exactMatch MEDGEN:342428 semapv:UnspecifiedMatching MONDO:0018298 multicentric osteolysis-nodulosis-arthropathy spectrum skos:exactMatch Orphanet:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum semapv:UnspecifiedMatching MONDO:0018298 multicentric osteolysis-nodulosis-arthropathy spectrum skos:exactMatch SCTID:716868003 semapv:UnspecifiedMatching MONDO:0018298 multicentric osteolysis-nodulosis-arthropathy spectrum skos:exactMatch UMLS:C1850155 semapv:UnspecifiedMatching MONDO:0018299 obsolete sphingolipidosis with epilepsy skos:exactMatch Orphanet:371442 Sphingolipidosis with epilepsy semapv:UnspecifiedMatching MONDO:0018301 interstitial cystitis skos:exactMatch DOID:13949 interstitial cystitis semapv:UnspecifiedMatching MONDO:0018301 interstitial cystitis skos:exactMatch DOID:1678 chronic interstitial cystitis semapv:UnspecifiedMatching MONDO:0018301 interstitial cystitis skos:exactMatch EFO:0008507 semapv:UnspecifiedMatching MONDO:0018301 interstitial cystitis skos:exactMatch ICD10CM:N30.1 Interstitial cystitis (chronic) semapv:UnspecifiedMatching MONDO:0018301 interstitial cystitis skos:exactMatch MEDGEN:129176 semapv:UnspecifiedMatching MONDO:0018301 interstitial cystitis skos:exactMatch NCIT:C27189 Interstitial Cystitis semapv:UnspecifiedMatching MONDO:0018301 interstitial cystitis skos:exactMatch Orphanet:37202 Interstitial cystitis semapv:UnspecifiedMatching MONDO:0018301 interstitial cystitis skos:exactMatch SCTID:111409009 semapv:UnspecifiedMatching MONDO:0018301 interstitial cystitis skos:exactMatch SCTID:197834003 semapv:UnspecifiedMatching MONDO:0018301 interstitial cystitis skos:exactMatch UMLS:C0282488 semapv:UnspecifiedMatching MONDO:0018301 interstitial cystitis skos:exactMatch icd11.foundation:1650709285 Interstitial cystitis semapv:UnspecifiedMatching MONDO:0018301 interstitial cystitis skos:exactMatch mesh:D018856 semapv:UnspecifiedMatching MONDO:0018302 acquired kinky hair syndrome skos:exactMatch MEDGEN:537918 semapv:UnspecifiedMatching MONDO:0018302 acquired kinky hair syndrome skos:exactMatch Orphanet:37559 Acquired kinky hair syndrome semapv:UnspecifiedMatching MONDO:0018302 acquired kinky hair syndrome skos:exactMatch UMLS:C0263486 semapv:UnspecifiedMatching MONDO:0018304 Schnitzler syndrome skos:exactMatch DOID:4371 Schnitzler syndrome semapv:UnspecifiedMatching MONDO:0018304 Schnitzler syndrome skos:exactMatch EFO:1001165 semapv:UnspecifiedMatching MONDO:0018304 Schnitzler syndrome skos:exactMatch MEDGEN:141892 semapv:UnspecifiedMatching MONDO:0018304 Schnitzler syndrome skos:exactMatch Orphanet:37748 Schnitzler syndrome semapv:UnspecifiedMatching MONDO:0018304 Schnitzler syndrome skos:exactMatch SCTID:402415001 semapv:UnspecifiedMatching MONDO:0018304 Schnitzler syndrome skos:exactMatch UMLS:C0524988 semapv:UnspecifiedMatching MONDO:0018304 Schnitzler syndrome skos:exactMatch icd11.foundation:1867840545 Schnitzler syndrome semapv:UnspecifiedMatching MONDO:0018304 Schnitzler syndrome skos:exactMatch mesh:D019873 semapv:UnspecifiedMatching MONDO:0018305 chronic granulomatous disease skos:exactMatch DOID:3265 chronic granulomatous disease semapv:UnspecifiedMatching MONDO:0018305 chronic granulomatous disease skos:exactMatch MEDGEN:5377 semapv:UnspecifiedMatching MONDO:0018305 chronic granulomatous disease skos:exactMatch NCIT:C26788 Chronic Granulomatous Disease semapv:UnspecifiedMatching MONDO:0018305 chronic granulomatous disease skos:exactMatch OMIMPS:306400 Granulomatous disease, chronic semapv:UnspecifiedMatching MONDO:0018305 chronic granulomatous disease skos:exactMatch Orphanet:379 Chronic granulomatous disease semapv:UnspecifiedMatching MONDO:0018305 chronic granulomatous disease skos:exactMatch SCTID:387759001 semapv:UnspecifiedMatching MONDO:0018305 chronic granulomatous disease skos:exactMatch UMLS:C0018203 semapv:UnspecifiedMatching MONDO:0018305 chronic granulomatous disease skos:exactMatch icd11.foundation:1329764681 Chronic granulomatous disease semapv:UnspecifiedMatching MONDO:0018305 chronic granulomatous disease skos:exactMatch mesh:D006105 semapv:UnspecifiedMatching MONDO:0018306 Griscelli syndrome skos:exactMatch DOID:0060831 Griscelli syndrome semapv:UnspecifiedMatching MONDO:0018306 Griscelli syndrome skos:exactMatch MEDGEN:585090 semapv:UnspecifiedMatching MONDO:0018306 Griscelli syndrome skos:exactMatch OMIMPS:214450 Griscelli syndrome semapv:UnspecifiedMatching MONDO:0018306 Griscelli syndrome skos:exactMatch Orphanet:381 Griscelli syndrome semapv:UnspecifiedMatching MONDO:0018306 Griscelli syndrome skos:exactMatch SCTID:37548006 semapv:UnspecifiedMatching MONDO:0018306 Griscelli syndrome skos:exactMatch UMLS:C0398794 semapv:UnspecifiedMatching MONDO:0018307 neurodegeneration with brain iron accumulation skos:exactMatch DOID:0110734 neurodegeneration with brain iron accumulation semapv:UnspecifiedMatching MONDO:0018307 neurodegeneration with brain iron accumulation skos:exactMatch MEDGEN:444156 semapv:UnspecifiedMatching MONDO:0018307 neurodegeneration with brain iron accumulation skos:exactMatch OMIMPS:234200 Neurodegeneration with brain iron accumulation semapv:UnspecifiedMatching MONDO:0018307 neurodegeneration with brain iron accumulation skos:exactMatch Orphanet:385 Neurodegeneration with brain iron accumulation semapv:UnspecifiedMatching MONDO:0018307 neurodegeneration with brain iron accumulation skos:exactMatch UMLS:C2931845 semapv:UnspecifiedMatching MONDO:0018307 neurodegeneration with brain iron accumulation skos:exactMatch icd11.foundation:440483530 Neurodegeneration with brain iron accumulation semapv:UnspecifiedMatching MONDO:0018307 neurodegeneration with brain iron accumulation skos:exactMatch mesh:C538421 semapv:UnspecifiedMatching MONDO:0018308 liver mesenchymal hamartoma skos:exactMatch MEDGEN:232278 semapv:UnspecifiedMatching MONDO:0018308 liver mesenchymal hamartoma skos:exactMatch NCIT:C5751 Liver Mesenchymal Hamartoma semapv:UnspecifiedMatching MONDO:0018308 liver mesenchymal hamartoma skos:exactMatch Orphanet:386 Hepatic cystic hamartoma semapv:UnspecifiedMatching MONDO:0018308 liver mesenchymal hamartoma skos:exactMatch SCTID:715397000 semapv:UnspecifiedMatching MONDO:0018308 liver mesenchymal hamartoma skos:exactMatch UMLS:C1333971 semapv:UnspecifiedMatching MONDO:0018308 liver mesenchymal hamartoma skos:exactMatch icd11.foundation:1416010483 Hepatic cystic hamartoma semapv:UnspecifiedMatching MONDO:0018309 Hirschsprung disease skos:exactMatch DOID:10487 Hirschsprung's disease semapv:UnspecifiedMatching MONDO:0018309 Hirschsprung disease skos:exactMatch ICD10CM:Q43.1 Hirschsprung's disease semapv:UnspecifiedMatching MONDO:0018309 Hirschsprung disease skos:exactMatch MEDGEN:5559 semapv:UnspecifiedMatching MONDO:0018309 Hirschsprung disease skos:exactMatch NCIT:C34700 Hirschsprung Disease semapv:UnspecifiedMatching MONDO:0018309 Hirschsprung disease skos:exactMatch OMIMPS:142623 Hirschsprung disease semapv:UnspecifiedMatching MONDO:0018309 Hirschsprung disease skos:exactMatch Orphanet:388 Hirschsprung disease semapv:UnspecifiedMatching MONDO:0018309 Hirschsprung disease skos:exactMatch SCTID:204739008 semapv:UnspecifiedMatching MONDO:0018309 Hirschsprung disease skos:exactMatch UMLS:C0019569 semapv:UnspecifiedMatching MONDO:0018309 Hirschsprung disease skos:exactMatch icd11.foundation:1772690306 Hirschsprung disease semapv:UnspecifiedMatching MONDO:0018309 Hirschsprung disease skos:exactMatch mesh:D006627 semapv:UnspecifiedMatching MONDO:0018310 Langerhans cell histiocytosis skos:exactMatch DOID:2571 Langerhans-cell histiocytosis semapv:UnspecifiedMatching MONDO:0018310 Langerhans cell histiocytosis skos:exactMatch EFO:1000318 semapv:UnspecifiedMatching MONDO:0018310 Langerhans cell histiocytosis skos:exactMatch MEDGEN:5568 semapv:UnspecifiedMatching MONDO:0018310 Langerhans cell histiocytosis skos:exactMatch NCIT:C3107 Langerhans Cell Histiocytosis semapv:UnspecifiedMatching MONDO:0018310 Langerhans cell histiocytosis skos:exactMatch OMIM:604856 langerhans cell histiocytosis semapv:UnspecifiedMatching MONDO:0018310 Langerhans cell histiocytosis skos:exactMatch Orphanet:389 Langerhans cell histiocytosis semapv:UnspecifiedMatching MONDO:0018310 Langerhans cell histiocytosis skos:exactMatch SCTID:65399007 semapv:UnspecifiedMatching MONDO:0018310 Langerhans cell histiocytosis skos:exactMatch UMLS:C0019621 semapv:UnspecifiedMatching MONDO:0018310 Langerhans cell histiocytosis skos:exactMatch icd11.foundation:1388720498 semapv:UnspecifiedMatching MONDO:0018310 Langerhans cell histiocytosis skos:exactMatch icd11.foundation:216625985 Langerhans cell histiocytosis semapv:UnspecifiedMatching MONDO:0018311 acromelanosis skos:exactMatch MEDGEN:98038 semapv:UnspecifiedMatching MONDO:0018311 acromelanosis skos:exactMatch Orphanet:39 Acromelanosis semapv:UnspecifiedMatching MONDO:0018311 acromelanosis skos:exactMatch SCTID:239089006 semapv:UnspecifiedMatching MONDO:0018311 acromelanosis skos:exactMatch UMLS:C0406779 semapv:UnspecifiedMatching MONDO:0018312 histoplasmosis skos:exactMatch DOID:1731 histoplasmosis semapv:UnspecifiedMatching MONDO:0018312 histoplasmosis skos:exactMatch EFO:0007310 semapv:UnspecifiedMatching MONDO:0018312 histoplasmosis skos:exactMatch ICD10CM:B39 Histoplasmosis semapv:UnspecifiedMatching MONDO:0018312 histoplasmosis skos:exactMatch ICD10WHO:B39 Histoplasmosis semapv:UnspecifiedMatching MONDO:0018312 histoplasmosis skos:exactMatch MEDGEN:42468 semapv:UnspecifiedMatching MONDO:0018312 histoplasmosis skos:exactMatch NCIT:C77201 Histoplasmosis semapv:UnspecifiedMatching MONDO:0018312 histoplasmosis skos:exactMatch Orphanet:390 Histoplasmosis semapv:UnspecifiedMatching MONDO:0018312 histoplasmosis skos:exactMatch SCTID:12962009 semapv:UnspecifiedMatching MONDO:0018312 histoplasmosis skos:exactMatch UMLS:C0019655 semapv:UnspecifiedMatching MONDO:0018312 histoplasmosis skos:exactMatch icd11.foundation:1303003466 Histoplasmosis semapv:UnspecifiedMatching MONDO:0018312 histoplasmosis skos:exactMatch icd11.foundation:1553838370 Pulmonary histoplasmosis capsulati semapv:UnspecifiedMatching MONDO:0018312 histoplasmosis skos:exactMatch mesh:D006660 semapv:UnspecifiedMatching MONDO:0018314 infantile-onset mesial temporal lobe epilepsy with severe cognitive regression skos:exactMatch MEDGEN:1654958 semapv:UnspecifiedMatching MONDO:0018314 infantile-onset mesial temporal lobe epilepsy with severe cognitive regression skos:exactMatch Orphanet:391316 Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression semapv:UnspecifiedMatching MONDO:0018314 infantile-onset mesial temporal lobe epilepsy with severe cognitive regression skos:exactMatch UMLS:C4750853 semapv:UnspecifiedMatching MONDO:0018315 X-linked osteoporosis with fractures skos:exactMatch MEDGEN:1674557 semapv:UnspecifiedMatching MONDO:0018315 X-linked osteoporosis with fractures skos:exactMatch Orphanet:391330 X-linked osteoporosis with fractures semapv:UnspecifiedMatching MONDO:0018315 X-linked osteoporosis with fractures skos:exactMatch UMLS:C5190610 semapv:UnspecifiedMatching MONDO:0018316 fatal post-viral neurodegenerative disorder skos:exactMatch MEDGEN:1657472 semapv:UnspecifiedMatching MONDO:0018316 fatal post-viral neurodegenerative disorder skos:exactMatch Orphanet:391343 Fatal post-viral neurodegenerative disorder semapv:UnspecifiedMatching MONDO:0018316 fatal post-viral neurodegenerative disorder skos:exactMatch UMLS:C4751597 semapv:UnspecifiedMatching MONDO:0018317 growth retardation-mild developmental delay-chronic hepatitis syndrome skos:exactMatch MEDGEN:1654119 semapv:UnspecifiedMatching MONDO:0018317 growth retardation-mild developmental delay-chronic hepatitis syndrome skos:exactMatch Orphanet:391366 Growth retardation-mild developmental delay-chronic hepatitis syndrome semapv:UnspecifiedMatching MONDO:0018317 growth retardation-mild developmental delay-chronic hepatitis syndrome skos:exactMatch UMLS:C4751595 semapv:UnspecifiedMatching MONDO:0018318 obsolete disorder of asparagine metabolism skos:exactMatch Orphanet:391381 Disorder of asparagine metabolism semapv:UnspecifiedMatching MONDO:0018319 familial episodic pain syndrome skos:exactMatch DOID:0111728 familial episodic pain syndrome semapv:UnspecifiedMatching MONDO:0018319 familial episodic pain syndrome skos:exactMatch MEDGEN:1682682 semapv:UnspecifiedMatching MONDO:0018319 familial episodic pain syndrome skos:exactMatch OMIMPS:615040 Familial episodic pain syndrome semapv:UnspecifiedMatching MONDO:0018319 familial episodic pain syndrome skos:exactMatch Orphanet:391384 Familial episodic pain syndrome semapv:UnspecifiedMatching MONDO:0018319 familial episodic pain syndrome skos:exactMatch UMLS:C5190598 semapv:UnspecifiedMatching MONDO:0018320 primary microcephaly-mild intellectual disability-young-onset diabetes syndrome skos:exactMatch MEDGEN:1675765 semapv:UnspecifiedMatching MONDO:0018320 primary microcephaly-mild intellectual disability-young-onset diabetes syndrome skos:exactMatch Orphanet:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome semapv:UnspecifiedMatching MONDO:0018320 primary microcephaly-mild intellectual disability-young-onset diabetes syndrome skos:exactMatch UMLS:C5190597 semapv:UnspecifiedMatching MONDO:0018321 atypical juvenile parkinsonism skos:exactMatch MEDGEN:1380105 semapv:UnspecifiedMatching MONDO:0018321 atypical juvenile parkinsonism skos:exactMatch Orphanet:391411 Atypical juvenile parkinsonism semapv:UnspecifiedMatching MONDO:0018321 atypical juvenile parkinsonism skos:exactMatch SCTID:725146001 semapv:UnspecifiedMatching MONDO:0018321 atypical juvenile parkinsonism skos:exactMatch UMLS:C4510873 semapv:UnspecifiedMatching MONDO:0018322 HSD10 disease, infantile type skos:exactMatch MEDGEN:1843150 semapv:UnspecifiedMatching MONDO:0018322 HSD10 disease, infantile type skos:exactMatch Orphanet:391428 HSD10 disease, infantile type semapv:UnspecifiedMatching MONDO:0018322 HSD10 disease, infantile type skos:exactMatch UMLS:C5680025 semapv:UnspecifiedMatching MONDO:0018323 HSD10 disease, neonatal type skos:exactMatch MEDGEN:1842355 semapv:UnspecifiedMatching MONDO:0018323 HSD10 disease, neonatal type skos:exactMatch Orphanet:391457 HSD10 disease, neonatal type semapv:UnspecifiedMatching MONDO:0018323 HSD10 disease, neonatal type skos:exactMatch UMLS:C5680026 semapv:UnspecifiedMatching MONDO:0018324 adult-onset myasthenia gravis skos:exactMatch EFO:1001490 semapv:UnspecifiedMatching MONDO:0018324 adult-onset myasthenia gravis skos:exactMatch MEDGEN:1843050 semapv:UnspecifiedMatching MONDO:0018324 adult-onset myasthenia gravis skos:exactMatch Orphanet:391490 Adult-onset myasthenia gravis semapv:UnspecifiedMatching MONDO:0018324 adult-onset myasthenia gravis skos:exactMatch UMLS:C5680024 semapv:UnspecifiedMatching MONDO:0018325 juvenile myasthenia gravis skos:exactMatch MEDGEN:1842990 semapv:UnspecifiedMatching MONDO:0018325 juvenile myasthenia gravis skos:exactMatch Orphanet:391497 Juvenile myasthenia gravis semapv:UnspecifiedMatching MONDO:0018325 juvenile myasthenia gravis skos:exactMatch UMLS:C5680023 semapv:UnspecifiedMatching MONDO:0018326 transient neonatal myasthenia gravis skos:exactMatch ICD10CM:P94.0 Transient neonatal myasthenia gravis semapv:UnspecifiedMatching MONDO:0018326 transient neonatal myasthenia gravis skos:exactMatch MEDGEN:96918 semapv:UnspecifiedMatching MONDO:0018326 transient neonatal myasthenia gravis skos:exactMatch NCIT:C117308 Transient Neonatal Myasthenia Gravis semapv:UnspecifiedMatching MONDO:0018326 transient neonatal myasthenia gravis skos:exactMatch Orphanet:391504 Transient neonatal myasthenia gravis semapv:UnspecifiedMatching MONDO:0018326 transient neonatal myasthenia gravis skos:exactMatch UMLS:C0495465 semapv:UnspecifiedMatching MONDO:0018326 transient neonatal myasthenia gravis skos:exactMatch icd11.foundation:2096990223 Transient neonatal myasthenia gravis semapv:UnspecifiedMatching MONDO:0018327 glomus tumor skos:exactMatch DOID:2431 glomus tumor semapv:UnspecifiedMatching MONDO:0018327 glomus tumor skos:exactMatch MEDGEN:4903 semapv:UnspecifiedMatching MONDO:0018327 glomus tumor skos:exactMatch NCIT:C3060 Glomus Tumor semapv:UnspecifiedMatching MONDO:0018327 glomus tumor skos:exactMatch Orphanet:391651 Glomus tumor semapv:UnspecifiedMatching MONDO:0018327 glomus tumor skos:exactMatch SCTID:403969002 semapv:UnspecifiedMatching MONDO:0018327 glomus tumor skos:exactMatch UMLS:C0017653 semapv:UnspecifiedMatching MONDO:0018327 glomus tumor skos:exactMatch mesh:D005918 semapv:UnspecifiedMatching MONDO:0018328 homozygous familial hypercholesterolemia skos:exactMatch MEDGEN:575266 semapv:UnspecifiedMatching MONDO:0018328 homozygous familial hypercholesterolemia skos:exactMatch Orphanet:391665 Homozygous familial hypercholesterolemia semapv:UnspecifiedMatching MONDO:0018328 homozygous familial hypercholesterolemia skos:exactMatch SCTID:238078005 semapv:UnspecifiedMatching MONDO:0018328 homozygous familial hypercholesterolemia skos:exactMatch UMLS:C0342881 semapv:UnspecifiedMatching MONDO:0018328 homozygous familial hypercholesterolemia skos:exactMatch mesh:D000090542 semapv:UnspecifiedMatching MONDO:0018329 obsolete persistent combined dystonia skos:exactMatch Orphanet:391711 Persistent combined dystonia semapv:UnspecifiedMatching MONDO:0018330 mucinous adenocarcinoma of the appendix skos:exactMatch MEDGEN:317382 semapv:UnspecifiedMatching MONDO:0018330 mucinous adenocarcinoma of the appendix skos:exactMatch NCIT:C43558 Appendix Mucinous Adenocarcinoma semapv:UnspecifiedMatching MONDO:0018330 mucinous adenocarcinoma of the appendix skos:exactMatch Orphanet:391723 Mucinous adenocarcinoma of the appendix semapv:UnspecifiedMatching MONDO:0018330 mucinous adenocarcinoma of the appendix skos:exactMatch UMLS:C1706832 semapv:UnspecifiedMatching MONDO:0018330 mucinous adenocarcinoma of the appendix skos:exactMatch icd11.foundation:425095558 Mucinous adenocarcinoma of appendix semapv:UnspecifiedMatching MONDO:0018332 multiple acyl-CoA dehydrogenase deficiency, severe neonatal type skos:exactMatch MEDGEN:1842925 semapv:UnspecifiedMatching MONDO:0018332 multiple acyl-CoA dehydrogenase deficiency, severe neonatal type skos:exactMatch Orphanet:394529 Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type semapv:UnspecifiedMatching MONDO:0018332 multiple acyl-CoA dehydrogenase deficiency, severe neonatal type skos:exactMatch UMLS:C5680029 semapv:UnspecifiedMatching MONDO:0018333 multiple acyl-CoA dehydrogenase deficiency, mild type skos:exactMatch MEDGEN:1843108 semapv:UnspecifiedMatching MONDO:0018333 multiple acyl-CoA dehydrogenase deficiency, mild type skos:exactMatch Orphanet:394532 Multiple acyl-CoA dehydrogenase deficiency, mild type semapv:UnspecifiedMatching MONDO:0018333 multiple acyl-CoA dehydrogenase deficiency, mild type skos:exactMatch UMLS:C5680028 semapv:UnspecifiedMatching MONDO:0018334 chronic hiccup skos:exactMatch MEDGEN:900733 semapv:UnspecifiedMatching MONDO:0018334 chronic hiccup skos:exactMatch Orphanet:396 Chronic hiccup semapv:UnspecifiedMatching MONDO:0018334 chronic hiccup skos:exactMatch SCTID:716771000 semapv:UnspecifiedMatching MONDO:0018334 chronic hiccup skos:exactMatch UMLS:C0744898 semapv:UnspecifiedMatching MONDO:0018334 chronic hiccup skos:exactMatch icd11.foundation:1300687612 Chronic hiccups semapv:UnspecifiedMatching MONDO:0018336 obsolete Silver-Russell syndrome due to a point mutation skos:exactMatch Orphanet:397590 Silver-Russell syndrome due to a point mutation semapv:UnspecifiedMatching MONDO:0018338 activated PI3K-delta syndrome skos:exactMatch Orphanet:397596 Activated PI3K-delta syndrome semapv:UnspecifiedMatching MONDO:0018338 activated PI3K-delta syndrome skos:exactMatch SCTID:711480000 semapv:UnspecifiedMatching MONDO:0018338 activated PI3K-delta syndrome skos:exactMatch mesh:C585640 semapv:UnspecifiedMatching MONDO:0018339 PrP systemic amyloidosis skos:exactMatch MEDGEN:1377371 semapv:UnspecifiedMatching MONDO:0018339 PrP systemic amyloidosis skos:exactMatch Orphanet:397606 PrP systemic amyloidosis semapv:UnspecifiedMatching MONDO:0018339 PrP systemic amyloidosis skos:exactMatch SCTID:733422008 semapv:UnspecifiedMatching MONDO:0018339 PrP systemic amyloidosis skos:exactMatch UMLS:C4518776 semapv:UnspecifiedMatching MONDO:0018341 3q27.3 microdeletion syndrome skos:exactMatch MEDGEN:1651953 semapv:UnspecifiedMatching MONDO:0018341 3q27.3 microdeletion syndrome skos:exactMatch UMLS:C4749427 semapv:UnspecifiedMatching MONDO:0018342 Joubert syndrome with Jeune asphyxiating thoracic dystrophy skos:exactMatch MEDGEN:1371401 semapv:UnspecifiedMatching MONDO:0018342 Joubert syndrome with Jeune asphyxiating thoracic dystrophy skos:exactMatch Orphanet:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy semapv:UnspecifiedMatching MONDO:0018342 Joubert syndrome with Jeune asphyxiating thoracic dystrophy skos:exactMatch SCTID:733418003 semapv:UnspecifiedMatching MONDO:0018342 Joubert syndrome with Jeune asphyxiating thoracic dystrophy skos:exactMatch UMLS:C4518774 semapv:UnspecifiedMatching MONDO:0018343 periodic paralysis with later-onset distal motor neuropathy skos:exactMatch MEDGEN:1670241 semapv:UnspecifiedMatching MONDO:0018343 periodic paralysis with later-onset distal motor neuropathy skos:exactMatch Orphanet:397750 Periodic paralysis with later-onset distal motor neuropathy semapv:UnspecifiedMatching MONDO:0018343 periodic paralysis with later-onset distal motor neuropathy skos:exactMatch UMLS:C4751573 semapv:UnspecifiedMatching MONDO:0018344 obsolete periodic paralysis with transient compartment-like syndrome skos:exactMatch Orphanet:397755 Periodic paralysis with transient compartment-like syndrome semapv:UnspecifiedMatching MONDO:0018346 ferro-cerebro-cutaneous syndrome skos:exactMatch MEDGEN:1658844 semapv:UnspecifiedMatching MONDO:0018346 ferro-cerebro-cutaneous syndrome skos:exactMatch OMIM:301072 neurodevelopmental disorder with epilepsy and hemochromatosis semapv:UnspecifiedMatching MONDO:0018346 ferro-cerebro-cutaneous syndrome skos:exactMatch Orphanet:397922 Ferro-cerebro-cutaneous syndrome semapv:UnspecifiedMatching MONDO:0018346 ferro-cerebro-cutaneous syndrome skos:exactMatch UMLS:C4751570 semapv:UnspecifiedMatching MONDO:0018349 MAN1B1-congenital disorder of glycosylation skos:exactMatch MEDGEN:1375785 semapv:UnspecifiedMatching MONDO:0018349 MAN1B1-congenital disorder of glycosylation skos:exactMatch Orphanet:397941 MAN1B1-CDG semapv:UnspecifiedMatching MONDO:0018349 MAN1B1-congenital disorder of glycosylation skos:exactMatch SCTID:733450008 semapv:UnspecifiedMatching MONDO:0018349 MAN1B1-congenital disorder of glycosylation skos:exactMatch UMLS:C4518783 semapv:UnspecifiedMatching MONDO:0018352 squamous cell carcinoma of penis skos:exactMatch DOID:5518 penis squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0018352 squamous cell carcinoma of penis skos:exactMatch MEDGEN:116057 semapv:UnspecifiedMatching MONDO:0018352 squamous cell carcinoma of penis skos:exactMatch NCIT:C7729 Penile Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0018352 squamous cell carcinoma of penis skos:exactMatch Orphanet:398058 Squamous cell carcinoma of the penis semapv:UnspecifiedMatching MONDO:0018352 squamous cell carcinoma of penis skos:exactMatch SCTID:403468003 semapv:UnspecifiedMatching MONDO:0018352 squamous cell carcinoma of penis skos:exactMatch UMLS:C0238348 semapv:UnspecifiedMatching MONDO:0018352 squamous cell carcinoma of penis skos:exactMatch icd11.foundation:186592209 Squamous cell carcinoma of penis semapv:UnspecifiedMatching MONDO:0018353 refractory celiac disease skos:exactMatch EFO:0009266 semapv:UnspecifiedMatching MONDO:0018353 refractory celiac disease skos:exactMatch MEDGEN:1670595 semapv:UnspecifiedMatching MONDO:0018353 refractory celiac disease skos:exactMatch Orphanet:398063 Refractory celiac disease semapv:UnspecifiedMatching MONDO:0018353 refractory celiac disease skos:exactMatch UMLS:C4749333 semapv:UnspecifiedMatching MONDO:0018354 Prader-Willi-like syndrome skos:exactMatch MEDGEN:816207 semapv:UnspecifiedMatching MONDO:0018354 Prader-Willi-like syndrome skos:exactMatch Orphanet:398073 Prader-Willi-like syndrome semapv:UnspecifiedMatching MONDO:0018354 Prader-Willi-like syndrome skos:exactMatch UMLS:C3809877 semapv:UnspecifiedMatching MONDO:0018355 SIM1-related Prader-Willi-like syndrome skos:exactMatch MEDGEN:1802084 semapv:UnspecifiedMatching MONDO:0018355 SIM1-related Prader-Willi-like syndrome skos:exactMatch Orphanet:398079 SIM1-related Prader-Willi-like syndrome semapv:UnspecifiedMatching MONDO:0018355 SIM1-related Prader-Willi-like syndrome skos:exactMatch UMLS:C5680040 semapv:UnspecifiedMatching MONDO:0018356 secondary neonatal autoimmune disease skos:exactMatch MEDGEN:1842254 semapv:UnspecifiedMatching MONDO:0018356 secondary neonatal autoimmune disease skos:exactMatch Orphanet:398091 Secondary neonatal autoimmune disease semapv:UnspecifiedMatching MONDO:0018356 secondary neonatal autoimmune disease skos:exactMatch UMLS:C5680041 semapv:UnspecifiedMatching MONDO:0018357 neonatal antiphospholipid syndrome skos:exactMatch MEDGEN:1664921 semapv:UnspecifiedMatching MONDO:0018357 neonatal antiphospholipid syndrome skos:exactMatch Orphanet:398097 Neonatal antiphospholipid syndrome semapv:UnspecifiedMatching MONDO:0018357 neonatal antiphospholipid syndrome skos:exactMatch UMLS:C4751518 semapv:UnspecifiedMatching MONDO:0018358 neonatal autoimmune hemolytic anemia skos:exactMatch MEDGEN:1662969 semapv:UnspecifiedMatching MONDO:0018358 neonatal autoimmune hemolytic anemia skos:exactMatch Orphanet:398109 Neonatal autoimmune hemolytic anemia semapv:UnspecifiedMatching MONDO:0018358 neonatal autoimmune hemolytic anemia skos:exactMatch UMLS:C4751517 semapv:UnspecifiedMatching MONDO:0018359 neonatal dermatomyositis skos:exactMatch MEDGEN:1649267 semapv:UnspecifiedMatching MONDO:0018359 neonatal dermatomyositis skos:exactMatch Orphanet:398117 Neonatal dermatomyositis semapv:UnspecifiedMatching MONDO:0018359 neonatal dermatomyositis skos:exactMatch UMLS:C4751516 semapv:UnspecifiedMatching MONDO:0018360 neonatal lupus erythematosus skos:exactMatch EFO:0004537 semapv:UnspecifiedMatching MONDO:0018360 neonatal lupus erythematosus skos:exactMatch MEDGEN:98372 semapv:UnspecifiedMatching MONDO:0018360 neonatal lupus erythematosus skos:exactMatch NCIT:C99236 Neonatal Lupus Erythematosus semapv:UnspecifiedMatching MONDO:0018360 neonatal lupus erythematosus skos:exactMatch Orphanet:398124 Neonatal lupus erythematosus semapv:UnspecifiedMatching MONDO:0018360 neonatal lupus erythematosus skos:exactMatch SCTID:95609003 semapv:UnspecifiedMatching MONDO:0018360 neonatal lupus erythematosus skos:exactMatch UMLS:C0409979 semapv:UnspecifiedMatching MONDO:0018360 neonatal lupus erythematosus skos:exactMatch icd11.foundation:213855225 Neonatal lupus erythematosus semapv:UnspecifiedMatching MONDO:0018360 neonatal lupus erythematosus skos:exactMatch mesh:C536397 semapv:UnspecifiedMatching MONDO:0018361 neonatal scleroderma skos:exactMatch MEDGEN:1652107 semapv:UnspecifiedMatching MONDO:0018361 neonatal scleroderma skos:exactMatch Orphanet:398127 Neonatal scleroderma semapv:UnspecifiedMatching MONDO:0018361 neonatal scleroderma skos:exactMatch UMLS:C4509425 semapv:UnspecifiedMatching MONDO:0018362 persistent idiopathic facial pain skos:exactMatch ICD10CM:G50.1 Atypical facial pain semapv:UnspecifiedMatching MONDO:0018362 persistent idiopathic facial pain skos:exactMatch MEDGEN:1673850 semapv:UnspecifiedMatching MONDO:0018362 persistent idiopathic facial pain skos:exactMatch Orphanet:398147 Persistent idiopathic facial pain semapv:UnspecifiedMatching MONDO:0018362 persistent idiopathic facial pain skos:exactMatch UMLS:C5191641 semapv:UnspecifiedMatching MONDO:0018362 persistent idiopathic facial pain skos:exactMatch icd11.foundation:1799118131 Persistent idiopathic facial pain semapv:UnspecifiedMatching MONDO:0018363 focal facial dermal dysplasia skos:exactMatch MEDGEN:445408 semapv:UnspecifiedMatching MONDO:0018363 focal facial dermal dysplasia skos:exactMatch OMIMPS:136500 Focal facial dermal dysplasia semapv:UnspecifiedMatching MONDO:0018363 focal facial dermal dysplasia skos:exactMatch Orphanet:398166 Focal facial dermal dysplasia semapv:UnspecifiedMatching MONDO:0018363 focal facial dermal dysplasia skos:exactMatch UMLS:C2936827 semapv:UnspecifiedMatching MONDO:0018363 focal facial dermal dysplasia skos:exactMatch icd11.foundation:1200544726 Focal facial dermal dysplasia semapv:UnspecifiedMatching MONDO:0018363 focal facial dermal dysplasia skos:exactMatch mesh:C537068 semapv:UnspecifiedMatching MONDO:0018364 malignant epithelial tumor of ovary skos:exactMatch DOID:2151 malignant ovarian surface epithelial-stromal neoplasm semapv:UnspecifiedMatching MONDO:0018364 malignant epithelial tumor of ovary skos:exactMatch MEDGEN:577291 semapv:UnspecifiedMatching MONDO:0018364 malignant epithelial tumor of ovary skos:exactMatch NCIT:C40026 Malignant Ovarian Epithelial Tumor semapv:UnspecifiedMatching MONDO:0018364 malignant epithelial tumor of ovary skos:exactMatch Orphanet:398934 Malignant epithelial tumor of ovary semapv:UnspecifiedMatching MONDO:0018364 malignant epithelial tumor of ovary skos:exactMatch SCTID:254849005 semapv:UnspecifiedMatching MONDO:0018364 malignant epithelial tumor of ovary skos:exactMatch UMLS:C0346161 semapv:UnspecifiedMatching MONDO:0018364 malignant epithelial tumor of ovary skos:exactMatch mesh:C538090 semapv:UnspecifiedMatching MONDO:0018365 malignant non-epithelial tumor of ovary skos:exactMatch MEDGEN:1843209 semapv:UnspecifiedMatching MONDO:0018365 malignant non-epithelial tumor of ovary skos:exactMatch Orphanet:398940 Malignant non-epithelial tumor of ovary semapv:UnspecifiedMatching MONDO:0018365 malignant non-epithelial tumor of ovary skos:exactMatch UMLS:C5680039 semapv:UnspecifiedMatching MONDO:0018368 primary peritoneal serous/papillary carcinoma skos:exactMatch DOID:6228 peritoneal serous papillary adenocarcinoma semapv:UnspecifiedMatching MONDO:0018368 primary peritoneal serous/papillary carcinoma skos:exactMatch MEDGEN:237154 semapv:UnspecifiedMatching MONDO:0018368 primary peritoneal serous/papillary carcinoma skos:exactMatch NCIT:C7695 Primary Peritoneal Serous Papillary Adenocarcinoma semapv:UnspecifiedMatching MONDO:0018368 primary peritoneal serous/papillary carcinoma skos:exactMatch UMLS:C1368918 semapv:UnspecifiedMatching MONDO:0018369 immature ovarian teratoma skos:exactMatch DOID:6331 immature teratoma of ovary semapv:UnspecifiedMatching MONDO:0018369 immature ovarian teratoma skos:exactMatch MEDGEN:138044 semapv:UnspecifiedMatching MONDO:0018369 immature ovarian teratoma skos:exactMatch NCIT:C39995 Malignant Ovarian Teratoma semapv:UnspecifiedMatching MONDO:0018369 immature ovarian teratoma skos:exactMatch NCIT:C8111 Immature Ovarian Teratoma semapv:UnspecifiedMatching MONDO:0018369 immature ovarian teratoma skos:exactMatch Orphanet:398987 Malignant teratoma of ovary semapv:UnspecifiedMatching MONDO:0018369 immature ovarian teratoma skos:exactMatch SCTID:254871000 semapv:UnspecifiedMatching MONDO:0018369 immature ovarian teratoma skos:exactMatch UMLS:C0346182 semapv:UnspecifiedMatching MONDO:0018369 immature ovarian teratoma skos:exactMatch icd11.foundation:551209361 Malignant teratoma of ovary semapv:UnspecifiedMatching MONDO:0018370 KLHL9-related early-onset distal myopathy skos:exactMatch MEDGEN:1647584 semapv:UnspecifiedMatching MONDO:0018370 KLHL9-related early-onset distal myopathy skos:exactMatch Orphanet:399081 KLHL9-related early-onset distal myopathy semapv:UnspecifiedMatching MONDO:0018370 KLHL9-related early-onset distal myopathy skos:exactMatch SCTID:763776004 semapv:UnspecifiedMatching MONDO:0018370 KLHL9-related early-onset distal myopathy skos:exactMatch UMLS:C4706574 semapv:UnspecifiedMatching MONDO:0018371 nebulin-related early-onset distal myopathy skos:exactMatch MEDGEN:1677937 semapv:UnspecifiedMatching MONDO:0018371 nebulin-related early-onset distal myopathy skos:exactMatch Orphanet:399103 Distal nebulin myopathy semapv:UnspecifiedMatching MONDO:0018371 nebulin-related early-onset distal myopathy skos:exactMatch UMLS:C5190827 semapv:UnspecifiedMatching MONDO:0018373 avascular necrosis skos:exactMatch MEDGEN:10200 semapv:UnspecifiedMatching MONDO:0018373 avascular necrosis skos:exactMatch NCIT:C34841 Avascular Necrosis of Bone semapv:UnspecifiedMatching MONDO:0018373 avascular necrosis skos:exactMatch Orphanet:399164 Avascular necrosis semapv:UnspecifiedMatching MONDO:0018373 avascular necrosis skos:exactMatch SCTID:397758007 semapv:UnspecifiedMatching MONDO:0018373 avascular necrosis skos:exactMatch UMLS:C0027543 semapv:UnspecifiedMatching MONDO:0018374 secondary avascular necrosis skos:exactMatch MEDGEN:1842971 semapv:UnspecifiedMatching MONDO:0018374 secondary avascular necrosis skos:exactMatch Orphanet:399169 Secondary avascular necrosis semapv:UnspecifiedMatching MONDO:0018374 secondary avascular necrosis skos:exactMatch UMLS:C5680036 semapv:UnspecifiedMatching MONDO:0018375 traumatic avascular necrosis skos:exactMatch MEDGEN:1802844 semapv:UnspecifiedMatching MONDO:0018375 traumatic avascular necrosis skos:exactMatch Orphanet:399175 Traumatic avascular necrosis semapv:UnspecifiedMatching MONDO:0018375 traumatic avascular necrosis skos:exactMatch UMLS:C5680037 semapv:UnspecifiedMatching MONDO:0018375 traumatic avascular necrosis skos:exactMatch icd11.foundation:822486319 Osteonecrosis due to trauma semapv:UnspecifiedMatching MONDO:0018376 secondary non-traumatic avascular necrosis skos:exactMatch MEDGEN:1684106 semapv:UnspecifiedMatching MONDO:0018376 secondary non-traumatic avascular necrosis skos:exactMatch Orphanet:399180 Secondary non-traumatic avascular necrosis semapv:UnspecifiedMatching MONDO:0018376 secondary non-traumatic avascular necrosis skos:exactMatch UMLS:C5192430 semapv:UnspecifiedMatching MONDO:0018377 obsolete rare hereditary disease with avascular necrosis skos:exactMatch Orphanet:399185 Rare hereditary disease with avascular necrosis semapv:UnspecifiedMatching MONDO:0018378 osteonecrosis of the jaw skos:exactMatch MEDGEN:751019 semapv:UnspecifiedMatching MONDO:0018378 osteonecrosis of the jaw skos:exactMatch NCIT:C63924 Osteonecrosis of Jaw semapv:UnspecifiedMatching MONDO:0018378 osteonecrosis of the jaw skos:exactMatch Orphanet:399293 Osteonecrosis of the jaw semapv:UnspecifiedMatching MONDO:0018378 osteonecrosis of the jaw skos:exactMatch SCTID:441809006 semapv:UnspecifiedMatching MONDO:0018378 osteonecrosis of the jaw skos:exactMatch UMLS:C2711248 semapv:UnspecifiedMatching MONDO:0018379 primary avascular necrosis skos:exactMatch MEDGEN:1842421 semapv:UnspecifiedMatching MONDO:0018379 primary avascular necrosis skos:exactMatch Orphanet:399302 Primary avascular necrosis semapv:UnspecifiedMatching MONDO:0018379 primary avascular necrosis skos:exactMatch UMLS:C5680038 semapv:UnspecifiedMatching MONDO:0018380 idiopathic avascular necrosis skos:exactMatch MEDGEN:1805758 semapv:UnspecifiedMatching MONDO:0018380 idiopathic avascular necrosis skos:exactMatch Orphanet:399307 Idiopathic avascular necrosis semapv:UnspecifiedMatching MONDO:0018380 idiopathic avascular necrosis skos:exactMatch UMLS:C1404767 semapv:UnspecifiedMatching MONDO:0018380 idiopathic avascular necrosis skos:exactMatch icd11.foundation:551598148 Idiopathic aseptic osteonecrosis semapv:UnspecifiedMatching MONDO:0018381 osteochondrosis skos:exactMatch DOID:8125 osteochondrosis semapv:UnspecifiedMatching MONDO:0018381 osteochondrosis skos:exactMatch ICD10CM:M42 Spinal osteochondrosis semapv:UnspecifiedMatching MONDO:0018381 osteochondrosis skos:exactMatch MEDGEN:18216 semapv:UnspecifiedMatching MONDO:0018381 osteochondrosis skos:exactMatch NCIT:C34879 Osteochondrosis semapv:UnspecifiedMatching MONDO:0018381 osteochondrosis skos:exactMatch Orphanet:399319 Osteochondrosis semapv:UnspecifiedMatching MONDO:0018381 osteochondrosis skos:exactMatch SCTID:19579005 semapv:UnspecifiedMatching MONDO:0018381 osteochondrosis skos:exactMatch UMLS:C0029429 semapv:UnspecifiedMatching MONDO:0018381 osteochondrosis skos:exactMatch icd11.foundation:1446309782 Osteochondrosis or osteochondritis dissecans semapv:UnspecifiedMatching MONDO:0018381 osteochondrosis skos:exactMatch mesh:D055034 semapv:UnspecifiedMatching MONDO:0018382 epiphysiolysis of the hip skos:exactMatch ICD10CM:M93.0 Slipped upper femoral epiphysis (nontraumatic) semapv:UnspecifiedMatching MONDO:0018382 epiphysiolysis of the hip skos:exactMatch MEDGEN:57704 semapv:UnspecifiedMatching MONDO:0018382 epiphysiolysis of the hip skos:exactMatch OMIM:182260 slipped femoral capital epiphyses semapv:UnspecifiedMatching MONDO:0018382 epiphysiolysis of the hip skos:exactMatch Orphanet:399329 Epiphysiolysis of the hip semapv:UnspecifiedMatching MONDO:0018382 epiphysiolysis of the hip skos:exactMatch SCTID:26460006 semapv:UnspecifiedMatching MONDO:0018382 epiphysiolysis of the hip skos:exactMatch UMLS:C0149887 semapv:UnspecifiedMatching MONDO:0018382 epiphysiolysis of the hip skos:exactMatch mesh:D060048 semapv:UnspecifiedMatching MONDO:0018383 osteonecrosis of genetic origin skos:exactMatch MEDGEN:1842788 semapv:UnspecifiedMatching MONDO:0018383 osteonecrosis of genetic origin skos:exactMatch Orphanet:399380 Osteonecrosis of genetic origin semapv:UnspecifiedMatching MONDO:0018383 osteonecrosis of genetic origin skos:exactMatch UMLS:C5680035 semapv:UnspecifiedMatching MONDO:0018384 obsolete avascular necrosis of genetic origin skos:exactMatch Orphanet:399388 Avascular necrosis of genetic origin semapv:UnspecifiedMatching MONDO:0018385 obsolete osteochondrosis of genetic origin skos:exactMatch Orphanet:399391 Osteochondrosis of genetic origin semapv:UnspecifiedMatching MONDO:0018386 obsolete rare male infertility due to hypothalamic-pituitary-gonadal axis disorder skos:exactMatch Orphanet:399572 Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder semapv:UnspecifiedMatching MONDO:0018387 obsolete rare male infertility due to adrenal disorder skos:exactMatch Orphanet:399584 Rare male infertility due to adrenal disorder semapv:UnspecifiedMatching MONDO:0018388 obsolete rare male infertility due to testicular endocrine disorder skos:exactMatch Orphanet:399685 Rare male infertility due to testicular endocrine disorder semapv:UnspecifiedMatching MONDO:0018389 obsolete male infertility due to gonadal dysgenesis or sperm disorder skos:exactMatch Orphanet:399764 Male infertility due to gonadal dysgenesis or sperm disorder semapv:UnspecifiedMatching MONDO:0018390 obsolete male infertility due to sperm disorder skos:exactMatch Orphanet:399771 Male infertility due to sperm disorder semapv:UnspecifiedMatching MONDO:0018391 obsolete male infertility with spermatogenesis disorder skos:exactMatch Orphanet:399775 Male infertility with spermatogenesis disorder semapv:UnspecifiedMatching MONDO:0018392 obsolete male infertility with spermatogenesis disorder due to single gene mutation skos:exactMatch Orphanet:399786 Male infertility with spermatogenesis disorder due to single gene mutation semapv:UnspecifiedMatching MONDO:0018393 obsolete male infertility with azoospermia or oligozoospermia due to single gene mutation skos:exactMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:UnspecifiedMatching MONDO:0018394 male infertility with teratozoospermia due to single gene mutation skos:exactMatch MEDGEN:1643966 semapv:UnspecifiedMatching MONDO:0018394 male infertility with teratozoospermia due to single gene mutation skos:exactMatch Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation semapv:UnspecifiedMatching MONDO:0018394 male infertility with teratozoospermia due to single gene mutation skos:exactMatch SCTID:764096006 semapv:UnspecifiedMatching MONDO:0018394 male infertility with teratozoospermia due to single gene mutation skos:exactMatch UMLS:C4706677 semapv:UnspecifiedMatching MONDO:0018395 obsolete male infertility due to sperm motility disorder skos:exactMatch Orphanet:399813 Male infertility due to sperm motility disorder semapv:UnspecifiedMatching MONDO:0018396 obsolete rare male fertility disorder with obstructive azoospermia skos:exactMatch Orphanet:399824 Rare disorder with obstructive azoospermia semapv:UnspecifiedMatching MONDO:0018397 obsolete female infertility due to hypothalamic-pituitary-gonadal axis disorder skos:exactMatch Orphanet:399831 Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder semapv:UnspecifiedMatching MONDO:0018398 obsolete female infertility due to a congenital hypogonadotropic hypogonadism skos:exactMatch Orphanet:399839 Rare female infertility due to a congenital hypogonadotropic hypogonadism semapv:UnspecifiedMatching MONDO:0018400 obsolete rare female infertility due to an adrenal disorder skos:exactMatch Orphanet:399849 Rare female infertility due to an adrenal disorder semapv:UnspecifiedMatching MONDO:0018401 obsolete female infertility due to an anomaly of ovarian function skos:exactMatch Orphanet:399853 Rare female infertility due to an anomaly of ovarian function semapv:UnspecifiedMatching MONDO:0018402 obsolete female infertility due to gonadal dysgenesis skos:exactMatch Orphanet:399877 Rare female infertility due to gonadal dysgenesis semapv:UnspecifiedMatching MONDO:0018403 obsolete female infertility due to an implantation defect skos:exactMatch Orphanet:399882 Rare female infertility due to an implantation defect semapv:UnspecifiedMatching MONDO:0018404 obsolete rare genetic male infertility skos:exactMatch Orphanet:399980 Rare genetic male infertility semapv:UnspecifiedMatching MONDO:0018405 obsolete rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin skos:exactMatch Orphanet:399983 Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin semapv:UnspecifiedMatching MONDO:0018406 obsolete rare male infertility due to adrenal disorder of genetic origin skos:exactMatch Orphanet:399994 Rare male infertility due to adrenal disorder of genetic origin semapv:UnspecifiedMatching MONDO:0018407 obsolete male infertility due to obstructive azoospermia of genetic origin skos:exactMatch Orphanet:399998 Male infertility due to obstructive azoospermia of genetic origin semapv:UnspecifiedMatching MONDO:0018408 cystic echinococcosis skos:exactMatch DOID:1495 cystic echinococcosis semapv:UnspecifiedMatching MONDO:0018408 cystic echinococcosis skos:exactMatch MEDGEN:1639841 semapv:UnspecifiedMatching MONDO:0018408 cystic echinococcosis skos:exactMatch Orphanet:400 Cystic echinococcosis semapv:UnspecifiedMatching MONDO:0018408 cystic echinococcosis skos:exactMatch SCTID:721822004 semapv:UnspecifiedMatching MONDO:0018408 cystic echinococcosis skos:exactMatch UMLS:C4553297 semapv:UnspecifiedMatching MONDO:0018409 obsolete rare genetic disorder with obstructive azoospermia skos:exactMatch Orphanet:400003 Rare genetic disorder with obstructive azoospermia semapv:UnspecifiedMatching MONDO:0018410 obsolete rare genetic female infertility skos:exactMatch Orphanet:400008 Rare genetic female infertility semapv:UnspecifiedMatching MONDO:0018411 obsolete rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin skos:exactMatch Orphanet:400011 Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin semapv:UnspecifiedMatching MONDO:0018412 obsolete rare female infertility due to adrenal disorder of genetic origin skos:exactMatch Orphanet:400018 Rare female infertility due to adrenal disorder of genetic origin semapv:UnspecifiedMatching MONDO:0018413 obsolete female infertility due to an anomaly of ovarian function of genetic origin skos:exactMatch Orphanet:400022 Rare female infertility due to an anomaly of ovarian function of genetic origin semapv:UnspecifiedMatching MONDO:0018414 obsolete female infertility due to an implantation defect of genetic origin skos:exactMatch Orphanet:400025 Female infertility due to an implantation defect of genetic origin semapv:UnspecifiedMatching MONDO:0018416 autosomal recessive spastic paraplegia type 59 skos:exactMatch MEDGEN:1669596 semapv:UnspecifiedMatching MONDO:0018416 autosomal recessive spastic paraplegia type 59 skos:exactMatch Orphanet:401795 Autosomal recessive spastic paraplegia type 59 semapv:UnspecifiedMatching MONDO:0018416 autosomal recessive spastic paraplegia type 59 skos:exactMatch UMLS:C4750857 semapv:UnspecifiedMatching MONDO:0018417 autosomal recessive spastic paraplegia type 60 skos:exactMatch MEDGEN:1683240 semapv:UnspecifiedMatching MONDO:0018417 autosomal recessive spastic paraplegia type 60 skos:exactMatch Orphanet:401800 Autosomal recessive spastic paraplegia type 60 semapv:UnspecifiedMatching MONDO:0018417 autosomal recessive spastic paraplegia type 60 skos:exactMatch UMLS:C5190589 semapv:UnspecifiedMatching MONDO:0018418 autosomal recessive spastic paraplegia type 66 skos:exactMatch MEDGEN:1675102 semapv:UnspecifiedMatching MONDO:0018418 autosomal recessive spastic paraplegia type 66 skos:exactMatch Orphanet:401815 Autosomal recessive spastic paraplegia type 66 semapv:UnspecifiedMatching MONDO:0018418 autosomal recessive spastic paraplegia type 66 skos:exactMatch UMLS:C5190590 semapv:UnspecifiedMatching MONDO:0018419 autosomal recessive spastic paraplegia type 67 skos:exactMatch MEDGEN:1644708 semapv:UnspecifiedMatching MONDO:0018419 autosomal recessive spastic paraplegia type 67 skos:exactMatch Orphanet:401820 Autosomal recessive spastic paraplegia type 67 semapv:UnspecifiedMatching MONDO:0018419 autosomal recessive spastic paraplegia type 67 skos:exactMatch SCTID:766767001 semapv:UnspecifiedMatching MONDO:0018419 autosomal recessive spastic paraplegia type 67 skos:exactMatch UMLS:C4707829 semapv:UnspecifiedMatching MONDO:0018421 autosomal recessive spastic paraplegia type 69 skos:exactMatch MEDGEN:1679277 semapv:UnspecifiedMatching MONDO:0018421 autosomal recessive spastic paraplegia type 69 skos:exactMatch Orphanet:401830 Autosomal recessive spastic paraplegia type 69 semapv:UnspecifiedMatching MONDO:0018421 autosomal recessive spastic paraplegia type 69 skos:exactMatch UMLS:C5190577 semapv:UnspecifiedMatching MONDO:0018422 autosomal recessive spastic paraplegia type 70 skos:exactMatch DOID:0070454 hereditary spastic paraplegia 70 semapv:UnspecifiedMatching MONDO:0018422 autosomal recessive spastic paraplegia type 70 skos:exactMatch MEDGEN:1655287 semapv:UnspecifiedMatching MONDO:0018422 autosomal recessive spastic paraplegia type 70 skos:exactMatch OMIM:620323 spastic paraplegia 70, autosomal recessive semapv:UnspecifiedMatching MONDO:0018422 autosomal recessive spastic paraplegia type 70 skos:exactMatch Orphanet:401835 Autosomal recessive spastic paraplegia type 70 semapv:UnspecifiedMatching MONDO:0018422 autosomal recessive spastic paraplegia type 70 skos:exactMatch UMLS:C4749431 semapv:UnspecifiedMatching MONDO:0018423 autosomal recessive spastic paraplegia type 71 skos:exactMatch MEDGEN:1680976 semapv:UnspecifiedMatching MONDO:0018423 autosomal recessive spastic paraplegia type 71 skos:exactMatch Orphanet:401840 Autosomal recessive spastic paraplegia type 71 semapv:UnspecifiedMatching MONDO:0018423 autosomal recessive spastic paraplegia type 71 skos:exactMatch UMLS:C5190578 semapv:UnspecifiedMatching MONDO:0018424 inherited lipoic acid biosynthesis defect skos:exactMatch MEDGEN:1843250 semapv:UnspecifiedMatching MONDO:0018424 inherited lipoic acid biosynthesis defect skos:exactMatch Orphanet:401854 Lipoic acid biosynthesis defect semapv:UnspecifiedMatching MONDO:0018424 inherited lipoic acid biosynthesis defect skos:exactMatch UMLS:C5680006 semapv:UnspecifiedMatching MONDO:0018425 Huntington disease-like syndrome due to C9ORF72 expansions skos:exactMatch MEDGEN:1676144 semapv:UnspecifiedMatching MONDO:0018425 Huntington disease-like syndrome due to C9ORF72 expansions skos:exactMatch Orphanet:401901 Huntington disease-like syndrome due to C9ORF72 expansions semapv:UnspecifiedMatching MONDO:0018425 Huntington disease-like syndrome due to C9ORF72 expansions skos:exactMatch UMLS:C5190586 semapv:UnspecifiedMatching MONDO:0018426 AXIN2-related attenuated familial adenomatous polyposis skos:exactMatch MEDGEN:1826067 semapv:UnspecifiedMatching MONDO:0018426 AXIN2-related attenuated familial adenomatous polyposis skos:exactMatch Orphanet:401911 AXIN2-related polyposis semapv:UnspecifiedMatching MONDO:0018426 AXIN2-related attenuated familial adenomatous polyposis skos:exactMatch UMLS:C5680012 semapv:UnspecifiedMatching MONDO:0018428 9q31.1q31.3 microdeletion syndrome skos:exactMatch MEDGEN:1665719 semapv:UnspecifiedMatching MONDO:0018428 9q31.1q31.3 microdeletion syndrome skos:exactMatch Orphanet:401923 9q31.1q31.3 microdeletion syndrome semapv:UnspecifiedMatching MONDO:0018428 9q31.1q31.3 microdeletion syndrome skos:exactMatch UMLS:C4750910 semapv:UnspecifiedMatching MONDO:0018429 14q24.1q24.3 microdeletion syndrome skos:exactMatch MEDGEN:1668571 semapv:UnspecifiedMatching MONDO:0018429 14q24.1q24.3 microdeletion syndrome skos:exactMatch Orphanet:401935 14q24.1q24.3 microdeletion syndrome semapv:UnspecifiedMatching MONDO:0018429 14q24.1q24.3 microdeletion syndrome skos:exactMatch UMLS:C4750911 semapv:UnspecifiedMatching MONDO:0018430 partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome skos:exactMatch MEDGEN:1660429 semapv:UnspecifiedMatching MONDO:0018430 partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome skos:exactMatch Orphanet:401959 Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome semapv:UnspecifiedMatching MONDO:0018430 partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome skos:exactMatch UMLS:C4750913 semapv:UnspecifiedMatching MONDO:0018431 cold-induced sweating syndrome - hyperthermia spectrum skos:exactMatch MEDGEN:1842440 semapv:UnspecifiedMatching MONDO:0018431 cold-induced sweating syndrome - hyperthermia spectrum skos:exactMatch Orphanet:401993 Cold-induced sweating syndrome-hyperthermia spectrum semapv:UnspecifiedMatching MONDO:0018431 cold-induced sweating syndrome - hyperthermia spectrum skos:exactMatch UMLS:C5681139 semapv:UnspecifiedMatching MONDO:0018432 lichen myxedematosus skos:exactMatch MEDGEN:1848864 semapv:UnspecifiedMatching MONDO:0018432 lichen myxedematosus skos:exactMatch Orphanet:402007 Lichen myxedematosus semapv:UnspecifiedMatching MONDO:0018432 lichen myxedematosus skos:exactMatch SCTID:111197009 semapv:UnspecifiedMatching MONDO:0018432 lichen myxedematosus skos:exactMatch UMLS:C5848049 semapv:UnspecifiedMatching MONDO:0018433 acute myeloid leukemia with t(6;9)(p23;q34) skos:exactMatch MEDGEN:1376401 semapv:UnspecifiedMatching MONDO:0018433 acute myeloid leukemia with t(6;9)(p23;q34) skos:exactMatch Orphanet:402014 Acute myeloid leukemia with t(6;9)(p23;q34) semapv:UnspecifiedMatching MONDO:0018433 acute myeloid leukemia with t(6;9)(p23;q34) skos:exactMatch UMLS:C4518837 semapv:UnspecifiedMatching MONDO:0018434 acute myeloid leukemia with t(9;11)(p22;q23) skos:exactMatch MEDGEN:753997 semapv:UnspecifiedMatching MONDO:0018434 acute myeloid leukemia with t(9;11)(p22;q23) skos:exactMatch Orphanet:402017 Acute myeloid leukemia with t(9;11)(p22;q23) semapv:UnspecifiedMatching MONDO:0018434 acute myeloid leukemia with t(9;11)(p22;q23) skos:exactMatch UMLS:C2919692 semapv:UnspecifiedMatching MONDO:0018435 acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2) skos:exactMatch MEDGEN:415269 semapv:UnspecifiedMatching MONDO:0018435 acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2) skos:exactMatch NCIT:C82426 Acute Myeloid Leukemia with inv(3)(q21.3;q26.2) or t(3;3)(q21.3;q26.2); GATA2, MECOM semapv:UnspecifiedMatching MONDO:0018435 acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2) skos:exactMatch Orphanet:402020 Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2) semapv:UnspecifiedMatching MONDO:0018435 acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2) skos:exactMatch UMLS:C2826172 semapv:UnspecifiedMatching MONDO:0018436 megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) skos:exactMatch MEDGEN:1638466 semapv:UnspecifiedMatching MONDO:0018436 megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) skos:exactMatch Orphanet:402023 Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) semapv:UnspecifiedMatching MONDO:0018436 megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) skos:exactMatch SCTID:763796007 semapv:UnspecifiedMatching MONDO:0018436 megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) skos:exactMatch UMLS:C4706584 semapv:UnspecifiedMatching MONDO:0018437 acute myeloid leukemia with NPM1 somatic mutations skos:exactMatch MEDGEN:1633725 semapv:UnspecifiedMatching MONDO:0018437 acute myeloid leukemia with NPM1 somatic mutations skos:exactMatch Orphanet:402026 Acute myeloid leukemia with NPM1 somatic mutations semapv:UnspecifiedMatching MONDO:0018437 acute myeloid leukemia with NPM1 somatic mutations skos:exactMatch SCTID:763309005 semapv:UnspecifiedMatching MONDO:0018437 acute myeloid leukemia with NPM1 somatic mutations skos:exactMatch UMLS:C4706386 semapv:UnspecifiedMatching MONDO:0018438 eosinophilic gastrointestinal disease skos:exactMatch MEDGEN:1826142 semapv:UnspecifiedMatching MONDO:0018438 eosinophilic gastrointestinal disease skos:exactMatch Orphanet:402029 Primary eosinophilic gastrointestinal disease semapv:UnspecifiedMatching MONDO:0018438 eosinophilic gastrointestinal disease skos:exactMatch UMLS:C5680014 semapv:UnspecifiedMatching MONDO:0018439 eosinophilic colitis skos:exactMatch ICD10CM:K52.82 Eosinophilic colitis semapv:UnspecifiedMatching MONDO:0018439 eosinophilic colitis skos:exactMatch MEDGEN:75633 semapv:UnspecifiedMatching MONDO:0018439 eosinophilic colitis skos:exactMatch NCIT:C27053 Eosinophilic Colitis semapv:UnspecifiedMatching MONDO:0018439 eosinophilic colitis skos:exactMatch Orphanet:402035 Eosinophilic colitis semapv:UnspecifiedMatching MONDO:0018439 eosinophilic colitis skos:exactMatch SCTID:29120000 semapv:UnspecifiedMatching MONDO:0018439 eosinophilic colitis skos:exactMatch UMLS:C0267448 semapv:UnspecifiedMatching MONDO:0018439 eosinophilic colitis skos:exactMatch icd11.foundation:1169803773 Eosinophilic colitis semapv:UnspecifiedMatching MONDO:0018440 autosomal recessive distal renal tubular acidosis skos:exactMatch MEDGEN:351142 semapv:UnspecifiedMatching MONDO:0018440 autosomal recessive distal renal tubular acidosis skos:exactMatch Orphanet:402041 Autosomal recessive distal renal tubular acidosis semapv:UnspecifiedMatching MONDO:0018440 autosomal recessive distal renal tubular acidosis skos:exactMatch UMLS:C1864498 semapv:UnspecifiedMatching MONDO:0018442 acitretin/etretinate embryopathy skos:exactMatch MEDGEN:1386157 semapv:UnspecifiedMatching MONDO:0018442 acitretin/etretinate embryopathy skos:exactMatch Orphanet:40366 Acitretin/etretinate embryopathy semapv:UnspecifiedMatching MONDO:0018442 acitretin/etretinate embryopathy skos:exactMatch SCTID:725287006 semapv:UnspecifiedMatching MONDO:0018442 acitretin/etretinate embryopathy skos:exactMatch UMLS:C4510941 semapv:UnspecifiedMatching MONDO:0018442 acitretin/etretinate embryopathy skos:exactMatch mesh:C538169 semapv:UnspecifiedMatching MONDO:0018443 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome skos:exactMatch MEDGEN:1650412 semapv:UnspecifiedMatching MONDO:0018443 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome skos:exactMatch Orphanet:404451 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome semapv:UnspecifiedMatching MONDO:0018443 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome skos:exactMatch UMLS:C4751506 semapv:UnspecifiedMatching MONDO:0018444 obsolete female infertility due to fertilization defect skos:exactMatch Orphanet:404469 Rare female infertility due to oocyte maturation defect semapv:UnspecifiedMatching MONDO:0018445 global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome skos:exactMatch MEDGEN:1648360 semapv:UnspecifiedMatching MONDO:0018445 global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome skos:exactMatch OMIM:618272 global developmental delay, lung cysts, overgrowth, and wilms tumor semapv:UnspecifiedMatching MONDO:0018445 global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome skos:exactMatch Orphanet:404476 Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome semapv:UnspecifiedMatching MONDO:0018445 global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome skos:exactMatch UMLS:C4748924 semapv:UnspecifiedMatching MONDO:0018446 autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome skos:exactMatch MEDGEN:1843349 semapv:UnspecifiedMatching MONDO:0018446 autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome skos:exactMatch Orphanet:404481 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0018446 autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome skos:exactMatch UMLS:C5681145 semapv:UnspecifiedMatching MONDO:0018447 chondromyxoid fibroma skos:exactMatch EFO:0000332 semapv:UnspecifiedMatching MONDO:0018447 chondromyxoid fibroma skos:exactMatch MEDGEN:66375 semapv:UnspecifiedMatching MONDO:0018447 chondromyxoid fibroma skos:exactMatch NCIT:C3830 Chondromyxoid Fibroma semapv:UnspecifiedMatching MONDO:0018447 chondromyxoid fibroma skos:exactMatch Orphanet:404507 Chondromyxoid fibroma semapv:UnspecifiedMatching MONDO:0018447 chondromyxoid fibroma skos:exactMatch UMLS:C0221290 semapv:UnspecifiedMatching MONDO:0018448 clear cell papillary renal cell carcinoma skos:exactMatch MEDGEN:1388623 semapv:UnspecifiedMatching MONDO:0018448 clear cell papillary renal cell carcinoma skos:exactMatch NCIT:C121955 Clear Cell Papillary Renal Tumor semapv:UnspecifiedMatching MONDO:0018448 clear cell papillary renal cell carcinoma skos:exactMatch Orphanet:404511 Clear cell papillary renal cell carcinoma semapv:UnspecifiedMatching MONDO:0018448 clear cell papillary renal cell carcinoma skos:exactMatch SCTID:734015000 semapv:UnspecifiedMatching MONDO:0018448 clear cell papillary renal cell carcinoma skos:exactMatch UMLS:C4518333 semapv:UnspecifiedMatching MONDO:0018449 acquired cystic disease-associated renal cell carcinoma skos:exactMatch MEDGEN:1644241 semapv:UnspecifiedMatching MONDO:0018449 acquired cystic disease-associated renal cell carcinoma skos:exactMatch NCIT:C157718 Acquired Cystic Disease-Associated Renal Cell Carcinoma semapv:UnspecifiedMatching MONDO:0018449 acquired cystic disease-associated renal cell carcinoma skos:exactMatch Orphanet:404514 Acquired cystic disease-associated renal cell carcinoma semapv:UnspecifiedMatching MONDO:0018449 acquired cystic disease-associated renal cell carcinoma skos:exactMatch UMLS:C4707179 semapv:UnspecifiedMatching MONDO:0018450 spinal muscular atrophy with respiratory distress type 2 skos:exactMatch MEDGEN:1658540 semapv:UnspecifiedMatching MONDO:0018450 spinal muscular atrophy with respiratory distress type 2 skos:exactMatch Orphanet:404521 Spinal muscular atrophy with respiratory distress type 2 semapv:UnspecifiedMatching MONDO:0018450 spinal muscular atrophy with respiratory distress type 2 skos:exactMatch UMLS:C4749434 semapv:UnspecifiedMatching MONDO:0018451 obsolete X-linked distal hereditary motor neuropathy skos:exactMatch Orphanet:404538 X-linked distal hereditary motor neuropathy semapv:UnspecifiedMatching MONDO:0018453 familial atypical multiple mole melanoma syndrome skos:exactMatch MEDGEN:389220 semapv:UnspecifiedMatching MONDO:0018453 familial atypical multiple mole melanoma syndrome skos:exactMatch NCIT:C27264 Hereditary Atypical Mole Melanoma Syndrome semapv:UnspecifiedMatching MONDO:0018453 familial atypical multiple mole melanoma syndrome skos:exactMatch Orphanet:404560 Familial atypical multiple mole melanoma syndrome semapv:UnspecifiedMatching MONDO:0018453 familial atypical multiple mole melanoma syndrome skos:exactMatch UMLS:C2314896 semapv:UnspecifiedMatching MONDO:0018454 obsolete dysostosis of genetic origin skos:exactMatch Orphanet:404568 Dysostosis of genetic origin semapv:UnspecifiedMatching MONDO:0018455 obsolete dysostosis of genetic origin with limb anomaly as a major feature skos:exactMatch Orphanet:404571 Dysostosis of genetic origin with limb anomaly as a major feature semapv:UnspecifiedMatching MONDO:0018456 polyarticular juvenile idiopathic arthritis skos:exactMatch EFO:0009730 semapv:UnspecifiedMatching MONDO:0018456 polyarticular juvenile idiopathic arthritis skos:exactMatch MEDGEN:1622195 semapv:UnspecifiedMatching MONDO:0018456 polyarticular juvenile idiopathic arthritis skos:exactMatch Orphanet:404580 Polyarticular juvenile idiopathic arthritis semapv:UnspecifiedMatching MONDO:0018456 polyarticular juvenile idiopathic arthritis skos:exactMatch SCTID:16044751000119106 semapv:UnspecifiedMatching MONDO:0018456 polyarticular juvenile idiopathic arthritis skos:exactMatch UMLS:C4521004 semapv:UnspecifiedMatching MONDO:0018457 obsolete rare genetic bone development disorder skos:exactMatch Orphanet:404584 Rare genetic bone development disorder semapv:UnspecifiedMatching MONDO:0018458 familial hypocalciuric hypercalcemia skos:exactMatch DOID:0060699 familial hypocalciuric hypercalcemia semapv:UnspecifiedMatching MONDO:0018458 familial hypocalciuric hypercalcemia skos:exactMatch MEDGEN:369200 semapv:UnspecifiedMatching MONDO:0018458 familial hypocalciuric hypercalcemia skos:exactMatch NCIT:C123262 Familial Hypocalciuric Hypercalcemia semapv:UnspecifiedMatching MONDO:0018458 familial hypocalciuric hypercalcemia skos:exactMatch OMIMPS:145980 Hypocalciuric hypercalcemia semapv:UnspecifiedMatching MONDO:0018458 familial hypocalciuric hypercalcemia skos:exactMatch Orphanet:405 Familial hypocalciuric hypercalcemia semapv:UnspecifiedMatching MONDO:0018458 familial hypocalciuric hypercalcemia skos:exactMatch SCTID:237885008 semapv:UnspecifiedMatching MONDO:0018458 familial hypocalciuric hypercalcemia skos:exactMatch UMLS:C1809471 semapv:UnspecifiedMatching MONDO:0018458 familial hypocalciuric hypercalcemia skos:exactMatch icd11.foundation:81374726 Familial hypocalciuric hypercalcaemia semapv:UnspecifiedMatching MONDO:0018459 isolated glycerol kinase deficiency skos:exactMatch MEDGEN:657821 semapv:UnspecifiedMatching MONDO:0018459 isolated glycerol kinase deficiency skos:exactMatch Orphanet:408 Isolated glycerol kinase deficiency semapv:UnspecifiedMatching MONDO:0018459 isolated glycerol kinase deficiency skos:exactMatch UMLS:C0574108 semapv:UnspecifiedMatching MONDO:0018459 isolated glycerol kinase deficiency skos:exactMatch icd11.foundation:542432712 Isolated glycerol kinase deficiency semapv:UnspecifiedMatching MONDO:0018460 Eales disease skos:exactMatch MEDGEN:75733 semapv:UnspecifiedMatching MONDO:0018460 Eales disease skos:exactMatch Orphanet:40923 Eales disease semapv:UnspecifiedMatching MONDO:0018460 Eales disease skos:exactMatch SCTID:54122009 semapv:UnspecifiedMatching MONDO:0018460 Eales disease skos:exactMatch UMLS:C0271073 semapv:UnspecifiedMatching MONDO:0018460 Eales disease skos:exactMatch icd11.foundation:945788847 Eales disease semapv:UnspecifiedMatching MONDO:0018460 Eales disease skos:exactMatch mesh:C538011 semapv:UnspecifiedMatching MONDO:0018461 Angelman syndrome due to a point mutation skos:exactMatch MEDGEN:1842258 semapv:UnspecifiedMatching MONDO:0018461 Angelman syndrome due to a point mutation skos:exactMatch Orphanet:411511 Angelman syndrome due to a point mutation semapv:UnspecifiedMatching MONDO:0018461 Angelman syndrome due to a point mutation skos:exactMatch UMLS:C5681146 semapv:UnspecifiedMatching MONDO:0018462 Angelman syndrome due to imprinting defect in 15q11-q13 skos:exactMatch MEDGEN:1826135 semapv:UnspecifiedMatching MONDO:0018462 Angelman syndrome due to imprinting defect in 15q11-q13 skos:exactMatch Orphanet:411515 Angelman syndrome due to imprinting defect in 15q11-q13 semapv:UnspecifiedMatching MONDO:0018462 Angelman syndrome due to imprinting defect in 15q11-q13 skos:exactMatch UMLS:C5681834 semapv:UnspecifiedMatching MONDO:0018463 mild phosphoribosylpyrophosphate synthetase superactivity skos:exactMatch MEDGEN:1843112 semapv:UnspecifiedMatching MONDO:0018463 mild phosphoribosylpyrophosphate synthetase superactivity skos:exactMatch Orphanet:411536 Mild phosphoribosylpyrophosphate synthetase superactivity semapv:UnspecifiedMatching MONDO:0018463 mild phosphoribosylpyrophosphate synthetase superactivity skos:exactMatch UMLS:C5680016 semapv:UnspecifiedMatching MONDO:0018464 severe phosphoribosylpyrophosphate synthetase superactivity skos:exactMatch MEDGEN:1843045 semapv:UnspecifiedMatching MONDO:0018464 severe phosphoribosylpyrophosphate synthetase superactivity skos:exactMatch Orphanet:411543 Severe phosphoribosylpyrophosphate synthetase superactivity semapv:UnspecifiedMatching MONDO:0018464 severe phosphoribosylpyrophosphate synthetase superactivity skos:exactMatch UMLS:C5680017 semapv:UnspecifiedMatching MONDO:0018465 insulin autoimmune syndrome skos:exactMatch DOID:0040100 Hirata disease semapv:UnspecifiedMatching MONDO:0018465 insulin autoimmune syndrome skos:exactMatch MEDGEN:678528 semapv:UnspecifiedMatching MONDO:0018465 insulin autoimmune syndrome skos:exactMatch Orphanet:411593 Insulin autoimmune syndrome semapv:UnspecifiedMatching MONDO:0018465 insulin autoimmune syndrome skos:exactMatch SCTID:408539000 semapv:UnspecifiedMatching MONDO:0018465 insulin autoimmune syndrome skos:exactMatch UMLS:C0854359 semapv:UnspecifiedMatching MONDO:0018467 nephropathic infantile cystinosis skos:exactMatch MEDGEN:760976 semapv:UnspecifiedMatching MONDO:0018467 nephropathic infantile cystinosis skos:exactMatch Orphanet:411629 Infantile nephropathic cystinosis semapv:UnspecifiedMatching MONDO:0018467 nephropathic infantile cystinosis skos:exactMatch SCTID:62332007 semapv:UnspecifiedMatching MONDO:0018467 nephropathic infantile cystinosis skos:exactMatch UMLS:C3537440 semapv:UnspecifiedMatching MONDO:0018468 proton-pump inhibitor-responsive esophageal eosinophilia skos:exactMatch MEDGEN:1669432 semapv:UnspecifiedMatching MONDO:0018468 proton-pump inhibitor-responsive esophageal eosinophilia skos:exactMatch Orphanet:411696 Proton-pump inhibitor-responsive esophageal eosinophilia semapv:UnspecifiedMatching MONDO:0018468 proton-pump inhibitor-responsive esophageal eosinophilia skos:exactMatch UMLS:C4749332 semapv:UnspecifiedMatching MONDO:0018469 pulmonary non-tuberculous mycobacterial infection skos:exactMatch MEDGEN:758704 semapv:UnspecifiedMatching MONDO:0018469 pulmonary non-tuberculous mycobacterial infection skos:exactMatch Orphanet:411703 Pulmonary non-tuberculous mycobacterial infection semapv:UnspecifiedMatching MONDO:0018469 pulmonary non-tuberculous mycobacterial infection skos:exactMatch UMLS:C3472679 semapv:UnspecifiedMatching MONDO:0018469 pulmonary non-tuberculous mycobacterial infection skos:exactMatch icd11.foundation:1798822437 Pulmonary infection due to non-tuberculous mycobacterium semapv:UnspecifiedMatching MONDO:0018470 renal agenesis skos:exactMatch DOID:14766 renal agenesis semapv:UnspecifiedMatching MONDO:0018470 renal agenesis skos:exactMatch MEDGEN:154237 semapv:UnspecifiedMatching MONDO:0018470 renal agenesis skos:exactMatch NCIT:C99041 Renal Agenesis semapv:UnspecifiedMatching MONDO:0018470 renal agenesis skos:exactMatch OMIMPS:191830 Renal hypodysplasia/aplasia semapv:UnspecifiedMatching MONDO:0018470 renal agenesis skos:exactMatch Orphanet:411709 Renal agenesis semapv:UnspecifiedMatching MONDO:0018470 renal agenesis skos:exactMatch SCTID:204942005 semapv:UnspecifiedMatching MONDO:0018470 renal agenesis skos:exactMatch UMLS:C0542519 semapv:UnspecifiedMatching MONDO:0018470 renal agenesis skos:exactMatch icd11.foundation:683319223 Renal agenesis semapv:UnspecifiedMatching MONDO:0018471 generalized eruptive keratoacanthoma skos:exactMatch MEDGEN:577226 semapv:UnspecifiedMatching MONDO:0018471 generalized eruptive keratoacanthoma skos:exactMatch Orphanet:411777 Generalized eruptive keratoacanthoma semapv:UnspecifiedMatching MONDO:0018471 generalized eruptive keratoacanthoma skos:exactMatch SCTID:254664008 semapv:UnspecifiedMatching MONDO:0018471 generalized eruptive keratoacanthoma skos:exactMatch UMLS:C0345985 semapv:UnspecifiedMatching MONDO:0018472 familial isolated trichomegaly skos:exactMatch DOID:0111566 familial isolated trichomegaly semapv:UnspecifiedMatching MONDO:0018472 familial isolated trichomegaly skos:exactMatch MEDGEN:1639703 semapv:UnspecifiedMatching MONDO:0018472 familial isolated trichomegaly skos:exactMatch Orphanet:411788 Familial isolated trichomegaly semapv:UnspecifiedMatching MONDO:0018472 familial isolated trichomegaly skos:exactMatch SCTID:764523004 semapv:UnspecifiedMatching MONDO:0018472 familial isolated trichomegaly skos:exactMatch UMLS:C4706941 semapv:UnspecifiedMatching MONDO:0018472 familial isolated trichomegaly skos:exactMatch icd11.foundation:1611595637 Familial isolated trichomegaly semapv:UnspecifiedMatching MONDO:0018473 hyperlipoproteinemia type 3 skos:exactMatch DOID:3145 hyperlipoproteinemia type III semapv:UnspecifiedMatching MONDO:0018473 hyperlipoproteinemia type 3 skos:exactMatch MEDGEN:9364 semapv:UnspecifiedMatching MONDO:0018473 hyperlipoproteinemia type 3 skos:exactMatch OMIM:617347 hyperlipoproteinemia, type 3 semapv:UnspecifiedMatching MONDO:0018473 hyperlipoproteinemia type 3 skos:exactMatch Orphanet:412 Dysbetalipoproteinemia semapv:UnspecifiedMatching MONDO:0018473 hyperlipoproteinemia type 3 skos:exactMatch SCTID:398796005 semapv:UnspecifiedMatching MONDO:0018473 hyperlipoproteinemia type 3 skos:exactMatch UMLS:C0020479 semapv:UnspecifiedMatching MONDO:0018474 13q12.3 microdeletion syndrome skos:exactMatch MEDGEN:1657124 semapv:UnspecifiedMatching MONDO:0018474 13q12.3 microdeletion syndrome skos:exactMatch Orphanet:412035 13q12.3 microdeletion syndrome semapv:UnspecifiedMatching MONDO:0018474 13q12.3 microdeletion syndrome skos:exactMatch UMLS:C4750951 semapv:UnspecifiedMatching MONDO:0018475 PRKAR1B-related neurodegenerative dementia with intermediate filaments skos:exactMatch MEDGEN:1654800 semapv:UnspecifiedMatching MONDO:0018475 PRKAR1B-related neurodegenerative dementia with intermediate filaments skos:exactMatch Orphanet:412066 PRKAR1B-related neurodegenerative dementia with intermediate filaments semapv:UnspecifiedMatching MONDO:0018475 PRKAR1B-related neurodegenerative dementia with intermediate filaments skos:exactMatch UMLS:C4751505 semapv:UnspecifiedMatching MONDO:0018476 dystonia-aphonia syndrome skos:exactMatch MEDGEN:1675660 semapv:UnspecifiedMatching MONDO:0018476 dystonia-aphonia syndrome skos:exactMatch Orphanet:412217 Dystonia-aphonia syndrome semapv:UnspecifiedMatching MONDO:0018476 dystonia-aphonia syndrome skos:exactMatch UMLS:C5190573 semapv:UnspecifiedMatching MONDO:0018477 bilirubin encephalopathy skos:exactMatch DOID:2382 kernicterus semapv:UnspecifiedMatching MONDO:0018477 bilirubin encephalopathy skos:exactMatch ICD10CM:P57 Kernicterus semapv:UnspecifiedMatching MONDO:0018477 bilirubin encephalopathy skos:exactMatch MEDGEN:44018 semapv:UnspecifiedMatching MONDO:0018477 bilirubin encephalopathy skos:exactMatch NCIT:C84799 Kernicterus semapv:UnspecifiedMatching MONDO:0018477 bilirubin encephalopathy skos:exactMatch Orphanet:415286 Bilirubin encephalopathy semapv:UnspecifiedMatching MONDO:0018477 bilirubin encephalopathy skos:exactMatch SCTID:50143004 semapv:UnspecifiedMatching MONDO:0018477 bilirubin encephalopathy skos:exactMatch UMLS:C0022610 semapv:UnspecifiedMatching MONDO:0018477 bilirubin encephalopathy skos:exactMatch mesh:D007647 semapv:UnspecifiedMatching MONDO:0018479 congenital adrenal hyperplasia skos:exactMatch DOID:0050811 congenital adrenal hyperplasia semapv:UnspecifiedMatching MONDO:0018479 congenital adrenal hyperplasia skos:exactMatch MEDGEN:7900 semapv:UnspecifiedMatching MONDO:0018479 congenital adrenal hyperplasia skos:exactMatch NCIT:C34360 Congenital Adrenal Hyperplasia semapv:UnspecifiedMatching MONDO:0018479 congenital adrenal hyperplasia skos:exactMatch Orphanet:418 Congenital adrenal hyperplasia semapv:UnspecifiedMatching MONDO:0018479 congenital adrenal hyperplasia skos:exactMatch SCTID:237751000 semapv:UnspecifiedMatching MONDO:0018479 congenital adrenal hyperplasia skos:exactMatch UMLS:C0001627 semapv:UnspecifiedMatching MONDO:0018479 congenital adrenal hyperplasia skos:exactMatch icd11.foundation:172733763 Congenital adrenal hyperplasia semapv:UnspecifiedMatching MONDO:0018479 congenital adrenal hyperplasia skos:exactMatch mesh:D000312 semapv:UnspecifiedMatching MONDO:0018480 carcinoma of esophagus, salivary gland type skos:exactMatch MEDGEN:1678006 semapv:UnspecifiedMatching MONDO:0018480 carcinoma of esophagus, salivary gland type skos:exactMatch Orphanet:418945 Carcinoma of esophagus, salivary gland type semapv:UnspecifiedMatching MONDO:0018480 carcinoma of esophagus, salivary gland type skos:exactMatch UMLS:C5190854 semapv:UnspecifiedMatching MONDO:0018481 undifferentiated carcinoma of esophagus skos:exactMatch MEDGEN:412163 semapv:UnspecifiedMatching MONDO:0018481 undifferentiated carcinoma of esophagus skos:exactMatch NCIT:C27422 Esophageal Undifferentiated Carcinoma semapv:UnspecifiedMatching MONDO:0018481 undifferentiated carcinoma of esophagus skos:exactMatch Orphanet:418951 Undifferentiated carcinoma of esophagus semapv:UnspecifiedMatching MONDO:0018481 undifferentiated carcinoma of esophagus skos:exactMatch UMLS:C2188058 semapv:UnspecifiedMatching MONDO:0018483 secondary pulmonary alveolar proteinosis skos:exactMatch MEDGEN:845105 semapv:UnspecifiedMatching MONDO:0018483 secondary pulmonary alveolar proteinosis skos:exactMatch Orphanet:420259 Secondary pulmonary alveolar proteinosis semapv:UnspecifiedMatching MONDO:0018483 secondary pulmonary alveolar proteinosis skos:exactMatch SCTID:707510005 semapv:UnspecifiedMatching MONDO:0018483 secondary pulmonary alveolar proteinosis skos:exactMatch UMLS:C3873302 semapv:UnspecifiedMatching MONDO:0018483 secondary pulmonary alveolar proteinosis skos:exactMatch icd11.foundation:1480338606 Secondary pulmonary alveolar proteinosis semapv:UnspecifiedMatching MONDO:0018484 semicircular canal dehiscence syndrome skos:exactMatch DOID:0080193 superior semicircular canal dehiscence semapv:UnspecifiedMatching MONDO:0018484 semicircular canal dehiscence syndrome skos:exactMatch MEDGEN:1642474 semapv:UnspecifiedMatching MONDO:0018484 semicircular canal dehiscence syndrome skos:exactMatch Orphanet:420402 Semicircular canal dehiscence syndrome semapv:UnspecifiedMatching MONDO:0018484 semicircular canal dehiscence syndrome skos:exactMatch SCTID:717799003 semapv:UnspecifiedMatching MONDO:0018484 semicircular canal dehiscence syndrome skos:exactMatch UMLS:C4708600 semapv:UnspecifiedMatching MONDO:0018485 glycogen storage disease due to acid maltase deficiency, late-onset skos:exactMatch MEDGEN:575206 semapv:UnspecifiedMatching MONDO:0018485 glycogen storage disease due to acid maltase deficiency, late-onset skos:exactMatch OMIM:621314 pompe disease, late-onset semapv:UnspecifiedMatching MONDO:0018485 glycogen storage disease due to acid maltase deficiency, late-onset skos:exactMatch Orphanet:420429 Glycogen storage disease due to acid maltase deficiency, late-onset semapv:UnspecifiedMatching MONDO:0018485 glycogen storage disease due to acid maltase deficiency, late-onset skos:exactMatch SCTID:722343009 semapv:UnspecifiedMatching MONDO:0018485 glycogen storage disease due to acid maltase deficiency, late-onset skos:exactMatch UMLS:C0342753 semapv:UnspecifiedMatching MONDO:0018486 visual snow syndrome skos:exactMatch MEDGEN:1661883 semapv:UnspecifiedMatching MONDO:0018486 visual snow syndrome skos:exactMatch Orphanet:420556 Visual snow syndrome semapv:UnspecifiedMatching MONDO:0018486 visual snow syndrome skos:exactMatch UMLS:C4324662 semapv:UnspecifiedMatching MONDO:0018486 visual snow syndrome skos:exactMatch icd11.foundation:806322116 Visual snow syndrome semapv:UnspecifiedMatching MONDO:0018487 autosomal recessive severe congenital neutropenia due to CXCR2 deficiency skos:exactMatch MEDGEN:1682018 semapv:UnspecifiedMatching MONDO:0018487 autosomal recessive severe congenital neutropenia due to CXCR2 deficiency skos:exactMatch Orphanet:420699 Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency semapv:UnspecifiedMatching MONDO:0018487 autosomal recessive severe congenital neutropenia due to CXCR2 deficiency skos:exactMatch UMLS:C5190862 semapv:UnspecifiedMatching MONDO:0018488 obsolete rare genetic odontal or periodontal disorder skos:exactMatch Orphanet:420755 Rare genetic odontal or periodontal disorder semapv:UnspecifiedMatching MONDO:0018489 autoimmune encephalopathy with parasomnia and obstructive sleep apnea skos:exactMatch MEDGEN:1644256 semapv:UnspecifiedMatching MONDO:0018489 autoimmune encephalopathy with parasomnia and obstructive sleep apnea skos:exactMatch Orphanet:420789 Autoimmune encephalopathy with parasomnia and obstructive sleep apnea semapv:UnspecifiedMatching MONDO:0018489 autoimmune encephalopathy with parasomnia and obstructive sleep apnea skos:exactMatch SCTID:765751002 semapv:UnspecifiedMatching MONDO:0018489 autoimmune encephalopathy with parasomnia and obstructive sleep apnea skos:exactMatch UMLS:C4707562 semapv:UnspecifiedMatching MONDO:0018490 cono-spondylar dysplasia skos:exactMatch MEDGEN:1638945 semapv:UnspecifiedMatching MONDO:0018490 cono-spondylar dysplasia skos:exactMatch Orphanet:420794 Cono-spondylar dysplasia semapv:UnspecifiedMatching MONDO:0018490 cono-spondylar dysplasia skos:exactMatch SCTID:766874001 semapv:UnspecifiedMatching MONDO:0018490 cono-spondylar dysplasia skos:exactMatch UMLS:C4707860 semapv:UnspecifiedMatching MONDO:0018491 3-phosphoglycerate dehydrogenase deficiency skos:exactMatch MEDGEN:663158 semapv:UnspecifiedMatching MONDO:0018491 3-phosphoglycerate dehydrogenase deficiency skos:exactMatch SCTID:303098002 semapv:UnspecifiedMatching MONDO:0018491 3-phosphoglycerate dehydrogenase deficiency skos:exactMatch UMLS:C0580190 semapv:UnspecifiedMatching MONDO:0018491 3-phosphoglycerate dehydrogenase deficiency skos:exactMatch icd11.foundation:460538363 3-phosphoglycerate dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0018492 hereditary clear cell renal cell carcinoma skos:exactMatch DOID:7192 hereditary conventional renal cell carcinoma semapv:UnspecifiedMatching MONDO:0018492 hereditary clear cell renal cell carcinoma skos:exactMatch MEDGEN:234343 semapv:UnspecifiedMatching MONDO:0018492 hereditary clear cell renal cell carcinoma skos:exactMatch NCIT:C36260 Hereditary Clear Cell Renal Cell Carcinoma semapv:UnspecifiedMatching MONDO:0018492 hereditary clear cell renal cell carcinoma skos:exactMatch Orphanet:422526 Hereditary clear cell renal cell carcinoma semapv:UnspecifiedMatching MONDO:0018492 hereditary clear cell renal cell carcinoma skos:exactMatch SCTID:764961009 semapv:UnspecifiedMatching MONDO:0018492 hereditary clear cell renal cell carcinoma skos:exactMatch UMLS:C1333985 semapv:UnspecifiedMatching MONDO:0018493 malignant hyperthermia of anesthesia skos:exactMatch DOID:8545 malignant hyperthermia semapv:UnspecifiedMatching MONDO:0018493 malignant hyperthermia of anesthesia skos:exactMatch MEDGEN:9867 semapv:UnspecifiedMatching MONDO:0018493 malignant hyperthermia of anesthesia skos:exactMatch NCIT:C84869 Malignant Hyperthermia Syndrome semapv:UnspecifiedMatching MONDO:0018493 malignant hyperthermia of anesthesia skos:exactMatch Orphanet:423 Malignant hyperthermia of anesthesia semapv:UnspecifiedMatching MONDO:0018493 malignant hyperthermia of anesthesia skos:exactMatch SCTID:405501007 semapv:UnspecifiedMatching MONDO:0018493 malignant hyperthermia of anesthesia skos:exactMatch UMLS:C0024591 semapv:UnspecifiedMatching MONDO:0018493 malignant hyperthermia of anesthesia skos:exactMatch mesh:D008305 semapv:UnspecifiedMatching MONDO:0018494 microcephaly-short stature-intellectual disability-facial dysmorphism syndrome skos:exactMatch MEDGEN:1659920 semapv:UnspecifiedMatching MONDO:0018494 microcephaly-short stature-intellectual disability-facial dysmorphism syndrome skos:exactMatch Orphanet:423306 Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome semapv:UnspecifiedMatching MONDO:0018494 microcephaly-short stature-intellectual disability-facial dysmorphism syndrome skos:exactMatch UMLS:C4749647 semapv:UnspecifiedMatching MONDO:0018495 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome skos:exactMatch MEDGEN:1374000 semapv:UnspecifiedMatching MONDO:0018495 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome skos:exactMatch Orphanet:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency semapv:UnspecifiedMatching MONDO:0018495 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome skos:exactMatch UMLS:C4517296 semapv:UnspecifiedMatching MONDO:0018496 obsolete ARX-related encephalopathy-brain malformation spectrum skos:exactMatch Orphanet:423655 ARX-related encephalopathy-brain malformation spectrum semapv:UnspecifiedMatching MONDO:0018497 obsolete rare autonomic nervous system disorder skos:exactMatch Orphanet:423662 Rare autonomic nervous system disorder semapv:UnspecifiedMatching MONDO:0018498 double outlet right ventricle with subaortic or doubly committed ventricular septal defect skos:exactMatch MEDGEN:1843284 semapv:UnspecifiedMatching MONDO:0018498 double outlet right ventricle with subaortic or doubly committed ventricular septal defect skos:exactMatch Orphanet:423693 Double outlet right ventricle with subaortic or doubly committed ventricular septal defect semapv:UnspecifiedMatching MONDO:0018498 double outlet right ventricle with subaortic or doubly committed ventricular septal defect skos:exactMatch UMLS:C5680070 semapv:UnspecifiedMatching MONDO:0018499 double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy skos:exactMatch MEDGEN:1842277 semapv:UnspecifiedMatching MONDO:0018499 double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy skos:exactMatch Orphanet:423712 Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy semapv:UnspecifiedMatching MONDO:0018499 double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy skos:exactMatch UMLS:C5680071 semapv:UnspecifiedMatching MONDO:0018500 cutaneous larva migrans skos:exactMatch MEDGEN:107487 semapv:UnspecifiedMatching MONDO:0018500 cutaneous larva migrans skos:exactMatch Orphanet:423717 Cutaneous larva migrans semapv:UnspecifiedMatching MONDO:0018500 cutaneous larva migrans skos:exactMatch SCTID:19362000 semapv:UnspecifiedMatching MONDO:0018500 cutaneous larva migrans skos:exactMatch UMLS:C0546999 semapv:UnspecifiedMatching MONDO:0018500 cutaneous larva migrans skos:exactMatch icd11.foundation:657025682 Cutaneous larva migrans semapv:UnspecifiedMatching MONDO:0018500 cutaneous larva migrans skos:exactMatch mesh:D007815 semapv:UnspecifiedMatching MONDO:0018501 obsolete rare carcinoma of stomach skos:exactMatch Orphanet:423771 Rare carcinoma of stomach semapv:UnspecifiedMatching MONDO:0018502 hereditary gastric cancer skos:exactMatch MEDGEN:1843054 semapv:UnspecifiedMatching MONDO:0018502 hereditary gastric cancer skos:exactMatch Orphanet:423776 Hereditary gastric cancer semapv:UnspecifiedMatching MONDO:0018502 hereditary gastric cancer skos:exactMatch UMLS:C5680075 semapv:UnspecifiedMatching MONDO:0018504 undifferentiated carcinoma of stomach skos:exactMatch MEDGEN:237029 semapv:UnspecifiedMatching MONDO:0018504 undifferentiated carcinoma of stomach skos:exactMatch NCIT:C5476 Gastric Undifferentiated Carcinoma semapv:UnspecifiedMatching MONDO:0018504 undifferentiated carcinoma of stomach skos:exactMatch Orphanet:423786 Undifferentiated carcinoma of stomach semapv:UnspecifiedMatching MONDO:0018504 undifferentiated carcinoma of stomach skos:exactMatch SCTID:766757006 semapv:UnspecifiedMatching MONDO:0018504 undifferentiated carcinoma of stomach skos:exactMatch UMLS:C1336858 semapv:UnspecifiedMatching MONDO:0018505 obsolete rare tumor of small intestine skos:exactMatch Orphanet:423793 Rare tumor of small intestine semapv:UnspecifiedMatching MONDO:0018506 mesenchymal tumor of small intestine skos:exactMatch MEDGEN:1843104 semapv:UnspecifiedMatching MONDO:0018506 mesenchymal tumor of small intestine skos:exactMatch Orphanet:423798 Mesenchymal tumor of small intestine semapv:UnspecifiedMatching MONDO:0018506 mesenchymal tumor of small intestine skos:exactMatch UMLS:C5680077 semapv:UnspecifiedMatching MONDO:0018507 microcephaly-complex motor and sensory axonal neuropathy syndrome skos:exactMatch MEDGEN:1637079 semapv:UnspecifiedMatching MONDO:0018507 microcephaly-complex motor and sensory axonal neuropathy syndrome skos:exactMatch Orphanet:423894 Microcephaly-complex motor and sensory axonal neuropathy syndrome semapv:UnspecifiedMatching MONDO:0018507 microcephaly-complex motor and sensory axonal neuropathy syndrome skos:exactMatch UMLS:C4706585 semapv:UnspecifiedMatching MONDO:0018508 obsolete rare carcinoma of small intestine skos:exactMatch Orphanet:423957 Rare carcinoma of small intestine semapv:UnspecifiedMatching MONDO:0018509 squamous cell carcinoma of the small intestine skos:exactMatch MEDGEN:313711 semapv:UnspecifiedMatching MONDO:0018509 squamous cell carcinoma of the small intestine skos:exactMatch NCIT:C43534 Small Intestinal Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0018509 squamous cell carcinoma of the small intestine skos:exactMatch Orphanet:423968 Squamous cell carcinoma of the small intestine semapv:UnspecifiedMatching MONDO:0018509 squamous cell carcinoma of the small intestine skos:exactMatch UMLS:C1710111 semapv:UnspecifiedMatching MONDO:0018510 small intestine neuroendocrine neoplasm skos:exactMatch DOID:4434 small intestine neuroendocrine neoplasm semapv:UnspecifiedMatching MONDO:0018510 small intestine neuroendocrine neoplasm skos:exactMatch EFO:1001928 semapv:UnspecifiedMatching MONDO:0018510 small intestine neuroendocrine neoplasm skos:exactMatch MEDGEN:233453 semapv:UnspecifiedMatching MONDO:0018510 small intestine neuroendocrine neoplasm skos:exactMatch NCIT:C5803 Small Intestinal Neuroendocrine Neoplasm semapv:UnspecifiedMatching MONDO:0018510 small intestine neuroendocrine neoplasm skos:exactMatch Orphanet:423975 Neuroendocrine tumor of the small intestine semapv:UnspecifiedMatching MONDO:0018510 small intestine neuroendocrine neoplasm skos:exactMatch UMLS:C1336005 semapv:UnspecifiedMatching MONDO:0018511 epithelial tumor of the appendix skos:exactMatch MEDGEN:1842930 semapv:UnspecifiedMatching MONDO:0018511 epithelial tumor of the appendix skos:exactMatch Orphanet:423982 Epithelial tumor of the appendix semapv:UnspecifiedMatching MONDO:0018511 epithelial tumor of the appendix skos:exactMatch UMLS:C5680073 semapv:UnspecifiedMatching MONDO:0018512 obsolete rare epithelial tumor of colon skos:exactMatch Orphanet:423991 Rare epithelial tumor of colon semapv:UnspecifiedMatching MONDO:0018513 squamous cell carcinoma of colon skos:exactMatch DOID:5519 colon squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0018513 squamous cell carcinoma of colon skos:exactMatch MEDGEN:272494 semapv:UnspecifiedMatching MONDO:0018513 squamous cell carcinoma of colon skos:exactMatch NCIT:C5490 Colon Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0018513 squamous cell carcinoma of colon skos:exactMatch Orphanet:423994 Squamous cell carcinoma of the colon semapv:UnspecifiedMatching MONDO:0018513 squamous cell carcinoma of colon skos:exactMatch SCTID:766981007 semapv:UnspecifiedMatching MONDO:0018513 squamous cell carcinoma of colon skos:exactMatch UMLS:C1333100 semapv:UnspecifiedMatching MONDO:0018514 obsolete rare epithelial tumor of rectum skos:exactMatch Orphanet:423998 Rare epithelial tumor of rectum semapv:UnspecifiedMatching MONDO:0018515 squamous cell carcinoma of rectum skos:exactMatch DOID:5528 rectum squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0018515 squamous cell carcinoma of rectum skos:exactMatch MEDGEN:235534 semapv:UnspecifiedMatching MONDO:0018515 squamous cell carcinoma of rectum skos:exactMatch NCIT:C5554 Rectal Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0018515 squamous cell carcinoma of rectum skos:exactMatch Orphanet:424002 Squamous cell carcinoma of the rectum semapv:UnspecifiedMatching MONDO:0018515 squamous cell carcinoma of rectum skos:exactMatch SCTID:766979005 semapv:UnspecifiedMatching MONDO:0018515 squamous cell carcinoma of rectum skos:exactMatch UMLS:C1335690 semapv:UnspecifiedMatching MONDO:0018516 epithelial tumor of anal canal skos:exactMatch MEDGEN:1842505 semapv:UnspecifiedMatching MONDO:0018516 epithelial tumor of anal canal skos:exactMatch Orphanet:424010 Epithelial tumor of anal canal semapv:UnspecifiedMatching MONDO:0018516 epithelial tumor of anal canal skos:exactMatch UMLS:C5681209 semapv:UnspecifiedMatching MONDO:0018520 obsolete rare epithelial tumor of pancreas skos:exactMatch Orphanet:424033 Rare epithelial tumor of pancreas semapv:UnspecifiedMatching MONDO:0018521 squamous cell carcinoma of pancreas skos:exactMatch DOID:0080323 pancreatic squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0018521 squamous cell carcinoma of pancreas skos:exactMatch MEDGEN:393937 semapv:UnspecifiedMatching MONDO:0018521 squamous cell carcinoma of pancreas skos:exactMatch NCIT:C173813 Pancreatic Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0018521 squamous cell carcinoma of pancreas skos:exactMatch Orphanet:424039 Squamous cell carcinoma of pancreas semapv:UnspecifiedMatching MONDO:0018521 squamous cell carcinoma of pancreas skos:exactMatch UMLS:C2675993 semapv:UnspecifiedMatching MONDO:0018523 pancreatic mucinous cystadenoma skos:exactMatch DOID:7235 pancreatic mucinous cystadenoma semapv:UnspecifiedMatching MONDO:0018523 pancreatic mucinous cystadenoma skos:exactMatch DOID:7735 pancreatic colloid cystadenoma semapv:UnspecifiedMatching MONDO:0018523 pancreatic mucinous cystadenoma skos:exactMatch MEDGEN:277492 semapv:UnspecifiedMatching MONDO:0018523 pancreatic mucinous cystadenoma skos:exactMatch Orphanet:424053 Mucinous cystadenocarcinoma of the pancreas semapv:UnspecifiedMatching MONDO:0018523 pancreatic mucinous cystadenoma skos:exactMatch UMLS:C1335309 semapv:UnspecifiedMatching MONDO:0018525 solid pseudopapillary carcinoma of pancreas skos:exactMatch DOID:6827 pancreatic solid pseudopapillary carcinoma semapv:UnspecifiedMatching MONDO:0018525 solid pseudopapillary carcinoma of pancreas skos:exactMatch MEDGEN:236832 semapv:UnspecifiedMatching MONDO:0018525 solid pseudopapillary carcinoma of pancreas skos:exactMatch NCIT:C5728 Solid Pseudopapillary Carcinoma of the Pancreas semapv:UnspecifiedMatching MONDO:0018525 solid pseudopapillary carcinoma of pancreas skos:exactMatch Orphanet:424065 Pancreatic solid pseudopapillary neoplasm semapv:UnspecifiedMatching MONDO:0018525 solid pseudopapillary carcinoma of pancreas skos:exactMatch UMLS:C1336029 semapv:UnspecifiedMatching MONDO:0018528 congenital myopathy with myasthenic-like onset skos:exactMatch MEDGEN:1642781 semapv:UnspecifiedMatching MONDO:0018528 congenital myopathy with myasthenic-like onset skos:exactMatch Orphanet:424107 Congenital myopathy with myasthenic-like onset semapv:UnspecifiedMatching MONDO:0018528 congenital myopathy with myasthenic-like onset skos:exactMatch SCTID:763315005 semapv:UnspecifiedMatching MONDO:0018528 congenital myopathy with myasthenic-like onset skos:exactMatch UMLS:C4706390 semapv:UnspecifiedMatching MONDO:0018529 obsolete qualitative or quantitative defects of Torsin-1A-interacting protein 1 skos:exactMatch Orphanet:424925 Qualitative or quantitative defects of Torsin-1A-interacting protein 1 semapv:UnspecifiedMatching MONDO:0018530 obsolete rare epithelial tumor of liver and intrahepatic biliary tract skos:exactMatch Orphanet:424933 Rare malignant epithelial tumor of liver and intrahepatic biliary tract semapv:UnspecifiedMatching MONDO:0018531 carcinoma of liver and intrahepatic biliary tract skos:exactMatch MEDGEN:78921 semapv:UnspecifiedMatching MONDO:0018531 carcinoma of liver and intrahepatic biliary tract skos:exactMatch NCIT:C7927 Liver Carcinoma semapv:UnspecifiedMatching MONDO:0018531 carcinoma of liver and intrahepatic biliary tract skos:exactMatch Orphanet:424936 Carcinoma of liver and intrahepatic biliary tract semapv:UnspecifiedMatching MONDO:0018531 carcinoma of liver and intrahepatic biliary tract skos:exactMatch UMLS:C0279000 semapv:UnspecifiedMatching MONDO:0018532 obsolete adenocarcinoma of liver and intrahepatic biliary tract skos:exactMatch Orphanet:424943 Adenocarcinoma of the liver and intrahepatic biliary tract semapv:UnspecifiedMatching MONDO:0018533 undifferentiated carcinoma of liver and intrahepatic biliary tract skos:exactMatch MEDGEN:1656437 semapv:UnspecifiedMatching MONDO:0018533 undifferentiated carcinoma of liver and intrahepatic biliary tract skos:exactMatch Orphanet:424970 Undifferentiated carcinoma of liver and intrahepatic biliary tract semapv:UnspecifiedMatching MONDO:0018533 undifferentiated carcinoma of liver and intrahepatic biliary tract skos:exactMatch UMLS:C4749401 semapv:UnspecifiedMatching MONDO:0018534 squamous cell carcinoma of liver and intrahepatic biliary tract skos:exactMatch MEDGEN:1668494 semapv:UnspecifiedMatching MONDO:0018534 squamous cell carcinoma of liver and intrahepatic biliary tract skos:exactMatch Orphanet:424975 Squamous cell carcinoma of liver and intrahepatic biliary tract semapv:UnspecifiedMatching MONDO:0018534 squamous cell carcinoma of liver and intrahepatic biliary tract skos:exactMatch UMLS:C4749400 semapv:UnspecifiedMatching MONDO:0018535 biliary cystadenocarcinoma skos:exactMatch MEDGEN:473526 semapv:UnspecifiedMatching MONDO:0018535 biliary cystadenocarcinoma skos:exactMatch Orphanet:424982 Biliary cystadenocarcinoma semapv:UnspecifiedMatching MONDO:0018535 biliary cystadenocarcinoma skos:exactMatch UMLS:C2064409 semapv:UnspecifiedMatching MONDO:0018536 adenocarcinoma of gallbladder and extrahepatic biliary tract skos:exactMatch MEDGEN:1633887 semapv:UnspecifiedMatching MONDO:0018536 adenocarcinoma of gallbladder and extrahepatic biliary tract skos:exactMatch Orphanet:424991 Adenocarcinoma of the gallbladder and extrahepatic biliary tract semapv:UnspecifiedMatching MONDO:0018536 adenocarcinoma of gallbladder and extrahepatic biliary tract skos:exactMatch SCTID:765741003 semapv:UnspecifiedMatching MONDO:0018536 adenocarcinoma of gallbladder and extrahepatic biliary tract skos:exactMatch UMLS:C4707555 semapv:UnspecifiedMatching MONDO:0018537 squamous cell carcinoma of gallbladder and extrahepatic biliary tract skos:exactMatch MEDGEN:1635098 semapv:UnspecifiedMatching MONDO:0018537 squamous cell carcinoma of gallbladder and extrahepatic biliary tract skos:exactMatch Orphanet:424996 Squamous cell carcinoma of gallbladder and extrahepatic biliary tract semapv:UnspecifiedMatching MONDO:0018537 squamous cell carcinoma of gallbladder and extrahepatic biliary tract skos:exactMatch SCTID:766978002 semapv:UnspecifiedMatching MONDO:0018537 squamous cell carcinoma of gallbladder and extrahepatic biliary tract skos:exactMatch UMLS:C4707898 semapv:UnspecifiedMatching MONDO:0018538 obsolete inherited digestive cancer-predisposing syndrome skos:exactMatch Orphanet:425003 Inherited digestive cancer-predisposing syndrome semapv:UnspecifiedMatching MONDO:0018539 obsolete rare epithelial tumor of small intestine skos:exactMatch Orphanet:425368 Rare epithelial tumor of small intestine semapv:UnspecifiedMatching MONDO:0018540 PFAPA syndrome skos:exactMatch DOID:0081451 PFAPA syndrome semapv:UnspecifiedMatching MONDO:0018540 PFAPA syndrome skos:exactMatch MEDGEN:909507 semapv:UnspecifiedMatching MONDO:0018540 PFAPA syndrome skos:exactMatch NCIT:C116917 Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis Syndrome semapv:UnspecifiedMatching MONDO:0018540 PFAPA syndrome skos:exactMatch Orphanet:42642 PFAPA syndrome semapv:UnspecifiedMatching MONDO:0018540 PFAPA syndrome skos:exactMatch SCTID:717231003 semapv:UnspecifiedMatching MONDO:0018540 PFAPA syndrome skos:exactMatch UMLS:C4082167 semapv:UnspecifiedMatching MONDO:0018541 familial hypoaldosteronism skos:exactMatch MEDGEN:899592 semapv:UnspecifiedMatching MONDO:0018541 familial hypoaldosteronism skos:exactMatch Orphanet:427 Familial hypoaldosteronism semapv:UnspecifiedMatching MONDO:0018541 familial hypoaldosteronism skos:exactMatch SCTID:715343000 semapv:UnspecifiedMatching MONDO:0018541 familial hypoaldosteronism skos:exactMatch UMLS:C4275180 semapv:UnspecifiedMatching MONDO:0018541 familial hypoaldosteronism skos:exactMatch icd11.foundation:712299654 Familial hypoaldosteronism semapv:UnspecifiedMatching MONDO:0018542 severe congenital neutropenia skos:exactMatch DOID:0050590 severe congenital neutropenia semapv:UnspecifiedMatching MONDO:0018542 severe congenital neutropenia skos:exactMatch MEDGEN:343974 semapv:UnspecifiedMatching MONDO:0018542 severe congenital neutropenia skos:exactMatch NCIT:C166152 Severe Congenital Neutropenia semapv:UnspecifiedMatching MONDO:0018542 severe congenital neutropenia skos:exactMatch OMIMPS:202700 Neutropenia, severe congenital semapv:UnspecifiedMatching MONDO:0018542 severe congenital neutropenia skos:exactMatch Orphanet:42738 Severe congenital neutropenia semapv:UnspecifiedMatching MONDO:0018542 severe congenital neutropenia skos:exactMatch SCTID:89655007 semapv:UnspecifiedMatching MONDO:0018542 severe congenital neutropenia skos:exactMatch UMLS:C1853118 semapv:UnspecifiedMatching MONDO:0018543 autosomal dominant hypocalcemia skos:exactMatch DOID:0090109 autosomal dominant hypocalcemia semapv:UnspecifiedMatching MONDO:0018543 autosomal dominant hypocalcemia skos:exactMatch MEDGEN:884527 semapv:UnspecifiedMatching MONDO:0018543 autosomal dominant hypocalcemia skos:exactMatch OMIMPS:601198 Hypocalcemia semapv:UnspecifiedMatching MONDO:0018543 autosomal dominant hypocalcemia skos:exactMatch Orphanet:428 Autosomal dominant hypocalcemia semapv:UnspecifiedMatching MONDO:0018543 autosomal dominant hypocalcemia skos:exactMatch SCTID:711152006 semapv:UnspecifiedMatching MONDO:0018543 autosomal dominant hypocalcemia skos:exactMatch UMLS:C4048195 semapv:UnspecifiedMatching MONDO:0018544 adrenoleukodystrophy skos:exactMatch DOID:10588 adrenoleukodystrophy semapv:UnspecifiedMatching MONDO:0018544 adrenoleukodystrophy skos:exactMatch MEDGEN:57667 semapv:UnspecifiedMatching MONDO:0018544 adrenoleukodystrophy skos:exactMatch NCIT:C61252 Adrenoleukodystrophy semapv:UnspecifiedMatching MONDO:0018544 adrenoleukodystrophy skos:exactMatch OMIM:300100 adrenoleukodystrophy semapv:UnspecifiedMatching MONDO:0018544 adrenoleukodystrophy skos:exactMatch Orphanet:43 X-linked adrenoleukodystrophy semapv:UnspecifiedMatching MONDO:0018544 adrenoleukodystrophy skos:exactMatch UMLS:C0162309 semapv:UnspecifiedMatching MONDO:0018544 adrenoleukodystrophy skos:exactMatch icd11.foundation:1085655586 Adrenoleukodystrophy semapv:UnspecifiedMatching MONDO:0018544 adrenoleukodystrophy skos:exactMatch mesh:D000326 semapv:UnspecifiedMatching MONDO:0018545 obsolete primary immunodeficiency with predisposition to severe viral infection skos:exactMatch Orphanet:431156 Primary immunodeficiency with predisposition to severe viral infection semapv:UnspecifiedMatching MONDO:0018546 serotonin syndrome skos:exactMatch EFO:1001842 semapv:UnspecifiedMatching MONDO:0018546 serotonin syndrome skos:exactMatch MEDGEN:152119 semapv:UnspecifiedMatching MONDO:0018546 serotonin syndrome skos:exactMatch Orphanet:43116 Serotonin syndrome semapv:UnspecifiedMatching MONDO:0018546 serotonin syndrome skos:exactMatch SCTID:371089000 semapv:UnspecifiedMatching MONDO:0018546 serotonin syndrome skos:exactMatch UMLS:C0699828 semapv:UnspecifiedMatching MONDO:0018546 serotonin syndrome skos:exactMatch icd11.foundation:678764364 Serotonin syndrome semapv:UnspecifiedMatching MONDO:0018546 serotonin syndrome skos:exactMatch mesh:D020230 semapv:UnspecifiedMatching MONDO:0018547 acute tricyclic antidepressant poisoning skos:exactMatch MEDGEN:1830115 semapv:UnspecifiedMatching MONDO:0018547 acute tricyclic antidepressant poisoning skos:exactMatch Orphanet:43117 Acute tricyclic antidepressant poisoning semapv:UnspecifiedMatching MONDO:0018547 acute tricyclic antidepressant poisoning skos:exactMatch UMLS:C5681319 semapv:UnspecifiedMatching MONDO:0018548 acute poisoning by drugs with membrane-stabilizing effect skos:exactMatch Orphanet:43119 Acute poisoning by drugs with membrane-stabilizing effect semapv:UnspecifiedMatching MONDO:0018549 obsolete late-onset scapuloperoneal muscular dystrophy with hyaline bodies skos:exactMatch Orphanet:431263 Late-onset scapuloperoneal muscular dystrophy with hyaline bodies semapv:UnspecifiedMatching MONDO:0018550 obsolete spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder skos:exactMatch Orphanet:431320 Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder semapv:UnspecifiedMatching MONDO:0018551 patent urachus skos:exactMatch MEDGEN:75610 semapv:UnspecifiedMatching MONDO:0018551 patent urachus skos:exactMatch NCIT:C99005 Patent Urachus semapv:UnspecifiedMatching MONDO:0018551 patent urachus skos:exactMatch Orphanet:431341 Patent urachus semapv:UnspecifiedMatching MONDO:0018551 patent urachus skos:exactMatch SCTID:398316009 semapv:UnspecifiedMatching MONDO:0018551 patent urachus skos:exactMatch UMLS:C0266357 semapv:UnspecifiedMatching MONDO:0018551 patent urachus skos:exactMatch icd11.foundation:1391202028 Patent urachus semapv:UnspecifiedMatching MONDO:0018552 urachal sinus skos:exactMatch MEDGEN:758682 semapv:UnspecifiedMatching MONDO:0018552 urachal sinus skos:exactMatch Orphanet:431344 Urachal sinus semapv:UnspecifiedMatching MONDO:0018552 urachal sinus skos:exactMatch SCTID:451030007 semapv:UnspecifiedMatching MONDO:0018552 urachal sinus skos:exactMatch UMLS:C3472657 semapv:UnspecifiedMatching MONDO:0018552 urachal sinus skos:exactMatch icd11.foundation:1174996735 Urachal sinus semapv:UnspecifiedMatching MONDO:0018553 urachal diverticulum skos:exactMatch MEDGEN:609128 semapv:UnspecifiedMatching MONDO:0018553 urachal diverticulum skos:exactMatch NCIT:C123254 Urachal Diverticulum semapv:UnspecifiedMatching MONDO:0018553 urachal diverticulum skos:exactMatch Orphanet:431347 Urachal diverticulum semapv:UnspecifiedMatching MONDO:0018553 urachal diverticulum skos:exactMatch SCTID:253899000 semapv:UnspecifiedMatching MONDO:0018553 urachal diverticulum skos:exactMatch UMLS:C0431743 semapv:UnspecifiedMatching MONDO:0018553 urachal diverticulum skos:exactMatch icd11.foundation:1816352256 Urachal diverticulum semapv:UnspecifiedMatching MONDO:0018554 pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis skos:exactMatch EFO:0009199 semapv:UnspecifiedMatching MONDO:0018554 pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis skos:exactMatch MEDGEN:785618 semapv:UnspecifiedMatching MONDO:0018554 pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis skos:exactMatch Orphanet:431353 Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis semapv:UnspecifiedMatching MONDO:0018554 pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis skos:exactMatch UMLS:C3698354 semapv:UnspecifiedMatching MONDO:0018555 hypogonadotropic hypogonadism skos:exactMatch DOID:0090070 hypogonadotropic hypogonadism semapv:UnspecifiedMatching MONDO:0018555 hypogonadotropic hypogonadism skos:exactMatch MEDGEN:82883 semapv:UnspecifiedMatching MONDO:0018555 hypogonadotropic hypogonadism skos:exactMatch NCIT:C113347 Hypogonadotropic Hypogonadism semapv:UnspecifiedMatching MONDO:0018555 hypogonadotropic hypogonadism skos:exactMatch OMIMPS:147950 Hypogonadotropic hypogonadism with or without anosmia semapv:UnspecifiedMatching MONDO:0018555 hypogonadotropic hypogonadism skos:exactMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:UnspecifiedMatching MONDO:0018555 hypogonadotropic hypogonadism skos:exactMatch SCTID:33927004 semapv:UnspecifiedMatching MONDO:0018555 hypogonadotropic hypogonadism skos:exactMatch UMLS:C0271623 semapv:UnspecifiedMatching MONDO:0018556 Lambert-Eaton myasthenic syndrome skos:exactMatch DOID:0050214 Lambert-Eaton myasthenic syndrome semapv:UnspecifiedMatching MONDO:0018556 Lambert-Eaton myasthenic syndrome skos:exactMatch MEDGEN:6005 semapv:UnspecifiedMatching MONDO:0018556 Lambert-Eaton myasthenic syndrome skos:exactMatch NCIT:C3155 Lambert Eaton Myasthenic Syndrome semapv:UnspecifiedMatching MONDO:0018556 Lambert-Eaton myasthenic syndrome skos:exactMatch Orphanet:43393 Lambert-Eaton myasthenic syndrome semapv:UnspecifiedMatching MONDO:0018556 Lambert-Eaton myasthenic syndrome skos:exactMatch SCTID:56989000 semapv:UnspecifiedMatching MONDO:0018556 Lambert-Eaton myasthenic syndrome skos:exactMatch UMLS:C0022972 semapv:UnspecifiedMatching MONDO:0018556 Lambert-Eaton myasthenic syndrome skos:exactMatch icd11.foundation:796417193 Lambert-Eaton syndrome semapv:UnspecifiedMatching MONDO:0018556 Lambert-Eaton myasthenic syndrome skos:exactMatch mesh:D015624 semapv:UnspecifiedMatching MONDO:0018557 obsolete rare genetic autonomic nervous system disorder skos:exactMatch Orphanet:434786 Rare genetic autonomic nervous system disorder semapv:UnspecifiedMatching MONDO:0018558 obsolete syndrome with wooly hair skos:exactMatch Orphanet:434809 Syndrome with woolly hair semapv:UnspecifiedMatching MONDO:0018559 fetal lower urinary tract obstruction skos:exactMatch MEDGEN:931214 semapv:UnspecifiedMatching MONDO:0018559 fetal lower urinary tract obstruction skos:exactMatch Orphanet:435365 Fetal lower urinary tract obstruction semapv:UnspecifiedMatching MONDO:0018559 fetal lower urinary tract obstruction skos:exactMatch SCTID:717752005 semapv:UnspecifiedMatching MONDO:0018559 fetal lower urinary tract obstruction skos:exactMatch UMLS:C4305545 semapv:UnspecifiedMatching MONDO:0018559 fetal lower urinary tract obstruction skos:exactMatch icd11.foundation:1661120971 Fetal lower urinary tract obstruction semapv:UnspecifiedMatching MONDO:0018560 obsolete anterior urethral valve skos:exactMatch SCTID:253907008 semapv:UnspecifiedMatching MONDO:0018561 precocious puberty in female skos:exactMatch MEDGEN:543449 semapv:UnspecifiedMatching MONDO:0018561 precocious puberty in female skos:exactMatch Orphanet:435561 Rare precocious puberty in female semapv:UnspecifiedMatching MONDO:0018561 precocious puberty in female skos:exactMatch UMLS:C0271616 semapv:UnspecifiedMatching MONDO:0018562 obsolete hereditary otorhinolaryngological malformation skos:exactMatch Orphanet:435603 Genetic otorhinolaryngological malformation semapv:UnspecifiedMatching MONDO:0018563 adactyly of foot skos:exactMatch MEDGEN:539387 semapv:UnspecifiedMatching MONDO:0018563 adactyly of foot skos:exactMatch SCTID:66345008 semapv:UnspecifiedMatching MONDO:0018563 adactyly of foot skos:exactMatch UMLS:C0265641 semapv:UnspecifiedMatching MONDO:0018564 3p25.3 microdeletion syndrome skos:exactMatch MEDGEN:1733655 semapv:UnspecifiedMatching MONDO:0018564 3p25.3 microdeletion syndrome skos:exactMatch Orphanet:435638 3p25.3 microdeletion syndrome semapv:UnspecifiedMatching MONDO:0018564 3p25.3 microdeletion syndrome skos:exactMatch UMLS:C5437630 semapv:UnspecifiedMatching MONDO:0018565 congenital urachal anomaly skos:exactMatch MEDGEN:1433102 semapv:UnspecifiedMatching MONDO:0018565 congenital urachal anomaly skos:exactMatch Orphanet:435743 Congenital urachal anomaly semapv:UnspecifiedMatching MONDO:0018565 congenital urachal anomaly skos:exactMatch UMLS:C1739100 semapv:UnspecifiedMatching MONDO:0018566 short stature-advanced bone age-early-onset osteoarthritis syndrome skos:exactMatch MEDGEN:1811782 semapv:UnspecifiedMatching MONDO:0018566 short stature-advanced bone age-early-onset osteoarthritis syndrome skos:exactMatch Orphanet:435804 Short stature-advanced bone age-early-onset osteoarthritis syndrome semapv:UnspecifiedMatching MONDO:0018566 short stature-advanced bone age-early-onset osteoarthritis syndrome skos:exactMatch UMLS:C5681177 semapv:UnspecifiedMatching MONDO:0018567 autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation skos:exactMatch MEDGEN:1800451 semapv:UnspecifiedMatching MONDO:0018567 autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation skos:exactMatch Orphanet:435819 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation semapv:UnspecifiedMatching MONDO:0018567 autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation skos:exactMatch UMLS:C5569028 semapv:UnspecifiedMatching MONDO:0018569 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome skos:exactMatch MEDGEN:1812501 semapv:UnspecifiedMatching MONDO:0018569 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome skos:exactMatch Orphanet:435938 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome semapv:UnspecifiedMatching MONDO:0018569 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome skos:exactMatch UMLS:C5681178 semapv:UnspecifiedMatching MONDO:0018570 hypophosphatasia skos:exactMatch DOID:14213 hypophosphatasia semapv:UnspecifiedMatching MONDO:0018570 hypophosphatasia skos:exactMatch MEDGEN:43799 semapv:UnspecifiedMatching MONDO:0018570 hypophosphatasia skos:exactMatch NCIT:C26798 Hypophosphatasia semapv:UnspecifiedMatching MONDO:0018570 hypophosphatasia skos:exactMatch Orphanet:436 Hypophosphatasia semapv:UnspecifiedMatching MONDO:0018570 hypophosphatasia skos:exactMatch SCTID:360792001 semapv:UnspecifiedMatching MONDO:0018570 hypophosphatasia skos:exactMatch UMLS:C0020630 semapv:UnspecifiedMatching MONDO:0018570 hypophosphatasia skos:exactMatch icd11.foundation:422012968 Hypophosphatasia semapv:UnspecifiedMatching MONDO:0018570 hypophosphatasia skos:exactMatch mesh:D007014 semapv:UnspecifiedMatching MONDO:0018571 contractures-developmental delay-Pierre Robin syndrome skos:exactMatch MEDGEN:1805516 semapv:UnspecifiedMatching MONDO:0018571 contractures-developmental delay-Pierre Robin syndrome skos:exactMatch Orphanet:436003 Contractures-developmental delay-Pierre Robin syndrome semapv:UnspecifiedMatching MONDO:0018571 contractures-developmental delay-Pierre Robin syndrome skos:exactMatch UMLS:C5680042 semapv:UnspecifiedMatching MONDO:0018572 severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome skos:exactMatch MEDGEN:1808836 semapv:UnspecifiedMatching MONDO:0018572 severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome skos:exactMatch Orphanet:436141 HIDEA syndrome semapv:UnspecifiedMatching MONDO:0018572 severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome skos:exactMatch UMLS:C5681179 semapv:UnspecifiedMatching MONDO:0018573 intrauterine growth restriction-short stature-early adult-onset diabetes syndrome skos:exactMatch MEDGEN:1801791 semapv:UnspecifiedMatching MONDO:0018573 intrauterine growth restriction-short stature-early adult-onset diabetes syndrome skos:exactMatch Orphanet:436144 Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome semapv:UnspecifiedMatching MONDO:0018573 intrauterine growth restriction-short stature-early adult-onset diabetes syndrome skos:exactMatch UMLS:C5681180 semapv:UnspecifiedMatching MONDO:0018574 obsolete intellectual disability-expressive aphasia-facial dysmorphism syndrome skos:exactMatch Orphanet:436151 Intellectual disability-expressive aphasia-facial dysmorphism syndrome semapv:UnspecifiedMatching MONDO:0018575 obsolete microcephalic primordial dwarfism-insulin resistance syndrome skos:exactMatch Orphanet:436182 Microcephalic primordial dwarfism-insulin resistance syndrome semapv:UnspecifiedMatching MONDO:0018576 non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy skos:exactMatch MEDGEN:1806079 semapv:UnspecifiedMatching MONDO:0018576 non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy skos:exactMatch Orphanet:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy semapv:UnspecifiedMatching MONDO:0018576 non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy skos:exactMatch UMLS:C5688227 semapv:UnspecifiedMatching MONDO:0018577 pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa skos:exactMatch MEDGEN:1810682 semapv:UnspecifiedMatching MONDO:0018577 pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa skos:exactMatch Orphanet:436274 Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa semapv:UnspecifiedMatching MONDO:0018577 pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa skos:exactMatch UMLS:C5680045 semapv:UnspecifiedMatching MONDO:0018579 obsolete disorder of ketone body transport skos:exactMatch Orphanet:438072 Disorder of keton body transport semapv:UnspecifiedMatching MONDO:0018581 progressive encephalomyelitis with rigidity and myoclonus skos:exactMatch MEDGEN:349287 semapv:UnspecifiedMatching MONDO:0018581 progressive encephalomyelitis with rigidity and myoclonus skos:exactMatch Orphanet:438266 Progressive encephalomyelitis with rigidity and myoclonus semapv:UnspecifiedMatching MONDO:0018581 progressive encephalomyelitis with rigidity and myoclonus skos:exactMatch UMLS:C1861457 semapv:UnspecifiedMatching MONDO:0018582 GCGR-related hyperglucagonemia skos:exactMatch DOID:0112306 Mahvash Disease semapv:UnspecifiedMatching MONDO:0018582 GCGR-related hyperglucagonemia skos:exactMatch MEDGEN:1677024 semapv:UnspecifiedMatching MONDO:0018582 GCGR-related hyperglucagonemia skos:exactMatch OMIM:619290 mahvash disease semapv:UnspecifiedMatching MONDO:0018582 GCGR-related hyperglucagonemia skos:exactMatch Orphanet:438274 GCGR-related hyperglucagonemia semapv:UnspecifiedMatching MONDO:0018582 GCGR-related hyperglucagonemia skos:exactMatch UMLS:C4763635 semapv:UnspecifiedMatching MONDO:0018583 human infection by orthopoxvirus skos:exactMatch MEDGEN:734973 semapv:UnspecifiedMatching MONDO:0018583 human infection by orthopoxvirus skos:exactMatch Orphanet:438279 Human infection by orthopoxvirus semapv:UnspecifiedMatching MONDO:0018583 human infection by orthopoxvirus skos:exactMatch UMLS:C1532229 semapv:UnspecifiedMatching MONDO:0018585 pediatric arterial ischemic stroke skos:exactMatch MEDGEN:1803840 semapv:UnspecifiedMatching MONDO:0018585 pediatric arterial ischemic stroke skos:exactMatch Orphanet:439175 Pediatric arterial ischemic stroke semapv:UnspecifiedMatching MONDO:0018585 pediatric arterial ischemic stroke skos:exactMatch SCTID:1197363004 semapv:UnspecifiedMatching MONDO:0018585 pediatric arterial ischemic stroke skos:exactMatch UMLS:C5680049 semapv:UnspecifiedMatching MONDO:0018586 zinc-responsive necrolytic acral erythema skos:exactMatch MEDGEN:1613901 semapv:UnspecifiedMatching MONDO:0018586 zinc-responsive necrolytic acral erythema skos:exactMatch Orphanet:439196 Zinc-responsive necrolytic acral erythema semapv:UnspecifiedMatching MONDO:0018586 zinc-responsive necrolytic acral erythema skos:exactMatch SCTID:762543009 semapv:UnspecifiedMatching MONDO:0018586 zinc-responsive necrolytic acral erythema skos:exactMatch UMLS:C4546437 semapv:UnspecifiedMatching MONDO:0018587 non-recovering obstetric brachial plexus lesion skos:exactMatch MEDGEN:1810145 semapv:UnspecifiedMatching MONDO:0018587 non-recovering obstetric brachial plexus lesion skos:exactMatch Orphanet:439202 Non-recovering obstetric brachial plexus lesion semapv:UnspecifiedMatching MONDO:0018587 non-recovering obstetric brachial plexus lesion skos:exactMatch UMLS:C5680048 semapv:UnspecifiedMatching MONDO:0018588 ALECT2 amyloidosis skos:exactMatch MEDGEN:1801621 semapv:UnspecifiedMatching MONDO:0018588 ALECT2 amyloidosis skos:exactMatch Orphanet:439224 ALECT2 amyloidosis semapv:UnspecifiedMatching MONDO:0018588 ALECT2 amyloidosis skos:exactMatch UMLS:C5680047 semapv:UnspecifiedMatching MONDO:0018588 ALECT2 amyloidosis skos:exactMatch icd11.foundation:1363099940 ALECT2 amyloidosis semapv:UnspecifiedMatching MONDO:0018589 AApoAIV amyloidosis skos:exactMatch DOID:0080927 apolipoprotein A-IV associated amyloidosis semapv:UnspecifiedMatching MONDO:0018589 AApoAIV amyloidosis skos:exactMatch MEDGEN:1800228 semapv:UnspecifiedMatching MONDO:0018589 AApoAIV amyloidosis skos:exactMatch Orphanet:439232 AApoAIV amyloidosis semapv:UnspecifiedMatching MONDO:0018589 AApoAIV amyloidosis skos:exactMatch UMLS:C5568805 semapv:UnspecifiedMatching MONDO:0018589 AApoAIV amyloidosis skos:exactMatch icd11.foundation:1235542353 AApoAIV amyloidosis semapv:UnspecifiedMatching MONDO:0018590 ABeta2M amyloidosis skos:exactMatch DOID:0080928 dialysis-related amyloidosis semapv:UnspecifiedMatching MONDO:0018590 ABeta2M amyloidosis skos:exactMatch MEDGEN:1842860 semapv:UnspecifiedMatching MONDO:0018590 ABeta2M amyloidosis skos:exactMatch Orphanet:439246 ABeta2M amyloidosis semapv:UnspecifiedMatching MONDO:0018590 ABeta2M amyloidosis skos:exactMatch UMLS:C5680053 semapv:UnspecifiedMatching MONDO:0018590 ABeta2M amyloidosis skos:exactMatch icd11.foundation:448754119 Dialysis-associated amyloidosis semapv:UnspecifiedMatching MONDO:0018591 ITM2B amyloidosis skos:exactMatch MEDGEN:82800 semapv:UnspecifiedMatching MONDO:0018591 ITM2B amyloidosis skos:exactMatch Orphanet:439254 ITM2B amyloidosis semapv:UnspecifiedMatching MONDO:0018591 ITM2B amyloidosis skos:exactMatch SCTID:45639009 semapv:UnspecifiedMatching MONDO:0018591 ITM2B amyloidosis skos:exactMatch UMLS:C0268393 semapv:UnspecifiedMatching MONDO:0018591 ITM2B amyloidosis skos:exactMatch icd11.foundation:503091580 ITM2B amyloidosis semapv:UnspecifiedMatching MONDO:0018592 cutaneous polyarteritis nodosa skos:exactMatch MEDGEN:83358 semapv:UnspecifiedMatching MONDO:0018592 cutaneous polyarteritis nodosa skos:exactMatch NCIT:C117295 Cutaneous Polyarteritis Nodosa semapv:UnspecifiedMatching MONDO:0018592 cutaneous polyarteritis nodosa skos:exactMatch Orphanet:439729 Cutaneous polyarteritis nodosa semapv:UnspecifiedMatching MONDO:0018592 cutaneous polyarteritis nodosa skos:exactMatch SCTID:239926000 semapv:UnspecifiedMatching MONDO:0018592 cutaneous polyarteritis nodosa skos:exactMatch UMLS:C0343190 semapv:UnspecifiedMatching MONDO:0018592 cutaneous polyarteritis nodosa skos:exactMatch icd11.foundation:1752423171 Cutaneous polyarteritis nodosa semapv:UnspecifiedMatching MONDO:0018593 primary polyarteritis nodosa skos:exactMatch MEDGEN:1842954 semapv:UnspecifiedMatching MONDO:0018593 primary polyarteritis nodosa skos:exactMatch Orphanet:439737 Primary polyarteritis nodosa semapv:UnspecifiedMatching MONDO:0018593 primary polyarteritis nodosa skos:exactMatch UMLS:C5680052 semapv:UnspecifiedMatching MONDO:0018594 secondary polyarteritis nodosa skos:exactMatch MEDGEN:1843373 semapv:UnspecifiedMatching MONDO:0018594 secondary polyarteritis nodosa skos:exactMatch Orphanet:439746 Secondary polyarteritis nodosa semapv:UnspecifiedMatching MONDO:0018594 secondary polyarteritis nodosa skos:exactMatch UMLS:C5680050 semapv:UnspecifiedMatching MONDO:0018595 single-organ polyarteritis nodosa skos:exactMatch MEDGEN:1842346 semapv:UnspecifiedMatching MONDO:0018595 single-organ polyarteritis nodosa skos:exactMatch Orphanet:439755 Single-organ polyarteritis nodosa semapv:UnspecifiedMatching MONDO:0018595 single-organ polyarteritis nodosa skos:exactMatch UMLS:C5680051 semapv:UnspecifiedMatching MONDO:0018596 systemic polyarteritis nodosa skos:exactMatch MEDGEN:1863875 semapv:UnspecifiedMatching MONDO:0018596 systemic polyarteritis nodosa skos:exactMatch Orphanet:439762 Systemic polyarteritis nodosa semapv:UnspecifiedMatching MONDO:0018596 systemic polyarteritis nodosa skos:exactMatch UMLS:C5848156 semapv:UnspecifiedMatching MONDO:0018597 plastic bronchitis skos:exactMatch MEDGEN:538495 semapv:UnspecifiedMatching MONDO:0018597 plastic bronchitis skos:exactMatch Orphanet:439881 Plastic bronchitis semapv:UnspecifiedMatching MONDO:0018597 plastic bronchitis skos:exactMatch SCTID:53926002 semapv:UnspecifiedMatching MONDO:0018597 plastic bronchitis skos:exactMatch UMLS:C0264342 semapv:UnspecifiedMatching MONDO:0018598 obsolete neonatal adrenoleukodystrophy skos:exactMatch ICD10CM:E71.511 Neonatal adrenoleukodystrophy semapv:UnspecifiedMatching MONDO:0018598 obsolete neonatal adrenoleukodystrophy skos:exactMatch NCIT:C99251 Neonatal Adrenoleukodystrophy semapv:UnspecifiedMatching MONDO:0018598 obsolete neonatal adrenoleukodystrophy skos:exactMatch Orphanet:44 Neonatal adrenoleukodystrophy semapv:UnspecifiedMatching MONDO:0018598 obsolete neonatal adrenoleukodystrophy skos:exactMatch SCTID:238061001 semapv:UnspecifiedMatching MONDO:0018599 congenital oculomotor nerve palsy skos:exactMatch MEDGEN:1804232 semapv:UnspecifiedMatching MONDO:0018599 congenital oculomotor nerve palsy skos:exactMatch Orphanet:440221 Congenital oculomotor nerve palsy semapv:UnspecifiedMatching MONDO:0018599 congenital oculomotor nerve palsy skos:exactMatch UMLS:C5680054 semapv:UnspecifiedMatching MONDO:0018599 congenital oculomotor nerve palsy skos:exactMatch icd11.foundation:2135160463 Congenital oculomotor nerve palsy semapv:UnspecifiedMatching MONDO:0018600 congenital abducens nerve palsy skos:exactMatch MEDGEN:724505 semapv:UnspecifiedMatching MONDO:0018600 congenital abducens nerve palsy skos:exactMatch Orphanet:440233 Congenital abducens nerve palsy semapv:UnspecifiedMatching MONDO:0018600 congenital abducens nerve palsy skos:exactMatch UMLS:C1302994 semapv:UnspecifiedMatching MONDO:0018601 autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome skos:exactMatch MEDGEN:1801714 semapv:UnspecifiedMatching MONDO:0018601 autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome skos:exactMatch Orphanet:440354 Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome semapv:UnspecifiedMatching MONDO:0018601 autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome skos:exactMatch UMLS:C5680056 semapv:UnspecifiedMatching MONDO:0018602 necrotizing soft tissue infection skos:exactMatch MEDGEN:752585 semapv:UnspecifiedMatching MONDO:0018602 necrotizing soft tissue infection skos:exactMatch Orphanet:440368 Necrotizing soft tissue infection semapv:UnspecifiedMatching MONDO:0018602 necrotizing soft tissue infection skos:exactMatch SCTID:443928008 semapv:UnspecifiedMatching MONDO:0018602 necrotizing soft tissue infection skos:exactMatch UMLS:C2732890 semapv:UnspecifiedMatching MONDO:0018603 SFTPC-related interstitial lung disease skos:exactMatch Orphanet:440392 Interstitial lung disease due to SP-C deficiency semapv:UnspecifiedMatching MONDO:0018604 familial colorectal cancer type X skos:exactMatch MEDGEN:856172 semapv:UnspecifiedMatching MONDO:0018604 familial colorectal cancer type X skos:exactMatch NCIT:C120084 Hereditary Colorectal Cancer Type X semapv:UnspecifiedMatching MONDO:0018604 familial colorectal cancer type X skos:exactMatch Orphanet:440437 Familial colorectal cancer Type X semapv:UnspecifiedMatching MONDO:0018604 familial colorectal cancer type X skos:exactMatch UMLS:C3896578 semapv:UnspecifiedMatching MONDO:0018605 disorders of pentose/polyol metabolism skos:exactMatch MEDGEN:1843151 semapv:UnspecifiedMatching MONDO:0018605 disorders of pentose/polyol metabolism skos:exactMatch Orphanet:440701 Disorders of pentose/polyol metabolism semapv:UnspecifiedMatching MONDO:0018605 disorders of pentose/polyol metabolism skos:exactMatch UMLS:C5681188 semapv:UnspecifiedMatching MONDO:0018606 extensive peripapillary myelinated nerve fibers skos:exactMatch MEDGEN:1842279 semapv:UnspecifiedMatching MONDO:0018606 extensive peripapillary myelinated nerve fibers skos:exactMatch Orphanet:440724 Extensive peripapillary myelinated nerve fibers semapv:UnspecifiedMatching MONDO:0018606 extensive peripapillary myelinated nerve fibers skos:exactMatch UMLS:C5681187 semapv:UnspecifiedMatching MONDO:0018607 combined hamartoma of the retina and retinal pigment epithelium skos:exactMatch MEDGEN:396281 semapv:UnspecifiedMatching MONDO:0018607 combined hamartoma of the retina and retinal pigment epithelium skos:exactMatch NCIT:C174548 Combined Hamartoma of the Retina and Retinal Pigment Epithelium semapv:UnspecifiedMatching MONDO:0018607 combined hamartoma of the retina and retinal pigment epithelium skos:exactMatch Orphanet:440727 Combined hamartoma of the retina and retinal pigment epithelium semapv:UnspecifiedMatching MONDO:0018607 combined hamartoma of the retina and retinal pigment epithelium skos:exactMatch UMLS:C1862062 semapv:UnspecifiedMatching MONDO:0018608 pure autonomic failure skos:exactMatch MEDGEN:98293 semapv:UnspecifiedMatching MONDO:0018608 pure autonomic failure skos:exactMatch Orphanet:441 Pure autonomic failure semapv:UnspecifiedMatching MONDO:0018608 pure autonomic failure skos:exactMatch SCTID:84438001 semapv:UnspecifiedMatching MONDO:0018608 pure autonomic failure skos:exactMatch UMLS:C0393911 semapv:UnspecifiedMatching MONDO:0018608 pure autonomic failure skos:exactMatch icd11.foundation:734022291 Pure autonomic nervous system failure semapv:UnspecifiedMatching MONDO:0018608 pure autonomic failure skos:exactMatch mesh:D054970 semapv:UnspecifiedMatching MONDO:0018609 obsolete syndromic hereditary optic neuropathy skos:exactMatch Orphanet:441434 Syndromic hereditary optic neuropathy semapv:UnspecifiedMatching MONDO:0018610 early-onset posterior subcapsular cataract skos:exactMatch MEDGEN:1842187 semapv:UnspecifiedMatching MONDO:0018610 early-onset posterior subcapsular cataract skos:exactMatch Orphanet:441447 Early-onset posterior subcapsular cataract semapv:UnspecifiedMatching MONDO:0018610 early-onset posterior subcapsular cataract skos:exactMatch UMLS:C5681190 semapv:UnspecifiedMatching MONDO:0018611 early-onset lamellar cataract skos:exactMatch MEDGEN:1843303 semapv:UnspecifiedMatching MONDO:0018611 early-onset lamellar cataract skos:exactMatch Orphanet:441452 Early-onset lamellar cataract semapv:UnspecifiedMatching MONDO:0018611 early-onset lamellar cataract skos:exactMatch UMLS:C5681191 semapv:UnspecifiedMatching MONDO:0018612 congenital hypothyroidism skos:exactMatch DOID:0050328 congenital hypothyroidism semapv:UnspecifiedMatching MONDO:0018612 congenital hypothyroidism skos:exactMatch MEDGEN:41344 semapv:UnspecifiedMatching MONDO:0018612 congenital hypothyroidism skos:exactMatch NCIT:C26734 Congenital Hypothyroidism semapv:UnspecifiedMatching MONDO:0018612 congenital hypothyroidism skos:exactMatch Orphanet:442 Congenital hypothyroidism semapv:UnspecifiedMatching MONDO:0018612 congenital hypothyroidism skos:exactMatch SCTID:190268003 semapv:UnspecifiedMatching MONDO:0018612 congenital hypothyroidism skos:exactMatch SCTID:217710005 semapv:UnspecifiedMatching MONDO:0018612 congenital hypothyroidism skos:exactMatch UMLS:C0010308 semapv:UnspecifiedMatching MONDO:0018612 congenital hypothyroidism skos:exactMatch icd11.foundation:602450215 Congenital hypothyroidism semapv:UnspecifiedMatching MONDO:0018612 congenital hypothyroidism skos:exactMatch mesh:D003409 semapv:UnspecifiedMatching MONDO:0018613 AH amyloidosis skos:exactMatch DOID:0080934 immunoglobulin heavy chain amyloidosis semapv:UnspecifiedMatching MONDO:0018613 AH amyloidosis skos:exactMatch MEDGEN:1684787 semapv:UnspecifiedMatching MONDO:0018613 AH amyloidosis skos:exactMatch NCIT:C158962 AH Amyloidosis semapv:UnspecifiedMatching MONDO:0018613 AH amyloidosis skos:exactMatch Orphanet:442582 AH amyloidosis semapv:UnspecifiedMatching MONDO:0018613 AH amyloidosis skos:exactMatch UMLS:C5204115 semapv:UnspecifiedMatching MONDO:0018613 AH amyloidosis skos:exactMatch icd11.foundation:1511136608 AH amyloidosis semapv:UnspecifiedMatching MONDO:0018614 undetermined early-onset epileptic encephalopathy skos:exactMatch MEDGEN:1826068 semapv:UnspecifiedMatching MONDO:0018614 undetermined early-onset epileptic encephalopathy skos:exactMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:UnspecifiedMatching MONDO:0018614 undetermined early-onset epileptic encephalopathy skos:exactMatch UMLS:C5680057 semapv:UnspecifiedMatching MONDO:0018615 hemicrania continua skos:exactMatch ICD10CM:G44.51 Hemicrania continua semapv:UnspecifiedMatching MONDO:0018615 hemicrania continua skos:exactMatch MEDGEN:748511 semapv:UnspecifiedMatching MONDO:0018615 hemicrania continua skos:exactMatch Orphanet:443070 Hemicrania continua semapv:UnspecifiedMatching MONDO:0018615 hemicrania continua skos:exactMatch SCTID:443095000 semapv:UnspecifiedMatching MONDO:0018615 hemicrania continua skos:exactMatch UMLS:C2349425 semapv:UnspecifiedMatching MONDO:0018615 hemicrania continua skos:exactMatch icd11.foundation:1093161847 Hemicrania continua semapv:UnspecifiedMatching MONDO:0018616 central serous chorioretinopathy skos:exactMatch ICD10CM:H35.71 Central serous chorioretinopathy semapv:UnspecifiedMatching MONDO:0018616 central serous chorioretinopathy skos:exactMatch MEDGEN:147591 semapv:UnspecifiedMatching MONDO:0018616 central serous chorioretinopathy skos:exactMatch NCIT:C115124 Central Serous Chorioretinopathy semapv:UnspecifiedMatching MONDO:0018616 central serous chorioretinopathy skos:exactMatch Orphanet:443079 Central serous chorioretinopathy semapv:UnspecifiedMatching MONDO:0018616 central serous chorioretinopathy skos:exactMatch SCTID:312956001 semapv:UnspecifiedMatching MONDO:0018616 central serous chorioretinopathy skos:exactMatch UMLS:C0730328 semapv:UnspecifiedMatching MONDO:0018616 central serous chorioretinopathy skos:exactMatch icd11.foundation:1623925689 Central serous chorioretinopathy semapv:UnspecifiedMatching MONDO:0018616 central serous chorioretinopathy skos:exactMatch mesh:D056833 semapv:UnspecifiedMatching MONDO:0018617 baroreflex failure skos:exactMatch MEDGEN:742620 semapv:UnspecifiedMatching MONDO:0018617 baroreflex failure skos:exactMatch Orphanet:443084 Baroreflex failure semapv:UnspecifiedMatching MONDO:0018617 baroreflex failure skos:exactMatch UMLS:C1959798 semapv:UnspecifiedMatching MONDO:0018617 baroreflex failure skos:exactMatch icd11.foundation:880662615 Baroreflex failure semapv:UnspecifiedMatching MONDO:0018618 obsolete 46,XY disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect skos:exactMatch Orphanet:443090 46,XY difference of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect semapv:UnspecifiedMatching MONDO:0018620 hypothalamic adipsic hypernatraemia syndrome skos:exactMatch MEDGEN:1814472 semapv:UnspecifiedMatching MONDO:0018620 hypothalamic adipsic hypernatraemia syndrome skos:exactMatch Orphanet:443101 Hypothalamic adipsic hypernatraemia syndrome semapv:UnspecifiedMatching MONDO:0018620 hypothalamic adipsic hypernatraemia syndrome skos:exactMatch UMLS:C5681196 semapv:UnspecifiedMatching MONDO:0018621 lymphoplasmacytic lymphoma without IgM production skos:exactMatch MEDGEN:1814446 semapv:UnspecifiedMatching MONDO:0018621 lymphoplasmacytic lymphoma without IgM production skos:exactMatch Orphanet:443159 Lymphoplasmacytic lymphoma without IgM production semapv:UnspecifiedMatching MONDO:0018621 lymphoplasmacytic lymphoma without IgM production skos:exactMatch UMLS:C5680061 semapv:UnspecifiedMatching MONDO:0018623 postpartum psychosis skos:exactMatch ICD10CM:F53 Mental and behavioral disorders associated with the puerperium, not elsewhere classified semapv:UnspecifiedMatching MONDO:0018623 postpartum psychosis skos:exactMatch ICD10CM:F53.1 Puerperal psychosis semapv:UnspecifiedMatching MONDO:0018623 postpartum psychosis skos:exactMatch MEDGEN:636162 semapv:UnspecifiedMatching MONDO:0018623 postpartum psychosis skos:exactMatch Orphanet:443173 Postpartum psychosis semapv:UnspecifiedMatching MONDO:0018623 postpartum psychosis skos:exactMatch SCTID:18260003 semapv:UnspecifiedMatching MONDO:0018623 postpartum psychosis skos:exactMatch UMLS:C0520678 semapv:UnspecifiedMatching MONDO:0018624 spontaneous intracranial hypotension skos:exactMatch MEDGEN:155914 semapv:UnspecifiedMatching MONDO:0018624 spontaneous intracranial hypotension skos:exactMatch Orphanet:443180 Spontaneous intracranial hypotension semapv:UnspecifiedMatching MONDO:0018624 spontaneous intracranial hypotension skos:exactMatch UMLS:C0751731 semapv:UnspecifiedMatching MONDO:0018624 spontaneous intracranial hypotension skos:exactMatch icd11.foundation:1304151002 Spontaneous intracranial hypotension semapv:UnspecifiedMatching MONDO:0018625 classic stiff person syndrome skos:exactMatch MEDGEN:1842410 semapv:UnspecifiedMatching MONDO:0018625 classic stiff person syndrome skos:exactMatch Orphanet:443192 Classic stiff person syndrome semapv:UnspecifiedMatching MONDO:0018625 classic stiff person syndrome skos:exactMatch UMLS:C5680058 semapv:UnspecifiedMatching MONDO:0018626 paratyphoid fever skos:exactMatch DOID:3055 paratyphoid fever semapv:UnspecifiedMatching MONDO:0018626 paratyphoid fever skos:exactMatch EFO:0007420 semapv:UnspecifiedMatching MONDO:0018626 paratyphoid fever skos:exactMatch MEDGEN:18303 semapv:UnspecifiedMatching MONDO:0018626 paratyphoid fever skos:exactMatch NCIT:C34897 Paratyphoid Fever semapv:UnspecifiedMatching MONDO:0018626 paratyphoid fever skos:exactMatch Orphanet:443227 Paratyphoid fever semapv:UnspecifiedMatching MONDO:0018626 paratyphoid fever skos:exactMatch SCTID:51254007 semapv:UnspecifiedMatching MONDO:0018626 paratyphoid fever skos:exactMatch UMLS:C0030528 semapv:UnspecifiedMatching MONDO:0018626 paratyphoid fever skos:exactMatch icd11.foundation:1780040028 Paratyphoid fever semapv:UnspecifiedMatching MONDO:0018626 paratyphoid fever skos:exactMatch mesh:D010284 semapv:UnspecifiedMatching MONDO:0018627 obsolete ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor skos:exactMatch Orphanet:443287 OBSOLETE: ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor semapv:UnspecifiedMatching MONDO:0018628 HIV-associated cancer skos:exactMatch MEDGEN:1843219 semapv:UnspecifiedMatching MONDO:0018628 HIV-associated cancer skos:exactMatch NCIT:C4046 AIDS-Related Malignant Neoplasm semapv:UnspecifiedMatching MONDO:0018628 HIV-associated cancer skos:exactMatch Orphanet:443291 HIV-associated cancer semapv:UnspecifiedMatching MONDO:0018628 HIV-associated cancer skos:exactMatch UMLS:C5680059 semapv:UnspecifiedMatching MONDO:0018629 focal stiff limb syndrome skos:exactMatch MEDGEN:1672496 semapv:UnspecifiedMatching MONDO:0018629 focal stiff limb syndrome skos:exactMatch Orphanet:443804 Focal stiff limb syndrome semapv:UnspecifiedMatching MONDO:0018629 focal stiff limb syndrome skos:exactMatch UMLS:C4324606 semapv:UnspecifiedMatching MONDO:0018630 hereditary nonpolyposis colon cancer skos:exactMatch MEDGEN:232602 semapv:UnspecifiedMatching MONDO:0018630 hereditary nonpolyposis colon cancer skos:exactMatch NCIT:C120083 Hereditary Nonpolyposis Colorectal Cancer Syndrome semapv:UnspecifiedMatching MONDO:0018630 hereditary nonpolyposis colon cancer skos:exactMatch OMIMPS:120435 Colorectal cancer, hereditary nonpolyposis semapv:UnspecifiedMatching MONDO:0018630 hereditary nonpolyposis colon cancer skos:exactMatch Orphanet:443909 Hereditary nonpolyposis colon cancer semapv:UnspecifiedMatching MONDO:0018630 hereditary nonpolyposis colon cancer skos:exactMatch SCTID:315058005 semapv:UnspecifiedMatching MONDO:0018630 hereditary nonpolyposis colon cancer skos:exactMatch UMLS:C1333990 semapv:UnspecifiedMatching MONDO:0018630 hereditary nonpolyposis colon cancer skos:exactMatch icd11.foundation:8113015 Hereditary nonpolyposis colorectal cancer semapv:UnspecifiedMatching MONDO:0018631 Marie Unna hereditary hypotrichosis skos:exactMatch MEDGEN:419706 semapv:UnspecifiedMatching MONDO:0018631 Marie Unna hereditary hypotrichosis skos:exactMatch Orphanet:444 Marie Unna hereditary hypotrichosis semapv:UnspecifiedMatching MONDO:0018631 Marie Unna hereditary hypotrichosis skos:exactMatch UMLS:C2931059 semapv:UnspecifiedMatching MONDO:0018631 Marie Unna hereditary hypotrichosis skos:exactMatch mesh:C535912 semapv:UnspecifiedMatching MONDO:0018632 11q22.2q22.3 microdeletion syndrome skos:exactMatch MEDGEN:1805294 semapv:UnspecifiedMatching MONDO:0018632 11q22.2q22.3 microdeletion syndrome skos:exactMatch Orphanet:444002 11q22.2q22.3 microdeletion syndrome semapv:UnspecifiedMatching MONDO:0018632 11q22.2q22.3 microdeletion syndrome skos:exactMatch UMLS:C5680062 semapv:UnspecifiedMatching MONDO:0018633 20q11.2 microdeletion syndrome skos:exactMatch MEDGEN:1810637 semapv:UnspecifiedMatching MONDO:0018633 20q11.2 microdeletion syndrome skos:exactMatch Orphanet:444051 20q11.2 microdeletion syndrome semapv:UnspecifiedMatching MONDO:0018633 20q11.2 microdeletion syndrome skos:exactMatch UMLS:C5680063 semapv:UnspecifiedMatching MONDO:0018634 hereditary amyloidosis skos:exactMatch MEDGEN:148146 semapv:UnspecifiedMatching MONDO:0018634 hereditary amyloidosis skos:exactMatch NCIT:C84555 Hereditary Amyloidosis semapv:UnspecifiedMatching MONDO:0018634 hereditary amyloidosis skos:exactMatch Orphanet:444116 Hereditary amyloidosis semapv:UnspecifiedMatching MONDO:0018634 hereditary amyloidosis skos:exactMatch SCTID:367601000119103 semapv:UnspecifiedMatching MONDO:0018634 hereditary amyloidosis skos:exactMatch UMLS:C0740340 semapv:UnspecifiedMatching MONDO:0018634 hereditary amyloidosis skos:exactMatch icd11.foundation:1152878652 Hereditary amyloidosis semapv:UnspecifiedMatching MONDO:0018634 hereditary amyloidosis skos:exactMatch mesh:D028226 semapv:UnspecifiedMatching MONDO:0018635 idiopathic phalangeal acro-osteolysis skos:exactMatch MEDGEN:1803504 semapv:UnspecifiedMatching MONDO:0018635 idiopathic phalangeal acro-osteolysis skos:exactMatch Orphanet:444316 Idiopathic phalangeal acro-osteolysis semapv:UnspecifiedMatching MONDO:0018635 idiopathic phalangeal acro-osteolysis skos:exactMatch UMLS:C5680064 semapv:UnspecifiedMatching MONDO:0018636 autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome skos:exactMatch Orphanet:444463 Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency semapv:UnspecifiedMatching MONDO:0018637 familial chylomicronemia syndrome skos:exactMatch DOID:0111417 familial chylomicronemia syndrome semapv:UnspecifiedMatching MONDO:0018637 familial chylomicronemia syndrome skos:exactMatch MEDGEN:1778100 semapv:UnspecifiedMatching MONDO:0018637 familial chylomicronemia syndrome skos:exactMatch Orphanet:444490 Familial chylomicronemia syndrome semapv:UnspecifiedMatching MONDO:0018637 familial chylomicronemia syndrome skos:exactMatch UMLS:C5442313 semapv:UnspecifiedMatching MONDO:0018638 pseudohypoaldosteronism skos:exactMatch DOID:4479 pseudohypoaldosteronism semapv:UnspecifiedMatching MONDO:0018638 pseudohypoaldosteronism skos:exactMatch MEDGEN:18721 semapv:UnspecifiedMatching MONDO:0018638 pseudohypoaldosteronism skos:exactMatch NCIT:C85034 Pseudohypoaldosteronism semapv:UnspecifiedMatching MONDO:0018638 pseudohypoaldosteronism skos:exactMatch Orphanet:444916 Pseudohypoaldosteronism semapv:UnspecifiedMatching MONDO:0018638 pseudohypoaldosteronism skos:exactMatch SCTID:77098009 semapv:UnspecifiedMatching MONDO:0018638 pseudohypoaldosteronism skos:exactMatch UMLS:C0033805 semapv:UnspecifiedMatching MONDO:0018638 pseudohypoaldosteronism skos:exactMatch mesh:D011546 semapv:UnspecifiedMatching MONDO:0018639 caudal regression-sirenomelia spectrum skos:exactMatch MEDGEN:1843168 semapv:UnspecifiedMatching MONDO:0018639 caudal regression-sirenomelia spectrum skos:exactMatch Orphanet:444941 Caudal regression-sirenomelia spectrum semapv:UnspecifiedMatching MONDO:0018639 caudal regression-sirenomelia spectrum skos:exactMatch UMLS:C5681198 semapv:UnspecifiedMatching MONDO:0018640 secondary vasculitis skos:exactMatch MEDGEN:1842960 semapv:UnspecifiedMatching MONDO:0018640 secondary vasculitis skos:exactMatch Orphanet:445197 Secondary vasculitis semapv:UnspecifiedMatching MONDO:0018640 secondary vasculitis skos:exactMatch UMLS:C5681200 semapv:UnspecifiedMatching MONDO:0018642 NIK deficiency skos:exactMatch MEDGEN:1808868 semapv:UnspecifiedMatching MONDO:0018642 NIK deficiency skos:exactMatch Orphanet:447731 NIK deficiency semapv:UnspecifiedMatching MONDO:0018642 NIK deficiency skos:exactMatch UMLS:C5680065 semapv:UnspecifiedMatching MONDO:0018643 susceptibility to localized juvenile periodontitis skos:exactMatch MEDGEN:1812489 semapv:UnspecifiedMatching MONDO:0018643 susceptibility to localized juvenile periodontitis skos:exactMatch Orphanet:447740 Aggressive periodontitis semapv:UnspecifiedMatching MONDO:0018643 susceptibility to localized juvenile periodontitis skos:exactMatch UMLS:C5681199 semapv:UnspecifiedMatching MONDO:0018644 autosomal dominant complex spastic paraplegia type 9B skos:exactMatch MEDGEN:1800402 semapv:UnspecifiedMatching MONDO:0018644 autosomal dominant complex spastic paraplegia type 9B skos:exactMatch Orphanet:447757 Autosomal dominant spastic paraplegia type 9B semapv:UnspecifiedMatching MONDO:0018644 autosomal dominant complex spastic paraplegia type 9B skos:exactMatch UMLS:C5568979 semapv:UnspecifiedMatching MONDO:0018645 IgG4-related sclerosing cholangitis skos:exactMatch MEDGEN:927778 semapv:UnspecifiedMatching MONDO:0018645 IgG4-related sclerosing cholangitis skos:exactMatch Orphanet:447764 IgG4-related sclerosing cholangitis semapv:UnspecifiedMatching MONDO:0018645 IgG4-related sclerosing cholangitis skos:exactMatch SCTID:722870008 semapv:UnspecifiedMatching MONDO:0018645 IgG4-related sclerosing cholangitis skos:exactMatch UMLS:C4302109 semapv:UnspecifiedMatching MONDO:0018645 IgG4-related sclerosing cholangitis skos:exactMatch icd11.foundation:1676971795 IgG4-related sclerosing cholangitis semapv:UnspecifiedMatching MONDO:0018646 sclerosing cholangitis skos:exactMatch DOID:14268 sclerosing cholangitis semapv:UnspecifiedMatching MONDO:0018646 sclerosing cholangitis skos:exactMatch EFO:0004268 semapv:UnspecifiedMatching MONDO:0018646 sclerosing cholangitis skos:exactMatch MEDGEN:3036 semapv:UnspecifiedMatching MONDO:0018646 sclerosing cholangitis skos:exactMatch NCIT:C4828 Primary Sclerosing Cholangitis semapv:UnspecifiedMatching MONDO:0018646 sclerosing cholangitis skos:exactMatch Orphanet:447771 Sclerosing cholangitis semapv:UnspecifiedMatching MONDO:0018646 sclerosing cholangitis skos:exactMatch SCTID:235917005 semapv:UnspecifiedMatching MONDO:0018646 sclerosing cholangitis skos:exactMatch UMLS:C0008313 semapv:UnspecifiedMatching MONDO:0018647 secondary sclerosing cholangitis skos:exactMatch MEDGEN:586530 semapv:UnspecifiedMatching MONDO:0018647 secondary sclerosing cholangitis skos:exactMatch Orphanet:447774 Secondary sclerosing cholangitis semapv:UnspecifiedMatching MONDO:0018647 secondary sclerosing cholangitis skos:exactMatch SCTID:197442005 semapv:UnspecifiedMatching MONDO:0018647 secondary sclerosing cholangitis skos:exactMatch UMLS:C0400978 semapv:UnspecifiedMatching MONDO:0018648 Keratocystic odontogenic tumor skos:exactMatch MEDGEN:313330 semapv:UnspecifiedMatching MONDO:0018648 Keratocystic odontogenic tumor skos:exactMatch NCIT:C54302 Odontogenic Keratocyst semapv:UnspecifiedMatching MONDO:0018648 Keratocystic odontogenic tumor skos:exactMatch Orphanet:447777 Keratocystic odontogenic tumor semapv:UnspecifiedMatching MONDO:0018648 Keratocystic odontogenic tumor skos:exactMatch SCTID:713277006 semapv:UnspecifiedMatching MONDO:0018648 Keratocystic odontogenic tumor skos:exactMatch UMLS:C1708604 semapv:UnspecifiedMatching MONDO:0018649 obsolete cerebral visual impairment skos:exactMatch SCTID:413924001 semapv:UnspecifiedMatching MONDO:0018652 obsolete biological anomaly without phenotypic characterization skos:exactMatch Orphanet:447874 Biological anomaly without phenotypic characterization semapv:UnspecifiedMatching MONDO:0018653 Polymerase proofreading-related adenomatous polyposis skos:exactMatch MEDGEN:1687472 semapv:UnspecifiedMatching MONDO:0018653 Polymerase proofreading-related adenomatous polyposis skos:exactMatch NCIT:C162484 Polymerase Proofreading Associated Polyposis semapv:UnspecifiedMatching MONDO:0018653 Polymerase proofreading-related adenomatous polyposis skos:exactMatch Orphanet:447877 Polymerase proofreading-related polyposis semapv:UnspecifiedMatching MONDO:0018653 Polymerase proofreading-related adenomatous polyposis skos:exactMatch UMLS:C5202613 semapv:UnspecifiedMatching MONDO:0018654 idiopathic dropped head syndrome skos:exactMatch EFO:1001987 semapv:UnspecifiedMatching MONDO:0018654 idiopathic dropped head syndrome skos:exactMatch Orphanet:447881 Idiopathic dropped head syndrome semapv:UnspecifiedMatching MONDO:0018655 hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome skos:exactMatch MEDGEN:1842862 semapv:UnspecifiedMatching MONDO:0018655 hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome skos:exactMatch Orphanet:447893 Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome semapv:UnspecifiedMatching MONDO:0018655 hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome skos:exactMatch UMLS:C5681201 semapv:UnspecifiedMatching MONDO:0018656 tremor-ataxia-central hypomyelination syndrome skos:exactMatch MEDGEN:1842823 semapv:UnspecifiedMatching MONDO:0018656 tremor-ataxia-central hypomyelination syndrome skos:exactMatch Orphanet:447896 Tremor-ataxia-central hypomyelination syndrome semapv:UnspecifiedMatching MONDO:0018656 tremor-ataxia-central hypomyelination syndrome skos:exactMatch UMLS:C5680067 semapv:UnspecifiedMatching MONDO:0018657 pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome skos:exactMatch MEDGEN:1807813 semapv:UnspecifiedMatching MONDO:0018657 pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome skos:exactMatch OMIM:618373 cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma semapv:UnspecifiedMatching MONDO:0018657 pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome skos:exactMatch Orphanet:447961 Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome semapv:UnspecifiedMatching MONDO:0018657 pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome skos:exactMatch UMLS:C5681108 semapv:UnspecifiedMatching MONDO:0018658 19p13.3 microduplication syndrome skos:exactMatch MEDGEN:1807189 semapv:UnspecifiedMatching MONDO:0018658 19p13.3 microduplication syndrome skos:exactMatch Orphanet:447980 19p13.3 microduplication syndrome semapv:UnspecifiedMatching MONDO:0018658 19p13.3 microduplication syndrome skos:exactMatch UMLS:C5679996 semapv:UnspecifiedMatching MONDO:0018659 partial duplication of the short arm of chromosome 19 skos:exactMatch MEDGEN:1380854 semapv:UnspecifiedMatching MONDO:0018659 partial duplication of the short arm of chromosome 19 skos:exactMatch Orphanet:447985 Partial duplication of the short arm of chromosome 19 syndrome semapv:UnspecifiedMatching MONDO:0018659 partial duplication of the short arm of chromosome 19 skos:exactMatch UMLS:C4518508 semapv:UnspecifiedMatching MONDO:0018660 hemophilia skos:exactMatch DOID:0061030 hemophilia semapv:UnspecifiedMatching MONDO:0018660 hemophilia skos:exactMatch MEDGEN:146334 semapv:UnspecifiedMatching MONDO:0018660 hemophilia skos:exactMatch NCIT:C3093 Hemophilia semapv:UnspecifiedMatching MONDO:0018660 hemophilia skos:exactMatch Orphanet:448 Hemophilia semapv:UnspecifiedMatching MONDO:0018660 hemophilia skos:exactMatch SCTID:90935002 semapv:UnspecifiedMatching MONDO:0018660 hemophilia skos:exactMatch UMLS:C0684275 semapv:UnspecifiedMatching MONDO:0018661 Zika virus infectious disease skos:exactMatch DOID:0060478 Zika fever semapv:UnspecifiedMatching MONDO:0018661 Zika virus infectious disease skos:exactMatch ICD10CM:A92.5 Zika virus disease semapv:UnspecifiedMatching MONDO:0018661 Zika virus infectious disease skos:exactMatch MEDGEN:547236 semapv:UnspecifiedMatching MONDO:0018661 Zika virus infectious disease skos:exactMatch NCIT:C128423 Zika Virus Infection semapv:UnspecifiedMatching MONDO:0018661 Zika virus infectious disease skos:exactMatch Orphanet:448237 Zika virus disease semapv:UnspecifiedMatching MONDO:0018661 Zika virus infectious disease skos:exactMatch SCTID:3928002 semapv:UnspecifiedMatching MONDO:0018661 Zika virus infectious disease skos:exactMatch UMLS:C0276289 semapv:UnspecifiedMatching MONDO:0018661 Zika virus infectious disease skos:exactMatch icd11.foundation:1401438580 Zika virus disease semapv:UnspecifiedMatching MONDO:0018661 Zika virus infectious disease skos:exactMatch mesh:D000071243 semapv:UnspecifiedMatching MONDO:0018662 autosomal recessive brachyolmia skos:exactMatch MEDGEN:1675807 semapv:UnspecifiedMatching MONDO:0018662 autosomal recessive brachyolmia skos:exactMatch Orphanet:448242 Autosomal recessive brachyolmia semapv:UnspecifiedMatching MONDO:0018662 autosomal recessive brachyolmia skos:exactMatch UMLS:C4760908 semapv:UnspecifiedMatching MONDO:0018662 autosomal recessive brachyolmia skos:exactMatch icd11.foundation:625421044 Autosomal recessive brachyolmia semapv:UnspecifiedMatching MONDO:0018663 regressive spondylometaphyseal dysplasia skos:exactMatch MEDGEN:1648288 semapv:UnspecifiedMatching MONDO:0018663 regressive spondylometaphyseal dysplasia skos:exactMatch OMIM:618019 rhizomelic skeletal dysplasia with or without pelger-huet anomaly semapv:UnspecifiedMatching MONDO:0018663 regressive spondylometaphyseal dysplasia skos:exactMatch Orphanet:448267 Regressive spondylometaphyseal dysplasia semapv:UnspecifiedMatching MONDO:0018663 regressive spondylometaphyseal dysplasia skos:exactMatch UMLS:C4747922 semapv:UnspecifiedMatching MONDO:0018664 ectopia cordis skos:exactMatch MEDGEN:41703 semapv:UnspecifiedMatching MONDO:0018664 ectopia cordis skos:exactMatch NCIT:C111643 Ectopia Cordis semapv:UnspecifiedMatching MONDO:0018664 ectopia cordis skos:exactMatch Orphanet:448270 Ectopia cordis semapv:UnspecifiedMatching MONDO:0018664 ectopia cordis skos:exactMatch SCTID:78250005 semapv:UnspecifiedMatching MONDO:0018664 ectopia cordis skos:exactMatch UMLS:C0013580 semapv:UnspecifiedMatching MONDO:0018664 ectopia cordis skos:exactMatch icd11.foundation:285576893 Extrathoracic heart semapv:UnspecifiedMatching MONDO:0018664 ectopia cordis skos:exactMatch mesh:D054083 semapv:UnspecifiedMatching MONDO:0018665 obsolete X-linked acrogigantism due to a point mutation skos:exactMatch Orphanet:448348 OBSOLETE: X-linked acrogigantism due to a point mutation semapv:UnspecifiedMatching MONDO:0018666 hepatoblastoma skos:exactMatch DOID:687 hepatoblastoma semapv:UnspecifiedMatching MONDO:0018666 hepatoblastoma skos:exactMatch EFO:1000292 semapv:UnspecifiedMatching MONDO:0018666 hepatoblastoma skos:exactMatch ICD10CM:C22.2 Hepatoblastoma semapv:UnspecifiedMatching MONDO:0018666 hepatoblastoma skos:exactMatch MEDGEN:61644 semapv:UnspecifiedMatching MONDO:0018666 hepatoblastoma skos:exactMatch NCIT:C3728 Hepatoblastoma semapv:UnspecifiedMatching MONDO:0018666 hepatoblastoma skos:exactMatch Orphanet:449 Hepatoblastoma semapv:UnspecifiedMatching MONDO:0018666 hepatoblastoma skos:exactMatch UMLS:C0206624 semapv:UnspecifiedMatching MONDO:0018666 hepatoblastoma skos:exactMatch icd11.foundation:1241693063 semapv:UnspecifiedMatching MONDO:0018666 hepatoblastoma skos:exactMatch icd11.foundation:1556608523 Hepatoblastoma semapv:UnspecifiedMatching MONDO:0018666 hepatoblastoma skos:exactMatch mesh:D018197 semapv:UnspecifiedMatching MONDO:0018667 pleural empyema skos:exactMatch DOID:3798 pleural empyema semapv:UnspecifiedMatching MONDO:0018667 pleural empyema skos:exactMatch EFO:0009680 semapv:UnspecifiedMatching MONDO:0018667 pleural empyema skos:exactMatch MEDGEN:4928 semapv:UnspecifiedMatching MONDO:0018667 pleural empyema skos:exactMatch Orphanet:449266 Pleural empyema semapv:UnspecifiedMatching MONDO:0018667 pleural empyema skos:exactMatch SCTID:405950009 semapv:UnspecifiedMatching MONDO:0018667 pleural empyema skos:exactMatch UMLS:C0014013 semapv:UnspecifiedMatching MONDO:0018667 pleural empyema skos:exactMatch mesh:D016724 semapv:UnspecifiedMatching MONDO:0018668 scedosporiosis skos:exactMatch MEDGEN:1713603 semapv:UnspecifiedMatching MONDO:0018668 scedosporiosis skos:exactMatch Orphanet:449280 Scedosporiosis semapv:UnspecifiedMatching MONDO:0018668 scedosporiosis skos:exactMatch UMLS:C1142170 semapv:UnspecifiedMatching MONDO:0018668 scedosporiosis skos:exactMatch icd11.foundation:807637046 Scedosporiosis semapv:UnspecifiedMatching MONDO:0018668 scedosporiosis skos:exactMatch mesh:C000656924 semapv:UnspecifiedMatching MONDO:0018669 snakebite envenomation skos:exactMatch Orphanet:449285 Snakebite envenomation semapv:UnspecifiedMatching MONDO:0018669 snakebite envenomation skos:exactMatch SCTID:61288004 semapv:UnspecifiedMatching MONDO:0018670 symptomatic form of fragile X syndrome in female carrier skos:exactMatch MEDGEN:1814467 semapv:UnspecifiedMatching MONDO:0018670 symptomatic form of fragile X syndrome in female carrier skos:exactMatch UMLS:C5681104 semapv:UnspecifiedMatching MONDO:0018671 IgG4-related kidney disease skos:exactMatch MEDGEN:1708840 semapv:UnspecifiedMatching MONDO:0018671 IgG4-related kidney disease skos:exactMatch Orphanet:449395 IgG4-related kidney disease semapv:UnspecifiedMatching MONDO:0018671 IgG4-related kidney disease skos:exactMatch UMLS:C5392056 semapv:UnspecifiedMatching MONDO:0018671 IgG4-related kidney disease skos:exactMatch icd11.foundation:1877692678 IgG4-related kidney disease semapv:UnspecifiedMatching MONDO:0018672 IgG4-related aortitis skos:exactMatch MEDGEN:1800431 semapv:UnspecifiedMatching MONDO:0018672 IgG4-related aortitis skos:exactMatch Orphanet:449400 IgG4-related aortitis semapv:UnspecifiedMatching MONDO:0018672 IgG4-related aortitis skos:exactMatch UMLS:C5569008 semapv:UnspecifiedMatching MONDO:0018672 IgG4-related aortitis skos:exactMatch icd11.foundation:593151236 IgG4-related aortitis semapv:UnspecifiedMatching MONDO:0018673 IgG4-related pachymeningitis skos:exactMatch MEDGEN:1627405 semapv:UnspecifiedMatching MONDO:0018673 IgG4-related pachymeningitis skos:exactMatch Orphanet:449427 IgG4-related pachymeningitis semapv:UnspecifiedMatching MONDO:0018673 IgG4-related pachymeningitis skos:exactMatch SCTID:762282007 semapv:UnspecifiedMatching MONDO:0018673 IgG4-related pachymeningitis skos:exactMatch UMLS:C4545992 semapv:UnspecifiedMatching MONDO:0018673 IgG4-related pachymeningitis skos:exactMatch icd11.foundation:1140264879 IgG4-related pachymeningitis semapv:UnspecifiedMatching MONDO:0018674 IgG4-related submandibular gland disease skos:exactMatch MEDGEN:1830092 semapv:UnspecifiedMatching MONDO:0018674 IgG4-related submandibular gland disease skos:exactMatch NCIT:C82887 Chronic Sclerosing Sialadenitis semapv:UnspecifiedMatching MONDO:0018674 IgG4-related submandibular gland disease skos:exactMatch Orphanet:449432 IgG4-related submandibular gland disease semapv:UnspecifiedMatching MONDO:0018674 IgG4-related submandibular gland disease skos:exactMatch SCTID:448131008 semapv:UnspecifiedMatching MONDO:0018674 IgG4-related submandibular gland disease skos:exactMatch UMLS:C5679995 semapv:UnspecifiedMatching MONDO:0018674 IgG4-related submandibular gland disease skos:exactMatch icd11.foundation:588811750 IgG4-related submandibular gland disease semapv:UnspecifiedMatching MONDO:0018675 IgG4-related ophthalmic disorder skos:exactMatch MEDGEN:1800432 semapv:UnspecifiedMatching MONDO:0018675 IgG4-related ophthalmic disorder skos:exactMatch Orphanet:449563 IgG4-related ophthalmic disease semapv:UnspecifiedMatching MONDO:0018675 IgG4-related ophthalmic disorder skos:exactMatch UMLS:C5569009 semapv:UnspecifiedMatching MONDO:0018676 eosinophilic angiocentric fibrosis skos:exactMatch MEDGEN:1814179 semapv:UnspecifiedMatching MONDO:0018676 eosinophilic angiocentric fibrosis skos:exactMatch Orphanet:449566 Eosinophilic angiocentric fibrosis semapv:UnspecifiedMatching MONDO:0018676 eosinophilic angiocentric fibrosis skos:exactMatch UMLS:C5578050 semapv:UnspecifiedMatching MONDO:0018676 eosinophilic angiocentric fibrosis skos:exactMatch icd11.foundation:57609544 Eosinophilic angiocentric fibrosis semapv:UnspecifiedMatching MONDO:0018677 visceral heterotaxy skos:exactMatch DOID:0050545 visceral heterotaxy semapv:UnspecifiedMatching MONDO:0018677 visceral heterotaxy skos:exactMatch MEDGEN:465273 semapv:UnspecifiedMatching MONDO:0018677 visceral heterotaxy skos:exactMatch NCIT:C117273 Heterotaxy Syndrome semapv:UnspecifiedMatching MONDO:0018677 visceral heterotaxy skos:exactMatch OMIMPS:306955 Heterotaxy, visceral semapv:UnspecifiedMatching MONDO:0018677 visceral heterotaxy skos:exactMatch Orphanet:157769 Situs ambiguus semapv:UnspecifiedMatching MONDO:0018677 visceral heterotaxy skos:exactMatch Orphanet:450 Heterotaxia semapv:UnspecifiedMatching MONDO:0018677 visceral heterotaxy skos:exactMatch SCTID:14821001 semapv:UnspecifiedMatching MONDO:0018677 visceral heterotaxy skos:exactMatch UMLS:C3178805 semapv:UnspecifiedMatching MONDO:0018677 visceral heterotaxy skos:exactMatch icd11.foundation:780273165 Visceral heterotaxy semapv:UnspecifiedMatching MONDO:0018678 polyclonal hyperviscosity syndrome skos:exactMatch MEDGEN:1814466 semapv:UnspecifiedMatching MONDO:0018678 polyclonal hyperviscosity syndrome skos:exactMatch Orphanet:450322 Polyclonal hyperviscosity syndrome semapv:UnspecifiedMatching MONDO:0018678 polyclonal hyperviscosity syndrome skos:exactMatch UMLS:C5681102 semapv:UnspecifiedMatching MONDO:0018679 primary cutaneous plasmacytosis skos:exactMatch MEDGEN:1672491 semapv:UnspecifiedMatching MONDO:0018679 primary cutaneous plasmacytosis skos:exactMatch Orphanet:451602 Primary cutaneous plasmacytosis semapv:UnspecifiedMatching MONDO:0018679 primary cutaneous plasmacytosis skos:exactMatch UMLS:C4736227 semapv:UnspecifiedMatching MONDO:0018679 primary cutaneous plasmacytosis skos:exactMatch icd11.foundation:1669369613 Primary cutaneous plasmacytosis semapv:UnspecifiedMatching MONDO:0018680 cutaneous pseudolymphoma skos:exactMatch MEDGEN:81385 semapv:UnspecifiedMatching MONDO:0018680 cutaneous pseudolymphoma skos:exactMatch NCIT:C62776 Cutaneous Pseudolymphoma semapv:UnspecifiedMatching MONDO:0018680 cutaneous pseudolymphoma skos:exactMatch Orphanet:451607 Cutaneous pseudolymphoma semapv:UnspecifiedMatching MONDO:0018680 cutaneous pseudolymphoma skos:exactMatch SCTID:128862000 semapv:UnspecifiedMatching MONDO:0018680 cutaneous pseudolymphoma skos:exactMatch UMLS:C0311220 semapv:UnspecifiedMatching MONDO:0018680 cutaneous pseudolymphoma skos:exactMatch icd11.foundation:1620802923 Cutaneous pseudolymphoma semapv:UnspecifiedMatching MONDO:0018681 neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome skos:exactMatch Orphanet:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome semapv:UnspecifiedMatching MONDO:0018682 congenital insensitivity to pain with severe intellectual disability skos:exactMatch MEDGEN:1814444 semapv:UnspecifiedMatching MONDO:0018682 congenital insensitivity to pain with severe intellectual disability skos:exactMatch Orphanet:453510 Congenital insensitivity to pain with severe intellectual disability semapv:UnspecifiedMatching MONDO:0018682 congenital insensitivity to pain with severe intellectual disability skos:exactMatch UMLS:C5679994 semapv:UnspecifiedMatching MONDO:0018683 acquired ichthyosis skos:exactMatch ICD10CM:L85.0 Acquired ichthyosis semapv:UnspecifiedMatching MONDO:0018683 acquired ichthyosis skos:exactMatch MEDGEN:78092 semapv:UnspecifiedMatching MONDO:0018683 acquired ichthyosis skos:exactMatch NCIT:C112831 Ichthyosis Acquisita semapv:UnspecifiedMatching MONDO:0018683 acquired ichthyosis skos:exactMatch Orphanet:454 Acquired ichthyosis semapv:UnspecifiedMatching MONDO:0018683 acquired ichthyosis skos:exactMatch SCTID:8691004 semapv:UnspecifiedMatching MONDO:0018683 acquired ichthyosis skos:exactMatch UMLS:C0263386 semapv:UnspecifiedMatching MONDO:0018683 acquired ichthyosis skos:exactMatch icd11.foundation:1504032289 Acquired ichthyosis semapv:UnspecifiedMatching MONDO:0018683 acquired ichthyosis skos:exactMatch mesh:C538175 semapv:UnspecifiedMatching MONDO:0018684 idiopathic neonatal atrial flutter skos:exactMatch ICD10CM:P29.1 Neonatal cardiac dysrhythmia semapv:UnspecifiedMatching MONDO:0018684 idiopathic neonatal atrial flutter skos:exactMatch MEDGEN:904097 semapv:UnspecifiedMatching MONDO:0018684 idiopathic neonatal atrial flutter skos:exactMatch Orphanet:45452 Idiopathic neonatal atrial flutter semapv:UnspecifiedMatching MONDO:0018684 idiopathic neonatal atrial flutter skos:exactMatch SCTID:715560009 semapv:UnspecifiedMatching MONDO:0018684 idiopathic neonatal atrial flutter skos:exactMatch UMLS:C4275090 semapv:UnspecifiedMatching MONDO:0018684 idiopathic neonatal atrial flutter skos:exactMatch icd11.foundation:208964573 Idiopathic neonatal atrial flutter semapv:UnspecifiedMatching MONDO:0018685 incessant infant ventricular tachycardia skos:exactMatch MEDGEN:573762 semapv:UnspecifiedMatching MONDO:0018685 incessant infant ventricular tachycardia skos:exactMatch Orphanet:45453 Incessant infant ventricular tachycardia semapv:UnspecifiedMatching MONDO:0018685 incessant infant ventricular tachycardia skos:exactMatch SCTID:233908008 semapv:UnspecifiedMatching MONDO:0018685 incessant infant ventricular tachycardia skos:exactMatch UMLS:C0340487 semapv:UnspecifiedMatching MONDO:0018685 incessant infant ventricular tachycardia skos:exactMatch icd11.foundation:1364925734 Incessant infant ventricular tachycardia semapv:UnspecifiedMatching MONDO:0018686 acquired Creutzfeldt-Jakob disease skos:exactMatch MEDGEN:1826177 semapv:UnspecifiedMatching MONDO:0018686 acquired Creutzfeldt-Jakob disease skos:exactMatch Orphanet:454700 Acquired Creutzfeldt-Jakob disease semapv:UnspecifiedMatching MONDO:0018686 acquired Creutzfeldt-Jakob disease skos:exactMatch UMLS:C5681100 semapv:UnspecifiedMatching MONDO:0018686 acquired Creutzfeldt-Jakob disease skos:exactMatch mesh:C538481 semapv:UnspecifiedMatching MONDO:0018687 progressive muscular atrophy skos:exactMatch DOID:318 progressive muscular atrophy semapv:UnspecifiedMatching MONDO:0018687 progressive muscular atrophy skos:exactMatch MEDGEN:906831 semapv:UnspecifiedMatching MONDO:0018687 progressive muscular atrophy skos:exactMatch NCIT:C85027 Progressive Muscular Atrophy semapv:UnspecifiedMatching MONDO:0018687 progressive muscular atrophy skos:exactMatch Orphanet:454706 Progressive muscular atrophy semapv:UnspecifiedMatching MONDO:0018687 progressive muscular atrophy skos:exactMatch SCTID:88923002 semapv:UnspecifiedMatching MONDO:0018687 progressive muscular atrophy skos:exactMatch UMLS:C4082951 semapv:UnspecifiedMatching MONDO:0018687 progressive muscular atrophy skos:exactMatch icd11.foundation:1282359533 Progressive muscular atrophy semapv:UnspecifiedMatching MONDO:0018688 anti-p200 pemphigoid skos:exactMatch MEDGEN:1802806 semapv:UnspecifiedMatching MONDO:0018688 anti-p200 pemphigoid skos:exactMatch Orphanet:454710 Anti-p200 pemphigoid semapv:UnspecifiedMatching MONDO:0018688 anti-p200 pemphigoid skos:exactMatch UMLS:C5681099 semapv:UnspecifiedMatching MONDO:0018689 plasma cell leukemia skos:exactMatch DOID:9513 plasma cell leukemia semapv:UnspecifiedMatching MONDO:0018689 plasma cell leukemia skos:exactMatch EFO:0006475 semapv:UnspecifiedMatching MONDO:0018689 plasma cell leukemia skos:exactMatch ICD10CM:C90.1 Plasma cell leukemia semapv:UnspecifiedMatching MONDO:0018689 plasma cell leukemia skos:exactMatch MEDGEN:9733 semapv:UnspecifiedMatching MONDO:0018689 plasma cell leukemia skos:exactMatch NCIT:C3180 Plasma Cell Leukemia semapv:UnspecifiedMatching MONDO:0018689 plasma cell leukemia skos:exactMatch Orphanet:454714 Plasma cell leukemia semapv:UnspecifiedMatching MONDO:0018689 plasma cell leukemia skos:exactMatch SCTID:95210003 semapv:UnspecifiedMatching MONDO:0018689 plasma cell leukemia skos:exactMatch UMLS:C0023484 semapv:UnspecifiedMatching MONDO:0018689 plasma cell leukemia skos:exactMatch icd11.foundation:2048216430 Plasma cell leukaemia semapv:UnspecifiedMatching MONDO:0018689 plasma cell leukemia skos:exactMatch mesh:D007952 semapv:UnspecifiedMatching MONDO:0018690 Holmes-Adie syndrome skos:exactMatch DOID:11549 Adie syndrome semapv:UnspecifiedMatching MONDO:0018690 Holmes-Adie syndrome skos:exactMatch EFO:0004126 semapv:UnspecifiedMatching MONDO:0018690 Holmes-Adie syndrome skos:exactMatch MEDGEN:138 semapv:UnspecifiedMatching MONDO:0018690 Holmes-Adie syndrome skos:exactMatch NCIT:C34357 Holmes-Adie Syndrome semapv:UnspecifiedMatching MONDO:0018690 Holmes-Adie syndrome skos:exactMatch OMIM:103100 adie pupil semapv:UnspecifiedMatching MONDO:0018690 Holmes-Adie syndrome skos:exactMatch Orphanet:454718 Holmes-Adie syndrome semapv:UnspecifiedMatching MONDO:0018690 Holmes-Adie syndrome skos:exactMatch SCTID:24225004 semapv:UnspecifiedMatching MONDO:0018690 Holmes-Adie syndrome skos:exactMatch UMLS:C0001519 semapv:UnspecifiedMatching MONDO:0018690 Holmes-Adie syndrome skos:exactMatch mesh:D000270 semapv:UnspecifiedMatching MONDO:0018692 variably protease-sensitive prionopathy skos:exactMatch MEDGEN:929196 semapv:UnspecifiedMatching MONDO:0018692 variably protease-sensitive prionopathy skos:exactMatch Orphanet:454742 Variably protease-sensitive prionopathy semapv:UnspecifiedMatching MONDO:0018692 variably protease-sensitive prionopathy skos:exactMatch SCTID:721165001 semapv:UnspecifiedMatching MONDO:0018692 variably protease-sensitive prionopathy skos:exactMatch UMLS:C4303527 semapv:UnspecifiedMatching MONDO:0018692 variably protease-sensitive prionopathy skos:exactMatch icd11.foundation:172957869 Variably protease sensitive prionopathy semapv:UnspecifiedMatching MONDO:0018694 isolated tracheo-esophageal fistula skos:exactMatch NCIT:C35080 Tracheoesophageal Fistula semapv:UnspecifiedMatching MONDO:0018694 isolated tracheo-esophageal fistula skos:exactMatch Orphanet:454750 Isolated tracheoesophageal fistula semapv:UnspecifiedMatching MONDO:0018695 avian influenza skos:exactMatch DOID:4492 avian influenza semapv:UnspecifiedMatching MONDO:0018695 avian influenza skos:exactMatch EFO:0005222 semapv:UnspecifiedMatching MONDO:0018695 avian influenza skos:exactMatch MEDGEN:42091 semapv:UnspecifiedMatching MONDO:0018695 avian influenza skos:exactMatch Orphanet:454836 Avian influenza semapv:UnspecifiedMatching MONDO:0018695 avian influenza skos:exactMatch SCTID:55604004 semapv:UnspecifiedMatching MONDO:0018695 avian influenza skos:exactMatch UMLS:C0016627 semapv:UnspecifiedMatching MONDO:0018695 avian influenza skos:exactMatch mesh:D005585 semapv:UnspecifiedMatching MONDO:0018696 corticobasal syndrome skos:exactMatch DOID:0081392 corticobasal degeneration syndrome semapv:UnspecifiedMatching MONDO:0018696 corticobasal syndrome skos:exactMatch MEDGEN:1801322 semapv:UnspecifiedMatching MONDO:0018696 corticobasal syndrome skos:exactMatch Orphanet:454887 Corticobasal syndrome semapv:UnspecifiedMatching MONDO:0018696 corticobasal syndrome skos:exactMatch UMLS:C5575119 semapv:UnspecifiedMatching MONDO:0018697 1p35.2 microdeletion syndrome skos:exactMatch MEDGEN:1807819 semapv:UnspecifiedMatching MONDO:0018697 1p35.2 microdeletion syndrome skos:exactMatch Orphanet:456298 1p35.2 microdeletion syndrome semapv:UnspecifiedMatching MONDO:0018697 1p35.2 microdeletion syndrome skos:exactMatch UMLS:C5679992 semapv:UnspecifiedMatching MONDO:0018698 hereditary neuroendocrine tumor of small intestine skos:exactMatch MEDGEN:1826066 semapv:UnspecifiedMatching MONDO:0018698 hereditary neuroendocrine tumor of small intestine skos:exactMatch Orphanet:456333 Hereditary neuroendocrine tumor of small intestine semapv:UnspecifiedMatching MONDO:0018698 hereditary neuroendocrine tumor of small intestine skos:exactMatch UMLS:C5679993 semapv:UnspecifiedMatching MONDO:0018699 obsolete pseudohypoparathyroidism with Albright hereditary osteodystrophy skos:exactMatch Orphanet:457059 Pseudohypoparathyroidism with Albright hereditary osteodystrophy semapv:UnspecifiedMatching MONDO:0018700 obsolete pseudohypoparathyroidism without Albright hereditary osteodystrophy skos:exactMatch Orphanet:457062 Pseudohypoparathyroidism without Albright hereditary osteodystrophy semapv:UnspecifiedMatching MONDO:0018701 obsolete congenital nemaline myopathy skos:exactMatch Orphanet:457074 Congenital nemaline myopathy semapv:UnspecifiedMatching MONDO:0018702 Castleman-Kojima disease skos:exactMatch MEDGEN:1672503 semapv:UnspecifiedMatching MONDO:0018702 Castleman-Kojima disease skos:exactMatch Orphanet:457077 TAFRO syndrome semapv:UnspecifiedMatching MONDO:0018702 Castleman-Kojima disease skos:exactMatch UMLS:C4552543 semapv:UnspecifiedMatching MONDO:0018702 Castleman-Kojima disease skos:exactMatch icd11.foundation:1505841618 TAFRO syndrome semapv:UnspecifiedMatching MONDO:0018703 isolated splenogonadal fusion skos:exactMatch MEDGEN:82748 semapv:UnspecifiedMatching MONDO:0018703 isolated splenogonadal fusion skos:exactMatch Orphanet:457083 Isolated splenogonadal fusion semapv:UnspecifiedMatching MONDO:0018703 isolated splenogonadal fusion skos:exactMatch UMLS:C0266636 semapv:UnspecifiedMatching MONDO:0018705 infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome skos:exactMatch MEDGEN:1814445 semapv:UnspecifiedMatching MONDO:0018705 infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome skos:exactMatch Orphanet:457205 Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome semapv:UnspecifiedMatching MONDO:0018705 infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome skos:exactMatch UMLS:C5680002 semapv:UnspecifiedMatching MONDO:0018708 squamous cell carcinoma of the oral tongue skos:exactMatch NCIT:C8169 Anterior Tongue Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0018709 X-linked intellectual disability-hypotonia-movement disorder syndrome skos:exactMatch MEDGEN:1814468 semapv:UnspecifiedMatching MONDO:0018709 X-linked intellectual disability-hypotonia-movement disorder syndrome skos:exactMatch Orphanet:457260 X-linked intellectual disability-hypotonia-movement disorder syndrome semapv:UnspecifiedMatching MONDO:0018709 X-linked intellectual disability-hypotonia-movement disorder syndrome skos:exactMatch UMLS:C5681121 semapv:UnspecifiedMatching MONDO:0018710 megalencephaly-severe kyphoscoliosis-overgrowth syndrome skos:exactMatch MEDGEN:1814470 semapv:UnspecifiedMatching MONDO:0018710 megalencephaly-severe kyphoscoliosis-overgrowth syndrome skos:exactMatch Orphanet:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome semapv:UnspecifiedMatching MONDO:0018710 megalencephaly-severe kyphoscoliosis-overgrowth syndrome skos:exactMatch UMLS:C5681123 semapv:UnspecifiedMatching MONDO:0018711 intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome skos:exactMatch MEDGEN:1805563 semapv:UnspecifiedMatching MONDO:0018711 intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome skos:exactMatch Orphanet:457365 Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome semapv:UnspecifiedMatching MONDO:0018711 intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome skos:exactMatch UMLS:C5681124 semapv:UnspecifiedMatching MONDO:0018712 composite hemangioendothelioma skos:exactMatch MEDGEN:220987 semapv:UnspecifiedMatching MONDO:0018712 composite hemangioendothelioma skos:exactMatch NCIT:C45475 Composite Hemangioendothelioma semapv:UnspecifiedMatching MONDO:0018712 composite hemangioendothelioma skos:exactMatch Orphanet:458758 Composite hemangioendothelioma semapv:UnspecifiedMatching MONDO:0018712 composite hemangioendothelioma skos:exactMatch SCTID:403984006 semapv:UnspecifiedMatching MONDO:0018712 composite hemangioendothelioma skos:exactMatch UMLS:C1304513 semapv:UnspecifiedMatching MONDO:0018713 retiform hemangioendothelioma skos:exactMatch MEDGEN:266274 semapv:UnspecifiedMatching MONDO:0018713 retiform hemangioendothelioma skos:exactMatch NCIT:C27511 Retiform Hemangioendothelioma semapv:UnspecifiedMatching MONDO:0018713 retiform hemangioendothelioma skos:exactMatch Orphanet:458763 Retiform hemangioendothelioma semapv:UnspecifiedMatching MONDO:0018713 retiform hemangioendothelioma skos:exactMatch SCTID:403982005 semapv:UnspecifiedMatching MONDO:0018713 retiform hemangioendothelioma skos:exactMatch UMLS:C1304512 semapv:UnspecifiedMatching MONDO:0018714 primary intralymphatic angioendothelioma skos:exactMatch MEDGEN:138037 semapv:UnspecifiedMatching MONDO:0018714 primary intralymphatic angioendothelioma skos:exactMatch NCIT:C7526 Papillary Intralymphatic Angioendothelioma semapv:UnspecifiedMatching MONDO:0018714 primary intralymphatic angioendothelioma skos:exactMatch Orphanet:458768 Papillary intralymphatic angioendothelioma semapv:UnspecifiedMatching MONDO:0018714 primary intralymphatic angioendothelioma skos:exactMatch UMLS:C0346087 semapv:UnspecifiedMatching MONDO:0018714 primary intralymphatic angioendothelioma skos:exactMatch icd11.foundation:432094068 Dabska tumour semapv:UnspecifiedMatching MONDO:0018715 congenital hemangioma skos:exactMatch MEDGEN:65912 semapv:UnspecifiedMatching MONDO:0018715 congenital hemangioma skos:exactMatch NCIT:C3841 Congenital Hemangioma semapv:UnspecifiedMatching MONDO:0018715 congenital hemangioma skos:exactMatch Orphanet:458775 Congenital hemangioma semapv:UnspecifiedMatching MONDO:0018715 congenital hemangioma skos:exactMatch SCTID:32361000119104 semapv:UnspecifiedMatching MONDO:0018715 congenital hemangioma skos:exactMatch UMLS:C0235753 semapv:UnspecifiedMatching MONDO:0018716 partially involuting congenital hemangioma skos:exactMatch MEDGEN:1672492 semapv:UnspecifiedMatching MONDO:0018716 partially involuting congenital hemangioma skos:exactMatch NCIT:C172209 Partially Involuting Congenital Hemangioma semapv:UnspecifiedMatching MONDO:0018716 partially involuting congenital hemangioma skos:exactMatch Orphanet:458785 Partially involuting congenital hemangioma semapv:UnspecifiedMatching MONDO:0018716 partially involuting congenital hemangioma skos:exactMatch UMLS:C4733501 semapv:UnspecifiedMatching MONDO:0018717 mixed cystic lymphatic malformation skos:exactMatch MEDGEN:1805965 semapv:UnspecifiedMatching MONDO:0018717 mixed cystic lymphatic malformation skos:exactMatch Orphanet:458792 Mixed cystic lymphatic malformation semapv:UnspecifiedMatching MONDO:0018717 mixed cystic lymphatic malformation skos:exactMatch UMLS:C5680000 semapv:UnspecifiedMatching MONDO:0018718 obsolete vascular tumor with associated anomalies skos:exactMatch Orphanet:458827 OBSOLETE: Vascular tumor with associated anomalies semapv:UnspecifiedMatching MONDO:0018719 obsolete obsolete rare capillary malformation with associated anomalies skos:exactMatch Orphanet:458830 Rare capillary malformation with associated anomalies semapv:UnspecifiedMatching MONDO:0018720 obsolete common cystic lymphatic malformation skos:exactMatch Orphanet:458833 Common cystic lymphatic malformation semapv:UnspecifiedMatching MONDO:0018721 obsolete rare combined vascular malformation skos:exactMatch Orphanet:458837 Rare combined vascular malformation semapv:UnspecifiedMatching MONDO:0018722 obsolete primary lymphedema with associated anomalies skos:exactMatch Orphanet:458841 OBSOLETE: Primary lymphedema with associated anomalies semapv:UnspecifiedMatching MONDO:0018723 obsolete rare vascular malformation of major vessels skos:exactMatch Orphanet:458844 Rare vascular malformation of major vessels semapv:UnspecifiedMatching MONDO:0018724 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome skos:exactMatch MEDGEN:1811349 semapv:UnspecifiedMatching MONDO:0018724 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome skos:exactMatch Orphanet:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome semapv:UnspecifiedMatching MONDO:0018724 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome skos:exactMatch UMLS:C5687848 semapv:UnspecifiedMatching MONDO:0018725 corpus callosum agenesis-macrocephaly-hypertelorism syndrome skos:exactMatch MEDGEN:1801729 semapv:UnspecifiedMatching MONDO:0018725 corpus callosum agenesis-macrocephaly-hypertelorism syndrome skos:exactMatch Orphanet:459074 Corpus callosum agenesis-macrocephaly-hypertelorism syndrome semapv:UnspecifiedMatching MONDO:0018725 corpus callosum agenesis-macrocephaly-hypertelorism syndrome skos:exactMatch UMLS:C5679998 semapv:UnspecifiedMatching MONDO:0018727 obsolete immunodeficiency due to a complement regulatory deficiency skos:exactMatch Orphanet:459348 Immunodeficiency due to a complement regulatory deficiency semapv:UnspecifiedMatching MONDO:0018728 obsolete rare genetic capillary malformation skos:exactMatch Orphanet:459526 Rare genetic capillary malformation semapv:UnspecifiedMatching MONDO:0018729 obsolete genetic vascular tumor skos:exactMatch Orphanet:459543 Rare genetic vascular tumor semapv:UnspecifiedMatching MONDO:0018730 obsolete rare genetic venous malformation skos:exactMatch Orphanet:459548 Rare genetic venous malformation semapv:UnspecifiedMatching MONDO:0018731 obsolete lethal multiple congenital anomalies/dysmorphic syndrome skos:exactMatch Orphanet:459787 Lethal multiple congenital anomalies/dysmorphic syndrome semapv:UnspecifiedMatching MONDO:0018733 intellectual disability syndrome due to a DYRK1A point mutation skos:exactMatch MEDGEN:1826160 semapv:UnspecifiedMatching MONDO:0018733 intellectual disability syndrome due to a DYRK1A point mutation skos:exactMatch Orphanet:464311 Intellectual disability syndrome due to a DYRK1A point mutation semapv:UnspecifiedMatching MONDO:0018733 intellectual disability syndrome due to a DYRK1A point mutation skos:exactMatch UMLS:C5679991 semapv:UnspecifiedMatching MONDO:0018734 verrucous hemangioma skos:exactMatch DOID:470 verrucous keratotic hemangioma semapv:UnspecifiedMatching MONDO:0018734 verrucous hemangioma skos:exactMatch MEDGEN:90802 semapv:UnspecifiedMatching MONDO:0018734 verrucous hemangioma skos:exactMatch NCIT:C4299 Verrucous Venous Malformation semapv:UnspecifiedMatching MONDO:0018734 verrucous hemangioma skos:exactMatch Orphanet:464318 Verrucous hemangioma semapv:UnspecifiedMatching MONDO:0018734 verrucous hemangioma skos:exactMatch UMLS:C0334540 semapv:UnspecifiedMatching MONDO:0018735 multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome skos:exactMatch MEDGEN:1804470 semapv:UnspecifiedMatching MONDO:0018735 multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome skos:exactMatch NCIT:C60672 MALT1 wt Allele semapv:UnspecifiedMatching MONDO:0018735 multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome skos:exactMatch Orphanet:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome semapv:UnspecifiedMatching MONDO:0018735 multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome skos:exactMatch UMLS:C5575322 semapv:UnspecifiedMatching MONDO:0018736 kaposiform lymphangiomatosis skos:exactMatch MEDGEN:1807991 semapv:UnspecifiedMatching MONDO:0018736 kaposiform lymphangiomatosis skos:exactMatch Orphanet:464329 Kaposiform lymphangiomatosis semapv:UnspecifiedMatching MONDO:0018736 kaposiform lymphangiomatosis skos:exactMatch UMLS:C5681097 semapv:UnspecifiedMatching MONDO:0018736 kaposiform lymphangiomatosis skos:exactMatch icd11.foundation:1139222402 Kaposiform lymphangiomatosis semapv:UnspecifiedMatching MONDO:0018737 catastrophic antiphospholipid syndrome skos:exactMatch MEDGEN:783641 semapv:UnspecifiedMatching MONDO:0018737 catastrophic antiphospholipid syndrome skos:exactMatch Orphanet:464343 Catastrophic antiphospholipid syndrome semapv:UnspecifiedMatching MONDO:0018737 catastrophic antiphospholipid syndrome skos:exactMatch SCTID:609329007 semapv:UnspecifiedMatching MONDO:0018737 catastrophic antiphospholipid syndrome skos:exactMatch UMLS:C3662487 semapv:UnspecifiedMatching MONDO:0018738 benign metanephric tumor skos:exactMatch MEDGEN:1830110 semapv:UnspecifiedMatching MONDO:0018738 benign metanephric tumor skos:exactMatch NCIT:C157748 Metanephric Tumor semapv:UnspecifiedMatching MONDO:0018738 benign metanephric tumor skos:exactMatch Orphanet:464359 Benign metanephric tumor semapv:UnspecifiedMatching MONDO:0018738 benign metanephric tumor skos:exactMatch UMLS:C5681098 semapv:UnspecifiedMatching MONDO:0018739 neonatal alloimmune neutropenia skos:exactMatch MEDGEN:543869 semapv:UnspecifiedMatching MONDO:0018739 neonatal alloimmune neutropenia skos:exactMatch Orphanet:464370 Neonatal alloimmune neutropenia semapv:UnspecifiedMatching MONDO:0018739 neonatal alloimmune neutropenia skos:exactMatch SCTID:14333004 semapv:UnspecifiedMatching MONDO:0018739 neonatal alloimmune neutropenia skos:exactMatch UMLS:C0272176 semapv:UnspecifiedMatching MONDO:0018740 drug-induced methemoglobinemia skos:exactMatch MEDGEN:632786 semapv:UnspecifiedMatching MONDO:0018740 drug-induced methemoglobinemia skos:exactMatch NCIT:C101045 Drug Induced Methemoglobinemia semapv:UnspecifiedMatching MONDO:0018740 drug-induced methemoglobinemia skos:exactMatch Orphanet:464453 Acquired methemoglobinemia semapv:UnspecifiedMatching MONDO:0018740 drug-induced methemoglobinemia skos:exactMatch SCTID:191390009 semapv:UnspecifiedMatching MONDO:0018740 drug-induced methemoglobinemia skos:exactMatch UMLS:C0472781 semapv:UnspecifiedMatching MONDO:0018740 drug-induced methemoglobinemia skos:exactMatch icd11.foundation:746336827 Acquired methaemoglobinaemia semapv:UnspecifiedMatching MONDO:0018741 paracetamol poisoning skos:exactMatch Orphanet:464458 Paracetamol poisoning semapv:UnspecifiedMatching MONDO:0018741 paracetamol poisoning skos:exactMatch SCTID:70273001 semapv:UnspecifiedMatching MONDO:0018742 familial gastric type 1 neuroendocrine tumor skos:exactMatch MEDGEN:1826112 semapv:UnspecifiedMatching MONDO:0018742 familial gastric type 1 neuroendocrine tumor skos:exactMatch Orphanet:464756 Familial gastric type 1 neuroendocrine tumor semapv:UnspecifiedMatching MONDO:0018742 familial gastric type 1 neuroendocrine tumor skos:exactMatch UMLS:C5681095 semapv:UnspecifiedMatching MONDO:0018743 obsolete immune-mediated acquired neuromuscular junction disease skos:exactMatch Orphanet:464764 Immune-mediated acquired neuromuscular junction disease semapv:UnspecifiedMatching MONDO:0018744 oligodendroglial tumor skos:exactMatch MEDGEN:233266 semapv:UnspecifiedMatching MONDO:0018744 oligodendroglial tumor skos:exactMatch NCIT:C6960 Oligodendroglial Tumor semapv:UnspecifiedMatching MONDO:0018744 oligodendroglial tumor skos:exactMatch Orphanet:46484 Oligodendroglial tumor semapv:UnspecifiedMatching MONDO:0018744 oligodendroglial tumor skos:exactMatch UMLS:C1335110 semapv:UnspecifiedMatching MONDO:0018745 obsolete superficial pemphigus skos:exactMatch Orphanet:46485 Superficial pemphigus semapv:UnspecifiedMatching MONDO:0018746 mucous membrane pemphigoid skos:exactMatch DOID:11656 cicatricial pemphigoid semapv:UnspecifiedMatching MONDO:0018746 mucous membrane pemphigoid skos:exactMatch EFO:1000680 semapv:UnspecifiedMatching MONDO:0018746 mucous membrane pemphigoid skos:exactMatch ICD10CM:L12.1 Cicatricial pemphigoid semapv:UnspecifiedMatching MONDO:0018746 mucous membrane pemphigoid skos:exactMatch MEDGEN:10619 semapv:UnspecifiedMatching MONDO:0018746 mucous membrane pemphigoid skos:exactMatch NCIT:C34907 Benign Mucous Membrane Pemphigoid semapv:UnspecifiedMatching MONDO:0018746 mucous membrane pemphigoid skos:exactMatch Orphanet:46486 Mucous membrane pemphigoid semapv:UnspecifiedMatching MONDO:0018746 mucous membrane pemphigoid skos:exactMatch SCTID:76092003 semapv:UnspecifiedMatching MONDO:0018746 mucous membrane pemphigoid skos:exactMatch UMLS:C0030804 semapv:UnspecifiedMatching MONDO:0018746 mucous membrane pemphigoid skos:exactMatch icd11.foundation:1456138933 Mucous membrane pemphigoid semapv:UnspecifiedMatching MONDO:0018747 acquired epidermolysis bullosa skos:exactMatch DOID:4313 epidermolysis bullosa acquisita semapv:UnspecifiedMatching MONDO:0018747 acquired epidermolysis bullosa skos:exactMatch EFO:1000691 semapv:UnspecifiedMatching MONDO:0018747 acquired epidermolysis bullosa skos:exactMatch ICD10CM:L12.3 Acquired epidermolysis bullosa semapv:UnspecifiedMatching MONDO:0018747 acquired epidermolysis bullosa skos:exactMatch MEDGEN:37178 semapv:UnspecifiedMatching MONDO:0018747 acquired epidermolysis bullosa skos:exactMatch NCIT:C84690 Epidermolysis Bullosa Acquisita semapv:UnspecifiedMatching MONDO:0018747 acquired epidermolysis bullosa skos:exactMatch Orphanet:46487 Epidermolysis bullosa acquisita semapv:UnspecifiedMatching MONDO:0018747 acquired epidermolysis bullosa skos:exactMatch SCTID:2772003 semapv:UnspecifiedMatching MONDO:0018747 acquired epidermolysis bullosa skos:exactMatch UMLS:C0079293 semapv:UnspecifiedMatching MONDO:0018747 acquired epidermolysis bullosa skos:exactMatch icd11.foundation:2034586329 Epidermolysis bullosa acquisita semapv:UnspecifiedMatching MONDO:0018747 acquired epidermolysis bullosa skos:exactMatch mesh:D016107 semapv:UnspecifiedMatching MONDO:0018748 linear IgA Dermatosis skos:exactMatch EFO:0009313 semapv:UnspecifiedMatching MONDO:0018748 linear IgA Dermatosis skos:exactMatch MEDGEN:473106 semapv:UnspecifiedMatching MONDO:0018748 linear IgA Dermatosis skos:exactMatch Orphanet:46488 Linear IgA dermatosis semapv:UnspecifiedMatching MONDO:0018748 linear IgA Dermatosis skos:exactMatch SCTID:95330001 semapv:UnspecifiedMatching MONDO:0018748 linear IgA Dermatosis skos:exactMatch UMLS:C0406650 semapv:UnspecifiedMatching MONDO:0018748 linear IgA Dermatosis skos:exactMatch icd11.foundation:1802341051 Linear IgA bullous dermatosis semapv:UnspecifiedMatching MONDO:0018748 linear IgA Dermatosis skos:exactMatch mesh:D062027 semapv:UnspecifiedMatching MONDO:0018749 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome skos:exactMatch MEDGEN:543715 semapv:UnspecifiedMatching MONDO:0018749 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome skos:exactMatch Orphanet:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome semapv:UnspecifiedMatching MONDO:0018749 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome skos:exactMatch UMLS:C0271994 semapv:UnspecifiedMatching MONDO:0018749 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome skos:exactMatch icd11.foundation:418601307 Hereditary persistence of fetal haemoglobin semapv:UnspecifiedMatching MONDO:0018751 hereditary otorhinolaryngologic disease skos:exactMatch MEDGEN:1842579 semapv:UnspecifiedMatching MONDO:0018751 hereditary otorhinolaryngologic disease skos:exactMatch Orphanet:466084 Genetic otorhinolaryngologic disease semapv:UnspecifiedMatching MONDO:0018751 hereditary otorhinolaryngologic disease skos:exactMatch UMLS:C5681130 semapv:UnspecifiedMatching MONDO:0018752 exercise-induced malignant hyperthermia skos:exactMatch MEDGEN:1814609 semapv:UnspecifiedMatching MONDO:0018752 exercise-induced malignant hyperthermia skos:exactMatch Orphanet:466650 Exercise-induced malignant hyperthermia semapv:UnspecifiedMatching MONDO:0018752 exercise-induced malignant hyperthermia skos:exactMatch SCTID:735907005 semapv:UnspecifiedMatching MONDO:0018752 exercise-induced malignant hyperthermia skos:exactMatch UMLS:C5700399 semapv:UnspecifiedMatching MONDO:0018753 obsolete rare disease with malignant hyperthermia skos:exactMatch Orphanet:466658 Rare disease with malignant hyperthermia semapv:UnspecifiedMatching MONDO:0018754 cyanide poisoning skos:exactMatch Orphanet:466670 Cyanide poisoning semapv:UnspecifiedMatching MONDO:0018754 cyanide poisoning skos:exactMatch SCTID:66207005 semapv:UnspecifiedMatching MONDO:0018755 scorpion envenomation skos:exactMatch ICD10CM:T63.2 Toxic effect of venom of scorpion semapv:UnspecifiedMatching MONDO:0018755 scorpion envenomation skos:exactMatch Orphanet:466677 Scorpion envenomation semapv:UnspecifiedMatching MONDO:0018755 scorpion envenomation skos:exactMatch SCTID:217670007 semapv:UnspecifiedMatching MONDO:0018756 euthyroid Graves orbitopathy skos:exactMatch DOID:0081120 Graves ophthalmopathy semapv:UnspecifiedMatching MONDO:0018756 euthyroid Graves orbitopathy skos:exactMatch MEDGEN:1803712 semapv:UnspecifiedMatching MONDO:0018756 euthyroid Graves orbitopathy skos:exactMatch Orphanet:466682 Euthyroid Graves orbitopathy semapv:UnspecifiedMatching MONDO:0018756 euthyroid Graves orbitopathy skos:exactMatch UMLS:C5680004 semapv:UnspecifiedMatching MONDO:0018757 supratip dysplasia skos:exactMatch MEDGEN:1807664 semapv:UnspecifiedMatching MONDO:0018757 supratip dysplasia skos:exactMatch Orphanet:466695 Supratip dysplasia semapv:UnspecifiedMatching MONDO:0018757 supratip dysplasia skos:exactMatch UMLS:C5681127 semapv:UnspecifiedMatching MONDO:0018759 childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome skos:exactMatch MEDGEN:1800286 semapv:UnspecifiedMatching MONDO:0018759 childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome skos:exactMatch Orphanet:466921 Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome semapv:UnspecifiedMatching MONDO:0018759 childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome skos:exactMatch UMLS:C5568863 semapv:UnspecifiedMatching MONDO:0018760 DeSanto-Shinawi syndrome skos:exactMatch DOID:0081126 DeSanto-Shinawi syndrome semapv:UnspecifiedMatching MONDO:0018760 DeSanto-Shinawi syndrome skos:exactMatch MEDGEN:908218 semapv:UnspecifiedMatching MONDO:0018760 DeSanto-Shinawi syndrome skos:exactMatch Orphanet:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome semapv:UnspecifiedMatching MONDO:0018760 DeSanto-Shinawi syndrome skos:exactMatch UMLS:C4225239 semapv:UnspecifiedMatching MONDO:0018761 SMARCA4-deficient sarcoma of thorax skos:exactMatch DOID:0080532 Smarca4-deficient sarcoma of thorax semapv:UnspecifiedMatching MONDO:0018761 SMARCA4-deficient sarcoma of thorax skos:exactMatch MEDGEN:1806595 semapv:UnspecifiedMatching MONDO:0018761 SMARCA4-deficient sarcoma of thorax skos:exactMatch NCIT:C183115 Thoracic SMARCA4-Deficient Undifferentiated Tumor semapv:UnspecifiedMatching MONDO:0018761 SMARCA4-deficient sarcoma of thorax skos:exactMatch Orphanet:466962 SMARCA4-deficient sarcoma of thorax semapv:UnspecifiedMatching MONDO:0018761 SMARCA4-deficient sarcoma of thorax skos:exactMatch UMLS:C5554190 semapv:UnspecifiedMatching MONDO:0018762 non-acquired combined pituitary hormone deficiency skos:exactMatch MEDGEN:1842250 semapv:UnspecifiedMatching MONDO:0018762 non-acquired combined pituitary hormone deficiency skos:exactMatch Orphanet:467 Non-acquired combined pituitary hormone deficiency semapv:UnspecifiedMatching MONDO:0018762 non-acquired combined pituitary hormone deficiency skos:exactMatch UMLS:C5680091 semapv:UnspecifiedMatching MONDO:0018763 tubulinopathy-associated dysgyria skos:exactMatch MEDGEN:1800273 semapv:UnspecifiedMatching MONDO:0018763 tubulinopathy-associated dysgyria skos:exactMatch Orphanet:467166 Tubulinopathy-associated dysgyria semapv:UnspecifiedMatching MONDO:0018763 tubulinopathy-associated dysgyria skos:exactMatch UMLS:C5568850 semapv:UnspecifiedMatching MONDO:0018764 microcephalic primordial dwarfism due to RTTN deficiency skos:exactMatch MEDGEN:766745 semapv:UnspecifiedMatching MONDO:0018764 microcephalic primordial dwarfism due to RTTN deficiency skos:exactMatch OMIM:614833 microcephaly, short stature, and polymicrogyria with or without seizures semapv:UnspecifiedMatching MONDO:0018764 microcephalic primordial dwarfism due to RTTN deficiency skos:exactMatch Orphanet:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency semapv:UnspecifiedMatching MONDO:0018764 microcephalic primordial dwarfism due to RTTN deficiency skos:exactMatch UMLS:C3553831 semapv:UnspecifiedMatching MONDO:0018765 cryptogenic multifocal ulcerous stenosing enteritis skos:exactMatch MEDGEN:927932 semapv:UnspecifiedMatching MONDO:0018765 cryptogenic multifocal ulcerous stenosing enteritis skos:exactMatch Orphanet:468635 Cryptogenic multifocal ulcerous stenosing enteritis semapv:UnspecifiedMatching MONDO:0018765 cryptogenic multifocal ulcerous stenosing enteritis skos:exactMatch SCTID:722849002 semapv:UnspecifiedMatching MONDO:0018765 cryptogenic multifocal ulcerous stenosing enteritis skos:exactMatch UMLS:C4302263 semapv:UnspecifiedMatching MONDO:0018765 cryptogenic multifocal ulcerous stenosing enteritis skos:exactMatch icd11.foundation:1401898155 Cryptogenic multifocal ulcerous stenosing enteritis semapv:UnspecifiedMatching MONDO:0018766 chronic enteropathy associated with SLCO2A1 gene skos:exactMatch MEDGEN:1800261 semapv:UnspecifiedMatching MONDO:0018766 chronic enteropathy associated with SLCO2A1 gene skos:exactMatch Orphanet:468641 Chronic enteropathy associated with SLCO2A1 gene semapv:UnspecifiedMatching MONDO:0018766 chronic enteropathy associated with SLCO2A1 gene skos:exactMatch UMLS:C5568838 semapv:UnspecifiedMatching MONDO:0018767 severe primary trimethylaminuria skos:exactMatch DOID:0080361 trimethylaminuria semapv:UnspecifiedMatching MONDO:0018767 severe primary trimethylaminuria skos:exactMatch MEDGEN:1814174 semapv:UnspecifiedMatching MONDO:0018767 severe primary trimethylaminuria skos:exactMatch OMIM:602079 trimethylaminuria semapv:UnspecifiedMatching MONDO:0018767 severe primary trimethylaminuria skos:exactMatch Orphanet:468726 Severe primary trimethylaminuria semapv:UnspecifiedMatching MONDO:0018767 severe primary trimethylaminuria skos:exactMatch UMLS:C5575503 semapv:UnspecifiedMatching MONDO:0018767 severe primary trimethylaminuria skos:exactMatch mesh:C536561 semapv:UnspecifiedMatching MONDO:0018768 familial cold autoinflammatory syndrome skos:exactMatch DOID:0090061 familial cold autoinflammatory syndrome semapv:UnspecifiedMatching MONDO:0018768 familial cold autoinflammatory syndrome skos:exactMatch MEDGEN:137986 semapv:UnspecifiedMatching MONDO:0018768 familial cold autoinflammatory syndrome skos:exactMatch NCIT:C119053 Familial Cold Autoinflammatory Syndrome semapv:UnspecifiedMatching MONDO:0018768 familial cold autoinflammatory syndrome skos:exactMatch OMIMPS:120100 Familial cold autoinflammatory syndrome semapv:UnspecifiedMatching MONDO:0018768 familial cold autoinflammatory syndrome skos:exactMatch Orphanet:47045 Familial cold urticaria semapv:UnspecifiedMatching MONDO:0018768 familial cold autoinflammatory syndrome skos:exactMatch UMLS:C0343068 semapv:UnspecifiedMatching MONDO:0018768 familial cold autoinflammatory syndrome skos:exactMatch icd11.foundation:1932140025 Familial cold autoinflammatory syndrome semapv:UnspecifiedMatching MONDO:0018769 isosporiasis skos:exactMatch DOID:2112 cystoisosporiasis semapv:UnspecifiedMatching MONDO:0018769 isosporiasis skos:exactMatch EFO:0007232 semapv:UnspecifiedMatching MONDO:0018769 isosporiasis skos:exactMatch ICD10CM:A07.3 Isosporiasis semapv:UnspecifiedMatching MONDO:0018769 isosporiasis skos:exactMatch MEDGEN:90233 semapv:UnspecifiedMatching MONDO:0018769 isosporiasis skos:exactMatch NCIT:C4076 Isosporiasis semapv:UnspecifiedMatching MONDO:0018769 isosporiasis skos:exactMatch Orphanet:472 Isosporiasis semapv:UnspecifiedMatching MONDO:0018769 isosporiasis skos:exactMatch SCTID:371423007 semapv:UnspecifiedMatching MONDO:0018769 isosporiasis skos:exactMatch UMLS:C0311386 semapv:UnspecifiedMatching MONDO:0018769 isosporiasis skos:exactMatch icd11.foundation:137713224 Cystoisosporiasis semapv:UnspecifiedMatching MONDO:0018769 isosporiasis skos:exactMatch mesh:D021865 semapv:UnspecifiedMatching MONDO:0018770 Jeune syndrome skos:exactMatch DOID:0050592 asphyxiating thoracic dystrophy semapv:UnspecifiedMatching MONDO:0018770 Jeune syndrome skos:exactMatch MEDGEN:78548 semapv:UnspecifiedMatching MONDO:0018770 Jeune syndrome skos:exactMatch NCIT:C84794 Jeune Syndrome semapv:UnspecifiedMatching MONDO:0018770 Jeune syndrome skos:exactMatch OMIMPS:208500 Short-rib thoracic dysplasia semapv:UnspecifiedMatching MONDO:0018770 Jeune syndrome skos:exactMatch Orphanet:474 Jeune syndrome semapv:UnspecifiedMatching MONDO:0018770 Jeune syndrome skos:exactMatch SCTID:75049004 semapv:UnspecifiedMatching MONDO:0018770 Jeune syndrome skos:exactMatch UMLS:C0265275 semapv:UnspecifiedMatching MONDO:0018770 Jeune syndrome skos:exactMatch icd11.foundation:554018956 Asphyxiating thoracic dystrophy semapv:UnspecifiedMatching MONDO:0018770 Jeune syndrome skos:exactMatch mesh:C537571 semapv:UnspecifiedMatching MONDO:0018771 obsolete congenital anomaly of ventricular septum skos:exactMatch Orphanet:474347 Rare congenital anomaly of ventricular septum semapv:UnspecifiedMatching MONDO:0018772 Joubert syndrome skos:exactMatch DOID:0050777 Joubert syndrome semapv:UnspecifiedMatching MONDO:0018772 Joubert syndrome skos:exactMatch MEDGEN:1876534 semapv:UnspecifiedMatching MONDO:0018772 Joubert syndrome skos:exactMatch NCIT:C74996 Joubert Syndrome semapv:UnspecifiedMatching MONDO:0018772 Joubert syndrome skos:exactMatch OMIMPS:213300 Joubert syndrome semapv:UnspecifiedMatching MONDO:0018772 Joubert syndrome skos:exactMatch Orphanet:475 Isolated Joubert syndrome semapv:UnspecifiedMatching MONDO:0018772 Joubert syndrome skos:exactMatch SCTID:716997004 semapv:UnspecifiedMatching MONDO:0018772 Joubert syndrome skos:exactMatch UMLS:C5979921 semapv:UnspecifiedMatching MONDO:0018772 Joubert syndrome skos:exactMatch icd11.foundation:1414756318 Joubert syndrome semapv:UnspecifiedMatching MONDO:0018775 obsolete axonal hereditary motor and sensory neuropathy skos:exactMatch Orphanet:476109 Axonal hereditary motor and sensory neuropathy semapv:UnspecifiedMatching MONDO:0018776 demyelinating hereditary motor and sensory neuropathy skos:exactMatch MEDGEN:1843348 semapv:UnspecifiedMatching MONDO:0018776 demyelinating hereditary motor and sensory neuropathy skos:exactMatch Orphanet:476116 Demyelinating hereditary motor and sensory neuropathy semapv:UnspecifiedMatching MONDO:0018776 demyelinating hereditary motor and sensory neuropathy skos:exactMatch UMLS:C5680106 semapv:UnspecifiedMatching MONDO:0018777 autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome skos:exactMatch MEDGEN:1800225 semapv:UnspecifiedMatching MONDO:0018777 autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome skos:exactMatch Orphanet:476119 Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome semapv:UnspecifiedMatching MONDO:0018777 autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome skos:exactMatch UMLS:C5568802 semapv:UnspecifiedMatching MONDO:0018778 intermediate Charcot-Marie-Tooth disease skos:exactMatch DOID:0050543 Charcot-Marie-Tooth disease intermediate type semapv:UnspecifiedMatching MONDO:0018778 intermediate Charcot-Marie-Tooth disease skos:exactMatch MEDGEN:1826149 semapv:UnspecifiedMatching MONDO:0018778 intermediate Charcot-Marie-Tooth disease skos:exactMatch Orphanet:476123 Intermediate Charcot-Marie-Tooth disease semapv:UnspecifiedMatching MONDO:0018778 intermediate Charcot-Marie-Tooth disease skos:exactMatch UMLS:C5680108 semapv:UnspecifiedMatching MONDO:0018778 intermediate Charcot-Marie-Tooth disease skos:exactMatch icd11.foundation:1389094589 Intermediate Charcot-Marie-Tooth disease semapv:UnspecifiedMatching MONDO:0018779 obsolete hypercontractile muscle stiffness syndrome skos:exactMatch Orphanet:476403 Hypercontractile muscle stiffness syndrome semapv:UnspecifiedMatching MONDO:0018780 congenital generalized hypercontractile muscle stiffness syndrome skos:exactMatch MEDGEN:1799212 semapv:UnspecifiedMatching MONDO:0018780 congenital generalized hypercontractile muscle stiffness syndrome skos:exactMatch Orphanet:476406 Congenital generalized hypercontractile muscle stiffness syndrome semapv:UnspecifiedMatching MONDO:0018780 congenital generalized hypercontractile muscle stiffness syndrome skos:exactMatch UMLS:C5567789 semapv:UnspecifiedMatching MONDO:0018781 KID syndrome skos:exactMatch MEDGEN:777082 semapv:UnspecifiedMatching MONDO:0018781 KID syndrome skos:exactMatch OMIMPS:148210 Keratitis-ichthyosis-deafness syndrome semapv:UnspecifiedMatching MONDO:0018781 KID syndrome skos:exactMatch Orphanet:477 KID syndrome semapv:UnspecifiedMatching MONDO:0018781 KID syndrome skos:exactMatch SCTID:2625009 semapv:UnspecifiedMatching MONDO:0018781 KID syndrome skos:exactMatch UMLS:C3665333 semapv:UnspecifiedMatching MONDO:0018781 KID syndrome skos:exactMatch mesh:C536168 semapv:UnspecifiedMatching MONDO:0018783 fibroblastic rheumatism skos:exactMatch MEDGEN:724307 semapv:UnspecifiedMatching MONDO:0018783 fibroblastic rheumatism skos:exactMatch Orphanet:477650 Fibroblastic rheumatism semapv:UnspecifiedMatching MONDO:0018783 fibroblastic rheumatism skos:exactMatch SCTID:399964004 semapv:UnspecifiedMatching MONDO:0018783 fibroblastic rheumatism skos:exactMatch UMLS:C1302753 semapv:UnspecifiedMatching MONDO:0018783 fibroblastic rheumatism skos:exactMatch icd11.foundation:112300601 Fibroblastic rheumatism semapv:UnspecifiedMatching MONDO:0018784 pediatric multiple sclerosis skos:exactMatch MEDGEN:1799994 semapv:UnspecifiedMatching MONDO:0018784 pediatric multiple sclerosis skos:exactMatch Orphanet:477738 Pediatric multiple sclerosis semapv:UnspecifiedMatching MONDO:0018784 pediatric multiple sclerosis skos:exactMatch UMLS:C5568571 semapv:UnspecifiedMatching MONDO:0018787 obsolete genetic cerebral small vessel disease skos:exactMatch Orphanet:477754 Genetic cerebral small vessel disease semapv:UnspecifiedMatching MONDO:0018788 obsolete COL4A1 or COL4A2-related cerebral small vessel disease skos:exactMatch Orphanet:477759 COL4A1 or COL4A2-related cerebral small vessel disease semapv:UnspecifiedMatching MONDO:0018789 obsolete COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendency skos:exactMatch Orphanet:477762 COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendency semapv:UnspecifiedMatching MONDO:0018790 obsolete COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendency skos:exactMatch Orphanet:477765 COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendency semapv:UnspecifiedMatching MONDO:0018791 obsolete Moyomoya angiopathy skos:exactMatch Orphanet:477768 Moyamoya angiopathy semapv:UnspecifiedMatching MONDO:0018792 obsolete Moyamoya syndrome skos:exactMatch Orphanet:477771 Rare disorder with a moyamoya angiopathy semapv:UnspecifiedMatching MONDO:0018793 primary condylar hyperplasia skos:exactMatch MEDGEN:1799993 semapv:UnspecifiedMatching MONDO:0018793 primary condylar hyperplasia skos:exactMatch Orphanet:477781 Primary condylar hyperplasia semapv:UnspecifiedMatching MONDO:0018793 primary condylar hyperplasia skos:exactMatch UMLS:C5568570 semapv:UnspecifiedMatching MONDO:0018794 cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder skos:exactMatch MEDGEN:1799074 semapv:UnspecifiedMatching MONDO:0018794 cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder skos:exactMatch OMIM:618372 gastrointestinal ulceration, recurrent, with dysfunctional platelets semapv:UnspecifiedMatching MONDO:0018794 cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder skos:exactMatch Orphanet:477787 Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder semapv:UnspecifiedMatching MONDO:0018794 cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder skos:exactMatch UMLS:C5567651 semapv:UnspecifiedMatching MONDO:0018795 syndromic constitutional thrombocytopenia skos:exactMatch MEDGEN:1843101 semapv:UnspecifiedMatching MONDO:0018795 syndromic constitutional thrombocytopenia skos:exactMatch Orphanet:477794 Syndromic constitutional thrombocytopenia semapv:UnspecifiedMatching MONDO:0018795 syndromic constitutional thrombocytopenia skos:exactMatch UMLS:C5681257 semapv:UnspecifiedMatching MONDO:0018796 obsolete isolated constitutional thrombocytopenia skos:exactMatch Orphanet:477797 Isolated constitutional thrombocytopenia semapv:UnspecifiedMatching MONDO:0018797 obsolete genetic cardiac malformation skos:exactMatch Orphanet:477805 Genetic cardiac malformation semapv:UnspecifiedMatching MONDO:0018798 obsolete other genetic dermis disorder skos:exactMatch Orphanet:477808 Other genetic dermis disorder semapv:UnspecifiedMatching MONDO:0018799 obsolete rare hypercholesterolemia skos:exactMatch Orphanet:477811 Rare hypercholesterolemia semapv:UnspecifiedMatching MONDO:0018800 Kallmann syndrome skos:exactMatch DOID:3614 Kallmann syndrome semapv:UnspecifiedMatching MONDO:0018800 Kallmann syndrome skos:exactMatch MEDGEN:102469 semapv:UnspecifiedMatching MONDO:0018800 Kallmann syndrome skos:exactMatch NCIT:C75479 Hypogonadotropic Hypogonadism with Anosmia semapv:UnspecifiedMatching MONDO:0018800 Kallmann syndrome skos:exactMatch Orphanet:478 Kallmann syndrome semapv:UnspecifiedMatching MONDO:0018800 Kallmann syndrome skos:exactMatch SCTID:93559003 semapv:UnspecifiedMatching MONDO:0018800 Kallmann syndrome skos:exactMatch UMLS:C0162809 semapv:UnspecifiedMatching MONDO:0018800 Kallmann syndrome skos:exactMatch mesh:D017436 semapv:UnspecifiedMatching MONDO:0018801 congenital bilateral absence of vas deferens skos:exactMatch DOID:0111862 congenital bilateral absence of vas deferens semapv:UnspecifiedMatching MONDO:0018801 congenital bilateral absence of vas deferens skos:exactMatch MEDGEN:400764 semapv:UnspecifiedMatching MONDO:0018801 congenital bilateral absence of vas deferens skos:exactMatch OMIMPS:277180 Vas deferens, congenital bilateral aplasia of semapv:UnspecifiedMatching MONDO:0018801 congenital bilateral absence of vas deferens skos:exactMatch Orphanet:48 Congenital bilateral absence of vas deferens semapv:UnspecifiedMatching MONDO:0018801 congenital bilateral absence of vas deferens skos:exactMatch SCTID:275416002 semapv:UnspecifiedMatching MONDO:0018801 congenital bilateral absence of vas deferens skos:exactMatch UMLS:C1865433 semapv:UnspecifiedMatching MONDO:0018804 MYO5B-related progressive familial intrahepatic cholestasis skos:exactMatch MEDGEN:1826070 semapv:UnspecifiedMatching MONDO:0018804 MYO5B-related progressive familial intrahepatic cholestasis skos:exactMatch Orphanet:480491 MYO5B-related progressive familial intrahepatic cholestasis semapv:UnspecifiedMatching MONDO:0018804 MYO5B-related progressive familial intrahepatic cholestasis skos:exactMatch UMLS:C5680100 semapv:UnspecifiedMatching MONDO:0018805 bile duct cyst skos:exactMatch DOID:899 choledochal cyst semapv:UnspecifiedMatching MONDO:0018805 bile duct cyst skos:exactMatch ICD10CM:Q44.4 Choledochal cyst semapv:UnspecifiedMatching MONDO:0018805 bile duct cyst skos:exactMatch MEDGEN:3037 semapv:UnspecifiedMatching MONDO:0018805 bile duct cyst skos:exactMatch OMIM:603003 bile duct cysts semapv:UnspecifiedMatching MONDO:0018805 bile duct cyst skos:exactMatch Orphanet:480501 Choledochal cyst semapv:UnspecifiedMatching MONDO:0018805 bile duct cyst skos:exactMatch SCTID:397868007 semapv:UnspecifiedMatching MONDO:0018805 bile duct cyst skos:exactMatch UMLS:C0008340 semapv:UnspecifiedMatching MONDO:0018805 bile duct cyst skos:exactMatch icd11.foundation:819487805 Choledochal cyst semapv:UnspecifiedMatching MONDO:0018805 bile duct cyst skos:exactMatch mesh:D015529 semapv:UnspecifiedMatching MONDO:0018806 primary intrahepatic lithiasis skos:exactMatch MEDGEN:1814175 semapv:UnspecifiedMatching MONDO:0018806 primary intrahepatic lithiasis skos:exactMatch Orphanet:480506 Primary intrahepatic lithiasis semapv:UnspecifiedMatching MONDO:0018806 primary intrahepatic lithiasis skos:exactMatch UMLS:C5576557 semapv:UnspecifiedMatching MONDO:0018807 idiopathic ductopenia skos:exactMatch MEDGEN:1814697 semapv:UnspecifiedMatching MONDO:0018807 idiopathic ductopenia skos:exactMatch Orphanet:480512 Idiopathic ductopenia semapv:UnspecifiedMatching MONDO:0018807 idiopathic ductopenia skos:exactMatch UMLS:C5702661 semapv:UnspecifiedMatching MONDO:0018808 Caroli syndrome skos:exactMatch DOID:0081394 Caroli syndrome semapv:UnspecifiedMatching MONDO:0018808 Caroli syndrome skos:exactMatch MEDGEN:1814547 semapv:UnspecifiedMatching MONDO:0018808 Caroli syndrome skos:exactMatch Orphanet:480520 Caroli syndrome semapv:UnspecifiedMatching MONDO:0018808 Caroli syndrome skos:exactMatch UMLS:C5700203 semapv:UnspecifiedMatching MONDO:0018809 idiopathic peliosis hepatis skos:exactMatch MEDGEN:1814452 semapv:UnspecifiedMatching MONDO:0018809 idiopathic peliosis hepatis skos:exactMatch Orphanet:480524 Idiopathic peliosis hepatis semapv:UnspecifiedMatching MONDO:0018809 idiopathic peliosis hepatis skos:exactMatch UMLS:C5680101 semapv:UnspecifiedMatching MONDO:0018810 lethal hydranencephaly-diaphragmatic hernia syndrome skos:exactMatch MEDGEN:1798950 semapv:UnspecifiedMatching MONDO:0018810 lethal hydranencephaly-diaphragmatic hernia syndrome skos:exactMatch Orphanet:480528 Lethal hydranencephaly-diaphragmatic hernia syndrome semapv:UnspecifiedMatching MONDO:0018810 lethal hydranencephaly-diaphragmatic hernia syndrome skos:exactMatch UMLS:C5567527 semapv:UnspecifiedMatching MONDO:0018811 congenital portosystemic shunt skos:exactMatch MEDGEN:712860 semapv:UnspecifiedMatching MONDO:0018811 congenital portosystemic shunt skos:exactMatch Orphanet:480531 Congenital portosystemic shunt semapv:UnspecifiedMatching MONDO:0018811 congenital portosystemic shunt skos:exactMatch UMLS:C1290495 semapv:UnspecifiedMatching MONDO:0018811 congenital portosystemic shunt skos:exactMatch icd11.foundation:682625970 Congenital portosystemic shunt semapv:UnspecifiedMatching MONDO:0018813 high grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement skos:exactMatch MEDGEN:1617477 semapv:UnspecifiedMatching MONDO:0018813 high grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement skos:exactMatch Orphanet:480541 High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement semapv:UnspecifiedMatching MONDO:0018813 high grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement skos:exactMatch UMLS:C4524190 semapv:UnspecifiedMatching MONDO:0018814 non-SCID combined immunodeficiency skos:exactMatch MEDGEN:1842865 semapv:UnspecifiedMatching MONDO:0018814 non-SCID combined immunodeficiency skos:exactMatch Orphanet:480549 Non-severe combined immunodeficiency semapv:UnspecifiedMatching MONDO:0018814 non-SCID combined immunodeficiency skos:exactMatch UMLS:C5680098 semapv:UnspecifiedMatching MONDO:0018815 aneurysmal bone cyst skos:exactMatch EFO:1001760 semapv:UnspecifiedMatching MONDO:0018815 aneurysmal bone cyst skos:exactMatch ICD10CM:M85.5 Aneurysmal bone cyst semapv:UnspecifiedMatching MONDO:0018815 aneurysmal bone cyst skos:exactMatch MEDGEN:57758 semapv:UnspecifiedMatching MONDO:0018815 aneurysmal bone cyst skos:exactMatch NCIT:C3516 Aneurysmal Bone Cyst semapv:UnspecifiedMatching MONDO:0018815 aneurysmal bone cyst skos:exactMatch OMIM:606179 aneurysmal bone cysts semapv:UnspecifiedMatching MONDO:0018815 aneurysmal bone cyst skos:exactMatch Orphanet:480553 Aneurysmal bone cyst semapv:UnspecifiedMatching MONDO:0018815 aneurysmal bone cyst skos:exactMatch SCTID:203468000 semapv:UnspecifiedMatching MONDO:0018815 aneurysmal bone cyst skos:exactMatch UMLS:C0152244 semapv:UnspecifiedMatching MONDO:0018815 aneurysmal bone cyst skos:exactMatch icd11.foundation:1603788294 Aneurysmal bone cyst semapv:UnspecifiedMatching MONDO:0018815 aneurysmal bone cyst skos:exactMatch mesh:D017824 semapv:UnspecifiedMatching MONDO:0018816 isolated neonatal sclerosing cholangitis skos:exactMatch MEDGEN:1393230 semapv:UnspecifiedMatching MONDO:0018816 isolated neonatal sclerosing cholangitis skos:exactMatch OMIM:617394 sclerosing cholangitis, neonatal semapv:UnspecifiedMatching MONDO:0018816 isolated neonatal sclerosing cholangitis skos:exactMatch Orphanet:480556 Isolated neonatal sclerosing cholangitis semapv:UnspecifiedMatching MONDO:0018816 isolated neonatal sclerosing cholangitis skos:exactMatch UMLS:C4479344 semapv:UnspecifiedMatching MONDO:0018818 facial diplegia with paresthesias skos:exactMatch MEDGEN:1798949 semapv:UnspecifiedMatching MONDO:0018818 facial diplegia with paresthesias skos:exactMatch Orphanet:480701 Facial diplegia with paresthesias semapv:UnspecifiedMatching MONDO:0018818 facial diplegia with paresthesias skos:exactMatch UMLS:C5567526 semapv:UnspecifiedMatching MONDO:0018820 recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome skos:exactMatch DOID:0081386 TANGO2-related metabolic encephalopathy and arrythmias semapv:UnspecifiedMatching MONDO:0018820 recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome skos:exactMatch MEDGEN:1798947 semapv:UnspecifiedMatching MONDO:0018820 recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome skos:exactMatch OMIM:616878 metabolic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration semapv:UnspecifiedMatching MONDO:0018820 recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome skos:exactMatch Orphanet:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0018820 recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome skos:exactMatch UMLS:C5567524 semapv:UnspecifiedMatching MONDO:0018821 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability skos:exactMatch MEDGEN:1798946 semapv:UnspecifiedMatching MONDO:0018821 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability skos:exactMatch Orphanet:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability semapv:UnspecifiedMatching MONDO:0018821 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability skos:exactMatch UMLS:C5567523 semapv:UnspecifiedMatching MONDO:0018822 global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome skos:exactMatch MEDGEN:1798945 semapv:UnspecifiedMatching MONDO:0018822 global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome skos:exactMatch Orphanet:480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome semapv:UnspecifiedMatching MONDO:0018822 global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome skos:exactMatch UMLS:C5567522 semapv:UnspecifiedMatching MONDO:0018824 pyoderma gangrenosum skos:exactMatch DOID:8553 pyoderma gangrenosum semapv:UnspecifiedMatching MONDO:0018824 pyoderma gangrenosum skos:exactMatch ICD10CM:L88 Pyoderma gangrenosum semapv:UnspecifiedMatching MONDO:0018824 pyoderma gangrenosum skos:exactMatch ICD10WHO:L88 Pyoderma gangrenosum semapv:UnspecifiedMatching MONDO:0018824 pyoderma gangrenosum skos:exactMatch MEDGEN:43224 semapv:UnspecifiedMatching MONDO:0018824 pyoderma gangrenosum skos:exactMatch Orphanet:48104 Pyoderma gangrenosum semapv:UnspecifiedMatching MONDO:0018824 pyoderma gangrenosum skos:exactMatch SCTID:74578003 semapv:UnspecifiedMatching MONDO:0018824 pyoderma gangrenosum skos:exactMatch UMLS:C0085652 semapv:UnspecifiedMatching MONDO:0018824 pyoderma gangrenosum skos:exactMatch icd11.foundation:2120746218 Pyoderma gangrenosum semapv:UnspecifiedMatching MONDO:0018824 pyoderma gangrenosum skos:exactMatch mesh:D017511 semapv:UnspecifiedMatching MONDO:0018826 Lewis-Sumner syndrome skos:exactMatch MEDGEN:798498 semapv:UnspecifiedMatching MONDO:0018826 Lewis-Sumner syndrome skos:exactMatch Orphanet:48162 Lewis-Sumner syndrome semapv:UnspecifiedMatching MONDO:0018826 Lewis-Sumner syndrome skos:exactMatch UMLS:C1695985 semapv:UnspecifiedMatching MONDO:0018827 familial chilblain lupus skos:exactMatch MEDGEN:1807766 semapv:UnspecifiedMatching MONDO:0018827 familial chilblain lupus skos:exactMatch OMIMPS:610448 Chilblain lupus semapv:UnspecifiedMatching MONDO:0018827 familial chilblain lupus skos:exactMatch Orphanet:481662 Familial Chilblain lupus semapv:UnspecifiedMatching MONDO:0018827 familial chilblain lupus skos:exactMatch UMLS:C5688224 semapv:UnspecifiedMatching MONDO:0018828 pseudo-TORCH syndrome 2 skos:exactMatch MEDGEN:1373355 semapv:UnspecifiedMatching MONDO:0018828 pseudo-TORCH syndrome 2 skos:exactMatch OMIM:617397 pseudo-torch syndrome 2 semapv:UnspecifiedMatching MONDO:0018828 pseudo-TORCH syndrome 2 skos:exactMatch Orphanet:481665 USP18 deficiency semapv:UnspecifiedMatching MONDO:0018828 pseudo-TORCH syndrome 2 skos:exactMatch UMLS:C4479376 semapv:UnspecifiedMatching MONDO:0018829 familial schizencephaly skos:exactMatch MEDGEN:419186 semapv:UnspecifiedMatching MONDO:0018829 familial schizencephaly skos:exactMatch Orphanet:481986 Familial schizencephaly semapv:UnspecifiedMatching MONDO:0018829 familial schizencephaly skos:exactMatch UMLS:C2931870 semapv:UnspecifiedMatching MONDO:0018829 familial schizencephaly skos:exactMatch mesh:C538514 semapv:UnspecifiedMatching MONDO:0018830 Kimura disease skos:exactMatch DOID:7365 Kimura disease semapv:UnspecifiedMatching MONDO:0018830 Kimura disease skos:exactMatch EFO:1000722 semapv:UnspecifiedMatching MONDO:0018830 Kimura disease skos:exactMatch MEDGEN:46183 semapv:UnspecifiedMatching MONDO:0018830 Kimura disease skos:exactMatch NCIT:C26867 Kimura Disease semapv:UnspecifiedMatching MONDO:0018830 Kimura disease skos:exactMatch Orphanet:482 Kimura disease semapv:UnspecifiedMatching MONDO:0018830 Kimura disease skos:exactMatch UMLS:C0033838 semapv:UnspecifiedMatching MONDO:0018830 Kimura disease skos:exactMatch icd11.foundation:1229046951 Kimura disease semapv:UnspecifiedMatching MONDO:0018830 Kimura disease skos:exactMatch mesh:D000082242 semapv:UnspecifiedMatching MONDO:0018830 Kimura disease skos:exactMatch mesh:D000796 semapv:UnspecifiedMatching MONDO:0018831 obsolete HTRA1-related cerebral small vessel disease skos:exactMatch Orphanet:482072 HTRA1-related cerebral small vessel disease semapv:UnspecifiedMatching MONDO:0018832 HTRA1-related autosomal dominant cerebral small vessel disease skos:exactMatch MEDGEN:1799991 semapv:UnspecifiedMatching MONDO:0018832 HTRA1-related autosomal dominant cerebral small vessel disease skos:exactMatch Orphanet:482077 HTRA1-related autosomal dominant cerebral small vessel disease semapv:UnspecifiedMatching MONDO:0018832 HTRA1-related autosomal dominant cerebral small vessel disease skos:exactMatch UMLS:C5568568 semapv:UnspecifiedMatching MONDO:0018833 obsolete rare idiopathic macular telangiectasia skos:exactMatch Orphanet:482092 Rare idiopathic macular telangiectasia semapv:UnspecifiedMatching MONDO:0018835 nodular regenerative hyperplasia of the liver skos:exactMatch MEDGEN:1830387 semapv:UnspecifiedMatching MONDO:0018835 nodular regenerative hyperplasia of the liver skos:exactMatch Orphanet:48372 Nodular regenerative hyperplasia of the liver semapv:UnspecifiedMatching MONDO:0018835 nodular regenerative hyperplasia of the liver skos:exactMatch SCTID:715140008 semapv:UnspecifiedMatching MONDO:0018835 nodular regenerative hyperplasia of the liver skos:exactMatch UMLS:C5779783 semapv:UnspecifiedMatching MONDO:0018835 nodular regenerative hyperplasia of the liver skos:exactMatch icd11.foundation:1642018758 Nodular regenerative hyperplasia of liver semapv:UnspecifiedMatching MONDO:0018837 postinfectious vasculitis skos:exactMatch MEDGEN:1376009 semapv:UnspecifiedMatching MONDO:0018837 postinfectious vasculitis skos:exactMatch Orphanet:48435 Postinfectious vasculitis semapv:UnspecifiedMatching MONDO:0018837 postinfectious vasculitis skos:exactMatch SCTID:724063005 semapv:UnspecifiedMatching MONDO:0018837 postinfectious vasculitis skos:exactMatch UMLS:C4510302 semapv:UnspecifiedMatching MONDO:0018838 lissencephaly spectrum disorders skos:exactMatch DOID:0050453 lissencephaly semapv:UnspecifiedMatching MONDO:0018838 lissencephaly spectrum disorders skos:exactMatch MEDGEN:78604 semapv:UnspecifiedMatching MONDO:0018838 lissencephaly spectrum disorders skos:exactMatch NCIT:C103921 Lissencephaly semapv:UnspecifiedMatching MONDO:0018838 lissencephaly spectrum disorders skos:exactMatch OMIMPS:607432 Lissencephaly semapv:UnspecifiedMatching MONDO:0018838 lissencephaly spectrum disorders skos:exactMatch Orphanet:48471 Lissencephaly semapv:UnspecifiedMatching MONDO:0018838 lissencephaly spectrum disorders skos:exactMatch SCTID:204036008 semapv:UnspecifiedMatching MONDO:0018838 lissencephaly spectrum disorders skos:exactMatch UMLS:C0266463 semapv:UnspecifiedMatching MONDO:0018838 lissencephaly spectrum disorders skos:exactMatch mesh:D054082 semapv:UnspecifiedMatching MONDO:0018839 acquired schizencephaly skos:exactMatch MEDGEN:1825983 semapv:UnspecifiedMatching MONDO:0018839 acquired schizencephaly skos:exactMatch Orphanet:485275 Acquired schizencephaly semapv:UnspecifiedMatching MONDO:0018839 acquired schizencephaly skos:exactMatch UMLS:C5681246 semapv:UnspecifiedMatching MONDO:0018840 isolated congenital hepatic fibrosis skos:exactMatch MEDGEN:40449 semapv:UnspecifiedMatching MONDO:0018840 isolated congenital hepatic fibrosis skos:exactMatch NCIT:C97071 Congenital Hepatic Fibrosis semapv:UnspecifiedMatching MONDO:0018840 isolated congenital hepatic fibrosis skos:exactMatch Orphanet:485426 Isolated congenital hepatic fibrosis semapv:UnspecifiedMatching MONDO:0018840 isolated congenital hepatic fibrosis skos:exactMatch SCTID:79607001 semapv:UnspecifiedMatching MONDO:0018840 isolated congenital hepatic fibrosis skos:exactMatch UMLS:C0009714 semapv:UnspecifiedMatching MONDO:0018840 isolated congenital hepatic fibrosis skos:exactMatch mesh:C562378 semapv:UnspecifiedMatching MONDO:0018841 congenital bile acid synthesis defect skos:exactMatch DOID:0050674 congenital bile acid synthesis defect semapv:UnspecifiedMatching MONDO:0018841 congenital bile acid synthesis defect skos:exactMatch EFO:0009039 semapv:UnspecifiedMatching MONDO:0018841 congenital bile acid synthesis defect skos:exactMatch MEDGEN:1826069 semapv:UnspecifiedMatching MONDO:0018841 congenital bile acid synthesis defect skos:exactMatch OMIMPS:607765 Bile acid synthesis defect, congenital semapv:UnspecifiedMatching MONDO:0018841 congenital bile acid synthesis defect skos:exactMatch Orphanet:485631 Congenital bile acid synthesis defect semapv:UnspecifiedMatching MONDO:0018841 congenital bile acid synthesis defect skos:exactMatch UMLS:C5680095 semapv:UnspecifiedMatching MONDO:0018842 primary effusion lymphoma skos:exactMatch EFO:1000491 semapv:UnspecifiedMatching MONDO:0018842 primary effusion lymphoma skos:exactMatch MEDGEN:220953 semapv:UnspecifiedMatching MONDO:0018842 primary effusion lymphoma skos:exactMatch NCIT:C6915 Primary Effusion Lymphoma semapv:UnspecifiedMatching MONDO:0018842 primary effusion lymphoma skos:exactMatch Orphanet:48686 Primary effusion lymphoma semapv:UnspecifiedMatching MONDO:0018842 primary effusion lymphoma skos:exactMatch SCTID:713516007 semapv:UnspecifiedMatching MONDO:0018842 primary effusion lymphoma skos:exactMatch UMLS:C1292753 semapv:UnspecifiedMatching MONDO:0018842 primary effusion lymphoma skos:exactMatch icd11.foundation:697911710 Primary effusion lymphoma semapv:UnspecifiedMatching MONDO:0018842 primary effusion lymphoma skos:exactMatch mesh:D054685 semapv:UnspecifiedMatching MONDO:0018843 embryonal carcinoma of the central nervous system skos:exactMatch DOID:7232 central nervous system embryonal carcinoma semapv:UnspecifiedMatching MONDO:0018843 embryonal carcinoma of the central nervous system skos:exactMatch MEDGEN:272566 semapv:UnspecifiedMatching MONDO:0018843 embryonal carcinoma of the central nervous system skos:exactMatch NCIT:C7010 Central Nervous System Embryonal Carcinoma semapv:UnspecifiedMatching MONDO:0018843 embryonal carcinoma of the central nervous system skos:exactMatch Orphanet:48736 Embryonal carcinoma of the central nervous system semapv:UnspecifiedMatching MONDO:0018843 embryonal carcinoma of the central nervous system skos:exactMatch UMLS:C1333377 semapv:UnspecifiedMatching MONDO:0018844 urachal cyst skos:exactMatch MEDGEN:21770 semapv:UnspecifiedMatching MONDO:0018844 urachal cyst skos:exactMatch NCIT:C85216 Urachal Cyst semapv:UnspecifiedMatching MONDO:0018844 urachal cyst skos:exactMatch Orphanet:488 Urachal cyst semapv:UnspecifiedMatching MONDO:0018844 urachal cyst skos:exactMatch SCTID:17234001 semapv:UnspecifiedMatching MONDO:0018844 urachal cyst skos:exactMatch UMLS:C0041915 semapv:UnspecifiedMatching MONDO:0018844 urachal cyst skos:exactMatch icd11.foundation:1125432593 Urachal cyst semapv:UnspecifiedMatching MONDO:0018844 urachal cyst skos:exactMatch mesh:D014496 semapv:UnspecifiedMatching MONDO:0018845 focal myositis skos:exactMatch MEDGEN:592748 semapv:UnspecifiedMatching MONDO:0018845 focal myositis skos:exactMatch Orphanet:48918 Focal myositis semapv:UnspecifiedMatching MONDO:0018845 focal myositis skos:exactMatch SCTID:240119009 semapv:UnspecifiedMatching MONDO:0018845 focal myositis skos:exactMatch UMLS:C0409988 semapv:UnspecifiedMatching MONDO:0018845 focal myositis skos:exactMatch icd11.foundation:708931518 Focal myositis semapv:UnspecifiedMatching MONDO:0018846 penile agenesis skos:exactMatch MEDGEN:278031 semapv:UnspecifiedMatching MONDO:0018846 penile agenesis skos:exactMatch NCIT:C99009 Penile Agenesis semapv:UnspecifiedMatching MONDO:0018846 penile agenesis skos:exactMatch Orphanet:49 Penile agenesis semapv:UnspecifiedMatching MONDO:0018846 penile agenesis skos:exactMatch SCTID:59981001 semapv:UnspecifiedMatching MONDO:0018846 penile agenesis skos:exactMatch UMLS:C1387005 semapv:UnspecifiedMatching MONDO:0018846 penile agenesis skos:exactMatch mesh:C536649 semapv:UnspecifiedMatching MONDO:0018847 omphalomesenteric cyst skos:exactMatch MEDGEN:120570 semapv:UnspecifiedMatching MONDO:0018847 omphalomesenteric cyst skos:exactMatch Orphanet:490 Omphalomesenteric cyst semapv:UnspecifiedMatching MONDO:0018847 omphalomesenteric cyst skos:exactMatch SCTID:80880002 semapv:UnspecifiedMatching MONDO:0018847 omphalomesenteric cyst skos:exactMatch UMLS:C0266180 semapv:UnspecifiedMatching MONDO:0018848 IgG4-related retroperitoneal fibrosis skos:exactMatch MEDGEN:20554 semapv:UnspecifiedMatching MONDO:0018848 IgG4-related retroperitoneal fibrosis skos:exactMatch NCIT:C26876 Retroperitoneal Fibrosis semapv:UnspecifiedMatching MONDO:0018848 IgG4-related retroperitoneal fibrosis skos:exactMatch Orphanet:49041 IgG4-related retroperitoneal fibrosis semapv:UnspecifiedMatching MONDO:0018848 IgG4-related retroperitoneal fibrosis skos:exactMatch SCTID:197808006 semapv:UnspecifiedMatching MONDO:0018848 IgG4-related retroperitoneal fibrosis skos:exactMatch UMLS:C0035357 semapv:UnspecifiedMatching MONDO:0018848 IgG4-related retroperitoneal fibrosis skos:exactMatch icd11.foundation:900354709 IgG4-related retroperitoneal fibrosis semapv:UnspecifiedMatching MONDO:0018848 IgG4-related retroperitoneal fibrosis skos:exactMatch mesh:D012185 semapv:UnspecifiedMatching MONDO:0018849 dentinogenesis imperfecta skos:exactMatch DOID:4154 dentinogenesis imperfecta semapv:UnspecifiedMatching MONDO:0018849 dentinogenesis imperfecta skos:exactMatch MEDGEN:8313 semapv:UnspecifiedMatching MONDO:0018849 dentinogenesis imperfecta skos:exactMatch NCIT:C84667 Dentinogenesis Imperfecta semapv:UnspecifiedMatching MONDO:0018849 dentinogenesis imperfecta skos:exactMatch Orphanet:49042 Dentinogenesis imperfecta semapv:UnspecifiedMatching MONDO:0018849 dentinogenesis imperfecta skos:exactMatch SCTID:196286005 semapv:UnspecifiedMatching MONDO:0018849 dentinogenesis imperfecta skos:exactMatch UMLS:C0011436 semapv:UnspecifiedMatching MONDO:0018849 dentinogenesis imperfecta skos:exactMatch icd11.foundation:2090257992 Dentinogenesis imperfecta semapv:UnspecifiedMatching MONDO:0018849 dentinogenesis imperfecta skos:exactMatch mesh:D003811 semapv:UnspecifiedMatching MONDO:0018850 proliferating trichilemmal cyst skos:exactMatch MEDGEN:754766 semapv:UnspecifiedMatching MONDO:0018850 proliferating trichilemmal cyst skos:exactMatch NCIT:C27125 Proliferating Trichilemmal Tumor semapv:UnspecifiedMatching MONDO:0018850 proliferating trichilemmal cyst skos:exactMatch Orphanet:492 Proliferating trichilemmal cyst semapv:UnspecifiedMatching MONDO:0018850 proliferating trichilemmal cyst skos:exactMatch SCTID:254678009 semapv:UnspecifiedMatching MONDO:0018850 proliferating trichilemmal cyst skos:exactMatch UMLS:C2959585 semapv:UnspecifiedMatching MONDO:0018851 familial keratoacanthoma skos:exactMatch MEDGEN:1843863 semapv:UnspecifiedMatching MONDO:0018851 familial keratoacanthoma skos:exactMatch Orphanet:493 Familial keratoacanthoma semapv:UnspecifiedMatching MONDO:0018851 familial keratoacanthoma skos:exactMatch SCTID:716774008 semapv:UnspecifiedMatching MONDO:0018851 familial keratoacanthoma skos:exactMatch UMLS:C5848325 semapv:UnspecifiedMatching MONDO:0018852 achromatopsia skos:exactMatch DOID:13911 achromatopsia semapv:UnspecifiedMatching MONDO:0018852 achromatopsia skos:exactMatch ICD10CM:H53.51 Achromatopsia semapv:UnspecifiedMatching MONDO:0018852 achromatopsia skos:exactMatch MEDGEN:57751 semapv:UnspecifiedMatching MONDO:0018852 achromatopsia skos:exactMatch NCIT:C84528 Achromatopsia semapv:UnspecifiedMatching MONDO:0018852 achromatopsia skos:exactMatch Orphanet:49382 Achromatopsia semapv:UnspecifiedMatching MONDO:0018852 achromatopsia skos:exactMatch SCTID:102450007 semapv:UnspecifiedMatching MONDO:0018852 achromatopsia skos:exactMatch UMLS:C0152200 semapv:UnspecifiedMatching MONDO:0018853 transgrediens et progrediens palmoplantar keratoderma skos:exactMatch MEDGEN:338702 semapv:UnspecifiedMatching MONDO:0018853 transgrediens et progrediens palmoplantar keratoderma skos:exactMatch Orphanet:495 Transgrediens et progrediens palmoplantar keratoderma semapv:UnspecifiedMatching MONDO:0018853 transgrediens et progrediens palmoplantar keratoderma skos:exactMatch UMLS:C1851480 semapv:UnspecifiedMatching MONDO:0018854 acquired purpura fulminans skos:exactMatch MEDGEN:1377273 semapv:UnspecifiedMatching MONDO:0018854 acquired purpura fulminans skos:exactMatch Orphanet:49566 Acquired purpura fulminans semapv:UnspecifiedMatching MONDO:0018854 acquired purpura fulminans skos:exactMatch SCTID:725157006 semapv:UnspecifiedMatching MONDO:0018854 acquired purpura fulminans skos:exactMatch UMLS:C4510896 semapv:UnspecifiedMatching MONDO:0018855 keratosis pilaris atrophicans skos:exactMatch DOID:0080751 keratosis pilaris atrophicans semapv:UnspecifiedMatching MONDO:0018855 keratosis pilaris atrophicans skos:exactMatch MEDGEN:75520 semapv:UnspecifiedMatching MONDO:0018855 keratosis pilaris atrophicans skos:exactMatch OMIM:604093 keratosis pilaris atrophicans semapv:UnspecifiedMatching MONDO:0018855 keratosis pilaris atrophicans skos:exactMatch Orphanet:498 Keratosis pilaris atrophicans semapv:UnspecifiedMatching MONDO:0018855 keratosis pilaris atrophicans skos:exactMatch SCTID:400059005 semapv:UnspecifiedMatching MONDO:0018855 keratosis pilaris atrophicans skos:exactMatch UMLS:C0263428 semapv:UnspecifiedMatching MONDO:0018855 keratosis pilaris atrophicans skos:exactMatch icd11.foundation:273325594 Keratosis pilaris atrophicans semapv:UnspecifiedMatching MONDO:0018855 keratosis pilaris atrophicans skos:exactMatch mesh:C537412 semapv:UnspecifiedMatching MONDO:0018856 lichen amyloidosis skos:exactMatch MEDGEN:1830282 semapv:UnspecifiedMatching MONDO:0018856 lichen amyloidosis skos:exactMatch Orphanet:49804 Lichen amyloidosis semapv:UnspecifiedMatching MONDO:0018856 lichen amyloidosis skos:exactMatch SCTID:718105008 semapv:UnspecifiedMatching MONDO:0018856 lichen amyloidosis skos:exactMatch UMLS:C5779561 semapv:UnspecifiedMatching MONDO:0018857 creeping myiasis skos:exactMatch MEDGEN:287068 semapv:UnspecifiedMatching MONDO:0018857 creeping myiasis skos:exactMatch Orphanet:504 Creeping myiasis semapv:UnspecifiedMatching MONDO:0018857 creeping myiasis skos:exactMatch SCTID:417441005 semapv:UnspecifiedMatching MONDO:0018857 creeping myiasis skos:exactMatch UMLS:C1562462 semapv:UnspecifiedMatching MONDO:0018857 creeping myiasis skos:exactMatch icd11.foundation:1282509430 Creeping myiasis semapv:UnspecifiedMatching MONDO:0018858 Graham Little-Piccardi-Lassueur syndrome skos:exactMatch MEDGEN:905915 semapv:UnspecifiedMatching MONDO:0018858 Graham Little-Piccardi-Lassueur syndrome skos:exactMatch Orphanet:505 Graham Little-Piccardi-Lassueur syndrome semapv:UnspecifiedMatching MONDO:0018858 Graham Little-Piccardi-Lassueur syndrome skos:exactMatch SCTID:718215008 semapv:UnspecifiedMatching MONDO:0018858 Graham Little-Piccardi-Lassueur syndrome skos:exactMatch UMLS:C4273658 semapv:UnspecifiedMatching MONDO:0018860 microlissencephaly-micromelia syndrome skos:exactMatch MEDGEN:1377242 semapv:UnspecifiedMatching MONDO:0018860 microlissencephaly-micromelia syndrome skos:exactMatch Orphanet:50810 Microlissencephaly-micromelia syndrome semapv:UnspecifiedMatching MONDO:0018860 microlissencephaly-micromelia syndrome skos:exactMatch UMLS:C4509878 semapv:UnspecifiedMatching MONDO:0018861 Zellweger-like syndrome without peroxisomal anomalies skos:exactMatch MEDGEN:930773 semapv:UnspecifiedMatching MONDO:0018861 Zellweger-like syndrome without peroxisomal anomalies skos:exactMatch Orphanet:50812 Zellweger-like syndrome without peroxisomal anomalies semapv:UnspecifiedMatching MONDO:0018861 Zellweger-like syndrome without peroxisomal anomalies skos:exactMatch SCTID:718880003 semapv:UnspecifiedMatching MONDO:0018861 Zellweger-like syndrome without peroxisomal anomalies skos:exactMatch UMLS:C4305104 semapv:UnspecifiedMatching MONDO:0018861 Zellweger-like syndrome without peroxisomal anomalies skos:exactMatch icd11.foundation:697302760 Zellweger-like syndrome without peroxisomal anomalies semapv:UnspecifiedMatching MONDO:0018864 Kikuchi-Fujimoto disease skos:exactMatch MEDGEN:97979 semapv:UnspecifiedMatching MONDO:0018864 Kikuchi-Fujimoto disease skos:exactMatch NCIT:C71719 Kikuchi-Fujimoto Disease semapv:UnspecifiedMatching MONDO:0018864 Kikuchi-Fujimoto disease skos:exactMatch Orphanet:50918 Kikuchi-Fujimoto disease semapv:UnspecifiedMatching MONDO:0018864 Kikuchi-Fujimoto disease skos:exactMatch SCTID:127217009 semapv:UnspecifiedMatching MONDO:0018864 Kikuchi-Fujimoto disease skos:exactMatch UMLS:C0398367 semapv:UnspecifiedMatching MONDO:0018864 Kikuchi-Fujimoto disease skos:exactMatch mesh:D020042 semapv:UnspecifiedMatching MONDO:0018865 striate palmoplantar keratoderma skos:exactMatch DOID:0081105 keratosis palmoplantaris striata semapv:UnspecifiedMatching MONDO:0018865 striate palmoplantar keratoderma skos:exactMatch MEDGEN:1631598 semapv:UnspecifiedMatching MONDO:0018865 striate palmoplantar keratoderma skos:exactMatch Orphanet:50942 Striate palmoplantar keratoderma semapv:UnspecifiedMatching MONDO:0018865 striate palmoplantar keratoderma skos:exactMatch SCTID:764958008 semapv:UnspecifiedMatching MONDO:0018865 striate palmoplantar keratoderma skos:exactMatch UMLS:C4707237 semapv:UnspecifiedMatching MONDO:0018865 striate palmoplantar keratoderma skos:exactMatch icd11.foundation:1171134598 Striate palmoplantar keratoderma semapv:UnspecifiedMatching MONDO:0018866 Aicardi-Goutieres syndrome skos:exactMatch DOID:0050629 Aicardi-Goutieres syndrome semapv:UnspecifiedMatching MONDO:0018866 Aicardi-Goutieres syndrome skos:exactMatch MEDGEN:97953 semapv:UnspecifiedMatching MONDO:0018866 Aicardi-Goutieres syndrome skos:exactMatch OMIMPS:225750 Aicardi-Goutieres syndrome semapv:UnspecifiedMatching MONDO:0018866 Aicardi-Goutieres syndrome skos:exactMatch Orphanet:51 Aicardi-Goutières syndrome semapv:UnspecifiedMatching MONDO:0018866 Aicardi-Goutieres syndrome skos:exactMatch SCTID:230312006 semapv:UnspecifiedMatching MONDO:0018866 Aicardi-Goutieres syndrome skos:exactMatch UMLS:C0393591 semapv:UnspecifiedMatching MONDO:0018866 Aicardi-Goutieres syndrome skos:exactMatch mesh:C535607 semapv:UnspecifiedMatching MONDO:0018868 metachromatic leukodystrophy skos:exactMatch DOID:10581 metachromatic leukodystrophy semapv:UnspecifiedMatching MONDO:0018868 metachromatic leukodystrophy skos:exactMatch ICD10CM:E75.25 Metachromatic leukodystrophy semapv:UnspecifiedMatching MONDO:0018868 metachromatic leukodystrophy skos:exactMatch MEDGEN:6071 semapv:UnspecifiedMatching MONDO:0018868 metachromatic leukodystrophy skos:exactMatch NCIT:C61251 Metachromatic Leukodystrophy semapv:UnspecifiedMatching MONDO:0018868 metachromatic leukodystrophy skos:exactMatch Orphanet:512 Metachromatic leukodystrophy semapv:UnspecifiedMatching MONDO:0018868 metachromatic leukodystrophy skos:exactMatch SCTID:238031009 semapv:UnspecifiedMatching MONDO:0018868 metachromatic leukodystrophy skos:exactMatch SCTID:396338004 semapv:UnspecifiedMatching MONDO:0018868 metachromatic leukodystrophy skos:exactMatch SCTID:66521008 semapv:UnspecifiedMatching MONDO:0018868 metachromatic leukodystrophy skos:exactMatch UMLS:C0023522 semapv:UnspecifiedMatching MONDO:0018868 metachromatic leukodystrophy skos:exactMatch icd11.foundation:172326564 Metachromatic leukodystrophy semapv:UnspecifiedMatching MONDO:0018868 metachromatic leukodystrophy skos:exactMatch mesh:D007966 semapv:UnspecifiedMatching MONDO:0018869 cobblestone lissencephaly skos:exactMatch MEDGEN:96562 semapv:UnspecifiedMatching MONDO:0018869 cobblestone lissencephaly skos:exactMatch Orphanet:51577 Cobblestone lissencephaly semapv:UnspecifiedMatching MONDO:0018869 cobblestone lissencephaly skos:exactMatch SCTID:253149002 semapv:UnspecifiedMatching MONDO:0018869 cobblestone lissencephaly skos:exactMatch UMLS:C0431376 semapv:UnspecifiedMatching MONDO:0018869 cobblestone lissencephaly skos:exactMatch mesh:D054222 semapv:UnspecifiedMatching MONDO:0018870 arterial calcification of infancy skos:exactMatch DOID:0050644 arterial calcification of infancy semapv:UnspecifiedMatching MONDO:0018870 arterial calcification of infancy skos:exactMatch MEDGEN:395331 semapv:UnspecifiedMatching MONDO:0018870 arterial calcification of infancy skos:exactMatch OMIMPS:208000 Generalized arterial calcification of infancy semapv:UnspecifiedMatching MONDO:0018870 arterial calcification of infancy skos:exactMatch Orphanet:51608 Generalized arterial calcification of infancy semapv:UnspecifiedMatching MONDO:0018870 arterial calcification of infancy skos:exactMatch UMLS:C1859727 semapv:UnspecifiedMatching MONDO:0018870 arterial calcification of infancy skos:exactMatch icd11.foundation:934461548 Generalised arterial calcification of infancy semapv:UnspecifiedMatching MONDO:0018870 arterial calcification of infancy skos:exactMatch mesh:C537440 semapv:UnspecifiedMatching MONDO:0018871 acute myelomonocytic leukemia M4 skos:exactMatch DOID:0081082 acute myelomonocytic leukemia semapv:UnspecifiedMatching MONDO:0018871 acute myelomonocytic leukemia M4 skos:exactMatch EFO:0000223 semapv:UnspecifiedMatching MONDO:0018871 acute myelomonocytic leukemia M4 skos:exactMatch ICD10CM:C92.5 Acute myelomonocytic leukemia semapv:UnspecifiedMatching MONDO:0018871 acute myelomonocytic leukemia M4 skos:exactMatch MEDGEN:9732 semapv:UnspecifiedMatching MONDO:0018871 acute myelomonocytic leukemia M4 skos:exactMatch NCIT:C7463 Acute Myelomonocytic Leukemia semapv:UnspecifiedMatching MONDO:0018871 acute myelomonocytic leukemia M4 skos:exactMatch Orphanet:517 Acute myelomonocytic leukemia semapv:UnspecifiedMatching MONDO:0018871 acute myelomonocytic leukemia M4 skos:exactMatch SCTID:110005000 semapv:UnspecifiedMatching MONDO:0018871 acute myelomonocytic leukemia M4 skos:exactMatch UMLS:C0023479 semapv:UnspecifiedMatching MONDO:0018871 acute myelomonocytic leukemia M4 skos:exactMatch icd11.foundation:1613358778 Acute myelomonocytic leukaemia semapv:UnspecifiedMatching MONDO:0018872 acute megakaryoblastic leukemia skos:exactMatch DOID:8761 acute megakaryocytic leukemia semapv:UnspecifiedMatching MONDO:0018872 acute megakaryoblastic leukemia skos:exactMatch EFO:0003025 semapv:UnspecifiedMatching MONDO:0018872 acute megakaryoblastic leukemia skos:exactMatch ICD10CM:C94.2 Acute megakaryoblastic leukemia semapv:UnspecifiedMatching MONDO:0018872 acute megakaryoblastic leukemia skos:exactMatch MEDGEN:44124 semapv:UnspecifiedMatching MONDO:0018872 acute megakaryoblastic leukemia skos:exactMatch NCIT:C3170 Acute Megakaryoblastic Leukemia semapv:UnspecifiedMatching MONDO:0018872 acute megakaryoblastic leukemia skos:exactMatch Orphanet:518 Acute megakaryoblastic leukemia semapv:UnspecifiedMatching MONDO:0018872 acute megakaryoblastic leukemia skos:exactMatch SCTID:277602003 semapv:UnspecifiedMatching MONDO:0018872 acute megakaryoblastic leukemia skos:exactMatch UMLS:C0023462 semapv:UnspecifiedMatching MONDO:0018872 acute megakaryoblastic leukemia skos:exactMatch icd11.foundation:2057381869 semapv:UnspecifiedMatching MONDO:0018872 acute megakaryoblastic leukemia skos:exactMatch mesh:D007947 semapv:UnspecifiedMatching MONDO:0018873 anterior cutaneous nerve entrapment syndrome skos:exactMatch MEDGEN:581659 semapv:UnspecifiedMatching MONDO:0018873 anterior cutaneous nerve entrapment syndrome skos:exactMatch Orphanet:51890 Anterior cutaneous nerve entrapment syndrome semapv:UnspecifiedMatching MONDO:0018873 anterior cutaneous nerve entrapment syndrome skos:exactMatch UMLS:C0393899 semapv:UnspecifiedMatching MONDO:0018874 acute myeloid leukemia skos:exactMatch DOID:9119 acute myeloid leukemia semapv:UnspecifiedMatching MONDO:0018874 acute myeloid leukemia skos:exactMatch EFO:0000222 semapv:UnspecifiedMatching MONDO:0018874 acute myeloid leukemia skos:exactMatch ICD10CM:C92.0 Acute myeloblastic leukemia semapv:UnspecifiedMatching MONDO:0018874 acute myeloid leukemia skos:exactMatch MEDGEN:9730 semapv:UnspecifiedMatching MONDO:0018874 acute myeloid leukemia skos:exactMatch NCIT:C3171 Acute Myeloid Leukemia semapv:UnspecifiedMatching MONDO:0018874 acute myeloid leukemia skos:exactMatch OMIM:601626 leukemia, acute myeloid semapv:UnspecifiedMatching MONDO:0018874 acute myeloid leukemia skos:exactMatch Orphanet:519 Acute myeloid leukemia semapv:UnspecifiedMatching MONDO:0018874 acute myeloid leukemia skos:exactMatch SCTID:91861009 semapv:UnspecifiedMatching MONDO:0018874 acute myeloid leukemia skos:exactMatch UMLS:C0023467 semapv:UnspecifiedMatching MONDO:0018874 acute myeloid leukemia skos:exactMatch mesh:D015470 semapv:UnspecifiedMatching MONDO:0018875 Li-Fraumeni syndrome skos:exactMatch DOID:0111503 Li-Fraumeni syndrome 1 semapv:UnspecifiedMatching MONDO:0018875 Li-Fraumeni syndrome skos:exactMatch DOID:3012 Li-Fraumeni syndrome semapv:UnspecifiedMatching MONDO:0018875 Li-Fraumeni syndrome skos:exactMatch MEDGEN:88399 semapv:UnspecifiedMatching MONDO:0018875 Li-Fraumeni syndrome skos:exactMatch NCIT:C3476 Li-Fraumeni Syndrome semapv:UnspecifiedMatching MONDO:0018875 Li-Fraumeni syndrome skos:exactMatch OMIM:151623 li-fraumeni syndrome semapv:UnspecifiedMatching MONDO:0018875 Li-Fraumeni syndrome skos:exactMatch Orphanet:524 Li-Fraumeni syndrome semapv:UnspecifiedMatching MONDO:0018875 Li-Fraumeni syndrome skos:exactMatch SCTID:428850001 semapv:UnspecifiedMatching MONDO:0018875 Li-Fraumeni syndrome skos:exactMatch UMLS:C0085390 semapv:UnspecifiedMatching MONDO:0018875 Li-Fraumeni syndrome skos:exactMatch icd11.foundation:1968061860 Li-Fraumeni syndrome semapv:UnspecifiedMatching MONDO:0018875 Li-Fraumeni syndrome skos:exactMatch mesh:D016864 semapv:UnspecifiedMatching MONDO:0018876 mantle cell lymphoma skos:exactMatch DOID:0050746 mantle cell lymphoma semapv:UnspecifiedMatching MONDO:0018876 mantle cell lymphoma skos:exactMatch EFO:1001469 semapv:UnspecifiedMatching MONDO:0018876 mantle cell lymphoma skos:exactMatch ICD10CM:C83.1 Mantle cell lymphoma semapv:UnspecifiedMatching MONDO:0018876 mantle cell lymphoma skos:exactMatch MEDGEN:1668377 semapv:UnspecifiedMatching MONDO:0018876 mantle cell lymphoma skos:exactMatch NCIT:C4337 Mantle Cell Lymphoma semapv:UnspecifiedMatching MONDO:0018876 mantle cell lymphoma skos:exactMatch Orphanet:52416 Mantle cell lymphoma semapv:UnspecifiedMatching MONDO:0018876 mantle cell lymphoma skos:exactMatch SCTID:443487006 semapv:UnspecifiedMatching MONDO:0018876 mantle cell lymphoma skos:exactMatch UMLS:C4721414 semapv:UnspecifiedMatching MONDO:0018876 mantle cell lymphoma skos:exactMatch icd11.foundation:1804127841 Mantle cell lymphoma semapv:UnspecifiedMatching MONDO:0018876 mantle cell lymphoma skos:exactMatch mesh:D020522 semapv:UnspecifiedMatching MONDO:0018877 retinitis punctata albescens skos:exactMatch MEDGEN:278050 semapv:UnspecifiedMatching MONDO:0018877 retinitis punctata albescens skos:exactMatch Orphanet:52427 Retinitis punctata albescens semapv:UnspecifiedMatching MONDO:0018877 retinitis punctata albescens skos:exactMatch SCTID:715562001 semapv:UnspecifiedMatching MONDO:0018877 retinitis punctata albescens skos:exactMatch UMLS:C1405854 semapv:UnspecifiedMatching MONDO:0018877 retinitis punctata albescens skos:exactMatch icd11.foundation:567796529 Retinitis punctata albescens semapv:UnspecifiedMatching MONDO:0018878 branchiootic syndrome skos:exactMatch DOID:0060232 branchiootic syndrome semapv:UnspecifiedMatching MONDO:0018878 branchiootic syndrome skos:exactMatch MEDGEN:1636666 semapv:UnspecifiedMatching MONDO:0018878 branchiootic syndrome skos:exactMatch OMIMPS:602588 Branchiootic syndrome semapv:UnspecifiedMatching MONDO:0018878 branchiootic syndrome skos:exactMatch Orphanet:52429 Branchiootic syndrome semapv:UnspecifiedMatching MONDO:0018878 branchiootic syndrome skos:exactMatch SCTID:764810000 semapv:UnspecifiedMatching MONDO:0018878 branchiootic syndrome skos:exactMatch UMLS:C4273131 semapv:UnspecifiedMatching MONDO:0018878 branchiootic syndrome skos:exactMatch mesh:C537104 semapv:UnspecifiedMatching MONDO:0018879 lichen planopilaris skos:exactMatch ICD10CM:L66.1 Lichen planopilaris semapv:UnspecifiedMatching MONDO:0018879 lichen planopilaris skos:exactMatch MEDGEN:44150 semapv:UnspecifiedMatching MONDO:0018879 lichen planopilaris skos:exactMatch Orphanet:525 Lichen planopilaris semapv:UnspecifiedMatching MONDO:0018879 lichen planopilaris skos:exactMatch SCTID:64540004 semapv:UnspecifiedMatching MONDO:0018879 lichen planopilaris skos:exactMatch UMLS:C0023645 semapv:UnspecifiedMatching MONDO:0018879 lichen planopilaris skos:exactMatch icd11.foundation:572258139 Lichen planopilaris semapv:UnspecifiedMatching MONDO:0018879 lichen planopilaris skos:exactMatch mesh:C535892 semapv:UnspecifiedMatching MONDO:0018880 obsolete rare teratologic disease skos:exactMatch Orphanet:52662 Rare teratologic disease semapv:UnspecifiedMatching MONDO:0018881 myelodysplastic syndrome skos:exactMatch DOID:0050908 myelodysplastic syndrome semapv:UnspecifiedMatching MONDO:0018881 myelodysplastic syndrome skos:exactMatch EFO:0000198 semapv:UnspecifiedMatching MONDO:0018881 myelodysplastic syndrome skos:exactMatch ICD10CM:D46 Myelodysplastic syndromes semapv:UnspecifiedMatching MONDO:0018881 myelodysplastic syndrome skos:exactMatch MEDGEN:483005 semapv:UnspecifiedMatching MONDO:0018881 myelodysplastic syndrome skos:exactMatch NCIT:C3247 Myelodysplastic Syndrome semapv:UnspecifiedMatching MONDO:0018881 myelodysplastic syndrome skos:exactMatch OMIM:614286 myelodysplastic syndrome semapv:UnspecifiedMatching MONDO:0018881 myelodysplastic syndrome skos:exactMatch Orphanet:52688 Myelodysplastic syndrome semapv:UnspecifiedMatching MONDO:0018881 myelodysplastic syndrome skos:exactMatch SCTID:109995007 semapv:UnspecifiedMatching MONDO:0018881 myelodysplastic syndrome skos:exactMatch UMLS:C3463824 semapv:UnspecifiedMatching MONDO:0018882 vasculitis skos:exactMatch DOID:865 vasculitis semapv:UnspecifiedMatching MONDO:0018882 vasculitis skos:exactMatch EFO:0006803 semapv:UnspecifiedMatching MONDO:0018882 vasculitis skos:exactMatch MEDGEN:12054 semapv:UnspecifiedMatching MONDO:0018882 vasculitis skos:exactMatch NCIT:C26912 Vasculitis semapv:UnspecifiedMatching MONDO:0018882 vasculitis skos:exactMatch Orphanet:52759 Vasculitis semapv:UnspecifiedMatching MONDO:0018882 vasculitis skos:exactMatch SCTID:31996006 semapv:UnspecifiedMatching MONDO:0018882 vasculitis skos:exactMatch UMLS:C0042384 semapv:UnspecifiedMatching MONDO:0018882 vasculitis skos:exactMatch icd11.foundation:572581721 Vasculitis semapv:UnspecifiedMatching MONDO:0018882 vasculitis skos:exactMatch mesh:D014657 semapv:UnspecifiedMatching MONDO:0018883 Berardinelli-Seip congenital lipodystrophy skos:exactMatch NCIT:C84594 Berardinelli-Seip Congenital Lipodystrophy semapv:UnspecifiedMatching MONDO:0018883 Berardinelli-Seip congenital lipodystrophy skos:exactMatch Orphanet:528 Congenital generalized lipodystrophy semapv:UnspecifiedMatching MONDO:0018883 Berardinelli-Seip congenital lipodystrophy skos:exactMatch icd11.foundation:1628738474 Berardinelli-Seip congenital lipodystrophy semapv:UnspecifiedMatching MONDO:0018883 Berardinelli-Seip congenital lipodystrophy skos:exactMatch icd11.foundation:641763399 Congenital generalised lipodystrophy semapv:UnspecifiedMatching MONDO:0018884 Roch-Leri mesosomatous lipomatosis skos:exactMatch MEDGEN:896565 semapv:UnspecifiedMatching MONDO:0018884 Roch-Leri mesosomatous lipomatosis skos:exactMatch Orphanet:529 Roch-Leri mesosomatous lipomatosis semapv:UnspecifiedMatching MONDO:0018884 Roch-Leri mesosomatous lipomatosis skos:exactMatch SCTID:716772007 semapv:UnspecifiedMatching MONDO:0018884 Roch-Leri mesosomatous lipomatosis skos:exactMatch UMLS:C4274284 semapv:UnspecifiedMatching MONDO:0018885 orbital leiomyoma skos:exactMatch MEDGEN:930669 semapv:UnspecifiedMatching MONDO:0018885 orbital leiomyoma skos:exactMatch Orphanet:52994 Orbital leiomyoma semapv:UnspecifiedMatching MONDO:0018885 orbital leiomyoma skos:exactMatch SCTID:719045009 semapv:UnspecifiedMatching MONDO:0018885 orbital leiomyoma skos:exactMatch UMLS:C4305000 semapv:UnspecifiedMatching MONDO:0018885 orbital leiomyoma skos:exactMatch icd11.foundation:614302400 Orbital leiomyoma semapv:UnspecifiedMatching MONDO:0018887 obsolete rare cutaneous lupus erythematosus skos:exactMatch Orphanet:535 Rare cutaneous lupus erythematosus semapv:UnspecifiedMatching MONDO:0018889 hyaline body myopathy skos:exactMatch DOID:0111267 hyaline body myopathy semapv:UnspecifiedMatching MONDO:0018889 hyaline body myopathy skos:exactMatch Orphanet:53698 Myosin storage myopathy semapv:UnspecifiedMatching MONDO:0018889 hyaline body myopathy skos:exactMatch icd11.foundation:352828432 Hyaline body myopathy semapv:UnspecifiedMatching MONDO:0018890 Lyell syndrome skos:exactMatch Orphanet:537 Toxic epidermal necrolysis semapv:UnspecifiedMatching MONDO:0018891 familial tumoral calcinosis skos:exactMatch EFO:0009385 semapv:UnspecifiedMatching MONDO:0018891 familial tumoral calcinosis skos:exactMatch MEDGEN:452340 semapv:UnspecifiedMatching MONDO:0018891 familial tumoral calcinosis skos:exactMatch Orphanet:53715 Familial tumoral calcinosis semapv:UnspecifiedMatching MONDO:0018891 familial tumoral calcinosis skos:exactMatch UMLS:C0263628 semapv:UnspecifiedMatching MONDO:0018892 Wyburn-Mason syndrome skos:exactMatch MEDGEN:120534 semapv:UnspecifiedMatching MONDO:0018892 Wyburn-Mason syndrome skos:exactMatch Orphanet:53719 Cerebrofacial arteriovenous metameric syndrome type 2 semapv:UnspecifiedMatching MONDO:0018892 Wyburn-Mason syndrome skos:exactMatch SCTID:6729006 semapv:UnspecifiedMatching MONDO:0018892 Wyburn-Mason syndrome skos:exactMatch UMLS:C0265321 semapv:UnspecifiedMatching MONDO:0018892 Wyburn-Mason syndrome skos:exactMatch mesh:C536752 semapv:UnspecifiedMatching MONDO:0018893 Cobb syndrome skos:exactMatch MEDGEN:91079 semapv:UnspecifiedMatching MONDO:0018893 Cobb syndrome skos:exactMatch NCIT:C4485 Cobb Syndrome semapv:UnspecifiedMatching MONDO:0018893 Cobb syndrome skos:exactMatch Orphanet:53721 Spinal arteriovenous metameric syndrome semapv:UnspecifiedMatching MONDO:0018893 Cobb syndrome skos:exactMatch SCTID:254774003 semapv:UnspecifiedMatching MONDO:0018893 Cobb syndrome skos:exactMatch UMLS:C0346068 semapv:UnspecifiedMatching MONDO:0018893 Cobb syndrome skos:exactMatch icd11.foundation:1451924695 Cobb syndrome semapv:UnspecifiedMatching MONDO:0018894 distal hereditary motor neuropathy skos:exactMatch MEDGEN:98274 semapv:UnspecifiedMatching MONDO:0018894 distal hereditary motor neuropathy skos:exactMatch Orphanet:53739 Distal hereditary motor neuropathy semapv:UnspecifiedMatching MONDO:0018894 distal hereditary motor neuropathy skos:exactMatch SCTID:230247001 semapv:UnspecifiedMatching MONDO:0018894 distal hereditary motor neuropathy skos:exactMatch UMLS:C0393541 semapv:UnspecifiedMatching MONDO:0018895 Plummer-Vinson syndrome skos:exactMatch ICD10CM:D50.1 Sideropenic dysphagia semapv:UnspecifiedMatching MONDO:0018895 Plummer-Vinson syndrome skos:exactMatch MEDGEN:45967 semapv:UnspecifiedMatching MONDO:0018895 Plummer-Vinson syndrome skos:exactMatch NCIT:C85016 Plummer-Vinson Syndrome semapv:UnspecifiedMatching MONDO:0018895 Plummer-Vinson syndrome skos:exactMatch Orphanet:54028 Plummer-Vinson syndrome semapv:UnspecifiedMatching MONDO:0018895 Plummer-Vinson syndrome skos:exactMatch SCTID:80126007 semapv:UnspecifiedMatching MONDO:0018895 Plummer-Vinson syndrome skos:exactMatch UMLS:C0032249 semapv:UnspecifiedMatching MONDO:0018895 Plummer-Vinson syndrome skos:exactMatch icd11.foundation:1568337509 Plummer-Vinson syndrome semapv:UnspecifiedMatching MONDO:0018895 Plummer-Vinson syndrome skos:exactMatch mesh:D011004 semapv:UnspecifiedMatching MONDO:0018896 thrombotic thrombocytopenic purpura skos:exactMatch DOID:10772 thrombotic thrombocytopenic purpura semapv:UnspecifiedMatching MONDO:0018896 thrombotic thrombocytopenic purpura skos:exactMatch MEDGEN:48266 semapv:UnspecifiedMatching MONDO:0018896 thrombotic thrombocytopenic purpura skos:exactMatch NCIT:C78797 Thrombotic Thrombocytopenic Purpura semapv:UnspecifiedMatching MONDO:0018896 thrombotic thrombocytopenic purpura skos:exactMatch Orphanet:54057 Thrombotic thrombocytopenic purpura semapv:UnspecifiedMatching MONDO:0018896 thrombotic thrombocytopenic purpura skos:exactMatch SCTID:78129009 semapv:UnspecifiedMatching MONDO:0018896 thrombotic thrombocytopenic purpura skos:exactMatch UMLS:C0034155 semapv:UnspecifiedMatching MONDO:0018896 thrombotic thrombocytopenic purpura skos:exactMatch icd11.foundation:1708277768 Thrombotic thrombocytopenic purpura semapv:UnspecifiedMatching MONDO:0018896 thrombotic thrombocytopenic purpura skos:exactMatch mesh:D011697 semapv:UnspecifiedMatching MONDO:0018897 primary cutaneous CD30+ T-cell lymphoproliferative disease skos:exactMatch MEDGEN:1843249 semapv:UnspecifiedMatching MONDO:0018897 primary cutaneous CD30+ T-cell lymphoproliferative disease skos:exactMatch NCIT:C7195 Primary Cutaneous CD30-Positive T-Cell Lymphoproliferative Disorder semapv:UnspecifiedMatching MONDO:0018897 primary cutaneous CD30+ T-cell lymphoproliferative disease skos:exactMatch Orphanet:541 Primary cutaneous CD30+ T-cell lymphoproliferative disease semapv:UnspecifiedMatching MONDO:0018897 primary cutaneous CD30+ T-cell lymphoproliferative disease skos:exactMatch UMLS:C5679826 semapv:UnspecifiedMatching MONDO:0018897 primary cutaneous CD30+ T-cell lymphoproliferative disease skos:exactMatch icd11.foundation:1046496266 Primary cutaneous CD30-positive T-cell lymphoproliferative disorders semapv:UnspecifiedMatching MONDO:0018898 primary cutaneous lymphoma skos:exactMatch MEDGEN:220981 semapv:UnspecifiedMatching MONDO:0018898 primary cutaneous lymphoma skos:exactMatch NCIT:C7162 Primary Cutaneous Lymphoma semapv:UnspecifiedMatching MONDO:0018898 primary cutaneous lymphoma skos:exactMatch Orphanet:542 Primary cutaneous lymphoma semapv:UnspecifiedMatching MONDO:0018898 primary cutaneous lymphoma skos:exactMatch SCTID:400001003 semapv:UnspecifiedMatching MONDO:0018898 primary cutaneous lymphoma skos:exactMatch UMLS:C1302772 semapv:UnspecifiedMatching MONDO:0018899 posterior cortical atrophy skos:exactMatch MEDGEN:909667 semapv:UnspecifiedMatching MONDO:0018899 posterior cortical atrophy skos:exactMatch Orphanet:54247 Posterior cortical atrophy semapv:UnspecifiedMatching MONDO:0018899 posterior cortical atrophy skos:exactMatch SCTID:715574002 semapv:UnspecifiedMatching MONDO:0018899 posterior cortical atrophy skos:exactMatch UMLS:C4275079 semapv:UnspecifiedMatching MONDO:0018899 posterior cortical atrophy skos:exactMatch icd11.foundation:377572273 Posterior cortical atrophy semapv:UnspecifiedMatching MONDO:0018900 corticosteroid-sensitive aseptic abscess syndrome skos:exactMatch MEDGEN:929532 semapv:UnspecifiedMatching MONDO:0018900 corticosteroid-sensitive aseptic abscess syndrome skos:exactMatch Orphanet:54251 Aseptic abscess syndrome semapv:UnspecifiedMatching MONDO:0018900 corticosteroid-sensitive aseptic abscess syndrome skos:exactMatch SCTID:720751000 semapv:UnspecifiedMatching MONDO:0018900 corticosteroid-sensitive aseptic abscess syndrome skos:exactMatch UMLS:C4303863 semapv:UnspecifiedMatching MONDO:0018901 left ventricular noncompaction skos:exactMatch DOID:0060480 left ventricular noncompaction semapv:UnspecifiedMatching MONDO:0018901 left ventricular noncompaction skos:exactMatch MEDGEN:450531 semapv:UnspecifiedMatching MONDO:0018901 left ventricular noncompaction skos:exactMatch NCIT:C99544 Left Ventricular Non-Compaction Syndrome semapv:UnspecifiedMatching MONDO:0018901 left ventricular noncompaction skos:exactMatch OMIMPS:604169 Left ventricular noncompaction semapv:UnspecifiedMatching MONDO:0018901 left ventricular noncompaction skos:exactMatch Orphanet:54260 Left ventricular noncompaction semapv:UnspecifiedMatching MONDO:0018901 left ventricular noncompaction skos:exactMatch UMLS:C1960469 semapv:UnspecifiedMatching MONDO:0018902 hepatocellular adenoma skos:exactMatch DOID:0050868 hepatocellular adenoma semapv:UnspecifiedMatching MONDO:0018902 hepatocellular adenoma skos:exactMatch EFO:0000762 semapv:UnspecifiedMatching MONDO:0018902 hepatocellular adenoma skos:exactMatch MEDGEN:61655 semapv:UnspecifiedMatching MONDO:0018902 hepatocellular adenoma skos:exactMatch NCIT:C3758 Hepatocellular Adenoma semapv:UnspecifiedMatching MONDO:0018902 hepatocellular adenoma skos:exactMatch Orphanet:54272 Hepatocellular adenoma semapv:UnspecifiedMatching MONDO:0018902 hepatocellular adenoma skos:exactMatch UMLS:C0206669 semapv:UnspecifiedMatching MONDO:0018902 hepatocellular adenoma skos:exactMatch icd11.foundation:1481070735 Hepatocellular adenoma semapv:UnspecifiedMatching MONDO:0018902 hepatocellular adenoma skos:exactMatch mesh:D018248 semapv:UnspecifiedMatching MONDO:0018903 sarcocystosis skos:exactMatch DOID:9640 sarcocystosis semapv:UnspecifiedMatching MONDO:0018903 sarcocystosis skos:exactMatch EFO:0007476 semapv:UnspecifiedMatching MONDO:0018903 sarcocystosis skos:exactMatch MEDGEN:48559 semapv:UnspecifiedMatching MONDO:0018903 sarcocystosis skos:exactMatch Orphanet:54368 Sarcocystosis semapv:UnspecifiedMatching MONDO:0018903 sarcocystosis skos:exactMatch SCTID:88905005 semapv:UnspecifiedMatching MONDO:0018903 sarcocystosis skos:exactMatch UMLS:C0036231 semapv:UnspecifiedMatching MONDO:0018903 sarcocystosis skos:exactMatch icd11.foundation:261748740 Sarcocystosis semapv:UnspecifiedMatching MONDO:0018903 sarcocystosis skos:exactMatch mesh:D012523 semapv:UnspecifiedMatching MONDO:0018904 primary membranoproliferative glomerulonephritis skos:exactMatch Orphanet:54370 Primary membranoproliferative glomerulonephritis semapv:UnspecifiedMatching MONDO:0018905 diffuse large B-cell lymphoma skos:exactMatch DOID:0050745 diffuse large B-cell lymphoma semapv:UnspecifiedMatching MONDO:0018905 diffuse large B-cell lymphoma skos:exactMatch EFO:0000403 semapv:UnspecifiedMatching MONDO:0018905 diffuse large B-cell lymphoma skos:exactMatch ICD10CM:C83.3 Diffuse large B-cell lymphoma semapv:UnspecifiedMatching MONDO:0018905 diffuse large B-cell lymphoma skos:exactMatch MEDGEN:86954 semapv:UnspecifiedMatching MONDO:0018905 diffuse large B-cell lymphoma skos:exactMatch NCIT:C8851 Diffuse Large B-Cell Lymphoma semapv:UnspecifiedMatching MONDO:0018905 diffuse large B-cell lymphoma skos:exactMatch Orphanet:544 Diffuse large B-cell lymphoma semapv:UnspecifiedMatching MONDO:0018905 diffuse large B-cell lymphoma skos:exactMatch UMLS:C0079744 semapv:UnspecifiedMatching MONDO:0018905 diffuse large B-cell lymphoma skos:exactMatch icd11.foundation:1946973604 Diffuse large B-cell lymphomas semapv:UnspecifiedMatching MONDO:0018905 diffuse large B-cell lymphoma skos:exactMatch mesh:D016403 semapv:UnspecifiedMatching MONDO:0018906 follicular lymphoma skos:exactMatch DOID:0050873 follicular lymphoma semapv:UnspecifiedMatching MONDO:0018906 follicular lymphoma skos:exactMatch ICD10CM:C82 Follicular lymphoma semapv:UnspecifiedMatching MONDO:0018906 follicular lymphoma skos:exactMatch ICD10WHO:C82 Follicular lymphoma semapv:UnspecifiedMatching MONDO:0018906 follicular lymphoma skos:exactMatch MEDGEN:7417 semapv:UnspecifiedMatching MONDO:0018906 follicular lymphoma skos:exactMatch NCIT:C3209 Follicular Lymphoma semapv:UnspecifiedMatching MONDO:0018906 follicular lymphoma skos:exactMatch Orphanet:545 Follicular lymphoma semapv:UnspecifiedMatching MONDO:0018906 follicular lymphoma skos:exactMatch SCTID:308121000 semapv:UnspecifiedMatching MONDO:0018906 follicular lymphoma skos:exactMatch UMLS:C0024301 semapv:UnspecifiedMatching MONDO:0018906 follicular lymphoma skos:exactMatch icd11.foundation:797822185 Follicular lymphoma semapv:UnspecifiedMatching MONDO:0018906 follicular lymphoma skos:exactMatch mesh:D008224 semapv:UnspecifiedMatching MONDO:0018907 craniopharyngioma skos:exactMatch DOID:3840 craniopharyngioma semapv:UnspecifiedMatching MONDO:0018907 craniopharyngioma skos:exactMatch EFO:1000209 semapv:UnspecifiedMatching MONDO:0018907 craniopharyngioma skos:exactMatch MEDGEN:41339 semapv:UnspecifiedMatching MONDO:0018907 craniopharyngioma skos:exactMatch NCIT:C2964 Craniopharyngioma semapv:UnspecifiedMatching MONDO:0018907 craniopharyngioma skos:exactMatch Orphanet:54595 Craniopharyngioma semapv:UnspecifiedMatching MONDO:0018907 craniopharyngioma skos:exactMatch SCTID:189179009 semapv:UnspecifiedMatching MONDO:0018907 craniopharyngioma skos:exactMatch UMLS:C0010276 semapv:UnspecifiedMatching MONDO:0018907 craniopharyngioma skos:exactMatch mesh:D003397 semapv:UnspecifiedMatching MONDO:0018908 non-Hodgkin lymphoma skos:exactMatch DOID:0060060 non-Hodgkin lymphoma semapv:UnspecifiedMatching MONDO:0018908 non-Hodgkin lymphoma skos:exactMatch EFO:0005952 semapv:UnspecifiedMatching MONDO:0018908 non-Hodgkin lymphoma skos:exactMatch MEDGEN:6160 semapv:UnspecifiedMatching MONDO:0018908 non-Hodgkin lymphoma skos:exactMatch NCIT:C3211 Non-Hodgkin Lymphoma semapv:UnspecifiedMatching MONDO:0018908 non-Hodgkin lymphoma skos:exactMatch Orphanet:547 Non-Hodgkin lymphoma semapv:UnspecifiedMatching MONDO:0018908 non-Hodgkin lymphoma skos:exactMatch UMLS:C0024305 semapv:UnspecifiedMatching MONDO:0018908 non-Hodgkin lymphoma skos:exactMatch mesh:D008228 semapv:UnspecifiedMatching MONDO:0018910 oculocutaneous albinism skos:exactMatch DOID:0050632 oculocutaneous albinism semapv:UnspecifiedMatching MONDO:0018910 oculocutaneous albinism skos:exactMatch ICD10CM:E70.32 Oculocutaneous albinism semapv:UnspecifiedMatching MONDO:0018910 oculocutaneous albinism skos:exactMatch MEDGEN:36250 semapv:UnspecifiedMatching MONDO:0018910 oculocutaneous albinism skos:exactMatch NCIT:C84941 Oculocutaneous Albinism semapv:UnspecifiedMatching MONDO:0018910 oculocutaneous albinism skos:exactMatch OMIMPS:203100 Oculocutaneous albinism semapv:UnspecifiedMatching MONDO:0018910 oculocutaneous albinism skos:exactMatch Orphanet:55 Oculocutaneous albinism semapv:UnspecifiedMatching MONDO:0018910 oculocutaneous albinism skos:exactMatch SCTID:63844009 semapv:UnspecifiedMatching MONDO:0018910 oculocutaneous albinism skos:exactMatch UMLS:C0078918 semapv:UnspecifiedMatching MONDO:0018910 oculocutaneous albinism skos:exactMatch icd11.foundation:1189424097 Oculocutaneous albinism semapv:UnspecifiedMatching MONDO:0018910 oculocutaneous albinism skos:exactMatch mesh:D016115 semapv:UnspecifiedMatching MONDO:0018911 maturity-onset diabetes of the young skos:exactMatch DOID:0050524 maturity-onset diabetes of the young semapv:UnspecifiedMatching MONDO:0018911 maturity-onset diabetes of the young skos:exactMatch MEDGEN:87433 semapv:UnspecifiedMatching MONDO:0018911 maturity-onset diabetes of the young skos:exactMatch NCIT:C114769 Maturity-Onset Diabetes of the Young semapv:UnspecifiedMatching MONDO:0018911 maturity-onset diabetes of the young skos:exactMatch OMIMPS:125850 Maturity-onset diabetes of the young semapv:UnspecifiedMatching MONDO:0018911 maturity-onset diabetes of the young skos:exactMatch Orphanet:552 MODY semapv:UnspecifiedMatching MONDO:0018911 maturity-onset diabetes of the young skos:exactMatch SCTID:609561005 semapv:UnspecifiedMatching MONDO:0018911 maturity-onset diabetes of the young skos:exactMatch UMLS:C0342276 semapv:UnspecifiedMatching MONDO:0018911 maturity-onset diabetes of the young skos:exactMatch mesh:C562772 semapv:UnspecifiedMatching MONDO:0018912 Cushing syndrome skos:exactMatch EFO:0003099 semapv:UnspecifiedMatching MONDO:0018912 Cushing syndrome skos:exactMatch ICD10CM:E24 Cushing's syndrome semapv:UnspecifiedMatching MONDO:0018912 Cushing syndrome skos:exactMatch ICD10WHO:E24 Cushing syndrome semapv:UnspecifiedMatching MONDO:0018912 Cushing syndrome skos:exactMatch MEDGEN:3681 semapv:UnspecifiedMatching MONDO:0018912 Cushing syndrome skos:exactMatch NCIT:C2969 Cushing Syndrome semapv:UnspecifiedMatching MONDO:0018912 Cushing syndrome skos:exactMatch UMLS:C0010481 semapv:UnspecifiedMatching MONDO:0018912 Cushing syndrome skos:exactMatch icd11.foundation:1654321425 Cushing syndrome semapv:UnspecifiedMatching MONDO:0018912 Cushing syndrome skos:exactMatch mesh:D003480 semapv:UnspecifiedMatching MONDO:0018913 malakoplakia skos:exactMatch EFO:1001807 semapv:UnspecifiedMatching MONDO:0018913 malakoplakia skos:exactMatch MEDGEN:44257 semapv:UnspecifiedMatching MONDO:0018913 malakoplakia skos:exactMatch NCIT:C84833 Malakoplakia semapv:UnspecifiedMatching MONDO:0018913 malakoplakia skos:exactMatch Orphanet:556 Malakoplakia semapv:UnspecifiedMatching MONDO:0018913 malakoplakia skos:exactMatch SCTID:716766007 semapv:UnspecifiedMatching MONDO:0018913 malakoplakia skos:exactMatch UMLS:C0024525 semapv:UnspecifiedMatching MONDO:0018913 malakoplakia skos:exactMatch mesh:D008287 semapv:UnspecifiedMatching MONDO:0018914 hypotrichosis simplex skos:exactMatch MEDGEN:344257 semapv:UnspecifiedMatching MONDO:0018914 hypotrichosis simplex skos:exactMatch Orphanet:55654 Hypotrichosis simplex semapv:UnspecifiedMatching MONDO:0018914 hypotrichosis simplex skos:exactMatch SCTID:723362004 semapv:UnspecifiedMatching MONDO:0018914 hypotrichosis simplex skos:exactMatch UMLS:C1854310 semapv:UnspecifiedMatching MONDO:0018914 hypotrichosis simplex skos:exactMatch mesh:C537160 semapv:UnspecifiedMatching MONDO:0018916 obsolete isolated anorectal malformation skos:exactMatch Orphanet:557 Non-syndromic anorectal malformation semapv:UnspecifiedMatching MONDO:0018918 carcinoma of gallbladder and extrahepatic biliary tract skos:exactMatch MEDGEN:1797980 semapv:UnspecifiedMatching MONDO:0018918 carcinoma of gallbladder and extrahepatic biliary tract skos:exactMatch Orphanet:56044 Carcinoma of gallbladder and extrahepatic biliary tract semapv:UnspecifiedMatching MONDO:0018918 carcinoma of gallbladder and extrahepatic biliary tract skos:exactMatch UMLS:C5566557 semapv:UnspecifiedMatching MONDO:0018919 McCune-Albright syndrome skos:exactMatch DOID:1858 McCune Albright syndrome semapv:UnspecifiedMatching MONDO:0018919 McCune-Albright syndrome skos:exactMatch MEDGEN:69164 semapv:UnspecifiedMatching MONDO:0018919 McCune-Albright syndrome skos:exactMatch NCIT:C48627 McCune-Albright Syndrome semapv:UnspecifiedMatching MONDO:0018919 McCune-Albright syndrome skos:exactMatch OMIM:174800 mccune-albright syndrome semapv:UnspecifiedMatching MONDO:0018919 McCune-Albright syndrome skos:exactMatch Orphanet:562 McCune-Albright syndrome semapv:UnspecifiedMatching MONDO:0018919 McCune-Albright syndrome skos:exactMatch SCTID:726029005 semapv:UnspecifiedMatching MONDO:0018919 McCune-Albright syndrome skos:exactMatch UMLS:C0242292 semapv:UnspecifiedMatching MONDO:0018919 McCune-Albright syndrome skos:exactMatch icd11.foundation:132749439 McCune-Albright syndrome semapv:UnspecifiedMatching MONDO:0018920 peripartum cardiomyopathy skos:exactMatch DOID:9997 peripartum cardiomyopathy semapv:UnspecifiedMatching MONDO:0018920 peripartum cardiomyopathy skos:exactMatch EFO:0002628 semapv:UnspecifiedMatching MONDO:0018920 peripartum cardiomyopathy skos:exactMatch ICD10CM:O90.3 Peripartum cardiomyopathy semapv:UnspecifiedMatching MONDO:0018920 peripartum cardiomyopathy skos:exactMatch MEDGEN:163756 semapv:UnspecifiedMatching MONDO:0018920 peripartum cardiomyopathy skos:exactMatch NCIT:C171602 Peripartum Cardiomyopathy semapv:UnspecifiedMatching MONDO:0018920 peripartum cardiomyopathy skos:exactMatch Orphanet:563 Peripartum cardiomyopathy semapv:UnspecifiedMatching MONDO:0018920 peripartum cardiomyopathy skos:exactMatch SCTID:62377009 semapv:UnspecifiedMatching MONDO:0018920 peripartum cardiomyopathy skos:exactMatch UMLS:C0877208 semapv:UnspecifiedMatching MONDO:0018920 peripartum cardiomyopathy skos:exactMatch icd11.foundation:1218807936 Cardiomyopathy in the puerperium semapv:UnspecifiedMatching MONDO:0018921 Meckel syndrome skos:exactMatch DOID:0050778 Meckel syndrome semapv:UnspecifiedMatching MONDO:0018921 Meckel syndrome skos:exactMatch MEDGEN:120513 semapv:UnspecifiedMatching MONDO:0018921 Meckel syndrome skos:exactMatch NCIT:C98978 Meckel-Gruber Syndrome semapv:UnspecifiedMatching MONDO:0018921 Meckel syndrome skos:exactMatch OMIMPS:249000 Meckel syndrome semapv:UnspecifiedMatching MONDO:0018921 Meckel syndrome skos:exactMatch Orphanet:564 Meckel syndrome semapv:UnspecifiedMatching MONDO:0018921 Meckel syndrome skos:exactMatch SCTID:29076005 semapv:UnspecifiedMatching MONDO:0018921 Meckel syndrome skos:exactMatch UMLS:C0265215 semapv:UnspecifiedMatching MONDO:0018921 Meckel syndrome skos:exactMatch icd11.foundation:695796893 Meckel-Gruber syndrome semapv:UnspecifiedMatching MONDO:0018922 cold agglutinin disease skos:exactMatch ICD10CM:D59.12 Cold autoimmune hemolytic anemia semapv:UnspecifiedMatching MONDO:0018922 cold agglutinin disease skos:exactMatch MEDGEN:688249 semapv:UnspecifiedMatching MONDO:0018922 cold agglutinin disease skos:exactMatch Orphanet:56425 Cold agglutinin disease semapv:UnspecifiedMatching MONDO:0018922 cold agglutinin disease skos:exactMatch SCTID:127055007 semapv:UnspecifiedMatching MONDO:0018922 cold agglutinin disease skos:exactMatch UMLS:C1264008 semapv:UnspecifiedMatching MONDO:0018923 22q11.2 deletion syndrome skos:exactMatch Orphanet:567 22q11.2 deletion syndrome semapv:UnspecifiedMatching MONDO:0018923 22q11.2 deletion syndrome skos:exactMatch icd11.foundation:1868156761 CATCH 22 phenotype semapv:UnspecifiedMatching MONDO:0018924 microphthalmia, Lenz type skos:exactMatch Orphanet:568 Microphthalmia, Lenz type semapv:UnspecifiedMatching MONDO:0018924 microphthalmia, Lenz type skos:exactMatch icd11.foundation:678242327 Microphthalmia, Lenz type semapv:UnspecifiedMatching MONDO:0018925 familial or sporadic hemiplegic migraine skos:exactMatch ICD10CM:G43.4 Hemiplegic migraine semapv:UnspecifiedMatching MONDO:0018925 familial or sporadic hemiplegic migraine skos:exactMatch MEDGEN:78740 semapv:UnspecifiedMatching MONDO:0018925 familial or sporadic hemiplegic migraine skos:exactMatch Orphanet:569 Familial or sporadic hemiplegic migraine semapv:UnspecifiedMatching MONDO:0018925 familial or sporadic hemiplegic migraine skos:exactMatch SCTID:59292006 semapv:UnspecifiedMatching MONDO:0018925 familial or sporadic hemiplegic migraine skos:exactMatch UMLS:C0270862 semapv:UnspecifiedMatching MONDO:0018925 familial or sporadic hemiplegic migraine skos:exactMatch icd11.foundation:1957063016 Hemiplegic migraine semapv:UnspecifiedMatching MONDO:0018926 human prion disease skos:exactMatch Orphanet:56970 Human prion disease semapv:UnspecifiedMatching MONDO:0018927 SUNCT syndrome skos:exactMatch MEDGEN:224724 semapv:UnspecifiedMatching MONDO:0018927 SUNCT syndrome skos:exactMatch NCIT:C85174 SUNCT Syndrome semapv:UnspecifiedMatching MONDO:0018927 SUNCT syndrome skos:exactMatch Orphanet:57145 SUNCT syndrome semapv:UnspecifiedMatching MONDO:0018927 SUNCT syndrome skos:exactMatch SCTID:725058003 semapv:UnspecifiedMatching MONDO:0018927 SUNCT syndrome skos:exactMatch UMLS:C1262087 semapv:UnspecifiedMatching MONDO:0018927 SUNCT syndrome skos:exactMatch mesh:D050798 semapv:UnspecifiedMatching MONDO:0018928 obsolete rare hepatic disease skos:exactMatch Orphanet:57146 Rare hepatic disease semapv:UnspecifiedMatching MONDO:0018929 medial condensing osteitis of the clavicle skos:exactMatch MEDGEN:1710994 semapv:UnspecifiedMatching MONDO:0018929 medial condensing osteitis of the clavicle skos:exactMatch Orphanet:57196 Medial condensing osteitis of the clavicle semapv:UnspecifiedMatching MONDO:0018929 medial condensing osteitis of the clavicle skos:exactMatch UMLS:C5396729 semapv:UnspecifiedMatching MONDO:0018930 monosomy 21 skos:exactMatch MEDGEN:162883 semapv:UnspecifiedMatching MONDO:0018930 monosomy 21 skos:exactMatch Orphanet:574 21q deletion syndrome semapv:UnspecifiedMatching MONDO:0018930 monosomy 21 skos:exactMatch UMLS:C0795875 semapv:UnspecifiedMatching MONDO:0018930 monosomy 21 skos:exactMatch mesh:C537108 semapv:UnspecifiedMatching MONDO:0018931 mucolipidosis type III, alpha/beta skos:exactMatch DOID:0080071 mucolipidosis III alpha/beta semapv:UnspecifiedMatching MONDO:0018931 mucolipidosis type III, alpha/beta skos:exactMatch MEDGEN:10988 semapv:UnspecifiedMatching MONDO:0018931 mucolipidosis type III, alpha/beta skos:exactMatch OMIM:252600 mucolipidosis 3 alpha/beta semapv:UnspecifiedMatching MONDO:0018931 mucolipidosis type III, alpha/beta skos:exactMatch Orphanet:423461 Mucolipidosis type III alpha/beta semapv:UnspecifiedMatching MONDO:0018931 mucolipidosis type III, alpha/beta skos:exactMatch Orphanet:577 Mucolipidosis type III semapv:UnspecifiedMatching MONDO:0018931 mucolipidosis type III, alpha/beta skos:exactMatch SCTID:65764006 semapv:UnspecifiedMatching MONDO:0018931 mucolipidosis type III, alpha/beta skos:exactMatch UMLS:C0033788 semapv:UnspecifiedMatching MONDO:0018932 cirrhotic cardiomyopathy skos:exactMatch MEDGEN:1391593 semapv:UnspecifiedMatching MONDO:0018932 cirrhotic cardiomyopathy skos:exactMatch SCTID:725416005 semapv:UnspecifiedMatching MONDO:0018932 cirrhotic cardiomyopathy skos:exactMatch UMLS:C4511053 semapv:UnspecifiedMatching MONDO:0018932 cirrhotic cardiomyopathy skos:exactMatch icd11.foundation:1268082489 Cirrhotic cardiomyopathy semapv:UnspecifiedMatching MONDO:0018933 Mazabraud syndrome skos:exactMatch MEDGEN:784403 semapv:UnspecifiedMatching MONDO:0018933 Mazabraud syndrome skos:exactMatch Orphanet:57782 Mazabraud syndrome semapv:UnspecifiedMatching MONDO:0018933 Mazabraud syndrome skos:exactMatch SCTID:699251001 semapv:UnspecifiedMatching MONDO:0018933 Mazabraud syndrome skos:exactMatch UMLS:C3697137 semapv:UnspecifiedMatching MONDO:0018933 Mazabraud syndrome skos:exactMatch icd11.foundation:1153435718 Mazabraud syndrome semapv:UnspecifiedMatching MONDO:0018935 hairy cell leukemia skos:exactMatch DOID:285 hairy cell leukemia semapv:UnspecifiedMatching MONDO:0018935 hairy cell leukemia skos:exactMatch EFO:1000956 semapv:UnspecifiedMatching MONDO:0018935 hairy cell leukemia skos:exactMatch ICD10CM:C91.4 Hairy cell leukemia semapv:UnspecifiedMatching MONDO:0018935 hairy cell leukemia skos:exactMatch MEDGEN:9727 semapv:UnspecifiedMatching MONDO:0018935 hairy cell leukemia skos:exactMatch NCIT:C7402 Hairy Cell Leukemia semapv:UnspecifiedMatching MONDO:0018935 hairy cell leukemia skos:exactMatch Orphanet:58017 Classic hairy cell leukemia semapv:UnspecifiedMatching MONDO:0018935 hairy cell leukemia skos:exactMatch SCTID:118613001 semapv:UnspecifiedMatching MONDO:0018935 hairy cell leukemia skos:exactMatch UMLS:C0023443 semapv:UnspecifiedMatching MONDO:0018935 hairy cell leukemia skos:exactMatch icd11.foundation:82152208 Hairy-cell leukaemia semapv:UnspecifiedMatching MONDO:0018935 hairy cell leukemia skos:exactMatch mesh:D007943 semapv:UnspecifiedMatching MONDO:0018936 osteoblastoma skos:exactMatch DOID:0060098 osteoblastoma semapv:UnspecifiedMatching MONDO:0018936 osteoblastoma skos:exactMatch MEDGEN:18212 semapv:UnspecifiedMatching MONDO:0018936 osteoblastoma skos:exactMatch NCIT:C3294 Osteoblastoma semapv:UnspecifiedMatching MONDO:0018936 osteoblastoma skos:exactMatch Orphanet:58040 Osteoblastoma semapv:UnspecifiedMatching MONDO:0018936 osteoblastoma skos:exactMatch UMLS:C0029417 semapv:UnspecifiedMatching MONDO:0018936 osteoblastoma skos:exactMatch icd11.foundation:1948326341 Osteoblastoma semapv:UnspecifiedMatching MONDO:0018936 osteoblastoma skos:exactMatch mesh:D018215 semapv:UnspecifiedMatching MONDO:0018937 mucopolysaccharidosis type 3 skos:exactMatch DOID:12801 mucopolysaccharidosis III semapv:UnspecifiedMatching MONDO:0018937 mucopolysaccharidosis type 3 skos:exactMatch MEDGEN:6452 semapv:UnspecifiedMatching MONDO:0018937 mucopolysaccharidosis type 3 skos:exactMatch NCIT:C61262 Sanfilippo Syndrome semapv:UnspecifiedMatching MONDO:0018937 mucopolysaccharidosis type 3 skos:exactMatch Orphanet:581 Mucopolysaccharidosis type 3 semapv:UnspecifiedMatching MONDO:0018937 mucopolysaccharidosis type 3 skos:exactMatch SCTID:88393000 semapv:UnspecifiedMatching MONDO:0018937 mucopolysaccharidosis type 3 skos:exactMatch UMLS:C0026706 semapv:UnspecifiedMatching MONDO:0018937 mucopolysaccharidosis type 3 skos:exactMatch icd11.foundation:1477250013 Mucopolysaccharidosis type 3 semapv:UnspecifiedMatching MONDO:0018938 mucopolysaccharidosis type 4 skos:exactMatch DOID:12804 mucopolysaccharidosis IV semapv:UnspecifiedMatching MONDO:0018938 mucopolysaccharidosis type 4 skos:exactMatch MEDGEN:44513 semapv:UnspecifiedMatching MONDO:0018938 mucopolysaccharidosis type 4 skos:exactMatch NCIT:C61263 Morquio Syndrome semapv:UnspecifiedMatching MONDO:0018938 mucopolysaccharidosis type 4 skos:exactMatch Orphanet:582 Mucopolysaccharidosis type 4 semapv:UnspecifiedMatching MONDO:0018938 mucopolysaccharidosis type 4 skos:exactMatch SCTID:378007 semapv:UnspecifiedMatching MONDO:0018938 mucopolysaccharidosis type 4 skos:exactMatch UMLS:C0026707 semapv:UnspecifiedMatching MONDO:0018938 mucopolysaccharidosis type 4 skos:exactMatch icd11.foundation:2078241550 Mucopolysaccharidosis type 4 semapv:UnspecifiedMatching MONDO:0018939 muscle-eye-brain disease skos:exactMatch MEDGEN:105341 semapv:UnspecifiedMatching MONDO:0018939 muscle-eye-brain disease skos:exactMatch Orphanet:588 Muscle-eye-brain disease semapv:UnspecifiedMatching MONDO:0018939 muscle-eye-brain disease skos:exactMatch SCTID:277950001 semapv:UnspecifiedMatching MONDO:0018939 muscle-eye-brain disease skos:exactMatch UMLS:C0457133 semapv:UnspecifiedMatching MONDO:0018940 congenital myasthenic syndrome skos:exactMatch DOID:3635 congenital myasthenic syndrome semapv:UnspecifiedMatching MONDO:0018940 congenital myasthenic syndrome skos:exactMatch MEDGEN:155650 semapv:UnspecifiedMatching MONDO:0018940 congenital myasthenic syndrome skos:exactMatch NCIT:C84647 Congenital Myasthenic Syndrome semapv:UnspecifiedMatching MONDO:0018940 congenital myasthenic syndrome skos:exactMatch OMIMPS:601462 Myasthenic syndrome, congenital semapv:UnspecifiedMatching MONDO:0018940 congenital myasthenic syndrome skos:exactMatch Orphanet:590 Congenital myasthenic syndrome semapv:UnspecifiedMatching MONDO:0018940 congenital myasthenic syndrome skos:exactMatch SCTID:230672006 semapv:UnspecifiedMatching MONDO:0018940 congenital myasthenic syndrome skos:exactMatch UMLS:C0751882 semapv:UnspecifiedMatching MONDO:0018940 congenital myasthenic syndrome skos:exactMatch icd11.foundation:1515367530 Congenital myasthenic syndromes semapv:UnspecifiedMatching MONDO:0018940 congenital myasthenic syndrome skos:exactMatch mesh:D020294 semapv:UnspecifiedMatching MONDO:0018941 furuncular myiasis skos:exactMatch MEDGEN:419893 semapv:UnspecifiedMatching MONDO:0018941 furuncular myiasis skos:exactMatch Orphanet:591 Furuncular myiasis semapv:UnspecifiedMatching MONDO:0018941 furuncular myiasis skos:exactMatch UMLS:C2931766 semapv:UnspecifiedMatching MONDO:0018941 furuncular myiasis skos:exactMatch icd11.foundation:1861376017 Furuncular myiasis semapv:UnspecifiedMatching MONDO:0018941 furuncular myiasis skos:exactMatch mesh:C538194 semapv:UnspecifiedMatching MONDO:0018942 macrophagic myofasciitis skos:exactMatch MEDGEN:419858 semapv:UnspecifiedMatching MONDO:0018942 macrophagic myofasciitis skos:exactMatch Orphanet:592 Macrophagic myofasciitis semapv:UnspecifiedMatching MONDO:0018942 macrophagic myofasciitis skos:exactMatch SCTID:718175009 semapv:UnspecifiedMatching MONDO:0018942 macrophagic myofasciitis skos:exactMatch UMLS:C2931639 semapv:UnspecifiedMatching MONDO:0018942 macrophagic myofasciitis skos:exactMatch mesh:C537829 semapv:UnspecifiedMatching MONDO:0018943 myofibrillar myopathy skos:exactMatch DOID:0080307 myofibrillar myopathy semapv:UnspecifiedMatching MONDO:0018943 myofibrillar myopathy skos:exactMatch MEDGEN:395532 semapv:UnspecifiedMatching MONDO:0018943 myofibrillar myopathy skos:exactMatch NCIT:C83009 Myofibrillar Myopathy semapv:UnspecifiedMatching MONDO:0018943 myofibrillar myopathy skos:exactMatch OMIMPS:601419 Myopathy, myofibrillar semapv:UnspecifiedMatching MONDO:0018943 myofibrillar myopathy skos:exactMatch Orphanet:593 Myofibrillar myopathy semapv:UnspecifiedMatching MONDO:0018943 myofibrillar myopathy skos:exactMatch SCTID:699269005 semapv:UnspecifiedMatching MONDO:0018943 myofibrillar myopathy skos:exactMatch UMLS:C2678065 semapv:UnspecifiedMatching MONDO:0018943 myofibrillar myopathy skos:exactMatch icd11.foundation:125656853 Myofibrillar myopathy semapv:UnspecifiedMatching MONDO:0018943 myofibrillar myopathy skos:exactMatch mesh:C580316 semapv:UnspecifiedMatching MONDO:0018944 gestational trophoblastic neoplasm skos:exactMatch DOID:3590 gestational trophoblastic neoplasm semapv:UnspecifiedMatching MONDO:0018944 gestational trophoblastic neoplasm skos:exactMatch MEDGEN:210107 semapv:UnspecifiedMatching MONDO:0018944 gestational trophoblastic neoplasm skos:exactMatch NCIT:C4699 Gestational Trophoblastic Tumor semapv:UnspecifiedMatching MONDO:0018944 gestational trophoblastic neoplasm skos:exactMatch Orphanet:59305 Gestational trophoblastic neoplasm semapv:UnspecifiedMatching MONDO:0018944 gestational trophoblastic neoplasm skos:exactMatch SCTID:609519004 semapv:UnspecifiedMatching MONDO:0018944 gestational trophoblastic neoplasm skos:exactMatch UMLS:C1135868 semapv:UnspecifiedMatching MONDO:0018944 gestational trophoblastic neoplasm skos:exactMatch icd11.foundation:1972855304 Malignant trophoblastic neoplasms of placenta semapv:UnspecifiedMatching MONDO:0018945 XK-related neurodegenerative disease skos:exactMatch DOID:0112107 McLeod syndrome semapv:UnspecifiedMatching MONDO:0018945 XK-related neurodegenerative disease skos:exactMatch MEDGEN:140765 semapv:UnspecifiedMatching MONDO:0018945 XK-related neurodegenerative disease skos:exactMatch OMIM:300842 mcleod syndrome semapv:UnspecifiedMatching MONDO:0018945 XK-related neurodegenerative disease skos:exactMatch Orphanet:59306 McLeod neuroacanthocytosis syndrome semapv:UnspecifiedMatching MONDO:0018945 XK-related neurodegenerative disease skos:exactMatch SCTID:234411007 semapv:UnspecifiedMatching MONDO:0018945 XK-related neurodegenerative disease skos:exactMatch UMLS:C0398568 semapv:UnspecifiedMatching MONDO:0018945 XK-related neurodegenerative disease skos:exactMatch icd11.foundation:1749275115 McLeod neuroacanthocytosis syndrome semapv:UnspecifiedMatching MONDO:0018945 XK-related neurodegenerative disease skos:exactMatch mesh:C564038 semapv:UnspecifiedMatching MONDO:0018946 rhombencephalosynapsis skos:exactMatch MEDGEN:356456 semapv:UnspecifiedMatching MONDO:0018946 rhombencephalosynapsis skos:exactMatch Orphanet:59315 Rhombencephalosynapsis semapv:UnspecifiedMatching MONDO:0018946 rhombencephalosynapsis skos:exactMatch SCTID:442300000 semapv:UnspecifiedMatching MONDO:0018946 rhombencephalosynapsis skos:exactMatch UMLS:C1866130 semapv:UnspecifiedMatching MONDO:0018946 rhombencephalosynapsis skos:exactMatch icd11.foundation:2112180041 Rhombencephalosynapsis semapv:UnspecifiedMatching MONDO:0018947 centronuclear myopathy skos:exactMatch DOID:14717 centronuclear myopathy semapv:UnspecifiedMatching MONDO:0018947 centronuclear myopathy skos:exactMatch ICD10CM:G71.22 Centronuclear myopathy semapv:UnspecifiedMatching MONDO:0018947 centronuclear myopathy skos:exactMatch MEDGEN:104495 semapv:UnspecifiedMatching MONDO:0018947 centronuclear myopathy skos:exactMatch OMIMPS:160150 Myopathy, centronuclear semapv:UnspecifiedMatching MONDO:0018947 centronuclear myopathy skos:exactMatch Orphanet:595 Centronuclear myopathy semapv:UnspecifiedMatching MONDO:0018947 centronuclear myopathy skos:exactMatch SCTID:82077006 semapv:UnspecifiedMatching MONDO:0018947 centronuclear myopathy skos:exactMatch UMLS:C0175709 semapv:UnspecifiedMatching MONDO:0018947 centronuclear myopathy skos:exactMatch icd11.foundation:742097637 Centronuclear myopathy semapv:UnspecifiedMatching MONDO:0018948 multiminicore myopathy skos:exactMatch DOID:0080991 congenital myopathy 1B semapv:UnspecifiedMatching MONDO:0018948 multiminicore myopathy skos:exactMatch MEDGEN:75731 semapv:UnspecifiedMatching MONDO:0018948 multiminicore myopathy skos:exactMatch Orphanet:598 Multiminicore myopathy semapv:UnspecifiedMatching MONDO:0018948 multiminicore myopathy skos:exactMatch SCTID:55133004 semapv:UnspecifiedMatching MONDO:0018948 multiminicore myopathy skos:exactMatch UMLS:C0270962 semapv:UnspecifiedMatching MONDO:0018949 distal myopathy skos:exactMatch DOID:11720 distal myopathy semapv:UnspecifiedMatching MONDO:0018949 distal myopathy skos:exactMatch MEDGEN:155541 semapv:UnspecifiedMatching MONDO:0018949 distal myopathy skos:exactMatch NCIT:C84675 Distal Muscular Dystrophy semapv:UnspecifiedMatching MONDO:0018949 distal myopathy skos:exactMatch OMIMPS:160500 Myopathy, distal semapv:UnspecifiedMatching MONDO:0018949 distal myopathy skos:exactMatch Orphanet:599 Distal myopathy semapv:UnspecifiedMatching MONDO:0018949 distal myopathy skos:exactMatch SCTID:58795000 semapv:UnspecifiedMatching MONDO:0018949 distal myopathy skos:exactMatch UMLS:C0751336 semapv:UnspecifiedMatching MONDO:0018949 distal myopathy skos:exactMatch icd11.foundation:596283352 Distal myopathies semapv:UnspecifiedMatching MONDO:0018950 3-methylcrotonyl-CoA carboxylase deficiency skos:exactMatch DOID:0050710 3-methylcrotonyl-CoA carboxylase deficiency semapv:UnspecifiedMatching MONDO:0018950 3-methylcrotonyl-CoA carboxylase deficiency skos:exactMatch MEDGEN:1633312 semapv:UnspecifiedMatching MONDO:0018950 3-methylcrotonyl-CoA carboxylase deficiency skos:exactMatch NCIT:C98674 Methylcrotonyl-CoA Carboxylase Deficiency semapv:UnspecifiedMatching MONDO:0018950 3-methylcrotonyl-CoA carboxylase deficiency skos:exactMatch OMIMPS:210200 Methylcrotonylglycinuria semapv:UnspecifiedMatching MONDO:0018950 3-methylcrotonyl-CoA carboxylase deficiency skos:exactMatch Orphanet:6 3-methylcrotonyl-CoA carboxylase deficiency semapv:UnspecifiedMatching MONDO:0018950 3-methylcrotonyl-CoA carboxylase deficiency skos:exactMatch SCTID:13144005 semapv:UnspecifiedMatching MONDO:0018950 3-methylcrotonyl-CoA carboxylase deficiency skos:exactMatch UMLS:C4551505 semapv:UnspecifiedMatching MONDO:0018951 distal myopathy with vocal cord weakness skos:exactMatch MEDGEN:342950 semapv:UnspecifiedMatching MONDO:0018951 distal myopathy with vocal cord weakness skos:exactMatch Orphanet:600 Vocal cord and pharyngeal distal myopathy semapv:UnspecifiedMatching MONDO:0018951 distal myopathy with vocal cord weakness skos:exactMatch UMLS:C1853723 semapv:UnspecifiedMatching MONDO:0018951 distal myopathy with vocal cord weakness skos:exactMatch icd11.foundation:1133125258 Distal myopathy with vocal cord weakness semapv:UnspecifiedMatching MONDO:0018952 argyria skos:exactMatch Orphanet:60014 Argyria semapv:UnspecifiedMatching MONDO:0018952 argyria skos:exactMatch icd11.foundation:609692407 Argyria semapv:UnspecifiedMatching MONDO:0018952 argyria skos:exactMatch mesh:D001129 semapv:UnspecifiedMatching MONDO:0018953 parietal foramina skos:exactMatch DOID:0060285 parietal foramina semapv:UnspecifiedMatching MONDO:0018953 parietal foramina skos:exactMatch OMIMPS:168500 Parietal foramina semapv:UnspecifiedMatching MONDO:0018953 parietal foramina skos:exactMatch Orphanet:60015 Enlarged parietal foramina semapv:UnspecifiedMatching MONDO:0018953 parietal foramina skos:exactMatch SCTID:718099006 semapv:UnspecifiedMatching MONDO:0018953 parietal foramina skos:exactMatch icd11.foundation:905361904 Parietal foramina semapv:UnspecifiedMatching MONDO:0018953 parietal foramina skos:exactMatch mesh:C566826 semapv:UnspecifiedMatching MONDO:0018954 Loeys-Dietz syndrome skos:exactMatch DOID:0050466 Loeys-Dietz syndrome semapv:UnspecifiedMatching MONDO:0018954 Loeys-Dietz syndrome skos:exactMatch MEDGEN:395827 semapv:UnspecifiedMatching MONDO:0018954 Loeys-Dietz syndrome skos:exactMatch NCIT:C75006 Loeys-Dietz Syndrome semapv:UnspecifiedMatching MONDO:0018954 Loeys-Dietz syndrome skos:exactMatch OMIMPS:609192 Loeys-Dietz syndrome semapv:UnspecifiedMatching MONDO:0018954 Loeys-Dietz syndrome skos:exactMatch Orphanet:60030 Loeys-Dietz syndrome semapv:UnspecifiedMatching MONDO:0018954 Loeys-Dietz syndrome skos:exactMatch SCTID:446263001 semapv:UnspecifiedMatching MONDO:0018954 Loeys-Dietz syndrome skos:exactMatch UMLS:C2697932 semapv:UnspecifiedMatching MONDO:0018954 Loeys-Dietz syndrome skos:exactMatch mesh:D055947 semapv:UnspecifiedMatching MONDO:0018955 recurrent respiratory papillomatosis skos:exactMatch MEDGEN:216998 semapv:UnspecifiedMatching MONDO:0018955 recurrent respiratory papillomatosis skos:exactMatch NCIT:C128637 Recurrent Respiratory Papillomatosis semapv:UnspecifiedMatching MONDO:0018955 recurrent respiratory papillomatosis skos:exactMatch Orphanet:60032 Recurrent respiratory papillomatosis semapv:UnspecifiedMatching MONDO:0018955 recurrent respiratory papillomatosis skos:exactMatch SCTID:472827002 semapv:UnspecifiedMatching MONDO:0018955 recurrent respiratory papillomatosis skos:exactMatch UMLS:C1168198 semapv:UnspecifiedMatching MONDO:0018955 recurrent respiratory papillomatosis skos:exactMatch icd11.foundation:151039887 Recurrent respiratory papillomatosis semapv:UnspecifiedMatching MONDO:0018955 recurrent respiratory papillomatosis skos:exactMatch mesh:C535297 semapv:UnspecifiedMatching MONDO:0018956 idiopathic bronchiectasis skos:exactMatch MEDGEN:573462 semapv:UnspecifiedMatching MONDO:0018956 idiopathic bronchiectasis skos:exactMatch Orphanet:60033 Idiopathic bronchiectasis semapv:UnspecifiedMatching MONDO:0018956 idiopathic bronchiectasis skos:exactMatch SCTID:233629001 semapv:UnspecifiedMatching MONDO:0018956 idiopathic bronchiectasis skos:exactMatch UMLS:C0339985 semapv:UnspecifiedMatching MONDO:0018957 pudendal neuralgia skos:exactMatch MEDGEN:372681 semapv:UnspecifiedMatching MONDO:0018957 pudendal neuralgia skos:exactMatch Orphanet:60039 Pudendal nerve entrapment syndrome semapv:UnspecifiedMatching MONDO:0018957 pudendal neuralgia skos:exactMatch SCTID:427972000 semapv:UnspecifiedMatching MONDO:0018957 pudendal neuralgia skos:exactMatch UMLS:C1997249 semapv:UnspecifiedMatching MONDO:0018957 pudendal neuralgia skos:exactMatch icd11.foundation:1492963618 Pudendal neuralgia semapv:UnspecifiedMatching MONDO:0018957 pudendal neuralgia skos:exactMatch mesh:D060545 semapv:UnspecifiedMatching MONDO:0018958 nemaline myopathy skos:exactMatch DOID:3191 nemaline myopathy semapv:UnspecifiedMatching MONDO:0018958 nemaline myopathy skos:exactMatch ICD10CM:G71.21 Nemaline myopathy semapv:UnspecifiedMatching MONDO:0018958 nemaline myopathy skos:exactMatch MEDGEN:61528 semapv:UnspecifiedMatching MONDO:0018958 nemaline myopathy skos:exactMatch OMIMPS:256030 Nemaline myopathy semapv:UnspecifiedMatching MONDO:0018958 nemaline myopathy skos:exactMatch Orphanet:607 Nemaline myopathy semapv:UnspecifiedMatching MONDO:0018958 nemaline myopathy skos:exactMatch SCTID:75072002 semapv:UnspecifiedMatching MONDO:0018958 nemaline myopathy skos:exactMatch UMLS:C0206157 semapv:UnspecifiedMatching MONDO:0018958 nemaline myopathy skos:exactMatch icd11.foundation:1996502540 Nemaline myopathy semapv:UnspecifiedMatching MONDO:0018958 nemaline myopathy skos:exactMatch mesh:D017696 semapv:UnspecifiedMatching MONDO:0018959 potassium-aggravated myotonia skos:exactMatch MEDGEN:444151 semapv:UnspecifiedMatching MONDO:0018959 potassium-aggravated myotonia skos:exactMatch NCIT:C122788 Potassium Aggravated Myotonia semapv:UnspecifiedMatching MONDO:0018959 potassium-aggravated myotonia skos:exactMatch OMIM:608390 myotonia, potassium-aggravated semapv:UnspecifiedMatching MONDO:0018959 potassium-aggravated myotonia skos:exactMatch Orphanet:612 Potassium-aggravated myotonia semapv:UnspecifiedMatching MONDO:0018959 potassium-aggravated myotonia skos:exactMatch SCTID:702355008 semapv:UnspecifiedMatching MONDO:0018959 potassium-aggravated myotonia skos:exactMatch UMLS:C2931826 semapv:UnspecifiedMatching MONDO:0018959 potassium-aggravated myotonia skos:exactMatch icd11.foundation:1707250468 Potassium-aggravated myotonia semapv:UnspecifiedMatching MONDO:0018959 potassium-aggravated myotonia skos:exactMatch mesh:C538353 semapv:UnspecifiedMatching MONDO:0018960 congenital primary megaureter skos:exactMatch MEDGEN:903364 semapv:UnspecifiedMatching MONDO:0018960 congenital primary megaureter skos:exactMatch Orphanet:617 Congenital primary megaureter semapv:UnspecifiedMatching MONDO:0018960 congenital primary megaureter skos:exactMatch SCTID:717459000 semapv:UnspecifiedMatching MONDO:0018960 congenital primary megaureter skos:exactMatch UMLS:C4273898 semapv:UnspecifiedMatching MONDO:0018960 congenital primary megaureter skos:exactMatch icd11.foundation:566805920 Congenital primary megaureter semapv:UnspecifiedMatching MONDO:0018961 familial melanoma skos:exactMatch DOID:6846 familial melanoma semapv:UnspecifiedMatching MONDO:0018961 familial melanoma skos:exactMatch MEDGEN:268851 semapv:UnspecifiedMatching MONDO:0018961 familial melanoma skos:exactMatch NCIT:C8498 Hereditary Melanoma semapv:UnspecifiedMatching MONDO:0018961 familial melanoma skos:exactMatch Orphanet:618 Familial melanoma semapv:UnspecifiedMatching MONDO:0018961 familial melanoma skos:exactMatch UMLS:C1512419 semapv:UnspecifiedMatching MONDO:0018962 common mesentery skos:exactMatch MEDGEN:539782 semapv:UnspecifiedMatching MONDO:0018962 common mesentery skos:exactMatch SCTID:52159006 semapv:UnspecifiedMatching MONDO:0018962 common mesentery skos:exactMatch UMLS:C0266235 semapv:UnspecifiedMatching MONDO:0018962 common mesentery skos:exactMatch icd11.foundation:2101515260 Common mesentery semapv:UnspecifiedMatching MONDO:0018963 hereditary methemoglobinemia skos:exactMatch ICD10CM:D74.0 Congenital methemoglobinemia semapv:UnspecifiedMatching MONDO:0018963 hereditary methemoglobinemia skos:exactMatch MEDGEN:473013 semapv:UnspecifiedMatching MONDO:0018963 hereditary methemoglobinemia skos:exactMatch NCIT:C98898 Congenital Methemoglobinemia semapv:UnspecifiedMatching MONDO:0018963 hereditary methemoglobinemia skos:exactMatch Orphanet:621 Hereditary methemoglobinemia semapv:UnspecifiedMatching MONDO:0018963 hereditary methemoglobinemia skos:exactMatch SCTID:267550008 semapv:UnspecifiedMatching MONDO:0018963 hereditary methemoglobinemia skos:exactMatch UMLS:C0272087 semapv:UnspecifiedMatching MONDO:0018963 hereditary methemoglobinemia skos:exactMatch icd11.foundation:586921197 Hereditary methaemoglobinaemia semapv:UnspecifiedMatching MONDO:0018963 hereditary methemoglobinemia skos:exactMatch mesh:C580280 semapv:UnspecifiedMatching MONDO:0018964 homocystinuria without methylmalonic aciduria skos:exactMatch MEDGEN:929148 semapv:UnspecifiedMatching MONDO:0018964 homocystinuria without methylmalonic aciduria skos:exactMatch OMIMPS:236270 Homocystinuria-megaloblastic anemia semapv:UnspecifiedMatching MONDO:0018964 homocystinuria without methylmalonic aciduria skos:exactMatch Orphanet:622 Homocystinuria without methylmalonic aciduria semapv:UnspecifiedMatching MONDO:0018964 homocystinuria without methylmalonic aciduria skos:exactMatch SCTID:721225009 semapv:UnspecifiedMatching MONDO:0018964 homocystinuria without methylmalonic aciduria skos:exactMatch UMLS:C4303479 semapv:UnspecifiedMatching MONDO:0018964 homocystinuria without methylmalonic aciduria skos:exactMatch icd11.foundation:726186034 Homocystinuria without methylmalonic aciduria semapv:UnspecifiedMatching MONDO:0018965 Alport syndrome skos:exactMatch DOID:10983 Alport syndrome semapv:UnspecifiedMatching MONDO:0018965 Alport syndrome skos:exactMatch ICD10CM:Q87.81 Alport syndrome semapv:UnspecifiedMatching MONDO:0018965 Alport syndrome skos:exactMatch MEDGEN:339209 semapv:UnspecifiedMatching MONDO:0018965 Alport syndrome skos:exactMatch NCIT:C34842 Alport Syndrome semapv:UnspecifiedMatching MONDO:0018965 Alport syndrome skos:exactMatch OMIMPS:301050 Alport syndrome semapv:UnspecifiedMatching MONDO:0018965 Alport syndrome skos:exactMatch Orphanet:63 Alport syndrome semapv:UnspecifiedMatching MONDO:0018965 Alport syndrome skos:exactMatch UMLS:C1567741 semapv:UnspecifiedMatching MONDO:0018965 Alport syndrome skos:exactMatch icd11.foundation:1170919425 Alport syndrome semapv:UnspecifiedMatching MONDO:0018967 short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia skos:exactMatch Orphanet:632 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia semapv:UnspecifiedMatching MONDO:0018968 iniencephaly skos:exactMatch ICD10CM:Q00.2 Iniencephaly semapv:UnspecifiedMatching MONDO:0018968 iniencephaly skos:exactMatch MEDGEN:57756 semapv:UnspecifiedMatching MONDO:0018968 iniencephaly skos:exactMatch NCIT:C124549 Iniencephaly semapv:UnspecifiedMatching MONDO:0018968 iniencephaly skos:exactMatch Orphanet:63259 Iniencephaly semapv:UnspecifiedMatching MONDO:0018968 iniencephaly skos:exactMatch SCTID:2438005 semapv:UnspecifiedMatching MONDO:0018968 iniencephaly skos:exactMatch UMLS:C0152234 semapv:UnspecifiedMatching MONDO:0018968 iniencephaly skos:exactMatch icd11.foundation:1558931335 Iniencephaly semapv:UnspecifiedMatching MONDO:0018969 craniorachischisis skos:exactMatch ICD10CM:Q00.1 Craniorachischisis semapv:UnspecifiedMatching MONDO:0018969 craniorachischisis skos:exactMatch MEDGEN:56290 semapv:UnspecifiedMatching MONDO:0018969 craniorachischisis skos:exactMatch NCIT:C98907 Craniorachischisis semapv:UnspecifiedMatching MONDO:0018969 craniorachischisis skos:exactMatch Orphanet:63260 Craniorachischisis semapv:UnspecifiedMatching MONDO:0018969 craniorachischisis skos:exactMatch SCTID:32219008 semapv:UnspecifiedMatching MONDO:0018969 craniorachischisis skos:exactMatch UMLS:C0152426 semapv:UnspecifiedMatching MONDO:0018969 craniorachischisis skos:exactMatch icd11.foundation:675690362 Craniorachischisis semapv:UnspecifiedMatching MONDO:0018971 isolated oxycephaly skos:exactMatch MEDGEN:1726910 semapv:UnspecifiedMatching MONDO:0018971 isolated oxycephaly skos:exactMatch SCTID:48069004 semapv:UnspecifiedMatching MONDO:0018971 isolated oxycephaly skos:exactMatch UMLS:C5399823 semapv:UnspecifiedMatching MONDO:0018972 obsolete rare epithelial tumor of stomach skos:exactMatch Orphanet:63443 Rare epithelial tumor of stomach semapv:UnspecifiedMatching MONDO:0018973 patterned dystrophy of the retinal pigment epithelium skos:exactMatch MEDGEN:357005 semapv:UnspecifiedMatching MONDO:0018973 patterned dystrophy of the retinal pigment epithelium skos:exactMatch Orphanet:63454 Pattern dystrophy semapv:UnspecifiedMatching MONDO:0018973 patterned dystrophy of the retinal pigment epithelium skos:exactMatch UMLS:C1868569 semapv:UnspecifiedMatching MONDO:0018973 patterned dystrophy of the retinal pigment epithelium skos:exactMatch mesh:C536309 semapv:UnspecifiedMatching MONDO:0018974 paraneoplastic pemphigus skos:exactMatch DOID:0080852 paraneoplastic pemphigus semapv:UnspecifiedMatching MONDO:0018974 paraneoplastic pemphigus skos:exactMatch EFO:0008602 semapv:UnspecifiedMatching MONDO:0018974 paraneoplastic pemphigus skos:exactMatch ICD10CM:L10.81 Paraneoplastic pemphigus semapv:UnspecifiedMatching MONDO:0018974 paraneoplastic pemphigus skos:exactMatch MEDGEN:798302 semapv:UnspecifiedMatching MONDO:0018974 paraneoplastic pemphigus skos:exactMatch Orphanet:63455 Paraneoplastic pemphigus semapv:UnspecifiedMatching MONDO:0018974 paraneoplastic pemphigus skos:exactMatch UMLS:C1112570 semapv:UnspecifiedMatching MONDO:0018974 paraneoplastic pemphigus skos:exactMatch icd11.foundation:104197957 Paraneoplastic pemphigus semapv:UnspecifiedMatching MONDO:0018975 neurofibromatosis type 1 skos:exactMatch DOID:0111253 neurofibromatosis 1 semapv:UnspecifiedMatching MONDO:0018975 neurofibromatosis type 1 skos:exactMatch ICD10CM:Q85.01 Neurofibromatosis, type 1 semapv:UnspecifiedMatching MONDO:0018975 neurofibromatosis type 1 skos:exactMatch MEDGEN:18013 semapv:UnspecifiedMatching MONDO:0018975 neurofibromatosis type 1 skos:exactMatch NCIT:C3273 Neurofibromatosis Type 1 semapv:UnspecifiedMatching MONDO:0018975 neurofibromatosis type 1 skos:exactMatch OMIM:162200 neurofibromatosis, type 1 semapv:UnspecifiedMatching MONDO:0018975 neurofibromatosis type 1 skos:exactMatch Orphanet:636 Neurofibromatosis type 1 semapv:UnspecifiedMatching MONDO:0018975 neurofibromatosis type 1 skos:exactMatch SCTID:92824003 semapv:UnspecifiedMatching MONDO:0018975 neurofibromatosis type 1 skos:exactMatch UMLS:C0027831 semapv:UnspecifiedMatching MONDO:0018975 neurofibromatosis type 1 skos:exactMatch icd11.foundation:337970533 Neurofibromatosis type 1 semapv:UnspecifiedMatching MONDO:0018975 neurofibromatosis type 1 skos:exactMatch mesh:D009456 semapv:UnspecifiedMatching MONDO:0018976 schisis association skos:exactMatch MEDGEN:444017 semapv:UnspecifiedMatching MONDO:0018976 schisis association skos:exactMatch Orphanet:63862 Schisis association semapv:UnspecifiedMatching MONDO:0018976 schisis association skos:exactMatch SCTID:718095000 semapv:UnspecifiedMatching MONDO:0018976 schisis association skos:exactMatch UMLS:C2931271 semapv:UnspecifiedMatching MONDO:0018976 schisis association skos:exactMatch mesh:C536633 semapv:UnspecifiedMatching MONDO:0018977 polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG skos:exactMatch MEDGEN:1434346 semapv:UnspecifiedMatching MONDO:0018977 polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG skos:exactMatch UMLS:C1736154 semapv:UnspecifiedMatching MONDO:0018978 IgG4-related mediastinitis skos:exactMatch MEDGEN:82683 semapv:UnspecifiedMatching MONDO:0018978 IgG4-related mediastinitis skos:exactMatch Orphanet:63999 IgG4-related mediastinitis semapv:UnspecifiedMatching MONDO:0018978 IgG4-related mediastinitis skos:exactMatch UMLS:C0264573 semapv:UnspecifiedMatching MONDO:0018978 IgG4-related mediastinitis skos:exactMatch icd11.foundation:123840075 Fibrosing mediastinitis semapv:UnspecifiedMatching MONDO:0018978 IgG4-related mediastinitis skos:exactMatch icd11.foundation:791747341 IgG4-related mediastinitis semapv:UnspecifiedMatching MONDO:0018978 IgG4-related mediastinitis skos:exactMatch mesh:C536136 semapv:UnspecifiedMatching MONDO:0018979 multifocal motor neuropathy skos:exactMatch ICD10CM:G61.82 Multifocal motor neuropathy semapv:UnspecifiedMatching MONDO:0018979 multifocal motor neuropathy skos:exactMatch MEDGEN:581615 semapv:UnspecifiedMatching MONDO:0018979 multifocal motor neuropathy skos:exactMatch Orphanet:641 Multifocal motor neuropathy semapv:UnspecifiedMatching MONDO:0018979 multifocal motor neuropathy skos:exactMatch SCTID:230591002 semapv:UnspecifiedMatching MONDO:0018979 multifocal motor neuropathy skos:exactMatch UMLS:C0393847 semapv:UnspecifiedMatching MONDO:0018980 acrofacial dysostosis, Kennedy-Teebi type skos:exactMatch MEDGEN:929763 semapv:UnspecifiedMatching MONDO:0018980 acrofacial dysostosis, Kennedy-Teebi type skos:exactMatch Orphanet:64542 Acrofacial dysostosis, Kennedy-Teebi type semapv:UnspecifiedMatching MONDO:0018980 acrofacial dysostosis, Kennedy-Teebi type skos:exactMatch SCTID:720427009 semapv:UnspecifiedMatching MONDO:0018980 acrofacial dysostosis, Kennedy-Teebi type skos:exactMatch UMLS:C4304094 semapv:UnspecifiedMatching MONDO:0018981 benign idiopathic neonatal seizures skos:exactMatch MEDGEN:140738 semapv:UnspecifiedMatching MONDO:0018981 benign idiopathic neonatal seizures skos:exactMatch UMLS:C0393693 semapv:UnspecifiedMatching MONDO:0018981 benign idiopathic neonatal seizures skos:exactMatch icd11.foundation:1131336245 Benign idiopathic neonatal seizures semapv:UnspecifiedMatching MONDO:0018982 Niemann-Pick disease type C skos:exactMatch ICD10CM:E75.242 Niemann-Pick disease type C semapv:UnspecifiedMatching MONDO:0018982 Niemann-Pick disease type C skos:exactMatch MEDGEN:67399 semapv:UnspecifiedMatching MONDO:0018982 Niemann-Pick disease type C skos:exactMatch Orphanet:646 Niemann-Pick disease type C semapv:UnspecifiedMatching MONDO:0018982 Niemann-Pick disease type C skos:exactMatch SCTID:66751000 semapv:UnspecifiedMatching MONDO:0018982 Niemann-Pick disease type C skos:exactMatch UMLS:C0220756 semapv:UnspecifiedMatching MONDO:0018982 Niemann-Pick disease type C skos:exactMatch icd11.foundation:812702125 Niemann-Pick disease type C semapv:UnspecifiedMatching MONDO:0018982 Niemann-Pick disease type C skos:exactMatch mesh:D052556 semapv:UnspecifiedMatching MONDO:0018983 Tolosa-Hunt syndrome skos:exactMatch DOID:1278 tolosa-hunt syndrome semapv:UnspecifiedMatching MONDO:0018983 Tolosa-Hunt syndrome skos:exactMatch MEDGEN:21197 semapv:UnspecifiedMatching MONDO:0018983 Tolosa-Hunt syndrome skos:exactMatch NCIT:C85193 Tolosa-Hunt Syndrome semapv:UnspecifiedMatching MONDO:0018983 Tolosa-Hunt syndrome skos:exactMatch Orphanet:64686 Tolosa-Hunt syndrome semapv:UnspecifiedMatching MONDO:0018983 Tolosa-Hunt syndrome skos:exactMatch SCTID:95794005 semapv:UnspecifiedMatching MONDO:0018983 Tolosa-Hunt syndrome skos:exactMatch UMLS:C0040381 semapv:UnspecifiedMatching MONDO:0018983 Tolosa-Hunt syndrome skos:exactMatch icd11.foundation:969826782 Tolosa-Hunt syndrome semapv:UnspecifiedMatching MONDO:0018983 Tolosa-Hunt syndrome skos:exactMatch mesh:D020333 semapv:UnspecifiedMatching MONDO:0018984 Oroya fever skos:exactMatch DOID:0050398 Carrion's disease semapv:UnspecifiedMatching MONDO:0018984 Oroya fever skos:exactMatch MEDGEN:45234 semapv:UnspecifiedMatching MONDO:0018984 Oroya fever skos:exactMatch NCIT:C128441 Carrión Disease semapv:UnspecifiedMatching MONDO:0018984 Oroya fever skos:exactMatch Orphanet:64692 Bartonella bacilliformis infection semapv:UnspecifiedMatching MONDO:0018984 Oroya fever skos:exactMatch Orphanet:659756 Oroya fever semapv:UnspecifiedMatching MONDO:0018984 Oroya fever skos:exactMatch SCTID:240453002 semapv:UnspecifiedMatching MONDO:0018984 Oroya fever skos:exactMatch SCTID:262461007 semapv:UnspecifiedMatching MONDO:0018984 Oroya fever skos:exactMatch UMLS:C0029307 semapv:UnspecifiedMatching MONDO:0018984 Oroya fever skos:exactMatch icd11.foundation:1031219789 Oroya fever semapv:UnspecifiedMatching MONDO:0018987 granulomatous mastitis skos:exactMatch ICD10CM:N61.2 Granulomatous mastitis semapv:UnspecifiedMatching MONDO:0018987 granulomatous mastitis skos:exactMatch MEDGEN:98343 semapv:UnspecifiedMatching MONDO:0018987 granulomatous mastitis skos:exactMatch Orphanet:64722 Granulomatous mastitis semapv:UnspecifiedMatching MONDO:0018987 granulomatous mastitis skos:exactMatch SCTID:237444008 semapv:UnspecifiedMatching MONDO:0018987 granulomatous mastitis skos:exactMatch UMLS:C0405469 semapv:UnspecifiedMatching MONDO:0018987 granulomatous mastitis skos:exactMatch mesh:D058890 semapv:UnspecifiedMatching MONDO:0018988 iridocorneal endothelial syndrome skos:exactMatch MEDGEN:242751 semapv:UnspecifiedMatching MONDO:0018988 iridocorneal endothelial syndrome skos:exactMatch NCIT:C84792 Iridocorneal Endothelial Syndrome semapv:UnspecifiedMatching MONDO:0018988 iridocorneal endothelial syndrome skos:exactMatch Orphanet:64734 Iridocorneal endothelial syndrome semapv:UnspecifiedMatching MONDO:0018988 iridocorneal endothelial syndrome skos:exactMatch SCTID:129623003 semapv:UnspecifiedMatching MONDO:0018988 iridocorneal endothelial syndrome skos:exactMatch UMLS:C1096100 semapv:UnspecifiedMatching MONDO:0018988 iridocorneal endothelial syndrome skos:exactMatch icd11.foundation:265074385 Iridocorneal endothelial syndrome semapv:UnspecifiedMatching MONDO:0018988 iridocorneal endothelial syndrome skos:exactMatch mesh:D057129 semapv:UnspecifiedMatching MONDO:0018989 recurrent acute pancreatitis skos:exactMatch MEDGEN:489943 semapv:UnspecifiedMatching MONDO:0018989 recurrent acute pancreatitis skos:exactMatch NCIT:C184324 Recurrent Acute Pancreatitis semapv:UnspecifiedMatching MONDO:0018989 recurrent acute pancreatitis skos:exactMatch SCTID:197458008 semapv:UnspecifiedMatching MONDO:0018989 recurrent acute pancreatitis skos:exactMatch UMLS:C0267937 semapv:UnspecifiedMatching MONDO:0018989 recurrent acute pancreatitis skos:exactMatch icd11.foundation:300900170 Recurrent acute pancreatitis semapv:UnspecifiedMatching MONDO:0018991 hepatoportal sclerosis skos:exactMatch MEDGEN:1391122 semapv:UnspecifiedMatching MONDO:0018991 hepatoportal sclerosis skos:exactMatch Orphanet:64743 Hepatoportal sclerosis semapv:UnspecifiedMatching MONDO:0018991 hepatoportal sclerosis skos:exactMatch SCTID:718096004 semapv:UnspecifiedMatching MONDO:0018991 hepatoportal sclerosis skos:exactMatch UMLS:C4476911 semapv:UnspecifiedMatching MONDO:0018992 IgG4-related thyroid disease skos:exactMatch DOID:14351 Riedel's fibrosing thyroiditis semapv:UnspecifiedMatching MONDO:0018992 IgG4-related thyroid disease skos:exactMatch MEDGEN:509536 semapv:UnspecifiedMatching MONDO:0018992 IgG4-related thyroid disease skos:exactMatch NCIT:C35827 Riedel Fibrosing Thyroiditis semapv:UnspecifiedMatching MONDO:0018992 IgG4-related thyroid disease skos:exactMatch Orphanet:64744 IgG4-related thyroid disease semapv:UnspecifiedMatching MONDO:0018992 IgG4-related thyroid disease skos:exactMatch SCTID:89024000 semapv:UnspecifiedMatching MONDO:0018992 IgG4-related thyroid disease skos:exactMatch UMLS:C0154162 semapv:UnspecifiedMatching MONDO:0018992 IgG4-related thyroid disease skos:exactMatch icd11.foundation:1357889668 IgG4-related thyroid disease semapv:UnspecifiedMatching MONDO:0018993 Charcot-Marie-Tooth disease type 2 skos:exactMatch DOID:0050539 Charcot-Marie-Tooth disease type 2 semapv:UnspecifiedMatching MONDO:0018993 Charcot-Marie-Tooth disease type 2 skos:exactMatch MEDGEN:124378 semapv:UnspecifiedMatching MONDO:0018993 Charcot-Marie-Tooth disease type 2 skos:exactMatch Orphanet:64746 Autosomal dominant Charcot-Marie-Tooth disease type 2 semapv:UnspecifiedMatching MONDO:0018993 Charcot-Marie-Tooth disease type 2 skos:exactMatch SCTID:715665006 semapv:UnspecifiedMatching MONDO:0018993 Charcot-Marie-Tooth disease type 2 skos:exactMatch UMLS:C0270914 semapv:UnspecifiedMatching MONDO:0018993 Charcot-Marie-Tooth disease type 2 skos:exactMatch icd11.foundation:403896648 Charcot-Marie-Tooth disease 2 axonal semapv:UnspecifiedMatching MONDO:0018994 Charcot-Marie-Tooth disease type X skos:exactMatch DOID:0050542 Charcot-Marie-Tooth disease type X semapv:UnspecifiedMatching MONDO:0018994 Charcot-Marie-Tooth disease type X skos:exactMatch MEDGEN:1637021 semapv:UnspecifiedMatching MONDO:0018994 Charcot-Marie-Tooth disease type X skos:exactMatch Orphanet:64747 X-linked Charcot-Marie-Tooth disease semapv:UnspecifiedMatching MONDO:0018994 Charcot-Marie-Tooth disease type X skos:exactMatch SCTID:230552007 semapv:UnspecifiedMatching MONDO:0018994 Charcot-Marie-Tooth disease type X skos:exactMatch UMLS:C4551551 semapv:UnspecifiedMatching MONDO:0018995 Charcot-Marie-Tooth disease type 4 skos:exactMatch DOID:0050541 Charcot-Marie-Tooth disease type 4 semapv:UnspecifiedMatching MONDO:0018995 Charcot-Marie-Tooth disease type 4 skos:exactMatch MEDGEN:905419 semapv:UnspecifiedMatching MONDO:0018995 Charcot-Marie-Tooth disease type 4 skos:exactMatch Orphanet:64749 Charcot-Marie-Tooth disease type 4 semapv:UnspecifiedMatching MONDO:0018995 Charcot-Marie-Tooth disease type 4 skos:exactMatch SCTID:715795005 semapv:UnspecifiedMatching MONDO:0018995 Charcot-Marie-Tooth disease type 4 skos:exactMatch UMLS:C4082197 semapv:UnspecifiedMatching MONDO:0018996 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 skos:exactMatch DOID:0050755 spinocerebellar ataxia with axonal neuropathy 2 semapv:UnspecifiedMatching MONDO:0018996 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 skos:exactMatch MEDGEN:340052 semapv:UnspecifiedMatching MONDO:0018996 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 skos:exactMatch NCIT:C165500 Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 2 semapv:UnspecifiedMatching MONDO:0018996 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 skos:exactMatch OMIM:606002 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 semapv:UnspecifiedMatching MONDO:0018996 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 skos:exactMatch Orphanet:64753 Spinocerebellar ataxia with axonal neuropathy type 2 semapv:UnspecifiedMatching MONDO:0018996 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 skos:exactMatch SCTID:725408001 semapv:UnspecifiedMatching MONDO:0018996 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 skos:exactMatch UMLS:C1853761 semapv:UnspecifiedMatching MONDO:0018996 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 skos:exactMatch mesh:C537308 semapv:UnspecifiedMatching MONDO:0018997 Noonan syndrome skos:exactMatch DOID:3490 Noonan syndrome semapv:UnspecifiedMatching MONDO:0018997 Noonan syndrome skos:exactMatch MEDGEN:18073 semapv:UnspecifiedMatching MONDO:0018997 Noonan syndrome skos:exactMatch NCIT:C34854 Noonan Syndrome semapv:UnspecifiedMatching MONDO:0018997 Noonan syndrome skos:exactMatch OMIMPS:163950 Noonan syndrome semapv:UnspecifiedMatching MONDO:0018997 Noonan syndrome skos:exactMatch Orphanet:648 Noonan syndrome semapv:UnspecifiedMatching MONDO:0018997 Noonan syndrome skos:exactMatch SCTID:205824006 semapv:UnspecifiedMatching MONDO:0018997 Noonan syndrome skos:exactMatch UMLS:C0028326 semapv:UnspecifiedMatching MONDO:0018997 Noonan syndrome skos:exactMatch icd11.foundation:1044395354 Noonan syndrome semapv:UnspecifiedMatching MONDO:0018997 Noonan syndrome skos:exactMatch mesh:D009634 semapv:UnspecifiedMatching MONDO:0018998 Leber congenital amaurosis skos:exactMatch DOID:14791 Leber congenital amaurosis semapv:UnspecifiedMatching MONDO:0018998 Leber congenital amaurosis skos:exactMatch MEDGEN:137922 semapv:UnspecifiedMatching MONDO:0018998 Leber congenital amaurosis skos:exactMatch NCIT:C129075 Leber Congenital Amaurosis semapv:UnspecifiedMatching MONDO:0018998 Leber congenital amaurosis skos:exactMatch OMIMPS:204000 Leber congenital amaurosis semapv:UnspecifiedMatching MONDO:0018998 Leber congenital amaurosis skos:exactMatch Orphanet:65 Leber congenital amaurosis semapv:UnspecifiedMatching MONDO:0018998 Leber congenital amaurosis skos:exactMatch SCTID:193413001 semapv:UnspecifiedMatching MONDO:0018998 Leber congenital amaurosis skos:exactMatch UMLS:C0339527 semapv:UnspecifiedMatching MONDO:0018998 Leber congenital amaurosis skos:exactMatch icd11.foundation:650490256 Leber congenital amaurosis semapv:UnspecifiedMatching MONDO:0018998 Leber congenital amaurosis skos:exactMatch mesh:D057130 semapv:UnspecifiedMatching MONDO:0018999 LCAT deficiency skos:exactMatch MEDGEN:1830326 semapv:UnspecifiedMatching MONDO:0018999 LCAT deficiency skos:exactMatch Orphanet:650 LCAT deficiency semapv:UnspecifiedMatching MONDO:0018999 LCAT deficiency skos:exactMatch SCTID:49227001 semapv:UnspecifiedMatching MONDO:0018999 LCAT deficiency skos:exactMatch UMLS:C5779633 semapv:UnspecifiedMatching MONDO:0019000 perineural cyst skos:exactMatch ICD10CM:G96.191 Perineural cyst semapv:UnspecifiedMatching MONDO:0019000 perineural cyst skos:exactMatch MEDGEN:105457 semapv:UnspecifiedMatching MONDO:0019000 perineural cyst skos:exactMatch SCTID:81634008 semapv:UnspecifiedMatching MONDO:0019000 perineural cyst skos:exactMatch UMLS:C0520720 semapv:UnspecifiedMatching MONDO:0019000 perineural cyst skos:exactMatch icd11.foundation:881909739 Perineural cyst semapv:UnspecifiedMatching MONDO:0019000 perineural cyst skos:exactMatch mesh:D052958 semapv:UnspecifiedMatching MONDO:0019002 Lhermitte-Duclos disease skos:exactMatch MEDGEN:140251 semapv:UnspecifiedMatching MONDO:0019002 Lhermitte-Duclos disease skos:exactMatch NCIT:C8419 Dysplastic Cerebellar Gangliocytoma semapv:UnspecifiedMatching MONDO:0019002 Lhermitte-Duclos disease skos:exactMatch Orphanet:65285 Lhermitte-Duclos disease semapv:UnspecifiedMatching MONDO:0019002 Lhermitte-Duclos disease skos:exactMatch UMLS:C0391826 semapv:UnspecifiedMatching MONDO:0019003 multiple endocrine neoplasia type 2 skos:exactMatch MEDGEN:887211 semapv:UnspecifiedMatching MONDO:0019003 multiple endocrine neoplasia type 2 skos:exactMatch NCIT:C123329 Multiple Endocrine Neoplasia Type 2 semapv:UnspecifiedMatching MONDO:0019003 multiple endocrine neoplasia type 2 skos:exactMatch Orphanet:653 Multiple endocrine neoplasia type 2 semapv:UnspecifiedMatching MONDO:0019003 multiple endocrine neoplasia type 2 skos:exactMatch SCTID:61808009 semapv:UnspecifiedMatching MONDO:0019003 multiple endocrine neoplasia type 2 skos:exactMatch UMLS:C4048306 semapv:UnspecifiedMatching MONDO:0019003 multiple endocrine neoplasia type 2 skos:exactMatch icd11.foundation:1837913809 Multiple endocrine neoplasia type 2 semapv:UnspecifiedMatching MONDO:0019004 kidney Wilms tumor skos:exactMatch DOID:2154 nephroblastoma semapv:UnspecifiedMatching MONDO:0019004 kidney Wilms tumor skos:exactMatch DOID:5176 renal Wilms' tumor semapv:UnspecifiedMatching MONDO:0019004 kidney Wilms tumor skos:exactMatch NCIT:C40407 Kidney Wilms Tumor semapv:UnspecifiedMatching MONDO:0019004 kidney Wilms tumor skos:exactMatch Orphanet:654 Nephroblastoma semapv:UnspecifiedMatching MONDO:0019004 kidney Wilms tumor skos:exactMatch SCTID:302849000 semapv:UnspecifiedMatching MONDO:0019005 nephronophthisis skos:exactMatch DOID:12712 nephronophthisis semapv:UnspecifiedMatching MONDO:0019005 nephronophthisis skos:exactMatch MEDGEN:146912 semapv:UnspecifiedMatching MONDO:0019005 nephronophthisis skos:exactMatch NCIT:C123200 Nephronophthisis semapv:UnspecifiedMatching MONDO:0019005 nephronophthisis skos:exactMatch OMIMPS:256100 Nephronophthisis semapv:UnspecifiedMatching MONDO:0019005 nephronophthisis skos:exactMatch Orphanet:655 Nephronophthisis semapv:UnspecifiedMatching MONDO:0019005 nephronophthisis skos:exactMatch UMLS:C0687120 semapv:UnspecifiedMatching MONDO:0019005 nephronophthisis skos:exactMatch icd11.foundation:158151813 Nephronophthisis semapv:UnspecifiedMatching MONDO:0019006 familial idiopathic steroid-resistant nephrotic syndrome skos:exactMatch MEDGEN:902527 semapv:UnspecifiedMatching MONDO:0019006 familial idiopathic steroid-resistant nephrotic syndrome skos:exactMatch Orphanet:656 Hereditary steroid-resistant nephrotic syndrome semapv:UnspecifiedMatching MONDO:0019006 familial idiopathic steroid-resistant nephrotic syndrome skos:exactMatch SCTID:718141008 semapv:UnspecifiedMatching MONDO:0019006 familial idiopathic steroid-resistant nephrotic syndrome skos:exactMatch UMLS:C4273714 semapv:UnspecifiedMatching MONDO:0019006 familial idiopathic steroid-resistant nephrotic syndrome skos:exactMatch icd11.foundation:1385860879 Familial idiopathic steroid-resistant nephrotic syndrome semapv:UnspecifiedMatching MONDO:0019007 vaginal atresia skos:exactMatch MEDGEN:232948 semapv:UnspecifiedMatching MONDO:0019007 vaginal atresia skos:exactMatch Orphanet:65681 Vaginal atresia semapv:UnspecifiedMatching MONDO:0019007 vaginal atresia skos:exactMatch UMLS:C1321884 semapv:UnspecifiedMatching MONDO:0019007 vaginal atresia skos:exactMatch icd11.foundation:1126562070 Stricture or atresia of vagina semapv:UnspecifiedMatching MONDO:0019008 benign recurrent intrahepatic cholestasis skos:exactMatch DOID:0070230 benign recurrent intrahepatic cholestasis semapv:UnspecifiedMatching MONDO:0019008 benign recurrent intrahepatic cholestasis skos:exactMatch MEDGEN:57703 semapv:UnspecifiedMatching MONDO:0019008 benign recurrent intrahepatic cholestasis skos:exactMatch OMIMPS:243300 Cholestasis, benign recurrent intrahepatic semapv:UnspecifiedMatching MONDO:0019008 benign recurrent intrahepatic cholestasis skos:exactMatch Orphanet:65682 Benign recurrent intrahepatic cholestasis semapv:UnspecifiedMatching MONDO:0019008 benign recurrent intrahepatic cholestasis skos:exactMatch SCTID:31155007 semapv:UnspecifiedMatching MONDO:0019008 benign recurrent intrahepatic cholestasis skos:exactMatch UMLS:C0149841 semapv:UnspecifiedMatching MONDO:0019008 benign recurrent intrahepatic cholestasis skos:exactMatch icd11.foundation:288945286 Benign recurrent intrahepatic cholestasis semapv:UnspecifiedMatching MONDO:0019009 isolated focal cortical dysplasia skos:exactMatch MEDGEN:1645432 semapv:UnspecifiedMatching MONDO:0019009 isolated focal cortical dysplasia skos:exactMatch Orphanet:65683 Isolated focal cortical dysplasia semapv:UnspecifiedMatching MONDO:0019009 isolated focal cortical dysplasia skos:exactMatch SCTID:766710005 semapv:UnspecifiedMatching MONDO:0019009 isolated focal cortical dysplasia skos:exactMatch UMLS:C4707795 semapv:UnspecifiedMatching MONDO:0019010 congenital isolated hyperinsulinism skos:exactMatch NCIT:C122923 Persistent Hyperinsulinemic Hypoglycemia of Infancy semapv:UnspecifiedMatching MONDO:0019010 congenital isolated hyperinsulinism skos:exactMatch Orphanet:657 Congenital isolated hyperinsulinism semapv:UnspecifiedMatching MONDO:0019011 Charcot-Marie-Tooth disease type 1 skos:exactMatch DOID:0050538 Charcot-Marie-Tooth disease type 1 semapv:UnspecifiedMatching MONDO:0019011 Charcot-Marie-Tooth disease type 1 skos:exactMatch MEDGEN:155486 semapv:UnspecifiedMatching MONDO:0019011 Charcot-Marie-Tooth disease type 1 skos:exactMatch Orphanet:65753 Charcot-Marie-Tooth disease type 1 semapv:UnspecifiedMatching MONDO:0019011 Charcot-Marie-Tooth disease type 1 skos:exactMatch SCTID:398040009 semapv:UnspecifiedMatching MONDO:0019011 Charcot-Marie-Tooth disease type 1 skos:exactMatch UMLS:C0751036 semapv:UnspecifiedMatching MONDO:0019012 Carpenter syndrome skos:exactMatch DOID:0060234 Carpenter syndrome semapv:UnspecifiedMatching MONDO:0019012 Carpenter syndrome skos:exactMatch MEDGEN:226897 semapv:UnspecifiedMatching MONDO:0019012 Carpenter syndrome skos:exactMatch NCIT:C98873 Type II Acrocephalopolysyndactyly semapv:UnspecifiedMatching MONDO:0019012 Carpenter syndrome skos:exactMatch OMIMPS:201000 Carpenter syndrome semapv:UnspecifiedMatching MONDO:0019012 Carpenter syndrome skos:exactMatch Orphanet:65759 Carpenter syndrome semapv:UnspecifiedMatching MONDO:0019012 Carpenter syndrome skos:exactMatch SCTID:403767009 semapv:UnspecifiedMatching MONDO:0019012 Carpenter syndrome skos:exactMatch UMLS:C1275078 semapv:UnspecifiedMatching MONDO:0019012 Carpenter syndrome skos:exactMatch icd11.foundation:2132713612 Carpenter syndrome semapv:UnspecifiedMatching MONDO:0019013 non-histaminic angioedema skos:exactMatch Orphanet:658 Non-histaminic angioedema semapv:UnspecifiedMatching MONDO:0019013 non-histaminic angioedema skos:exactMatch SCTID:41291007 semapv:UnspecifiedMatching MONDO:0019015 omphalocele skos:exactMatch DOID:0060327 omphalocele semapv:UnspecifiedMatching MONDO:0019015 omphalocele skos:exactMatch MEDGEN:162756 semapv:UnspecifiedMatching MONDO:0019015 omphalocele skos:exactMatch NCIT:C98997 Omphalocele semapv:UnspecifiedMatching MONDO:0019015 omphalocele skos:exactMatch Orphanet:660 Omphalocele semapv:UnspecifiedMatching MONDO:0019015 omphalocele skos:exactMatch SCTID:18735004 semapv:UnspecifiedMatching MONDO:0019015 omphalocele skos:exactMatch UMLS:C0795690 semapv:UnspecifiedMatching MONDO:0019015 omphalocele skos:exactMatch icd11.foundation:1168696429 Omphalocele semapv:UnspecifiedMatching MONDO:0019016 maternally-inherited progressive external ophthalmoplegia skos:exactMatch Orphanet:663 Mitochondrial DNA-related progressive external ophthalmoplegia semapv:UnspecifiedMatching MONDO:0019017 short fifth metacarpals-insulin resistance syndrome skos:exactMatch MEDGEN:929290 semapv:UnspecifiedMatching MONDO:0019017 short fifth metacarpals-insulin resistance syndrome skos:exactMatch Orphanet:66518 Short fifth metacarpals-insulin resistance syndrome semapv:UnspecifiedMatching MONDO:0019017 short fifth metacarpals-insulin resistance syndrome skos:exactMatch UMLS:C4303621 semapv:UnspecifiedMatching MONDO:0019018 Tako-tsubo cardiomyopathy skos:exactMatch EFO:1002000 semapv:UnspecifiedMatching MONDO:0019018 Tako-tsubo cardiomyopathy skos:exactMatch ICD10CM:I51.81 Takotsubo syndrome semapv:UnspecifiedMatching MONDO:0019018 Tako-tsubo cardiomyopathy skos:exactMatch MEDGEN:366029 semapv:UnspecifiedMatching MONDO:0019018 Tako-tsubo cardiomyopathy skos:exactMatch NCIT:C85181 Takotsubo Cardiomyopathy semapv:UnspecifiedMatching MONDO:0019018 Tako-tsubo cardiomyopathy skos:exactMatch Orphanet:66529 Tako-Tsubo cardiomyopathy semapv:UnspecifiedMatching MONDO:0019018 Tako-tsubo cardiomyopathy skos:exactMatch SCTID:441541008 semapv:UnspecifiedMatching MONDO:0019018 Tako-tsubo cardiomyopathy skos:exactMatch UMLS:C1739395 semapv:UnspecifiedMatching MONDO:0019018 Tako-tsubo cardiomyopathy skos:exactMatch icd11.foundation:478139552 Stress-induced cardiomyopathy semapv:UnspecifiedMatching MONDO:0019018 Tako-tsubo cardiomyopathy skos:exactMatch mesh:D054549 semapv:UnspecifiedMatching MONDO:0019019 osteogenesis imperfecta skos:exactMatch DOID:12347 osteogenesis imperfecta semapv:UnspecifiedMatching MONDO:0019019 osteogenesis imperfecta skos:exactMatch ICD10CM:Q78.0 Osteogenesis imperfecta semapv:UnspecifiedMatching MONDO:0019019 osteogenesis imperfecta skos:exactMatch MEDGEN:45246 semapv:UnspecifiedMatching MONDO:0019019 osteogenesis imperfecta skos:exactMatch NCIT:C26837 Osteogenesis Imperfecta semapv:UnspecifiedMatching MONDO:0019019 osteogenesis imperfecta skos:exactMatch OMIMPS:166200 Osteogenesis imperfecta semapv:UnspecifiedMatching MONDO:0019019 osteogenesis imperfecta skos:exactMatch Orphanet:666 Osteogenesis imperfecta semapv:UnspecifiedMatching MONDO:0019019 osteogenesis imperfecta skos:exactMatch SCTID:78314001 semapv:UnspecifiedMatching MONDO:0019019 osteogenesis imperfecta skos:exactMatch UMLS:C0029434 semapv:UnspecifiedMatching MONDO:0019019 osteogenesis imperfecta skos:exactMatch icd11.foundation:1219932551 Osteogenesis imperfecta semapv:UnspecifiedMatching MONDO:0019019 osteogenesis imperfecta skos:exactMatch mesh:D010013 semapv:UnspecifiedMatching MONDO:0019020 PANDAS skos:exactMatch MEDGEN:419798 semapv:UnspecifiedMatching MONDO:0019020 PANDAS skos:exactMatch Orphanet:66624 PANDAS semapv:UnspecifiedMatching MONDO:0019020 PANDAS skos:exactMatch UMLS:C2931429 semapv:UnspecifiedMatching MONDO:0019020 PANDAS skos:exactMatch mesh:C537163 semapv:UnspecifiedMatching MONDO:0019022 sensorineural hearing loss-early graying-essential tremor syndrome skos:exactMatch MEDGEN:1389497 semapv:UnspecifiedMatching MONDO:0019022 sensorineural hearing loss-early graying-essential tremor syndrome skos:exactMatch Orphanet:66633 Sensorineural hearing loss-early graying-essential tremor syndrome semapv:UnspecifiedMatching MONDO:0019022 sensorineural hearing loss-early graying-essential tremor syndrome skos:exactMatch UMLS:C4510044 semapv:UnspecifiedMatching MONDO:0019023 cutaneous mastocytosis skos:exactMatch DOID:3663 cutaneous mastocytosis semapv:UnspecifiedMatching MONDO:0019023 cutaneous mastocytosis skos:exactMatch EFO:1000886 semapv:UnspecifiedMatching MONDO:0019023 cutaneous mastocytosis skos:exactMatch ICD10CM:D47.01 Cutaneous mastocytosis semapv:UnspecifiedMatching MONDO:0019023 cutaneous mastocytosis skos:exactMatch MEDGEN:210143 semapv:UnspecifiedMatching MONDO:0019023 cutaneous mastocytosis skos:exactMatch NCIT:C7137 Cutaneous Mastocytosis semapv:UnspecifiedMatching MONDO:0019023 cutaneous mastocytosis skos:exactMatch OMIM:154800 mastocytosis, cutaneous semapv:UnspecifiedMatching MONDO:0019023 cutaneous mastocytosis skos:exactMatch Orphanet:66646 Cutaneous mastocytosis semapv:UnspecifiedMatching MONDO:0019023 cutaneous mastocytosis skos:exactMatch SCTID:397012002 semapv:UnspecifiedMatching MONDO:0019023 cutaneous mastocytosis skos:exactMatch UMLS:C1136033 semapv:UnspecifiedMatching MONDO:0019023 cutaneous mastocytosis skos:exactMatch icd11.foundation:1300710062 Cutaneous mastocytosis semapv:UnspecifiedMatching MONDO:0019023 cutaneous mastocytosis skos:exactMatch mesh:D034701 semapv:UnspecifiedMatching MONDO:0019024 mast cell sarcoma skos:exactMatch DOID:355 mast-cell sarcoma semapv:UnspecifiedMatching MONDO:0019024 mast cell sarcoma skos:exactMatch EFO:1000364 semapv:UnspecifiedMatching MONDO:0019024 mast cell sarcoma skos:exactMatch ICD10CM:C96.22 Mast cell sarcoma semapv:UnspecifiedMatching MONDO:0019024 mast cell sarcoma skos:exactMatch MEDGEN:11322 semapv:UnspecifiedMatching MONDO:0019024 mast cell sarcoma skos:exactMatch NCIT:C9348 Mast Cell Sarcoma semapv:UnspecifiedMatching MONDO:0019024 mast cell sarcoma skos:exactMatch Orphanet:66661 Mast cell sarcoma semapv:UnspecifiedMatching MONDO:0019024 mast cell sarcoma skos:exactMatch SCTID:118615008 semapv:UnspecifiedMatching MONDO:0019024 mast cell sarcoma skos:exactMatch UMLS:C0036221 semapv:UnspecifiedMatching MONDO:0019024 mast cell sarcoma skos:exactMatch icd11.foundation:1993363632 semapv:UnspecifiedMatching MONDO:0019024 mast cell sarcoma skos:exactMatch icd11.foundation:233404891 Mast cell sarcoma semapv:UnspecifiedMatching MONDO:0019024 mast cell sarcoma skos:exactMatch mesh:D012515 semapv:UnspecifiedMatching MONDO:0019025 extracutaneous mastocytoma skos:exactMatch DOID:4659 extracutaneous mastocytoma semapv:UnspecifiedMatching MONDO:0019025 extracutaneous mastocytoma skos:exactMatch MEDGEN:75774 semapv:UnspecifiedMatching MONDO:0019025 extracutaneous mastocytoma skos:exactMatch NCIT:C7136 Extracutaneous Mastocytoma semapv:UnspecifiedMatching MONDO:0019025 extracutaneous mastocytoma skos:exactMatch Orphanet:66662 Extracutaneous mastocytoma semapv:UnspecifiedMatching MONDO:0019025 extracutaneous mastocytoma skos:exactMatch SCTID:63175003 semapv:UnspecifiedMatching MONDO:0019025 extracutaneous mastocytoma skos:exactMatch UMLS:C0272202 semapv:UnspecifiedMatching MONDO:0019025 extracutaneous mastocytoma skos:exactMatch icd11.foundation:29932455 Extracutaneous mastocytoma semapv:UnspecifiedMatching MONDO:0019026 autosomal recessive osteopetrosis skos:exactMatch MEDGEN:1385510 semapv:UnspecifiedMatching MONDO:0019026 autosomal recessive osteopetrosis skos:exactMatch NCIT:C129733 Autosomal Recessive Osteopetrosis semapv:UnspecifiedMatching MONDO:0019026 autosomal recessive osteopetrosis skos:exactMatch OMIMPS:259700 Osteopetrosis, autosomal recessive semapv:UnspecifiedMatching MONDO:0019026 autosomal recessive osteopetrosis skos:exactMatch Orphanet:667 Autosomal recessive malignant osteopetrosis semapv:UnspecifiedMatching MONDO:0019026 autosomal recessive osteopetrosis skos:exactMatch SCTID:367489004 semapv:UnspecifiedMatching MONDO:0019026 autosomal recessive osteopetrosis skos:exactMatch UMLS:C4272578 semapv:UnspecifiedMatching MONDO:0019027 otopalatodigital syndrome skos:exactMatch MEDGEN:1843451 semapv:UnspecifiedMatching MONDO:0019027 otopalatodigital syndrome skos:exactMatch SCTID:767130007 semapv:UnspecifiedMatching MONDO:0019027 otopalatodigital syndrome skos:exactMatch UMLS:C5779873 semapv:UnspecifiedMatching MONDO:0019027 otopalatodigital syndrome skos:exactMatch icd11.foundation:1506946342 Otopalatodigital syndrome semapv:UnspecifiedMatching MONDO:0019028 amoebiasis due to Entamoeba histolytica skos:exactMatch MEDGEN:443898 semapv:UnspecifiedMatching MONDO:0019028 amoebiasis due to Entamoeba histolytica skos:exactMatch Orphanet:67 Amoebiasis due to Entamoeba histolytica semapv:UnspecifiedMatching MONDO:0019028 amoebiasis due to Entamoeba histolytica skos:exactMatch UMLS:C2930799 semapv:UnspecifiedMatching MONDO:0019028 amoebiasis due to Entamoeba histolytica skos:exactMatch mesh:C531613 semapv:UnspecifiedMatching MONDO:0019029 segmental odontomaxillary dysplasia skos:exactMatch MEDGEN:785795 semapv:UnspecifiedMatching MONDO:0019029 segmental odontomaxillary dysplasia skos:exactMatch Orphanet:67039 Segmental odontomaxillary dysplasia semapv:UnspecifiedMatching MONDO:0019029 segmental odontomaxillary dysplasia skos:exactMatch SCTID:699756005 semapv:UnspecifiedMatching MONDO:0019029 segmental odontomaxillary dysplasia skos:exactMatch UMLS:C3698531 semapv:UnspecifiedMatching MONDO:0019029 segmental odontomaxillary dysplasia skos:exactMatch icd11.foundation:1309035766 Segmental odontomaxillary dysplasia semapv:UnspecifiedMatching MONDO:0019031 thrombocytopenia with congenital dyserythropoietic anemia skos:exactMatch MEDGEN:928177 semapv:UnspecifiedMatching MONDO:0019031 thrombocytopenia with congenital dyserythropoietic anemia skos:exactMatch Orphanet:67044 Thrombocytopenia with congenital dyserythropoietic anemia semapv:UnspecifiedMatching MONDO:0019031 thrombocytopenia with congenital dyserythropoietic anemia skos:exactMatch SCTID:722475006 semapv:UnspecifiedMatching MONDO:0019031 thrombocytopenia with congenital dyserythropoietic anemia skos:exactMatch UMLS:C4302508 semapv:UnspecifiedMatching MONDO:0019032 X-linked intellectual disability with isolated growth hormone deficiency skos:exactMatch MEDGEN:341145 semapv:UnspecifiedMatching MONDO:0019032 X-linked intellectual disability with isolated growth hormone deficiency skos:exactMatch Orphanet:67045 X-linked intellectual disability with isolated growth hormone deficiency semapv:UnspecifiedMatching MONDO:0019032 X-linked intellectual disability with isolated growth hormone deficiency skos:exactMatch UMLS:C1848068 semapv:UnspecifiedMatching MONDO:0019033 primary cutis verticis gyrata skos:exactMatch MEDGEN:78095 semapv:UnspecifiedMatching MONDO:0019033 primary cutis verticis gyrata skos:exactMatch Orphanet:671 Primary cutis verticis gyrata semapv:UnspecifiedMatching MONDO:0019033 primary cutis verticis gyrata skos:exactMatch SCTID:51603000 semapv:UnspecifiedMatching MONDO:0019033 primary cutis verticis gyrata skos:exactMatch UMLS:C0263417 semapv:UnspecifiedMatching MONDO:0019033 primary cutis verticis gyrata skos:exactMatch icd11.foundation:71926572 Primary cutis verticis gyrata semapv:UnspecifiedMatching MONDO:0019034 accessory pancreas skos:exactMatch MEDGEN:82737 semapv:UnspecifiedMatching MONDO:0019034 accessory pancreas skos:exactMatch Orphanet:674 Accessory pancreas semapv:UnspecifiedMatching MONDO:0019034 accessory pancreas skos:exactMatch SCTID:79037006 semapv:UnspecifiedMatching MONDO:0019034 accessory pancreas skos:exactMatch UMLS:C0266268 semapv:UnspecifiedMatching MONDO:0019034 accessory pancreas skos:exactMatch icd11.foundation:240534435 Accessory pancreas semapv:UnspecifiedMatching MONDO:0019034 accessory pancreas skos:exactMatch mesh:C536003 semapv:UnspecifiedMatching MONDO:0019035 pancreatoblastoma skos:exactMatch DOID:6823 pancreatoblastoma semapv:UnspecifiedMatching MONDO:0019035 pancreatoblastoma skos:exactMatch MEDGEN:87250 semapv:UnspecifiedMatching MONDO:0019035 pancreatoblastoma skos:exactMatch NCIT:C4265 Pancreatoblastoma semapv:UnspecifiedMatching MONDO:0019035 pancreatoblastoma skos:exactMatch Orphanet:677 Pancreatoblastoma semapv:UnspecifiedMatching MONDO:0019035 pancreatoblastoma skos:exactMatch UMLS:C0334489 semapv:UnspecifiedMatching MONDO:0019035 pancreatoblastoma skos:exactMatch icd11.foundation:1310236105 semapv:UnspecifiedMatching MONDO:0019035 pancreatoblastoma skos:exactMatch icd11.foundation:733863058 Pancreatoblastoma semapv:UnspecifiedMatching MONDO:0019035 pancreatoblastoma skos:exactMatch mesh:C537162 semapv:UnspecifiedMatching MONDO:0019036 amoebiasis due to free-living amoebae skos:exactMatch MEDGEN:509253 semapv:UnspecifiedMatching MONDO:0019036 amoebiasis due to free-living amoebae skos:exactMatch Orphanet:68 Amoebiasis due to free-living amoebae semapv:UnspecifiedMatching MONDO:0019036 amoebiasis due to free-living amoebae skos:exactMatch UMLS:C0153326 semapv:UnspecifiedMatching MONDO:0019037 progressive supranuclear palsy skos:exactMatch DOID:678 progressive supranuclear palsy semapv:UnspecifiedMatching MONDO:0019037 progressive supranuclear palsy skos:exactMatch ICD10CM:G23.1 Progressive supranuclear ophthalmoplegia [Steele-Richardson-Olszewski] semapv:UnspecifiedMatching MONDO:0019037 progressive supranuclear palsy skos:exactMatch MEDGEN:21026 semapv:UnspecifiedMatching MONDO:0019037 progressive supranuclear palsy skos:exactMatch NCIT:C85028 Progressive Supranuclear Palsy semapv:UnspecifiedMatching MONDO:0019037 progressive supranuclear palsy skos:exactMatch OMIMPS:601104 Supranuclear palsy, progressive semapv:UnspecifiedMatching MONDO:0019037 progressive supranuclear palsy skos:exactMatch Orphanet:683 Progressive supranuclear palsy semapv:UnspecifiedMatching MONDO:0019037 progressive supranuclear palsy skos:exactMatch SCTID:192976002 semapv:UnspecifiedMatching MONDO:0019037 progressive supranuclear palsy skos:exactMatch UMLS:C0038868 semapv:UnspecifiedMatching MONDO:0019037 progressive supranuclear palsy skos:exactMatch icd11.foundation:1493396558 Progressive supranuclear palsy semapv:UnspecifiedMatching MONDO:0019037 progressive supranuclear palsy skos:exactMatch mesh:D013494 semapv:UnspecifiedMatching MONDO:0019038 obsolete rare maxillo-facial surgical disease skos:exactMatch Orphanet:68329 Rare maxillo-facial surgical disease semapv:UnspecifiedMatching MONDO:0019039 obsolete rare hemorrhagic disorder due to a constitutional coagulation factors defect skos:exactMatch Orphanet:68334 Rare hemorrhagic disorder due to a constitutional coagulation factors defect semapv:UnspecifiedMatching MONDO:0019040 chromosomal disorder skos:exactMatch DOID:0080014 chromosomal disease semapv:UnspecifiedMatching MONDO:0019040 chromosomal disorder skos:exactMatch ICD10CM:Q90-Q99 Chromosomal abnormalities, not elsewhere classified (Q90-Q99) semapv:UnspecifiedMatching MONDO:0019040 chromosomal disorder skos:exactMatch MEDGEN:3441 semapv:UnspecifiedMatching MONDO:0019040 chromosomal disorder skos:exactMatch NCIT:C34470 Chromosome Disorder semapv:UnspecifiedMatching MONDO:0019040 chromosomal disorder skos:exactMatch Orphanet:68335 Rare chromosomal anomaly semapv:UnspecifiedMatching MONDO:0019040 chromosomal disorder skos:exactMatch SCTID:409709004 semapv:UnspecifiedMatching MONDO:0019040 chromosomal disorder skos:exactMatch UMLS:C0008626 semapv:UnspecifiedMatching MONDO:0019040 chromosomal disorder skos:exactMatch mesh:D025063 semapv:UnspecifiedMatching MONDO:0019041 obsolete rare genetic inherited tumor skos:exactMatch Orphanet:68336 Rare genetic tumor semapv:UnspecifiedMatching MONDO:0019042 multiple congenital anomalies/dysmorphic syndrome skos:exactMatch MEDGEN:1843247 semapv:UnspecifiedMatching MONDO:0019042 multiple congenital anomalies/dysmorphic syndrome skos:exactMatch Orphanet:68341 Multiple congenital anomalies/dysmorphic syndrome semapv:UnspecifiedMatching MONDO:0019042 multiple congenital anomalies/dysmorphic syndrome skos:exactMatch UMLS:C5681310 semapv:UnspecifiedMatching MONDO:0019043 obsolete rare genetic skin disease skos:exactMatch Orphanet:68346 Rare genetic skin disease semapv:UnspecifiedMatching MONDO:0019044 obsolete tumor of hematopoietic and lymphoid tissues skos:exactMatch Orphanet:68347 Tumor of hematopoietic and lymphoid tissues semapv:UnspecifiedMatching MONDO:0019045 obsolete rare sleep disorder skos:exactMatch Orphanet:68354 Rare sleep disorder semapv:UnspecifiedMatching MONDO:0019046 leukodystrophy skos:exactMatch DOID:0050987 hypomyelinating leukoencephalopathy semapv:UnspecifiedMatching MONDO:0019046 leukodystrophy skos:exactMatch DOID:0060786 hypomyelinating leukodystrophy semapv:UnspecifiedMatching MONDO:0019046 leukodystrophy skos:exactMatch DOID:10579 leukodystrophy semapv:UnspecifiedMatching MONDO:0019046 leukodystrophy skos:exactMatch MEDGEN:6070 semapv:UnspecifiedMatching MONDO:0019046 leukodystrophy skos:exactMatch NCIT:C61253 Leukodystrophy semapv:UnspecifiedMatching MONDO:0019046 leukodystrophy skos:exactMatch OMIMPS:312080 Leukodystrophy, hypomyelinating semapv:UnspecifiedMatching MONDO:0019046 leukodystrophy skos:exactMatch Orphanet:68356 Leukodystrophy semapv:UnspecifiedMatching MONDO:0019046 leukodystrophy skos:exactMatch SCTID:192781003 semapv:UnspecifiedMatching MONDO:0019046 leukodystrophy skos:exactMatch UMLS:C0023520 semapv:UnspecifiedMatching MONDO:0019046 leukodystrophy skos:exactMatch icd11.foundation:468040251 Leukodystrophies semapv:UnspecifiedMatching MONDO:0019047 obsolete rare deafness skos:exactMatch NCIT:C36194 Complete Deafness semapv:UnspecifiedMatching MONDO:0019047 obsolete rare deafness skos:exactMatch Orphanet:68361 Rare deafness semapv:UnspecifiedMatching MONDO:0019048 obsolete rare vascular disease skos:exactMatch Orphanet:68362 Rare vascular disease semapv:UnspecifiedMatching MONDO:0019049 obsolete rare dystonia skos:exactMatch Orphanet:68363 Rare dystonia semapv:UnspecifiedMatching MONDO:0019050 inherited hemoglobinopathy skos:exactMatch DOID:2860 hemoglobinopathy semapv:UnspecifiedMatching MONDO:0019050 inherited hemoglobinopathy skos:exactMatch NCIT:C3092 Hemoglobinopathy semapv:UnspecifiedMatching MONDO:0019050 inherited hemoglobinopathy skos:exactMatch Orphanet:68364 Hemoglobinopathy semapv:UnspecifiedMatching MONDO:0019050 inherited hemoglobinopathy skos:exactMatch SCTID:427306008 semapv:UnspecifiedMatching MONDO:0019050 inherited hemoglobinopathy skos:exactMatch mesh:D006453 semapv:UnspecifiedMatching MONDO:0019052 inborn errors of metabolism skos:exactMatch DOID:655 inherited metabolic disorder semapv:UnspecifiedMatching MONDO:0019052 inborn errors of metabolism skos:exactMatch MEDGEN:6323 semapv:UnspecifiedMatching MONDO:0019052 inborn errors of metabolism skos:exactMatch NCIT:C34816 Congenital Metabolic Disorder semapv:UnspecifiedMatching MONDO:0019052 inborn errors of metabolism skos:exactMatch Orphanet:68367 Rare inborn errors of metabolism semapv:UnspecifiedMatching MONDO:0019052 inborn errors of metabolism skos:exactMatch SCTID:86095007 semapv:UnspecifiedMatching MONDO:0019052 inborn errors of metabolism skos:exactMatch UMLS:C0025521 semapv:UnspecifiedMatching MONDO:0019052 inborn errors of metabolism skos:exactMatch icd11.foundation:733825440 Inborn errors of metabolism semapv:UnspecifiedMatching MONDO:0019052 inborn errors of metabolism skos:exactMatch mesh:D008661 semapv:UnspecifiedMatching MONDO:0019053 peroxisomal disease skos:exactMatch DOID:906 peroxisomal disease semapv:UnspecifiedMatching MONDO:0019053 peroxisomal disease skos:exactMatch MEDGEN:129185 semapv:UnspecifiedMatching MONDO:0019053 peroxisomal disease skos:exactMatch NCIT:C85005 Peroxisomal Disorder semapv:UnspecifiedMatching MONDO:0019053 peroxisomal disease skos:exactMatch Orphanet:68373 Peroxisomal disease semapv:UnspecifiedMatching MONDO:0019053 peroxisomal disease skos:exactMatch SCTID:238059005 semapv:UnspecifiedMatching MONDO:0019053 peroxisomal disease skos:exactMatch UMLS:C0282528 semapv:UnspecifiedMatching MONDO:0019053 peroxisomal disease skos:exactMatch icd11.foundation:782299726 Peroxisomal diseases semapv:UnspecifiedMatching MONDO:0019054 congenital limb malformation skos:exactMatch Orphanet:68378 Congenital limb malformation semapv:UnspecifiedMatching MONDO:0019056 neuromuscular disease skos:exactMatch DOID:440 neuromuscular disease semapv:UnspecifiedMatching MONDO:0019056 neuromuscular disease skos:exactMatch EFO:1001902 semapv:UnspecifiedMatching MONDO:0019056 neuromuscular disease skos:exactMatch MEDGEN:10323 semapv:UnspecifiedMatching MONDO:0019056 neuromuscular disease skos:exactMatch Orphanet:68381 Neuromuscular disease semapv:UnspecifiedMatching MONDO:0019056 neuromuscular disease skos:exactMatch UMLS:C0027868 semapv:UnspecifiedMatching MONDO:0019056 neuromuscular disease skos:exactMatch mesh:D009468 semapv:UnspecifiedMatching MONDO:0019058 obsolete neurometabolic disease skos:exactMatch Orphanet:68385 Neurometabolic disease semapv:UnspecifiedMatching MONDO:0019059 obsolete rare parkinsonian disorder skos:exactMatch Orphanet:68402 Rare parkinsonian disorder semapv:UnspecifiedMatching MONDO:0019060 bone neoplasm skos:exactMatch EFO:0003820 semapv:UnspecifiedMatching MONDO:0019060 bone neoplasm skos:exactMatch MEDGEN:488993 semapv:UnspecifiedMatching MONDO:0019060 bone neoplasm skos:exactMatch NCIT:C9343 Bone Neoplasm semapv:UnspecifiedMatching MONDO:0019060 bone neoplasm skos:exactMatch Orphanet:68411 Rare bone tumor semapv:UnspecifiedMatching MONDO:0019060 bone neoplasm skos:exactMatch UMLS:C2732838 semapv:UnspecifiedMatching MONDO:0019061 obsolete rare parathyroid disease and phosphocalcic metabolism anomaly skos:exactMatch Orphanet:68415 Rare parathyroid disease and phosphocalcic metabolism anomaly semapv:UnspecifiedMatching MONDO:0019062 obsolete rare infectious disease skos:exactMatch Orphanet:68416 Rare infectious disease semapv:UnspecifiedMatching MONDO:0019063 obsolete vascular anomaly skos:exactMatch Orphanet:68419 Rare vascular anomaly semapv:UnspecifiedMatching MONDO:0019064 hereditary spastic paraplegia skos:exactMatch DOID:2476 hereditary spastic paraplegia semapv:UnspecifiedMatching MONDO:0019064 hereditary spastic paraplegia skos:exactMatch ICD10CM:G11.4 Hereditary spastic paraplegia semapv:UnspecifiedMatching MONDO:0019064 hereditary spastic paraplegia skos:exactMatch MEDGEN:20844 semapv:UnspecifiedMatching MONDO:0019064 hereditary spastic paraplegia skos:exactMatch NCIT:C140267 Hereditary Spastic Paraplegia semapv:UnspecifiedMatching MONDO:0019064 hereditary spastic paraplegia skos:exactMatch OMIMPS:303350 Spastic paraplegia semapv:UnspecifiedMatching MONDO:0019064 hereditary spastic paraplegia skos:exactMatch Orphanet:685 Hereditary spastic paraplegia semapv:UnspecifiedMatching MONDO:0019064 hereditary spastic paraplegia skos:exactMatch SCTID:39912006 semapv:UnspecifiedMatching MONDO:0019064 hereditary spastic paraplegia skos:exactMatch UMLS:C0037773 semapv:UnspecifiedMatching MONDO:0019064 hereditary spastic paraplegia skos:exactMatch icd11.foundation:810807375 Hereditary spastic paraplegia semapv:UnspecifiedMatching MONDO:0019064 hereditary spastic paraplegia skos:exactMatch mesh:D015419 semapv:UnspecifiedMatching MONDO:0019065 amyloidosis skos:exactMatch DOID:9120 amyloidosis semapv:UnspecifiedMatching MONDO:0019065 amyloidosis skos:exactMatch EFO:1001875 semapv:UnspecifiedMatching MONDO:0019065 amyloidosis skos:exactMatch ICD10CM:E85 Amyloidosis semapv:UnspecifiedMatching MONDO:0019065 amyloidosis skos:exactMatch ICD10WHO:E85 Amyloidosis semapv:UnspecifiedMatching MONDO:0019065 amyloidosis skos:exactMatch MEDGEN:272 semapv:UnspecifiedMatching MONDO:0019065 amyloidosis skos:exactMatch NCIT:C2868 Amyloidosis semapv:UnspecifiedMatching MONDO:0019065 amyloidosis skos:exactMatch Orphanet:69 Amyloidosis semapv:UnspecifiedMatching MONDO:0019065 amyloidosis skos:exactMatch SCTID:17602002 semapv:UnspecifiedMatching MONDO:0019065 amyloidosis skos:exactMatch UMLS:C0002726 semapv:UnspecifiedMatching MONDO:0019065 amyloidosis skos:exactMatch icd11.foundation:2078467774 Amyloidosis semapv:UnspecifiedMatching MONDO:0019065 amyloidosis skos:exactMatch mesh:D000686 semapv:UnspecifiedMatching MONDO:0019066 obsolete syndrome with brachydactyly skos:exactMatch Orphanet:69028 Dysostosis with brachydactyly semapv:UnspecifiedMatching MONDO:0019067 idiopathic steroid-sensitive nephrotic syndrome skos:exactMatch Orphanet:69061 Idiopathic steroid-sensitive nephrotic syndrome semapv:UnspecifiedMatching MONDO:0019068 congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization skos:exactMatch MEDGEN:1384031 semapv:UnspecifiedMatching MONDO:0019068 congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization skos:exactMatch Orphanet:69063 Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization semapv:UnspecifiedMatching MONDO:0019068 congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization skos:exactMatch SCTID:725592009 semapv:UnspecifiedMatching MONDO:0019068 congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization skos:exactMatch UMLS:C4511239 semapv:UnspecifiedMatching MONDO:0019071 pure hair and nail ectodermal dysplasia skos:exactMatch DOID:0111655 pure hair and nail ectodermal dysplasia semapv:UnspecifiedMatching MONDO:0019071 pure hair and nail ectodermal dysplasia skos:exactMatch MEDGEN:1875649 semapv:UnspecifiedMatching MONDO:0019071 pure hair and nail ectodermal dysplasia skos:exactMatch Orphanet:69084 Pure hair and nail ectodermal dysplasia semapv:UnspecifiedMatching MONDO:0019071 pure hair and nail ectodermal dysplasia skos:exactMatch UMLS:C5979821 semapv:UnspecifiedMatching MONDO:0019072 intrahepatic cholestasis skos:exactMatch DOID:1852 intrahepatic cholestasis semapv:UnspecifiedMatching MONDO:0019072 intrahepatic cholestasis skos:exactMatch MEDGEN:3042 semapv:UnspecifiedMatching MONDO:0019072 intrahepatic cholestasis skos:exactMatch SCTID:235888006 semapv:UnspecifiedMatching MONDO:0019072 intrahepatic cholestasis skos:exactMatch UMLS:C0008372 semapv:UnspecifiedMatching MONDO:0019072 intrahepatic cholestasis skos:exactMatch mesh:D002780 semapv:UnspecifiedMatching MONDO:0019073 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome skos:exactMatch DOID:0111360 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome semapv:UnspecifiedMatching MONDO:0019073 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome skos:exactMatch MEDGEN:1373459 semapv:UnspecifiedMatching MONDO:0019073 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome skos:exactMatch OMIM:137940 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome semapv:UnspecifiedMatching MONDO:0019073 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome skos:exactMatch UMLS:C4317151 semapv:UnspecifiedMatching MONDO:0019073 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome skos:exactMatch mesh:C536825 semapv:UnspecifiedMatching MONDO:0019074 bilateral acute depigmentation of the iris skos:exactMatch MEDGEN:929727 semapv:UnspecifiedMatching MONDO:0019074 bilateral acute depigmentation of the iris skos:exactMatch Orphanet:69736 Bilateral acute depigmentation of the iris semapv:UnspecifiedMatching MONDO:0019074 bilateral acute depigmentation of the iris skos:exactMatch SCTID:720460007 semapv:UnspecifiedMatching MONDO:0019074 bilateral acute depigmentation of the iris skos:exactMatch UMLS:C4304058 semapv:UnspecifiedMatching MONDO:0019075 Bosley-Salih-Alorainy syndrome skos:exactMatch MEDGEN:321908 semapv:UnspecifiedMatching MONDO:0019075 Bosley-Salih-Alorainy syndrome skos:exactMatch Orphanet:69737 Bosley-Salih-Alorainy syndrome semapv:UnspecifiedMatching MONDO:0019075 Bosley-Salih-Alorainy syndrome skos:exactMatch UMLS:C1832216 semapv:UnspecifiedMatching MONDO:0019075 Bosley-Salih-Alorainy syndrome skos:exactMatch icd11.foundation:1771217937 Bosley-Salih-Alorainy syndrome semapv:UnspecifiedMatching MONDO:0019076 circumscribed palmoplantar hypokeratosis skos:exactMatch MEDGEN:590662 semapv:UnspecifiedMatching MONDO:0019076 circumscribed palmoplantar hypokeratosis skos:exactMatch Orphanet:69744 Circumscribed palmoplantar hypokeratosis semapv:UnspecifiedMatching MONDO:0019076 circumscribed palmoplantar hypokeratosis skos:exactMatch UMLS:C0406762 semapv:UnspecifiedMatching MONDO:0019077 warty dyskeratoma skos:exactMatch MEDGEN:137717 semapv:UnspecifiedMatching MONDO:0019077 warty dyskeratoma skos:exactMatch NCIT:C4087 Warty Dyskeratoma semapv:UnspecifiedMatching MONDO:0019077 warty dyskeratoma skos:exactMatch Orphanet:69745 Warty dyskeratoma semapv:UnspecifiedMatching MONDO:0019077 warty dyskeratoma skos:exactMatch SCTID:254676008 semapv:UnspecifiedMatching MONDO:0019077 warty dyskeratoma skos:exactMatch UMLS:C0334063 semapv:UnspecifiedMatching MONDO:0019077 warty dyskeratoma skos:exactMatch icd11.foundation:1427186445 Warty dyskeratoma semapv:UnspecifiedMatching MONDO:0019078 Ritscher-Schinzel syndrome skos:exactMatch DOID:0060565 Ritscher-Schinzel syndrome semapv:UnspecifiedMatching MONDO:0019078 Ritscher-Schinzel syndrome skos:exactMatch MEDGEN:163220 semapv:UnspecifiedMatching MONDO:0019078 Ritscher-Schinzel syndrome skos:exactMatch OMIMPS:220210 Ritscher-Schinzel syndrome semapv:UnspecifiedMatching MONDO:0019078 Ritscher-Schinzel syndrome skos:exactMatch Orphanet:7 3C syndrome semapv:UnspecifiedMatching MONDO:0019078 Ritscher-Schinzel syndrome skos:exactMatch SCTID:718556007 semapv:UnspecifiedMatching MONDO:0019078 Ritscher-Schinzel syndrome skos:exactMatch UMLS:C0796137 semapv:UnspecifiedMatching MONDO:0019078 Ritscher-Schinzel syndrome skos:exactMatch mesh:C535313 semapv:UnspecifiedMatching MONDO:0019079 proximal spinal muscular atrophy skos:exactMatch MEDGEN:870510 semapv:UnspecifiedMatching MONDO:0019079 proximal spinal muscular atrophy skos:exactMatch Orphanet:70 Proximal spinal muscular atrophy semapv:UnspecifiedMatching MONDO:0019079 proximal spinal muscular atrophy skos:exactMatch UMLS:C4024957 semapv:UnspecifiedMatching MONDO:0019080 alopecia totalis skos:exactMatch MEDGEN:75525 semapv:UnspecifiedMatching MONDO:0019080 alopecia totalis skos:exactMatch Orphanet:700 Alopecia totalis semapv:UnspecifiedMatching MONDO:0019080 alopecia totalis skos:exactMatch SCTID:19754005 semapv:UnspecifiedMatching MONDO:0019080 alopecia totalis skos:exactMatch UMLS:C0263504 semapv:UnspecifiedMatching MONDO:0019080 alopecia totalis skos:exactMatch icd11.foundation:1633035058 Alopecia totalis semapv:UnspecifiedMatching MONDO:0019082 bullous pemphigoid skos:exactMatch DOID:8506 bullous pemphigoid semapv:UnspecifiedMatching MONDO:0019082 bullous pemphigoid skos:exactMatch EFO:0007187 semapv:UnspecifiedMatching MONDO:0019082 bullous pemphigoid skos:exactMatch ICD10CM:L12.0 Bullous pemphigoid semapv:UnspecifiedMatching MONDO:0019082 bullous pemphigoid skos:exactMatch MEDGEN:10620 semapv:UnspecifiedMatching MONDO:0019082 bullous pemphigoid skos:exactMatch NCIT:C84389 Bullous Pemphigoid semapv:UnspecifiedMatching MONDO:0019082 bullous pemphigoid skos:exactMatch Orphanet:703 Bullous pemphigoid semapv:UnspecifiedMatching MONDO:0019082 bullous pemphigoid skos:exactMatch SCTID:77090002 semapv:UnspecifiedMatching MONDO:0019082 bullous pemphigoid skos:exactMatch UMLS:C0030805 semapv:UnspecifiedMatching MONDO:0019082 bullous pemphigoid skos:exactMatch icd11.foundation:233308710 Bullous pemphigoid semapv:UnspecifiedMatching MONDO:0019082 bullous pemphigoid skos:exactMatch mesh:D010391 semapv:UnspecifiedMatching MONDO:0019083 Leigh syndrome with cardiomyopathy skos:exactMatch icd11.foundation:583594497 Leigh syndrome with cardiomyopathy semapv:UnspecifiedMatching MONDO:0019084 radiation proctitis skos:exactMatch ICD10CM:K62.7 Radiation proctitis semapv:UnspecifiedMatching MONDO:0019084 radiation proctitis skos:exactMatch MEDGEN:586421 semapv:UnspecifiedMatching MONDO:0019084 radiation proctitis skos:exactMatch Orphanet:70475 Radiation proctitis semapv:UnspecifiedMatching MONDO:0019084 radiation proctitis skos:exactMatch SCTID:235760009 semapv:UnspecifiedMatching MONDO:0019084 radiation proctitis skos:exactMatch UMLS:C0400827 semapv:UnspecifiedMatching MONDO:0019084 radiation proctitis skos:exactMatch icd11.foundation:177305885 Radiation proctitis semapv:UnspecifiedMatching MONDO:0019085 vernal keratoconjunctivitis skos:exactMatch MEDGEN:9622 semapv:UnspecifiedMatching MONDO:0019085 vernal keratoconjunctivitis skos:exactMatch Orphanet:70476 Vernal keratoconjunctivitis semapv:UnspecifiedMatching MONDO:0019085 vernal keratoconjunctivitis skos:exactMatch SCTID:317349009 semapv:UnspecifiedMatching MONDO:0019085 vernal keratoconjunctivitis skos:exactMatch UMLS:C0022577 semapv:UnspecifiedMatching MONDO:0019085 vernal keratoconjunctivitis skos:exactMatch icd11.foundation:670300288 Vernal keratoconjunctivitis semapv:UnspecifiedMatching MONDO:0019086 carcinoma of esophagus skos:exactMatch DOID:1107 esophageal carcinoma semapv:UnspecifiedMatching MONDO:0019086 carcinoma of esophagus skos:exactMatch EFO:0002916 semapv:UnspecifiedMatching MONDO:0019086 carcinoma of esophagus skos:exactMatch MEDGEN:56256 semapv:UnspecifiedMatching MONDO:0019086 carcinoma of esophagus skos:exactMatch NCIT:C3513 Esophageal Carcinoma semapv:UnspecifiedMatching MONDO:0019086 carcinoma of esophagus skos:exactMatch Orphanet:70482 Carcinoma of esophagus semapv:UnspecifiedMatching MONDO:0019086 carcinoma of esophagus skos:exactMatch SCTID:372138000 semapv:UnspecifiedMatching MONDO:0019086 carcinoma of esophagus skos:exactMatch UMLS:C0152018 semapv:UnspecifiedMatching MONDO:0019087 cholangiocarcinoma skos:exactMatch DOID:4947 cholangiocarcinoma semapv:UnspecifiedMatching MONDO:0019087 cholangiocarcinoma skos:exactMatch EFO:0005221 semapv:UnspecifiedMatching MONDO:0019087 cholangiocarcinoma skos:exactMatch MEDGEN:60210 semapv:UnspecifiedMatching MONDO:0019087 cholangiocarcinoma skos:exactMatch NCIT:C4436 Cholangiocarcinoma semapv:UnspecifiedMatching MONDO:0019087 cholangiocarcinoma skos:exactMatch Orphanet:70567 Cholangiocarcinoma semapv:UnspecifiedMatching MONDO:0019087 cholangiocarcinoma skos:exactMatch SCTID:312104005 semapv:UnspecifiedMatching MONDO:0019087 cholangiocarcinoma skos:exactMatch UMLS:C0206698 semapv:UnspecifiedMatching MONDO:0019087 cholangiocarcinoma skos:exactMatch icd11.foundation:2110597275 semapv:UnspecifiedMatching MONDO:0019087 cholangiocarcinoma skos:exactMatch mesh:D018281 semapv:UnspecifiedMatching MONDO:0019088 post-transplant lymphoproliferative disease skos:exactMatch ICD10CM:D47.Z1 Post-transplant lymphoproliferative disorder (PTLD) semapv:UnspecifiedMatching MONDO:0019088 post-transplant lymphoproliferative disease skos:exactMatch MEDGEN:98160 semapv:UnspecifiedMatching MONDO:0019088 post-transplant lymphoproliferative disease skos:exactMatch NCIT:C4727 Post-Transplant Lymphoproliferative Disorder semapv:UnspecifiedMatching MONDO:0019088 post-transplant lymphoproliferative disease skos:exactMatch Orphanet:70568 Post-transplant lymphoproliferative disease semapv:UnspecifiedMatching MONDO:0019088 post-transplant lymphoproliferative disease skos:exactMatch SCTID:254290004 semapv:UnspecifiedMatching MONDO:0019088 post-transplant lymphoproliferative disease skos:exactMatch UMLS:C0432487 semapv:UnspecifiedMatching MONDO:0019091 bronchopulmonary dysplasia skos:exactMatch DOID:11650 bronchopulmonary dysplasia semapv:UnspecifiedMatching MONDO:0019091 bronchopulmonary dysplasia skos:exactMatch MEDGEN:1864458 semapv:UnspecifiedMatching MONDO:0019091 bronchopulmonary dysplasia skos:exactMatch NCIT:C90599 Bronchopulmonary Dysplasia semapv:UnspecifiedMatching MONDO:0019091 bronchopulmonary dysplasia skos:exactMatch Orphanet:70589 Bronchopulmonary dysplasia semapv:UnspecifiedMatching MONDO:0019091 bronchopulmonary dysplasia skos:exactMatch SCTID:67569000 semapv:UnspecifiedMatching MONDO:0019091 bronchopulmonary dysplasia skos:exactMatch UMLS:C0495402 semapv:UnspecifiedMatching MONDO:0019091 bronchopulmonary dysplasia skos:exactMatch icd11.foundation:1462855296 Bronchopulmonary dysplasia originating in the perinatal period semapv:UnspecifiedMatching MONDO:0019091 bronchopulmonary dysplasia skos:exactMatch mesh:D001997 semapv:UnspecifiedMatching MONDO:0019092 infantile apnea skos:exactMatch MEDGEN:1378556 semapv:UnspecifiedMatching MONDO:0019092 infantile apnea skos:exactMatch Orphanet:70590 Infantile apnea semapv:UnspecifiedMatching MONDO:0019092 infantile apnea skos:exactMatch SCTID:724229002 semapv:UnspecifiedMatching MONDO:0019092 infantile apnea skos:exactMatch UMLS:C0745261 semapv:UnspecifiedMatching MONDO:0019093 immunodeficiency due to selective anti-polysaccharide antibody deficiency skos:exactMatch MEDGEN:1747183 semapv:UnspecifiedMatching MONDO:0019093 immunodeficiency due to selective anti-polysaccharide antibody deficiency skos:exactMatch Orphanet:70593 Immunodeficiency due to selective anti-polysaccharide antibody deficiency semapv:UnspecifiedMatching MONDO:0019093 immunodeficiency due to selective anti-polysaccharide antibody deficiency skos:exactMatch SCTID:234556002 semapv:UnspecifiedMatching MONDO:0019093 immunodeficiency due to selective anti-polysaccharide antibody deficiency skos:exactMatch UMLS:C5399780 semapv:UnspecifiedMatching MONDO:0019093 immunodeficiency due to selective anti-polysaccharide antibody deficiency skos:exactMatch icd11.foundation:849949348 Immunodeficiency due to selective anti-polysaccharide antibody deficiency semapv:UnspecifiedMatching MONDO:0019094 congenital Epstein-Barr virus infection skos:exactMatch MEDGEN:908580 semapv:UnspecifiedMatching MONDO:0019094 congenital Epstein-Barr virus infection skos:exactMatch Orphanet:70596 Congenital Epstein-Barr virus infection semapv:UnspecifiedMatching MONDO:0019094 congenital Epstein-Barr virus infection skos:exactMatch SCTID:716660007 semapv:UnspecifiedMatching MONDO:0019094 congenital Epstein-Barr virus infection skos:exactMatch UMLS:C4274357 semapv:UnspecifiedMatching MONDO:0019094 congenital Epstein-Barr virus infection skos:exactMatch icd11.foundation:1861788994 Congenital Epstein-Barr virus infection semapv:UnspecifiedMatching MONDO:0019095 plague skos:exactMatch DOID:3482 plague semapv:UnspecifiedMatching MONDO:0019095 plague skos:exactMatch EFO:0009425 semapv:UnspecifiedMatching MONDO:0019095 plague skos:exactMatch ICD10CM:A20 Plague semapv:UnspecifiedMatching MONDO:0019095 plague skos:exactMatch ICD10WHO:A20 Plague semapv:UnspecifiedMatching MONDO:0019095 plague skos:exactMatch MEDGEN:10785 semapv:UnspecifiedMatching MONDO:0019095 plague skos:exactMatch NCIT:C85015 Plague semapv:UnspecifiedMatching MONDO:0019095 plague skos:exactMatch Orphanet:707 Plague semapv:UnspecifiedMatching MONDO:0019095 plague skos:exactMatch SCTID:58750007 semapv:UnspecifiedMatching MONDO:0019095 plague skos:exactMatch UMLS:C0032064 semapv:UnspecifiedMatching MONDO:0019095 plague skos:exactMatch icd11.foundation:1596449540 Plague semapv:UnspecifiedMatching MONDO:0019095 plague skos:exactMatch mesh:D010930 semapv:UnspecifiedMatching MONDO:0019096 obsolete rare pulmonary hypertension skos:exactMatch Orphanet:71198 Rare pulmonary hypertension semapv:UnspecifiedMatching MONDO:0019097 obsolete hemorrhagic disorder due to a constitutional platelet anomaly skos:exactMatch Orphanet:71202 Rare hemorrhagic disorder due to a constitutional platelet anomaly semapv:UnspecifiedMatching MONDO:0019098 autoimmune thrombocytopenia skos:exactMatch MEDGEN:116621 semapv:UnspecifiedMatching MONDO:0019098 autoimmune thrombocytopenia skos:exactMatch Orphanet:71203 Autoimmune thrombocytopenia semapv:UnspecifiedMatching MONDO:0019098 autoimmune thrombocytopenia skos:exactMatch SCTID:128091003 semapv:UnspecifiedMatching MONDO:0019098 autoimmune thrombocytopenia skos:exactMatch UMLS:C0242584 semapv:UnspecifiedMatching MONDO:0019099 obsolete rare soft tissue tumor skos:exactMatch Orphanet:71209 Rare soft tissue tumor semapv:UnspecifiedMatching MONDO:0019100 neuromyelitis optica skos:exactMatch DOID:8869 neuromyelitis optica semapv:UnspecifiedMatching MONDO:0019100 neuromyelitis optica skos:exactMatch EFO:0004256 semapv:UnspecifiedMatching MONDO:0019100 neuromyelitis optica skos:exactMatch ICD10CM:G36.0 Neuromyelitis optica [Devic] semapv:UnspecifiedMatching MONDO:0019100 neuromyelitis optica skos:exactMatch MEDGEN:45063 semapv:UnspecifiedMatching MONDO:0019100 neuromyelitis optica skos:exactMatch NCIT:C84934 Neuromyelitis Optica semapv:UnspecifiedMatching MONDO:0019100 neuromyelitis optica skos:exactMatch Orphanet:71211 Neuromyelitis optica spectrum disorder semapv:UnspecifiedMatching MONDO:0019100 neuromyelitis optica skos:exactMatch SCTID:25044007 semapv:UnspecifiedMatching MONDO:0019100 neuromyelitis optica skos:exactMatch UMLS:C0027873 semapv:UnspecifiedMatching MONDO:0019100 neuromyelitis optica skos:exactMatch icd11.foundation:744293382 Neuromyelitis optica semapv:UnspecifiedMatching MONDO:0019100 neuromyelitis optica skos:exactMatch mesh:D009471 semapv:UnspecifiedMatching MONDO:0019101 retinal capillary malformation skos:exactMatch Orphanet:71213 Retinal capillary malformation semapv:UnspecifiedMatching MONDO:0019102 dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome skos:exactMatch MEDGEN:929261 semapv:UnspecifiedMatching MONDO:0019102 dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome skos:exactMatch Orphanet:71267 Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0019102 dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome skos:exactMatch SCTID:721089006 semapv:UnspecifiedMatching MONDO:0019102 dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome skos:exactMatch UMLS:C4303592 semapv:UnspecifiedMatching MONDO:0019103 benign exophthalmos syndrome skos:exactMatch MEDGEN:930337 semapv:UnspecifiedMatching MONDO:0019103 benign exophthalmos syndrome skos:exactMatch SCTID:719519007 semapv:UnspecifiedMatching MONDO:0019103 benign exophthalmos syndrome skos:exactMatch UMLS:C4304668 semapv:UnspecifiedMatching MONDO:0019103 benign exophthalmos syndrome skos:exactMatch icd11.foundation:1241377630 Benign exophthalmos syndrome semapv:UnspecifiedMatching MONDO:0019104 Sandifer syndrome skos:exactMatch MEDGEN:90922 semapv:UnspecifiedMatching MONDO:0019104 Sandifer syndrome skos:exactMatch NCIT:C113397 Sandifer's Syndrome semapv:UnspecifiedMatching MONDO:0019104 Sandifer syndrome skos:exactMatch Orphanet:71272 Sandifer syndrome semapv:UnspecifiedMatching MONDO:0019104 Sandifer syndrome skos:exactMatch SCTID:230314007 semapv:UnspecifiedMatching MONDO:0019104 Sandifer syndrome skos:exactMatch UMLS:C0338465 semapv:UnspecifiedMatching MONDO:0019104 Sandifer syndrome skos:exactMatch mesh:C537234 semapv:UnspecifiedMatching MONDO:0019105 renal nutcracker syndrome skos:exactMatch EFO:1001838 semapv:UnspecifiedMatching MONDO:0019105 renal nutcracker syndrome skos:exactMatch MEDGEN:465238 semapv:UnspecifiedMatching MONDO:0019105 renal nutcracker syndrome skos:exactMatch Orphanet:71273 Renal nutcracker syndrome semapv:UnspecifiedMatching MONDO:0019105 renal nutcracker syndrome skos:exactMatch SCTID:717267005 semapv:UnspecifiedMatching MONDO:0019105 renal nutcracker syndrome skos:exactMatch UMLS:C3178770 semapv:UnspecifiedMatching MONDO:0019105 renal nutcracker syndrome skos:exactMatch mesh:D059228 semapv:UnspecifiedMatching MONDO:0019107 Rh deficiency syndrome skos:exactMatch DOID:0050641 Rh deficiency syndrome semapv:UnspecifiedMatching MONDO:0019107 Rh deficiency syndrome skos:exactMatch MEDGEN:75772 semapv:UnspecifiedMatching MONDO:0019107 Rh deficiency syndrome skos:exactMatch OMIM:268150 rh-null, regulator type semapv:UnspecifiedMatching MONDO:0019107 Rh deficiency syndrome skos:exactMatch Orphanet:71275 Rh deficiency syndrome semapv:UnspecifiedMatching MONDO:0019107 Rh deficiency syndrome skos:exactMatch SCTID:37272000 semapv:UnspecifiedMatching MONDO:0019107 Rh deficiency syndrome skos:exactMatch UMLS:C0272052 semapv:UnspecifiedMatching MONDO:0019107 Rh deficiency syndrome skos:exactMatch icd11.foundation:1554765420 Rh deficiency syndrome semapv:UnspecifiedMatching MONDO:0019107 Rh deficiency syndrome skos:exactMatch mesh:C562717 semapv:UnspecifiedMatching MONDO:0019108 silent sinus syndrome skos:exactMatch MEDGEN:785359 semapv:UnspecifiedMatching MONDO:0019108 silent sinus syndrome skos:exactMatch Orphanet:71276 Silent sinus syndrome semapv:UnspecifiedMatching MONDO:0019108 silent sinus syndrome skos:exactMatch SCTID:699802009 semapv:UnspecifiedMatching MONDO:0019108 silent sinus syndrome skos:exactMatch UMLS:C3698095 semapv:UnspecifiedMatching MONDO:0019108 silent sinus syndrome skos:exactMatch icd11.foundation:1204931989 Silent sinus syndrome semapv:UnspecifiedMatching MONDO:0019109 CANOMAD syndrome skos:exactMatch MEDGEN:419872 semapv:UnspecifiedMatching MONDO:0019109 CANOMAD syndrome skos:exactMatch Orphanet:71279 CANOMAD syndrome semapv:UnspecifiedMatching MONDO:0019109 CANOMAD syndrome skos:exactMatch SCTID:715624006 semapv:UnspecifiedMatching MONDO:0019109 CANOMAD syndrome skos:exactMatch UMLS:C2931684 semapv:UnspecifiedMatching MONDO:0019109 CANOMAD syndrome skos:exactMatch mesh:C537980 semapv:UnspecifiedMatching MONDO:0019110 obsolete rare central nervous system or retinal vascular disease skos:exactMatch Orphanet:71281 Rare central nervous system and retinal vascular disease semapv:UnspecifiedMatching MONDO:0019111 familial thrombocytosis skos:exactMatch MEDGEN:929430 semapv:UnspecifiedMatching MONDO:0019111 familial thrombocytosis skos:exactMatch OMIMPS:187950 Thrombocythemia semapv:UnspecifiedMatching MONDO:0019111 familial thrombocytosis skos:exactMatch Orphanet:71493 Familial thrombocytosis semapv:UnspecifiedMatching MONDO:0019111 familial thrombocytosis skos:exactMatch SCTID:720950009 semapv:UnspecifiedMatching MONDO:0019111 familial thrombocytosis skos:exactMatch UMLS:C4303761 semapv:UnspecifiedMatching MONDO:0019111 familial thrombocytosis skos:exactMatch icd11.foundation:1695088249 Congenital thrombocytosis semapv:UnspecifiedMatching MONDO:0019112 cancer-associated retinopathy skos:exactMatch MEDGEN:729915 semapv:UnspecifiedMatching MONDO:0019112 cancer-associated retinopathy skos:exactMatch Orphanet:71505 Cancer-associated retinopathy semapv:UnspecifiedMatching MONDO:0019112 cancer-associated retinopathy skos:exactMatch SCTID:404663008 semapv:UnspecifiedMatching MONDO:0019112 cancer-associated retinopathy skos:exactMatch UMLS:C1321315 semapv:UnspecifiedMatching MONDO:0019112 cancer-associated retinopathy skos:exactMatch icd11.foundation:1216073790 Paraneoplastic retinopathy semapv:UnspecifiedMatching MONDO:0019112 cancer-associated retinopathy skos:exactMatch mesh:D059545 semapv:UnspecifiedMatching MONDO:0019113 benign paroxysmal torticollis of infancy skos:exactMatch MEDGEN:782128 semapv:UnspecifiedMatching MONDO:0019113 benign paroxysmal torticollis of infancy skos:exactMatch Orphanet:71518 Benign paroxysmal torticollis of infancy semapv:UnspecifiedMatching MONDO:0019113 benign paroxysmal torticollis of infancy skos:exactMatch SCTID:719521002 semapv:UnspecifiedMatching MONDO:0019113 benign paroxysmal torticollis of infancy skos:exactMatch UMLS:C3494934 semapv:UnspecifiedMatching MONDO:0019113 benign paroxysmal torticollis of infancy skos:exactMatch icd11.foundation:545726308 Benign paroxysmal torticollis of infancy semapv:UnspecifiedMatching MONDO:0019114 psychogenic movement disorders skos:exactMatch MEDGEN:155722 semapv:UnspecifiedMatching MONDO:0019114 psychogenic movement disorders skos:exactMatch Orphanet:71519 Psychogenic movement disorders semapv:UnspecifiedMatching MONDO:0019114 psychogenic movement disorders skos:exactMatch UMLS:C0752208 semapv:UnspecifiedMatching MONDO:0019114 psychogenic movement disorders skos:exactMatch icd11.foundation:1905355308 Psychogenic movement disorders semapv:UnspecifiedMatching MONDO:0019115 obesity due to melanocortin 4 receptor deficiency skos:exactMatch MEDGEN:903905 semapv:UnspecifiedMatching MONDO:0019115 obesity due to melanocortin 4 receptor deficiency skos:exactMatch NCIT:C120394 Melanocortin 4 Receptor Deficiency semapv:UnspecifiedMatching MONDO:0019115 obesity due to melanocortin 4 receptor deficiency skos:exactMatch Orphanet:71529 Obesity due to melanocortin 4 receptor deficiency semapv:UnspecifiedMatching MONDO:0019115 obesity due to melanocortin 4 receptor deficiency skos:exactMatch SCTID:717269008 semapv:UnspecifiedMatching MONDO:0019115 obesity due to melanocortin 4 receptor deficiency skos:exactMatch UMLS:C4273958 semapv:UnspecifiedMatching MONDO:0019116 obsolete catecholamine-producing tumor skos:exactMatch Orphanet:717 OBSOLETE: Catecholamine-producing tumor semapv:UnspecifiedMatching MONDO:0019117 obsolete genetic nervous system disorder skos:exactMatch Orphanet:71859 Rare genetic neurological disorder semapv:UnspecifiedMatching MONDO:0019118 inherited retinal dystrophy skos:exactMatch DOID:8500 hereditary retinal dystrophy semapv:UnspecifiedMatching MONDO:0019118 inherited retinal dystrophy skos:exactMatch DOID:8501 fundus dystrophy semapv:UnspecifiedMatching MONDO:0019118 inherited retinal dystrophy skos:exactMatch ICD10CM:H35.5 Hereditary retinal dystrophy semapv:UnspecifiedMatching MONDO:0019118 inherited retinal dystrophy skos:exactMatch MEDGEN:208903 semapv:UnspecifiedMatching MONDO:0019118 inherited retinal dystrophy skos:exactMatch NCIT:C35194 Hereditary Retinal Dystrophy semapv:UnspecifiedMatching MONDO:0019118 inherited retinal dystrophy skos:exactMatch NCIT:C35625 Retinal Dystrophy semapv:UnspecifiedMatching MONDO:0019118 inherited retinal dystrophy skos:exactMatch Orphanet:71862 Inherited retinal disorder semapv:UnspecifiedMatching MONDO:0019118 inherited retinal dystrophy skos:exactMatch SCTID:314407005 semapv:UnspecifiedMatching MONDO:0019118 inherited retinal dystrophy skos:exactMatch SCTID:41799005 semapv:UnspecifiedMatching MONDO:0019118 inherited retinal dystrophy skos:exactMatch UMLS:C0854723 semapv:UnspecifiedMatching MONDO:0019118 inherited retinal dystrophy skos:exactMatch mesh:D058499 semapv:UnspecifiedMatching MONDO:0019119 muscular channelopathy skos:exactMatch MEDGEN:1842600 semapv:UnspecifiedMatching MONDO:0019119 muscular channelopathy skos:exactMatch Orphanet:71864 Muscular channelopathy semapv:UnspecifiedMatching MONDO:0019119 muscular channelopathy skos:exactMatch UMLS:C5681306 semapv:UnspecifiedMatching MONDO:0019120 pili bifurcati skos:exactMatch MEDGEN:1812698 semapv:UnspecifiedMatching MONDO:0019120 pili bifurcati skos:exactMatch Orphanet:720 Pili bifurcati semapv:UnspecifiedMatching MONDO:0019120 pili bifurcati skos:exactMatch SCTID:717360009 semapv:UnspecifiedMatching MONDO:0019120 pili bifurcati skos:exactMatch UMLS:C5574653 semapv:UnspecifiedMatching MONDO:0019120 pili bifurcati skos:exactMatch icd11.foundation:674923489 Pili bifurcati semapv:UnspecifiedMatching MONDO:0019121 pneumocystosis skos:exactMatch DOID:11339 pneumocystosis semapv:UnspecifiedMatching MONDO:0019121 pneumocystosis skos:exactMatch EFO:0007448 semapv:UnspecifiedMatching MONDO:0019121 pneumocystosis skos:exactMatch ICD10CM:B59 Pneumocystosis semapv:UnspecifiedMatching MONDO:0019121 pneumocystosis skos:exactMatch MEDGEN:777048 semapv:UnspecifiedMatching MONDO:0019121 pneumocystosis skos:exactMatch NCIT:C3334 Pneumocystis Pneumonia semapv:UnspecifiedMatching MONDO:0019121 pneumocystosis skos:exactMatch Orphanet:723 Pneumocystosis semapv:UnspecifiedMatching MONDO:0019121 pneumocystosis skos:exactMatch SCTID:415125002 semapv:UnspecifiedMatching MONDO:0019121 pneumocystosis skos:exactMatch UMLS:C1535939 semapv:UnspecifiedMatching MONDO:0019121 pneumocystosis skos:exactMatch icd11.foundation:404370038 Pneumocystosis semapv:UnspecifiedMatching MONDO:0019121 pneumocystosis skos:exactMatch mesh:D011020 semapv:UnspecifiedMatching MONDO:0019122 idiopathic acute eosinophilic pneumonia skos:exactMatch DOID:9503 Loeffler syndrome semapv:UnspecifiedMatching MONDO:0019122 idiopathic acute eosinophilic pneumonia skos:exactMatch MEDGEN:1371970 semapv:UnspecifiedMatching MONDO:0019122 idiopathic acute eosinophilic pneumonia skos:exactMatch NCIT:C35301 Loffler Syndrome semapv:UnspecifiedMatching MONDO:0019122 idiopathic acute eosinophilic pneumonia skos:exactMatch Orphanet:724 Idiopathic acute eosinophilic pneumonia semapv:UnspecifiedMatching MONDO:0019122 idiopathic acute eosinophilic pneumonia skos:exactMatch SCTID:64936001 semapv:UnspecifiedMatching MONDO:0019122 idiopathic acute eosinophilic pneumonia skos:exactMatch UMLS:C4518469 semapv:UnspecifiedMatching MONDO:0019122 idiopathic acute eosinophilic pneumonia skos:exactMatch icd11.foundation:1455309767 Idiopathic acute eosinophilic pneumonitis semapv:UnspecifiedMatching MONDO:0019124 microscopic polyangiitis skos:exactMatch EFO:1000784 semapv:UnspecifiedMatching MONDO:0019124 microscopic polyangiitis skos:exactMatch ICD10CM:M31.7 Microscopic polyangiitis semapv:UnspecifiedMatching MONDO:0019124 microscopic polyangiitis skos:exactMatch MEDGEN:389393 semapv:UnspecifiedMatching MONDO:0019124 microscopic polyangiitis skos:exactMatch NCIT:C70549 Microscopic Polyarteritis semapv:UnspecifiedMatching MONDO:0019124 microscopic polyangiitis skos:exactMatch Orphanet:727 Microscopic polyangiitis semapv:UnspecifiedMatching MONDO:0019124 microscopic polyangiitis skos:exactMatch SCTID:239928004 semapv:UnspecifiedMatching MONDO:0019124 microscopic polyangiitis skos:exactMatch UMLS:C2347126 semapv:UnspecifiedMatching MONDO:0019124 microscopic polyangiitis skos:exactMatch icd11.foundation:999231798 Microscopic polyangiitis semapv:UnspecifiedMatching MONDO:0019124 microscopic polyangiitis skos:exactMatch mesh:D055953 semapv:UnspecifiedMatching MONDO:0019125 relapsing polychondritis skos:exactMatch DOID:2556 relapsing polychondritis semapv:UnspecifiedMatching MONDO:0019125 relapsing polychondritis skos:exactMatch EFO:1001148 semapv:UnspecifiedMatching MONDO:0019125 relapsing polychondritis skos:exactMatch ICD10CM:M94.1 Relapsing polychondritis semapv:UnspecifiedMatching MONDO:0019125 relapsing polychondritis skos:exactMatch MEDGEN:45995 semapv:UnspecifiedMatching MONDO:0019125 relapsing polychondritis skos:exactMatch NCIT:C157268 Relapsing Polychondritis semapv:UnspecifiedMatching MONDO:0019125 relapsing polychondritis skos:exactMatch Orphanet:728 Relapsing polychondritis semapv:UnspecifiedMatching MONDO:0019125 relapsing polychondritis skos:exactMatch SCTID:72275000 semapv:UnspecifiedMatching MONDO:0019125 relapsing polychondritis skos:exactMatch UMLS:C0032453 semapv:UnspecifiedMatching MONDO:0019125 relapsing polychondritis skos:exactMatch icd11.foundation:1412888287 Relapsing polychondritis semapv:UnspecifiedMatching MONDO:0019125 relapsing polychondritis skos:exactMatch mesh:D011081 semapv:UnspecifiedMatching MONDO:0019126 obsolete intractable diarrhea of infancy skos:exactMatch Orphanet:73014 Intractable diarrhea of infancy semapv:UnspecifiedMatching MONDO:0019127 polymyositis skos:exactMatch DOID:0080745 polymyositis semapv:UnspecifiedMatching MONDO:0019127 polymyositis skos:exactMatch EFO:0003063 semapv:UnspecifiedMatching MONDO:0019127 polymyositis skos:exactMatch ICD10CM:M33.2 Polymyositis semapv:UnspecifiedMatching MONDO:0019127 polymyositis skos:exactMatch MEDGEN:39086 semapv:UnspecifiedMatching MONDO:0019127 polymyositis skos:exactMatch NCIT:C26925 Polymyositis semapv:UnspecifiedMatching MONDO:0019127 polymyositis skos:exactMatch Orphanet:732 Polymyositis semapv:UnspecifiedMatching MONDO:0019127 polymyositis skos:exactMatch SCTID:31384009 semapv:UnspecifiedMatching MONDO:0019127 polymyositis skos:exactMatch UMLS:C0085655 semapv:UnspecifiedMatching MONDO:0019127 polymyositis skos:exactMatch icd11.foundation:1157134196 Polymyositis semapv:UnspecifiedMatching MONDO:0019127 polymyositis skos:exactMatch mesh:D017285 semapv:UnspecifiedMatching MONDO:0019128 mullerian aplasia skos:exactMatch MEDGEN:98466 semapv:UnspecifiedMatching MONDO:0019128 mullerian aplasia skos:exactMatch Orphanet:73217 Müllerian aplasia semapv:UnspecifiedMatching MONDO:0019128 mullerian aplasia skos:exactMatch SCTID:253828000 semapv:UnspecifiedMatching MONDO:0019128 mullerian aplasia skos:exactMatch UMLS:C0431637 semapv:UnspecifiedMatching MONDO:0019128 mullerian aplasia skos:exactMatch mesh:C537371 semapv:UnspecifiedMatching MONDO:0019129 global developmental delay-osteopenia-ectodermal defect syndrome skos:exactMatch MEDGEN:929239 semapv:UnspecifiedMatching MONDO:0019129 global developmental delay-osteopenia-ectodermal defect syndrome skos:exactMatch Orphanet:73223 Global developmental delay-osteopenia-ectodermal defect syndrome semapv:UnspecifiedMatching MONDO:0019129 global developmental delay-osteopenia-ectodermal defect syndrome skos:exactMatch SCTID:717813005 semapv:UnspecifiedMatching MONDO:0019129 global developmental delay-osteopenia-ectodermal defect syndrome skos:exactMatch UMLS:C4303570 semapv:UnspecifiedMatching MONDO:0019130 tubular renal disease-cardiomyopathy syndrome skos:exactMatch MEDGEN:930068 semapv:UnspecifiedMatching MONDO:0019130 tubular renal disease-cardiomyopathy syndrome skos:exactMatch Orphanet:73224 Kidney tubulopathy-dilated cardiomyopathy syndrome semapv:UnspecifiedMatching MONDO:0019130 tubular renal disease-cardiomyopathy syndrome skos:exactMatch UMLS:C4304399 semapv:UnspecifiedMatching MONDO:0019131 ossification anomalies-psychomotor developmental delay syndrome skos:exactMatch MEDGEN:928495 semapv:UnspecifiedMatching MONDO:0019131 ossification anomalies-psychomotor developmental delay syndrome skos:exactMatch Orphanet:73230 Ossification anomalies-psychomotor developmental delay syndrome semapv:UnspecifiedMatching MONDO:0019131 ossification anomalies-psychomotor developmental delay syndrome skos:exactMatch UMLS:C4302826 semapv:UnspecifiedMatching MONDO:0019132 spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome skos:exactMatch MEDGEN:1393821 semapv:UnspecifiedMatching MONDO:0019132 spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome skos:exactMatch Orphanet:73245 Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome semapv:UnspecifiedMatching MONDO:0019132 spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome skos:exactMatch UMLS:C4509964 semapv:UnspecifiedMatching MONDO:0019133 visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome skos:exactMatch MEDGEN:930071 semapv:UnspecifiedMatching MONDO:0019133 visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome skos:exactMatch Orphanet:73246 Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome semapv:UnspecifiedMatching MONDO:0019133 visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome skos:exactMatch UMLS:C4304402 semapv:UnspecifiedMatching MONDO:0019134 central neurocytoma skos:exactMatch DOID:14174 central neurocytoma semapv:UnspecifiedMatching MONDO:0019134 central neurocytoma skos:exactMatch MEDGEN:104924 semapv:UnspecifiedMatching MONDO:0019134 central neurocytoma skos:exactMatch NCIT:C3791 Central Neurocytoma semapv:UnspecifiedMatching MONDO:0019134 central neurocytoma skos:exactMatch Orphanet:73256 Central neurocytoma semapv:UnspecifiedMatching MONDO:0019134 central neurocytoma skos:exactMatch UMLS:C0206719 semapv:UnspecifiedMatching MONDO:0019134 central neurocytoma skos:exactMatch icd11.foundation:1247650801 Central neurocytoma of brain semapv:UnspecifiedMatching MONDO:0019134 central neurocytoma skos:exactMatch icd11.foundation:2039766091 semapv:UnspecifiedMatching MONDO:0019134 central neurocytoma skos:exactMatch mesh:D018306 semapv:UnspecifiedMatching MONDO:0019136 Zygomycosis skos:exactMatch DOID:8485 mucormycosis semapv:UnspecifiedMatching MONDO:0019136 Zygomycosis skos:exactMatch EFO:0007380 semapv:UnspecifiedMatching MONDO:0019136 Zygomycosis skos:exactMatch ICD10CM:B46 Zygomycosis semapv:UnspecifiedMatching MONDO:0019136 Zygomycosis skos:exactMatch ICD10WHO:B46 Zygomycosis semapv:UnspecifiedMatching MONDO:0019136 Zygomycosis skos:exactMatch MEDGEN:12207 semapv:UnspecifiedMatching MONDO:0019136 Zygomycosis skos:exactMatch NCIT:C77212 Zygomycosis semapv:UnspecifiedMatching MONDO:0019136 Zygomycosis skos:exactMatch Orphanet:73263 Zygomycosis semapv:UnspecifiedMatching MONDO:0019136 Zygomycosis skos:exactMatch SCTID:59277005 semapv:UnspecifiedMatching MONDO:0019136 Zygomycosis skos:exactMatch SCTID:76627001 semapv:UnspecifiedMatching MONDO:0019136 Zygomycosis skos:exactMatch UMLS:C0043541 semapv:UnspecifiedMatching MONDO:0019136 Zygomycosis skos:exactMatch icd11.foundation:1676389165 Mucormycosis semapv:UnspecifiedMatching MONDO:0019136 Zygomycosis skos:exactMatch mesh:D020096 semapv:UnspecifiedMatching MONDO:0019137 non-24-hour sleep-wake syndrome skos:exactMatch ICD10CM:G47.24 Circadian rhythm sleep disorder, free running type semapv:UnspecifiedMatching MONDO:0019137 non-24-hour sleep-wake syndrome skos:exactMatch MEDGEN:148383 semapv:UnspecifiedMatching MONDO:0019137 non-24-hour sleep-wake syndrome skos:exactMatch Orphanet:73267 Non-24-hour sleep-wake syndrome semapv:UnspecifiedMatching MONDO:0019137 non-24-hour sleep-wake syndrome skos:exactMatch SCTID:230496009 semapv:UnspecifiedMatching MONDO:0019137 non-24-hour sleep-wake syndrome skos:exactMatch UMLS:C0751759 semapv:UnspecifiedMatching MONDO:0019138 obsolete bleeding diathesis due to a collagen receptor defect skos:exactMatch Orphanet:73271 Bleeding diathesis due to a collagen receptor defect semapv:UnspecifiedMatching MONDO:0019139 acquired hemophilia skos:exactMatch ICD10CM:D68.311 Acquired hemophilia semapv:UnspecifiedMatching MONDO:0019139 acquired hemophilia skos:exactMatch MEDGEN:204253 semapv:UnspecifiedMatching MONDO:0019139 acquired hemophilia skos:exactMatch UMLS:C1096116 semapv:UnspecifiedMatching MONDO:0019140 acute ackee fruit intoxication skos:exactMatch Orphanet:73423 Acute ackee fruit intoxication semapv:UnspecifiedMatching MONDO:0019140 acute ackee fruit intoxication skos:exactMatch SCTID:49434001 semapv:UnspecifiedMatching MONDO:0019140 acute ackee fruit intoxication skos:exactMatch mesh:C537562 semapv:UnspecifiedMatching MONDO:0019141 porokeratosis of Mibelli skos:exactMatch MEDGEN:181842 semapv:UnspecifiedMatching MONDO:0019141 porokeratosis of Mibelli skos:exactMatch Orphanet:735 Porokeratosis of Mibelli semapv:UnspecifiedMatching MONDO:0019141 porokeratosis of Mibelli skos:exactMatch SCTID:80432009 semapv:UnspecifiedMatching MONDO:0019141 porokeratosis of Mibelli skos:exactMatch UMLS:C0949506 semapv:UnspecifiedMatching MONDO:0019142 inherited porphyria skos:exactMatch DOID:13268 porphyria semapv:UnspecifiedMatching MONDO:0019142 inherited porphyria skos:exactMatch MEDGEN:698423 semapv:UnspecifiedMatching MONDO:0019142 inherited porphyria skos:exactMatch Orphanet:738 Porphyria semapv:UnspecifiedMatching MONDO:0019142 inherited porphyria skos:exactMatch SCTID:371628009 semapv:UnspecifiedMatching MONDO:0019142 inherited porphyria skos:exactMatch UMLS:C1275125 semapv:UnspecifiedMatching MONDO:0019143 angiostrongyliasis skos:exactMatch DOID:0050256 angiostrongyliasis semapv:UnspecifiedMatching MONDO:0019143 angiostrongyliasis skos:exactMatch MEDGEN:98230 semapv:UnspecifiedMatching MONDO:0019143 angiostrongyliasis skos:exactMatch NCIT:C128394 Angiostrongyliasis semapv:UnspecifiedMatching MONDO:0019143 angiostrongyliasis skos:exactMatch Orphanet:74 Angiostrongyliasis semapv:UnspecifiedMatching MONDO:0019143 angiostrongyliasis skos:exactMatch SCTID:61750000 semapv:UnspecifiedMatching MONDO:0019143 angiostrongyliasis skos:exactMatch UMLS:C0392662 semapv:UnspecifiedMatching MONDO:0019143 angiostrongyliasis skos:exactMatch icd11.foundation:1768378720 Angiostrongyliasis semapv:UnspecifiedMatching MONDO:0019143 angiostrongyliasis skos:exactMatch mesh:C536369 semapv:UnspecifiedMatching MONDO:0019144 hereditary thrombophilia due to congenital protein S deficiency skos:exactMatch DOID:0111905 autosomal recessive thrombophilia due to protein S deficiency semapv:UnspecifiedMatching MONDO:0019144 hereditary thrombophilia due to congenital protein S deficiency skos:exactMatch MEDGEN:748876 semapv:UnspecifiedMatching MONDO:0019144 hereditary thrombophilia due to congenital protein S deficiency skos:exactMatch Orphanet:743 Severe hereditary thrombophilia due to congenital protein S deficiency semapv:UnspecifiedMatching MONDO:0019144 hereditary thrombophilia due to congenital protein S deficiency skos:exactMatch UMLS:C2584611 semapv:UnspecifiedMatching MONDO:0019144 hereditary thrombophilia due to congenital protein S deficiency skos:exactMatch icd11.foundation:1305244529 Hereditary thrombophilia due to congenital protein S deficiency semapv:UnspecifiedMatching MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency skos:exactMatch DOID:3756 protein C deficiency semapv:UnspecifiedMatching MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency skos:exactMatch MEDGEN:671121 semapv:UnspecifiedMatching MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency skos:exactMatch NCIT:C99025 Protein C Deficiency Disease semapv:UnspecifiedMatching MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency skos:exactMatch Orphanet:745 Severe hereditary thrombophilia due to congenital protein C deficiency semapv:UnspecifiedMatching MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency skos:exactMatch SCTID:76407009 semapv:UnspecifiedMatching MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency skos:exactMatch UMLS:C0598221 semapv:UnspecifiedMatching MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency skos:exactMatch icd11.foundation:2021932081 Hereditary thrombophilia due to congenital protein C deficiency semapv:UnspecifiedMatching MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency skos:exactMatch mesh:C535424 semapv:UnspecifiedMatching MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency skos:exactMatch mesh:D020151 semapv:UnspecifiedMatching MONDO:0019146 inherited susceptibility to mycobacterial diseases skos:exactMatch MEDGEN:473805 semapv:UnspecifiedMatching MONDO:0019146 inherited susceptibility to mycobacterial diseases skos:exactMatch Orphanet:748 Mendelian susceptibility to mycobacterial diseases semapv:UnspecifiedMatching MONDO:0019146 inherited susceptibility to mycobacterial diseases skos:exactMatch UMLS:C3266863 semapv:UnspecifiedMatching MONDO:0019147 myiasis skos:exactMatch DOID:11080 myiasis semapv:UnspecifiedMatching MONDO:0019147 myiasis skos:exactMatch EFO:0007389 semapv:UnspecifiedMatching MONDO:0019147 myiasis skos:exactMatch ICD10CM:B87 Myiasis semapv:UnspecifiedMatching MONDO:0019147 myiasis skos:exactMatch ICD10WHO:B87 Myiasis semapv:UnspecifiedMatching MONDO:0019147 myiasis skos:exactMatch MEDGEN:10148 semapv:UnspecifiedMatching MONDO:0019147 myiasis skos:exactMatch NCIT:C128400 Myiasis semapv:UnspecifiedMatching MONDO:0019147 myiasis skos:exactMatch Orphanet:75110 Myiasis semapv:UnspecifiedMatching MONDO:0019147 myiasis skos:exactMatch SCTID:60412004 semapv:UnspecifiedMatching MONDO:0019147 myiasis skos:exactMatch UMLS:C0027030 semapv:UnspecifiedMatching MONDO:0019147 myiasis skos:exactMatch icd11.foundation:1367149207 Myiasis semapv:UnspecifiedMatching MONDO:0019147 myiasis skos:exactMatch mesh:D009198 semapv:UnspecifiedMatching MONDO:0019148 Wolman disease skos:exactMatch DOID:14497 Wolman disease semapv:UnspecifiedMatching MONDO:0019148 Wolman disease skos:exactMatch MEDGEN:53088 semapv:UnspecifiedMatching MONDO:0019148 Wolman disease skos:exactMatch NCIT:C61271 Wolman Disease semapv:UnspecifiedMatching MONDO:0019148 Wolman disease skos:exactMatch OMIM:620151 wolman disease semapv:UnspecifiedMatching MONDO:0019148 Wolman disease skos:exactMatch Orphanet:75233 Wolman disease semapv:UnspecifiedMatching MONDO:0019148 Wolman disease skos:exactMatch SCTID:238074007 semapv:UnspecifiedMatching MONDO:0019148 Wolman disease skos:exactMatch SCTID:82500001 semapv:UnspecifiedMatching MONDO:0019148 Wolman disease skos:exactMatch UMLS:C0043208 semapv:UnspecifiedMatching MONDO:0019148 Wolman disease skos:exactMatch icd11.foundation:520367511 Wolman disease semapv:UnspecifiedMatching MONDO:0019148 Wolman disease skos:exactMatch mesh:C564736 semapv:UnspecifiedMatching MONDO:0019148 Wolman disease skos:exactMatch mesh:D015223 semapv:UnspecifiedMatching MONDO:0019149 cholesteryl ester storage disease skos:exactMatch DOID:14502 cholesterol ester storage disease semapv:UnspecifiedMatching MONDO:0019149 cholesteryl ester storage disease skos:exactMatch MEDGEN:40266 semapv:UnspecifiedMatching MONDO:0019149 cholesteryl ester storage disease skos:exactMatch OMIM:278000 cholesteryl ester storage disease semapv:UnspecifiedMatching MONDO:0019149 cholesteryl ester storage disease skos:exactMatch Orphanet:75234 Cholesteryl ester storage disease semapv:UnspecifiedMatching MONDO:0019149 cholesteryl ester storage disease skos:exactMatch SCTID:57218003 semapv:UnspecifiedMatching MONDO:0019149 cholesteryl ester storage disease skos:exactMatch UMLS:C0008384 semapv:UnspecifiedMatching MONDO:0019149 cholesteryl ester storage disease skos:exactMatch icd11.foundation:894336362 Cholesteryl ester storage disease semapv:UnspecifiedMatching MONDO:0019150 obsolete familial isolated restrictive cardiomyopathy skos:exactMatch Orphanet:75249 Familial isolated restrictive cardiomyopathy semapv:UnspecifiedMatching MONDO:0019151 oligocone trichromacy skos:exactMatch MEDGEN:928545 semapv:UnspecifiedMatching MONDO:0019151 oligocone trichromacy skos:exactMatch Orphanet:75378 Oligocone trichromacy semapv:UnspecifiedMatching MONDO:0019151 oligocone trichromacy skos:exactMatch SCTID:722066001 semapv:UnspecifiedMatching MONDO:0019151 oligocone trichromacy skos:exactMatch UMLS:C4302876 semapv:UnspecifiedMatching MONDO:0019151 oligocone trichromacy skos:exactMatch icd11.foundation:645985320 Oligocone trichromacy semapv:UnspecifiedMatching MONDO:0019152 Oguchi disease skos:exactMatch MEDGEN:224927 semapv:UnspecifiedMatching MONDO:0019152 Oguchi disease skos:exactMatch Orphanet:75382 Oguchi disease semapv:UnspecifiedMatching MONDO:0019152 Oguchi disease skos:exactMatch UMLS:C1306122 semapv:UnspecifiedMatching MONDO:0019152 Oguchi disease skos:exactMatch icd11.foundation:1759055065 Oguchi disease semapv:UnspecifiedMatching MONDO:0019152 Oguchi disease skos:exactMatch mesh:C537743 semapv:UnspecifiedMatching MONDO:0019153 brain malformation-congenital heart disease-postaxial polydactyly syndrome skos:exactMatch MEDGEN:929214 semapv:UnspecifiedMatching MONDO:0019153 brain malformation-congenital heart disease-postaxial polydactyly syndrome skos:exactMatch Orphanet:75389 Brain malformation-congenital heart disease-postaxial polydactyly syndrome semapv:UnspecifiedMatching MONDO:0019153 brain malformation-congenital heart disease-postaxial polydactyly syndrome skos:exactMatch SCTID:717943008 semapv:UnspecifiedMatching MONDO:0019153 brain malformation-congenital heart disease-postaxial polydactyly syndrome skos:exactMatch UMLS:C4303545 semapv:UnspecifiedMatching MONDO:0019154 androgen insensitivity syndrome skos:exactMatch DOID:4674 androgen insensitivity syndrome semapv:UnspecifiedMatching MONDO:0019154 androgen insensitivity syndrome skos:exactMatch ICD10CM:E34.5 Androgen insensitivity syndrome semapv:UnspecifiedMatching MONDO:0019154 androgen insensitivity syndrome skos:exactMatch MEDGEN:21102 semapv:UnspecifiedMatching MONDO:0019154 androgen insensitivity syndrome skos:exactMatch NCIT:C27226 Androgen Insensitivity Syndrome semapv:UnspecifiedMatching MONDO:0019154 androgen insensitivity syndrome skos:exactMatch OMIM:300068 androgen insensitivity syndrome semapv:UnspecifiedMatching MONDO:0019154 androgen insensitivity syndrome skos:exactMatch Orphanet:754 Androgen insensitivity syndrome semapv:UnspecifiedMatching MONDO:0019154 androgen insensitivity syndrome skos:exactMatch SCTID:12313004 semapv:UnspecifiedMatching MONDO:0019154 androgen insensitivity syndrome skos:exactMatch UMLS:C0039585 semapv:UnspecifiedMatching MONDO:0019154 androgen insensitivity syndrome skos:exactMatch mesh:D013734 semapv:UnspecifiedMatching MONDO:0019155 Leydig cell hypoplasia skos:exactMatch DOID:0112259 Leydig cell hypoplasia semapv:UnspecifiedMatching MONDO:0019155 Leydig cell hypoplasia skos:exactMatch MEDGEN:449533 semapv:UnspecifiedMatching MONDO:0019155 Leydig cell hypoplasia skos:exactMatch Orphanet:755 Leydig cell hypoplasia semapv:UnspecifiedMatching MONDO:0019155 Leydig cell hypoplasia skos:exactMatch UMLS:C0860158 semapv:UnspecifiedMatching MONDO:0019155 Leydig cell hypoplasia skos:exactMatch icd11.foundation:472787488 Leydig cell hypoplasia semapv:UnspecifiedMatching MONDO:0019155 Leydig cell hypoplasia skos:exactMatch mesh:C562567 semapv:UnspecifiedMatching MONDO:0019156 angioosteohypotrophic syndrome skos:exactMatch MEDGEN:1641209 semapv:UnspecifiedMatching MONDO:0019156 angioosteohypotrophic syndrome skos:exactMatch Orphanet:75508 Angioosteohypotrophic syndrome semapv:UnspecifiedMatching MONDO:0019156 angioosteohypotrophic syndrome skos:exactMatch SCTID:765750001 semapv:UnspecifiedMatching MONDO:0019156 angioosteohypotrophic syndrome skos:exactMatch UMLS:C4707561 semapv:UnspecifiedMatching MONDO:0019157 myelodysplastic syndrome with ring sideroblasts skos:exactMatch EFO:0003812 semapv:UnspecifiedMatching MONDO:0019157 myelodysplastic syndrome with ring sideroblasts skos:exactMatch ICD10CM:D46.1 Refractory anemia with ring sideroblasts semapv:UnspecifiedMatching MONDO:0019157 myelodysplastic syndrome with ring sideroblasts skos:exactMatch MEDGEN:865038 semapv:UnspecifiedMatching MONDO:0019157 myelodysplastic syndrome with ring sideroblasts skos:exactMatch NCIT:C4036 Myelodysplastic Syndrome with Ring Sideroblasts semapv:UnspecifiedMatching MONDO:0019157 myelodysplastic syndrome with ring sideroblasts skos:exactMatch Orphanet:75564 Acquired idiopathic sideroblastic anemia semapv:UnspecifiedMatching MONDO:0019157 myelodysplastic syndrome with ring sideroblasts skos:exactMatch SCTID:109998009 semapv:UnspecifiedMatching MONDO:0019157 myelodysplastic syndrome with ring sideroblasts skos:exactMatch UMLS:C4016601 semapv:UnspecifiedMatching MONDO:0019157 myelodysplastic syndrome with ring sideroblasts skos:exactMatch icd11.foundation:1793160341 Refractory anaemia with ring sideroblasts semapv:UnspecifiedMatching MONDO:0019158 tropical endomyocardial fibrosis skos:exactMatch MEDGEN:909153 semapv:UnspecifiedMatching MONDO:0019158 tropical endomyocardial fibrosis skos:exactMatch Orphanet:75565 Tropical endomyocardial fibrosis semapv:UnspecifiedMatching MONDO:0019158 tropical endomyocardial fibrosis skos:exactMatch SCTID:715626008 semapv:UnspecifiedMatching MONDO:0019158 tropical endomyocardial fibrosis skos:exactMatch UMLS:C2882252 semapv:UnspecifiedMatching MONDO:0019159 Loeffler endocarditis skos:exactMatch DOID:396 Loeffler endocarditis semapv:UnspecifiedMatching MONDO:0019159 Loeffler endocarditis skos:exactMatch MEDGEN:104788 semapv:UnspecifiedMatching MONDO:0019159 Loeffler endocarditis skos:exactMatch NCIT:C27044 Eosinophilic Endomyocardial Disease semapv:UnspecifiedMatching MONDO:0019159 Loeffler endocarditis skos:exactMatch Orphanet:75566 Loeffler endocarditis semapv:UnspecifiedMatching MONDO:0019159 Loeffler endocarditis skos:exactMatch SCTID:449829009 semapv:UnspecifiedMatching MONDO:0019159 Loeffler endocarditis skos:exactMatch UMLS:C0206143 semapv:UnspecifiedMatching MONDO:0019159 Loeffler endocarditis skos:exactMatch icd11.foundation:1223390562 Loeffler endocarditis semapv:UnspecifiedMatching MONDO:0019160 primary progressive freezing gait skos:exactMatch MEDGEN:894846 semapv:UnspecifiedMatching MONDO:0019160 primary progressive freezing gait skos:exactMatch Orphanet:75567 Primary progressive freezing gait semapv:UnspecifiedMatching MONDO:0019160 primary progressive freezing gait skos:exactMatch SCTID:715627004 semapv:UnspecifiedMatching MONDO:0019160 primary progressive freezing gait skos:exactMatch UMLS:C4275078 semapv:UnspecifiedMatching MONDO:0019160 primary progressive freezing gait skos:exactMatch icd11.foundation:431694225 Primary progressive freezing gait semapv:UnspecifiedMatching MONDO:0019161 pseudohypoaldosteronism type 1 skos:exactMatch MEDGEN:82805 semapv:UnspecifiedMatching MONDO:0019161 pseudohypoaldosteronism type 1 skos:exactMatch NCIT:C123251 Pseudohypoaldosteronism Type 1 semapv:UnspecifiedMatching MONDO:0019161 pseudohypoaldosteronism type 1 skos:exactMatch OMIMPS:177735 Pseudohypoaldosteronism, type I semapv:UnspecifiedMatching MONDO:0019161 pseudohypoaldosteronism type 1 skos:exactMatch Orphanet:756 Pseudohypoaldosteronism type 1 semapv:UnspecifiedMatching MONDO:0019161 pseudohypoaldosteronism type 1 skos:exactMatch SCTID:43941006 semapv:UnspecifiedMatching MONDO:0019161 pseudohypoaldosteronism type 1 skos:exactMatch UMLS:C0268436 semapv:UnspecifiedMatching MONDO:0019161 pseudohypoaldosteronism type 1 skos:exactMatch icd11.foundation:1576878036 Pseudohypoaldosteronism type 1 semapv:UnspecifiedMatching MONDO:0019162 pseudohypoaldosteronism type 2 skos:exactMatch MEDGEN:259599 semapv:UnspecifiedMatching MONDO:0019162 pseudohypoaldosteronism type 2 skos:exactMatch NCIT:C123252 Pseudohypoaldosteronism Type 2 semapv:UnspecifiedMatching MONDO:0019162 pseudohypoaldosteronism type 2 skos:exactMatch OMIMPS:145260 Pseudohypoaldosteronism, type II semapv:UnspecifiedMatching MONDO:0019162 pseudohypoaldosteronism type 2 skos:exactMatch Orphanet:757 Pseudohypoaldosteronism type 2 semapv:UnspecifiedMatching MONDO:0019162 pseudohypoaldosteronism type 2 skos:exactMatch SCTID:15689008 semapv:UnspecifiedMatching MONDO:0019162 pseudohypoaldosteronism type 2 skos:exactMatch UMLS:C1449844 semapv:UnspecifiedMatching MONDO:0019162 pseudohypoaldosteronism type 2 skos:exactMatch icd11.foundation:715347509 Pseudohypoaldosteronism type 2 semapv:UnspecifiedMatching MONDO:0019164 6q terminal deletion syndrome skos:exactMatch MEDGEN:930183 semapv:UnspecifiedMatching MONDO:0019164 6q terminal deletion syndrome skos:exactMatch Orphanet:75857 6q terminal deletion syndrome semapv:UnspecifiedMatching MONDO:0019164 6q terminal deletion syndrome skos:exactMatch SCTID:719666002 semapv:UnspecifiedMatching MONDO:0019164 6q terminal deletion syndrome skos:exactMatch UMLS:C4304514 semapv:UnspecifiedMatching MONDO:0019165 central precocious puberty skos:exactMatch DOID:0112308 central precocious puberty semapv:UnspecifiedMatching MONDO:0019165 central precocious puberty skos:exactMatch EFO:0009029 semapv:UnspecifiedMatching MONDO:0019165 central precocious puberty skos:exactMatch MEDGEN:90985 semapv:UnspecifiedMatching MONDO:0019165 central precocious puberty skos:exactMatch OMIMPS:176400 Precocious puberty, central semapv:UnspecifiedMatching MONDO:0019165 central precocious puberty skos:exactMatch Orphanet:650063 Rare central precocious puberty semapv:UnspecifiedMatching MONDO:0019165 central precocious puberty skos:exactMatch SCTID:237816004 semapv:UnspecifiedMatching MONDO:0019165 central precocious puberty skos:exactMatch UMLS:C0342543 semapv:UnspecifiedMatching MONDO:0019165 central precocious puberty skos:exactMatch icd11.foundation:1749914533 Central precocious puberty semapv:UnspecifiedMatching MONDO:0019165 central precocious puberty skos:exactMatch mesh:C562787 semapv:UnspecifiedMatching MONDO:0019167 immunoglobulin A vasculitis skos:exactMatch DOID:11123 IgA vasculitis semapv:UnspecifiedMatching MONDO:0019167 immunoglobulin A vasculitis skos:exactMatch ICD10CM:D69.0 Allergic purpura semapv:UnspecifiedMatching MONDO:0019167 immunoglobulin A vasculitis skos:exactMatch MEDGEN:48265 semapv:UnspecifiedMatching MONDO:0019167 immunoglobulin A vasculitis skos:exactMatch NCIT:C34963 Henoch-Schönlein Purpura semapv:UnspecifiedMatching MONDO:0019167 immunoglobulin A vasculitis skos:exactMatch Orphanet:761 Immunoglobulin A vasculitis semapv:UnspecifiedMatching MONDO:0019167 immunoglobulin A vasculitis skos:exactMatch SCTID:191306005 semapv:UnspecifiedMatching MONDO:0019167 immunoglobulin A vasculitis skos:exactMatch SCTID:86074002 semapv:UnspecifiedMatching MONDO:0019167 immunoglobulin A vasculitis skos:exactMatch UMLS:C0034152 semapv:UnspecifiedMatching MONDO:0019167 immunoglobulin A vasculitis skos:exactMatch icd11.foundation:1629105375 IgA vasculitis semapv:UnspecifiedMatching MONDO:0019167 immunoglobulin A vasculitis skos:exactMatch mesh:D011695 semapv:UnspecifiedMatching MONDO:0019168 pyomyositis skos:exactMatch DOID:876 pyomyositis semapv:UnspecifiedMatching MONDO:0019168 pyomyositis skos:exactMatch EFO:1001409 semapv:UnspecifiedMatching MONDO:0019168 pyomyositis skos:exactMatch MEDGEN:52862 semapv:UnspecifiedMatching MONDO:0019168 pyomyositis skos:exactMatch NCIT:C128382 Pyomyositis semapv:UnspecifiedMatching MONDO:0019168 pyomyositis skos:exactMatch Orphanet:764 Pyomyositis semapv:UnspecifiedMatching MONDO:0019168 pyomyositis skos:exactMatch SCTID:65110003 semapv:UnspecifiedMatching MONDO:0019168 pyomyositis skos:exactMatch UMLS:C0041188 semapv:UnspecifiedMatching MONDO:0019168 pyomyositis skos:exactMatch icd11.foundation:856598467 Pyomyositis semapv:UnspecifiedMatching MONDO:0019168 pyomyositis skos:exactMatch mesh:D052880 semapv:UnspecifiedMatching MONDO:0019169 pyruvate dehydrogenase deficiency skos:exactMatch DOID:3649 pyruvate decarboxylase deficiency semapv:UnspecifiedMatching MONDO:0019169 pyruvate dehydrogenase deficiency skos:exactMatch MEDGEN:19610 semapv:UnspecifiedMatching MONDO:0019169 pyruvate dehydrogenase deficiency skos:exactMatch NCIT:C103968 Pyruvate Dehydrogenase Deficiency semapv:UnspecifiedMatching MONDO:0019169 pyruvate dehydrogenase deficiency skos:exactMatch OMIMPS:312170 Pyruvate dehydrogenase complex deficiency semapv:UnspecifiedMatching MONDO:0019169 pyruvate dehydrogenase deficiency skos:exactMatch Orphanet:765 Pyruvate dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0019169 pyruvate dehydrogenase deficiency skos:exactMatch SCTID:46683007 semapv:UnspecifiedMatching MONDO:0019169 pyruvate dehydrogenase deficiency skos:exactMatch UMLS:C0034345 semapv:UnspecifiedMatching MONDO:0019169 pyruvate dehydrogenase deficiency skos:exactMatch icd11.foundation:1124597954 Pyruvate dehydrogenase complex deficiency semapv:UnspecifiedMatching MONDO:0019170 polyarteritis nodosa skos:exactMatch DOID:9810 polyarteritis nodosa semapv:UnspecifiedMatching MONDO:0019170 polyarteritis nodosa skos:exactMatch ICD10CM:M30.0 Polyarteritis nodosa semapv:UnspecifiedMatching MONDO:0019170 polyarteritis nodosa skos:exactMatch MEDGEN:14681 semapv:UnspecifiedMatching MONDO:0019170 polyarteritis nodosa skos:exactMatch NCIT:C26847 Polyarteritis Nodosa semapv:UnspecifiedMatching MONDO:0019170 polyarteritis nodosa skos:exactMatch Orphanet:767 Polyarteritis nodosa semapv:UnspecifiedMatching MONDO:0019170 polyarteritis nodosa skos:exactMatch SCTID:155441006 semapv:UnspecifiedMatching MONDO:0019170 polyarteritis nodosa skos:exactMatch UMLS:C0031036 semapv:UnspecifiedMatching MONDO:0019170 polyarteritis nodosa skos:exactMatch icd11.foundation:1419332129 Polyarteritis nodosa semapv:UnspecifiedMatching MONDO:0019170 polyarteritis nodosa skos:exactMatch mesh:D010488 semapv:UnspecifiedMatching MONDO:0019171 familial long QT syndrome skos:exactMatch MEDGEN:685787 semapv:UnspecifiedMatching MONDO:0019171 familial long QT syndrome skos:exactMatch OMIMPS:192500 Long QT syndrome semapv:UnspecifiedMatching MONDO:0019171 familial long QT syndrome skos:exactMatch Orphanet:101016 Romano-Ward syndrome semapv:UnspecifiedMatching MONDO:0019171 familial long QT syndrome skos:exactMatch Orphanet:768 Congenital long QT syndrome semapv:UnspecifiedMatching MONDO:0019171 familial long QT syndrome skos:exactMatch SCTID:442917000 semapv:UnspecifiedMatching MONDO:0019171 familial long QT syndrome skos:exactMatch UMLS:C1141890 semapv:UnspecifiedMatching MONDO:0019171 familial long QT syndrome skos:exactMatch icd11.foundation:1208831985 Long QT syndrome semapv:UnspecifiedMatching MONDO:0019172 aniridia skos:exactMatch DOID:12271 aniridia semapv:UnspecifiedMatching MONDO:0019172 aniridia skos:exactMatch ICD10CM:Q13.1 Absence of iris semapv:UnspecifiedMatching MONDO:0019172 aniridia skos:exactMatch MEDGEN:1941 semapv:UnspecifiedMatching MONDO:0019172 aniridia skos:exactMatch NCIT:C84563 Aniridia semapv:UnspecifiedMatching MONDO:0019172 aniridia skos:exactMatch SCTID:69278003 semapv:UnspecifiedMatching MONDO:0019172 aniridia skos:exactMatch UMLS:C0003076 semapv:UnspecifiedMatching MONDO:0019172 aniridia skos:exactMatch icd11.foundation:970699895 Aniridia semapv:UnspecifiedMatching MONDO:0019172 aniridia skos:exactMatch mesh:D015783 semapv:UnspecifiedMatching MONDO:0019173 rabies skos:exactMatch DOID:11260 rabies semapv:UnspecifiedMatching MONDO:0019173 rabies skos:exactMatch ICD10CM:A82 Rabies semapv:UnspecifiedMatching MONDO:0019173 rabies skos:exactMatch ICD10WHO:A82 Rabies semapv:UnspecifiedMatching MONDO:0019173 rabies skos:exactMatch MEDGEN:48308 semapv:UnspecifiedMatching MONDO:0019173 rabies skos:exactMatch NCIT:C28182 Rabies semapv:UnspecifiedMatching MONDO:0019173 rabies skos:exactMatch Orphanet:770 Rabies semapv:UnspecifiedMatching MONDO:0019173 rabies skos:exactMatch SCTID:14168008 semapv:UnspecifiedMatching MONDO:0019173 rabies skos:exactMatch UMLS:C0034494 semapv:UnspecifiedMatching MONDO:0019173 rabies skos:exactMatch icd11.foundation:854762584 Rabies semapv:UnspecifiedMatching MONDO:0019173 rabies skos:exactMatch mesh:D011818 semapv:UnspecifiedMatching MONDO:0019174 obsolete infantile Refsum disease skos:exactMatch DOID:0050444 infantile Refsum disease semapv:UnspecifiedMatching MONDO:0019174 obsolete infantile Refsum disease skos:exactMatch NCIT:C84789 Infantile Refsum Disease semapv:UnspecifiedMatching MONDO:0019174 obsolete infantile Refsum disease skos:exactMatch SCTID:238062008 semapv:UnspecifiedMatching MONDO:0019174 obsolete infantile Refsum disease skos:exactMatch mesh:D052919 semapv:UnspecifiedMatching MONDO:0019175 primary lymphedema skos:exactMatch MEDGEN:1804666 semapv:UnspecifiedMatching MONDO:0019175 primary lymphedema skos:exactMatch NCIT:C48829 Primary Lymphedema semapv:UnspecifiedMatching MONDO:0019175 primary lymphedema skos:exactMatch Orphanet:77240 Primary lymphedema semapv:UnspecifiedMatching MONDO:0019175 primary lymphedema skos:exactMatch UMLS:C5576443 semapv:UnspecifiedMatching MONDO:0019175 primary lymphedema skos:exactMatch icd11.foundation:794588197 Primary lymphoedema semapv:UnspecifiedMatching MONDO:0019177 odontoleukodystrophy skos:exactMatch MEDGEN:502456 semapv:UnspecifiedMatching MONDO:0019177 odontoleukodystrophy skos:exactMatch Orphanet:77295 Odontoleukodystrophy semapv:UnspecifiedMatching MONDO:0019177 odontoleukodystrophy skos:exactMatch SCTID:722064003 semapv:UnspecifiedMatching MONDO:0019177 odontoleukodystrophy skos:exactMatch UMLS:C3502054 semapv:UnspecifiedMatching MONDO:0019178 auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome skos:exactMatch MEDGEN:1378358 semapv:UnspecifiedMatching MONDO:0019178 auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome skos:exactMatch Orphanet:77300 Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome semapv:UnspecifiedMatching MONDO:0019178 auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome skos:exactMatch UMLS:C4518478 semapv:UnspecifiedMatching MONDO:0019179 monosomy 9q22.3 skos:exactMatch MEDGEN:777998 semapv:UnspecifiedMatching MONDO:0019179 monosomy 9q22.3 skos:exactMatch Orphanet:77301 Monosomy 9q22.3 syndrome semapv:UnspecifiedMatching MONDO:0019179 monosomy 9q22.3 skos:exactMatch SCTID:724098008 semapv:UnspecifiedMatching MONDO:0019179 monosomy 9q22.3 skos:exactMatch UMLS:C3711390 semapv:UnspecifiedMatching MONDO:0019179 monosomy 9q22.3 skos:exactMatch mesh:C579873 semapv:UnspecifiedMatching MONDO:0019180 hereditary hemorrhagic telangiectasia skos:exactMatch DOID:1270 hereditary hemorrhagic telangiectasia semapv:UnspecifiedMatching MONDO:0019180 hereditary hemorrhagic telangiectasia skos:exactMatch ICD10CM:I78.0 Hereditary hemorrhagic telangiectasia semapv:UnspecifiedMatching MONDO:0019180 hereditary hemorrhagic telangiectasia skos:exactMatch MEDGEN:52657 semapv:UnspecifiedMatching MONDO:0019180 hereditary hemorrhagic telangiectasia skos:exactMatch NCIT:C35064 Hereditary Hemorrhagic Telangiectasia semapv:UnspecifiedMatching MONDO:0019180 hereditary hemorrhagic telangiectasia skos:exactMatch OMIMPS:187300 Telangiectasia, hereditary hemorrhagic (see also primary pulmonary hypertension ({PS178600}) semapv:UnspecifiedMatching MONDO:0019180 hereditary hemorrhagic telangiectasia skos:exactMatch Orphanet:774 Hereditary hemorrhagic telangiectasia semapv:UnspecifiedMatching MONDO:0019180 hereditary hemorrhagic telangiectasia skos:exactMatch SCTID:21877004 semapv:UnspecifiedMatching MONDO:0019180 hereditary hemorrhagic telangiectasia skos:exactMatch UMLS:C0039445 semapv:UnspecifiedMatching MONDO:0019180 hereditary hemorrhagic telangiectasia skos:exactMatch icd11.foundation:714406192 Hereditary haemorrhagic telangiectasia semapv:UnspecifiedMatching MONDO:0019180 hereditary hemorrhagic telangiectasia skos:exactMatch mesh:D013683 semapv:UnspecifiedMatching MONDO:0019181 non-syndromic X-linked intellectual disability skos:exactMatch DOID:0050776 non-syndromic X-linked intellectual disability semapv:UnspecifiedMatching MONDO:0019181 non-syndromic X-linked intellectual disability skos:exactMatch MEDGEN:502019 semapv:UnspecifiedMatching MONDO:0019181 non-syndromic X-linked intellectual disability skos:exactMatch OMIMPS:309530 Intellectual developmental disorder, nonsyndromic, X-linked semapv:UnspecifiedMatching MONDO:0019181 non-syndromic X-linked intellectual disability skos:exactMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:UnspecifiedMatching MONDO:0019181 non-syndromic X-linked intellectual disability skos:exactMatch UMLS:C3501611 semapv:UnspecifiedMatching MONDO:0019181 non-syndromic X-linked intellectual disability skos:exactMatch mesh:C564490 semapv:UnspecifiedMatching MONDO:0019182 inherited obesity skos:exactMatch MEDGEN:885912 semapv:UnspecifiedMatching MONDO:0019182 inherited obesity skos:exactMatch OMIM:601665 obesity semapv:UnspecifiedMatching MONDO:0019182 inherited obesity skos:exactMatch Orphanet:77828 Genetic obesity semapv:UnspecifiedMatching MONDO:0019182 inherited obesity skos:exactMatch UMLS:C4054476 semapv:UnspecifiedMatching MONDO:0019183 obsolete inherited odontologic disease skos:exactMatch Orphanet:77830 Rare genetic odontologic disease semapv:UnspecifiedMatching MONDO:0019186 Q fever skos:exactMatch DOID:11100 Q fever semapv:UnspecifiedMatching MONDO:0019186 Q fever skos:exactMatch EFO:0005224 semapv:UnspecifiedMatching MONDO:0019186 Q fever skos:exactMatch ICD10CM:A78 Q fever semapv:UnspecifiedMatching MONDO:0019186 Q fever skos:exactMatch ICD10WHO:A78 Q fever semapv:UnspecifiedMatching MONDO:0019186 Q fever skos:exactMatch MEDGEN:48290 semapv:UnspecifiedMatching MONDO:0019186 Q fever skos:exactMatch NCIT:C34970 Q Fever semapv:UnspecifiedMatching MONDO:0019186 Q fever skos:exactMatch Orphanet:781 Q fever semapv:UnspecifiedMatching MONDO:0019186 Q fever skos:exactMatch SCTID:186788009 semapv:UnspecifiedMatching MONDO:0019186 Q fever skos:exactMatch UMLS:C0034362 semapv:UnspecifiedMatching MONDO:0019186 Q fever skos:exactMatch icd11.foundation:2113860626 Q fever semapv:UnspecifiedMatching MONDO:0019186 Q fever skos:exactMatch mesh:D011778 semapv:UnspecifiedMatching MONDO:0019187 Axenfeld-Rieger syndrome skos:exactMatch DOID:14686 Axenfeld-Rieger syndrome semapv:UnspecifiedMatching MONDO:0019187 Axenfeld-Rieger syndrome skos:exactMatch MEDGEN:501192 semapv:UnspecifiedMatching MONDO:0019187 Axenfeld-Rieger syndrome skos:exactMatch NCIT:C131001 Rieger Syndrome semapv:UnspecifiedMatching MONDO:0019187 Axenfeld-Rieger syndrome skos:exactMatch OMIMPS:180500 Axenfeld-Rieger syndrome semapv:UnspecifiedMatching MONDO:0019187 Axenfeld-Rieger syndrome skos:exactMatch Orphanet:782 Axenfeld-Rieger syndrome semapv:UnspecifiedMatching MONDO:0019187 Axenfeld-Rieger syndrome skos:exactMatch SCTID:47507006 semapv:UnspecifiedMatching MONDO:0019187 Axenfeld-Rieger syndrome skos:exactMatch UMLS:C3495488 semapv:UnspecifiedMatching MONDO:0019187 Axenfeld-Rieger syndrome skos:exactMatch mesh:C535679 semapv:UnspecifiedMatching MONDO:0019188 Rubinstein-Taybi syndrome skos:exactMatch DOID:1933 Rubinstein-Taybi syndrome semapv:UnspecifiedMatching MONDO:0019188 Rubinstein-Taybi syndrome skos:exactMatch MEDGEN:48517 semapv:UnspecifiedMatching MONDO:0019188 Rubinstein-Taybi syndrome skos:exactMatch NCIT:C75466 Rubinstein-Taybi Syndrome semapv:UnspecifiedMatching MONDO:0019188 Rubinstein-Taybi syndrome skos:exactMatch OMIMPS:180849 Rubinstein-Taybi syndrome semapv:UnspecifiedMatching MONDO:0019188 Rubinstein-Taybi syndrome skos:exactMatch Orphanet:783 Rubinstein-Taybi syndrome semapv:UnspecifiedMatching MONDO:0019188 Rubinstein-Taybi syndrome skos:exactMatch SCTID:45582004 semapv:UnspecifiedMatching MONDO:0019188 Rubinstein-Taybi syndrome skos:exactMatch UMLS:C0035934 semapv:UnspecifiedMatching MONDO:0019188 Rubinstein-Taybi syndrome skos:exactMatch icd11.foundation:692585833 Rubinstein-Taybi syndrome semapv:UnspecifiedMatching MONDO:0019188 Rubinstein-Taybi syndrome skos:exactMatch mesh:D012415 semapv:UnspecifiedMatching MONDO:0019189 inborn disorder of amino acid and other organic acid metabolism skos:exactMatch MEDGEN:575169 semapv:UnspecifiedMatching MONDO:0019189 inborn disorder of amino acid and other organic acid metabolism skos:exactMatch Orphanet:79062 Disorder of amino acid and other organic acid metabolism semapv:UnspecifiedMatching MONDO:0019189 inborn disorder of amino acid and other organic acid metabolism skos:exactMatch SCTID:237911005 semapv:UnspecifiedMatching MONDO:0019189 inborn disorder of amino acid and other organic acid metabolism skos:exactMatch UMLS:C0342666 semapv:UnspecifiedMatching MONDO:0019190 juvenile polyposis of infancy skos:exactMatch MEDGEN:1778573 semapv:UnspecifiedMatching MONDO:0019190 juvenile polyposis of infancy skos:exactMatch Orphanet:79076 Juvenile polyposis of infancy semapv:UnspecifiedMatching MONDO:0019190 juvenile polyposis of infancy skos:exactMatch UMLS:C5445164 semapv:UnspecifiedMatching MONDO:0019190 juvenile polyposis of infancy skos:exactMatch icd11.foundation:378686036 Juvenile polyposis of infancy semapv:UnspecifiedMatching MONDO:0019191 IgG4-related dacryoadenitis and sialadenitis skos:exactMatch DOID:12900 Mikulicz disease semapv:UnspecifiedMatching MONDO:0019191 IgG4-related dacryoadenitis and sialadenitis skos:exactMatch MEDGEN:6399 semapv:UnspecifiedMatching MONDO:0019191 IgG4-related dacryoadenitis and sialadenitis skos:exactMatch NCIT:C34819 Mikulicz Disease semapv:UnspecifiedMatching MONDO:0019191 IgG4-related dacryoadenitis and sialadenitis skos:exactMatch Orphanet:79078 IgG4-related dacryoadenitis and sialadenitis semapv:UnspecifiedMatching MONDO:0019191 IgG4-related dacryoadenitis and sialadenitis skos:exactMatch SCTID:7826003 semapv:UnspecifiedMatching MONDO:0019191 IgG4-related dacryoadenitis and sialadenitis skos:exactMatch UMLS:C0026103 semapv:UnspecifiedMatching MONDO:0019191 IgG4-related dacryoadenitis and sialadenitis skos:exactMatch icd11.foundation:796087277 IgG4-related dacryoadenitis and sialadenitis semapv:UnspecifiedMatching MONDO:0019191 IgG4-related dacryoadenitis and sialadenitis skos:exactMatch mesh:D008882 semapv:UnspecifiedMatching MONDO:0019192 AKT2-related familial partial lipodystrophy skos:exactMatch MEDGEN:1810936 semapv:UnspecifiedMatching MONDO:0019192 AKT2-related familial partial lipodystrophy skos:exactMatch Orphanet:79085 AKT2-related familial partial lipodystrophy semapv:UnspecifiedMatching MONDO:0019192 AKT2-related familial partial lipodystrophy skos:exactMatch UMLS:C5680134 semapv:UnspecifiedMatching MONDO:0019193 acquired generalized lipodystrophy skos:exactMatch DOID:0080300 acquired generalized lipodystrophy semapv:UnspecifiedMatching MONDO:0019193 acquired generalized lipodystrophy skos:exactMatch MEDGEN:543499 semapv:UnspecifiedMatching MONDO:0019193 acquired generalized lipodystrophy skos:exactMatch NCIT:C131089 Acquired Generalized Lipodystrophy semapv:UnspecifiedMatching MONDO:0019193 acquired generalized lipodystrophy skos:exactMatch Orphanet:79086 Acquired generalized lipodystrophy semapv:UnspecifiedMatching MONDO:0019193 acquired generalized lipodystrophy skos:exactMatch SCTID:86907008 semapv:UnspecifiedMatching MONDO:0019193 acquired generalized lipodystrophy skos:exactMatch UMLS:C0271693 semapv:UnspecifiedMatching MONDO:0019194 localized lipodystrophy skos:exactMatch MEDGEN:1385527 semapv:UnspecifiedMatching MONDO:0019194 localized lipodystrophy skos:exactMatch NCIT:C131814 Focal Lipodystrophy semapv:UnspecifiedMatching MONDO:0019194 localized lipodystrophy skos:exactMatch Orphanet:79088 Localized lipodystrophy semapv:UnspecifiedMatching MONDO:0019194 localized lipodystrophy skos:exactMatch UMLS:C4329999 semapv:UnspecifiedMatching MONDO:0019195 hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome skos:exactMatch MEDGEN:1382737 semapv:UnspecifiedMatching MONDO:0019195 hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome skos:exactMatch Orphanet:79091 Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome semapv:UnspecifiedMatching MONDO:0019195 hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome skos:exactMatch SCTID:724349009 semapv:UnspecifiedMatching MONDO:0019195 hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome skos:exactMatch UMLS:C4510610 semapv:UnspecifiedMatching MONDO:0019196 Foix-Alajouanine syndrome skos:exactMatch MEDGEN:141629 semapv:UnspecifiedMatching MONDO:0019196 Foix-Alajouanine syndrome skos:exactMatch Orphanet:79093 Foix-Alajouanine syndrome semapv:UnspecifiedMatching MONDO:0019196 Foix-Alajouanine syndrome skos:exactMatch SCTID:230379007 semapv:UnspecifiedMatching MONDO:0019196 Foix-Alajouanine syndrome skos:exactMatch UMLS:C0472347 semapv:UnspecifiedMatching MONDO:0019196 Foix-Alajouanine syndrome skos:exactMatch icd11.foundation:937824238 Subacute necrotising myelitis semapv:UnspecifiedMatching MONDO:0019197 folinic acid-responsive seizures skos:exactMatch MEDGEN:908191 semapv:UnspecifiedMatching MONDO:0019197 folinic acid-responsive seizures skos:exactMatch Orphanet:79097 Folinic acid-responsive seizures semapv:UnspecifiedMatching MONDO:0019197 folinic acid-responsive seizures skos:exactMatch SCTID:717276003 semapv:UnspecifiedMatching MONDO:0019197 folinic acid-responsive seizures skos:exactMatch UMLS:C4273952 semapv:UnspecifiedMatching MONDO:0019197 folinic acid-responsive seizures skos:exactMatch icd11.foundation:723504178 Folinic acid-responsive seizures semapv:UnspecifiedMatching MONDO:0019198 sympathetic ophthalmia skos:exactMatch DOID:12029 sympathetic ophthalmia semapv:UnspecifiedMatching MONDO:0019198 sympathetic ophthalmia skos:exactMatch EFO:1001205 semapv:UnspecifiedMatching MONDO:0019198 sympathetic ophthalmia skos:exactMatch ICD10CM:H44.13 Sympathetic uveitis semapv:UnspecifiedMatching MONDO:0019198 sympathetic ophthalmia skos:exactMatch MEDGEN:45203 semapv:UnspecifiedMatching MONDO:0019198 sympathetic ophthalmia skos:exactMatch Orphanet:79098 Sympathetic ophthalmia semapv:UnspecifiedMatching MONDO:0019198 sympathetic ophthalmia skos:exactMatch SCTID:75315001 semapv:UnspecifiedMatching MONDO:0019198 sympathetic ophthalmia skos:exactMatch UMLS:C0029077 semapv:UnspecifiedMatching MONDO:0019198 sympathetic ophthalmia skos:exactMatch icd11.foundation:1639718137 Sympathetic Ophthalmia semapv:UnspecifiedMatching MONDO:0019198 sympathetic ophthalmia skos:exactMatch mesh:D009879 semapv:UnspecifiedMatching MONDO:0019199 interstitial granulomatous dermatitis with arthritis skos:exactMatch MEDGEN:1658052 semapv:UnspecifiedMatching MONDO:0019199 interstitial granulomatous dermatitis with arthritis skos:exactMatch Orphanet:79099 Interstitial granulomatous dermatitis with arthritis semapv:UnspecifiedMatching MONDO:0019199 interstitial granulomatous dermatitis with arthritis skos:exactMatch UMLS:C4751206 semapv:UnspecifiedMatching MONDO:0019200 retinitis pigmentosa skos:exactMatch DOID:10584 retinitis pigmentosa semapv:UnspecifiedMatching MONDO:0019200 retinitis pigmentosa skos:exactMatch MEDGEN:20551 semapv:UnspecifiedMatching MONDO:0019200 retinitis pigmentosa skos:exactMatch NCIT:C85045 Retinitis Pigmentosa semapv:UnspecifiedMatching MONDO:0019200 retinitis pigmentosa skos:exactMatch OMIM:268000 retinitis pigmentosa semapv:UnspecifiedMatching MONDO:0019200 retinitis pigmentosa skos:exactMatch OMIMPS:268000 Retinitis pigmentosa semapv:UnspecifiedMatching MONDO:0019200 retinitis pigmentosa skos:exactMatch Orphanet:791 Retinitis pigmentosa semapv:UnspecifiedMatching MONDO:0019200 retinitis pigmentosa skos:exactMatch SCTID:28835009 semapv:UnspecifiedMatching MONDO:0019200 retinitis pigmentosa skos:exactMatch UMLS:C0035334 semapv:UnspecifiedMatching MONDO:0019200 retinitis pigmentosa skos:exactMatch mesh:D012174 semapv:UnspecifiedMatching MONDO:0019201 thyrotoxic periodic paralysis skos:exactMatch MEDGEN:120639 semapv:UnspecifiedMatching MONDO:0019201 thyrotoxic periodic paralysis skos:exactMatch OMIMPS:188580 Thyrotoxic periodic paralysis semapv:UnspecifiedMatching MONDO:0019201 thyrotoxic periodic paralysis skos:exactMatch Orphanet:79102 Thyrotoxic periodic paralysis semapv:UnspecifiedMatching MONDO:0019201 thyrotoxic periodic paralysis skos:exactMatch SCTID:30967002 semapv:UnspecifiedMatching MONDO:0019201 thyrotoxic periodic paralysis skos:exactMatch UMLS:C0268446 semapv:UnspecifiedMatching MONDO:0019201 thyrotoxic periodic paralysis skos:exactMatch icd11.foundation:1457837313 Thyrotoxic periodic paralysis semapv:UnspecifiedMatching MONDO:0019202 myxofibrosarcoma skos:exactMatch DOID:0080534 myxofibrosarcoma semapv:UnspecifiedMatching MONDO:0019202 myxofibrosarcoma skos:exactMatch MEDGEN:811359 semapv:UnspecifiedMatching MONDO:0019202 myxofibrosarcoma skos:exactMatch NCIT:C6496 Myxofibrosarcoma semapv:UnspecifiedMatching MONDO:0019202 myxofibrosarcoma skos:exactMatch Orphanet:79105 Myxofibrosarcoma semapv:UnspecifiedMatching MONDO:0019202 myxofibrosarcoma skos:exactMatch SCTID:253042009 semapv:UnspecifiedMatching MONDO:0019202 myxofibrosarcoma skos:exactMatch UMLS:C3714524 semapv:UnspecifiedMatching MONDO:0019202 myxofibrosarcoma skos:exactMatch icd11.foundation:405689402 Myxofibrosarcoma, primary site semapv:UnspecifiedMatching MONDO:0019203 acute interstitial pneumonia skos:exactMatch DOID:2800 acute interstitial pneumonia semapv:UnspecifiedMatching MONDO:0019203 acute interstitial pneumonia skos:exactMatch ICD10CM:J84.114 Acute interstitial pneumonitis semapv:UnspecifiedMatching MONDO:0019203 acute interstitial pneumonia skos:exactMatch MEDGEN:39340 semapv:UnspecifiedMatching MONDO:0019203 acute interstitial pneumonia skos:exactMatch NCIT:C35806 Acute Interstitial Pneumonia semapv:UnspecifiedMatching MONDO:0019203 acute interstitial pneumonia skos:exactMatch Orphanet:79126 Acute interstitial pneumonia semapv:UnspecifiedMatching MONDO:0019203 acute interstitial pneumonia skos:exactMatch SCTID:236302005 semapv:UnspecifiedMatching MONDO:0019203 acute interstitial pneumonia skos:exactMatch UMLS:C0085786 semapv:UnspecifiedMatching MONDO:0019203 acute interstitial pneumonia skos:exactMatch icd11.foundation:2116884221 Acute interstitial pneumonitis semapv:UnspecifiedMatching MONDO:0019204 respiratory bronchiolitis-interstitial lung disease syndrome skos:exactMatch MEDGEN:1672485 semapv:UnspecifiedMatching MONDO:0019204 respiratory bronchiolitis-interstitial lung disease syndrome skos:exactMatch Orphanet:79127 Respiratory bronchiolitis-interstitial lung disease syndrome semapv:UnspecifiedMatching MONDO:0019204 respiratory bronchiolitis-interstitial lung disease syndrome skos:exactMatch UMLS:C1735355 semapv:UnspecifiedMatching MONDO:0019204 respiratory bronchiolitis-interstitial lung disease syndrome skos:exactMatch icd11.foundation:822500243 Respiratory bronchiolitis - interstitial lung disease semapv:UnspecifiedMatching MONDO:0019205 trichodysplasia-amelogenesis imperfecta syndrome skos:exactMatch MEDGEN:930013 semapv:UnspecifiedMatching MONDO:0019205 trichodysplasia-amelogenesis imperfecta syndrome skos:exactMatch Orphanet:79129 Trichodysplasia-amelogenesis imperfecta syndrome semapv:UnspecifiedMatching MONDO:0019205 trichodysplasia-amelogenesis imperfecta syndrome skos:exactMatch UMLS:C4304344 semapv:UnspecifiedMatching MONDO:0019207 DEND syndrome skos:exactMatch MEDGEN:929262 semapv:UnspecifiedMatching MONDO:0019207 DEND syndrome skos:exactMatch NCIT:C131845 K ATP Associated Developmental Delay, Epilepsy and Neonatal Diabetes semapv:UnspecifiedMatching MONDO:0019207 DEND syndrome skos:exactMatch Orphanet:79134 DEND syndrome semapv:UnspecifiedMatching MONDO:0019207 DEND syndrome skos:exactMatch SCTID:721088003 semapv:UnspecifiedMatching MONDO:0019207 DEND syndrome skos:exactMatch UMLS:C4303593 semapv:UnspecifiedMatching MONDO:0019208 Bickerstaff brainstem encephalitis skos:exactMatch MEDGEN:743311 semapv:UnspecifiedMatching MONDO:0019208 Bickerstaff brainstem encephalitis skos:exactMatch Orphanet:79138 Bickerstaff brainstem encephalitis semapv:UnspecifiedMatching MONDO:0019208 Bickerstaff brainstem encephalitis skos:exactMatch SCTID:427086003 semapv:UnspecifiedMatching MONDO:0019208 Bickerstaff brainstem encephalitis skos:exactMatch UMLS:C1960543 semapv:UnspecifiedMatching MONDO:0019208 Bickerstaff brainstem encephalitis skos:exactMatch icd11.foundation:163316971 Bickerstaff brainstem encephalitis semapv:UnspecifiedMatching MONDO:0019209 Japanese encephalitis skos:exactMatch DOID:10844 Japanese encephalitis semapv:UnspecifiedMatching MONDO:0019209 Japanese encephalitis skos:exactMatch EFO:0007332 semapv:UnspecifiedMatching MONDO:0019209 Japanese encephalitis skos:exactMatch ICD10CM:A83.0 Japanese encephalitis semapv:UnspecifiedMatching MONDO:0019209 Japanese encephalitis skos:exactMatch MEDGEN:4032 semapv:UnspecifiedMatching MONDO:0019209 Japanese encephalitis skos:exactMatch NCIT:C34577 Japanese B Encephalitis semapv:UnspecifiedMatching MONDO:0019209 Japanese encephalitis skos:exactMatch Orphanet:79139 Japanese encephalitis semapv:UnspecifiedMatching MONDO:0019209 Japanese encephalitis skos:exactMatch SCTID:52947006 semapv:UnspecifiedMatching MONDO:0019209 Japanese encephalitis skos:exactMatch UMLS:C0014057 semapv:UnspecifiedMatching MONDO:0019209 Japanese encephalitis skos:exactMatch icd11.foundation:961032639 Japanese encephalitis semapv:UnspecifiedMatching MONDO:0019209 Japanese encephalitis skos:exactMatch mesh:D004672 semapv:UnspecifiedMatching MONDO:0019210 cutaneous neuroendocrine carcinoma skos:exactMatch ICD10CM:C4A Merkel cell carcinoma semapv:UnspecifiedMatching MONDO:0019210 cutaneous neuroendocrine carcinoma skos:exactMatch MEDGEN:2843 semapv:UnspecifiedMatching MONDO:0019210 cutaneous neuroendocrine carcinoma skos:exactMatch NCIT:C9231 Merkel Cell Carcinoma semapv:UnspecifiedMatching MONDO:0019210 cutaneous neuroendocrine carcinoma skos:exactMatch Orphanet:79140 Cutaneous neuroendocrine carcinoma semapv:UnspecifiedMatching MONDO:0019210 cutaneous neuroendocrine carcinoma skos:exactMatch SCTID:253001006 semapv:UnspecifiedMatching MONDO:0019210 cutaneous neuroendocrine carcinoma skos:exactMatch UMLS:C0007129 semapv:UnspecifiedMatching MONDO:0019210 cutaneous neuroendocrine carcinoma skos:exactMatch icd11.foundation:680322043 Cutaneous neuroendocrine carcinoma semapv:UnspecifiedMatching MONDO:0019210 cutaneous neuroendocrine carcinoma skos:exactMatch mesh:D015266 semapv:UnspecifiedMatching MONDO:0019211 isolated congenital anonychia skos:exactMatch MEDGEN:120563 semapv:UnspecifiedMatching MONDO:0019211 isolated congenital anonychia skos:exactMatch Orphanet:79143 Isolated congenital anonychia semapv:UnspecifiedMatching MONDO:0019211 isolated congenital anonychia skos:exactMatch UMLS:C0265998 semapv:UnspecifiedMatching MONDO:0019212 disseminated superficial actinic porokeratosis skos:exactMatch ICD10CM:L56.5 Disseminated superficial actinic porokeratosis (DSAP) semapv:UnspecifiedMatching MONDO:0019212 disseminated superficial actinic porokeratosis skos:exactMatch MEDGEN:120561 semapv:UnspecifiedMatching MONDO:0019212 disseminated superficial actinic porokeratosis skos:exactMatch Orphanet:79152 Disseminated superficial actinic porokeratosis semapv:UnspecifiedMatching MONDO:0019212 disseminated superficial actinic porokeratosis skos:exactMatch SCTID:41495000 semapv:UnspecifiedMatching MONDO:0019212 disseminated superficial actinic porokeratosis skos:exactMatch UMLS:C0265970 semapv:UnspecifiedMatching MONDO:0019212 disseminated superficial actinic porokeratosis skos:exactMatch icd11.foundation:1828294192 Disseminated superficial actinic porokeratosis semapv:UnspecifiedMatching MONDO:0019213 obsolete cerebral organic aciduria skos:exactMatch Orphanet:79158 Cerebral organic aciduria semapv:UnspecifiedMatching MONDO:0019213 obsolete cerebral organic aciduria skos:exactMatch icd11.foundation:1644149132 Cerebral organic aciduria semapv:UnspecifiedMatching MONDO:0019214 inborn carbohydrate metabolic disorder skos:exactMatch DOID:2978 carbohydrate metabolic disorder semapv:UnspecifiedMatching MONDO:0019214 inborn carbohydrate metabolic disorder skos:exactMatch MEDGEN:2825 semapv:UnspecifiedMatching MONDO:0019214 inborn carbohydrate metabolic disorder skos:exactMatch NCIT:C97089 Carbohydrate Metabolism Disorder semapv:UnspecifiedMatching MONDO:0019214 inborn carbohydrate metabolic disorder skos:exactMatch Orphanet:79161 Disorder of carbohydrate metabolism semapv:UnspecifiedMatching MONDO:0019214 inborn carbohydrate metabolic disorder skos:exactMatch UMLS:C0007001 semapv:UnspecifiedMatching MONDO:0019214 inborn carbohydrate metabolic disorder skos:exactMatch mesh:D002239 semapv:UnspecifiedMatching MONDO:0019215 classic organic aciduria skos:exactMatch MEDGEN:1842457 semapv:UnspecifiedMatching MONDO:0019215 classic organic aciduria skos:exactMatch Orphanet:79163 Classic organic aciduria semapv:UnspecifiedMatching MONDO:0019215 classic organic aciduria skos:exactMatch UMLS:C5681291 semapv:UnspecifiedMatching MONDO:0019215 classic organic aciduria skos:exactMatch icd11.foundation:1879509617 Classical organic aciduria semapv:UnspecifiedMatching MONDO:0019216 inborn disorder of amino acid transport skos:exactMatch MEDGEN:541381 semapv:UnspecifiedMatching MONDO:0019216 inborn disorder of amino acid transport skos:exactMatch Orphanet:79166 Disorder of amino acid absorption and transport semapv:UnspecifiedMatching MONDO:0019216 inborn disorder of amino acid transport skos:exactMatch SCTID:16784003 semapv:UnspecifiedMatching MONDO:0019216 inborn disorder of amino acid transport skos:exactMatch UMLS:C0268641 semapv:UnspecifiedMatching MONDO:0019216 inborn disorder of amino acid transport skos:exactMatch icd11.foundation:1631611896 Disorders of amino acid absorption or transport semapv:UnspecifiedMatching MONDO:0019218 inborn disorder of bile acid synthesis skos:exactMatch MEDGEN:98324 semapv:UnspecifiedMatching MONDO:0019218 inborn disorder of bile acid synthesis skos:exactMatch Orphanet:79168 Disorder of bile acid synthesis semapv:UnspecifiedMatching MONDO:0019218 inborn disorder of bile acid synthesis skos:exactMatch UMLS:C0400973 semapv:UnspecifiedMatching MONDO:0019219 inborn disorder of neurotransmitter metabolism and transport skos:exactMatch MEDGEN:1842206 semapv:UnspecifiedMatching MONDO:0019219 inborn disorder of neurotransmitter metabolism and transport skos:exactMatch Orphanet:79169 Disorder of neurotransmitter metabolism and transport semapv:UnspecifiedMatching MONDO:0019219 inborn disorder of neurotransmitter metabolism and transport skos:exactMatch UMLS:C5681289 semapv:UnspecifiedMatching MONDO:0019220 inborn disorder of cobalamin metabolism and transport skos:exactMatch DOID:0050731 vitamin B12 deficiency semapv:UnspecifiedMatching MONDO:0019220 inborn disorder of cobalamin metabolism and transport skos:exactMatch MEDGEN:1826150 semapv:UnspecifiedMatching MONDO:0019220 inborn disorder of cobalamin metabolism and transport skos:exactMatch Orphanet:79171 Disorder of cobalamin metabolism and transport semapv:UnspecifiedMatching MONDO:0019220 inborn disorder of cobalamin metabolism and transport skos:exactMatch UMLS:C5681844 semapv:UnspecifiedMatching MONDO:0019220 inborn disorder of cobalamin metabolism and transport skos:exactMatch icd11.foundation:936546617 Disorders of cobalamin metabolism or transport semapv:UnspecifiedMatching MONDO:0019222 inborn disorder of methionine cycle and sulfur amino acid metabolism skos:exactMatch MEDGEN:1842381 semapv:UnspecifiedMatching MONDO:0019222 inborn disorder of methionine cycle and sulfur amino acid metabolism skos:exactMatch Orphanet:79173 Disorder of methionine cycle and sulfur amino acid metabolism semapv:UnspecifiedMatching MONDO:0019222 inborn disorder of methionine cycle and sulfur amino acid metabolism skos:exactMatch SCTID:28882002 semapv:UnspecifiedMatching MONDO:0019222 inborn disorder of methionine cycle and sulfur amino acid metabolism skos:exactMatch UMLS:C5680126 semapv:UnspecifiedMatching MONDO:0019222 inborn disorder of methionine cycle and sulfur amino acid metabolism skos:exactMatch icd11.foundation:67872354 Disorders of methionine cycle or sulphur amino acid metabolism semapv:UnspecifiedMatching MONDO:0019223 disorder of fatty acid and ketone body metabolism skos:exactMatch MEDGEN:1842462 semapv:UnspecifiedMatching MONDO:0019223 disorder of fatty acid and ketone body metabolism skos:exactMatch Orphanet:79174 Disorder of fatty acid oxidation and ketone body metabolism semapv:UnspecifiedMatching MONDO:0019223 disorder of fatty acid and ketone body metabolism skos:exactMatch UMLS:C5681281 semapv:UnspecifiedMatching MONDO:0019225 disorder of gluconeogenesis skos:exactMatch MEDGEN:1843360 semapv:UnspecifiedMatching MONDO:0019225 disorder of gluconeogenesis skos:exactMatch Orphanet:79177 Gluconeogenesis disorder semapv:UnspecifiedMatching MONDO:0019225 disorder of gluconeogenesis skos:exactMatch UMLS:C1398833 semapv:UnspecifiedMatching MONDO:0019226 glucose transport disorder skos:exactMatch MEDGEN:1842427 semapv:UnspecifiedMatching MONDO:0019226 glucose transport disorder skos:exactMatch Orphanet:79178 Glucose transport disorder semapv:UnspecifiedMatching MONDO:0019226 glucose transport disorder skos:exactMatch UMLS:C5389835 semapv:UnspecifiedMatching MONDO:0019227 obsolete inborn disorder of glycerol metabolism skos:exactMatch Orphanet:79179 Disorder of glycerol metabolism semapv:UnspecifiedMatching MONDO:0019227 obsolete inborn disorder of glycerol metabolism skos:exactMatch icd11.foundation:61192754 Disorders of glycerol metabolism semapv:UnspecifiedMatching MONDO:0019228 inborn disorder of histidine metabolism skos:exactMatch DOID:9265 histidine metabolism disease semapv:UnspecifiedMatching MONDO:0019228 inborn disorder of histidine metabolism skos:exactMatch ICD10CM:E70.40 Disorders of histidine metabolism, unspecified semapv:UnspecifiedMatching MONDO:0019228 inborn disorder of histidine metabolism skos:exactMatch MEDGEN:541342 semapv:UnspecifiedMatching MONDO:0019228 inborn disorder of histidine metabolism skos:exactMatch Orphanet:79181 Disorder of histidine metabolism semapv:UnspecifiedMatching MONDO:0019228 inborn disorder of histidine metabolism skos:exactMatch SCTID:44176004 semapv:UnspecifiedMatching MONDO:0019228 inborn disorder of histidine metabolism skos:exactMatch UMLS:C0268512 semapv:UnspecifiedMatching MONDO:0019228 inborn disorder of histidine metabolism skos:exactMatch icd11.foundation:543162269 Disorders of histidine metabolism semapv:UnspecifiedMatching MONDO:0019229 inborn disorder of ketolysis skos:exactMatch MEDGEN:1842927 semapv:UnspecifiedMatching MONDO:0019229 inborn disorder of ketolysis skos:exactMatch Orphanet:79183 Disorder of ketolysis semapv:UnspecifiedMatching MONDO:0019229 inborn disorder of ketolysis skos:exactMatch UMLS:C5681845 semapv:UnspecifiedMatching MONDO:0019229 inborn disorder of ketolysis skos:exactMatch icd11.foundation:1454722246 Disorders of ketone body metabolism semapv:UnspecifiedMatching MONDO:0019230 inborn disorder of ornithine or proline metabolism skos:exactMatch MEDGEN:1842760 semapv:UnspecifiedMatching MONDO:0019230 inborn disorder of ornithine or proline metabolism skos:exactMatch Orphanet:79185 Disorder of ornithine or proline metabolism semapv:UnspecifiedMatching MONDO:0019230 inborn disorder of ornithine or proline metabolism skos:exactMatch UMLS:C5681278 semapv:UnspecifiedMatching MONDO:0019231 inborn disorder of pentose phosphate metabolism skos:exactMatch MEDGEN:1842861 semapv:UnspecifiedMatching MONDO:0019231 inborn disorder of pentose phosphate metabolism skos:exactMatch Orphanet:79186 Disorder of pentose phosphate metabolism semapv:UnspecifiedMatching MONDO:0019231 inborn disorder of pentose phosphate metabolism skos:exactMatch UMLS:C5681279 semapv:UnspecifiedMatching MONDO:0019231 inborn disorder of pentose phosphate metabolism skos:exactMatch icd11.foundation:2067324607 Disorders of the pentose phosphate pathway semapv:UnspecifiedMatching MONDO:0019232 inborn disorder of peptide metabolism skos:exactMatch MEDGEN:1843166 semapv:UnspecifiedMatching MONDO:0019232 inborn disorder of peptide metabolism skos:exactMatch Orphanet:79187 Disorder of peptide metabolism semapv:UnspecifiedMatching MONDO:0019232 inborn disorder of peptide metabolism skos:exactMatch UMLS:C4736193 semapv:UnspecifiedMatching MONDO:0019232 inborn disorder of peptide metabolism skos:exactMatch icd11.foundation:1488430462 Disorders of peptide metabolism semapv:UnspecifiedMatching MONDO:0019233 disorder of peroxisomal beta oxidation skos:exactMatch MEDGEN:1843097 semapv:UnspecifiedMatching MONDO:0019233 disorder of peroxisomal beta oxidation skos:exactMatch Orphanet:79188 Peroxisomal beta-oxidation disorder semapv:UnspecifiedMatching MONDO:0019233 disorder of peroxisomal beta oxidation skos:exactMatch UMLS:C5681280 semapv:UnspecifiedMatching MONDO:0019234 peroxisome biogenesis disorder skos:exactMatch DOID:0080377 peroxisomal biogenesis disorder semapv:UnspecifiedMatching MONDO:0019234 peroxisome biogenesis disorder skos:exactMatch MEDGEN:330407 semapv:UnspecifiedMatching MONDO:0019234 peroxisome biogenesis disorder skos:exactMatch NCIT:C146639 Peroxisome Biogenesis Disorders in the Zellweger Spectrum semapv:UnspecifiedMatching MONDO:0019234 peroxisome biogenesis disorder skos:exactMatch NCIT:C155747 Peroxisome Biogenesis Disorder semapv:UnspecifiedMatching MONDO:0019234 peroxisome biogenesis disorder skos:exactMatch OMIMPS:214100 Peroxisome biogenesis disorder semapv:UnspecifiedMatching MONDO:0019234 peroxisome biogenesis disorder skos:exactMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:UnspecifiedMatching MONDO:0019234 peroxisome biogenesis disorder skos:exactMatch SCTID:742876007 semapv:UnspecifiedMatching MONDO:0019234 peroxisome biogenesis disorder skos:exactMatch UMLS:C1832200 semapv:UnspecifiedMatching MONDO:0019234 peroxisome biogenesis disorder skos:exactMatch icd11.foundation:1919322367 Disorders of peroxisome biogenesis semapv:UnspecifiedMatching MONDO:0019234 peroxisome biogenesis disorder skos:exactMatch mesh:C531857 semapv:UnspecifiedMatching MONDO:0019234 peroxisome biogenesis disorder skos:exactMatch mesh:C536664 semapv:UnspecifiedMatching MONDO:0019235 inborn disorder of phenylalanine and tyrosine metabolism skos:exactMatch MEDGEN:1842953 semapv:UnspecifiedMatching MONDO:0019235 inborn disorder of phenylalanine and tyrosine metabolism skos:exactMatch Orphanet:79190 Disorder of phenylalanin or tyrosine metabolism semapv:UnspecifiedMatching MONDO:0019235 inborn disorder of phenylalanine and tyrosine metabolism skos:exactMatch UMLS:C5681284 semapv:UnspecifiedMatching MONDO:0019236 inborn disorder of purine metabolism skos:exactMatch Orphanet:79191 Disorder of purine metabolism semapv:UnspecifiedMatching MONDO:0019236 inborn disorder of purine metabolism skos:exactMatch icd11.foundation:1958565793 Disorders of purine metabolism semapv:UnspecifiedMatching MONDO:0019237 inborn disorder of pyridoxine metabolism skos:exactMatch MEDGEN:1842882 semapv:UnspecifiedMatching MONDO:0019237 inborn disorder of pyridoxine metabolism skos:exactMatch Orphanet:79192 Disorder of pyridoxine metabolism semapv:UnspecifiedMatching MONDO:0019237 inborn disorder of pyridoxine metabolism skos:exactMatch UMLS:C5681285 semapv:UnspecifiedMatching MONDO:0019237 inborn disorder of pyridoxine metabolism skos:exactMatch icd11.foundation:1860570911 Disorders of pyridoxine metabolism semapv:UnspecifiedMatching MONDO:0019238 inborn disorder of pyrimidine metabolism skos:exactMatch DOID:0050832 pyrimidine metabolic disorder semapv:UnspecifiedMatching MONDO:0019238 inborn disorder of pyrimidine metabolism skos:exactMatch MEDGEN:541208 semapv:UnspecifiedMatching MONDO:0019238 inborn disorder of pyrimidine metabolism skos:exactMatch Orphanet:79193 Disorder of pyrimidine metabolism semapv:UnspecifiedMatching MONDO:0019238 inborn disorder of pyrimidine metabolism skos:exactMatch UMLS:C0268127 semapv:UnspecifiedMatching MONDO:0019238 inborn disorder of pyrimidine metabolism skos:exactMatch icd11.foundation:771608363 Disorders of pyrimidine metabolism semapv:UnspecifiedMatching MONDO:0019239 inborn disorder of serine family metabolism skos:exactMatch MEDGEN:1842840 semapv:UnspecifiedMatching MONDO:0019239 inborn disorder of serine family metabolism skos:exactMatch Orphanet:79194 Disorder of serine or glycine metabolism semapv:UnspecifiedMatching MONDO:0019239 inborn disorder of serine family metabolism skos:exactMatch UMLS:C5681286 semapv:UnspecifiedMatching MONDO:0019240 sterol biosynthesis disorder skos:exactMatch MEDGEN:1843040 semapv:UnspecifiedMatching MONDO:0019240 sterol biosynthesis disorder skos:exactMatch Orphanet:79195 Sterol biosynthesis disorder semapv:UnspecifiedMatching MONDO:0019240 sterol biosynthesis disorder skos:exactMatch UMLS:C5681287 semapv:UnspecifiedMatching MONDO:0019241 inborn disorder of the gamma-glutamyl cycle skos:exactMatch MEDGEN:541345 semapv:UnspecifiedMatching MONDO:0019241 inborn disorder of the gamma-glutamyl cycle skos:exactMatch Orphanet:79196 Disorder of the gamma-glutamyl cycle semapv:UnspecifiedMatching MONDO:0019241 inborn disorder of the gamma-glutamyl cycle skos:exactMatch SCTID:9128006 semapv:UnspecifiedMatching MONDO:0019241 inborn disorder of the gamma-glutamyl cycle skos:exactMatch UMLS:C0268517 semapv:UnspecifiedMatching MONDO:0019241 inborn disorder of the gamma-glutamyl cycle skos:exactMatch icd11.foundation:34853044 Disorders of the gamma-glutamyl cycle semapv:UnspecifiedMatching MONDO:0019242 inborn disorder of branched-chain amino acid metabolism skos:exactMatch MEDGEN:87452 semapv:UnspecifiedMatching MONDO:0019242 inborn disorder of branched-chain amino acid metabolism skos:exactMatch Orphanet:79197 Disorder of branched-chain amino acid metabolism semapv:UnspecifiedMatching MONDO:0019242 inborn disorder of branched-chain amino acid metabolism skos:exactMatch SCTID:116020001 semapv:UnspecifiedMatching MONDO:0019242 inborn disorder of branched-chain amino acid metabolism skos:exactMatch UMLS:C0342712 semapv:UnspecifiedMatching MONDO:0019242 inborn disorder of branched-chain amino acid metabolism skos:exactMatch icd11.foundation:5456505 Disorders of branched-chain amino acid metabolism semapv:UnspecifiedMatching MONDO:0019243 inborn disorder of energy metabolism skos:exactMatch MEDGEN:1842265 semapv:UnspecifiedMatching MONDO:0019243 inborn disorder of energy metabolism skos:exactMatch Orphanet:79200 Disorder of energy metabolism semapv:UnspecifiedMatching MONDO:0019243 inborn disorder of energy metabolism skos:exactMatch UMLS:C5681282 semapv:UnspecifiedMatching MONDO:0019245 lysosomal lipid storage disorder skos:exactMatch DOID:9455 lipid storage disease semapv:UnspecifiedMatching MONDO:0019245 lysosomal lipid storage disorder skos:exactMatch MEDGEN:9780 semapv:UnspecifiedMatching MONDO:0019245 lysosomal lipid storage disorder skos:exactMatch Orphanet:79204 Lipid storage disease semapv:UnspecifiedMatching MONDO:0019245 lysosomal lipid storage disorder skos:exactMatch SCTID:10741005 semapv:UnspecifiedMatching MONDO:0019245 lysosomal lipid storage disorder skos:exactMatch UMLS:C0023794 semapv:UnspecifiedMatching MONDO:0019245 lysosomal lipid storage disorder skos:exactMatch mesh:D008064 semapv:UnspecifiedMatching MONDO:0019246 inborn disorder of lysosomal amino acid transport skos:exactMatch MEDGEN:1842266 semapv:UnspecifiedMatching MONDO:0019246 inborn disorder of lysosomal amino acid transport skos:exactMatch Orphanet:79207 Disorder of lysosomal amino acid transport semapv:UnspecifiedMatching MONDO:0019246 inborn disorder of lysosomal amino acid transport skos:exactMatch UMLS:C5681276 semapv:UnspecifiedMatching MONDO:0019248 mucolipidosis skos:exactMatch DOID:0080488 mucolipidosis semapv:UnspecifiedMatching MONDO:0019248 mucolipidosis skos:exactMatch MEDGEN:7731 semapv:UnspecifiedMatching MONDO:0019248 mucolipidosis skos:exactMatch NCIT:C61267 Mucolipidosis semapv:UnspecifiedMatching MONDO:0019248 mucolipidosis skos:exactMatch Orphanet:79212 Mucolipidosis semapv:UnspecifiedMatching MONDO:0019248 mucolipidosis skos:exactMatch SCTID:70528007 semapv:UnspecifiedMatching MONDO:0019248 mucolipidosis skos:exactMatch UMLS:C0026697 semapv:UnspecifiedMatching MONDO:0019248 mucolipidosis skos:exactMatch icd11.foundation:714623911 Mucolipidosis semapv:UnspecifiedMatching MONDO:0019248 mucolipidosis skos:exactMatch mesh:D009081 semapv:UnspecifiedMatching MONDO:0019249 mucopolysaccharidosis skos:exactMatch DOID:12798 mucopolysaccharidosis semapv:UnspecifiedMatching MONDO:0019249 mucopolysaccharidosis skos:exactMatch MEDGEN:7733 semapv:UnspecifiedMatching MONDO:0019249 mucopolysaccharidosis skos:exactMatch NCIT:C61259 Mucopolysaccharidosis semapv:UnspecifiedMatching MONDO:0019249 mucopolysaccharidosis skos:exactMatch OMIMPS:607014 Mucopolysaccharidoses semapv:UnspecifiedMatching MONDO:0019249 mucopolysaccharidosis skos:exactMatch Orphanet:79213 Mucopolysaccharidosis semapv:UnspecifiedMatching MONDO:0019249 mucopolysaccharidosis skos:exactMatch SCTID:11380006 semapv:UnspecifiedMatching MONDO:0019249 mucopolysaccharidosis skos:exactMatch UMLS:C0026703 semapv:UnspecifiedMatching MONDO:0019249 mucopolysaccharidosis skos:exactMatch icd11.foundation:1596128696 Mucopolysaccharidosis semapv:UnspecifiedMatching MONDO:0019249 mucopolysaccharidosis skos:exactMatch mesh:D009083 semapv:UnspecifiedMatching MONDO:0019250 inborn disorder of biogenic amine metabolism and transport skos:exactMatch MEDGEN:1842301 semapv:UnspecifiedMatching MONDO:0019250 inborn disorder of biogenic amine metabolism and transport skos:exactMatch Orphanet:79214 Disorder of biogenic amine metabolism and transport semapv:UnspecifiedMatching MONDO:0019250 inborn disorder of biogenic amine metabolism and transport skos:exactMatch UMLS:C5681274 semapv:UnspecifiedMatching MONDO:0019251 oligosaccharidosis skos:exactMatch MEDGEN:1787409 semapv:UnspecifiedMatching MONDO:0019251 oligosaccharidosis skos:exactMatch Orphanet:79215 Oligosaccharidosis semapv:UnspecifiedMatching MONDO:0019251 oligosaccharidosis skos:exactMatch SCTID:1155842003 semapv:UnspecifiedMatching MONDO:0019251 oligosaccharidosis skos:exactMatch UMLS:C5547641 semapv:UnspecifiedMatching MONDO:0019251 oligosaccharidosis skos:exactMatch icd11.foundation:1805681916 Oligosaccharidosis semapv:UnspecifiedMatching MONDO:0019252 obsolete other metabolic disease with skin involvement skos:exactMatch Orphanet:79217 Other metabolic disease with skin involvement semapv:UnspecifiedMatching MONDO:0019253 metabolic disease involving other neurotransmitter deficiency skos:exactMatch MEDGEN:1843271 semapv:UnspecifiedMatching MONDO:0019253 metabolic disease involving other neurotransmitter deficiency skos:exactMatch Orphanet:79219 Metabolic disease involving other neurotransmitter deficiency semapv:UnspecifiedMatching MONDO:0019253 metabolic disease involving other neurotransmitter deficiency skos:exactMatch UMLS:C5681275 semapv:UnspecifiedMatching MONDO:0019253 metabolic disease involving other neurotransmitter deficiency skos:exactMatch icd11.foundation:946446904 Metabolic disease involving other neurotransmitter deficiency semapv:UnspecifiedMatching MONDO:0019254 inborn disorder of purine or pyrimidine metabolism skos:exactMatch DOID:653 purine-pyrimidine metabolic disorder semapv:UnspecifiedMatching MONDO:0019254 inborn disorder of purine or pyrimidine metabolism skos:exactMatch MEDGEN:48263 semapv:UnspecifiedMatching MONDO:0019254 inborn disorder of purine or pyrimidine metabolism skos:exactMatch Orphanet:79224 Disorder of purine or pyrimidine metabolism semapv:UnspecifiedMatching MONDO:0019254 inborn disorder of purine or pyrimidine metabolism skos:exactMatch UMLS:C0034139 semapv:UnspecifiedMatching MONDO:0019254 inborn disorder of purine or pyrimidine metabolism skos:exactMatch mesh:D011686 semapv:UnspecifiedMatching MONDO:0019255 sphingolipidosis skos:exactMatch DOID:1927 sphingolipidosis semapv:UnspecifiedMatching MONDO:0019255 sphingolipidosis skos:exactMatch MEDGEN:52453 semapv:UnspecifiedMatching MONDO:0019255 sphingolipidosis skos:exactMatch NCIT:C117254 Sphingolipidosis semapv:UnspecifiedMatching MONDO:0019255 sphingolipidosis skos:exactMatch Orphanet:79225 Sphingolipidosis semapv:UnspecifiedMatching MONDO:0019255 sphingolipidosis skos:exactMatch SCTID:238028008 semapv:UnspecifiedMatching MONDO:0019255 sphingolipidosis skos:exactMatch UMLS:C0037899 semapv:UnspecifiedMatching MONDO:0019255 sphingolipidosis skos:exactMatch icd11.foundation:1875237176 Sphingolipidosis semapv:UnspecifiedMatching MONDO:0019255 sphingolipidosis skos:exactMatch mesh:D013106 semapv:UnspecifiedMatching MONDO:0019256 sterol metabolism disorder skos:exactMatch MEDGEN:1842986 semapv:UnspecifiedMatching MONDO:0019256 sterol metabolism disorder skos:exactMatch Orphanet:79226 Sterol metabolism disorder semapv:UnspecifiedMatching MONDO:0019256 sterol metabolism disorder skos:exactMatch UMLS:C5681277 semapv:UnspecifiedMatching MONDO:0019257 hemochromatosis type 2 skos:exactMatch DOID:0111034 hemochromatosis type 2 semapv:UnspecifiedMatching MONDO:0019257 hemochromatosis type 2 skos:exactMatch MEDGEN:82769 semapv:UnspecifiedMatching MONDO:0019257 hemochromatosis type 2 skos:exactMatch Orphanet:79230 HJV or HAMP-related hemochromatosis semapv:UnspecifiedMatching MONDO:0019257 hemochromatosis type 2 skos:exactMatch SCTID:50855007 semapv:UnspecifiedMatching MONDO:0019257 hemochromatosis type 2 skos:exactMatch UMLS:C0268060 semapv:UnspecifiedMatching MONDO:0019257 hemochromatosis type 2 skos:exactMatch mesh:C537247 semapv:UnspecifiedMatching MONDO:0019258 mild phenylketonuria skos:exactMatch MEDGEN:1842357 semapv:UnspecifiedMatching MONDO:0019258 mild phenylketonuria skos:exactMatch Orphanet:79253 Mild phenylketonuria semapv:UnspecifiedMatching MONDO:0019258 mild phenylketonuria skos:exactMatch UMLS:C5680203 semapv:UnspecifiedMatching MONDO:0019259 classic phenylketonuria skos:exactMatch MEDGEN:199655 semapv:UnspecifiedMatching MONDO:0019259 classic phenylketonuria skos:exactMatch Orphanet:79254 Classic phenylketonuria semapv:UnspecifiedMatching MONDO:0019259 classic phenylketonuria skos:exactMatch UMLS:C0751434 semapv:UnspecifiedMatching MONDO:0019259 classic phenylketonuria skos:exactMatch icd11.foundation:2084504393 Classical phenylketonuria semapv:UnspecifiedMatching MONDO:0019260 adult neuronal ceroid lipofuscinosis skos:exactMatch MEDGEN:7230 semapv:UnspecifiedMatching MONDO:0019260 adult neuronal ceroid lipofuscinosis skos:exactMatch SCTID:62009002 semapv:UnspecifiedMatching MONDO:0019260 adult neuronal ceroid lipofuscinosis skos:exactMatch UMLS:C0022797 semapv:UnspecifiedMatching MONDO:0019260 adult neuronal ceroid lipofuscinosis skos:exactMatch icd11.foundation:1460031344 Adult neuronal ceroid lipofuscinosis semapv:UnspecifiedMatching MONDO:0019261 infantile neuronal ceroid lipofuscinosis skos:exactMatch MEDGEN:75666 semapv:UnspecifiedMatching MONDO:0019261 infantile neuronal ceroid lipofuscinosis skos:exactMatch SCTID:58258004 semapv:UnspecifiedMatching MONDO:0019261 infantile neuronal ceroid lipofuscinosis skos:exactMatch UMLS:C0268281 semapv:UnspecifiedMatching MONDO:0019261 infantile neuronal ceroid lipofuscinosis skos:exactMatch icd11.foundation:797123687 Infantile neuronal ceroid lipofuscinosis semapv:UnspecifiedMatching MONDO:0019262 juvenile neuronal ceroid lipofuscinosis skos:exactMatch SCTID:61663001 semapv:UnspecifiedMatching MONDO:0019262 juvenile neuronal ceroid lipofuscinosis skos:exactMatch icd11.foundation:1716107919 Juvenile neuronal ceroid lipofuscinosis semapv:UnspecifiedMatching MONDO:0019263 autosomal erythropoietic protoporphyria skos:exactMatch Orphanet:79278 Autosomal erythropoietic protoporphyria semapv:UnspecifiedMatching MONDO:0019264 alpha-N-acetylgalactosaminidase deficiency type 3 skos:exactMatch DOID:0112320 Schindler disease type 3 semapv:UnspecifiedMatching MONDO:0019264 alpha-N-acetylgalactosaminidase deficiency type 3 skos:exactMatch MEDGEN:1772900 semapv:UnspecifiedMatching MONDO:0019264 alpha-N-acetylgalactosaminidase deficiency type 3 skos:exactMatch Orphanet:79281 Alpha-N-acetylgalactosaminidase deficiency type 3 semapv:UnspecifiedMatching MONDO:0019264 alpha-N-acetylgalactosaminidase deficiency type 3 skos:exactMatch SCTID:880066000 semapv:UnspecifiedMatching MONDO:0019264 alpha-N-acetylgalactosaminidase deficiency type 3 skos:exactMatch UMLS:C5437471 semapv:UnspecifiedMatching MONDO:0019264 alpha-N-acetylgalactosaminidase deficiency type 3 skos:exactMatch icd11.foundation:1639349183 Alpha-N-acetylgalactosaminidase deficiency type 3 semapv:UnspecifiedMatching MONDO:0019265 diazoxide-resistant focal hyperinsulinism skos:exactMatch MEDGEN:1843436 semapv:UnspecifiedMatching MONDO:0019265 diazoxide-resistant focal hyperinsulinism skos:exactMatch Orphanet:79298 Diazoxide-resistant focal hyperinsulinism semapv:UnspecifiedMatching MONDO:0019265 diazoxide-resistant focal hyperinsulinism skos:exactMatch UMLS:C5680204 semapv:UnspecifiedMatching MONDO:0019266 SAPHO syndrome skos:exactMatch DOID:13677 SAPHO syndrome semapv:UnspecifiedMatching MONDO:0019266 SAPHO syndrome skos:exactMatch EFO:1001164 semapv:UnspecifiedMatching MONDO:0019266 SAPHO syndrome skos:exactMatch MEDGEN:120490 semapv:UnspecifiedMatching MONDO:0019266 SAPHO syndrome skos:exactMatch NCIT:C119049 Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis Syndrome semapv:UnspecifiedMatching MONDO:0019266 SAPHO syndrome skos:exactMatch Orphanet:793 SAPHO syndrome semapv:UnspecifiedMatching MONDO:0019266 SAPHO syndrome skos:exactMatch SCTID:60684003 semapv:UnspecifiedMatching MONDO:0019266 SAPHO syndrome skos:exactMatch UMLS:C0263859 semapv:UnspecifiedMatching MONDO:0019266 SAPHO syndrome skos:exactMatch icd11.foundation:1901494067 SAPHO syndrome semapv:UnspecifiedMatching MONDO:0019266 SAPHO syndrome skos:exactMatch mesh:D020083 semapv:UnspecifiedMatching MONDO:0019267 vitamin B12-unresponsive methylmalonic acidemia type mut- skos:exactMatch MEDGEN:575192 semapv:UnspecifiedMatching MONDO:0019267 vitamin B12-unresponsive methylmalonic acidemia type mut- skos:exactMatch Orphanet:79312 Vitamin B12-unresponsive methylmalonic acidemia type mut- semapv:UnspecifiedMatching MONDO:0019267 vitamin B12-unresponsive methylmalonic acidemia type mut- skos:exactMatch SCTID:237946002 semapv:UnspecifiedMatching MONDO:0019267 vitamin B12-unresponsive methylmalonic acidemia type mut- skos:exactMatch UMLS:C0342719 semapv:UnspecifiedMatching MONDO:0019268 epidermal disease skos:exactMatch MEDGEN:1842776 semapv:UnspecifiedMatching MONDO:0019268 epidermal disease skos:exactMatch Orphanet:79353 Epidermal disease semapv:UnspecifiedMatching MONDO:0019268 epidermal disease skos:exactMatch UMLS:C5681492 semapv:UnspecifiedMatching MONDO:0019269 ichthyosis skos:exactMatch DOID:1697 ichthyosis semapv:UnspecifiedMatching MONDO:0019269 ichthyosis skos:exactMatch MEDGEN:7002 semapv:UnspecifiedMatching MONDO:0019269 ichthyosis skos:exactMatch NCIT:C84776 Ichthyosis semapv:UnspecifiedMatching MONDO:0019269 ichthyosis skos:exactMatch Orphanet:79354 Ichthyosis semapv:UnspecifiedMatching MONDO:0019269 ichthyosis skos:exactMatch UMLS:C0020757 semapv:UnspecifiedMatching MONDO:0019269 ichthyosis skos:exactMatch mesh:D007057 semapv:UnspecifiedMatching MONDO:0019270 erythrokeratoderma skos:exactMatch MEDGEN:609461 semapv:UnspecifiedMatching MONDO:0019270 erythrokeratoderma skos:exactMatch Orphanet:79355 Erythrokeratoderma semapv:UnspecifiedMatching MONDO:0019270 erythrokeratoderma skos:exactMatch SCTID:254215005 semapv:UnspecifiedMatching MONDO:0019270 erythrokeratoderma skos:exactMatch UMLS:C0432330 semapv:UnspecifiedMatching MONDO:0019271 obsolete acrokeratoderma skos:exactMatch Orphanet:79356 Acrokeratoderma semapv:UnspecifiedMatching MONDO:0019272 hereditary palmoplantar keratoderma skos:exactMatch MEDGEN:590657 semapv:UnspecifiedMatching MONDO:0019272 hereditary palmoplantar keratoderma skos:exactMatch Orphanet:79357 Hereditary palmoplantar keratoderma semapv:UnspecifiedMatching MONDO:0019272 hereditary palmoplantar keratoderma skos:exactMatch SCTID:239066003 semapv:UnspecifiedMatching MONDO:0019272 hereditary palmoplantar keratoderma skos:exactMatch UMLS:C0406757 semapv:UnspecifiedMatching MONDO:0019272 hereditary palmoplantar keratoderma skos:exactMatch icd11.foundation:1941547119 Hereditary palmoplantar keratodermas semapv:UnspecifiedMatching MONDO:0019274 obsolete other epidermal disorder skos:exactMatch Orphanet:79359 Other epidermal disorder semapv:UnspecifiedMatching MONDO:0019275 obsolete other genetic epidermal disease skos:exactMatch Orphanet:79360 Other genetic epidermal disease semapv:UnspecifiedMatching MONDO:0019276 inherited epidermolysis bullosa skos:exactMatch MEDGEN:697573 semapv:UnspecifiedMatching MONDO:0019276 inherited epidermolysis bullosa skos:exactMatch Orphanet:79361 Inherited epidermolysis bullosa semapv:UnspecifiedMatching MONDO:0019276 inherited epidermolysis bullosa skos:exactMatch SCTID:402781004 semapv:UnspecifiedMatching MONDO:0019276 inherited epidermolysis bullosa skos:exactMatch UMLS:C1274224 semapv:UnspecifiedMatching MONDO:0019277 obsolete epidermal appendage anomaly skos:exactMatch Orphanet:79362 Epidermal appendage anomaly semapv:UnspecifiedMatching MONDO:0019278 hair anomaly skos:exactMatch MEDGEN:539624 semapv:UnspecifiedMatching MONDO:0019278 hair anomaly skos:exactMatch Orphanet:79363 Hair anomaly semapv:UnspecifiedMatching MONDO:0019278 hair anomaly skos:exactMatch UMLS:C0265991 semapv:UnspecifiedMatching MONDO:0019280 hypertrichosis skos:exactMatch DOID:420 hypertrichosis semapv:UnspecifiedMatching MONDO:0019280 hypertrichosis skos:exactMatch ICD10WHO:L68 Hypertrichosis semapv:UnspecifiedMatching MONDO:0019280 hypertrichosis skos:exactMatch MEDGEN:43787 semapv:UnspecifiedMatching MONDO:0019280 hypertrichosis skos:exactMatch Orphanet:79365 Rare disorder with hypertrichosis semapv:UnspecifiedMatching MONDO:0019280 hypertrichosis skos:exactMatch SCTID:29966009 semapv:UnspecifiedMatching MONDO:0019280 hypertrichosis skos:exactMatch UMLS:C0020555 semapv:UnspecifiedMatching MONDO:0019280 hypertrichosis skos:exactMatch icd11.foundation:2042627850 Hypertrichosis semapv:UnspecifiedMatching MONDO:0019280 hypertrichosis skos:exactMatch mesh:D006983 semapv:UnspecifiedMatching MONDO:0019281 obsolete isolated genetic hair shaft abnormality skos:exactMatch Orphanet:79366 Isolated hair shaft abnormality semapv:UnspecifiedMatching MONDO:0019282 obsolete syndromic hair shaft abnormality skos:exactMatch Orphanet:79367 Syndromic hair shaft abnormality semapv:UnspecifiedMatching MONDO:0019283 nail anomaly skos:exactMatch MEDGEN:539627 semapv:UnspecifiedMatching MONDO:0019283 nail anomaly skos:exactMatch Orphanet:79368 Nail anomaly semapv:UnspecifiedMatching MONDO:0019283 nail anomaly skos:exactMatch UMLS:C0265997 semapv:UnspecifiedMatching MONDO:0019284 inherited isolated nail anomaly skos:exactMatch DOID:0080683 nonsyndromic congenital nail disorder semapv:UnspecifiedMatching MONDO:0019284 inherited isolated nail anomaly skos:exactMatch MEDGEN:1843192 semapv:UnspecifiedMatching MONDO:0019284 inherited isolated nail anomaly skos:exactMatch OMIMPS:161050 Nail disorder, nonsyndromic congenital semapv:UnspecifiedMatching MONDO:0019284 inherited isolated nail anomaly skos:exactMatch Orphanet:79369 Isolated nail anomaly semapv:UnspecifiedMatching MONDO:0019284 inherited isolated nail anomaly skos:exactMatch UMLS:C5681477 semapv:UnspecifiedMatching MONDO:0019285 obsolete syndromic nail anomaly skos:exactMatch Orphanet:79370 Syndromic nail anomaly semapv:UnspecifiedMatching MONDO:0019286 obsolete sebaceous gland anomaly skos:exactMatch Orphanet:79372 Sebaceous gland anomaly semapv:UnspecifiedMatching MONDO:0019287 ectodermal dysplasia syndrome skos:exactMatch DOID:2121 ectodermal dysplasia semapv:UnspecifiedMatching MONDO:0019287 ectodermal dysplasia syndrome skos:exactMatch MEDGEN:8544 semapv:UnspecifiedMatching MONDO:0019287 ectodermal dysplasia syndrome skos:exactMatch NCIT:C84683 Ectodermal Dysplasia semapv:UnspecifiedMatching MONDO:0019287 ectodermal dysplasia syndrome skos:exactMatch OMIMPS:305100 Ectodermal dysplasia (select examples) semapv:UnspecifiedMatching MONDO:0019287 ectodermal dysplasia syndrome skos:exactMatch Orphanet:79373 Ectodermal dysplasia syndrome semapv:UnspecifiedMatching MONDO:0019287 ectodermal dysplasia syndrome skos:exactMatch SCTID:8654005 semapv:UnspecifiedMatching MONDO:0019287 ectodermal dysplasia syndrome skos:exactMatch UMLS:C0013575 semapv:UnspecifiedMatching MONDO:0019287 ectodermal dysplasia syndrome skos:exactMatch icd11.foundation:1156567558 Ectodermal dysplasia syndromes semapv:UnspecifiedMatching MONDO:0019287 ectodermal dysplasia syndrome skos:exactMatch mesh:D004476 semapv:UnspecifiedMatching MONDO:0019288 skin pigmentation disorder skos:exactMatch DOID:10123 pigmentation disease semapv:UnspecifiedMatching MONDO:0019288 skin pigmentation disorder skos:exactMatch MEDGEN:316465 semapv:UnspecifiedMatching MONDO:0019288 skin pigmentation disorder skos:exactMatch NCIT:C34557 Skin Pigmentation Disorder semapv:UnspecifiedMatching MONDO:0019288 skin pigmentation disorder skos:exactMatch Orphanet:79374 Pigmentation anomaly of the skin semapv:UnspecifiedMatching MONDO:0019288 skin pigmentation disorder skos:exactMatch UMLS:C1704421 semapv:UnspecifiedMatching MONDO:0019288 skin pigmentation disorder skos:exactMatch mesh:D010859 semapv:UnspecifiedMatching MONDO:0019289 hyperpigmentation of the skin skos:exactMatch MEDGEN:57992 semapv:UnspecifiedMatching MONDO:0019289 hyperpigmentation of the skin skos:exactMatch Orphanet:79375 Hyperpigmentation of the skin semapv:UnspecifiedMatching MONDO:0019289 hyperpigmentation of the skin skos:exactMatch SCTID:49765009 semapv:UnspecifiedMatching MONDO:0019289 hyperpigmentation of the skin skos:exactMatch UMLS:C0162834 semapv:UnspecifiedMatching MONDO:0019290 hypopigmentation of the skin skos:exactMatch MEDGEN:102477 semapv:UnspecifiedMatching MONDO:0019290 hypopigmentation of the skin skos:exactMatch Orphanet:79376 Hypopigmentation of the skin semapv:UnspecifiedMatching MONDO:0019290 hypopigmentation of the skin skos:exactMatch UMLS:C0162835 semapv:UnspecifiedMatching MONDO:0019290 hypopigmentation of the skin skos:exactMatch mesh:D017496 semapv:UnspecifiedMatching MONDO:0019291 obsolete rare genetic dermis disorder skos:exactMatch Orphanet:79377 Dermis disorder semapv:UnspecifiedMatching MONDO:0019292 obsolete dermis elastic tissue disorder skos:exactMatch Orphanet:79378 Dermis elastic tissue disorder semapv:UnspecifiedMatching MONDO:0019293 skin vascular disease skos:exactMatch DOID:9540 vascular skin disease semapv:UnspecifiedMatching MONDO:0019293 skin vascular disease skos:exactMatch MEDGEN:102473 semapv:UnspecifiedMatching MONDO:0019293 skin vascular disease skos:exactMatch NCIT:C35254 Skin Vascular Disorder semapv:UnspecifiedMatching MONDO:0019293 skin vascular disease skos:exactMatch Orphanet:79379 Skin vascular disease semapv:UnspecifiedMatching MONDO:0019293 skin vascular disease skos:exactMatch SCTID:11263005 semapv:UnspecifiedMatching MONDO:0019293 skin vascular disease skos:exactMatch UMLS:C0162819 semapv:UnspecifiedMatching MONDO:0019293 skin vascular disease skos:exactMatch mesh:D017445 semapv:UnspecifiedMatching MONDO:0019294 mixed dermis disorder skos:exactMatch MEDGEN:1842502 semapv:UnspecifiedMatching MONDO:0019294 mixed dermis disorder skos:exactMatch Orphanet:79380 Mixed dermis disorder semapv:UnspecifiedMatching MONDO:0019294 mixed dermis disorder skos:exactMatch UMLS:C5681484 semapv:UnspecifiedMatching MONDO:0019296 subcutaneous tissue disorder skos:exactMatch MEDGEN:712397 semapv:UnspecifiedMatching MONDO:0019296 subcutaneous tissue disorder skos:exactMatch Orphanet:79382 Subcutaneous tissue disease semapv:UnspecifiedMatching MONDO:0019296 subcutaneous tissue disorder skos:exactMatch UMLS:C1290008 semapv:UnspecifiedMatching MONDO:0019297 lymphedema skos:exactMatch DOID:4977 lymphedema semapv:UnspecifiedMatching MONDO:0019297 lymphedema skos:exactMatch MEDGEN:6155 semapv:UnspecifiedMatching MONDO:0019297 lymphedema skos:exactMatch NCIT:C3207 Lymphedema semapv:UnspecifiedMatching MONDO:0019297 lymphedema skos:exactMatch SCTID:234097001 semapv:UnspecifiedMatching MONDO:0019297 lymphedema skos:exactMatch UMLS:C0024236 semapv:UnspecifiedMatching MONDO:0019297 lymphedema skos:exactMatch mesh:D008209 semapv:UnspecifiedMatching MONDO:0019298 obsolete rare urticaria skos:exactMatch Orphanet:79384 Rare urticaria semapv:UnspecifiedMatching MONDO:0019299 obsolete unclassified genetic skin disorder skos:exactMatch Orphanet:79385 Unclassified genetic skin disorder semapv:UnspecifiedMatching MONDO:0019300 obsolete rare skin tumor or hamartoma skos:exactMatch Orphanet:79386 Rare skin tumor or hamartoma semapv:UnspecifiedMatching MONDO:0019301 obsolete metabolic disease with skin involvement skos:exactMatch Orphanet:79387 Metabolic disease with skin involvement semapv:UnspecifiedMatching MONDO:0019303 premature aging syndrome skos:exactMatch MEDGEN:65416 semapv:UnspecifiedMatching MONDO:0019303 premature aging syndrome skos:exactMatch Orphanet:79389 Premature aging semapv:UnspecifiedMatching MONDO:0019303 premature aging syndrome skos:exactMatch UMLS:C0231341 semapv:UnspecifiedMatching MONDO:0019303 premature aging syndrome skos:exactMatch mesh:D019588 semapv:UnspecifiedMatching MONDO:0019304 obsolete rare photodermatosis skos:exactMatch Orphanet:79390 Rare photodermatosis semapv:UnspecifiedMatching MONDO:0019305 obsolete immune deficiency with skin involvement skos:exactMatch Orphanet:79391 Immune deficiency with skin involvement semapv:UnspecifiedMatching MONDO:0019306 congenital non-bullous ichthyosiform erythroderma skos:exactMatch MEDGEN:38180 semapv:UnspecifiedMatching MONDO:0019306 congenital non-bullous ichthyosiform erythroderma skos:exactMatch Orphanet:79394 Congenital ichthyosiform erythroderma semapv:UnspecifiedMatching MONDO:0019306 congenital non-bullous ichthyosiform erythroderma skos:exactMatch SCTID:205550003 semapv:UnspecifiedMatching MONDO:0019306 congenital non-bullous ichthyosiform erythroderma skos:exactMatch UMLS:C0079154 semapv:UnspecifiedMatching MONDO:0019306 congenital non-bullous ichthyosiform erythroderma skos:exactMatch icd11.foundation:546439698 Congenital non-bullous ichthyosiform erythroderma semapv:UnspecifiedMatching MONDO:0019307 generalized junctional epidermolysis bullosa non-Herlitz type skos:exactMatch DOID:0060738 junctional epidermolysis bullosa non-Herlitz type semapv:UnspecifiedMatching MONDO:0019307 generalized junctional epidermolysis bullosa non-Herlitz type skos:exactMatch MEDGEN:609458 semapv:UnspecifiedMatching MONDO:0019307 generalized junctional epidermolysis bullosa non-Herlitz type skos:exactMatch Orphanet:79402 Intermediate generalized junctional epidermolysis bullosa semapv:UnspecifiedMatching MONDO:0019307 generalized junctional epidermolysis bullosa non-Herlitz type skos:exactMatch SCTID:724225008 semapv:UnspecifiedMatching MONDO:0019307 generalized junctional epidermolysis bullosa non-Herlitz type skos:exactMatch UMLS:C0432326 semapv:UnspecifiedMatching MONDO:0019308 junctional epidermolysis bullosa inversa skos:exactMatch MEDGEN:382142 semapv:UnspecifiedMatching MONDO:0019308 junctional epidermolysis bullosa inversa skos:exactMatch Orphanet:79405 Junctional epidermolysis bullosa inversa semapv:UnspecifiedMatching MONDO:0019308 junctional epidermolysis bullosa inversa skos:exactMatch UMLS:C2673609 semapv:UnspecifiedMatching MONDO:0019308 junctional epidermolysis bullosa inversa skos:exactMatch icd11.foundation:1191822552 Junctional epidermolysis bullosa inversa semapv:UnspecifiedMatching MONDO:0019309 late-onset junctional epidermolysis bullosa skos:exactMatch MEDGEN:930393 semapv:UnspecifiedMatching MONDO:0019309 late-onset junctional epidermolysis bullosa skos:exactMatch Orphanet:79406 Late-onset junctional epidermolysis bullosa semapv:UnspecifiedMatching MONDO:0019309 late-onset junctional epidermolysis bullosa skos:exactMatch SCTID:719432000 semapv:UnspecifiedMatching MONDO:0019309 late-onset junctional epidermolysis bullosa skos:exactMatch UMLS:C4304724 semapv:UnspecifiedMatching MONDO:0019310 recessive dystrophic epidermolysis bullosa inversa skos:exactMatch MEDGEN:698413 semapv:UnspecifiedMatching MONDO:0019310 recessive dystrophic epidermolysis bullosa inversa skos:exactMatch Orphanet:79409 Recessive dystrophic epidermolysis bullosa inversa semapv:UnspecifiedMatching MONDO:0019310 recessive dystrophic epidermolysis bullosa inversa skos:exactMatch UMLS:C1275113 semapv:UnspecifiedMatching MONDO:0019310 recessive dystrophic epidermolysis bullosa inversa skos:exactMatch icd11.foundation:495465277 Recessive dystrophic epidermolysis bullosa inversa semapv:UnspecifiedMatching MONDO:0019311 wooly hair nevus skos:exactMatch MEDGEN:575391 semapv:UnspecifiedMatching MONDO:0019311 wooly hair nevus skos:exactMatch Orphanet:79414 Woolly hair nevus semapv:UnspecifiedMatching MONDO:0019311 wooly hair nevus skos:exactMatch SCTID:239124001 semapv:UnspecifiedMatching MONDO:0019311 wooly hair nevus skos:exactMatch UMLS:C0343114 semapv:UnspecifiedMatching MONDO:0019312 Hermansky-Pudlak syndrome skos:exactMatch DOID:3753 Hermansky-Pudlak syndrome semapv:UnspecifiedMatching MONDO:0019312 Hermansky-Pudlak syndrome skos:exactMatch ICD10CM:E70.331 Hermansky-Pudlak syndrome semapv:UnspecifiedMatching MONDO:0019312 Hermansky-Pudlak syndrome skos:exactMatch MEDGEN:36313 semapv:UnspecifiedMatching MONDO:0019312 Hermansky-Pudlak syndrome skos:exactMatch NCIT:C37261 Hermansky-Pudlak Syndrome semapv:UnspecifiedMatching MONDO:0019312 Hermansky-Pudlak syndrome skos:exactMatch OMIMPS:203300 Hermansky-Pudlak syndrome semapv:UnspecifiedMatching MONDO:0019312 Hermansky-Pudlak syndrome skos:exactMatch Orphanet:79430 Hermansky-Pudlak syndrome semapv:UnspecifiedMatching MONDO:0019312 Hermansky-Pudlak syndrome skos:exactMatch SCTID:9311003 semapv:UnspecifiedMatching MONDO:0019312 Hermansky-Pudlak syndrome skos:exactMatch UMLS:C0079504 semapv:UnspecifiedMatching MONDO:0019312 Hermansky-Pudlak syndrome skos:exactMatch icd11.foundation:2089801290 Hermansky-Pudlak syndrome semapv:UnspecifiedMatching MONDO:0019312 Hermansky-Pudlak syndrome skos:exactMatch mesh:D022861 semapv:UnspecifiedMatching MONDO:0019313 lymphatic malformation skos:exactMatch DOID:0050580 hereditary lymphedema semapv:UnspecifiedMatching MONDO:0019313 lymphatic malformation skos:exactMatch ICD10CM:Q82.0 Hereditary lymphedema semapv:UnspecifiedMatching MONDO:0019313 lymphatic malformation skos:exactMatch MEDGEN:140763 semapv:UnspecifiedMatching MONDO:0019313 lymphatic malformation skos:exactMatch OMIMPS:153100 Lymphatic malformation semapv:UnspecifiedMatching MONDO:0019313 lymphatic malformation skos:exactMatch SCTID:254199006 semapv:UnspecifiedMatching MONDO:0019313 lymphatic malformation skos:exactMatch UMLS:C0398368 semapv:UnspecifiedMatching MONDO:0019314 cutaneous mastocytoma skos:exactMatch MEDGEN:83357 semapv:UnspecifiedMatching MONDO:0019314 cutaneous mastocytoma skos:exactMatch Orphanet:79455 Cutaneous mastocytoma semapv:UnspecifiedMatching MONDO:0019314 cutaneous mastocytoma skos:exactMatch UMLS:C0343115 semapv:UnspecifiedMatching MONDO:0019314 cutaneous mastocytoma skos:exactMatch icd11.foundation:1853236564 Cutaneous mastocytoma semapv:UnspecifiedMatching MONDO:0019315 diffuse cutaneous mastocytosis skos:exactMatch DOID:3665 diffuse cutaneous mastocytosis semapv:UnspecifiedMatching MONDO:0019315 diffuse cutaneous mastocytosis skos:exactMatch MEDGEN:44303 semapv:UnspecifiedMatching MONDO:0019315 diffuse cutaneous mastocytosis skos:exactMatch NCIT:C3218 Diffuse Cutaneous Mastocytosis semapv:UnspecifiedMatching MONDO:0019315 diffuse cutaneous mastocytosis skos:exactMatch Orphanet:79456 Diffuse cutaneous mastocytosis semapv:UnspecifiedMatching MONDO:0019315 diffuse cutaneous mastocytosis skos:exactMatch UMLS:C0024901 semapv:UnspecifiedMatching MONDO:0019315 diffuse cutaneous mastocytosis skos:exactMatch icd11.foundation:193128939 Diffuse cutaneous mastocytosis semapv:UnspecifiedMatching MONDO:0019316 maculopapular cutaneous mastocytosis skos:exactMatch DOID:12309 urticaria pigmentosa semapv:UnspecifiedMatching MONDO:0019316 maculopapular cutaneous mastocytosis skos:exactMatch EFO:1001229 semapv:UnspecifiedMatching MONDO:0019316 maculopapular cutaneous mastocytosis skos:exactMatch MEDGEN:22588 semapv:UnspecifiedMatching MONDO:0019316 maculopapular cutaneous mastocytosis skos:exactMatch NCIT:C3433 Urticaria Pigmentosa/Maculopapular Cutaneous Mastocytosis semapv:UnspecifiedMatching MONDO:0019316 maculopapular cutaneous mastocytosis skos:exactMatch Orphanet:79457 Maculopapular cutaneous mastocytosis semapv:UnspecifiedMatching MONDO:0019316 maculopapular cutaneous mastocytosis skos:exactMatch SCTID:78745000 semapv:UnspecifiedMatching MONDO:0019316 maculopapular cutaneous mastocytosis skos:exactMatch UMLS:C0042111 semapv:UnspecifiedMatching MONDO:0019316 maculopapular cutaneous mastocytosis skos:exactMatch icd11.foundation:245322245 Urticaria pigmentosa semapv:UnspecifiedMatching MONDO:0019318 inflammatory linear verrucous epidermal nevus skos:exactMatch MEDGEN:96878 semapv:UnspecifiedMatching MONDO:0019318 inflammatory linear verrucous epidermal nevus skos:exactMatch Orphanet:79466 Inflammatory linear verrucous epidermal nevus semapv:UnspecifiedMatching MONDO:0019318 inflammatory linear verrucous epidermal nevus skos:exactMatch SCTID:399995006 semapv:UnspecifiedMatching MONDO:0019318 inflammatory linear verrucous epidermal nevus skos:exactMatch UMLS:C0473574 semapv:UnspecifiedMatching MONDO:0019319 verrucous nevus skos:exactMatch MEDGEN:83927 semapv:UnspecifiedMatching MONDO:0019319 verrucous nevus skos:exactMatch NCIT:C4674 Verrucous Nevus semapv:UnspecifiedMatching MONDO:0019319 verrucous nevus skos:exactMatch Orphanet:79467 Verrucous nevus semapv:UnspecifiedMatching MONDO:0019319 verrucous nevus skos:exactMatch SCTID:398723007 semapv:UnspecifiedMatching MONDO:0019319 verrucous nevus skos:exactMatch UMLS:C0362030 semapv:UnspecifiedMatching MONDO:0019320 acanthokeratolytic verrucous nevus skos:exactMatch MEDGEN:1826155 semapv:UnspecifiedMatching MONDO:0019320 acanthokeratolytic verrucous nevus skos:exactMatch Orphanet:79468 Acanthokeratolytic verrucous nevus semapv:UnspecifiedMatching MONDO:0019320 acanthokeratolytic verrucous nevus skos:exactMatch UMLS:C5681486 semapv:UnspecifiedMatching MONDO:0019321 atypical Werner syndrome skos:exactMatch MEDGEN:894770 semapv:UnspecifiedMatching MONDO:0019321 atypical Werner syndrome skos:exactMatch Orphanet:79474 Atypical Werner syndrome semapv:UnspecifiedMatching MONDO:0019321 atypical Werner syndrome skos:exactMatch SCTID:715633008 semapv:UnspecifiedMatching MONDO:0019321 atypical Werner syndrome skos:exactMatch UMLS:C4275075 semapv:UnspecifiedMatching MONDO:0019321 atypical Werner syndrome skos:exactMatch icd11.foundation:1661142154 Atypical Werner syndrome semapv:UnspecifiedMatching MONDO:0019322 pemphigus vegetans skos:exactMatch EFO:0008613 semapv:UnspecifiedMatching MONDO:0019322 pemphigus vegetans skos:exactMatch ICD10CM:L10.1 Pemphigus vegetans semapv:UnspecifiedMatching MONDO:0019322 pemphigus vegetans skos:exactMatch MEDGEN:537814 semapv:UnspecifiedMatching MONDO:0019322 pemphigus vegetans skos:exactMatch Orphanet:79479 Pemphigus vegetans semapv:UnspecifiedMatching MONDO:0019322 pemphigus vegetans skos:exactMatch SCTID:81285006 semapv:UnspecifiedMatching MONDO:0019322 pemphigus vegetans skos:exactMatch UMLS:C0263316 semapv:UnspecifiedMatching MONDO:0019322 pemphigus vegetans skos:exactMatch icd11.foundation:1977394957 Pemphigus vegetans semapv:UnspecifiedMatching MONDO:0019323 pemphigus erythematosus skos:exactMatch EFO:0008603 semapv:UnspecifiedMatching MONDO:0019323 pemphigus erythematosus skos:exactMatch ICD10CM:L10.4 Pemphigus erythematosus semapv:UnspecifiedMatching MONDO:0019323 pemphigus erythematosus skos:exactMatch MEDGEN:537812 semapv:UnspecifiedMatching MONDO:0019323 pemphigus erythematosus skos:exactMatch Orphanet:79480 Pemphigus erythematosus semapv:UnspecifiedMatching MONDO:0019323 pemphigus erythematosus skos:exactMatch SCTID:36739006 semapv:UnspecifiedMatching MONDO:0019323 pemphigus erythematosus skos:exactMatch UMLS:C0263312 semapv:UnspecifiedMatching MONDO:0019323 pemphigus erythematosus skos:exactMatch icd11.foundation:399813106 Pemphigus erythematosus semapv:UnspecifiedMatching MONDO:0019324 pemphigus foliaceus skos:exactMatch DOID:0080850 pemphigus foliaceus semapv:UnspecifiedMatching MONDO:0019324 pemphigus foliaceus skos:exactMatch EFO:0008601 semapv:UnspecifiedMatching MONDO:0019324 pemphigus foliaceus skos:exactMatch MEDGEN:75513 semapv:UnspecifiedMatching MONDO:0019324 pemphigus foliaceus skos:exactMatch Orphanet:79481 Pemphigus foliaceus semapv:UnspecifiedMatching MONDO:0019324 pemphigus foliaceus skos:exactMatch SCTID:35154004 semapv:UnspecifiedMatching MONDO:0019324 pemphigus foliaceus skos:exactMatch UMLS:C0263313 semapv:UnspecifiedMatching MONDO:0019324 pemphigus foliaceus skos:exactMatch icd11.foundation:24246260 Pemphigus foliaceus semapv:UnspecifiedMatching MONDO:0019325 phakomatosis cesioflammea skos:exactMatch MEDGEN:824729 semapv:UnspecifiedMatching MONDO:0019325 phakomatosis cesioflammea skos:exactMatch Orphanet:79483 Phakomatosis cesioflammea semapv:UnspecifiedMatching MONDO:0019325 phakomatosis cesioflammea skos:exactMatch SCTID:703284009 semapv:UnspecifiedMatching MONDO:0019325 phakomatosis cesioflammea skos:exactMatch UMLS:C3838883 semapv:UnspecifiedMatching MONDO:0019326 phakomatosis cesiomarmorata skos:exactMatch MEDGEN:825141 semapv:UnspecifiedMatching MONDO:0019326 phakomatosis cesiomarmorata skos:exactMatch Orphanet:79484 Phakomatosis cesiomarmorata semapv:UnspecifiedMatching MONDO:0019326 phakomatosis cesiomarmorata skos:exactMatch SCTID:703286006 semapv:UnspecifiedMatching MONDO:0019326 phakomatosis cesiomarmorata skos:exactMatch UMLS:C3839296 semapv:UnspecifiedMatching MONDO:0019327 phakomatosis spilorosea skos:exactMatch MEDGEN:825608 semapv:UnspecifiedMatching MONDO:0019327 phakomatosis spilorosea skos:exactMatch Orphanet:79485 Phakomatosis spilorosea semapv:UnspecifiedMatching MONDO:0019327 phakomatosis spilorosea skos:exactMatch SCTID:703285005 semapv:UnspecifiedMatching MONDO:0019327 phakomatosis spilorosea skos:exactMatch UMLS:C3839763 semapv:UnspecifiedMatching MONDO:0019327 phakomatosis spilorosea skos:exactMatch icd11.foundation:1064958823 Phakomatosis spilorosea semapv:UnspecifiedMatching MONDO:0019328 macrocystic lymphatic malformation skos:exactMatch MEDGEN:104729 semapv:UnspecifiedMatching MONDO:0019328 macrocystic lymphatic malformation skos:exactMatch NCIT:C53316 Cavernous Lymphangioma semapv:UnspecifiedMatching MONDO:0019328 macrocystic lymphatic malformation skos:exactMatch Orphanet:79489 Macrocystic lymphatic malformation semapv:UnspecifiedMatching MONDO:0019328 macrocystic lymphatic malformation skos:exactMatch UMLS:C0205828 semapv:UnspecifiedMatching MONDO:0019328 macrocystic lymphatic malformation skos:exactMatch icd11.foundation:1525487462 Macrocystic lymphatic malformation semapv:UnspecifiedMatching MONDO:0019329 microcystic lymphatic malformation skos:exactMatch MEDGEN:1843242 semapv:UnspecifiedMatching MONDO:0019329 microcystic lymphatic malformation skos:exactMatch NCIT:C45485 Lymphangioma Circumscriptum semapv:UnspecifiedMatching MONDO:0019329 microcystic lymphatic malformation skos:exactMatch Orphanet:79490 Microcystic lymphatic malformation semapv:UnspecifiedMatching MONDO:0019329 microcystic lymphatic malformation skos:exactMatch UMLS:C4738056 semapv:UnspecifiedMatching MONDO:0019329 microcystic lymphatic malformation skos:exactMatch icd11.foundation:1796778763 Microcystic lymphatic malformation semapv:UnspecifiedMatching MONDO:0019330 pili gemini skos:exactMatch MEDGEN:42460 semapv:UnspecifiedMatching MONDO:0019330 pili gemini skos:exactMatch Orphanet:79492 Pili gemini semapv:UnspecifiedMatching MONDO:0019330 pili gemini skos:exactMatch SCTID:42829009 semapv:UnspecifiedMatching MONDO:0019330 pili gemini skos:exactMatch UMLS:C0019571 semapv:UnspecifiedMatching MONDO:0019330 pili gemini skos:exactMatch mesh:C537188 semapv:UnspecifiedMatching MONDO:0019332 punctate palmoplantar keratoderma type 1 skos:exactMatch MEDGEN:372099 semapv:UnspecifiedMatching MONDO:0019332 punctate palmoplantar keratoderma type 1 skos:exactMatch Orphanet:79501 Punctate palmoplantar keratoderma type 1 semapv:UnspecifiedMatching MONDO:0019332 punctate palmoplantar keratoderma type 1 skos:exactMatch SCTID:717184007 semapv:UnspecifiedMatching MONDO:0019332 punctate palmoplantar keratoderma type 1 skos:exactMatch UMLS:C1835662 semapv:UnspecifiedMatching MONDO:0019333 autosomal recessive hyperinsulinism due to SUR1 deficiency skos:exactMatch MEDGEN:1683144 semapv:UnspecifiedMatching MONDO:0019333 autosomal recessive hyperinsulinism due to SUR1 deficiency skos:exactMatch Orphanet:79643 Autosomal recessive hyperinsulinism due to SUR1 deficiency semapv:UnspecifiedMatching MONDO:0019333 autosomal recessive hyperinsulinism due to SUR1 deficiency skos:exactMatch UMLS:C5191077 semapv:UnspecifiedMatching MONDO:0019334 autosomal recessive hyperinsulinism due to Kir6.2 deficiency skos:exactMatch MEDGEN:1677653 semapv:UnspecifiedMatching MONDO:0019334 autosomal recessive hyperinsulinism due to Kir6.2 deficiency skos:exactMatch Orphanet:79644 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency semapv:UnspecifiedMatching MONDO:0019334 autosomal recessive hyperinsulinism due to Kir6.2 deficiency skos:exactMatch UMLS:C5191078 semapv:UnspecifiedMatching MONDO:0019335 mild hyperphenylalaninemia skos:exactMatch MEDGEN:1843033 semapv:UnspecifiedMatching MONDO:0019335 mild hyperphenylalaninemia skos:exactMatch Orphanet:79651 Mild hyperphenylalaninemia semapv:UnspecifiedMatching MONDO:0019335 mild hyperphenylalaninemia skos:exactMatch UMLS:C5680207 semapv:UnspecifiedMatching MONDO:0019336 Gardner syndrome skos:exactMatch MEDGEN:6547 semapv:UnspecifiedMatching MONDO:0019336 Gardner syndrome skos:exactMatch NCIT:C6728 Gardner Syndrome semapv:UnspecifiedMatching MONDO:0019336 Gardner syndrome skos:exactMatch SCTID:60876000 semapv:UnspecifiedMatching MONDO:0019336 Gardner syndrome skos:exactMatch UMLS:C0017097 semapv:UnspecifiedMatching MONDO:0019336 Gardner syndrome skos:exactMatch icd11.foundation:1428130769 Gardner syndrome semapv:UnspecifiedMatching MONDO:0019336 Gardner syndrome skos:exactMatch mesh:D005736 semapv:UnspecifiedMatching MONDO:0019337 autoimmune bullous skin disease skos:exactMatch DOID:8502 bullous skin disease semapv:UnspecifiedMatching MONDO:0019337 autoimmune bullous skin disease skos:exactMatch EFO:0008598 semapv:UnspecifiedMatching MONDO:0019337 autoimmune bullous skin disease skos:exactMatch MEDGEN:1842418 semapv:UnspecifiedMatching MONDO:0019337 autoimmune bullous skin disease skos:exactMatch Orphanet:79669 Autoimmune bullous skin disease semapv:UnspecifiedMatching MONDO:0019337 autoimmune bullous skin disease skos:exactMatch SCTID:7231009 semapv:UnspecifiedMatching MONDO:0019337 autoimmune bullous skin disease skos:exactMatch UMLS:C5681494 semapv:UnspecifiedMatching MONDO:0019338 sarcoidosis skos:exactMatch DOID:11335 sarcoidosis semapv:UnspecifiedMatching MONDO:0019338 sarcoidosis skos:exactMatch ICD10CM:D86 Sarcoidosis semapv:UnspecifiedMatching MONDO:0019338 sarcoidosis skos:exactMatch ICD10WHO:D86 Sarcoidosis semapv:UnspecifiedMatching MONDO:0019338 sarcoidosis skos:exactMatch MEDGEN:48554 semapv:UnspecifiedMatching MONDO:0019338 sarcoidosis skos:exactMatch NCIT:C34995 Sarcoidosis semapv:UnspecifiedMatching MONDO:0019338 sarcoidosis skos:exactMatch Orphanet:797 Sarcoidosis semapv:UnspecifiedMatching MONDO:0019338 sarcoidosis skos:exactMatch SCTID:31541009 semapv:UnspecifiedMatching MONDO:0019338 sarcoidosis skos:exactMatch UMLS:C0036202 semapv:UnspecifiedMatching MONDO:0019338 sarcoidosis skos:exactMatch icd11.foundation:330792642 Sarcoidosis semapv:UnspecifiedMatching MONDO:0019338 sarcoidosis skos:exactMatch mesh:D012507 semapv:UnspecifiedMatching MONDO:0019339 47,XYY syndrome skos:exactMatch MEDGEN:473794 semapv:UnspecifiedMatching MONDO:0019339 47,XYY syndrome skos:exactMatch NCIT:C85237 47,XYY Syndrome semapv:UnspecifiedMatching MONDO:0019339 47,XYY syndrome skos:exactMatch Orphanet:8 47,XYY syndrome semapv:UnspecifiedMatching MONDO:0019339 47,XYY syndrome skos:exactMatch SCTID:50749006 semapv:UnspecifiedMatching MONDO:0019339 47,XYY syndrome skos:exactMatch UMLS:C3266843 semapv:UnspecifiedMatching MONDO:0019339 47,XYY syndrome skos:exactMatch mesh:C535317 semapv:UnspecifiedMatching MONDO:0019340 scleroderma skos:exactMatch DOID:419 scleroderma semapv:UnspecifiedMatching MONDO:0019340 scleroderma skos:exactMatch EFO:1001993 semapv:UnspecifiedMatching MONDO:0019340 scleroderma skos:exactMatch MEDGEN:3770 semapv:UnspecifiedMatching MONDO:0019340 scleroderma skos:exactMatch NCIT:C26746 Scleroderma semapv:UnspecifiedMatching MONDO:0019340 scleroderma skos:exactMatch Orphanet:801 Scleroderma semapv:UnspecifiedMatching MONDO:0019340 scleroderma skos:exactMatch UMLS:C0011644 semapv:UnspecifiedMatching MONDO:0019342 Seckel syndrome skos:exactMatch DOID:0050569 Seckel syndrome semapv:UnspecifiedMatching MONDO:0019342 Seckel syndrome skos:exactMatch MEDGEN:78534 semapv:UnspecifiedMatching MONDO:0019342 Seckel syndrome skos:exactMatch NCIT:C125488 Seckel Syndrome semapv:UnspecifiedMatching MONDO:0019342 Seckel syndrome skos:exactMatch OMIMPS:210600 Seckel syndrome semapv:UnspecifiedMatching MONDO:0019342 Seckel syndrome skos:exactMatch Orphanet:808 Seckel syndrome semapv:UnspecifiedMatching MONDO:0019342 Seckel syndrome skos:exactMatch SCTID:57917004 semapv:UnspecifiedMatching MONDO:0019342 Seckel syndrome skos:exactMatch UMLS:C0265202 semapv:UnspecifiedMatching MONDO:0019342 Seckel syndrome skos:exactMatch icd11.foundation:952199295 Seckel syndrome semapv:UnspecifiedMatching MONDO:0019344 antisynthetase syndrome skos:exactMatch DOID:0080744 antisynthetase syndrome semapv:UnspecifiedMatching MONDO:0019344 antisynthetase syndrome skos:exactMatch EFO:1001982 semapv:UnspecifiedMatching MONDO:0019344 antisynthetase syndrome skos:exactMatch MEDGEN:1866768 semapv:UnspecifiedMatching MONDO:0019344 antisynthetase syndrome skos:exactMatch Orphanet:81 Antisynthetase syndrome semapv:UnspecifiedMatching MONDO:0019344 antisynthetase syndrome skos:exactMatch SCTID:445187004 semapv:UnspecifiedMatching MONDO:0019344 antisynthetase syndrome skos:exactMatch UMLS:C5959873 semapv:UnspecifiedMatching MONDO:0019344 antisynthetase syndrome skos:exactMatch icd11.foundation:1572057936 Antisynthetase syndrome semapv:UnspecifiedMatching MONDO:0019344 antisynthetase syndrome skos:exactMatch mesh:C537778 semapv:UnspecifiedMatching MONDO:0019345 shigellosis skos:exactMatch DOID:12385 shigellosis semapv:UnspecifiedMatching MONDO:0019345 shigellosis skos:exactMatch EFO:0005585 semapv:UnspecifiedMatching MONDO:0019345 shigellosis skos:exactMatch ICD10CM:A03 Shigellosis semapv:UnspecifiedMatching MONDO:0019345 shigellosis skos:exactMatch ICD10WHO:A03 Shigellosis semapv:UnspecifiedMatching MONDO:0019345 shigellosis skos:exactMatch MEDGEN:8513 semapv:UnspecifiedMatching MONDO:0019345 shigellosis skos:exactMatch NCIT:C157978 Shigellosis semapv:UnspecifiedMatching MONDO:0019345 shigellosis skos:exactMatch Orphanet:810 Shigellosis semapv:UnspecifiedMatching MONDO:0019345 shigellosis skos:exactMatch SCTID:36188001 semapv:UnspecifiedMatching MONDO:0019345 shigellosis skos:exactMatch UMLS:C0013371 semapv:UnspecifiedMatching MONDO:0019345 shigellosis skos:exactMatch icd11.foundation:2080365623 Intestinal infections due to Shigella semapv:UnspecifiedMatching MONDO:0019345 shigellosis skos:exactMatch mesh:D004405 semapv:UnspecifiedMatching MONDO:0019346 sialidosis type 1 skos:exactMatch MEDGEN:44174 semapv:UnspecifiedMatching MONDO:0019346 sialidosis type 1 skos:exactMatch Orphanet:812 Sialidosis type 1 semapv:UnspecifiedMatching MONDO:0019346 sialidosis type 1 skos:exactMatch SCTID:34960006 semapv:UnspecifiedMatching MONDO:0019346 sialidosis type 1 skos:exactMatch SCTID:723675006 semapv:UnspecifiedMatching MONDO:0019346 sialidosis type 1 skos:exactMatch UMLS:C0023806 semapv:UnspecifiedMatching MONDO:0019346 sialidosis type 1 skos:exactMatch icd11.foundation:1154773192 Sialidosis type 1 semapv:UnspecifiedMatching MONDO:0019347 peeling skin syndrome skos:exactMatch DOID:0060283 peeling skin syndrome semapv:UnspecifiedMatching MONDO:0019347 peeling skin syndrome skos:exactMatch MEDGEN:336530 semapv:UnspecifiedMatching MONDO:0019347 peeling skin syndrome skos:exactMatch OMIMPS:270300 Peeling skin syndrome semapv:UnspecifiedMatching MONDO:0019347 peeling skin syndrome skos:exactMatch Orphanet:817 Peeling skin syndrome semapv:UnspecifiedMatching MONDO:0019347 peeling skin syndrome skos:exactMatch SCTID:239065004 semapv:UnspecifiedMatching MONDO:0019347 peeling skin syndrome skos:exactMatch UMLS:C1849193 semapv:UnspecifiedMatching MONDO:0019347 peeling skin syndrome skos:exactMatch icd11.foundation:523640904 Hereditary skin peeling semapv:UnspecifiedMatching MONDO:0019348 obsolete Ehlers-Danlos syndrome with periventricular heterotopia skos:exactMatch OMIM:300537 semapv:UnspecifiedMatching MONDO:0019348 obsolete Ehlers-Danlos syndrome with periventricular heterotopia skos:exactMatch Orphanet:82004 Ehlers-Danlos syndrome with periventricular heterotopia semapv:UnspecifiedMatching MONDO:0019348 obsolete Ehlers-Danlos syndrome with periventricular heterotopia skos:exactMatch SCTID:720857006 semapv:UnspecifiedMatching MONDO:0019349 Sotos syndrome skos:exactMatch DOID:0112103 Sotos syndrome 1 semapv:UnspecifiedMatching MONDO:0019349 Sotos syndrome skos:exactMatch DOID:14748 Sotos syndrome semapv:UnspecifiedMatching MONDO:0019349 Sotos syndrome skos:exactMatch MEDGEN:61232 semapv:UnspecifiedMatching MONDO:0019349 Sotos syndrome skos:exactMatch NCIT:C75019 Sotos Syndrome semapv:UnspecifiedMatching MONDO:0019349 Sotos syndrome skos:exactMatch OMIM:117550 SOTOS syndrome semapv:UnspecifiedMatching MONDO:0019349 Sotos syndrome skos:exactMatch Orphanet:821 Sotos syndrome semapv:UnspecifiedMatching MONDO:0019349 Sotos syndrome skos:exactMatch SCTID:75968004 semapv:UnspecifiedMatching MONDO:0019349 Sotos syndrome skos:exactMatch UMLS:C0175695 semapv:UnspecifiedMatching MONDO:0019349 Sotos syndrome skos:exactMatch icd11.foundation:1887392960 Sotos syndrome semapv:UnspecifiedMatching MONDO:0019349 Sotos syndrome skos:exactMatch mesh:D058495 semapv:UnspecifiedMatching MONDO:0019350 hereditary spherocytosis skos:exactMatch DOID:12971 hereditary spherocytosis semapv:UnspecifiedMatching MONDO:0019350 hereditary spherocytosis skos:exactMatch ICD10CM:D58.0 Hereditary spherocytosis semapv:UnspecifiedMatching MONDO:0019350 hereditary spherocytosis skos:exactMatch MEDGEN:52450 semapv:UnspecifiedMatching MONDO:0019350 hereditary spherocytosis skos:exactMatch NCIT:C97074 Hereditary Spherocytosis semapv:UnspecifiedMatching MONDO:0019350 hereditary spherocytosis skos:exactMatch Orphanet:822 Hereditary spherocytosis semapv:UnspecifiedMatching MONDO:0019350 hereditary spherocytosis skos:exactMatch SCTID:55995005 semapv:UnspecifiedMatching MONDO:0019350 hereditary spherocytosis skos:exactMatch UMLS:C0037889 semapv:UnspecifiedMatching MONDO:0019350 hereditary spherocytosis skos:exactMatch icd11.foundation:1305248013 Hereditary spherocytosis semapv:UnspecifiedMatching MONDO:0019350 hereditary spherocytosis skos:exactMatch mesh:D013103 semapv:UnspecifiedMatching MONDO:0019351 isolated spina bifida skos:exactMatch Orphanet:823 Spina bifida and other spinal dysraphisms semapv:UnspecifiedMatching MONDO:0019353 Stargardt disease skos:exactMatch DOID:0050817 Stargardt disease semapv:UnspecifiedMatching MONDO:0019353 Stargardt disease skos:exactMatch MEDGEN:75734 semapv:UnspecifiedMatching MONDO:0019353 Stargardt disease skos:exactMatch NCIT:C85078 Stargardt Disease semapv:UnspecifiedMatching MONDO:0019353 Stargardt disease skos:exactMatch OMIMPS:248200 Stargardt disease semapv:UnspecifiedMatching MONDO:0019353 Stargardt disease skos:exactMatch Orphanet:827 Stargardt disease semapv:UnspecifiedMatching MONDO:0019353 Stargardt disease skos:exactMatch SCTID:47673003 semapv:UnspecifiedMatching MONDO:0019353 Stargardt disease skos:exactMatch UMLS:C0271093 semapv:UnspecifiedMatching MONDO:0019353 Stargardt disease skos:exactMatch icd11.foundation:1690038580 Stargardt disease semapv:UnspecifiedMatching MONDO:0019353 Stargardt disease skos:exactMatch mesh:D000080362 semapv:UnspecifiedMatching MONDO:0019354 Stickler syndrome skos:exactMatch DOID:0080046 Stickler syndrome semapv:UnspecifiedMatching MONDO:0019354 Stickler syndrome skos:exactMatch MEDGEN:120521 semapv:UnspecifiedMatching MONDO:0019354 Stickler syndrome skos:exactMatch NCIT:C74984 Stickler Syndrome semapv:UnspecifiedMatching MONDO:0019354 Stickler syndrome skos:exactMatch OMIMPS:108300 Stickler syndrome semapv:UnspecifiedMatching MONDO:0019354 Stickler syndrome skos:exactMatch Orphanet:828 Stickler syndrome semapv:UnspecifiedMatching MONDO:0019354 Stickler syndrome skos:exactMatch SCTID:78675000 semapv:UnspecifiedMatching MONDO:0019354 Stickler syndrome skos:exactMatch UMLS:C0265253 semapv:UnspecifiedMatching MONDO:0019354 Stickler syndrome skos:exactMatch icd11.foundation:246271691 Stickler syndrome semapv:UnspecifiedMatching MONDO:0019355 adult-onset Still disease skos:exactMatch DOID:14256 adult-onset Still's disease semapv:UnspecifiedMatching MONDO:0019355 adult-onset Still disease skos:exactMatch EFO:0007135 semapv:UnspecifiedMatching MONDO:0019355 adult-onset Still disease skos:exactMatch ICD10CM:M06.1 Adult-onset Still's disease semapv:UnspecifiedMatching MONDO:0019355 adult-onset Still disease skos:exactMatch MEDGEN:39007 semapv:UnspecifiedMatching MONDO:0019355 adult-onset Still disease skos:exactMatch Orphanet:829 Adult-onset Still disease semapv:UnspecifiedMatching MONDO:0019355 adult-onset Still disease skos:exactMatch SCTID:239920006 semapv:UnspecifiedMatching MONDO:0019355 adult-onset Still disease skos:exactMatch SCTID:68190001 semapv:UnspecifiedMatching MONDO:0019355 adult-onset Still disease skos:exactMatch UMLS:C0085253 semapv:UnspecifiedMatching MONDO:0019355 adult-onset Still disease skos:exactMatch icd11.foundation:549009522 Adult-onset Still disease semapv:UnspecifiedMatching MONDO:0019355 adult-onset Still disease skos:exactMatch mesh:D016706 semapv:UnspecifiedMatching MONDO:0019356 urogenital tract malformation skos:exactMatch ICD10CM:Q60-Q64 Congenital malformations of the urinary system (Q60-Q64) semapv:UnspecifiedMatching MONDO:0019356 urogenital tract malformation skos:exactMatch MEDGEN:52948 semapv:UnspecifiedMatching MONDO:0019356 urogenital tract malformation skos:exactMatch Orphanet:83001 Urogenital tract malformation semapv:UnspecifiedMatching MONDO:0019356 urogenital tract malformation skos:exactMatch UMLS:C0042063 semapv:UnspecifiedMatching MONDO:0019357 congenital narrowing of cervical spinal canal skos:exactMatch MEDGEN:1653635 semapv:UnspecifiedMatching MONDO:0019357 congenital narrowing of cervical spinal canal skos:exactMatch Orphanet:831 Congenital cervical spinal stenosis semapv:UnspecifiedMatching MONDO:0019357 congenital narrowing of cervical spinal canal skos:exactMatch UMLS:C4749275 semapv:UnspecifiedMatching MONDO:0019358 encephalopathy due to sulfite oxidase deficiency skos:exactMatch MEDGEN:894927 semapv:UnspecifiedMatching MONDO:0019358 encephalopathy due to sulfite oxidase deficiency skos:exactMatch Orphanet:833 Encephalopathy due to sulfite oxidase deficiency semapv:UnspecifiedMatching MONDO:0019358 encephalopathy due to sulfite oxidase deficiency skos:exactMatch SCTID:715980003 semapv:UnspecifiedMatching MONDO:0019358 encephalopathy due to sulfite oxidase deficiency skos:exactMatch UMLS:C4275019 semapv:UnspecifiedMatching MONDO:0019358 encephalopathy due to sulfite oxidase deficiency skos:exactMatch icd11.foundation:681037681 Encephalopathy due to sulfite oxidase deficiency semapv:UnspecifiedMatching MONDO:0019359 Rocky mountain spotted fever skos:exactMatch DOID:0050052 Rocky Mountain spotted fever semapv:UnspecifiedMatching MONDO:0019359 Rocky mountain spotted fever skos:exactMatch ICD10CM:A77.0 Spotted fever due to Rickettsia rickettsii semapv:UnspecifiedMatching MONDO:0019359 Rocky mountain spotted fever skos:exactMatch MEDGEN:48500 semapv:UnspecifiedMatching MONDO:0019359 Rocky mountain spotted fever skos:exactMatch NCIT:C128410 Rocky Mountain Spotted Fever semapv:UnspecifiedMatching MONDO:0019359 Rocky mountain spotted fever skos:exactMatch Orphanet:83311 Rocky Mountain spotted fever semapv:UnspecifiedMatching MONDO:0019359 Rocky mountain spotted fever skos:exactMatch SCTID:186772009 semapv:UnspecifiedMatching MONDO:0019359 Rocky mountain spotted fever skos:exactMatch UMLS:C0035793 semapv:UnspecifiedMatching MONDO:0019359 Rocky mountain spotted fever skos:exactMatch icd11.foundation:215936800 Spotted fever due to Rickettsia rickettsii semapv:UnspecifiedMatching MONDO:0019359 Rocky mountain spotted fever skos:exactMatch mesh:D012373 semapv:UnspecifiedMatching MONDO:0019360 rickettsialpox skos:exactMatch DOID:11103 rickettsialpox semapv:UnspecifiedMatching MONDO:0019360 rickettsialpox skos:exactMatch ICD10CM:A79.1 Rickettsialpox due to Rickettsia akari semapv:UnspecifiedMatching MONDO:0019360 rickettsialpox skos:exactMatch MEDGEN:19803 semapv:UnspecifiedMatching MONDO:0019360 rickettsialpox skos:exactMatch Orphanet:83312 Rickettsialpox semapv:UnspecifiedMatching MONDO:0019360 rickettsialpox skos:exactMatch SCTID:75096007 semapv:UnspecifiedMatching MONDO:0019360 rickettsialpox skos:exactMatch UMLS:C0035597 semapv:UnspecifiedMatching MONDO:0019360 rickettsialpox skos:exactMatch icd11.foundation:1005140361 Rickettsialpox semapv:UnspecifiedMatching MONDO:0019362 epidemic louse-borne typhus skos:exactMatch DOID:0050480 epidemic typhus semapv:UnspecifiedMatching MONDO:0019362 epidemic louse-borne typhus skos:exactMatch MEDGEN:21744 semapv:UnspecifiedMatching MONDO:0019362 epidemic louse-borne typhus skos:exactMatch NCIT:C84689 Epidemic Louse-Borne Typhus semapv:UnspecifiedMatching MONDO:0019362 epidemic louse-borne typhus skos:exactMatch Orphanet:83314 Epidemic typhus semapv:UnspecifiedMatching MONDO:0019362 epidemic louse-borne typhus skos:exactMatch UMLS:C0041473 semapv:UnspecifiedMatching MONDO:0019362 epidemic louse-borne typhus skos:exactMatch icd11.foundation:295798687 Epidemic louse-borne typhus fever due to Rickettsia prowazekii semapv:UnspecifiedMatching MONDO:0019364 pseudotyphus of California skos:exactMatch MEDGEN:1643522 semapv:UnspecifiedMatching MONDO:0019364 pseudotyphus of California skos:exactMatch Orphanet:83316 Pseudotyphus of California semapv:UnspecifiedMatching MONDO:0019364 pseudotyphus of California skos:exactMatch SCTID:764104003 semapv:UnspecifiedMatching MONDO:0019364 pseudotyphus of California skos:exactMatch UMLS:C4706680 semapv:UnspecifiedMatching MONDO:0019365 scrub typhus skos:exactMatch DOID:13371 scrub typhus semapv:UnspecifiedMatching MONDO:0019365 scrub typhus skos:exactMatch EFO:0007480 semapv:UnspecifiedMatching MONDO:0019365 scrub typhus skos:exactMatch ICD10CM:A75.3 Typhus fever due to Rickettsia tsutsugamushi semapv:UnspecifiedMatching MONDO:0019365 scrub typhus skos:exactMatch MEDGEN:48591 semapv:UnspecifiedMatching MONDO:0019365 scrub typhus skos:exactMatch Orphanet:83317 Scrub typhus semapv:UnspecifiedMatching MONDO:0019365 scrub typhus skos:exactMatch SCTID:271425001 semapv:UnspecifiedMatching MONDO:0019365 scrub typhus skos:exactMatch UMLS:C0036472 semapv:UnspecifiedMatching MONDO:0019365 scrub typhus skos:exactMatch icd11.foundation:1695340384 Typhus fever due to Orientia tsutsugamushi semapv:UnspecifiedMatching MONDO:0019365 scrub typhus skos:exactMatch mesh:D012612 semapv:UnspecifiedMatching MONDO:0019366 free sialic acid storage disease skos:exactMatch MEDGEN:419512 semapv:UnspecifiedMatching MONDO:0019366 free sialic acid storage disease skos:exactMatch Orphanet:834 Free sialic acid storage disease semapv:UnspecifiedMatching MONDO:0019366 free sialic acid storage disease skos:exactMatch SCTID:278991002 semapv:UnspecifiedMatching MONDO:0019366 free sialic acid storage disease skos:exactMatch UMLS:C2931872 semapv:UnspecifiedMatching MONDO:0019366 free sialic acid storage disease skos:exactMatch icd11.foundation:1817428569 Free sialic acid storage disease semapv:UnspecifiedMatching MONDO:0019366 free sialic acid storage disease skos:exactMatch mesh:C538523 semapv:UnspecifiedMatching MONDO:0019367 regional odontodysplasia skos:exactMatch MEDGEN:104891 semapv:UnspecifiedMatching MONDO:0019367 regional odontodysplasia skos:exactMatch Orphanet:83450 Regional odontodysplasia semapv:UnspecifiedMatching MONDO:0019367 regional odontodysplasia skos:exactMatch SCTID:66063001 semapv:UnspecifiedMatching MONDO:0019367 regional odontodysplasia skos:exactMatch UMLS:C0206554 semapv:UnspecifiedMatching MONDO:0019367 regional odontodysplasia skos:exactMatch icd11.foundation:1516505714 Regional odontodysplasia semapv:UnspecifiedMatching MONDO:0019367 regional odontodysplasia skos:exactMatch mesh:D018126 semapv:UnspecifiedMatching MONDO:0019368 florid cemento-osseous dysplasia skos:exactMatch MEDGEN:107519 semapv:UnspecifiedMatching MONDO:0019368 florid cemento-osseous dysplasia skos:exactMatch NCIT:C8381 Florid Cemento-Osseous Dysplasia semapv:UnspecifiedMatching MONDO:0019368 florid cemento-osseous dysplasia skos:exactMatch Orphanet:83451 Florid cemento-osseous dysplasia semapv:UnspecifiedMatching MONDO:0019368 florid cemento-osseous dysplasia skos:exactMatch SCTID:715634002 semapv:UnspecifiedMatching MONDO:0019368 florid cemento-osseous dysplasia skos:exactMatch UMLS:C0555197 semapv:UnspecifiedMatching MONDO:0019368 florid cemento-osseous dysplasia skos:exactMatch icd11.foundation:2031259585 Florid cemento-osseous dysplasia semapv:UnspecifiedMatching MONDO:0019368 florid cemento-osseous dysplasia skos:exactMatch mesh:C537063 semapv:UnspecifiedMatching MONDO:0019369 complex regional pain syndrome skos:exactMatch DOID:14022 algoneurodystrophy semapv:UnspecifiedMatching MONDO:0019369 complex regional pain syndrome skos:exactMatch DOID:3223 complex regional pain syndrome semapv:UnspecifiedMatching MONDO:0019369 complex regional pain syndrome skos:exactMatch EFO:1001998 semapv:UnspecifiedMatching MONDO:0019369 complex regional pain syndrome skos:exactMatch ICD10CM:M89.0 Algoneurodystrophy semapv:UnspecifiedMatching MONDO:0019369 complex regional pain syndrome skos:exactMatch MEDGEN:96846 semapv:UnspecifiedMatching MONDO:0019369 complex regional pain syndrome skos:exactMatch Orphanet:83452 Complex regional pain syndrome semapv:UnspecifiedMatching MONDO:0019369 complex regional pain syndrome skos:exactMatch SCTID:128200000 semapv:UnspecifiedMatching MONDO:0019369 complex regional pain syndrome skos:exactMatch UMLS:C0458219 semapv:UnspecifiedMatching MONDO:0019369 complex regional pain syndrome skos:exactMatch icd11.foundation:1834504950 Complex regional pain syndrome semapv:UnspecifiedMatching MONDO:0019369 complex regional pain syndrome skos:exactMatch mesh:D020918 semapv:UnspecifiedMatching MONDO:0019370 vulvovaginal gingival syndrome skos:exactMatch MEDGEN:848586 semapv:UnspecifiedMatching MONDO:0019370 vulvovaginal gingival syndrome skos:exactMatch Orphanet:83453 Vulvovaginal gingival syndrome semapv:UnspecifiedMatching MONDO:0019370 vulvovaginal gingival syndrome skos:exactMatch SCTID:707250009 semapv:UnspecifiedMatching MONDO:0019370 vulvovaginal gingival syndrome skos:exactMatch UMLS:C3873472 semapv:UnspecifiedMatching MONDO:0019370 vulvovaginal gingival syndrome skos:exactMatch icd11.foundation:997964040 Vulvovaginal gingival syndrome semapv:UnspecifiedMatching MONDO:0019371 narcolepsy without cataplexy skos:exactMatch EFO:0005855 semapv:UnspecifiedMatching MONDO:0019371 narcolepsy without cataplexy skos:exactMatch ICD10CM:G47.419 Narcolepsy without cataplexy semapv:UnspecifiedMatching MONDO:0019371 narcolepsy without cataplexy skos:exactMatch MEDGEN:781102 semapv:UnspecifiedMatching MONDO:0019371 narcolepsy without cataplexy skos:exactMatch Orphanet:83465 Narcolepsy type 2 semapv:UnspecifiedMatching MONDO:0019371 narcolepsy without cataplexy skos:exactMatch SCTID:91521000119104 semapv:UnspecifiedMatching MONDO:0019371 narcolepsy without cataplexy skos:exactMatch UMLS:C1456240 semapv:UnspecifiedMatching MONDO:0019371 narcolepsy without cataplexy skos:exactMatch icd11.foundation:1494673323 Narcolepsy, Type 2 semapv:UnspecifiedMatching MONDO:0019372 solitary bone cyst skos:exactMatch ICD10CM:M85.4 Solitary bone cyst semapv:UnspecifiedMatching MONDO:0019372 solitary bone cyst skos:exactMatch MEDGEN:2696 semapv:UnspecifiedMatching MONDO:0019372 solitary bone cyst skos:exactMatch NCIT:C2904 Simple Bone Cyst semapv:UnspecifiedMatching MONDO:0019372 solitary bone cyst skos:exactMatch Orphanet:83468 Solitary bone cyst semapv:UnspecifiedMatching MONDO:0019372 solitary bone cyst skos:exactMatch SCTID:203467005 semapv:UnspecifiedMatching MONDO:0019372 solitary bone cyst skos:exactMatch UMLS:C0005937 semapv:UnspecifiedMatching MONDO:0019372 solitary bone cyst skos:exactMatch icd11.foundation:987501456 Solitary bone cyst semapv:UnspecifiedMatching MONDO:0019372 solitary bone cyst skos:exactMatch mesh:D001845 semapv:UnspecifiedMatching MONDO:0019373 desmoplastic small round cell tumor skos:exactMatch DOID:6785 desmoplastic small round cell tumor semapv:UnspecifiedMatching MONDO:0019373 desmoplastic small round cell tumor skos:exactMatch EFO:1000895 semapv:UnspecifiedMatching MONDO:0019373 desmoplastic small round cell tumor skos:exactMatch MEDGEN:83833 semapv:UnspecifiedMatching MONDO:0019373 desmoplastic small round cell tumor skos:exactMatch NCIT:C8300 Desmoplastic Small Round Cell Tumor semapv:UnspecifiedMatching MONDO:0019373 desmoplastic small round cell tumor skos:exactMatch Orphanet:83469 Desmoplastic small round cell tumor semapv:UnspecifiedMatching MONDO:0019373 desmoplastic small round cell tumor skos:exactMatch UMLS:C0281508 semapv:UnspecifiedMatching MONDO:0019373 desmoplastic small round cell tumor skos:exactMatch mesh:D058405 semapv:UnspecifiedMatching MONDO:0019374 CAMOS syndrome skos:exactMatch MEDGEN:1387501 semapv:UnspecifiedMatching MONDO:0019374 CAMOS syndrome skos:exactMatch Orphanet:83472 CAMOS syndrome semapv:UnspecifiedMatching MONDO:0019374 CAMOS syndrome skos:exactMatch SCTID:726031001 semapv:UnspecifiedMatching MONDO:0019374 CAMOS syndrome skos:exactMatch UMLS:C4511633 semapv:UnspecifiedMatching MONDO:0019375 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome skos:exactMatch MEDGEN:355095 semapv:UnspecifiedMatching MONDO:0019375 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome skos:exactMatch OMIMPS:603387 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome semapv:UnspecifiedMatching MONDO:0019375 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome skos:exactMatch Orphanet:83473 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome semapv:UnspecifiedMatching MONDO:0019375 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome skos:exactMatch SCTID:722036008 semapv:UnspecifiedMatching MONDO:0019375 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome skos:exactMatch UMLS:C1863924 semapv:UnspecifiedMatching MONDO:0019376 West-Nile encephalitis skos:exactMatch DOID:2365 West Nile encephalitis semapv:UnspecifiedMatching MONDO:0019376 West-Nile encephalitis skos:exactMatch EFO:0007545 semapv:UnspecifiedMatching MONDO:0019376 West-Nile encephalitis skos:exactMatch ICD10CM:A92.31 West Nile virus infection with encephalitis semapv:UnspecifiedMatching MONDO:0019376 West-Nile encephalitis skos:exactMatch MEDGEN:155889 semapv:UnspecifiedMatching MONDO:0019376 West-Nile encephalitis skos:exactMatch Orphanet:83476 West-Nile encephalitis semapv:UnspecifiedMatching MONDO:0019376 West-Nile encephalitis skos:exactMatch SCTID:392662004 semapv:UnspecifiedMatching MONDO:0019376 West-Nile encephalitis skos:exactMatch UMLS:C0751583 semapv:UnspecifiedMatching MONDO:0019377 Mycoplasma encephalitis skos:exactMatch MEDGEN:1636101 semapv:UnspecifiedMatching MONDO:0019377 Mycoplasma encephalitis skos:exactMatch Orphanet:83482 Mycoplasma encephalitis semapv:UnspecifiedMatching MONDO:0019377 Mycoplasma encephalitis skos:exactMatch UMLS:C4707240 semapv:UnspecifiedMatching MONDO:0019378 la Crosse encephalitis skos:exactMatch DOID:0050118 La Crosse encephalitis semapv:UnspecifiedMatching MONDO:0019378 la Crosse encephalitis skos:exactMatch MEDGEN:547309 semapv:UnspecifiedMatching MONDO:0019378 la Crosse encephalitis skos:exactMatch Orphanet:83483 La Crosse encephalitis semapv:UnspecifiedMatching MONDO:0019378 la Crosse encephalitis skos:exactMatch SCTID:61094002 semapv:UnspecifiedMatching MONDO:0019378 la Crosse encephalitis skos:exactMatch UMLS:C0276379 semapv:UnspecifiedMatching MONDO:0019378 la Crosse encephalitis skos:exactMatch icd11.foundation:1501615629 La Crosse encephalitis semapv:UnspecifiedMatching MONDO:0019378 la Crosse encephalitis skos:exactMatch mesh:D004670 semapv:UnspecifiedMatching MONDO:0019380 western equine encephalitis skos:exactMatch DOID:10843 Western equine encephalitis semapv:UnspecifiedMatching MONDO:0019380 western equine encephalitis skos:exactMatch EFO:0007546 semapv:UnspecifiedMatching MONDO:0019380 western equine encephalitis skos:exactMatch ICD10CM:A83.1 Western equine encephalitis semapv:UnspecifiedMatching MONDO:0019380 western equine encephalitis skos:exactMatch MEDGEN:57778 semapv:UnspecifiedMatching MONDO:0019380 western equine encephalitis skos:exactMatch NCIT:C85227 Western Equine Encephalomyelitis semapv:UnspecifiedMatching MONDO:0019380 western equine encephalitis skos:exactMatch Orphanet:83593 Western equine encephalitis semapv:UnspecifiedMatching MONDO:0019380 western equine encephalitis skos:exactMatch SCTID:47523006 semapv:UnspecifiedMatching MONDO:0019380 western equine encephalitis skos:exactMatch UMLS:C0153064 semapv:UnspecifiedMatching MONDO:0019380 western equine encephalitis skos:exactMatch icd11.foundation:1543765035 Western equine encephalitis semapv:UnspecifiedMatching MONDO:0019380 western equine encephalitis skos:exactMatch mesh:D020241 semapv:UnspecifiedMatching MONDO:0019383 acute disseminated encephalomyelitis skos:exactMatch DOID:639 acute disseminated encephalomyelitis semapv:UnspecifiedMatching MONDO:0019383 acute disseminated encephalomyelitis skos:exactMatch EFO:0007130 semapv:UnspecifiedMatching MONDO:0019383 acute disseminated encephalomyelitis skos:exactMatch MEDGEN:4033 semapv:UnspecifiedMatching MONDO:0019383 acute disseminated encephalomyelitis skos:exactMatch NCIT:C34578 Acute Disseminated Encephalomyelitis semapv:UnspecifiedMatching MONDO:0019383 acute disseminated encephalomyelitis skos:exactMatch Orphanet:83597 Acute disseminated encephalomyelitis semapv:UnspecifiedMatching MONDO:0019383 acute disseminated encephalomyelitis skos:exactMatch SCTID:83942000 semapv:UnspecifiedMatching MONDO:0019383 acute disseminated encephalomyelitis skos:exactMatch UMLS:C0014059 semapv:UnspecifiedMatching MONDO:0019383 acute disseminated encephalomyelitis skos:exactMatch icd11.foundation:1390433308 Acute disseminated encephalomyelitis semapv:UnspecifiedMatching MONDO:0019383 acute disseminated encephalomyelitis skos:exactMatch mesh:D004673 semapv:UnspecifiedMatching MONDO:0019384 encephalitis lethargica skos:exactMatch DOID:5225 von Economo's disease semapv:UnspecifiedMatching MONDO:0019384 encephalitis lethargica skos:exactMatch MEDGEN:4028 semapv:UnspecifiedMatching MONDO:0019384 encephalitis lethargica skos:exactMatch NCIT:C26761 Encephalitis Lethargica semapv:UnspecifiedMatching MONDO:0019384 encephalitis lethargica skos:exactMatch NCIT:C34576 Epidemic Encephalitis semapv:UnspecifiedMatching MONDO:0019384 encephalitis lethargica skos:exactMatch Orphanet:83600 Encephalitis lethargica semapv:UnspecifiedMatching MONDO:0019384 encephalitis lethargica skos:exactMatch SCTID:186499007 semapv:UnspecifiedMatching MONDO:0019384 encephalitis lethargica skos:exactMatch UMLS:C0014040 semapv:UnspecifiedMatching MONDO:0019384 encephalitis lethargica skos:exactMatch icd11.foundation:1777779617 Encephalitis lethargica semapv:UnspecifiedMatching MONDO:0019385 steroid-responsive encephalopathy associated with autoimmune thyroiditis skos:exactMatch MEDGEN:98280 semapv:UnspecifiedMatching MONDO:0019385 steroid-responsive encephalopathy associated with autoimmune thyroiditis skos:exactMatch Orphanet:83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis semapv:UnspecifiedMatching MONDO:0019385 steroid-responsive encephalopathy associated with autoimmune thyroiditis skos:exactMatch UMLS:C0393639 semapv:UnspecifiedMatching MONDO:0019385 steroid-responsive encephalopathy associated with autoimmune thyroiditis skos:exactMatch mesh:C535841 semapv:UnspecifiedMatching MONDO:0019386 progressive rubella panencephalitis skos:exactMatch MEDGEN:726815 semapv:UnspecifiedMatching MONDO:0019386 progressive rubella panencephalitis skos:exactMatch Orphanet:83616 Rubella panencephalitis semapv:UnspecifiedMatching MONDO:0019386 progressive rubella panencephalitis skos:exactMatch SCTID:10082001 semapv:UnspecifiedMatching MONDO:0019386 progressive rubella panencephalitis skos:exactMatch UMLS:C1305924 semapv:UnspecifiedMatching MONDO:0019387 macrostomia-preauricular tags-external ophthalmoplegia syndrome skos:exactMatch MEDGEN:1391725 semapv:UnspecifiedMatching MONDO:0019387 macrostomia-preauricular tags-external ophthalmoplegia syndrome skos:exactMatch Orphanet:83619 Macrostomia-preauricular tags-external ophthalmoplegia syndrome semapv:UnspecifiedMatching MONDO:0019387 macrostomia-preauricular tags-external ophthalmoplegia syndrome skos:exactMatch UMLS:C4509840 semapv:UnspecifiedMatching MONDO:0019388 pelvis syndrome skos:exactMatch MEDGEN:1374037 semapv:UnspecifiedMatching MONDO:0019388 pelvis syndrome skos:exactMatch Orphanet:83628 LUMBAR syndrome semapv:UnspecifiedMatching MONDO:0019388 pelvis syndrome skos:exactMatch SCTID:725138002 semapv:UnspecifiedMatching MONDO:0019388 pelvis syndrome skos:exactMatch UMLS:C4510867 semapv:UnspecifiedMatching MONDO:0019388 pelvis syndrome skos:exactMatch icd11.foundation:1311821224 PELVIS syndrome semapv:UnspecifiedMatching MONDO:0019389 obsolete X-linked recessive intellectual disability-macrocephaly-ciliary dysfunction syndrome skos:exactMatch Orphanet:83648 OBSOLETE: X-linked recessive intellectual disability-macrocephaly-ciliary dysfunction syndrome semapv:UnspecifiedMatching MONDO:0019390 Susac syndrome skos:exactMatch EFO:1001856 semapv:UnspecifiedMatching MONDO:0019390 Susac syndrome skos:exactMatch MEDGEN:439270 semapv:UnspecifiedMatching MONDO:0019390 Susac syndrome skos:exactMatch NCIT:C116363 Susac Syndrome semapv:UnspecifiedMatching MONDO:0019390 Susac syndrome skos:exactMatch Orphanet:838 Susac syndrome semapv:UnspecifiedMatching MONDO:0019390 Susac syndrome skos:exactMatch SCTID:702575003 semapv:UnspecifiedMatching MONDO:0019390 Susac syndrome skos:exactMatch UMLS:C2717757 semapv:UnspecifiedMatching MONDO:0019390 Susac syndrome skos:exactMatch icd11.foundation:1292480458 Susac syndrome semapv:UnspecifiedMatching MONDO:0019390 Susac syndrome skos:exactMatch mesh:D055955 semapv:UnspecifiedMatching MONDO:0019391 Fanconi anemia skos:exactMatch DOID:13636 Fanconi anemia semapv:UnspecifiedMatching MONDO:0019391 Fanconi anemia skos:exactMatch MEDGEN:41967 semapv:UnspecifiedMatching MONDO:0019391 Fanconi anemia skos:exactMatch NCIT:C62505 Fanconi Anemia semapv:UnspecifiedMatching MONDO:0019391 Fanconi anemia skos:exactMatch OMIMPS:227650 Fanconi anemia semapv:UnspecifiedMatching MONDO:0019391 Fanconi anemia skos:exactMatch Orphanet:84 Fanconi anemia semapv:UnspecifiedMatching MONDO:0019391 Fanconi anemia skos:exactMatch SCTID:30575002 semapv:UnspecifiedMatching MONDO:0019391 Fanconi anemia skos:exactMatch UMLS:C0015625 semapv:UnspecifiedMatching MONDO:0019391 Fanconi anemia skos:exactMatch mesh:D005199 semapv:UnspecifiedMatching MONDO:0019392 syringocystadenoma papilliferum skos:exactMatch DOID:5445 syringocystadenoma papilliferum semapv:UnspecifiedMatching MONDO:0019392 syringocystadenoma papilliferum skos:exactMatch EFO:1000558 semapv:UnspecifiedMatching MONDO:0019392 syringocystadenoma papilliferum skos:exactMatch MEDGEN:98362 semapv:UnspecifiedMatching MONDO:0019392 syringocystadenoma papilliferum skos:exactMatch NCIT:C4172 Syringocystadenoma Papilliferum semapv:UnspecifiedMatching MONDO:0019392 syringocystadenoma papilliferum skos:exactMatch Orphanet:840 Syringocystadenoma papilliferum semapv:UnspecifiedMatching MONDO:0019392 syringocystadenoma papilliferum skos:exactMatch SCTID:239121009 semapv:UnspecifiedMatching MONDO:0019392 syringocystadenoma papilliferum skos:exactMatch UMLS:C0406803 semapv:UnspecifiedMatching MONDO:0019392 syringocystadenoma papilliferum skos:exactMatch icd11.foundation:530424877 Syringocystadenoma papilliferum semapv:UnspecifiedMatching MONDO:0019393 idiopathic malabsorption due to bile acid synthesis defects skos:exactMatch MEDGEN:900722 semapv:UnspecifiedMatching MONDO:0019393 idiopathic malabsorption due to bile acid synthesis defects skos:exactMatch Orphanet:84065 Idiopathic malabsorption due to bile acid synthesis defects semapv:UnspecifiedMatching MONDO:0019393 idiopathic malabsorption due to bile acid synthesis defects skos:exactMatch UMLS:C4274509 semapv:UnspecifiedMatching MONDO:0019394 Senior-Boichis syndrome skos:exactMatch MEDGEN:902988 semapv:UnspecifiedMatching MONDO:0019394 Senior-Boichis syndrome skos:exactMatch Orphanet:84081 Senior-Boichis syndrome semapv:UnspecifiedMatching MONDO:0019394 Senior-Boichis syndrome skos:exactMatch SCTID:717187000 semapv:UnspecifiedMatching MONDO:0019394 Senior-Boichis syndrome skos:exactMatch UMLS:C4274018 semapv:UnspecifiedMatching MONDO:0019395 Hinman syndrome skos:exactMatch MEDGEN:744421 semapv:UnspecifiedMatching MONDO:0019395 Hinman syndrome skos:exactMatch Orphanet:84085 Hinman syndrome semapv:UnspecifiedMatching MONDO:0019395 Hinman syndrome skos:exactMatch SCTID:429233001 semapv:UnspecifiedMatching MONDO:0019395 Hinman syndrome skos:exactMatch UMLS:C1997362 semapv:UnspecifiedMatching MONDO:0019396 collagen type III glomerulopathy skos:exactMatch MEDGEN:836996 semapv:UnspecifiedMatching MONDO:0019396 collagen type III glomerulopathy skos:exactMatch Orphanet:84087 Collagen type III glomerulopathy semapv:UnspecifiedMatching MONDO:0019396 collagen type III glomerulopathy skos:exactMatch SCTID:708127008 semapv:UnspecifiedMatching MONDO:0019396 collagen type III glomerulopathy skos:exactMatch UMLS:C3872695 semapv:UnspecifiedMatching MONDO:0019398 desmin-related myopathy with Mallory body-like inclusions skos:exactMatch MEDGEN:898925 semapv:UnspecifiedMatching MONDO:0019398 desmin-related myopathy with Mallory body-like inclusions skos:exactMatch Orphanet:84132 Desmin-related myopathy with Mallory body-like inclusions semapv:UnspecifiedMatching MONDO:0019398 desmin-related myopathy with Mallory body-like inclusions skos:exactMatch UMLS:C4275073 semapv:UnspecifiedMatching MONDO:0019398 desmin-related myopathy with Mallory body-like inclusions skos:exactMatch icd11.foundation:998522839 Desmin-related myopathy with Mallory body-like inclusions semapv:UnspecifiedMatching MONDO:0019399 Isaac syndrome skos:exactMatch MEDGEN:116151 semapv:UnspecifiedMatching MONDO:0019399 Isaac syndrome skos:exactMatch Orphanet:84142 Isaacs syndrome semapv:UnspecifiedMatching MONDO:0019399 Isaac syndrome skos:exactMatch SCTID:305719002 semapv:UnspecifiedMatching MONDO:0019399 Isaac syndrome skos:exactMatch UMLS:C0242287 semapv:UnspecifiedMatching MONDO:0019399 Isaac syndrome skos:exactMatch icd11.foundation:646523932 Neuromyotonia semapv:UnspecifiedMatching MONDO:0019401 sporadic idiopathic steroid-resistant nephrotic syndrome skos:exactMatch MEDGEN:897207 semapv:UnspecifiedMatching MONDO:0019401 sporadic idiopathic steroid-resistant nephrotic syndrome skos:exactMatch SCTID:717191005 semapv:UnspecifiedMatching MONDO:0019401 sporadic idiopathic steroid-resistant nephrotic syndrome skos:exactMatch UMLS:C4274017 semapv:UnspecifiedMatching MONDO:0019402 beta thalassemia skos:exactMatch DOID:12241 beta thalassemia semapv:UnspecifiedMatching MONDO:0019402 beta thalassemia skos:exactMatch ICD10CM:D56.1 Beta thalassemia semapv:UnspecifiedMatching MONDO:0019402 beta thalassemia skos:exactMatch MEDGEN:2611 semapv:UnspecifiedMatching MONDO:0019402 beta thalassemia skos:exactMatch NCIT:C34375 Beta Thalassemia semapv:UnspecifiedMatching MONDO:0019402 beta thalassemia skos:exactMatch Orphanet:848 Beta-thalassemia semapv:UnspecifiedMatching MONDO:0019402 beta thalassemia skos:exactMatch SCTID:65959000 semapv:UnspecifiedMatching MONDO:0019402 beta thalassemia skos:exactMatch UMLS:C0005283 semapv:UnspecifiedMatching MONDO:0019402 beta thalassemia skos:exactMatch icd11.foundation:2063292324 Beta thalassaemia semapv:UnspecifiedMatching MONDO:0019402 beta thalassemia skos:exactMatch mesh:D017086 semapv:UnspecifiedMatching MONDO:0019403 congenital dyserythropoietic anemia skos:exactMatch DOID:1338 congenital dyserythropoietic anemia semapv:UnspecifiedMatching MONDO:0019403 congenital dyserythropoietic anemia skos:exactMatch ICD10CM:D64.4 Congenital dyserythropoietic anemia semapv:UnspecifiedMatching MONDO:0019403 congenital dyserythropoietic anemia skos:exactMatch MEDGEN:8064 semapv:UnspecifiedMatching MONDO:0019403 congenital dyserythropoietic anemia skos:exactMatch NCIT:C84646 Congenital Dyserythropoietic Anemia semapv:UnspecifiedMatching MONDO:0019403 congenital dyserythropoietic anemia skos:exactMatch OMIMPS:224120 Anemia, congenital dyserythropoietic semapv:UnspecifiedMatching MONDO:0019403 congenital dyserythropoietic anemia skos:exactMatch Orphanet:85 Congenital dyserythropoietic anemia semapv:UnspecifiedMatching MONDO:0019403 congenital dyserythropoietic anemia skos:exactMatch SCTID:52951008 semapv:UnspecifiedMatching MONDO:0019403 congenital dyserythropoietic anemia skos:exactMatch UMLS:C0002876 semapv:UnspecifiedMatching MONDO:0019403 congenital dyserythropoietic anemia skos:exactMatch icd11.foundation:899830967 Congenital dyserythropoietic anaemia semapv:UnspecifiedMatching MONDO:0019403 congenital dyserythropoietic anemia skos:exactMatch mesh:D000742 semapv:UnspecifiedMatching MONDO:0019404 perineurioma skos:exactMatch DOID:4697 perineurioma semapv:UnspecifiedMatching MONDO:0019404 perineurioma skos:exactMatch MEDGEN:199712 semapv:UnspecifiedMatching MONDO:0019404 perineurioma skos:exactMatch NCIT:C4973 Perineurioma semapv:UnspecifiedMatching MONDO:0019404 perineurioma skos:exactMatch Orphanet:85102 Perineurioma semapv:UnspecifiedMatching MONDO:0019404 perineurioma skos:exactMatch SCTID:404036006 semapv:UnspecifiedMatching MONDO:0019404 perineurioma skos:exactMatch UMLS:C0751691 semapv:UnspecifiedMatching MONDO:0019404 perineurioma skos:exactMatch icd11.foundation:456459236 Perineurioma semapv:UnspecifiedMatching MONDO:0019405 facial onset sensory and motor neuronopathy skos:exactMatch MEDGEN:1374397 semapv:UnspecifiedMatching MONDO:0019405 facial onset sensory and motor neuronopathy skos:exactMatch Orphanet:85162 Facial onset sensory and motor neuronopathy semapv:UnspecifiedMatching MONDO:0019405 facial onset sensory and motor neuronopathy skos:exactMatch SCTID:723306004 semapv:UnspecifiedMatching MONDO:0019405 facial onset sensory and motor neuronopathy skos:exactMatch UMLS:C4509818 semapv:UnspecifiedMatching MONDO:0019406 craniofacial conodysplasia skos:exactMatch MEDGEN:929531 semapv:UnspecifiedMatching MONDO:0019406 craniofacial conodysplasia skos:exactMatch Orphanet:85168 Craniofacial conodysplasia semapv:UnspecifiedMatching MONDO:0019406 craniofacial conodysplasia skos:exactMatch UMLS:C4303862 semapv:UnspecifiedMatching MONDO:0019407 microcephalic osteodysplastic dysplasia, Saul-Wilson type skos:exactMatch DOID:0111673 Saul-Wilson syndrome semapv:UnspecifiedMatching MONDO:0019407 microcephalic osteodysplastic dysplasia, Saul-Wilson type skos:exactMatch MEDGEN:1375647 semapv:UnspecifiedMatching MONDO:0019407 microcephalic osteodysplastic dysplasia, Saul-Wilson type skos:exactMatch OMIM:618150 saul-wilson syndrome semapv:UnspecifiedMatching MONDO:0019407 microcephalic osteodysplastic dysplasia, Saul-Wilson type skos:exactMatch Orphanet:85172 Microcephalic osteodysplastic dysplasia, Saul-Wilson type semapv:UnspecifiedMatching MONDO:0019407 microcephalic osteodysplastic dysplasia, Saul-Wilson type skos:exactMatch UMLS:C4509877 semapv:UnspecifiedMatching MONDO:0019407 microcephalic osteodysplastic dysplasia, Saul-Wilson type skos:exactMatch icd11.foundation:738688839 Microcephalic osteodysplastic dysplasia, Saul-Wilson type semapv:UnspecifiedMatching MONDO:0019408 Astley-Kendall dysplasia skos:exactMatch MEDGEN:224886 semapv:UnspecifiedMatching MONDO:0019408 Astley-Kendall dysplasia skos:exactMatch Orphanet:85175 Astley-Kendall dysplasia semapv:UnspecifiedMatching MONDO:0019408 Astley-Kendall dysplasia skos:exactMatch SCTID:389263004 semapv:UnspecifiedMatching MONDO:0019408 Astley-Kendall dysplasia skos:exactMatch UMLS:C1300228 semapv:UnspecifiedMatching MONDO:0019408 Astley-Kendall dysplasia skos:exactMatch icd11.foundation:1367227076 Astley-Kendall dysplasia semapv:UnspecifiedMatching MONDO:0019408 Astley-Kendall dysplasia skos:exactMatch mesh:C535392 semapv:UnspecifiedMatching MONDO:0019409 idiopathic juvenile osteoporosis skos:exactMatch DOID:12559 idiopathic juvenile osteoporosis semapv:UnspecifiedMatching MONDO:0019409 idiopathic juvenile osteoporosis skos:exactMatch MEDGEN:120494 semapv:UnspecifiedMatching MONDO:0019409 idiopathic juvenile osteoporosis skos:exactMatch NCIT:C119996 Pediatric Osteoporosis semapv:UnspecifiedMatching MONDO:0019409 idiopathic juvenile osteoporosis skos:exactMatch OMIM:259750 osteoporosis, juvenile semapv:UnspecifiedMatching MONDO:0019409 idiopathic juvenile osteoporosis skos:exactMatch Orphanet:85193 Idiopathic juvenile osteoporosis semapv:UnspecifiedMatching MONDO:0019409 idiopathic juvenile osteoporosis skos:exactMatch SCTID:3345002 semapv:UnspecifiedMatching MONDO:0019409 idiopathic juvenile osteoporosis skos:exactMatch UMLS:C0264080 semapv:UnspecifiedMatching MONDO:0019409 idiopathic juvenile osteoporosis skos:exactMatch icd11.foundation:183642011 Idiopathic juvenile osteoporosis semapv:UnspecifiedMatching MONDO:0019409 idiopathic juvenile osteoporosis skos:exactMatch mesh:C537700 semapv:UnspecifiedMatching MONDO:0019410 obsolete nodulosis-arthropathy-osteolysis syndrome skos:exactMatch Orphanet:85196 Nodulosis-arthropathy-osteolysis syndrome semapv:UnspecifiedMatching MONDO:0019411 genochondromatosis type 1 skos:exactMatch MEDGEN:1761731 semapv:UnspecifiedMatching MONDO:0019411 genochondromatosis type 1 skos:exactMatch Orphanet:85197 Genochondromatosis type 1 semapv:UnspecifiedMatching MONDO:0019411 genochondromatosis type 1 skos:exactMatch UMLS:C5438970 semapv:UnspecifiedMatching MONDO:0019411 genochondromatosis type 1 skos:exactMatch icd11.foundation:521879469 Genochondromatosis type 1 semapv:UnspecifiedMatching MONDO:0019412 dysspondyloenchondromatosis skos:exactMatch MEDGEN:928217 semapv:UnspecifiedMatching MONDO:0019412 dysspondyloenchondromatosis skos:exactMatch Orphanet:85198 Dysspondyloenchondromatosis semapv:UnspecifiedMatching MONDO:0019412 dysspondyloenchondromatosis skos:exactMatch SCTID:722434004 semapv:UnspecifiedMatching MONDO:0019412 dysspondyloenchondromatosis skos:exactMatch UMLS:C4302548 semapv:UnspecifiedMatching MONDO:0019412 dysspondyloenchondromatosis skos:exactMatch icd11.foundation:942697844 Dysspondyloenchondromatosis semapv:UnspecifiedMatching MONDO:0019413 ischio-vertebral syndrome skos:exactMatch MEDGEN:903166 semapv:UnspecifiedMatching MONDO:0019413 ischio-vertebral syndrome skos:exactMatch SCTID:715654001 semapv:UnspecifiedMatching MONDO:0019413 ischio-vertebral syndrome skos:exactMatch UMLS:C4274732 semapv:UnspecifiedMatching MONDO:0019413 ischio-vertebral syndrome skos:exactMatch icd11.foundation:185911418 Ischio-vertebral syndrome semapv:UnspecifiedMatching MONDO:0019414 BRESEK syndrome skos:exactMatch MEDGEN:502868 semapv:UnspecifiedMatching MONDO:0019414 BRESEK syndrome skos:exactMatch Orphanet:85284 BRESEK syndrome semapv:UnspecifiedMatching MONDO:0019414 BRESEK syndrome skos:exactMatch SCTID:717945001 semapv:UnspecifiedMatching MONDO:0019414 BRESEK syndrome skos:exactMatch UMLS:C3502469 semapv:UnspecifiedMatching MONDO:0019414 BRESEK syndrome skos:exactMatch mesh:C564519 semapv:UnspecifiedMatching MONDO:0019415 fetal and neonatal alloimmune thrombocytopenia skos:exactMatch MEDGEN:1720701 semapv:UnspecifiedMatching MONDO:0019415 fetal and neonatal alloimmune thrombocytopenia skos:exactMatch OMIMPS:621264 Fetomaternal alloimmune thrombocytopenia semapv:UnspecifiedMatching MONDO:0019415 fetal and neonatal alloimmune thrombocytopenia skos:exactMatch Orphanet:853 Fetal and neonatal alloimmune thrombocytopenia semapv:UnspecifiedMatching MONDO:0019415 fetal and neonatal alloimmune thrombocytopenia skos:exactMatch SCTID:240305000 semapv:UnspecifiedMatching MONDO:0019415 fetal and neonatal alloimmune thrombocytopenia skos:exactMatch UMLS:C3854603 semapv:UnspecifiedMatching MONDO:0019416 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome skos:exactMatch MEDGEN:930588 semapv:UnspecifiedMatching MONDO:0019416 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome skos:exactMatch Orphanet:85317 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome semapv:UnspecifiedMatching MONDO:0019416 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome skos:exactMatch UMLS:C4304919 semapv:UnspecifiedMatching MONDO:0019418 X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome skos:exactMatch MEDGEN:930586 semapv:UnspecifiedMatching MONDO:0019418 X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome skos:exactMatch Orphanet:85319 X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome semapv:UnspecifiedMatching MONDO:0019418 X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome skos:exactMatch UMLS:C4304917 semapv:UnspecifiedMatching MONDO:0019419 X-linked intellectual disability-macrocephaly-macroorchidism syndrome skos:exactMatch MEDGEN:930075 semapv:UnspecifiedMatching MONDO:0019419 X-linked intellectual disability-macrocephaly-macroorchidism syndrome skos:exactMatch Orphanet:85320 X-linked intellectual disability-macrocephaly-macroorchidism syndrome semapv:UnspecifiedMatching MONDO:0019419 X-linked intellectual disability-macrocephaly-macroorchidism syndrome skos:exactMatch SCTID:719825000 semapv:UnspecifiedMatching MONDO:0019419 X-linked intellectual disability-macrocephaly-macroorchidism syndrome skos:exactMatch UMLS:C4304406 semapv:UnspecifiedMatching MONDO:0019420 X-linked intellectual disability, Pai type skos:exactMatch MEDGEN:930695 semapv:UnspecifiedMatching MONDO:0019420 X-linked intellectual disability, Pai type skos:exactMatch Orphanet:85322 X-linked intellectual disability, Pai type semapv:UnspecifiedMatching MONDO:0019420 X-linked intellectual disability, Pai type skos:exactMatch SCTID:719011002 semapv:UnspecifiedMatching MONDO:0019420 X-linked intellectual disability, Pai type skos:exactMatch UMLS:C4305026 semapv:UnspecifiedMatching MONDO:0019421 X-linked intellectual disability, Seemanova type skos:exactMatch MEDGEN:930757 semapv:UnspecifiedMatching MONDO:0019421 X-linked intellectual disability, Seemanova type skos:exactMatch Orphanet:85323 X-linked intellectual disability, Seemanova type semapv:UnspecifiedMatching MONDO:0019421 X-linked intellectual disability, Seemanova type skos:exactMatch SCTID:718897009 semapv:UnspecifiedMatching MONDO:0019421 X-linked intellectual disability, Seemanova type skos:exactMatch UMLS:C4305088 semapv:UnspecifiedMatching MONDO:0019422 X-linked intellectual disability, Stevenson type skos:exactMatch MEDGEN:930746 semapv:UnspecifiedMatching MONDO:0019422 X-linked intellectual disability, Stevenson type skos:exactMatch Orphanet:85325 X-linked intellectual disability, Stevenson type semapv:UnspecifiedMatching MONDO:0019422 X-linked intellectual disability, Stevenson type skos:exactMatch SCTID:718909001 semapv:UnspecifiedMatching MONDO:0019422 X-linked intellectual disability, Stevenson type skos:exactMatch UMLS:C4305077 semapv:UnspecifiedMatching MONDO:0019423 X-linked intellectual disability, Stoll type skos:exactMatch MEDGEN:930744 semapv:UnspecifiedMatching MONDO:0019423 X-linked intellectual disability, Stoll type skos:exactMatch Orphanet:85326 X-linked intellectual disability, Stoll type semapv:UnspecifiedMatching MONDO:0019423 X-linked intellectual disability, Stoll type skos:exactMatch SCTID:718911005 semapv:UnspecifiedMatching MONDO:0019423 X-linked intellectual disability, Stoll type skos:exactMatch UMLS:C4305075 semapv:UnspecifiedMatching MONDO:0019424 X-linked intellectual disability-acromegaly-hyperactivity syndrome skos:exactMatch MEDGEN:930076 semapv:UnspecifiedMatching MONDO:0019424 X-linked intellectual disability-acromegaly-hyperactivity syndrome skos:exactMatch Orphanet:85327 X-linked intellectual disability-acromegaly-hyperactivity syndrome semapv:UnspecifiedMatching MONDO:0019424 X-linked intellectual disability-acromegaly-hyperactivity syndrome skos:exactMatch UMLS:C4304407 semapv:UnspecifiedMatching MONDO:0019426 X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome skos:exactMatch MEDGEN:930605 semapv:UnspecifiedMatching MONDO:0019426 X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome skos:exactMatch UMLS:C4304936 semapv:UnspecifiedMatching MONDO:0019427 X-linked neurodegenerative syndrome, Bertini type skos:exactMatch MEDGEN:930802 semapv:UnspecifiedMatching MONDO:0019427 X-linked neurodegenerative syndrome, Bertini type skos:exactMatch Orphanet:85334 X-linked neurodegenerative syndrome, Bertini type semapv:UnspecifiedMatching MONDO:0019427 X-linked neurodegenerative syndrome, Bertini type skos:exactMatch SCTID:718849008 semapv:UnspecifiedMatching MONDO:0019427 X-linked neurodegenerative syndrome, Bertini type skos:exactMatch UMLS:C4305133 semapv:UnspecifiedMatching MONDO:0019428 fried syndrome skos:exactMatch MEDGEN:930803 semapv:UnspecifiedMatching MONDO:0019428 fried syndrome skos:exactMatch Orphanet:85335 Fried syndrome semapv:UnspecifiedMatching MONDO:0019428 fried syndrome skos:exactMatch SCTID:718848000 semapv:UnspecifiedMatching MONDO:0019428 fried syndrome skos:exactMatch UMLS:C4305134 semapv:UnspecifiedMatching MONDO:0019429 X-linked neurodegenerative syndrome, Hamel type skos:exactMatch MEDGEN:930804 semapv:UnspecifiedMatching MONDO:0019429 X-linked neurodegenerative syndrome, Hamel type skos:exactMatch Orphanet:85336 X-linked neurodegenerative syndrome, Hamel type semapv:UnspecifiedMatching MONDO:0019429 X-linked neurodegenerative syndrome, Hamel type skos:exactMatch SCTID:718847005 semapv:UnspecifiedMatching MONDO:0019429 X-linked neurodegenerative syndrome, Hamel type skos:exactMatch UMLS:C4305135 semapv:UnspecifiedMatching MONDO:0019430 X-linked intellectual disability-ataxia-apraxia syndrome skos:exactMatch MEDGEN:930808 semapv:UnspecifiedMatching MONDO:0019430 X-linked intellectual disability-ataxia-apraxia syndrome skos:exactMatch Orphanet:85338 X-linked intellectual disability-ataxia-apraxia syndrome semapv:UnspecifiedMatching MONDO:0019430 X-linked intellectual disability-ataxia-apraxia syndrome skos:exactMatch UMLS:C4305139 semapv:UnspecifiedMatching MONDO:0019431 primitive portal vein thrombosis skos:exactMatch MEDGEN:1876652 semapv:UnspecifiedMatching MONDO:0019431 primitive portal vein thrombosis skos:exactMatch Orphanet:854 Non-malignant and non-cirrhotic portal vein thrombosis semapv:UnspecifiedMatching MONDO:0019431 primitive portal vein thrombosis skos:exactMatch UMLS:C6012228 semapv:UnspecifiedMatching MONDO:0019432 rheumatoid factor-negative juvenile idiopathic arthritis skos:exactMatch EFO:1002020 semapv:UnspecifiedMatching MONDO:0019432 rheumatoid factor-negative juvenile idiopathic arthritis skos:exactMatch MEDGEN:855549 semapv:UnspecifiedMatching MONDO:0019432 rheumatoid factor-negative juvenile idiopathic arthritis skos:exactMatch Orphanet:85408 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis semapv:UnspecifiedMatching MONDO:0019432 rheumatoid factor-negative juvenile idiopathic arthritis skos:exactMatch UMLS:C3890205 semapv:UnspecifiedMatching MONDO:0019433 oligoarticular juvenile idiopathic arthritis skos:exactMatch EFO:1002019 semapv:UnspecifiedMatching MONDO:0019433 oligoarticular juvenile idiopathic arthritis skos:exactMatch MEDGEN:443993 semapv:UnspecifiedMatching MONDO:0019433 oligoarticular juvenile idiopathic arthritis skos:exactMatch NCIT:C119032 Oligoarticular Juvenile Idiopathic Arthritis semapv:UnspecifiedMatching MONDO:0019433 oligoarticular juvenile idiopathic arthritis skos:exactMatch Orphanet:85410 Oligoarticular juvenile idiopathic arthritis semapv:UnspecifiedMatching MONDO:0019433 oligoarticular juvenile idiopathic arthritis skos:exactMatch UMLS:C2931171 semapv:UnspecifiedMatching MONDO:0019433 oligoarticular juvenile idiopathic arthritis skos:exactMatch icd11.foundation:1990556904 Juvenile idiopathic oligoarthritis semapv:UnspecifiedMatching MONDO:0019433 oligoarticular juvenile idiopathic arthritis skos:exactMatch mesh:C536312 semapv:UnspecifiedMatching MONDO:0019434 systemic-onset juvenile idiopathic arthritis skos:exactMatch EFO:1001999 semapv:UnspecifiedMatching MONDO:0019434 systemic-onset juvenile idiopathic arthritis skos:exactMatch MEDGEN:346934 semapv:UnspecifiedMatching MONDO:0019434 systemic-onset juvenile idiopathic arthritis skos:exactMatch NCIT:C119031 Systemic Juvenile Idiopathic Arthritis semapv:UnspecifiedMatching MONDO:0019434 systemic-onset juvenile idiopathic arthritis skos:exactMatch Orphanet:85414 Systemic-onset juvenile idiopathic arthritis semapv:UnspecifiedMatching MONDO:0019434 systemic-onset juvenile idiopathic arthritis skos:exactMatch SCTID:201796004 semapv:UnspecifiedMatching MONDO:0019434 systemic-onset juvenile idiopathic arthritis skos:exactMatch UMLS:C1858558 semapv:UnspecifiedMatching MONDO:0019434 systemic-onset juvenile idiopathic arthritis skos:exactMatch icd11.foundation:504387587 Juvenile systemic arthritis semapv:UnspecifiedMatching MONDO:0019434 systemic-onset juvenile idiopathic arthritis skos:exactMatch mesh:C565798 semapv:UnspecifiedMatching MONDO:0019435 rheumatoid factor-positive polyarticular juvenile idiopathic arthritis skos:exactMatch EFO:0009731 semapv:UnspecifiedMatching MONDO:0019435 rheumatoid factor-positive polyarticular juvenile idiopathic arthritis skos:exactMatch MEDGEN:855737 semapv:UnspecifiedMatching MONDO:0019435 rheumatoid factor-positive polyarticular juvenile idiopathic arthritis skos:exactMatch NCIT:C119034 Polyarticular Juvenile Idiopathic Arthritis, Rheumatoid Factor Positive semapv:UnspecifiedMatching MONDO:0019435 rheumatoid factor-positive polyarticular juvenile idiopathic arthritis skos:exactMatch Orphanet:85435 Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis semapv:UnspecifiedMatching MONDO:0019435 rheumatoid factor-positive polyarticular juvenile idiopathic arthritis skos:exactMatch UMLS:C3890733 semapv:UnspecifiedMatching MONDO:0019436 psoriasis-related juvenile idiopathic arthritis skos:exactMatch EFO:0009733 semapv:UnspecifiedMatching MONDO:0019436 psoriasis-related juvenile idiopathic arthritis skos:exactMatch MEDGEN:811463 semapv:UnspecifiedMatching MONDO:0019436 psoriasis-related juvenile idiopathic arthritis skos:exactMatch NCIT:C114361 Juvenile Psoriatic Arthritis semapv:UnspecifiedMatching MONDO:0019436 psoriasis-related juvenile idiopathic arthritis skos:exactMatch Orphanet:85436 Psoriasis-related juvenile idiopathic arthritis semapv:UnspecifiedMatching MONDO:0019436 psoriasis-related juvenile idiopathic arthritis skos:exactMatch SCTID:239802003 semapv:UnspecifiedMatching MONDO:0019436 psoriasis-related juvenile idiopathic arthritis skos:exactMatch UMLS:C3714758 semapv:UnspecifiedMatching MONDO:0019436 psoriasis-related juvenile idiopathic arthritis skos:exactMatch icd11.foundation:1473955563 Juvenile psoriatic arthritis semapv:UnspecifiedMatching MONDO:0019437 enthesitis-related juvenile idiopathic arthritis skos:exactMatch EFO:0009732 semapv:UnspecifiedMatching MONDO:0019437 enthesitis-related juvenile idiopathic arthritis skos:exactMatch MEDGEN:854059 semapv:UnspecifiedMatching MONDO:0019437 enthesitis-related juvenile idiopathic arthritis skos:exactMatch NCIT:C119024 Enthesitis-Related Arthritis semapv:UnspecifiedMatching MONDO:0019437 enthesitis-related juvenile idiopathic arthritis skos:exactMatch Orphanet:85438 Enthesitis-related juvenile idiopathic arthritis semapv:UnspecifiedMatching MONDO:0019437 enthesitis-related juvenile idiopathic arthritis skos:exactMatch SCTID:410801005 semapv:UnspecifiedMatching MONDO:0019437 enthesitis-related juvenile idiopathic arthritis skos:exactMatch UMLS:C3495919 semapv:UnspecifiedMatching MONDO:0019437 enthesitis-related juvenile idiopathic arthritis skos:exactMatch icd11.foundation:1128255226 Juvenile enthesitis related arthritis semapv:UnspecifiedMatching MONDO:0019438 AL amyloidosis skos:exactMatch DOID:0080933 immunoglobulin light chain amyloidosis semapv:UnspecifiedMatching MONDO:0019438 AL amyloidosis skos:exactMatch MEDGEN:75674 semapv:UnspecifiedMatching MONDO:0019438 AL amyloidosis skos:exactMatch NCIT:C158963 AL Amyloidosis semapv:UnspecifiedMatching MONDO:0019438 AL amyloidosis skos:exactMatch Orphanet:85443 AL amyloidosis semapv:UnspecifiedMatching MONDO:0019438 AL amyloidosis skos:exactMatch UMLS:C0268381 semapv:UnspecifiedMatching MONDO:0019438 AL amyloidosis skos:exactMatch icd11.foundation:1061366491 AL amyloidosis semapv:UnspecifiedMatching MONDO:0019438 AL amyloidosis skos:exactMatch icd11.foundation:113043090 Primary localised cutaneous amyloidosis semapv:UnspecifiedMatching MONDO:0019438 AL amyloidosis skos:exactMatch mesh:C531616 semapv:UnspecifiedMatching MONDO:0019439 AA amyloidosis skos:exactMatch DOID:0080936 serum amyloid A amyloidosis semapv:UnspecifiedMatching MONDO:0019439 AA amyloidosis skos:exactMatch MEDGEN:782429 semapv:UnspecifiedMatching MONDO:0019439 AA amyloidosis skos:exactMatch NCIT:C3818 Secondary Amyloidosis semapv:UnspecifiedMatching MONDO:0019439 AA amyloidosis skos:exactMatch Orphanet:85445 AA amyloidosis semapv:UnspecifiedMatching MONDO:0019439 AA amyloidosis skos:exactMatch SCTID:281034005 semapv:UnspecifiedMatching MONDO:0019439 AA amyloidosis skos:exactMatch UMLS:C3536715 semapv:UnspecifiedMatching MONDO:0019439 AA amyloidosis skos:exactMatch icd11.foundation:570181034 AA amyloidosis semapv:UnspecifiedMatching MONDO:0019440 wild type ABeta2M amyloidosis skos:exactMatch MEDGEN:78673 semapv:UnspecifiedMatching MONDO:0019440 wild type ABeta2M amyloidosis skos:exactMatch Orphanet:85446 Wild type ABeta2M amyloidosis semapv:UnspecifiedMatching MONDO:0019440 wild type ABeta2M amyloidosis skos:exactMatch SCTID:32599008 semapv:UnspecifiedMatching MONDO:0019440 wild type ABeta2M amyloidosis skos:exactMatch UMLS:C0268405 semapv:UnspecifiedMatching MONDO:0019440 wild type ABeta2M amyloidosis skos:exactMatch icd11.foundation:499046814 Wild type ABeta2M amyloidosis semapv:UnspecifiedMatching MONDO:0019441 ATTRV122I amyloidosis skos:exactMatch MEDGEN:907865 semapv:UnspecifiedMatching MONDO:0019441 ATTRV122I amyloidosis skos:exactMatch Orphanet:85451 ATTRV122I amyloidosis semapv:UnspecifiedMatching MONDO:0019441 ATTRV122I amyloidosis skos:exactMatch SCTID:715655000 semapv:UnspecifiedMatching MONDO:0019441 ATTRV122I amyloidosis skos:exactMatch UMLS:C4275067 semapv:UnspecifiedMatching MONDO:0019441 ATTRV122I amyloidosis skos:exactMatch icd11.foundation:1449168185 ATTRV122I amyloidosis semapv:UnspecifiedMatching MONDO:0019443 dextro-looped transposition of the great arteries skos:exactMatch DOID:0060770 dextro-looped transposition of the great arteries semapv:UnspecifiedMatching MONDO:0019443 dextro-looped transposition of the great arteries skos:exactMatch MEDGEN:758887 semapv:UnspecifiedMatching MONDO:0019443 dextro-looped transposition of the great arteries skos:exactMatch Orphanet:860 Congenitally uncorrected transposition of the great arteries semapv:UnspecifiedMatching MONDO:0019443 dextro-looped transposition of the great arteries skos:exactMatch UMLS:C3531771 semapv:UnspecifiedMatching MONDO:0019444 trichinellosis skos:exactMatch DOID:9784 trichinosis semapv:UnspecifiedMatching MONDO:0019444 trichinellosis skos:exactMatch ICD10CM:B75 Trichinellosis semapv:UnspecifiedMatching MONDO:0019444 trichinellosis skos:exactMatch ICD10WHO:B75 Trichinellosis semapv:UnspecifiedMatching MONDO:0019444 trichinellosis skos:exactMatch MEDGEN:21645 semapv:UnspecifiedMatching MONDO:0019444 trichinellosis skos:exactMatch NCIT:C85199 Trichinosis semapv:UnspecifiedMatching MONDO:0019444 trichinellosis skos:exactMatch Orphanet:863 Trichinellosis semapv:UnspecifiedMatching MONDO:0019444 trichinellosis skos:exactMatch SCTID:709018004 semapv:UnspecifiedMatching MONDO:0019444 trichinellosis skos:exactMatch UMLS:C0040896 semapv:UnspecifiedMatching MONDO:0019444 trichinellosis skos:exactMatch icd11.foundation:284613639 Trichinosis semapv:UnspecifiedMatching MONDO:0019444 trichinellosis skos:exactMatch mesh:D014235 semapv:UnspecifiedMatching MONDO:0019445 trichofolliculoma skos:exactMatch MEDGEN:87202 semapv:UnspecifiedMatching MONDO:0019445 trichofolliculoma skos:exactMatch NCIT:C4112 Trichofolliculoma semapv:UnspecifiedMatching MONDO:0019445 trichofolliculoma skos:exactMatch Orphanet:864 Trichofolliculoma semapv:UnspecifiedMatching MONDO:0019445 trichofolliculoma skos:exactMatch SCTID:274899008 semapv:UnspecifiedMatching MONDO:0019445 trichofolliculoma skos:exactMatch UMLS:C0334262 semapv:UnspecifiedMatching MONDO:0019445 trichofolliculoma skos:exactMatch mesh:C536553 semapv:UnspecifiedMatching MONDO:0019446 localized lichen myxedematosus skos:exactMatch MEDGEN:1802421 semapv:UnspecifiedMatching MONDO:0019446 localized lichen myxedematosus skos:exactMatch Orphanet:86795 Localized lichen myxedematosus semapv:UnspecifiedMatching MONDO:0019446 localized lichen myxedematosus skos:exactMatch UMLS:C5575846 semapv:UnspecifiedMatching MONDO:0019446 localized lichen myxedematosus skos:exactMatch icd11.foundation:15830032 Lichen myxoedematosus semapv:UnspecifiedMatching MONDO:0019447 atypical lichen myxedematosus skos:exactMatch MEDGEN:1383234 semapv:UnspecifiedMatching MONDO:0019447 atypical lichen myxedematosus skos:exactMatch Orphanet:86797 Atypical lichen myxedematosus semapv:UnspecifiedMatching MONDO:0019447 atypical lichen myxedematosus skos:exactMatch SCTID:725148000 semapv:UnspecifiedMatching MONDO:0019447 atypical lichen myxedematosus skos:exactMatch UMLS:C4510874 semapv:UnspecifiedMatching MONDO:0019448 benign adult familial myoclonic epilepsy skos:exactMatch MEDGEN:908684 semapv:UnspecifiedMatching MONDO:0019448 benign adult familial myoclonic epilepsy skos:exactMatch Orphanet:86814 Familial adult myoclonic epilepsy semapv:UnspecifiedMatching MONDO:0019448 benign adult familial myoclonic epilepsy skos:exactMatch SCTID:717225001 semapv:UnspecifiedMatching MONDO:0019448 benign adult familial myoclonic epilepsy skos:exactMatch UMLS:C4273988 semapv:UnspecifiedMatching MONDO:0019448 benign adult familial myoclonic epilepsy skos:exactMatch icd11.foundation:1036649329 Benign adult familial myoclonus epilepsy semapv:UnspecifiedMatching MONDO:0019449 lissencephaly type 3-familial fetal akinesia sequence syndrome skos:exactMatch MEDGEN:930924 semapv:UnspecifiedMatching MONDO:0019449 lissencephaly type 3-familial fetal akinesia sequence syndrome skos:exactMatch Orphanet:86821 Lissencephaly type 3-familial fetal akinesia sequence syndrome semapv:UnspecifiedMatching MONDO:0019449 lissencephaly type 3-familial fetal akinesia sequence syndrome skos:exactMatch SCTID:718719001 semapv:UnspecifiedMatching MONDO:0019449 lissencephaly type 3-familial fetal akinesia sequence syndrome skos:exactMatch UMLS:C4305255 semapv:UnspecifiedMatching MONDO:0019450 lissencephaly with cerebellar hypoplasia skos:exactMatch MEDGEN:905529 semapv:UnspecifiedMatching MONDO:0019450 lissencephaly with cerebellar hypoplasia skos:exactMatch Orphanet:86823 Lissencephaly with cerebellar hypoplasia semapv:UnspecifiedMatching MONDO:0019450 lissencephaly with cerebellar hypoplasia skos:exactMatch SCTID:715817007 semapv:UnspecifiedMatching MONDO:0019450 lissencephaly with cerebellar hypoplasia skos:exactMatch UMLS:C4274995 semapv:UnspecifiedMatching MONDO:0019450 lissencephaly with cerebellar hypoplasia skos:exactMatch icd11.foundation:649858830 Lissencephaly with cerebellar hypoplasia semapv:UnspecifiedMatching MONDO:0019451 chronic neutrophilic leukemia skos:exactMatch DOID:0080187 chronic neutrophilic leukemia semapv:UnspecifiedMatching MONDO:0019451 chronic neutrophilic leukemia skos:exactMatch EFO:1000179 semapv:UnspecifiedMatching MONDO:0019451 chronic neutrophilic leukemia skos:exactMatch MEDGEN:6061 semapv:UnspecifiedMatching MONDO:0019451 chronic neutrophilic leukemia skos:exactMatch NCIT:C3179 Chronic Neutrophilic Leukemia semapv:UnspecifiedMatching MONDO:0019451 chronic neutrophilic leukemia skos:exactMatch Orphanet:86829 Chronic neutrophilic leukemia semapv:UnspecifiedMatching MONDO:0019451 chronic neutrophilic leukemia skos:exactMatch SCTID:188734009 semapv:UnspecifiedMatching MONDO:0019451 chronic neutrophilic leukemia skos:exactMatch UMLS:C0023481 semapv:UnspecifiedMatching MONDO:0019451 chronic neutrophilic leukemia skos:exactMatch icd11.foundation:426734182 Chronic neutrophilic leukaemia semapv:UnspecifiedMatching MONDO:0019451 chronic neutrophilic leukemia skos:exactMatch mesh:D015467 semapv:UnspecifiedMatching MONDO:0019452 myeloproliferative neoplasm, unclassifiable skos:exactMatch MEDGEN:232365 semapv:UnspecifiedMatching MONDO:0019452 myeloproliferative neoplasm, unclassifiable skos:exactMatch NCIT:C27350 Myeloproliferative Neoplasm, Not Otherwise Specified semapv:UnspecifiedMatching MONDO:0019452 myeloproliferative neoplasm, unclassifiable skos:exactMatch Orphanet:86830 Chronic myeloproliferative disease, unclassifiable semapv:UnspecifiedMatching MONDO:0019452 myeloproliferative neoplasm, unclassifiable skos:exactMatch UMLS:C1333046 semapv:UnspecifiedMatching MONDO:0019453 myelodysplastic syndrome with multilineage dysplasia skos:exactMatch ICD10CM:D46.A Refractory cytopenia with multilineage dysplasia semapv:UnspecifiedMatching MONDO:0019453 myelodysplastic syndrome with multilineage dysplasia skos:exactMatch MEDGEN:208726 semapv:UnspecifiedMatching MONDO:0019453 myelodysplastic syndrome with multilineage dysplasia skos:exactMatch NCIT:C8574 Myelodysplastic Syndrome, Not Otherwise Specified with Multilineage Dysplasia semapv:UnspecifiedMatching MONDO:0019453 myelodysplastic syndrome with multilineage dysplasia skos:exactMatch Orphanet:86836 Refractory cytopenia with multilineage dysplasia semapv:UnspecifiedMatching MONDO:0019453 myelodysplastic syndrome with multilineage dysplasia skos:exactMatch SCTID:415285009 semapv:UnspecifiedMatching MONDO:0019453 myelodysplastic syndrome with multilineage dysplasia skos:exactMatch UMLS:C0796466 semapv:UnspecifiedMatching MONDO:0019454 myelodysplastic syndrome with excess blasts skos:exactMatch EFO:0003811 semapv:UnspecifiedMatching MONDO:0019454 myelodysplastic syndrome with excess blasts skos:exactMatch MEDGEN:8066 semapv:UnspecifiedMatching MONDO:0019454 myelodysplastic syndrome with excess blasts skos:exactMatch NCIT:C7506 Myelodysplastic Syndrome with Excess Blasts semapv:UnspecifiedMatching MONDO:0019454 myelodysplastic syndrome with excess blasts skos:exactMatch Orphanet:86839 Myelodysplastic neoplasm with increased blasts semapv:UnspecifiedMatching MONDO:0019454 myelodysplastic syndrome with excess blasts skos:exactMatch SCTID:398623004 semapv:UnspecifiedMatching MONDO:0019454 myelodysplastic syndrome with excess blasts skos:exactMatch UMLS:C0002894 semapv:UnspecifiedMatching MONDO:0019454 myelodysplastic syndrome with excess blasts skos:exactMatch mesh:D000754 semapv:UnspecifiedMatching MONDO:0019455 acute panmyelosis with myelofibrosis skos:exactMatch ICD10CM:C94.4 Acute panmyelosis with myelofibrosis semapv:UnspecifiedMatching MONDO:0019455 acute panmyelosis with myelofibrosis skos:exactMatch MEDGEN:87279 semapv:UnspecifiedMatching MONDO:0019455 acute panmyelosis with myelofibrosis skos:exactMatch NCIT:C4344 Acute Panmyelosis with Myelofibrosis semapv:UnspecifiedMatching MONDO:0019455 acute panmyelosis with myelofibrosis skos:exactMatch Orphanet:86843 Acute panmyelosis with myelofibrosis semapv:UnspecifiedMatching MONDO:0019455 acute panmyelosis with myelofibrosis skos:exactMatch SCTID:109991003 semapv:UnspecifiedMatching MONDO:0019455 acute panmyelosis with myelofibrosis skos:exactMatch UMLS:C0334674 semapv:UnspecifiedMatching MONDO:0019455 acute panmyelosis with myelofibrosis skos:exactMatch icd11.foundation:1831346835 semapv:UnspecifiedMatching MONDO:0019455 acute panmyelosis with myelofibrosis skos:exactMatch icd11.foundation:585339631 Acute panmyelosis with myelofibrosis semapv:UnspecifiedMatching MONDO:0019456 acute myeloid leukemia with multilineage dysplasia skos:exactMatch ICD10CM:C92.A Acute myeloid leukemia with multilineage dysplasia semapv:UnspecifiedMatching MONDO:0019456 acute myeloid leukemia with multilineage dysplasia skos:exactMatch MEDGEN:224861 semapv:UnspecifiedMatching MONDO:0019456 acute myeloid leukemia with multilineage dysplasia skos:exactMatch NCIT:C9289 Acute Myeloid Leukemia with Multilineage Dysplasia semapv:UnspecifiedMatching MONDO:0019456 acute myeloid leukemia with multilineage dysplasia skos:exactMatch Orphanet:86845 Acute myeloid leukaemia with myelodysplasia-related features semapv:UnspecifiedMatching MONDO:0019456 acute myeloid leukemia with multilineage dysplasia skos:exactMatch SCTID:445448008 semapv:UnspecifiedMatching MONDO:0019456 acute myeloid leukemia with multilineage dysplasia skos:exactMatch UMLS:C1292773 semapv:UnspecifiedMatching MONDO:0019456 acute myeloid leukemia with multilineage dysplasia skos:exactMatch icd11.foundation:1235412948 Acute myeloid leukaemia with myelodysplasia-related changes semapv:UnspecifiedMatching MONDO:0019457 therapy related acute myeloid leukemia and myelodysplastic syndrome skos:exactMatch MEDGEN:220954 semapv:UnspecifiedMatching MONDO:0019457 therapy related acute myeloid leukemia and myelodysplastic syndrome skos:exactMatch NCIT:C25765 Secondary Acute Myeloid Leukemia semapv:UnspecifiedMatching MONDO:0019457 therapy related acute myeloid leukemia and myelodysplastic syndrome skos:exactMatch Orphanet:86846 Therapy related acute myeloid leukemia and myelodysplastic syndrome semapv:UnspecifiedMatching MONDO:0019457 therapy related acute myeloid leukemia and myelodysplastic syndrome skos:exactMatch SCTID:721306009 semapv:UnspecifiedMatching MONDO:0019457 therapy related acute myeloid leukemia and myelodysplastic syndrome skos:exactMatch UMLS:C1292776 semapv:UnspecifiedMatching MONDO:0019457 therapy related acute myeloid leukemia and myelodysplastic syndrome skos:exactMatch icd11.foundation:1581599493 Therapy related acute myeloid leukaemia or myelodysplastic syndrome semapv:UnspecifiedMatching MONDO:0019458 acute basophilic leukemia skos:exactMatch DOID:0080795 acute basophilic leukemia semapv:UnspecifiedMatching MONDO:0019458 acute basophilic leukemia skos:exactMatch EFO:0003029 semapv:UnspecifiedMatching MONDO:0019458 acute basophilic leukemia skos:exactMatch MEDGEN:7314 semapv:UnspecifiedMatching MONDO:0019458 acute basophilic leukemia skos:exactMatch NCIT:C3164 Acute Basophilic Leukemia semapv:UnspecifiedMatching MONDO:0019458 acute basophilic leukemia skos:exactMatch Orphanet:86849 Acute basophilic leukemia semapv:UnspecifiedMatching MONDO:0019458 acute basophilic leukemia skos:exactMatch SCTID:307592006 semapv:UnspecifiedMatching MONDO:0019458 acute basophilic leukemia skos:exactMatch UMLS:C0023437 semapv:UnspecifiedMatching MONDO:0019458 acute basophilic leukemia skos:exactMatch icd11.foundation:1632520399 Acute basophilic leukaemia semapv:UnspecifiedMatching MONDO:0019458 acute basophilic leukemia skos:exactMatch mesh:D015471 semapv:UnspecifiedMatching MONDO:0019460 acute leukemia of ambiguous lineage skos:exactMatch MEDGEN:226983 semapv:UnspecifiedMatching MONDO:0019460 acute leukemia of ambiguous lineage skos:exactMatch NCIT:C7464 Acute Leukemia of Ambiguous Lineage semapv:UnspecifiedMatching MONDO:0019460 acute leukemia of ambiguous lineage skos:exactMatch Orphanet:86851 Acute leukemia of ambiguous lineage semapv:UnspecifiedMatching MONDO:0019460 acute leukemia of ambiguous lineage skos:exactMatch SCTID:721308005 semapv:UnspecifiedMatching MONDO:0019460 acute leukemia of ambiguous lineage skos:exactMatch UMLS:C1301357 semapv:UnspecifiedMatching MONDO:0019460 acute leukemia of ambiguous lineage skos:exactMatch icd11.foundation:1062906118 Acute leukaemias of ambiguous lineage semapv:UnspecifiedMatching MONDO:0019461 B-cell prolymphocytic leukemia skos:exactMatch DOID:0081041 B-cell prolymphocytic leukemia semapv:UnspecifiedMatching MONDO:0019461 B-cell prolymphocytic leukemia skos:exactMatch EFO:1000102 semapv:UnspecifiedMatching MONDO:0019461 B-cell prolymphocytic leukemia skos:exactMatch MEDGEN:105396 semapv:UnspecifiedMatching MONDO:0019461 B-cell prolymphocytic leukemia skos:exactMatch NCIT:C4753 B-Cell Prolymphocytic Leukemia semapv:UnspecifiedMatching MONDO:0019461 B-cell prolymphocytic leukemia skos:exactMatch Orphanet:86852 B-cell prolymphocytic leukemia semapv:UnspecifiedMatching MONDO:0019461 B-cell prolymphocytic leukemia skos:exactMatch SCTID:277619001 semapv:UnspecifiedMatching MONDO:0019461 B-cell prolymphocytic leukemia skos:exactMatch UMLS:C0475801 semapv:UnspecifiedMatching MONDO:0019461 B-cell prolymphocytic leukemia skos:exactMatch icd11.foundation:1997215876 B-cell prolymphocytic leukaemia semapv:UnspecifiedMatching MONDO:0019461 B-cell prolymphocytic leukemia skos:exactMatch mesh:D054403 semapv:UnspecifiedMatching MONDO:0019462 splenic marginal zone lymphoma skos:exactMatch DOID:0050750 splenic marginal zone lymphoma semapv:UnspecifiedMatching MONDO:0019462 splenic marginal zone lymphoma skos:exactMatch EFO:1000550 semapv:UnspecifiedMatching MONDO:0019462 splenic marginal zone lymphoma skos:exactMatch MEDGEN:138108 semapv:UnspecifiedMatching MONDO:0019462 splenic marginal zone lymphoma skos:exactMatch NCIT:C4663 Splenic Marginal Zone Lymphoma semapv:UnspecifiedMatching MONDO:0019462 splenic marginal zone lymphoma skos:exactMatch Orphanet:86854 Splenic marginal zone lymphoma semapv:UnspecifiedMatching MONDO:0019462 splenic marginal zone lymphoma skos:exactMatch SCTID:763666008 semapv:UnspecifiedMatching MONDO:0019462 splenic marginal zone lymphoma skos:exactMatch UMLS:C0349632 semapv:UnspecifiedMatching MONDO:0019462 splenic marginal zone lymphoma skos:exactMatch icd11.foundation:1002343712 Splenic marginal zone lymphoma semapv:UnspecifiedMatching MONDO:0019463 non-amyloid monoclonal immunoglobulin deposition disease skos:exactMatch MEDGEN:1716147 semapv:UnspecifiedMatching MONDO:0019463 non-amyloid monoclonal immunoglobulin deposition disease skos:exactMatch Orphanet:86861 Non-amyloid monoclonal immunoglobulin deposition disease semapv:UnspecifiedMatching MONDO:0019463 non-amyloid monoclonal immunoglobulin deposition disease skos:exactMatch UMLS:C5394673 semapv:UnspecifiedMatching MONDO:0019464 heavy chain disease skos:exactMatch DOID:0060125 heavy chain disease semapv:UnspecifiedMatching MONDO:0019464 heavy chain disease skos:exactMatch EFO:1001341 semapv:UnspecifiedMatching MONDO:0019464 heavy chain disease skos:exactMatch ICD10CM:C88.2 Heavy chain disease semapv:UnspecifiedMatching MONDO:0019464 heavy chain disease skos:exactMatch MEDGEN:5469 semapv:UnspecifiedMatching MONDO:0019464 heavy chain disease skos:exactMatch NCIT:C3082 Heavy Chain Disease semapv:UnspecifiedMatching MONDO:0019464 heavy chain disease skos:exactMatch Orphanet:86864 Heavy chain disease semapv:UnspecifiedMatching MONDO:0019464 heavy chain disease skos:exactMatch SCTID:68979007 semapv:UnspecifiedMatching MONDO:0019464 heavy chain disease skos:exactMatch UMLS:C0018852 semapv:UnspecifiedMatching MONDO:0019464 heavy chain disease skos:exactMatch mesh:D006362 semapv:UnspecifiedMatching MONDO:0019465 nodal marginal zone B-cell lymphoma skos:exactMatch DOID:0080211 nodal marginal zone lymphoma semapv:UnspecifiedMatching MONDO:0019465 nodal marginal zone B-cell lymphoma skos:exactMatch MEDGEN:208959 semapv:UnspecifiedMatching MONDO:0019465 nodal marginal zone B-cell lymphoma skos:exactMatch NCIT:C8863 Nodal Marginal Zone Lymphoma semapv:UnspecifiedMatching MONDO:0019465 nodal marginal zone B-cell lymphoma skos:exactMatch Orphanet:86867 Nodal marginal zone B-cell lymphoma semapv:UnspecifiedMatching MONDO:0019465 nodal marginal zone B-cell lymphoma skos:exactMatch SCTID:277623009 semapv:UnspecifiedMatching MONDO:0019465 nodal marginal zone B-cell lymphoma skos:exactMatch UMLS:C0855139 semapv:UnspecifiedMatching MONDO:0019465 nodal marginal zone B-cell lymphoma skos:exactMatch icd11.foundation:1720785883 Nodal marginal zone lymphoma semapv:UnspecifiedMatching MONDO:0019466 lymphomatoid granulomatosis skos:exactMatch DOID:0081307 lymphomatoid granulomatosis semapv:UnspecifiedMatching MONDO:0019466 lymphomatoid granulomatosis skos:exactMatch MEDGEN:6161 semapv:UnspecifiedMatching MONDO:0019466 lymphomatoid granulomatosis skos:exactMatch NCIT:C7930 Lymphomatoid Granulomatosis semapv:UnspecifiedMatching MONDO:0019466 lymphomatoid granulomatosis skos:exactMatch Orphanet:86869 Lymphomatoid granulomatosis semapv:UnspecifiedMatching MONDO:0019466 lymphomatoid granulomatosis skos:exactMatch SCTID:239940004 semapv:UnspecifiedMatching MONDO:0019466 lymphomatoid granulomatosis skos:exactMatch UMLS:C0024307 semapv:UnspecifiedMatching MONDO:0019466 lymphomatoid granulomatosis skos:exactMatch icd11.foundation:1890408959 Lymphomatoid granulomatosis semapv:UnspecifiedMatching MONDO:0019466 lymphomatoid granulomatosis skos:exactMatch mesh:D008230 semapv:UnspecifiedMatching MONDO:0019467 CD4+/CD56+ hematodermic neoplasm skos:exactMatch DOID:0081076 blastic plasmacytoid dendritic cell neoplasm semapv:UnspecifiedMatching MONDO:0019467 CD4+/CD56+ hematodermic neoplasm skos:exactMatch EFO:0010580 semapv:UnspecifiedMatching MONDO:0019467 CD4+/CD56+ hematodermic neoplasm skos:exactMatch ICD10CM:C86.4 Blastic NK-cell lymphoma semapv:UnspecifiedMatching MONDO:0019467 CD4+/CD56+ hematodermic neoplasm skos:exactMatch MEDGEN:220972 semapv:UnspecifiedMatching MONDO:0019467 CD4+/CD56+ hematodermic neoplasm skos:exactMatch NCIT:C7203 Blastic Plasmacytoid Dendritic Cell Neoplasm semapv:UnspecifiedMatching MONDO:0019467 CD4+/CD56+ hematodermic neoplasm skos:exactMatch Orphanet:86870 Blastic plasmacytoid dendritic cell neoplasm semapv:UnspecifiedMatching MONDO:0019467 CD4+/CD56+ hematodermic neoplasm skos:exactMatch SCTID:445105005 semapv:UnspecifiedMatching MONDO:0019467 CD4+/CD56+ hematodermic neoplasm skos:exactMatch UMLS:C1301363 semapv:UnspecifiedMatching MONDO:0019467 CD4+/CD56+ hematodermic neoplasm skos:exactMatch icd11.foundation:783045723 Blastic plasmacytoid dendritic cell neoplasm semapv:UnspecifiedMatching MONDO:0019468 T-cell prolymphocytic leukemia skos:exactMatch DOID:0081042 T-cell prolymphocytic leukemia semapv:UnspecifiedMatching MONDO:0019468 T-cell prolymphocytic leukemia skos:exactMatch EFO:1000560 semapv:UnspecifiedMatching MONDO:0019468 T-cell prolymphocytic leukemia skos:exactMatch MEDGEN:391707 semapv:UnspecifiedMatching MONDO:0019468 T-cell prolymphocytic leukemia skos:exactMatch NCIT:C4752 T-Cell Prolymphocytic Leukemia semapv:UnspecifiedMatching MONDO:0019468 T-cell prolymphocytic leukemia skos:exactMatch Orphanet:86871 T-cell prolymphocytic leukemia semapv:UnspecifiedMatching MONDO:0019468 T-cell prolymphocytic leukemia skos:exactMatch SCTID:277545003 semapv:UnspecifiedMatching MONDO:0019468 T-cell prolymphocytic leukemia skos:exactMatch SCTID:277567002 semapv:UnspecifiedMatching MONDO:0019468 T-cell prolymphocytic leukemia skos:exactMatch UMLS:C2363142 semapv:UnspecifiedMatching MONDO:0019468 T-cell prolymphocytic leukemia skos:exactMatch icd11.foundation:352523899 T-cell prolymphocytic leukaemia semapv:UnspecifiedMatching MONDO:0019468 T-cell prolymphocytic leukemia skos:exactMatch mesh:D015461 semapv:UnspecifiedMatching MONDO:0019469 T-cell large granular lymphocyte leukemia skos:exactMatch DOID:0050751 T-cell large granular lymphocyte leukemia semapv:UnspecifiedMatching MONDO:0019469 T-cell large granular lymphocyte leukemia skos:exactMatch MEDGEN:363038 semapv:UnspecifiedMatching MONDO:0019469 T-cell large granular lymphocyte leukemia skos:exactMatch NCIT:C4664 T-Cell Large Granular Lymphocyte Leukemia semapv:UnspecifiedMatching MONDO:0019469 T-cell large granular lymphocyte leukemia skos:exactMatch Orphanet:86872 T-cell large granular lymphocyte leukemia semapv:UnspecifiedMatching MONDO:0019469 T-cell large granular lymphocyte leukemia skos:exactMatch SCTID:277569004 semapv:UnspecifiedMatching MONDO:0019469 T-cell large granular lymphocyte leukemia skos:exactMatch UMLS:C1955861 semapv:UnspecifiedMatching MONDO:0019469 T-cell large granular lymphocyte leukemia skos:exactMatch icd11.foundation:83430037 T-cell large granular lymphocytic leukaemia semapv:UnspecifiedMatching MONDO:0019470 aggressive NK-cell leukemia skos:exactMatch DOID:1035 aggressive NK-cell leukemia semapv:UnspecifiedMatching MONDO:0019470 aggressive NK-cell leukemia skos:exactMatch MEDGEN:266235 semapv:UnspecifiedMatching MONDO:0019470 aggressive NK-cell leukemia skos:exactMatch NCIT:C8647 Aggressive NK-Cell Leukemia semapv:UnspecifiedMatching MONDO:0019470 aggressive NK-cell leukemia skos:exactMatch Orphanet:86873 Aggressive NK-cell leukemia semapv:UnspecifiedMatching MONDO:0019470 aggressive NK-cell leukemia skos:exactMatch SCTID:721310007 semapv:UnspecifiedMatching MONDO:0019470 aggressive NK-cell leukemia skos:exactMatch UMLS:C1292777 semapv:UnspecifiedMatching MONDO:0019470 aggressive NK-cell leukemia skos:exactMatch icd11.foundation:153957345 Aggressive NK cell leukaemia semapv:UnspecifiedMatching MONDO:0019471 adult T-cell leukemia/lymphoma skos:exactMatch DOID:0050523 adult T-cell leukemia/lymphoma semapv:UnspecifiedMatching MONDO:0019471 adult T-cell leukemia/lymphoma skos:exactMatch MEDGEN:44128 semapv:UnspecifiedMatching MONDO:0019471 adult T-cell leukemia/lymphoma skos:exactMatch NCIT:C3184 Adult T-Cell Leukemia/Lymphoma semapv:UnspecifiedMatching MONDO:0019471 adult T-cell leukemia/lymphoma skos:exactMatch Orphanet:86875 Adult T-cell leukemia/lymphoma semapv:UnspecifiedMatching MONDO:0019471 adult T-cell leukemia/lymphoma skos:exactMatch SCTID:110007008 semapv:UnspecifiedMatching MONDO:0019471 adult T-cell leukemia/lymphoma skos:exactMatch UMLS:C0023493 semapv:UnspecifiedMatching MONDO:0019471 adult T-cell leukemia/lymphoma skos:exactMatch icd11.foundation:430573082 semapv:UnspecifiedMatching MONDO:0019472 extranodal nasal NK/T cell lymphoma skos:exactMatch DOID:0080797 nasal type extranodal NK/T-cell lymphoma semapv:UnspecifiedMatching MONDO:0019472 extranodal nasal NK/T cell lymphoma skos:exactMatch ICD10CM:C86.0 Extranodal NK/T-cell lymphoma, nasal type semapv:UnspecifiedMatching MONDO:0019472 extranodal nasal NK/T cell lymphoma skos:exactMatch MEDGEN:140278 semapv:UnspecifiedMatching MONDO:0019472 extranodal nasal NK/T cell lymphoma skos:exactMatch NCIT:C4684 Nasal Type Extranodal NK/T-Cell Lymphoma semapv:UnspecifiedMatching MONDO:0019472 extranodal nasal NK/T cell lymphoma skos:exactMatch Orphanet:86879 Extranodal nasal NK/T cell lymphoma semapv:UnspecifiedMatching MONDO:0019472 extranodal nasal NK/T cell lymphoma skos:exactMatch UMLS:C0392788 semapv:UnspecifiedMatching MONDO:0019472 extranodal nasal NK/T cell lymphoma skos:exactMatch icd11.foundation:684005900 Extranodal NK/T-cell lymphoma, nasal type semapv:UnspecifiedMatching MONDO:0019473 enteropathy-associated T-cell lymphoma skos:exactMatch ICD10CM:C86.2 Enteropathy-type (intestinal) T-cell lymphoma semapv:UnspecifiedMatching MONDO:0019473 enteropathy-associated T-cell lymphoma skos:exactMatch MEDGEN:96832 semapv:UnspecifiedMatching MONDO:0019473 enteropathy-associated T-cell lymphoma skos:exactMatch NCIT:C4737 Enteropathy-Associated T-Cell Lymphoma semapv:UnspecifiedMatching MONDO:0019473 enteropathy-associated T-cell lymphoma skos:exactMatch Orphanet:86880 Enteropathy-associated T-cell lymphoma semapv:UnspecifiedMatching MONDO:0019473 enteropathy-associated T-cell lymphoma skos:exactMatch SCTID:277654008 semapv:UnspecifiedMatching MONDO:0019473 enteropathy-associated T-cell lymphoma skos:exactMatch UMLS:C0456889 semapv:UnspecifiedMatching MONDO:0019473 enteropathy-associated T-cell lymphoma skos:exactMatch icd11.foundation:958629729 Enteropathy associated T-cell lymphoma semapv:UnspecifiedMatching MONDO:0019473 enteropathy-associated T-cell lymphoma skos:exactMatch mesh:D058527 semapv:UnspecifiedMatching MONDO:0019474 hepatosplenic T-cell lymphoma skos:exactMatch DOID:0081049 hepatosplenic T-cell lymphoma semapv:UnspecifiedMatching MONDO:0019474 hepatosplenic T-cell lymphoma skos:exactMatch ICD10CM:C86.1 Hepatosplenic T-cell lymphoma semapv:UnspecifiedMatching MONDO:0019474 hepatosplenic T-cell lymphoma skos:exactMatch MEDGEN:272711 semapv:UnspecifiedMatching MONDO:0019474 hepatosplenic T-cell lymphoma skos:exactMatch NCIT:C8459 Hepatosplenic T-Cell Lymphoma semapv:UnspecifiedMatching MONDO:0019474 hepatosplenic T-cell lymphoma skos:exactMatch Orphanet:86882 Hepatosplenic T-cell lymphoma semapv:UnspecifiedMatching MONDO:0019474 hepatosplenic T-cell lymphoma skos:exactMatch SCTID:445406001 semapv:UnspecifiedMatching MONDO:0019474 hepatosplenic T-cell lymphoma skos:exactMatch UMLS:C1333984 semapv:UnspecifiedMatching MONDO:0019474 hepatosplenic T-cell lymphoma skos:exactMatch icd11.foundation:1301206942 Hepatosplenic T-cell lymphoma semapv:UnspecifiedMatching MONDO:0019475 subcutaneous panniculitis-like T-cell lymphoma skos:exactMatch DOID:0070662 subcutaneous panniculitis-like T-cell lymphoma semapv:UnspecifiedMatching MONDO:0019475 subcutaneous panniculitis-like T-cell lymphoma skos:exactMatch EFO:1000552 semapv:UnspecifiedMatching MONDO:0019475 subcutaneous panniculitis-like T-cell lymphoma skos:exactMatch ICD10CM:C86.3 Subcutaneous panniculitis-like T-cell lymphoma semapv:UnspecifiedMatching MONDO:0019475 subcutaneous panniculitis-like T-cell lymphoma skos:exactMatch MEDGEN:99306 semapv:UnspecifiedMatching MONDO:0019475 subcutaneous panniculitis-like T-cell lymphoma skos:exactMatch NCIT:C6918 Subcutaneous Panniculitis-Like T-Cell Lymphoma semapv:UnspecifiedMatching MONDO:0019475 subcutaneous panniculitis-like T-cell lymphoma skos:exactMatch OMIM:618398 t-cell lymphoma, subcutaneous panniculitis-like semapv:UnspecifiedMatching MONDO:0019475 subcutaneous panniculitis-like T-cell lymphoma skos:exactMatch Orphanet:86884 Subcutaneous panniculitis-like T-cell lymphoma semapv:UnspecifiedMatching MONDO:0019475 subcutaneous panniculitis-like T-cell lymphoma skos:exactMatch SCTID:404133000 semapv:UnspecifiedMatching MONDO:0019475 subcutaneous panniculitis-like T-cell lymphoma skos:exactMatch UMLS:C0522624 semapv:UnspecifiedMatching MONDO:0019475 subcutaneous panniculitis-like T-cell lymphoma skos:exactMatch icd11.foundation:1550338805 Subcutaneous panniculitis-like T-cell lymphoma semapv:UnspecifiedMatching MONDO:0019475 subcutaneous panniculitis-like T-cell lymphoma skos:exactMatch mesh:C537503 semapv:UnspecifiedMatching MONDO:0019476 primary cutaneous peripheral T-cell lymphoma not otherwise specified skos:exactMatch MEDGEN:38240 semapv:UnspecifiedMatching MONDO:0019476 primary cutaneous peripheral T-cell lymphoma not otherwise specified skos:exactMatch NCIT:C201080 Primary Cutaneous Peripheral T-Cell Lymphoma, Not Otherwise Specified semapv:UnspecifiedMatching MONDO:0019476 primary cutaneous peripheral T-cell lymphoma not otherwise specified skos:exactMatch Orphanet:86885 Primary cutaneous peripheral T-cell lymphoma not otherwise specified semapv:UnspecifiedMatching MONDO:0019476 primary cutaneous peripheral T-cell lymphoma not otherwise specified skos:exactMatch UMLS:C0079774 semapv:UnspecifiedMatching MONDO:0019478 adult nodular lymphocyte predominant Hodgkin lymphoma skos:exactMatch MEDGEN:231044 semapv:UnspecifiedMatching MONDO:0019478 adult nodular lymphocyte predominant Hodgkin lymphoma skos:exactMatch NCIT:C7942 Adult Nodular Lymphocyte Predominant B-Cell Lymphoma semapv:UnspecifiedMatching MONDO:0019478 adult nodular lymphocyte predominant Hodgkin lymphoma skos:exactMatch UMLS:C1332210 semapv:UnspecifiedMatching MONDO:0019479 histiocytic sarcoma skos:exactMatch DOID:0080915 histiocytic sarcoma semapv:UnspecifiedMatching MONDO:0019479 histiocytic sarcoma skos:exactMatch ICD10CM:C96.A Histiocytic sarcoma semapv:UnspecifiedMatching MONDO:0019479 histiocytic sarcoma skos:exactMatch MEDGEN:137793 semapv:UnspecifiedMatching MONDO:0019479 histiocytic sarcoma skos:exactMatch NCIT:C27349 Histiocytic Sarcoma semapv:UnspecifiedMatching MONDO:0019479 histiocytic sarcoma skos:exactMatch Orphanet:86896 Histiocytic sarcoma semapv:UnspecifiedMatching MONDO:0019479 histiocytic sarcoma skos:exactMatch SCTID:109988003 semapv:UnspecifiedMatching MONDO:0019479 histiocytic sarcoma skos:exactMatch UMLS:C0334663 semapv:UnspecifiedMatching MONDO:0019479 histiocytic sarcoma skos:exactMatch icd11.foundation:1925254893 semapv:UnspecifiedMatching MONDO:0019479 histiocytic sarcoma skos:exactMatch icd11.foundation:911785965 Histiocytic sarcoma semapv:UnspecifiedMatching MONDO:0019479 histiocytic sarcoma skos:exactMatch mesh:D054747 semapv:UnspecifiedMatching MONDO:0019480 Langerhans cell sarcoma skos:exactMatch DOID:7146 Langerhans cell sarcoma semapv:UnspecifiedMatching MONDO:0019480 Langerhans cell sarcoma skos:exactMatch EFO:0007336 semapv:UnspecifiedMatching MONDO:0019480 Langerhans cell sarcoma skos:exactMatch MEDGEN:266041 semapv:UnspecifiedMatching MONDO:0019480 Langerhans cell sarcoma skos:exactMatch NCIT:C6921 Langerhans Cell Sarcoma semapv:UnspecifiedMatching MONDO:0019480 Langerhans cell sarcoma skos:exactMatch Orphanet:86897 Langerhans cell sarcoma semapv:UnspecifiedMatching MONDO:0019480 Langerhans cell sarcoma skos:exactMatch SCTID:724649000 semapv:UnspecifiedMatching MONDO:0019480 Langerhans cell sarcoma skos:exactMatch UMLS:C1260327 semapv:UnspecifiedMatching MONDO:0019480 Langerhans cell sarcoma skos:exactMatch icd11.foundation:588958190 Langerhans cell sarcoma semapv:UnspecifiedMatching MONDO:0019480 Langerhans cell sarcoma skos:exactMatch icd11.foundation:933337476 semapv:UnspecifiedMatching MONDO:0019480 Langerhans cell sarcoma skos:exactMatch mesh:D054752 semapv:UnspecifiedMatching MONDO:0019483 methotrexate-associated lymphoproliferative disorders skos:exactMatch DOID:5821 methotrexate-associated lymphoproliferation semapv:UnspecifiedMatching MONDO:0019483 methotrexate-associated lymphoproliferative disorders skos:exactMatch MEDGEN:233702 semapv:UnspecifiedMatching MONDO:0019483 methotrexate-associated lymphoproliferative disorders skos:exactMatch NCIT:C7184 Methotrexate-Associated Lymphoproliferative Disorder semapv:UnspecifiedMatching MONDO:0019483 methotrexate-associated lymphoproliferative disorders skos:exactMatch Orphanet:86904 Methotrexate-associated lymphoproliferative disorders semapv:UnspecifiedMatching MONDO:0019483 methotrexate-associated lymphoproliferative disorders skos:exactMatch UMLS:C1334749 semapv:UnspecifiedMatching MONDO:0019483 methotrexate-associated lymphoproliferative disorders skos:exactMatch icd11.foundation:1520483526 Methotrexate-associated lymphoproliferative disorders semapv:UnspecifiedMatching MONDO:0019484 hypothalamic hamartomas with gelastic seizures skos:exactMatch MEDGEN:1642420 semapv:UnspecifiedMatching MONDO:0019484 hypothalamic hamartomas with gelastic seizures skos:exactMatch Orphanet:86906 Gelastic seizures with hypothalamic hamartoma semapv:UnspecifiedMatching MONDO:0019484 hypothalamic hamartomas with gelastic seizures skos:exactMatch UMLS:C4707883 semapv:UnspecifiedMatching MONDO:0019485 idiopathic hemiconvulsion-hemiplegia syndrome skos:exactMatch MEDGEN:639806 semapv:UnspecifiedMatching MONDO:0019485 idiopathic hemiconvulsion-hemiplegia syndrome skos:exactMatch Orphanet:86908 Hemiconvulsion-hemiplegia-epilepsy syndrome semapv:UnspecifiedMatching MONDO:0019485 idiopathic hemiconvulsion-hemiplegia syndrome skos:exactMatch SCTID:230407006 semapv:UnspecifiedMatching MONDO:0019485 idiopathic hemiconvulsion-hemiplegia syndrome skos:exactMatch UMLS:C0549118 semapv:UnspecifiedMatching MONDO:0019487 epilepsy with myoclonic absences skos:exactMatch MEDGEN:140741 semapv:UnspecifiedMatching MONDO:0019487 epilepsy with myoclonic absences skos:exactMatch Orphanet:86911 Epilepsy with myoclonic absences semapv:UnspecifiedMatching MONDO:0019487 epilepsy with myoclonic absences skos:exactMatch SCTID:230422001 semapv:UnspecifiedMatching MONDO:0019487 epilepsy with myoclonic absences skos:exactMatch UMLS:C0393703 semapv:UnspecifiedMatching MONDO:0019487 epilepsy with myoclonic absences skos:exactMatch icd11.foundation:274380122 Myoclonic absences or absences with myoclonias semapv:UnspecifiedMatching MONDO:0019488 myoclonic epilepsy in non-progressive encephalopathies skos:exactMatch MEDGEN:1661865 semapv:UnspecifiedMatching MONDO:0019488 myoclonic epilepsy in non-progressive encephalopathies skos:exactMatch Orphanet:86913 Myoclonic epilepsy in non-progressive encephalopathies semapv:UnspecifiedMatching MONDO:0019488 myoclonic epilepsy in non-progressive encephalopathies skos:exactMatch UMLS:C4755298 semapv:UnspecifiedMatching MONDO:0019489 diffuse palmoplantar keratoderma - acrocyanosis syndrome skos:exactMatch MEDGEN:929257 semapv:UnspecifiedMatching MONDO:0019489 diffuse palmoplantar keratoderma - acrocyanosis syndrome skos:exactMatch Orphanet:86918 Diffuse palmoplantar keratoderma-acrocyanosis syndrome semapv:UnspecifiedMatching MONDO:0019489 diffuse palmoplantar keratoderma - acrocyanosis syndrome skos:exactMatch UMLS:C4303588 semapv:UnspecifiedMatching MONDO:0019490 progressive familial heart block skos:exactMatch DOID:0111073 progressive familial heart block semapv:UnspecifiedMatching MONDO:0019490 progressive familial heart block skos:exactMatch OMIMPS:113900 Progressive familial heart block semapv:UnspecifiedMatching MONDO:0019490 progressive familial heart block skos:exactMatch Orphanet:871 Hereditary progressive cardiac conduction defect semapv:UnspecifiedMatching MONDO:0019490 progressive familial heart block skos:exactMatch SCTID:698249005 semapv:UnspecifiedMatching MONDO:0019490 progressive familial heart block skos:exactMatch icd11.foundation:1762068981 Familial progressive cardiac conduction defect semapv:UnspecifiedMatching MONDO:0019491 obsolete rare intellectual disability skos:exactMatch Orphanet:87277 Rare intellectual disability semapv:UnspecifiedMatching MONDO:0019493 primary adult heart tumor skos:exactMatch MEDGEN:900582 semapv:UnspecifiedMatching MONDO:0019493 primary adult heart tumor skos:exactMatch Orphanet:874 Primary adult heart tumor semapv:UnspecifiedMatching MONDO:0019493 primary adult heart tumor skos:exactMatch SCTID:715403006 semapv:UnspecifiedMatching MONDO:0019493 primary adult heart tumor skos:exactMatch UMLS:C4275152 semapv:UnspecifiedMatching MONDO:0019493 primary adult heart tumor skos:exactMatch icd11.foundation:1784866291 Adult heart tumour semapv:UnspecifiedMatching MONDO:0019494 primary pediatric heart tumor skos:exactMatch MEDGEN:895113 semapv:UnspecifiedMatching MONDO:0019494 primary pediatric heart tumor skos:exactMatch Orphanet:875 Primary pediatric heart tumor semapv:UnspecifiedMatching MONDO:0019494 primary pediatric heart tumor skos:exactMatch UMLS:C4274356 semapv:UnspecifiedMatching MONDO:0019496 neuroendocrine neoplasm skos:exactMatch DOID:169 neuroendocrine tumor semapv:UnspecifiedMatching MONDO:0019496 neuroendocrine neoplasm skos:exactMatch EFO:1001901 semapv:UnspecifiedMatching MONDO:0019496 neuroendocrine neoplasm skos:exactMatch MEDGEN:64652 semapv:UnspecifiedMatching MONDO:0019496 neuroendocrine neoplasm skos:exactMatch NCIT:C188218 Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO:0019496 neuroendocrine neoplasm skos:exactMatch NCIT:C3809 Neuroendocrine Neoplasm semapv:UnspecifiedMatching MONDO:0019496 neuroendocrine neoplasm skos:exactMatch Orphanet:877 Neuroendocrine neoplasm semapv:UnspecifiedMatching MONDO:0019496 neuroendocrine neoplasm skos:exactMatch SCTID:255046005 semapv:UnspecifiedMatching MONDO:0019496 neuroendocrine neoplasm skos:exactMatch UMLS:C0206754 semapv:UnspecifiedMatching MONDO:0019496 neuroendocrine neoplasm skos:exactMatch mesh:D018358 semapv:UnspecifiedMatching MONDO:0019497 nonsyndromic genetic hearing loss skos:exactMatch DOID:0050563 nonsyndromic deafness semapv:UnspecifiedMatching MONDO:0019497 nonsyndromic genetic hearing loss skos:exactMatch MEDGEN:1830101 semapv:UnspecifiedMatching MONDO:0019497 nonsyndromic genetic hearing loss skos:exactMatch Orphanet:87884 Non-syndromic genetic deafness semapv:UnspecifiedMatching MONDO:0019497 nonsyndromic genetic hearing loss skos:exactMatch UMLS:C5680182 semapv:UnspecifiedMatching MONDO:0019497 nonsyndromic genetic hearing loss skos:exactMatch icd11.foundation:1154032108 Congenital hearing impairment semapv:UnspecifiedMatching MONDO:0019497 nonsyndromic genetic hearing loss skos:exactMatch mesh:C580334 semapv:UnspecifiedMatching MONDO:0019498 tungiasis skos:exactMatch DOID:0050266 tungiasis semapv:UnspecifiedMatching MONDO:0019498 tungiasis skos:exactMatch EFO:1001445 semapv:UnspecifiedMatching MONDO:0019498 tungiasis skos:exactMatch ICD10CM:B88.1 Tungiasis [sandflea infestation] semapv:UnspecifiedMatching MONDO:0019498 tungiasis skos:exactMatch MEDGEN:78823 semapv:UnspecifiedMatching MONDO:0019498 tungiasis skos:exactMatch Orphanet:879 Tungiasis semapv:UnspecifiedMatching MONDO:0019498 tungiasis skos:exactMatch SCTID:64612002 semapv:UnspecifiedMatching MONDO:0019498 tungiasis skos:exactMatch UMLS:C0277356 semapv:UnspecifiedMatching MONDO:0019498 tungiasis skos:exactMatch icd11.foundation:2076748409 Tungiasis semapv:UnspecifiedMatching MONDO:0019498 tungiasis skos:exactMatch mesh:D058285 semapv:UnspecifiedMatching MONDO:0019499 Turner syndrome skos:exactMatch DOID:3491 Turner syndrome semapv:UnspecifiedMatching MONDO:0019499 Turner syndrome skos:exactMatch ICD10CM:Q96.0 Karyotype 45, X semapv:UnspecifiedMatching MONDO:0019499 Turner syndrome skos:exactMatch ICD10WHO:Q96 Turner syndrome semapv:UnspecifiedMatching MONDO:0019499 Turner syndrome skos:exactMatch MEDGEN:21734 semapv:UnspecifiedMatching MONDO:0019499 Turner syndrome skos:exactMatch NCIT:C26900 Turner Syndrome semapv:UnspecifiedMatching MONDO:0019499 Turner syndrome skos:exactMatch Orphanet:881 Turner syndrome semapv:UnspecifiedMatching MONDO:0019499 Turner syndrome skos:exactMatch SCTID:38804009 semapv:UnspecifiedMatching MONDO:0019499 Turner syndrome skos:exactMatch UMLS:C0041408 semapv:UnspecifiedMatching MONDO:0019499 Turner syndrome skos:exactMatch icd11.foundation:1987089698 Turner syndrome semapv:UnspecifiedMatching MONDO:0019499 Turner syndrome skos:exactMatch mesh:D014424 semapv:UnspecifiedMatching MONDO:0019500 extragonadal teratoma skos:exactMatch MEDGEN:1646497 semapv:UnspecifiedMatching MONDO:0019500 extragonadal teratoma skos:exactMatch NCIT:C189045 Extragonadal Teratoma semapv:UnspecifiedMatching MONDO:0019500 extragonadal teratoma skos:exactMatch Orphanet:883 Extragonadal teratoma semapv:UnspecifiedMatching MONDO:0019500 extragonadal teratoma skos:exactMatch SCTID:768937006 semapv:UnspecifiedMatching MONDO:0019500 extragonadal teratoma skos:exactMatch UMLS:C4708601 semapv:UnspecifiedMatching MONDO:0019501 Usher syndrome skos:exactMatch DOID:0050439 Usher syndrome semapv:UnspecifiedMatching MONDO:0019501 Usher syndrome skos:exactMatch NCIT:C85217 Usher Syndrome semapv:UnspecifiedMatching MONDO:0019501 Usher syndrome skos:exactMatch OMIMPS:276900 Usher syndrome semapv:UnspecifiedMatching MONDO:0019501 Usher syndrome skos:exactMatch Orphanet:886 Usher syndrome semapv:UnspecifiedMatching MONDO:0019501 Usher syndrome skos:exactMatch icd11.foundation:1452641873 Usher syndrome semapv:UnspecifiedMatching MONDO:0019501 Usher syndrome skos:exactMatch mesh:D052245 semapv:UnspecifiedMatching MONDO:0019502 autosomal recessive non-syndromic intellectual disability skos:exactMatch DOID:0060308 autosomal recessive intellectual developmental disorder semapv:UnspecifiedMatching MONDO:0019502 autosomal recessive non-syndromic intellectual disability skos:exactMatch MEDGEN:1826073 semapv:UnspecifiedMatching MONDO:0019502 autosomal recessive non-syndromic intellectual disability skos:exactMatch OMIMPS:249500 Intellectual developmental disorder, autosomal recessive semapv:UnspecifiedMatching MONDO:0019502 autosomal recessive non-syndromic intellectual disability skos:exactMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:UnspecifiedMatching MONDO:0019502 autosomal recessive non-syndromic intellectual disability skos:exactMatch UMLS:C5680181 semapv:UnspecifiedMatching MONDO:0019503 anterior segment dysgenesis skos:exactMatch DOID:0060648 anterior segment dysgenesis semapv:UnspecifiedMatching MONDO:0019503 anterior segment dysgenesis skos:exactMatch MEDGEN:350766 semapv:UnspecifiedMatching MONDO:0019503 anterior segment dysgenesis skos:exactMatch OMIMPS:107250 Anterior segment dysgenesis semapv:UnspecifiedMatching MONDO:0019503 anterior segment dysgenesis skos:exactMatch Orphanet:88632 Anterior segment developmental anomaly semapv:UnspecifiedMatching MONDO:0019503 anterior segment dysgenesis skos:exactMatch SCTID:65075004 semapv:UnspecifiedMatching MONDO:0019503 anterior segment dysgenesis skos:exactMatch UMLS:C1862839 semapv:UnspecifiedMatching MONDO:0019503 anterior segment dysgenesis skos:exactMatch icd11.foundation:1182282997 Anterior segment dysgenesis semapv:UnspecifiedMatching MONDO:0019503 anterior segment dysgenesis skos:exactMatch icd11.foundation:943599144 Structural developmental anomalies of the anterior segment of eye semapv:UnspecifiedMatching MONDO:0019504 superior limbic keratoconjunctivitis skos:exactMatch MEDGEN:573037 semapv:UnspecifiedMatching MONDO:0019504 superior limbic keratoconjunctivitis skos:exactMatch Orphanet:88633 Superior limbic keratoconjunctivitis semapv:UnspecifiedMatching MONDO:0019504 superior limbic keratoconjunctivitis skos:exactMatch SCTID:231903005 semapv:UnspecifiedMatching MONDO:0019504 superior limbic keratoconjunctivitis skos:exactMatch UMLS:C0339229 semapv:UnspecifiedMatching MONDO:0019504 superior limbic keratoconjunctivitis skos:exactMatch icd11.foundation:1962803547 Superior Limbal Keratoconjunctivitis semapv:UnspecifiedMatching MONDO:0019505 obsolete hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome skos:exactMatch Orphanet:88637 Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome semapv:UnspecifiedMatching MONDO:0019506 obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome skos:exactMatch MEDGEN:928548 semapv:UnspecifiedMatching MONDO:0019506 obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome skos:exactMatch Orphanet:88643 Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome semapv:UnspecifiedMatching MONDO:0019506 obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome skos:exactMatch SCTID:722051004 semapv:UnspecifiedMatching MONDO:0019506 obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome skos:exactMatch UMLS:C4302879 semapv:UnspecifiedMatching MONDO:0019507 amelogenesis imperfecta skos:exactMatch DOID:2187 amelogenesis imperfecta semapv:UnspecifiedMatching MONDO:0019507 amelogenesis imperfecta skos:exactMatch MEDGEN:240 semapv:UnspecifiedMatching MONDO:0019507 amelogenesis imperfecta skos:exactMatch OMIMPS:104500 Amelogenesis imperfecta semapv:UnspecifiedMatching MONDO:0019507 amelogenesis imperfecta skos:exactMatch Orphanet:88661 Amelogenesis imperfecta semapv:UnspecifiedMatching MONDO:0019507 amelogenesis imperfecta skos:exactMatch SCTID:78494001 semapv:UnspecifiedMatching MONDO:0019507 amelogenesis imperfecta skos:exactMatch UMLS:C0002452 semapv:UnspecifiedMatching MONDO:0019507 amelogenesis imperfecta skos:exactMatch icd11.foundation:1923123066 Amelogenesis imperfecta semapv:UnspecifiedMatching MONDO:0019507 amelogenesis imperfecta skos:exactMatch mesh:D000567 semapv:UnspecifiedMatching MONDO:0019508 van der Woude syndrome skos:exactMatch DOID:0060239 Van der Woude syndrome semapv:UnspecifiedMatching MONDO:0019508 van der Woude syndrome skos:exactMatch MEDGEN:61233 semapv:UnspecifiedMatching MONDO:0019508 van der Woude syndrome skos:exactMatch NCIT:C74986 Van der Woude Syndrome semapv:UnspecifiedMatching MONDO:0019508 van der Woude syndrome skos:exactMatch OMIMPS:119300 van der Woude syndrome semapv:UnspecifiedMatching MONDO:0019508 van der Woude syndrome skos:exactMatch Orphanet:888 Van der Woude syndrome semapv:UnspecifiedMatching MONDO:0019508 van der Woude syndrome skos:exactMatch SCTID:79261008 semapv:UnspecifiedMatching MONDO:0019508 van der Woude syndrome skos:exactMatch UMLS:C0175697 semapv:UnspecifiedMatching MONDO:0019508 van der Woude syndrome skos:exactMatch icd11.foundation:133440037 Van Der Woude syndrome semapv:UnspecifiedMatching MONDO:0019508 van der Woude syndrome skos:exactMatch mesh:C536528 semapv:UnspecifiedMatching MONDO:0019509 cutaneous leukocytoclastic angiitis skos:exactMatch MEDGEN:881641 semapv:UnspecifiedMatching MONDO:0019509 cutaneous leukocytoclastic angiitis skos:exactMatch NCIT:C122919 Cutaneous Small Vessel Vasculitis semapv:UnspecifiedMatching MONDO:0019509 cutaneous leukocytoclastic angiitis skos:exactMatch Orphanet:889 Cutaneous small vessel vasculitis semapv:UnspecifiedMatching MONDO:0019509 cutaneous leukocytoclastic angiitis skos:exactMatch SCTID:718217000 semapv:UnspecifiedMatching MONDO:0019509 cutaneous leukocytoclastic angiitis skos:exactMatch UMLS:C4049638 semapv:UnspecifiedMatching MONDO:0019509 cutaneous leukocytoclastic angiitis skos:exactMatch icd11.foundation:247535295 Cutaneous leukocytoclastic vasculitis semapv:UnspecifiedMatching MONDO:0019509 cutaneous leukocytoclastic angiitis skos:exactMatch icd11.foundation:71458216 Vasculitis affecting small cutaneous blood vessels semapv:UnspecifiedMatching MONDO:0019512 congenital heart malformation skos:exactMatch EFO:0005269 semapv:UnspecifiedMatching MONDO:0019512 congenital heart malformation skos:exactMatch MEDGEN:1680993 semapv:UnspecifiedMatching MONDO:0019512 congenital heart malformation skos:exactMatch Orphanet:88991 Rare congenital non-syndromic heart malformation semapv:UnspecifiedMatching MONDO:0019512 congenital heart malformation skos:exactMatch UMLS:C3649636 semapv:UnspecifiedMatching MONDO:0019513 obsolete esophageal malformation skos:exactMatch Orphanet:88993 Esophageal malformation semapv:UnspecifiedMatching MONDO:0019513 obsolete esophageal malformation skos:exactMatch icd11.foundation:1999264345 Structural developmental anomalies of oesophagus semapv:UnspecifiedMatching MONDO:0019514 hepatic veno-occlusive disease skos:exactMatch DOID:0080177 hepatic veno-occlusive disease semapv:UnspecifiedMatching MONDO:0019514 hepatic veno-occlusive disease skos:exactMatch ICD10CM:K76.5 Hepatic veno-occlusive disease semapv:UnspecifiedMatching MONDO:0019514 hepatic veno-occlusive disease skos:exactMatch MEDGEN:5514 semapv:UnspecifiedMatching MONDO:0019514 hepatic veno-occlusive disease skos:exactMatch NCIT:C26793 Sinusoidal Obstruction Syndrome semapv:UnspecifiedMatching MONDO:0019514 hepatic veno-occlusive disease skos:exactMatch Orphanet:890 Hepatic veno-occlusive disease semapv:UnspecifiedMatching MONDO:0019514 hepatic veno-occlusive disease skos:exactMatch SCTID:65617004 semapv:UnspecifiedMatching MONDO:0019514 hepatic veno-occlusive disease skos:exactMatch UMLS:C0019156 semapv:UnspecifiedMatching MONDO:0019514 hepatic veno-occlusive disease skos:exactMatch icd11.foundation:762044088 Hepatic veno-occlusive disease semapv:UnspecifiedMatching MONDO:0019514 hepatic veno-occlusive disease skos:exactMatch icd11.foundation:901464792 Sinusoidal obstruction syndrome semapv:UnspecifiedMatching MONDO:0019514 hepatic veno-occlusive disease skos:exactMatch mesh:D006504 semapv:UnspecifiedMatching MONDO:0019515 obsolete rare dementia skos:exactMatch Orphanet:89043 Rare dementia semapv:UnspecifiedMatching MONDO:0019516 exudative vitreoretinopathy skos:exactMatch DOID:0050535 exudative vitreoretinopathy semapv:UnspecifiedMatching MONDO:0019516 exudative vitreoretinopathy skos:exactMatch MEDGEN:573220 semapv:UnspecifiedMatching MONDO:0019516 exudative vitreoretinopathy skos:exactMatch OMIMPS:133780 Exudative vitreoretinopathy semapv:UnspecifiedMatching MONDO:0019516 exudative vitreoretinopathy skos:exactMatch Orphanet:891 Familial exudative vitreoretinopathy semapv:UnspecifiedMatching MONDO:0019516 exudative vitreoretinopathy skos:exactMatch SCTID:232063007 semapv:UnspecifiedMatching MONDO:0019516 exudative vitreoretinopathy skos:exactMatch UMLS:C0339539 semapv:UnspecifiedMatching MONDO:0019516 exudative vitreoretinopathy skos:exactMatch mesh:C580083 semapv:UnspecifiedMatching MONDO:0019517 Waardenburg syndrome type 2 skos:exactMatch MEDGEN:398443 semapv:UnspecifiedMatching MONDO:0019517 Waardenburg syndrome type 2 skos:exactMatch NCIT:C75009 Waardenburg Syndrome Type 2 semapv:UnspecifiedMatching MONDO:0019517 Waardenburg syndrome type 2 skos:exactMatch Orphanet:895 Waardenburg syndrome type 2 semapv:UnspecifiedMatching MONDO:0019517 Waardenburg syndrome type 2 skos:exactMatch UMLS:C2700265 semapv:UnspecifiedMatching MONDO:0019517 Waardenburg syndrome type 2 skos:exactMatch icd11.foundation:746815303 Waardenburg syndrome type 2 semapv:UnspecifiedMatching MONDO:0019517 Waardenburg syndrome type 2 skos:exactMatch mesh:C536463 semapv:UnspecifiedMatching MONDO:0019518 Waardenburg-Shah syndrome skos:exactMatch NCIT:C124842 Waardenburg Syndrome Type 4 semapv:UnspecifiedMatching MONDO:0019518 Waardenburg-Shah syndrome skos:exactMatch Orphanet:897 Waardenburg-Shah syndrome semapv:UnspecifiedMatching MONDO:0019518 Waardenburg-Shah syndrome skos:exactMatch icd11.foundation:1420151003 Waardenburg-Shah syndrome semapv:UnspecifiedMatching MONDO:0019519 obsolete rare skin disease skos:exactMatch Orphanet:89826 Rare skin disease semapv:UnspecifiedMatching MONDO:0019520 obsolete syndromic lymphedema skos:exactMatch Orphanet:89832 OBSOLETE: Syndromic lymphedema semapv:UnspecifiedMatching MONDO:0019521 centripetalis recessive dystrophic epidermolysis bullosa skos:exactMatch MEDGEN:1377762 semapv:UnspecifiedMatching MONDO:0019521 centripetalis recessive dystrophic epidermolysis bullosa skos:exactMatch SCTID:725419003 semapv:UnspecifiedMatching MONDO:0019521 centripetalis recessive dystrophic epidermolysis bullosa skos:exactMatch UMLS:C4511056 semapv:UnspecifiedMatching MONDO:0019522 recessive dystrophic epidermolysis bullosa-generalized other skos:exactMatch MEDGEN:1392226 semapv:UnspecifiedMatching MONDO:0019522 recessive dystrophic epidermolysis bullosa-generalized other skos:exactMatch Orphanet:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form semapv:UnspecifiedMatching MONDO:0019522 recessive dystrophic epidermolysis bullosa-generalized other skos:exactMatch UMLS:C4511044 semapv:UnspecifiedMatching MONDO:0019524 Bartter syndrome type 4 skos:exactMatch MEDGEN:824706 semapv:UnspecifiedMatching MONDO:0019524 Bartter syndrome type 4 skos:exactMatch Orphanet:89938 Bartter syndrome type 4 semapv:UnspecifiedMatching MONDO:0019524 Bartter syndrome type 4 skos:exactMatch SCTID:700112007 semapv:UnspecifiedMatching MONDO:0019524 Bartter syndrome type 4 skos:exactMatch UMLS:C3838860 semapv:UnspecifiedMatching MONDO:0019524 Bartter syndrome type 4 skos:exactMatch icd11.foundation:959024909 Bartter syndrome type 4 semapv:UnspecifiedMatching MONDO:0019525 tetrasomy X skos:exactMatch MEDGEN:120544 semapv:UnspecifiedMatching MONDO:0019525 tetrasomy X skos:exactMatch Orphanet:9 Tetrasomy X syndrome semapv:UnspecifiedMatching MONDO:0019525 tetrasomy X skos:exactMatch SCTID:10567003 semapv:UnspecifiedMatching MONDO:0019525 tetrasomy X skos:exactMatch UMLS:C0265496 semapv:UnspecifiedMatching MONDO:0019525 tetrasomy X skos:exactMatch icd11.foundation:1181464236 Tetrasomy X semapv:UnspecifiedMatching MONDO:0019525 tetrasomy X skos:exactMatch mesh:C536502 semapv:UnspecifiedMatching MONDO:0019526 erythema elevatum diutinum skos:exactMatch DOID:0060567 erythema elevatum diutinum semapv:UnspecifiedMatching MONDO:0019526 erythema elevatum diutinum skos:exactMatch ICD10CM:L95.1 Erythema elevatum diutinum semapv:UnspecifiedMatching MONDO:0019526 erythema elevatum diutinum skos:exactMatch MEDGEN:75517 semapv:UnspecifiedMatching MONDO:0019526 erythema elevatum diutinum skos:exactMatch Orphanet:90000 Erythema elevatum diutinum semapv:UnspecifiedMatching MONDO:0019526 erythema elevatum diutinum skos:exactMatch SCTID:58872001 semapv:UnspecifiedMatching MONDO:0019526 erythema elevatum diutinum skos:exactMatch UMLS:C0263398 semapv:UnspecifiedMatching MONDO:0019526 erythema elevatum diutinum skos:exactMatch icd11.foundation:754210950 Erythema elevatum diutinum semapv:UnspecifiedMatching MONDO:0019526 erythema elevatum diutinum skos:exactMatch mesh:C535509 semapv:UnspecifiedMatching MONDO:0019527 undifferentiated connective tissue syndrome skos:exactMatch MEDGEN:592754 semapv:UnspecifiedMatching MONDO:0019527 undifferentiated connective tissue syndrome skos:exactMatch NCIT:C116776 Undifferentiated Connective Tissue Disease semapv:UnspecifiedMatching MONDO:0019527 undifferentiated connective tissue syndrome skos:exactMatch Orphanet:90002 Undifferentiated connective tissue syndrome semapv:UnspecifiedMatching MONDO:0019527 undifferentiated connective tissue syndrome skos:exactMatch SCTID:239918008 semapv:UnspecifiedMatching MONDO:0019527 undifferentiated connective tissue syndrome skos:exactMatch UMLS:C0409999 semapv:UnspecifiedMatching MONDO:0019528 inflammatory pseudotumor of the liver skos:exactMatch Orphanet:90003 Inflammatory pseudotumor of the liver semapv:UnspecifiedMatching MONDO:0019529 radiation myelitis skos:exactMatch MEDGEN:1638362 semapv:UnspecifiedMatching MONDO:0019529 radiation myelitis skos:exactMatch Orphanet:90021 Radiation myelitis semapv:UnspecifiedMatching MONDO:0019529 radiation myelitis skos:exactMatch SCTID:26037005 semapv:UnspecifiedMatching MONDO:0019529 radiation myelitis skos:exactMatch UMLS:C4706614 semapv:UnspecifiedMatching MONDO:0019530 non-syndromic syndactyly skos:exactMatch MEDGEN:1842957 semapv:UnspecifiedMatching MONDO:0019530 non-syndromic syndactyly skos:exactMatch NCIT:C87125 Syndactyly semapv:UnspecifiedMatching MONDO:0019530 non-syndromic syndactyly skos:exactMatch Orphanet:90025 Non-syndromic syndactyly semapv:UnspecifiedMatching MONDO:0019530 non-syndromic syndactyly skos:exactMatch UMLS:C5681365 semapv:UnspecifiedMatching MONDO:0019530 non-syndromic syndactyly skos:exactMatch icd11.foundation:1736296640 Syndactyly semapv:UnspecifiedMatching MONDO:0019531 hemolytic anemia due to glutathione reductase deficiency skos:exactMatch DOID:0051009 congenital nonspherocytic hemolytic anemia 10 semapv:UnspecifiedMatching MONDO:0019531 hemolytic anemia due to glutathione reductase deficiency skos:exactMatch MEDGEN:1684855 semapv:UnspecifiedMatching MONDO:0019531 hemolytic anemia due to glutathione reductase deficiency skos:exactMatch OMIM:618660 anemia, congenital, nonspherocytic hemolytic, 10 semapv:UnspecifiedMatching MONDO:0019531 hemolytic anemia due to glutathione reductase deficiency skos:exactMatch Orphanet:90030 Hemolytic anemia due to glutathione reductase deficiency semapv:UnspecifiedMatching MONDO:0019531 hemolytic anemia due to glutathione reductase deficiency skos:exactMatch UMLS:C5231513 semapv:UnspecifiedMatching MONDO:0019532 autoimmune hemolytic anemia, warm type skos:exactMatch ICD10CM:D59.11 Warm autoimmune hemolytic anemia semapv:UnspecifiedMatching MONDO:0019532 autoimmune hemolytic anemia, warm type skos:exactMatch MEDGEN:450541 semapv:UnspecifiedMatching MONDO:0019532 autoimmune hemolytic anemia, warm type skos:exactMatch NCIT:C162611 Warm Antibody Autoimmune Hemolytic Anemia semapv:UnspecifiedMatching MONDO:0019532 autoimmune hemolytic anemia, warm type skos:exactMatch Orphanet:90033 Autoimmune hemolytic anemia, warm type semapv:UnspecifiedMatching MONDO:0019532 autoimmune hemolytic anemia, warm type skos:exactMatch SCTID:3978000 semapv:UnspecifiedMatching MONDO:0019532 autoimmune hemolytic anemia, warm type skos:exactMatch UMLS:C0272118 semapv:UnspecifiedMatching MONDO:0019532 autoimmune hemolytic anemia, warm type skos:exactMatch icd11.foundation:880772122 Autoimmune haemolytic anaemia, warm type semapv:UnspecifiedMatching MONDO:0019533 paroxysmal cold hemoglobinuria skos:exactMatch MEDGEN:39693 semapv:UnspecifiedMatching MONDO:0019533 paroxysmal cold hemoglobinuria skos:exactMatch Orphanet:90035 Paroxysmal cold hemoglobinuria semapv:UnspecifiedMatching MONDO:0019533 paroxysmal cold hemoglobinuria skos:exactMatch SCTID:127057004 semapv:UnspecifiedMatching MONDO:0019533 paroxysmal cold hemoglobinuria skos:exactMatch UMLS:C0086774 semapv:UnspecifiedMatching MONDO:0019533 paroxysmal cold hemoglobinuria skos:exactMatch icd11.foundation:715111132 Paroxysmal cold haemoglobinuria semapv:UnspecifiedMatching MONDO:0019534 mixed-type autoimmune hemolytic anemia skos:exactMatch MEDGEN:930926 semapv:UnspecifiedMatching MONDO:0019534 mixed-type autoimmune hemolytic anemia skos:exactMatch Orphanet:90036 Mixed-type autoimmune hemolytic anemia semapv:UnspecifiedMatching MONDO:0019534 mixed-type autoimmune hemolytic anemia skos:exactMatch SCTID:718716008 semapv:UnspecifiedMatching MONDO:0019534 mixed-type autoimmune hemolytic anemia skos:exactMatch UMLS:C4305257 semapv:UnspecifiedMatching MONDO:0019534 mixed-type autoimmune hemolytic anemia skos:exactMatch icd11.foundation:1878239449 Autoimmune haemolytic anaemia, mixed type, cold and warm semapv:UnspecifiedMatching MONDO:0019535 drug-induced autoimmune hemolytic anemia skos:exactMatch ICD10CM:D59.0 Drug-induced autoimmune hemolytic anemia semapv:UnspecifiedMatching MONDO:0019535 drug-induced autoimmune hemolytic anemia skos:exactMatch MEDGEN:580980 semapv:UnspecifiedMatching MONDO:0019535 drug-induced autoimmune hemolytic anemia skos:exactMatch Orphanet:90037 Drug-induced autoimmune hemolytic anemia semapv:UnspecifiedMatching MONDO:0019535 drug-induced autoimmune hemolytic anemia skos:exactMatch SCTID:309742004 semapv:UnspecifiedMatching MONDO:0019535 drug-induced autoimmune hemolytic anemia skos:exactMatch UMLS:C0391817 semapv:UnspecifiedMatching MONDO:0019536 Shiga toxin-associated hemolytic uremic syndrome skos:exactMatch MEDGEN:383843 semapv:UnspecifiedMatching MONDO:0019536 Shiga toxin-associated hemolytic uremic syndrome skos:exactMatch Orphanet:90038 Shiga toxin-associated hemolytic uremic syndrome semapv:UnspecifiedMatching MONDO:0019536 Shiga toxin-associated hemolytic uremic syndrome skos:exactMatch UMLS:C1856143 semapv:UnspecifiedMatching MONDO:0019537 hemoglobin D disease skos:exactMatch DOID:5378 hemoglobin D disease semapv:UnspecifiedMatching MONDO:0019537 hemoglobin D disease skos:exactMatch MEDGEN:124416 semapv:UnspecifiedMatching MONDO:0019537 hemoglobin D disease skos:exactMatch NCIT:C35344 Hemoglobin D Disease semapv:UnspecifiedMatching MONDO:0019537 hemoglobin D disease skos:exactMatch Orphanet:90039 Hemoglobin D disease semapv:UnspecifiedMatching MONDO:0019537 hemoglobin D disease skos:exactMatch SCTID:66729008 semapv:UnspecifiedMatching MONDO:0019537 hemoglobin D disease skos:exactMatch UMLS:C0272080 semapv:UnspecifiedMatching MONDO:0019537 hemoglobin D disease skos:exactMatch icd11.foundation:1508363690 Haemoglobin D disease semapv:UnspecifiedMatching MONDO:0019538 Gaisbock syndrome skos:exactMatch DOID:2838 stress polycythemia semapv:UnspecifiedMatching MONDO:0019538 Gaisbock syndrome skos:exactMatch MEDGEN:745735 semapv:UnspecifiedMatching MONDO:0019538 Gaisbock syndrome skos:exactMatch NCIT:C27174 Stress Polycythemia semapv:UnspecifiedMatching MONDO:0019538 Gaisbock syndrome skos:exactMatch Orphanet:90041 Gaisböck syndrome semapv:UnspecifiedMatching MONDO:0019538 Gaisbock syndrome skos:exactMatch SCTID:36874002 semapv:UnspecifiedMatching MONDO:0019538 Gaisbock syndrome skos:exactMatch UMLS:C2242785 semapv:UnspecifiedMatching MONDO:0019538 Gaisbock syndrome skos:exactMatch icd11.foundation:533704171 Gaisbock syndrome semapv:UnspecifiedMatching MONDO:0019540 diffuse alveolar hemorrhage skos:exactMatch MEDGEN:1381751 semapv:UnspecifiedMatching MONDO:0019540 diffuse alveolar hemorrhage skos:exactMatch Orphanet:90060 Diffuse alveolar hemorrhage semapv:UnspecifiedMatching MONDO:0019540 diffuse alveolar hemorrhage skos:exactMatch UMLS:C4476767 semapv:UnspecifiedMatching MONDO:0019541 obsolete non-infectious posterior uveitis skos:exactMatch Orphanet:90061 Non-infectious posterior uveitis semapv:UnspecifiedMatching MONDO:0019541 obsolete non-infectious posterior uveitis skos:exactMatch icd11.foundation:2140734738 Noninfectious posterior uveitis semapv:UnspecifiedMatching MONDO:0019542 acute liver failure skos:exactMatch MEDGEN:58125 semapv:UnspecifiedMatching MONDO:0019542 acute liver failure skos:exactMatch NCIT:C84396 Acute Liver Failure semapv:UnspecifiedMatching MONDO:0019542 acute liver failure skos:exactMatch Orphanet:90062 Acute liver failure semapv:UnspecifiedMatching MONDO:0019542 acute liver failure skos:exactMatch SCTID:197270009 semapv:UnspecifiedMatching MONDO:0019542 acute liver failure skos:exactMatch UMLS:C0162557 semapv:UnspecifiedMatching MONDO:0019542 acute liver failure skos:exactMatch mesh:D017114 semapv:UnspecifiedMatching MONDO:0019543 acquired aneurysmal subarachnoid hemorrhage skos:exactMatch MEDGEN:572642 semapv:UnspecifiedMatching MONDO:0019543 acquired aneurysmal subarachnoid hemorrhage skos:exactMatch Orphanet:90065 Acquired aneurysmal subarachnoid hemorrhage semapv:UnspecifiedMatching MONDO:0019543 acquired aneurysmal subarachnoid hemorrhage skos:exactMatch UMLS:C0338572 semapv:UnspecifiedMatching MONDO:0019543 acquired aneurysmal subarachnoid hemorrhage skos:exactMatch icd11.foundation:958976948 Aneurysmal subarachnoid haemorrhage semapv:UnspecifiedMatching MONDO:0019544 cocaine intoxication skos:exactMatch Orphanet:90068 Cocaine intoxication semapv:UnspecifiedMatching MONDO:0019544 cocaine intoxication skos:exactMatch SCTID:27956007 semapv:UnspecifiedMatching MONDO:0019544 cocaine intoxication skos:exactMatch icd11.foundation:1965837313 Cocaine intoxication semapv:UnspecifiedMatching MONDO:0019545 systemic monochloroacetate poisoning skos:exactMatch Orphanet:90069 Systemic monochloroacetate poisoning semapv:UnspecifiedMatching MONDO:0019546 obsolete other acquired skin disease skos:exactMatch Orphanet:90077 Other acquired skin disease semapv:UnspecifiedMatching MONDO:0019547 Wells syndrome skos:exactMatch ICD10CM:L98.3 Eosinophilic cellulitis [Wells] semapv:UnspecifiedMatching MONDO:0019547 Wells syndrome skos:exactMatch MEDGEN:91008 semapv:UnspecifiedMatching MONDO:0019547 Wells syndrome skos:exactMatch Orphanet:901 Wells syndrome semapv:UnspecifiedMatching MONDO:0019547 Wells syndrome skos:exactMatch SCTID:238931006 semapv:UnspecifiedMatching MONDO:0019547 Wells syndrome skos:exactMatch UMLS:C0343101 semapv:UnspecifiedMatching MONDO:0019547 Wells syndrome skos:exactMatch icd11.foundation:1860796142 Eosinophilic cellulitis semapv:UnspecifiedMatching MONDO:0019547 Wells syndrome skos:exactMatch mesh:C536693 semapv:UnspecifiedMatching MONDO:0019548 autosomal dominant intermediate Charcot-Marie-Tooth disease skos:exactMatch MEDGEN:1826161 semapv:UnspecifiedMatching MONDO:0019548 autosomal dominant intermediate Charcot-Marie-Tooth disease skos:exactMatch Orphanet:90114 Autosomal dominant intermediate Charcot-Marie-Tooth disease semapv:UnspecifiedMatching MONDO:0019548 autosomal dominant intermediate Charcot-Marie-Tooth disease skos:exactMatch UMLS:C5680178 semapv:UnspecifiedMatching MONDO:0019549 severe early-onset axonal neuropathy due to MFN2 deficiency skos:exactMatch MEDGEN:1641956 semapv:UnspecifiedMatching MONDO:0019549 severe early-onset axonal neuropathy due to MFN2 deficiency skos:exactMatch Orphanet:90118 Severe early-onset axonal neuropathy due to MFN2 deficiency semapv:UnspecifiedMatching MONDO:0019549 severe early-onset axonal neuropathy due to MFN2 deficiency skos:exactMatch SCTID:766977007 semapv:UnspecifiedMatching MONDO:0019549 severe early-onset axonal neuropathy due to MFN2 deficiency skos:exactMatch UMLS:C4707897 semapv:UnspecifiedMatching MONDO:0019550 hereditary motor and sensory neuropathy with acrodystrophy skos:exactMatch MEDGEN:1669448 semapv:UnspecifiedMatching MONDO:0019550 hereditary motor and sensory neuropathy with acrodystrophy skos:exactMatch Orphanet:90119 Hereditary motor and sensory neuropathy with acrodystrophy semapv:UnspecifiedMatching MONDO:0019550 hereditary motor and sensory neuropathy with acrodystrophy skos:exactMatch UMLS:C4749729 semapv:UnspecifiedMatching MONDO:0019551 hereditary motor and sensory neuropathy type 6 skos:exactMatch DOID:0080068 Charcot-Marie-Tooth disease type 6 semapv:UnspecifiedMatching MONDO:0019551 hereditary motor and sensory neuropathy type 6 skos:exactMatch MEDGEN:140747 semapv:UnspecifiedMatching MONDO:0019551 hereditary motor and sensory neuropathy type 6 skos:exactMatch Orphanet:90120 Hereditary motor and sensory neuropathy type 6 semapv:UnspecifiedMatching MONDO:0019551 hereditary motor and sensory neuropathy type 6 skos:exactMatch UMLS:C0393807 semapv:UnspecifiedMatching MONDO:0019551 hereditary motor and sensory neuropathy type 6 skos:exactMatch icd11.foundation:467894833 Hereditary motor and sensory neuropathy type 6 semapv:UnspecifiedMatching MONDO:0019552 centrifugal lipodystrophy skos:exactMatch MEDGEN:590539 semapv:UnspecifiedMatching MONDO:0019552 centrifugal lipodystrophy skos:exactMatch Orphanet:90156 Centrifugal lipodystrophy semapv:UnspecifiedMatching MONDO:0019552 centrifugal lipodystrophy skos:exactMatch UMLS:C0406605 semapv:UnspecifiedMatching MONDO:0019552 centrifugal lipodystrophy skos:exactMatch icd11.foundation:1561732835 Centrifugal lipodystrophy semapv:UnspecifiedMatching MONDO:0019553 drug-induced localized lipodystrophy skos:exactMatch MEDGEN:698295 semapv:UnspecifiedMatching MONDO:0019553 drug-induced localized lipodystrophy skos:exactMatch Orphanet:90157 Drug-induced localized lipodystrophy semapv:UnspecifiedMatching MONDO:0019553 drug-induced localized lipodystrophy skos:exactMatch SCTID:403661001 semapv:UnspecifiedMatching MONDO:0019553 drug-induced localized lipodystrophy skos:exactMatch UMLS:C1274983 semapv:UnspecifiedMatching MONDO:0019554 idiopathic localized lipodystrophy skos:exactMatch MEDGEN:633314 semapv:UnspecifiedMatching MONDO:0019554 idiopathic localized lipodystrophy skos:exactMatch Orphanet:90158 Idiopathic localized lipodystrophy semapv:UnspecifiedMatching MONDO:0019554 idiopathic localized lipodystrophy skos:exactMatch UMLS:C0473566 semapv:UnspecifiedMatching MONDO:0019555 panniculitis and localized lipodystrophy skos:exactMatch MEDGEN:1678538 semapv:UnspecifiedMatching MONDO:0019555 panniculitis and localized lipodystrophy skos:exactMatch Orphanet:90159 Panniculitis-induced localized lipodystrophy semapv:UnspecifiedMatching MONDO:0019555 panniculitis and localized lipodystrophy skos:exactMatch UMLS:C5190785 semapv:UnspecifiedMatching MONDO:0019556 pressure-induced localized lipoatrophy skos:exactMatch MEDGEN:687584 semapv:UnspecifiedMatching MONDO:0019556 pressure-induced localized lipoatrophy skos:exactMatch Orphanet:90160 Pressure-induced localized lipoatrophy semapv:UnspecifiedMatching MONDO:0019556 pressure-induced localized lipoatrophy skos:exactMatch SCTID:238898001 semapv:UnspecifiedMatching MONDO:0019556 pressure-induced localized lipoatrophy skos:exactMatch UMLS:C1260961 semapv:UnspecifiedMatching MONDO:0019557 chilblain lupus skos:exactMatch DOID:0060386 Chilblain lupus semapv:UnspecifiedMatching MONDO:0019557 chilblain lupus skos:exactMatch MEDGEN:1632142 semapv:UnspecifiedMatching MONDO:0019557 chilblain lupus skos:exactMatch Orphanet:90280 Chilblain lupus semapv:UnspecifiedMatching MONDO:0019557 chilblain lupus skos:exactMatch UMLS:C4551515 semapv:UnspecifiedMatching MONDO:0019558 discoid lupus erythematosus skos:exactMatch ICD10CM:L93.0 Discoid lupus erythematosus semapv:UnspecifiedMatching MONDO:0019558 discoid lupus erythematosus skos:exactMatch MEDGEN:1811126 semapv:UnspecifiedMatching MONDO:0019558 discoid lupus erythematosus skos:exactMatch NCIT:C26820 Discoid Lupus Erythematosus semapv:UnspecifiedMatching MONDO:0019558 discoid lupus erythematosus skos:exactMatch Orphanet:90281 Discoid lupus erythematosus semapv:UnspecifiedMatching MONDO:0019558 discoid lupus erythematosus skos:exactMatch SCTID:200938002 semapv:UnspecifiedMatching MONDO:0019558 discoid lupus erythematosus skos:exactMatch UMLS:C5574816 semapv:UnspecifiedMatching MONDO:0019558 discoid lupus erythematosus skos:exactMatch icd11.foundation:2144907708 Discoid lupus erythematosus semapv:UnspecifiedMatching MONDO:0019558 discoid lupus erythematosus skos:exactMatch mesh:D008179 semapv:UnspecifiedMatching MONDO:0019559 hypertrophic or verrucous lupus erythematosus skos:exactMatch MEDGEN:698156 semapv:UnspecifiedMatching MONDO:0019559 hypertrophic or verrucous lupus erythematosus skos:exactMatch Orphanet:90282 Hypertrophic or verrucous lupus erythematosus semapv:UnspecifiedMatching MONDO:0019559 hypertrophic or verrucous lupus erythematosus skos:exactMatch UMLS:C1274838 semapv:UnspecifiedMatching MONDO:0019560 lupus erythematosus tumidus skos:exactMatch MEDGEN:590566 semapv:UnspecifiedMatching MONDO:0019560 lupus erythematosus tumidus skos:exactMatch NCIT:C117112 Lupus Erythematosus Tumidus semapv:UnspecifiedMatching MONDO:0019560 lupus erythematosus tumidus skos:exactMatch Orphanet:90283 Lupus erythematosus tumidus semapv:UnspecifiedMatching MONDO:0019560 lupus erythematosus tumidus skos:exactMatch SCTID:200941006 semapv:UnspecifiedMatching MONDO:0019560 lupus erythematosus tumidus skos:exactMatch UMLS:C0406636 semapv:UnspecifiedMatching MONDO:0019560 lupus erythematosus tumidus skos:exactMatch icd11.foundation:153320433 Lupus erythematosus tumidus semapv:UnspecifiedMatching MONDO:0019561 lupus erythematosus panniculitis skos:exactMatch MEDGEN:14589 semapv:UnspecifiedMatching MONDO:0019561 lupus erythematosus panniculitis skos:exactMatch NCIT:C82884 Lupus Panniculitis semapv:UnspecifiedMatching MONDO:0019561 lupus erythematosus panniculitis skos:exactMatch Orphanet:90285 Lupus erythematosus panniculitis semapv:UnspecifiedMatching MONDO:0019561 lupus erythematosus panniculitis skos:exactMatch SCTID:15084002 semapv:UnspecifiedMatching MONDO:0019561 lupus erythematosus panniculitis skos:exactMatch UMLS:C0030327 semapv:UnspecifiedMatching MONDO:0019561 lupus erythematosus panniculitis skos:exactMatch mesh:D015435 semapv:UnspecifiedMatching MONDO:0019562 localized scleroderma skos:exactMatch DOID:8472 localized scleroderma semapv:UnspecifiedMatching MONDO:0019562 localized scleroderma skos:exactMatch EFO:1001361 semapv:UnspecifiedMatching MONDO:0019562 localized scleroderma skos:exactMatch ICD10CM:L94.0 Localized scleroderma [morphea] semapv:UnspecifiedMatching MONDO:0019562 localized scleroderma skos:exactMatch MEDGEN:48586 semapv:UnspecifiedMatching MONDO:0019562 localized scleroderma skos:exactMatch NCIT:C72069 Localized Scleroderma semapv:UnspecifiedMatching MONDO:0019562 localized scleroderma skos:exactMatch Orphanet:90289 Localized scleroderma semapv:UnspecifiedMatching MONDO:0019562 localized scleroderma skos:exactMatch SCTID:201048007 semapv:UnspecifiedMatching MONDO:0019562 localized scleroderma skos:exactMatch UMLS:C0036420 semapv:UnspecifiedMatching MONDO:0019562 localized scleroderma skos:exactMatch icd11.foundation:1430740369 Plaque morphoea semapv:UnspecifiedMatching MONDO:0019562 localized scleroderma skos:exactMatch mesh:D012594 semapv:UnspecifiedMatching MONDO:0019563 CREST syndrome skos:exactMatch DOID:0060218 CREST syndrome semapv:UnspecifiedMatching MONDO:0019563 CREST syndrome skos:exactMatch MEDGEN:60083 semapv:UnspecifiedMatching MONDO:0019563 CREST syndrome skos:exactMatch NCIT:C70646 CREST Syndrome semapv:UnspecifiedMatching MONDO:0019563 CREST syndrome skos:exactMatch SCTID:31848007 semapv:UnspecifiedMatching MONDO:0019563 CREST syndrome skos:exactMatch UMLS:C0206138 semapv:UnspecifiedMatching MONDO:0019563 CREST syndrome skos:exactMatch mesh:D017675 semapv:UnspecifiedMatching MONDO:0019565 hereditary von Willebrand disease skos:exactMatch DOID:12531 von Willebrand's disease semapv:UnspecifiedMatching MONDO:0019565 hereditary von Willebrand disease skos:exactMatch MEDGEN:1814986 semapv:UnspecifiedMatching MONDO:0019565 hereditary von Willebrand disease skos:exactMatch Orphanet:903 Von Willebrand disease semapv:UnspecifiedMatching MONDO:0019565 hereditary von Willebrand disease skos:exactMatch SCTID:234446004 semapv:UnspecifiedMatching MONDO:0019565 hereditary von Willebrand disease skos:exactMatch UMLS:C5703318 semapv:UnspecifiedMatching MONDO:0019565 hereditary von Willebrand disease skos:exactMatch icd11.foundation:2112021600 Von Willebrand disease semapv:UnspecifiedMatching MONDO:0019565 hereditary von Willebrand disease skos:exactMatch mesh:C531844 semapv:UnspecifiedMatching MONDO:0019567 Ehlers-Danlos syndrome, classic type, 1 skos:exactMatch DOID:14720 Ehlers-Danlos syndrome classic type 1 semapv:UnspecifiedMatching MONDO:0019567 Ehlers-Danlos syndrome, classic type, 1 skos:exactMatch MEDGEN:78660 semapv:UnspecifiedMatching MONDO:0019567 Ehlers-Danlos syndrome, classic type, 1 skos:exactMatch NCIT:C125696 Ehlers-Danlos Syndrome, Type I semapv:UnspecifiedMatching MONDO:0019567 Ehlers-Danlos syndrome, classic type, 1 skos:exactMatch OMIM:130000 ehlers-danlos syndrome, classic type, 1 semapv:UnspecifiedMatching MONDO:0019567 Ehlers-Danlos syndrome, classic type, 1 skos:exactMatch SCTID:83470009 semapv:UnspecifiedMatching MONDO:0019567 Ehlers-Danlos syndrome, classic type, 1 skos:exactMatch UMLS:C0268335 semapv:UnspecifiedMatching MONDO:0019567 Ehlers-Danlos syndrome, classic type, 1 skos:exactMatch mesh:C536194 semapv:UnspecifiedMatching MONDO:0019568 Ehlers-Danlos syndrome, classic type, 2 skos:exactMatch DOID:0080726 Ehlers-Danlos syndrome classic type 2 semapv:UnspecifiedMatching MONDO:0019568 Ehlers-Danlos syndrome, classic type, 2 skos:exactMatch MEDGEN:120628 semapv:UnspecifiedMatching MONDO:0019568 Ehlers-Danlos syndrome, classic type, 2 skos:exactMatch NCIT:C125697 Ehlers-Danlos Syndrome, Type II semapv:UnspecifiedMatching MONDO:0019568 Ehlers-Danlos syndrome, classic type, 2 skos:exactMatch OMIM:130010 ehlers-danlos syndrome, classic type, 2 semapv:UnspecifiedMatching MONDO:0019568 Ehlers-Danlos syndrome, classic type, 2 skos:exactMatch UMLS:C0268336 semapv:UnspecifiedMatching MONDO:0019568 Ehlers-Danlos syndrome, classic type, 2 skos:exactMatch mesh:C536195 semapv:UnspecifiedMatching MONDO:0019569 Cockayne syndrome type 1 skos:exactMatch DOID:0080907 Cockayne syndrome A semapv:UnspecifiedMatching MONDO:0019569 Cockayne syndrome type 1 skos:exactMatch MEDGEN:155488 semapv:UnspecifiedMatching MONDO:0019569 Cockayne syndrome type 1 skos:exactMatch NCIT:C135725 Cockayne Syndrome Type A semapv:UnspecifiedMatching MONDO:0019569 Cockayne syndrome type 1 skos:exactMatch OMIM:216400 Cockayne syndrome a semapv:UnspecifiedMatching MONDO:0019569 Cockayne syndrome type 1 skos:exactMatch Orphanet:90321 Cockayne syndrome type 1 semapv:UnspecifiedMatching MONDO:0019569 Cockayne syndrome type 1 skos:exactMatch UMLS:C0751039 semapv:UnspecifiedMatching MONDO:0019569 Cockayne syndrome type 1 skos:exactMatch icd11.foundation:1271368066 Cockayne syndrome type 1 semapv:UnspecifiedMatching MONDO:0019570 Cockayne syndrome type 2 skos:exactMatch DOID:0080908 Cockayne syndrome B semapv:UnspecifiedMatching MONDO:0019570 Cockayne syndrome type 2 skos:exactMatch MEDGEN:155487 semapv:UnspecifiedMatching MONDO:0019570 Cockayne syndrome type 2 skos:exactMatch NCIT:C135726 Cockayne Syndrome Type B semapv:UnspecifiedMatching MONDO:0019570 Cockayne syndrome type 2 skos:exactMatch OMIM:133540 Cockayne syndrome B semapv:UnspecifiedMatching MONDO:0019570 Cockayne syndrome type 2 skos:exactMatch Orphanet:90322 Cockayne syndrome type 2 semapv:UnspecifiedMatching MONDO:0019570 Cockayne syndrome type 2 skos:exactMatch UMLS:C0751038 semapv:UnspecifiedMatching MONDO:0019570 Cockayne syndrome type 2 skos:exactMatch icd11.foundation:1604701958 Cockayne syndrome type 2 semapv:UnspecifiedMatching MONDO:0019571 autosomal dominant cutis laxa skos:exactMatch DOID:0070142 autosomal dominant cutis laxa semapv:UnspecifiedMatching MONDO:0019571 autosomal dominant cutis laxa skos:exactMatch MEDGEN:120630 semapv:UnspecifiedMatching MONDO:0019571 autosomal dominant cutis laxa skos:exactMatch Orphanet:90348 Autosomal dominant cutis laxa semapv:UnspecifiedMatching MONDO:0019571 autosomal dominant cutis laxa skos:exactMatch SCTID:111388003 semapv:UnspecifiedMatching MONDO:0019571 autosomal dominant cutis laxa skos:exactMatch UMLS:C0268350 semapv:UnspecifiedMatching MONDO:0019571 autosomal dominant cutis laxa skos:exactMatch icd11.foundation:720393698 Autosomal dominant cutis laxa semapv:UnspecifiedMatching MONDO:0019571 autosomal dominant cutis laxa skos:exactMatch mesh:C562627 semapv:UnspecifiedMatching MONDO:0019572 autosomal recessive cutis laxa type 1 skos:exactMatch DOID:0070144 autosomal recessive cutis laxa type I semapv:UnspecifiedMatching MONDO:0019572 autosomal recessive cutis laxa type 1 skos:exactMatch MEDGEN:78663 semapv:UnspecifiedMatching MONDO:0019572 autosomal recessive cutis laxa type 1 skos:exactMatch Orphanet:90349 Autosomal recessive cutis laxa type 1 semapv:UnspecifiedMatching MONDO:0019572 autosomal recessive cutis laxa type 1 skos:exactMatch SCTID:254222002 semapv:UnspecifiedMatching MONDO:0019572 autosomal recessive cutis laxa type 1 skos:exactMatch UMLS:C0268351 semapv:UnspecifiedMatching MONDO:0019572 autosomal recessive cutis laxa type 1 skos:exactMatch mesh:C536225 semapv:UnspecifiedMatching MONDO:0019573 autosomal recessive cutis laxa type 2 skos:exactMatch MEDGEN:609467 semapv:UnspecifiedMatching MONDO:0019573 autosomal recessive cutis laxa type 2 skos:exactMatch Orphanet:90350 Autosomal recessive cutis laxa type 2 semapv:UnspecifiedMatching MONDO:0019573 autosomal recessive cutis laxa type 2 skos:exactMatch UMLS:C0432337 semapv:UnspecifiedMatching MONDO:0019574 secondary intestinal lymphangiectasia skos:exactMatch MEDGEN:908114 semapv:UnspecifiedMatching MONDO:0019574 secondary intestinal lymphangiectasia skos:exactMatch Orphanet:90363 Secondary intestinal lymphangiectasia semapv:UnspecifiedMatching MONDO:0019574 secondary intestinal lymphangiectasia skos:exactMatch SCTID:717255008 semapv:UnspecifiedMatching MONDO:0019574 secondary intestinal lymphangiectasia skos:exactMatch UMLS:C4273969 semapv:UnspecifiedMatching MONDO:0019574 secondary intestinal lymphangiectasia skos:exactMatch icd11.foundation:1730894033 Secondary intestinal lymphangiectasia semapv:UnspecifiedMatching MONDO:0019575 hypotrichosis simplex of the scalp skos:exactMatch Orphanet:90368 Hypotrichosis simplex of the scalp semapv:UnspecifiedMatching MONDO:0019575 hypotrichosis simplex of the scalp skos:exactMatch SCTID:717256009 semapv:UnspecifiedMatching MONDO:0019576 telangiectasia macularis eruptiva perstans skos:exactMatch MEDGEN:78094 semapv:UnspecifiedMatching MONDO:0019576 telangiectasia macularis eruptiva perstans skos:exactMatch Orphanet:90389 Telangiectasia macularis eruptiva perstans semapv:UnspecifiedMatching MONDO:0019576 telangiectasia macularis eruptiva perstans skos:exactMatch SCTID:8214000 semapv:UnspecifiedMatching MONDO:0019576 telangiectasia macularis eruptiva perstans skos:exactMatch UMLS:C0263402 semapv:UnspecifiedMatching MONDO:0019576 telangiectasia macularis eruptiva perstans skos:exactMatch icd11.foundation:444226072 Telangiectasia macularis eruptiva perstans semapv:UnspecifiedMatching MONDO:0019577 anonychia-onychodystrophy syndrome skos:exactMatch MEDGEN:350767 semapv:UnspecifiedMatching MONDO:0019577 anonychia-onychodystrophy syndrome skos:exactMatch Orphanet:90390 Anonychia-onychodystrophy syndrome semapv:UnspecifiedMatching MONDO:0019577 anonychia-onychodystrophy syndrome skos:exactMatch UMLS:C1862840 semapv:UnspecifiedMatching MONDO:0019577 anonychia-onychodystrophy syndrome skos:exactMatch mesh:C536378 semapv:UnspecifiedMatching MONDO:0019578 nodular lichen myxedematosus skos:exactMatch MEDGEN:894327 semapv:UnspecifiedMatching MONDO:0019578 nodular lichen myxedematosus skos:exactMatch Orphanet:90393 Nodular lichen myxedematosus semapv:UnspecifiedMatching MONDO:0019578 nodular lichen myxedematosus skos:exactMatch SCTID:717257000 semapv:UnspecifiedMatching MONDO:0019578 nodular lichen myxedematosus skos:exactMatch UMLS:C4273968 semapv:UnspecifiedMatching MONDO:0019579 discrete papular lichen myxedematosus skos:exactMatch MEDGEN:898313 semapv:UnspecifiedMatching MONDO:0019579 discrete papular lichen myxedematosus skos:exactMatch Orphanet:90394 Discrete papular lichen myxedematosus semapv:UnspecifiedMatching MONDO:0019579 discrete papular lichen myxedematosus skos:exactMatch SCTID:717258005 semapv:UnspecifiedMatching MONDO:0019579 discrete papular lichen myxedematosus skos:exactMatch UMLS:C4273967 semapv:UnspecifiedMatching MONDO:0019580 papular mucinosis of infancy skos:exactMatch MEDGEN:909529 semapv:UnspecifiedMatching MONDO:0019580 papular mucinosis of infancy skos:exactMatch Orphanet:90395 Papular mucinosis of infancy semapv:UnspecifiedMatching MONDO:0019580 papular mucinosis of infancy skos:exactMatch SCTID:717259002 semapv:UnspecifiedMatching MONDO:0019580 papular mucinosis of infancy skos:exactMatch UMLS:C4273966 semapv:UnspecifiedMatching MONDO:0019581 acral persistent papular mucinosis skos:exactMatch MEDGEN:590586 semapv:UnspecifiedMatching MONDO:0019581 acral persistent papular mucinosis skos:exactMatch Orphanet:90396 Acral persistent papular mucinosis semapv:UnspecifiedMatching MONDO:0019581 acral persistent papular mucinosis skos:exactMatch SCTID:238949006 semapv:UnspecifiedMatching MONDO:0019581 acral persistent papular mucinosis skos:exactMatch UMLS:C0406660 semapv:UnspecifiedMatching MONDO:0019581 acral persistent papular mucinosis skos:exactMatch icd11.foundation:712202928 Acral persistent papular mucinosis semapv:UnspecifiedMatching MONDO:0019582 self-healing papular mucinosis skos:exactMatch MEDGEN:590583 semapv:UnspecifiedMatching MONDO:0019582 self-healing papular mucinosis skos:exactMatch Orphanet:90397 Self-healing papular mucinosis semapv:UnspecifiedMatching MONDO:0019582 self-healing papular mucinosis skos:exactMatch UMLS:C0406657 semapv:UnspecifiedMatching MONDO:0019583 localized lichen myxedematosus with mixed features of different subtypes skos:exactMatch MEDGEN:1843441 semapv:UnspecifiedMatching MONDO:0019583 localized lichen myxedematosus with mixed features of different subtypes skos:exactMatch Orphanet:90398 Localized lichen myxedematosus with mixed features of different subtypes semapv:UnspecifiedMatching MONDO:0019583 localized lichen myxedematosus with mixed features of different subtypes skos:exactMatch UMLS:C5681465 semapv:UnspecifiedMatching MONDO:0019584 localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms skos:exactMatch MEDGEN:1843442 semapv:UnspecifiedMatching MONDO:0019584 localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms skos:exactMatch Orphanet:90399 Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms semapv:UnspecifiedMatching MONDO:0019584 localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms skos:exactMatch UMLS:C5681466 semapv:UnspecifiedMatching MONDO:0019585 scleromyxedema without monoclonal gammopathy skos:exactMatch MEDGEN:1843341 semapv:UnspecifiedMatching MONDO:0019585 scleromyxedema without monoclonal gammopathy skos:exactMatch Orphanet:90400 Scleromyxedema without monoclonal gammopathy semapv:UnspecifiedMatching MONDO:0019585 scleromyxedema without monoclonal gammopathy skos:exactMatch UMLS:C5681463 semapv:UnspecifiedMatching MONDO:0019586 X-linked nonsyndromic hearing loss skos:exactMatch DOID:0050566 X-linked nonsyndromic deafness semapv:UnspecifiedMatching MONDO:0019586 X-linked nonsyndromic hearing loss skos:exactMatch MEDGEN:1825990 semapv:UnspecifiedMatching MONDO:0019586 X-linked nonsyndromic hearing loss skos:exactMatch Orphanet:90625 Rare X-linked non-syndromic sensorineural deafness type DFN semapv:UnspecifiedMatching MONDO:0019586 X-linked nonsyndromic hearing loss skos:exactMatch UMLS:C5680192 semapv:UnspecifiedMatching MONDO:0019587 autosomal dominant nonsyndromic hearing loss skos:exactMatch DOID:0050564 autosomal dominant nonsyndromic deafness semapv:UnspecifiedMatching MONDO:0019587 autosomal dominant nonsyndromic hearing loss skos:exactMatch MEDGEN:1843285 semapv:UnspecifiedMatching MONDO:0019587 autosomal dominant nonsyndromic hearing loss skos:exactMatch OMIMPS:124900 Deafness, autosomal dominant semapv:UnspecifiedMatching MONDO:0019587 autosomal dominant nonsyndromic hearing loss skos:exactMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:UnspecifiedMatching MONDO:0019587 autosomal dominant nonsyndromic hearing loss skos:exactMatch UMLS:C5779548 semapv:UnspecifiedMatching MONDO:0019588 hearing loss, autosomal recessive skos:exactMatch DOID:0050565 autosomal recessive nonsyndromic deafness semapv:UnspecifiedMatching MONDO:0019588 hearing loss, autosomal recessive skos:exactMatch MEDGEN:337623 semapv:UnspecifiedMatching MONDO:0019588 hearing loss, autosomal recessive skos:exactMatch OMIM:607197 deafness, autosomal recessive semapv:UnspecifiedMatching MONDO:0019588 hearing loss, autosomal recessive skos:exactMatch OMIMPS:220290 Deafness, autosomal recessive semapv:UnspecifiedMatching MONDO:0019588 hearing loss, autosomal recessive skos:exactMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:UnspecifiedMatching MONDO:0019588 hearing loss, autosomal recessive skos:exactMatch UMLS:C1846647 semapv:UnspecifiedMatching MONDO:0019588 hearing loss, autosomal recessive skos:exactMatch mesh:C564609 semapv:UnspecifiedMatching MONDO:0019589 obsolete syndromic genetic hearing loss skos:exactMatch Orphanet:90642 Syndromic genetic deafness semapv:UnspecifiedMatching MONDO:0019589 obsolete syndromic genetic hearing loss skos:exactMatch SCTID:232333009 semapv:UnspecifiedMatching MONDO:0019589 obsolete syndromic genetic hearing loss skos:exactMatch icd11.foundation:186534168 Syndromic genetic deafness semapv:UnspecifiedMatching MONDO:0019590 obsolete rare endocrine growth disease skos:exactMatch Orphanet:90692 Rare endocrine growth disease semapv:UnspecifiedMatching MONDO:0019591 panhypopituitarism skos:exactMatch DOID:9410 combined pituitary hormone deficiency semapv:UnspecifiedMatching MONDO:0019591 panhypopituitarism skos:exactMatch MEDGEN:69171 semapv:UnspecifiedMatching MONDO:0019591 panhypopituitarism skos:exactMatch NCIT:C110940 Panhypopituitarism semapv:UnspecifiedMatching MONDO:0019591 panhypopituitarism skos:exactMatch Orphanet:90695 Non-acquired panhypopituitarism semapv:UnspecifiedMatching MONDO:0019591 panhypopituitarism skos:exactMatch SCTID:32390006 semapv:UnspecifiedMatching MONDO:0019591 panhypopituitarism skos:exactMatch UMLS:C0242343 semapv:UnspecifiedMatching MONDO:0019591 panhypopituitarism skos:exactMatch icd11.foundation:1576287890 Panhypopituitarism semapv:UnspecifiedMatching MONDO:0019593 obsolete 46,XX disorder of sex development induced by fetal androgens excess skos:exactMatch Orphanet:90776 46,XX difference of sex development induced by fetal androgens excess semapv:UnspecifiedMatching MONDO:0019594 obsolete 46,XY disorder of sex development due to a testosterone synthesis defect skos:exactMatch Orphanet:90783 46,XY difference of sex development due to a testosterone synthesis defect semapv:UnspecifiedMatching MONDO:0019595 obsolete 46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect skos:exactMatch Orphanet:90786 46,XY difference of sex development due to adrenal and testicular steroidogenesis defect semapv:UnspecifiedMatching MONDO:0019596 obsolete 46,XY disorder of sex development due to testicular steroidogenesis defect skos:exactMatch Orphanet:90787 46,XY difference of sex development due to testicular steroidogenesis defect semapv:UnspecifiedMatching MONDO:0019599 obsolete primary lipodystrophy skos:exactMatch Orphanet:90970 Primary lipodystrophy semapv:UnspecifiedMatching MONDO:0019600 xeroderma pigmentosum skos:exactMatch DOID:0050427 xeroderma pigmentosum semapv:UnspecifiedMatching MONDO:0019600 xeroderma pigmentosum skos:exactMatch ICD10CM:Q82.1 Xeroderma pigmentosum semapv:UnspecifiedMatching MONDO:0019600 xeroderma pigmentosum skos:exactMatch MEDGEN:21943 semapv:UnspecifiedMatching MONDO:0019600 xeroderma pigmentosum skos:exactMatch NCIT:C3452 Xeroderma Pigmentosum semapv:UnspecifiedMatching MONDO:0019600 xeroderma pigmentosum skos:exactMatch OMIMPS:278700 Xeroderma pigmentosum semapv:UnspecifiedMatching MONDO:0019600 xeroderma pigmentosum skos:exactMatch Orphanet:910 Xeroderma pigmentosum semapv:UnspecifiedMatching MONDO:0019600 xeroderma pigmentosum skos:exactMatch SCTID:44600005 semapv:UnspecifiedMatching MONDO:0019600 xeroderma pigmentosum skos:exactMatch UMLS:C0043346 semapv:UnspecifiedMatching MONDO:0019600 xeroderma pigmentosum skos:exactMatch icd11.foundation:1243068849 Xeroderma pigmentosum semapv:UnspecifiedMatching MONDO:0019600 xeroderma pigmentosum skos:exactMatch mesh:D014983 semapv:UnspecifiedMatching MONDO:0019601 obsolete autosomal recessive axonal hereditary motor and sensory neuropathy skos:exactMatch Orphanet:91024 Autosomal recessive axonal hereditary motor and sensory neuropathy semapv:UnspecifiedMatching MONDO:0019602 obsolete other inborn metabolic disease skos:exactMatch Orphanet:91088 Other metabolic disease semapv:UnspecifiedMatching MONDO:0019603 osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome skos:exactMatch MEDGEN:928492 semapv:UnspecifiedMatching MONDO:0019603 osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome skos:exactMatch SCTID:722111004 semapv:UnspecifiedMatching MONDO:0019603 osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome skos:exactMatch UMLS:C4302823 semapv:UnspecifiedMatching MONDO:0019604 acquired monoclonal Ig light chain-associated Fanconi syndrome skos:exactMatch MEDGEN:1375627 semapv:UnspecifiedMatching MONDO:0019604 acquired monoclonal Ig light chain-associated Fanconi syndrome skos:exactMatch Orphanet:91136 Acquired monoclonal Ig light chain-associated Fanconi syndrome semapv:UnspecifiedMatching MONDO:0019604 acquired monoclonal Ig light chain-associated Fanconi syndrome skos:exactMatch SCTID:724099000 semapv:UnspecifiedMatching MONDO:0019604 acquired monoclonal Ig light chain-associated Fanconi syndrome skos:exactMatch UMLS:C4510369 semapv:UnspecifiedMatching MONDO:0019605 immunotactoid or fibrillary glomerulopathy skos:exactMatch MEDGEN:1842578 semapv:UnspecifiedMatching MONDO:0019605 immunotactoid or fibrillary glomerulopathy skos:exactMatch Orphanet:91137 Immunotactoid or fibrillary glomerulopathy semapv:UnspecifiedMatching MONDO:0019605 immunotactoid or fibrillary glomerulopathy skos:exactMatch UMLS:C5680195 semapv:UnspecifiedMatching MONDO:0019606 simple cryoglobulinemia skos:exactMatch MEDGEN:1383731 semapv:UnspecifiedMatching MONDO:0019606 simple cryoglobulinemia skos:exactMatch Orphanet:91139 Simple cryoglobulinemia semapv:UnspecifiedMatching MONDO:0019606 simple cryoglobulinemia skos:exactMatch SCTID:723674005 semapv:UnspecifiedMatching MONDO:0019606 simple cryoglobulinemia skos:exactMatch UMLS:C4510006 semapv:UnspecifiedMatching MONDO:0019607 unspecified juvenile idiopathic arthritis skos:exactMatch EFO:0009734 semapv:UnspecifiedMatching MONDO:0019607 unspecified juvenile idiopathic arthritis skos:exactMatch MEDGEN:1842681 semapv:UnspecifiedMatching MONDO:0019607 unspecified juvenile idiopathic arthritis skos:exactMatch Orphanet:91140 Unspecified juvenile idiopathic arthritis semapv:UnspecifiedMatching MONDO:0019607 unspecified juvenile idiopathic arthritis skos:exactMatch UMLS:C5680196 semapv:UnspecifiedMatching MONDO:0019608 obsolete 46,XX disorder of sex development induced by maternal-derived androgen skos:exactMatch Orphanet:91144 46,XX difference of sex development induced by maternal-derived androgen semapv:UnspecifiedMatching MONDO:0019608 obsolete 46,XX disorder of sex development induced by maternal-derived androgen skos:exactMatch icd11.foundation:293874628 46,XX disorders of sex development induced by androgens of maternal origin semapv:UnspecifiedMatching MONDO:0019609 Zellweger spectrum disorders skos:exactMatch DOID:905 Zellweger syndrome semapv:UnspecifiedMatching MONDO:0019609 Zellweger spectrum disorders skos:exactMatch ICD10CM:E71.510 Zellweger syndrome semapv:UnspecifiedMatching MONDO:0019609 Zellweger spectrum disorders skos:exactMatch MEDGEN:21958 semapv:UnspecifiedMatching MONDO:0019609 Zellweger spectrum disorders skos:exactMatch NCIT:C85239 Zellweger Syndrome semapv:UnspecifiedMatching MONDO:0019609 Zellweger spectrum disorders skos:exactMatch Orphanet:772 Infantile Refsum disease semapv:UnspecifiedMatching MONDO:0019609 Zellweger spectrum disorders skos:exactMatch Orphanet:912 Zellweger syndrome semapv:UnspecifiedMatching MONDO:0019609 Zellweger spectrum disorders skos:exactMatch SCTID:88469006 semapv:UnspecifiedMatching MONDO:0019609 Zellweger spectrum disorders skos:exactMatch UMLS:C0043459 semapv:UnspecifiedMatching MONDO:0019609 Zellweger spectrum disorders skos:exactMatch mesh:D015211 semapv:UnspecifiedMatching MONDO:0019610 Zollinger-Ellison syndrome skos:exactMatch DOID:0050782 Zollinger-Ellison syndrome semapv:UnspecifiedMatching MONDO:0019610 Zollinger-Ellison syndrome skos:exactMatch EFO:0007549 semapv:UnspecifiedMatching MONDO:0019610 Zollinger-Ellison syndrome skos:exactMatch MEDGEN:53129 semapv:UnspecifiedMatching MONDO:0019610 Zollinger-Ellison syndrome skos:exactMatch NCIT:C3453 Zollinger Ellison Syndrome semapv:UnspecifiedMatching MONDO:0019610 Zollinger-Ellison syndrome skos:exactMatch Orphanet:913 Zollinger-Ellison syndrome semapv:UnspecifiedMatching MONDO:0019610 Zollinger-Ellison syndrome skos:exactMatch SCTID:53132006 semapv:UnspecifiedMatching MONDO:0019610 Zollinger-Ellison syndrome skos:exactMatch UMLS:C0043515 semapv:UnspecifiedMatching MONDO:0019610 Zollinger-Ellison syndrome skos:exactMatch icd11.foundation:375645550 Zollinger-Ellison syndrome semapv:UnspecifiedMatching MONDO:0019610 Zollinger-Ellison syndrome skos:exactMatch mesh:D015043 semapv:UnspecifiedMatching MONDO:0019611 TSH-secreting pituitary adenoma skos:exactMatch MEDGEN:87550 semapv:UnspecifiedMatching MONDO:0019611 TSH-secreting pituitary adenoma skos:exactMatch Orphanet:91347 TSH-secreting pituitary adenoma semapv:UnspecifiedMatching MONDO:0019611 TSH-secreting pituitary adenoma skos:exactMatch UMLS:C0346303 semapv:UnspecifiedMatching MONDO:0019611 TSH-secreting pituitary adenoma skos:exactMatch icd11.foundation:125504731 TSH-secreting pituitary adenoma semapv:UnspecifiedMatching MONDO:0019612 functioning gonadotropic adenoma skos:exactMatch MEDGEN:577353 semapv:UnspecifiedMatching MONDO:0019612 functioning gonadotropic adenoma skos:exactMatch NCIT:C45915 Gonadotroph Pituitary Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO:0019612 functioning gonadotropic adenoma skos:exactMatch Orphanet:91348 Functioning gonadotropic adenoma semapv:UnspecifiedMatching MONDO:0019612 functioning gonadotropic adenoma skos:exactMatch SCTID:254960002 semapv:UnspecifiedMatching MONDO:0019612 functioning gonadotropic adenoma skos:exactMatch UMLS:C0346304 semapv:UnspecifiedMatching MONDO:0019613 non-functioning pituitary adenoma skos:exactMatch DOID:5715 functionless pituitary adenoma semapv:UnspecifiedMatching MONDO:0019613 non-functioning pituitary adenoma skos:exactMatch EFO:0008516 semapv:UnspecifiedMatching MONDO:0019613 non-functioning pituitary adenoma skos:exactMatch NCIT:C4348 Non-Functioning Pituitary Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO:0019613 non-functioning pituitary adenoma skos:exactMatch Orphanet:91349 Non-functioning pituitary adenoma semapv:UnspecifiedMatching MONDO:0019613 non-functioning pituitary adenoma skos:exactMatch SCTID:254962005 semapv:UnspecifiedMatching MONDO:0019613 non-functioning pituitary adenoma skos:exactMatch icd11.foundation:1197752358 Non-secreting pituitary adenoma semapv:UnspecifiedMatching MONDO:0019614 pituitary deficiency due to Rathke's pouch cysts skos:exactMatch MEDGEN:1676440 semapv:UnspecifiedMatching MONDO:0019614 pituitary deficiency due to Rathke's pouch cysts skos:exactMatch Orphanet:91350 Pituitary deficiency due to Rathke cleft cysts semapv:UnspecifiedMatching MONDO:0019614 pituitary deficiency due to Rathke's pouch cysts skos:exactMatch UMLS:C5190782 semapv:UnspecifiedMatching MONDO:0019615 pituitary dermoid and epidermoid cysts skos:exactMatch MEDGEN:1674582 semapv:UnspecifiedMatching MONDO:0019615 pituitary dermoid and epidermoid cysts skos:exactMatch Orphanet:91351 Pituitary dermoid and epidermoid cysts semapv:UnspecifiedMatching MONDO:0019615 pituitary dermoid and epidermoid cysts skos:exactMatch UMLS:C5190781 semapv:UnspecifiedMatching MONDO:0019617 pituitary deficiency due to empty sella turcica syndrome skos:exactMatch MEDGEN:902244 semapv:UnspecifiedMatching MONDO:0019617 pituitary deficiency due to empty sella turcica syndrome skos:exactMatch Orphanet:91354 Pituitary deficiency due to empty sella turcica syndrome semapv:UnspecifiedMatching MONDO:0019617 pituitary deficiency due to empty sella turcica syndrome skos:exactMatch SCTID:715668008 semapv:UnspecifiedMatching MONDO:0019617 pituitary deficiency due to empty sella turcica syndrome skos:exactMatch UMLS:C4275064 semapv:UnspecifiedMatching MONDO:0019617 pituitary deficiency due to empty sella turcica syndrome skos:exactMatch icd11.foundation:309067714 Pituitary deficiency due to empty sella turcica syndrome semapv:UnspecifiedMatching MONDO:0019618 Sheehan syndrome skos:exactMatch DOID:9476 Sheehan syndrome semapv:UnspecifiedMatching MONDO:0019618 Sheehan syndrome skos:exactMatch MEDGEN:116569 semapv:UnspecifiedMatching MONDO:0019618 Sheehan syndrome skos:exactMatch NCIT:C35300 Sheehan Syndrome semapv:UnspecifiedMatching MONDO:0019618 Sheehan syndrome skos:exactMatch Orphanet:91355 Sheehan syndrome semapv:UnspecifiedMatching MONDO:0019618 Sheehan syndrome skos:exactMatch SCTID:290653008 semapv:UnspecifiedMatching MONDO:0019618 Sheehan syndrome skos:exactMatch UMLS:C0242342 semapv:UnspecifiedMatching MONDO:0019618 Sheehan syndrome skos:exactMatch icd11.foundation:421687193 Sheehan syndrome semapv:UnspecifiedMatching MONDO:0019619 obsolete duplication of the esophagus skos:exactMatch Orphanet:91357 Duplication of the esophagus semapv:UnspecifiedMatching MONDO:0019620 congenital esophageal diverticulum skos:exactMatch ICD10CM:Q39.6 Congenital diverticulum of esophagus semapv:UnspecifiedMatching MONDO:0019620 congenital esophageal diverticulum skos:exactMatch MEDGEN:539704 semapv:UnspecifiedMatching MONDO:0019620 congenital esophageal diverticulum skos:exactMatch Orphanet:91358 Congenital esophageal diverticulum semapv:UnspecifiedMatching MONDO:0019620 congenital esophageal diverticulum skos:exactMatch SCTID:204667006 semapv:UnspecifiedMatching MONDO:0019620 congenital esophageal diverticulum skos:exactMatch UMLS:C0266133 semapv:UnspecifiedMatching MONDO:0019620 congenital esophageal diverticulum skos:exactMatch icd11.foundation:42183618 Congenital diverticulum of oesophagus semapv:UnspecifiedMatching MONDO:0019621 chronic pneumonitis of infancy skos:exactMatch MEDGEN:846677 semapv:UnspecifiedMatching MONDO:0019621 chronic pneumonitis of infancy skos:exactMatch Orphanet:91359 Chronic pneumonitis of infancy semapv:UnspecifiedMatching MONDO:0019621 chronic pneumonitis of infancy skos:exactMatch SCTID:708026002 semapv:UnspecifiedMatching MONDO:0019621 chronic pneumonitis of infancy skos:exactMatch UMLS:C3872848 semapv:UnspecifiedMatching MONDO:0019621 chronic pneumonitis of infancy skos:exactMatch icd11.foundation:1821220054 Chronic pneumonitis of infancy semapv:UnspecifiedMatching MONDO:0019622 non-specific interstitial pneumonia skos:exactMatch DOID:2801 nonspecific interstitial pneumonia semapv:UnspecifiedMatching MONDO:0019622 non-specific interstitial pneumonia skos:exactMatch MEDGEN:220936 semapv:UnspecifiedMatching MONDO:0019622 non-specific interstitial pneumonia skos:exactMatch NCIT:C35717 Nonspecific Interstitial Pneumonia semapv:UnspecifiedMatching MONDO:0019622 non-specific interstitial pneumonia skos:exactMatch Orphanet:91364 Non-specific interstitial pneumonia semapv:UnspecifiedMatching MONDO:0019622 non-specific interstitial pneumonia skos:exactMatch SCTID:129452008 semapv:UnspecifiedMatching MONDO:0019622 non-specific interstitial pneumonia skos:exactMatch UMLS:C1290344 semapv:UnspecifiedMatching MONDO:0019623 hereditary angioedema skos:exactMatch DOID:14735 hereditary angioedema semapv:UnspecifiedMatching MONDO:0019623 hereditary angioedema skos:exactMatch MEDGEN:9229 semapv:UnspecifiedMatching MONDO:0019623 hereditary angioedema skos:exactMatch NCIT:C84758 Hereditary Angioedema semapv:UnspecifiedMatching MONDO:0019623 hereditary angioedema skos:exactMatch OMIMPS:106100 Angioedema, hereditary semapv:UnspecifiedMatching MONDO:0019623 hereditary angioedema skos:exactMatch Orphanet:91378 Hereditary angioedema semapv:UnspecifiedMatching MONDO:0019623 hereditary angioedema skos:exactMatch SCTID:82966003 semapv:UnspecifiedMatching MONDO:0019623 hereditary angioedema skos:exactMatch UMLS:C0019243 semapv:UnspecifiedMatching MONDO:0019623 hereditary angioedema skos:exactMatch icd11.foundation:795969334 Hereditary angioedema semapv:UnspecifiedMatching MONDO:0019623 hereditary angioedema skos:exactMatch mesh:D054179 semapv:UnspecifiedMatching MONDO:0019624 acquired angioedema skos:exactMatch DOID:0080941 acquired angioedema semapv:UnspecifiedMatching MONDO:0019624 acquired angioedema skos:exactMatch MEDGEN:419486 semapv:UnspecifiedMatching MONDO:0019624 acquired angioedema skos:exactMatch Orphanet:91385 Acquired angioedema semapv:UnspecifiedMatching MONDO:0019624 acquired angioedema skos:exactMatch UMLS:C2931758 semapv:UnspecifiedMatching MONDO:0019624 acquired angioedema skos:exactMatch icd11.foundation:1078767412 Acquired angioedema semapv:UnspecifiedMatching MONDO:0019624 acquired angioedema skos:exactMatch mesh:C538173 semapv:UnspecifiedMatching MONDO:0019625 familial thoracic aortic aneurysm and aortic dissection skos:exactMatch MEDGEN:1644766 semapv:UnspecifiedMatching MONDO:0019625 familial thoracic aortic aneurysm and aortic dissection skos:exactMatch OMIMPS:607086 Aortic aneurysm, familial thoracic semapv:UnspecifiedMatching MONDO:0019625 familial thoracic aortic aneurysm and aortic dissection skos:exactMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:UnspecifiedMatching MONDO:0019625 familial thoracic aortic aneurysm and aortic dissection skos:exactMatch SCTID:45894003 semapv:UnspecifiedMatching MONDO:0019625 familial thoracic aortic aneurysm and aortic dissection skos:exactMatch SCTID:764965000 semapv:UnspecifiedMatching MONDO:0019625 familial thoracic aortic aneurysm and aortic dissection skos:exactMatch UMLS:C4707243 semapv:UnspecifiedMatching MONDO:0019626 isolated ankyloblepharon filiforme adnatum skos:exactMatch MEDGEN:227001 semapv:UnspecifiedMatching MONDO:0019626 isolated ankyloblepharon filiforme adnatum skos:exactMatch Orphanet:91397 Isolated ankyloblepharon filiforme adnatum semapv:UnspecifiedMatching MONDO:0019626 isolated ankyloblepharon filiforme adnatum skos:exactMatch UMLS:C1302999 semapv:UnspecifiedMatching MONDO:0019626 isolated ankyloblepharon filiforme adnatum skos:exactMatch icd11.foundation:1002292151 Ankyloblepharon filiforme adnatum semapv:UnspecifiedMatching MONDO:0019627 isolated congenital alacrima skos:exactMatch MEDGEN:896261 semapv:UnspecifiedMatching MONDO:0019627 isolated congenital alacrima skos:exactMatch Orphanet:91416 Isolated congenital alacrima semapv:UnspecifiedMatching MONDO:0019627 isolated congenital alacrima skos:exactMatch SCTID:717262004 semapv:UnspecifiedMatching MONDO:0019627 isolated congenital alacrima skos:exactMatch UMLS:C4273963 semapv:UnspecifiedMatching MONDO:0019628 Rieger anomaly skos:exactMatch MEDGEN:78558 semapv:UnspecifiedMatching MONDO:0019628 Rieger anomaly skos:exactMatch Orphanet:91483 Rieger anomaly semapv:UnspecifiedMatching MONDO:0019628 Rieger anomaly skos:exactMatch UMLS:C0265341 semapv:UnspecifiedMatching MONDO:0019629 sclerocornea skos:exactMatch DOID:0060252 sclerocornea semapv:UnspecifiedMatching MONDO:0019629 sclerocornea skos:exactMatch MEDGEN:344000 semapv:UnspecifiedMatching MONDO:0019629 sclerocornea skos:exactMatch Orphanet:91490 Isolated congenital sclerocornea semapv:UnspecifiedMatching MONDO:0019629 sclerocornea skos:exactMatch UMLS:C1853235 semapv:UnspecifiedMatching MONDO:0019629 sclerocornea skos:exactMatch icd11.foundation:995798428 Sclerocornea semapv:UnspecifiedMatching MONDO:0019629 sclerocornea skos:exactMatch mesh:C565209 semapv:UnspecifiedMatching MONDO:0019630 congenital ectropion uveae skos:exactMatch MEDGEN:724517 semapv:UnspecifiedMatching MONDO:0019630 congenital ectropion uveae skos:exactMatch Orphanet:91491 Congenital ectropion uveae semapv:UnspecifiedMatching MONDO:0019630 congenital ectropion uveae skos:exactMatch UMLS:C1303012 semapv:UnspecifiedMatching MONDO:0019631 persistent hyperplastic primary vitreous skos:exactMatch DOID:0060282 persistent hyperplastic primary vitreous semapv:UnspecifiedMatching MONDO:0019631 persistent hyperplastic primary vitreous skos:exactMatch MEDGEN:120583 semapv:UnspecifiedMatching MONDO:0019631 persistent hyperplastic primary vitreous skos:exactMatch NCIT:C161554 Persistent Hyperplastic Primary Vitreous semapv:UnspecifiedMatching MONDO:0019631 persistent hyperplastic primary vitreous skos:exactMatch OMIMPS:221900 Persistent hyperplastic primary vitreous semapv:UnspecifiedMatching MONDO:0019631 persistent hyperplastic primary vitreous skos:exactMatch Orphanet:91495 Persistent hyperplastic primary vitreous semapv:UnspecifiedMatching MONDO:0019631 persistent hyperplastic primary vitreous skos:exactMatch SCTID:314270008 semapv:UnspecifiedMatching MONDO:0019631 persistent hyperplastic primary vitreous skos:exactMatch UMLS:C0266568 semapv:UnspecifiedMatching MONDO:0019631 persistent hyperplastic primary vitreous skos:exactMatch icd11.foundation:1011137326 Persistent hyperplastic primary vitreous semapv:UnspecifiedMatching MONDO:0019631 persistent hyperplastic primary vitreous skos:exactMatch mesh:D054514 semapv:UnspecifiedMatching MONDO:0019632 Lyme disease skos:exactMatch DOID:11729 Lyme disease semapv:UnspecifiedMatching MONDO:0019632 Lyme disease skos:exactMatch EFO:0008510 semapv:UnspecifiedMatching MONDO:0019632 Lyme disease skos:exactMatch ICD10CM:A69.2 Lyme disease semapv:UnspecifiedMatching MONDO:0019632 Lyme disease skos:exactMatch MEDGEN:44213 semapv:UnspecifiedMatching MONDO:0019632 Lyme disease skos:exactMatch NCIT:C45161 Borrelia Burgdorferi Infection semapv:UnspecifiedMatching MONDO:0019632 Lyme disease skos:exactMatch Orphanet:91546 Lyme disease semapv:UnspecifiedMatching MONDO:0019632 Lyme disease skos:exactMatch SCTID:48982009 semapv:UnspecifiedMatching MONDO:0019632 Lyme disease skos:exactMatch UMLS:C0024198 semapv:UnspecifiedMatching MONDO:0019632 Lyme disease skos:exactMatch icd11.foundation:1600014919 Lyme borreliosis semapv:UnspecifiedMatching MONDO:0019632 Lyme disease skos:exactMatch mesh:D008193 semapv:UnspecifiedMatching MONDO:0019633 relapsing fever skos:exactMatch DOID:13034 relapsing fever semapv:UnspecifiedMatching MONDO:0019633 relapsing fever skos:exactMatch ICD10CM:A68 Relapsing fevers semapv:UnspecifiedMatching MONDO:0019633 relapsing fever skos:exactMatch MEDGEN:48397 semapv:UnspecifiedMatching MONDO:0019633 relapsing fever skos:exactMatch Orphanet:91547 Relapsing fever semapv:UnspecifiedMatching MONDO:0019633 relapsing fever skos:exactMatch SCTID:420079008 semapv:UnspecifiedMatching MONDO:0019633 relapsing fever skos:exactMatch UMLS:C0035021 semapv:UnspecifiedMatching MONDO:0019633 relapsing fever skos:exactMatch icd11.foundation:965498095 Relapsing fever semapv:UnspecifiedMatching MONDO:0019633 relapsing fever skos:exactMatch mesh:D012061 semapv:UnspecifiedMatching MONDO:0019634 familial nasal acilia skos:exactMatch MEDGEN:1647725 semapv:UnspecifiedMatching MONDO:0019634 familial nasal acilia skos:exactMatch Orphanet:922 Familial nasal acilia semapv:UnspecifiedMatching MONDO:0019634 familial nasal acilia skos:exactMatch SCTID:763532008 semapv:UnspecifiedMatching MONDO:0019634 familial nasal acilia skos:exactMatch UMLS:C4706505 semapv:UnspecifiedMatching MONDO:0019635 idiopathic achalasia skos:exactMatch MEDGEN:798339 semapv:UnspecifiedMatching MONDO:0019635 idiopathic achalasia skos:exactMatch Orphanet:930 Idiopathic achalasia semapv:UnspecifiedMatching MONDO:0019635 idiopathic achalasia skos:exactMatch SCTID:715192004 semapv:UnspecifiedMatching MONDO:0019635 idiopathic achalasia skos:exactMatch UMLS:C0859976 semapv:UnspecifiedMatching MONDO:0019635 idiopathic achalasia skos:exactMatch icd11.foundation:396058084 Primary achalasia semapv:UnspecifiedMatching MONDO:0019636 renal agenesis, unilateral skos:exactMatch ICD10CM:Q60.0 Renal agenesis, unilateral semapv:UnspecifiedMatching MONDO:0019636 renal agenesis, unilateral skos:exactMatch MEDGEN:75607 semapv:UnspecifiedMatching MONDO:0019636 renal agenesis, unilateral skos:exactMatch NCIT:C101220 Unilateral Renal Agenesis semapv:UnspecifiedMatching MONDO:0019636 renal agenesis, unilateral skos:exactMatch Orphanet:93100 Renal agenesis, unilateral semapv:UnspecifiedMatching MONDO:0019636 renal agenesis, unilateral skos:exactMatch UMLS:C0266294 semapv:UnspecifiedMatching MONDO:0019636 renal agenesis, unilateral skos:exactMatch icd11.foundation:760295498 Renal agenesis, unilateral semapv:UnspecifiedMatching MONDO:0019637 renal hypoplasia skos:exactMatch DOID:0080204 renal hypoplasia semapv:UnspecifiedMatching MONDO:0019637 renal hypoplasia skos:exactMatch MEDGEN:120571 semapv:UnspecifiedMatching MONDO:0019637 renal hypoplasia skos:exactMatch Orphanet:93101 Renal hypoplasia semapv:UnspecifiedMatching MONDO:0019637 renal hypoplasia skos:exactMatch SCTID:32659003 semapv:UnspecifiedMatching MONDO:0019637 renal hypoplasia skos:exactMatch UMLS:C0266295 semapv:UnspecifiedMatching MONDO:0019638 renal dysplasia skos:exactMatch ICD10CM:Q61.4 Renal dysplasia semapv:UnspecifiedMatching MONDO:0019638 renal dysplasia skos:exactMatch MEDGEN:760690 semapv:UnspecifiedMatching MONDO:0019638 renal dysplasia skos:exactMatch Orphanet:93108 Renal dysplasia semapv:UnspecifiedMatching MONDO:0019638 renal dysplasia skos:exactMatch UMLS:C3536714 semapv:UnspecifiedMatching MONDO:0019638 renal dysplasia skos:exactMatch icd11.foundation:921320354 Renal dysplasia semapv:UnspecifiedMatching MONDO:0019639 congenital megacalycosis skos:exactMatch MEDGEN:1782490 semapv:UnspecifiedMatching MONDO:0019639 congenital megacalycosis skos:exactMatch Orphanet:93109 Congenital megacalycosis semapv:UnspecifiedMatching MONDO:0019639 congenital megacalycosis skos:exactMatch SCTID:85901000 semapv:UnspecifiedMatching MONDO:0019639 congenital megacalycosis skos:exactMatch UMLS:C5545379 semapv:UnspecifiedMatching MONDO:0019639 congenital megacalycosis skos:exactMatch icd11.foundation:954627950 Congenital megacalycosis semapv:UnspecifiedMatching MONDO:0019640 posterior urethral valve skos:exactMatch ICD10CM:Q64.2 Congenital posterior urethral valves semapv:UnspecifiedMatching MONDO:0019640 posterior urethral valve skos:exactMatch MEDGEN:451008 semapv:UnspecifiedMatching MONDO:0019640 posterior urethral valve skos:exactMatch NCIT:C99021 Posterior Urethral Valve semapv:UnspecifiedMatching MONDO:0019640 posterior urethral valve skos:exactMatch Orphanet:93110 Posterior urethral valve semapv:UnspecifiedMatching MONDO:0019640 posterior urethral valve skos:exactMatch SCTID:253900005 semapv:UnspecifiedMatching MONDO:0019640 posterior urethral valve skos:exactMatch UMLS:C0238506 semapv:UnspecifiedMatching MONDO:0019641 Pauci-immune glomerulonephritis skos:exactMatch MEDGEN:575439 semapv:UnspecifiedMatching MONDO:0019641 Pauci-immune glomerulonephritis skos:exactMatch Orphanet:93126 Pauci-immune glomerulonephritis semapv:UnspecifiedMatching MONDO:0019641 Pauci-immune glomerulonephritis skos:exactMatch UMLS:C0343196 semapv:UnspecifiedMatching MONDO:0019641 Pauci-immune glomerulonephritis skos:exactMatch icd11.foundation:1359757645 Pauci-immune proliferative glomerulonephritis semapv:UnspecifiedMatching MONDO:0019642 vitamin D-dependent rickets, type 2 skos:exactMatch MEDGEN:760752 semapv:UnspecifiedMatching MONDO:0019642 vitamin D-dependent rickets, type 2 skos:exactMatch NCIT:C131077 Vitamin D Dependent Rickets 2 semapv:UnspecifiedMatching MONDO:0019642 vitamin D-dependent rickets, type 2 skos:exactMatch Orphanet:93160 Hypocalcemic vitamin D-resistant rickets semapv:UnspecifiedMatching MONDO:0019642 vitamin D-dependent rickets, type 2 skos:exactMatch SCTID:72831007 semapv:UnspecifiedMatching MONDO:0019642 vitamin D-dependent rickets, type 2 skos:exactMatch UMLS:C3536983 semapv:UnspecifiedMatching MONDO:0019642 vitamin D-dependent rickets, type 2 skos:exactMatch icd11.foundation:2041886796 Hypocalcaemic vitamin D resistant rickets semapv:UnspecifiedMatching MONDO:0019643 transient pseudohypoaldosteronism skos:exactMatch MEDGEN:900190 semapv:UnspecifiedMatching MONDO:0019643 transient pseudohypoaldosteronism skos:exactMatch Orphanet:93164 Transient pseudohypoaldosteronism semapv:UnspecifiedMatching MONDO:0019643 transient pseudohypoaldosteronism skos:exactMatch SCTID:717263009 semapv:UnspecifiedMatching MONDO:0019643 transient pseudohypoaldosteronism skos:exactMatch UMLS:C4273962 semapv:UnspecifiedMatching MONDO:0019643 transient pseudohypoaldosteronism skos:exactMatch icd11.foundation:225064822 Transient pseudohypoaldosteronism semapv:UnspecifiedMatching MONDO:0019644 renal dysplasia, unilateral skos:exactMatch MEDGEN:140916 semapv:UnspecifiedMatching MONDO:0019644 renal dysplasia, unilateral skos:exactMatch Orphanet:93172 Renal dysplasia, unilateral semapv:UnspecifiedMatching MONDO:0019644 renal dysplasia, unilateral skos:exactMatch UMLS:C0431697 semapv:UnspecifiedMatching MONDO:0019645 renal dysplasia, bilateral skos:exactMatch MEDGEN:609101 semapv:UnspecifiedMatching MONDO:0019645 renal dysplasia, bilateral skos:exactMatch Orphanet:93173 Renal dysplasia, bilateral semapv:UnspecifiedMatching MONDO:0019645 renal dysplasia, bilateral skos:exactMatch SCTID:204950001 semapv:UnspecifiedMatching MONDO:0019645 renal dysplasia, bilateral skos:exactMatch UMLS:C0431698 semapv:UnspecifiedMatching MONDO:0019646 unilateral congenital megacalycosis skos:exactMatch MEDGEN:1842948 semapv:UnspecifiedMatching MONDO:0019646 unilateral congenital megacalycosis skos:exactMatch Orphanet:93176 Unilateral congenital megacalycosis semapv:UnspecifiedMatching MONDO:0019646 unilateral congenital megacalycosis skos:exactMatch UMLS:C5681456 semapv:UnspecifiedMatching MONDO:0019647 congenital bilateral megacalycosis skos:exactMatch MEDGEN:1842447 semapv:UnspecifiedMatching MONDO:0019647 congenital bilateral megacalycosis skos:exactMatch Orphanet:93177 Congenital bilateral megacalycosis semapv:UnspecifiedMatching MONDO:0019647 congenital bilateral megacalycosis skos:exactMatch UMLS:C5681455 semapv:UnspecifiedMatching MONDO:0019648 achondrogenesis skos:exactMatch DOID:0080043 achondrogenesis semapv:UnspecifiedMatching MONDO:0019648 achondrogenesis skos:exactMatch ICD10CM:Q77.0 Achondrogenesis semapv:UnspecifiedMatching MONDO:0019648 achondrogenesis skos:exactMatch MEDGEN:84 semapv:UnspecifiedMatching MONDO:0019648 achondrogenesis skos:exactMatch NCIT:C84527 Achondrogenesis semapv:UnspecifiedMatching MONDO:0019648 achondrogenesis skos:exactMatch OMIMPS:200600 Achondrogenesis semapv:UnspecifiedMatching MONDO:0019648 achondrogenesis skos:exactMatch Orphanet:932 Achondrogenesis semapv:UnspecifiedMatching MONDO:0019648 achondrogenesis skos:exactMatch SCTID:2391001 semapv:UnspecifiedMatching MONDO:0019648 achondrogenesis skos:exactMatch UMLS:C0001079 semapv:UnspecifiedMatching MONDO:0019648 achondrogenesis skos:exactMatch icd11.foundation:103965243 Achondrogenesis semapv:UnspecifiedMatching MONDO:0019648 achondrogenesis skos:exactMatch mesh:C579878 semapv:UnspecifiedMatching MONDO:0019657 obsolete sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes skos:exactMatch Orphanet:93221 OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes semapv:UnspecifiedMatching MONDO:0019658 obsolete sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation skos:exactMatch Orphanet:93222 OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation semapv:UnspecifiedMatching MONDO:0019659 Pfeiffer syndrome type 1 skos:exactMatch MEDGEN:1726699 semapv:UnspecifiedMatching MONDO:0019659 Pfeiffer syndrome type 1 skos:exactMatch Orphanet:93258 Pfeiffer syndrome type 1 semapv:UnspecifiedMatching MONDO:0019659 Pfeiffer syndrome type 1 skos:exactMatch UMLS:C5438812 semapv:UnspecifiedMatching MONDO:0019659 Pfeiffer syndrome type 1 skos:exactMatch icd11.foundation:490354109 Pfeiffer syndrome type 1 semapv:UnspecifiedMatching MONDO:0019660 Pfeiffer syndrome type 2 skos:exactMatch MEDGEN:1761826 semapv:UnspecifiedMatching MONDO:0019660 Pfeiffer syndrome type 2 skos:exactMatch Orphanet:93259 Pfeiffer syndrome type 2 semapv:UnspecifiedMatching MONDO:0019660 Pfeiffer syndrome type 2 skos:exactMatch UMLS:C5438849 semapv:UnspecifiedMatching MONDO:0019660 Pfeiffer syndrome type 2 skos:exactMatch icd11.foundation:531949642 Pfeiffer syndrome type 2 semapv:UnspecifiedMatching MONDO:0019661 Pfeiffer syndrome type 3 skos:exactMatch MEDGEN:1748161 semapv:UnspecifiedMatching MONDO:0019661 Pfeiffer syndrome type 3 skos:exactMatch Orphanet:93260 Pfeiffer syndrome type 3 semapv:UnspecifiedMatching MONDO:0019661 Pfeiffer syndrome type 3 skos:exactMatch UMLS:C5438850 semapv:UnspecifiedMatching MONDO:0019661 Pfeiffer syndrome type 3 skos:exactMatch icd11.foundation:1910513449 Pfeiffer syndrome type 3 semapv:UnspecifiedMatching MONDO:0019662 short rib-polydactyly syndrome, Majewski type skos:exactMatch Orphanet:93269 Short rib-polydactyly syndrome, Majewski type semapv:UnspecifiedMatching MONDO:0019662 short rib-polydactyly syndrome, Majewski type skos:exactMatch SCTID:72922008 semapv:UnspecifiedMatching MONDO:0019662 short rib-polydactyly syndrome, Majewski type skos:exactMatch icd11.foundation:132740256 Short rib-polydactyly syndrome, Majewski type semapv:UnspecifiedMatching MONDO:0019665 monostotic fibrous dysplasia skos:exactMatch MEDGEN:42020 semapv:UnspecifiedMatching MONDO:0019665 monostotic fibrous dysplasia skos:exactMatch NCIT:C53971 Monostotic Fibrous Dysplasia semapv:UnspecifiedMatching MONDO:0019665 monostotic fibrous dysplasia skos:exactMatch Orphanet:93277 Monostotic fibrous dysplasia semapv:UnspecifiedMatching MONDO:0019665 monostotic fibrous dysplasia skos:exactMatch SCTID:89859004 semapv:UnspecifiedMatching MONDO:0019665 monostotic fibrous dysplasia skos:exactMatch UMLS:C0016064 semapv:UnspecifiedMatching MONDO:0019665 monostotic fibrous dysplasia skos:exactMatch icd11.foundation:1033883899 Monostotic fibrous dysplasia semapv:UnspecifiedMatching MONDO:0019665 monostotic fibrous dysplasia skos:exactMatch mesh:D005358 semapv:UnspecifiedMatching MONDO:0019666 spondyloepimetaphyseal dysplasia, PAPSS2 type skos:exactMatch DOID:0050812 spondyloepimetaphyseal dysplasia, Pakistani type semapv:UnspecifiedMatching MONDO:0019666 spondyloepimetaphyseal dysplasia, PAPSS2 type skos:exactMatch MEDGEN:440564 semapv:UnspecifiedMatching MONDO:0019666 spondyloepimetaphyseal dysplasia, PAPSS2 type skos:exactMatch OMIM:612847 brachyolmia type 4 with mild epiphyseal and metaphyseal changes semapv:UnspecifiedMatching MONDO:0019666 spondyloepimetaphyseal dysplasia, PAPSS2 type skos:exactMatch Orphanet:93282 Spondyloepimetaphyseal dysplasia, PAPSS2 type semapv:UnspecifiedMatching MONDO:0019666 spondyloepimetaphyseal dysplasia, PAPSS2 type skos:exactMatch SCTID:719172003 semapv:UnspecifiedMatching MONDO:0019666 spondyloepimetaphyseal dysplasia, PAPSS2 type skos:exactMatch UMLS:C2748516 semapv:UnspecifiedMatching MONDO:0019667 spondyloepiphyseal dysplasia tarda skos:exactMatch DOID:0112284 spondyloepiphyseal dysplasia tarda semapv:UnspecifiedMatching MONDO:0019667 spondyloepiphyseal dysplasia tarda skos:exactMatch Orphanet:93284 Spondyloepiphyseal dysplasia tarda semapv:UnspecifiedMatching MONDO:0019667 spondyloepiphyseal dysplasia tarda skos:exactMatch SCTID:51952004 semapv:UnspecifiedMatching MONDO:0019668 adenoma of pancreas skos:exactMatch MEDGEN:256157 semapv:UnspecifiedMatching MONDO:0019668 adenoma of pancreas skos:exactMatch Orphanet:93292 Adenoma of pancreas semapv:UnspecifiedMatching MONDO:0019668 adenoma of pancreas skos:exactMatch SCTID:208061000119101 semapv:UnspecifiedMatching MONDO:0019668 adenoma of pancreas skos:exactMatch UMLS:C1142432 semapv:UnspecifiedMatching MONDO:0019668 adenoma of pancreas skos:exactMatch mesh:C538110 semapv:UnspecifiedMatching MONDO:0019669 hypochondrogenesis skos:exactMatch DOID:0080044 hypochondrogenesis semapv:UnspecifiedMatching MONDO:0019669 hypochondrogenesis skos:exactMatch MEDGEN:107448 semapv:UnspecifiedMatching MONDO:0019669 hypochondrogenesis skos:exactMatch Orphanet:93297 Hypochondrogenesis semapv:UnspecifiedMatching MONDO:0019669 hypochondrogenesis skos:exactMatch UMLS:C0542428 semapv:UnspecifiedMatching MONDO:0019669 hypochondrogenesis skos:exactMatch icd11.foundation:1494246635 Hypochondrogenesis semapv:UnspecifiedMatching MONDO:0019669 hypochondrogenesis skos:exactMatch mesh:C563007 semapv:UnspecifiedMatching MONDO:0019670 ulnar hemimelia skos:exactMatch MEDGEN:539346 semapv:UnspecifiedMatching MONDO:0019670 ulnar hemimelia skos:exactMatch Orphanet:93320 Isolated ulnar hemimelia semapv:UnspecifiedMatching MONDO:0019670 ulnar hemimelia skos:exactMatch SCTID:21893008 semapv:UnspecifiedMatching MONDO:0019670 ulnar hemimelia skos:exactMatch UMLS:C0265583 semapv:UnspecifiedMatching MONDO:0019670 ulnar hemimelia skos:exactMatch icd11.foundation:1136383237 Ulnar hemimelia semapv:UnspecifiedMatching MONDO:0019671 radial hemimelia skos:exactMatch ICD10CM:Q71.4 Longitudinal reduction defect of radius semapv:UnspecifiedMatching MONDO:0019671 radial hemimelia skos:exactMatch MEDGEN:539344 semapv:UnspecifiedMatching MONDO:0019671 radial hemimelia skos:exactMatch Orphanet:93321 Isolated radial hemimelia semapv:UnspecifiedMatching MONDO:0019671 radial hemimelia skos:exactMatch SCTID:48008009 semapv:UnspecifiedMatching MONDO:0019671 radial hemimelia skos:exactMatch UMLS:C0265581 semapv:UnspecifiedMatching MONDO:0019671 radial hemimelia skos:exactMatch icd11.foundation:653269137 Radial hemimelia semapv:UnspecifiedMatching MONDO:0019672 fibular hemimelia skos:exactMatch MEDGEN:539380 semapv:UnspecifiedMatching MONDO:0019672 fibular hemimelia skos:exactMatch Orphanet:93323 Isolated fibular hemimelia semapv:UnspecifiedMatching MONDO:0019672 fibular hemimelia skos:exactMatch UMLS:C0265634 semapv:UnspecifiedMatching MONDO:0019672 fibular hemimelia skos:exactMatch icd11.foundation:915482054 Fibular hemimelia semapv:UnspecifiedMatching MONDO:0019673 postaxial polydactyly type A skos:exactMatch MEDGEN:854350 semapv:UnspecifiedMatching MONDO:0019673 postaxial polydactyly type A skos:exactMatch Orphanet:93334 Postaxial polydactyly type A semapv:UnspecifiedMatching MONDO:0019673 postaxial polydactyly type A skos:exactMatch SCTID:715704001 semapv:UnspecifiedMatching MONDO:0019673 postaxial polydactyly type A skos:exactMatch UMLS:C3887487 semapv:UnspecifiedMatching MONDO:0019673 postaxial polydactyly type A skos:exactMatch icd11.foundation:476330894 Postaxial polydactyly type A semapv:UnspecifiedMatching MONDO:0019674 postaxial polydactyly type B skos:exactMatch MEDGEN:357425 semapv:UnspecifiedMatching MONDO:0019674 postaxial polydactyly type B skos:exactMatch Orphanet:93335 Postaxial polydactyly type B semapv:UnspecifiedMatching MONDO:0019674 postaxial polydactyly type B skos:exactMatch SCTID:715707008 semapv:UnspecifiedMatching MONDO:0019674 postaxial polydactyly type B skos:exactMatch UMLS:C1868120 semapv:UnspecifiedMatching MONDO:0019674 postaxial polydactyly type B skos:exactMatch icd11.foundation:366939273 Postaxial polydactyly type B semapv:UnspecifiedMatching MONDO:0019675 spondyloepimetaphyseal dysplasia with joint laxity skos:exactMatch DOID:0112197 spondyloepimetaphyseal dysplasia with joint laxity semapv:UnspecifiedMatching MONDO:0019675 spondyloepimetaphyseal dysplasia with joint laxity skos:exactMatch MEDGEN:98148 semapv:UnspecifiedMatching MONDO:0019675 spondyloepimetaphyseal dysplasia with joint laxity skos:exactMatch OMIMPS:271640 Spondyloepimetaphyseal dysplasia with joint laxity semapv:UnspecifiedMatching MONDO:0019675 spondyloepimetaphyseal dysplasia with joint laxity skos:exactMatch SCTID:254100000 semapv:UnspecifiedMatching MONDO:0019675 spondyloepimetaphyseal dysplasia with joint laxity skos:exactMatch UMLS:C0432243 semapv:UnspecifiedMatching MONDO:0019675 spondyloepimetaphyseal dysplasia with joint laxity skos:exactMatch mesh:C562968 semapv:UnspecifiedMatching MONDO:0019676 brachydactyly type B skos:exactMatch MEDGEN:722046 semapv:UnspecifiedMatching MONDO:0019676 brachydactyly type B skos:exactMatch Orphanet:93383 Brachydactyly type B semapv:UnspecifiedMatching MONDO:0019676 brachydactyly type B skos:exactMatch SCTID:389168002 semapv:UnspecifiedMatching MONDO:0019676 brachydactyly type B skos:exactMatch UMLS:C1300267 semapv:UnspecifiedMatching MONDO:0019676 brachydactyly type B skos:exactMatch icd11.foundation:1534264812 Brachydactyly type B semapv:UnspecifiedMatching MONDO:0019677 brachydactyly type E skos:exactMatch MEDGEN:939359 semapv:UnspecifiedMatching MONDO:0019677 brachydactyly type E skos:exactMatch Orphanet:93387 Brachydactyly type E semapv:UnspecifiedMatching MONDO:0019677 brachydactyly type E skos:exactMatch UMLS:C4315392 semapv:UnspecifiedMatching MONDO:0019677 brachydactyly type E skos:exactMatch icd11.foundation:712007423 Brachydactyly type E semapv:UnspecifiedMatching MONDO:0019678 brachydactyly type A5 skos:exactMatch MEDGEN:929661 semapv:UnspecifiedMatching MONDO:0019678 brachydactyly type A5 skos:exactMatch SCTID:720570007 semapv:UnspecifiedMatching MONDO:0019678 brachydactyly type A5 skos:exactMatch UMLS:C4303992 semapv:UnspecifiedMatching MONDO:0019678 brachydactyly type A5 skos:exactMatch icd11.foundation:291957825 Brachydactyly type A5 semapv:UnspecifiedMatching MONDO:0019678 brachydactyly type A5 skos:exactMatch mesh:C537091 semapv:UnspecifiedMatching MONDO:0019679 brachydactyly type A7 skos:exactMatch MEDGEN:929660 semapv:UnspecifiedMatching MONDO:0019679 brachydactyly type A7 skos:exactMatch Orphanet:93397 Brachydactyly type A7 semapv:UnspecifiedMatching MONDO:0019679 brachydactyly type A7 skos:exactMatch SCTID:720571006 semapv:UnspecifiedMatching MONDO:0019679 brachydactyly type A7 skos:exactMatch UMLS:C4303991 semapv:UnspecifiedMatching MONDO:0019679 brachydactyly type A7 skos:exactMatch icd11.foundation:1487696553 Brachydactyly type A7 semapv:UnspecifiedMatching MONDO:0019680 genochondromatosis type 2 skos:exactMatch MEDGEN:1374044 semapv:UnspecifiedMatching MONDO:0019680 genochondromatosis type 2 skos:exactMatch Orphanet:93398 Genochondromatosis type 2 semapv:UnspecifiedMatching MONDO:0019680 genochondromatosis type 2 skos:exactMatch SCTID:725904009 semapv:UnspecifiedMatching MONDO:0019680 genochondromatosis type 2 skos:exactMatch UMLS:C4511481 semapv:UnspecifiedMatching MONDO:0019680 genochondromatosis type 2 skos:exactMatch icd11.foundation:1033432522 Genochondromatosis type 2 semapv:UnspecifiedMatching MONDO:0019681 juvenile sialidosis type 2 skos:exactMatch MEDGEN:1825999 semapv:UnspecifiedMatching MONDO:0019681 juvenile sialidosis type 2 skos:exactMatch Orphanet:93399 Juvenile sialidosis type 2 semapv:UnspecifiedMatching MONDO:0019681 juvenile sialidosis type 2 skos:exactMatch SCTID:111383007 semapv:UnspecifiedMatching MONDO:0019681 juvenile sialidosis type 2 skos:exactMatch UMLS:C5681598 semapv:UnspecifiedMatching MONDO:0019681 juvenile sialidosis type 2 skos:exactMatch icd11.foundation:1730484030 Juvenile sialidosis type 2 semapv:UnspecifiedMatching MONDO:0019682 congenital sialidosis type 2 skos:exactMatch MEDGEN:1843300 semapv:UnspecifiedMatching MONDO:0019682 congenital sialidosis type 2 skos:exactMatch Orphanet:93400 Congenital sialidosis type 2 semapv:UnspecifiedMatching MONDO:0019682 congenital sialidosis type 2 skos:exactMatch SCTID:27642008 semapv:UnspecifiedMatching MONDO:0019682 congenital sialidosis type 2 skos:exactMatch UMLS:C5681599 semapv:UnspecifiedMatching MONDO:0019682 congenital sialidosis type 2 skos:exactMatch icd11.foundation:1994237121 Congenital sialidosis type 2 semapv:UnspecifiedMatching MONDO:0019684 obsolete rare bone disease skos:exactMatch Orphanet:93419 Rare bone disease semapv:UnspecifiedMatching MONDO:0019685 FGFR3-related chondrodysplasia skos:exactMatch MEDGEN:1842866 semapv:UnspecifiedMatching MONDO:0019685 FGFR3-related chondrodysplasia skos:exactMatch Orphanet:93420 FGFR3-related chondrodysplasia semapv:UnspecifiedMatching MONDO:0019685 FGFR3-related chondrodysplasia skos:exactMatch UMLS:C5681604 semapv:UnspecifiedMatching MONDO:0019688 obsolete sulfation-related bone disorder skos:exactMatch Orphanet:93423 Sulfation-related bone disorder semapv:UnspecifiedMatching MONDO:0019689 obsolete perlecan-related bone disorder skos:exactMatch Orphanet:93424 OBSOLETE: Perlecan-related bone disorder semapv:UnspecifiedMatching MONDO:0019690 filamin-related bone disorder skos:exactMatch MEDGEN:1842239 semapv:UnspecifiedMatching MONDO:0019690 filamin-related bone disorder skos:exactMatch Orphanet:93425 Filamin-related bone disorder semapv:UnspecifiedMatching MONDO:0019690 filamin-related bone disorder skos:exactMatch UMLS:C5680280 semapv:UnspecifiedMatching MONDO:0019691 short rib dysplasia skos:exactMatch MEDGEN:609403 semapv:UnspecifiedMatching MONDO:0019691 short rib dysplasia skos:exactMatch Orphanet:93426 Ciliopathies with major skeletal involvement semapv:UnspecifiedMatching MONDO:0019691 short rib dysplasia skos:exactMatch SCTID:254050009 semapv:UnspecifiedMatching MONDO:0019691 short rib dysplasia skos:exactMatch UMLS:C0432195 semapv:UnspecifiedMatching MONDO:0019692 obsolete multiple epiphyseal dysplasia and pseudoachondroplasia skos:exactMatch Orphanet:93429 Multiple epiphyseal dysplasia and pseudoachondroplasia semapv:UnspecifiedMatching MONDO:0019692 obsolete multiple epiphyseal dysplasia and pseudoachondroplasia skos:exactMatch icd11.foundation:2078345611 Multiple epiphyseal dysplasia or pseudoachondroplasia semapv:UnspecifiedMatching MONDO:0019693 obsolete multiple metaphyseal dysplasia skos:exactMatch Orphanet:93430 Multiple metaphyseal dysplasia semapv:UnspecifiedMatching MONDO:0019693 obsolete multiple metaphyseal dysplasia skos:exactMatch icd11.foundation:717143930 Multiple metaphyseal dysplasias semapv:UnspecifiedMatching MONDO:0019694 spondylodysplastic dysplasia skos:exactMatch MEDGEN:1843363 semapv:UnspecifiedMatching MONDO:0019694 spondylodysplastic dysplasia skos:exactMatch Orphanet:93434 Spondylodysplastic dysplasia semapv:UnspecifiedMatching MONDO:0019694 spondylodysplastic dysplasia skos:exactMatch UMLS:C4736216 semapv:UnspecifiedMatching MONDO:0019694 spondylodysplastic dysplasia skos:exactMatch icd11.foundation:329165933 Spondylodysplastic dysplasias semapv:UnspecifiedMatching MONDO:0019695 acromelic dysplasia skos:exactMatch MEDGEN:1843369 semapv:UnspecifiedMatching MONDO:0019695 acromelic dysplasia skos:exactMatch Orphanet:93436 Acromelic dysplasia semapv:UnspecifiedMatching MONDO:0019695 acromelic dysplasia skos:exactMatch UMLS:C4736195 semapv:UnspecifiedMatching MONDO:0019695 acromelic dysplasia skos:exactMatch icd11.foundation:177141175 Acromelic dysplasias semapv:UnspecifiedMatching MONDO:0019696 acromesomelic dysplasia skos:exactMatch DOID:0080049 acromesomelic dysplasia semapv:UnspecifiedMatching MONDO:0019696 acromesomelic dysplasia skos:exactMatch MEDGEN:1710812 semapv:UnspecifiedMatching MONDO:0019696 acromesomelic dysplasia skos:exactMatch OMIMPS:602875 Acromesomelic dysplasia semapv:UnspecifiedMatching MONDO:0019696 acromesomelic dysplasia skos:exactMatch Orphanet:93437 Acromesomelic dysplasia semapv:UnspecifiedMatching MONDO:0019696 acromesomelic dysplasia skos:exactMatch UMLS:C5235036 semapv:UnspecifiedMatching MONDO:0019696 acromesomelic dysplasia skos:exactMatch icd11.foundation:2002361676 Acromesomelic dysplasias semapv:UnspecifiedMatching MONDO:0019696 acromesomelic dysplasia skos:exactMatch mesh:C535658 semapv:UnspecifiedMatching MONDO:0019697 obsolete mesomelic and rhizo-mesomelic dysplasia skos:exactMatch Orphanet:93438 Mesomelic and rhizo-mesomelic dysplasia semapv:UnspecifiedMatching MONDO:0019697 obsolete mesomelic and rhizo-mesomelic dysplasia skos:exactMatch icd11.foundation:533702276 Mesomelic or rhizomesomelic dysplasias semapv:UnspecifiedMatching MONDO:0019698 bent bone dysplasia skos:exactMatch MEDGEN:609415 semapv:UnspecifiedMatching MONDO:0019698 bent bone dysplasia skos:exactMatch Orphanet:93439 Campomelic dysplasia and related disorders semapv:UnspecifiedMatching MONDO:0019698 bent bone dysplasia skos:exactMatch SCTID:254095002 semapv:UnspecifiedMatching MONDO:0019698 bent bone dysplasia skos:exactMatch UMLS:C0432238 semapv:UnspecifiedMatching MONDO:0019699 obsolete slender bone dysplasia skos:exactMatch Orphanet:93440 Slender bone dysplasia semapv:UnspecifiedMatching MONDO:0019699 obsolete slender bone dysplasia skos:exactMatch icd11.foundation:691657602 Slender bone dysplasias semapv:UnspecifiedMatching MONDO:0019701 chondrodysplasia punctata skos:exactMatch DOID:2581 chondrodysplasia punctata semapv:UnspecifiedMatching MONDO:0019701 chondrodysplasia punctata skos:exactMatch ICD10CM:Q77.3 Chondrodysplasia punctata semapv:UnspecifiedMatching MONDO:0019701 chondrodysplasia punctata skos:exactMatch MEDGEN:3052 semapv:UnspecifiedMatching MONDO:0019701 chondrodysplasia punctata skos:exactMatch NCIT:C84632 Chondrodysplasia Punctata semapv:UnspecifiedMatching MONDO:0019701 chondrodysplasia punctata skos:exactMatch Orphanet:93442 Chondrodysplasia punctata semapv:UnspecifiedMatching MONDO:0019701 chondrodysplasia punctata skos:exactMatch SCTID:360507004 semapv:UnspecifiedMatching MONDO:0019701 chondrodysplasia punctata skos:exactMatch UMLS:C0008445 semapv:UnspecifiedMatching MONDO:0019701 chondrodysplasia punctata skos:exactMatch icd11.foundation:1923035846 Chondrodysplasia punctata semapv:UnspecifiedMatching MONDO:0019701 chondrodysplasia punctata skos:exactMatch mesh:D002806 semapv:UnspecifiedMatching MONDO:0019702 neonatal osteosclerotic dysplasia skos:exactMatch MEDGEN:721998 semapv:UnspecifiedMatching MONDO:0019702 neonatal osteosclerotic dysplasia skos:exactMatch Orphanet:93443 Neonatal osteosclerotic dysplasia semapv:UnspecifiedMatching MONDO:0019702 neonatal osteosclerotic dysplasia skos:exactMatch SCTID:389236000 semapv:UnspecifiedMatching MONDO:0019702 neonatal osteosclerotic dysplasia skos:exactMatch UMLS:C1300205 semapv:UnspecifiedMatching MONDO:0019704 obsolete primary bone dysplasia with decreased bone density skos:exactMatch Orphanet:93446 Primary bone dysplasia with decreased bone density semapv:UnspecifiedMatching MONDO:0019705 obsolete primary bone dysplasia with defective bone mineralization skos:exactMatch Orphanet:93447 Primary bone dysplasia with defective bone mineralization semapv:UnspecifiedMatching MONDO:0019707 primary osteolysis skos:exactMatch MEDGEN:1843089 semapv:UnspecifiedMatching MONDO:0019707 primary osteolysis skos:exactMatch Orphanet:93449 Primary osteolysis semapv:UnspecifiedMatching MONDO:0019707 primary osteolysis skos:exactMatch UMLS:C5559806 semapv:UnspecifiedMatching MONDO:0019707 primary osteolysis skos:exactMatch icd11.foundation:285636466 Primary osteolysis semapv:UnspecifiedMatching MONDO:0019709 obsolete cleidocranial dysplasia and isolated cranial ossification defect skos:exactMatch Orphanet:93451 Cleidocranial dysplasia and isolated cranial ossification defect semapv:UnspecifiedMatching MONDO:0019711 obsolete dysostosis with predominant vertebral and costal involvement skos:exactMatch Orphanet:93454 Dysostosis with predominant vertebral and costal involvement semapv:UnspecifiedMatching MONDO:0019711 obsolete dysostosis with predominant vertebral and costal involvement skos:exactMatch icd11.foundation:395969787 Dysostoses with predominant vertebral and costal involvement semapv:UnspecifiedMatching MONDO:0019712 obsolete patellar dysostosis skos:exactMatch Orphanet:93455 Patellar dysostosis semapv:UnspecifiedMatching MONDO:0019713 non-syndromic limb reduction defect skos:exactMatch MEDGEN:1842256 semapv:UnspecifiedMatching MONDO:0019713 non-syndromic limb reduction defect skos:exactMatch Orphanet:93457 Non-syndromic limb reduction defect semapv:UnspecifiedMatching MONDO:0019713 non-syndromic limb reduction defect skos:exactMatch UMLS:C5680277 semapv:UnspecifiedMatching MONDO:0019714 obsolete non-syndromic polydactyly, syndactyly and/or hyperphalangy skos:exactMatch Orphanet:93458 Non-syndromic polydactyly, syndactyly and/or hyperphalangy semapv:UnspecifiedMatching MONDO:0019716 overgrowth syndrome skos:exactMatch MEDGEN:458929 semapv:UnspecifiedMatching MONDO:0019716 overgrowth syndrome skos:exactMatch NCIT:C94828 Overgrowth Syndrome semapv:UnspecifiedMatching MONDO:0019716 overgrowth syndrome skos:exactMatch Orphanet:93460 Overgrowth syndrome semapv:UnspecifiedMatching MONDO:0019716 overgrowth syndrome skos:exactMatch UMLS:C2986703 semapv:UnspecifiedMatching MONDO:0019716 overgrowth syndrome skos:exactMatch icd11.foundation:2113355045 Overgrowth syndromes semapv:UnspecifiedMatching MONDO:0019717 obsolete chromosomal disease with overgrowth skos:exactMatch Orphanet:93461 Chromosomal disease with overgrowth semapv:UnspecifiedMatching MONDO:0019718 obsolete lethal chondrodysplasia skos:exactMatch Orphanet:93465 Lethal chondrodysplasia semapv:UnspecifiedMatching MONDO:0019719 congenital anomaly of kidney and urinary tract skos:exactMatch DOID:0080205 CAKUT semapv:UnspecifiedMatching MONDO:0019719 congenital anomaly of kidney and urinary tract skos:exactMatch MEDGEN:369894 semapv:UnspecifiedMatching MONDO:0019719 congenital anomaly of kidney and urinary tract skos:exactMatch OMIMPS:610805 Congenital anomalies of kidney and urinary tract semapv:UnspecifiedMatching MONDO:0019719 congenital anomaly of kidney and urinary tract skos:exactMatch Orphanet:93545 Renal or urinary tract malformation semapv:UnspecifiedMatching MONDO:0019719 congenital anomaly of kidney and urinary tract skos:exactMatch UMLS:C1968949 semapv:UnspecifiedMatching MONDO:0019719 congenital anomaly of kidney and urinary tract skos:exactMatch mesh:C566906 semapv:UnspecifiedMatching MONDO:0019720 obsolete non-syndromic renal or urinary tract malformation skos:exactMatch Orphanet:93546 Non-syndromic renal or urinary tract malformation semapv:UnspecifiedMatching MONDO:0019721 obsolete syndromic renal or urinary tract malformation skos:exactMatch Orphanet:93547 Syndromic renal or urinary tract malformation semapv:UnspecifiedMatching MONDO:0019722 glomerular disorder skos:exactMatch EFO:1002049 semapv:UnspecifiedMatching MONDO:0019722 glomerular disorder skos:exactMatch ICD10CM:N00-N08 Glomerular diseases (N00-N08) semapv:UnspecifiedMatching MONDO:0019722 glomerular disorder skos:exactMatch MEDGEN:451033 semapv:UnspecifiedMatching MONDO:0019722 glomerular disorder skos:exactMatch NCIT:C120887 Glomerulopathy semapv:UnspecifiedMatching MONDO:0019722 glomerular disorder skos:exactMatch Orphanet:93548 Glomerular disease semapv:UnspecifiedMatching MONDO:0019722 glomerular disorder skos:exactMatch SCTID:197679002 semapv:UnspecifiedMatching MONDO:0019722 glomerular disorder skos:exactMatch UMLS:C0268731 semapv:UnspecifiedMatching MONDO:0019723 obsolete disease of glomerular basement membrane skos:exactMatch Orphanet:93550 OBSOLETE: Basement membrane disease semapv:UnspecifiedMatching MONDO:0019724 obsolete secondary glomerular disease skos:exactMatch Orphanet:93551 OBSOLETE: Secondary glomerular disease semapv:UnspecifiedMatching MONDO:0019725 pediatric systemic lupus erythematosus skos:exactMatch MEDGEN:698153 semapv:UnspecifiedMatching MONDO:0019725 pediatric systemic lupus erythematosus skos:exactMatch Orphanet:93552 Pediatric systemic lupus erythematosus semapv:UnspecifiedMatching MONDO:0019725 pediatric systemic lupus erythematosus skos:exactMatch UMLS:C1274834 semapv:UnspecifiedMatching MONDO:0019726 type II mixed cryoglobulinemia skos:exactMatch MEDGEN:1842376 semapv:UnspecifiedMatching MONDO:0019726 type II mixed cryoglobulinemia skos:exactMatch Orphanet:93554 Mixed cryoglobulinemia type II semapv:UnspecifiedMatching MONDO:0019726 type II mixed cryoglobulinemia skos:exactMatch UMLS:C5680264 semapv:UnspecifiedMatching MONDO:0019727 mixed cryoglobulinemia type III skos:exactMatch MEDGEN:1843066 semapv:UnspecifiedMatching MONDO:0019727 mixed cryoglobulinemia type III skos:exactMatch Orphanet:93555 Mixed cryoglobulinemia type III semapv:UnspecifiedMatching MONDO:0019727 mixed cryoglobulinemia type III skos:exactMatch UMLS:C5680263 semapv:UnspecifiedMatching MONDO:0019728 heavy chain deposition disease skos:exactMatch MEDGEN:232591 semapv:UnspecifiedMatching MONDO:0019728 heavy chain deposition disease skos:exactMatch NCIT:C7339 Heavy Chain Deposition Disease semapv:UnspecifiedMatching MONDO:0019728 heavy chain deposition disease skos:exactMatch Orphanet:93556 Heavy chain deposition disease semapv:UnspecifiedMatching MONDO:0019728 heavy chain deposition disease skos:exactMatch UMLS:C1333947 semapv:UnspecifiedMatching MONDO:0019728 heavy chain deposition disease skos:exactMatch icd11.foundation:2018948190 Heavy chain deposition disease semapv:UnspecifiedMatching MONDO:0019729 light and heavy chain deposition disease skos:exactMatch MEDGEN:1684811 semapv:UnspecifiedMatching MONDO:0019729 light and heavy chain deposition disease skos:exactMatch NCIT:C158965 Light and Heavy Chain Deposition Disease semapv:UnspecifiedMatching MONDO:0019729 light and heavy chain deposition disease skos:exactMatch Orphanet:93557 Light and heavy chain deposition disease semapv:UnspecifiedMatching MONDO:0019729 light and heavy chain deposition disease skos:exactMatch UMLS:C5204117 semapv:UnspecifiedMatching MONDO:0019729 light and heavy chain deposition disease skos:exactMatch icd11.foundation:1815409370 Light and heavy chain deposition disease semapv:UnspecifiedMatching MONDO:0019730 light chain deposition disease skos:exactMatch MEDGEN:65953 semapv:UnspecifiedMatching MONDO:0019730 light chain deposition disease skos:exactMatch NCIT:C7727 Light Chain Deposition Disease semapv:UnspecifiedMatching MONDO:0019730 light chain deposition disease skos:exactMatch Orphanet:93558 Light chain deposition disease semapv:UnspecifiedMatching MONDO:0019730 light chain deposition disease skos:exactMatch SCTID:373604002 semapv:UnspecifiedMatching MONDO:0019730 light chain deposition disease skos:exactMatch UMLS:C0238239 semapv:UnspecifiedMatching MONDO:0019730 light chain deposition disease skos:exactMatch icd11.foundation:1612001446 Light chain deposition disease semapv:UnspecifiedMatching MONDO:0019731 AApoAI amyloidosis skos:exactMatch MEDGEN:1842920 semapv:UnspecifiedMatching MONDO:0019731 AApoAI amyloidosis skos:exactMatch Orphanet:93560 AApoAI amyloidosis semapv:UnspecifiedMatching MONDO:0019731 AApoAI amyloidosis skos:exactMatch UMLS:C5680269 semapv:UnspecifiedMatching MONDO:0019732 ALys amyloidosis skos:exactMatch MEDGEN:1842307 semapv:UnspecifiedMatching MONDO:0019732 ALys amyloidosis skos:exactMatch Orphanet:93561 ALys amyloidosis semapv:UnspecifiedMatching MONDO:0019732 ALys amyloidosis skos:exactMatch UMLS:C5680270 semapv:UnspecifiedMatching MONDO:0019732 ALys amyloidosis skos:exactMatch icd11.foundation:831687561 ALys amyloidosis semapv:UnspecifiedMatching MONDO:0019733 AFib amyloidosis skos:exactMatch MEDGEN:1826152 semapv:UnspecifiedMatching MONDO:0019733 AFib amyloidosis skos:exactMatch Orphanet:93562 AFib amyloidosis semapv:UnspecifiedMatching MONDO:0019733 AFib amyloidosis skos:exactMatch UMLS:C5680267 semapv:UnspecifiedMatching MONDO:0019733 AFib amyloidosis skos:exactMatch icd11.foundation:141110588 AFib amyloidosis semapv:UnspecifiedMatching MONDO:0019734 juvenile polymyositis skos:exactMatch EFO:1001988 semapv:UnspecifiedMatching MONDO:0019734 juvenile polymyositis skos:exactMatch MEDGEN:819736 semapv:UnspecifiedMatching MONDO:0019734 juvenile polymyositis skos:exactMatch NCIT:C114358 Juvenile Polymyositis semapv:UnspecifiedMatching MONDO:0019734 juvenile polymyositis skos:exactMatch Orphanet:93568 Juvenile polymyositis semapv:UnspecifiedMatching MONDO:0019734 juvenile polymyositis skos:exactMatch SCTID:738526005 semapv:UnspecifiedMatching MONDO:0019734 juvenile polymyositis skos:exactMatch UMLS:C3826988 semapv:UnspecifiedMatching MONDO:0019734 juvenile polymyositis skos:exactMatch icd11.foundation:633330307 Juvenile polymyositis semapv:UnspecifiedMatching MONDO:0019735 polymyalgia rheumatica skos:exactMatch DOID:853 polymyalgia rheumatica semapv:UnspecifiedMatching MONDO:0019735 polymyalgia rheumatica skos:exactMatch EFO:0008518 semapv:UnspecifiedMatching MONDO:0019735 polymyalgia rheumatica skos:exactMatch ICD10CM:M35.3 Polymyalgia rheumatica semapv:UnspecifiedMatching MONDO:0019735 polymyalgia rheumatica skos:exactMatch MEDGEN:19393 semapv:UnspecifiedMatching MONDO:0019735 polymyalgia rheumatica skos:exactMatch NCIT:C85018 Polymyalgia Rheumatica semapv:UnspecifiedMatching MONDO:0019735 polymyalgia rheumatica skos:exactMatch SCTID:65323003 semapv:UnspecifiedMatching MONDO:0019735 polymyalgia rheumatica skos:exactMatch UMLS:C0032533 semapv:UnspecifiedMatching MONDO:0019735 polymyalgia rheumatica skos:exactMatch icd11.foundation:103940897 Polymyalgia rheumatica semapv:UnspecifiedMatching MONDO:0019735 polymyalgia rheumatica skos:exactMatch mesh:D011111 semapv:UnspecifiedMatching MONDO:0019736 dense deposit disease skos:exactMatch MEDGEN:124345 semapv:UnspecifiedMatching MONDO:0019736 dense deposit disease skos:exactMatch NCIT:C123039 Dense Deposit Disease semapv:UnspecifiedMatching MONDO:0019736 dense deposit disease skos:exactMatch Orphanet:93571 Dense deposit disease semapv:UnspecifiedMatching MONDO:0019736 dense deposit disease skos:exactMatch SCTID:722760002 semapv:UnspecifiedMatching MONDO:0019736 dense deposit disease skos:exactMatch UMLS:C0268743 semapv:UnspecifiedMatching MONDO:0019737 thrombotic microangiopathy skos:exactMatch ICD10CM:M31.1 Thrombotic microangiopathy semapv:UnspecifiedMatching MONDO:0019737 thrombotic microangiopathy skos:exactMatch MEDGEN:403479 semapv:UnspecifiedMatching MONDO:0019737 thrombotic microangiopathy skos:exactMatch NCIT:C62605 Thrombotic Microangiopathy semapv:UnspecifiedMatching MONDO:0019737 thrombotic microangiopathy skos:exactMatch Orphanet:93573 Thrombotic microangiopathy semapv:UnspecifiedMatching MONDO:0019737 thrombotic microangiopathy skos:exactMatch SCTID:126729006 semapv:UnspecifiedMatching MONDO:0019737 thrombotic microangiopathy skos:exactMatch UMLS:C2717961 semapv:UnspecifiedMatching MONDO:0019737 thrombotic microangiopathy skos:exactMatch mesh:D057049 semapv:UnspecifiedMatching MONDO:0019739 atypical hemolytic-uremic syndrome with anti-factor H antibodies skos:exactMatch MEDGEN:1825998 semapv:UnspecifiedMatching MONDO:0019739 atypical hemolytic-uremic syndrome with anti-factor H antibodies skos:exactMatch Orphanet:93581 Atypical hemolytic uremic syndrome with anti-factor H antibodies semapv:UnspecifiedMatching MONDO:0019739 atypical hemolytic-uremic syndrome with anti-factor H antibodies skos:exactMatch UMLS:C5680286 semapv:UnspecifiedMatching MONDO:0019740 acquired thrombotic thrombocytopenic purpura skos:exactMatch MEDGEN:391723 semapv:UnspecifiedMatching MONDO:0019740 acquired thrombotic thrombocytopenic purpura skos:exactMatch NCIT:C131653 Acquired Thrombotic Thrombocytopenic Purpura semapv:UnspecifiedMatching MONDO:0019740 acquired thrombotic thrombocytopenic purpura skos:exactMatch Orphanet:93585 Immune-mediated thrombotic thrombocytopenic purpura semapv:UnspecifiedMatching MONDO:0019740 acquired thrombotic thrombocytopenic purpura skos:exactMatch SCTID:438476003 semapv:UnspecifiedMatching MONDO:0019740 acquired thrombotic thrombocytopenic purpura skos:exactMatch UMLS:C2584778 semapv:UnspecifiedMatching MONDO:0019740 acquired thrombotic thrombocytopenic purpura skos:exactMatch mesh:C536901 semapv:UnspecifiedMatching MONDO:0019741 familial cystic renal disease skos:exactMatch MEDGEN:1842297 semapv:UnspecifiedMatching MONDO:0019741 familial cystic renal disease skos:exactMatch Orphanet:93587 Genetic cystic renal disease semapv:UnspecifiedMatching MONDO:0019741 familial cystic renal disease skos:exactMatch UMLS:C5680285 semapv:UnspecifiedMatching MONDO:0019742 late-onset nephronophthisis skos:exactMatch MEDGEN:1842314 semapv:UnspecifiedMatching MONDO:0019742 late-onset nephronophthisis skos:exactMatch Orphanet:93589 Late-onset nephronophthisis semapv:UnspecifiedMatching MONDO:0019742 late-onset nephronophthisis skos:exactMatch UMLS:C5681620 semapv:UnspecifiedMatching MONDO:0019743 obsolete nephropathy secondary to a storage or other metabolic disease skos:exactMatch Orphanet:93593 Nephropathy secondary to a storage or other metabolic disease semapv:UnspecifiedMatching MONDO:0019744 obsolete rare renal tubular disease skos:exactMatch Orphanet:93603 Rare renal tubular disease semapv:UnspecifiedMatching MONDO:0019745 cystinuria type A skos:exactMatch MEDGEN:347441 semapv:UnspecifiedMatching MONDO:0019745 cystinuria type A skos:exactMatch Orphanet:93612 Cystinuria type A semapv:UnspecifiedMatching MONDO:0019745 cystinuria type A skos:exactMatch UMLS:C1857388 semapv:UnspecifiedMatching MONDO:0019745 cystinuria type A skos:exactMatch icd11.foundation:1172657361 Cystinuria type A semapv:UnspecifiedMatching MONDO:0019745 cystinuria type A skos:exactMatch mesh:C565652 semapv:UnspecifiedMatching MONDO:0019746 cystinuria type B skos:exactMatch MEDGEN:347442 semapv:UnspecifiedMatching MONDO:0019746 cystinuria type B skos:exactMatch Orphanet:93613 Cystinuria type B semapv:UnspecifiedMatching MONDO:0019746 cystinuria type B skos:exactMatch UMLS:C1857389 semapv:UnspecifiedMatching MONDO:0019746 cystinuria type B skos:exactMatch icd11.foundation:491796307 Cystinuria type B semapv:UnspecifiedMatching MONDO:0019747 obsolete hematological disorder with renal involvement skos:exactMatch Orphanet:93614 Hematological disorder with renal involvement semapv:UnspecifiedMatching MONDO:0019748 obsolete rare cause of hypertension skos:exactMatch Orphanet:93618 Rare cause of hypertension semapv:UnspecifiedMatching MONDO:0019749 obsolete rare renal tumor skos:exactMatch Orphanet:93619 Rare renal tumor semapv:UnspecifiedMatching MONDO:0019750 obsolete rare renal disease skos:exactMatch Orphanet:93626 Rare renal disease semapv:UnspecifiedMatching MONDO:0019751 autoinflammatory syndrome skos:exactMatch DOID:0051000 autoinflammatory disease semapv:UnspecifiedMatching MONDO:0019751 autoinflammatory syndrome skos:exactMatch ICD10CM:M04-M04 Autoinflammatory syndromes (M04) semapv:UnspecifiedMatching MONDO:0019751 autoinflammatory syndrome skos:exactMatch MEDGEN:855741 semapv:UnspecifiedMatching MONDO:0019751 autoinflammatory syndrome skos:exactMatch NCIT:C119050 Autoinflammatory Syndrome semapv:UnspecifiedMatching MONDO:0019751 autoinflammatory syndrome skos:exactMatch Orphanet:93665 Autoinflammatory syndrome semapv:UnspecifiedMatching MONDO:0019751 autoinflammatory syndrome skos:exactMatch UMLS:C3890737 semapv:UnspecifiedMatching MONDO:0019753 localized Castleman disease skos:exactMatch MEDGEN:858176 semapv:UnspecifiedMatching MONDO:0019753 localized Castleman disease skos:exactMatch NCIT:C115200 Unicentric Castleman Disease semapv:UnspecifiedMatching MONDO:0019753 localized Castleman disease skos:exactMatch Orphanet:93685 Unicentric Castleman disease semapv:UnspecifiedMatching MONDO:0019753 localized Castleman disease skos:exactMatch UMLS:C3898582 semapv:UnspecifiedMatching MONDO:0019754 multicentric Castleman disease skos:exactMatch DOID:0111152 multicentric Castleman disease semapv:UnspecifiedMatching MONDO:0019754 multicentric Castleman disease skos:exactMatch MEDGEN:233197 semapv:UnspecifiedMatching MONDO:0019754 multicentric Castleman disease skos:exactMatch NCIT:C27855 Multicentric Castleman Disease semapv:UnspecifiedMatching MONDO:0019754 multicentric Castleman disease skos:exactMatch Orphanet:570438 HHV-8-associated multicentric Castleman disease semapv:UnspecifiedMatching MONDO:0019754 multicentric Castleman disease skos:exactMatch UMLS:C1334815 semapv:UnspecifiedMatching MONDO:0019754 multicentric Castleman disease skos:exactMatch icd11.foundation:1590444463 Multicentric Castleman disease semapv:UnspecifiedMatching MONDO:0019755 developmental defect during embryogenesis skos:exactMatch MEDGEN:1825997 semapv:UnspecifiedMatching MONDO:0019755 developmental defect during embryogenesis skos:exactMatch NCIT:C99267 Congenital Malformation Syndrome semapv:UnspecifiedMatching MONDO:0019755 developmental defect during embryogenesis skos:exactMatch Orphanet:93890 Rare developmental defect during embryogenesis semapv:UnspecifiedMatching MONDO:0019755 developmental defect during embryogenesis skos:exactMatch SCTID:400038003 semapv:UnspecifiedMatching MONDO:0019755 developmental defect during embryogenesis skos:exactMatch UMLS:C5680284 semapv:UnspecifiedMatching MONDO:0019756 lobar holoprosencephaly skos:exactMatch MEDGEN:96559 semapv:UnspecifiedMatching MONDO:0019756 lobar holoprosencephaly skos:exactMatch Orphanet:93924 Lobar holoprosencephaly semapv:UnspecifiedMatching MONDO:0019756 lobar holoprosencephaly skos:exactMatch SCTID:253136007 semapv:UnspecifiedMatching MONDO:0019756 lobar holoprosencephaly skos:exactMatch UMLS:C0431362 semapv:UnspecifiedMatching MONDO:0019756 lobar holoprosencephaly skos:exactMatch icd11.foundation:121649206 Lobar holoprosencephaly semapv:UnspecifiedMatching MONDO:0019757 alobar holoprosencephaly skos:exactMatch MEDGEN:140909 semapv:UnspecifiedMatching MONDO:0019757 alobar holoprosencephaly skos:exactMatch Orphanet:93925 Alobar holoprosencephaly semapv:UnspecifiedMatching MONDO:0019757 alobar holoprosencephaly skos:exactMatch SCTID:253137003 semapv:UnspecifiedMatching MONDO:0019757 alobar holoprosencephaly skos:exactMatch UMLS:C0431363 semapv:UnspecifiedMatching MONDO:0019757 alobar holoprosencephaly skos:exactMatch icd11.foundation:381193163 Alobar holoprosencephaly semapv:UnspecifiedMatching MONDO:0019758 obsolete midline interhemispheric variant of holoprosencephaly skos:exactMatch Orphanet:93926 Midline interhemispheric variant of holoprosencephaly semapv:UnspecifiedMatching MONDO:0019759 epispadias skos:exactMatch ICD10CM:Q64.0 Epispadias semapv:UnspecifiedMatching MONDO:0019759 epispadias skos:exactMatch MEDGEN:41839 semapv:UnspecifiedMatching MONDO:0019759 epispadias skos:exactMatch NCIT:C98923 Epispadias semapv:UnspecifiedMatching MONDO:0019759 epispadias skos:exactMatch Orphanet:93928 Isolated epispadias semapv:UnspecifiedMatching MONDO:0019759 epispadias skos:exactMatch SCTID:406476007 semapv:UnspecifiedMatching MONDO:0019759 epispadias skos:exactMatch UMLS:C0014588 semapv:UnspecifiedMatching MONDO:0019759 epispadias skos:exactMatch icd11.foundation:397402420 Epispadias semapv:UnspecifiedMatching MONDO:0019759 epispadias skos:exactMatch mesh:D004842 semapv:UnspecifiedMatching MONDO:0019760 terminal transverse defects of arm skos:exactMatch MEDGEN:341800 semapv:UnspecifiedMatching MONDO:0019760 terminal transverse defects of arm skos:exactMatch UMLS:C1857578 semapv:UnspecifiedMatching MONDO:0019760 terminal transverse defects of arm skos:exactMatch mesh:C565681 semapv:UnspecifiedMatching MONDO:0019761 laryngotracheoesophageal cleft type 1 skos:exactMatch MEDGEN:667239 semapv:UnspecifiedMatching MONDO:0019761 laryngotracheoesophageal cleft type 1 skos:exactMatch Orphanet:93938 Laryngotracheoesophageal cleft type 1 semapv:UnspecifiedMatching MONDO:0019761 laryngotracheoesophageal cleft type 1 skos:exactMatch UMLS:C0584823 semapv:UnspecifiedMatching MONDO:0019762 laryngotracheoesophageal cleft type 2 skos:exactMatch MEDGEN:667240 semapv:UnspecifiedMatching MONDO:0019762 laryngotracheoesophageal cleft type 2 skos:exactMatch Orphanet:93939 Laryngotracheoesophageal cleft type 2 semapv:UnspecifiedMatching MONDO:0019762 laryngotracheoesophageal cleft type 2 skos:exactMatch UMLS:C0584824 semapv:UnspecifiedMatching MONDO:0019763 laryngotracheoesophageal cleft type 3 skos:exactMatch MEDGEN:667241 semapv:UnspecifiedMatching MONDO:0019763 laryngotracheoesophageal cleft type 3 skos:exactMatch Orphanet:93940 Laryngotracheoesophageal cleft type 3 semapv:UnspecifiedMatching MONDO:0019763 laryngotracheoesophageal cleft type 3 skos:exactMatch UMLS:C0584825 semapv:UnspecifiedMatching MONDO:0019764 laryngotracheoesophageal cleft type 4 skos:exactMatch MEDGEN:667243 semapv:UnspecifiedMatching MONDO:0019764 laryngotracheoesophageal cleft type 4 skos:exactMatch Orphanet:93941 Laryngotracheoesophageal cleft type 4 semapv:UnspecifiedMatching MONDO:0019764 laryngotracheoesophageal cleft type 4 skos:exactMatch UMLS:C0584827 semapv:UnspecifiedMatching MONDO:0019765 obsolete celosomia skos:exactMatch Orphanet:93942 OBSOLETE: Superior celosomia semapv:UnspecifiedMatching MONDO:0019765 obsolete celosomia skos:exactMatch SCTID:44518003 semapv:UnspecifiedMatching MONDO:0019766 X-linked intellectual disability, Porteous type skos:exactMatch MEDGEN:1842708 semapv:UnspecifiedMatching MONDO:0019766 X-linked intellectual disability, Porteous type skos:exactMatch Orphanet:93945 X-linked intellectual disability, Porteous type semapv:UnspecifiedMatching MONDO:0019766 X-linked intellectual disability, Porteous type skos:exactMatch UMLS:C5681616 semapv:UnspecifiedMatching MONDO:0019767 hamel cerebro-palato-cardiac syndrome skos:exactMatch MEDGEN:1842506 semapv:UnspecifiedMatching MONDO:0019767 hamel cerebro-palato-cardiac syndrome skos:exactMatch Orphanet:93946 Hamel cerebro-palato-cardiac syndrome semapv:UnspecifiedMatching MONDO:0019767 hamel cerebro-palato-cardiac syndrome skos:exactMatch UMLS:C5681615 semapv:UnspecifiedMatching MONDO:0019767 hamel cerebro-palato-cardiac syndrome skos:exactMatch icd11.foundation:1903143844 Hamel cerebro-palato-cardiac syndrome semapv:UnspecifiedMatching MONDO:0019768 X-linked intellectual disability, Golabi-Ito-hall type skos:exactMatch MEDGEN:1842639 semapv:UnspecifiedMatching MONDO:0019768 X-linked intellectual disability, Golabi-Ito-hall type skos:exactMatch Orphanet:93947 X-linked intellectual disability, Golabi-Ito-Hall type semapv:UnspecifiedMatching MONDO:0019768 X-linked intellectual disability, Golabi-Ito-hall type skos:exactMatch UMLS:C5681614 semapv:UnspecifiedMatching MONDO:0019769 X-linked intellectual disability, Sutherland-Haan type skos:exactMatch MEDGEN:1842836 semapv:UnspecifiedMatching MONDO:0019769 X-linked intellectual disability, Sutherland-Haan type skos:exactMatch Orphanet:93950 X-linked intellectual disability, Sutherland-Haan type semapv:UnspecifiedMatching MONDO:0019769 X-linked intellectual disability, Sutherland-Haan type skos:exactMatch UMLS:C5681613 semapv:UnspecifiedMatching MONDO:0019771 oromandibular dystonia skos:exactMatch DOID:0050843 oromandibular dystonia semapv:UnspecifiedMatching MONDO:0019771 oromandibular dystonia skos:exactMatch MEDGEN:473560 semapv:UnspecifiedMatching MONDO:0019771 oromandibular dystonia skos:exactMatch Orphanet:93958 Oromandibular dystonia semapv:UnspecifiedMatching MONDO:0019771 oromandibular dystonia skos:exactMatch UMLS:C2242577 semapv:UnspecifiedMatching MONDO:0019771 oromandibular dystonia skos:exactMatch icd11.foundation:749381409 Oromandibular dystonia semapv:UnspecifiedMatching MONDO:0019772 blepharospasm-oromandibular dystonia syndrome skos:exactMatch DOID:3982 Meige syndrome semapv:UnspecifiedMatching MONDO:0019772 blepharospasm-oromandibular dystonia syndrome skos:exactMatch MEDGEN:44341 semapv:UnspecifiedMatching MONDO:0019772 blepharospasm-oromandibular dystonia syndrome skos:exactMatch Orphanet:93964 Blepharospasm-oromandibular dystonia syndrome semapv:UnspecifiedMatching MONDO:0019772 blepharospasm-oromandibular dystonia syndrome skos:exactMatch SCTID:230325003 semapv:UnspecifiedMatching MONDO:0019772 blepharospasm-oromandibular dystonia syndrome skos:exactMatch UMLS:C0025183 semapv:UnspecifiedMatching MONDO:0019772 blepharospasm-oromandibular dystonia syndrome skos:exactMatch mesh:D008538 semapv:UnspecifiedMatching MONDO:0019773 myelomeningocele skos:exactMatch DOID:0060326 myelomeningocele semapv:UnspecifiedMatching MONDO:0019773 myelomeningocele skos:exactMatch MEDGEN:7538 semapv:UnspecifiedMatching MONDO:0019773 myelomeningocele skos:exactMatch Orphanet:93969 Open spinal dysraphism with a myelomeningocele semapv:UnspecifiedMatching MONDO:0019773 myelomeningocele skos:exactMatch SCTID:414667000 semapv:UnspecifiedMatching MONDO:0019773 myelomeningocele skos:exactMatch UMLS:C0025312 semapv:UnspecifiedMatching MONDO:0019773 myelomeningocele skos:exactMatch icd11.foundation:1200528084 Myelomeningocele semapv:UnspecifiedMatching MONDO:0019773 myelomeningocele skos:exactMatch mesh:D008591 semapv:UnspecifiedMatching MONDO:0019776 obsolete Juberg-Marsidi syndrome skos:exactMatch SCTID:721875000 semapv:UnspecifiedMatching MONDO:0019779 obsolete Renier-Gabreels-Jasper syndrome skos:exactMatch Orphanet:93975 OBSOLETE: Renier-Gabreels-Jasper syndrome semapv:UnspecifiedMatching MONDO:0019779 obsolete Renier-Gabreels-Jasper syndrome skos:exactMatch SCTID:723501008 semapv:UnspecifiedMatching MONDO:0019780 anotia skos:exactMatch MEDGEN:152377 semapv:UnspecifiedMatching MONDO:0019780 anotia skos:exactMatch Orphanet:93976 Anotia semapv:UnspecifiedMatching MONDO:0019780 anotia skos:exactMatch SCTID:57436000 semapv:UnspecifiedMatching MONDO:0019780 anotia skos:exactMatch UMLS:C0702139 semapv:UnspecifiedMatching MONDO:0019780 anotia skos:exactMatch icd11.foundation:2056675356 Anotia semapv:UnspecifiedMatching MONDO:0019781 astrocytoma (excluding glioblastoma) skos:exactMatch EFO:0000272 semapv:UnspecifiedMatching MONDO:0019781 astrocytoma (excluding glioblastoma) skos:exactMatch MEDGEN:438 semapv:UnspecifiedMatching MONDO:0019781 astrocytoma (excluding glioblastoma) skos:exactMatch NCIT:C60781 Astrocytoma semapv:UnspecifiedMatching MONDO:0019781 astrocytoma (excluding glioblastoma) skos:exactMatch SCTID:147101000119108 semapv:UnspecifiedMatching MONDO:0019781 astrocytoma (excluding glioblastoma) skos:exactMatch UMLS:C0004114 semapv:UnspecifiedMatching MONDO:0019781 astrocytoma (excluding glioblastoma) skos:exactMatch mesh:D001254 semapv:UnspecifiedMatching MONDO:0019782 humero-ulnar synostosis skos:exactMatch MEDGEN:451053 semapv:UnspecifiedMatching MONDO:0019782 humero-ulnar synostosis skos:exactMatch Orphanet:94056 Isolated humero-ulnar synostosis semapv:UnspecifiedMatching MONDO:0019782 humero-ulnar synostosis skos:exactMatch UMLS:C0431799 semapv:UnspecifiedMatching MONDO:0019782 humero-ulnar synostosis skos:exactMatch icd11.foundation:2144695561 Humero-ulnar synostosis semapv:UnspecifiedMatching MONDO:0019783 neovascular glaucoma skos:exactMatch DOID:1687 neovascular glaucoma semapv:UnspecifiedMatching MONDO:0019783 neovascular glaucoma skos:exactMatch EFO:1001060 semapv:UnspecifiedMatching MONDO:0019783 neovascular glaucoma skos:exactMatch MEDGEN:4898 semapv:UnspecifiedMatching MONDO:0019783 neovascular glaucoma skos:exactMatch Orphanet:94058 Neovascular glaucoma semapv:UnspecifiedMatching MONDO:0019783 neovascular glaucoma skos:exactMatch SCTID:232086000 semapv:UnspecifiedMatching MONDO:0019783 neovascular glaucoma skos:exactMatch UMLS:C0017609 semapv:UnspecifiedMatching MONDO:0019783 neovascular glaucoma skos:exactMatch icd11.foundation:700864997 Neovascular secondary angle closure glaucoma semapv:UnspecifiedMatching MONDO:0019783 neovascular glaucoma skos:exactMatch mesh:D015355 semapv:UnspecifiedMatching MONDO:0019784 12q14 microdeletion syndrome skos:exactMatch MEDGEN:930809 semapv:UnspecifiedMatching MONDO:0019784 12q14 microdeletion syndrome skos:exactMatch Orphanet:94063 12q14 microdeletion syndrome semapv:UnspecifiedMatching MONDO:0019784 12q14 microdeletion syndrome skos:exactMatch SCTID:719046005 semapv:UnspecifiedMatching MONDO:0019784 12q14 microdeletion syndrome skos:exactMatch UMLS:C4305140 semapv:UnspecifiedMatching MONDO:0019786 severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia skos:exactMatch MEDGEN:1372948 semapv:UnspecifiedMatching MONDO:0019786 severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia skos:exactMatch Orphanet:94066 Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia semapv:UnspecifiedMatching MONDO:0019786 severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia skos:exactMatch UMLS:C4510007 semapv:UnspecifiedMatching MONDO:0019787 autoimmune enteropathy skos:exactMatch MEDGEN:83322 semapv:UnspecifiedMatching MONDO:0019787 autoimmune enteropathy skos:exactMatch NCIT:C94694 Autoimmune Enteropathy semapv:UnspecifiedMatching MONDO:0019787 autoimmune enteropathy skos:exactMatch Orphanet:94075 Severe immune-mediated enteropathy semapv:UnspecifiedMatching MONDO:0019787 autoimmune enteropathy skos:exactMatch SCTID:235728001 semapv:UnspecifiedMatching MONDO:0019787 autoimmune enteropathy skos:exactMatch UMLS:C0341305 semapv:UnspecifiedMatching MONDO:0019787 autoimmune enteropathy skos:exactMatch mesh:C538273 semapv:UnspecifiedMatching MONDO:0019788 non-secreting paraganglioma skos:exactMatch MEDGEN:1634671 semapv:UnspecifiedMatching MONDO:0019788 non-secreting paraganglioma skos:exactMatch Orphanet:94080 Non-functioning paraganglioma semapv:UnspecifiedMatching MONDO:0019788 non-secreting paraganglioma skos:exactMatch SCTID:764999002 semapv:UnspecifiedMatching MONDO:0019788 non-secreting paraganglioma skos:exactMatch UMLS:C4707263 semapv:UnspecifiedMatching MONDO:0019789 cytophagic histiocytic panniculitis skos:exactMatch MEDGEN:590528 semapv:UnspecifiedMatching MONDO:0019789 cytophagic histiocytic panniculitis skos:exactMatch Orphanet:94087 Cytophagic histiocytic panniculitis semapv:UnspecifiedMatching MONDO:0019789 cytophagic histiocytic panniculitis skos:exactMatch SCTID:238883003 semapv:UnspecifiedMatching MONDO:0019789 cytophagic histiocytic panniculitis skos:exactMatch UMLS:C0406594 semapv:UnspecifiedMatching MONDO:0019789 cytophagic histiocytic panniculitis skos:exactMatch icd11.foundation:1978274002 Cytophagic histiocytic panniculitis semapv:UnspecifiedMatching MONDO:0019790 neuroleptic malignant syndrome skos:exactMatch DOID:14464 neuroleptic malignant syndrome semapv:UnspecifiedMatching MONDO:0019790 neuroleptic malignant syndrome skos:exactMatch EFO:1001379 semapv:UnspecifiedMatching MONDO:0019790 neuroleptic malignant syndrome skos:exactMatch ICD10CM:G21.0 Malignant neuroleptic syndrome semapv:UnspecifiedMatching MONDO:0019790 neuroleptic malignant syndrome skos:exactMatch MEDGEN:10320 semapv:UnspecifiedMatching MONDO:0019790 neuroleptic malignant syndrome skos:exactMatch NCIT:C94829 Neuroleptic Malignant Syndrome semapv:UnspecifiedMatching MONDO:0019790 neuroleptic malignant syndrome skos:exactMatch Orphanet:94093 Neuroleptic malignant syndrome semapv:UnspecifiedMatching MONDO:0019790 neuroleptic malignant syndrome skos:exactMatch SCTID:15244003 semapv:UnspecifiedMatching MONDO:0019790 neuroleptic malignant syndrome skos:exactMatch UMLS:C0027849 semapv:UnspecifiedMatching MONDO:0019790 neuroleptic malignant syndrome skos:exactMatch icd11.foundation:498240876 Neuroleptic malignant syndrome semapv:UnspecifiedMatching MONDO:0019790 neuroleptic malignant syndrome skos:exactMatch mesh:D009459 semapv:UnspecifiedMatching MONDO:0019791 recessive mitochondrial ataxia syndrome skos:exactMatch MEDGEN:1683676 semapv:UnspecifiedMatching MONDO:0019791 recessive mitochondrial ataxia syndrome skos:exactMatch Orphanet:94125 Recessive mitochondrial ataxia syndrome semapv:UnspecifiedMatching MONDO:0019791 recessive mitochondrial ataxia syndrome skos:exactMatch UMLS:C4760799 semapv:UnspecifiedMatching MONDO:0019792 autosomal dominant cerebellar ataxia type I skos:exactMatch MEDGEN:1842696 semapv:UnspecifiedMatching MONDO:0019792 autosomal dominant cerebellar ataxia type I skos:exactMatch Orphanet:94145 Autosomal dominant cerebellar ataxia type I semapv:UnspecifiedMatching MONDO:0019792 autosomal dominant cerebellar ataxia type I skos:exactMatch UMLS:C5680259 semapv:UnspecifiedMatching MONDO:0019793 autosomal dominant cerebellar ataxia type III skos:exactMatch MEDGEN:1842779 semapv:UnspecifiedMatching MONDO:0019793 autosomal dominant cerebellar ataxia type III skos:exactMatch Orphanet:94148 Autosomal dominant cerebellar ataxia type III semapv:UnspecifiedMatching MONDO:0019793 autosomal dominant cerebellar ataxia type III skos:exactMatch UMLS:C5680260 semapv:UnspecifiedMatching MONDO:0019794 autosomal dominant cerebellar ataxia type IV skos:exactMatch MEDGEN:1842584 semapv:UnspecifiedMatching MONDO:0019794 autosomal dominant cerebellar ataxia type IV skos:exactMatch Orphanet:94149 Autosomal dominant cerebellar ataxia type IV semapv:UnspecifiedMatching MONDO:0019794 autosomal dominant cerebellar ataxia type IV skos:exactMatch UMLS:C5680261 semapv:UnspecifiedMatching MONDO:0019795 acalvaria skos:exactMatch MEDGEN:418951 semapv:UnspecifiedMatching MONDO:0019795 acalvaria skos:exactMatch Orphanet:945 Acalvaria semapv:UnspecifiedMatching MONDO:0019795 acalvaria skos:exactMatch SCTID:203923004 semapv:UnspecifiedMatching MONDO:0019795 acalvaria skos:exactMatch UMLS:C2930936 semapv:UnspecifiedMatching MONDO:0019795 acalvaria skos:exactMatch icd11.foundation:1719021696 Acalvaria semapv:UnspecifiedMatching MONDO:0019795 acalvaria skos:exactMatch mesh:C535570 semapv:UnspecifiedMatching MONDO:0019796 acrocephalosyndactyly skos:exactMatch DOID:12960 acrocephalosyndactylia semapv:UnspecifiedMatching MONDO:0019796 acrocephalosyndactyly skos:exactMatch MEDGEN:267602 semapv:UnspecifiedMatching MONDO:0019796 acrocephalosyndactyly skos:exactMatch NCIT:C34348 Acrocephalosyndactyly semapv:UnspecifiedMatching MONDO:0019796 acrocephalosyndactyly skos:exactMatch SCTID:268262006 semapv:UnspecifiedMatching MONDO:0019796 acrocephalosyndactyly skos:exactMatch UMLS:C1510455 semapv:UnspecifiedMatching MONDO:0019797 acrodysostosis skos:exactMatch DOID:14669 acrodysostosis semapv:UnspecifiedMatching MONDO:0019797 acrodysostosis skos:exactMatch MEDGEN:113097 semapv:UnspecifiedMatching MONDO:0019797 acrodysostosis skos:exactMatch OMIMPS:101800 Acrodysostosis semapv:UnspecifiedMatching MONDO:0019797 acrodysostosis skos:exactMatch Orphanet:950 Acrodysostosis semapv:UnspecifiedMatching MONDO:0019797 acrodysostosis skos:exactMatch SCTID:66758006 semapv:UnspecifiedMatching MONDO:0019797 acrodysostosis skos:exactMatch UMLS:C0220659 semapv:UnspecifiedMatching MONDO:0019797 acrodysostosis skos:exactMatch icd11.foundation:477546932 Acrodysostosis semapv:UnspecifiedMatching MONDO:0019797 acrodysostosis skos:exactMatch mesh:C538179 semapv:UnspecifiedMatching MONDO:0019799 hepatoerythropoietic porphyria skos:exactMatch DOID:5230 hepatoerythropoietic porphyria semapv:UnspecifiedMatching MONDO:0019799 hepatoerythropoietic porphyria skos:exactMatch MEDGEN:57940 semapv:UnspecifiedMatching MONDO:0019799 hepatoerythropoietic porphyria skos:exactMatch NCIT:C84754 Hepatoerythropoietic Porphyria semapv:UnspecifiedMatching MONDO:0019799 hepatoerythropoietic porphyria skos:exactMatch Orphanet:95159 Hepatoerythropoietic porphyria semapv:UnspecifiedMatching MONDO:0019799 hepatoerythropoietic porphyria skos:exactMatch SCTID:111386004 semapv:UnspecifiedMatching MONDO:0019799 hepatoerythropoietic porphyria skos:exactMatch UMLS:C0162569 semapv:UnspecifiedMatching MONDO:0019799 hepatoerythropoietic porphyria skos:exactMatch icd11.foundation:214080046 Hepatoerythropoietic porphyria semapv:UnspecifiedMatching MONDO:0019799 hepatoerythropoietic porphyria skos:exactMatch mesh:D017121 semapv:UnspecifiedMatching MONDO:0019800 obsolete chronic hepatic porphyria skos:exactMatch Orphanet:95161 OBSOLETE: Chronic hepatic porphyria semapv:UnspecifiedMatching MONDO:0019801 acute adrenal insufficiency skos:exactMatch ICD10CM:E27.2 Addisonian crisis semapv:UnspecifiedMatching MONDO:0019801 acute adrenal insufficiency skos:exactMatch MEDGEN:56227 semapv:UnspecifiedMatching MONDO:0019801 acute adrenal insufficiency skos:exactMatch NCIT:C112840 Adrenal Crisis semapv:UnspecifiedMatching MONDO:0019801 acute adrenal insufficiency skos:exactMatch Orphanet:95409 Acute adrenal insufficiency semapv:UnspecifiedMatching MONDO:0019801 acute adrenal insufficiency skos:exactMatch SCTID:24867002 semapv:UnspecifiedMatching MONDO:0019801 acute adrenal insufficiency skos:exactMatch UMLS:C0151467 semapv:UnspecifiedMatching MONDO:0019801 acute adrenal insufficiency skos:exactMatch icd11.foundation:114442391 Adrenal crisis semapv:UnspecifiedMatching MONDO:0019802 secondary short bowel syndrome skos:exactMatch MEDGEN:1842747 semapv:UnspecifiedMatching MONDO:0019802 secondary short bowel syndrome skos:exactMatch Orphanet:95427 Secondary short bowel syndrome semapv:UnspecifiedMatching MONDO:0019802 secondary short bowel syndrome skos:exactMatch UMLS:C5681579 semapv:UnspecifiedMatching MONDO:0019803 angioma serpiginosum skos:exactMatch DOID:4028 angioma serpiginosum semapv:UnspecifiedMatching MONDO:0019803 angioma serpiginosum skos:exactMatch MEDGEN:75528 semapv:UnspecifiedMatching MONDO:0019803 angioma serpiginosum skos:exactMatch NCIT:C3926 Angioma Serpiginosum semapv:UnspecifiedMatching MONDO:0019803 angioma serpiginosum skos:exactMatch Orphanet:95429 Angioma serpiginosum semapv:UnspecifiedMatching MONDO:0019803 angioma serpiginosum skos:exactMatch SCTID:49465005 semapv:UnspecifiedMatching MONDO:0019803 angioma serpiginosum skos:exactMatch UMLS:C0263637 semapv:UnspecifiedMatching MONDO:0019803 angioma serpiginosum skos:exactMatch icd11.foundation:1724787481 Angioma serpiginosum semapv:UnspecifiedMatching MONDO:0019804 congenital tracheomalacia skos:exactMatch DOID:0060313 tracheomalacia semapv:UnspecifiedMatching MONDO:0019804 congenital tracheomalacia skos:exactMatch MEDGEN:140261 semapv:UnspecifiedMatching MONDO:0019804 congenital tracheomalacia skos:exactMatch NCIT:C98634 Tracheomalacia semapv:UnspecifiedMatching MONDO:0019804 congenital tracheomalacia skos:exactMatch Orphanet:95430 Congenital tracheomalacia semapv:UnspecifiedMatching MONDO:0019804 congenital tracheomalacia skos:exactMatch SCTID:95467005 semapv:UnspecifiedMatching MONDO:0019804 congenital tracheomalacia skos:exactMatch UMLS:C0392109 semapv:UnspecifiedMatching MONDO:0019804 congenital tracheomalacia skos:exactMatch icd11.foundation:1616705280 Congenital tracheomalacia semapv:UnspecifiedMatching MONDO:0019804 congenital tracheomalacia skos:exactMatch icd11.foundation:303133490 Tracheomalacia semapv:UnspecifiedMatching MONDO:0019804 congenital tracheomalacia skos:exactMatch mesh:D055090 semapv:UnspecifiedMatching MONDO:0019805 twin to twin transfusion syndrome skos:exactMatch DOID:13576 twin-to-twin transfusion syndrome semapv:UnspecifiedMatching MONDO:0019805 twin to twin transfusion syndrome skos:exactMatch EFO:1001221 semapv:UnspecifiedMatching MONDO:0019805 twin to twin transfusion syndrome skos:exactMatch MEDGEN:777055 semapv:UnspecifiedMatching MONDO:0019805 twin to twin transfusion syndrome skos:exactMatch NCIT:C113824 Twin-Twin Transfusion Syndrome semapv:UnspecifiedMatching MONDO:0019805 twin to twin transfusion syndrome skos:exactMatch Orphanet:95431 Twin to twin transfusion syndrome semapv:UnspecifiedMatching MONDO:0019805 twin to twin transfusion syndrome skos:exactMatch SCTID:13404009 semapv:UnspecifiedMatching MONDO:0019805 twin to twin transfusion syndrome skos:exactMatch UMLS:C2909036 semapv:UnspecifiedMatching MONDO:0019805 twin to twin transfusion syndrome skos:exactMatch icd11.foundation:850604370 Twin to twin transfusion syndrome semapv:UnspecifiedMatching MONDO:0019805 twin to twin transfusion syndrome skos:exactMatch mesh:D005330 semapv:UnspecifiedMatching MONDO:0019806 primary progressive aphasia skos:exactMatch DOID:0081388 primary progressive aphasia semapv:UnspecifiedMatching MONDO:0019806 primary progressive aphasia skos:exactMatch EFO:0009053 semapv:UnspecifiedMatching MONDO:0019806 primary progressive aphasia skos:exactMatch MEDGEN:79466 semapv:UnspecifiedMatching MONDO:0019806 primary progressive aphasia skos:exactMatch NCIT:C85024 Primary Progressive Aphasia semapv:UnspecifiedMatching MONDO:0019806 primary progressive aphasia skos:exactMatch Orphanet:95432 Primary progressive aphasia semapv:UnspecifiedMatching MONDO:0019806 primary progressive aphasia skos:exactMatch UMLS:C0282513 semapv:UnspecifiedMatching MONDO:0019806 primary progressive aphasia skos:exactMatch mesh:D018888 semapv:UnspecifiedMatching MONDO:0019807 mesocardia skos:exactMatch MEDGEN:488817 semapv:UnspecifiedMatching MONDO:0019807 mesocardia skos:exactMatch Orphanet:95443 Mesocardia semapv:UnspecifiedMatching MONDO:0019807 mesocardia skos:exactMatch SCTID:16567006 semapv:UnspecifiedMatching MONDO:0019807 mesocardia skos:exactMatch UMLS:C0265865 semapv:UnspecifiedMatching MONDO:0019807 mesocardia skos:exactMatch icd11.foundation:1251061251 Mesocardia semapv:UnspecifiedMatching MONDO:0019808 aortic valve atresia skos:exactMatch MEDGEN:451016 semapv:UnspecifiedMatching MONDO:0019808 aortic valve atresia skos:exactMatch NCIT:C98818 Aortic Valve Atresia semapv:UnspecifiedMatching MONDO:0019808 aortic valve atresia skos:exactMatch Orphanet:95448 Congenital aortic valve atresia semapv:UnspecifiedMatching MONDO:0019808 aortic valve atresia skos:exactMatch SCTID:51442005 semapv:UnspecifiedMatching MONDO:0019808 aortic valve atresia skos:exactMatch UMLS:C0265843 semapv:UnspecifiedMatching MONDO:0019808 aortic valve atresia skos:exactMatch icd11.foundation:1700740306 Aortic valvar atresia semapv:UnspecifiedMatching MONDO:0019809 congenital aortic valve insufficiency skos:exactMatch ICD10CM:Q23.1 Congenital insufficiency of aortic valve semapv:UnspecifiedMatching MONDO:0019809 congenital aortic valve insufficiency skos:exactMatch MEDGEN:510599 semapv:UnspecifiedMatching MONDO:0019809 congenital aortic valve insufficiency skos:exactMatch NCIT:C103936 Congenital Aortic Valve Insufficiency semapv:UnspecifiedMatching MONDO:0019809 congenital aortic valve insufficiency skos:exactMatch SCTID:28656008 semapv:UnspecifiedMatching MONDO:0019809 congenital aortic valve insufficiency skos:exactMatch UMLS:C0158617 semapv:UnspecifiedMatching MONDO:0019809 congenital aortic valve insufficiency skos:exactMatch icd11.foundation:167104804 Congenital aortic regurgitation semapv:UnspecifiedMatching MONDO:0019810 toxic epidermal necrolysis skos:exactMatch EFO:0004775 semapv:UnspecifiedMatching MONDO:0019810 toxic epidermal necrolysis skos:exactMatch MEDGEN:4501 semapv:UnspecifiedMatching MONDO:0019810 toxic epidermal necrolysis skos:exactMatch NCIT:C79777 Toxic Epidermal Necrolysis semapv:UnspecifiedMatching MONDO:0019810 toxic epidermal necrolysis skos:exactMatch Orphanet:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum semapv:UnspecifiedMatching MONDO:0019810 toxic epidermal necrolysis skos:exactMatch SCTID:23067006 semapv:UnspecifiedMatching MONDO:0019810 toxic epidermal necrolysis skos:exactMatch UMLS:C0014518 semapv:UnspecifiedMatching MONDO:0019810 toxic epidermal necrolysis skos:exactMatch icd11.foundation:1575072695 Toxic epidermal necrolysis semapv:UnspecifiedMatching MONDO:0019810 toxic epidermal necrolysis skos:exactMatch icd11.foundation:195467267 Stevens-Johnson syndrome or toxic epidermal necrolysis semapv:UnspecifiedMatching MONDO:0019811 tricuspid valve agenesis skos:exactMatch MEDGEN:672653 semapv:UnspecifiedMatching MONDO:0019811 tricuspid valve agenesis skos:exactMatch Orphanet:95457 Tricuspid valve agenesis semapv:UnspecifiedMatching MONDO:0019811 tricuspid valve agenesis skos:exactMatch UMLS:C0685715 semapv:UnspecifiedMatching MONDO:0019813 congenital tricuspid stenosis skos:exactMatch ICD10CM:Q22.4 Congenital tricuspid stenosis semapv:UnspecifiedMatching MONDO:0019813 congenital tricuspid stenosis skos:exactMatch MEDGEN:539527 semapv:UnspecifiedMatching MONDO:0019813 congenital tricuspid stenosis skos:exactMatch Orphanet:95459 Congenital tricuspid stenosis semapv:UnspecifiedMatching MONDO:0019813 congenital tricuspid stenosis skos:exactMatch SCTID:36233006 semapv:UnspecifiedMatching MONDO:0019813 congenital tricuspid stenosis skos:exactMatch UMLS:C0265836 semapv:UnspecifiedMatching MONDO:0019813 congenital tricuspid stenosis skos:exactMatch icd11.foundation:1996822362 Congenital tricuspid valvar stenosis semapv:UnspecifiedMatching MONDO:0019814 straddling or overriding tricuspid valve skos:exactMatch MEDGEN:1818564 semapv:UnspecifiedMatching MONDO:0019814 straddling or overriding tricuspid valve skos:exactMatch Orphanet:95461 Straddling or overriding tricuspid valve semapv:UnspecifiedMatching MONDO:0019814 straddling or overriding tricuspid valve skos:exactMatch UMLS:C5761644 semapv:UnspecifiedMatching MONDO:0019815 accessory tricuspid valve tissue skos:exactMatch MEDGEN:1798036 semapv:UnspecifiedMatching MONDO:0019815 accessory tricuspid valve tissue skos:exactMatch Orphanet:95462 Accessory tricuspid valve tissue semapv:UnspecifiedMatching MONDO:0019815 accessory tricuspid valve tissue skos:exactMatch UMLS:C5566613 semapv:UnspecifiedMatching MONDO:0019816 obsolete anomaly of the tricuspid subvalvular apparatus skos:exactMatch Orphanet:95463 Anomaly of the tricuspid subvalvular apparatus semapv:UnspecifiedMatching MONDO:0019817 congenital mitral valve insufficiency and/or stenosis skos:exactMatch ICD10CM:Q23 Congenital malformations of aortic and mitral valves semapv:UnspecifiedMatching MONDO:0019817 congenital mitral valve insufficiency and/or stenosis skos:exactMatch MEDGEN:1842574 semapv:UnspecifiedMatching MONDO:0019817 congenital mitral valve insufficiency and/or stenosis skos:exactMatch Orphanet:95464 Congenital mitral valve insufficiency and/or stenosis semapv:UnspecifiedMatching MONDO:0019817 congenital mitral valve insufficiency and/or stenosis skos:exactMatch UMLS:C5681577 semapv:UnspecifiedMatching MONDO:0019818 cleft mitral valve skos:exactMatch MEDGEN:473080 semapv:UnspecifiedMatching MONDO:0019818 cleft mitral valve skos:exactMatch Orphanet:95465 Cleft mitral valve semapv:UnspecifiedMatching MONDO:0019818 cleft mitral valve skos:exactMatch UMLS:C0344772 semapv:UnspecifiedMatching MONDO:0019819 double-orifice mitral valve skos:exactMatch MEDGEN:488869 semapv:UnspecifiedMatching MONDO:0019819 double-orifice mitral valve skos:exactMatch Orphanet:95474 Double-orifice mitral valve semapv:UnspecifiedMatching MONDO:0019819 double-orifice mitral valve skos:exactMatch SCTID:253402005 semapv:UnspecifiedMatching MONDO:0019819 double-orifice mitral valve skos:exactMatch UMLS:C0344770 semapv:UnspecifiedMatching MONDO:0019820 univentricular cardiopathy skos:exactMatch MEDGEN:1843389 semapv:UnspecifiedMatching MONDO:0019820 univentricular cardiopathy skos:exactMatch Orphanet:95483 Univentricular cardiopathy semapv:UnspecifiedMatching MONDO:0019820 univentricular cardiopathy skos:exactMatch UMLS:C5681576 semapv:UnspecifiedMatching MONDO:0019822 obsolete arterial duct anomaly skos:exactMatch Orphanet:95485 Arterial duct anomaly semapv:UnspecifiedMatching MONDO:0019823 premature closure of the arterial duct skos:exactMatch MEDGEN:759377 semapv:UnspecifiedMatching MONDO:0019823 premature closure of the arterial duct skos:exactMatch Orphanet:95486 Premature closure of the arterial duct semapv:UnspecifiedMatching MONDO:0019823 premature closure of the arterial duct skos:exactMatch UMLS:C3532264 semapv:UnspecifiedMatching MONDO:0019824 non-acquired pituitary hormone deficiency skos:exactMatch MEDGEN:1842784 semapv:UnspecifiedMatching MONDO:0019824 non-acquired pituitary hormone deficiency skos:exactMatch Orphanet:95488 Non-acquired pituitary hormone deficiency semapv:UnspecifiedMatching MONDO:0019824 non-acquired pituitary hormone deficiency skos:exactMatch UMLS:C5681572 semapv:UnspecifiedMatching MONDO:0019825 congenital coronary artery aneurysm skos:exactMatch MEDGEN:573848 semapv:UnspecifiedMatching MONDO:0019825 congenital coronary artery aneurysm skos:exactMatch Orphanet:95491 Congenital coronary artery aneurysm semapv:UnspecifiedMatching MONDO:0019825 congenital coronary artery aneurysm skos:exactMatch SCTID:204378009 semapv:UnspecifiedMatching MONDO:0019825 congenital coronary artery aneurysm skos:exactMatch UMLS:C0340627 semapv:UnspecifiedMatching MONDO:0019825 congenital coronary artery aneurysm skos:exactMatch icd11.foundation:1376805686 Congenital coronary arterial aneurysm semapv:UnspecifiedMatching MONDO:0019826 obsolete abnormal origin or aberrant course of coronary artery skos:exactMatch Orphanet:95493 OBSOLETE: Abnormal origin or aberrant course of coronary artery semapv:UnspecifiedMatching MONDO:0019827 obsolete disease associated with non-acquired combined pituitary hormone deficiency skos:exactMatch Orphanet:95495 Disease associated with non-acquired combined pituitary hormone deficiency semapv:UnspecifiedMatching MONDO:0019828 pituitary stalk interruption syndrome skos:exactMatch MEDGEN:883774 semapv:UnspecifiedMatching MONDO:0019828 pituitary stalk interruption syndrome skos:exactMatch NCIT:C121150 Pituitary Stalk Interruption Syndrome semapv:UnspecifiedMatching MONDO:0019828 pituitary stalk interruption syndrome skos:exactMatch Orphanet:95496 Pituitary stalk interruption syndrome semapv:UnspecifiedMatching MONDO:0019828 pituitary stalk interruption syndrome skos:exactMatch SCTID:715727009 semapv:UnspecifiedMatching MONDO:0019828 pituitary stalk interruption syndrome skos:exactMatch UMLS:C4053775 semapv:UnspecifiedMatching MONDO:0019828 pituitary stalk interruption syndrome skos:exactMatch icd11.foundation:1474283222 Pituitary stalk interruption syndrome semapv:UnspecifiedMatching MONDO:0019829 congenital anomaly of superior vena cava skos:exactMatch MEDGEN:539589 semapv:UnspecifiedMatching MONDO:0019829 congenital anomaly of superior vena cava skos:exactMatch Orphanet:95498 Congenital anomaly of superior vena cava semapv:UnspecifiedMatching MONDO:0019829 congenital anomaly of superior vena cava skos:exactMatch SCTID:70195006 semapv:UnspecifiedMatching MONDO:0019829 congenital anomaly of superior vena cava skos:exactMatch UMLS:C0265928 semapv:UnspecifiedMatching MONDO:0019829 congenital anomaly of superior vena cava skos:exactMatch icd11.foundation:1459500132 Congenital anomaly of superior caval vein semapv:UnspecifiedMatching MONDO:0019830 congenital anomaly of the inferior vena cava skos:exactMatch MEDGEN:539592 semapv:UnspecifiedMatching MONDO:0019830 congenital anomaly of the inferior vena cava skos:exactMatch Orphanet:95499 Congenital anomaly of the inferior vena cava semapv:UnspecifiedMatching MONDO:0019830 congenital anomaly of the inferior vena cava skos:exactMatch SCTID:81577001 semapv:UnspecifiedMatching MONDO:0019830 congenital anomaly of the inferior vena cava skos:exactMatch UMLS:C0265932 semapv:UnspecifiedMatching MONDO:0019830 congenital anomaly of the inferior vena cava skos:exactMatch icd11.foundation:1266881625 Congenital anomaly of inferior caval vein semapv:UnspecifiedMatching MONDO:0019831 obsolete congenital anomaly of the coronary sinus skos:exactMatch Orphanet:95500 Congenital anomaly of the coronary sinus semapv:UnspecifiedMatching MONDO:0019832 acquired pituitary hormone deficiency skos:exactMatch MEDGEN:1843262 semapv:UnspecifiedMatching MONDO:0019832 acquired pituitary hormone deficiency skos:exactMatch Orphanet:95502 Acquired pituitary hormone deficiency semapv:UnspecifiedMatching MONDO:0019832 acquired pituitary hormone deficiency skos:exactMatch UMLS:C5681569 semapv:UnspecifiedMatching MONDO:0019833 obsolete pituitary hormone deficiency from tumoral origin skos:exactMatch Orphanet:95503 Pituitary hormone deficiency of tumoral origin semapv:UnspecifiedMatching MONDO:0019834 obsolete pituitary hormone deficiency from meningeal origin skos:exactMatch Orphanet:95505 Pituitary hormone deficiency of meningeal origin semapv:UnspecifiedMatching MONDO:0019835 primary hypophysitis skos:exactMatch MEDGEN:575013 semapv:UnspecifiedMatching MONDO:0019835 primary hypophysitis skos:exactMatch NCIT:C132055 Autoimmune Hypophysitis semapv:UnspecifiedMatching MONDO:0019835 primary hypophysitis skos:exactMatch Orphanet:95506 Primary hypophysitis semapv:UnspecifiedMatching MONDO:0019835 primary hypophysitis skos:exactMatch SCTID:237706000 semapv:UnspecifiedMatching MONDO:0019835 primary hypophysitis skos:exactMatch UMLS:C0342410 semapv:UnspecifiedMatching MONDO:0019835 primary hypophysitis skos:exactMatch mesh:D000069281 semapv:UnspecifiedMatching MONDO:0019836 congenital anomaly of hepatic vein skos:exactMatch MEDGEN:756237 semapv:UnspecifiedMatching MONDO:0019836 congenital anomaly of hepatic vein skos:exactMatch Orphanet:95507 Congenital anomaly of hepatic vein semapv:UnspecifiedMatching MONDO:0019836 congenital anomaly of hepatic vein skos:exactMatch UMLS:C3163825 semapv:UnspecifiedMatching MONDO:0019837 obsolete atrial appendage anomaly skos:exactMatch Orphanet:95510 Atrial appendage anomaly semapv:UnspecifiedMatching MONDO:0019838 adenohypophysitis skos:exactMatch MEDGEN:1677203 semapv:UnspecifiedMatching MONDO:0019838 adenohypophysitis skos:exactMatch Orphanet:95512 Adenohypophysitis semapv:UnspecifiedMatching MONDO:0019838 adenohypophysitis skos:exactMatch UMLS:C5190880 semapv:UnspecifiedMatching MONDO:0019839 panhypophysitis skos:exactMatch MEDGEN:1674527 semapv:UnspecifiedMatching MONDO:0019839 panhypophysitis skos:exactMatch Orphanet:95513 Panhypophysitis semapv:UnspecifiedMatching MONDO:0019839 panhypophysitis skos:exactMatch UMLS:C5190786 semapv:UnspecifiedMatching MONDO:0019840 acropectororenal dysplasia skos:exactMatch SCTID:720413004 semapv:UnspecifiedMatching MONDO:0019841 obsolete pituitary hormone defiency from vascular origin skos:exactMatch Orphanet:95611 Pituitary hormone deficiency of vascular origin semapv:UnspecifiedMatching MONDO:0019843 obsolete pituitary hormone deficiency secondary to a granulomatous disease skos:exactMatch Orphanet:95617 Pituitary hormone deficiency secondary to a granulomatous disease semapv:UnspecifiedMatching MONDO:0019844 obsolete pituitary hormone deficiency secondary to storage disease skos:exactMatch Orphanet:95618 Pituitary hormone deficiency secondary to storage disease semapv:UnspecifiedMatching MONDO:0019845 iatrogenic or traumatic pituitary deficiency skos:exactMatch MEDGEN:575005 semapv:UnspecifiedMatching MONDO:0019845 iatrogenic or traumatic pituitary deficiency skos:exactMatch Orphanet:95619 Post-traumatic pituitary deficiency semapv:UnspecifiedMatching MONDO:0019845 iatrogenic or traumatic pituitary deficiency skos:exactMatch UMLS:C0342400 semapv:UnspecifiedMatching MONDO:0019846 acquired central diabetes insipidus skos:exactMatch MEDGEN:1843437 semapv:UnspecifiedMatching MONDO:0019846 acquired central diabetes insipidus skos:exactMatch Orphanet:95626 Acquired arginine vasopressin deficiency semapv:UnspecifiedMatching MONDO:0019846 acquired central diabetes insipidus skos:exactMatch UMLS:C5680256 semapv:UnspecifiedMatching MONDO:0019846 acquired central diabetes insipidus skos:exactMatch icd11.foundation:1677009817 Acquired central diabetes insipidus semapv:UnspecifiedMatching MONDO:0019847 obsolete congenital adrenal hypoplasia of maternal cause skos:exactMatch Orphanet:95701 OBSOLETE: Congenital adrenal hypoplasia of maternal cause semapv:UnspecifiedMatching MONDO:0019848 posterior hypospadias skos:exactMatch MEDGEN:1684864 semapv:UnspecifiedMatching MONDO:0019848 posterior hypospadias skos:exactMatch Orphanet:95706 Non-syndromic posterior hypospadias semapv:UnspecifiedMatching MONDO:0019848 posterior hypospadias skos:exactMatch UMLS:C5231010 semapv:UnspecifiedMatching MONDO:0019849 isolated micropenis skos:exactMatch MEDGEN:1843275 semapv:UnspecifiedMatching MONDO:0019849 isolated micropenis skos:exactMatch Orphanet:95707 Idiopathic isolated micropenis semapv:UnspecifiedMatching MONDO:0019849 isolated micropenis skos:exactMatch UMLS:C5681560 semapv:UnspecifiedMatching MONDO:0019851 acquired primary ovarian failure skos:exactMatch MEDGEN:1863413 semapv:UnspecifiedMatching MONDO:0019851 acquired primary ovarian failure skos:exactMatch Orphanet:95709 Rare acquired premature ovarian failure semapv:UnspecifiedMatching MONDO:0019851 acquired primary ovarian failure skos:exactMatch SCTID:717954003 semapv:UnspecifiedMatching MONDO:0019851 acquired primary ovarian failure skos:exactMatch UMLS:C5925051 semapv:UnspecifiedMatching MONDO:0019852 inherited primary ovarian failure skos:exactMatch MEDGEN:443920 semapv:UnspecifiedMatching MONDO:0019852 inherited primary ovarian failure skos:exactMatch OMIMPS:311360 Premature ovarian failure semapv:UnspecifiedMatching MONDO:0019852 inherited primary ovarian failure skos:exactMatch Orphanet:95710 Rare non-acquired premature ovarian failure semapv:UnspecifiedMatching MONDO:0019852 inherited primary ovarian failure skos:exactMatch UMLS:C2930861 semapv:UnspecifiedMatching MONDO:0019853 obsolete congenital hypothyroidism due to developmental anomaly skos:exactMatch Orphanet:95711 Congenital hypothyroidism due to developmental anomaly semapv:UnspecifiedMatching MONDO:0019854 thyroid ectopia skos:exactMatch MEDGEN:78591 semapv:UnspecifiedMatching MONDO:0019854 thyroid ectopia skos:exactMatch Orphanet:95712 Thyroid ectopia semapv:UnspecifiedMatching MONDO:0019854 thyroid ectopia skos:exactMatch UMLS:C0266283 semapv:UnspecifiedMatching MONDO:0019854 thyroid ectopia skos:exactMatch icd11.foundation:458251984 Thyroid ectopia semapv:UnspecifiedMatching MONDO:0019855 athyreosis skos:exactMatch MEDGEN:155447 semapv:UnspecifiedMatching MONDO:0019855 athyreosis skos:exactMatch Orphanet:95713 Athyreosis semapv:UnspecifiedMatching MONDO:0019855 athyreosis skos:exactMatch UMLS:C0749420 semapv:UnspecifiedMatching MONDO:0019856 obsolete primary congenital hypothyroidism without thyroid developmental anomaly skos:exactMatch Orphanet:95714 Primary congenital hypothyroidism without thyroid developmental anomaly semapv:UnspecifiedMatching MONDO:0019857 congenital hypothyroidism due to transplacental passage of maternal TSH-binding inhibitory antibodies skos:exactMatch MEDGEN:903571 semapv:UnspecifiedMatching MONDO:0019857 congenital hypothyroidism due to transplacental passage of maternal TSH-binding inhibitory antibodies skos:exactMatch Orphanet:95715 Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies semapv:UnspecifiedMatching MONDO:0019857 congenital hypothyroidism due to transplacental passage of maternal TSH-binding inhibitory antibodies skos:exactMatch SCTID:717333002 semapv:UnspecifiedMatching MONDO:0019857 congenital hypothyroidism due to transplacental passage of maternal TSH-binding inhibitory antibodies skos:exactMatch UMLS:C4273914 semapv:UnspecifiedMatching MONDO:0019858 idiopathic congenital hypothyroidism skos:exactMatch MEDGEN:901252 semapv:UnspecifiedMatching MONDO:0019858 idiopathic congenital hypothyroidism skos:exactMatch Orphanet:95717 Idiopathic congenital hypothyroidism semapv:UnspecifiedMatching MONDO:0019858 idiopathic congenital hypothyroidism skos:exactMatch SCTID:717334008 semapv:UnspecifiedMatching MONDO:0019858 idiopathic congenital hypothyroidism skos:exactMatch UMLS:C4273913 semapv:UnspecifiedMatching MONDO:0019859 obsolete congenital thyroid malformation without hypothyroidism skos:exactMatch Orphanet:95718 Congenital thyroid malformation without hypothyroidism semapv:UnspecifiedMatching MONDO:0019860 thyroid hemiagenesis skos:exactMatch MEDGEN:868785 semapv:UnspecifiedMatching MONDO:0019860 thyroid hemiagenesis skos:exactMatch Orphanet:95719 Thyroid hemiagenesis semapv:UnspecifiedMatching MONDO:0019860 thyroid hemiagenesis skos:exactMatch SCTID:715734006 semapv:UnspecifiedMatching MONDO:0019860 thyroid hemiagenesis skos:exactMatch UMLS:C4023190 semapv:UnspecifiedMatching MONDO:0019860 thyroid hemiagenesis skos:exactMatch icd11.foundation:872920513 Thyroid hemiagenesis semapv:UnspecifiedMatching MONDO:0019861 thyroid hypoplasia skos:exactMatch MEDGEN:57720 semapv:UnspecifiedMatching MONDO:0019861 thyroid hypoplasia skos:exactMatch Orphanet:95720 Thyroid hypoplasia semapv:UnspecifiedMatching MONDO:0019861 thyroid hypoplasia skos:exactMatch UMLS:C0151516 semapv:UnspecifiedMatching MONDO:0019861 thyroid hypoplasia skos:exactMatch icd11.foundation:936952450 Thyroid hypoplasia semapv:UnspecifiedMatching MONDO:0019862 levocardia skos:exactMatch ICD10CM:Q24.1 Levocardia semapv:UnspecifiedMatching MONDO:0019862 levocardia skos:exactMatch MEDGEN:7331 semapv:UnspecifiedMatching MONDO:0019862 levocardia skos:exactMatch NCIT:C111647 Levocardia semapv:UnspecifiedMatching MONDO:0019862 levocardia skos:exactMatch Orphanet:95854 Levocardia semapv:UnspecifiedMatching MONDO:0019862 levocardia skos:exactMatch SCTID:205769006 semapv:UnspecifiedMatching MONDO:0019862 levocardia skos:exactMatch UMLS:C0023569 semapv:UnspecifiedMatching MONDO:0019862 levocardia skos:exactMatch icd11.foundation:848076902 Laevocardia semapv:UnspecifiedMatching MONDO:0019862 levocardia skos:exactMatch mesh:D007979 semapv:UnspecifiedMatching MONDO:0019864 tetrasomy 21 skos:exactMatch MEDGEN:1640242 semapv:UnspecifiedMatching MONDO:0019864 tetrasomy 21 skos:exactMatch Orphanet:96055 Tetrasomy 21 syndrome semapv:UnspecifiedMatching MONDO:0019864 tetrasomy 21 skos:exactMatch SCTID:764690001 semapv:UnspecifiedMatching MONDO:0019864 tetrasomy 21 skos:exactMatch UMLS:C4707057 semapv:UnspecifiedMatching MONDO:0019864 tetrasomy 21 skos:exactMatch icd11.foundation:1246904243 Tetrasomy 21 semapv:UnspecifiedMatching MONDO:0019865 mosaic trisomy 4 skos:exactMatch MEDGEN:1637768 semapv:UnspecifiedMatching MONDO:0019865 mosaic trisomy 4 skos:exactMatch Orphanet:96059 Mosaic trisomy 4 syndrome semapv:UnspecifiedMatching MONDO:0019865 mosaic trisomy 4 skos:exactMatch SCTID:764628000 semapv:UnspecifiedMatching MONDO:0019865 mosaic trisomy 4 skos:exactMatch UMLS:C4272018 semapv:UnspecifiedMatching MONDO:0019866 mosaic trisomy 5 skos:exactMatch MEDGEN:419849 semapv:UnspecifiedMatching MONDO:0019866 mosaic trisomy 5 skos:exactMatch Orphanet:96060 Mosaic trisomy 5 syndrome semapv:UnspecifiedMatching MONDO:0019866 mosaic trisomy 5 skos:exactMatch SCTID:764629008 semapv:UnspecifiedMatching MONDO:0019866 mosaic trisomy 5 skos:exactMatch UMLS:C2931603 semapv:UnspecifiedMatching MONDO:0019866 mosaic trisomy 5 skos:exactMatch mesh:C537762 semapv:UnspecifiedMatching MONDO:0019867 mosaic trisomy 8 skos:exactMatch MEDGEN:797340 semapv:UnspecifiedMatching MONDO:0019867 mosaic trisomy 8 skos:exactMatch Orphanet:96061 Mosaic trisomy 8 syndrome semapv:UnspecifiedMatching MONDO:0019867 mosaic trisomy 8 skos:exactMatch SCTID:717335009 semapv:UnspecifiedMatching MONDO:0019867 mosaic trisomy 8 skos:exactMatch UMLS:C1096527 semapv:UnspecifiedMatching MONDO:0019867 mosaic trisomy 8 skos:exactMatch mesh:C537940 semapv:UnspecifiedMatching MONDO:0019868 mosaic trisomy 10 skos:exactMatch MEDGEN:419163 semapv:UnspecifiedMatching MONDO:0019868 mosaic trisomy 10 skos:exactMatch Orphanet:96063 Mosaic trisomy 10 syndrome semapv:UnspecifiedMatching MONDO:0019868 mosaic trisomy 10 skos:exactMatch SCTID:764461004 semapv:UnspecifiedMatching MONDO:0019868 mosaic trisomy 10 skos:exactMatch UMLS:C2931794 semapv:UnspecifiedMatching MONDO:0019868 mosaic trisomy 10 skos:exactMatch mesh:C538292 semapv:UnspecifiedMatching MONDO:0019869 mosaic trisomy 22 skos:exactMatch MEDGEN:419045 semapv:UnspecifiedMatching MONDO:0019869 mosaic trisomy 22 skos:exactMatch Orphanet:96068 Mosaic trisomy 22 syndrome semapv:UnspecifiedMatching MONDO:0019869 mosaic trisomy 22 skos:exactMatch SCTID:764625002 semapv:UnspecifiedMatching MONDO:0019869 mosaic trisomy 22 skos:exactMatch UMLS:C2931326 semapv:UnspecifiedMatching MONDO:0019869 mosaic trisomy 22 skos:exactMatch mesh:C536796 semapv:UnspecifiedMatching MONDO:0019870 distal trisomy 1p36 skos:exactMatch MEDGEN:1646544 semapv:UnspecifiedMatching MONDO:0019870 distal trisomy 1p36 skos:exactMatch Orphanet:96069 Distal duplication 1p36 syndrome semapv:UnspecifiedMatching MONDO:0019870 distal trisomy 1p36 skos:exactMatch SCTID:766053003 semapv:UnspecifiedMatching MONDO:0019870 distal trisomy 1p36 skos:exactMatch UMLS:C4707665 semapv:UnspecifiedMatching MONDO:0019871 distal trisomy 2p skos:exactMatch MEDGEN:1646233 semapv:UnspecifiedMatching MONDO:0019871 distal trisomy 2p skos:exactMatch Orphanet:96070 Distal duplication 2p syndrome semapv:UnspecifiedMatching MONDO:0019871 distal trisomy 2p skos:exactMatch SCTID:764518004 semapv:UnspecifiedMatching MONDO:0019871 distal trisomy 2p skos:exactMatch UMLS:C4706937 semapv:UnspecifiedMatching MONDO:0019872 distal trisomy 3p skos:exactMatch MEDGEN:1637379 semapv:UnspecifiedMatching MONDO:0019872 distal trisomy 3p skos:exactMatch Orphanet:96071 Distal duplication 3p syndrome semapv:UnspecifiedMatching MONDO:0019872 distal trisomy 3p skos:exactMatch SCTID:764519007 semapv:UnspecifiedMatching MONDO:0019872 distal trisomy 3p skos:exactMatch UMLS:C4706938 semapv:UnspecifiedMatching MONDO:0019873 4p16.3 microduplication syndrome skos:exactMatch MEDGEN:1387521 semapv:UnspecifiedMatching MONDO:0019873 4p16.3 microduplication syndrome skos:exactMatch Orphanet:96072 4p16.3 microduplication syndrome semapv:UnspecifiedMatching MONDO:0019873 4p16.3 microduplication syndrome skos:exactMatch SCTID:726706008 semapv:UnspecifiedMatching MONDO:0019873 4p16.3 microduplication syndrome skos:exactMatch UMLS:C4512053 semapv:UnspecifiedMatching MONDO:0019874 distal trisomy 7p skos:exactMatch MEDGEN:1641655 semapv:UnspecifiedMatching MONDO:0019874 distal trisomy 7p skos:exactMatch Orphanet:96074 Distal duplication 7p syndrome semapv:UnspecifiedMatching MONDO:0019874 distal trisomy 7p skos:exactMatch SCTID:763276000 semapv:UnspecifiedMatching MONDO:0019874 distal trisomy 7p skos:exactMatch UMLS:C4706364 semapv:UnspecifiedMatching MONDO:0019875 Beckwith-Wiedemann syndrome due to 11p15 microduplication skos:exactMatch MEDGEN:1826126 semapv:UnspecifiedMatching MONDO:0019875 Beckwith-Wiedemann syndrome due to 11p15 microduplication skos:exactMatch Orphanet:96076 Beckwith-Wiedemann syndrome due to 11p15 microduplication semapv:UnspecifiedMatching MONDO:0019875 Beckwith-Wiedemann syndrome due to 11p15 microduplication skos:exactMatch UMLS:C5681581 semapv:UnspecifiedMatching MONDO:0019876 8p inverted duplication/deletion syndrome skos:exactMatch MEDGEN:906101 semapv:UnspecifiedMatching MONDO:0019876 8p inverted duplication/deletion syndrome skos:exactMatch Orphanet:96092 8p inverted duplication/deletion syndrome semapv:UnspecifiedMatching MONDO:0019876 8p inverted duplication/deletion syndrome skos:exactMatch SCTID:718188007 semapv:UnspecifiedMatching MONDO:0019876 8p inverted duplication/deletion syndrome skos:exactMatch UMLS:C4273676 semapv:UnspecifiedMatching MONDO:0019877 distal trisomy 2q skos:exactMatch MEDGEN:1634043 semapv:UnspecifiedMatching MONDO:0019877 distal trisomy 2q skos:exactMatch Orphanet:96094 Distal duplication 2q syndrome semapv:UnspecifiedMatching MONDO:0019877 distal trisomy 2q skos:exactMatch SCTID:763272003 semapv:UnspecifiedMatching MONDO:0019877 distal trisomy 2q skos:exactMatch UMLS:C4706361 semapv:UnspecifiedMatching MONDO:0019878 3q26 microduplication syndrome skos:exactMatch MEDGEN:1670584 semapv:UnspecifiedMatching MONDO:0019878 3q26 microduplication syndrome skos:exactMatch Orphanet:96095 3q26 microduplication syndrome semapv:UnspecifiedMatching MONDO:0019878 3q26 microduplication syndrome skos:exactMatch UMLS:C4755319 semapv:UnspecifiedMatching MONDO:0019879 distal trisomy 4q skos:exactMatch MEDGEN:1633392 semapv:UnspecifiedMatching MONDO:0019879 distal trisomy 4q skos:exactMatch Orphanet:96096 Distal duplication 4q syndrome semapv:UnspecifiedMatching MONDO:0019879 distal trisomy 4q skos:exactMatch SCTID:763273008 semapv:UnspecifiedMatching MONDO:0019879 distal trisomy 4q skos:exactMatch UMLS:C4706362 semapv:UnspecifiedMatching MONDO:0019880 distal trisomy 5q skos:exactMatch MEDGEN:1646186 semapv:UnspecifiedMatching MONDO:0019880 distal trisomy 5q skos:exactMatch Orphanet:96097 Distal duplication 5q syndrome semapv:UnspecifiedMatching MONDO:0019880 distal trisomy 5q skos:exactMatch SCTID:763274002 semapv:UnspecifiedMatching MONDO:0019880 distal trisomy 5q skos:exactMatch UMLS:C4706363 semapv:UnspecifiedMatching MONDO:0019881 distal trisomy 6q skos:exactMatch MEDGEN:162773 semapv:UnspecifiedMatching MONDO:0019881 distal trisomy 6q skos:exactMatch Orphanet:96098 Distal duplication 6q syndrome semapv:UnspecifiedMatching MONDO:0019881 distal trisomy 6q skos:exactMatch SCTID:763275001 semapv:UnspecifiedMatching MONDO:0019881 distal trisomy 6q skos:exactMatch UMLS:C0795817 semapv:UnspecifiedMatching MONDO:0019881 distal trisomy 6q skos:exactMatch mesh:C537810 semapv:UnspecifiedMatching MONDO:0019882 distal trisomy 8q skos:exactMatch MEDGEN:1637956 semapv:UnspecifiedMatching MONDO:0019882 distal trisomy 8q skos:exactMatch Orphanet:96100 Distal duplication 8q syndrome semapv:UnspecifiedMatching MONDO:0019882 distal trisomy 8q skos:exactMatch SCTID:763277009 semapv:UnspecifiedMatching MONDO:0019882 distal trisomy 8q skos:exactMatch UMLS:C4706365 semapv:UnspecifiedMatching MONDO:0019883 distal trisomy 9q skos:exactMatch MEDGEN:1645202 semapv:UnspecifiedMatching MONDO:0019883 distal trisomy 9q skos:exactMatch Orphanet:96101 Distal duplication 9q syndrome semapv:UnspecifiedMatching MONDO:0019883 distal trisomy 9q skos:exactMatch SCTID:764520001 semapv:UnspecifiedMatching MONDO:0019883 distal trisomy 9q skos:exactMatch UMLS:C4706939 semapv:UnspecifiedMatching MONDO:0019884 distal trisomy 10q skos:exactMatch MEDGEN:419480 semapv:UnspecifiedMatching MONDO:0019884 distal trisomy 10q skos:exactMatch Orphanet:96102 Distal duplication 10q syndrome semapv:UnspecifiedMatching MONDO:0019884 distal trisomy 10q skos:exactMatch SCTID:718689000 semapv:UnspecifiedMatching MONDO:0019884 distal trisomy 10q skos:exactMatch UMLS:C2931728 semapv:UnspecifiedMatching MONDO:0019884 distal trisomy 10q skos:exactMatch mesh:C538087 semapv:UnspecifiedMatching MONDO:0019885 distal trisomy 11q skos:exactMatch MEDGEN:419166 semapv:UnspecifiedMatching MONDO:0019885 distal trisomy 11q skos:exactMatch Orphanet:96103 Distal duplication 11q syndrome semapv:UnspecifiedMatching MONDO:0019885 distal trisomy 11q skos:exactMatch SCTID:764447009 semapv:UnspecifiedMatching MONDO:0019885 distal trisomy 11q skos:exactMatch UMLS:C2931797 semapv:UnspecifiedMatching MONDO:0019885 distal trisomy 11q skos:exactMatch mesh:C538294 semapv:UnspecifiedMatching MONDO:0019886 distal trisomy 13q skos:exactMatch MEDGEN:1639680 semapv:UnspecifiedMatching MONDO:0019886 distal trisomy 13q skos:exactMatch Orphanet:96105 Distal duplication 13q syndrome semapv:UnspecifiedMatching MONDO:0019886 distal trisomy 13q skos:exactMatch SCTID:764454003 semapv:UnspecifiedMatching MONDO:0019886 distal trisomy 13q skos:exactMatch UMLS:C4706933 semapv:UnspecifiedMatching MONDO:0019887 distal trisomy 16q skos:exactMatch MEDGEN:1633675 semapv:UnspecifiedMatching MONDO:0019887 distal trisomy 16q skos:exactMatch Orphanet:96106 Distal duplication 16q syndrome semapv:UnspecifiedMatching MONDO:0019887 distal trisomy 16q skos:exactMatch SCTID:764459008 semapv:UnspecifiedMatching MONDO:0019887 distal trisomy 16q skos:exactMatch UMLS:C4706934 semapv:UnspecifiedMatching MONDO:0019888 distal trisomy 20q skos:exactMatch MEDGEN:1636588 semapv:UnspecifiedMatching MONDO:0019888 distal trisomy 20q skos:exactMatch Orphanet:96107 Distal duplication 20q syndrome semapv:UnspecifiedMatching MONDO:0019888 distal trisomy 20q skos:exactMatch SCTID:764500002 semapv:UnspecifiedMatching MONDO:0019888 distal trisomy 20q skos:exactMatch UMLS:C4706935 semapv:UnspecifiedMatching MONDO:0019889 distal trisomy 22q skos:exactMatch MEDGEN:1642344 semapv:UnspecifiedMatching MONDO:0019889 distal trisomy 22q skos:exactMatch Orphanet:96109 Distal duplication 22q syndrome semapv:UnspecifiedMatching MONDO:0019889 distal trisomy 22q skos:exactMatch SCTID:764512003 semapv:UnspecifiedMatching MONDO:0019889 distal trisomy 22q skos:exactMatch UMLS:C4706936 semapv:UnspecifiedMatching MONDO:0019890 non-distal trisomy 9q skos:exactMatch MEDGEN:1631139 semapv:UnspecifiedMatching MONDO:0019890 non-distal trisomy 9q skos:exactMatch Orphanet:96112 Non-distal duplication 9q syndrome semapv:UnspecifiedMatching MONDO:0019890 non-distal trisomy 9q skos:exactMatch SCTID:764997000 semapv:UnspecifiedMatching MONDO:0019890 non-distal trisomy 9q skos:exactMatch UMLS:C4707261 semapv:UnspecifiedMatching MONDO:0019891 monosomy 22 skos:exactMatch MEDGEN:208644 semapv:UnspecifiedMatching MONDO:0019891 monosomy 22 skos:exactMatch Orphanet:96123 Monosomy 22 syndrome semapv:UnspecifiedMatching MONDO:0019891 monosomy 22 skos:exactMatch UMLS:C0795878 semapv:UnspecifiedMatching MONDO:0019892 distal monosomy 7p skos:exactMatch MEDGEN:1683031 semapv:UnspecifiedMatching MONDO:0019892 distal monosomy 7p skos:exactMatch Orphanet:96126 Distal deletion 7p syndrome semapv:UnspecifiedMatching MONDO:0019892 distal monosomy 7p skos:exactMatch UMLS:C5190515 semapv:UnspecifiedMatching MONDO:0019893 distal monosomy 19p13.3 skos:exactMatch MEDGEN:1665859 semapv:UnspecifiedMatching MONDO:0019893 distal monosomy 19p13.3 skos:exactMatch Orphanet:96129 Distal deletion 19p syndrome semapv:UnspecifiedMatching MONDO:0019893 distal monosomy 19p13.3 skos:exactMatch UMLS:C4749277 semapv:UnspecifiedMatching MONDO:0019894 obsolete non-distal monosomy 7p skos:exactMatch Orphanet:96136 OBSOLETE: Non-distal monosomy 7p semapv:UnspecifiedMatching MONDO:0019895 distal monosomy 4q skos:exactMatch MEDGEN:1680190 semapv:UnspecifiedMatching MONDO:0019895 distal monosomy 4q skos:exactMatch Orphanet:96145 Distal deletion 4q syndrome semapv:UnspecifiedMatching MONDO:0019895 distal monosomy 4q skos:exactMatch UMLS:C5190514 semapv:UnspecifiedMatching MONDO:0019896 Kleefstra syndrome due to 9q34 microdeletion skos:exactMatch Orphanet:96147 Kleefstra syndrome due to 9q34 microdeletion semapv:UnspecifiedMatching MONDO:0019897 distal monosomy 12q skos:exactMatch MEDGEN:1761314 semapv:UnspecifiedMatching MONDO:0019897 distal monosomy 12q skos:exactMatch Orphanet:96149 Distal deletion 12q syndrome semapv:UnspecifiedMatching MONDO:0019897 distal monosomy 12q skos:exactMatch UMLS:C5438460 semapv:UnspecifiedMatching MONDO:0019898 distal monosomy 14q skos:exactMatch MEDGEN:1656422 semapv:UnspecifiedMatching MONDO:0019898 distal monosomy 14q skos:exactMatch Orphanet:96150 Distal deletion 14q syndrome semapv:UnspecifiedMatching MONDO:0019898 distal monosomy 14q skos:exactMatch UMLS:C4749276 semapv:UnspecifiedMatching MONDO:0019899 obsolete distal monosomy 20q skos:exactMatch Orphanet:96152 OBSOLETE: Distal monosomy 20q semapv:UnspecifiedMatching MONDO:0019900 non-distal monosomy 12q skos:exactMatch MEDGEN:1679764 semapv:UnspecifiedMatching MONDO:0019900 non-distal monosomy 12q skos:exactMatch Orphanet:96160 Non-distal deletion 12q syndrome semapv:UnspecifiedMatching MONDO:0019900 non-distal monosomy 12q skos:exactMatch UMLS:C5190525 semapv:UnspecifiedMatching MONDO:0019902 monosomy 13q34 skos:exactMatch MEDGEN:1631901 semapv:UnspecifiedMatching MONDO:0019902 monosomy 13q34 skos:exactMatch Orphanet:96168 Monosomy 13q34 syndrome semapv:UnspecifiedMatching MONDO:0019902 monosomy 13q34 skos:exactMatch SCTID:766716004 semapv:UnspecifiedMatching MONDO:0019902 monosomy 13q34 skos:exactMatch UMLS:C4707797 semapv:UnspecifiedMatching MONDO:0019903 ring chromosome 2 skos:exactMatch MEDGEN:1642621 semapv:UnspecifiedMatching MONDO:0019903 ring chromosome 2 skos:exactMatch NCIT:C121981 ROSE Cluster 2 semapv:UnspecifiedMatching MONDO:0019903 ring chromosome 2 skos:exactMatch Orphanet:96171 Ring chromosome 2 syndrome semapv:UnspecifiedMatching MONDO:0019903 ring chromosome 2 skos:exactMatch SCTID:765485000 semapv:UnspecifiedMatching MONDO:0019903 ring chromosome 2 skos:exactMatch UMLS:C4707448 semapv:UnspecifiedMatching MONDO:0019904 ring chromosome 3 skos:exactMatch MEDGEN:1643677 semapv:UnspecifiedMatching MONDO:0019904 ring chromosome 3 skos:exactMatch NCIT:C121982 ROSE Cluster 3 semapv:UnspecifiedMatching MONDO:0019904 ring chromosome 3 skos:exactMatch Orphanet:96172 Ring chromosome 3 syndrome semapv:UnspecifiedMatching MONDO:0019904 ring chromosome 3 skos:exactMatch SCTID:765486004 semapv:UnspecifiedMatching MONDO:0019904 ring chromosome 3 skos:exactMatch UMLS:C4707449 semapv:UnspecifiedMatching MONDO:0019905 ring chromosome 9 skos:exactMatch MEDGEN:539244 semapv:UnspecifiedMatching MONDO:0019905 ring chromosome 9 skos:exactMatch Orphanet:96173 Ring chromosome 9 syndrome semapv:UnspecifiedMatching MONDO:0019905 ring chromosome 9 skos:exactMatch SCTID:60650002 semapv:UnspecifiedMatching MONDO:0019905 ring chromosome 9 skos:exactMatch UMLS:C0265430 semapv:UnspecifiedMatching MONDO:0019905 ring chromosome 9 skos:exactMatch mesh:C538022 semapv:UnspecifiedMatching MONDO:0019906 ring chromosome 11 skos:exactMatch MEDGEN:539256 semapv:UnspecifiedMatching MONDO:0019906 ring chromosome 11 skos:exactMatch Orphanet:96175 Ring chromosome 11 syndrome semapv:UnspecifiedMatching MONDO:0019906 ring chromosome 11 skos:exactMatch SCTID:111310003 semapv:UnspecifiedMatching MONDO:0019906 ring chromosome 11 skos:exactMatch UMLS:C0265444 semapv:UnspecifiedMatching MONDO:0019907 ring chromosome 13 skos:exactMatch MEDGEN:444146 semapv:UnspecifiedMatching MONDO:0019907 ring chromosome 13 skos:exactMatch Orphanet:96176 Ring chromosome 13 syndrome semapv:UnspecifiedMatching MONDO:0019907 ring chromosome 13 skos:exactMatch SCTID:726723004 semapv:UnspecifiedMatching MONDO:0019907 ring chromosome 13 skos:exactMatch UMLS:C2931808 semapv:UnspecifiedMatching MONDO:0019907 ring chromosome 13 skos:exactMatch mesh:C538303 semapv:UnspecifiedMatching MONDO:0019908 ring chromosome 15 skos:exactMatch MEDGEN:1646359 semapv:UnspecifiedMatching MONDO:0019908 ring chromosome 15 skos:exactMatch Orphanet:96177 Ring chromosome 15 syndrome semapv:UnspecifiedMatching MONDO:0019908 ring chromosome 15 skos:exactMatch SCTID:763405000 semapv:UnspecifiedMatching MONDO:0019908 ring chromosome 15 skos:exactMatch UMLS:C0795855 semapv:UnspecifiedMatching MONDO:0019908 ring chromosome 15 skos:exactMatch mesh:C538035 semapv:UnspecifiedMatching MONDO:0019909 ring chromosome 16 skos:exactMatch MEDGEN:1641955 semapv:UnspecifiedMatching MONDO:0019909 ring chromosome 16 skos:exactMatch Orphanet:96178 Ring chromosome 16 syndrome semapv:UnspecifiedMatching MONDO:0019909 ring chromosome 16 skos:exactMatch SCTID:763406004 semapv:UnspecifiedMatching MONDO:0019909 ring chromosome 16 skos:exactMatch UMLS:C4706449 semapv:UnspecifiedMatching MONDO:0019910 maternal uniparental disomy of chromosome 2 skos:exactMatch MEDGEN:1631626 semapv:UnspecifiedMatching MONDO:0019910 maternal uniparental disomy of chromosome 2 skos:exactMatch Orphanet:96179 Maternal uniparental disomy of chromosome 2 syndrome semapv:UnspecifiedMatching MONDO:0019910 maternal uniparental disomy of chromosome 2 skos:exactMatch SCTID:766237006 semapv:UnspecifiedMatching MONDO:0019910 maternal uniparental disomy of chromosome 2 skos:exactMatch UMLS:C4707718 semapv:UnspecifiedMatching MONDO:0019910 maternal uniparental disomy of chromosome 2 skos:exactMatch icd11.foundation:2067230711 Maternal uniparental disomy of chromosome 2 semapv:UnspecifiedMatching MONDO:0019911 maternal uniparental disomy of chromosome 4 skos:exactMatch MEDGEN:1644554 semapv:UnspecifiedMatching MONDO:0019911 maternal uniparental disomy of chromosome 4 skos:exactMatch Orphanet:96180 Maternal uniparental disomy of chromosome 4 syndrome semapv:UnspecifiedMatching MONDO:0019911 maternal uniparental disomy of chromosome 4 skos:exactMatch SCTID:766238001 semapv:UnspecifiedMatching MONDO:0019911 maternal uniparental disomy of chromosome 4 skos:exactMatch UMLS:C4707719 semapv:UnspecifiedMatching MONDO:0019911 maternal uniparental disomy of chromosome 4 skos:exactMatch icd11.foundation:358848660 Maternal uniparental disomy of chromosome 4 semapv:UnspecifiedMatching MONDO:0019912 maternal uniparental disomy of chromosome 6 skos:exactMatch MEDGEN:1638411 semapv:UnspecifiedMatching MONDO:0019912 maternal uniparental disomy of chromosome 6 skos:exactMatch Orphanet:96181 Maternal uniparental disomy of chromosome 6 syndrome semapv:UnspecifiedMatching MONDO:0019912 maternal uniparental disomy of chromosome 6 skos:exactMatch SCTID:766239009 semapv:UnspecifiedMatching MONDO:0019912 maternal uniparental disomy of chromosome 6 skos:exactMatch UMLS:C4707720 semapv:UnspecifiedMatching MONDO:0019912 maternal uniparental disomy of chromosome 6 skos:exactMatch icd11.foundation:423779048 Maternal uniparental disomy of chromosome 6 semapv:UnspecifiedMatching MONDO:0019913 silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 skos:exactMatch MEDGEN:1826074 semapv:UnspecifiedMatching MONDO:0019913 silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 skos:exactMatch Orphanet:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 semapv:UnspecifiedMatching MONDO:0019913 silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 skos:exactMatch UMLS:C5680247 semapv:UnspecifiedMatching MONDO:0019914 maternal uniparental disomy of chromosome 9 skos:exactMatch MEDGEN:1634619 semapv:UnspecifiedMatching MONDO:0019914 maternal uniparental disomy of chromosome 9 skos:exactMatch Orphanet:96183 Maternal uniparental disomy of chromosome 9 syndrome semapv:UnspecifiedMatching MONDO:0019914 maternal uniparental disomy of chromosome 9 skos:exactMatch SCTID:766240006 semapv:UnspecifiedMatching MONDO:0019914 maternal uniparental disomy of chromosome 9 skos:exactMatch UMLS:C4707721 semapv:UnspecifiedMatching MONDO:0019914 maternal uniparental disomy of chromosome 9 skos:exactMatch icd11.foundation:102102686 Maternal uniparental disomy of chromosome 9 semapv:UnspecifiedMatching MONDO:0019915 maternal uniparental disomy of chromosome 14 skos:exactMatch MEDGEN:1841563 semapv:UnspecifiedMatching MONDO:0019915 maternal uniparental disomy of chromosome 14 skos:exactMatch Orphanet:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 semapv:UnspecifiedMatching MONDO:0019915 maternal uniparental disomy of chromosome 14 skos:exactMatch UMLS:C5680248 semapv:UnspecifiedMatching MONDO:0019915 maternal uniparental disomy of chromosome 14 skos:exactMatch icd11.foundation:171193570 Maternal uniparental disomy of chromosome 14 semapv:UnspecifiedMatching MONDO:0019916 maternal uniparental disomy of chromosome 16 skos:exactMatch MEDGEN:1650997 semapv:UnspecifiedMatching MONDO:0019916 maternal uniparental disomy of chromosome 16 skos:exactMatch Orphanet:96185 Maternal uniparental disomy of chromosome 16 syndrome semapv:UnspecifiedMatching MONDO:0019916 maternal uniparental disomy of chromosome 16 skos:exactMatch UMLS:C4750769 semapv:UnspecifiedMatching MONDO:0019916 maternal uniparental disomy of chromosome 16 skos:exactMatch icd11.foundation:635736420 Maternal uniparental disomy of chromosome 16 semapv:UnspecifiedMatching MONDO:0019917 maternal uniparental disomy of chromosome 20 skos:exactMatch DOID:0111714 Mulchandani-Bhoj-Conlin syndrome semapv:UnspecifiedMatching MONDO:0019917 maternal uniparental disomy of chromosome 20 skos:exactMatch MEDGEN:909388 semapv:UnspecifiedMatching MONDO:0019917 maternal uniparental disomy of chromosome 20 skos:exactMatch OMIM:617352 mulchandani-bhoj-conlin syndrome semapv:UnspecifiedMatching MONDO:0019917 maternal uniparental disomy of chromosome 20 skos:exactMatch Orphanet:96186 Maternal uniparental disomy of chromosome 20 syndrome semapv:UnspecifiedMatching MONDO:0019917 maternal uniparental disomy of chromosome 20 skos:exactMatch SCTID:715735007 semapv:UnspecifiedMatching MONDO:0019917 maternal uniparental disomy of chromosome 20 skos:exactMatch UMLS:C4275029 semapv:UnspecifiedMatching MONDO:0019917 maternal uniparental disomy of chromosome 20 skos:exactMatch icd11.foundation:700797720 Maternal uniparental disomy of chromosome 20 semapv:UnspecifiedMatching MONDO:0019918 maternal uniparental disomy of chromosome 21 skos:exactMatch MEDGEN:1673526 semapv:UnspecifiedMatching MONDO:0019918 maternal uniparental disomy of chromosome 21 skos:exactMatch Orphanet:96187 Maternal uniparental disomy of chromosome 21 syndrome semapv:UnspecifiedMatching MONDO:0019918 maternal uniparental disomy of chromosome 21 skos:exactMatch UMLS:C5190523 semapv:UnspecifiedMatching MONDO:0019918 maternal uniparental disomy of chromosome 21 skos:exactMatch icd11.foundation:553200266 Maternal uniparental disomy of chromosome 21 semapv:UnspecifiedMatching MONDO:0019919 maternal uniparental disomy of chromosome 22 skos:exactMatch MEDGEN:1683631 semapv:UnspecifiedMatching MONDO:0019919 maternal uniparental disomy of chromosome 22 skos:exactMatch Orphanet:96188 Maternal uniparental disomy of chromosome 22 syndrome semapv:UnspecifiedMatching MONDO:0019919 maternal uniparental disomy of chromosome 22 skos:exactMatch UMLS:C5190524 semapv:UnspecifiedMatching MONDO:0019919 maternal uniparental disomy of chromosome 22 skos:exactMatch icd11.foundation:752412918 Maternal uniparental disomy of chromosome 22 semapv:UnspecifiedMatching MONDO:0019920 paternal uniparental disomy of chromosome 5 skos:exactMatch MEDGEN:1652849 semapv:UnspecifiedMatching MONDO:0019920 paternal uniparental disomy of chromosome 5 skos:exactMatch Orphanet:96190 Paternal uniparental disomy of chromosome 5 syndrome semapv:UnspecifiedMatching MONDO:0019920 paternal uniparental disomy of chromosome 5 skos:exactMatch UMLS:C4749377 semapv:UnspecifiedMatching MONDO:0019920 paternal uniparental disomy of chromosome 5 skos:exactMatch icd11.foundation:1224981751 Paternal uniparental disomy of chromosome 5 semapv:UnspecifiedMatching MONDO:0019921 paternal uniparental disomy of chromosome 6 skos:exactMatch MEDGEN:1662050 semapv:UnspecifiedMatching MONDO:0019921 paternal uniparental disomy of chromosome 6 skos:exactMatch Orphanet:96191 Paternal uniparental disomy of chromosome 6 syndrome semapv:UnspecifiedMatching MONDO:0019921 paternal uniparental disomy of chromosome 6 skos:exactMatch UMLS:C4749378 semapv:UnspecifiedMatching MONDO:0019921 paternal uniparental disomy of chromosome 6 skos:exactMatch icd11.foundation:1267556610 Paternal uniparental disomy of chromosome 6 semapv:UnspecifiedMatching MONDO:0019922 paternal uniparental disomy of chromosome 7 skos:exactMatch MEDGEN:1634443 semapv:UnspecifiedMatching MONDO:0019922 paternal uniparental disomy of chromosome 7 skos:exactMatch Orphanet:96192 Paternal uniparental disomy of chromosome 7 syndrome semapv:UnspecifiedMatching MONDO:0019922 paternal uniparental disomy of chromosome 7 skos:exactMatch SCTID:766721001 semapv:UnspecifiedMatching MONDO:0019922 paternal uniparental disomy of chromosome 7 skos:exactMatch UMLS:C4707802 semapv:UnspecifiedMatching MONDO:0019922 paternal uniparental disomy of chromosome 7 skos:exactMatch icd11.foundation:1517671165 Paternal uniparental disomy of chromosome 7 semapv:UnspecifiedMatching MONDO:0019923 Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 skos:exactMatch MEDGEN:1843183 semapv:UnspecifiedMatching MONDO:0019923 Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 skos:exactMatch Orphanet:96193 Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 semapv:UnspecifiedMatching MONDO:0019923 Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 skos:exactMatch UMLS:C5680249 semapv:UnspecifiedMatching MONDO:0019924 paternal uniparental disomy of chromosome 20 skos:exactMatch MEDGEN:897979 semapv:UnspecifiedMatching MONDO:0019924 paternal uniparental disomy of chromosome 20 skos:exactMatch Orphanet:96194 Paternal uniparental disomy of chromosome 20 syndrome semapv:UnspecifiedMatching MONDO:0019924 paternal uniparental disomy of chromosome 20 skos:exactMatch SCTID:715736008 semapv:UnspecifiedMatching MONDO:0019924 paternal uniparental disomy of chromosome 20 skos:exactMatch UMLS:C4275028 semapv:UnspecifiedMatching MONDO:0019924 paternal uniparental disomy of chromosome 20 skos:exactMatch icd11.foundation:1406068218 Paternal uniparental disomy of chromosome 20 semapv:UnspecifiedMatching MONDO:0019925 paternal uniparental disomy of chromosome 21 skos:exactMatch MEDGEN:1647612 semapv:UnspecifiedMatching MONDO:0019925 paternal uniparental disomy of chromosome 21 skos:exactMatch Orphanet:96195 Paternal uniparental disomy of chromosome 21 syndrome semapv:UnspecifiedMatching MONDO:0019925 paternal uniparental disomy of chromosome 21 skos:exactMatch SCTID:766720000 semapv:UnspecifiedMatching MONDO:0019925 paternal uniparental disomy of chromosome 21 skos:exactMatch UMLS:C4707801 semapv:UnspecifiedMatching MONDO:0019925 paternal uniparental disomy of chromosome 21 skos:exactMatch icd11.foundation:2038740231 Paternal uniparental disomy of chromosome 21 semapv:UnspecifiedMatching MONDO:0019926 X small rings skos:exactMatch MEDGEN:1641475 semapv:UnspecifiedMatching MONDO:0019926 X small rings skos:exactMatch Orphanet:96201 X small rings syndrome semapv:UnspecifiedMatching MONDO:0019926 X small rings skos:exactMatch SCTID:766760004 semapv:UnspecifiedMatching MONDO:0019926 X small rings skos:exactMatch UMLS:C4707824 semapv:UnspecifiedMatching MONDO:0019927 growth hormone-producing pituitary gland neoplasm skos:exactMatch MEDGEN:866320 semapv:UnspecifiedMatching MONDO:0019927 growth hormone-producing pituitary gland neoplasm skos:exactMatch UMLS:C4018860 semapv:UnspecifiedMatching MONDO:0019928 48,XXXY syndrome skos:exactMatch MEDGEN:452344 semapv:UnspecifiedMatching MONDO:0019928 48,XXXY syndrome skos:exactMatch NCIT:C89799 XXXY Syndrome semapv:UnspecifiedMatching MONDO:0019928 48,XXXY syndrome skos:exactMatch Orphanet:96263 48,XXXY syndrome semapv:UnspecifiedMatching MONDO:0019928 48,XXXY syndrome skos:exactMatch SCTID:78317008 semapv:UnspecifiedMatching MONDO:0019928 48,XXXY syndrome skos:exactMatch UMLS:C0265498 semapv:UnspecifiedMatching MONDO:0019929 49,XXXXY syndrome skos:exactMatch MEDGEN:75573 semapv:UnspecifiedMatching MONDO:0019929 49,XXXXY syndrome skos:exactMatch NCIT:C185635 49,XXXXY Syndrome semapv:UnspecifiedMatching MONDO:0019929 49,XXXXY syndrome skos:exactMatch Orphanet:96264 49,XXXXY syndrome semapv:UnspecifiedMatching MONDO:0019929 49,XXXXY syndrome skos:exactMatch SCTID:38847009 semapv:UnspecifiedMatching MONDO:0019929 49,XXXXY syndrome skos:exactMatch UMLS:C0265499 semapv:UnspecifiedMatching MONDO:0019930 Leydig cell hypoplasia due to complete LH resistance skos:exactMatch DOID:0112260 Leydig cell hypoplasia type I semapv:UnspecifiedMatching MONDO:0019930 Leydig cell hypoplasia due to complete LH resistance skos:exactMatch MEDGEN:1776152 semapv:UnspecifiedMatching MONDO:0019930 Leydig cell hypoplasia due to complete LH resistance skos:exactMatch Orphanet:96265 Leydig cell hypoplasia due to complete LH resistance semapv:UnspecifiedMatching MONDO:0019930 Leydig cell hypoplasia due to complete LH resistance skos:exactMatch UMLS:C5438974 semapv:UnspecifiedMatching MONDO:0019931 Leydig cell hypoplasia due to partial LH resistance skos:exactMatch DOID:0112261 Leydig cell hypoplasia type II semapv:UnspecifiedMatching MONDO:0019931 Leydig cell hypoplasia due to partial LH resistance skos:exactMatch MEDGEN:1739565 semapv:UnspecifiedMatching MONDO:0019931 Leydig cell hypoplasia due to partial LH resistance skos:exactMatch Orphanet:96266 Leydig cell hypoplasia due to partial LH resistance semapv:UnspecifiedMatching MONDO:0019931 Leydig cell hypoplasia due to partial LH resistance skos:exactMatch UMLS:C5438975 semapv:UnspecifiedMatching MONDO:0019932 isolated partial vaginal agenesis skos:exactMatch ICD10CM:Q52.0 Congenital absence of vagina semapv:UnspecifiedMatching MONDO:0019932 isolated partial vaginal agenesis skos:exactMatch MEDGEN:687783 semapv:UnspecifiedMatching MONDO:0019932 isolated partial vaginal agenesis skos:exactMatch Orphanet:96269 Isolated partial vaginal agenesis semapv:UnspecifiedMatching MONDO:0019932 isolated partial vaginal agenesis skos:exactMatch SCTID:87380008 semapv:UnspecifiedMatching MONDO:0019932 isolated partial vaginal agenesis skos:exactMatch UMLS:C1261251 semapv:UnspecifiedMatching MONDO:0019932 isolated partial vaginal agenesis skos:exactMatch icd11.foundation:15782 Absence of vagina semapv:UnspecifiedMatching MONDO:0019933 acromegaly skos:exactMatch DOID:2449 acromegaly semapv:UnspecifiedMatching MONDO:0019933 acromegaly skos:exactMatch EFO:1001485 semapv:UnspecifiedMatching MONDO:0019933 acromegaly skos:exactMatch MEDGEN:1304 semapv:UnspecifiedMatching MONDO:0019933 acromegaly skos:exactMatch NCIT:C84533 Acromegaly semapv:UnspecifiedMatching MONDO:0019933 acromegaly skos:exactMatch Orphanet:963 Acromegaly semapv:UnspecifiedMatching MONDO:0019933 acromegaly skos:exactMatch SCTID:74107003 semapv:UnspecifiedMatching MONDO:0019933 acromegaly skos:exactMatch UMLS:C0001206 semapv:UnspecifiedMatching MONDO:0019933 acromegaly skos:exactMatch mesh:D000172 semapv:UnspecifiedMatching MONDO:0019934 polyploidy skos:exactMatch MEDGEN:18567 semapv:UnspecifiedMatching MONDO:0019934 polyploidy skos:exactMatch Orphanet:96321 Polyploidy syndrome semapv:UnspecifiedMatching MONDO:0019934 polyploidy skos:exactMatch SCTID:72991005 semapv:UnspecifiedMatching MONDO:0019934 polyploidy skos:exactMatch UMLS:C0032578 semapv:UnspecifiedMatching MONDO:0019934 polyploidy skos:exactMatch icd11.foundation:1286128770 Polyploidies semapv:UnspecifiedMatching MONDO:0019934 polyploidy skos:exactMatch mesh:D011123 semapv:UnspecifiedMatching MONDO:0019935 isochromosome Y skos:exactMatch MEDGEN:1876660 semapv:UnspecifiedMatching MONDO:0019935 isochromosome Y skos:exactMatch Orphanet:96325 Isochromosome Y syndrome semapv:UnspecifiedMatching MONDO:0019935 isochromosome Y skos:exactMatch UMLS:C6012238 semapv:UnspecifiedMatching MONDO:0019935 isochromosome Y skos:exactMatch icd11.foundation:939997307 Isochromosome Y semapv:UnspecifiedMatching MONDO:0019936 obsolete rare otorhinolaryngological malformation skos:exactMatch Orphanet:96333 Rare otorhinolaryngological malformation semapv:UnspecifiedMatching MONDO:0019937 obsolete rare gynecologic or obstetric disease skos:exactMatch Orphanet:96344 Rare gynecologic or obstetric disease semapv:UnspecifiedMatching MONDO:0019938 anorectal malformation skos:exactMatch Orphanet:96346 Anorectal malformation semapv:UnspecifiedMatching MONDO:0019938 anorectal malformation skos:exactMatch SCTID:33225004 semapv:UnspecifiedMatching MONDO:0019938 anorectal malformation skos:exactMatch icd11.foundation:942572025 Anorectal malformations semapv:UnspecifiedMatching MONDO:0019938 anorectal malformation skos:exactMatch mesh:C537771 semapv:UnspecifiedMatching MONDO:0019939 early-onset schizophrenia skos:exactMatch MEDGEN:1800824 semapv:UnspecifiedMatching MONDO:0019939 early-onset schizophrenia skos:exactMatch UMLS:C1656427 semapv:UnspecifiedMatching MONDO:0019940 hypertrichosis-acromegaloid facial appearance syndrome skos:exactMatch SCTID:721837000 semapv:UnspecifiedMatching MONDO:0019941 hereditary sensory and autonomic neuropathy type 2 skos:exactMatch DOID:0070161 hereditary sensory and autonomic neuropathy type 2 semapv:UnspecifiedMatching MONDO:0019941 hereditary sensory and autonomic neuropathy type 2 skos:exactMatch MEDGEN:42513 semapv:UnspecifiedMatching MONDO:0019941 hereditary sensory and autonomic neuropathy type 2 skos:exactMatch Orphanet:970 Hereditary sensory and autonomic neuropathy type 2 semapv:UnspecifiedMatching MONDO:0019941 hereditary sensory and autonomic neuropathy type 2 skos:exactMatch SCTID:398148000 semapv:UnspecifiedMatching MONDO:0019941 hereditary sensory and autonomic neuropathy type 2 skos:exactMatch UMLS:C0020072 semapv:UnspecifiedMatching MONDO:0019942 distal arthrogryposis skos:exactMatch DOID:0050646 distal arthrogryposis semapv:UnspecifiedMatching MONDO:0019942 distal arthrogryposis skos:exactMatch MEDGEN:120512 semapv:UnspecifiedMatching MONDO:0019942 distal arthrogryposis skos:exactMatch OMIMPS:108120 Arthrogryposis, distal semapv:UnspecifiedMatching MONDO:0019942 distal arthrogryposis skos:exactMatch Orphanet:97120 Distal arthrogryposis semapv:UnspecifiedMatching MONDO:0019942 distal arthrogryposis skos:exactMatch SCTID:24269006 semapv:UnspecifiedMatching MONDO:0019942 distal arthrogryposis skos:exactMatch UMLS:C0265213 semapv:UnspecifiedMatching MONDO:0019942 distal arthrogryposis skos:exactMatch icd11.foundation:1265239690 Distal arthrogryposis semapv:UnspecifiedMatching MONDO:0019943 hereditary continuous muscle fiber activity skos:exactMatch MEDGEN:331775 semapv:UnspecifiedMatching MONDO:0019943 hereditary continuous muscle fiber activity skos:exactMatch Orphanet:972 Hereditary continuous muscle fiber activity semapv:UnspecifiedMatching MONDO:0019943 hereditary continuous muscle fiber activity skos:exactMatch UMLS:C1834559 semapv:UnspecifiedMatching MONDO:0019944 Eisenmenger syndrome skos:exactMatch EFO:0009200 semapv:UnspecifiedMatching MONDO:0019944 Eisenmenger syndrome skos:exactMatch ICD10CM:I27.83 Eisenmenger's syndrome semapv:UnspecifiedMatching MONDO:0019944 Eisenmenger syndrome skos:exactMatch MEDGEN:4479 semapv:UnspecifiedMatching MONDO:0019944 Eisenmenger syndrome skos:exactMatch NCIT:C84390 Eisenmenger Syndrome semapv:UnspecifiedMatching MONDO:0019944 Eisenmenger syndrome skos:exactMatch Orphanet:97214 Eisenmenger syndrome semapv:UnspecifiedMatching MONDO:0019944 Eisenmenger syndrome skos:exactMatch SCTID:445928005 semapv:UnspecifiedMatching MONDO:0019944 Eisenmenger syndrome skos:exactMatch UMLS:C0013743 semapv:UnspecifiedMatching MONDO:0019944 Eisenmenger syndrome skos:exactMatch icd11.foundation:581886860 Eisenmenger syndrome semapv:UnspecifiedMatching MONDO:0019944 Eisenmenger syndrome skos:exactMatch mesh:D004541 semapv:UnspecifiedMatching MONDO:0019945 solar urticaria skos:exactMatch ICD10CM:L56.3 Solar urticaria semapv:UnspecifiedMatching MONDO:0019945 solar urticaria skos:exactMatch MEDGEN:538004 semapv:UnspecifiedMatching MONDO:0019945 solar urticaria skos:exactMatch Orphanet:97230 Solar urticaria semapv:UnspecifiedMatching MONDO:0019945 solar urticaria skos:exactMatch SCTID:10347006 semapv:UnspecifiedMatching MONDO:0019945 solar urticaria skos:exactMatch UMLS:C0263610 semapv:UnspecifiedMatching MONDO:0019945 solar urticaria skos:exactMatch icd11.foundation:64163683 Solar urticaria semapv:UnspecifiedMatching MONDO:0019947 rippling muscle disease 2 skos:exactMatch DOID:0060255 rippling muscle disease 2 semapv:UnspecifiedMatching MONDO:0019947 rippling muscle disease 2 skos:exactMatch MEDGEN:371357 semapv:UnspecifiedMatching MONDO:0019947 rippling muscle disease 2 skos:exactMatch NCIT:C148325 Rippling Muscle Disease 2 semapv:UnspecifiedMatching MONDO:0019947 rippling muscle disease 2 skos:exactMatch OMIM:606072 rippling muscle disease 2 semapv:UnspecifiedMatching MONDO:0019947 rippling muscle disease 2 skos:exactMatch Orphanet:97238 Rippling muscle disease semapv:UnspecifiedMatching MONDO:0019947 rippling muscle disease 2 skos:exactMatch UMLS:C1832560 semapv:UnspecifiedMatching MONDO:0019948 reducing body myopathy skos:exactMatch DOID:0080090 reducing body myopathy 1A semapv:UnspecifiedMatching MONDO:0019948 reducing body myopathy skos:exactMatch MEDGEN:543081 semapv:UnspecifiedMatching MONDO:0019948 reducing body myopathy skos:exactMatch Orphanet:97239 Reducing body myopathy semapv:UnspecifiedMatching MONDO:0019948 reducing body myopathy skos:exactMatch SCTID:42779002 semapv:UnspecifiedMatching MONDO:0019948 reducing body myopathy skos:exactMatch UMLS:C0270970 semapv:UnspecifiedMatching MONDO:0019948 reducing body myopathy skos:exactMatch icd11.foundation:397698784 Reducing body myopathy semapv:UnspecifiedMatching MONDO:0019949 zebra body myopathy skos:exactMatch MEDGEN:543080 semapv:UnspecifiedMatching MONDO:0019949 zebra body myopathy skos:exactMatch Orphanet:97240 Zebra body myopathy semapv:UnspecifiedMatching MONDO:0019949 zebra body myopathy skos:exactMatch SCTID:34513009 semapv:UnspecifiedMatching MONDO:0019949 zebra body myopathy skos:exactMatch UMLS:C0270969 semapv:UnspecifiedMatching MONDO:0019949 zebra body myopathy skos:exactMatch icd11.foundation:1699813614 Zebra body myopathy semapv:UnspecifiedMatching MONDO:0019950 congenital muscular dystrophy skos:exactMatch DOID:0050557 congenital muscular dystrophy semapv:UnspecifiedMatching MONDO:0019950 congenital muscular dystrophy skos:exactMatch MEDGEN:147063 semapv:UnspecifiedMatching MONDO:0019950 congenital muscular dystrophy skos:exactMatch Orphanet:97242 Congenital muscular dystrophy semapv:UnspecifiedMatching MONDO:0019950 congenital muscular dystrophy skos:exactMatch SCTID:240059009 semapv:UnspecifiedMatching MONDO:0019950 congenital muscular dystrophy skos:exactMatch UMLS:C0699743 semapv:UnspecifiedMatching MONDO:0019950 congenital muscular dystrophy skos:exactMatch icd11.foundation:396687076 Congenital muscular dystrophy semapv:UnspecifiedMatching MONDO:0019951 rigid spine syndrome skos:exactMatch Orphanet:97244 Rigid spine syndrome semapv:UnspecifiedMatching MONDO:0019951 rigid spine syndrome skos:exactMatch icd11.foundation:801727141 Rigid spine syndrome semapv:UnspecifiedMatching MONDO:0019951 rigid spine syndrome skos:exactMatch mesh:C535683 semapv:UnspecifiedMatching MONDO:0019952 congenital myopathy skos:exactMatch DOID:0081337 congenital myopathy semapv:UnspecifiedMatching MONDO:0019952 congenital myopathy skos:exactMatch MEDGEN:124381 semapv:UnspecifiedMatching MONDO:0019952 congenital myopathy skos:exactMatch OMIMPS:117000 Myopathy, congenital (see also nemaline myopathy ({PS256030}), myofibrillar myopathy ({PS601419}), and centronuclear myopathy ({PS160150}) semapv:UnspecifiedMatching MONDO:0019952 congenital myopathy skos:exactMatch Orphanet:97245 Congenital myopathy semapv:UnspecifiedMatching MONDO:0019952 congenital myopathy skos:exactMatch UMLS:C0270960 semapv:UnspecifiedMatching MONDO:0019952 congenital myopathy skos:exactMatch icd11.foundation:1185572073 Congenital myopathies semapv:UnspecifiedMatching MONDO:0019953 mega-cisterna magna skos:exactMatch MEDGEN:344031 semapv:UnspecifiedMatching MONDO:0019953 mega-cisterna magna skos:exactMatch Orphanet:97252 Mega-cisterna magna semapv:UnspecifiedMatching MONDO:0019953 mega-cisterna magna skos:exactMatch UMLS:C1853377 semapv:UnspecifiedMatching MONDO:0019954 pancreatic neuroendocrine tumor skos:exactMatch EFO:1000045 semapv:UnspecifiedMatching MONDO:0019954 pancreatic neuroendocrine tumor skos:exactMatch MEDGEN:277875 semapv:UnspecifiedMatching MONDO:0019954 pancreatic neuroendocrine tumor skos:exactMatch NCIT:C27720 Pancreatic Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO:0019954 pancreatic neuroendocrine tumor skos:exactMatch Orphanet:97253 Neuroendocrine tumor of pancreas semapv:UnspecifiedMatching MONDO:0019954 pancreatic neuroendocrine tumor skos:exactMatch UMLS:C1337011 semapv:UnspecifiedMatching MONDO:0019955 GRFoma skos:exactMatch MEDGEN:577391 semapv:UnspecifiedMatching MONDO:0019955 GRFoma skos:exactMatch Orphanet:97261 GRFoma semapv:UnspecifiedMatching MONDO:0019955 GRFoma skos:exactMatch UMLS:C0346406 semapv:UnspecifiedMatching MONDO:0019955 GRFoma skos:exactMatch icd11.foundation:1245945716 GRFoma semapv:UnspecifiedMatching MONDO:0019956 encephalitis skos:exactMatch DOID:9588 encephalitis semapv:UnspecifiedMatching MONDO:0019956 encephalitis skos:exactMatch ICD10CM:A85 Other viral encephalitis, not elsewhere classified semapv:UnspecifiedMatching MONDO:0019956 encephalitis skos:exactMatch MEDGEN:4027 semapv:UnspecifiedMatching MONDO:0019956 encephalitis skos:exactMatch NCIT:C26760 Encephalitis semapv:UnspecifiedMatching MONDO:0019956 encephalitis skos:exactMatch Orphanet:97275 Encephalitis semapv:UnspecifiedMatching MONDO:0019956 encephalitis skos:exactMatch SCTID:45170000 semapv:UnspecifiedMatching MONDO:0019956 encephalitis skos:exactMatch UMLS:C0014038 semapv:UnspecifiedMatching MONDO:0019956 encephalitis skos:exactMatch mesh:D004660 semapv:UnspecifiedMatching MONDO:0019957 PPoma skos:exactMatch MEDGEN:577392 semapv:UnspecifiedMatching MONDO:0019957 PPoma skos:exactMatch NCIT:C67453 Pancreatic Polypeptide Tumor semapv:UnspecifiedMatching MONDO:0019957 PPoma skos:exactMatch Orphanet:97278 PPoma semapv:UnspecifiedMatching MONDO:0019957 PPoma skos:exactMatch SCTID:255039001 semapv:UnspecifiedMatching MONDO:0019957 PPoma skos:exactMatch UMLS:C0346407 semapv:UnspecifiedMatching MONDO:0019957 PPoma skos:exactMatch icd11.foundation:1180851464 PPoma semapv:UnspecifiedMatching MONDO:0019959 glucagonoma skos:exactMatch MEDGEN:4908 semapv:UnspecifiedMatching MONDO:0019959 glucagonoma skos:exactMatch NCIT:C95597 Pancreatic Glucagonoma semapv:UnspecifiedMatching MONDO:0019959 glucagonoma skos:exactMatch Orphanet:97280 Glucagonoma semapv:UnspecifiedMatching MONDO:0019959 glucagonoma skos:exactMatch SCTID:16424000 semapv:UnspecifiedMatching MONDO:0019959 glucagonoma skos:exactMatch UMLS:C0017689 semapv:UnspecifiedMatching MONDO:0019959 glucagonoma skos:exactMatch icd11.foundation:1918063179 Glucagonoma semapv:UnspecifiedMatching MONDO:0019959 glucagonoma skos:exactMatch icd11.foundation:2121897507 Glucagonoma of pancreas semapv:UnspecifiedMatching MONDO:0019959 glucagonoma skos:exactMatch mesh:D005935 semapv:UnspecifiedMatching MONDO:0019960 VIPoma skos:exactMatch DOID:5574 VIPoma semapv:UnspecifiedMatching MONDO:0019960 VIPoma skos:exactMatch MEDGEN:41532 semapv:UnspecifiedMatching MONDO:0019960 VIPoma skos:exactMatch NCIT:C26749 VIP-Producing Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO:0019960 VIPoma skos:exactMatch Orphanet:97282 VIPoma semapv:UnspecifiedMatching MONDO:0019960 VIPoma skos:exactMatch SCTID:253005002 semapv:UnspecifiedMatching MONDO:0019960 VIPoma skos:exactMatch UMLS:C0011993 semapv:UnspecifiedMatching MONDO:0019960 VIPoma skos:exactMatch icd11.foundation:20634476 VIPoma semapv:UnspecifiedMatching MONDO:0019960 VIPoma skos:exactMatch mesh:D003969 semapv:UnspecifiedMatching MONDO:0019962 thyroid lymphoma skos:exactMatch DOID:10011 thyroid lymphoma semapv:UnspecifiedMatching MONDO:0019962 thyroid lymphoma skos:exactMatch MEDGEN:234947 semapv:UnspecifiedMatching MONDO:0019962 thyroid lymphoma skos:exactMatch NCIT:C5265 Thyroid Gland Lymphoma semapv:UnspecifiedMatching MONDO:0019962 thyroid lymphoma skos:exactMatch Orphanet:97285 Thyroid lymphoma semapv:UnspecifiedMatching MONDO:0019962 thyroid lymphoma skos:exactMatch UMLS:C1336753 semapv:UnspecifiedMatching MONDO:0019962 thyroid lymphoma skos:exactMatch icd11.foundation:571063415 Thyroid lymphoma semapv:UnspecifiedMatching MONDO:0019963 bronchial endocrine tumor skos:exactMatch Orphanet:97287 Bronchial neuroendocrine tumor semapv:UnspecifiedMatching MONDO:0019964 thymic neuroendocrine tumor skos:exactMatch MEDGEN:234428 semapv:UnspecifiedMatching MONDO:0019964 thymic neuroendocrine tumor skos:exactMatch NCIT:C6430 Thymus Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO:0019964 thymic neuroendocrine tumor skos:exactMatch Orphanet:97289 Thymic neuroendocrine tumor semapv:UnspecifiedMatching MONDO:0019964 thymic neuroendocrine tumor skos:exactMatch UMLS:C1336746 semapv:UnspecifiedMatching MONDO:0019965 obsolete rare benign ovarian tumor skos:exactMatch Orphanet:97293 Rare benign ovarian tumor semapv:UnspecifiedMatching MONDO:0019967 Kienbock disease skos:exactMatch MEDGEN:44028 semapv:UnspecifiedMatching MONDO:0019967 Kienbock disease skos:exactMatch Orphanet:97332 Kienbock disease semapv:UnspecifiedMatching MONDO:0019967 Kienbock disease skos:exactMatch UMLS:C0022682 semapv:UnspecifiedMatching MONDO:0019969 panner disease skos:exactMatch MEDGEN:1673235 semapv:UnspecifiedMatching MONDO:0019969 panner disease skos:exactMatch Orphanet:97336 Panner disease semapv:UnspecifiedMatching MONDO:0019969 panner disease skos:exactMatch UMLS:C4759831 semapv:UnspecifiedMatching MONDO:0019970 Sinding-Larsen-Johansson disease skos:exactMatch MEDGEN:1672493 semapv:UnspecifiedMatching MONDO:0019970 Sinding-Larsen-Johansson disease skos:exactMatch Orphanet:97337 Sinding-Larsen-Johansson disease semapv:UnspecifiedMatching MONDO:0019970 Sinding-Larsen-Johansson disease skos:exactMatch UMLS:C1504517 semapv:UnspecifiedMatching MONDO:0019970 Sinding-Larsen-Johansson disease skos:exactMatch icd11.foundation:1733785551 Sinding-Larsen-Johansson disease semapv:UnspecifiedMatching MONDO:0019971 melanoma of soft tissue skos:exactMatch Orphanet:97338 Melanoma of soft tissue semapv:UnspecifiedMatching MONDO:0019972 dural sinus malformation skos:exactMatch MEDGEN:824993 semapv:UnspecifiedMatching MONDO:0019972 dural sinus malformation skos:exactMatch Orphanet:97339 Dural sinus malformation semapv:UnspecifiedMatching MONDO:0019972 dural sinus malformation skos:exactMatch UMLS:C3839148 semapv:UnspecifiedMatching MONDO:0019972 dural sinus malformation skos:exactMatch icd11.foundation:454640405 Dural sinus malformation semapv:UnspecifiedMatching MONDO:0019973 persistent placoid maculopathy skos:exactMatch MEDGEN:930492 semapv:UnspecifiedMatching MONDO:0019973 persistent placoid maculopathy skos:exactMatch Orphanet:97341 Persistent placoid maculopathy semapv:UnspecifiedMatching MONDO:0019973 persistent placoid maculopathy skos:exactMatch SCTID:719297006 semapv:UnspecifiedMatching MONDO:0019973 persistent placoid maculopathy skos:exactMatch UMLS:C4304823 semapv:UnspecifiedMatching MONDO:0019973 persistent placoid maculopathy skos:exactMatch icd11.foundation:1143591468 Persistent placoid maculopathy semapv:UnspecifiedMatching MONDO:0019975 pellagra skos:exactMatch DOID:8457 pellagra semapv:UnspecifiedMatching MONDO:0019975 pellagra skos:exactMatch MEDGEN:45364 semapv:UnspecifiedMatching MONDO:0019975 pellagra skos:exactMatch Orphanet:97352 Pellagra semapv:UnspecifiedMatching MONDO:0019975 pellagra skos:exactMatch SCTID:418279001 semapv:UnspecifiedMatching MONDO:0019975 pellagra skos:exactMatch UMLS:C0030783 semapv:UnspecifiedMatching MONDO:0019975 pellagra skos:exactMatch icd11.foundation:1108993080 Pellagra semapv:UnspecifiedMatching MONDO:0019975 pellagra skos:exactMatch mesh:D010383 semapv:UnspecifiedMatching MONDO:0019976 dementia pugilistica skos:exactMatch DOID:0081291 chronic traumatic encephalopathy semapv:UnspecifiedMatching MONDO:0019976 dementia pugilistica skos:exactMatch MEDGEN:508441 semapv:UnspecifiedMatching MONDO:0019976 dementia pugilistica skos:exactMatch Orphanet:97353 Dementia pugilistica semapv:UnspecifiedMatching MONDO:0019976 dementia pugilistica skos:exactMatch SCTID:230283005 semapv:UnspecifiedMatching MONDO:0019976 dementia pugilistica skos:exactMatch UMLS:C0149843 semapv:UnspecifiedMatching MONDO:0019976 dementia pugilistica skos:exactMatch mesh:D020208 semapv:UnspecifiedMatching MONDO:0019977 parkinsonism with dementia of Guadeloupe skos:exactMatch MEDGEN:899794 semapv:UnspecifiedMatching MONDO:0019977 parkinsonism with dementia of Guadeloupe skos:exactMatch Orphanet:97355 Caribbean parkinsonism semapv:UnspecifiedMatching MONDO:0019977 parkinsonism with dementia of Guadeloupe skos:exactMatch SCTID:715737004 semapv:UnspecifiedMatching MONDO:0019977 parkinsonism with dementia of Guadeloupe skos:exactMatch UMLS:C4275027 semapv:UnspecifiedMatching MONDO:0019977 parkinsonism with dementia of Guadeloupe skos:exactMatch icd11.foundation:773801248 Parkinsonism with dementia of Guadeloupe semapv:UnspecifiedMatching MONDO:0019978 Robinow syndrome skos:exactMatch DOID:0060254 Robinow syndrome semapv:UnspecifiedMatching MONDO:0019978 Robinow syndrome skos:exactMatch MEDGEN:78535 semapv:UnspecifiedMatching MONDO:0019978 Robinow syndrome skos:exactMatch NCIT:C85048 Robinow Syndrome semapv:UnspecifiedMatching MONDO:0019978 Robinow syndrome skos:exactMatch OMIMPS:268310 Robinow syndrome semapv:UnspecifiedMatching MONDO:0019978 Robinow syndrome skos:exactMatch Orphanet:97360 Robinow syndrome semapv:UnspecifiedMatching MONDO:0019978 Robinow syndrome skos:exactMatch UMLS:C0265205 semapv:UnspecifiedMatching MONDO:0019978 Robinow syndrome skos:exactMatch icd11.foundation:1010745722 Robinow syndrome semapv:UnspecifiedMatching MONDO:0019979 renal hypoplasia, unilateral skos:exactMatch ICD10CM:Q60.3 Renal hypoplasia, unilateral semapv:UnspecifiedMatching MONDO:0019979 renal hypoplasia, unilateral skos:exactMatch MEDGEN:609098 semapv:UnspecifiedMatching MONDO:0019979 renal hypoplasia, unilateral skos:exactMatch Orphanet:97361 Renal hypoplasia, unilateral semapv:UnspecifiedMatching MONDO:0019979 renal hypoplasia, unilateral skos:exactMatch UMLS:C0431691 semapv:UnspecifiedMatching MONDO:0019980 renal hypoplasia, bilateral skos:exactMatch ICD10CM:Q60.4 Renal hypoplasia, bilateral semapv:UnspecifiedMatching MONDO:0019980 renal hypoplasia, bilateral skos:exactMatch MEDGEN:609099 semapv:UnspecifiedMatching MONDO:0019980 renal hypoplasia, bilateral skos:exactMatch Orphanet:97362 Renal hypoplasia, bilateral semapv:UnspecifiedMatching MONDO:0019980 renal hypoplasia, bilateral skos:exactMatch SCTID:268232000 semapv:UnspecifiedMatching MONDO:0019980 renal hypoplasia, bilateral skos:exactMatch UMLS:C0431692 semapv:UnspecifiedMatching MONDO:0019981 unilateral multicystic dysplastic kidney skos:exactMatch MEDGEN:292613 semapv:UnspecifiedMatching MONDO:0019981 unilateral multicystic dysplastic kidney skos:exactMatch Orphanet:97363 Unilateral multicystic dysplastic kidney semapv:UnspecifiedMatching MONDO:0019981 unilateral multicystic dysplastic kidney skos:exactMatch UMLS:C1567426 semapv:UnspecifiedMatching MONDO:0019982 bilateral multicystic dysplastic kidney skos:exactMatch MEDGEN:333563 semapv:UnspecifiedMatching MONDO:0019982 bilateral multicystic dysplastic kidney skos:exactMatch Orphanet:97364 Bilateral multicystic dysplastic kidney semapv:UnspecifiedMatching MONDO:0019982 bilateral multicystic dysplastic kidney skos:exactMatch SCTID:717749002 semapv:UnspecifiedMatching MONDO:0019982 bilateral multicystic dysplastic kidney skos:exactMatch UMLS:C1840451 semapv:UnspecifiedMatching MONDO:0019983 multiloculated renal cyst skos:exactMatch MEDGEN:609113 semapv:UnspecifiedMatching MONDO:0019983 multiloculated renal cyst skos:exactMatch Orphanet:97366 Multiloculated renal cyst semapv:UnspecifiedMatching MONDO:0019983 multiloculated renal cyst skos:exactMatch SCTID:86463003 semapv:UnspecifiedMatching MONDO:0019983 multiloculated renal cyst skos:exactMatch UMLS:C0431719 semapv:UnspecifiedMatching MONDO:0019984 renal tubular dysgenesis due to twin-twin transfusion skos:exactMatch MEDGEN:1766862 semapv:UnspecifiedMatching MONDO:0019984 renal tubular dysgenesis due to twin-twin transfusion skos:exactMatch Orphanet:97367 Renal tubular dysgenesis due to twin-twin transfusion semapv:UnspecifiedMatching MONDO:0019984 renal tubular dysgenesis due to twin-twin transfusion skos:exactMatch UMLS:C5438872 semapv:UnspecifiedMatching MONDO:0019984 renal tubular dysgenesis due to twin-twin transfusion skos:exactMatch icd11.foundation:122234138 Renal tubular dysgenesis due to twin-twin transfusion semapv:UnspecifiedMatching MONDO:0019985 drug-related renal tubular dysgenesis skos:exactMatch MEDGEN:1771212 semapv:UnspecifiedMatching MONDO:0019985 drug-related renal tubular dysgenesis skos:exactMatch Orphanet:97368 Drug-related renal tubular dysgenesis semapv:UnspecifiedMatching MONDO:0019985 drug-related renal tubular dysgenesis skos:exactMatch UMLS:C5438798 semapv:UnspecifiedMatching MONDO:0019987 obsolete congenital and infantile nephrotic syndrome skos:exactMatch Orphanet:97556 Congenital and infantile nephrotic syndrome semapv:UnspecifiedMatching MONDO:0019988 pauci-immune glomerulonephritis with ANCA skos:exactMatch MEDGEN:1843351 semapv:UnspecifiedMatching MONDO:0019988 pauci-immune glomerulonephritis with ANCA skos:exactMatch Orphanet:97563 Pauci-immune glomerulonephritis with ANCA semapv:UnspecifiedMatching MONDO:0019988 pauci-immune glomerulonephritis with ANCA skos:exactMatch UMLS:C5680254 semapv:UnspecifiedMatching MONDO:0019989 pauci-immune glomerulonephritis without ANCA skos:exactMatch MEDGEN:1842476 semapv:UnspecifiedMatching MONDO:0019989 pauci-immune glomerulonephritis without ANCA skos:exactMatch Orphanet:97564 Pauci-immune glomerulonephritis without ANCA semapv:UnspecifiedMatching MONDO:0019989 pauci-immune glomerulonephritis without ANCA skos:exactMatch UMLS:C5680253 semapv:UnspecifiedMatching MONDO:0019990 non-amyloid fibrillary glomerulopathy skos:exactMatch MEDGEN:907201 semapv:UnspecifiedMatching MONDO:0019990 non-amyloid fibrillary glomerulopathy skos:exactMatch Orphanet:97566 Non-amyloid fibrillary glomerulopathy semapv:UnspecifiedMatching MONDO:0019990 non-amyloid fibrillary glomerulopathy skos:exactMatch SCTID:718192000 semapv:UnspecifiedMatching MONDO:0019990 non-amyloid fibrillary glomerulopathy skos:exactMatch UMLS:C4273674 semapv:UnspecifiedMatching MONDO:0019991 immunotactoid glomerulopathy skos:exactMatch MEDGEN:1684714 semapv:UnspecifiedMatching MONDO:0019991 immunotactoid glomerulopathy skos:exactMatch NCIT:C158968 Immunotactoid Glomerulopathy semapv:UnspecifiedMatching MONDO:0019991 immunotactoid glomerulopathy skos:exactMatch NCIT:C96182 Fibrillary Glomerulonephritis semapv:UnspecifiedMatching MONDO:0019991 immunotactoid glomerulopathy skos:exactMatch Orphanet:97567 Immunotactoid glomerulopathy semapv:UnspecifiedMatching MONDO:0019991 immunotactoid glomerulopathy skos:exactMatch SCTID:73305009 semapv:UnspecifiedMatching MONDO:0019991 immunotactoid glomerulopathy skos:exactMatch UMLS:C5202806 semapv:UnspecifiedMatching MONDO:0019992 pseudohypoparathyroidism skos:exactMatch DOID:4184 pseudohypoparathyroidism semapv:UnspecifiedMatching MONDO:0019992 pseudohypoparathyroidism skos:exactMatch ICD10CM:E20.1 Pseudohypoparathyroidism semapv:UnspecifiedMatching MONDO:0019992 pseudohypoparathyroidism skos:exactMatch MEDGEN:46178 semapv:UnspecifiedMatching MONDO:0019992 pseudohypoparathyroidism skos:exactMatch NCIT:C99027 Pseudohypoparathyroidism semapv:UnspecifiedMatching MONDO:0019992 pseudohypoparathyroidism skos:exactMatch Orphanet:97593 Pseudohypoparathyroidism semapv:UnspecifiedMatching MONDO:0019992 pseudohypoparathyroidism skos:exactMatch SCTID:58976002 semapv:UnspecifiedMatching MONDO:0019992 pseudohypoparathyroidism skos:exactMatch UMLS:C0033806 semapv:UnspecifiedMatching MONDO:0019992 pseudohypoparathyroidism skos:exactMatch icd11.foundation:1225154856 Pseudohypoparathyroidism semapv:UnspecifiedMatching MONDO:0019992 pseudohypoparathyroidism skos:exactMatch mesh:D011547 semapv:UnspecifiedMatching MONDO:0019993 congenital renal artery stenosis skos:exactMatch ICD10CM:Q27.1 Congenital renal artery stenosis semapv:UnspecifiedMatching MONDO:0019993 congenital renal artery stenosis skos:exactMatch MEDGEN:635552 semapv:UnspecifiedMatching MONDO:0019993 congenital renal artery stenosis skos:exactMatch Orphanet:97598 Congenital renal artery stenosis semapv:UnspecifiedMatching MONDO:0019993 congenital renal artery stenosis skos:exactMatch SCTID:271432005 semapv:UnspecifiedMatching MONDO:0019993 congenital renal artery stenosis skos:exactMatch UMLS:C0495523 semapv:UnspecifiedMatching MONDO:0019993 congenital renal artery stenosis skos:exactMatch icd11.foundation:856359002 Congenital renal artery stenosis semapv:UnspecifiedMatching MONDO:0019994 maternal uniparental disomy of chromosome 13 skos:exactMatch MEDGEN:1656812 semapv:UnspecifiedMatching MONDO:0019994 maternal uniparental disomy of chromosome 13 skos:exactMatch Orphanet:97678 Maternal uniparental disomy of chromosome 13 syndrome semapv:UnspecifiedMatching MONDO:0019994 maternal uniparental disomy of chromosome 13 skos:exactMatch UMLS:C4722325 semapv:UnspecifiedMatching MONDO:0019994 maternal uniparental disomy of chromosome 13 skos:exactMatch icd11.foundation:729188840 Maternal uniparental disomy of chromosome 13 semapv:UnspecifiedMatching MONDO:0019995 peripheral resistance to thyroid hormones skos:exactMatch MEDGEN:902322 semapv:UnspecifiedMatching MONDO:0019995 peripheral resistance to thyroid hormones skos:exactMatch SCTID:718193005 semapv:UnspecifiedMatching MONDO:0019995 peripheral resistance to thyroid hormones skos:exactMatch UMLS:C4273673 semapv:UnspecifiedMatching MONDO:0019996 obsolete rare cardiac disease skos:exactMatch Orphanet:97929 Rare cardiac disease semapv:UnspecifiedMatching MONDO:0019997 obsolete rare gastroenterologic disease skos:exactMatch Orphanet:97935 Rare gastroenterologic disease semapv:UnspecifiedMatching MONDO:0019998 obsolete gastroduodenal malformation skos:exactMatch Orphanet:97944 Gastroduodenal malformation semapv:UnspecifiedMatching MONDO:0019999 obsolete intestinal malformation skos:exactMatch Orphanet:97945 Intestinal malformation semapv:UnspecifiedMatching MONDO:0020000 obsolete rare respiratory disease skos:exactMatch Orphanet:97955 Rare respiratory disease semapv:UnspecifiedMatching MONDO:0020001 respiratory or thoracic malformation skos:exactMatch MEDGEN:1842800 semapv:UnspecifiedMatching MONDO:0020001 respiratory or thoracic malformation skos:exactMatch Orphanet:97957 Respiratory or thoracic malformation semapv:UnspecifiedMatching MONDO:0020001 respiratory or thoracic malformation skos:exactMatch UMLS:C5681559 semapv:UnspecifiedMatching MONDO:0020002 obsolete rare surgical thoracic disease skos:exactMatch Orphanet:97962 Rare surgical thoracic disease semapv:UnspecifiedMatching MONDO:0020003 obsolete rare surgical cardiac disease skos:exactMatch Orphanet:97965 Rare surgical cardiac disease semapv:UnspecifiedMatching MONDO:0020004 obsolete rare eye disease skos:exactMatch Orphanet:97966 Rare ophthalmic disorder semapv:UnspecifiedMatching MONDO:0020005 obsolete rare endocrine disease skos:exactMatch Orphanet:97978 Rare endocrine disease semapv:UnspecifiedMatching MONDO:0020007 absence of the pulmonary artery skos:exactMatch MEDGEN:120560 semapv:UnspecifiedMatching MONDO:0020007 absence of the pulmonary artery skos:exactMatch Orphanet:980 Absence of the pulmonary artery semapv:UnspecifiedMatching MONDO:0020007 absence of the pulmonary artery skos:exactMatch SCTID:86252004 semapv:UnspecifiedMatching MONDO:0020007 absence of the pulmonary artery skos:exactMatch UMLS:C0265905 semapv:UnspecifiedMatching MONDO:0020007 absence of the pulmonary artery skos:exactMatch icd11.foundation:542905766 Agenesis of pulmonary artery semapv:UnspecifiedMatching MONDO:0020008 obsolete rare immune disease skos:exactMatch Orphanet:98004 Rare immune disease semapv:UnspecifiedMatching MONDO:0020009 obsolete rare neurologic disease skos:exactMatch Orphanet:98006 Rare neurologic disease semapv:UnspecifiedMatching MONDO:0020010 infectious disorder of the nervous system skos:exactMatch MEDGEN:108926 semapv:UnspecifiedMatching MONDO:0020010 infectious disorder of the nervous system skos:exactMatch NCIT:C27590 Nervous System Infectious Disorder semapv:UnspecifiedMatching MONDO:0020010 infectious disorder of the nervous system skos:exactMatch Orphanet:98010 Infectious disease of the nervous system semapv:UnspecifiedMatching MONDO:0020010 infectious disorder of the nervous system skos:exactMatch SCTID:128116006 semapv:UnspecifiedMatching MONDO:0020010 infectious disorder of the nervous system skos:exactMatch UMLS:C0597039 semapv:UnspecifiedMatching MONDO:0020011 obsolete rare headache disorder skos:exactMatch Orphanet:98022 Rare headache semapv:UnspecifiedMatching MONDO:0020013 obsolete rare odontologic disease skos:exactMatch Orphanet:98026 Rare odontologic disease semapv:UnspecifiedMatching MONDO:0020014 obsolete rare disease with odontological manifestation skos:exactMatch Orphanet:98027 Rare disease with odontological manifestation semapv:UnspecifiedMatching MONDO:0020015 obsolete rare circulatory system disease skos:exactMatch Orphanet:98028 Rare circulatory system disease semapv:UnspecifiedMatching MONDO:0020016 obsolete rare neurologic disease with psychiatric involvement skos:exactMatch Orphanet:98033 Rare neurologic disease with psychiatric involvement semapv:UnspecifiedMatching MONDO:0020017 obsolete rare otorhinolaryngologic disease skos:exactMatch Orphanet:98036 Rare otorhinolaryngologic disease semapv:UnspecifiedMatching MONDO:0020018 obsolete cranial malformation skos:exactMatch Orphanet:98038 Cranial malformation semapv:UnspecifiedMatching MONDO:0020019 obsolete digestive tract malformation skos:exactMatch Orphanet:98039 Digestive tract malformation semapv:UnspecifiedMatching MONDO:0020020 obsolete visceral malformation of the liver, biliary tract, pancreas or spleen skos:exactMatch Orphanet:98041 Visceral malformation of the liver, biliary tract, pancreas or spleen semapv:UnspecifiedMatching MONDO:0020021 obsolete diaphragmatic or abdominal wall malformation skos:exactMatch Orphanet:98043 Diaphragmatic or abdominal wall malformation semapv:UnspecifiedMatching MONDO:0020022 central nervous system malformation skos:exactMatch ICD10CM:Q00-Q07 Congenital malformations of the nervous system (Q00-Q07) semapv:UnspecifiedMatching MONDO:0020022 central nervous system malformation skos:exactMatch MEDGEN:374250 semapv:UnspecifiedMatching MONDO:0020022 central nervous system malformation skos:exactMatch Orphanet:98044 Central nervous system malformation semapv:UnspecifiedMatching MONDO:0020022 central nervous system malformation skos:exactMatch UMLS:C1839543 semapv:UnspecifiedMatching MONDO:0020022 central nervous system malformation skos:exactMatch mesh:D009421 semapv:UnspecifiedMatching MONDO:0020023 obsolete respiratory or mediastinal malformation skos:exactMatch Orphanet:98045 Respiratory or mediastinal malformation semapv:UnspecifiedMatching MONDO:0020024 obsolete rare infertility skos:exactMatch Orphanet:98047 Rare infertility semapv:UnspecifiedMatching MONDO:0020025 obsolete rare male infertility skos:exactMatch Orphanet:98048 Rare male infertility semapv:UnspecifiedMatching MONDO:0020026 obsolete rare female infertility skos:exactMatch Orphanet:98049 Rare female infertility semapv:UnspecifiedMatching MONDO:0020027 obsolete rare allergic disease skos:exactMatch Orphanet:98050 Rare allergic disease semapv:UnspecifiedMatching MONDO:0020028 obsolete rare allergic respiratory disease skos:exactMatch Orphanet:98052 Rare allergic respiratory disease semapv:UnspecifiedMatching MONDO:0020029 obsolete rare genetic cardiac disease skos:exactMatch Orphanet:98054 Rare genetic cardiac disease semapv:UnspecifiedMatching MONDO:0020030 obsolete rare genetic renal disease skos:exactMatch Orphanet:98056 Rare genetic renal disease semapv:UnspecifiedMatching MONDO:0020031 obsolete rare tumor skos:exactMatch Orphanet:98057 Rare tumor semapv:UnspecifiedMatching MONDO:0020032 obsolete rare urinary tract tumor skos:exactMatch Orphanet:98058 Rare urinary tract tumor semapv:UnspecifiedMatching MONDO:0020033 obsolete rare digestive tumor skos:exactMatch Orphanet:98059 Rare digestive tumor semapv:UnspecifiedMatching MONDO:0020034 obsolete rare respiratory tract neoplasm skos:exactMatch Orphanet:98060 Rare respiratory tumor semapv:UnspecifiedMatching MONDO:0020035 obsolete rare otorhinolaryngologic tumor skos:exactMatch Orphanet:98061 Rare otorhinolaryngologic tumor semapv:UnspecifiedMatching MONDO:0020036 obsolete rare nervous system tumor skos:exactMatch Orphanet:98062 Rare nervous system tumor semapv:UnspecifiedMatching MONDO:0020037 obsolete rare gynecological tumor skos:exactMatch Orphanet:98063 Rare gynecological tumor semapv:UnspecifiedMatching MONDO:0020038 obsolete gonadal dysgenesis of gynecological interest skos:exactMatch Orphanet:98074 Gonadal dysgenesis of gynecological interest semapv:UnspecifiedMatching MONDO:0020039 obsolete 46,XX disorder of sex development induced by androgens excess skos:exactMatch Orphanet:98078 46,XX difference of sex development induced by androgens excess semapv:UnspecifiedMatching MONDO:0020040 46,XY disorder of sex development skos:exactMatch MEDGEN:414114 semapv:UnspecifiedMatching MONDO:0020040 46,XY disorder of sex development skos:exactMatch NCIT:C127171 46,XY Differences of Sex Development semapv:UnspecifiedMatching MONDO:0020040 46,XY disorder of sex development skos:exactMatch Orphanet:98085 46,XY difference of sex development semapv:UnspecifiedMatching MONDO:0020040 46,XY disorder of sex development skos:exactMatch SCTID:8234004 semapv:UnspecifiedMatching MONDO:0020040 46,XY disorder of sex development skos:exactMatch UMLS:C2751824 semapv:UnspecifiedMatching MONDO:0020040 46,XY disorder of sex development skos:exactMatch mesh:D058490 semapv:UnspecifiedMatching MONDO:0020041 obsolete 46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue skos:exactMatch Orphanet:98086 46,XY difference of sex development due to a defect in testosterone metabolism by peripheral tissue semapv:UnspecifiedMatching MONDO:0020042 obsolete syndrome with 46,XY disorder of sex development skos:exactMatch Orphanet:98087 Syndrome with 46,XY difference of sex development semapv:UnspecifiedMatching MONDO:0020043 autosomal recessive congenital cerebellar ataxia skos:exactMatch MEDGEN:1843070 semapv:UnspecifiedMatching MONDO:0020043 autosomal recessive congenital cerebellar ataxia skos:exactMatch Orphanet:98095 Autosomal recessive congenital cerebellar ataxia semapv:UnspecifiedMatching MONDO:0020043 autosomal recessive congenital cerebellar ataxia skos:exactMatch UMLS:C5681519 semapv:UnspecifiedMatching MONDO:0020044 autosomal recessive metabolic cerebellar ataxia skos:exactMatch MEDGEN:1842756 semapv:UnspecifiedMatching MONDO:0020044 autosomal recessive metabolic cerebellar ataxia skos:exactMatch Orphanet:98096 Autosomal recessive metabolic cerebellar ataxia semapv:UnspecifiedMatching MONDO:0020044 autosomal recessive metabolic cerebellar ataxia skos:exactMatch UMLS:C5681517 semapv:UnspecifiedMatching MONDO:0020045 obsolete autosomal recessive cerebellar ataxia due to a DNA repair defect skos:exactMatch Orphanet:98097 Autosomal recessive cerebellar ataxia due to a DNA repair defect semapv:UnspecifiedMatching MONDO:0020046 autosomal recessive degenerative and progressive cerebellar ataxia skos:exactMatch MEDGEN:1842627 semapv:UnspecifiedMatching MONDO:0020046 autosomal recessive degenerative and progressive cerebellar ataxia skos:exactMatch Orphanet:98098 Autosomal recessive degenerative and progressive cerebellar ataxia semapv:UnspecifiedMatching MONDO:0020046 autosomal recessive degenerative and progressive cerebellar ataxia skos:exactMatch UMLS:C5681515 semapv:UnspecifiedMatching MONDO:0020047 autosomal recessive syndromic cerebellar ataxia skos:exactMatch MEDGEN:1843251 semapv:UnspecifiedMatching MONDO:0020047 autosomal recessive syndromic cerebellar ataxia skos:exactMatch Orphanet:98099 Autosomal recessive syndromic cerebellar ataxia semapv:UnspecifiedMatching MONDO:0020047 autosomal recessive syndromic cerebellar ataxia skos:exactMatch UMLS:C5681516 semapv:UnspecifiedMatching MONDO:0020048 internal carotid agenesis skos:exactMatch MEDGEN:928576 semapv:UnspecifiedMatching MONDO:0020048 internal carotid agenesis skos:exactMatch Orphanet:981 Internal carotid absence semapv:UnspecifiedMatching MONDO:0020048 internal carotid agenesis skos:exactMatch SCTID:722004001 semapv:UnspecifiedMatching MONDO:0020048 internal carotid agenesis skos:exactMatch UMLS:C4302907 semapv:UnspecifiedMatching MONDO:0020048 internal carotid agenesis skos:exactMatch icd11.foundation:368564890 Internal carotid agenesis semapv:UnspecifiedMatching MONDO:0020049 autosomal anomaly skos:exactMatch MEDGEN:1843454 semapv:UnspecifiedMatching MONDO:0020049 autosomal anomaly skos:exactMatch Orphanet:98127 Autosomal anomaly syndrome semapv:UnspecifiedMatching MONDO:0020049 autosomal anomaly skos:exactMatch UMLS:C5681496 semapv:UnspecifiedMatching MONDO:0020050 obsolete autosomal trisomy skos:exactMatch Orphanet:98130 Autosomal trisomy syndrome semapv:UnspecifiedMatching MONDO:0020050 obsolete autosomal trisomy skos:exactMatch SCTID:429442006 semapv:UnspecifiedMatching MONDO:0020051 obsolete total autosomal trisomy skos:exactMatch Orphanet:98131 Total autosomal trisomy syndrome semapv:UnspecifiedMatching MONDO:0020052 obsolete partial autosomal trisomy/tetrasomy skos:exactMatch Orphanet:98132 Partial autosomal duplication/triplication syndrome semapv:UnspecifiedMatching MONDO:0020053 obsolete total autosomal monosomy skos:exactMatch Orphanet:98141 Total autosomal monosomy syndrome semapv:UnspecifiedMatching MONDO:0020053 obsolete total autosomal monosomy skos:exactMatch icd11.foundation:599695253 Complete monosomy of autosome semapv:UnspecifiedMatching MONDO:0020054 obsolete partial autosomal monosomy skos:exactMatch Orphanet:98142 Partial autosomal deletion syndrome semapv:UnspecifiedMatching MONDO:0020054 obsolete partial autosomal monosomy skos:exactMatch icd11.foundation:343448541 Deletions of the autosomes semapv:UnspecifiedMatching MONDO:0020055 obsolete autosomal uniparental disomy skos:exactMatch Orphanet:98152 Autosomal uniparental disomy syndrome semapv:UnspecifiedMatching MONDO:0020056 obsolete uniparental disomy of maternal origin skos:exactMatch Orphanet:98153 Maternal uniparental disomy syndrome semapv:UnspecifiedMatching MONDO:0020056 obsolete uniparental disomy of maternal origin skos:exactMatch SCTID:726401004 semapv:UnspecifiedMatching MONDO:0020056 obsolete uniparental disomy of maternal origin skos:exactMatch icd11.foundation:824346206 Uniparental disomies of maternal origin semapv:UnspecifiedMatching MONDO:0020057 obsolete uniparental disomy of paternal origin skos:exactMatch Orphanet:98154 Paternal uniparental disomy syndrome semapv:UnspecifiedMatching MONDO:0020057 obsolete uniparental disomy of paternal origin skos:exactMatch SCTID:726402006 semapv:UnspecifiedMatching MONDO:0020057 obsolete uniparental disomy of paternal origin skos:exactMatch icd11.foundation:2028476598 Uniparental disomies of paternal origin semapv:UnspecifiedMatching MONDO:0020058 gonosome anomaly skos:exactMatch Orphanet:98155 Sex-chromosome anomaly syndrome semapv:UnspecifiedMatching MONDO:0020058 gonosome anomaly skos:exactMatch SCTID:95462004 semapv:UnspecifiedMatching MONDO:0020059 obsolete gonosome number anomaly skos:exactMatch Orphanet:98156 Sex-chromosome number anomaly syndrome semapv:UnspecifiedMatching MONDO:0020060 obsolete gonosome structural anomaly skos:exactMatch Orphanet:98157 Sex-chromosome structural anomaly syndrome semapv:UnspecifiedMatching MONDO:0020061 obsolete chromosome Y structural anomaly skos:exactMatch Orphanet:98158 Chromosome Y structural anomaly syndrome semapv:UnspecifiedMatching MONDO:0020061 obsolete chromosome Y structural anomaly skos:exactMatch icd11.foundation:1096926039 Structural anomalies of chromosome Y semapv:UnspecifiedMatching MONDO:0020062 obsolete chromosome X structural anomaly skos:exactMatch Orphanet:98159 Chromosome X structural anomaly syndrome semapv:UnspecifiedMatching MONDO:0020063 obsolete malformation syndrome with hamartosis skos:exactMatch Orphanet:98196 Malformation syndrome with hamartosis semapv:UnspecifiedMatching MONDO:0020064 pulmonary valve agenesis skos:exactMatch MEDGEN:576671 semapv:UnspecifiedMatching MONDO:0020064 pulmonary valve agenesis skos:exactMatch Orphanet:982 Pulmonary valve agenesis semapv:UnspecifiedMatching MONDO:0020064 pulmonary valve agenesis skos:exactMatch SCTID:6996004 semapv:UnspecifiedMatching MONDO:0020064 pulmonary valve agenesis skos:exactMatch UMLS:C0344983 semapv:UnspecifiedMatching MONDO:0020065 combined dystonia skos:exactMatch MEDGEN:1842879 semapv:UnspecifiedMatching MONDO:0020065 combined dystonia skos:exactMatch Orphanet:98203 Combined dystonia semapv:UnspecifiedMatching MONDO:0020065 combined dystonia skos:exactMatch UMLS:C5680244 semapv:UnspecifiedMatching MONDO:0020066 Ehlers-Danlos syndrome skos:exactMatch DOID:13359 Ehlers-Danlos syndrome semapv:UnspecifiedMatching MONDO:0020066 Ehlers-Danlos syndrome skos:exactMatch ICD10CM:Q79.6 Ehlers-Danlos syndromes semapv:UnspecifiedMatching MONDO:0020066 Ehlers-Danlos syndrome skos:exactMatch MEDGEN:41720 semapv:UnspecifiedMatching MONDO:0020066 Ehlers-Danlos syndrome skos:exactMatch NCIT:C34568 Ehlers-Danlos Syndrome semapv:UnspecifiedMatching MONDO:0020066 Ehlers-Danlos syndrome skos:exactMatch OMIMPS:130000 Ehlers-Danlos syndrome semapv:UnspecifiedMatching MONDO:0020066 Ehlers-Danlos syndrome skos:exactMatch Orphanet:98249 Ehlers-Danlos syndrome semapv:UnspecifiedMatching MONDO:0020066 Ehlers-Danlos syndrome skos:exactMatch SCTID:398114001 semapv:UnspecifiedMatching MONDO:0020066 Ehlers-Danlos syndrome skos:exactMatch UMLS:C0013720 semapv:UnspecifiedMatching MONDO:0020066 Ehlers-Danlos syndrome skos:exactMatch icd11.foundation:1122707206 Ehlers-Danlos syndrome semapv:UnspecifiedMatching MONDO:0020066 Ehlers-Danlos syndrome skos:exactMatch mesh:D004535 semapv:UnspecifiedMatching MONDO:0020067 infectious encephalitis skos:exactMatch MEDGEN:108917 semapv:UnspecifiedMatching MONDO:0020067 infectious encephalitis skos:exactMatch NCIT:C79550 Infectious Encephalitis semapv:UnspecifiedMatching MONDO:0020067 infectious encephalitis skos:exactMatch SCTID:312215006 semapv:UnspecifiedMatching MONDO:0020067 infectious encephalitis skos:exactMatch UMLS:C0596773 semapv:UnspecifiedMatching MONDO:0020067 infectious encephalitis skos:exactMatch mesh:D000069544 semapv:UnspecifiedMatching MONDO:0020068 postinfectious encephalitis skos:exactMatch DOID:10993 postinfectious encephalitis semapv:UnspecifiedMatching MONDO:0020068 postinfectious encephalitis skos:exactMatch MEDGEN:581376 semapv:UnspecifiedMatching MONDO:0020068 postinfectious encephalitis skos:exactMatch SCTID:192727001 semapv:UnspecifiedMatching MONDO:0020068 postinfectious encephalitis skos:exactMatch UMLS:C0393459 semapv:UnspecifiedMatching MONDO:0020069 obsolete chronic encephalitis skos:exactMatch Orphanet:98255 Chronic encephalitis semapv:UnspecifiedMatching MONDO:0020072 childhood-onset epilepsy syndrome skos:exactMatch MEDGEN:1843031 semapv:UnspecifiedMatching MONDO:0020072 childhood-onset epilepsy syndrome skos:exactMatch Orphanet:98259 Childhood-onset epilepsy syndrome semapv:UnspecifiedMatching MONDO:0020072 childhood-onset epilepsy syndrome skos:exactMatch UMLS:C5681526 semapv:UnspecifiedMatching MONDO:0020073 obsolete adolescent-onset epilepsy syndrome skos:exactMatch Orphanet:98260 Adolescent-onset epilepsy syndrome semapv:UnspecifiedMatching MONDO:0020074 progressive myoclonus epilepsy skos:exactMatch DOID:891 progressive myoclonus epilepsy semapv:UnspecifiedMatching MONDO:0020074 progressive myoclonus epilepsy skos:exactMatch MEDGEN:199732 semapv:UnspecifiedMatching MONDO:0020074 progressive myoclonus epilepsy skos:exactMatch NCIT:C7636 Progressive Myoclonus Epilepsy semapv:UnspecifiedMatching MONDO:0020074 progressive myoclonus epilepsy skos:exactMatch OMIMPS:254800 Epilepsy, progressive myoclonic semapv:UnspecifiedMatching MONDO:0020074 progressive myoclonus epilepsy skos:exactMatch Orphanet:98261 Progressive myoclonic epilepsy semapv:UnspecifiedMatching MONDO:0020074 progressive myoclonus epilepsy skos:exactMatch SCTID:267581004 semapv:UnspecifiedMatching MONDO:0020074 progressive myoclonus epilepsy skos:exactMatch UMLS:C0751778 semapv:UnspecifiedMatching MONDO:0020074 progressive myoclonus epilepsy skos:exactMatch icd11.foundation:173613583 Progressive myoclonic epilepsy semapv:UnspecifiedMatching MONDO:0020074 progressive myoclonus epilepsy skos:exactMatch mesh:D020191 semapv:UnspecifiedMatching MONDO:0020075 obsolete hereditary non-syndromic obesity skos:exactMatch Orphanet:98267 Genetic non-syndromic obesity semapv:UnspecifiedMatching MONDO:0020076 myeloproliferative neoplasm skos:exactMatch DOID:2226 myeloproliferative neoplasm semapv:UnspecifiedMatching MONDO:0020076 myeloproliferative neoplasm skos:exactMatch EFO:0002428 semapv:UnspecifiedMatching MONDO:0020076 myeloproliferative neoplasm skos:exactMatch MEDGEN:220955 semapv:UnspecifiedMatching MONDO:0020076 myeloproliferative neoplasm skos:exactMatch NCIT:C4345 Myeloproliferative Neoplasm semapv:UnspecifiedMatching MONDO:0020076 myeloproliferative neoplasm skos:exactMatch Orphanet:98274 Myeloproliferative neoplasm semapv:UnspecifiedMatching MONDO:0020076 myeloproliferative neoplasm skos:exactMatch SCTID:425333006 semapv:UnspecifiedMatching MONDO:0020076 myeloproliferative neoplasm skos:exactMatch UMLS:C1292778 semapv:UnspecifiedMatching MONDO:0020077 myelodysplastic/myeloproliferative disease skos:exactMatch Orphanet:98275 Myelodysplastic/myeloproliferative disease semapv:UnspecifiedMatching MONDO:0020077 myelodysplastic/myeloproliferative disease skos:exactMatch mesh:D054437 semapv:UnspecifiedMatching MONDO:0020078 obsolete acute myeloid leukemia with recurrent genetic anomaly skos:exactMatch Orphanet:98277 Acute myeloid leukemia with recurrent genetic anomaly semapv:UnspecifiedMatching MONDO:0020078 obsolete acute myeloid leukemia with recurrent genetic anomaly skos:exactMatch icd11.foundation:1430965006 Acute myeloid leukaemia with recurrent genetic abnormalities semapv:UnspecifiedMatching MONDO:0020081 obsolete macrophage or histiocytic tumor skos:exactMatch Orphanet:98288 Macrophage or histiocytic tumor semapv:UnspecifiedMatching MONDO:0020082 dendritic cell tumor skos:exactMatch MEDGEN:1842732 semapv:UnspecifiedMatching MONDO:0020082 dendritic cell tumor skos:exactMatch Orphanet:98289 Dendritic cell tumor semapv:UnspecifiedMatching MONDO:0020082 dendritic cell tumor skos:exactMatch SCTID:737223000 semapv:UnspecifiedMatching MONDO:0020082 dendritic cell tumor skos:exactMatch UMLS:C5681852 semapv:UnspecifiedMatching MONDO:0020083 immunodeficiency-associated lymphoproliferative disease skos:exactMatch MEDGEN:1843142 semapv:UnspecifiedMatching MONDO:0020083 immunodeficiency-associated lymphoproliferative disease skos:exactMatch NCIT:C150672 Immunodeficiency-Related Lymphoproliferative Disorder semapv:UnspecifiedMatching MONDO:0020083 immunodeficiency-associated lymphoproliferative disease skos:exactMatch Orphanet:98290 Immunodeficiency-associated lymphoproliferative disease semapv:UnspecifiedMatching MONDO:0020083 immunodeficiency-associated lymphoproliferative disease skos:exactMatch UMLS:C5681530 semapv:UnspecifiedMatching MONDO:0020083 immunodeficiency-associated lymphoproliferative disease skos:exactMatch icd11.foundation:1678636940 Immunodeficiency-associated lymphoproliferative disorders semapv:UnspecifiedMatching MONDO:0020084 obsolete lymphoproliferative disease associated with primary immune disease skos:exactMatch Orphanet:98291 Lymphoproliferative disease associated with primary immune disease semapv:UnspecifiedMatching MONDO:0020087 hereditary lipodystrophy skos:exactMatch MEDGEN:1383706 semapv:UnspecifiedMatching MONDO:0020087 hereditary lipodystrophy skos:exactMatch Orphanet:98305 Genetic lipodystrophy semapv:UnspecifiedMatching MONDO:0020087 hereditary lipodystrophy skos:exactMatch SCTID:724841000 semapv:UnspecifiedMatching MONDO:0020087 hereditary lipodystrophy skos:exactMatch UMLS:C4511302 semapv:UnspecifiedMatching MONDO:0020087 hereditary lipodystrophy skos:exactMatch icd11.foundation:1166232738 Genetic lipodystrophy semapv:UnspecifiedMatching MONDO:0020088 familial partial lipodystrophy skos:exactMatch DOID:0050440 familial partial lipodystrophy semapv:UnspecifiedMatching MONDO:0020088 familial partial lipodystrophy skos:exactMatch MEDGEN:124408 semapv:UnspecifiedMatching MONDO:0020088 familial partial lipodystrophy skos:exactMatch NCIT:C84708 Familial Partial Lipodystrophy semapv:UnspecifiedMatching MONDO:0020088 familial partial lipodystrophy skos:exactMatch OMIMPS:151660 Lipodystrophy, familial partial semapv:UnspecifiedMatching MONDO:0020088 familial partial lipodystrophy skos:exactMatch Orphanet:98306 Familial partial lipodystrophy semapv:UnspecifiedMatching MONDO:0020088 familial partial lipodystrophy skos:exactMatch SCTID:49292002 semapv:UnspecifiedMatching MONDO:0020088 familial partial lipodystrophy skos:exactMatch UMLS:C0271694 semapv:UnspecifiedMatching MONDO:0020088 familial partial lipodystrophy skos:exactMatch icd11.foundation:1661968243 Familial partial lipodystrophy semapv:UnspecifiedMatching MONDO:0020088 familial partial lipodystrophy skos:exactMatch mesh:D052496 semapv:UnspecifiedMatching MONDO:0020089 acquired lipodystrophy skos:exactMatch MEDGEN:798705 semapv:UnspecifiedMatching MONDO:0020089 acquired lipodystrophy skos:exactMatch Orphanet:98307 Acquired lipodystrophy semapv:UnspecifiedMatching MONDO:0020089 acquired lipodystrophy skos:exactMatch UMLS:C0877192 semapv:UnspecifiedMatching MONDO:0020090 obsolete male infertility due to gonadal dysgenesis skos:exactMatch Orphanet:98313 Male infertility due to gonadal dysgenesis semapv:UnspecifiedMatching MONDO:0020091 obsolete male infertility due to obstructive azoospermia skos:exactMatch Orphanet:98343 Male infertility due to obstructive azoospermia semapv:UnspecifiedMatching MONDO:0020092 obsolete rare idiopathic male infertility skos:exactMatch Orphanet:98345 OBSOLETE: Rare idiopathic male infertility semapv:UnspecifiedMatching MONDO:0020093 obsolete autosomal dominant isolated diffuse palmoplantar keratoderma skos:exactMatch Orphanet:98349 Autosomal dominant isolated diffuse palmoplantar keratoderma semapv:UnspecifiedMatching MONDO:0020094 obsolete autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:98352 Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching MONDO:0020095 obsolete autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:98353 Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching MONDO:0020096 obsolete autosomal recessive isolated diffuse palmoplantar keratoderma skos:exactMatch Orphanet:98356 Autosomal recessive isolated diffuse palmoplantar keratoderma semapv:UnspecifiedMatching MONDO:0020097 obsolete autosomal recessive disease with focal palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:98357 Autosomal recessive disease with focal palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching MONDO:0020098 obsolete constitutional anemia due to iron metabolism disorder skos:exactMatch Orphanet:98360 Constitutional anemia due to iron metabolism disorder semapv:UnspecifiedMatching MONDO:0020099 inherited sideroblastic anemia skos:exactMatch MEDGEN:65119 semapv:UnspecifiedMatching MONDO:0020099 inherited sideroblastic anemia skos:exactMatch OMIMPS:300751 Anemia, sideroblastic semapv:UnspecifiedMatching MONDO:0020099 inherited sideroblastic anemia skos:exactMatch Orphanet:98362 Constitutional sideroblastic anemia semapv:UnspecifiedMatching MONDO:0020099 inherited sideroblastic anemia skos:exactMatch UMLS:C0221018 semapv:UnspecifiedMatching MONDO:0020099 inherited sideroblastic anemia skos:exactMatch icd11.foundation:789053868 Hereditary syndromic sideroblastic anaemia semapv:UnspecifiedMatching MONDO:0020100 obsolete rare hemolytic anemia skos:exactMatch Orphanet:98363 Rare hemolytic anemia semapv:UnspecifiedMatching MONDO:0020101 obsolete constitutional hemolytic anemia due to membrane defect skos:exactMatch NCIT:C101218 Hemolytic Anemia due to Membrane Defect semapv:UnspecifiedMatching MONDO:0020101 obsolete constitutional hemolytic anemia due to membrane defect skos:exactMatch Orphanet:98364 Rare constitutional hemolytic anemia due to a red cell membrane anomaly semapv:UnspecifiedMatching MONDO:0020101 obsolete constitutional hemolytic anemia due to membrane defect skos:exactMatch SCTID:111575000 semapv:UnspecifiedMatching MONDO:0020102 hereditary stomatocytosis skos:exactMatch MEDGEN:490161 semapv:UnspecifiedMatching MONDO:0020102 hereditary stomatocytosis skos:exactMatch Orphanet:98365 Hereditary stomatocytosis semapv:UnspecifiedMatching MONDO:0020102 hereditary stomatocytosis skos:exactMatch SCTID:14087004 semapv:UnspecifiedMatching MONDO:0020102 hereditary stomatocytosis skos:exactMatch UMLS:C1262483 semapv:UnspecifiedMatching MONDO:0020102 hereditary stomatocytosis skos:exactMatch icd11.foundation:2067120097 Hereditary stomatocytosis semapv:UnspecifiedMatching MONDO:0020103 obsolete constitutional hemolytic anemia due to acanthocytosis skos:exactMatch Orphanet:98366 Constitutional hemolytic anemia due to acanthocytosis semapv:UnspecifiedMatching MONDO:0020104 obsolete rare constitutional hemolytic anemia due to an enzyme disorder skos:exactMatch Orphanet:98369 Rare constitutional hemolytic anemia due to an enzyme disorder semapv:UnspecifiedMatching MONDO:0020105 obsolete hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies skos:exactMatch Orphanet:98370 Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies semapv:UnspecifiedMatching MONDO:0020105 obsolete hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies skos:exactMatch icd11.foundation:2071787420 Haemolytic anaemias due to hexose monophosphate shunt or glutathione metabolism anomalies semapv:UnspecifiedMatching MONDO:0020106 obsolete hemolytic anemia due to a disorder of glycolytic enzymes skos:exactMatch Orphanet:98372 Hemolytic anemia due to a disorder of glycolytic enzymes semapv:UnspecifiedMatching MONDO:0020107 obsolete hemolytic anemia due to an erythrocyte nucleotide metabolism disorder skos:exactMatch Orphanet:98374 Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder semapv:UnspecifiedMatching MONDO:0020108 autoimmune hemolytic anemia skos:exactMatch DOID:718 autoimmune hemolytic anemia semapv:UnspecifiedMatching MONDO:0020108 autoimmune hemolytic anemia skos:exactMatch EFO:1001264 semapv:UnspecifiedMatching MONDO:0020108 autoimmune hemolytic anemia skos:exactMatch MEDGEN:1918 semapv:UnspecifiedMatching MONDO:0020108 autoimmune hemolytic anemia skos:exactMatch NCIT:C34378 Autoimmune Hemolytic Anemia semapv:UnspecifiedMatching MONDO:0020108 autoimmune hemolytic anemia skos:exactMatch OMIM:205700 anemia, autoimmune hemolytic semapv:UnspecifiedMatching MONDO:0020108 autoimmune hemolytic anemia skos:exactMatch Orphanet:98375 Autoimmune hemolytic anemia semapv:UnspecifiedMatching MONDO:0020108 autoimmune hemolytic anemia skos:exactMatch SCTID:413603009 semapv:UnspecifiedMatching MONDO:0020108 autoimmune hemolytic anemia skos:exactMatch UMLS:C0002880 semapv:UnspecifiedMatching MONDO:0020108 autoimmune hemolytic anemia skos:exactMatch icd11.foundation:1834341306 Acquired haemolytic anaemia, immune semapv:UnspecifiedMatching MONDO:0020108 autoimmune hemolytic anemia skos:exactMatch mesh:D000744 semapv:UnspecifiedMatching MONDO:0020109 obsolete constitutional megaloblastic anemia due to vitamin B12 metabolism disorder skos:exactMatch Orphanet:98396 Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder semapv:UnspecifiedMatching MONDO:0020110 pulmonary agenesis skos:exactMatch ICD10CM:Q33.3 Agenesis of lung semapv:UnspecifiedMatching MONDO:0020110 pulmonary agenesis skos:exactMatch MEDGEN:82722 semapv:UnspecifiedMatching MONDO:0020110 pulmonary agenesis skos:exactMatch NCIT:C99028 Pulmonary Agenesis semapv:UnspecifiedMatching MONDO:0020110 pulmonary agenesis skos:exactMatch Orphanet:984 Pulmonary agenesis semapv:UnspecifiedMatching MONDO:0020110 pulmonary agenesis skos:exactMatch SCTID:66489009 semapv:UnspecifiedMatching MONDO:0020110 pulmonary agenesis skos:exactMatch UMLS:C0265780 semapv:UnspecifiedMatching MONDO:0020110 pulmonary agenesis skos:exactMatch icd11.foundation:134836096 Agenesis of lung semapv:UnspecifiedMatching MONDO:0020110 pulmonary agenesis skos:exactMatch mesh:C562992 semapv:UnspecifiedMatching MONDO:0020111 obsolete constitutional megaloblastic anemia due to folate metabolism disorder skos:exactMatch Orphanet:98408 Constitutional megaloblastic anemia due to folate metabolism disorder semapv:UnspecifiedMatching MONDO:0020112 vitamin B12- and folate-independent constitutional megaloblastic anemia skos:exactMatch MEDGEN:1842832 semapv:UnspecifiedMatching MONDO:0020112 vitamin B12- and folate-independent constitutional megaloblastic anemia skos:exactMatch Orphanet:98415 Vitamin B12- and folate-independent constitutional megaloblastic anemia semapv:UnspecifiedMatching MONDO:0020112 vitamin B12- and folate-independent constitutional megaloblastic anemia skos:exactMatch UMLS:C5681710 semapv:UnspecifiedMatching MONDO:0020113 primary acquired red cell aplasia skos:exactMatch Orphanet:98421 Primary acquired red cell aplasia semapv:UnspecifiedMatching MONDO:0020115 secondary polycythemia skos:exactMatch ICD10CM:D75.1 Secondary polycythemia semapv:UnspecifiedMatching MONDO:0020115 secondary polycythemia skos:exactMatch MEDGEN:231144 semapv:UnspecifiedMatching MONDO:0020115 secondary polycythemia skos:exactMatch NCIT:C27178 Secondary Polycythemia semapv:UnspecifiedMatching MONDO:0020115 secondary polycythemia skos:exactMatch Orphanet:98428 Secondary polycythemia semapv:UnspecifiedMatching MONDO:0020115 secondary polycythemia skos:exactMatch UMLS:C1318533 semapv:UnspecifiedMatching MONDO:0020116 obsolete rare blood coagulation disease skos:exactMatch Orphanet:98429 Rare coagulation disorder semapv:UnspecifiedMatching MONDO:0020117 alpha granule disease skos:exactMatch MEDGEN:1842309 semapv:UnspecifiedMatching MONDO:0020117 alpha granule disease skos:exactMatch Orphanet:98455 Alpha granule disease semapv:UnspecifiedMatching MONDO:0020117 alpha granule disease skos:exactMatch UMLS:C5681720 semapv:UnspecifiedMatching MONDO:0020117 alpha granule disease skos:exactMatch icd11.foundation:237567451 Alpha-granule diseases semapv:UnspecifiedMatching MONDO:0020118 obsolete dense granule disease skos:exactMatch Orphanet:98456 Dense granule disease semapv:UnspecifiedMatching MONDO:0020118 obsolete dense granule disease skos:exactMatch icd11.foundation:1930060978 Dense granule disease semapv:UnspecifiedMatching MONDO:0020119 X-linked syndromic intellectual disability skos:exactMatch DOID:0060309 syndromic X-linked intellectual disability semapv:UnspecifiedMatching MONDO:0020119 X-linked syndromic intellectual disability skos:exactMatch OMIMPS:309510 Intellectual developmental disorder, X-linked syndromic semapv:UnspecifiedMatching MONDO:0020120 skeletal muscle disorder skos:exactMatch MEDGEN:735900 semapv:UnspecifiedMatching MONDO:0020120 skeletal muscle disorder skos:exactMatch Orphanet:98472 Skeletal muscle disease semapv:UnspecifiedMatching MONDO:0020120 skeletal muscle disorder skos:exactMatch SCTID:75047002 semapv:UnspecifiedMatching MONDO:0020120 skeletal muscle disorder skos:exactMatch UMLS:C1533847 semapv:UnspecifiedMatching MONDO:0020121 muscular dystrophy skos:exactMatch DOID:9884 muscular dystrophy semapv:UnspecifiedMatching MONDO:0020121 muscular dystrophy skos:exactMatch ICD10CM:G71.0 Muscular dystrophy semapv:UnspecifiedMatching MONDO:0020121 muscular dystrophy skos:exactMatch MEDGEN:44527 semapv:UnspecifiedMatching MONDO:0020121 muscular dystrophy skos:exactMatch NCIT:C84910 Muscular Dystrophy semapv:UnspecifiedMatching MONDO:0020121 muscular dystrophy skos:exactMatch Orphanet:98473 Muscular dystrophy semapv:UnspecifiedMatching MONDO:0020121 muscular dystrophy skos:exactMatch SCTID:73297009 semapv:UnspecifiedMatching MONDO:0020121 muscular dystrophy skos:exactMatch UMLS:C0026850 semapv:UnspecifiedMatching MONDO:0020121 muscular dystrophy skos:exactMatch icd11.foundation:1464662404 Muscular dystrophy semapv:UnspecifiedMatching MONDO:0020121 muscular dystrophy skos:exactMatch mesh:D009136 semapv:UnspecifiedMatching MONDO:0020122 acquired idiopathic inflammatory myopathy skos:exactMatch Orphanet:98482 Idiopathic inflammatory myopathy semapv:UnspecifiedMatching MONDO:0020122 acquired idiopathic inflammatory myopathy skos:exactMatch icd11.foundation:464294586 Idiopathic inflammatory myopathy semapv:UnspecifiedMatching MONDO:0020123 metabolic myopathy skos:exactMatch MEDGEN:452364 semapv:UnspecifiedMatching MONDO:0020123 metabolic myopathy skos:exactMatch NCIT:C98985 Metabolic Myopathy semapv:UnspecifiedMatching MONDO:0020123 metabolic myopathy skos:exactMatch Orphanet:98486 Metabolic myopathy semapv:UnspecifiedMatching MONDO:0020123 metabolic myopathy skos:exactMatch SCTID:26111005 semapv:UnspecifiedMatching MONDO:0020123 metabolic myopathy skos:exactMatch UMLS:C0270984 semapv:UnspecifiedMatching MONDO:0020124 neuromuscular junction disease skos:exactMatch DOID:439 neuromuscular junction disease semapv:UnspecifiedMatching MONDO:0020124 neuromuscular junction disease skos:exactMatch MEDGEN:155665 semapv:UnspecifiedMatching MONDO:0020124 neuromuscular junction disease skos:exactMatch Orphanet:98491 Neuromuscular junction disease semapv:UnspecifiedMatching MONDO:0020124 neuromuscular junction disease skos:exactMatch SCTID:128213006 semapv:UnspecifiedMatching MONDO:0020124 neuromuscular junction disease skos:exactMatch UMLS:C0751950 semapv:UnspecifiedMatching MONDO:0020124 neuromuscular junction disease skos:exactMatch mesh:D020511 semapv:UnspecifiedMatching MONDO:0020125 obsolete acquired neuromuscular junction disease skos:exactMatch Orphanet:98494 Acquired neuromuscular junction disease semapv:UnspecifiedMatching MONDO:0020126 obsolete rare peripheral neuropathy skos:exactMatch Orphanet:98496 Rare peripheral neuropathy semapv:UnspecifiedMatching MONDO:0020127 hereditary peripheral neuropathy skos:exactMatch MEDGEN:1825937 semapv:UnspecifiedMatching MONDO:0020127 hereditary peripheral neuropathy skos:exactMatch Orphanet:98497 Genetic peripheral neuropathy semapv:UnspecifiedMatching MONDO:0020127 hereditary peripheral neuropathy skos:exactMatch UMLS:C5681733 semapv:UnspecifiedMatching MONDO:0020128 motor neuron disorder skos:exactMatch DOID:231 motor neuron disease semapv:UnspecifiedMatching MONDO:0020128 motor neuron disorder skos:exactMatch EFO:0003782 semapv:UnspecifiedMatching MONDO:0020128 motor neuron disorder skos:exactMatch ICD10CM:G12.2 Motor neuron disease semapv:UnspecifiedMatching MONDO:0020128 motor neuron disorder skos:exactMatch MEDGEN:38785 semapv:UnspecifiedMatching MONDO:0020128 motor neuron disorder skos:exactMatch Orphanet:98503 Motor neuron disease semapv:UnspecifiedMatching MONDO:0020128 motor neuron disorder skos:exactMatch SCTID:37340000 semapv:UnspecifiedMatching MONDO:0020128 motor neuron disorder skos:exactMatch UMLS:C0085084 semapv:UnspecifiedMatching MONDO:0020128 motor neuron disorder skos:exactMatch icd11.foundation:661720689 Motor neuron disease semapv:UnspecifiedMatching MONDO:0020128 motor neuron disorder skos:exactMatch mesh:D016472 semapv:UnspecifiedMatching MONDO:0020129 acquired motor neuron disease skos:exactMatch MEDGEN:1842733 semapv:UnspecifiedMatching MONDO:0020129 acquired motor neuron disease skos:exactMatch Orphanet:98506 Acquired motor neuron disease semapv:UnspecifiedMatching MONDO:0020129 acquired motor neuron disease skos:exactMatch UMLS:C5680367 semapv:UnspecifiedMatching MONDO:0020130 obsolete malformation of the cerebellar vermis skos:exactMatch Orphanet:98514 Malformation of the cerebellar vermis semapv:UnspecifiedMatching MONDO:0020131 obsolete malformation of the cerebellar hemispheres skos:exactMatch Orphanet:98516 Malformation of the cerebellar hemispheres semapv:UnspecifiedMatching MONDO:0020132 obsolete cranial nerve and nuclear aplasia skos:exactMatch Orphanet:98518 Cranial nerve and nuclear aplasia semapv:UnspecifiedMatching MONDO:0020133 obsolete posterior fossa malformation skos:exactMatch Orphanet:98519 Posterior fossa malformation semapv:UnspecifiedMatching MONDO:0020134 cystic malformation of the posterior fossa skos:exactMatch MEDGEN:783289 semapv:UnspecifiedMatching MONDO:0020134 cystic malformation of the posterior fossa skos:exactMatch SCTID:35111000119109 semapv:UnspecifiedMatching MONDO:0020134 cystic malformation of the posterior fossa skos:exactMatch UMLS:C3662134 semapv:UnspecifiedMatching MONDO:0020135 pontocerebellar hypoplasia skos:exactMatch DOID:0060264 pontocerebellar hypoplasia semapv:UnspecifiedMatching MONDO:0020135 pontocerebellar hypoplasia skos:exactMatch MEDGEN:224703 semapv:UnspecifiedMatching MONDO:0020135 pontocerebellar hypoplasia skos:exactMatch OMIMPS:607596 Pontocerebellar hypoplasia semapv:UnspecifiedMatching MONDO:0020135 pontocerebellar hypoplasia skos:exactMatch Orphanet:98523 Non-syndromic pontocerebellar hypoplasia semapv:UnspecifiedMatching MONDO:0020135 pontocerebellar hypoplasia skos:exactMatch SCTID:45163000 semapv:UnspecifiedMatching MONDO:0020135 pontocerebellar hypoplasia skos:exactMatch UMLS:C1261175 semapv:UnspecifiedMatching MONDO:0020135 pontocerebellar hypoplasia skos:exactMatch icd11.foundation:1565266279 Pontocerebellar hypoplasia semapv:UnspecifiedMatching MONDO:0020135 pontocerebellar hypoplasia skos:exactMatch mesh:C580383 semapv:UnspecifiedMatching MONDO:0020136 obsolete neurodegenerative disease with dementia skos:exactMatch Orphanet:98534 Neurodegenerative disease with dementia semapv:UnspecifiedMatching MONDO:0020137 obsolete frontotemporal degeneration with dementia skos:exactMatch Orphanet:98535 Frontotemporal degeneration with dementia semapv:UnspecifiedMatching MONDO:0020138 obsolete ataxia with dementia skos:exactMatch Orphanet:98538 Ataxia with dementia semapv:UnspecifiedMatching MONDO:0020139 obsolete early-onset ataxia with dementia skos:exactMatch Orphanet:98539 Early-onset ataxia with dementia semapv:UnspecifiedMatching MONDO:0020140 obsolete late-onset ataxia with dementia skos:exactMatch Orphanet:98540 Late-onset ataxia with dementia semapv:UnspecifiedMatching MONDO:0020141 obsolete infectious disease with dementia skos:exactMatch Orphanet:98542 Infectious disease with dementia semapv:UnspecifiedMatching MONDO:0020142 obsolete metabolic disease with dementia skos:exactMatch Orphanet:98543 Metabolic disease with dementia semapv:UnspecifiedMatching MONDO:0020143 cerebral lipidosis with dementia skos:exactMatch DOID:10742 cerebral lipidosis semapv:UnspecifiedMatching MONDO:0020143 cerebral lipidosis with dementia skos:exactMatch MEDGEN:1825994 semapv:UnspecifiedMatching MONDO:0020143 cerebral lipidosis with dementia skos:exactMatch Orphanet:98544 Cerebral lipidosis with dementia semapv:UnspecifiedMatching MONDO:0020143 cerebral lipidosis with dementia skos:exactMatch SCTID:16517004 semapv:UnspecifiedMatching MONDO:0020143 cerebral lipidosis with dementia skos:exactMatch UMLS:C5681730 semapv:UnspecifiedMatching MONDO:0020144 obsolete cerebrovascular dementia skos:exactMatch Orphanet:98549 Rare cerebrovascular dementia semapv:UnspecifiedMatching MONDO:0020145 obsolete developmental defect of the eye skos:exactMatch Orphanet:98553 Developmental defect of the eye semapv:UnspecifiedMatching MONDO:0020146 obsolete major induction processes eye anomaly skos:exactMatch Orphanet:98554 OBSOLETE: Major induction processes eye anomaly semapv:UnspecifiedMatching MONDO:0020147 obsolete anophthalmia-microphthalmia syndrome skos:exactMatch Orphanet:98555 Microphthalmia-anophthalmia-coloboma semapv:UnspecifiedMatching MONDO:0020148 obsolete syndromic aniridia skos:exactMatch Orphanet:98557 Syndromic aniridia semapv:UnspecifiedMatching MONDO:0020149 obsolete rare eye disease due to a differentiation anomaly skos:exactMatch Orphanet:98558 OBSOLETE: Rare eye disease due to a differentiation anomaly semapv:UnspecifiedMatching MONDO:0020150 obsolete obsolete rare palpebral, lacrimal system and conjunctival disease skos:exactMatch Orphanet:98559 OBSOLETE: Rare palpebral, lacrimal system and conjunctival disease semapv:UnspecifiedMatching MONDO:0020151 obsolete rare palpebral disease skos:exactMatch Orphanet:98560 Rare palpebral disorder semapv:UnspecifiedMatching MONDO:0020152 obsolete rare eyelid malformation skos:exactMatch Orphanet:98561 Congenital malformation of the eyelid semapv:UnspecifiedMatching MONDO:0020153 cryptophthalmia skos:exactMatch DOID:0111716 cryptophthalmia semapv:UnspecifiedMatching MONDO:0020153 cryptophthalmia skos:exactMatch MEDGEN:81386 semapv:UnspecifiedMatching MONDO:0020153 cryptophthalmia skos:exactMatch NCIT:C124520 Cryptophthalmia semapv:UnspecifiedMatching MONDO:0020153 cryptophthalmia skos:exactMatch Orphanet:98562 Cryptophthalmia semapv:UnspecifiedMatching MONDO:0020153 cryptophthalmia skos:exactMatch SCTID:400951005 semapv:UnspecifiedMatching MONDO:0020153 cryptophthalmia skos:exactMatch UMLS:C0311249 semapv:UnspecifiedMatching MONDO:0020153 cryptophthalmia skos:exactMatch icd11.foundation:740223582 Cryptophthalmia semapv:UnspecifiedMatching MONDO:0020154 obsolete microblepharon-ablephara syndrome skos:exactMatch Orphanet:98563 Microblepharon-ablephara syndrome semapv:UnspecifiedMatching MONDO:0020155 obsolete eyelid border anomaly skos:exactMatch Orphanet:98564 Eyelid border anomaly semapv:UnspecifiedMatching MONDO:0020156 obsolete syndromic ankyloblepharon skos:exactMatch Orphanet:98565 Syndromic ankyloblepharon filiforme adnatum semapv:UnspecifiedMatching MONDO:0020157 obsolete syndromic palpebral coloboma skos:exactMatch Orphanet:98566 Syndromic eyelid coloboma semapv:UnspecifiedMatching MONDO:0020158 obsolete eyelids malposition disorder skos:exactMatch Orphanet:98567 Rare eyelid malposition disorder semapv:UnspecifiedMatching MONDO:0020159 congenital entropion skos:exactMatch ICD10CM:Q10.2 Congenital entropion semapv:UnspecifiedMatching MONDO:0020159 congenital entropion skos:exactMatch MEDGEN:540011 semapv:UnspecifiedMatching MONDO:0020159 congenital entropion skos:exactMatch SCTID:20392000 semapv:UnspecifiedMatching MONDO:0020159 congenital entropion skos:exactMatch UMLS:C0266579 semapv:UnspecifiedMatching MONDO:0020160 obsolete secondary entropion skos:exactMatch Orphanet:98569 OBSOLETE: Secondary entropion semapv:UnspecifiedMatching MONDO:0020161 congenital ectropion skos:exactMatch ICD10CM:Q10.1 Congenital ectropion semapv:UnspecifiedMatching MONDO:0020161 congenital ectropion skos:exactMatch MEDGEN:540010 semapv:UnspecifiedMatching MONDO:0020161 congenital ectropion skos:exactMatch Orphanet:98570 Congenital ectropion semapv:UnspecifiedMatching MONDO:0020161 congenital ectropion skos:exactMatch SCTID:26590002 semapv:UnspecifiedMatching MONDO:0020161 congenital ectropion skos:exactMatch UMLS:C0266578 semapv:UnspecifiedMatching MONDO:0020161 congenital ectropion skos:exactMatch icd11.foundation:945558601 Congenital ectropion semapv:UnspecifiedMatching MONDO:0020162 obsolete secondary ectropion skos:exactMatch Orphanet:98571 Secondary ectropion semapv:UnspecifiedMatching MONDO:0020163 obsolete canthal anomaly skos:exactMatch Orphanet:98572 OBSOLETE: Canthal anomaly semapv:UnspecifiedMatching MONDO:0020164 obsolete epicanthal fold skos:exactMatch Orphanet:98573 OBSOLETE: Epicanthal fold semapv:UnspecifiedMatching MONDO:0020165 obsolete syndromic epicanthus skos:exactMatch Orphanet:98574 Syndromic epicanthus semapv:UnspecifiedMatching MONDO:0020167 obsolete malposition of external canthus skos:exactMatch Orphanet:98576 Syndromic outer canthal malposition semapv:UnspecifiedMatching MONDO:0020168 obsolete kinetic eyelid anomaly skos:exactMatch Orphanet:98577 OBSOLETE: Kinetic eyelid anomaly semapv:UnspecifiedMatching MONDO:0020169 obsolete rare disorder with ptosis skos:exactMatch Orphanet:98578 Rare disorder with ptosis semapv:UnspecifiedMatching MONDO:0020170 obsolete congenital upper palpebral retraction skos:exactMatch Orphanet:98579 OBSOLETE: Congenital upper palpebral retraction semapv:UnspecifiedMatching MONDO:0020172 palpebral epidermal tumor skos:exactMatch MEDGEN:712469 semapv:UnspecifiedMatching MONDO:0020172 palpebral epidermal tumor skos:exactMatch SCTID:126499002 semapv:UnspecifiedMatching MONDO:0020172 palpebral epidermal tumor skos:exactMatch UMLS:C1290083 semapv:UnspecifiedMatching MONDO:0020174 obsolete precancerous lesion of palpebral epidermis skos:exactMatch Orphanet:98583 OBSOLETE: Precancerous lesion of palpebral epidermis semapv:UnspecifiedMatching MONDO:0020176 obsolete palpebral sebaceous gland tumor skos:exactMatch Orphanet:98585 OBSOLETE: Palpebral sebaceous gland tumor semapv:UnspecifiedMatching MONDO:0020177 obsolete pigmented palpebral tumor skos:exactMatch Orphanet:98586 OBSOLETE: Pigmented palpebral tumor semapv:UnspecifiedMatching MONDO:0020178 obsolete palpebral lentiginosis skos:exactMatch Orphanet:98587 OBSOLETE: Palpebral lentiginosis semapv:UnspecifiedMatching MONDO:0020179 palpebral nevus skos:exactMatch MEDGEN:65985 semapv:UnspecifiedMatching MONDO:0020179 palpebral nevus skos:exactMatch NCIT:C3880 Eyelid Nevus semapv:UnspecifiedMatching MONDO:0020179 palpebral nevus skos:exactMatch SCTID:231827008 semapv:UnspecifiedMatching MONDO:0020179 palpebral nevus skos:exactMatch UMLS:C0239460 semapv:UnspecifiedMatching MONDO:0020180 obsolete palpebral piliary tumor skos:exactMatch Orphanet:98590 OBSOLETE: Palpebral piliary tumor semapv:UnspecifiedMatching MONDO:0020181 obsolete mesenchymatous palpebral tumor skos:exactMatch Orphanet:98591 OBSOLETE: Mesenchymatous palpebral tumor semapv:UnspecifiedMatching MONDO:0020182 obsolete palpebral tumor with a vascular malformation skos:exactMatch Orphanet:98592 OBSOLETE: Palpebral tumor with a vascular malformation semapv:UnspecifiedMatching MONDO:0020184 obsolete rare eyebrow/eyelashes anomaly skos:exactMatch Orphanet:98594 Rare eyebrow/eyelash disorder semapv:UnspecifiedMatching MONDO:0020185 obsolete eyebrow/eyelashes hypertrichosis skos:exactMatch Orphanet:98595 OBSOLETE: Eyebrow/eyelashes hypertrichosis semapv:UnspecifiedMatching MONDO:0020186 obsolete eyebrow hypertrophy skos:exactMatch Orphanet:98596 OBSOLETE: Eyebrow hypertrophy semapv:UnspecifiedMatching MONDO:0020187 obsolete eyelashes hypertrophy skos:exactMatch Orphanet:98597 OBSOLETE: Eyelashes hypertrophy semapv:UnspecifiedMatching MONDO:0020188 obsolete congenital absence of the eyebrow/eyelashes skos:exactMatch Orphanet:98598 OBSOLETE: Congenital absence of the eyebrow/eyelashes semapv:UnspecifiedMatching MONDO:0020189 obsolete eyebrow/eyelashes structural anomaly skos:exactMatch Orphanet:98599 OBSOLETE: Eyebrow/eyelashes structural anomaly semapv:UnspecifiedMatching MONDO:0020190 obsolete eyebrow/eyelashes distichiasis skos:exactMatch Orphanet:98600 OBSOLETE: Eyebrow/eyelashes distichiasis semapv:UnspecifiedMatching MONDO:0020191 obsolete eyebrow/eyelashes pigmentation anomaly skos:exactMatch Orphanet:98601 OBSOLETE: Eyebrow/eyelashes pigmentation anomaly semapv:UnspecifiedMatching MONDO:0020192 obsolete rare lacrimal system disease skos:exactMatch Orphanet:98602 Rare disorder of the lacrimal apparatus semapv:UnspecifiedMatching MONDO:0020193 obsolete secretory apparatus of the lacrimal system anomaly skos:exactMatch Orphanet:98603 OBSOLETE: Secretory apparatus of the lacrimal system anomaly semapv:UnspecifiedMatching MONDO:0020194 obsolete congenital alacrima skos:exactMatch Orphanet:98604 Congenital alacrima semapv:UnspecifiedMatching MONDO:0020195 obsolete excretory apparatus of the lacrimal system anomaly skos:exactMatch Orphanet:98605 Lacrimal drainage system anomaly semapv:UnspecifiedMatching MONDO:0020196 obsolete anomaly of the secretory and excretory apparatus of the lacrimal system skos:exactMatch Orphanet:98608 OBSOLETE: Anomaly of the secretory and excretory apparatus of the lacrimal system semapv:UnspecifiedMatching MONDO:0020197 obsolete EEC syndrome and related syndrome skos:exactMatch Orphanet:98609 EEC syndrome and related disorders semapv:UnspecifiedMatching MONDO:0020198 obsolete rare conjunctival disease skos:exactMatch Orphanet:98610 Rare disorder with conjunctival involvement as a major feature semapv:UnspecifiedMatching MONDO:0020199 obsolete conjunctival vascular anomaly skos:exactMatch Orphanet:98611 OBSOLETE: Conjunctival vascular anomaly semapv:UnspecifiedMatching MONDO:0020200 obsolete conjunctival hemangioma or hemolymphangioma skos:exactMatch Orphanet:98612 OBSOLETE: Conjunctival hemangioma or hemolymphangioma semapv:UnspecifiedMatching MONDO:0020201 obsolete conjunctival telangiectasia skos:exactMatch Orphanet:98613 OBSOLETE: Conjunctival telangiectasia semapv:UnspecifiedMatching MONDO:0020202 obsolete conjunctival lymphangiectasia skos:exactMatch Orphanet:98614 OBSOLETE: Conjunctival lymphangiectasia semapv:UnspecifiedMatching MONDO:0020202 obsolete conjunctival lymphangiectasia skos:exactMatch SCTID:231871007 semapv:UnspecifiedMatching MONDO:0020203 obsolete pigmented conjunctival lesion skos:exactMatch Orphanet:98615 OBSOLETE: Pigmented conjunctival lesion semapv:UnspecifiedMatching MONDO:0020204 conjunctival tumor skos:exactMatch MEDGEN:3208 semapv:UnspecifiedMatching MONDO:0020204 conjunctival tumor skos:exactMatch NCIT:C2961 Conjunctival Neoplasm semapv:UnspecifiedMatching MONDO:0020204 conjunctival tumor skos:exactMatch UMLS:C0009761 semapv:UnspecifiedMatching MONDO:0020205 obsolete bulbar conjunctival dermoid or conjunctival dermolipoma skos:exactMatch Orphanet:98617 OBSOLETE: Bulbar conjunctival dermoid or conjunctival dermolipoma semapv:UnspecifiedMatching MONDO:0020206 obsolete rare refraction anomaly skos:exactMatch Orphanet:98618 Rare refraction anomaly semapv:UnspecifiedMatching MONDO:0020207 obsolete rare isolated myopia skos:exactMatch Orphanet:98619 Rare isolated myopia semapv:UnspecifiedMatching MONDO:0020208 obsolete syndromic myopia skos:exactMatch Orphanet:98620 OBSOLETE: Syndromic myopia semapv:UnspecifiedMatching MONDO:0020209 obsolete rare hyperopia and astigmatism skos:exactMatch Orphanet:98621 Rare hyperopia and astigmatism semapv:UnspecifiedMatching MONDO:0020210 obsolete syndromic hyperopia skos:exactMatch Orphanet:98622 Syndromic hyperopia semapv:UnspecifiedMatching MONDO:0020211 obsolete syndromic keratoconus skos:exactMatch Orphanet:98623 Syndromic keratoconus semapv:UnspecifiedMatching MONDO:0020212 superficial corneal dystrophy skos:exactMatch MEDGEN:746687 semapv:UnspecifiedMatching MONDO:0020212 superficial corneal dystrophy skos:exactMatch Orphanet:98625 Superficial corneal dystrophy semapv:UnspecifiedMatching MONDO:0020212 superficial corneal dystrophy skos:exactMatch SCTID:430888006 semapv:UnspecifiedMatching MONDO:0020212 superficial corneal dystrophy skos:exactMatch UMLS:C2315777 semapv:UnspecifiedMatching MONDO:0020213 stromal corneal dystrophy skos:exactMatch DOID:0060442 stromal dystrophy semapv:UnspecifiedMatching MONDO:0020213 stromal corneal dystrophy skos:exactMatch MEDGEN:20973 semapv:UnspecifiedMatching MONDO:0020213 stromal corneal dystrophy skos:exactMatch Orphanet:98626 Stromal corneal dystrophy semapv:UnspecifiedMatching MONDO:0020213 stromal corneal dystrophy skos:exactMatch SCTID:231931001 semapv:UnspecifiedMatching MONDO:0020213 stromal corneal dystrophy skos:exactMatch UMLS:C0038457 semapv:UnspecifiedMatching MONDO:0020213 stromal corneal dystrophy skos:exactMatch icd11.foundation:1392780216 Stromal corneal dystrophy semapv:UnspecifiedMatching MONDO:0020214 posterior corneal dystrophy skos:exactMatch MEDGEN:810969 semapv:UnspecifiedMatching MONDO:0020214 posterior corneal dystrophy skos:exactMatch Orphanet:98627 Posterior corneal dystrophy semapv:UnspecifiedMatching MONDO:0020214 posterior corneal dystrophy skos:exactMatch SCTID:35091000119101 semapv:UnspecifiedMatching MONDO:0020214 posterior corneal dystrophy skos:exactMatch UMLS:C2063478 semapv:UnspecifiedMatching MONDO:0020214 posterior corneal dystrophy skos:exactMatch icd11.foundation:570101963 Posterior corneal dystrophy semapv:UnspecifiedMatching MONDO:0020215 obsolete syndromic corneal dystrophy skos:exactMatch Orphanet:98628 Syndromic corneal dystrophy semapv:UnspecifiedMatching MONDO:0020216 obsolete secondary dysgenetic glaucoma skos:exactMatch Orphanet:98631 Congenital malformation of the eye with glaucoma as a major feature semapv:UnspecifiedMatching MONDO:0020217 obsolete secondary dysgenetic glaucoma associated with neural crest cell migration anomaly skos:exactMatch Orphanet:98632 OBSOLETE: Glaucoma associated with neural crest cell migration anomaly semapv:UnspecifiedMatching MONDO:0020218 obsolete goniodysgenesis skos:exactMatch Orphanet:98633 OBSOLETE: Goniodysgenesis semapv:UnspecifiedMatching MONDO:0020218 obsolete goniodysgenesis skos:exactMatch SCTID:251730004 semapv:UnspecifiedMatching MONDO:0020219 obsolete corneogoniodysgenesis skos:exactMatch Orphanet:98635 Corneodysgenesis semapv:UnspecifiedMatching MONDO:0020220 obsolete corneoiridogoniodysgenesis skos:exactMatch Orphanet:98636 OBSOLETE: Corneoiridogoniodysgenesis semapv:UnspecifiedMatching MONDO:0020221 obsolete secondary glaucoma due to a proliferation and differentiation anomaly skos:exactMatch Orphanet:98637 OBSOLETE: Secondary glaucoma due to a proliferation and differentiation anomaly semapv:UnspecifiedMatching MONDO:0020222 obsolete rare disease with glaucoma as a major feature skos:exactMatch Orphanet:98638 Rare disease with glaucoma as a major feature semapv:UnspecifiedMatching MONDO:0020223 obsolete lens and zonula anomaly skos:exactMatch Orphanet:98639 Rare lens disease semapv:UnspecifiedMatching MONDO:0020224 obsolete rare cataract skos:exactMatch Orphanet:98640 Rare disorder with lens opacification semapv:UnspecifiedMatching MONDO:0020225 obsolete syndromic cataract skos:exactMatch Orphanet:98641 Syndromic cataract semapv:UnspecifiedMatching MONDO:0020226 obsolete chromosomal anomaly with cataract skos:exactMatch Orphanet:98642 Chromosomal anomaly with cataract semapv:UnspecifiedMatching MONDO:0020227 obsolete systemic disease with cataract skos:exactMatch Orphanet:98643 OBSOLETE: Systemic disease with cataract semapv:UnspecifiedMatching MONDO:0020228 obsolete cataract associated with a metabolic disease skos:exactMatch Orphanet:98644 Metabolic disease with cataract semapv:UnspecifiedMatching MONDO:0020229 obsolete cerebral disease with cataract skos:exactMatch Orphanet:98645 OBSOLETE: Cerebral disease with cataract semapv:UnspecifiedMatching MONDO:0020230 obsolete renal disease with cataract skos:exactMatch Orphanet:98646 Renal disease with cataract semapv:UnspecifiedMatching MONDO:0020231 obsolete cardiac disease with cataract skos:exactMatch Orphanet:98647 OBSOLETE: Cardiac disease with cataract semapv:UnspecifiedMatching MONDO:0020232 obsolete musculoskeletal disease with cataract skos:exactMatch Orphanet:98648 Musculoskeletal disease with cataract semapv:UnspecifiedMatching MONDO:0020233 obsolete dentocutaneous disease with cataract skos:exactMatch Orphanet:98649 Dentocutaneous disease with cataract semapv:UnspecifiedMatching MONDO:0020234 obsolete craniofacial anomaly with cataract skos:exactMatch Orphanet:98650 Craniofacial anomaly with cataract semapv:UnspecifiedMatching MONDO:0020235 obsolete lens size anomaly skos:exactMatch Orphanet:98652 Lens size anomaly semapv:UnspecifiedMatching MONDO:0020236 obsolete lens position anomaly skos:exactMatch NCIT:C125484 Ectopia Lentis semapv:UnspecifiedMatching MONDO:0020236 obsolete lens position anomaly skos:exactMatch Orphanet:98653 Lens position anomaly semapv:UnspecifiedMatching MONDO:0020237 obsolete lens shape anomaly skos:exactMatch Orphanet:98655 Lens shape anomaly semapv:UnspecifiedMatching MONDO:0020238 obsolete inherited vitreous-retinal disease skos:exactMatch Orphanet:98657 OBSOLETE: Genetic vitreous-retinal disease semapv:UnspecifiedMatching MONDO:0020240 obsolete syndromic retinitis pigmentosa skos:exactMatch Orphanet:98661 Syndromic rod-cone dystrophy semapv:UnspecifiedMatching MONDO:0020241 obsolete unclassified familial retinal dystrophy skos:exactMatch Orphanet:98662 OBSOLETE: Unclassified familial retinal dystrophy semapv:UnspecifiedMatching MONDO:0020242 hereditary macular dystrophy skos:exactMatch MEDGEN:137919 semapv:UnspecifiedMatching MONDO:0020242 hereditary macular dystrophy skos:exactMatch NCIT:C140264 Genetic Macular Dystrophy semapv:UnspecifiedMatching MONDO:0020242 hereditary macular dystrophy skos:exactMatch SCTID:276436007 semapv:UnspecifiedMatching MONDO:0020242 hereditary macular dystrophy skos:exactMatch UMLS:C0339508 semapv:UnspecifiedMatching MONDO:0020243 obsolete colobomatous and areolar dystrophy skos:exactMatch Orphanet:98665 OBSOLETE: Colobomatous and areolar dystrophy semapv:UnspecifiedMatching MONDO:0020244 obsolete unclassified primitive or secondary maculopathy skos:exactMatch Orphanet:98666 OBSOLETE: Unclassified primitive or secondary maculopathy semapv:UnspecifiedMatching MONDO:0020245 obsolete disease predisposing to age-related macular degeneration skos:exactMatch Orphanet:98667 OBSOLETE: Disease predisposing to age-related macular degeneration semapv:UnspecifiedMatching MONDO:0020246 inherited vitreoretinopathy skos:exactMatch Orphanet:98668 Vitreoretinopathy semapv:UnspecifiedMatching MONDO:0020247 congenital vitreoretinal dysplasia skos:exactMatch MEDGEN:757909 semapv:UnspecifiedMatching MONDO:0020247 congenital vitreoretinal dysplasia skos:exactMatch SCTID:449866003 semapv:UnspecifiedMatching MONDO:0020247 congenital vitreoretinal dysplasia skos:exactMatch UMLS:C3266134 semapv:UnspecifiedMatching MONDO:0020247 congenital vitreoretinal dysplasia skos:exactMatch icd11.foundation:44221751 Congenital vitreoretinal dysplasia semapv:UnspecifiedMatching MONDO:0020248 vitreoretinal degeneration skos:exactMatch MEDGEN:87480 semapv:UnspecifiedMatching MONDO:0020248 vitreoretinal degeneration skos:exactMatch SCTID:247182006 semapv:UnspecifiedMatching MONDO:0020248 vitreoretinal degeneration skos:exactMatch UMLS:C0344290 semapv:UnspecifiedMatching MONDO:0020249 hereditary optic neuropathy skos:exactMatch Orphanet:98671 Hereditary optic neuropathy semapv:UnspecifiedMatching MONDO:0020249 hereditary optic neuropathy skos:exactMatch icd11.foundation:2452831 Hereditary optic neuropathy semapv:UnspecifiedMatching MONDO:0020250 autosomal dominant optic atrophy skos:exactMatch MEDGEN:1647918 semapv:UnspecifiedMatching MONDO:0020250 autosomal dominant optic atrophy skos:exactMatch NCIT:C84577 Autosomal Dominant Optic Atrophy semapv:UnspecifiedMatching MONDO:0020250 autosomal dominant optic atrophy skos:exactMatch Orphanet:98672 Autosomal dominant optic atrophy semapv:UnspecifiedMatching MONDO:0020250 autosomal dominant optic atrophy skos:exactMatch SCTID:2065009 semapv:UnspecifiedMatching MONDO:0020250 autosomal dominant optic atrophy skos:exactMatch UMLS:C4551508 semapv:UnspecifiedMatching MONDO:0020250 autosomal dominant optic atrophy skos:exactMatch mesh:D029241 semapv:UnspecifiedMatching MONDO:0020251 obsolete rare strabismus and restriction syndrome skos:exactMatch Orphanet:98681 Rare disorder with strabismus semapv:UnspecifiedMatching MONDO:0020253 obsolete syndrome with a symptomatic strabismus skos:exactMatch Orphanet:98683 Syndromic disorder with strabismus semapv:UnspecifiedMatching MONDO:0020254 obsolete craniostenosis associated with a strabismus skos:exactMatch Orphanet:98684 Craniostenosis with strabismus semapv:UnspecifiedMatching MONDO:0020257 supranuclear oculomotor palsy skos:exactMatch MEDGEN:1842980 semapv:UnspecifiedMatching MONDO:0020257 supranuclear oculomotor palsy skos:exactMatch Orphanet:98687 Supranuclear eye movement disorder semapv:UnspecifiedMatching MONDO:0020257 supranuclear oculomotor palsy skos:exactMatch UMLS:C5681698 semapv:UnspecifiedMatching MONDO:0020258 obsolete oculomotor apraxia or related oculomotor disease skos:exactMatch Orphanet:98688 Oculomotor apraxia semapv:UnspecifiedMatching MONDO:0020258 obsolete oculomotor apraxia or related oculomotor disease skos:exactMatch icd11.foundation:855225863 Oculomotor apraxia semapv:UnspecifiedMatching MONDO:0020259 obsolete myopathy with eye involvement skos:exactMatch Orphanet:98689 OBSOLETE: Myopathy with eye involvement semapv:UnspecifiedMatching MONDO:0020260 obsolete myasthenic syndrome with eye involvement skos:exactMatch Orphanet:98690 OBSOLETE: Myasthenic syndrome with eye involvement semapv:UnspecifiedMatching MONDO:0020261 obsolete neurological disease with abnormal eye movements skos:exactMatch Orphanet:98691 OBSOLETE: Abnormal eye movements semapv:UnspecifiedMatching MONDO:0020262 obsolete nervous system anomaly with eye involvement skos:exactMatch Orphanet:98692 OBSOLETE: Nervous system anomaly with eye involvement semapv:UnspecifiedMatching MONDO:0020263 obsolete spinocerebellar ataxia with oculomotor anomaly skos:exactMatch Orphanet:98693 OBSOLETE: Spinocerebellar ataxia with oculomotor anomaly semapv:UnspecifiedMatching MONDO:0020264 obsolete spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly skos:exactMatch Orphanet:98694 OBSOLETE: Spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly semapv:UnspecifiedMatching MONDO:0020265 obsolete mitochondrial disease with eye involvement skos:exactMatch Orphanet:98695 OBSOLETE: Mitochondrial disease with eye involvement semapv:UnspecifiedMatching MONDO:0020266 obsolete genodermatosis with ocular features skos:exactMatch Orphanet:98696 OBSOLETE: Genodermatosis with ocular features semapv:UnspecifiedMatching MONDO:0020267 obsolete genetic keratinization disorder associated with ocular features skos:exactMatch Orphanet:98697 OBSOLETE: Genetic keratinization disorder associated with ocular features semapv:UnspecifiedMatching MONDO:0020268 obsolete ichthyosis associated with ocular features skos:exactMatch Orphanet:98698 OBSOLETE: Ichthyosis associated with ocular features semapv:UnspecifiedMatching MONDO:0020269 obsolete syndromic ichthyosis associated with ocular features skos:exactMatch Orphanet:98699 OBSOLETE: Syndromic ichthyosis associated with ocular features semapv:UnspecifiedMatching MONDO:0020270 obsolete pigmentation disorder with eye involvement skos:exactMatch Orphanet:98700 OBSOLETE: Pigmentation disorder with eye involvement semapv:UnspecifiedMatching MONDO:0020271 obsolete phakomatosis with eye involvement skos:exactMatch Orphanet:98701 OBSOLETE: Phakomatosis with eye involvement semapv:UnspecifiedMatching MONDO:0020273 obsolete disease with potential neoplastic degeneration associated with ocular features skos:exactMatch Orphanet:98703 OBSOLETE: Disease with potential neoplastic degeneration associated with ocular features semapv:UnspecifiedMatching MONDO:0020274 obsolete onycho-patellar syndrome with eye involvement skos:exactMatch Orphanet:98704 OBSOLETE: Onycho-patellar syndrome with eye involvement semapv:UnspecifiedMatching MONDO:0020275 obsolete oculocutaneous or ocular albinism skos:exactMatch Orphanet:98706 Oculocutaneous or ocular albinism semapv:UnspecifiedMatching MONDO:0020276 obsolete pigmentation disorder with eye involvement, excluding albinism skos:exactMatch Orphanet:98708 OBSOLETE: Pigmentation disorder with eye involvement, excluding albinism semapv:UnspecifiedMatching MONDO:0020278 obsolete metabolic disease associated with ocular features skos:exactMatch Orphanet:98710 OBSOLETE: Metabolic disease associated with ocular features semapv:UnspecifiedMatching MONDO:0020279 obsolete metabolic disease with corneal opacity skos:exactMatch Orphanet:98711 OBSOLETE: Metabolic disease with corneal opacity semapv:UnspecifiedMatching MONDO:0020280 obsolete metabolic disease with cataract skos:exactMatch Orphanet:98712 OBSOLETE: Metabolic disease with cataract semapv:UnspecifiedMatching MONDO:0020281 obsolete metabolic disease with pigmentary retinitis skos:exactMatch Orphanet:98713 OBSOLETE: Metabolic disease with pigmentary retinitis semapv:UnspecifiedMatching MONDO:0020282 obsolete metabolic disease with macular cherry-red spot skos:exactMatch Orphanet:98714 OBSOLETE: Metabolic disease with macular cherry-red spot semapv:UnspecifiedMatching MONDO:0020283 uveitis skos:exactMatch DOID:13141 uveitis semapv:UnspecifiedMatching MONDO:0020283 uveitis skos:exactMatch EFO:1001231 semapv:UnspecifiedMatching MONDO:0020283 uveitis skos:exactMatch MEDGEN:52961 semapv:UnspecifiedMatching MONDO:0020283 uveitis skos:exactMatch NCIT:C26909 Uveitis semapv:UnspecifiedMatching MONDO:0020283 uveitis skos:exactMatch Orphanet:98715 Uveitis semapv:UnspecifiedMatching MONDO:0020283 uveitis skos:exactMatch SCTID:128473001 semapv:UnspecifiedMatching MONDO:0020283 uveitis skos:exactMatch UMLS:C0042164 semapv:UnspecifiedMatching MONDO:0020283 uveitis skos:exactMatch mesh:D014605 semapv:UnspecifiedMatching MONDO:0020284 obsolete heart position anomaly skos:exactMatch Orphanet:98716 Heart position anomaly semapv:UnspecifiedMatching MONDO:0020285 obsolete transposition of the great arteries and conotruncal cardiac anomaly skos:exactMatch Orphanet:98717 Transposition of the great arteries and conotruncal cardiac anomaly semapv:UnspecifiedMatching MONDO:0020286 obsolete aortic malformation skos:exactMatch Orphanet:98718 Aortic malformation semapv:UnspecifiedMatching MONDO:0020287 obsolete pulmonary artery or pulmonary branch anomaly skos:exactMatch Orphanet:98719 Pulmonary artery or pulmonary branch anomaly semapv:UnspecifiedMatching MONDO:0020288 obsolete atrioventricular valve anomaly skos:exactMatch Orphanet:98720 Atrioventricular valve anomaly semapv:UnspecifiedMatching MONDO:0020289 congenital tricuspid malformation skos:exactMatch MEDGEN:1842501 semapv:UnspecifiedMatching MONDO:0020289 congenital tricuspid malformation skos:exactMatch Orphanet:98721 Congenital tricuspid malformation semapv:UnspecifiedMatching MONDO:0020289 congenital tricuspid malformation skos:exactMatch UMLS:C5681691 semapv:UnspecifiedMatching MONDO:0020290 familial atrioventricular septal defect skos:exactMatch DOID:0050651 atrioventricular septal defect semapv:UnspecifiedMatching MONDO:0020290 familial atrioventricular septal defect skos:exactMatch ICD10CM:Q21.2 Atrioventricular septal defect semapv:UnspecifiedMatching MONDO:0020290 familial atrioventricular septal defect skos:exactMatch NCIT:C101029 Atrioventricular Septal Defect semapv:UnspecifiedMatching MONDO:0020290 familial atrioventricular septal defect skos:exactMatch OMIMPS:606215 Atrioventricular septal defect semapv:UnspecifiedMatching MONDO:0020290 familial atrioventricular septal defect skos:exactMatch Orphanet:98722 Atrioventricular septal defect semapv:UnspecifiedMatching MONDO:0020290 familial atrioventricular septal defect skos:exactMatch SCTID:15459006 semapv:UnspecifiedMatching MONDO:0020291 hypoplastic right heart syndrome skos:exactMatch DOID:0070315 hypoplastic right heart syndrome semapv:UnspecifiedMatching MONDO:0020291 hypoplastic right heart syndrome skos:exactMatch ICD10CM:Q22.6 Hypoplastic right heart syndrome semapv:UnspecifiedMatching MONDO:0020291 hypoplastic right heart syndrome skos:exactMatch MEDGEN:83376 semapv:UnspecifiedMatching MONDO:0020291 hypoplastic right heart syndrome skos:exactMatch NCIT:C99053 Hypoplastic Right Heart Syndrome semapv:UnspecifiedMatching MONDO:0020291 hypoplastic right heart syndrome skos:exactMatch Orphanet:98723 Hypoplastic right heart syndrome semapv:UnspecifiedMatching MONDO:0020291 hypoplastic right heart syndrome skos:exactMatch SCTID:268180007 semapv:UnspecifiedMatching MONDO:0020291 hypoplastic right heart syndrome skos:exactMatch UMLS:C0344963 semapv:UnspecifiedMatching MONDO:0020292 congenital anomaly of the great arteries skos:exactMatch MEDGEN:798768 semapv:UnspecifiedMatching MONDO:0020292 congenital anomaly of the great arteries skos:exactMatch Orphanet:98724 Congenital anomaly of the great arteries semapv:UnspecifiedMatching MONDO:0020292 congenital anomaly of the great arteries skos:exactMatch UMLS:C0948632 semapv:UnspecifiedMatching MONDO:0020293 obsolete ascending aorta anomaly skos:exactMatch Orphanet:98725 Ascending aorta anomaly semapv:UnspecifiedMatching MONDO:0020294 obsolete atrial defect and interatrial communication skos:exactMatch Orphanet:98727 Rare atrial defect and interatrial communication semapv:UnspecifiedMatching MONDO:0020295 congenital pulmonary veins anomaly skos:exactMatch MEDGEN:539575 semapv:UnspecifiedMatching MONDO:0020295 congenital pulmonary veins anomaly skos:exactMatch NCIT:C110942 Congenital Anomaly of Pulmonary Veins semapv:UnspecifiedMatching MONDO:0020295 congenital pulmonary veins anomaly skos:exactMatch Orphanet:98729 Congenital pulmonary veins anomaly semapv:UnspecifiedMatching MONDO:0020295 congenital pulmonary veins anomaly skos:exactMatch SCTID:111322000 semapv:UnspecifiedMatching MONDO:0020295 congenital pulmonary veins anomaly skos:exactMatch UMLS:C0265914 semapv:UnspecifiedMatching MONDO:0020296 congenital arteriovenous fistula skos:exactMatch MEDGEN:137676 semapv:UnspecifiedMatching MONDO:0020296 congenital arteriovenous fistula skos:exactMatch NCIT:C35377 Congenital Arteriovenous Fistula semapv:UnspecifiedMatching MONDO:0020296 congenital arteriovenous fistula skos:exactMatch Orphanet:98731 Congenital arteriovenous fistula semapv:UnspecifiedMatching MONDO:0020296 congenital arteriovenous fistula skos:exactMatch SCTID:234148007 semapv:UnspecifiedMatching MONDO:0020296 congenital arteriovenous fistula skos:exactMatch UMLS:C0332965 semapv:UnspecifiedMatching MONDO:0020296 congenital arteriovenous fistula skos:exactMatch mesh:D001164 semapv:UnspecifiedMatching MONDO:0020297 Noonan syndrome and Noonan-related syndrome skos:exactMatch MEDGEN:1826127 semapv:UnspecifiedMatching MONDO:0020297 Noonan syndrome and Noonan-related syndrome skos:exactMatch Orphanet:98733 Noonan syndrome and Noonan-related syndrome semapv:UnspecifiedMatching MONDO:0020297 Noonan syndrome and Noonan-related syndrome skos:exactMatch UMLS:C5681679 semapv:UnspecifiedMatching MONDO:0020297 Noonan syndrome and Noonan-related syndrome skos:exactMatch mesh:C537846 semapv:UnspecifiedMatching MONDO:0020298 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 skos:exactMatch MEDGEN:1826079 semapv:UnspecifiedMatching MONDO:0020298 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 skos:exactMatch Orphanet:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 semapv:UnspecifiedMatching MONDO:0020298 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 skos:exactMatch UMLS:C5680343 semapv:UnspecifiedMatching MONDO:0020301 Prader-Willi syndrome due to paternal 15q11q13 deletion skos:exactMatch MEDGEN:1826129 semapv:UnspecifiedMatching MONDO:0020301 Prader-Willi syndrome due to paternal 15q11q13 deletion skos:exactMatch Orphanet:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion semapv:UnspecifiedMatching MONDO:0020301 Prader-Willi syndrome due to paternal 15q11q13 deletion skos:exactMatch UMLS:C5681699 semapv:UnspecifiedMatching MONDO:0020302 Angelman syndrome due to maternal 15q11q13 deletion skos:exactMatch MEDGEN:1797757 semapv:UnspecifiedMatching MONDO:0020302 Angelman syndrome due to maternal 15q11q13 deletion skos:exactMatch Orphanet:98794 Angelman syndrome due to maternal 15q11q13 deletion semapv:UnspecifiedMatching MONDO:0020302 Angelman syndrome due to maternal 15q11q13 deletion skos:exactMatch UMLS:C5566334 semapv:UnspecifiedMatching MONDO:0020303 Angelman syndrome due to paternal uniparental disomy of chromosome 15 skos:exactMatch MEDGEN:1826078 semapv:UnspecifiedMatching MONDO:0020303 Angelman syndrome due to paternal uniparental disomy of chromosome 15 skos:exactMatch Orphanet:98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15 semapv:UnspecifiedMatching MONDO:0020303 Angelman syndrome due to paternal uniparental disomy of chromosome 15 skos:exactMatch UMLS:C5680342 semapv:UnspecifiedMatching MONDO:0020304 isochromosomy Yp skos:exactMatch MEDGEN:1640451 semapv:UnspecifiedMatching MONDO:0020304 isochromosomy Yp skos:exactMatch Orphanet:98797 Isochromosomy Yp syndrome semapv:UnspecifiedMatching MONDO:0020304 isochromosomy Yp skos:exactMatch SCTID:766708008 semapv:UnspecifiedMatching MONDO:0020304 isochromosomy Yp skos:exactMatch UMLS:C4707793 semapv:UnspecifiedMatching MONDO:0020305 isochromosomy Yq skos:exactMatch MEDGEN:1665766 semapv:UnspecifiedMatching MONDO:0020305 isochromosomy Yq skos:exactMatch Orphanet:98798 Isochromosomy Yq syndrome semapv:UnspecifiedMatching MONDO:0020305 isochromosomy Yq skos:exactMatch UMLS:C4749291 semapv:UnspecifiedMatching MONDO:0020307 self-limited epilepsy with autonomic seizures skos:exactMatch MEDGEN:581520 semapv:UnspecifiedMatching MONDO:0020307 self-limited epilepsy with autonomic seizures skos:exactMatch Orphanet:98815 Self-limited epilepsy with autonomic seizures semapv:UnspecifiedMatching MONDO:0020307 self-limited epilepsy with autonomic seizures skos:exactMatch SCTID:230387008 semapv:UnspecifiedMatching MONDO:0020307 self-limited epilepsy with autonomic seizures skos:exactMatch UMLS:C0393676 semapv:UnspecifiedMatching MONDO:0020308 childhood occipital visual epilepsy skos:exactMatch MEDGEN:581521 semapv:UnspecifiedMatching MONDO:0020308 childhood occipital visual epilepsy skos:exactMatch Orphanet:98816 Childhood occipital visual epilepsy semapv:UnspecifiedMatching MONDO:0020308 childhood occipital visual epilepsy skos:exactMatch UMLS:C0393677 semapv:UnspecifiedMatching MONDO:0020310 familial focal epilepsy with variable foci skos:exactMatch DOID:0081420 familial focal epilepsy with variable foci semapv:UnspecifiedMatching MONDO:0020310 familial focal epilepsy with variable foci skos:exactMatch MEDGEN:348951 semapv:UnspecifiedMatching MONDO:0020310 familial focal epilepsy with variable foci skos:exactMatch OMIMPS:604364 Epilepsy, familial focal, with variable foci semapv:UnspecifiedMatching MONDO:0020310 familial focal epilepsy with variable foci skos:exactMatch Orphanet:98820 Familial focal epilepsy with variable foci semapv:UnspecifiedMatching MONDO:0020310 familial focal epilepsy with variable foci skos:exactMatch SCTID:764522009 semapv:UnspecifiedMatching MONDO:0020310 familial focal epilepsy with variable foci skos:exactMatch UMLS:C1858477 semapv:UnspecifiedMatching MONDO:0020310 familial focal epilepsy with variable foci skos:exactMatch icd11.foundation:855404450 Familial focal epilepsy with variable foci semapv:UnspecifiedMatching MONDO:0020310 familial focal epilepsy with variable foci skos:exactMatch mesh:C565785 semapv:UnspecifiedMatching MONDO:0020311 chronic myelomonocytic leukemia skos:exactMatch DOID:0080188 chronic myelomonocytic leukemia semapv:UnspecifiedMatching MONDO:0020311 chronic myelomonocytic leukemia skos:exactMatch EFO:1001779 semapv:UnspecifiedMatching MONDO:0020311 chronic myelomonocytic leukemia skos:exactMatch ICD10CM:C93.1 Chronic myelomonocytic leukemia semapv:UnspecifiedMatching MONDO:0020311 chronic myelomonocytic leukemia skos:exactMatch MEDGEN:44125 semapv:UnspecifiedMatching MONDO:0020311 chronic myelomonocytic leukemia skos:exactMatch NCIT:C3178 Chronic Myelomonocytic Leukemia semapv:UnspecifiedMatching MONDO:0020311 chronic myelomonocytic leukemia skos:exactMatch Orphanet:98823 Chronic myelomonocytic leukemia semapv:UnspecifiedMatching MONDO:0020311 chronic myelomonocytic leukemia skos:exactMatch SCTID:127225006 semapv:UnspecifiedMatching MONDO:0020311 chronic myelomonocytic leukemia skos:exactMatch UMLS:C0023480 semapv:UnspecifiedMatching MONDO:0020311 chronic myelomonocytic leukemia skos:exactMatch icd11.foundation:2073226578 Chronic myelomonocytic leukaemia semapv:UnspecifiedMatching MONDO:0020311 chronic myelomonocytic leukemia skos:exactMatch mesh:D015477 semapv:UnspecifiedMatching MONDO:0020313 obsolete unclassified myelodysplastic/myeloproliferative disease skos:exactMatch Orphanet:98825 Unclassified myelodysplastic/myeloproliferative disease semapv:UnspecifiedMatching MONDO:0020313 obsolete unclassified myelodysplastic/myeloproliferative disease skos:exactMatch icd11.foundation:855969668 Myeloproliferative and myelodysplastic disease, unclassifiable semapv:UnspecifiedMatching MONDO:0020315 obsolete unclassified myelodysplastic syndrome skos:exactMatch Orphanet:98827 Unclassified myelodysplastic syndrome semapv:UnspecifiedMatching MONDO:0020315 obsolete unclassified myelodysplastic syndrome skos:exactMatch icd11.foundation:1684468291 Myelodysplastic syndrome, unclassifiable semapv:UnspecifiedMatching MONDO:0020316 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) skos:exactMatch MEDGEN:1716406 semapv:UnspecifiedMatching MONDO:0020316 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) skos:exactMatch NCIT:C9287 Acute Myeloid Leukemia with inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFB-MYH11 semapv:UnspecifiedMatching MONDO:0020316 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) skos:exactMatch Orphanet:98829 Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) semapv:UnspecifiedMatching MONDO:0020316 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) skos:exactMatch UMLS:C5395080 semapv:UnspecifiedMatching MONDO:0020316 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) skos:exactMatch icd11.foundation:808954959 Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) semapv:UnspecifiedMatching MONDO:0020317 acute myeloid leukemia with 11q23 abnormalities skos:exactMatch MEDGEN:266234 semapv:UnspecifiedMatching MONDO:0020317 acute myeloid leukemia with 11q23 abnormalities skos:exactMatch NCIT:C82403 Acute Myeloid Leukemia with t(9;11)(p21.3;q23.3); MLLT3-KMT2A semapv:UnspecifiedMatching MONDO:0020317 acute myeloid leukemia with 11q23 abnormalities skos:exactMatch Orphanet:98831 Acute myeloid leukemia with 11q23 abnormalities semapv:UnspecifiedMatching MONDO:0020317 acute myeloid leukemia with 11q23 abnormalities skos:exactMatch SCTID:444911000 semapv:UnspecifiedMatching MONDO:0020317 acute myeloid leukemia with 11q23 abnormalities skos:exactMatch UMLS:C1292775 semapv:UnspecifiedMatching MONDO:0020320 acute myeloblastic leukemia with maturation skos:exactMatch DOID:0081087 acute myeloid leukemia with maturation semapv:UnspecifiedMatching MONDO:0020320 acute myeloblastic leukemia with maturation skos:exactMatch EFO:0003028 semapv:UnspecifiedMatching MONDO:0020320 acute myeloblastic leukemia with maturation skos:exactMatch MEDGEN:361829 semapv:UnspecifiedMatching MONDO:0020320 acute myeloblastic leukemia with maturation skos:exactMatch NCIT:C3250 Acute Myeloid Leukemia with Maturation semapv:UnspecifiedMatching MONDO:0020320 acute myeloblastic leukemia with maturation skos:exactMatch Orphanet:98834 Acute myeloblastic leukemia with maturation semapv:UnspecifiedMatching MONDO:0020320 acute myeloblastic leukemia with maturation skos:exactMatch UMLS:C1879321 semapv:UnspecifiedMatching MONDO:0020321 acute undifferentiated leukemia skos:exactMatch MEDGEN:79081 semapv:UnspecifiedMatching MONDO:0020321 acute undifferentiated leukemia skos:exactMatch NCIT:C9298 Acute Undifferentiated Leukemia semapv:UnspecifiedMatching MONDO:0020321 acute undifferentiated leukemia skos:exactMatch Orphanet:98835 Acute undifferentiated leukemia semapv:UnspecifiedMatching MONDO:0020321 acute undifferentiated leukemia skos:exactMatch SCTID:359631009 semapv:UnspecifiedMatching MONDO:0020321 acute undifferentiated leukemia skos:exactMatch UMLS:C0280141 semapv:UnspecifiedMatching MONDO:0020322 acute biphenotypic leukemia skos:exactMatch DOID:9953 acute biphenotypic leukemia semapv:UnspecifiedMatching MONDO:0020322 acute biphenotypic leukemia skos:exactMatch EFO:1000828 semapv:UnspecifiedMatching MONDO:0020322 acute biphenotypic leukemia skos:exactMatch MEDGEN:7318 semapv:UnspecifiedMatching MONDO:0020322 acute biphenotypic leukemia skos:exactMatch NCIT:C4673 Acute Biphenotypic Leukemia semapv:UnspecifiedMatching MONDO:0020322 acute biphenotypic leukemia skos:exactMatch SCTID:278453007 semapv:UnspecifiedMatching MONDO:0020322 acute biphenotypic leukemia skos:exactMatch UMLS:C0023464 semapv:UnspecifiedMatching MONDO:0020322 acute biphenotypic leukemia skos:exactMatch mesh:D015456 semapv:UnspecifiedMatching MONDO:0020323 primary mediastinal large B-cell lymphoma skos:exactMatch DOID:0080210 primary mediastinal B-cell lymphoma semapv:UnspecifiedMatching MONDO:0020323 primary mediastinal large B-cell lymphoma skos:exactMatch ICD10CM:C85.2 Mediastinal (thymic) large B-cell lymphoma semapv:UnspecifiedMatching MONDO:0020323 primary mediastinal large B-cell lymphoma skos:exactMatch MEDGEN:714984 semapv:UnspecifiedMatching MONDO:0020323 primary mediastinal large B-cell lymphoma skos:exactMatch NCIT:C9280 Primary Mediastinal Large B-Cell Lymphoma semapv:UnspecifiedMatching MONDO:0020323 primary mediastinal large B-cell lymphoma skos:exactMatch Orphanet:98838 Primary mediastinal large B-cell lymphoma semapv:UnspecifiedMatching MONDO:0020323 primary mediastinal large B-cell lymphoma skos:exactMatch SCTID:444910004 semapv:UnspecifiedMatching MONDO:0020323 primary mediastinal large B-cell lymphoma skos:exactMatch UMLS:C1292754 semapv:UnspecifiedMatching MONDO:0020323 primary mediastinal large B-cell lymphoma skos:exactMatch icd11.foundation:950282079 Primary mediastinal large B-cell lymphoma semapv:UnspecifiedMatching MONDO:0020324 intravascular large B-cell lymphoma skos:exactMatch DOID:0081311 intravascular large B-cell lymphoma semapv:UnspecifiedMatching MONDO:0020324 intravascular large B-cell lymphoma skos:exactMatch MEDGEN:90821 semapv:UnspecifiedMatching MONDO:0020324 intravascular large B-cell lymphoma skos:exactMatch NCIT:C4342 Intravascular Large B-Cell Lymphoma semapv:UnspecifiedMatching MONDO:0020324 intravascular large B-cell lymphoma skos:exactMatch Orphanet:98839 Intravascular large B-cell lymphoma semapv:UnspecifiedMatching MONDO:0020324 intravascular large B-cell lymphoma skos:exactMatch SCTID:255102004 semapv:UnspecifiedMatching MONDO:0020324 intravascular large B-cell lymphoma skos:exactMatch UMLS:C0334660 semapv:UnspecifiedMatching MONDO:0020324 intravascular large B-cell lymphoma skos:exactMatch icd11.foundation:952730197 Intravascular large B-cell lymphoma semapv:UnspecifiedMatching MONDO:0020325 anaplastic large cell lymphoma skos:exactMatch DOID:0050744 anaplastic large cell lymphoma semapv:UnspecifiedMatching MONDO:0020325 anaplastic large cell lymphoma skos:exactMatch EFO:0003032 semapv:UnspecifiedMatching MONDO:0020325 anaplastic large cell lymphoma skos:exactMatch MEDGEN:61533 semapv:UnspecifiedMatching MONDO:0020325 anaplastic large cell lymphoma skos:exactMatch NCIT:C3720 Anaplastic Large Cell Lymphoma semapv:UnspecifiedMatching MONDO:0020325 anaplastic large cell lymphoma skos:exactMatch Orphanet:98841 Anaplastic large cell lymphoma semapv:UnspecifiedMatching MONDO:0020325 anaplastic large cell lymphoma skos:exactMatch SCTID:277637000 semapv:UnspecifiedMatching MONDO:0020325 anaplastic large cell lymphoma skos:exactMatch UMLS:C0206180 semapv:UnspecifiedMatching MONDO:0020325 anaplastic large cell lymphoma skos:exactMatch mesh:D017728 semapv:UnspecifiedMatching MONDO:0020326 lymphomatoid papulosis skos:exactMatch MEDGEN:61534 semapv:UnspecifiedMatching MONDO:0020326 lymphomatoid papulosis skos:exactMatch NCIT:C3721 Lymphomatoid Papulosis semapv:UnspecifiedMatching MONDO:0020326 lymphomatoid papulosis skos:exactMatch Orphanet:98842 Lymphomatoid papulosis semapv:UnspecifiedMatching MONDO:0020326 lymphomatoid papulosis skos:exactMatch SCTID:31047003 semapv:UnspecifiedMatching MONDO:0020326 lymphomatoid papulosis skos:exactMatch UMLS:C0206182 semapv:UnspecifiedMatching MONDO:0020326 lymphomatoid papulosis skos:exactMatch icd11.foundation:1791207220 Lymphomatoid papulosis semapv:UnspecifiedMatching MONDO:0020326 lymphomatoid papulosis skos:exactMatch mesh:D017731 semapv:UnspecifiedMatching MONDO:0020331 indolent systemic mastocytosis skos:exactMatch DOID:4660 indolent systemic mastocytosis semapv:UnspecifiedMatching MONDO:0020331 indolent systemic mastocytosis skos:exactMatch MEDGEN:82897 semapv:UnspecifiedMatching MONDO:0020331 indolent systemic mastocytosis skos:exactMatch NCIT:C9286 Indolent Systemic Mastocytosis semapv:UnspecifiedMatching MONDO:0020331 indolent systemic mastocytosis skos:exactMatch Orphanet:98848 Indolent systemic mastocytosis semapv:UnspecifiedMatching MONDO:0020331 indolent systemic mastocytosis skos:exactMatch SCTID:70910003 semapv:UnspecifiedMatching MONDO:0020331 indolent systemic mastocytosis skos:exactMatch UMLS:C0272203 semapv:UnspecifiedMatching MONDO:0020331 indolent systemic mastocytosis skos:exactMatch icd11.foundation:353283231 Indolent systemic mastocytosis semapv:UnspecifiedMatching MONDO:0020332 systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease skos:exactMatch DOID:4797 SM-AHNMD semapv:UnspecifiedMatching MONDO:0020332 systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease skos:exactMatch EFO:1000559 semapv:UnspecifiedMatching MONDO:0020332 systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease skos:exactMatch MEDGEN:226985 semapv:UnspecifiedMatching MONDO:0020332 systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease skos:exactMatch NCIT:C9284 Systemic Mastocytosis with an Associated Myeloid Neoplasm semapv:UnspecifiedMatching MONDO:0020332 systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease skos:exactMatch Orphanet:98849 Systemic mastocytosis with associated hematologic neoplasm semapv:UnspecifiedMatching MONDO:0020332 systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease skos:exactMatch SCTID:397015000 semapv:UnspecifiedMatching MONDO:0020332 systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease skos:exactMatch UMLS:C1301365 semapv:UnspecifiedMatching MONDO:0020333 aggressive systemic mastocytosis skos:exactMatch DOID:4798 aggressive systemic mastocytosis semapv:UnspecifiedMatching MONDO:0020333 aggressive systemic mastocytosis skos:exactMatch ICD10CM:C96.21 Aggressive systemic mastocytosis semapv:UnspecifiedMatching MONDO:0020333 aggressive systemic mastocytosis skos:exactMatch MEDGEN:206813 semapv:UnspecifiedMatching MONDO:0020333 aggressive systemic mastocytosis skos:exactMatch NCIT:C9285 Aggressive Systemic Mastocytosis semapv:UnspecifiedMatching MONDO:0020333 aggressive systemic mastocytosis skos:exactMatch Orphanet:98850 Aggressive systemic mastocytosis semapv:UnspecifiedMatching MONDO:0020333 aggressive systemic mastocytosis skos:exactMatch SCTID:716655008 semapv:UnspecifiedMatching MONDO:0020333 aggressive systemic mastocytosis skos:exactMatch UMLS:C1112486 semapv:UnspecifiedMatching MONDO:0020333 aggressive systemic mastocytosis skos:exactMatch icd11.foundation:870477963 Aggressive systemic mastocytosis semapv:UnspecifiedMatching MONDO:0020334 mast cell leukemia skos:exactMatch DOID:9254 mast-cell leukemia semapv:UnspecifiedMatching MONDO:0020334 mast cell leukemia skos:exactMatch EFO:0007359 semapv:UnspecifiedMatching MONDO:0020334 mast cell leukemia skos:exactMatch MEDGEN:44123 semapv:UnspecifiedMatching MONDO:0020334 mast cell leukemia skos:exactMatch NCIT:C3169 Mast Cell Leukemia semapv:UnspecifiedMatching MONDO:0020334 mast cell leukemia skos:exactMatch Orphanet:98851 Mast cell leukemia semapv:UnspecifiedMatching MONDO:0020334 mast cell leukemia skos:exactMatch SCTID:110002002 semapv:UnspecifiedMatching MONDO:0020334 mast cell leukemia skos:exactMatch UMLS:C0023461 semapv:UnspecifiedMatching MONDO:0020334 mast cell leukemia skos:exactMatch icd11.foundation:1359806843 Mast cell leukaemia semapv:UnspecifiedMatching MONDO:0020334 mast cell leukemia skos:exactMatch mesh:D007946 semapv:UnspecifiedMatching MONDO:0020336 autosomal dominant Emery-Dreifuss muscular dystrophy skos:exactMatch Orphanet:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy semapv:UnspecifiedMatching MONDO:0020336 autosomal dominant Emery-Dreifuss muscular dystrophy skos:exactMatch icd11.foundation:15480497 Emery-Dreifuss muscular dystrophy, autosomal dominant semapv:UnspecifiedMatching MONDO:0020337 congenital dyserythropoietic anemia type 1 skos:exactMatch DOID:0111396 congenital dyserythropoietic anemia type I semapv:UnspecifiedMatching MONDO:0020337 congenital dyserythropoietic anemia type 1 skos:exactMatch MEDGEN:82891 semapv:UnspecifiedMatching MONDO:0020337 congenital dyserythropoietic anemia type 1 skos:exactMatch Orphanet:98869 Congenital dyserythropoietic anemia type I semapv:UnspecifiedMatching MONDO:0020337 congenital dyserythropoietic anemia type 1 skos:exactMatch SCTID:59548005 semapv:UnspecifiedMatching MONDO:0020337 congenital dyserythropoietic anemia type 1 skos:exactMatch UMLS:C0271933 semapv:UnspecifiedMatching MONDO:0020338 adult pure red cell aplasia skos:exactMatch MEDGEN:1647585 semapv:UnspecifiedMatching MONDO:0020338 adult pure red cell aplasia skos:exactMatch NCIT:C70548 Acquired Pure Red Cell Aplasia semapv:UnspecifiedMatching MONDO:0020338 adult pure red cell aplasia skos:exactMatch Orphanet:98872 Primary acquired pure red cell aplasia semapv:UnspecifiedMatching MONDO:0020338 adult pure red cell aplasia skos:exactMatch SCTID:765748009 semapv:UnspecifiedMatching MONDO:0020338 adult pure red cell aplasia skos:exactMatch UMLS:C4707560 semapv:UnspecifiedMatching MONDO:0020338 adult pure red cell aplasia skos:exactMatch icd11.foundation:45753120 Acquired pure red cell aplasia semapv:UnspecifiedMatching MONDO:0020339 obsolete X-linked complex spastic paraplegia skos:exactMatch Orphanet:98888 X-linked complex spastic paraplegia semapv:UnspecifiedMatching MONDO:0020340 bilateral perisylvian polymicrogyria skos:exactMatch DOID:0080924 complex cortical dysplasia with other brain malformations 14B semapv:UnspecifiedMatching MONDO:0020340 bilateral perisylvian polymicrogyria skos:exactMatch MEDGEN:337000 semapv:UnspecifiedMatching MONDO:0020340 bilateral perisylvian polymicrogyria skos:exactMatch Orphanet:98889 Bilateral perisylvian polymicrogyria semapv:UnspecifiedMatching MONDO:0020340 bilateral perisylvian polymicrogyria skos:exactMatch UMLS:C1845668 semapv:UnspecifiedMatching MONDO:0020340 bilateral perisylvian polymicrogyria skos:exactMatch icd11.foundation:1882677643 Bilateral perisylvian polymicrogyria semapv:UnspecifiedMatching MONDO:0020341 periventricular nodular heterotopia skos:exactMatch DOID:0050454 periventricular nodular heterotopia semapv:UnspecifiedMatching MONDO:0020341 periventricular nodular heterotopia skos:exactMatch MEDGEN:358387 semapv:UnspecifiedMatching MONDO:0020341 periventricular nodular heterotopia skos:exactMatch OMIMPS:300049 Periventricular nodular heterotopia semapv:UnspecifiedMatching MONDO:0020341 periventricular nodular heterotopia skos:exactMatch Orphanet:98892 Periventricular nodular heterotopia semapv:UnspecifiedMatching MONDO:0020341 periventricular nodular heterotopia skos:exactMatch UMLS:C1868720 semapv:UnspecifiedMatching MONDO:0020341 periventricular nodular heterotopia skos:exactMatch icd11.foundation:20200096 Periventricular nodular heterotopia semapv:UnspecifiedMatching MONDO:0020341 periventricular nodular heterotopia skos:exactMatch mesh:D054091 semapv:UnspecifiedMatching MONDO:0020343 obsolete alpha-crystallinopathy skos:exactMatch Orphanet:98910 Alpha-crystallinopathy semapv:UnspecifiedMatching MONDO:0020344 postsynaptic congenital myasthenic syndrome skos:exactMatch MEDGEN:199758 semapv:UnspecifiedMatching MONDO:0020344 postsynaptic congenital myasthenic syndrome skos:exactMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:UnspecifiedMatching MONDO:0020344 postsynaptic congenital myasthenic syndrome skos:exactMatch UMLS:C0751883 semapv:UnspecifiedMatching MONDO:0020347 acute inflammatory demyelinating polyradiculoneuropathy skos:exactMatch MEDGEN:1648220 semapv:UnspecifiedMatching MONDO:0020347 acute inflammatory demyelinating polyradiculoneuropathy skos:exactMatch NCIT:C116926 Acute Inflammatory Demyelinating Polyradiculoneuropathy semapv:UnspecifiedMatching MONDO:0020347 acute inflammatory demyelinating polyradiculoneuropathy skos:exactMatch Orphanet:98916 Acute inflammatory demyelinating polyradiculoneuropathy semapv:UnspecifiedMatching MONDO:0020347 acute inflammatory demyelinating polyradiculoneuropathy skos:exactMatch UMLS:C4551910 semapv:UnspecifiedMatching MONDO:0020347 acute inflammatory demyelinating polyradiculoneuropathy skos:exactMatch icd11.foundation:1196874419 Acute inflammatory demyelinating polyneuropathy semapv:UnspecifiedMatching MONDO:0020348 acute motor and sensory axonal neuropathy skos:exactMatch MEDGEN:859705 semapv:UnspecifiedMatching MONDO:0020348 acute motor and sensory axonal neuropathy skos:exactMatch NCIT:C116927 Acute Motor and Sensory Axonal Neuropathy semapv:UnspecifiedMatching MONDO:0020348 acute motor and sensory axonal neuropathy skos:exactMatch Orphanet:98917 Acute motor and sensory axonal neuropathy semapv:UnspecifiedMatching MONDO:0020348 acute motor and sensory axonal neuropathy skos:exactMatch SCTID:716722005 semapv:UnspecifiedMatching MONDO:0020348 acute motor and sensory axonal neuropathy skos:exactMatch UMLS:C3900111 semapv:UnspecifiedMatching MONDO:0020349 acute motor axonal neuropathy skos:exactMatch MEDGEN:855842 semapv:UnspecifiedMatching MONDO:0020349 acute motor axonal neuropathy skos:exactMatch NCIT:C116929 Acute Motor Axonal Neuropathy semapv:UnspecifiedMatching MONDO:0020349 acute motor axonal neuropathy skos:exactMatch Orphanet:98918 Acute motor axonal neuropathy semapv:UnspecifiedMatching MONDO:0020349 acute motor axonal neuropathy skos:exactMatch SCTID:715770009 semapv:UnspecifiedMatching MONDO:0020349 acute motor axonal neuropathy skos:exactMatch UMLS:C3890941 semapv:UnspecifiedMatching MONDO:0020349 acute motor axonal neuropathy skos:exactMatch icd11.foundation:745197078 Acute motor axonal neuropathy semapv:UnspecifiedMatching MONDO:0020351 Blake pouch cyst skos:exactMatch MEDGEN:783279 semapv:UnspecifiedMatching MONDO:0020351 Blake pouch cyst skos:exactMatch Orphanet:98922 Blake pouch cyst semapv:UnspecifiedMatching MONDO:0020351 Blake pouch cyst skos:exactMatch UMLS:C3662124 semapv:UnspecifiedMatching MONDO:0020352 multiple system atrophy, parkinsonian type skos:exactMatch MEDGEN:1842393 semapv:UnspecifiedMatching MONDO:0020352 multiple system atrophy, parkinsonian type skos:exactMatch Orphanet:98933 Multiple system atrophy, parkinsonian type semapv:UnspecifiedMatching MONDO:0020352 multiple system atrophy, parkinsonian type skos:exactMatch UMLS:C5554235 semapv:UnspecifiedMatching MONDO:0020352 multiple system atrophy, parkinsonian type skos:exactMatch icd11.foundation:296753000 Multiple system atrophy, Parkinsonism semapv:UnspecifiedMatching MONDO:0020353 von Hippel anomaly skos:exactMatch icd11.foundation:1620371681 Von Hippel anomaly semapv:UnspecifiedMatching MONDO:0020354 coloboma of choroid and retina skos:exactMatch MEDGEN:1643994 semapv:UnspecifiedMatching MONDO:0020354 coloboma of choroid and retina skos:exactMatch Orphanet:98942 Coloboma of choroid and retina semapv:UnspecifiedMatching MONDO:0020354 coloboma of choroid and retina skos:exactMatch SCTID:39302008 semapv:UnspecifiedMatching MONDO:0020354 coloboma of choroid and retina skos:exactMatch UMLS:C4708599 semapv:UnspecifiedMatching MONDO:0020354 coloboma of choroid and retina skos:exactMatch icd11.foundation:20223105 Coloboma of choroid or retina semapv:UnspecifiedMatching MONDO:0020355 coloboma of eye lens skos:exactMatch MEDGEN:451043 semapv:UnspecifiedMatching MONDO:0020355 coloboma of eye lens skos:exactMatch Orphanet:98943 Coloboma of eye lens semapv:UnspecifiedMatching MONDO:0020355 coloboma of eye lens skos:exactMatch UMLS:C0344516 semapv:UnspecifiedMatching MONDO:0020355 coloboma of eye lens skos:exactMatch icd11.foundation:1368271881 Coloboma of lens semapv:UnspecifiedMatching MONDO:0020356 coloboma of iris skos:exactMatch ICD10CM:Q13.0 Coloboma of iris semapv:UnspecifiedMatching MONDO:0020356 coloboma of iris skos:exactMatch MEDGEN:116097 semapv:UnspecifiedMatching MONDO:0020356 coloboma of iris skos:exactMatch NCIT:C98879 Coloboma of the Iris semapv:UnspecifiedMatching MONDO:0020356 coloboma of iris skos:exactMatch Orphanet:98944 Coloboma of iris semapv:UnspecifiedMatching MONDO:0020356 coloboma of iris skos:exactMatch SCTID:9446007 semapv:UnspecifiedMatching MONDO:0020356 coloboma of iris skos:exactMatch UMLS:C0240063 semapv:UnspecifiedMatching MONDO:0020356 coloboma of iris skos:exactMatch icd11.foundation:1552972259 Coloboma of iris semapv:UnspecifiedMatching MONDO:0020357 coloboma of eyelid skos:exactMatch MEDGEN:141737 semapv:UnspecifiedMatching MONDO:0020357 coloboma of eyelid skos:exactMatch NCIT:C98878 Coloboma of the Eyelid semapv:UnspecifiedMatching MONDO:0020357 coloboma of eyelid skos:exactMatch Orphanet:98946 Coloboma of eyelid semapv:UnspecifiedMatching MONDO:0020357 coloboma of eyelid skos:exactMatch SCTID:95202004 semapv:UnspecifiedMatching MONDO:0020357 coloboma of eyelid skos:exactMatch UMLS:C0521573 semapv:UnspecifiedMatching MONDO:0020357 coloboma of eyelid skos:exactMatch icd11.foundation:684436925 Palpebral cleft or coloboma semapv:UnspecifiedMatching MONDO:0020359 congenital symblepharon skos:exactMatch DOID:0111720 congenital symblepharon semapv:UnspecifiedMatching MONDO:0020359 congenital symblepharon skos:exactMatch MEDGEN:509041 semapv:UnspecifiedMatching MONDO:0020359 congenital symblepharon skos:exactMatch Orphanet:98948 Congenital symblepharon semapv:UnspecifiedMatching MONDO:0020359 congenital symblepharon skos:exactMatch UMLS:C0152454 semapv:UnspecifiedMatching MONDO:0020359 congenital symblepharon skos:exactMatch icd11.foundation:1595154985 Congenital symblepharon semapv:UnspecifiedMatching MONDO:0020360 complete cryptophthalmia skos:exactMatch DOID:0111719 complete cryptophthalmia semapv:UnspecifiedMatching MONDO:0020360 complete cryptophthalmia skos:exactMatch MEDGEN:1773866 semapv:UnspecifiedMatching MONDO:0020360 complete cryptophthalmia skos:exactMatch Orphanet:98949 Complete cryptophthalmia semapv:UnspecifiedMatching MONDO:0020360 complete cryptophthalmia skos:exactMatch UMLS:C5437887 semapv:UnspecifiedMatching MONDO:0020360 complete cryptophthalmia skos:exactMatch icd11.foundation:162797488 Complete cryptophthalmia semapv:UnspecifiedMatching MONDO:0020361 partial cryptophthalmia skos:exactMatch DOID:0111718 partial cryptophthalmia semapv:UnspecifiedMatching MONDO:0020361 partial cryptophthalmia skos:exactMatch MEDGEN:1843099 semapv:UnspecifiedMatching MONDO:0020361 partial cryptophthalmia skos:exactMatch Orphanet:98950 Partial cryptophthalmia semapv:UnspecifiedMatching MONDO:0020361 partial cryptophthalmia skos:exactMatch UMLS:C5681641 semapv:UnspecifiedMatching MONDO:0020361 partial cryptophthalmia skos:exactMatch icd11.foundation:407675981 Partial cryptophthalmia semapv:UnspecifiedMatching MONDO:0020362 inverse Marcus-Gunn phenomenon skos:exactMatch MEDGEN:1784220 semapv:UnspecifiedMatching MONDO:0020362 inverse Marcus-Gunn phenomenon skos:exactMatch Orphanet:98951 Inverse Marcus-Gunn phenomenon semapv:UnspecifiedMatching MONDO:0020362 inverse Marcus-Gunn phenomenon skos:exactMatch UMLS:C5548210 semapv:UnspecifiedMatching MONDO:0020362 inverse Marcus-Gunn phenomenon skos:exactMatch icd11.foundation:348052110 Inverse Marcus-Gunn phenomenon semapv:UnspecifiedMatching MONDO:0020363 honey-droplet corneal dystrophy skos:exactMatch MEDGEN:573075 semapv:UnspecifiedMatching MONDO:0020363 honey-droplet corneal dystrophy skos:exactMatch Orphanet:98958 Climatic droplet keratopathy semapv:UnspecifiedMatching MONDO:0020363 honey-droplet corneal dystrophy skos:exactMatch UMLS:C0339300 semapv:UnspecifiedMatching MONDO:0020363 honey-droplet corneal dystrophy skos:exactMatch icd11.foundation:896313309 Honey-droplet corneal dystrophy semapv:UnspecifiedMatching MONDO:0020364 posterior polymorphous corneal dystrophy skos:exactMatch DOID:0060457 posterior polymorphous corneal dystrophy semapv:UnspecifiedMatching MONDO:0020364 posterior polymorphous corneal dystrophy skos:exactMatch MEDGEN:87382 semapv:UnspecifiedMatching MONDO:0020364 posterior polymorphous corneal dystrophy skos:exactMatch OMIMPS:122000 Corneal dystrophy, posterior polymorphous semapv:UnspecifiedMatching MONDO:0020364 posterior polymorphous corneal dystrophy skos:exactMatch Orphanet:98973 Posterior polymorphous corneal dystrophy semapv:UnspecifiedMatching MONDO:0020364 posterior polymorphous corneal dystrophy skos:exactMatch UMLS:C0339284 semapv:UnspecifiedMatching MONDO:0020364 posterior polymorphous corneal dystrophy skos:exactMatch icd11.foundation:935421185 Posterior polymorphous corneal dystrophy semapv:UnspecifiedMatching MONDO:0020365 congenital hereditary endothelial dystrophy type I skos:exactMatch MEDGEN:736888 semapv:UnspecifiedMatching MONDO:0020365 congenital hereditary endothelial dystrophy type I skos:exactMatch SCTID:416633008 semapv:UnspecifiedMatching MONDO:0020365 congenital hereditary endothelial dystrophy type I skos:exactMatch UMLS:C1562945 semapv:UnspecifiedMatching MONDO:0020366 congenital glaucoma skos:exactMatch DOID:11212 hydrophthalmos semapv:UnspecifiedMatching MONDO:0020366 congenital glaucoma skos:exactMatch MEDGEN:42532 semapv:UnspecifiedMatching MONDO:0020366 congenital glaucoma skos:exactMatch NCIT:C50648 Congenital Glaucoma semapv:UnspecifiedMatching MONDO:0020366 congenital glaucoma skos:exactMatch SCTID:204113001 semapv:UnspecifiedMatching MONDO:0020366 congenital glaucoma skos:exactMatch UMLS:C0020302 semapv:UnspecifiedMatching MONDO:0020366 congenital glaucoma skos:exactMatch mesh:D006871 semapv:UnspecifiedMatching MONDO:0020367 juvenile open angle glaucoma skos:exactMatch DOID:1068 juvenile glaucoma semapv:UnspecifiedMatching MONDO:0020367 juvenile open angle glaucoma skos:exactMatch MEDGEN:453382 semapv:UnspecifiedMatching MONDO:0020367 juvenile open angle glaucoma skos:exactMatch Orphanet:98977 Juvenile glaucoma semapv:UnspecifiedMatching MONDO:0020367 juvenile open angle glaucoma skos:exactMatch SCTID:71111008 semapv:UnspecifiedMatching MONDO:0020367 juvenile open angle glaucoma skos:exactMatch UMLS:C2981140 semapv:UnspecifiedMatching MONDO:0020368 Axenfeld anomaly skos:exactMatch MEDGEN:78611 semapv:UnspecifiedMatching MONDO:0020368 Axenfeld anomaly skos:exactMatch Orphanet:98978 Axenfeld anomaly semapv:UnspecifiedMatching MONDO:0020368 Axenfeld anomaly skos:exactMatch SCTID:204152008 semapv:UnspecifiedMatching MONDO:0020368 Axenfeld anomaly skos:exactMatch UMLS:C0266548 semapv:UnspecifiedMatching MONDO:0020368 Axenfeld anomaly skos:exactMatch icd11.foundation:1703498511 Axenfeld anomaly semapv:UnspecifiedMatching MONDO:0020369 Chandler syndrome skos:exactMatch DOID:11554 Chandler syndrome semapv:UnspecifiedMatching MONDO:0020369 Chandler syndrome skos:exactMatch MEDGEN:107777 semapv:UnspecifiedMatching MONDO:0020369 Chandler syndrome skos:exactMatch Orphanet:98979 Chandler syndrome semapv:UnspecifiedMatching MONDO:0020369 Chandler syndrome skos:exactMatch UMLS:C0544008 semapv:UnspecifiedMatching MONDO:0020369 Chandler syndrome skos:exactMatch icd11.foundation:806443940 Chandler syndrome semapv:UnspecifiedMatching MONDO:0020370 Cogan-Reese syndrome skos:exactMatch DOID:0060217 Cogan-Reese syndrome semapv:UnspecifiedMatching MONDO:0020370 Cogan-Reese syndrome skos:exactMatch MEDGEN:218910 semapv:UnspecifiedMatching MONDO:0020370 Cogan-Reese syndrome skos:exactMatch NCIT:C84644 Cogan-Reese Syndrome semapv:UnspecifiedMatching MONDO:0020370 Cogan-Reese syndrome skos:exactMatch Orphanet:98980 Cogan-Reese syndrome semapv:UnspecifiedMatching MONDO:0020370 Cogan-Reese syndrome skos:exactMatch SCTID:404633004 semapv:UnspecifiedMatching MONDO:0020370 Cogan-Reese syndrome skos:exactMatch UMLS:C1168173 semapv:UnspecifiedMatching MONDO:0020370 Cogan-Reese syndrome skos:exactMatch icd11.foundation:1968906450 Cogan-Reese syndrome semapv:UnspecifiedMatching MONDO:0020371 essential iris atrophy skos:exactMatch MEDGEN:543177 semapv:UnspecifiedMatching MONDO:0020371 essential iris atrophy skos:exactMatch Orphanet:98981 Essential iris atrophy semapv:UnspecifiedMatching MONDO:0020371 essential iris atrophy skos:exactMatch SCTID:25913001 semapv:UnspecifiedMatching MONDO:0020371 essential iris atrophy skos:exactMatch UMLS:C0271111 semapv:UnspecifiedMatching MONDO:0020372 early-onset sutural cataract skos:exactMatch Orphanet:98985 Early-onset sutural cataract semapv:UnspecifiedMatching MONDO:0020373 early-onset anterior polar cataract skos:exactMatch MEDGEN:340806 semapv:UnspecifiedMatching MONDO:0020373 early-onset anterior polar cataract skos:exactMatch Orphanet:98988 Early-onset anterior polar cataract semapv:UnspecifiedMatching MONDO:0020373 early-onset anterior polar cataract skos:exactMatch UMLS:C1855179 semapv:UnspecifiedMatching MONDO:0020374 cerulean cataract skos:exactMatch MEDGEN:138007 semapv:UnspecifiedMatching MONDO:0020374 cerulean cataract skos:exactMatch Orphanet:98989 Cerulean cataract semapv:UnspecifiedMatching MONDO:0020374 cerulean cataract skos:exactMatch SCTID:204138006 semapv:UnspecifiedMatching MONDO:0020374 cerulean cataract skos:exactMatch UMLS:C0344523 semapv:UnspecifiedMatching MONDO:0020374 cerulean cataract skos:exactMatch icd11.foundation:1188848969 Cerulean cataract semapv:UnspecifiedMatching MONDO:0020374 cerulean cataract skos:exactMatch mesh:C537955 semapv:UnspecifiedMatching MONDO:0020376 early-onset nuclear cataract skos:exactMatch MEDGEN:1842550 semapv:UnspecifiedMatching MONDO:0020376 early-onset nuclear cataract skos:exactMatch Orphanet:98991 Early-onset nuclear cataract semapv:UnspecifiedMatching MONDO:0020376 early-onset nuclear cataract skos:exactMatch UMLS:C5681644 semapv:UnspecifiedMatching MONDO:0020376 early-onset nuclear cataract skos:exactMatch mesh:C563333 semapv:UnspecifiedMatching MONDO:0020377 early-onset partial cataract skos:exactMatch MEDGEN:1842758 semapv:UnspecifiedMatching MONDO:0020377 early-onset partial cataract skos:exactMatch Orphanet:98992 Early-onset partial cataract semapv:UnspecifiedMatching MONDO:0020377 early-onset partial cataract skos:exactMatch UMLS:C5681643 semapv:UnspecifiedMatching MONDO:0020378 early-onset posterior polar cataract skos:exactMatch MEDGEN:163646 semapv:UnspecifiedMatching MONDO:0020378 early-onset posterior polar cataract skos:exactMatch Orphanet:98993 Early-onset posterior polar cataract semapv:UnspecifiedMatching MONDO:0020378 early-onset posterior polar cataract skos:exactMatch UMLS:C0858617 semapv:UnspecifiedMatching MONDO:0020379 early-onset zonular cataract skos:exactMatch MEDGEN:1842642 semapv:UnspecifiedMatching MONDO:0020379 early-onset zonular cataract skos:exactMatch Orphanet:98995 Early-onset zonular cataract semapv:UnspecifiedMatching MONDO:0020379 early-onset zonular cataract skos:exactMatch UMLS:C5681642 semapv:UnspecifiedMatching MONDO:0020380 autosomal dominant cerebellar ataxia skos:exactMatch DOID:1441 autosomal dominant cerebellar ataxia semapv:UnspecifiedMatching MONDO:0020380 autosomal dominant cerebellar ataxia skos:exactMatch MEDGEN:1684639 semapv:UnspecifiedMatching MONDO:0020380 autosomal dominant cerebellar ataxia skos:exactMatch OMIMPS:164400 Spinocerebellar ataxia semapv:UnspecifiedMatching MONDO:0020380 autosomal dominant cerebellar ataxia skos:exactMatch Orphanet:99 Autosomal dominant cerebellar ataxia semapv:UnspecifiedMatching MONDO:0020380 autosomal dominant cerebellar ataxia skos:exactMatch SCTID:129609000 semapv:UnspecifiedMatching MONDO:0020380 autosomal dominant cerebellar ataxia skos:exactMatch UMLS:C4087347 semapv:UnspecifiedMatching MONDO:0020381 patterned macular dystrophy skos:exactMatch DOID:0060863 patterned macular dystrophy semapv:UnspecifiedMatching MONDO:0020381 patterned macular dystrophy skos:exactMatch OMIMPS:169150 Macular dystrophy, patterned semapv:UnspecifiedMatching MONDO:0020382 multifocal pattern dystrophy simulating fundus flavimaculatus skos:exactMatch MEDGEN:1376850 semapv:UnspecifiedMatching MONDO:0020382 multifocal pattern dystrophy simulating fundus flavimaculatus skos:exactMatch Orphanet:99003 Multifocal pattern dystrophy simulating fundus flavimaculatus semapv:UnspecifiedMatching MONDO:0020382 multifocal pattern dystrophy simulating fundus flavimaculatus skos:exactMatch SCTID:723408004 semapv:UnspecifiedMatching MONDO:0020382 multifocal pattern dystrophy simulating fundus flavimaculatus skos:exactMatch UMLS:C4509881 semapv:UnspecifiedMatching MONDO:0020382 multifocal pattern dystrophy simulating fundus flavimaculatus skos:exactMatch icd11.foundation:1819044742 Multifocal pattern dystrophy simulating fundus flavimaculatus semapv:UnspecifiedMatching MONDO:0020383 fundus pulverulentus skos:exactMatch MEDGEN:1669231 semapv:UnspecifiedMatching MONDO:0020383 fundus pulverulentus skos:exactMatch Orphanet:99004 Fundus pulverulentus semapv:UnspecifiedMatching MONDO:0020383 fundus pulverulentus skos:exactMatch UMLS:C4749286 semapv:UnspecifiedMatching MONDO:0020383 fundus pulverulentus skos:exactMatch icd11.foundation:871251875 Fundus pulverulentus semapv:UnspecifiedMatching MONDO:0020384 Niemann-Pick disease type E skos:exactMatch MEDGEN:82781 semapv:UnspecifiedMatching MONDO:0020384 Niemann-Pick disease type E skos:exactMatch SCTID:73399005 semapv:UnspecifiedMatching MONDO:0020384 Niemann-Pick disease type E skos:exactMatch UMLS:C0268248 semapv:UnspecifiedMatching MONDO:0020385 congenitally uncorrected transposition of the great arteries with coarctation skos:exactMatch MEDGEN:1842891 semapv:UnspecifiedMatching MONDO:0020385 congenitally uncorrected transposition of the great arteries with coarctation skos:exactMatch Orphanet:99042 Congenitally uncorrected transposition of the great arteries with coarctation semapv:UnspecifiedMatching MONDO:0020385 congenitally uncorrected transposition of the great arteries with coarctation skos:exactMatch UMLS:C5680321 semapv:UnspecifiedMatching MONDO:0020386 double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis skos:exactMatch Orphanet:99043 Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis semapv:UnspecifiedMatching MONDO:0020386 double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis skos:exactMatch SCTID:253298003 semapv:UnspecifiedMatching MONDO:0020387 double outlet right ventricle with subpulmonary ventricular septal defect skos:exactMatch MEDGEN:365502 semapv:UnspecifiedMatching MONDO:0020387 double outlet right ventricle with subpulmonary ventricular septal defect skos:exactMatch Orphanet:99045 Double outlet right ventricle with subpulmonary ventricular septal defect semapv:UnspecifiedMatching MONDO:0020387 double outlet right ventricle with subpulmonary ventricular septal defect skos:exactMatch SCTID:448794008 semapv:UnspecifiedMatching MONDO:0020387 double outlet right ventricle with subpulmonary ventricular septal defect skos:exactMatch UMLS:C1956412 semapv:UnspecifiedMatching MONDO:0020387 double outlet right ventricle with subpulmonary ventricular septal defect skos:exactMatch icd11.foundation:1963185163 Double outlet right ventricle with subpulmonary ventricular septal defect, transposition type semapv:UnspecifiedMatching MONDO:0020388 double outlet right ventricle with non-committed subpulmonary ventricular septal defect skos:exactMatch MEDGEN:365501 semapv:UnspecifiedMatching MONDO:0020388 double outlet right ventricle with non-committed subpulmonary ventricular septal defect skos:exactMatch Orphanet:99046 Double outlet right ventricle with non-committed subpulmonary ventricular septal defect semapv:UnspecifiedMatching MONDO:0020388 double outlet right ventricle with non-committed subpulmonary ventricular septal defect skos:exactMatch UMLS:C1956410 semapv:UnspecifiedMatching MONDO:0020388 double outlet right ventricle with non-committed subpulmonary ventricular septal defect skos:exactMatch icd11.foundation:2032277111 Double outlet right ventricle with non-committed ventricular septal defect semapv:UnspecifiedMatching MONDO:0020389 pulmonary valve agenesis-ventricular septal defect-persistent ductus arteriosus syndrome skos:exactMatch MEDGEN:1678560 semapv:UnspecifiedMatching MONDO:0020389 pulmonary valve agenesis-ventricular septal defect-persistent ductus arteriosus syndrome skos:exactMatch Orphanet:99048 Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome semapv:UnspecifiedMatching MONDO:0020389 pulmonary valve agenesis-ventricular septal defect-persistent ductus arteriosus syndrome skos:exactMatch UMLS:C5191313 semapv:UnspecifiedMatching MONDO:0020390 pulmonary artery coming from patent ductus arteriosus skos:exactMatch MEDGEN:756326 semapv:UnspecifiedMatching MONDO:0020390 pulmonary artery coming from patent ductus arteriosus skos:exactMatch Orphanet:99049 Pulmonary artery coming from patent ductus arteriosus semapv:UnspecifiedMatching MONDO:0020390 pulmonary artery coming from patent ductus arteriosus skos:exactMatch UMLS:C3163916 semapv:UnspecifiedMatching MONDO:0020391 pulmonary artery coming from the aorta skos:exactMatch MEDGEN:824773 semapv:UnspecifiedMatching MONDO:0020391 pulmonary artery coming from the aorta skos:exactMatch Orphanet:99050 Abnormal origin of right or left pulmonary artery from the aorta semapv:UnspecifiedMatching MONDO:0020391 pulmonary artery coming from the aorta skos:exactMatch UMLS:C3838927 semapv:UnspecifiedMatching MONDO:0020392 obsolete discrete fixed membranous subaortic stenosis skos:exactMatch Orphanet:99051 Discrete fixed membranous subaortic stenosis semapv:UnspecifiedMatching MONDO:0020393 discrete fibromuscular subaortic stenosis skos:exactMatch MEDGEN:1842794 semapv:UnspecifiedMatching MONDO:0020393 discrete fibromuscular subaortic stenosis skos:exactMatch Orphanet:99052 Discrete fibromuscular subaortic stenosis semapv:UnspecifiedMatching MONDO:0020393 discrete fibromuscular subaortic stenosis skos:exactMatch UMLS:C5681645 semapv:UnspecifiedMatching MONDO:0020394 tunnel subaortic stenosis skos:exactMatch MEDGEN:1842964 semapv:UnspecifiedMatching MONDO:0020394 tunnel subaortic stenosis skos:exactMatch Orphanet:99053 Tunnel subaortic stenosis semapv:UnspecifiedMatching MONDO:0020394 tunnel subaortic stenosis skos:exactMatch UMLS:C5681647 semapv:UnspecifiedMatching MONDO:0020395 valvar pulmonary stenosis skos:exactMatch Orphanet:99054 Valvular pulmonary stenosis semapv:UnspecifiedMatching MONDO:0020396 anomaly of the tricuspid valve chordae skos:exactMatch MEDGEN:757566 semapv:UnspecifiedMatching MONDO:0020396 anomaly of the tricuspid valve chordae skos:exactMatch Orphanet:99055 Congenital anomaly of the tricuspid valve chordae semapv:UnspecifiedMatching MONDO:0020396 anomaly of the tricuspid valve chordae skos:exactMatch UMLS:C3165162 semapv:UnspecifiedMatching MONDO:0020397 parachute tricuspid valve skos:exactMatch MEDGEN:576478 semapv:UnspecifiedMatching MONDO:0020397 parachute tricuspid valve skos:exactMatch Orphanet:99056 Parachute tricuspid valve semapv:UnspecifiedMatching MONDO:0020397 parachute tricuspid valve skos:exactMatch UMLS:C0344755 semapv:UnspecifiedMatching MONDO:0020398 congenital mitral stenosis skos:exactMatch ICD10CM:Q23.2 Congenital mitral stenosis semapv:UnspecifiedMatching MONDO:0020398 congenital mitral stenosis skos:exactMatch MEDGEN:57857 semapv:UnspecifiedMatching MONDO:0020398 congenital mitral stenosis skos:exactMatch Orphanet:99057 Congenital mitral stenosis semapv:UnspecifiedMatching MONDO:0020398 congenital mitral stenosis skos:exactMatch SCTID:82458004 semapv:UnspecifiedMatching MONDO:0020398 congenital mitral stenosis skos:exactMatch UMLS:C0158618 semapv:UnspecifiedMatching MONDO:0020398 congenital mitral stenosis skos:exactMatch icd11.foundation:2102952411 Congenital mitral valvar stenosis semapv:UnspecifiedMatching MONDO:0020399 congenital hypoplasia of the mitral valve annulus skos:exactMatch MEDGEN:757607 semapv:UnspecifiedMatching MONDO:0020399 congenital hypoplasia of the mitral valve annulus skos:exactMatch Orphanet:99058 Hypoplasia of the mitral valve annulus semapv:UnspecifiedMatching MONDO:0020399 congenital hypoplasia of the mitral valve annulus skos:exactMatch SCTID:449270002 semapv:UnspecifiedMatching MONDO:0020399 congenital hypoplasia of the mitral valve annulus skos:exactMatch UMLS:C3165203 semapv:UnspecifiedMatching MONDO:0020400 congenital supravalvular mitral ring skos:exactMatch MEDGEN:539536 semapv:UnspecifiedMatching MONDO:0020400 congenital supravalvular mitral ring skos:exactMatch Orphanet:99059 Congenital supravalvular mitral ring semapv:UnspecifiedMatching MONDO:0020400 congenital supravalvular mitral ring skos:exactMatch UMLS:C0265851 semapv:UnspecifiedMatching MONDO:0020401 congenital unguarded mitral orifice skos:exactMatch MEDGEN:576490 semapv:UnspecifiedMatching MONDO:0020401 congenital unguarded mitral orifice skos:exactMatch Orphanet:99060 Congenital unguarded mitral orifice semapv:UnspecifiedMatching MONDO:0020401 congenital unguarded mitral orifice skos:exactMatch UMLS:C0344769 semapv:UnspecifiedMatching MONDO:0020401 congenital unguarded mitral orifice skos:exactMatch icd11.foundation:1824064279 Congenital unguarded mitral orifice semapv:UnspecifiedMatching MONDO:0020402 congenital accessory mitral valve tissue skos:exactMatch MEDGEN:576493 semapv:UnspecifiedMatching MONDO:0020402 congenital accessory mitral valve tissue skos:exactMatch Orphanet:99061 Accessory mitral valve tissue semapv:UnspecifiedMatching MONDO:0020402 congenital accessory mitral valve tissue skos:exactMatch UMLS:C0344774 semapv:UnspecifiedMatching MONDO:0020403 congenital mitral valve agenesis skos:exactMatch MEDGEN:672659 semapv:UnspecifiedMatching MONDO:0020403 congenital mitral valve agenesis skos:exactMatch Orphanet:99062 Mitral valve agenesis semapv:UnspecifiedMatching MONDO:0020403 congenital mitral valve agenesis skos:exactMatch UMLS:C0685721 semapv:UnspecifiedMatching MONDO:0020404 shone complex skos:exactMatch MEDGEN:501135 semapv:UnspecifiedMatching MONDO:0020404 shone complex skos:exactMatch NCIT:C99058 Shone Syndrome semapv:UnspecifiedMatching MONDO:0020404 shone complex skos:exactMatch Orphanet:99063 Shone complex semapv:UnspecifiedMatching MONDO:0020404 shone complex skos:exactMatch SCTID:41371000119100 semapv:UnspecifiedMatching MONDO:0020404 shone complex skos:exactMatch UMLS:C1868705 semapv:UnspecifiedMatching MONDO:0020404 shone complex skos:exactMatch icd11.foundation:295410302 Left heart obstruction at multiple sites semapv:UnspecifiedMatching MONDO:0020405 straddling and/or overriding mitral valve skos:exactMatch MEDGEN:1842816 semapv:UnspecifiedMatching MONDO:0020405 straddling and/or overriding mitral valve skos:exactMatch Orphanet:99064 Straddling and/or overriding mitral valve semapv:UnspecifiedMatching MONDO:0020405 straddling and/or overriding mitral valve skos:exactMatch UMLS:C5681625 semapv:UnspecifiedMatching MONDO:0020407 complete atrioventricular canal-ventricle hypoplasia syndrome skos:exactMatch MEDGEN:1842918 semapv:UnspecifiedMatching MONDO:0020407 complete atrioventricular canal-ventricle hypoplasia syndrome skos:exactMatch Orphanet:99067 Complete atrioventricular septal defect with ventricular hypoplasia semapv:UnspecifiedMatching MONDO:0020407 complete atrioventricular canal-ventricle hypoplasia syndrome skos:exactMatch UMLS:C5680290 semapv:UnspecifiedMatching MONDO:0020408 complete atrioventricular canal-tetralogy of fallot syndrome skos:exactMatch MEDGEN:768726 semapv:UnspecifiedMatching MONDO:0020408 complete atrioventricular canal-tetralogy of fallot syndrome skos:exactMatch Orphanet:99068 Complete atrioventricular septal defect-tetralogy of Fallot semapv:UnspecifiedMatching MONDO:0020408 complete atrioventricular canal-tetralogy of fallot syndrome skos:exactMatch UMLS:C3640086 semapv:UnspecifiedMatching MONDO:0020410 aorto-right ventricular tunnel skos:exactMatch MEDGEN:576720 semapv:UnspecifiedMatching MONDO:0020410 aorto-right ventricular tunnel skos:exactMatch Orphanet:99070 Aorto-right ventricular tunnel semapv:UnspecifiedMatching MONDO:0020410 aorto-right ventricular tunnel skos:exactMatch UMLS:C0345055 semapv:UnspecifiedMatching MONDO:0020410 aorto-right ventricular tunnel skos:exactMatch icd11.foundation:1166626076 Aorto-right ventricular tunnel semapv:UnspecifiedMatching MONDO:0020411 aorto-left ventricular tunnel skos:exactMatch MEDGEN:576719 semapv:UnspecifiedMatching MONDO:0020411 aorto-left ventricular tunnel skos:exactMatch Orphanet:99071 Aorto-left ventricular tunnel semapv:UnspecifiedMatching MONDO:0020411 aorto-left ventricular tunnel skos:exactMatch UMLS:C0345054 semapv:UnspecifiedMatching MONDO:0020411 aorto-left ventricular tunnel skos:exactMatch icd11.foundation:1781288740 Aorto-left ventricular tunnel semapv:UnspecifiedMatching MONDO:0020412 congenital patent ductus arteriosus aneurysm skos:exactMatch MEDGEN:1646456 semapv:UnspecifiedMatching MONDO:0020412 congenital patent ductus arteriosus aneurysm skos:exactMatch Orphanet:99072 Congenital patent ductus arteriosus aneurysm semapv:UnspecifiedMatching MONDO:0020412 congenital patent ductus arteriosus aneurysm skos:exactMatch SCTID:763316006 semapv:UnspecifiedMatching MONDO:0020412 congenital patent ductus arteriosus aneurysm skos:exactMatch UMLS:C4706391 semapv:UnspecifiedMatching MONDO:0020413 encircling double aortic arch skos:exactMatch MEDGEN:1641325 semapv:UnspecifiedMatching MONDO:0020413 encircling double aortic arch skos:exactMatch Orphanet:99075 Encircling double aortic arch semapv:UnspecifiedMatching MONDO:0020413 encircling double aortic arch skos:exactMatch SCTID:764521002 semapv:UnspecifiedMatching MONDO:0020413 encircling double aortic arch skos:exactMatch UMLS:C4706940 semapv:UnspecifiedMatching MONDO:0020414 persistent fifth aortic arch skos:exactMatch MEDGEN:576728 semapv:UnspecifiedMatching MONDO:0020414 persistent fifth aortic arch skos:exactMatch Orphanet:99076 Persistent fifth aortic arch semapv:UnspecifiedMatching MONDO:0020414 persistent fifth aortic arch skos:exactMatch UMLS:C0345066 semapv:UnspecifiedMatching MONDO:0020414 persistent fifth aortic arch skos:exactMatch icd11.foundation:82536098 Persistent fifth aortic arch semapv:UnspecifiedMatching MONDO:0020415 Kommerell diverticulum skos:exactMatch MEDGEN:488820 semapv:UnspecifiedMatching MONDO:0020415 Kommerell diverticulum skos:exactMatch Orphanet:99077 Kommerell diverticulum semapv:UnspecifiedMatching MONDO:0020415 Kommerell diverticulum skos:exactMatch SCTID:74561007 semapv:UnspecifiedMatching MONDO:0020415 Kommerell diverticulum skos:exactMatch UMLS:C0265885 semapv:UnspecifiedMatching MONDO:0020416 Neuhauser anomaly skos:exactMatch MEDGEN:1633982 semapv:UnspecifiedMatching MONDO:0020416 Neuhauser anomaly skos:exactMatch Orphanet:99078 Neuhauser anomaly semapv:UnspecifiedMatching MONDO:0020416 Neuhauser anomaly skos:exactMatch SCTID:766751007 semapv:UnspecifiedMatching MONDO:0020416 Neuhauser anomaly skos:exactMatch UMLS:C4707820 semapv:UnspecifiedMatching MONDO:0020417 right aortic arch skos:exactMatch ICD10CM:Q25.47 Right aortic arch semapv:UnspecifiedMatching MONDO:0020417 right aortic arch skos:exactMatch MEDGEN:48474 semapv:UnspecifiedMatching MONDO:0020417 right aortic arch skos:exactMatch NCIT:C103917 Right Aortic Arch semapv:UnspecifiedMatching MONDO:0020417 right aortic arch skos:exactMatch Orphanet:99081 Right aortic arch semapv:UnspecifiedMatching MONDO:0020417 right aortic arch skos:exactMatch SCTID:111321007 semapv:UnspecifiedMatching MONDO:0020417 right aortic arch skos:exactMatch UMLS:C0035615 semapv:UnspecifiedMatching MONDO:0020417 right aortic arch skos:exactMatch icd11.foundation:769265824 Right aortic arch semapv:UnspecifiedMatching MONDO:0020418 dysphagia lusoria skos:exactMatch MEDGEN:540370 semapv:UnspecifiedMatching MONDO:0020418 dysphagia lusoria skos:exactMatch Orphanet:99082 Dysphagia lusoria semapv:UnspecifiedMatching MONDO:0020418 dysphagia lusoria skos:exactMatch SCTID:231719009 semapv:UnspecifiedMatching MONDO:0020418 dysphagia lusoria skos:exactMatch UMLS:C0267073 semapv:UnspecifiedMatching MONDO:0020419 pulmonary artery hypoplasia skos:exactMatch MEDGEN:75585 semapv:UnspecifiedMatching MONDO:0020419 pulmonary artery hypoplasia skos:exactMatch Orphanet:99083 Pulmonary artery hypoplasia semapv:UnspecifiedMatching MONDO:0020419 pulmonary artery hypoplasia skos:exactMatch SCTID:54682008 semapv:UnspecifiedMatching MONDO:0020419 pulmonary artery hypoplasia skos:exactMatch UMLS:C0265910 semapv:UnspecifiedMatching MONDO:0020420 pulmonary branch stenosis skos:exactMatch MEDGEN:758898 semapv:UnspecifiedMatching MONDO:0020420 pulmonary branch stenosis skos:exactMatch NCIT:C99144 Branch Pulmonary Artery Stenosis semapv:UnspecifiedMatching MONDO:0020420 pulmonary branch stenosis skos:exactMatch Orphanet:99084 Peripheral pulmonary stenosis semapv:UnspecifiedMatching MONDO:0020420 pulmonary branch stenosis skos:exactMatch UMLS:C3531782 semapv:UnspecifiedMatching MONDO:0020421 coronary artery intramyocardial course skos:exactMatch MEDGEN:182684 semapv:UnspecifiedMatching MONDO:0020421 coronary artery intramyocardial course skos:exactMatch UMLS:C0948355 semapv:UnspecifiedMatching MONDO:0020422 aortopulmonary coronary arterial course skos:exactMatch MEDGEN:1668023 semapv:UnspecifiedMatching MONDO:0020422 aortopulmonary coronary arterial course skos:exactMatch UMLS:C4757971 semapv:UnspecifiedMatching MONDO:0020423 stenosis or atrophy of the coronary ostium skos:exactMatch MEDGEN:1842382 semapv:UnspecifiedMatching MONDO:0020423 stenosis or atrophy of the coronary ostium skos:exactMatch Orphanet:99087 Coronary ostial stenosis or atresia semapv:UnspecifiedMatching MONDO:0020423 stenosis or atrophy of the coronary ostium skos:exactMatch UMLS:C5575847 semapv:UnspecifiedMatching MONDO:0020424 intramural coronary arterial course skos:exactMatch MEDGEN:576769 semapv:UnspecifiedMatching MONDO:0020424 intramural coronary arterial course skos:exactMatch UMLS:C0345123 semapv:UnspecifiedMatching MONDO:0020425 abnormal number of coronary ostia skos:exactMatch MEDGEN:1676211 semapv:UnspecifiedMatching MONDO:0020425 abnormal number of coronary ostia skos:exactMatch Orphanet:99089 Abnormal number of coronary ostia semapv:UnspecifiedMatching MONDO:0020425 abnormal number of coronary ostia skos:exactMatch UMLS:C5191081 semapv:UnspecifiedMatching MONDO:0020426 malposition of the coronary ostium skos:exactMatch MEDGEN:759190 semapv:UnspecifiedMatching MONDO:0020426 malposition of the coronary ostium skos:exactMatch Orphanet:99090 Malposition of a coronary ostium semapv:UnspecifiedMatching MONDO:0020426 malposition of the coronary ostium skos:exactMatch UMLS:C3532077 semapv:UnspecifiedMatching MONDO:0020427 Laubry-Pezzi syndrome skos:exactMatch MEDGEN:1643612 semapv:UnspecifiedMatching MONDO:0020427 Laubry-Pezzi syndrome skos:exactMatch Orphanet:99094 Laubry-Pezzi syndrome semapv:UnspecifiedMatching MONDO:0020427 Laubry-Pezzi syndrome skos:exactMatch SCTID:764955006 semapv:UnspecifiedMatching MONDO:0020427 Laubry-Pezzi syndrome skos:exactMatch UMLS:C4707235 semapv:UnspecifiedMatching MONDO:0020428 congenital Gerbode defect skos:exactMatch MEDGEN:576645 semapv:UnspecifiedMatching MONDO:0020428 congenital Gerbode defect skos:exactMatch Orphanet:99095 Congenital Gerbode defect semapv:UnspecifiedMatching MONDO:0020428 congenital Gerbode defect skos:exactMatch SCTID:204312002 semapv:UnspecifiedMatching MONDO:0020428 congenital Gerbode defect skos:exactMatch UMLS:C0344947 semapv:UnspecifiedMatching MONDO:0020428 congenital Gerbode defect skos:exactMatch icd11.foundation:1370033158 Communication between left ventricle and right atrium semapv:UnspecifiedMatching MONDO:0020429 cor triatriatum dexter skos:exactMatch MEDGEN:488867 semapv:UnspecifiedMatching MONDO:0020429 cor triatriatum dexter skos:exactMatch Orphanet:99098 Cor triatriatum dexter semapv:UnspecifiedMatching MONDO:0020429 cor triatriatum dexter skos:exactMatch SCTID:274947007 semapv:UnspecifiedMatching MONDO:0020429 cor triatriatum dexter skos:exactMatch UMLS:C0344697 semapv:UnspecifiedMatching MONDO:0020429 cor triatriatum dexter skos:exactMatch icd11.foundation:294192583 Divided right atrium semapv:UnspecifiedMatching MONDO:0020430 cor triatriatum sinister skos:exactMatch MEDGEN:576445 semapv:UnspecifiedMatching MONDO:0020430 cor triatriatum sinister skos:exactMatch Orphanet:99099 Cor triatriatum sinister semapv:UnspecifiedMatching MONDO:0020430 cor triatriatum sinister skos:exactMatch SCTID:253353007 semapv:UnspecifiedMatching MONDO:0020430 cor triatriatum sinister skos:exactMatch UMLS:C0344712 semapv:UnspecifiedMatching MONDO:0020430 cor triatriatum sinister skos:exactMatch icd11.foundation:90967508 Divided left atrium semapv:UnspecifiedMatching MONDO:0020431 juxtaposition of the atrial appendages skos:exactMatch MEDGEN:712843 semapv:UnspecifiedMatching MONDO:0020431 juxtaposition of the atrial appendages skos:exactMatch Orphanet:99100 Juxtaposition of the atrial appendages semapv:UnspecifiedMatching MONDO:0020431 juxtaposition of the atrial appendages skos:exactMatch UMLS:C1290478 semapv:UnspecifiedMatching MONDO:0020432 ectasia of the right atrial appendage skos:exactMatch MEDGEN:1661316 semapv:UnspecifiedMatching MONDO:0020432 ectasia of the right atrial appendage skos:exactMatch Orphanet:99101 Ectasia of the right atrial appendage semapv:UnspecifiedMatching MONDO:0020432 ectasia of the right atrial appendage skos:exactMatch UMLS:C4749283 semapv:UnspecifiedMatching MONDO:0020433 ectasia of the left appendage skos:exactMatch MEDGEN:1656788 semapv:UnspecifiedMatching MONDO:0020433 ectasia of the left appendage skos:exactMatch Orphanet:99102 Ectasia of the left atrial appendage semapv:UnspecifiedMatching MONDO:0020433 ectasia of the left appendage skos:exactMatch UMLS:C4749282 semapv:UnspecifiedMatching MONDO:0020434 atrial septal defect, ostium secundum type skos:exactMatch MEDGEN:91034 semapv:UnspecifiedMatching MONDO:0020434 atrial septal defect, ostium secundum type skos:exactMatch Orphanet:99103 Atrial septal defect, ostium secundum type semapv:UnspecifiedMatching MONDO:0020434 atrial septal defect, ostium secundum type skos:exactMatch UMLS:C0344724 semapv:UnspecifiedMatching MONDO:0020434 atrial septal defect, ostium secundum type skos:exactMatch icd11.foundation:1875768490 Atrial septal defect within oval fossa semapv:UnspecifiedMatching MONDO:0020435 atrial septal defect, coronary sinus type skos:exactMatch MEDGEN:488986 semapv:UnspecifiedMatching MONDO:0020435 atrial septal defect, coronary sinus type skos:exactMatch Orphanet:99104 Atrial septal defect, coronary sinus type semapv:UnspecifiedMatching MONDO:0020435 atrial septal defect, coronary sinus type skos:exactMatch SCTID:40272001 semapv:UnspecifiedMatching MONDO:0020435 atrial septal defect, coronary sinus type skos:exactMatch UMLS:C2063331 semapv:UnspecifiedMatching MONDO:0020435 atrial septal defect, coronary sinus type skos:exactMatch icd11.foundation:664625334 Interatrial communication through coronary sinus orifice semapv:UnspecifiedMatching MONDO:0020435 atrial septal defect, coronary sinus type skos:exactMatch icd11.foundation:800577917 Unroofed coronary sinus semapv:UnspecifiedMatching MONDO:0020436 atrial septal defect, sinus venosus type skos:exactMatch MEDGEN:138011 semapv:UnspecifiedMatching MONDO:0020436 atrial septal defect, sinus venosus type skos:exactMatch Orphanet:99105 Atrial septal defect, sinus venosus type semapv:UnspecifiedMatching MONDO:0020436 atrial septal defect, sinus venosus type skos:exactMatch SCTID:95268002 semapv:UnspecifiedMatching MONDO:0020436 atrial septal defect, sinus venosus type skos:exactMatch UMLS:C0344730 semapv:UnspecifiedMatching MONDO:0020436 atrial septal defect, sinus venosus type skos:exactMatch icd11.foundation:1930019148 Sinus venosus defect semapv:UnspecifiedMatching MONDO:0020436 atrial septal defect, sinus venosus type skos:exactMatch mesh:C548009 semapv:UnspecifiedMatching MONDO:0020437 atrial septal defect, ostium primum type skos:exactMatch MEDGEN:1825952 semapv:UnspecifiedMatching MONDO:0020437 atrial septal defect, ostium primum type skos:exactMatch Orphanet:99106 Atrial septal defect, ostium primum type semapv:UnspecifiedMatching MONDO:0020437 atrial septal defect, ostium primum type skos:exactMatch SCTID:17718000 semapv:UnspecifiedMatching MONDO:0020437 atrial septal defect, ostium primum type skos:exactMatch UMLS:C5680294 semapv:UnspecifiedMatching MONDO:0020437 atrial septal defect, ostium primum type skos:exactMatch icd11.foundation:1159570489 Atrioventricular septal defect with communication at the atrial level only semapv:UnspecifiedMatching MONDO:0020438 atrial septal aneurysm skos:exactMatch MEDGEN:1384602 semapv:UnspecifiedMatching MONDO:0020438 atrial septal aneurysm skos:exactMatch Orphanet:99107 Atrial septal aneurysm semapv:UnspecifiedMatching MONDO:0020438 atrial septal aneurysm skos:exactMatch SCTID:95440004 semapv:UnspecifiedMatching MONDO:0020438 atrial septal aneurysm skos:exactMatch UMLS:C4476553 semapv:UnspecifiedMatching MONDO:0020438 atrial septal aneurysm skos:exactMatch icd11.foundation:100700036 Aneurysm of the atrial septum semapv:UnspecifiedMatching MONDO:0020439 patent foramen ovale skos:exactMatch DOID:13620 patent foramen ovale semapv:UnspecifiedMatching MONDO:0020439 patent foramen ovale skos:exactMatch MEDGEN:8891 semapv:UnspecifiedMatching MONDO:0020439 patent foramen ovale skos:exactMatch NCIT:C34619 Patent Foramen Ovale semapv:UnspecifiedMatching MONDO:0020439 patent foramen ovale skos:exactMatch UMLS:C0016522 semapv:UnspecifiedMatching MONDO:0020439 patent foramen ovale skos:exactMatch icd11.foundation:1618980674 Patent oval foramen semapv:UnspecifiedMatching MONDO:0020439 patent foramen ovale skos:exactMatch mesh:D054092 semapv:UnspecifiedMatching MONDO:0020440 persistent left superior vena cava connecting to the left-sided atrium skos:exactMatch MEDGEN:1830102 semapv:UnspecifiedMatching MONDO:0020440 persistent left superior vena cava connecting to the left-sided atrium skos:exactMatch Orphanet:99109 Persistent left superior vena cava connecting through coronary sinus to left-sided atrium semapv:UnspecifiedMatching MONDO:0020440 persistent left superior vena cava connecting to the left-sided atrium skos:exactMatch UMLS:C5680293 semapv:UnspecifiedMatching MONDO:0020441 right superior vena cava connecting to left-sided atrium skos:exactMatch MEDGEN:576401 semapv:UnspecifiedMatching MONDO:0020441 right superior vena cava connecting to left-sided atrium skos:exactMatch Orphanet:99110 Right superior vena cava connecting to left-sided atrium semapv:UnspecifiedMatching MONDO:0020441 right superior vena cava connecting to left-sided atrium skos:exactMatch UMLS:C0344658 semapv:UnspecifiedMatching MONDO:0020442 left superior vena cava persisting to left-sided atrium skos:exactMatch MEDGEN:1843013 semapv:UnspecifiedMatching MONDO:0020442 left superior vena cava persisting to left-sided atrium skos:exactMatch Orphanet:99111 Persistent left superior vena cava connecting to the roof of left-sided atrium semapv:UnspecifiedMatching MONDO:0020442 left superior vena cava persisting to left-sided atrium skos:exactMatch SCTID:445436005 semapv:UnspecifiedMatching MONDO:0020442 left superior vena cava persisting to left-sided atrium skos:exactMatch UMLS:C5680292 semapv:UnspecifiedMatching MONDO:0020442 left superior vena cava persisting to left-sided atrium skos:exactMatch icd11.foundation:320170224 Left superior caval vein to left-sided atrium semapv:UnspecifiedMatching MONDO:0020443 absence of innominate vein skos:exactMatch MEDGEN:1640707 semapv:UnspecifiedMatching MONDO:0020443 absence of innominate vein skos:exactMatch Orphanet:99112 Absence of innominate vein semapv:UnspecifiedMatching MONDO:0020443 absence of innominate vein skos:exactMatch UMLS:C4707656 semapv:UnspecifiedMatching MONDO:0020444 subaortic course of innominate vein skos:exactMatch MEDGEN:1637333 semapv:UnspecifiedMatching MONDO:0020444 subaortic course of innominate vein skos:exactMatch Orphanet:99113 Subaortic course of innominate vein semapv:UnspecifiedMatching MONDO:0020444 subaortic course of innominate vein skos:exactMatch SCTID:766756002 semapv:UnspecifiedMatching MONDO:0020444 subaortic course of innominate vein skos:exactMatch UMLS:C4707821 semapv:UnspecifiedMatching MONDO:0020445 agenesis of the superior vena cava skos:exactMatch MEDGEN:539590 semapv:UnspecifiedMatching MONDO:0020445 agenesis of the superior vena cava skos:exactMatch Orphanet:99114 Agenesis of the superior vena cava semapv:UnspecifiedMatching MONDO:0020445 agenesis of the superior vena cava skos:exactMatch SCTID:204464007 semapv:UnspecifiedMatching MONDO:0020445 agenesis of the superior vena cava skos:exactMatch UMLS:C0265929 semapv:UnspecifiedMatching MONDO:0020446 coronary sinus stenosis skos:exactMatch MEDGEN:576420 semapv:UnspecifiedMatching MONDO:0020446 coronary sinus stenosis skos:exactMatch Orphanet:99117 Coronary sinus stenosis semapv:UnspecifiedMatching MONDO:0020446 coronary sinus stenosis skos:exactMatch UMLS:C0344684 semapv:UnspecifiedMatching MONDO:0020447 coronary sinus atresia skos:exactMatch MEDGEN:576419 semapv:UnspecifiedMatching MONDO:0020447 coronary sinus atresia skos:exactMatch Orphanet:99118 Coronary sinus atresia semapv:UnspecifiedMatching MONDO:0020447 coronary sinus atresia skos:exactMatch UMLS:C0344683 semapv:UnspecifiedMatching MONDO:0020448 right inferior vena cava connecting to left-sided atrium skos:exactMatch MEDGEN:756739 semapv:UnspecifiedMatching MONDO:0020448 right inferior vena cava connecting to left-sided atrium skos:exactMatch Orphanet:99119 Right inferior vena cava connecting to left-sided atrium semapv:UnspecifiedMatching MONDO:0020448 right inferior vena cava connecting to left-sided atrium skos:exactMatch UMLS:C3164330 semapv:UnspecifiedMatching MONDO:0020449 persistent eustachian valve skos:exactMatch MEDGEN:1678657 semapv:UnspecifiedMatching MONDO:0020449 persistent eustachian valve skos:exactMatch Orphanet:99120 Persistent eustachian valve semapv:UnspecifiedMatching MONDO:0020449 persistent eustachian valve skos:exactMatch UMLS:C5190784 semapv:UnspecifiedMatching MONDO:0020450 azygos continuation of the inferior vena cava skos:exactMatch MEDGEN:347231 semapv:UnspecifiedMatching MONDO:0020450 azygos continuation of the inferior vena cava skos:exactMatch Orphanet:99121 Azygos continuation of the inferior vena cava semapv:UnspecifiedMatching MONDO:0020450 azygos continuation of the inferior vena cava skos:exactMatch UMLS:C1859772 semapv:UnspecifiedMatching MONDO:0020451 congenital stenosis of the inferior vena cava skos:exactMatch MEDGEN:539594 semapv:UnspecifiedMatching MONDO:0020451 congenital stenosis of the inferior vena cava skos:exactMatch Orphanet:99122 Congenital stenosis of the inferior vena cava semapv:UnspecifiedMatching MONDO:0020451 congenital stenosis of the inferior vena cava skos:exactMatch SCTID:62335009 semapv:UnspecifiedMatching MONDO:0020451 congenital stenosis of the inferior vena cava skos:exactMatch UMLS:C0265934 semapv:UnspecifiedMatching MONDO:0020452 inferior vena cava interruption skos:exactMatch MEDGEN:1806633 semapv:UnspecifiedMatching MONDO:0020452 inferior vena cava interruption skos:exactMatch Orphanet:99123 Inferior vena cava interruption without azygos continuation semapv:UnspecifiedMatching MONDO:0020452 inferior vena cava interruption skos:exactMatch SCTID:93031005 semapv:UnspecifiedMatching MONDO:0020452 inferior vena cava interruption skos:exactMatch UMLS:C5680291 semapv:UnspecifiedMatching MONDO:0020453 congenital partial pulmonary venous return anomaly skos:exactMatch ICD10CM:Q26.3 Partial anomalous pulmonary venous connection semapv:UnspecifiedMatching MONDO:0020453 congenital partial pulmonary venous return anomaly skos:exactMatch MEDGEN:450995 semapv:UnspecifiedMatching MONDO:0020453 congenital partial pulmonary venous return anomaly skos:exactMatch NCIT:C99004 Partial Anomalous Pulmonary Venous Return semapv:UnspecifiedMatching MONDO:0020453 congenital partial pulmonary venous return anomaly skos:exactMatch Orphanet:99124 Congenital partial pulmonary venous return anomaly semapv:UnspecifiedMatching MONDO:0020453 congenital partial pulmonary venous return anomaly skos:exactMatch SCTID:68237008 semapv:UnspecifiedMatching MONDO:0020453 congenital partial pulmonary venous return anomaly skos:exactMatch UMLS:C0158634 semapv:UnspecifiedMatching MONDO:0020453 congenital partial pulmonary venous return anomaly skos:exactMatch icd11.foundation:1041585584 Partial anomalous pulmonary venous connection semapv:UnspecifiedMatching MONDO:0020454 congenital complete agenesis of pericardium skos:exactMatch MEDGEN:576786 semapv:UnspecifiedMatching MONDO:0020454 congenital complete agenesis of pericardium skos:exactMatch Orphanet:99129 Congenital complete agenesis of pericardium semapv:UnspecifiedMatching MONDO:0020454 congenital complete agenesis of pericardium skos:exactMatch UMLS:C0345140 semapv:UnspecifiedMatching MONDO:0020454 congenital complete agenesis of pericardium skos:exactMatch icd11.foundation:1462683633 Complete agenesis of pericardium semapv:UnspecifiedMatching MONDO:0020455 congenital partial agenesis of pericardium skos:exactMatch MEDGEN:576785 semapv:UnspecifiedMatching MONDO:0020455 congenital partial agenesis of pericardium skos:exactMatch Orphanet:99130 Congenital partial agenesis of pericardium semapv:UnspecifiedMatching MONDO:0020455 congenital partial agenesis of pericardium skos:exactMatch UMLS:C0345139 semapv:UnspecifiedMatching MONDO:0020455 congenital partial agenesis of pericardium skos:exactMatch icd11.foundation:1742434564 Partial agenesis of pericardium semapv:UnspecifiedMatching MONDO:0020456 pleuro-pericardial cyst skos:exactMatch MEDGEN:576787 semapv:UnspecifiedMatching MONDO:0020456 pleuro-pericardial cyst skos:exactMatch Orphanet:99131 Pleuro-pericardial cyst semapv:UnspecifiedMatching MONDO:0020456 pleuro-pericardial cyst skos:exactMatch UMLS:C0345141 semapv:UnspecifiedMatching MONDO:0020457 6-phosphogluconate dehydrogenase deficiency skos:exactMatch MEDGEN:1783871 semapv:UnspecifiedMatching MONDO:0020457 6-phosphogluconate dehydrogenase deficiency skos:exactMatch OMIM:619199 6-phosphogluconate dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0020457 6-phosphogluconate dehydrogenase deficiency skos:exactMatch Orphanet:99135 6-phosphogluconate dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0020457 6-phosphogluconate dehydrogenase deficiency skos:exactMatch UMLS:C5543091 semapv:UnspecifiedMatching MONDO:0020458 hemolytic anemia due to erythrocyte adenosine deaminase overproduction skos:exactMatch DOID:0051008 congenital nonspherocytic hemolytic anemia 9 semapv:UnspecifiedMatching MONDO:0020458 hemolytic anemia due to erythrocyte adenosine deaminase overproduction skos:exactMatch MEDGEN:400240 semapv:UnspecifiedMatching MONDO:0020458 hemolytic anemia due to erythrocyte adenosine deaminase overproduction skos:exactMatch OMIM:301083 anemia, congenital, nonspherocytic hemolytic, 9 semapv:UnspecifiedMatching MONDO:0020458 hemolytic anemia due to erythrocyte adenosine deaminase overproduction skos:exactMatch Orphanet:99138 Hemolytic anemia due to erythrocyte adenosine deaminase overproduction semapv:UnspecifiedMatching MONDO:0020458 hemolytic anemia due to erythrocyte adenosine deaminase overproduction skos:exactMatch UMLS:C1863235 semapv:UnspecifiedMatching MONDO:0020458 hemolytic anemia due to erythrocyte adenosine deaminase overproduction skos:exactMatch icd11.foundation:1200845933 Haemolytic anaemia due to adenosine deaminase excess semapv:UnspecifiedMatching MONDO:0020458 hemolytic anemia due to erythrocyte adenosine deaminase overproduction skos:exactMatch mesh:C566314 semapv:UnspecifiedMatching MONDO:0020459 unstable hemoglobin disease skos:exactMatch MEDGEN:82893 semapv:UnspecifiedMatching MONDO:0020459 unstable hemoglobin disease skos:exactMatch Orphanet:99139 Unstable hemoglobin disease semapv:UnspecifiedMatching MONDO:0020459 unstable hemoglobin disease skos:exactMatch SCTID:18273004 semapv:UnspecifiedMatching MONDO:0020459 unstable hemoglobin disease skos:exactMatch UMLS:C0272006 semapv:UnspecifiedMatching MONDO:0020460 acquired von willebrand syndrome skos:exactMatch DOID:0111146 acquired von Willebrand syndrome semapv:UnspecifiedMatching MONDO:0020460 acquired von willebrand syndrome skos:exactMatch MEDGEN:543999 semapv:UnspecifiedMatching MONDO:0020460 acquired von willebrand syndrome skos:exactMatch Orphanet:99147 Acquired von Willebrand syndrome semapv:UnspecifiedMatching MONDO:0020460 acquired von willebrand syndrome skos:exactMatch SCTID:234451005 semapv:UnspecifiedMatching MONDO:0020460 acquired von willebrand syndrome skos:exactMatch UMLS:C0272362 semapv:UnspecifiedMatching MONDO:0020461 epiblepharon skos:exactMatch MEDGEN:488856 semapv:UnspecifiedMatching MONDO:0020461 epiblepharon skos:exactMatch Orphanet:99169 Epiblepharon semapv:UnspecifiedMatching MONDO:0020461 epiblepharon skos:exactMatch SCTID:253212001 semapv:UnspecifiedMatching MONDO:0020461 epiblepharon skos:exactMatch UMLS:C0344503 semapv:UnspecifiedMatching MONDO:0020461 epiblepharon skos:exactMatch icd11.foundation:1757021264 Epiblepharon semapv:UnspecifiedMatching MONDO:0020462 tarsal kink syndrome skos:exactMatch MEDGEN:724510 semapv:UnspecifiedMatching MONDO:0020462 tarsal kink syndrome skos:exactMatch Orphanet:99170 Tarsal kink syndrome semapv:UnspecifiedMatching MONDO:0020462 tarsal kink syndrome skos:exactMatch UMLS:C1303000 semapv:UnspecifiedMatching MONDO:0020463 isolated congenital ectropion skos:exactMatch MEDGEN:1842688 semapv:UnspecifiedMatching MONDO:0020463 isolated congenital ectropion skos:exactMatch Orphanet:99171 Isolated congenital ectropion semapv:UnspecifiedMatching MONDO:0020463 isolated congenital ectropion skos:exactMatch UMLS:C5681630 semapv:UnspecifiedMatching MONDO:0020464 euryblepharon skos:exactMatch MEDGEN:724511 semapv:UnspecifiedMatching MONDO:0020464 euryblepharon skos:exactMatch Orphanet:99172 Euryblepharon semapv:UnspecifiedMatching MONDO:0020464 euryblepharon skos:exactMatch SCTID:400954002 semapv:UnspecifiedMatching MONDO:0020464 euryblepharon skos:exactMatch UMLS:C1303001 semapv:UnspecifiedMatching MONDO:0020464 euryblepharon skos:exactMatch icd11.foundation:2086603843 Euryblepharon semapv:UnspecifiedMatching MONDO:0020465 congenital eyelid retraction skos:exactMatch MEDGEN:894858 semapv:UnspecifiedMatching MONDO:0020465 congenital eyelid retraction skos:exactMatch Orphanet:99176 Congenital eyelid retraction semapv:UnspecifiedMatching MONDO:0020465 congenital eyelid retraction skos:exactMatch SCTID:715769008 semapv:UnspecifiedMatching MONDO:0020465 congenital eyelid retraction skos:exactMatch UMLS:C4274470 semapv:UnspecifiedMatching MONDO:0020465 congenital eyelid retraction skos:exactMatch icd11.foundation:11235593 Congenital eyelid retraction semapv:UnspecifiedMatching MONDO:0020466 monosomy X skos:exactMatch MEDGEN:116607 semapv:UnspecifiedMatching MONDO:0020466 monosomy X skos:exactMatch Orphanet:99226 Monosomy X syndrome semapv:UnspecifiedMatching MONDO:0020466 monosomy X skos:exactMatch SCTID:710008008 semapv:UnspecifiedMatching MONDO:0020466 monosomy X skos:exactMatch UMLS:C0242526 semapv:UnspecifiedMatching MONDO:0020466 monosomy X skos:exactMatch icd11.foundation:95979116 Karyotype 45, X semapv:UnspecifiedMatching MONDO:0020467 mosaic monosomy X skos:exactMatch MEDGEN:873772 semapv:UnspecifiedMatching MONDO:0020467 mosaic monosomy X skos:exactMatch Orphanet:99228 Mosaic monosomy X syndrome semapv:UnspecifiedMatching MONDO:0020467 mosaic monosomy X skos:exactMatch SCTID:710010005 semapv:UnspecifiedMatching MONDO:0020467 mosaic monosomy X skos:exactMatch UMLS:C4040907 semapv:UnspecifiedMatching MONDO:0020468 paternal uniparental disomy of chromosome 13 skos:exactMatch MEDGEN:1653904 semapv:UnspecifiedMatching MONDO:0020468 paternal uniparental disomy of chromosome 13 skos:exactMatch Orphanet:99324 Paternal uniparental disomy of chromosome 13 syndrome semapv:UnspecifiedMatching MONDO:0020468 paternal uniparental disomy of chromosome 13 skos:exactMatch UMLS:C4722326 semapv:UnspecifiedMatching MONDO:0020468 paternal uniparental disomy of chromosome 13 skos:exactMatch icd11.foundation:2090405609 Paternal uniparental disomy of chromosome 13 semapv:UnspecifiedMatching MONDO:0020469 48,XYYY syndrome skos:exactMatch MEDGEN:1371767 semapv:UnspecifiedMatching MONDO:0020469 48,XYYY syndrome skos:exactMatch Orphanet:99329 48,XYYY syndrome semapv:UnspecifiedMatching MONDO:0020469 48,XYYY syndrome skos:exactMatch SCTID:733625003 semapv:UnspecifiedMatching MONDO:0020469 48,XYYY syndrome skos:exactMatch UMLS:C4518082 semapv:UnspecifiedMatching MONDO:0020470 49,XYYYY syndrome skos:exactMatch MEDGEN:1384259 semapv:UnspecifiedMatching MONDO:0020470 49,XYYYY syndrome skos:exactMatch Orphanet:99330 49,XYYYY syndrome semapv:UnspecifiedMatching MONDO:0020470 49,XYYYY syndrome skos:exactMatch SCTID:734028007 semapv:UnspecifiedMatching MONDO:0020470 49,XYYYY syndrome skos:exactMatch UMLS:C4518342 semapv:UnspecifiedMatching MONDO:0020472 Turner syndrome due to structural X chromosome anomalies skos:exactMatch MEDGEN:1842425 semapv:UnspecifiedMatching MONDO:0020472 Turner syndrome due to structural X chromosome anomalies skos:exactMatch Orphanet:99413 Turner syndrome due to structural X chromosome anomalies semapv:UnspecifiedMatching MONDO:0020472 Turner syndrome due to structural X chromosome anomalies skos:exactMatch UMLS:C5681631 semapv:UnspecifiedMatching MONDO:0020473 dappled diaphyseal dysplasia skos:exactMatch MEDGEN:468529 semapv:UnspecifiedMatching MONDO:0020473 dappled diaphyseal dysplasia skos:exactMatch SCTID:389262009 semapv:UnspecifiedMatching MONDO:0020473 dappled diaphyseal dysplasia skos:exactMatch UMLS:C1300227 semapv:UnspecifiedMatching MONDO:0020473 dappled diaphyseal dysplasia skos:exactMatch icd11.foundation:2067032637 Dappled diaphyseal dysplasia semapv:UnspecifiedMatching MONDO:0020474 obsolete cheirospondyloenchondromatosis skos:exactMatch Orphanet:99647 Cheirospondyloenchondromatosis semapv:UnspecifiedMatching MONDO:0020474 obsolete cheirospondyloenchondromatosis skos:exactMatch SCTID:725104005 semapv:UnspecifiedMatching MONDO:0020474 obsolete cheirospondyloenchondromatosis skos:exactMatch icd11.foundation:1707937102 Cheirospondyloenchondromatosis semapv:UnspecifiedMatching MONDO:0020475 dermotrichic syndrome skos:exactMatch MEDGEN:1672480 semapv:UnspecifiedMatching MONDO:0020475 dermotrichic syndrome skos:exactMatch Orphanet:99688 Dermotrichic syndrome semapv:UnspecifiedMatching MONDO:0020475 dermotrichic syndrome skos:exactMatch UMLS:C0795919 semapv:UnspecifiedMatching MONDO:0020476 mesial temporal lobe epilepsy with hippocampal sclerosis skos:exactMatch MEDGEN:1659013 semapv:UnspecifiedMatching MONDO:0020476 mesial temporal lobe epilepsy with hippocampal sclerosis skos:exactMatch Orphanet:99701 Mesial temporal lobe epilepsy with hippocampal sclerosis semapv:UnspecifiedMatching MONDO:0020476 mesial temporal lobe epilepsy with hippocampal sclerosis skos:exactMatch UMLS:C4749367 semapv:UnspecifiedMatching MONDO:0020478 Leber plus disease skos:exactMatch DOID:0111754 Leber plus disease semapv:UnspecifiedMatching MONDO:0020478 Leber plus disease skos:exactMatch MEDGEN:930394 semapv:UnspecifiedMatching MONDO:0020478 Leber plus disease skos:exactMatch Orphanet:99718 Leber plus disease semapv:UnspecifiedMatching MONDO:0020478 Leber plus disease skos:exactMatch SCTID:719430008 semapv:UnspecifiedMatching MONDO:0020478 Leber plus disease skos:exactMatch UMLS:C4304725 semapv:UnspecifiedMatching MONDO:0020479 pituitary gigantism skos:exactMatch MEDGEN:6602 semapv:UnspecifiedMatching MONDO:0020479 pituitary gigantism skos:exactMatch NCIT:C93046 Gigantism semapv:UnspecifiedMatching MONDO:0020479 pituitary gigantism skos:exactMatch Orphanet:99725 Pituitary gigantism semapv:UnspecifiedMatching MONDO:0020479 pituitary gigantism skos:exactMatch SCTID:86073008 semapv:UnspecifiedMatching MONDO:0020479 pituitary gigantism skos:exactMatch UMLS:C0017547 semapv:UnspecifiedMatching MONDO:0020479 pituitary gigantism skos:exactMatch mesh:D005877 semapv:UnspecifiedMatching MONDO:0020480 sulfite oxidase deficiency due to molybdenum cofactor deficiency skos:exactMatch DOID:0111165 molybdenum cofactor deficiency semapv:UnspecifiedMatching MONDO:0020480 sulfite oxidase deficiency due to molybdenum cofactor deficiency skos:exactMatch MEDGEN:75652 semapv:UnspecifiedMatching MONDO:0020480 sulfite oxidase deficiency due to molybdenum cofactor deficiency skos:exactMatch OMIMPS:252150 Molybdenum cofactor deficiency semapv:UnspecifiedMatching MONDO:0020480 sulfite oxidase deficiency due to molybdenum cofactor deficiency skos:exactMatch Orphanet:99732 Sulfite oxidase deficiency due to molybdenum cofactor deficiency semapv:UnspecifiedMatching MONDO:0020480 sulfite oxidase deficiency due to molybdenum cofactor deficiency skos:exactMatch UMLS:C0268119 semapv:UnspecifiedMatching MONDO:0020480 sulfite oxidase deficiency due to molybdenum cofactor deficiency skos:exactMatch icd11.foundation:819219337 Sulfite oxidase deficiency due to molybdenum cofactor deficiency semapv:UnspecifiedMatching MONDO:0020481 myotonia fluctuans skos:exactMatch MEDGEN:156269 semapv:UnspecifiedMatching MONDO:0020481 myotonia fluctuans skos:exactMatch NCIT:C122789 Myotonia Fluctuans semapv:UnspecifiedMatching MONDO:0020481 myotonia fluctuans skos:exactMatch Orphanet:99734 Myotonia fluctuans semapv:UnspecifiedMatching MONDO:0020481 myotonia fluctuans skos:exactMatch SCTID:715788001 semapv:UnspecifiedMatching MONDO:0020481 myotonia fluctuans skos:exactMatch UMLS:C0752355 semapv:UnspecifiedMatching MONDO:0020481 myotonia fluctuans skos:exactMatch icd11.foundation:1294270721 Myotonia fluctuans semapv:UnspecifiedMatching MONDO:0020482 myotonia permanens skos:exactMatch MEDGEN:1845910 semapv:UnspecifiedMatching MONDO:0020482 myotonia permanens skos:exactMatch Orphanet:99735 Myotonia permanens semapv:UnspecifiedMatching MONDO:0020482 myotonia permanens skos:exactMatch SCTID:715789009 semapv:UnspecifiedMatching MONDO:0020482 myotonia permanens skos:exactMatch UMLS:C5848361 semapv:UnspecifiedMatching MONDO:0020482 myotonia permanens skos:exactMatch icd11.foundation:2133644550 Myotonia permanens semapv:UnspecifiedMatching MONDO:0020483 acetazolamide-responsive myotonia skos:exactMatch MEDGEN:902539 semapv:UnspecifiedMatching MONDO:0020483 acetazolamide-responsive myotonia skos:exactMatch Orphanet:99736 Acetazolamide-responsive myotonia semapv:UnspecifiedMatching MONDO:0020483 acetazolamide-responsive myotonia skos:exactMatch SCTID:715793003 semapv:UnspecifiedMatching MONDO:0020483 acetazolamide-responsive myotonia skos:exactMatch UMLS:C4275008 semapv:UnspecifiedMatching MONDO:0020483 acetazolamide-responsive myotonia skos:exactMatch icd11.foundation:1452993937 Acetazolamide-responsive myotonia semapv:UnspecifiedMatching MONDO:0020484 obsolete rare familial disorder with hypertrophic cardiomyopathy skos:exactMatch Orphanet:99739 Rare familial disorder with hypertrophic cardiomyopathy semapv:UnspecifiedMatching MONDO:0020485 King-Denborough syndrome skos:exactMatch MEDGEN:327082 semapv:UnspecifiedMatching MONDO:0020485 King-Denborough syndrome skos:exactMatch OMIM:619542 king-denborough syndrome semapv:UnspecifiedMatching MONDO:0020485 King-Denborough syndrome skos:exactMatch Orphanet:99741 King-Denborough syndrome semapv:UnspecifiedMatching MONDO:0020485 King-Denborough syndrome skos:exactMatch SCTID:764957003 semapv:UnspecifiedMatching MONDO:0020485 King-Denborough syndrome skos:exactMatch UMLS:C1840365 semapv:UnspecifiedMatching MONDO:0020485 King-Denborough syndrome skos:exactMatch mesh:C536883 semapv:UnspecifiedMatching MONDO:0020485 King-Denborough syndrome skos:exactMatch mesh:C537504 semapv:UnspecifiedMatching MONDO:0020487 Pontiac fever skos:exactMatch DOID:0050150 Pontiac fever semapv:UnspecifiedMatching MONDO:0020487 Pontiac fever skos:exactMatch MEDGEN:575661 semapv:UnspecifiedMatching MONDO:0020487 Pontiac fever skos:exactMatch NCIT:C128335 Pontiac Fever semapv:UnspecifiedMatching MONDO:0020487 Pontiac fever skos:exactMatch Orphanet:99748 Pontiac fever semapv:UnspecifiedMatching MONDO:0020487 Pontiac fever skos:exactMatch SCTID:240447002 semapv:UnspecifiedMatching MONDO:0020487 Pontiac fever skos:exactMatch UMLS:C0343528 semapv:UnspecifiedMatching MONDO:0020487 Pontiac fever skos:exactMatch icd11.foundation:1670562980 Nonpneumonic Legionnaires' disease semapv:UnspecifiedMatching MONDO:0020488 atypical progressive supranuclear palsy syndrome skos:exactMatch MEDGEN:1779597 semapv:UnspecifiedMatching MONDO:0020488 atypical progressive supranuclear palsy syndrome skos:exactMatch Orphanet:99750 Atypical progressive supranuclear palsy syndrome semapv:UnspecifiedMatching MONDO:0020488 atypical progressive supranuclear palsy syndrome skos:exactMatch UMLS:C5548371 semapv:UnspecifiedMatching MONDO:0020489 obsolete familial hyperreninemic hypoaldosteronism type 1 skos:exactMatch Orphanet:99763 OBSOLETE: Familial hyperreninemic hypoaldosteronism type 1 semapv:UnspecifiedMatching MONDO:0020490 mosaic trisomy 9 skos:exactMatch MEDGEN:419661 semapv:UnspecifiedMatching MONDO:0020490 mosaic trisomy 9 skos:exactMatch Orphanet:99776 Mosaic trisomy 9 syndrome semapv:UnspecifiedMatching MONDO:0020490 mosaic trisomy 9 skos:exactMatch SCTID:764989007 semapv:UnspecifiedMatching MONDO:0020490 mosaic trisomy 9 skos:exactMatch UMLS:C2930908 semapv:UnspecifiedMatching MONDO:0020490 mosaic trisomy 9 skos:exactMatch mesh:C535454 semapv:UnspecifiedMatching MONDO:0020491 subcortical band heterotopia skos:exactMatch DOID:0111169 subcortical band heterotopia semapv:UnspecifiedMatching MONDO:0020491 subcortical band heterotopia skos:exactMatch MEDGEN:336288 semapv:UnspecifiedMatching MONDO:0020491 subcortical band heterotopia skos:exactMatch NCIT:C116933 Double Cortex Syndrome semapv:UnspecifiedMatching MONDO:0020491 subcortical band heterotopia skos:exactMatch Orphanet:99796 Subcortical band heterotopia semapv:UnspecifiedMatching MONDO:0020491 subcortical band heterotopia skos:exactMatch UMLS:C1848201 semapv:UnspecifiedMatching MONDO:0020491 subcortical band heterotopia skos:exactMatch icd11.foundation:525786944 Subcortical band heterotopia semapv:UnspecifiedMatching MONDO:0020492 hemimegalencephaly skos:exactMatch MEDGEN:140910 semapv:UnspecifiedMatching MONDO:0020492 hemimegalencephaly skos:exactMatch NCIT:C177779 Hemimegalencephaly semapv:UnspecifiedMatching MONDO:0020492 hemimegalencephaly skos:exactMatch Orphanet:99802 Hemimegalencephaly semapv:UnspecifiedMatching MONDO:0020492 hemimegalencephaly skos:exactMatch SCTID:253170008 semapv:UnspecifiedMatching MONDO:0020492 hemimegalencephaly skos:exactMatch UMLS:C0431391 semapv:UnspecifiedMatching MONDO:0020492 hemimegalencephaly skos:exactMatch icd11.foundation:961229160 Hemimegalencephaly semapv:UnspecifiedMatching MONDO:0020492 hemimegalencephaly skos:exactMatch mesh:D065705 semapv:UnspecifiedMatching MONDO:0020493 Haddad syndrome skos:exactMatch MEDGEN:347052 semapv:UnspecifiedMatching MONDO:0020493 Haddad syndrome skos:exactMatch Orphanet:99803 Haddad syndrome semapv:UnspecifiedMatching MONDO:0020493 Haddad syndrome skos:exactMatch SCTID:719972004 semapv:UnspecifiedMatching MONDO:0020493 Haddad syndrome skos:exactMatch UMLS:C1859049 semapv:UnspecifiedMatching MONDO:0020493 Haddad syndrome skos:exactMatch icd11.foundation:1685926536 Haddad syndrome semapv:UnspecifiedMatching MONDO:0020494 oculootodental syndrome skos:exactMatch MEDGEN:413814 semapv:UnspecifiedMatching MONDO:0020494 oculootodental syndrome skos:exactMatch Orphanet:99806 Oculootodental syndrome semapv:UnspecifiedMatching MONDO:0020494 oculootodental syndrome skos:exactMatch UMLS:C2750325 semapv:UnspecifiedMatching MONDO:0020495 PEHO-like syndrome skos:exactMatch MEDGEN:337956 semapv:UnspecifiedMatching MONDO:0020495 PEHO-like syndrome skos:exactMatch OMIM:617507 peho-like syndrome semapv:UnspecifiedMatching MONDO:0020495 PEHO-like syndrome skos:exactMatch Orphanet:99807 PEHO-like syndrome semapv:UnspecifiedMatching MONDO:0020495 PEHO-like syndrome skos:exactMatch UMLS:C1850056 semapv:UnspecifiedMatching MONDO:0020496 familial porencephaly skos:exactMatch DOID:0112313 brain small vessel disease semapv:UnspecifiedMatching MONDO:0020496 familial porencephaly skos:exactMatch MEDGEN:401353 semapv:UnspecifiedMatching MONDO:0020496 familial porencephaly skos:exactMatch OMIMPS:175780 Brain small vessel disease semapv:UnspecifiedMatching MONDO:0020496 familial porencephaly skos:exactMatch Orphanet:99810 Familial porencephaly semapv:UnspecifiedMatching MONDO:0020496 familial porencephaly skos:exactMatch UMLS:C1867983 semapv:UnspecifiedMatching MONDO:0020496 familial porencephaly skos:exactMatch icd11.foundation:1833583032 Familial porencephaly semapv:UnspecifiedMatching MONDO:0020497 Turcot syndrome with polyposis skos:exactMatch NCIT:C40464 Turcot Syndrome Type 2 semapv:UnspecifiedMatching MONDO:0020497 Turcot syndrome with polyposis skos:exactMatch icd11.foundation:813602368 Turcot syndrome with polyposis semapv:UnspecifiedMatching MONDO:0020499 Nipah virus disease skos:exactMatch DOID:0050192 Nipah virus encephalitis semapv:UnspecifiedMatching MONDO:0020499 Nipah virus disease skos:exactMatch MEDGEN:728863 semapv:UnspecifiedMatching MONDO:0020499 Nipah virus disease skos:exactMatch Orphanet:99825 Nipah virus disease semapv:UnspecifiedMatching MONDO:0020499 Nipah virus disease skos:exactMatch UMLS:C1320202 semapv:UnspecifiedMatching MONDO:0020500 Marburg hemorrhagic fever skos:exactMatch DOID:4327 Marburg hemorrhagic fever semapv:UnspecifiedMatching MONDO:0020500 Marburg hemorrhagic fever skos:exactMatch EFO:0007358 semapv:UnspecifiedMatching MONDO:0020500 Marburg hemorrhagic fever skos:exactMatch ICD10CM:A98.3 Marburg virus disease semapv:UnspecifiedMatching MONDO:0020500 Marburg hemorrhagic fever skos:exactMatch MEDGEN:9888 semapv:UnspecifiedMatching MONDO:0020500 Marburg hemorrhagic fever skos:exactMatch NCIT:C84883 Marburg Virus Disease semapv:UnspecifiedMatching MONDO:0020500 Marburg hemorrhagic fever skos:exactMatch Orphanet:99826 Marburg hemorrhagic fever semapv:UnspecifiedMatching MONDO:0020500 Marburg hemorrhagic fever skos:exactMatch SCTID:77503002 semapv:UnspecifiedMatching MONDO:0020500 Marburg hemorrhagic fever skos:exactMatch UMLS:C0024788 semapv:UnspecifiedMatching MONDO:0020500 Marburg hemorrhagic fever skos:exactMatch icd11.foundation:696598707 Marburg disease semapv:UnspecifiedMatching MONDO:0020500 Marburg hemorrhagic fever skos:exactMatch mesh:D008379 semapv:UnspecifiedMatching MONDO:0020501 Crimean-Congo hemorrhagic fever skos:exactMatch DOID:12287 Crimean-Congo hemorrhagic fever semapv:UnspecifiedMatching MONDO:0020501 Crimean-Congo hemorrhagic fever skos:exactMatch ICD10CM:A98.0 Crimean-Congo hemorrhagic fever semapv:UnspecifiedMatching MONDO:0020501 Crimean-Congo hemorrhagic fever skos:exactMatch MEDGEN:6800 semapv:UnspecifiedMatching MONDO:0020501 Crimean-Congo hemorrhagic fever skos:exactMatch NCIT:C34682 Congo-Crimean Hemorrhagic Fever semapv:UnspecifiedMatching MONDO:0020501 Crimean-Congo hemorrhagic fever skos:exactMatch Orphanet:99827 Crimean-Congo hemorrhagic fever semapv:UnspecifiedMatching MONDO:0020501 Crimean-Congo hemorrhagic fever skos:exactMatch SCTID:402919000 semapv:UnspecifiedMatching MONDO:0020501 Crimean-Congo hemorrhagic fever skos:exactMatch UMLS:C0019099 semapv:UnspecifiedMatching MONDO:0020501 Crimean-Congo hemorrhagic fever skos:exactMatch icd11.foundation:1562906700 Crimean-Congo haemorrhagic fever semapv:UnspecifiedMatching MONDO:0020501 Crimean-Congo hemorrhagic fever skos:exactMatch mesh:D006479 semapv:UnspecifiedMatching MONDO:0020502 yellow fever skos:exactMatch DOID:9682 yellow fever semapv:UnspecifiedMatching MONDO:0020502 yellow fever skos:exactMatch ICD10CM:A95 Yellow fever semapv:UnspecifiedMatching MONDO:0020502 yellow fever skos:exactMatch ICD10WHO:A95 Yellow fever semapv:UnspecifiedMatching MONDO:0020502 yellow fever skos:exactMatch MEDGEN:53112 semapv:UnspecifiedMatching MONDO:0020502 yellow fever skos:exactMatch NCIT:C35547 Yellow Fever Virus Infection semapv:UnspecifiedMatching MONDO:0020502 yellow fever skos:exactMatch Orphanet:99829 Yellow fever semapv:UnspecifiedMatching MONDO:0020502 yellow fever skos:exactMatch UMLS:C0043395 semapv:UnspecifiedMatching MONDO:0020502 yellow fever skos:exactMatch icd11.foundation:383352795 Yellow fever semapv:UnspecifiedMatching MONDO:0020502 yellow fever skos:exactMatch mesh:D015004 semapv:UnspecifiedMatching MONDO:0020504 hereditary recurrent myoglobinuria skos:exactMatch MEDGEN:901659 semapv:UnspecifiedMatching MONDO:0020504 hereditary recurrent myoglobinuria skos:exactMatch Orphanet:99845 Genetic recurrent myoglobinuria semapv:UnspecifiedMatching MONDO:0020504 hereditary recurrent myoglobinuria skos:exactMatch SCTID:716721003 semapv:UnspecifiedMatching MONDO:0020504 hereditary recurrent myoglobinuria skos:exactMatch UMLS:C4274324 semapv:UnspecifiedMatching MONDO:0020505 ravine syndrome skos:exactMatch MEDGEN:907744 semapv:UnspecifiedMatching MONDO:0020505 ravine syndrome skos:exactMatch Orphanet:99852 Ravine syndrome semapv:UnspecifiedMatching MONDO:0020505 ravine syndrome skos:exactMatch SCTID:715794009 semapv:UnspecifiedMatching MONDO:0020505 ravine syndrome skos:exactMatch UMLS:C4275006 semapv:UnspecifiedMatching MONDO:0020505 ravine syndrome skos:exactMatch icd11.foundation:451093599 RAVINE syndrome semapv:UnspecifiedMatching MONDO:0020506 obsolete ovarioleukodystrophy skos:exactMatch Orphanet:99853 Ovarioleukodystrophy semapv:UnspecifiedMatching MONDO:0020507 leukoencephalopathy with vanishing white matter 1 skos:exactMatch DOID:0070374 leukoencephalopathy with vanishing white matter 1 semapv:UnspecifiedMatching MONDO:0020507 leukoencephalopathy with vanishing white matter 1 skos:exactMatch MEDGEN:1830482 semapv:UnspecifiedMatching MONDO:0020507 leukoencephalopathy with vanishing white matter 1 skos:exactMatch OMIM:603896 leukoencephalopathy with vanishing white matter 1 semapv:UnspecifiedMatching MONDO:0020507 leukoencephalopathy with vanishing white matter 1 skos:exactMatch Orphanet:99854 Cree leukoencephalopathy semapv:UnspecifiedMatching MONDO:0020507 leukoencephalopathy with vanishing white matter 1 skos:exactMatch UMLS:C5779972 semapv:UnspecifiedMatching MONDO:0020508 primary syringomyelia skos:exactMatch MEDGEN:721465 semapv:UnspecifiedMatching MONDO:0020508 primary syringomyelia skos:exactMatch Orphanet:99856 Primary syringomyelia semapv:UnspecifiedMatching MONDO:0020508 primary syringomyelia skos:exactMatch SCTID:371076006 semapv:UnspecifiedMatching MONDO:0020508 primary syringomyelia skos:exactMatch UMLS:C1299627 semapv:UnspecifiedMatching MONDO:0020508 primary syringomyelia skos:exactMatch icd11.foundation:257905685 Primary syringomyelia semapv:UnspecifiedMatching MONDO:0020509 secondary syringomyelia skos:exactMatch MEDGEN:1649806 semapv:UnspecifiedMatching MONDO:0020509 secondary syringomyelia skos:exactMatch Orphanet:99857 Secondary syringomyelia semapv:UnspecifiedMatching MONDO:0020509 secondary syringomyelia skos:exactMatch UMLS:C4749399 semapv:UnspecifiedMatching MONDO:0020510 idiopathic syringomyelia skos:exactMatch MEDGEN:1378771 semapv:UnspecifiedMatching MONDO:0020510 idiopathic syringomyelia skos:exactMatch Orphanet:99858 Idiopathic syringomyelia semapv:UnspecifiedMatching MONDO:0020510 idiopathic syringomyelia skos:exactMatch SCTID:725001004 semapv:UnspecifiedMatching MONDO:0020510 idiopathic syringomyelia skos:exactMatch UMLS:C4511700 semapv:UnspecifiedMatching MONDO:0020510 idiopathic syringomyelia skos:exactMatch icd11.foundation:1218010255 Idiopathic syringomyelia semapv:UnspecifiedMatching MONDO:0020511 precursor B-cell acute lymphoblastic leukemia skos:exactMatch DOID:0080638 B-cell acute lymphoblastic leukemia semapv:UnspecifiedMatching MONDO:0020511 precursor B-cell acute lymphoblastic leukemia skos:exactMatch MEDGEN:83896 semapv:UnspecifiedMatching MONDO:0020511 precursor B-cell acute lymphoblastic leukemia skos:exactMatch NCIT:C8644 B Acute Lymphoblastic Leukemia semapv:UnspecifiedMatching MONDO:0020511 precursor B-cell acute lymphoblastic leukemia skos:exactMatch Orphanet:99860 Precursor B-cell acute lymphoblastic leukemia semapv:UnspecifiedMatching MONDO:0020511 precursor B-cell acute lymphoblastic leukemia skos:exactMatch UMLS:C0349636 semapv:UnspecifiedMatching MONDO:0020511 precursor B-cell acute lymphoblastic leukemia skos:exactMatch icd11.foundation:1099674056 Precursor B-lymphoblastic neoplasms semapv:UnspecifiedMatching MONDO:0020512 precursor T-cell acute lymphoblastic leukemia skos:exactMatch EFO:1001830 semapv:UnspecifiedMatching MONDO:0020512 precursor T-cell acute lymphoblastic leukemia skos:exactMatch Orphanet:99861 Precursor T-cell acute lymphoblastic leukemia semapv:UnspecifiedMatching MONDO:0020512 precursor T-cell acute lymphoblastic leukemia skos:exactMatch icd11.foundation:803161771 Precursor T-lymphoblastic neoplasms semapv:UnspecifiedMatching MONDO:0020513 spermatocytic seminoma skos:exactMatch DOID:5834 spermatocytoma semapv:UnspecifiedMatching MONDO:0020513 spermatocytic seminoma skos:exactMatch DOID:7891 testicular spermatocytic seminoma semapv:UnspecifiedMatching MONDO:0020513 spermatocytic seminoma skos:exactMatch MEDGEN:83159 semapv:UnspecifiedMatching MONDO:0020513 spermatocytic seminoma skos:exactMatch NCIT:C39921 Testicular Spermatocytic Tumor semapv:UnspecifiedMatching MONDO:0020513 spermatocytic seminoma skos:exactMatch Orphanet:99865 Spermatocytic seminoma semapv:UnspecifiedMatching MONDO:0020513 spermatocytic seminoma skos:exactMatch UMLS:C0334517 semapv:UnspecifiedMatching MONDO:0020516 thymic neuroendocrine carcinoma skos:exactMatch MEDGEN:900590 semapv:UnspecifiedMatching MONDO:0020516 thymic neuroendocrine carcinoma skos:exactMatch NCIT:C171031 Thymus Neuroendocrine Carcinoma semapv:UnspecifiedMatching MONDO:0020516 thymic neuroendocrine carcinoma skos:exactMatch Orphanet:99869 Thymic neuroendocrine carcinoma semapv:UnspecifiedMatching MONDO:0020516 thymic neuroendocrine carcinoma skos:exactMatch SCTID:716653001 semapv:UnspecifiedMatching MONDO:0020516 thymic neuroendocrine carcinoma skos:exactMatch UMLS:C2210965 semapv:UnspecifiedMatching MONDO:0020516 thymic neuroendocrine carcinoma skos:exactMatch icd11.foundation:381956131 Carcinoid tumour or other neuroendocrine neoplasms of thymus semapv:UnspecifiedMatching MONDO:0020517 eosinophilic granuloma skos:exactMatch MEDGEN:4979 semapv:UnspecifiedMatching MONDO:0020517 eosinophilic granuloma skos:exactMatch NCIT:C3016 Eosinophilic Granuloma semapv:UnspecifiedMatching MONDO:0020517 eosinophilic granuloma skos:exactMatch SCTID:129000002 semapv:UnspecifiedMatching MONDO:0020517 eosinophilic granuloma skos:exactMatch UMLS:C0014461 semapv:UnspecifiedMatching MONDO:0020517 eosinophilic granuloma skos:exactMatch icd11.foundation:1377407737 Eosinophilic granuloma semapv:UnspecifiedMatching MONDO:0020517 eosinophilic granuloma skos:exactMatch mesh:D004803 semapv:UnspecifiedMatching MONDO:0020518 Hashimoto-Pritzker syndrome skos:exactMatch MEDGEN:775638 semapv:UnspecifiedMatching MONDO:0020518 Hashimoto-Pritzker syndrome skos:exactMatch SCTID:404160007 semapv:UnspecifiedMatching MONDO:0020518 Hashimoto-Pritzker syndrome skos:exactMatch UMLS:C3661439 semapv:UnspecifiedMatching MONDO:0020518 Hashimoto-Pritzker syndrome skos:exactMatch icd11.foundation:1011705244 Hashimoto-Pritzker syndrome semapv:UnspecifiedMatching MONDO:0020518 Hashimoto-Pritzker syndrome skos:exactMatch mesh:C535843 semapv:UnspecifiedMatching MONDO:0020519 hand-Schuller-Christian disease skos:exactMatch MEDGEN:1804593 semapv:UnspecifiedMatching MONDO:0020519 hand-Schuller-Christian disease skos:exactMatch NCIT:C6920 Hand-Schuller-Christian Disease semapv:UnspecifiedMatching MONDO:0020519 hand-Schuller-Christian disease skos:exactMatch SCTID:39795003 semapv:UnspecifiedMatching MONDO:0020519 hand-Schuller-Christian disease skos:exactMatch UMLS:C5574737 semapv:UnspecifiedMatching MONDO:0020520 adult pulmonary Langerhans cell histiocytosis skos:exactMatch ICD10CM:J84.82 Adult pulmonary Langerhans cell histiocytosis semapv:UnspecifiedMatching MONDO:0020520 adult pulmonary Langerhans cell histiocytosis skos:exactMatch MEDGEN:853967 semapv:UnspecifiedMatching MONDO:0020520 adult pulmonary Langerhans cell histiocytosis skos:exactMatch NCIT:C142833 Pulmonary Langerhans Cell Histiocytosis semapv:UnspecifiedMatching MONDO:0020520 adult pulmonary Langerhans cell histiocytosis skos:exactMatch SCTID:328611000119105 semapv:UnspecifiedMatching MONDO:0020520 adult pulmonary Langerhans cell histiocytosis skos:exactMatch UMLS:C3161104 semapv:UnspecifiedMatching MONDO:0020520 adult pulmonary Langerhans cell histiocytosis skos:exactMatch icd11.foundation:792398738 Adult pulmonary Langerhans cell histiocytosis semapv:UnspecifiedMatching MONDO:0020521 Ehlers-Danlos syndrome type 7A skos:exactMatch MEDGEN:854083 semapv:UnspecifiedMatching MONDO:0020521 Ehlers-Danlos syndrome type 7A skos:exactMatch OMIM:130060 ehlers-danlos syndrome, arthrochalasia type, 1 semapv:UnspecifiedMatching MONDO:0020521 Ehlers-Danlos syndrome type 7A skos:exactMatch UMLS:C3508773 semapv:UnspecifiedMatching MONDO:0020521 Ehlers-Danlos syndrome type 7A skos:exactMatch icd11.foundation:165998215 Ehlers-Danlos syndrome type 7A semapv:UnspecifiedMatching MONDO:0020523 familial parathyroid adenoma skos:exactMatch MEDGEN:374460 semapv:UnspecifiedMatching MONDO:0020523 familial parathyroid adenoma skos:exactMatch UMLS:C1840403 semapv:UnspecifiedMatching MONDO:0020523 familial parathyroid adenoma skos:exactMatch icd11.foundation:55934726 Familial parathyroid adenoma semapv:UnspecifiedMatching MONDO:0020524 obsolete primary parathyroid hyperplasia skos:exactMatch Orphanet:99878 OBSOLETE: Primary parathyroid hyperplasia semapv:UnspecifiedMatching MONDO:0020525 transient neonatal diabetes mellitus skos:exactMatch DOID:0060334 transient neonatal diabetes mellitus semapv:UnspecifiedMatching MONDO:0020525 transient neonatal diabetes mellitus skos:exactMatch MEDGEN:449530 semapv:UnspecifiedMatching MONDO:0020525 transient neonatal diabetes mellitus skos:exactMatch NCIT:C114899 Transient Neonatal Diabetes Mellitus semapv:UnspecifiedMatching MONDO:0020525 transient neonatal diabetes mellitus skos:exactMatch SCTID:237603002 semapv:UnspecifiedMatching MONDO:0020525 transient neonatal diabetes mellitus skos:exactMatch UMLS:C0342273 semapv:UnspecifiedMatching MONDO:0020525 transient neonatal diabetes mellitus skos:exactMatch icd11.foundation:1596856936 Transient neonatal diabetes mellitus semapv:UnspecifiedMatching MONDO:0020526 acute megakaryoblastic leukemia in down syndrome skos:exactMatch MEDGEN:1863778 semapv:UnspecifiedMatching MONDO:0020526 acute megakaryoblastic leukemia in down syndrome skos:exactMatch Orphanet:99887 Acute megakaryoblastic leukemia in children with Down syndrome semapv:UnspecifiedMatching MONDO:0020526 acute megakaryoblastic leukemia in down syndrome skos:exactMatch UMLS:C5925108 semapv:UnspecifiedMatching MONDO:0020527 ectopic Cushing syndrome skos:exactMatch DOID:0060890 ectopic Cushing syndrome semapv:UnspecifiedMatching MONDO:0020527 ectopic Cushing syndrome skos:exactMatch Orphanet:99889 Cushing syndrome due to ectopic ACTH secretion semapv:UnspecifiedMatching MONDO:0020527 ectopic Cushing syndrome skos:exactMatch icd11.foundation:1646144829 Ectopic ACTH syndrome semapv:UnspecifiedMatching MONDO:0020528 ACTH-dependent Cushing syndrome skos:exactMatch DOID:3946 pituitary-dependent Cushing's disease semapv:UnspecifiedMatching MONDO:0020528 ACTH-dependent Cushing syndrome skos:exactMatch EFO:1001110 semapv:UnspecifiedMatching MONDO:0020528 ACTH-dependent Cushing syndrome skos:exactMatch ICD10CM:E24.0 Pituitary-dependent Cushing's disease semapv:UnspecifiedMatching MONDO:0020528 ACTH-dependent Cushing syndrome skos:exactMatch MEDGEN:575036 semapv:UnspecifiedMatching MONDO:0020528 ACTH-dependent Cushing syndrome skos:exactMatch Orphanet:99892 ACTH-dependent Cushing syndrome semapv:UnspecifiedMatching MONDO:0020528 ACTH-dependent Cushing syndrome skos:exactMatch SCTID:190502001 semapv:UnspecifiedMatching MONDO:0020528 ACTH-dependent Cushing syndrome skos:exactMatch SCTID:237734007 semapv:UnspecifiedMatching MONDO:0020528 ACTH-dependent Cushing syndrome skos:exactMatch UMLS:C0342442 semapv:UnspecifiedMatching MONDO:0020528 ACTH-dependent Cushing syndrome skos:exactMatch icd11.foundation:212778081 ACTH-dependent Cushing syndrome semapv:UnspecifiedMatching MONDO:0020528 ACTH-dependent Cushing syndrome skos:exactMatch mesh:D047748 semapv:UnspecifiedMatching MONDO:0020529 ACTH-independent Cushing syndrome skos:exactMatch MEDGEN:575037 semapv:UnspecifiedMatching MONDO:0020529 ACTH-independent Cushing syndrome skos:exactMatch Orphanet:647758 Adrenal Cushing syndrome semapv:UnspecifiedMatching MONDO:0020529 ACTH-independent Cushing syndrome skos:exactMatch UMLS:C0342443 semapv:UnspecifiedMatching MONDO:0020529 ACTH-independent Cushing syndrome skos:exactMatch icd11.foundation:652536990 ACTH-independent Cushing syndrome semapv:UnspecifiedMatching MONDO:0020530 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency skos:exactMatch Orphanet:99898 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency semapv:UnspecifiedMatching MONDO:0020530 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency skos:exactMatch mesh:C535530 semapv:UnspecifiedMatching MONDO:0020531 long chain acyl-CoA dehydrogenase deficiency skos:exactMatch MEDGEN:65087 semapv:UnspecifiedMatching MONDO:0020531 long chain acyl-CoA dehydrogenase deficiency skos:exactMatch NCIT:C84537 Long-Chain Acyl-CoA Dehydrogenase Deficiency semapv:UnspecifiedMatching MONDO:0020531 long chain acyl-CoA dehydrogenase deficiency skos:exactMatch SCTID:237996001 semapv:UnspecifiedMatching MONDO:0020531 long chain acyl-CoA dehydrogenase deficiency skos:exactMatch UMLS:C0220711 semapv:UnspecifiedMatching MONDO:0020531 long chain acyl-CoA dehydrogenase deficiency skos:exactMatch icd11.foundation:692829041 Long chain acyl-CoA dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0020531 long chain acyl-CoA dehydrogenase deficiency skos:exactMatch mesh:C535690 semapv:UnspecifiedMatching MONDO:0020532 spirillary rat-bite fever skos:exactMatch DOID:12096 sodoku disease semapv:UnspecifiedMatching MONDO:0020532 spirillary rat-bite fever skos:exactMatch MEDGEN:57745 semapv:UnspecifiedMatching MONDO:0020532 spirillary rat-bite fever skos:exactMatch Orphanet:99903 Spirillary rat-bite fever semapv:UnspecifiedMatching MONDO:0020532 spirillary rat-bite fever skos:exactMatch SCTID:19044004 semapv:UnspecifiedMatching MONDO:0020532 spirillary rat-bite fever skos:exactMatch UMLS:C0152062 semapv:UnspecifiedMatching MONDO:0020532 spirillary rat-bite fever skos:exactMatch icd11.foundation:1104357482 Spirillosis semapv:UnspecifiedMatching MONDO:0020533 streptobacillary rat-bite fever skos:exactMatch DOID:13238 Haverhill fever semapv:UnspecifiedMatching MONDO:0020533 streptobacillary rat-bite fever skos:exactMatch MEDGEN:508864 semapv:UnspecifiedMatching MONDO:0020533 streptobacillary rat-bite fever skos:exactMatch Orphanet:99905 Streptobacillary rat-bite fever semapv:UnspecifiedMatching MONDO:0020533 streptobacillary rat-bite fever skos:exactMatch SCTID:52138004 semapv:UnspecifiedMatching MONDO:0020533 streptobacillary rat-bite fever skos:exactMatch UMLS:C0152063 semapv:UnspecifiedMatching MONDO:0020533 streptobacillary rat-bite fever skos:exactMatch icd11.foundation:614000128 Streptobacillosis semapv:UnspecifiedMatching MONDO:0020535 house allergic alveolitis skos:exactMatch MEDGEN:1387737 semapv:UnspecifiedMatching MONDO:0020535 house allergic alveolitis skos:exactMatch SCTID:725415009 semapv:UnspecifiedMatching MONDO:0020535 house allergic alveolitis skos:exactMatch UMLS:C4511048 semapv:UnspecifiedMatching MONDO:0020535 house allergic alveolitis skos:exactMatch icd11.foundation:1985023223 House allergic alveolitis semapv:UnspecifiedMatching MONDO:0020537 obsolete occupational allergic alveolitis skos:exactMatch Orphanet:99909 OBSOLETE: Occupational allergic alveolitis semapv:UnspecifiedMatching MONDO:0020538 malignant dysgerminomatous germ cell tumor of ovary skos:exactMatch Orphanet:99912 Ovarian dysgerminoma semapv:UnspecifiedMatching MONDO:0020539 extragonadal non-dysgerminomatous germ cell tumor skos:exactMatch MEDGEN:1843056 semapv:UnspecifiedMatching MONDO:0020539 extragonadal non-dysgerminomatous germ cell tumor skos:exactMatch Orphanet:99913 Extragonadal non-dysgerminomatous germ cell tumor semapv:UnspecifiedMatching MONDO:0020539 extragonadal non-dysgerminomatous germ cell tumor skos:exactMatch UMLS:C5681817 semapv:UnspecifiedMatching MONDO:0020540 ovarian gynandroblastoma skos:exactMatch MEDGEN:83412 semapv:UnspecifiedMatching MONDO:0020540 ovarian gynandroblastoma skos:exactMatch NCIT:C3072 Ovarian Gynandroblastoma semapv:UnspecifiedMatching MONDO:0020540 ovarian gynandroblastoma skos:exactMatch Orphanet:99914 Gynandroblastoma semapv:UnspecifiedMatching MONDO:0020540 ovarian gynandroblastoma skos:exactMatch SCTID:254867003 semapv:UnspecifiedMatching MONDO:0020540 ovarian gynandroblastoma skos:exactMatch UMLS:C0346178 semapv:UnspecifiedMatching MONDO:0020540 ovarian gynandroblastoma skos:exactMatch mesh:C538459 semapv:UnspecifiedMatching MONDO:0020541 maligant granulosa cell tumor of ovary skos:exactMatch MEDGEN:138043 semapv:UnspecifiedMatching MONDO:0020541 maligant granulosa cell tumor of ovary skos:exactMatch NCIT:C8403 Malignant Ovarian Granulosa Cell Tumor semapv:UnspecifiedMatching MONDO:0020541 maligant granulosa cell tumor of ovary skos:exactMatch Orphanet:99915 Malignant granulosa cell tumor of the ovary semapv:UnspecifiedMatching MONDO:0020541 maligant granulosa cell tumor of ovary skos:exactMatch SCTID:254861002 semapv:UnspecifiedMatching MONDO:0020541 maligant granulosa cell tumor of ovary skos:exactMatch UMLS:C0346175 semapv:UnspecifiedMatching MONDO:0020541 maligant granulosa cell tumor of ovary skos:exactMatch icd11.foundation:148207042 Granulosa cell malignant tumour of ovary semapv:UnspecifiedMatching MONDO:0020542 malignant Sertoli-Leydig cell tumor of ovary skos:exactMatch MEDGEN:1825991 semapv:UnspecifiedMatching MONDO:0020542 malignant Sertoli-Leydig cell tumor of ovary skos:exactMatch Orphanet:99916 Malignant Sertoli-Leydig cell tumor of the ovary semapv:UnspecifiedMatching MONDO:0020542 malignant Sertoli-Leydig cell tumor of ovary skos:exactMatch SCTID:237795006 semapv:UnspecifiedMatching MONDO:0020542 malignant Sertoli-Leydig cell tumor of ovary skos:exactMatch UMLS:C5574973 semapv:UnspecifiedMatching MONDO:0020543 theca steroid-producing cell malignant tumor of ovary, not further specified skos:exactMatch MEDGEN:904268 semapv:UnspecifiedMatching MONDO:0020543 theca steroid-producing cell malignant tumor of ovary, not further specified skos:exactMatch Orphanet:99917 Theca steroid-producing cell malignant tumor of ovary, not further specified semapv:UnspecifiedMatching MONDO:0020543 theca steroid-producing cell malignant tumor of ovary, not further specified skos:exactMatch UMLS:C4274494 semapv:UnspecifiedMatching MONDO:0020544 streptococcal toxic-shock syndrome skos:exactMatch MEDGEN:575664 semapv:UnspecifiedMatching MONDO:0020544 streptococcal toxic-shock syndrome skos:exactMatch Orphanet:99918 Streptococcal toxic-shock syndrome semapv:UnspecifiedMatching MONDO:0020544 streptococcal toxic-shock syndrome skos:exactMatch SCTID:240451000 semapv:UnspecifiedMatching MONDO:0020544 streptococcal toxic-shock syndrome skos:exactMatch UMLS:C0343532 semapv:UnspecifiedMatching MONDO:0020544 streptococcal toxic-shock syndrome skos:exactMatch icd11.foundation:197163558 Streptococcal toxic shock syndrome semapv:UnspecifiedMatching MONDO:0020545 staphylococcal toxic-shock syndrome skos:exactMatch MEDGEN:811401 semapv:UnspecifiedMatching MONDO:0020545 staphylococcal toxic-shock syndrome skos:exactMatch Orphanet:99919 Staphylococcal toxic-shock syndrome semapv:UnspecifiedMatching MONDO:0020545 staphylococcal toxic-shock syndrome skos:exactMatch SCTID:240450004 semapv:UnspecifiedMatching MONDO:0020545 staphylococcal toxic-shock syndrome skos:exactMatch UMLS:C3714602 semapv:UnspecifiedMatching MONDO:0020545 staphylococcal toxic-shock syndrome skos:exactMatch icd11.foundation:788554020 Staphylococcal toxic shock syndrome semapv:UnspecifiedMatching MONDO:0020546 acute graft versus host disease skos:exactMatch ICD10CM:D89.810 Acute graft-versus-host disease semapv:UnspecifiedMatching MONDO:0020546 acute graft versus host disease skos:exactMatch MEDGEN:208987 semapv:UnspecifiedMatching MONDO:0020546 acute graft versus host disease skos:exactMatch NCIT:C4980 Acute Graft Versus Host Disease semapv:UnspecifiedMatching MONDO:0020546 acute graft versus host disease skos:exactMatch Orphanet:99920 Acute graft versus host disease semapv:UnspecifiedMatching MONDO:0020546 acute graft versus host disease skos:exactMatch SCTID:402355000 semapv:UnspecifiedMatching MONDO:0020546 acute graft versus host disease skos:exactMatch UMLS:C0856825 semapv:UnspecifiedMatching MONDO:0020546 acute graft versus host disease skos:exactMatch icd11.foundation:83784921 Acute graft-versus-host disease semapv:UnspecifiedMatching MONDO:0020547 chronic graft versus host disease skos:exactMatch ICD10CM:D89.811 Chronic graft-versus-host disease semapv:UnspecifiedMatching MONDO:0020547 chronic graft versus host disease skos:exactMatch MEDGEN:167851 semapv:UnspecifiedMatching MONDO:0020547 chronic graft versus host disease skos:exactMatch NCIT:C4981 Chronic Graft Versus Host Disease semapv:UnspecifiedMatching MONDO:0020547 chronic graft versus host disease skos:exactMatch Orphanet:99921 Chronic graft versus host disease semapv:UnspecifiedMatching MONDO:0020547 chronic graft versus host disease skos:exactMatch SCTID:402356004 semapv:UnspecifiedMatching MONDO:0020547 chronic graft versus host disease skos:exactMatch UMLS:C0867389 semapv:UnspecifiedMatching MONDO:0020547 chronic graft versus host disease skos:exactMatch icd11.foundation:621183043 Chronic graft-versus-host disease semapv:UnspecifiedMatching MONDO:0020549 invasive hydatidiform mole skos:exactMatch MEDGEN:3055 semapv:UnspecifiedMatching MONDO:0020549 invasive hydatidiform mole skos:exactMatch NCIT:C6985 Invasive Hydatidiform Mole semapv:UnspecifiedMatching MONDO:0020549 invasive hydatidiform mole skos:exactMatch Orphanet:99925 Invasive mole semapv:UnspecifiedMatching MONDO:0020549 invasive hydatidiform mole skos:exactMatch SCTID:416669000 semapv:UnspecifiedMatching MONDO:0020549 invasive hydatidiform mole skos:exactMatch UMLS:C0008493 semapv:UnspecifiedMatching MONDO:0020549 invasive hydatidiform mole skos:exactMatch mesh:D002820 semapv:UnspecifiedMatching MONDO:0020550 gestational choriocarcinoma skos:exactMatch DOID:2025 gestational choriocarcinoma semapv:UnspecifiedMatching MONDO:0020550 gestational choriocarcinoma skos:exactMatch MEDGEN:138102 semapv:UnspecifiedMatching MONDO:0020550 gestational choriocarcinoma skos:exactMatch NCIT:C4646 Gestational Choriocarcinoma semapv:UnspecifiedMatching MONDO:0020550 gestational choriocarcinoma skos:exactMatch Orphanet:99926 Gestational choriocarcinoma semapv:UnspecifiedMatching MONDO:0020550 gestational choriocarcinoma skos:exactMatch SCTID:417570003 semapv:UnspecifiedMatching MONDO:0020550 gestational choriocarcinoma skos:exactMatch UMLS:C0349557 semapv:UnspecifiedMatching MONDO:0020550 gestational choriocarcinoma skos:exactMatch icd11.foundation:2136066651 Gestational choriocarcinoma semapv:UnspecifiedMatching MONDO:0020552 placental site trophoblastic tumor skos:exactMatch DOID:3596 placental site trophoblastic tumor semapv:UnspecifiedMatching MONDO:0020552 placental site trophoblastic tumor skos:exactMatch EFO:1001111 semapv:UnspecifiedMatching MONDO:0020552 placental site trophoblastic tumor skos:exactMatch MEDGEN:104914 semapv:UnspecifiedMatching MONDO:0020552 placental site trophoblastic tumor skos:exactMatch NCIT:C3757 Placental Site Trophoblastic Tumor semapv:UnspecifiedMatching MONDO:0020552 placental site trophoblastic tumor skos:exactMatch Orphanet:99928 Placental site trophoblastic tumor semapv:UnspecifiedMatching MONDO:0020552 placental site trophoblastic tumor skos:exactMatch SCTID:237252008 semapv:UnspecifiedMatching MONDO:0020552 placental site trophoblastic tumor skos:exactMatch UMLS:C0206666 semapv:UnspecifiedMatching MONDO:0020552 placental site trophoblastic tumor skos:exactMatch mesh:D018245 semapv:UnspecifiedMatching MONDO:0020553 secondary pulmonary hemosiderosis skos:exactMatch MEDGEN:909854 semapv:UnspecifiedMatching MONDO:0020553 secondary pulmonary hemosiderosis skos:exactMatch Orphanet:99930 Secondary pulmonary hemosiderosis semapv:UnspecifiedMatching MONDO:0020553 secondary pulmonary hemosiderosis skos:exactMatch SCTID:716712004 semapv:UnspecifiedMatching MONDO:0020553 secondary pulmonary hemosiderosis skos:exactMatch UMLS:C4274326 semapv:UnspecifiedMatching MONDO:0020553 secondary pulmonary hemosiderosis skos:exactMatch icd11.foundation:878618614 Secondary pulmonary haemosiderosis semapv:UnspecifiedMatching MONDO:0020554 Heiner syndrome skos:exactMatch MEDGEN:844833 semapv:UnspecifiedMatching MONDO:0020554 Heiner syndrome skos:exactMatch Orphanet:99932 Heiner syndrome semapv:UnspecifiedMatching MONDO:0020554 Heiner syndrome skos:exactMatch SCTID:707441009 semapv:UnspecifiedMatching MONDO:0020554 Heiner syndrome skos:exactMatch UMLS:C3873343 semapv:UnspecifiedMatching MONDO:0020554 Heiner syndrome skos:exactMatch icd11.foundation:187112249 Heiner syndrome semapv:UnspecifiedMatching MONDO:0020555 pleuropulmonary blastoma type 1 skos:exactMatch MEDGEN:318288 semapv:UnspecifiedMatching MONDO:0020555 pleuropulmonary blastoma type 1 skos:exactMatch NCIT:C45626 Type I Pleuropulmonary Blastoma semapv:UnspecifiedMatching MONDO:0020555 pleuropulmonary blastoma type 1 skos:exactMatch Orphanet:99933 Pleuropulmonary blastoma type 1 semapv:UnspecifiedMatching MONDO:0020555 pleuropulmonary blastoma type 1 skos:exactMatch SCTID:707671008 semapv:UnspecifiedMatching MONDO:0020555 pleuropulmonary blastoma type 1 skos:exactMatch UMLS:C1710501 semapv:UnspecifiedMatching MONDO:0020556 pleuropulmonary blastoma type 2 skos:exactMatch MEDGEN:328133 semapv:UnspecifiedMatching MONDO:0020556 pleuropulmonary blastoma type 2 skos:exactMatch NCIT:C45627 Type II Pleuropulmonary Blastoma semapv:UnspecifiedMatching MONDO:0020556 pleuropulmonary blastoma type 2 skos:exactMatch Orphanet:99934 Pleuropulmonary blastoma type 2 semapv:UnspecifiedMatching MONDO:0020556 pleuropulmonary blastoma type 2 skos:exactMatch SCTID:707672001 semapv:UnspecifiedMatching MONDO:0020556 pleuropulmonary blastoma type 2 skos:exactMatch UMLS:C1710500 semapv:UnspecifiedMatching MONDO:0020557 pleuropulmonary blastoma type 3 skos:exactMatch MEDGEN:328132 semapv:UnspecifiedMatching MONDO:0020557 pleuropulmonary blastoma type 3 skos:exactMatch NCIT:C45628 Type III Pleuropulmonary Blastoma semapv:UnspecifiedMatching MONDO:0020557 pleuropulmonary blastoma type 3 skos:exactMatch Orphanet:99935 Pleuropulmonary blastoma type 3 semapv:UnspecifiedMatching MONDO:0020557 pleuropulmonary blastoma type 3 skos:exactMatch SCTID:707673006 semapv:UnspecifiedMatching MONDO:0020557 pleuropulmonary blastoma type 3 skos:exactMatch UMLS:C1710499 semapv:UnspecifiedMatching MONDO:0020558 autosomal dominant Charcot-Marie-Tooth disease type 2K skos:exactMatch MEDGEN:334294 semapv:UnspecifiedMatching MONDO:0020558 autosomal dominant Charcot-Marie-Tooth disease type 2K skos:exactMatch NCIT:C133886 Charcot-Marie-Tooth Disease Type 2K semapv:UnspecifiedMatching MONDO:0020558 autosomal dominant Charcot-Marie-Tooth disease type 2K skos:exactMatch Orphanet:99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K semapv:UnspecifiedMatching MONDO:0020558 autosomal dominant Charcot-Marie-Tooth disease type 2K skos:exactMatch SCTID:719512003 semapv:UnspecifiedMatching MONDO:0020558 autosomal dominant Charcot-Marie-Tooth disease type 2K skos:exactMatch UMLS:C1842984 semapv:UnspecifiedMatching MONDO:0020559 O'Sullivan-McLeod syndrome skos:exactMatch MEDGEN:797656 semapv:UnspecifiedMatching MONDO:0020559 O'Sullivan-McLeod syndrome skos:exactMatch Orphanet:99965 O'Sullivan-McLeod syndrome semapv:UnspecifiedMatching MONDO:0020559 O'Sullivan-McLeod syndrome skos:exactMatch UMLS:C2721741 semapv:UnspecifiedMatching MONDO:0020560 atypical teratoid rhabdoid tumor skos:exactMatch DOID:2129 atypical teratoid rhabdoid tumor semapv:UnspecifiedMatching MONDO:0020560 atypical teratoid rhabdoid tumor skos:exactMatch EFO:1002008 semapv:UnspecifiedMatching MONDO:0020560 atypical teratoid rhabdoid tumor skos:exactMatch MEDGEN:226853 semapv:UnspecifiedMatching MONDO:0020560 atypical teratoid rhabdoid tumor skos:exactMatch NCIT:C6906 Atypical Teratoid/Rhabdoid Tumor semapv:UnspecifiedMatching MONDO:0020560 atypical teratoid rhabdoid tumor skos:exactMatch Orphanet:99966 Atypical teratoid rhabdoid tumor semapv:UnspecifiedMatching MONDO:0020560 atypical teratoid rhabdoid tumor skos:exactMatch UMLS:C1266184 semapv:UnspecifiedMatching MONDO:0020561 myxoid/round cell liposarcoma skos:exactMatch MEDGEN:107784 semapv:UnspecifiedMatching MONDO:0020561 myxoid/round cell liposarcoma skos:exactMatch Orphanet:99967 Myxoid/round cell liposarcoma semapv:UnspecifiedMatching MONDO:0020561 myxoid/round cell liposarcoma skos:exactMatch UMLS:C0545074 semapv:UnspecifiedMatching MONDO:0020562 pleomorphic liposarcoma skos:exactMatch DOID:5702 pleomorphic liposarcoma semapv:UnspecifiedMatching MONDO:0020562 pleomorphic liposarcoma skos:exactMatch EFO:0003083 semapv:UnspecifiedMatching MONDO:0020562 pleomorphic liposarcoma skos:exactMatch MEDGEN:61457 semapv:UnspecifiedMatching MONDO:0020562 pleomorphic liposarcoma skos:exactMatch NCIT:C3705 Pleomorphic Liposarcoma semapv:UnspecifiedMatching MONDO:0020562 pleomorphic liposarcoma skos:exactMatch Orphanet:99969 Pleomorphic liposarcoma semapv:UnspecifiedMatching MONDO:0020562 pleomorphic liposarcoma skos:exactMatch SCTID:404071006 semapv:UnspecifiedMatching MONDO:0020562 pleomorphic liposarcoma skos:exactMatch UMLS:C0205825 semapv:UnspecifiedMatching MONDO:0020563 dedifferentiated liposarcoma skos:exactMatch DOID:0080531 dedifferentiated liposarcoma semapv:UnspecifiedMatching MONDO:0020563 dedifferentiated liposarcoma skos:exactMatch EFO:0003085 semapv:UnspecifiedMatching MONDO:0020563 dedifferentiated liposarcoma skos:exactMatch MEDGEN:60028 semapv:UnspecifiedMatching MONDO:0020563 dedifferentiated liposarcoma skos:exactMatch NCIT:C3704 Dedifferentiated Liposarcoma semapv:UnspecifiedMatching MONDO:0020563 dedifferentiated liposarcoma skos:exactMatch Orphanet:99970 Dedifferentiated liposarcoma semapv:UnspecifiedMatching MONDO:0020563 dedifferentiated liposarcoma skos:exactMatch SCTID:404072004 semapv:UnspecifiedMatching MONDO:0020563 dedifferentiated liposarcoma skos:exactMatch UMLS:C0205824 semapv:UnspecifiedMatching MONDO:0020567 apnea of prematurity skos:exactMatch MEDGEN:473179 semapv:UnspecifiedMatching MONDO:0020567 apnea of prematurity skos:exactMatch NCIT:C98823 Apnea of Prematurity semapv:UnspecifiedMatching MONDO:0020567 apnea of prematurity skos:exactMatch Orphanet:99981 Apnea of prematurity semapv:UnspecifiedMatching MONDO:0020567 apnea of prematurity skos:exactMatch SCTID:276544005 semapv:UnspecifiedMatching MONDO:0020567 apnea of prematurity skos:exactMatch UMLS:C0475715 semapv:UnspecifiedMatching MONDO:0020567 apnea of prematurity skos:exactMatch icd11.foundation:894774581 Primary central sleep apnoea of prematurity semapv:UnspecifiedMatching MONDO:0020568 cutaneous myiasis skos:exactMatch ICD10CM:B87.0 Cutaneous myiasis semapv:UnspecifiedMatching MONDO:0020568 cutaneous myiasis skos:exactMatch MEDGEN:507962 semapv:UnspecifiedMatching MONDO:0020568 cutaneous myiasis skos:exactMatch Orphanet:99983 Cutaneous myiasis semapv:UnspecifiedMatching MONDO:0020568 cutaneous myiasis skos:exactMatch SCTID:240877000 semapv:UnspecifiedMatching MONDO:0020568 cutaneous myiasis skos:exactMatch UMLS:C0027031 semapv:UnspecifiedMatching MONDO:0020568 cutaneous myiasis skos:exactMatch icd11.foundation:1342682193 Cutaneous myiasis semapv:UnspecifiedMatching MONDO:0020569 intermediate DEND syndrome skos:exactMatch MEDGEN:1843317 semapv:UnspecifiedMatching MONDO:0020569 intermediate DEND syndrome skos:exactMatch Orphanet:99989 Intermediate DEND syndrome semapv:UnspecifiedMatching MONDO:0020569 intermediate DEND syndrome skos:exactMatch UMLS:C5680423 semapv:UnspecifiedMatching MONDO:0020571 relapsing epidemic typhus skos:exactMatch MEDGEN:1826151 semapv:UnspecifiedMatching MONDO:0020571 relapsing epidemic typhus skos:exactMatch Orphanet:99991 Relapsing epidemic typhus semapv:UnspecifiedMatching MONDO:0020571 relapsing epidemic typhus skos:exactMatch UMLS:C5681812 semapv:UnspecifiedMatching MONDO:0020572 complex regional pain syndrome type 2 skos:exactMatch DOID:3222 causalgia semapv:UnspecifiedMatching MONDO:0020572 complex regional pain syndrome type 2 skos:exactMatch EFO:1000854 semapv:UnspecifiedMatching MONDO:0020572 complex regional pain syndrome type 2 skos:exactMatch MEDGEN:2918 semapv:UnspecifiedMatching MONDO:0020572 complex regional pain syndrome type 2 skos:exactMatch NCIT:C121572 Complex Regional Pain Syndrome II semapv:UnspecifiedMatching MONDO:0020572 complex regional pain syndrome type 2 skos:exactMatch Orphanet:99994 Complex regional pain syndrome type 2 semapv:UnspecifiedMatching MONDO:0020572 complex regional pain syndrome type 2 skos:exactMatch SCTID:408751001 semapv:UnspecifiedMatching MONDO:0020572 complex regional pain syndrome type 2 skos:exactMatch UMLS:C0007462 semapv:UnspecifiedMatching MONDO:0020572 complex regional pain syndrome type 2 skos:exactMatch mesh:D002422 semapv:UnspecifiedMatching MONDO:0020573 inherited disease susceptibility skos:exactMatch ICD10CM:Z15 Genetic susceptibility to disease semapv:UnspecifiedMatching MONDO:0020573 inherited disease susceptibility skos:exactMatch MEDGEN:1876499 semapv:UnspecifiedMatching MONDO:0020573 inherited disease susceptibility skos:exactMatch UMLS:C1455997 semapv:UnspecifiedMatching MONDO:0020573 inherited disease susceptibility skos:exactMatch mesh:D020022 semapv:UnspecifiedMatching MONDO:0020574 central nervous system nongerminomatous germ cell tumor skos:exactMatch MEDGEN:760465 semapv:UnspecifiedMatching MONDO:0020574 central nervous system nongerminomatous germ cell tumor skos:exactMatch NCIT:C100093 Central Nervous System Nongerminomatous Germ Cell Tumor semapv:UnspecifiedMatching MONDO:0020574 central nervous system nongerminomatous germ cell tumor skos:exactMatch UMLS:C1696109 semapv:UnspecifiedMatching MONDO:0020575 polymorphic ventricular tachycardia skos:exactMatch MEDGEN:138002 semapv:UnspecifiedMatching MONDO:0020575 polymorphic ventricular tachycardia skos:exactMatch NCIT:C111648 Polymorphic Ventricular Tachycardia semapv:UnspecifiedMatching MONDO:0020575 polymorphic ventricular tachycardia skos:exactMatch SCTID:251159007 semapv:UnspecifiedMatching MONDO:0020575 polymorphic ventricular tachycardia skos:exactMatch UMLS:C0344432 semapv:UnspecifiedMatching MONDO:0020575 polymorphic ventricular tachycardia skos:exactMatch icd11.foundation:16452928 Polymorphic ventricular tachycardia semapv:UnspecifiedMatching MONDO:0020576 cutaneous vasculitis skos:exactMatch MEDGEN:488809 semapv:UnspecifiedMatching MONDO:0020576 cutaneous vasculitis skos:exactMatch NCIT:C112210 Cutaneous Vasculitis semapv:UnspecifiedMatching MONDO:0020576 cutaneous vasculitis skos:exactMatch UMLS:C0262988 semapv:UnspecifiedMatching MONDO:0020577 childhood gonadal germ cell tumor skos:exactMatch MEDGEN:859251 semapv:UnspecifiedMatching MONDO:0020577 childhood gonadal germ cell tumor skos:exactMatch NCIT:C114801 Childhood Gonadal Germ Cell Tumor semapv:UnspecifiedMatching MONDO:0020577 childhood gonadal germ cell tumor skos:exactMatch UMLS:C3899657 semapv:UnspecifiedMatching MONDO:0020579 mucositis skos:exactMatch MEDGEN:87165 semapv:UnspecifiedMatching MONDO:0020579 mucositis skos:exactMatch NCIT:C115965 Mucositis semapv:UnspecifiedMatching MONDO:0020579 mucositis skos:exactMatch UMLS:C0333355 semapv:UnspecifiedMatching MONDO:0020579 mucositis skos:exactMatch mesh:D052016 semapv:UnspecifiedMatching MONDO:0020580 germinomatous germ cell tumor skos:exactMatch MEDGEN:888719 semapv:UnspecifiedMatching MONDO:0020580 germinomatous germ cell tumor skos:exactMatch NCIT:C121618 Germinomatous Germ Cell Tumor semapv:UnspecifiedMatching MONDO:0020580 germinomatous germ cell tumor skos:exactMatch UMLS:C4054897 semapv:UnspecifiedMatching MONDO:0020581 benign PEComa skos:exactMatch MEDGEN:825530 semapv:UnspecifiedMatching MONDO:0020581 benign PEComa skos:exactMatch NCIT:C121791 Benign PEComa semapv:UnspecifiedMatching MONDO:0020581 benign PEComa skos:exactMatch UMLS:C3839685 semapv:UnspecifiedMatching MONDO:0020582 benign uterine ligament neoplasm skos:exactMatch MEDGEN:923071 semapv:UnspecifiedMatching MONDO:0020582 benign uterine ligament neoplasm skos:exactMatch NCIT:C126493 Benign Uterine Ligament Neoplasm semapv:UnspecifiedMatching MONDO:0020582 benign uterine ligament neoplasm skos:exactMatch UMLS:C0865093 semapv:UnspecifiedMatching MONDO:0020583 chromosome 17 disorder skos:exactMatch MEDGEN:1380521 semapv:UnspecifiedMatching MONDO:0020583 chromosome 17 disorder skos:exactMatch UMLS:C4329664 semapv:UnspecifiedMatching MONDO:0020584 anemia due to enzyme disorder skos:exactMatch MEDGEN:105411 semapv:UnspecifiedMatching MONDO:0020584 anemia due to enzyme disorder skos:exactMatch NCIT:C35472 Anemia due to Enzyme Disorder semapv:UnspecifiedMatching MONDO:0020584 anemia due to enzyme disorder skos:exactMatch UMLS:C0494226 semapv:UnspecifiedMatching MONDO:0020585 anemia due to erythrocyte enzyme disorder skos:exactMatch MEDGEN:1383362 semapv:UnspecifiedMatching MONDO:0020585 anemia due to erythrocyte enzyme disorder skos:exactMatch NCIT:C131630 Anemia due to Erythrocyte Enzyme Disorder semapv:UnspecifiedMatching MONDO:0020585 anemia due to erythrocyte enzyme disorder skos:exactMatch UMLS:C4329304 semapv:UnspecifiedMatching MONDO:0020586 factor V deficiency skos:exactMatch MEDGEN:1369551 semapv:UnspecifiedMatching MONDO:0020586 factor V deficiency skos:exactMatch NCIT:C131738 Factor V Deficiency semapv:UnspecifiedMatching MONDO:0020586 factor V deficiency skos:exactMatch SCTID:4320005 semapv:UnspecifiedMatching MONDO:0020586 factor V deficiency skos:exactMatch UMLS:C4317320 semapv:UnspecifiedMatching MONDO:0020586 factor V deficiency skos:exactMatch mesh:D005166 semapv:UnspecifiedMatching MONDO:0020587 factor XI deficiency skos:exactMatch MEDGEN:1386956 semapv:UnspecifiedMatching MONDO:0020587 factor XI deficiency skos:exactMatch NCIT:C131739 Factor XI Deficiency semapv:UnspecifiedMatching MONDO:0020587 factor XI deficiency skos:exactMatch SCTID:767713001 semapv:UnspecifiedMatching MONDO:0020587 factor XI deficiency skos:exactMatch UMLS:C4321502 semapv:UnspecifiedMatching MONDO:0020587 factor XI deficiency skos:exactMatch mesh:D005173 semapv:UnspecifiedMatching MONDO:0020588 lung PEComa skos:exactMatch MEDGEN:1639012 semapv:UnspecifiedMatching MONDO:0020588 lung PEComa skos:exactMatch NCIT:C142783 Lung PEComa semapv:UnspecifiedMatching MONDO:0020588 lung PEComa skos:exactMatch UMLS:C4684821 semapv:UnspecifiedMatching MONDO:0020589 cardiac germ cell tumor skos:exactMatch MEDGEN:1633290 semapv:UnspecifiedMatching MONDO:0020589 cardiac germ cell tumor skos:exactMatch NCIT:C147005 Cardiac Germ Cell Tumor semapv:UnspecifiedMatching MONDO:0020589 cardiac germ cell tumor skos:exactMatch UMLS:C4687640 semapv:UnspecifiedMatching MONDO:0020590 mycobacterial infectious disease skos:exactMatch MEDGEN:6479 semapv:UnspecifiedMatching MONDO:0020590 mycobacterial infectious disease skos:exactMatch NCIT:C26831 Mycobacterial Infection semapv:UnspecifiedMatching MONDO:0020590 mycobacterial infectious disease skos:exactMatch SCTID:88415009 semapv:UnspecifiedMatching MONDO:0020590 mycobacterial infectious disease skos:exactMatch UMLS:C0026918 semapv:UnspecifiedMatching MONDO:0020590 mycobacterial infectious disease skos:exactMatch mesh:D009164 semapv:UnspecifiedMatching MONDO:0020591 obsolete disorder of peritoneum skos:exactMatch NCIT:C26848 Peritoneal Disorder semapv:UnspecifiedMatching MONDO:0020591 obsolete disorder of peritoneum skos:exactMatch SCTID:66579008 semapv:UnspecifiedMatching MONDO:0020591 obsolete disorder of peritoneum skos:exactMatch mesh:D010532 semapv:UnspecifiedMatching MONDO:0020592 disorder of pharynx skos:exactMatch MEDGEN:10691 semapv:UnspecifiedMatching MONDO:0020592 disorder of pharynx skos:exactMatch NCIT:C26850 Pharyngeal Disorder semapv:UnspecifiedMatching MONDO:0020592 disorder of pharynx skos:exactMatch SCTID:75860007 semapv:UnspecifiedMatching MONDO:0020592 disorder of pharynx skos:exactMatch UMLS:C0031345 semapv:UnspecifiedMatching MONDO:0020593 trichoblastoma skos:exactMatch MEDGEN:138112 semapv:UnspecifiedMatching MONDO:0020593 trichoblastoma skos:exactMatch NCIT:C27132 Trichoblastoma semapv:UnspecifiedMatching MONDO:0020593 trichoblastoma skos:exactMatch UMLS:C0349658 semapv:UnspecifiedMatching MONDO:0020593 trichoblastoma skos:exactMatch icd11.foundation:1414797713 Trichoblastoma semapv:UnspecifiedMatching MONDO:0020594 abducens nerve disorder skos:exactMatch MEDGEN:78767 semapv:UnspecifiedMatching MONDO:0020594 abducens nerve disorder skos:exactMatch NCIT:C27593 Abducens Nerve Disorder semapv:UnspecifiedMatching MONDO:0020594 abducens nerve disorder skos:exactMatch SCTID:398925009 semapv:UnspecifiedMatching MONDO:0020594 abducens nerve disorder skos:exactMatch UMLS:C0271355 semapv:UnspecifiedMatching MONDO:0020595 obsolete disorder of retroperitoneum skos:exactMatch NCIT:C27667 Retroperitoneal Disorder semapv:UnspecifiedMatching MONDO:0020595 obsolete disorder of retroperitoneum skos:exactMatch SCTID:734045002 semapv:UnspecifiedMatching MONDO:0020596 mucin-producing carcinoma skos:exactMatch MEDGEN:87225 semapv:UnspecifiedMatching MONDO:0020596 mucin-producing carcinoma skos:exactMatch NCIT:C27825 Mucin-Producing Carcinoma semapv:UnspecifiedMatching MONDO:0020596 mucin-producing carcinoma skos:exactMatch UMLS:C0334368 semapv:UnspecifiedMatching MONDO:0020597 angiokeratoma of scrotum skos:exactMatch MEDGEN:1866900 semapv:UnspecifiedMatching MONDO:0020597 angiokeratoma of scrotum skos:exactMatch NCIT:C7752 Angiokeratoma of Fordyce semapv:UnspecifiedMatching MONDO:0020597 angiokeratoma of scrotum skos:exactMatch SCTID:735082004 semapv:UnspecifiedMatching MONDO:0020597 angiokeratoma of scrotum skos:exactMatch UMLS:C5960005 semapv:UnspecifiedMatching MONDO:0020598 malabsorption syndrome skos:exactMatch EFO:0009554 semapv:UnspecifiedMatching MONDO:0020598 malabsorption syndrome skos:exactMatch MEDGEN:44256 semapv:UnspecifiedMatching MONDO:0020598 malabsorption syndrome skos:exactMatch NCIT:C3214 Malabsorption Syndrome semapv:UnspecifiedMatching MONDO:0020598 malabsorption syndrome skos:exactMatch SCTID:32230006 semapv:UnspecifiedMatching MONDO:0020598 malabsorption syndrome skos:exactMatch UMLS:C0024523 semapv:UnspecifiedMatching MONDO:0020598 malabsorption syndrome skos:exactMatch mesh:D008286 semapv:UnspecifiedMatching MONDO:0020599 acquired coagulation factor deficiency skos:exactMatch ICD10CM:D68.4 Acquired coagulation factor deficiency semapv:UnspecifiedMatching MONDO:0020599 acquired coagulation factor deficiency skos:exactMatch MEDGEN:98 semapv:UnspecifiedMatching MONDO:0020599 acquired coagulation factor deficiency skos:exactMatch NCIT:C34347 Acquired Coagulation Factor Deficiency semapv:UnspecifiedMatching MONDO:0020599 acquired coagulation factor deficiency skos:exactMatch SCTID:25904003 semapv:UnspecifiedMatching MONDO:0020599 acquired coagulation factor deficiency skos:exactMatch UMLS:C0001169 semapv:UnspecifiedMatching MONDO:0020600 acute pharyngitis skos:exactMatch EFO:0009657 semapv:UnspecifiedMatching MONDO:0020600 acute pharyngitis skos:exactMatch ICD10CM:J02 Acute pharyngitis semapv:UnspecifiedMatching MONDO:0020600 acute pharyngitis skos:exactMatch ICD10WHO:J02 Acute pharyngitis semapv:UnspecifiedMatching MONDO:0020600 acute pharyngitis skos:exactMatch MEDGEN:114 semapv:UnspecifiedMatching MONDO:0020600 acute pharyngitis skos:exactMatch NCIT:C34355 Acute Pharyngitis semapv:UnspecifiedMatching MONDO:0020600 acute pharyngitis skos:exactMatch SCTID:363746003 semapv:UnspecifiedMatching MONDO:0020600 acute pharyngitis skos:exactMatch UMLS:C0001344 semapv:UnspecifiedMatching MONDO:0020600 acute pharyngitis skos:exactMatch icd11.foundation:1791890273 Acute pharyngitis semapv:UnspecifiedMatching MONDO:0020601 mosquito-borne viral encephalitis skos:exactMatch ICD10CM:A83 Mosquito-borne viral encephalitis semapv:UnspecifiedMatching MONDO:0020601 mosquito-borne viral encephalitis skos:exactMatch ICD10WHO:A83 Mosquito-borne viral encephalitis semapv:UnspecifiedMatching MONDO:0020601 mosquito-borne viral encephalitis skos:exactMatch MEDGEN:152945 semapv:UnspecifiedMatching MONDO:0020601 mosquito-borne viral encephalitis skos:exactMatch NCIT:C34823 Mosquito-Borne Viral Encephalitis semapv:UnspecifiedMatching MONDO:0020601 mosquito-borne viral encephalitis skos:exactMatch UMLS:C0751098 semapv:UnspecifiedMatching MONDO:0020602 Simpson-Golabi-Behmel syndrome type 1 skos:exactMatch DOID:0060248 Simpson-Golabi-Behmel syndrome type 1 semapv:UnspecifiedMatching MONDO:0020602 Simpson-Golabi-Behmel syndrome type 1 skos:exactMatch MEDGEN:162917 semapv:UnspecifiedMatching MONDO:0020602 Simpson-Golabi-Behmel syndrome type 1 skos:exactMatch OMIM:312870 simpson-golabi-behmel syndrome, type 1 semapv:UnspecifiedMatching MONDO:0020602 Simpson-Golabi-Behmel syndrome type 1 skos:exactMatch UMLS:C0796154 semapv:UnspecifiedMatching MONDO:0020603 X-linked chondrodysplasia punctata 2 skos:exactMatch DOID:0080352 X-linked chondrodysplasia punctata 2 semapv:UnspecifiedMatching MONDO:0020603 X-linked chondrodysplasia punctata 2 skos:exactMatch MEDGEN:79381 semapv:UnspecifiedMatching MONDO:0020603 X-linked chondrodysplasia punctata 2 skos:exactMatch OMIM:302960 chondrodysplasia punctata 2, X-linked dominant semapv:UnspecifiedMatching MONDO:0020603 X-linked chondrodysplasia punctata 2 skos:exactMatch Orphanet:35173 X-linked dominant chondrodysplasia punctata semapv:UnspecifiedMatching MONDO:0020603 X-linked chondrodysplasia punctata 2 skos:exactMatch UMLS:C0282102 semapv:UnspecifiedMatching MONDO:0020604 X-linked dominant disease skos:exactMatch DOID:0080009 X-linked dominant disease semapv:UnspecifiedMatching MONDO:0020604 X-linked dominant disease skos:exactMatch MEDGEN:1798084 semapv:UnspecifiedMatching MONDO:0020604 X-linked dominant disease skos:exactMatch UMLS:C5566661 semapv:UnspecifiedMatching MONDO:0020605 X-linked recessive disease skos:exactMatch DOID:0080012 X-linked recessive disease semapv:UnspecifiedMatching MONDO:0020605 X-linked recessive disease skos:exactMatch MEDGEN:1798083 semapv:UnspecifiedMatching MONDO:0020605 X-linked recessive disease skos:exactMatch UMLS:C5566660 semapv:UnspecifiedMatching MONDO:0020606 sex-linked disease skos:exactMatch MEDGEN:183658 semapv:UnspecifiedMatching MONDO:0020606 sex-linked disease skos:exactMatch SCTID:82852009 semapv:UnspecifiedMatching MONDO:0020606 sex-linked disease skos:exactMatch UMLS:C0949683 semapv:UnspecifiedMatching MONDO:0020607 Liddle syndrome 1 skos:exactMatch OMIM:177200 liddle syndrome 1 semapv:UnspecifiedMatching MONDO:0020608 obsolete blood group--ahonen skos:exactMatch OMIM:110350 blood group--ahonen semapv:UnspecifiedMatching MONDO:0020609 obsolete blood group, colton system skos:exactMatch OMIM:110450 blood group, colton system semapv:UnspecifiedMatching MONDO:0020610 obsolete blood group, diego system skos:exactMatch OMIM:110500 blood group, diego system semapv:UnspecifiedMatching MONDO:0020611 obsolete blood group--kell system skos:exactMatch OMIM:110900 blood group--kell system semapv:UnspecifiedMatching MONDO:0020612 obsolete blood group, kidd system skos:exactMatch OMIM:111000 blood group, kidd system semapv:UnspecifiedMatching MONDO:0020613 obsolete blood group--lke skos:exactMatch OMIM:111130 blood group--lke semapv:UnspecifiedMatching MONDO:0020614 obsolete blood group--lutheran system skos:exactMatch OMIM:111200 blood group--lutheran system semapv:UnspecifiedMatching MONDO:0020615 obsolete blood group system, landsteiner-wiener skos:exactMatch OMIM:111250 blood group system, landsteiner-wiener semapv:UnspecifiedMatching MONDO:0020616 obsolete blood group, mn skos:exactMatch OMIM:111300 blood group, MN semapv:UnspecifiedMatching MONDO:0020617 obsolete blood group--ok skos:exactMatch OMIM:111380 blood group--ok semapv:UnspecifiedMatching MONDO:0020618 obsolete blood group--private systems skos:exactMatch OMIM:111500 blood group--private systems semapv:UnspecifiedMatching MONDO:0020619 obsolete blood group, langereis system skos:exactMatch OMIM:111600 blood group, langereis system semapv:UnspecifiedMatching MONDO:0020620 obsolete blood group, ss skos:exactMatch OMIM:111740 blood group, Ss semapv:UnspecifiedMatching MONDO:0020621 obsolete blood group--scianna system skos:exactMatch OMIM:111750 blood group--scianna system semapv:UnspecifiedMatching MONDO:0020622 obsolete blood group--stoltzfus system skos:exactMatch OMIM:111800 blood group--stoltzfus system semapv:UnspecifiedMatching MONDO:0020623 obsolete blood group--ul system skos:exactMatch OMIM:112000 blood group--ul system semapv:UnspecifiedMatching MONDO:0020624 obsolete blood group--waldner type skos:exactMatch OMIM:112010 blood group--waldner type semapv:UnspecifiedMatching MONDO:0020625 obsolete blood group--wright antigen skos:exactMatch OMIM:112050 blood group--wright antigen semapv:UnspecifiedMatching MONDO:0020626 obsolete yt blood group antigen skos:exactMatch OMIM:112100 yt blood group antigen semapv:UnspecifiedMatching MONDO:0020627 obsolete epileptic encephalopathy, infantile or early childhood skos:exactMatch OMIMPS:617711 semapv:UnspecifiedMatching MONDO:0020628 microcephaly, growth restriction, and increased sister chromatid exchange 2 skos:exactMatch MEDGEN:1648384 semapv:UnspecifiedMatching MONDO:0020628 microcephaly, growth restriction, and increased sister chromatid exchange 2 skos:exactMatch OMIM:618097 microcephaly, growth restriction, and increased sister chromatid exchange 2 semapv:UnspecifiedMatching MONDO:0020628 microcephaly, growth restriction, and increased sister chromatid exchange 2 skos:exactMatch UMLS:C4748176 semapv:UnspecifiedMatching MONDO:0020629 microcephaly, growth restriction and increased sister chromatid exchange skos:exactMatch OMIMPS:210900 Microcephaly, growth restriction and increased sister chromatid exchange semapv:UnspecifiedMatching MONDO:0020630 developmental and epileptic encephalopathy 91 skos:exactMatch DOID:0080472 developmental and epileptic encephalopathy 91 semapv:UnspecifiedMatching MONDO:0020630 developmental and epileptic encephalopathy 91 skos:exactMatch MEDGEN:1626137 semapv:UnspecifiedMatching MONDO:0020630 developmental and epileptic encephalopathy 91 skos:exactMatch OMIM:617711 developmental and epileptic encephalopathy 91 semapv:UnspecifiedMatching MONDO:0020630 developmental and epileptic encephalopathy 91 skos:exactMatch UMLS:C4540199 semapv:UnspecifiedMatching MONDO:0020631 developmental and epileptic encephalopathy 92 skos:exactMatch DOID:0080471 developmental and epileptic encephalopathy 92 semapv:UnspecifiedMatching MONDO:0020631 developmental and epileptic encephalopathy 92 skos:exactMatch MEDGEN:1638319 semapv:UnspecifiedMatching MONDO:0020631 developmental and epileptic encephalopathy 92 skos:exactMatch OMIM:617829 developmental and epileptic encephalopathy 92 semapv:UnspecifiedMatching MONDO:0020631 developmental and epileptic encephalopathy 92 skos:exactMatch UMLS:C4693362 semapv:UnspecifiedMatching MONDO:0020632 developmental and epileptic encephalopathy 93 skos:exactMatch DOID:0112275 developmental and epileptic encephalopathy 93 semapv:UnspecifiedMatching MONDO:0020632 developmental and epileptic encephalopathy 93 skos:exactMatch MEDGEN:1642888 semapv:UnspecifiedMatching MONDO:0020632 developmental and epileptic encephalopathy 93 skos:exactMatch OMIM:618012 developmental and epileptic encephalopathy 93 semapv:UnspecifiedMatching MONDO:0020632 developmental and epileptic encephalopathy 93 skos:exactMatch UMLS:C4693934 semapv:UnspecifiedMatching MONDO:0020633 anaplastic cancer skos:exactMatch MEDGEN:231373 semapv:UnspecifiedMatching MONDO:0020633 anaplastic cancer skos:exactMatch NCIT:C36025 Anaplastic Malignant Neoplasm semapv:UnspecifiedMatching MONDO:0020633 anaplastic cancer skos:exactMatch UMLS:C1332287 semapv:UnspecifiedMatching MONDO:0020634 grade III meningioma skos:exactMatch MEDGEN:79186 semapv:UnspecifiedMatching MONDO:0020634 grade III meningioma skos:exactMatch NCIT:C38938 Grade 3 Meningioma semapv:UnspecifiedMatching MONDO:0020634 grade III meningioma skos:exactMatch UMLS:C0280801 semapv:UnspecifiedMatching MONDO:0020635 anaplastic meningioma skos:exactMatch MEDGEN:75478 semapv:UnspecifiedMatching MONDO:0020635 anaplastic meningioma skos:exactMatch NCIT:C4051 Anaplastic (Malignant) Meningioma semapv:UnspecifiedMatching MONDO:0020635 anaplastic meningioma skos:exactMatch UMLS:C0259785 semapv:UnspecifiedMatching MONDO:0020638 superficial spreading melanoma skos:exactMatch MEDGEN:87242 semapv:UnspecifiedMatching MONDO:0020638 superficial spreading melanoma skos:exactMatch NCIT:C9152 Low-CSD Melanoma semapv:UnspecifiedMatching MONDO:0020638 superficial spreading melanoma skos:exactMatch SCTID:254730000 semapv:UnspecifiedMatching MONDO:0020638 superficial spreading melanoma skos:exactMatch UMLS:C0334438 semapv:UnspecifiedMatching MONDO:0020638 superficial spreading melanoma skos:exactMatch icd11.foundation:208661037 semapv:UnspecifiedMatching MONDO:0020639 monosomy skos:exactMatch MEDGEN:6432 semapv:UnspecifiedMatching MONDO:0020639 monosomy skos:exactMatch UMLS:C0026499 semapv:UnspecifiedMatching MONDO:0020639 monosomy skos:exactMatch mesh:D009006 semapv:UnspecifiedMatching MONDO:0020640 autoimmune encephalitis skos:exactMatch MEDGEN:1804547 semapv:UnspecifiedMatching MONDO:0020640 autoimmune encephalitis skos:exactMatch NCIT:C122414 Autoimmune Encephalitis semapv:UnspecifiedMatching MONDO:0020640 autoimmune encephalitis skos:exactMatch Orphanet:622014 Autoimmune encephalitis semapv:UnspecifiedMatching MONDO:0020640 autoimmune encephalitis skos:exactMatch SCTID:95643007 semapv:UnspecifiedMatching MONDO:0020640 autoimmune encephalitis skos:exactMatch UMLS:C5671289 semapv:UnspecifiedMatching MONDO:0020640 autoimmune encephalitis skos:exactMatch icd11.foundation:241281019 Autoimmune encephalitis semapv:UnspecifiedMatching MONDO:0020641 respiratory tract neoplasm skos:exactMatch EFO:0003853 semapv:UnspecifiedMatching MONDO:0020641 respiratory tract neoplasm skos:exactMatch MEDGEN:11200 semapv:UnspecifiedMatching MONDO:0020641 respiratory tract neoplasm skos:exactMatch NCIT:C3355 Respiratory System Neoplasm semapv:UnspecifiedMatching MONDO:0020641 respiratory tract neoplasm skos:exactMatch SCTID:126667002 semapv:UnspecifiedMatching MONDO:0020641 respiratory tract neoplasm skos:exactMatch UMLS:C0035244 semapv:UnspecifiedMatching MONDO:0020641 respiratory tract neoplasm skos:exactMatch mesh:D012142 semapv:UnspecifiedMatching MONDO:0020642 polycystic kidney disease skos:exactMatch DOID:0080322 polycystic kidney disease semapv:UnspecifiedMatching MONDO:0020642 polycystic kidney disease skos:exactMatch EFO:0008620 semapv:UnspecifiedMatching MONDO:0020642 polycystic kidney disease skos:exactMatch MEDGEN:9639 semapv:UnspecifiedMatching MONDO:0020642 polycystic kidney disease skos:exactMatch NCIT:C75464 Polycystic Kidney Disease semapv:UnspecifiedMatching MONDO:0020642 polycystic kidney disease skos:exactMatch OMIMPS:173900 Polycystic kidney disease semapv:UnspecifiedMatching MONDO:0020642 polycystic kidney disease skos:exactMatch SCTID:82525005 semapv:UnspecifiedMatching MONDO:0020642 polycystic kidney disease skos:exactMatch UMLS:C0022680 semapv:UnspecifiedMatching MONDO:0020642 polycystic kidney disease skos:exactMatch mesh:D007690 semapv:UnspecifiedMatching MONDO:0020644 lung non-Hodgkin lymphoma skos:exactMatch MEDGEN:235267 semapv:UnspecifiedMatching MONDO:0020644 lung non-Hodgkin lymphoma skos:exactMatch NCIT:C5684 Lung Non-Hodgkin Lymphoma semapv:UnspecifiedMatching MONDO:0020644 lung non-Hodgkin lymphoma skos:exactMatch UMLS:C1334453 semapv:UnspecifiedMatching MONDO:0020645 autosomal dominant osteopetrosis skos:exactMatch MEDGEN:1378401 semapv:UnspecifiedMatching MONDO:0020645 autosomal dominant osteopetrosis skos:exactMatch NCIT:C129732 Autosomal Dominant Osteopetrosis semapv:UnspecifiedMatching MONDO:0020645 autosomal dominant osteopetrosis skos:exactMatch OMIMPS:607634 Osteopetrosis, autosomal dominant semapv:UnspecifiedMatching MONDO:0020645 autosomal dominant osteopetrosis skos:exactMatch UMLS:C4272579 semapv:UnspecifiedMatching MONDO:0020646 ocular adnexal lymphoma skos:exactMatch MEDGEN:453939 semapv:UnspecifiedMatching MONDO:0020646 ocular adnexal lymphoma skos:exactMatch NCIT:C88145 Ocular Adnexal Non-Hodgkin Lymphoma semapv:UnspecifiedMatching MONDO:0020646 ocular adnexal lymphoma skos:exactMatch UMLS:C2981712 semapv:UnspecifiedMatching MONDO:0020647 microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome skos:exactMatch MEDGEN:1648412 semapv:UnspecifiedMatching MONDO:0020647 microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome skos:exactMatch OMIM:618142 microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome semapv:UnspecifiedMatching MONDO:0020647 microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome skos:exactMatch UMLS:C4748348 semapv:UnspecifiedMatching MONDO:0020648 rubella encephalitis skos:exactMatch ICD10CM:B06.01 Rubella encephalitis semapv:UnspecifiedMatching MONDO:0020648 rubella encephalitis skos:exactMatch MEDGEN:536765 semapv:UnspecifiedMatching MONDO:0020648 rubella encephalitis skos:exactMatch SCTID:192689006 semapv:UnspecifiedMatching MONDO:0020648 rubella encephalitis skos:exactMatch UMLS:C0238099 semapv:UnspecifiedMatching MONDO:0020649 warty carcinoma of the penis skos:exactMatch MEDGEN:234997 semapv:UnspecifiedMatching MONDO:0020649 warty carcinoma of the penis skos:exactMatch NCIT:C6981 Penile Warty Carcinoma semapv:UnspecifiedMatching MONDO:0020649 warty carcinoma of the penis skos:exactMatch UMLS:C1337009 semapv:UnspecifiedMatching MONDO:0020650 germ cell tumor of the vulva skos:exactMatch MEDGEN:925540 semapv:UnspecifiedMatching MONDO:0020650 germ cell tumor of the vulva skos:exactMatch NCIT:C128294 Vulvar Germ Cell Tumor semapv:UnspecifiedMatching MONDO:0020650 germ cell tumor of the vulva skos:exactMatch UMLS:C4288008 semapv:UnspecifiedMatching MONDO:0020653 vaginal adenocarcinoma skos:exactMatch MEDGEN:124643 semapv:UnspecifiedMatching MONDO:0020653 vaginal adenocarcinoma skos:exactMatch NCIT:C7981 Vaginal Adenocarcinoma semapv:UnspecifiedMatching MONDO:0020653 vaginal adenocarcinoma skos:exactMatch UMLS:C0279668 semapv:UnspecifiedMatching MONDO:0020654 renal pelvis/ureter urothelial carcinoma skos:exactMatch NCIT:C7716 Renal Pelvis and Ureter Urothelial Carcinoma semapv:UnspecifiedMatching MONDO:0020654 renal pelvis/ureter urothelial carcinoma skos:exactMatch Orphanet:598216 Upper tract urothelial carcinoma semapv:UnspecifiedMatching MONDO:0020655 juvenile ankylosing spondylitis skos:exactMatch DOID:0040092 juvenile ankylosing spondylitis semapv:UnspecifiedMatching MONDO:0020655 juvenile ankylosing spondylitis skos:exactMatch ICD10CM:M08.1 Juvenile ankylosing spondylitis semapv:UnspecifiedMatching MONDO:0020655 juvenile ankylosing spondylitis skos:exactMatch MEDGEN:592563 semapv:UnspecifiedMatching MONDO:0020655 juvenile ankylosing spondylitis skos:exactMatch SCTID:239805001 semapv:UnspecifiedMatching MONDO:0020655 juvenile ankylosing spondylitis skos:exactMatch UMLS:C0409675 semapv:UnspecifiedMatching MONDO:0020656 human papillomavirus-related penile squamous cell carcinoma skos:exactMatch MEDGEN:235178 semapv:UnspecifiedMatching MONDO:0020656 human papillomavirus-related penile squamous cell carcinoma skos:exactMatch NCIT:C27682 Human Papillomavirus-Related Penile Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0020656 human papillomavirus-related penile squamous cell carcinoma skos:exactMatch UMLS:C1334056 semapv:UnspecifiedMatching MONDO:0020657 human papillomavirus-related squamous cell carcinoma skos:exactMatch MEDGEN:272726 semapv:UnspecifiedMatching MONDO:0020657 human papillomavirus-related squamous cell carcinoma skos:exactMatch NCIT:C27683 Human Papillomavirus-Related Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0020657 human papillomavirus-related squamous cell carcinoma skos:exactMatch UMLS:C1334057 semapv:UnspecifiedMatching MONDO:0020658 infiltrating ureter transitional cell carcinoma skos:exactMatch DOID:6845 infiltrating ureter transitional cell carcinoma semapv:UnspecifiedMatching MONDO:0020660 osteoblastic osteosarcoma skos:exactMatch MEDGEN:312376 semapv:UnspecifiedMatching MONDO:0020660 osteoblastic osteosarcoma skos:exactMatch NCIT:C53953 Osteoblastic Osteosarcoma semapv:UnspecifiedMatching MONDO:0020660 osteoblastic osteosarcoma skos:exactMatch UMLS:C1704328 semapv:UnspecifiedMatching MONDO:0020661 undifferentiated round cell sarcoma skos:exactMatch MEDGEN:885673 semapv:UnspecifiedMatching MONDO:0020661 undifferentiated round cell sarcoma skos:exactMatch NCIT:C121799 Undifferentiated Round Cell Sarcoma semapv:UnspecifiedMatching MONDO:0020661 undifferentiated round cell sarcoma skos:exactMatch UMLS:C4048304 semapv:UnspecifiedMatching MONDO:0020662 borderline ovarian serous tumor skos:exactMatch EFO:1000139 semapv:UnspecifiedMatching MONDO:0020662 borderline ovarian serous tumor skos:exactMatch MEDGEN:231957 semapv:UnspecifiedMatching MONDO:0020662 borderline ovarian serous tumor skos:exactMatch NCIT:C5226 Borderline Ovarian Serous Tumor semapv:UnspecifiedMatching MONDO:0020662 borderline ovarian serous tumor skos:exactMatch UMLS:C1332598 semapv:UnspecifiedMatching MONDO:0020663 malignant spindle cell neoplasm skos:exactMatch MEDGEN:90746 semapv:UnspecifiedMatching MONDO:0020663 malignant spindle cell neoplasm skos:exactMatch NCIT:C27091 Malignant Spindle Cell Neoplasm semapv:UnspecifiedMatching MONDO:0020663 malignant spindle cell neoplasm skos:exactMatch UMLS:C0334230 semapv:UnspecifiedMatching MONDO:0020664 spindle cell neoplasm skos:exactMatch EFO:0000705 semapv:UnspecifiedMatching MONDO:0020664 spindle cell neoplasm skos:exactMatch MEDGEN:234806 semapv:UnspecifiedMatching MONDO:0020664 spindle cell neoplasm skos:exactMatch NCIT:C27263 Spindle Cell Neoplasm semapv:UnspecifiedMatching MONDO:0020664 spindle cell neoplasm skos:exactMatch UMLS:C1336052 semapv:UnspecifiedMatching MONDO:0020665 high grade malignant neoplasm skos:exactMatch MEDGEN:234350 semapv:UnspecifiedMatching MONDO:0020665 high grade malignant neoplasm skos:exactMatch NCIT:C36046 High Grade Malignant Neoplasm semapv:UnspecifiedMatching MONDO:0020665 high grade malignant neoplasm skos:exactMatch UMLS:C1334017 semapv:UnspecifiedMatching MONDO:0020666 Löfgren syndrome skos:exactMatch MEDGEN:573580 semapv:UnspecifiedMatching MONDO:0020666 Löfgren syndrome skos:exactMatch SCTID:238676008 semapv:UnspecifiedMatching MONDO:0020666 Löfgren syndrome skos:exactMatch UMLS:C0340164 semapv:UnspecifiedMatching MONDO:0020667 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis skos:exactMatch DOID:0081290 Antley-Bixler syndrome without disordered steroidogenesis semapv:UnspecifiedMatching MONDO:0020667 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis skos:exactMatch MEDGEN:422448 semapv:UnspecifiedMatching MONDO:0020667 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis skos:exactMatch OMIM:207410 antley-bixler syndrome without genital anomalies or disordered steroidogenesis semapv:UnspecifiedMatching MONDO:0020667 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis skos:exactMatch Orphanet:596008 Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis semapv:UnspecifiedMatching MONDO:0020667 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis skos:exactMatch UMLS:C2936791 semapv:UnspecifiedMatching MONDO:0020668 obsolete spastic paraplegia 5B skos:exactMatch OMIM:600146 semapv:UnspecifiedMatching MONDO:0020669 paranasal sinus cancer skos:exactMatch MEDGEN:56305 semapv:UnspecifiedMatching MONDO:0020669 paranasal sinus cancer skos:exactMatch NCIT:C7487 Malignant Paranasal Sinus Neoplasm semapv:UnspecifiedMatching MONDO:0020669 paranasal sinus cancer skos:exactMatch UMLS:C0153474 semapv:UnspecifiedMatching MONDO:0020670 obsolete antithrombin deficiency type 2 skos:exactMatch mesh:C537779 semapv:UnspecifiedMatching MONDO:0020671 obsolete susceptibility to ischemic stroke skos:exactMatch OMIM:601367 stroke, ischemic semapv:UnspecifiedMatching MONDO:0020673 arterial occlusion skos:exactMatch MEDGEN:78117 semapv:UnspecifiedMatching MONDO:0020673 arterial occlusion skos:exactMatch NCIT:C35318 Arterial Occlusion semapv:UnspecifiedMatching MONDO:0020673 arterial occlusion skos:exactMatch UMLS:C0264995 semapv:UnspecifiedMatching MONDO:0020674 vascular insufficiency disorder skos:exactMatch MEDGEN:534461 semapv:UnspecifiedMatching MONDO:0020674 vascular insufficiency disorder skos:exactMatch SCTID:86341008 semapv:UnspecifiedMatching MONDO:0020674 vascular insufficiency disorder skos:exactMatch UMLS:C0232352 semapv:UnspecifiedMatching MONDO:0020675 ischemic bowel disorder skos:exactMatch MEDGEN:412148 semapv:UnspecifiedMatching MONDO:0020675 ischemic bowel disorder skos:exactMatch NCIT:C35212 Ischemic Bowel Disease semapv:UnspecifiedMatching MONDO:0020675 ischemic bowel disorder skos:exactMatch UMLS:C2004435 semapv:UnspecifiedMatching MONDO:0020677 sudden hearing loss disorder skos:exactMatch MEDGEN:41426 semapv:UnspecifiedMatching MONDO:0020677 sudden hearing loss disorder skos:exactMatch SCTID:79471008 semapv:UnspecifiedMatching MONDO:0020677 sudden hearing loss disorder skos:exactMatch UMLS:C0011057 semapv:UnspecifiedMatching MONDO:0020678 sensorineural hearing loss disorder skos:exactMatch DOID:10003 sensorineural hearing loss semapv:UnspecifiedMatching MONDO:0020678 sensorineural hearing loss disorder skos:exactMatch EFO:1001176 semapv:UnspecifiedMatching MONDO:0020678 sensorineural hearing loss disorder skos:exactMatch MEDGEN:9164 semapv:UnspecifiedMatching MONDO:0020678 sensorineural hearing loss disorder skos:exactMatch NCIT:C26739 Sensorineural Hearing Loss semapv:UnspecifiedMatching MONDO:0020678 sensorineural hearing loss disorder skos:exactMatch SCTID:60700002 semapv:UnspecifiedMatching MONDO:0020678 sensorineural hearing loss disorder skos:exactMatch UMLS:C0018784 semapv:UnspecifiedMatching MONDO:0020679 conductive hearing loss disorder skos:exactMatch MEDGEN:9163 semapv:UnspecifiedMatching MONDO:0020679 conductive hearing loss disorder skos:exactMatch NCIT:C27645 Conductive Hearing Loss semapv:UnspecifiedMatching MONDO:0020679 conductive hearing loss disorder skos:exactMatch SCTID:44057004 semapv:UnspecifiedMatching MONDO:0020679 conductive hearing loss disorder skos:exactMatch UMLS:C0018777 semapv:UnspecifiedMatching MONDO:0020680 acute bronchiolitis skos:exactMatch ICD10CM:J21 Acute bronchiolitis semapv:UnspecifiedMatching MONDO:0020680 acute bronchiolitis skos:exactMatch ICD10WHO:J21 Acute bronchiolitis semapv:UnspecifiedMatching MONDO:0020680 acute bronchiolitis skos:exactMatch MEDGEN:113 semapv:UnspecifiedMatching MONDO:0020680 acute bronchiolitis skos:exactMatch NCIT:C39659 Acute Bronchiolitis semapv:UnspecifiedMatching MONDO:0020680 acute bronchiolitis skos:exactMatch SCTID:5505005 semapv:UnspecifiedMatching MONDO:0020680 acute bronchiolitis skos:exactMatch UMLS:C0001311 semapv:UnspecifiedMatching MONDO:0020680 acute bronchiolitis skos:exactMatch icd11.foundation:1310075986 Acute bronchiolitis semapv:UnspecifiedMatching MONDO:0020681 Ehlers-Danlos syndrome, musculocontractural type 1 skos:exactMatch DOID:0080736 Ehlers-Danlos syndrome musculocontractural type 1 semapv:UnspecifiedMatching MONDO:0020681 Ehlers-Danlos syndrome, musculocontractural type 1 skos:exactMatch NCIT:C168975 Ehlers-Danlos Syndrome, Musculocontractural Type 1 semapv:UnspecifiedMatching MONDO:0020681 Ehlers-Danlos syndrome, musculocontractural type 1 skos:exactMatch OMIM:601776 ehlers-danlos syndrome, musculocontractural type, 1 semapv:UnspecifiedMatching MONDO:0020682 Ehlers-Danlos syndrome, spondylodysplastic type, 1 skos:exactMatch DOID:0080738 Ehlers-Danlos syndrome spondylodysplastic type 1 semapv:UnspecifiedMatching MONDO:0020682 Ehlers-Danlos syndrome, spondylodysplastic type, 1 skos:exactMatch MEDGEN:1646889 semapv:UnspecifiedMatching MONDO:0020682 Ehlers-Danlos syndrome, spondylodysplastic type, 1 skos:exactMatch OMIM:130070 ehlers-danlos syndrome, spondylodysplastic type, 1 semapv:UnspecifiedMatching MONDO:0020682 Ehlers-Danlos syndrome, spondylodysplastic type, 1 skos:exactMatch UMLS:C4552003 semapv:UnspecifiedMatching MONDO:0020683 acute disease skos:exactMatch MEDGEN:1738 semapv:UnspecifiedMatching MONDO:0020683 acute disease skos:exactMatch SCTID:2704003 semapv:UnspecifiedMatching MONDO:0020683 acute disease skos:exactMatch UMLS:C0001314 semapv:UnspecifiedMatching MONDO:0020683 acute disease skos:exactMatch mesh:D000208 semapv:UnspecifiedMatching MONDO:0020684 Ehlers-Danlos syndrome, periodontal type 1 skos:exactMatch DOID:0080986 Ehlers-Danlos syndrome periodontal type 1 semapv:UnspecifiedMatching MONDO:0020684 Ehlers-Danlos syndrome, periodontal type 1 skos:exactMatch MEDGEN:1642148 semapv:UnspecifiedMatching MONDO:0020684 Ehlers-Danlos syndrome, periodontal type 1 skos:exactMatch OMIM:130080 ehlers-danlos syndrome, periodontal type, 1 semapv:UnspecifiedMatching MONDO:0020684 Ehlers-Danlos syndrome, periodontal type 1 skos:exactMatch UMLS:C4551499 semapv:UnspecifiedMatching MONDO:0020685 infratentorial ependymal tumor skos:exactMatch MEDGEN:1385705 semapv:UnspecifiedMatching MONDO:0020685 infratentorial ependymal tumor skos:exactMatch NCIT:C131612 Infratentorial Ependymal Tumor semapv:UnspecifiedMatching MONDO:0020685 infratentorial ependymal tumor skos:exactMatch UMLS:C4330489 semapv:UnspecifiedMatching MONDO:0020686 acute tonsillitis skos:exactMatch ICD10CM:J03 Acute tonsillitis semapv:UnspecifiedMatching MONDO:0020686 acute tonsillitis skos:exactMatch ICD10WHO:J03 Acute tonsillitis semapv:UnspecifiedMatching MONDO:0020686 acute tonsillitis skos:exactMatch MEDGEN:472878 semapv:UnspecifiedMatching MONDO:0020686 acute tonsillitis skos:exactMatch NCIT:C97142 Acute Tonsillitis semapv:UnspecifiedMatching MONDO:0020686 acute tonsillitis skos:exactMatch SCTID:17741008 semapv:UnspecifiedMatching MONDO:0020686 acute tonsillitis skos:exactMatch UMLS:C0001361 semapv:UnspecifiedMatching MONDO:0020686 acute tonsillitis skos:exactMatch icd11.foundation:260431605 Acute tonsillitis semapv:UnspecifiedMatching MONDO:0020687 supratentorial ependymal tumor skos:exactMatch MEDGEN:1379596 semapv:UnspecifiedMatching MONDO:0020687 supratentorial ependymal tumor skos:exactMatch NCIT:C131611 Supratentorial Ependymal Tumor semapv:UnspecifiedMatching MONDO:0020687 supratentorial ependymal tumor skos:exactMatch UMLS:C4331360 semapv:UnspecifiedMatching MONDO:0020688 spinal cord ischemia skos:exactMatch EFO:1001426 semapv:UnspecifiedMatching MONDO:0020688 spinal cord ischemia skos:exactMatch MEDGEN:155706 semapv:UnspecifiedMatching MONDO:0020688 spinal cord ischemia skos:exactMatch UMLS:C0752130 semapv:UnspecifiedMatching MONDO:0020688 spinal cord ischemia skos:exactMatch mesh:D020760 semapv:UnspecifiedMatching MONDO:0020689 AIDS dementia complex skos:exactMatch EFO:0002608 semapv:UnspecifiedMatching MONDO:0020689 AIDS dementia complex skos:exactMatch MEDGEN:177 semapv:UnspecifiedMatching MONDO:0020689 AIDS dementia complex skos:exactMatch NCIT:C2864 AIDS Dementia semapv:UnspecifiedMatching MONDO:0020689 AIDS dementia complex skos:exactMatch SCTID:421529006 semapv:UnspecifiedMatching MONDO:0020689 AIDS dementia complex skos:exactMatch UMLS:C0001849 semapv:UnspecifiedMatching MONDO:0020689 AIDS dementia complex skos:exactMatch mesh:D015526 semapv:UnspecifiedMatching MONDO:0020690 adult glioblastoma skos:exactMatch MEDGEN:124527 semapv:UnspecifiedMatching MONDO:0020690 adult glioblastoma skos:exactMatch NCIT:C9094 Adult Glioblastoma semapv:UnspecifiedMatching MONDO:0020690 adult glioblastoma skos:exactMatch UMLS:C0278878 semapv:UnspecifiedMatching MONDO:0020692 spondylocostal dysostosis 1, autosomal recessive skos:exactMatch DOID:0112365 spondylocostal dysostosis 1 semapv:UnspecifiedMatching MONDO:0020692 spondylocostal dysostosis 1, autosomal recessive skos:exactMatch OMIM:277300 spondylocostal dysostosis 1, autosomal recessive semapv:UnspecifiedMatching MONDO:0020693 glycogen storage disease due to liver phosphorylase kinase deficiency skos:exactMatch Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency semapv:UnspecifiedMatching MONDO:0020694 salivary gland epithelial myoepithelial carcinoma skos:exactMatch MEDGEN:234769 semapv:UnspecifiedMatching MONDO:0020694 salivary gland epithelial myoepithelial carcinoma skos:exactMatch NCIT:C35701 Salivary Gland Epithelial-Myoepithelial Carcinoma semapv:UnspecifiedMatching MONDO:0020694 salivary gland epithelial myoepithelial carcinoma skos:exactMatch UMLS:C1335900 semapv:UnspecifiedMatching MONDO:0020695 hypotonic cerebral palsy skos:exactMatch MEDGEN:98296 semapv:UnspecifiedMatching MONDO:0020695 hypotonic cerebral palsy skos:exactMatch NCIT:C116906 Hypotonic Cerebral Palsy semapv:UnspecifiedMatching MONDO:0020695 hypotonic cerebral palsy skos:exactMatch SCTID:192958009 semapv:UnspecifiedMatching MONDO:0020695 hypotonic cerebral palsy skos:exactMatch UMLS:C0394007 semapv:UnspecifiedMatching MONDO:0020696 vitamin B12 deficiency skos:exactMatch EFO:0000734 semapv:UnspecifiedMatching MONDO:0020696 vitamin B12 deficiency skos:exactMatch MEDGEN:21880 semapv:UnspecifiedMatching MONDO:0020696 vitamin B12 deficiency skos:exactMatch NCIT:C131684 Vitamin B12 Deficiency semapv:UnspecifiedMatching MONDO:0020696 vitamin B12 deficiency skos:exactMatch SCTID:190634004 semapv:UnspecifiedMatching MONDO:0020696 vitamin B12 deficiency skos:exactMatch UMLS:C0042847 semapv:UnspecifiedMatching MONDO:0020696 vitamin B12 deficiency skos:exactMatch icd11.foundation:1366882206 Vitamin B12 deficiency semapv:UnspecifiedMatching MONDO:0020696 vitamin B12 deficiency skos:exactMatch mesh:D014806 semapv:UnspecifiedMatching MONDO:0020697 lung epithelial-myoepithelial carcinoma skos:exactMatch MEDGEN:353868 semapv:UnspecifiedMatching MONDO:0020697 lung epithelial-myoepithelial carcinoma skos:exactMatch NCIT:C45545 Lung Epithelial-Myoepithelial Carcinoma semapv:UnspecifiedMatching MONDO:0020697 lung epithelial-myoepithelial carcinoma skos:exactMatch UMLS:C1708770 semapv:UnspecifiedMatching MONDO:0020699 biotin metabolic disease skos:exactMatch MEDGEN:754289 semapv:UnspecifiedMatching MONDO:0020699 biotin metabolic disease skos:exactMatch UMLS:C2937225 semapv:UnspecifiedMatching MONDO:0020702 autosomal dominant epidermolytic ichthyosis skos:exactMatch NCIT:C62569 Epidermolytic Ichthyosis semapv:UnspecifiedMatching MONDO:0020702 autosomal dominant epidermolytic ichthyosis skos:exactMatch Orphanet:312 Autosomal dominant epidermolytic ichthyosis semapv:UnspecifiedMatching MONDO:0020703 erythroid neoplasm skos:exactMatch MEDGEN:272584 semapv:UnspecifiedMatching MONDO:0020703 erythroid neoplasm skos:exactMatch NCIT:C7064 Erythroid Neoplasm semapv:UnspecifiedMatching MONDO:0020703 erythroid neoplasm skos:exactMatch UMLS:C1333438 semapv:UnspecifiedMatching MONDO:0020705 neural tube defects, susceptibility to skos:exactMatch MEDGEN:856010 semapv:UnspecifiedMatching MONDO:0020705 neural tube defects, susceptibility to skos:exactMatch OMIM:182940 neural tube defects, susceptibility to semapv:UnspecifiedMatching MONDO:0020705 neural tube defects, susceptibility to skos:exactMatch UMLS:C3891448 semapv:UnspecifiedMatching MONDO:0020706 Heberden's node skos:exactMatch MEDGEN:6761 semapv:UnspecifiedMatching MONDO:0020706 Heberden's node skos:exactMatch NCIT:C34671 Heberden's Node semapv:UnspecifiedMatching MONDO:0020706 Heberden's node skos:exactMatch SCTID:239869009 semapv:UnspecifiedMatching MONDO:0020706 Heberden's node skos:exactMatch UMLS:C0018862 semapv:UnspecifiedMatching MONDO:0020707 central hearing loss skos:exactMatch MEDGEN:9162 semapv:UnspecifiedMatching MONDO:0020707 central hearing loss skos:exactMatch NCIT:C34662 Central Hearing Loss semapv:UnspecifiedMatching MONDO:0020707 central hearing loss skos:exactMatch UMLS:C0018776 semapv:UnspecifiedMatching MONDO:0020707 central hearing loss skos:exactMatch icd11.foundation:1513090105 Central hearing loss semapv:UnspecifiedMatching MONDO:0020708 brachial amyotrophic diplegia skos:exactMatch MEDGEN:1617621 semapv:UnspecifiedMatching MONDO:0020708 brachial amyotrophic diplegia skos:exactMatch NCIT:C133085 Brachial Amyotrophic Diplegia semapv:UnspecifiedMatching MONDO:0020708 brachial amyotrophic diplegia skos:exactMatch UMLS:C4522181 semapv:UnspecifiedMatching MONDO:0020709 Majocchi granuloma skos:exactMatch MEDGEN:702632 semapv:UnspecifiedMatching MONDO:0020709 Majocchi granuloma skos:exactMatch UMLS:C1279621 semapv:UnspecifiedMatching MONDO:0020710 amnionitis skos:exactMatch MEDGEN:1490 semapv:UnspecifiedMatching MONDO:0020710 amnionitis skos:exactMatch NCIT:C50459 Amnionitis semapv:UnspecifiedMatching MONDO:0020710 amnionitis skos:exactMatch SCTID:10573002 semapv:UnspecifiedMatching MONDO:0020710 amnionitis skos:exactMatch UMLS:C0002631 semapv:UnspecifiedMatching MONDO:0020712 46,XY sex reversal 1 skos:exactMatch DOID:0111778 46,XY sex reversal 1 semapv:UnspecifiedMatching MONDO:0020712 46,XY sex reversal 1 skos:exactMatch MEDGEN:412662 semapv:UnspecifiedMatching MONDO:0020712 46,XY sex reversal 1 skos:exactMatch NCIT:C128188 46,XY Sex Reversal 1 semapv:UnspecifiedMatching MONDO:0020712 46,XY sex reversal 1 skos:exactMatch OMIM:400044 46,xy sex reversal 1 semapv:UnspecifiedMatching MONDO:0020712 46,XY sex reversal 1 skos:exactMatch UMLS:C2748896 semapv:UnspecifiedMatching MONDO:0020713 pulmonary venoocclusive disease 1 skos:exactMatch DOID:0081268 pulmonary venoocclusive disease 1 semapv:UnspecifiedMatching MONDO:0020713 pulmonary venoocclusive disease 1 skos:exactMatch MEDGEN:854500 semapv:UnspecifiedMatching MONDO:0020713 pulmonary venoocclusive disease 1 skos:exactMatch OMIM:265450 pulmonary venoocclusive disease 1, autosomal dominant semapv:UnspecifiedMatching MONDO:0020713 pulmonary venoocclusive disease 1 skos:exactMatch UMLS:C3887658 semapv:UnspecifiedMatching MONDO:0020714 mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy skos:exactMatch MEDGEN:1679560 semapv:UnspecifiedMatching MONDO:0020714 mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy skos:exactMatch OMIM:251900 mitochondrial myopathy, episodic, with or without optic atrophy and reversible leukoencephalopathy semapv:UnspecifiedMatching MONDO:0020714 mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy skos:exactMatch UMLS:C5193223 semapv:UnspecifiedMatching MONDO:0020715 multiple system atrophy 1, susceptibility to skos:exactMatch MEDGEN:811503 semapv:UnspecifiedMatching MONDO:0020715 multiple system atrophy 1, susceptibility to skos:exactMatch OMIM:146500 multiple system atrophy 1, susceptibility to semapv:UnspecifiedMatching MONDO:0020715 multiple system atrophy 1, susceptibility to skos:exactMatch UMLS:C3714927 semapv:UnspecifiedMatching MONDO:0020716 thyroid dyshormonogenesis 1 skos:exactMatch DOID:0112185 thyroid dyshormonogenesis 1 semapv:UnspecifiedMatching MONDO:0020716 thyroid dyshormonogenesis 1 skos:exactMatch MEDGEN:336422 semapv:UnspecifiedMatching MONDO:0020716 thyroid dyshormonogenesis 1 skos:exactMatch OMIM:274400 thyroid dyshormonogenesis 1 semapv:UnspecifiedMatching MONDO:0020716 thyroid dyshormonogenesis 1 skos:exactMatch UMLS:C1848805 semapv:UnspecifiedMatching MONDO:0020717 autosomal dominant wooly hair skos:exactMatch DOID:0111573 autosomal dominant woolly hair semapv:UnspecifiedMatching MONDO:0020717 autosomal dominant wooly hair skos:exactMatch MEDGEN:348571 semapv:UnspecifiedMatching MONDO:0020717 autosomal dominant wooly hair skos:exactMatch OMIM:194300 woolly hair, autosomal dominant semapv:UnspecifiedMatching MONDO:0020717 autosomal dominant wooly hair skos:exactMatch UMLS:C1860238 semapv:UnspecifiedMatching MONDO:0020718 congenital short bowel syndrome, autosomal recessive skos:exactMatch OMIM:615237 congenital short bowel syndrome semapv:UnspecifiedMatching MONDO:0020720 X-linked hypophosphatemic rickets skos:exactMatch MEDGEN:761927 semapv:UnspecifiedMatching MONDO:0020720 X-linked hypophosphatemic rickets skos:exactMatch UMLS:C3540852 semapv:UnspecifiedMatching MONDO:0020720 X-linked hypophosphatemic rickets skos:exactMatch icd11.foundation:1169135980 X-linked hypophosphatemic rickets semapv:UnspecifiedMatching MONDO:0020720 X-linked hypophosphatemic rickets skos:exactMatch mesh:D053098 semapv:UnspecifiedMatching MONDO:0020721 X-linked sideroblastic anemia 1 skos:exactMatch DOID:0060063 sideroblastic anemia 1 semapv:UnspecifiedMatching MONDO:0020721 X-linked sideroblastic anemia 1 skos:exactMatch MEDGEN:1638704 semapv:UnspecifiedMatching MONDO:0020721 X-linked sideroblastic anemia 1 skos:exactMatch OMIM:300751 anemia, sideroblastic, 1 semapv:UnspecifiedMatching MONDO:0020721 X-linked sideroblastic anemia 1 skos:exactMatch Orphanet:75563 X-linked sideroblastic anemia semapv:UnspecifiedMatching MONDO:0020721 X-linked sideroblastic anemia 1 skos:exactMatch SCTID:62677000 semapv:UnspecifiedMatching MONDO:0020721 X-linked sideroblastic anemia 1 skos:exactMatch UMLS:C4551511 semapv:UnspecifiedMatching MONDO:0020721 X-linked sideroblastic anemia 1 skos:exactMatch mesh:C536761 semapv:UnspecifiedMatching MONDO:0020722 nephrolithiasis susceptibility caused by SLC26A1 skos:exactMatch DOID:0080652 calcium oxalate nephrolithiasis semapv:UnspecifiedMatching MONDO:0020722 nephrolithiasis susceptibility caused by SLC26A1 skos:exactMatch MEDGEN:1830325 semapv:UnspecifiedMatching MONDO:0020722 nephrolithiasis susceptibility caused by SLC26A1 skos:exactMatch OMIM:167030 nephrolithiasis, calcium oxalate, 1 semapv:UnspecifiedMatching MONDO:0020722 nephrolithiasis susceptibility caused by SLC26A1 skos:exactMatch UMLS:C5779632 semapv:UnspecifiedMatching MONDO:0020723 vitamin D-dependent rickets, type 1A skos:exactMatch DOID:0080886 vitamin D-dependent rickets type 1A semapv:UnspecifiedMatching MONDO:0020723 vitamin D-dependent rickets, type 1A skos:exactMatch OMIM:264700 vitamin d hydroxylation-deficient rickets, type 1a semapv:UnspecifiedMatching MONDO:0020724 cerebral cavernous malformation 1 skos:exactMatch DOID:0080491 cerebral cavernous malformation 1 semapv:UnspecifiedMatching MONDO:0020724 cerebral cavernous malformation 1 skos:exactMatch MEDGEN:237128 semapv:UnspecifiedMatching MONDO:0020724 cerebral cavernous malformation 1 skos:exactMatch OMIM:116860 cerebral cavernous malformations semapv:UnspecifiedMatching MONDO:0020724 cerebral cavernous malformation 1 skos:exactMatch UMLS:C1366911 semapv:UnspecifiedMatching MONDO:0020725 anemia due to chronic disorder skos:exactMatch MEDGEN:507442 semapv:UnspecifiedMatching MONDO:0020725 anemia due to chronic disorder skos:exactMatch NCIT:C35659 Anemia due to Chronic Disorder semapv:UnspecifiedMatching MONDO:0020725 anemia due to chronic disorder skos:exactMatch SCTID:234347009 semapv:UnspecifiedMatching MONDO:0020725 anemia due to chronic disorder skos:exactMatch UMLS:C0002873 semapv:UnspecifiedMatching MONDO:0020726 tubulointerstitial kidney disease, autosomal dominant, 2 skos:exactMatch DOID:0061118 autosomal dominant tubulointerstitial kidney disease 2 semapv:UnspecifiedMatching MONDO:0020726 tubulointerstitial kidney disease, autosomal dominant, 2 skos:exactMatch MEDGEN:358137 semapv:UnspecifiedMatching MONDO:0020726 tubulointerstitial kidney disease, autosomal dominant, 2 skos:exactMatch NCIT:C123171 Medullary Cystic Kidney Disease Type I semapv:UnspecifiedMatching MONDO:0020726 tubulointerstitial kidney disease, autosomal dominant, 2 skos:exactMatch OMIM:174000 tubulointerstitial kidney disease, autosomal dominant 2 semapv:UnspecifiedMatching MONDO:0020726 tubulointerstitial kidney disease, autosomal dominant, 2 skos:exactMatch Orphanet:88949 MUC1-related autosomal dominant tubulointerstitial kidney disease semapv:UnspecifiedMatching MONDO:0020726 tubulointerstitial kidney disease, autosomal dominant, 2 skos:exactMatch UMLS:C1868139 semapv:UnspecifiedMatching MONDO:0020727 combined oxidative phosphorylation deficiency 22 skos:exactMatch DOID:0111498 combined oxidative phosphorylation deficiency 22 semapv:UnspecifiedMatching MONDO:0020727 combined oxidative phosphorylation deficiency 22 skos:exactMatch MEDGEN:863499 semapv:UnspecifiedMatching MONDO:0020727 combined oxidative phosphorylation deficiency 22 skos:exactMatch OMIM:616045 combined oxidative phosphorylation deficiency 22 semapv:UnspecifiedMatching MONDO:0020727 combined oxidative phosphorylation deficiency 22 skos:exactMatch UMLS:C4015062 semapv:UnspecifiedMatching MONDO:0020728 hypouricemia, renal 1 skos:exactMatch MEDGEN:141632 semapv:UnspecifiedMatching MONDO:0020728 hypouricemia, renal 1 skos:exactMatch OMIM:220150 hypouricemia, renal, 1 semapv:UnspecifiedMatching MONDO:0020728 hypouricemia, renal 1 skos:exactMatch UMLS:C0473219 semapv:UnspecifiedMatching MONDO:0020729 autosomal recessive agammaglobulinemia 1 skos:exactMatch DOID:0081136 agammaglobulinemia 1 semapv:UnspecifiedMatching MONDO:0020729 autosomal recessive agammaglobulinemia 1 skos:exactMatch MEDGEN:463494 semapv:UnspecifiedMatching MONDO:0020729 autosomal recessive agammaglobulinemia 1 skos:exactMatch OMIM:601495 agammaglobulinemia 1, autosomal recessive semapv:UnspecifiedMatching MONDO:0020729 autosomal recessive agammaglobulinemia 1 skos:exactMatch UMLS:C3152144 semapv:UnspecifiedMatching MONDO:0020730 carpal tunnel syndrome 1 skos:exactMatch DOID:0070466 carpal tunnel syndrome 1 semapv:UnspecifiedMatching MONDO:0020730 carpal tunnel syndrome 1 skos:exactMatch MEDGEN:1830382 semapv:UnspecifiedMatching MONDO:0020730 carpal tunnel syndrome 1 skos:exactMatch OMIM:115430 carpal tunnel syndrome 1 semapv:UnspecifiedMatching MONDO:0020730 carpal tunnel syndrome 1 skos:exactMatch UMLS:C5779776 semapv:UnspecifiedMatching MONDO:0020731 arbovirus infection skos:exactMatch EFO:1001269 semapv:UnspecifiedMatching MONDO:0020731 arbovirus infection skos:exactMatch MEDGEN:389 semapv:UnspecifiedMatching MONDO:0020731 arbovirus infection skos:exactMatch NCIT:C34396 Arthropod-Borne Viral Infection semapv:UnspecifiedMatching MONDO:0020731 arbovirus infection skos:exactMatch SCTID:40610006 semapv:UnspecifiedMatching MONDO:0020731 arbovirus infection skos:exactMatch UMLS:C0003723 semapv:UnspecifiedMatching MONDO:0020731 arbovirus infection skos:exactMatch mesh:D001102 semapv:UnspecifiedMatching MONDO:0020733 proximal symphalangism 1A skos:exactMatch DOID:0080787 proximal symphalangism 1 semapv:UnspecifiedMatching MONDO:0020733 proximal symphalangism 1A skos:exactMatch MEDGEN:811492 semapv:UnspecifiedMatching MONDO:0020733 proximal symphalangism 1A skos:exactMatch OMIM:185800 symphalangism, proximal, 1a semapv:UnspecifiedMatching MONDO:0020733 proximal symphalangism 1A skos:exactMatch UMLS:C3714899 semapv:UnspecifiedMatching MONDO:0020734 obsolete erythrocyte AMP deaminase deficiency skos:exactMatch OMIM:612874 erythrocyte amp deaminase deficiency semapv:UnspecifiedMatching MONDO:0020735 ACTH-independent macronodular adrenal hyperplasia 1 skos:exactMatch DOID:0111623 ACTH-independent macronodular adrenal hyperplasia 1 semapv:UnspecifiedMatching MONDO:0020735 ACTH-independent macronodular adrenal hyperplasia 1 skos:exactMatch MEDGEN:347456 semapv:UnspecifiedMatching MONDO:0020735 ACTH-independent macronodular adrenal hyperplasia 1 skos:exactMatch OMIM:219080 acth-independent macronodular adrenal hyperplasia 1 semapv:UnspecifiedMatching MONDO:0020735 ACTH-independent macronodular adrenal hyperplasia 1 skos:exactMatch UMLS:C1857451 semapv:UnspecifiedMatching MONDO:0020736 uncombable hair syndrome 1 skos:exactMatch MEDGEN:1640179 semapv:UnspecifiedMatching MONDO:0020736 uncombable hair syndrome 1 skos:exactMatch OMIM:191480 uncombable hair syndrome 1 semapv:UnspecifiedMatching MONDO:0020736 uncombable hair syndrome 1 skos:exactMatch UMLS:C4551573 semapv:UnspecifiedMatching MONDO:0020737 optic atrophy 10 with or without ataxia, intellectual disability, and seizures skos:exactMatch DOID:0111434 optic atrophy 10 semapv:UnspecifiedMatching MONDO:0020737 optic atrophy 10 with or without ataxia, intellectual disability, and seizures skos:exactMatch MEDGEN:905727 semapv:UnspecifiedMatching MONDO:0020737 optic atrophy 10 with or without ataxia, intellectual disability, and seizures skos:exactMatch OMIM:616732 optic atrophy 10 with or without ataxia, impaired intellectual development, and seizures semapv:UnspecifiedMatching MONDO:0020737 optic atrophy 10 with or without ataxia, intellectual disability, and seizures skos:exactMatch UMLS:C4225227 semapv:UnspecifiedMatching MONDO:0020738 multiple benign circumferential skin creases on limbs 1 skos:exactMatch DOID:0112242 congenital symmetric circumferential skin creases 1 semapv:UnspecifiedMatching MONDO:0020738 multiple benign circumferential skin creases on limbs 1 skos:exactMatch MEDGEN:1631916 semapv:UnspecifiedMatching MONDO:0020738 multiple benign circumferential skin creases on limbs 1 skos:exactMatch OMIM:156610 skin creases, congenital symmetric circumferential, 1 semapv:UnspecifiedMatching MONDO:0020738 multiple benign circumferential skin creases on limbs 1 skos:exactMatch UMLS:C4551592 semapv:UnspecifiedMatching MONDO:0020739 hypercalcemia, infantile, 1 skos:exactMatch DOID:0061136 infantile hypercalcemia 1 semapv:UnspecifiedMatching MONDO:0020739 hypercalcemia, infantile, 1 skos:exactMatch OMIM:143880 hypercalcemia, infantile, 1 semapv:UnspecifiedMatching MONDO:0020740 ectodermal dysplasia and immunodeficiency 1 skos:exactMatch DOID:0081078 ectodermal dysplasia and immunodeficiency 1 semapv:UnspecifiedMatching MONDO:0020740 ectodermal dysplasia and immunodeficiency 1 skos:exactMatch MEDGEN:375787 semapv:UnspecifiedMatching MONDO:0020740 ectodermal dysplasia and immunodeficiency 1 skos:exactMatch NCIT:C176592 Ectodermal Dysplasia and Immunodeficiency 1 semapv:UnspecifiedMatching MONDO:0020740 ectodermal dysplasia and immunodeficiency 1 skos:exactMatch OMIM:300291 ectodermal dysplasia and immunodeficiency 1 semapv:UnspecifiedMatching MONDO:0020740 ectodermal dysplasia and immunodeficiency 1 skos:exactMatch UMLS:C1846008 semapv:UnspecifiedMatching MONDO:0020741 pyridoxine-dependent epilepsy caused by ALDH7A1 mutant skos:exactMatch DOID:0070519 early-onset vitamin B6-dependent epilepsy 4 semapv:UnspecifiedMatching MONDO:0020741 pyridoxine-dependent epilepsy caused by ALDH7A1 mutant skos:exactMatch OMIM:266100 epilepsy, early-onset, 4, vitamin b6-dependent semapv:UnspecifiedMatching MONDO:0020742 obsolete cataract, microcephaly, failure to thrive, kyphoscoliosis syndrome skos:exactMatch OMIM:212540 cataract, microcephaly, failure to thrive, kyphoscoliosis syndrome semapv:UnspecifiedMatching MONDO:0020742 obsolete cataract, microcephaly, failure to thrive, kyphoscoliosis syndrome skos:exactMatch Orphanet:1317 CAMFAK syndrome semapv:UnspecifiedMatching MONDO:0020742 obsolete cataract, microcephaly, failure to thrive, kyphoscoliosis syndrome skos:exactMatch mesh:C537965 semapv:UnspecifiedMatching MONDO:0020743 mixed phenotype acute leukemia skos:exactMatch MEDGEN:417342 semapv:UnspecifiedMatching MONDO:0020743 mixed phenotype acute leukemia skos:exactMatch NCIT:C82179 Mixed Phenotype Acute Leukemia semapv:UnspecifiedMatching MONDO:0020743 mixed phenotype acute leukemia skos:exactMatch Orphanet:530995 Mixed phenotype acute leukemia semapv:UnspecifiedMatching MONDO:0020743 mixed phenotype acute leukemia skos:exactMatch UMLS:C2826025 semapv:UnspecifiedMatching MONDO:0020744 Mobitz type I atrioventricular block skos:exactMatch MEDGEN:82687 semapv:UnspecifiedMatching MONDO:0020744 Mobitz type I atrioventricular block skos:exactMatch NCIT:C62017 AV Block Second Degree Mobitz Type I semapv:UnspecifiedMatching MONDO:0020744 Mobitz type I atrioventricular block skos:exactMatch UMLS:C0264907 semapv:UnspecifiedMatching MONDO:0020745 ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome skos:exactMatch MEDGEN:1781114 semapv:UnspecifiedMatching MONDO:0020745 ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome skos:exactMatch OMIM:115000 ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome semapv:UnspecifiedMatching MONDO:0020745 ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome skos:exactMatch UMLS:C5542154 semapv:UnspecifiedMatching MONDO:0020746 contractures, pterygia, and variable skeletal fusions syndrome 1B skos:exactMatch DOID:0081322 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B semapv:UnspecifiedMatching MONDO:0020746 contractures, pterygia, and variable skeletal fusions syndrome 1B skos:exactMatch MEDGEN:1676457 semapv:UnspecifiedMatching MONDO:0020746 contractures, pterygia, and variable skeletal fusions syndrome 1B skos:exactMatch OMIM:618469 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1b semapv:UnspecifiedMatching MONDO:0020746 contractures, pterygia, and variable skeletal fusions syndrome 1B skos:exactMatch UMLS:C5193114 semapv:UnspecifiedMatching MONDO:0020747 sitosterolemia 1 skos:exactMatch DOID:0070634 sitosterolemia 1 semapv:UnspecifiedMatching MONDO:0020747 sitosterolemia 1 skos:exactMatch MEDGEN:440869 semapv:UnspecifiedMatching MONDO:0020747 sitosterolemia 1 skos:exactMatch OMIM:210250 sitosterolemia 1 semapv:UnspecifiedMatching MONDO:0020747 sitosterolemia 1 skos:exactMatch UMLS:C2749759 semapv:UnspecifiedMatching MONDO:0020748 sitosterolemia 2 skos:exactMatch DOID:0060983 sitosterolemia 2 semapv:UnspecifiedMatching MONDO:0020748 sitosterolemia 2 skos:exactMatch MEDGEN:1684715 semapv:UnspecifiedMatching MONDO:0020748 sitosterolemia 2 skos:exactMatch OMIM:618666 sitosterolemia 2 semapv:UnspecifiedMatching MONDO:0020748 sitosterolemia 2 skos:exactMatch UMLS:C5231453 semapv:UnspecifiedMatching MONDO:0020749 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 skos:exactMatch MEDGEN:1648386 semapv:UnspecifiedMatching MONDO:0020749 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 skos:exactMatch OMIM:221770 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 semapv:UnspecifiedMatching MONDO:0020749 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 skos:exactMatch UMLS:C4721893 semapv:UnspecifiedMatching MONDO:0020750 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 skos:exactMatch MEDGEN:1648374 semapv:UnspecifiedMatching MONDO:0020750 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 skos:exactMatch OMIM:618193 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 semapv:UnspecifiedMatching MONDO:0020750 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 skos:exactMatch UMLS:C4748657 semapv:UnspecifiedMatching MONDO:0020751 orthostatic hypotension 2 skos:exactMatch MEDGEN:1648282 semapv:UnspecifiedMatching MONDO:0020751 orthostatic hypotension 2 skos:exactMatch OMIM:618182 orthostatic hypotension 2 semapv:UnspecifiedMatching MONDO:0020751 orthostatic hypotension 2 skos:exactMatch UMLS:C4748569 semapv:UnspecifiedMatching MONDO:0020752 myoclonic epilepsy, juvenile, susceptibility to, 1 skos:exactMatch MEDGEN:342587 semapv:UnspecifiedMatching MONDO:0020752 myoclonic epilepsy, juvenile, susceptibility to, 1 skos:exactMatch UMLS:C1850778 semapv:UnspecifiedMatching MONDO:0020753 Orthocoronavirinae infectious disease skos:exactMatch DOID:0080599 Coronavirus infectious disease semapv:UnspecifiedMatching MONDO:0020754 visceral myopathy 1 skos:exactMatch MEDGEN:1785391 semapv:UnspecifiedMatching MONDO:0020754 visceral myopathy 1 skos:exactMatch OMIM:155310 visceral myopathy 1 semapv:UnspecifiedMatching MONDO:0020754 visceral myopathy 1 skos:exactMatch UMLS:C5542197 semapv:UnspecifiedMatching MONDO:0020755 obsolete heart block skos:exactMatch SCTID:233916004 semapv:UnspecifiedMatching MONDO:0020756 migraine, familial hemiplegic, 1 skos:exactMatch DOID:0111181 familial hemiplegic migraine 1 semapv:UnspecifiedMatching MONDO:0020756 migraine, familial hemiplegic, 1 skos:exactMatch MEDGEN:331388 semapv:UnspecifiedMatching MONDO:0020756 migraine, familial hemiplegic, 1 skos:exactMatch OMIM:141500 migraine, familial hemiplegic, 1 semapv:UnspecifiedMatching MONDO:0020756 migraine, familial hemiplegic, 1 skos:exactMatch UMLS:C1832884 semapv:UnspecifiedMatching MONDO:0020756 migraine, familial hemiplegic, 1 skos:exactMatch icd11.foundation:1583236457 Familial hemiplegic migraine 1 semapv:UnspecifiedMatching MONDO:0020756 migraine, familial hemiplegic, 1 skos:exactMatch mesh:C536890 semapv:UnspecifiedMatching MONDO:0020757 sporadic hemiplegic migraine skos:exactMatch MEDGEN:318737 semapv:UnspecifiedMatching MONDO:0020757 sporadic hemiplegic migraine skos:exactMatch NCIT:C117011 Sporadic Hemiplegic Migraine semapv:UnspecifiedMatching MONDO:0020757 sporadic hemiplegic migraine skos:exactMatch UMLS:C1832903 semapv:UnspecifiedMatching MONDO:0020757 sporadic hemiplegic migraine skos:exactMatch icd11.foundation:1303340532 Sporadic hemiplegic migraine semapv:UnspecifiedMatching MONDO:0020759 epilepsy, childhood absence, susceptibility to, 1 skos:exactMatch MEDGEN:325057 semapv:UnspecifiedMatching MONDO:0020759 epilepsy, childhood absence, susceptibility to, 1 skos:exactMatch OMIM:600131 epilepsy, childhood absence, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0020759 epilepsy, childhood absence, susceptibility to, 1 skos:exactMatch UMLS:C1838604 semapv:UnspecifiedMatching MONDO:0020760 skin squamous cell carcinoma in situ skos:exactMatch MEDGEN:378389 semapv:UnspecifiedMatching MONDO:0020760 skin squamous cell carcinoma in situ skos:exactMatch NCIT:C2906 Skin Squamous Cell Carcinoma In Situ semapv:UnspecifiedMatching MONDO:0020760 skin squamous cell carcinoma in situ skos:exactMatch UMLS:C2314897 semapv:UnspecifiedMatching MONDO:0020761 Bowen disease of the skin skos:exactMatch MEDGEN:14207 semapv:UnspecifiedMatching MONDO:0020761 Bowen disease of the skin skos:exactMatch NCIT:C62571 Bowen Disease of the Skin semapv:UnspecifiedMatching MONDO:0020761 Bowen disease of the skin skos:exactMatch UMLS:C0006079 semapv:UnspecifiedMatching MONDO:0020761 Bowen disease of the skin skos:exactMatch mesh:D001913 semapv:UnspecifiedMatching MONDO:0020762 diencephalic-mesencephalic junction dysplasia syndrome 2 skos:exactMatch MEDGEN:1684846 semapv:UnspecifiedMatching MONDO:0020762 diencephalic-mesencephalic junction dysplasia syndrome 2 skos:exactMatch OMIM:618646 diencephalic-mesencephalic junction dysplasia syndrome 2 semapv:UnspecifiedMatching MONDO:0020762 diencephalic-mesencephalic junction dysplasia syndrome 2 skos:exactMatch UMLS:C5231440 semapv:UnspecifiedMatching MONDO:0020763 Menke-Hennekam syndrome 1 skos:exactMatch MEDGEN:1675629 semapv:UnspecifiedMatching MONDO:0020763 Menke-Hennekam syndrome 1 skos:exactMatch OMIM:618332 menke-hennekam syndrome 1 semapv:UnspecifiedMatching MONDO:0020763 Menke-Hennekam syndrome 1 skos:exactMatch UMLS:C5193034 semapv:UnspecifiedMatching MONDO:0020764 Brown-Pearce carcinoma skos:exactMatch EFO:1001278 semapv:UnspecifiedMatching MONDO:0020764 Brown-Pearce carcinoma skos:exactMatch mesh:D002284 semapv:UnspecifiedMatching MONDO:0020765 neuropathy, congenital hypomyelinating, 2 skos:exactMatch MEDGEN:1648446 semapv:UnspecifiedMatching MONDO:0020765 neuropathy, congenital hypomyelinating, 2 skos:exactMatch OMIM:618184 neuropathy, congenital hypomyelinating, 2 semapv:UnspecifiedMatching MONDO:0020765 neuropathy, congenital hypomyelinating, 2 skos:exactMatch UMLS:C4722277 semapv:UnspecifiedMatching MONDO:0020766 neuropathy, congenital hypomyelinating, 3 skos:exactMatch MEDGEN:1648417 semapv:UnspecifiedMatching MONDO:0020766 neuropathy, congenital hypomyelinating, 3 skos:exactMatch OMIM:618186 neuropathy, congenital hypomyelinating, 3 semapv:UnspecifiedMatching MONDO:0020766 neuropathy, congenital hypomyelinating, 3 skos:exactMatch UMLS:C4748608 semapv:UnspecifiedMatching MONDO:0020767 cauda equina syndrome with neurogenic bladder skos:exactMatch MEDGEN:2916 semapv:UnspecifiedMatching MONDO:0020767 cauda equina syndrome with neurogenic bladder skos:exactMatch NCIT:C34453 Cauda Equina Syndrome with Neurogenic Bladder semapv:UnspecifiedMatching MONDO:0020767 cauda equina syndrome with neurogenic bladder skos:exactMatch SCTID:12454008 semapv:UnspecifiedMatching MONDO:0020767 cauda equina syndrome with neurogenic bladder skos:exactMatch UMLS:C0007459 semapv:UnspecifiedMatching MONDO:0020768 X-linked deafness skos:exactMatch OMIMPS:304500 Deafness, X-linked semapv:UnspecifiedMatching MONDO:0020769 Menke-Hennekam syndrome 2 skos:exactMatch MEDGEN:1676668 semapv:UnspecifiedMatching MONDO:0020769 Menke-Hennekam syndrome 2 skos:exactMatch OMIM:618333 menke-hennekam syndrome 2 semapv:UnspecifiedMatching MONDO:0020769 Menke-Hennekam syndrome 2 skos:exactMatch UMLS:C5193035 semapv:UnspecifiedMatching MONDO:0020770 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 skos:exactMatch DOID:0070465 autosomal recessive spinocerebellar ataxia with axonal neuropathy 3 semapv:UnspecifiedMatching MONDO:0020770 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 skos:exactMatch MEDGEN:1673607 semapv:UnspecifiedMatching MONDO:0020770 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 skos:exactMatch OMIM:618387 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 semapv:UnspecifiedMatching MONDO:0020770 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 skos:exactMatch UMLS:C5193070 semapv:UnspecifiedMatching MONDO:0020771 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy skos:exactMatch MEDGEN:337609 semapv:UnspecifiedMatching MONDO:0020771 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy skos:exactMatch OMIMPS:607250 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy semapv:UnspecifiedMatching MONDO:0020771 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy skos:exactMatch UMLS:C1846574 semapv:UnspecifiedMatching MONDO:0020772 epilepsy, juvenile absence, susceptibility to, 1 skos:exactMatch DOID:0111324 juvenile absence epilepsy 1 semapv:UnspecifiedMatching MONDO:0020772 epilepsy, juvenile absence, susceptibility to, 1 skos:exactMatch MEDGEN:413426 semapv:UnspecifiedMatching MONDO:0020772 epilepsy, juvenile absence, susceptibility to, 1 skos:exactMatch OMIM:607631 epilepsy, juvenile absence, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0020772 epilepsy, juvenile absence, susceptibility to, 1 skos:exactMatch UMLS:C2750892 semapv:UnspecifiedMatching MONDO:0020773 cerebrospinal fluid rhinorrhea skos:exactMatch MEDGEN:3331 semapv:UnspecifiedMatching MONDO:0020773 cerebrospinal fluid rhinorrhea skos:exactMatch NCIT:C84627 Cerebrospinal Fluid Rhinorrhea semapv:UnspecifiedMatching MONDO:0020773 cerebrospinal fluid rhinorrhea skos:exactMatch SCTID:85638002 semapv:UnspecifiedMatching MONDO:0020773 cerebrospinal fluid rhinorrhea skos:exactMatch UMLS:C0007815 semapv:UnspecifiedMatching MONDO:0020773 cerebrospinal fluid rhinorrhea skos:exactMatch mesh:D002559 semapv:UnspecifiedMatching MONDO:0020774 Menke-Hennekam syndrome skos:exactMatch MEDGEN:1814480 semapv:UnspecifiedMatching MONDO:0020774 Menke-Hennekam syndrome skos:exactMatch OMIMPS:618332 Menke-Hennekam syndrome semapv:UnspecifiedMatching MONDO:0020774 Menke-Hennekam syndrome skos:exactMatch Orphanet:592574 Menke-Hennekam syndrome semapv:UnspecifiedMatching MONDO:0020774 Menke-Hennekam syndrome skos:exactMatch UMLS:C5681632 semapv:UnspecifiedMatching MONDO:0020775 congenital disorder of glycosylation with defective fucosylation 1 skos:exactMatch OMIM:618005 congenital disorder of glycosylation with defective fucosylation 1 semapv:UnspecifiedMatching MONDO:0020776 chlamydiaceae infections skos:exactMatch EFO:1001288 semapv:UnspecifiedMatching MONDO:0020776 chlamydiaceae infections skos:exactMatch MEDGEN:3013 semapv:UnspecifiedMatching MONDO:0020776 chlamydiaceae infections skos:exactMatch UMLS:C0008153 semapv:UnspecifiedMatching MONDO:0020776 chlamydiaceae infections skos:exactMatch mesh:D002694 semapv:UnspecifiedMatching MONDO:0020777 congenital disorder of glycosylation with defective fucosylation 2 skos:exactMatch MEDGEN:1676187 semapv:UnspecifiedMatching MONDO:0020777 congenital disorder of glycosylation with defective fucosylation 2 skos:exactMatch OMIM:618324 congenital disorder of glycosylation with defective fucosylation 2 semapv:UnspecifiedMatching MONDO:0020777 congenital disorder of glycosylation with defective fucosylation 2 skos:exactMatch UMLS:C5193028 semapv:UnspecifiedMatching MONDO:0020778 cone-rod dystrophy and hearing loss 1 skos:exactMatch MEDGEN:1682048 semapv:UnspecifiedMatching MONDO:0020778 cone-rod dystrophy and hearing loss 1 skos:exactMatch OMIM:617236 cone-rod dystrophy and hearing loss 1 semapv:UnspecifiedMatching MONDO:0020778 cone-rod dystrophy and hearing loss 1 skos:exactMatch UMLS:C5193018 semapv:UnspecifiedMatching MONDO:0020779 cartilage development disorder skos:exactMatch MEDGEN:935 semapv:UnspecifiedMatching MONDO:0020779 cartilage development disorder skos:exactMatch NCIT:C34466 Cartilage Development Disorder semapv:UnspecifiedMatching MONDO:0020779 cartilage development disorder skos:exactMatch SCTID:67988000 semapv:UnspecifiedMatching MONDO:0020779 cartilage development disorder skos:exactMatch UMLS:C0008449 semapv:UnspecifiedMatching MONDO:0020780 cone-rod dystrophy and hearing loss 2 skos:exactMatch MEDGEN:1675017 semapv:UnspecifiedMatching MONDO:0020780 cone-rod dystrophy and hearing loss 2 skos:exactMatch OMIM:618358 cone-rod dystrophy and hearing loss 2 semapv:UnspecifiedMatching MONDO:0020780 cone-rod dystrophy and hearing loss 2 skos:exactMatch UMLS:C5193051 semapv:UnspecifiedMatching MONDO:0020781 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 skos:exactMatch MEDGEN:934642 semapv:UnspecifiedMatching MONDO:0020781 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 skos:exactMatch OMIM:617186 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 semapv:UnspecifiedMatching MONDO:0020781 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 skos:exactMatch Orphanet:555407 NAD(P)HX epimerase deficiency semapv:UnspecifiedMatching MONDO:0020781 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 skos:exactMatch UMLS:C4310675 semapv:UnspecifiedMatching MONDO:0020782 chronic gingivitis skos:exactMatch ICD10CM:K05.1 Chronic gingivitis semapv:UnspecifiedMatching MONDO:0020782 chronic gingivitis skos:exactMatch MEDGEN:965 semapv:UnspecifiedMatching MONDO:0020782 chronic gingivitis skos:exactMatch NCIT:C34474 Chronic Gingivitis semapv:UnspecifiedMatching MONDO:0020782 chronic gingivitis skos:exactMatch SCTID:72621003 semapv:UnspecifiedMatching MONDO:0020782 chronic gingivitis skos:exactMatch UMLS:C0008684 semapv:UnspecifiedMatching MONDO:0020782 chronic gingivitis skos:exactMatch icd11.foundation:1542018172 Chronic gingivitis semapv:UnspecifiedMatching MONDO:0020783 capillary malformation-arteriovenous malformation 1 skos:exactMatch MEDGEN:1648501 semapv:UnspecifiedMatching MONDO:0020783 capillary malformation-arteriovenous malformation 1 skos:exactMatch OMIM:608354 capillary malformation-arteriovenous malformation 1 semapv:UnspecifiedMatching MONDO:0020783 capillary malformation-arteriovenous malformation 1 skos:exactMatch Orphanet:693907 RASA1-related capillary malformation-arteriovenous malformation semapv:UnspecifiedMatching MONDO:0020783 capillary malformation-arteriovenous malformation 1 skos:exactMatch SCTID:234143003 semapv:UnspecifiedMatching MONDO:0020783 capillary malformation-arteriovenous malformation 1 skos:exactMatch UMLS:C4747394 semapv:UnspecifiedMatching MONDO:0020784 obsolete short sleep, familial natural, 1 skos:exactMatch OMIM:612975 short sleep, familial natural, 1 semapv:UnspecifiedMatching MONDO:0020785 capillary malformation-arteriovenous malformation 2 skos:exactMatch MEDGEN:1648502 semapv:UnspecifiedMatching MONDO:0020785 capillary malformation-arteriovenous malformation 2 skos:exactMatch OMIM:618196 capillary malformation-arteriovenous malformation 2 semapv:UnspecifiedMatching MONDO:0020785 capillary malformation-arteriovenous malformation 2 skos:exactMatch Orphanet:693912 EPHB4-related capillary malformation-arteriovenous malformation semapv:UnspecifiedMatching MONDO:0020785 capillary malformation-arteriovenous malformation 2 skos:exactMatch UMLS:C4748670 semapv:UnspecifiedMatching MONDO:0020786 obsolete short sleep, familial natural, 2 skos:exactMatch OMIM:618591 short sleep, familial natural, 2 semapv:UnspecifiedMatching MONDO:0020787 hypomagnesemia, seizures, and intellectual disability 1 skos:exactMatch MEDGEN:906582 semapv:UnspecifiedMatching MONDO:0020787 hypomagnesemia, seizures, and intellectual disability 1 skos:exactMatch OMIM:616418 hypomagnesemia, seizures, and impaired intellectual development 1 semapv:UnspecifiedMatching MONDO:0020787 hypomagnesemia, seizures, and intellectual disability 1 skos:exactMatch UMLS:C4225333 semapv:UnspecifiedMatching MONDO:0020788 hypomagnesemia, seizures, and intellectual disability 2 skos:exactMatch MEDGEN:1675904 semapv:UnspecifiedMatching MONDO:0020788 hypomagnesemia, seizures, and intellectual disability 2 skos:exactMatch OMIM:618314 hypomagnesemia, seizures, and impaired intellectual development 2 semapv:UnspecifiedMatching MONDO:0020788 hypomagnesemia, seizures, and intellectual disability 2 skos:exactMatch UMLS:C5193023 semapv:UnspecifiedMatching MONDO:0020789 pseudo-TORCH syndrome 1 skos:exactMatch MEDGEN:1639355 semapv:UnspecifiedMatching MONDO:0020789 pseudo-TORCH syndrome 1 skos:exactMatch OMIM:251290 pseudo-torch syndrome 1 semapv:UnspecifiedMatching MONDO:0020789 pseudo-TORCH syndrome 1 skos:exactMatch UMLS:C4552078 semapv:UnspecifiedMatching MONDO:0020790 gaze palsy, familial horizontal, with progressive scoliosis 1 skos:exactMatch MEDGEN:1647423 semapv:UnspecifiedMatching MONDO:0020790 gaze palsy, familial horizontal, with progressive scoliosis 1 skos:exactMatch OMIM:607313 gaze palsy, familial horizontal, with progressive scoliosis 1 semapv:UnspecifiedMatching MONDO:0020790 gaze palsy, familial horizontal, with progressive scoliosis 1 skos:exactMatch UMLS:C4551964 semapv:UnspecifiedMatching MONDO:0020791 corneal dystrophy, Meesmann, 1 skos:exactMatch DOID:0080670 Meesmann corneal dystrophy 1 semapv:UnspecifiedMatching MONDO:0020791 corneal dystrophy, Meesmann, 1 skos:exactMatch MEDGEN:1684668 semapv:UnspecifiedMatching MONDO:0020791 corneal dystrophy, Meesmann, 1 skos:exactMatch OMIM:122100 corneal dystrophy, meesmann, 1 semapv:UnspecifiedMatching MONDO:0020791 corneal dystrophy, Meesmann, 1 skos:exactMatch UMLS:C5231499 semapv:UnspecifiedMatching MONDO:0020792 dwarfism with tall vertebrae skos:exactMatch MEDGEN:338839 semapv:UnspecifiedMatching MONDO:0020792 dwarfism with tall vertebrae skos:exactMatch OMIM:126950 dwarfism with tall vertebrae semapv:UnspecifiedMatching MONDO:0020792 dwarfism with tall vertebrae skos:exactMatch UMLS:C1851996 semapv:UnspecifiedMatching MONDO:0020792 dwarfism with tall vertebrae skos:exactMatch mesh:C535725 semapv:UnspecifiedMatching MONDO:0020793 oculopharyngodistal myopathy 1 skos:exactMatch DOID:0081297 oculopharyngodistal myopathy 1 semapv:UnspecifiedMatching MONDO:0020793 oculopharyngodistal myopathy 1 skos:exactMatch MEDGEN:1684682 semapv:UnspecifiedMatching MONDO:0020793 oculopharyngodistal myopathy 1 skos:exactMatch OMIM:164310 oculopharyngodistal myopathy 1 semapv:UnspecifiedMatching MONDO:0020793 oculopharyngodistal myopathy 1 skos:exactMatch UMLS:C5231388 semapv:UnspecifiedMatching MONDO:0020794 colorectal medullary carcinoma skos:exactMatch MEDGEN:317525 semapv:UnspecifiedMatching MONDO:0020794 colorectal medullary carcinoma skos:exactMatch NCIT:C43590 Colorectal Medullary Carcinoma semapv:UnspecifiedMatching MONDO:0020794 colorectal medullary carcinoma skos:exactMatch UMLS:C1707438 semapv:UnspecifiedMatching MONDO:0020795 Silver-Russell syndrome 5 skos:exactMatch MEDGEN:1713787 semapv:UnspecifiedMatching MONDO:0020795 Silver-Russell syndrome 5 skos:exactMatch OMIM:618908 silver-russell syndrome 5 semapv:UnspecifiedMatching MONDO:0020795 Silver-Russell syndrome 5 skos:exactMatch UMLS:C5394456 semapv:UnspecifiedMatching MONDO:0020796 Silver-Russell syndrome 1 skos:exactMatch MEDGEN:1718472 semapv:UnspecifiedMatching MONDO:0020796 Silver-Russell syndrome 1 skos:exactMatch OMIM:180860 silver-russell syndrome 1 semapv:UnspecifiedMatching MONDO:0020796 Silver-Russell syndrome 1 skos:exactMatch UMLS:C5393125 semapv:UnspecifiedMatching MONDO:0020797 decompression sickness skos:exactMatch MEDGEN:41434 semapv:UnspecifiedMatching MONDO:0020797 decompression sickness skos:exactMatch SCTID:89684003 semapv:UnspecifiedMatching MONDO:0020797 decompression sickness skos:exactMatch UMLS:C0011119 semapv:UnspecifiedMatching MONDO:0020797 decompression sickness skos:exactMatch mesh:D003665 semapv:UnspecifiedMatching MONDO:0020798 hypoparathyroidism, familial isolated, 2 skos:exactMatch DOID:0061151 familial isolated hypoparathyroidism 2 semapv:UnspecifiedMatching MONDO:0020798 hypoparathyroidism, familial isolated, 2 skos:exactMatch MEDGEN:1715177 semapv:UnspecifiedMatching MONDO:0020798 hypoparathyroidism, familial isolated, 2 skos:exactMatch OMIM:618883 hypoparathyroidism, familial isolated, 2 semapv:UnspecifiedMatching MONDO:0020798 hypoparathyroidism, familial isolated, 2 skos:exactMatch UMLS:C5394383 semapv:UnspecifiedMatching MONDO:0020799 basal cell neoplasm skos:exactMatch EFO:1001763 semapv:UnspecifiedMatching MONDO:0020799 basal cell neoplasm skos:exactMatch MEDGEN:104921 semapv:UnspecifiedMatching MONDO:0020799 basal cell neoplasm skos:exactMatch NCIT:C3784 Basal Cell Neoplasm semapv:UnspecifiedMatching MONDO:0020799 basal cell neoplasm skos:exactMatch SCTID:127570002 semapv:UnspecifiedMatching MONDO:0020799 basal cell neoplasm skos:exactMatch UMLS:C0206710 semapv:UnspecifiedMatching MONDO:0020799 basal cell neoplasm skos:exactMatch mesh:D018295 semapv:UnspecifiedMatching MONDO:0020800 demyelinating disease of central nervous system skos:exactMatch ICD10CM:G35-G37 Demyelinating diseases of the central nervous system (G35-G37) semapv:UnspecifiedMatching MONDO:0020800 demyelinating disease of central nervous system skos:exactMatch MEDGEN:3719 semapv:UnspecifiedMatching MONDO:0020800 demyelinating disease of central nervous system skos:exactMatch NCIT:C34526 Demyelinating Disorder of Central Nervous System semapv:UnspecifiedMatching MONDO:0020800 demyelinating disease of central nervous system skos:exactMatch SCTID:6118003 semapv:UnspecifiedMatching MONDO:0020800 demyelinating disease of central nervous system skos:exactMatch UMLS:C0011302 semapv:UnspecifiedMatching MONDO:0020801 rectal medullary carcinoma skos:exactMatch MEDGEN:364314 semapv:UnspecifiedMatching MONDO:0020801 rectal medullary carcinoma skos:exactMatch NCIT:C60640 Rectal Medullary Carcinoma semapv:UnspecifiedMatching MONDO:0020801 rectal medullary carcinoma skos:exactMatch UMLS:C1882915 semapv:UnspecifiedMatching MONDO:0020803 obsolete bundle branch block skos:exactMatch SCTID:6374002 semapv:UnspecifiedMatching MONDO:0020804 basal cell carcinoma skos:exactMatch EFO:0004193 semapv:UnspecifiedMatching MONDO:0020804 basal cell carcinoma skos:exactMatch MEDGEN:2870 semapv:UnspecifiedMatching MONDO:0020804 basal cell carcinoma skos:exactMatch NCIT:C156767 Basal Cell Carcinoma semapv:UnspecifiedMatching MONDO:0020804 basal cell carcinoma skos:exactMatch UMLS:C0007117 semapv:UnspecifiedMatching MONDO:0020804 basal cell carcinoma skos:exactMatch mesh:D002280 semapv:UnspecifiedMatching MONDO:0020805 benign basal cell neoplasm skos:exactMatch MEDGEN:96885 semapv:UnspecifiedMatching MONDO:0020805 benign basal cell neoplasm skos:exactMatch UMLS:C0474802 semapv:UnspecifiedMatching MONDO:0020806 sinoatrial block skos:exactMatch MEDGEN:19984 semapv:UnspecifiedMatching MONDO:0020806 sinoatrial block skos:exactMatch SCTID:65778007 semapv:UnspecifiedMatching MONDO:0020806 sinoatrial block skos:exactMatch UMLS:C0037188 semapv:UnspecifiedMatching MONDO:0020806 sinoatrial block skos:exactMatch icd11.foundation:884453307 Sinoatrial block semapv:UnspecifiedMatching MONDO:0020806 sinoatrial block skos:exactMatch mesh:D012848 semapv:UnspecifiedMatching MONDO:0020807 ovarian sertoli-stromal cell tumor skos:exactMatch MEDGEN:309515 semapv:UnspecifiedMatching MONDO:0020807 ovarian sertoli-stromal cell tumor skos:exactMatch NCIT:C39966 Ovarian Sertoli-Stromal Cell Tumor semapv:UnspecifiedMatching MONDO:0020807 ovarian sertoli-stromal cell tumor skos:exactMatch UMLS:C1518732 semapv:UnspecifiedMatching MONDO:0020808 testicular sertoli cell tumor skos:exactMatch MEDGEN:91165 semapv:UnspecifiedMatching MONDO:0020808 testicular sertoli cell tumor skos:exactMatch NCIT:C4672 Testicular Sertoli Cell Tumor semapv:UnspecifiedMatching MONDO:0020808 testicular sertoli cell tumor skos:exactMatch UMLS:C0349671 semapv:UnspecifiedMatching MONDO:0020809 benign sertoli cell tumor skos:exactMatch MEDGEN:361204 semapv:UnspecifiedMatching MONDO:0020809 benign sertoli cell tumor skos:exactMatch NCIT:C67012 Benign Sertoli Cell Tumor semapv:UnspecifiedMatching MONDO:0020809 benign sertoli cell tumor skos:exactMatch UMLS:C1879826 semapv:UnspecifiedMatching MONDO:0020811 mitochondrial complex III deficiency, nuclear type skos:exactMatch OMIMPS:124000 Mitochondrial complex III deficiency, nuclear type semapv:UnspecifiedMatching MONDO:0020812 exposure, dental pulp skos:exactMatch MEDGEN:41473 semapv:UnspecifiedMatching MONDO:0020812 exposure, dental pulp skos:exactMatch UMLS:C0011406 semapv:UnspecifiedMatching MONDO:0020812 exposure, dental pulp skos:exactMatch mesh:D003789 semapv:UnspecifiedMatching MONDO:0020813 benign testicular sertoli cell tumor skos:exactMatch MEDGEN:231945 semapv:UnspecifiedMatching MONDO:0020813 benign testicular sertoli cell tumor skos:exactMatch NCIT:C6522 Benign Testicular Sertoli Cell Tumor semapv:UnspecifiedMatching MONDO:0020813 benign testicular sertoli cell tumor skos:exactMatch UMLS:C1332540 semapv:UnspecifiedMatching MONDO:0020814 miliaria alba skos:exactMatch MEDGEN:590455 semapv:UnspecifiedMatching MONDO:0020814 miliaria alba skos:exactMatch SCTID:201191004 semapv:UnspecifiedMatching MONDO:0020814 miliaria alba skos:exactMatch UMLS:C0406493 semapv:UnspecifiedMatching MONDO:0020815 dentigerous cyst skos:exactMatch MEDGEN:8309 semapv:UnspecifiedMatching MONDO:0020815 dentigerous cyst skos:exactMatch NCIT:C173832 Dentigerous Cyst semapv:UnspecifiedMatching MONDO:0020815 dentigerous cyst skos:exactMatch SCTID:9245008 semapv:UnspecifiedMatching MONDO:0020815 dentigerous cyst skos:exactMatch UMLS:C0011428 semapv:UnspecifiedMatching MONDO:0020815 dentigerous cyst skos:exactMatch mesh:D003803 semapv:UnspecifiedMatching MONDO:0020816 miliaria papulosa skos:exactMatch MEDGEN:590456 semapv:UnspecifiedMatching MONDO:0020816 miliaria papulosa skos:exactMatch SCTID:201192006 semapv:UnspecifiedMatching MONDO:0020816 miliaria papulosa skos:exactMatch UMLS:C0406494 semapv:UnspecifiedMatching MONDO:0020817 miliaria vesiculosa skos:exactMatch MEDGEN:590457 semapv:UnspecifiedMatching MONDO:0020817 miliaria vesiculosa skos:exactMatch SCTID:201195008 semapv:UnspecifiedMatching MONDO:0020817 miliaria vesiculosa skos:exactMatch UMLS:C0406495 semapv:UnspecifiedMatching MONDO:0020818 secondary dentine skos:exactMatch MEDGEN:3746 semapv:UnspecifiedMatching MONDO:0020818 secondary dentine skos:exactMatch SCTID:59818004 semapv:UnspecifiedMatching MONDO:0020818 secondary dentine skos:exactMatch UMLS:C0011434 semapv:UnspecifiedMatching MONDO:0020818 secondary dentine skos:exactMatch mesh:D003809 semapv:UnspecifiedMatching MONDO:0020820 distal arthrogryposis type 2B1 skos:exactMatch DOID:0111600 distal arthrogryposis type 2B1 semapv:UnspecifiedMatching MONDO:0020820 distal arthrogryposis type 2B1 skos:exactMatch MEDGEN:1676961 semapv:UnspecifiedMatching MONDO:0020820 distal arthrogryposis type 2B1 skos:exactMatch OMIM:601680 arthrogryposis, distal, type 2b1 semapv:UnspecifiedMatching MONDO:0020820 distal arthrogryposis type 2B1 skos:exactMatch UMLS:C5193014 semapv:UnspecifiedMatching MONDO:0020823 infantile miliaria skos:exactMatch MEDGEN:697609 semapv:UnspecifiedMatching MONDO:0020823 infantile miliaria skos:exactMatch SCTID:402824003 semapv:UnspecifiedMatching MONDO:0020823 infantile miliaria skos:exactMatch UMLS:C1274264 semapv:UnspecifiedMatching MONDO:0020830 diaphragmitis skos:exactMatch MEDGEN:507638 semapv:UnspecifiedMatching MONDO:0020830 diaphragmitis skos:exactMatch SCTID:73160007 semapv:UnspecifiedMatching MONDO:0020830 diaphragmitis skos:exactMatch UMLS:C0011985 semapv:UnspecifiedMatching MONDO:0020830 diaphragmitis skos:exactMatch icd11.foundation:1124735890 Diaphragmitis semapv:UnspecifiedMatching MONDO:0020831 congenital vertebral-cardiac-renal anomalies syndrome skos:exactMatch MEDGEN:1814457 semapv:UnspecifiedMatching MONDO:0020831 congenital vertebral-cardiac-renal anomalies syndrome skos:exactMatch OMIMPS:617660 Vertebral, cardiac, renal, and limb defects syndrome semapv:UnspecifiedMatching MONDO:0020831 congenital vertebral-cardiac-renal anomalies syndrome skos:exactMatch Orphanet:521438 Congenital vertebral-cardiac-renal anomalies syndrome semapv:UnspecifiedMatching MONDO:0020831 congenital vertebral-cardiac-renal anomalies syndrome skos:exactMatch UMLS:C5680183 semapv:UnspecifiedMatching MONDO:0020835 methemoglobinemia, alpha type skos:exactMatch MEDGEN:1635511 semapv:UnspecifiedMatching MONDO:0020835 methemoglobinemia, alpha type skos:exactMatch OMIM:617973 methemoglobinemia, alpha type semapv:UnspecifiedMatching MONDO:0020835 methemoglobinemia, alpha type skos:exactMatch UMLS:C4693798 semapv:UnspecifiedMatching MONDO:0020836 autism, susceptiblity to skos:exactMatch OMIMPS:209850 semapv:UnspecifiedMatching MONDO:0020837 oocyte maturation defect 5 skos:exactMatch MEDGEN:1644330 semapv:UnspecifiedMatching MONDO:0020837 oocyte maturation defect 5 skos:exactMatch OMIM:617996 oocyte/zygote/embryo maturation arrest 5 semapv:UnspecifiedMatching MONDO:0020837 oocyte maturation defect 5 skos:exactMatch UMLS:C4693865 semapv:UnspecifiedMatching MONDO:0020838 anterior nasal diphtheria skos:exactMatch MEDGEN:41598 semapv:UnspecifiedMatching MONDO:0020838 anterior nasal diphtheria skos:exactMatch NCIT:C34542 Anterior Nasal Diphtheria semapv:UnspecifiedMatching MONDO:0020838 anterior nasal diphtheria skos:exactMatch SCTID:15682004 semapv:UnspecifiedMatching MONDO:0020838 anterior nasal diphtheria skos:exactMatch UMLS:C0012553 semapv:UnspecifiedMatching MONDO:0020840 pulmonary alveolar proteinosis with hypogammaglobulinemia skos:exactMatch DOID:0061070 immunodeficiency 100 semapv:UnspecifiedMatching MONDO:0020840 pulmonary alveolar proteinosis with hypogammaglobulinemia skos:exactMatch MEDGEN:1648298 semapv:UnspecifiedMatching MONDO:0020840 pulmonary alveolar proteinosis with hypogammaglobulinemia skos:exactMatch MEDGEN:1810375 semapv:UnspecifiedMatching MONDO:0020840 pulmonary alveolar proteinosis with hypogammaglobulinemia skos:exactMatch OMIM:618042 immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinemia semapv:UnspecifiedMatching MONDO:0020840 pulmonary alveolar proteinosis with hypogammaglobulinemia skos:exactMatch Orphanet:572428 Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia semapv:UnspecifiedMatching MONDO:0020840 pulmonary alveolar proteinosis with hypogammaglobulinemia skos:exactMatch UMLS:C4747984 semapv:UnspecifiedMatching MONDO:0020840 pulmonary alveolar proteinosis with hypogammaglobulinemia skos:exactMatch UMLS:C5680364 semapv:UnspecifiedMatching MONDO:0020841 neurodevelopmental disorder with cerebellar atrophy and with or without seizures skos:exactMatch MEDGEN:1648373 semapv:UnspecifiedMatching MONDO:0020841 neurodevelopmental disorder with cerebellar atrophy and with or without seizures skos:exactMatch OMIM:618056 neurodevelopmental disorder with cerebellar atrophy and with or without seizures semapv:UnspecifiedMatching MONDO:0020841 neurodevelopmental disorder with cerebellar atrophy and with or without seizures skos:exactMatch UMLS:C4748032 semapv:UnspecifiedMatching MONDO:0020842 obsolete medullary carcinoma skos:exactMatch NCIT:C8998 Medullary Carcinoma semapv:UnspecifiedMatching MONDO:0020843 pseudomembranous diphtheritic conjunctivitis skos:exactMatch MEDGEN:3856 semapv:UnspecifiedMatching MONDO:0020843 pseudomembranous diphtheritic conjunctivitis skos:exactMatch NCIT:C34543 Pseudomembranous Diphtheritic Conjunctivitis semapv:UnspecifiedMatching MONDO:0020843 pseudomembranous diphtheritic conjunctivitis skos:exactMatch SCTID:7773002 semapv:UnspecifiedMatching MONDO:0020843 pseudomembranous diphtheritic conjunctivitis skos:exactMatch UMLS:C0012554 semapv:UnspecifiedMatching MONDO:0020845 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 skos:exactMatch DOID:0111524 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5 semapv:UnspecifiedMatching MONDO:0020845 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 skos:exactMatch MEDGEN:1648331 semapv:UnspecifiedMatching MONDO:0020845 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 skos:exactMatch OMIM:618098 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 semapv:UnspecifiedMatching MONDO:0020845 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 skos:exactMatch UMLS:C4748184 semapv:UnspecifiedMatching MONDO:0020846 intellectual disability, autosomal recessive 64 skos:exactMatch DOID:0081225 autosomal recessive intellectual developmental disorder 64 semapv:UnspecifiedMatching MONDO:0020846 intellectual disability, autosomal recessive 64 skos:exactMatch MEDGEN:1648279 semapv:UnspecifiedMatching MONDO:0020846 intellectual disability, autosomal recessive 64 skos:exactMatch OMIM:618103 intellectual developmental disorder, autosomal recessive 64 semapv:UnspecifiedMatching MONDO:0020846 intellectual disability, autosomal recessive 64 skos:exactMatch UMLS:C4748192 semapv:UnspecifiedMatching MONDO:0020847 intellectual disability, autosomal dominant 58 skos:exactMatch DOID:0061032 autosomal dominant intellectual developmental disorder 58 semapv:UnspecifiedMatching MONDO:0020847 intellectual disability, autosomal dominant 58 skos:exactMatch MEDGEN:1648488 semapv:UnspecifiedMatching MONDO:0020847 intellectual disability, autosomal dominant 58 skos:exactMatch OMIM:618106 intellectual developmental disorder, autosomal dominant 58 semapv:UnspecifiedMatching MONDO:0020847 intellectual disability, autosomal dominant 58 skos:exactMatch UMLS:C4748195 semapv:UnspecifiedMatching MONDO:0020848 osteopetrosis, autosomal dominant 3 skos:exactMatch MEDGEN:1648454 semapv:UnspecifiedMatching MONDO:0020848 osteopetrosis, autosomal dominant 3 skos:exactMatch OMIM:618107 osteopetrosis, autosomal dominant 3 semapv:UnspecifiedMatching MONDO:0020848 osteopetrosis, autosomal dominant 3 skos:exactMatch UMLS:C4748197 semapv:UnspecifiedMatching MONDO:0020849 immunodeficiency 57 skos:exactMatch DOID:0111952 immunodeficiency 57 semapv:UnspecifiedMatching MONDO:0020849 immunodeficiency 57 skos:exactMatch MEDGEN:1648306 semapv:UnspecifiedMatching MONDO:0020849 immunodeficiency 57 skos:exactMatch OMIM:618108 immunodeficiency 57 with autoinflammation semapv:UnspecifiedMatching MONDO:0020849 immunodeficiency 57 skos:exactMatch UMLS:C4748212 semapv:UnspecifiedMatching MONDO:0020850 intellectual disability, autosomal recessive 65 skos:exactMatch DOID:0081226 autosomal recessive intellectual developmental disorder 65 semapv:UnspecifiedMatching MONDO:0020850 intellectual disability, autosomal recessive 65 skos:exactMatch MEDGEN:1648401 semapv:UnspecifiedMatching MONDO:0020850 intellectual disability, autosomal recessive 65 skos:exactMatch OMIM:618109 intellectual developmental disorder, autosomal recessive 65 semapv:UnspecifiedMatching MONDO:0020850 intellectual disability, autosomal recessive 65 skos:exactMatch UMLS:C4748219 semapv:UnspecifiedMatching MONDO:0020851 spermatogenic failure 30 skos:exactMatch DOID:0111913 spermatogenic failure 30 semapv:UnspecifiedMatching MONDO:0020851 spermatogenic failure 30 skos:exactMatch MEDGEN:1648394 semapv:UnspecifiedMatching MONDO:0020851 spermatogenic failure 30 skos:exactMatch OMIM:618110 spermatogenic failure 30 semapv:UnspecifiedMatching MONDO:0020851 spermatogenic failure 30 skos:exactMatch UMLS:C4748224 semapv:UnspecifiedMatching MONDO:0020852 spermatogenic failure 31 skos:exactMatch DOID:0111922 spermatogenic failure 31 semapv:UnspecifiedMatching MONDO:0020852 spermatogenic failure 31 skos:exactMatch MEDGEN:1648419 semapv:UnspecifiedMatching MONDO:0020852 spermatogenic failure 31 skos:exactMatch OMIM:618112 spermatogenic failure 31 semapv:UnspecifiedMatching MONDO:0020852 spermatogenic failure 31 skos:exactMatch UMLS:C4748234 semapv:UnspecifiedMatching MONDO:0020853 encephalitis/encephalopathy, mild, with reversible myelin vacuolization skos:exactMatch MEDGEN:1648328 semapv:UnspecifiedMatching MONDO:0020853 encephalitis/encephalopathy, mild, with reversible myelin vacuolization skos:exactMatch OMIM:618113 encephalitis/encephalopathy, mild, with reversible myelin vacuolization semapv:UnspecifiedMatching MONDO:0020853 encephalitis/encephalopathy, mild, with reversible myelin vacuolization skos:exactMatch UMLS:C4722446 semapv:UnspecifiedMatching MONDO:0020854 Liddle syndrome 2 skos:exactMatch MEDGEN:1648476 semapv:UnspecifiedMatching MONDO:0020854 Liddle syndrome 2 skos:exactMatch OMIM:618114 liddle syndrome 2 semapv:UnspecifiedMatching MONDO:0020854 Liddle syndrome 2 skos:exactMatch UMLS:C4748251 semapv:UnspecifiedMatching MONDO:0020855 spermatogenic failure 32 skos:exactMatch DOID:0111925 spermatogenic failure 32 semapv:UnspecifiedMatching MONDO:0020855 spermatogenic failure 32 skos:exactMatch MEDGEN:1648444 semapv:UnspecifiedMatching MONDO:0020855 spermatogenic failure 32 skos:exactMatch OMIM:618115 spermatogenic failure 32 semapv:UnspecifiedMatching MONDO:0020855 spermatogenic failure 32 skos:exactMatch UMLS:C4748253 semapv:UnspecifiedMatching MONDO:0020856 bone marrow failure syndrome 4 skos:exactMatch MEDGEN:1648485 semapv:UnspecifiedMatching MONDO:0020856 bone marrow failure syndrome 4 skos:exactMatch OMIM:618116 bone marrow failure syndrome 4 semapv:UnspecifiedMatching MONDO:0020856 bone marrow failure syndrome 4 skos:exactMatch UMLS:C4748257 semapv:UnspecifiedMatching MONDO:0020857 ovarian dysgenesis 7 skos:exactMatch DOID:0080499 ovarian dysgenesis 7 semapv:UnspecifiedMatching MONDO:0020857 ovarian dysgenesis 7 skos:exactMatch MEDGEN:1648458 semapv:UnspecifiedMatching MONDO:0020857 ovarian dysgenesis 7 skos:exactMatch OMIM:618117 ovarian dysgenesis 7 semapv:UnspecifiedMatching MONDO:0020857 ovarian dysgenesis 7 skos:exactMatch UMLS:C4748263 semapv:UnspecifiedMatching MONDO:0020858 mitochondrial complex V (ATP synthase) deficiency, nuclear type 5 skos:exactMatch DOID:0070463 mitochondrial complex V (ATP synthase) deficiency nuclear type 5 semapv:UnspecifiedMatching MONDO:0020858 mitochondrial complex V (ATP synthase) deficiency, nuclear type 5 skos:exactMatch MEDGEN:1648429 semapv:UnspecifiedMatching MONDO:0020858 mitochondrial complex V (ATP synthase) deficiency, nuclear type 5 skos:exactMatch OMIM:618120 mitochondrial complex 5 (atp synthase) deficiency, nuclear type 5 semapv:UnspecifiedMatching MONDO:0020858 mitochondrial complex V (ATP synthase) deficiency, nuclear type 5 skos:exactMatch UMLS:C4748269 semapv:UnspecifiedMatching MONDO:0020860 faucial diphtheria skos:exactMatch MEDGEN:3857 semapv:UnspecifiedMatching MONDO:0020860 faucial diphtheria skos:exactMatch NCIT:C34545 Faucial Diphtheria semapv:UnspecifiedMatching MONDO:0020860 faucial diphtheria skos:exactMatch SCTID:3419005 semapv:UnspecifiedMatching MONDO:0020860 faucial diphtheria skos:exactMatch UMLS:C0012556 semapv:UnspecifiedMatching MONDO:0020863 laryngeal diphtheria skos:exactMatch ICD10CM:A36.2 Laryngeal diphtheria semapv:UnspecifiedMatching MONDO:0020863 laryngeal diphtheria skos:exactMatch MEDGEN:4336 semapv:UnspecifiedMatching MONDO:0020863 laryngeal diphtheria skos:exactMatch NCIT:C34546 Laryngeal Diphtheria semapv:UnspecifiedMatching MONDO:0020863 laryngeal diphtheria skos:exactMatch SCTID:50215002 semapv:UnspecifiedMatching MONDO:0020863 laryngeal diphtheria skos:exactMatch UMLS:C0012557 semapv:UnspecifiedMatching MONDO:0020863 laryngeal diphtheria skos:exactMatch icd11.foundation:1101542926 Laryngeal diphtheria semapv:UnspecifiedMatching MONDO:0020866 nasopharyngeal diphtheria skos:exactMatch ICD10CM:A36.1 Nasopharyngeal diphtheria semapv:UnspecifiedMatching MONDO:0020866 nasopharyngeal diphtheria skos:exactMatch MEDGEN:4337 semapv:UnspecifiedMatching MONDO:0020866 nasopharyngeal diphtheria skos:exactMatch NCIT:C34547 Nasopharyngeal Diphtheria semapv:UnspecifiedMatching MONDO:0020866 nasopharyngeal diphtheria skos:exactMatch SCTID:75589004 semapv:UnspecifiedMatching MONDO:0020866 nasopharyngeal diphtheria skos:exactMatch UMLS:C0012558 semapv:UnspecifiedMatching MONDO:0020871 obsolete name syndrome skos:exactMatch Orphanet:623 NAME syndrome semapv:UnspecifiedMatching MONDO:0020920 escherichia coli infection skos:exactMatch EFO:1001318 semapv:UnspecifiedMatching MONDO:0020920 escherichia coli infection skos:exactMatch MEDGEN:4543 semapv:UnspecifiedMatching MONDO:0020920 escherichia coli infection skos:exactMatch NCIT:C34594 Escherichia coli Infection semapv:UnspecifiedMatching MONDO:0020920 escherichia coli infection skos:exactMatch SCTID:71057007 semapv:UnspecifiedMatching MONDO:0020920 escherichia coli infection skos:exactMatch UMLS:C0014836 semapv:UnspecifiedMatching MONDO:0020920 escherichia coli infection skos:exactMatch mesh:D004927 semapv:UnspecifiedMatching MONDO:0020927 postaxial polydactyly skos:exactMatch MEDGEN:67394 semapv:UnspecifiedMatching MONDO:0020927 postaxial polydactyly skos:exactMatch OMIMPS:174200 Polydactyly, postaxial semapv:UnspecifiedMatching MONDO:0020927 postaxial polydactyly skos:exactMatch UMLS:C0220697 semapv:UnspecifiedMatching MONDO:0020937 contractures, pterygia, and variable skeletal fusions syndrome skos:exactMatch OMIMPS:178110 Contractures, pterygia, and variable skeletal fusions syndrome semapv:UnspecifiedMatching MONDO:0020944 fungal infection of eye skos:exactMatch MEDGEN:41935 semapv:UnspecifiedMatching MONDO:0020944 fungal infection of eye skos:exactMatch SCTID:31194008 semapv:UnspecifiedMatching MONDO:0020944 fungal infection of eye skos:exactMatch UMLS:C0015405 semapv:UnspecifiedMatching MONDO:0020944 fungal infection of eye skos:exactMatch mesh:D015821 semapv:UnspecifiedMatching MONDO:0020947 parasitic eye infection skos:exactMatch MEDGEN:8752 semapv:UnspecifiedMatching MONDO:0020947 parasitic eye infection skos:exactMatch SCTID:312418006 semapv:UnspecifiedMatching MONDO:0020947 parasitic eye infection skos:exactMatch UMLS:C0015406 semapv:UnspecifiedMatching MONDO:0020947 parasitic eye infection skos:exactMatch mesh:D015822 semapv:UnspecifiedMatching MONDO:0020950 viral eye infection skos:exactMatch MEDGEN:8753 semapv:UnspecifiedMatching MONDO:0020950 viral eye infection skos:exactMatch SCTID:312132001 semapv:UnspecifiedMatching MONDO:0020950 viral eye infection skos:exactMatch UMLS:C0015407 semapv:UnspecifiedMatching MONDO:0020950 viral eye infection skos:exactMatch mesh:D015828 semapv:UnspecifiedMatching MONDO:0020959 Mansonella ozzardi infection skos:exactMatch MEDGEN:5183 semapv:UnspecifiedMatching MONDO:0020959 Mansonella ozzardi infection skos:exactMatch NCIT:C34612 Mansonella Ozzardi Infection semapv:UnspecifiedMatching MONDO:0020959 Mansonella ozzardi infection skos:exactMatch SCTID:30865009 semapv:UnspecifiedMatching MONDO:0020959 Mansonella ozzardi infection skos:exactMatch UMLS:C0016089 semapv:UnspecifiedMatching MONDO:0020971 gonococcal urethritis skos:exactMatch MEDGEN:42278 semapv:UnspecifiedMatching MONDO:0020971 gonococcal urethritis skos:exactMatch NCIT:C26787 Gonococcal Urethritis semapv:UnspecifiedMatching MONDO:0020971 gonococcal urethritis skos:exactMatch SCTID:236682002 semapv:UnspecifiedMatching MONDO:0020971 gonococcal urethritis skos:exactMatch UMLS:C0018078 semapv:UnspecifiedMatching MONDO:0020971 gonococcal urethritis skos:exactMatch icd11.foundation:684710834 Gonococcal urethritis semapv:UnspecifiedMatching MONDO:0020974 laryngeal granuloma skos:exactMatch MEDGEN:6674 semapv:UnspecifiedMatching MONDO:0020974 laryngeal granuloma skos:exactMatch SCTID:72211003 semapv:UnspecifiedMatching MONDO:0020974 laryngeal granuloma skos:exactMatch UMLS:C0018196 semapv:UnspecifiedMatching MONDO:0020974 laryngeal granuloma skos:exactMatch mesh:D006102 semapv:UnspecifiedMatching MONDO:0020977 granulomatous prostatitis skos:exactMatch ICD10CM:N41.4 Granulomatous prostatitis semapv:UnspecifiedMatching MONDO:0020977 granulomatous prostatitis skos:exactMatch MEDGEN:42294 semapv:UnspecifiedMatching MONDO:0020977 granulomatous prostatitis skos:exactMatch NCIT:C26789 Granulomatous Prostatitis semapv:UnspecifiedMatching MONDO:0020977 granulomatous prostatitis skos:exactMatch SCTID:61500009 semapv:UnspecifiedMatching MONDO:0020977 granulomatous prostatitis skos:exactMatch UMLS:C0018204 semapv:UnspecifiedMatching MONDO:0020977 granulomatous prostatitis skos:exactMatch icd11.foundation:66037326 Granulomatous prostatitis semapv:UnspecifiedMatching MONDO:0020979 pilosebaceous hamartoma skos:exactMatch MEDGEN:277515 semapv:UnspecifiedMatching MONDO:0020979 pilosebaceous hamartoma skos:exactMatch NCIT:C5565 Pilosebaceous Hamartoma semapv:UnspecifiedMatching MONDO:0020979 pilosebaceous hamartoma skos:exactMatch UMLS:C1335410 semapv:UnspecifiedMatching MONDO:0020979 pilosebaceous hamartoma skos:exactMatch icd11.foundation:59912591 Pilosebaceous hamartoma semapv:UnspecifiedMatching MONDO:0020980 hair nevus skos:exactMatch MEDGEN:6707 semapv:UnspecifiedMatching MONDO:0020980 hair nevus skos:exactMatch NCIT:C3074 Hairy Nevus semapv:UnspecifiedMatching MONDO:0020980 hair nevus skos:exactMatch SCTID:201161009 semapv:UnspecifiedMatching MONDO:0020980 hair nevus skos:exactMatch UMLS:C0018508 semapv:UnspecifiedMatching MONDO:0020983 myocardial rupture skos:exactMatch MEDGEN:6750 semapv:UnspecifiedMatching MONDO:0020983 myocardial rupture skos:exactMatch UMLS:C0018813 semapv:UnspecifiedMatching MONDO:0020983 myocardial rupture skos:exactMatch mesh:D006341 semapv:UnspecifiedMatching MONDO:0020989 hereditary persistence of fetal hemoglobin skos:exactMatch ICD10CM:D56.4 Hereditary persistence of fetal hemoglobin [HPFH] semapv:UnspecifiedMatching MONDO:0020989 hereditary persistence of fetal hemoglobin skos:exactMatch MEDGEN:5495 semapv:UnspecifiedMatching MONDO:0020989 hereditary persistence of fetal hemoglobin skos:exactMatch NCIT:C129072 Hereditary Persistence of Fetal Hemoglobin semapv:UnspecifiedMatching MONDO:0020989 hereditary persistence of fetal hemoglobin skos:exactMatch SCTID:191201002 semapv:UnspecifiedMatching MONDO:0020989 hereditary persistence of fetal hemoglobin skos:exactMatch UMLS:C0019025 semapv:UnspecifiedMatching MONDO:0020999 obsolete genetic chronic primary adrenal insufficiency skos:exactMatch Orphanet:101960 Genetic chronic primary adrenal insufficiency semapv:UnspecifiedMatching MONDO:0021001 hemochromatosis type 1 skos:exactMatch DOID:0111029 hemochromatosis type 1 semapv:UnspecifiedMatching MONDO:0021001 hemochromatosis type 1 skos:exactMatch EFO:0006513 semapv:UnspecifiedMatching MONDO:0021001 hemochromatosis type 1 skos:exactMatch MEDGEN:854011 semapv:UnspecifiedMatching MONDO:0021001 hemochromatosis type 1 skos:exactMatch NCIT:C84764 HFE-Associated Hereditary Hemochromatosis semapv:UnspecifiedMatching MONDO:0021001 hemochromatosis type 1 skos:exactMatch OMIM:235200 hemochromatosis, type 1 semapv:UnspecifiedMatching MONDO:0021001 hemochromatosis type 1 skos:exactMatch UMLS:C3469186 semapv:UnspecifiedMatching MONDO:0021002 syndactyly skos:exactMatch DOID:11193 syndactyly semapv:UnspecifiedMatching MONDO:0021002 syndactyly skos:exactMatch ICD10CM:Q70 Syndactyly semapv:UnspecifiedMatching MONDO:0021002 syndactyly skos:exactMatch MEDGEN:52619 semapv:UnspecifiedMatching MONDO:0021002 syndactyly skos:exactMatch UMLS:C0039075 semapv:UnspecifiedMatching MONDO:0021002 syndactyly skos:exactMatch mesh:D013576 semapv:UnspecifiedMatching MONDO:0021003 polydactyly skos:exactMatch DOID:1148 polydactyly semapv:UnspecifiedMatching MONDO:0021003 polydactyly skos:exactMatch ICD10CM:Q69 Polydactyly semapv:UnspecifiedMatching MONDO:0021003 polydactyly skos:exactMatch ICD10WHO:Q69 Polydactyly semapv:UnspecifiedMatching MONDO:0021003 polydactyly skos:exactMatch MEDGEN:57774 semapv:UnspecifiedMatching MONDO:0021003 polydactyly skos:exactMatch NCIT:C87110 Polydactyly semapv:UnspecifiedMatching MONDO:0021003 polydactyly skos:exactMatch OMIM:603596 polydactyly semapv:UnspecifiedMatching MONDO:0021003 polydactyly skos:exactMatch SCTID:367506006 semapv:UnspecifiedMatching MONDO:0021003 polydactyly skos:exactMatch UMLS:C0152427 semapv:UnspecifiedMatching MONDO:0021003 polydactyly skos:exactMatch mesh:D017689 semapv:UnspecifiedMatching MONDO:0021004 brachydactyly skos:exactMatch DOID:0050581 brachydactyly semapv:UnspecifiedMatching MONDO:0021004 brachydactyly skos:exactMatch MEDGEN:67454 semapv:UnspecifiedMatching MONDO:0021004 brachydactyly skos:exactMatch SCTID:43476002 semapv:UnspecifiedMatching MONDO:0021004 brachydactyly skos:exactMatch UMLS:C0221357 semapv:UnspecifiedMatching MONDO:0021004 brachydactyly skos:exactMatch icd11.foundation:598200019 Brachydactyly semapv:UnspecifiedMatching MONDO:0021004 brachydactyly skos:exactMatch mesh:D059327 semapv:UnspecifiedMatching MONDO:0021005 faciodigitogenital syndrome skos:exactMatch DOID:0111824 Aarskog syndrome semapv:UnspecifiedMatching MONDO:0021005 faciodigitogenital syndrome skos:exactMatch Orphanet:915 Aarskog-Scott syndrome semapv:UnspecifiedMatching MONDO:0021008 secondary antiphospholipid syndrome skos:exactMatch MEDGEN:592743 semapv:UnspecifiedMatching MONDO:0021008 secondary antiphospholipid syndrome skos:exactMatch SCTID:239895006 semapv:UnspecifiedMatching MONDO:0021008 secondary antiphospholipid syndrome skos:exactMatch UMLS:C0409983 semapv:UnspecifiedMatching MONDO:0021008 secondary antiphospholipid syndrome skos:exactMatch icd11.foundation:138987181 Secondary antiphospholipid syndrome semapv:UnspecifiedMatching MONDO:0021009 salivary gland mucoepidermoid carcinoma skos:exactMatch DOID:0081293 salivary gland mucoepidermoid carcinoma semapv:UnspecifiedMatching MONDO:0021009 salivary gland mucoepidermoid carcinoma skos:exactMatch MEDGEN:277630 semapv:UnspecifiedMatching MONDO:0021009 salivary gland mucoepidermoid carcinoma skos:exactMatch NCIT:C5908 Salivary Gland Mucoepidermoid Carcinoma semapv:UnspecifiedMatching MONDO:0021009 salivary gland mucoepidermoid carcinoma skos:exactMatch SCTID:423708008 semapv:UnspecifiedMatching MONDO:0021009 salivary gland mucoepidermoid carcinoma skos:exactMatch UMLS:C1335903 semapv:UnspecifiedMatching MONDO:0021010 skin lymphangiosarcoma skos:exactMatch MEDGEN:87536 semapv:UnspecifiedMatching MONDO:0021010 skin lymphangiosarcoma skos:exactMatch NCIT:C4490 Skin Lymphangiosarcoma semapv:UnspecifiedMatching MONDO:0021010 skin lymphangiosarcoma skos:exactMatch SCTID:62497000 semapv:UnspecifiedMatching MONDO:0021010 skin lymphangiosarcoma skos:exactMatch UMLS:C0346082 semapv:UnspecifiedMatching MONDO:0021011 hereditary progressive chorea without dementia skos:exactMatch MEDGEN:98278 semapv:UnspecifiedMatching MONDO:0021011 hereditary progressive chorea without dementia skos:exactMatch OMIM:118700 chorea, benign hereditary semapv:UnspecifiedMatching MONDO:0021011 hereditary progressive chorea without dementia skos:exactMatch UMLS:C0393584 semapv:UnspecifiedMatching MONDO:0021012 susceptibility to visceral leishmaniasis, 1 skos:exactMatch MEDGEN:370034 semapv:UnspecifiedMatching MONDO:0021012 susceptibility to visceral leishmaniasis, 1 skos:exactMatch OMIM:608207 kala-azar, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0021012 susceptibility to visceral leishmaniasis, 1 skos:exactMatch UMLS:C1969520 semapv:UnspecifiedMatching MONDO:0021013 trichothiodystrophy 4, nonphotosensitive skos:exactMatch DOID:0050528 nonphotosensitive trichothiodystrophy 4 semapv:UnspecifiedMatching MONDO:0021013 trichothiodystrophy 4, nonphotosensitive skos:exactMatch MEDGEN:272036 semapv:UnspecifiedMatching MONDO:0021013 trichothiodystrophy 4, nonphotosensitive skos:exactMatch NCIT:C146899 Trichothiodystrophy 4, Nonphotosensitive semapv:UnspecifiedMatching MONDO:0021013 trichothiodystrophy 4, nonphotosensitive skos:exactMatch OMIM:234050 trichothiodystrophy 4, nonphotosensitive semapv:UnspecifiedMatching MONDO:0021013 trichothiodystrophy 4, nonphotosensitive skos:exactMatch SCTID:403796005 semapv:UnspecifiedMatching MONDO:0021013 trichothiodystrophy 4, nonphotosensitive skos:exactMatch UMLS:C1313961 semapv:UnspecifiedMatching MONDO:0021016 obsolete channelopathy skos:exactMatch mesh:D053447 semapv:UnspecifiedMatching MONDO:0021018 autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) skos:exactMatch DOID:0110305 autosomal dominant limb-girdle muscular dystrophy type 1 semapv:UnspecifiedMatching MONDO:0021018 autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) skos:exactMatch MEDGEN:1648441 semapv:UnspecifiedMatching MONDO:0021018 autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) skos:exactMatch OMIM:603511 muscular dystrophy, limb-girdle, autosomal dominant 1 semapv:UnspecifiedMatching MONDO:0021018 autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) skos:exactMatch Orphanet:34516 DNAJB6-related limb-girdle muscular dystrophy D1 semapv:UnspecifiedMatching MONDO:0021018 autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) skos:exactMatch UMLS:C4721885 semapv:UnspecifiedMatching MONDO:0021018 autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) skos:exactMatch mesh:C566370 semapv:UnspecifiedMatching MONDO:0021019 X-linked recessive ocular albinism skos:exactMatch MEDGEN:90991 semapv:UnspecifiedMatching MONDO:0021019 X-linked recessive ocular albinism skos:exactMatch NCIT:C118785 Ocular Albinism Type 1 semapv:UnspecifiedMatching MONDO:0021019 X-linked recessive ocular albinism skos:exactMatch OMIM:300500 albinism, ocular, type 1 semapv:UnspecifiedMatching MONDO:0021019 X-linked recessive ocular albinism skos:exactMatch Orphanet:54 X-linked recessive ocular albinism semapv:UnspecifiedMatching MONDO:0021019 X-linked recessive ocular albinism skos:exactMatch SCTID:78642008 semapv:UnspecifiedMatching MONDO:0021019 X-linked recessive ocular albinism skos:exactMatch UMLS:C0342684 semapv:UnspecifiedMatching MONDO:0021019 X-linked recessive ocular albinism skos:exactMatch icd11.foundation:846740259 X-linked recessive ocular albinism semapv:UnspecifiedMatching MONDO:0021019 X-linked recessive ocular albinism skos:exactMatch mesh:C537863 semapv:UnspecifiedMatching MONDO:0021020 Crigler-Najjar syndrome type 1 skos:exactMatch MEDGEN:41346 semapv:UnspecifiedMatching MONDO:0021020 Crigler-Najjar syndrome type 1 skos:exactMatch OMIM:218800 crigler-najjar syndrome, type 1 semapv:UnspecifiedMatching MONDO:0021020 Crigler-Najjar syndrome type 1 skos:exactMatch Orphanet:79234 Crigler-Najjar syndrome type 1 semapv:UnspecifiedMatching MONDO:0021020 Crigler-Najjar syndrome type 1 skos:exactMatch SCTID:8933000 semapv:UnspecifiedMatching MONDO:0021020 Crigler-Najjar syndrome type 1 skos:exactMatch UMLS:C0010324 semapv:UnspecifiedMatching MONDO:0021020 Crigler-Najjar syndrome type 1 skos:exactMatch icd11.foundation:1098453659 Crigler-Najjar syndrome type 1 semapv:UnspecifiedMatching MONDO:0021021 craniodiaphyseal dysplasia, autosomal dominant skos:exactMatch DOID:0080807 autosomal dominant craniodiaphyseal dysplasia semapv:UnspecifiedMatching MONDO:0021021 craniodiaphyseal dysplasia, autosomal dominant skos:exactMatch MEDGEN:382678 semapv:UnspecifiedMatching MONDO:0021021 craniodiaphyseal dysplasia, autosomal dominant skos:exactMatch OMIM:122860 craniodiaphyseal dysplasia, autosomal dominant semapv:UnspecifiedMatching MONDO:0021021 craniodiaphyseal dysplasia, autosomal dominant skos:exactMatch UMLS:C2675746 semapv:UnspecifiedMatching MONDO:0021021 craniodiaphyseal dysplasia, autosomal dominant skos:exactMatch mesh:C567275 semapv:UnspecifiedMatching MONDO:0021022 hereditary hyperekplexia skos:exactMatch DOID:0060695 hyperekplexia semapv:UnspecifiedMatching MONDO:0021022 hereditary hyperekplexia skos:exactMatch MEDGEN:904633 semapv:UnspecifiedMatching MONDO:0021022 hereditary hyperekplexia skos:exactMatch OMIMPS:149400 Hyperekplexia semapv:UnspecifiedMatching MONDO:0021022 hereditary hyperekplexia skos:exactMatch Orphanet:3197 Hereditary hyperekplexia semapv:UnspecifiedMatching MONDO:0021022 hereditary hyperekplexia skos:exactMatch SCTID:724351008 semapv:UnspecifiedMatching MONDO:0021022 hereditary hyperekplexia skos:exactMatch UMLS:C4084968 semapv:UnspecifiedMatching MONDO:0021022 hereditary hyperekplexia skos:exactMatch icd11.foundation:988250063 Hereditary hyperekplexia semapv:UnspecifiedMatching MONDO:0021023 complete androgen insensitivity syndrome skos:exactMatch DOID:0080775 complete androgen insensitivity syndrome semapv:UnspecifiedMatching MONDO:0021023 complete androgen insensitivity syndrome skos:exactMatch ICD10CM:E34.51 Complete androgen insensitivity syndrome semapv:UnspecifiedMatching MONDO:0021023 complete androgen insensitivity syndrome skos:exactMatch MEDGEN:183188 semapv:UnspecifiedMatching MONDO:0021023 complete androgen insensitivity syndrome skos:exactMatch NCIT:C120191 Complete Androgen Insensitivity Syndrome semapv:UnspecifiedMatching MONDO:0021023 complete androgen insensitivity syndrome skos:exactMatch Orphanet:99429 Complete androgen insensitivity syndrome semapv:UnspecifiedMatching MONDO:0021023 complete androgen insensitivity syndrome skos:exactMatch SCTID:368851000119102 semapv:UnspecifiedMatching MONDO:0021023 complete androgen insensitivity syndrome skos:exactMatch UMLS:C0936016 semapv:UnspecifiedMatching MONDO:0021024 malaria, susceptibility to skos:exactMatch MEDGEN:370149 semapv:UnspecifiedMatching MONDO:0021024 malaria, susceptibility to skos:exactMatch OMIM:611162 malaria, susceptibility to semapv:UnspecifiedMatching MONDO:0021024 malaria, susceptibility to skos:exactMatch UMLS:C1970028 semapv:UnspecifiedMatching MONDO:0021025 cirrhosis, familial, with antigenemia skos:exactMatch MEDGEN:1875236 semapv:UnspecifiedMatching MONDO:0021025 cirrhosis, familial, with antigenemia skos:exactMatch OMIM:118900 cirrhosis, familial semapv:UnspecifiedMatching MONDO:0021025 cirrhosis, familial, with antigenemia skos:exactMatch UMLS:C5975708 semapv:UnspecifiedMatching MONDO:0021026 hereditary epidermal appendage anomaly skos:exactMatch MEDGEN:1843118 semapv:UnspecifiedMatching MONDO:0021026 hereditary epidermal appendage anomaly skos:exactMatch Orphanet:183447 Genetic epidermal appendage anomaly semapv:UnspecifiedMatching MONDO:0021026 hereditary epidermal appendage anomaly skos:exactMatch UMLS:C5680583 semapv:UnspecifiedMatching MONDO:0021027 obsolete genetic hair anomaly skos:exactMatch Orphanet:183450 Genetic hair anomaly semapv:UnspecifiedMatching MONDO:0021028 obsolete genetic nail anomaly skos:exactMatch Orphanet:183454 Genetic nail anomaly semapv:UnspecifiedMatching MONDO:0021029 hereditary sebaceous gland anomaly skos:exactMatch MEDGEN:1843175 semapv:UnspecifiedMatching MONDO:0021029 hereditary sebaceous gland anomaly skos:exactMatch Orphanet:183460 Genetic sebaceous gland anomaly semapv:UnspecifiedMatching MONDO:0021029 hereditary sebaceous gland anomaly skos:exactMatch UMLS:C5680577 semapv:UnspecifiedMatching MONDO:0021032 herpes zoster with dermatitis of eyelid skos:exactMatch MEDGEN:42438 semapv:UnspecifiedMatching MONDO:0021032 herpes zoster with dermatitis of eyelid skos:exactMatch NCIT:C34696 Herpes Zoster Dermatitis of Eyelid semapv:UnspecifiedMatching MONDO:0021032 herpes zoster with dermatitis of eyelid skos:exactMatch SCTID:186525007 semapv:UnspecifiedMatching MONDO:0021032 herpes zoster with dermatitis of eyelid skos:exactMatch UMLS:C0019362 semapv:UnspecifiedMatching MONDO:0021033 herpes zoster dermatitis skos:exactMatch MEDGEN:208894 semapv:UnspecifiedMatching MONDO:0021033 herpes zoster dermatitis skos:exactMatch NCIT:C35619 Herpes Zoster Dermatitis semapv:UnspecifiedMatching MONDO:0021033 herpes zoster dermatitis skos:exactMatch UMLS:C0854330 semapv:UnspecifiedMatching MONDO:0021034 obsolete hereditary alopecia skos:exactMatch Orphanet:481771 Genetic alopecia semapv:UnspecifiedMatching MONDO:0021035 alopecia-intellectual disability syndrome 1 skos:exactMatch DOID:0080628 alopecia-mental retardation syndrome 1 semapv:UnspecifiedMatching MONDO:0021035 alopecia-intellectual disability syndrome 1 skos:exactMatch MEDGEN:349263 semapv:UnspecifiedMatching MONDO:0021035 alopecia-intellectual disability syndrome 1 skos:exactMatch OMIM:203650 alopecia-intellectual disability syndrome 1 semapv:UnspecifiedMatching MONDO:0021035 alopecia-intellectual disability syndrome 1 skos:exactMatch UMLS:C1859878 semapv:UnspecifiedMatching MONDO:0021036 keratosis pilaris skos:exactMatch MEDGEN:82664 semapv:UnspecifiedMatching MONDO:0021036 keratosis pilaris skos:exactMatch NCIT:C124070 Keratosis Pilaris semapv:UnspecifiedMatching MONDO:0021036 keratosis pilaris skos:exactMatch SCTID:5132005 semapv:UnspecifiedMatching MONDO:0021036 keratosis pilaris skos:exactMatch UMLS:C0263383 semapv:UnspecifiedMatching MONDO:0021036 keratosis pilaris skos:exactMatch icd11.foundation:1614890502 Keratosis pilaris semapv:UnspecifiedMatching MONDO:0021037 obsolete genetic neurodegenerative disease with dementia skos:exactMatch Orphanet:276058 Genetic neurodegenerative disease with dementia semapv:UnspecifiedMatching MONDO:0021038 Ewing sarcoma/peripheral primitive neuroectodermal tumor skos:exactMatch MEDGEN:760735 semapv:UnspecifiedMatching MONDO:0021038 Ewing sarcoma/peripheral primitive neuroectodermal tumor skos:exactMatch NCIT:C27291 Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor semapv:UnspecifiedMatching MONDO:0021038 Ewing sarcoma/peripheral primitive neuroectodermal tumor skos:exactMatch UMLS:C3536893 semapv:UnspecifiedMatching MONDO:0021039 extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor skos:exactMatch DOID:4985 extraosseous Ewings sarcoma-primitive neuroepithelial tumor semapv:UnspecifiedMatching MONDO:0021039 extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor skos:exactMatch EFO:1000250 semapv:UnspecifiedMatching MONDO:0021039 extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor skos:exactMatch MEDGEN:232170 semapv:UnspecifiedMatching MONDO:0021039 extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor skos:exactMatch NCIT:C27293 Extraskeletal Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor semapv:UnspecifiedMatching MONDO:0021039 extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor skos:exactMatch UMLS:C1333514 semapv:UnspecifiedMatching MONDO:0021040 pancreatic neoplasm skos:exactMatch EFO:0003860 semapv:UnspecifiedMatching MONDO:0021040 pancreatic neoplasm skos:exactMatch MEDGEN:18279 semapv:UnspecifiedMatching MONDO:0021040 pancreatic neoplasm skos:exactMatch NCIT:C3305 Pancreatic Neoplasm semapv:UnspecifiedMatching MONDO:0021040 pancreatic neoplasm skos:exactMatch SCTID:126859007 semapv:UnspecifiedMatching MONDO:0021040 pancreatic neoplasm skos:exactMatch UMLS:C0030297 semapv:UnspecifiedMatching MONDO:0021040 pancreatic neoplasm skos:exactMatch mesh:D010190 semapv:UnspecifiedMatching MONDO:0021041 pleural solitary fibrous tumor skos:exactMatch NCIT:C4457 Pleural Solitary Fibrous Tumor semapv:UnspecifiedMatching MONDO:0021041 pleural solitary fibrous tumor skos:exactMatch SCTID:254646001 semapv:UnspecifiedMatching MONDO:0021042 glioma skos:exactMatch EFO:0005543 semapv:UnspecifiedMatching MONDO:0021042 glioma skos:exactMatch MEDGEN:9030 semapv:UnspecifiedMatching MONDO:0021042 glioma skos:exactMatch NCIT:C3059 Glioma semapv:UnspecifiedMatching MONDO:0021042 glioma skos:exactMatch Orphanet:182067 Glial tumor semapv:UnspecifiedMatching MONDO:0021042 glioma skos:exactMatch SCTID:393564001 semapv:UnspecifiedMatching MONDO:0021042 glioma skos:exactMatch UMLS:C0017638 semapv:UnspecifiedMatching MONDO:0021042 glioma skos:exactMatch mesh:D005910 semapv:UnspecifiedMatching MONDO:0021043 mixed neoplasm skos:exactMatch MEDGEN:234575 semapv:UnspecifiedMatching MONDO:0021043 mixed neoplasm skos:exactMatch NCIT:C6930 Mixed Neoplasm semapv:UnspecifiedMatching MONDO:0021043 mixed neoplasm skos:exactMatch UMLS:C1368354 semapv:UnspecifiedMatching MONDO:0021043 mixed neoplasm skos:exactMatch mesh:D018193 semapv:UnspecifiedMatching MONDO:0021045 fibroepithelial neoplasm skos:exactMatch EFO:0007271 semapv:UnspecifiedMatching MONDO:0021045 fibroepithelial neoplasm skos:exactMatch MEDGEN:104908 semapv:UnspecifiedMatching MONDO:0021045 fibroepithelial neoplasm skos:exactMatch NCIT:C3743 Fibroepithelial Neoplasm semapv:UnspecifiedMatching MONDO:0021045 fibroepithelial neoplasm skos:exactMatch UMLS:C0206649 semapv:UnspecifiedMatching MONDO:0021045 fibroepithelial neoplasm skos:exactMatch mesh:D018225 semapv:UnspecifiedMatching MONDO:0021046 breast fibroepithelial neoplasm skos:exactMatch MEDGEN:267408 semapv:UnspecifiedMatching MONDO:0021046 breast fibroepithelial neoplasm skos:exactMatch NCIT:C40405 Breast Fibroepithelial Neoplasm semapv:UnspecifiedMatching MONDO:0021046 breast fibroepithelial neoplasm skos:exactMatch UMLS:C1511309 semapv:UnspecifiedMatching MONDO:0021047 breast phyllodes tumor skos:exactMatch MEDGEN:65943 semapv:UnspecifiedMatching MONDO:0021047 breast phyllodes tumor skos:exactMatch NCIT:C7575 Breast Phyllodes Tumor semapv:UnspecifiedMatching MONDO:0021047 breast phyllodes tumor skos:exactMatch SCTID:712989008 semapv:UnspecifiedMatching MONDO:0021047 breast phyllodes tumor skos:exactMatch UMLS:C0238031 semapv:UnspecifiedMatching MONDO:0021048 benign mastocytoma skos:exactMatch DOID:4658 benign mastocytoma semapv:UnspecifiedMatching MONDO:0021048 benign mastocytoma skos:exactMatch MEDGEN:384518 semapv:UnspecifiedMatching MONDO:0021048 benign mastocytoma skos:exactMatch NCIT:C3217 Mastocytoma of the Skin semapv:UnspecifiedMatching MONDO:0021048 benign mastocytoma skos:exactMatch UMLS:C2242987 semapv:UnspecifiedMatching MONDO:0021049 vulvar neoplasm skos:exactMatch MEDGEN:22689 semapv:UnspecifiedMatching MONDO:0021049 vulvar neoplasm skos:exactMatch NCIT:C3443 Vulvar Neoplasm semapv:UnspecifiedMatching MONDO:0021049 vulvar neoplasm skos:exactMatch SCTID:126922007 semapv:UnspecifiedMatching MONDO:0021049 vulvar neoplasm skos:exactMatch UMLS:C0042995 semapv:UnspecifiedMatching MONDO:0021050 vaginal neoplasm skos:exactMatch EFO:1001447 semapv:UnspecifiedMatching MONDO:0021050 vaginal neoplasm skos:exactMatch MEDGEN:22608 semapv:UnspecifiedMatching MONDO:0021050 vaginal neoplasm skos:exactMatch NCIT:C3437 Vaginal Neoplasm semapv:UnspecifiedMatching MONDO:0021050 vaginal neoplasm skos:exactMatch SCTID:126921000 semapv:UnspecifiedMatching MONDO:0021050 vaginal neoplasm skos:exactMatch UMLS:C0042258 semapv:UnspecifiedMatching MONDO:0021052 parasympathetic paraganglioma skos:exactMatch MEDGEN:90779 semapv:UnspecifiedMatching MONDO:0021052 parasympathetic paraganglioma skos:exactMatch NCIT:C4217 Parasympathetic Paraganglioma semapv:UnspecifiedMatching MONDO:0021052 parasympathetic paraganglioma skos:exactMatch UMLS:C0334416 semapv:UnspecifiedMatching MONDO:0021053 carotid body paraganglioma skos:exactMatch MEDGEN:2853 semapv:UnspecifiedMatching MONDO:0021053 carotid body paraganglioma skos:exactMatch NCIT:C2932 Carotid Body Paraganglioma semapv:UnspecifiedMatching MONDO:0021053 carotid body paraganglioma skos:exactMatch UMLS:C0007279 semapv:UnspecifiedMatching MONDO:0021053 carotid body paraganglioma skos:exactMatch mesh:D002345 semapv:UnspecifiedMatching MONDO:0021054 bone sarcoma skos:exactMatch DOID:0080639 bone sarcoma semapv:UnspecifiedMatching MONDO:0021054 bone sarcoma skos:exactMatch MEDGEN:352831 semapv:UnspecifiedMatching MONDO:0021054 bone sarcoma skos:exactMatch NCIT:C9312 Bone Sarcoma semapv:UnspecifiedMatching MONDO:0021054 bone sarcoma skos:exactMatch Orphanet:223727 Bone sarcoma semapv:UnspecifiedMatching MONDO:0021054 bone sarcoma skos:exactMatch SCTID:448710000 semapv:UnspecifiedMatching MONDO:0021054 bone sarcoma skos:exactMatch UMLS:C1704327 semapv:UnspecifiedMatching MONDO:0021055 classic familial adenomatous polyposis skos:exactMatch DOID:0050424 familial adenomatous polyposis semapv:UnspecifiedMatching MONDO:0021055 classic familial adenomatous polyposis skos:exactMatch MEDGEN:46010 semapv:UnspecifiedMatching MONDO:0021055 classic familial adenomatous polyposis skos:exactMatch NCIT:C3339 Familial Adenomatous Polyposis semapv:UnspecifiedMatching MONDO:0021055 classic familial adenomatous polyposis skos:exactMatch OMIMPS:175100 Familial adenomatous polyposis semapv:UnspecifiedMatching MONDO:0021055 classic familial adenomatous polyposis skos:exactMatch Orphanet:733 Familial adenomatous polyposis semapv:UnspecifiedMatching MONDO:0021055 classic familial adenomatous polyposis skos:exactMatch SCTID:72900001 semapv:UnspecifiedMatching MONDO:0021055 classic familial adenomatous polyposis skos:exactMatch UMLS:C0032580 semapv:UnspecifiedMatching MONDO:0021056 familial adenomatous polyposis 1 skos:exactMatch DOID:0080409 familial adenomatous polyposis 1 semapv:UnspecifiedMatching MONDO:0021056 familial adenomatous polyposis 1 skos:exactMatch MEDGEN:398651 semapv:UnspecifiedMatching MONDO:0021056 familial adenomatous polyposis 1 skos:exactMatch OMIM:175100 familial adenomatous polyposis 1 semapv:UnspecifiedMatching MONDO:0021056 familial adenomatous polyposis 1 skos:exactMatch UMLS:C2713442 semapv:UnspecifiedMatching MONDO:0021058 neoplastic syndrome skos:exactMatch MEDGEN:362147 semapv:UnspecifiedMatching MONDO:0021058 neoplastic syndrome skos:exactMatch NCIT:C54705 Neoplastic Syndrome semapv:UnspecifiedMatching MONDO:0021058 neoplastic syndrome skos:exactMatch UMLS:C1882062 semapv:UnspecifiedMatching MONDO:0021059 obsolete head or neck disorder/disorder skos:exactMatch NCIT:C27571 Head and Neck Disorder semapv:UnspecifiedMatching MONDO:0021060 RASopathy skos:exactMatch DOID:0080690 RASopathy semapv:UnspecifiedMatching MONDO:0021060 RASopathy skos:exactMatch EFO:1001502 semapv:UnspecifiedMatching MONDO:0021060 RASopathy skos:exactMatch MEDGEN:1792298 semapv:UnspecifiedMatching MONDO:0021060 RASopathy skos:exactMatch NCIT:C179667 RASopathy semapv:UnspecifiedMatching MONDO:0021060 RASopathy skos:exactMatch Orphanet:536391 RASopathy semapv:UnspecifiedMatching MONDO:0021060 RASopathy skos:exactMatch UMLS:C5555857 semapv:UnspecifiedMatching MONDO:0021061 neurofibromatosis skos:exactMatch DOID:8712 neurofibromatosis semapv:UnspecifiedMatching MONDO:0021061 neurofibromatosis skos:exactMatch EFO:0008514 semapv:UnspecifiedMatching MONDO:0021061 neurofibromatosis skos:exactMatch ICD10CM:Q85.0 Neurofibromatosis (nonmalignant) semapv:UnspecifiedMatching MONDO:0021061 neurofibromatosis skos:exactMatch MEDGEN:58149 semapv:UnspecifiedMatching MONDO:0021061 neurofibromatosis skos:exactMatch NCIT:C6727 Neurofibromatosis semapv:UnspecifiedMatching MONDO:0021061 neurofibromatosis skos:exactMatch SCTID:19133005 semapv:UnspecifiedMatching MONDO:0021061 neurofibromatosis skos:exactMatch UMLS:C0162678 semapv:UnspecifiedMatching MONDO:0021061 neurofibromatosis skos:exactMatch mesh:D017253 semapv:UnspecifiedMatching MONDO:0021062 obsolete hereditary acrokeratotic poikiloderma of Kindler-Weary skos:exactMatch Orphanet:306539 OBSOLETE: Hereditary acrokeratotic poikiloderma of Kindler-Weary semapv:UnspecifiedMatching MONDO:0021063 malignant colon neoplasm skos:exactMatch DOID:219 colon cancer semapv:UnspecifiedMatching MONDO:0021063 malignant colon neoplasm skos:exactMatch ICD10CM:C18 Malignant neoplasm of colon semapv:UnspecifiedMatching MONDO:0021063 malignant colon neoplasm skos:exactMatch MEDGEN:2839 semapv:UnspecifiedMatching MONDO:0021063 malignant colon neoplasm skos:exactMatch NCIT:C9242 Malignant Colon Neoplasm semapv:UnspecifiedMatching MONDO:0021063 malignant colon neoplasm skos:exactMatch SCTID:363406005 semapv:UnspecifiedMatching MONDO:0021063 malignant colon neoplasm skos:exactMatch UMLS:C0007102 semapv:UnspecifiedMatching MONDO:0021063 malignant colon neoplasm skos:exactMatch icd11.foundation:1265576634 Malignant neoplasms of colon semapv:UnspecifiedMatching MONDO:0021064 jugulotympanic paraganglioma skos:exactMatch MEDGEN:4905 semapv:UnspecifiedMatching MONDO:0021064 jugulotympanic paraganglioma skos:exactMatch NCIT:C3061 Jugulotympanic Paraganglioma semapv:UnspecifiedMatching MONDO:0021064 jugulotympanic paraganglioma skos:exactMatch SCTID:127030001 semapv:UnspecifiedMatching MONDO:0021064 jugulotympanic paraganglioma skos:exactMatch UMLS:C0017671 semapv:UnspecifiedMatching MONDO:0021065 pleural neoplasm skos:exactMatch MEDGEN:18523 semapv:UnspecifiedMatching MONDO:0021065 pleural neoplasm skos:exactMatch NCIT:C3332 Pleural Neoplasm semapv:UnspecifiedMatching MONDO:0021065 pleural neoplasm skos:exactMatch SCTID:126719004 semapv:UnspecifiedMatching MONDO:0021065 pleural neoplasm skos:exactMatch UMLS:C0032229 semapv:UnspecifiedMatching MONDO:0021065 pleural neoplasm skos:exactMatch mesh:D010997 semapv:UnspecifiedMatching MONDO:0021066 urinary system neoplasm skos:exactMatch MEDGEN:52949 semapv:UnspecifiedMatching MONDO:0021066 urinary system neoplasm skos:exactMatch NCIT:C192666 Urinary Tract Neoplasm semapv:UnspecifiedMatching MONDO:0021066 urinary system neoplasm skos:exactMatch NCIT:C3431 Urinary System Neoplasm semapv:UnspecifiedMatching MONDO:0021066 urinary system neoplasm skos:exactMatch SCTID:126879004 semapv:UnspecifiedMatching MONDO:0021066 urinary system neoplasm skos:exactMatch UMLS:C0042076 semapv:UnspecifiedMatching MONDO:0021067 mediastinal germ cell tumor skos:exactMatch MEDGEN:233678 semapv:UnspecifiedMatching MONDO:0021067 mediastinal germ cell tumor skos:exactMatch NCIT:C6437 Mediastinal Germ Cell Tumor semapv:UnspecifiedMatching MONDO:0021067 mediastinal germ cell tumor skos:exactMatch UMLS:C1334655 semapv:UnspecifiedMatching MONDO:0021068 ovarian neoplasm skos:exactMatch EFO:0003893 semapv:UnspecifiedMatching MONDO:0021068 ovarian neoplasm skos:exactMatch MEDGEN:181539 semapv:UnspecifiedMatching MONDO:0021068 ovarian neoplasm skos:exactMatch NCIT:C4984 Ovarian Neoplasm semapv:UnspecifiedMatching MONDO:0021068 ovarian neoplasm skos:exactMatch SCTID:123843001 semapv:UnspecifiedMatching MONDO:0021068 ovarian neoplasm skos:exactMatch UMLS:C0919267 semapv:UnspecifiedMatching MONDO:0021069 malignant endocrine neoplasm skos:exactMatch DOID:170 endocrine gland cancer semapv:UnspecifiedMatching MONDO:0021069 malignant endocrine neoplasm skos:exactMatch MEDGEN:56319 semapv:UnspecifiedMatching MONDO:0021069 malignant endocrine neoplasm skos:exactMatch NCIT:C3575 Malignant Endocrine Neoplasm semapv:UnspecifiedMatching MONDO:0021069 malignant endocrine neoplasm skos:exactMatch UMLS:C0153658 semapv:UnspecifiedMatching MONDO:0021069 malignant endocrine neoplasm skos:exactMatch mesh:D004701 semapv:UnspecifiedMatching MONDO:0021070 sublingual gland carcinoma skos:exactMatch MEDGEN:83385 semapv:UnspecifiedMatching MONDO:0021070 sublingual gland carcinoma skos:exactMatch NCIT:C8397 Sublingual Gland Carcinoma semapv:UnspecifiedMatching MONDO:0021070 sublingual gland carcinoma skos:exactMatch SCTID:254466003 semapv:UnspecifiedMatching MONDO:0021070 sublingual gland carcinoma skos:exactMatch UMLS:C0345611 semapv:UnspecifiedMatching MONDO:0021071 laryngeal neoplasm skos:exactMatch EFO:0003817 semapv:UnspecifiedMatching MONDO:0021071 laryngeal neoplasm skos:exactMatch MEDGEN:7271 semapv:UnspecifiedMatching MONDO:0021071 laryngeal neoplasm skos:exactMatch NCIT:C3156 Laryngeal Neoplasm semapv:UnspecifiedMatching MONDO:0021071 laryngeal neoplasm skos:exactMatch SCTID:126692004 semapv:UnspecifiedMatching MONDO:0021071 laryngeal neoplasm skos:exactMatch UMLS:C0023055 semapv:UnspecifiedMatching MONDO:0021071 laryngeal neoplasm skos:exactMatch mesh:D007822 semapv:UnspecifiedMatching MONDO:0021072 sympathetic paraganglioma skos:exactMatch MEDGEN:137758 semapv:UnspecifiedMatching MONDO:0021072 sympathetic paraganglioma skos:exactMatch NCIT:C4216 Sympathetic Paraganglioma semapv:UnspecifiedMatching MONDO:0021072 sympathetic paraganglioma skos:exactMatch SCTID:399343007 semapv:UnspecifiedMatching MONDO:0021072 sympathetic paraganglioma skos:exactMatch UMLS:C0334415 semapv:UnspecifiedMatching MONDO:0021072 sympathetic paraganglioma skos:exactMatch mesh:C531777 semapv:UnspecifiedMatching MONDO:0021073 paraneoplastic syndrome skos:exactMatch MEDGEN:45320 semapv:UnspecifiedMatching MONDO:0021073 paraneoplastic syndrome skos:exactMatch NCIT:C3311 Paraneoplastic Syndrome semapv:UnspecifiedMatching MONDO:0021073 paraneoplastic syndrome skos:exactMatch SCTID:49783001 semapv:UnspecifiedMatching MONDO:0021073 paraneoplastic syndrome skos:exactMatch UMLS:C0030472 semapv:UnspecifiedMatching MONDO:0021073 paraneoplastic syndrome skos:exactMatch mesh:D010257 semapv:UnspecifiedMatching MONDO:0021074 precancerous condition skos:exactMatch MEDGEN:19442 semapv:UnspecifiedMatching MONDO:0021074 precancerous condition skos:exactMatch NCIT:C3341 Precancerous Condition semapv:UnspecifiedMatching MONDO:0021074 precancerous condition skos:exactMatch UMLS:C0032927 semapv:UnspecifiedMatching MONDO:0021074 precancerous condition skos:exactMatch mesh:D011230 semapv:UnspecifiedMatching MONDO:0021075 neoplastic polyp skos:exactMatch MEDGEN:233751 semapv:UnspecifiedMatching MONDO:0021075 neoplastic polyp skos:exactMatch NCIT:C7068 Neoplastic Polyp semapv:UnspecifiedMatching MONDO:0021075 neoplastic polyp skos:exactMatch UMLS:C1334941 semapv:UnspecifiedMatching MONDO:0021076 pancreatic exocrine neoplasm skos:exactMatch MEDGEN:138030 semapv:UnspecifiedMatching MONDO:0021076 pancreatic exocrine neoplasm skos:exactMatch NCIT:C4445 Pancreatic Exocrine Neoplasm semapv:UnspecifiedMatching MONDO:0021076 pancreatic exocrine neoplasm skos:exactMatch SCTID:254604005 semapv:UnspecifiedMatching MONDO:0021076 pancreatic exocrine neoplasm skos:exactMatch UMLS:C0345920 semapv:UnspecifiedMatching MONDO:0021077 cystic neoplasm skos:exactMatch MEDGEN:232404 semapv:UnspecifiedMatching MONDO:0021077 cystic neoplasm skos:exactMatch NCIT:C6784 Cystic Neoplasm semapv:UnspecifiedMatching MONDO:0021077 cystic neoplasm skos:exactMatch UMLS:C1333190 semapv:UnspecifiedMatching MONDO:0021078 glandular papilloma skos:exactMatch MEDGEN:482986 semapv:UnspecifiedMatching MONDO:0021078 glandular papilloma skos:exactMatch NCIT:C6880 Glandular Papilloma semapv:UnspecifiedMatching MONDO:0021078 glandular papilloma skos:exactMatch UMLS:C3282896 semapv:UnspecifiedMatching MONDO:0021079 childhood neoplasm skos:exactMatch MEDGEN:237153 semapv:UnspecifiedMatching MONDO:0021079 childhood neoplasm skos:exactMatch NCIT:C6283 Childhood Neoplasm semapv:UnspecifiedMatching MONDO:0021079 childhood neoplasm skos:exactMatch UMLS:C1368871 semapv:UnspecifiedMatching MONDO:0021080 blood vessel neoplasm skos:exactMatch MEDGEN:1651181 semapv:UnspecifiedMatching MONDO:0021080 blood vessel neoplasm skos:exactMatch NCIT:C7387 Blood Vessel Neoplasm semapv:UnspecifiedMatching MONDO:0021080 blood vessel neoplasm skos:exactMatch SCTID:126736007 semapv:UnspecifiedMatching MONDO:0021080 blood vessel neoplasm skos:exactMatch UMLS:C4722524 semapv:UnspecifiedMatching MONDO:0021081 anti-NMDA receptor encephalitis skos:exactMatch MEDGEN:458943 semapv:UnspecifiedMatching MONDO:0021081 anti-NMDA receptor encephalitis skos:exactMatch NCIT:C94853 Anti-NMDA Receptor Encephalitis semapv:UnspecifiedMatching MONDO:0021081 anti-NMDA receptor encephalitis skos:exactMatch Orphanet:217253 NMDA receptor encephalitis semapv:UnspecifiedMatching MONDO:0021081 anti-NMDA receptor encephalitis skos:exactMatch SCTID:716684004 semapv:UnspecifiedMatching MONDO:0021081 anti-NMDA receptor encephalitis skos:exactMatch UMLS:C2986717 semapv:UnspecifiedMatching MONDO:0021081 anti-NMDA receptor encephalitis skos:exactMatch icd11.foundation:1568915618 Anti-NMDA receptor encephalitis semapv:UnspecifiedMatching MONDO:0021081 anti-NMDA receptor encephalitis skos:exactMatch mesh:D060426 semapv:UnspecifiedMatching MONDO:0021082 Meckel diverticulum neoplasm skos:exactMatch MEDGEN:577167 semapv:UnspecifiedMatching MONDO:0021082 Meckel diverticulum neoplasm skos:exactMatch SCTID:126836001 semapv:UnspecifiedMatching MONDO:0021082 Meckel diverticulum neoplasm skos:exactMatch UMLS:C0345839 semapv:UnspecifiedMatching MONDO:0021083 congenital fibrosis of extraocular muscles type 1 skos:exactMatch DOID:0081015 congenital fibrosis of the extraocular muscles 1 semapv:UnspecifiedMatching MONDO:0021083 congenital fibrosis of extraocular muscles type 1 skos:exactMatch MEDGEN:376943 semapv:UnspecifiedMatching MONDO:0021083 congenital fibrosis of extraocular muscles type 1 skos:exactMatch OMIM:135700 fibrosis of extraocular muscles, congenital, 1 semapv:UnspecifiedMatching MONDO:0021083 congenital fibrosis of extraocular muscles type 1 skos:exactMatch UMLS:C1851102 semapv:UnspecifiedMatching MONDO:0021084 vision disorder skos:exactMatch MEDGEN:12103 semapv:UnspecifiedMatching MONDO:0021084 vision disorder skos:exactMatch NCIT:C35126 Vision Disorder semapv:UnspecifiedMatching MONDO:0021084 vision disorder skos:exactMatch SCTID:95677002 semapv:UnspecifiedMatching MONDO:0021084 vision disorder skos:exactMatch UMLS:C0042790 semapv:UnspecifiedMatching MONDO:0021084 vision disorder skos:exactMatch mesh:D014786 semapv:UnspecifiedMatching MONDO:0021085 gastric neoplasm skos:exactMatch EFO:0003897 semapv:UnspecifiedMatching MONDO:0021085 gastric neoplasm skos:exactMatch MEDGEN:20958 semapv:UnspecifiedMatching MONDO:0021085 gastric neoplasm skos:exactMatch NCIT:C3387 carbamazepine semapv:UnspecifiedMatching MONDO:0021085 gastric neoplasm skos:exactMatch SCTID:126824007 semapv:UnspecifiedMatching MONDO:0021085 gastric neoplasm skos:exactMatch UMLS:C0038356 semapv:UnspecifiedMatching MONDO:0021085 gastric neoplasm skos:exactMatch mesh:D013274 semapv:UnspecifiedMatching MONDO:0021086 gingival neoplasm skos:exactMatch MEDGEN:6605 semapv:UnspecifiedMatching MONDO:0021086 gingival neoplasm skos:exactMatch NCIT:C3057 Gingival Neoplasm semapv:UnspecifiedMatching MONDO:0021086 gingival neoplasm skos:exactMatch SCTID:126792007 semapv:UnspecifiedMatching MONDO:0021086 gingival neoplasm skos:exactMatch UMLS:C0017570 semapv:UnspecifiedMatching MONDO:0021088 papillary meningioma skos:exactMatch MEDGEN:463642 semapv:UnspecifiedMatching MONDO:0021088 papillary meningioma skos:exactMatch NCIT:C3904 Papillary Meningioma semapv:UnspecifiedMatching MONDO:0021088 papillary meningioma skos:exactMatch UMLS:C3163622 semapv:UnspecifiedMatching MONDO:0021089 peripheral nervous system cancer skos:exactMatch MEDGEN:155556 semapv:UnspecifiedMatching MONDO:0021089 peripheral nervous system cancer skos:exactMatch NCIT:C4961 Malignant Peripheral Nervous System Neoplasm semapv:UnspecifiedMatching MONDO:0021089 peripheral nervous system cancer skos:exactMatch SCTID:254986007 semapv:UnspecifiedMatching MONDO:0021089 peripheral nervous system cancer skos:exactMatch UMLS:C0751428 semapv:UnspecifiedMatching MONDO:0021090 lipid-rich breast carcinoma skos:exactMatch DOID:7076 breast lipid-rich carcinoma semapv:UnspecifiedMatching MONDO:0021090 lipid-rich breast carcinoma skos:exactMatch MEDGEN:274685 semapv:UnspecifiedMatching MONDO:0021090 lipid-rich breast carcinoma skos:exactMatch NCIT:C40365 Breast Lipid-Rich Carcinoma semapv:UnspecifiedMatching MONDO:0021090 lipid-rich breast carcinoma skos:exactMatch UMLS:C1517894 semapv:UnspecifiedMatching MONDO:0021091 papillary cystadenoma skos:exactMatch MEDGEN:41386 semapv:UnspecifiedMatching MONDO:0021091 papillary cystadenoma skos:exactMatch NCIT:C2974 Papillary Cystadenoma semapv:UnspecifiedMatching MONDO:0021091 papillary cystadenoma skos:exactMatch UMLS:C0010636 semapv:UnspecifiedMatching MONDO:0021091 papillary cystadenoma skos:exactMatch mesh:D018292 semapv:UnspecifiedMatching MONDO:0021092 fallopian tube neoplasm skos:exactMatch MEDGEN:8775 semapv:UnspecifiedMatching MONDO:0021092 fallopian tube neoplasm skos:exactMatch NCIT:C3032 Fallopian Tube Neoplasm semapv:UnspecifiedMatching MONDO:0021092 fallopian tube neoplasm skos:exactMatch SCTID:126916003 semapv:UnspecifiedMatching MONDO:0021092 fallopian tube neoplasm skos:exactMatch UMLS:C0015558 semapv:UnspecifiedMatching MONDO:0021092 fallopian tube neoplasm skos:exactMatch mesh:D005185 semapv:UnspecifiedMatching MONDO:0021093 cranioectodermal dysplasia 1 skos:exactMatch DOID:0080803 cranioectodermal dysplasia 1 semapv:UnspecifiedMatching MONDO:0021093 cranioectodermal dysplasia 1 skos:exactMatch MEDGEN:96586 semapv:UnspecifiedMatching MONDO:0021093 cranioectodermal dysplasia 1 skos:exactMatch OMIM:218330 cranioectodermal dysplasia 1 semapv:UnspecifiedMatching MONDO:0021093 cranioectodermal dysplasia 1 skos:exactMatch UMLS:C0432235 semapv:UnspecifiedMatching MONDO:0021094 immunodeficiency disease skos:exactMatch MEDGEN:7034 semapv:UnspecifiedMatching MONDO:0021094 immunodeficiency disease skos:exactMatch NCIT:C3131 Immunodeficiency Syndrome semapv:UnspecifiedMatching MONDO:0021094 immunodeficiency disease skos:exactMatch OMIMPS:300755 Immunodeficiency (select examples) semapv:UnspecifiedMatching MONDO:0021094 immunodeficiency disease skos:exactMatch SCTID:234532001 semapv:UnspecifiedMatching MONDO:0021094 immunodeficiency disease skos:exactMatch UMLS:C0021051 semapv:UnspecifiedMatching MONDO:0021095 parkinsonian disorder skos:exactMatch DOID:0080855 Parkinsonism semapv:UnspecifiedMatching MONDO:0021095 parkinsonian disorder skos:exactMatch MEDGEN:66079 semapv:UnspecifiedMatching MONDO:0021095 parkinsonian disorder skos:exactMatch UMLS:C0242422 semapv:UnspecifiedMatching MONDO:0021095 parkinsonian disorder skos:exactMatch mesh:D020734 semapv:UnspecifiedMatching MONDO:0021096 papillary epithelial neoplasm skos:exactMatch MEDGEN:235456 semapv:UnspecifiedMatching MONDO:0021096 papillary epithelial neoplasm skos:exactMatch NCIT:C8429 Papillary Epithelial Neoplasm semapv:UnspecifiedMatching MONDO:0021096 papillary epithelial neoplasm skos:exactMatch UMLS:C1335324 semapv:UnspecifiedMatching MONDO:0021097 intraductal breast papilloma skos:exactMatch DOID:1626 breast duct papilloma semapv:UnspecifiedMatching MONDO:0021097 intraductal breast papilloma skos:exactMatch MEDGEN:65944 semapv:UnspecifiedMatching MONDO:0021097 intraductal breast papilloma skos:exactMatch NCIT:C3863 Breast Intraductal Papilloma semapv:UnspecifiedMatching MONDO:0021097 intraductal breast papilloma skos:exactMatch SCTID:254848002 semapv:UnspecifiedMatching MONDO:0021097 intraductal breast papilloma skos:exactMatch SCTID:99571000119102 semapv:UnspecifiedMatching MONDO:0021097 intraductal breast papilloma skos:exactMatch UMLS:C0238034 semapv:UnspecifiedMatching MONDO:0021098 papillomatosis skos:exactMatch MEDGEN:64459 semapv:UnspecifiedMatching MONDO:0021098 papillomatosis skos:exactMatch NCIT:C3713 Papillomatosis semapv:UnspecifiedMatching MONDO:0021098 papillomatosis skos:exactMatch UMLS:C0205875 semapv:UnspecifiedMatching MONDO:0021099 intraductal papillomatosis skos:exactMatch MEDGEN:90774 semapv:UnspecifiedMatching MONDO:0021099 intraductal papillomatosis skos:exactMatch NCIT:C7363 Intraductal Papillomatosis semapv:UnspecifiedMatching MONDO:0021099 intraductal papillomatosis skos:exactMatch UMLS:C0334377 semapv:UnspecifiedMatching MONDO:0021100 breast neoplasm skos:exactMatch EFO:0003869 semapv:UnspecifiedMatching MONDO:0021100 breast neoplasm skos:exactMatch MEDGEN:264172 semapv:UnspecifiedMatching MONDO:0021100 breast neoplasm skos:exactMatch NCIT:C2910 Breast Neoplasm semapv:UnspecifiedMatching MONDO:0021100 breast neoplasm skos:exactMatch SCTID:126926005 semapv:UnspecifiedMatching MONDO:0021100 breast neoplasm skos:exactMatch UMLS:C1458155 semapv:UnspecifiedMatching MONDO:0021100 breast neoplasm skos:exactMatch mesh:D001943 semapv:UnspecifiedMatching MONDO:0021101 appendix L-cell glucagon-like peptide-producing neuroendocrine tumor skos:exactMatch DOID:8151 appendiceal L-cell glucagon-like peptide producing tumor semapv:UnspecifiedMatching MONDO:0021101 appendix L-cell glucagon-like peptide-producing neuroendocrine tumor skos:exactMatch MEDGEN:475771 semapv:UnspecifiedMatching MONDO:0021101 appendix L-cell glucagon-like peptide-producing neuroendocrine tumor skos:exactMatch NCIT:C27445 Appendix L-Cell Glucagon-Like Peptide-Producing Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO:0021101 appendix L-cell glucagon-like peptide-producing neuroendocrine tumor skos:exactMatch UMLS:C3274138 semapv:UnspecifiedMatching MONDO:0021102 prostate phyllodes tumor skos:exactMatch MEDGEN:233326 semapv:UnspecifiedMatching MONDO:0021102 prostate phyllodes tumor skos:exactMatch NCIT:C7574 Prostate Phyllodes Tumor semapv:UnspecifiedMatching MONDO:0021102 prostate phyllodes tumor skos:exactMatch Orphanet:498228 Phyllodes tumor of the prostate semapv:UnspecifiedMatching MONDO:0021102 prostate phyllodes tumor skos:exactMatch UMLS:C1335409 semapv:UnspecifiedMatching MONDO:0021103 obsolete collagen diseases skos:exactMatch DOID:854 collagen disease semapv:UnspecifiedMatching MONDO:0021103 obsolete collagen diseases skos:exactMatch SCTID:81573002 semapv:UnspecifiedMatching MONDO:0021103 obsolete collagen diseases skos:exactMatch mesh:D003095 semapv:UnspecifiedMatching MONDO:0021104 alcoholic fatty liver disease skos:exactMatch ICD10CM:K70.0 Alcoholic fatty liver semapv:UnspecifiedMatching MONDO:0021104 alcoholic fatty liver disease skos:exactMatch MEDGEN:4666 semapv:UnspecifiedMatching MONDO:0021104 alcoholic fatty liver disease skos:exactMatch SCTID:50325005 semapv:UnspecifiedMatching MONDO:0021104 alcoholic fatty liver disease skos:exactMatch UMLS:C0015696 semapv:UnspecifiedMatching MONDO:0021104 alcoholic fatty liver disease skos:exactMatch icd11.foundation:1759668616 Alcoholic fatty liver semapv:UnspecifiedMatching MONDO:0021104 alcoholic fatty liver disease skos:exactMatch mesh:D005235 semapv:UnspecifiedMatching MONDO:0021105 NAFLD1 skos:exactMatch MEDGEN:413307 semapv:UnspecifiedMatching MONDO:0021105 NAFLD1 skos:exactMatch OMIM:613282 fatty liver disease, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0021105 NAFLD1 skos:exactMatch UMLS:C2750440 semapv:UnspecifiedMatching MONDO:0021106 laminopathy skos:exactMatch MEDGEN:1716073 semapv:UnspecifiedMatching MONDO:0021106 laminopathy skos:exactMatch Orphanet:98301 Laminopathy semapv:UnspecifiedMatching MONDO:0021106 laminopathy skos:exactMatch UMLS:C5392094 semapv:UnspecifiedMatching MONDO:0021106 laminopathy skos:exactMatch mesh:D000083083 semapv:UnspecifiedMatching MONDO:0021107 narcolepsy skos:exactMatch DOID:8986 narcolepsy semapv:UnspecifiedMatching MONDO:0021107 narcolepsy skos:exactMatch ICD10CM:G47.41 Narcolepsy semapv:UnspecifiedMatching MONDO:0021107 narcolepsy skos:exactMatch MEDGEN:45001 semapv:UnspecifiedMatching MONDO:0021107 narcolepsy skos:exactMatch NCIT:C84489 Narcolepsy semapv:UnspecifiedMatching MONDO:0021107 narcolepsy skos:exactMatch Orphanet:619284 Narcolepsy semapv:UnspecifiedMatching MONDO:0021107 narcolepsy skos:exactMatch SCTID:60380001 semapv:UnspecifiedMatching MONDO:0021107 narcolepsy skos:exactMatch UMLS:C0027404 semapv:UnspecifiedMatching MONDO:0021107 narcolepsy skos:exactMatch icd11.foundation:1201727099 Narcolepsy semapv:UnspecifiedMatching MONDO:0021107 narcolepsy skos:exactMatch mesh:D009290 semapv:UnspecifiedMatching MONDO:0021108 meningitis skos:exactMatch MEDGEN:6298 semapv:UnspecifiedMatching MONDO:0021108 meningitis skos:exactMatch NCIT:C26828 Meningitis semapv:UnspecifiedMatching MONDO:0021108 meningitis skos:exactMatch SCTID:7180009 semapv:UnspecifiedMatching MONDO:0021108 meningitis skos:exactMatch UMLS:C0025289 semapv:UnspecifiedMatching MONDO:0021108 meningitis skos:exactMatch mesh:D008581 semapv:UnspecifiedMatching MONDO:0021109 inverted urothelial papilloma skos:exactMatch MEDGEN:233583 semapv:UnspecifiedMatching MONDO:0021109 inverted urothelial papilloma skos:exactMatch NCIT:C6192 Inverted Urothelial Papilloma semapv:UnspecifiedMatching MONDO:0021109 inverted urothelial papilloma skos:exactMatch UMLS:C1334282 semapv:UnspecifiedMatching MONDO:0021110 sweat gland adenoma skos:exactMatch MEDGEN:5551 semapv:UnspecifiedMatching MONDO:0021110 sweat gland adenoma skos:exactMatch NCIT:C7560 Sweat Gland Adenoma semapv:UnspecifiedMatching MONDO:0021110 sweat gland adenoma skos:exactMatch UMLS:C0019522 semapv:UnspecifiedMatching MONDO:0021111 ureter neoplasm skos:exactMatch EFO:0003844 semapv:UnspecifiedMatching MONDO:0021111 ureter neoplasm skos:exactMatch MEDGEN:12011 semapv:UnspecifiedMatching MONDO:0021111 ureter neoplasm skos:exactMatch NCIT:C3427 Ureter Neoplasm semapv:UnspecifiedMatching MONDO:0021111 ureter neoplasm skos:exactMatch SCTID:126882009 semapv:UnspecifiedMatching MONDO:0021111 ureter neoplasm skos:exactMatch UMLS:C0041955 semapv:UnspecifiedMatching MONDO:0021112 scrotum cancer skos:exactMatch ICD10CM:C63.2 Malignant neoplasm of scrotum semapv:UnspecifiedMatching MONDO:0021112 scrotum cancer skos:exactMatch MEDGEN:57564 semapv:UnspecifiedMatching MONDO:0021112 scrotum cancer skos:exactMatch NCIT:C3560 Malignant Scrotal Neoplasm semapv:UnspecifiedMatching MONDO:0021112 scrotum cancer skos:exactMatch SCTID:363454002 semapv:UnspecifiedMatching MONDO:0021112 scrotum cancer skos:exactMatch UMLS:C0153604 semapv:UnspecifiedMatching MONDO:0021113 respiratory failure skos:exactMatch DOID:11162 respiratory failure semapv:UnspecifiedMatching MONDO:0021113 respiratory failure skos:exactMatch EFO:0009686 semapv:UnspecifiedMatching MONDO:0021113 respiratory failure skos:exactMatch MEDGEN:257837 semapv:UnspecifiedMatching MONDO:0021113 respiratory failure skos:exactMatch NCIT:C26872 Respiratory Failure semapv:UnspecifiedMatching MONDO:0021113 respiratory failure skos:exactMatch SCTID:39871006 semapv:UnspecifiedMatching MONDO:0021113 respiratory failure skos:exactMatch UMLS:C1145670 semapv:UnspecifiedMatching MONDO:0021113 respiratory failure skos:exactMatch icd11.foundation:370028006 Respiratory failure semapv:UnspecifiedMatching MONDO:0021113 respiratory failure skos:exactMatch mesh:D012131 semapv:UnspecifiedMatching MONDO:0021114 Bartholin gland neoplasm skos:exactMatch MEDGEN:65074 semapv:UnspecifiedMatching MONDO:0021114 Bartholin gland neoplasm skos:exactMatch NCIT:C6434 Bartholin Gland Neoplasm semapv:UnspecifiedMatching MONDO:0021114 Bartholin gland neoplasm skos:exactMatch UMLS:C0220616 semapv:UnspecifiedMatching MONDO:0021115 luminal B breast carcinoma skos:exactMatch DOID:0080674 luminal breast carcinoma B semapv:UnspecifiedMatching MONDO:0021115 luminal B breast carcinoma skos:exactMatch MEDGEN:770986 semapv:UnspecifiedMatching MONDO:0021115 luminal B breast carcinoma skos:exactMatch NCIT:C53555 Luminal B Breast Carcinoma semapv:UnspecifiedMatching MONDO:0021115 luminal B breast carcinoma skos:exactMatch UMLS:C3642346 semapv:UnspecifiedMatching MONDO:0021116 luminal A breast carcinoma skos:exactMatch MEDGEN:770985 semapv:UnspecifiedMatching MONDO:0021116 luminal A breast carcinoma skos:exactMatch NCIT:C53554 Luminal A Breast Carcinoma semapv:UnspecifiedMatching MONDO:0021116 luminal A breast carcinoma skos:exactMatch UMLS:C3642345 semapv:UnspecifiedMatching MONDO:0021117 lung neoplasm skos:exactMatch MEDGEN:7400 semapv:UnspecifiedMatching MONDO:0021117 lung neoplasm skos:exactMatch NCIT:C3200 Lung Neoplasm semapv:UnspecifiedMatching MONDO:0021117 lung neoplasm skos:exactMatch UMLS:C0024121 semapv:UnspecifiedMatching MONDO:0021117 lung neoplasm skos:exactMatch mesh:D008175 semapv:UnspecifiedMatching MONDO:0021118 intestinal neoplasm skos:exactMatch DOID:4610 intestinal benign neoplasm semapv:UnspecifiedMatching MONDO:0021118 intestinal neoplasm skos:exactMatch MEDGEN:43932 semapv:UnspecifiedMatching MONDO:0021118 intestinal neoplasm skos:exactMatch NCIT:C3141 Intestinal Neoplasm semapv:UnspecifiedMatching MONDO:0021118 intestinal neoplasm skos:exactMatch SCTID:126769007 semapv:UnspecifiedMatching MONDO:0021118 intestinal neoplasm skos:exactMatch UMLS:C0021841 semapv:UnspecifiedMatching MONDO:0021119 non-functioning endocrine neoplasm skos:exactMatch MEDGEN:458882 semapv:UnspecifiedMatching MONDO:0021119 non-functioning endocrine neoplasm skos:exactMatch NCIT:C94760 Non-Functioning Endocrine Neoplasm semapv:UnspecifiedMatching MONDO:0021119 non-functioning endocrine neoplasm skos:exactMatch UMLS:C2986656 semapv:UnspecifiedMatching MONDO:0021120 functioning endocrine neoplasm skos:exactMatch MEDGEN:458881 semapv:UnspecifiedMatching MONDO:0021120 functioning endocrine neoplasm skos:exactMatch NCIT:C94759 Functioning Endocrine Neoplasm semapv:UnspecifiedMatching MONDO:0021120 functioning endocrine neoplasm skos:exactMatch UMLS:C2986655 semapv:UnspecifiedMatching MONDO:0021121 hemangioendothelioma skos:exactMatch MEDGEN:42384 semapv:UnspecifiedMatching MONDO:0021121 hemangioendothelioma skos:exactMatch NCIT:C3084 Hemangioendothelioma semapv:UnspecifiedMatching MONDO:0021121 hemangioendothelioma skos:exactMatch SCTID:403980002 semapv:UnspecifiedMatching MONDO:0021121 hemangioendothelioma skos:exactMatch UMLS:C0018915 semapv:UnspecifiedMatching MONDO:0021121 hemangioendothelioma skos:exactMatch mesh:D006390 semapv:UnspecifiedMatching MONDO:0021123 Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone skos:exactMatch MEDGEN:272598 semapv:UnspecifiedMatching MONDO:0021123 Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone skos:exactMatch NCIT:C35871 Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor of Bone semapv:UnspecifiedMatching MONDO:0021123 Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone skos:exactMatch UMLS:C1333481 semapv:UnspecifiedMatching MONDO:0021124 female infertility skos:exactMatch EFO:0008560 semapv:UnspecifiedMatching MONDO:0021124 female infertility skos:exactMatch ICD10CM:N97 Female infertility semapv:UnspecifiedMatching MONDO:0021124 female infertility skos:exactMatch ICD10WHO:N97 Female infertility semapv:UnspecifiedMatching MONDO:0021124 female infertility skos:exactMatch MEDGEN:5795 semapv:UnspecifiedMatching MONDO:0021124 female infertility skos:exactMatch SCTID:6738008 semapv:UnspecifiedMatching MONDO:0021124 female infertility skos:exactMatch UMLS:C0021361 semapv:UnspecifiedMatching MONDO:0021124 female infertility skos:exactMatch icd11.foundation:1237004558 Female infertility semapv:UnspecifiedMatching MONDO:0021124 female infertility skos:exactMatch mesh:D007247 semapv:UnspecifiedMatching MONDO:0021125 disease characteristic skos:exactMatch NCIT:C41009 Qualifier semapv:UnspecifiedMatching MONDO:0021129 microphthalmia skos:exactMatch DOID:10629 microphthalmia semapv:UnspecifiedMatching MONDO:0021129 microphthalmia skos:exactMatch EFO:0005569 semapv:UnspecifiedMatching MONDO:0021129 microphthalmia skos:exactMatch MEDGEN:10033 semapv:UnspecifiedMatching MONDO:0021129 microphthalmia skos:exactMatch NCIT:C98989 Microphthalmos semapv:UnspecifiedMatching MONDO:0021129 microphthalmia skos:exactMatch SCTID:204108000 semapv:UnspecifiedMatching MONDO:0021129 microphthalmia skos:exactMatch UMLS:C0026010 semapv:UnspecifiedMatching MONDO:0021129 microphthalmia skos:exactMatch mesh:D008850 semapv:UnspecifiedMatching MONDO:0021131 frontal lobe ependymal tumor skos:exactMatch MEDGEN:1391114 semapv:UnspecifiedMatching MONDO:0021131 frontal lobe ependymal tumor skos:exactMatch NCIT:C131573 Frontal Lobe Ependymal Tumor semapv:UnspecifiedMatching MONDO:0021131 frontal lobe ependymal tumor skos:exactMatch UMLS:C4330009 semapv:UnspecifiedMatching MONDO:0021132 tertiary hyperparathyroidism skos:exactMatch MEDGEN:488837 semapv:UnspecifiedMatching MONDO:0021132 tertiary hyperparathyroidism skos:exactMatch NCIT:C114821 Tertiary Hyperparathyroidism semapv:UnspecifiedMatching MONDO:0021132 tertiary hyperparathyroidism skos:exactMatch SCTID:78200003 semapv:UnspecifiedMatching MONDO:0021132 tertiary hyperparathyroidism skos:exactMatch UMLS:C0271858 semapv:UnspecifiedMatching MONDO:0021132 tertiary hyperparathyroidism skos:exactMatch icd11.foundation:10683191 Tertiary hyperparathyroidism semapv:UnspecifiedMatching MONDO:0021133 acquired factor XIII deficiency skos:exactMatch MEDGEN:1393253 semapv:UnspecifiedMatching MONDO:0021133 acquired factor XIII deficiency skos:exactMatch NCIT:C131629 Acquired Factor XIII Deficiency semapv:UnspecifiedMatching MONDO:0021133 acquired factor XIII deficiency skos:exactMatch Orphanet:599513 Acquired factor XIII deficiency semapv:UnspecifiedMatching MONDO:0021133 acquired factor XIII deficiency skos:exactMatch UMLS:C0238120 semapv:UnspecifiedMatching MONDO:0021133 acquired factor XIII deficiency skos:exactMatch icd11.foundation:939366157 Acquired factor XIII deficiency semapv:UnspecifiedMatching MONDO:0021134 acquired factor X deficiency skos:exactMatch MEDGEN:543977 semapv:UnspecifiedMatching MONDO:0021134 acquired factor X deficiency skos:exactMatch NCIT:C131626 Acquired Factor X Deficiency semapv:UnspecifiedMatching MONDO:0021134 acquired factor X deficiency skos:exactMatch Orphanet:599501 Acquired factor X deficiency semapv:UnspecifiedMatching MONDO:0021134 acquired factor X deficiency skos:exactMatch SCTID:33820001 semapv:UnspecifiedMatching MONDO:0021134 acquired factor X deficiency skos:exactMatch UMLS:C0272328 semapv:UnspecifiedMatching MONDO:0021138 bone marrow cancer skos:exactMatch MEDGEN:438070 semapv:UnspecifiedMatching MONDO:0021138 bone marrow cancer skos:exactMatch NCIT:C35501 Malignant Bone Marrow Neoplasm semapv:UnspecifiedMatching MONDO:0021138 bone marrow cancer skos:exactMatch UMLS:C2703042 semapv:UnspecifiedMatching MONDO:0021140 congenital skos:exactMatch icd11.foundation:1048408993 semapv:UnspecifiedMatching MONDO:0021141 acquired skos:exactMatch Orphanet:409941 not genetically inherited semapv:UnspecifiedMatching MONDO:0021143 melanocytic neoplasm skos:exactMatch MEDGEN:224910 semapv:UnspecifiedMatching MONDO:0021143 melanocytic neoplasm skos:exactMatch NCIT:C7058 Melanocytic Neoplasm semapv:UnspecifiedMatching MONDO:0021143 melanocytic neoplasm skos:exactMatch SCTID:399956005 semapv:UnspecifiedMatching MONDO:0021143 melanocytic neoplasm skos:exactMatch UMLS:C1302746 semapv:UnspecifiedMatching MONDO:0021143 melanocytic neoplasm skos:exactMatch mesh:D018326 semapv:UnspecifiedMatching MONDO:0021144 ovarian clear cell tumor skos:exactMatch MEDGEN:138040 semapv:UnspecifiedMatching MONDO:0021144 ovarian clear cell tumor skos:exactMatch NCIT:C40076 Ovarian Clear Cell Tumor semapv:UnspecifiedMatching MONDO:0021144 ovarian clear cell tumor skos:exactMatch UMLS:C0346164 semapv:UnspecifiedMatching MONDO:0021145 obsolete disorder of genitourinary system skos:exactMatch ICD10CM:N00-N99 Diseases of the genitourinary system (N00-N99) semapv:UnspecifiedMatching MONDO:0021145 obsolete disorder of genitourinary system skos:exactMatch SCTID:42030000 semapv:UnspecifiedMatching MONDO:0021146 headache disorder skos:exactMatch EFO:0009550 semapv:UnspecifiedMatching MONDO:0021146 headache disorder skos:exactMatch MEDGEN:140743 semapv:UnspecifiedMatching MONDO:0021146 headache disorder skos:exactMatch SCTID:230461009 semapv:UnspecifiedMatching MONDO:0021146 headache disorder skos:exactMatch UMLS:C0393735 semapv:UnspecifiedMatching MONDO:0021146 headache disorder skos:exactMatch mesh:D020773 semapv:UnspecifiedMatching MONDO:0021147 disorder of development or morphogenesis skos:exactMatch ICD10CM:Q00-Q99 Congenital malformations, deformations and chromosomal abnormalities (Q00-Q99) semapv:UnspecifiedMatching MONDO:0021147 disorder of development or morphogenesis skos:exactMatch MEDGEN:1843482 semapv:UnspecifiedMatching MONDO:0021147 disorder of development or morphogenesis skos:exactMatch UMLS:C0694457 semapv:UnspecifiedMatching MONDO:0021148 female reproductive system neoplasm skos:exactMatch MEDGEN:9004 semapv:UnspecifiedMatching MONDO:0021148 female reproductive system neoplasm skos:exactMatch NCIT:C3053 Female Reproductive System Neoplasm semapv:UnspecifiedMatching MONDO:0021148 female reproductive system neoplasm skos:exactMatch UMLS:C0017416 semapv:UnspecifiedMatching MONDO:0021148 female reproductive system neoplasm skos:exactMatch mesh:D005833 semapv:UnspecifiedMatching MONDO:0021154 dermis disorder skos:exactMatch MEDGEN:1843083 semapv:UnspecifiedMatching MONDO:0021154 dermis disorder skos:exactMatch Orphanet:79381 Other dermis disorder semapv:UnspecifiedMatching MONDO:0021154 dermis disorder skos:exactMatch UMLS:C5681483 semapv:UnspecifiedMatching MONDO:0021156 hypophysitis skos:exactMatch MEDGEN:575012 semapv:UnspecifiedMatching MONDO:0021156 hypophysitis skos:exactMatch NCIT:C12399 Pituitary Gland semapv:UnspecifiedMatching MONDO:0021156 hypophysitis skos:exactMatch SCTID:237705001 semapv:UnspecifiedMatching MONDO:0021156 hypophysitis skos:exactMatch UMLS:C0342409 semapv:UnspecifiedMatching MONDO:0021156 hypophysitis skos:exactMatch icd11.foundation:1589682285 Hypophysitis semapv:UnspecifiedMatching MONDO:0021156 hypophysitis skos:exactMatch mesh:D000072659 semapv:UnspecifiedMatching MONDO:0021157 gonococcal cervicitis skos:exactMatch MEDGEN:678343 semapv:UnspecifiedMatching MONDO:0021157 gonococcal cervicitis skos:exactMatch SCTID:237083000 semapv:UnspecifiedMatching MONDO:0021157 gonococcal cervicitis skos:exactMatch UMLS:C0812378 semapv:UnspecifiedMatching MONDO:0021157 gonococcal cervicitis skos:exactMatch icd11.foundation:1706835456 Gonococcal cervicitis semapv:UnspecifiedMatching MONDO:0021158 gonococcal epididymo-orchitis skos:exactMatch MEDGEN:574637 semapv:UnspecifiedMatching MONDO:0021158 gonococcal epididymo-orchitis skos:exactMatch SCTID:236772009 semapv:UnspecifiedMatching MONDO:0021158 gonococcal epididymo-orchitis skos:exactMatch UMLS:C0341782 semapv:UnspecifiedMatching MONDO:0021159 gonococcal salpingitis skos:exactMatch MEDGEN:574651 semapv:UnspecifiedMatching MONDO:0021159 gonococcal salpingitis skos:exactMatch SCTID:237038001 semapv:UnspecifiedMatching MONDO:0021159 gonococcal salpingitis skos:exactMatch UMLS:C0341811 semapv:UnspecifiedMatching MONDO:0021160 gonococcal cystitis skos:exactMatch MEDGEN:633096 semapv:UnspecifiedMatching MONDO:0021160 gonococcal cystitis skos:exactMatch SCTID:197848003 semapv:UnspecifiedMatching MONDO:0021160 gonococcal cystitis skos:exactMatch UMLS:C0473230 semapv:UnspecifiedMatching MONDO:0021160 gonococcal cystitis skos:exactMatch icd11.foundation:638246732 Gonococcal cystitis semapv:UnspecifiedMatching MONDO:0021161 gonococcal prostatitis skos:exactMatch ICD10CM:A54.22 Gonococcal prostatitis semapv:UnspecifiedMatching MONDO:0021161 gonococcal prostatitis skos:exactMatch MEDGEN:574622 semapv:UnspecifiedMatching MONDO:0021161 gonococcal prostatitis skos:exactMatch SCTID:197967000 semapv:UnspecifiedMatching MONDO:0021161 gonococcal prostatitis skos:exactMatch UMLS:C0341755 semapv:UnspecifiedMatching MONDO:0021161 gonococcal prostatitis skos:exactMatch icd11.foundation:1032655599 Gonococcal prostatitis semapv:UnspecifiedMatching MONDO:0021162 carotenemia skos:exactMatch DOID:9969 carotenemia semapv:UnspecifiedMatching MONDO:0021162 carotenemia skos:exactMatch MEDGEN:56338 semapv:UnspecifiedMatching MONDO:0021162 carotenemia skos:exactMatch SCTID:35487009 semapv:UnspecifiedMatching MONDO:0021162 carotenemia skos:exactMatch UMLS:C0154271 semapv:UnspecifiedMatching MONDO:0021163 kidney neoplasm skos:exactMatch EFO:0003865 semapv:UnspecifiedMatching MONDO:0021163 kidney neoplasm skos:exactMatch MEDGEN:5967 semapv:UnspecifiedMatching MONDO:0021163 kidney neoplasm skos:exactMatch NCIT:C3150 Kidney Neoplasm semapv:UnspecifiedMatching MONDO:0021163 kidney neoplasm skos:exactMatch SCTID:126880001 semapv:UnspecifiedMatching MONDO:0021163 kidney neoplasm skos:exactMatch UMLS:C0022665 semapv:UnspecifiedMatching MONDO:0021164 posthitis skos:exactMatch MEDGEN:536423 semapv:UnspecifiedMatching MONDO:0021164 posthitis skos:exactMatch SCTID:44318002 semapv:UnspecifiedMatching MONDO:0021164 posthitis skos:exactMatch UMLS:C0235640 semapv:UnspecifiedMatching MONDO:0021164 posthitis skos:exactMatch icd11.foundation:1119547622 Posthitis semapv:UnspecifiedMatching MONDO:0021165 Paget disease skos:exactMatch MEDGEN:277958 semapv:UnspecifiedMatching MONDO:0021165 Paget disease skos:exactMatch NCIT:C7073 Paget Disease semapv:UnspecifiedMatching MONDO:0021165 Paget disease skos:exactMatch UMLS:C1368019 semapv:UnspecifiedMatching MONDO:0021166 inflammatory disease skos:exactMatch MEDGEN:452939 semapv:UnspecifiedMatching MONDO:0021166 inflammatory disease skos:exactMatch NCIT:C93210 Inflammatory Disorder semapv:UnspecifiedMatching MONDO:0021166 inflammatory disease skos:exactMatch SCTID:128139000 semapv:UnspecifiedMatching MONDO:0021166 inflammatory disease skos:exactMatch UMLS:C1290884 semapv:UnspecifiedMatching MONDO:0021167 myositis disease skos:exactMatch DOID:633 myositis semapv:UnspecifiedMatching MONDO:0021167 myositis disease skos:exactMatch EFO:0000783 semapv:UnspecifiedMatching MONDO:0021167 myositis disease skos:exactMatch MEDGEN:44564 semapv:UnspecifiedMatching MONDO:0021167 myositis disease skos:exactMatch NCIT:C27578 Myositis semapv:UnspecifiedMatching MONDO:0021167 myositis disease skos:exactMatch SCTID:128496001 semapv:UnspecifiedMatching MONDO:0021167 myositis disease skos:exactMatch UMLS:C0027121 semapv:UnspecifiedMatching MONDO:0021167 myositis disease skos:exactMatch mesh:D009220 semapv:UnspecifiedMatching MONDO:0021168 hibernoma skos:exactMatch MEDGEN:61456 semapv:UnspecifiedMatching MONDO:0021168 hibernoma skos:exactMatch NCIT:C3702 Hibernoma semapv:UnspecifiedMatching MONDO:0021168 hibernoma skos:exactMatch SCTID:404064001 semapv:UnspecifiedMatching MONDO:0021168 hibernoma skos:exactMatch UMLS:C0205822 semapv:UnspecifiedMatching MONDO:0021169 epithelioid hemangioma skos:exactMatch DOID:474 histiocytoid hemangioma semapv:UnspecifiedMatching MONDO:0021169 epithelioid hemangioma skos:exactMatch MEDGEN:61449 semapv:UnspecifiedMatching MONDO:0021169 epithelioid hemangioma skos:exactMatch NCIT:C4298 Epithelioid Hemangioma semapv:UnspecifiedMatching MONDO:0021169 epithelioid hemangioma skos:exactMatch Orphanet:675396 Epithelioid hemangioma semapv:UnspecifiedMatching MONDO:0021169 epithelioid hemangioma skos:exactMatch UMLS:C0205788 semapv:UnspecifiedMatching MONDO:0021171 Timothy syndrome, classic type skos:exactMatch SCTID:699256006 semapv:UnspecifiedMatching MONDO:0021172 Timothy syndrome, atypical type skos:broadMatch ICD10CM:I49.8 Other specified cardiac arrhythmias semapv:UnspecifiedMatching MONDO:0021172 Timothy syndrome, atypical type skos:exactMatch MEDGEN:1805271 semapv:UnspecifiedMatching MONDO:0021172 Timothy syndrome, atypical type skos:exactMatch Orphanet:595109 Atypical Timothy syndrome semapv:UnspecifiedMatching MONDO:0021172 Timothy syndrome, atypical type skos:exactMatch SCTID:719907006 semapv:UnspecifiedMatching MONDO:0021172 Timothy syndrome, atypical type skos:exactMatch UMLS:C5575746 semapv:UnspecifiedMatching MONDO:0021175 herpetic vulvovaginitis skos:exactMatch MEDGEN:42440 semapv:UnspecifiedMatching MONDO:0021175 herpetic vulvovaginitis skos:exactMatch NCIT:C34697 Herpetic Vulvovaginitis semapv:UnspecifiedMatching MONDO:0021175 herpetic vulvovaginitis skos:exactMatch SCTID:27420004 semapv:UnspecifiedMatching MONDO:0021175 herpetic vulvovaginitis skos:exactMatch UMLS:C0019386 semapv:UnspecifiedMatching MONDO:0021176 autoimmune hepatitis type 2 skos:exactMatch MEDGEN:928832 semapv:UnspecifiedMatching MONDO:0021176 autoimmune hepatitis type 2 skos:exactMatch Orphanet:563581 Autoimmune hepatitis type 2 semapv:UnspecifiedMatching MONDO:0021176 autoimmune hepatitis type 2 skos:exactMatch SCTID:721712002 semapv:UnspecifiedMatching MONDO:0021176 autoimmune hepatitis type 2 skos:exactMatch UMLS:C4303163 semapv:UnspecifiedMatching MONDO:0021176 autoimmune hepatitis type 2 skos:exactMatch icd11.foundation:61111843 Autoimmune hepatitis type 2 semapv:UnspecifiedMatching MONDO:0021177 autoimmune hepatitis type 3 skos:exactMatch MEDGEN:928831 semapv:UnspecifiedMatching MONDO:0021177 autoimmune hepatitis type 3 skos:exactMatch SCTID:721713007 semapv:UnspecifiedMatching MONDO:0021177 autoimmune hepatitis type 3 skos:exactMatch UMLS:C4303162 semapv:UnspecifiedMatching MONDO:0021177 autoimmune hepatitis type 3 skos:exactMatch icd11.foundation:607786920 Autoimmune hepatitis type 3 semapv:UnspecifiedMatching MONDO:0021178 injury skos:exactMatch EFO:0000546 semapv:UnspecifiedMatching MONDO:0021178 injury skos:exactMatch NCIT:C3671 Injury semapv:UnspecifiedMatching MONDO:0021178 injury skos:exactMatch mesh:D014947 semapv:UnspecifiedMatching MONDO:0021179 proteostasis deficiencies skos:exactMatch MEDGEN:403490 semapv:UnspecifiedMatching MONDO:0021179 proteostasis deficiencies skos:exactMatch UMLS:C2718000 semapv:UnspecifiedMatching MONDO:0021179 proteostasis deficiencies skos:exactMatch mesh:D057165 semapv:UnspecifiedMatching MONDO:0021181 inherited blood coagulation disorder skos:exactMatch MEDGEN:163105 semapv:UnspecifiedMatching MONDO:0021181 inherited blood coagulation disorder skos:exactMatch Orphanet:183654 Rare genetic coagulation disorder semapv:UnspecifiedMatching MONDO:0021181 inherited blood coagulation disorder skos:exactMatch UMLS:C0852077 semapv:UnspecifiedMatching MONDO:0021181 inherited blood coagulation disorder skos:exactMatch mesh:D025861 semapv:UnspecifiedMatching MONDO:0021183 HTLV-2 infection skos:exactMatch EFO:1001349 semapv:UnspecifiedMatching MONDO:0021183 HTLV-2 infection skos:exactMatch MEDGEN:42515 semapv:UnspecifiedMatching MONDO:0021183 HTLV-2 infection skos:exactMatch SCTID:425740005 semapv:UnspecifiedMatching MONDO:0021183 HTLV-2 infection skos:exactMatch UMLS:C0020102 semapv:UnspecifiedMatching MONDO:0021183 HTLV-2 infection skos:exactMatch mesh:D015491 semapv:UnspecifiedMatching MONDO:0021184 deltaretrovirus infections skos:exactMatch EFO:1001303 semapv:UnspecifiedMatching MONDO:0021184 deltaretrovirus infections skos:exactMatch MEDGEN:9320 semapv:UnspecifiedMatching MONDO:0021184 deltaretrovirus infections skos:exactMatch UMLS:C0020091 semapv:UnspecifiedMatching MONDO:0021184 deltaretrovirus infections skos:exactMatch mesh:D006800 semapv:UnspecifiedMatching MONDO:0021187 hyperlipidemia skos:exactMatch ICD10CM:E78.5 Hyperlipidemia, unspecified semapv:UnspecifiedMatching MONDO:0021187 hyperlipidemia skos:exactMatch MEDGEN:5692 semapv:UnspecifiedMatching MONDO:0021187 hyperlipidemia skos:exactMatch SCTID:55822004 semapv:UnspecifiedMatching MONDO:0021187 hyperlipidemia skos:exactMatch UMLS:C0020473 semapv:UnspecifiedMatching MONDO:0021187 hyperlipidemia skos:exactMatch mesh:D006949 semapv:UnspecifiedMatching MONDO:0021189 intestinal motility disease skos:exactMatch MEDGEN:586448 semapv:UnspecifiedMatching MONDO:0021189 intestinal motility disease skos:exactMatch UMLS:C0400865 semapv:UnspecifiedMatching MONDO:0021190 DNA repair disease skos:exactMatch EFO:0008499 semapv:UnspecifiedMatching MONDO:0021190 DNA repair disease skos:exactMatch MEDGEN:82774 semapv:UnspecifiedMatching MONDO:0021190 DNA repair disease skos:exactMatch NCIT:C7757 DNA Repair Disorder semapv:UnspecifiedMatching MONDO:0021190 DNA repair disease skos:exactMatch UMLS:C0268134 semapv:UnspecifiedMatching MONDO:0021190 DNA repair disease skos:exactMatch mesh:D049914 semapv:UnspecifiedMatching MONDO:0021192 odontogenic neoplasm skos:exactMatch MEDGEN:10426 semapv:UnspecifiedMatching MONDO:0021192 odontogenic neoplasm skos:exactMatch NCIT:C3286 Odontogenic Neoplasm semapv:UnspecifiedMatching MONDO:0021192 odontogenic neoplasm skos:exactMatch UMLS:C0028880 semapv:UnspecifiedMatching MONDO:0021192 odontogenic neoplasm skos:exactMatch mesh:D009808 semapv:UnspecifiedMatching MONDO:0021193 neuroepithelial neoplasm skos:exactMatch MEDGEN:60215 semapv:UnspecifiedMatching MONDO:0021193 neuroepithelial neoplasm skos:exactMatch NCIT:C3787 Neuroepithelial Neoplasm semapv:UnspecifiedMatching MONDO:0021193 neuroepithelial neoplasm skos:exactMatch UMLS:C0206715 semapv:UnspecifiedMatching MONDO:0021193 neuroepithelial neoplasm skos:exactMatch mesh:D018302 semapv:UnspecifiedMatching MONDO:0021198 obsolete rare genetic disease skos:exactMatch Orphanet:98053 Rare genetic disease semapv:UnspecifiedMatching MONDO:0021199 obsolete disease by anatomical system skos:exactMatch DOID:7 disease of anatomical entity semapv:UnspecifiedMatching MONDO:0021199 obsolete disease by anatomical system skos:exactMatch SCTID:362965005 semapv:UnspecifiedMatching MONDO:0021200 obsolete rare disease skos:exactMatch NCIT:C4873 Rare Disorder semapv:UnspecifiedMatching MONDO:0021200 obsolete rare disease skos:exactMatch mesh:D035583 semapv:UnspecifiedMatching MONDO:0021201 skin infection skos:exactMatch MEDGEN:52365 semapv:UnspecifiedMatching MONDO:0021201 skin infection skos:exactMatch NCIT:C35025 Skin Infection semapv:UnspecifiedMatching MONDO:0021201 skin infection skos:exactMatch SCTID:19824006 semapv:UnspecifiedMatching MONDO:0021201 skin infection skos:exactMatch UMLS:C0037278 semapv:UnspecifiedMatching MONDO:0021202 allergic otitis media skos:exactMatch MEDGEN:543352 semapv:UnspecifiedMatching MONDO:0021202 allergic otitis media skos:exactMatch SCTID:26169004 semapv:UnspecifiedMatching MONDO:0021202 allergic otitis media skos:exactMatch UMLS:C0271447 semapv:UnspecifiedMatching MONDO:0021203 serous otitis media skos:exactMatch MEDGEN:75752 semapv:UnspecifiedMatching MONDO:0021203 serous otitis media skos:exactMatch SCTID:80327007 semapv:UnspecifiedMatching MONDO:0021203 serous otitis media skos:exactMatch UMLS:C0271453 semapv:UnspecifiedMatching MONDO:0021204 chronic otitis media skos:exactMatch MEDGEN:75751 semapv:UnspecifiedMatching MONDO:0021204 chronic otitis media skos:exactMatch SCTID:21186006 semapv:UnspecifiedMatching MONDO:0021204 chronic otitis media skos:exactMatch UMLS:C0271441 semapv:UnspecifiedMatching MONDO:0021204 chronic otitis media skos:exactMatch icd11.foundation:38010200 Chronic otitis media semapv:UnspecifiedMatching MONDO:0021205 disorder of ear skos:exactMatch MEDGEN:3946 semapv:UnspecifiedMatching MONDO:0021205 disorder of ear skos:exactMatch NCIT:C26757 Ear Disorder semapv:UnspecifiedMatching MONDO:0021205 disorder of ear skos:exactMatch SCTID:25906001 semapv:UnspecifiedMatching MONDO:0021205 disorder of ear skos:exactMatch UMLS:C0013447 semapv:UnspecifiedMatching MONDO:0021206 chronic non-suppurative otitis media skos:exactMatch MEDGEN:583104 semapv:UnspecifiedMatching MONDO:0021206 chronic non-suppurative otitis media skos:exactMatch SCTID:232254004 semapv:UnspecifiedMatching MONDO:0021206 chronic non-suppurative otitis media skos:exactMatch UMLS:C0395869 semapv:UnspecifiedMatching MONDO:0021207 Crohn jejunitis skos:exactMatch MEDGEN:540631 semapv:UnspecifiedMatching MONDO:0021207 Crohn jejunitis skos:exactMatch SCTID:91390005 semapv:UnspecifiedMatching MONDO:0021207 Crohn jejunitis skos:exactMatch UMLS:C0267379 semapv:UnspecifiedMatching MONDO:0021208 endocrine alopecia skos:exactMatch MEDGEN:507423 semapv:UnspecifiedMatching MONDO:0021208 endocrine alopecia skos:exactMatch SCTID:54539003 semapv:UnspecifiedMatching MONDO:0021208 endocrine alopecia skos:exactMatch UMLS:C0002176 semapv:UnspecifiedMatching MONDO:0021209 heart neoplasm skos:exactMatch EFO:1001339 semapv:UnspecifiedMatching MONDO:0021209 heart neoplasm skos:exactMatch MEDGEN:9172 semapv:UnspecifiedMatching MONDO:0021209 heart neoplasm skos:exactMatch NCIT:C3081 Heart Neoplasm semapv:UnspecifiedMatching MONDO:0021209 heart neoplasm skos:exactMatch UMLS:C0018809 semapv:UnspecifiedMatching MONDO:0021210 trachea neoplasm skos:exactMatch EFO:1001437 semapv:UnspecifiedMatching MONDO:0021210 trachea neoplasm skos:exactMatch MEDGEN:21602 semapv:UnspecifiedMatching MONDO:0021210 trachea neoplasm skos:exactMatch NCIT:C3419 Tracheal Neoplasm semapv:UnspecifiedMatching MONDO:0021210 trachea neoplasm skos:exactMatch UMLS:C0040582 semapv:UnspecifiedMatching MONDO:0021210 trachea neoplasm skos:exactMatch mesh:D014134 semapv:UnspecifiedMatching MONDO:0021211 brain neoplasm skos:exactMatch EFO:0003833 semapv:UnspecifiedMatching MONDO:0021211 brain neoplasm skos:exactMatch MEDGEN:14216 semapv:UnspecifiedMatching MONDO:0021211 brain neoplasm skos:exactMatch NCIT:C2907 Brain Neoplasm semapv:UnspecifiedMatching MONDO:0021211 brain neoplasm skos:exactMatch UMLS:C0006118 semapv:UnspecifiedMatching MONDO:0021218 placenta neoplasm skos:exactMatch MEDGEN:105551 semapv:UnspecifiedMatching MONDO:0021218 placenta neoplasm skos:exactMatch NCIT:C4858 Placental Neoplasm semapv:UnspecifiedMatching MONDO:0021218 placenta neoplasm skos:exactMatch UMLS:C0524541 semapv:UnspecifiedMatching MONDO:0021220 eye neoplasm skos:exactMatch EFO:0003824 semapv:UnspecifiedMatching MONDO:0021220 eye neoplasm skos:exactMatch MEDGEN:5095 semapv:UnspecifiedMatching MONDO:0021220 eye neoplasm skos:exactMatch NCIT:C3030 Eye Neoplasm semapv:UnspecifiedMatching MONDO:0021220 eye neoplasm skos:exactMatch UMLS:C0015414 semapv:UnspecifiedMatching MONDO:0021221 vestibulocochlear nerve neoplasm skos:exactMatch MEDGEN:91099 semapv:UnspecifiedMatching MONDO:0021221 vestibulocochlear nerve neoplasm skos:exactMatch NCIT:C5120 Vestibulocochlear Nerve Neoplasm semapv:UnspecifiedMatching MONDO:0021221 vestibulocochlear nerve neoplasm skos:exactMatch SCTID:387891008 semapv:UnspecifiedMatching MONDO:0021221 vestibulocochlear nerve neoplasm skos:exactMatch UMLS:C0346330 semapv:UnspecifiedMatching MONDO:0021222 lacrimal gland neoplasm skos:exactMatch MEDGEN:83280 semapv:UnspecifiedMatching MONDO:0021222 lacrimal gland neoplasm skos:exactMatch NCIT:C4360 Lacrimal Gland Neoplasm semapv:UnspecifiedMatching MONDO:0021222 lacrimal gland neoplasm skos:exactMatch UMLS:C0339124 semapv:UnspecifiedMatching MONDO:0021223 digestive system neoplasm skos:exactMatch EFO:0008549 semapv:UnspecifiedMatching MONDO:0021223 digestive system neoplasm skos:exactMatch MEDGEN:8398 semapv:UnspecifiedMatching MONDO:0021223 digestive system neoplasm skos:exactMatch NCIT:C3052 Digestive System Neoplasm semapv:UnspecifiedMatching MONDO:0021223 digestive system neoplasm skos:exactMatch UMLS:C0012243 semapv:UnspecifiedMatching MONDO:0021223 digestive system neoplasm skos:exactMatch mesh:D005770 semapv:UnspecifiedMatching MONDO:0021224 iris neoplasm skos:exactMatch MEDGEN:7159 semapv:UnspecifiedMatching MONDO:0021224 iris neoplasm skos:exactMatch NCIT:C3142 Iris Neoplasm semapv:UnspecifiedMatching MONDO:0021224 iris neoplasm skos:exactMatch UMLS:C0022079 semapv:UnspecifiedMatching MONDO:0021224 iris neoplasm skos:exactMatch mesh:D015811 semapv:UnspecifiedMatching MONDO:0021225 uvea neoplasm skos:exactMatch MEDGEN:52960 semapv:UnspecifiedMatching MONDO:0021225 uvea neoplasm skos:exactMatch NCIT:C3436 Uveal Neoplasm semapv:UnspecifiedMatching MONDO:0021225 uvea neoplasm skos:exactMatch UMLS:C0042162 semapv:UnspecifiedMatching MONDO:0021227 adrenal gland neoplasm skos:exactMatch EFO:0003850 semapv:UnspecifiedMatching MONDO:0021227 adrenal gland neoplasm skos:exactMatch MEDGEN:1352 semapv:UnspecifiedMatching MONDO:0021227 adrenal gland neoplasm skos:exactMatch NCIT:C2859 Adrenal Gland Neoplasm semapv:UnspecifiedMatching MONDO:0021227 adrenal gland neoplasm skos:exactMatch Orphanet:100091 Adrenal/paraganglial tumor semapv:UnspecifiedMatching MONDO:0021227 adrenal gland neoplasm skos:exactMatch UMLS:C0001624 semapv:UnspecifiedMatching MONDO:0021228 brainstem neoplasm skos:exactMatch EFO:1001767 semapv:UnspecifiedMatching MONDO:0021228 brainstem neoplasm skos:exactMatch MEDGEN:146207 semapv:UnspecifiedMatching MONDO:0021228 brainstem neoplasm skos:exactMatch NCIT:C4869 Brain Stem Neoplasm semapv:UnspecifiedMatching MONDO:0021228 brainstem neoplasm skos:exactMatch UMLS:C0677866 semapv:UnspecifiedMatching MONDO:0021229 ciliary body neoplasm skos:exactMatch MEDGEN:137916 semapv:UnspecifiedMatching MONDO:0021229 ciliary body neoplasm skos:exactMatch NCIT:C4364 Ciliary Body Neoplasm semapv:UnspecifiedMatching MONDO:0021229 ciliary body neoplasm skos:exactMatch UMLS:C0339349 semapv:UnspecifiedMatching MONDO:0021230 uterine cervix neoplasm skos:exactMatch MEDGEN:40201 semapv:UnspecifiedMatching MONDO:0021230 uterine cervix neoplasm skos:exactMatch NCIT:C2940 Cervical Neoplasm semapv:UnspecifiedMatching MONDO:0021230 uterine cervix neoplasm skos:exactMatch UMLS:C0007873 semapv:UnspecifiedMatching MONDO:0021231 retina neoplasm skos:exactMatch EFO:1000509 semapv:UnspecifiedMatching MONDO:0021231 retina neoplasm skos:exactMatch MEDGEN:101180 semapv:UnspecifiedMatching MONDO:0021231 retina neoplasm skos:exactMatch NCIT:C4800 Retinal Neoplasm semapv:UnspecifiedMatching MONDO:0021231 retina neoplasm skos:exactMatch UMLS:C0524801 semapv:UnspecifiedMatching MONDO:0021232 pineal body neoplasm skos:exactMatch MEDGEN:237252 semapv:UnspecifiedMatching MONDO:0021232 pineal body neoplasm skos:exactMatch NCIT:C3328 Pineal Region Neoplasm semapv:UnspecifiedMatching MONDO:0021232 pineal body neoplasm skos:exactMatch UMLS:C1412004 semapv:UnspecifiedMatching MONDO:0021233 ear neoplasm skos:exactMatch MEDGEN:4431 semapv:UnspecifiedMatching MONDO:0021233 ear neoplasm skos:exactMatch NCIT:C3000 Ear Neoplasm semapv:UnspecifiedMatching MONDO:0021233 ear neoplasm skos:exactMatch UMLS:C0013449 semapv:UnspecifiedMatching MONDO:0021234 spinal cord neoplasm skos:exactMatch EFO:0003828 semapv:UnspecifiedMatching MONDO:0021234 spinal cord neoplasm skos:exactMatch MEDGEN:11551 semapv:UnspecifiedMatching MONDO:0021234 spinal cord neoplasm skos:exactMatch NCIT:C3381 Spinal Cord Neoplasm semapv:UnspecifiedMatching MONDO:0021234 spinal cord neoplasm skos:exactMatch UMLS:C0037930 semapv:UnspecifiedMatching MONDO:0021234 spinal cord neoplasm skos:exactMatch mesh:D013120 semapv:UnspecifiedMatching MONDO:0021235 external ear neoplasm skos:exactMatch MEDGEN:87606 semapv:UnspecifiedMatching MONDO:0021235 external ear neoplasm skos:exactMatch NCIT:C4652 External Ear Neoplasm semapv:UnspecifiedMatching MONDO:0021235 external ear neoplasm skos:exactMatch SCTID:277155005 semapv:UnspecifiedMatching MONDO:0021235 external ear neoplasm skos:exactMatch UMLS:C0349575 semapv:UnspecifiedMatching MONDO:0021237 adrenal medulla neoplasm skos:exactMatch MEDGEN:108572 semapv:UnspecifiedMatching MONDO:0021237 adrenal medulla neoplasm skos:exactMatch NCIT:C4856 Adrenal Medulla Neoplasm semapv:UnspecifiedMatching MONDO:0021237 adrenal medulla neoplasm skos:exactMatch UMLS:C0596046 semapv:UnspecifiedMatching MONDO:0021238 cornea neoplasm skos:exactMatch MEDGEN:90940 semapv:UnspecifiedMatching MONDO:0021238 cornea neoplasm skos:exactMatch NCIT:C4361 Corneal Neoplasm semapv:UnspecifiedMatching MONDO:0021238 cornea neoplasm skos:exactMatch UMLS:C0339304 semapv:UnspecifiedMatching MONDO:0021239 urethra neoplasm skos:exactMatch EFO:0003846 semapv:UnspecifiedMatching MONDO:0021239 urethra neoplasm skos:exactMatch MEDGEN:12014 semapv:UnspecifiedMatching MONDO:0021239 urethra neoplasm skos:exactMatch NCIT:C3428 Urethra Neoplasm semapv:UnspecifiedMatching MONDO:0021239 urethra neoplasm skos:exactMatch UMLS:C0041971 semapv:UnspecifiedMatching MONDO:0021240 tongue neoplasm skos:exactMatch EFO:0003871 semapv:UnspecifiedMatching MONDO:0021240 tongue neoplasm skos:exactMatch MEDGEN:52778 semapv:UnspecifiedMatching MONDO:0021240 tongue neoplasm skos:exactMatch NCIT:C3416 Tongue Neoplasm semapv:UnspecifiedMatching MONDO:0021240 tongue neoplasm skos:exactMatch SCTID:126778001 semapv:UnspecifiedMatching MONDO:0021240 tongue neoplasm skos:exactMatch UMLS:C0040411 semapv:UnspecifiedMatching MONDO:0021241 buccal mucosa neoplasm skos:exactMatch MEDGEN:138021 semapv:UnspecifiedMatching MONDO:0021241 buccal mucosa neoplasm skos:exactMatch NCIT:C4405 Buccal Mucosa Neoplasm semapv:UnspecifiedMatching MONDO:0021241 buccal mucosa neoplasm skos:exactMatch SCTID:126802007 semapv:UnspecifiedMatching MONDO:0021241 buccal mucosa neoplasm skos:exactMatch UMLS:C0345563 semapv:UnspecifiedMatching MONDO:0021242 sublingual gland neoplasm skos:exactMatch MEDGEN:21371 semapv:UnspecifiedMatching MONDO:0021242 sublingual gland neoplasm skos:exactMatch NCIT:C3392 Sublingual Gland Neoplasm semapv:UnspecifiedMatching MONDO:0021242 sublingual gland neoplasm skos:exactMatch SCTID:126790004 semapv:UnspecifiedMatching MONDO:0021242 sublingual gland neoplasm skos:exactMatch UMLS:C0038554 semapv:UnspecifiedMatching MONDO:0021242 sublingual gland neoplasm skos:exactMatch mesh:D013362 semapv:UnspecifiedMatching MONDO:0021243 parotid gland neoplasm skos:exactMatch EFO:0003873 semapv:UnspecifiedMatching MONDO:0021243 parotid gland neoplasm skos:exactMatch MEDGEN:18313 semapv:UnspecifiedMatching MONDO:0021243 parotid gland neoplasm skos:exactMatch NCIT:C3314 Parotid Gland Neoplasm semapv:UnspecifiedMatching MONDO:0021243 parotid gland neoplasm skos:exactMatch SCTID:126788000 semapv:UnspecifiedMatching MONDO:0021243 parotid gland neoplasm skos:exactMatch UMLS:C0030581 semapv:UnspecifiedMatching MONDO:0021244 submandibular gland neoplasm skos:exactMatch EFO:1001853 semapv:UnspecifiedMatching MONDO:0021244 submandibular gland neoplasm skos:exactMatch MEDGEN:20986 semapv:UnspecifiedMatching MONDO:0021244 submandibular gland neoplasm skos:exactMatch NCIT:C3393 Submandibular Gland Neoplasm semapv:UnspecifiedMatching MONDO:0021244 submandibular gland neoplasm skos:exactMatch SCTID:254464000 semapv:UnspecifiedMatching MONDO:0021244 submandibular gland neoplasm skos:exactMatch UMLS:C0038558 semapv:UnspecifiedMatching MONDO:0021244 submandibular gland neoplasm skos:exactMatch mesh:D013365 semapv:UnspecifiedMatching MONDO:0021245 oral cavity neoplasm skos:exactMatch EFO:0003868 semapv:UnspecifiedMatching MONDO:0021245 oral cavity neoplasm skos:exactMatch MEDGEN:7722 semapv:UnspecifiedMatching MONDO:0021245 oral cavity neoplasm skos:exactMatch NCIT:C7606 Oral Cavity Neoplasm semapv:UnspecifiedMatching MONDO:0021245 oral cavity neoplasm skos:exactMatch SCTID:235075007 semapv:UnspecifiedMatching MONDO:0021245 oral cavity neoplasm skos:exactMatch UMLS:C0026640 semapv:UnspecifiedMatching MONDO:0021246 pharynx neoplasm skos:exactMatch MEDGEN:45844 semapv:UnspecifiedMatching MONDO:0021246 pharynx neoplasm skos:exactMatch NCIT:C3325 Pharyngeal Neoplasm semapv:UnspecifiedMatching MONDO:0021246 pharynx neoplasm skos:exactMatch UMLS:C0031347 semapv:UnspecifiedMatching MONDO:0021248 nervous system neoplasm skos:exactMatch MEDGEN:45046 semapv:UnspecifiedMatching MONDO:0021248 nervous system neoplasm skos:exactMatch NCIT:C3268 Nervous System Neoplasm semapv:UnspecifiedMatching MONDO:0021248 nervous system neoplasm skos:exactMatch UMLS:C0027766 semapv:UnspecifiedMatching MONDO:0021249 lip neoplasm skos:exactMatch MEDGEN:9777 semapv:UnspecifiedMatching MONDO:0021249 lip neoplasm skos:exactMatch NCIT:C3191 Lip Neoplasm semapv:UnspecifiedMatching MONDO:0021249 lip neoplasm skos:exactMatch SCTID:126770008 semapv:UnspecifiedMatching MONDO:0021249 lip neoplasm skos:exactMatch UMLS:C0023761 semapv:UnspecifiedMatching MONDO:0021250 tonsil neoplasm skos:exactMatch MEDGEN:21201 semapv:UnspecifiedMatching MONDO:0021250 tonsil neoplasm skos:exactMatch NCIT:C3417 Tonsillar Neoplasm semapv:UnspecifiedMatching MONDO:0021250 tonsil neoplasm skos:exactMatch SCTID:127227003 semapv:UnspecifiedMatching MONDO:0021250 tonsil neoplasm skos:exactMatch UMLS:C0040422 semapv:UnspecifiedMatching MONDO:0021251 endometrium neoplasm skos:exactMatch MEDGEN:8619 semapv:UnspecifiedMatching MONDO:0021251 endometrium neoplasm skos:exactMatch NCIT:C3012 Endometrial Neoplasm semapv:UnspecifiedMatching MONDO:0021251 endometrium neoplasm skos:exactMatch SCTID:123844007 semapv:UnspecifiedMatching MONDO:0021251 endometrium neoplasm skos:exactMatch UMLS:C0014170 semapv:UnspecifiedMatching MONDO:0021251 endometrium neoplasm skos:exactMatch mesh:D016889 semapv:UnspecifiedMatching MONDO:0021253 gallbladder neoplasm skos:exactMatch EFO:0004606 semapv:UnspecifiedMatching MONDO:0021253 gallbladder neoplasm skos:exactMatch MEDGEN:42134 semapv:UnspecifiedMatching MONDO:0021253 gallbladder neoplasm skos:exactMatch NCIT:C3048 Gallbladder Neoplasm semapv:UnspecifiedMatching MONDO:0021253 gallbladder neoplasm skos:exactMatch UMLS:C0016978 semapv:UnspecifiedMatching MONDO:0021253 gallbladder neoplasm skos:exactMatch mesh:D005706 semapv:UnspecifiedMatching MONDO:0021254 corpus uteri neoplasm skos:exactMatch MEDGEN:226810 semapv:UnspecifiedMatching MONDO:0021254 corpus uteri neoplasm skos:exactMatch NCIT:C6300 Uterine Corpus Neoplasm semapv:UnspecifiedMatching MONDO:0021254 corpus uteri neoplasm skos:exactMatch SCTID:126909004 semapv:UnspecifiedMatching MONDO:0021254 corpus uteri neoplasm skos:exactMatch UMLS:C1263777 semapv:UnspecifiedMatching MONDO:0021258 choroid neoplasm skos:exactMatch MEDGEN:3059 semapv:UnspecifiedMatching MONDO:0021258 choroid neoplasm skos:exactMatch NCIT:C2949 Choroid Neoplasm semapv:UnspecifiedMatching MONDO:0021258 choroid neoplasm skos:exactMatch UMLS:C0008523 semapv:UnspecifiedMatching MONDO:0021259 prostate neoplasm skos:exactMatch DOID:13206 nodular prostate semapv:UnspecifiedMatching MONDO:0021259 prostate neoplasm skos:exactMatch MEDGEN:18697 semapv:UnspecifiedMatching MONDO:0021259 prostate neoplasm skos:exactMatch NCIT:C3343 Prostate Neoplasm semapv:UnspecifiedMatching MONDO:0021259 prostate neoplasm skos:exactMatch UMLS:C0033578 semapv:UnspecifiedMatching MONDO:0021271 villous adenoma of colon skos:exactMatch MEDGEN:56207 semapv:UnspecifiedMatching MONDO:0021271 villous adenoma of colon skos:exactMatch NCIT:C3495 Colon Villous Adenoma semapv:UnspecifiedMatching MONDO:0021271 villous adenoma of colon skos:exactMatch SCTID:309084001 semapv:UnspecifiedMatching MONDO:0021271 villous adenoma of colon skos:exactMatch UMLS:C0149862 semapv:UnspecifiedMatching MONDO:0021272 inherited orthostatic hypotension skos:exactMatch MEDGEN:1842591 semapv:UnspecifiedMatching MONDO:0021272 inherited orthostatic hypotension skos:exactMatch OMIMPS:223360 Orthostatic hypotension semapv:UnspecifiedMatching MONDO:0021272 inherited orthostatic hypotension skos:exactMatch Orphanet:448426 Genetic primary orthostatic hypotension semapv:UnspecifiedMatching MONDO:0021272 inherited orthostatic hypotension skos:exactMatch UMLS:C5681106 semapv:UnspecifiedMatching MONDO:0021273 leiomyoma of ciliary body skos:exactMatch MEDGEN:138063 semapv:UnspecifiedMatching MONDO:0021273 leiomyoma of ciliary body skos:exactMatch NCIT:C4560 Ciliary Body Leiomyoma semapv:UnspecifiedMatching MONDO:0021273 leiomyoma of ciliary body skos:exactMatch SCTID:255020006 semapv:UnspecifiedMatching MONDO:0021273 leiomyoma of ciliary body skos:exactMatch UMLS:C0346386 semapv:UnspecifiedMatching MONDO:0021273 leiomyoma of ciliary body skos:exactMatch icd11.foundation:99905286 Leiomyoma of ciliary body semapv:UnspecifiedMatching MONDO:0021275 papilloma of eyelid skos:exactMatch MEDGEN:256159 semapv:UnspecifiedMatching MONDO:0021275 papilloma of eyelid skos:exactMatch SCTID:314515006 semapv:UnspecifiedMatching MONDO:0021275 papilloma of eyelid skos:exactMatch UMLS:C1142491 semapv:UnspecifiedMatching MONDO:0021275 papilloma of eyelid skos:exactMatch icd11.foundation:643260480 Papilloma of eyelid semapv:UnspecifiedMatching MONDO:0021276 papilloma of buccal mucosa skos:exactMatch MEDGEN:231971 semapv:UnspecifiedMatching MONDO:0021276 papilloma of buccal mucosa skos:exactMatch NCIT:C5819 Buccal Squamous Papilloma semapv:UnspecifiedMatching MONDO:0021276 papilloma of buccal mucosa skos:exactMatch SCTID:448147005 semapv:UnspecifiedMatching MONDO:0021276 papilloma of buccal mucosa skos:exactMatch UMLS:C1332641 semapv:UnspecifiedMatching MONDO:0021279 mucoepidermoid carcinoma of submandibular gland skos:exactMatch MEDGEN:277774 semapv:UnspecifiedMatching MONDO:0021279 mucoepidermoid carcinoma of submandibular gland skos:exactMatch NCIT:C5939 Submandibular Gland Mucoepidermoid Carcinoma semapv:UnspecifiedMatching MONDO:0021279 mucoepidermoid carcinoma of submandibular gland skos:exactMatch SCTID:423424005 semapv:UnspecifiedMatching MONDO:0021279 mucoepidermoid carcinoma of submandibular gland skos:exactMatch UMLS:C1336524 semapv:UnspecifiedMatching MONDO:0021280 mucoepidermoid carcinoma of parotid gland skos:exactMatch MEDGEN:277506 semapv:UnspecifiedMatching MONDO:0021280 mucoepidermoid carcinoma of parotid gland skos:exactMatch NCIT:C5938 Parotid Gland Mucoepidermoid Carcinoma semapv:UnspecifiedMatching MONDO:0021280 mucoepidermoid carcinoma of parotid gland skos:exactMatch SCTID:423793008 semapv:UnspecifiedMatching MONDO:0021280 mucoepidermoid carcinoma of parotid gland skos:exactMatch UMLS:C1335363 semapv:UnspecifiedMatching MONDO:0021280 mucoepidermoid carcinoma of parotid gland skos:exactMatch icd11.foundation:135568040 Mucoepidermoid carcinoma of parotid gland semapv:UnspecifiedMatching MONDO:0021281 cavernous hemangioma of retina skos:exactMatch MEDGEN:152678 semapv:UnspecifiedMatching MONDO:0021281 cavernous hemangioma of retina skos:exactMatch NCIT:C4921 Retinal Cavernous Hemangioma semapv:UnspecifiedMatching MONDO:0021281 cavernous hemangioma of retina skos:exactMatch SCTID:312937006 semapv:UnspecifiedMatching MONDO:0021281 cavernous hemangioma of retina skos:exactMatch UMLS:C0730304 semapv:UnspecifiedMatching MONDO:0021282 malignant teratoma of testis skos:exactMatch MEDGEN:232636 semapv:UnspecifiedMatching MONDO:0021282 malignant teratoma of testis skos:exactMatch NCIT:C6353 Testicular Immature Teratoma semapv:UnspecifiedMatching MONDO:0021282 malignant teratoma of testis skos:exactMatch SCTID:416769008 semapv:UnspecifiedMatching MONDO:0021282 malignant teratoma of testis skos:exactMatch UMLS:C1334154 semapv:UnspecifiedMatching MONDO:0021282 malignant teratoma of testis skos:exactMatch icd11.foundation:1214355345 Malignant teratoma of testis semapv:UnspecifiedMatching MONDO:0021283 malignant teratoma of mediastinum skos:exactMatch MEDGEN:91164 semapv:UnspecifiedMatching MONDO:0021283 malignant teratoma of mediastinum skos:exactMatch NCIT:C4668 Mediastinal Immature Teratoma semapv:UnspecifiedMatching MONDO:0021283 malignant teratoma of mediastinum skos:exactMatch SCTID:278042005 semapv:UnspecifiedMatching MONDO:0021283 malignant teratoma of mediastinum skos:exactMatch UMLS:C0349663 semapv:UnspecifiedMatching MONDO:0021284 carcinoma in situ of ureter skos:exactMatch MEDGEN:1660901 semapv:UnspecifiedMatching MONDO:0021284 carcinoma in situ of ureter skos:exactMatch NCIT:C4529 Stage 0is Ureter Cancer AJCC v7 semapv:UnspecifiedMatching MONDO:0021284 carcinoma in situ of ureter skos:exactMatch SCTID:92782006 semapv:UnspecifiedMatching MONDO:0021284 carcinoma in situ of ureter skos:exactMatch UMLS:C4721448 semapv:UnspecifiedMatching MONDO:0021285 carcinoma in situ of urethra skos:exactMatch MEDGEN:1661236 semapv:UnspecifiedMatching MONDO:0021285 carcinoma in situ of urethra skos:exactMatch NCIT:C4531 Stage 0is Urethral Cancer AJCC v7 semapv:UnspecifiedMatching MONDO:0021285 carcinoma in situ of urethra skos:exactMatch SCTID:92784007 semapv:UnspecifiedMatching MONDO:0021285 carcinoma in situ of urethra skos:exactMatch UMLS:C4721449 semapv:UnspecifiedMatching MONDO:0021287 carcinoma in situ of epiglottis skos:exactMatch MEDGEN:87571 semapv:UnspecifiedMatching MONDO:0021287 carcinoma in situ of epiglottis skos:exactMatch NCIT:C4592 Stage 0 Epiglottic Carcinoma AJCC v6, v7, and v8 semapv:UnspecifiedMatching MONDO:0021287 carcinoma in situ of epiglottis skos:exactMatch SCTID:92584005 semapv:UnspecifiedMatching MONDO:0021287 carcinoma in situ of epiglottis skos:exactMatch UMLS:C0347103 semapv:UnspecifiedMatching MONDO:0021287 carcinoma in situ of epiglottis skos:exactMatch icd11.foundation:238950969 Carcinoma in situ of epiglottis semapv:UnspecifiedMatching MONDO:0021288 carcinoma in situ of hypopharynx skos:exactMatch MEDGEN:138078 semapv:UnspecifiedMatching MONDO:0021288 carcinoma in situ of hypopharynx skos:exactMatch NCIT:C9101 Stage 0 Hypopharyngeal Carcinoma AJCC v6, v7, and v8 semapv:UnspecifiedMatching MONDO:0021288 carcinoma in situ of hypopharynx skos:exactMatch SCTID:92612007 semapv:UnspecifiedMatching MONDO:0021288 carcinoma in situ of hypopharynx skos:exactMatch UMLS:C0347100 semapv:UnspecifiedMatching MONDO:0021288 carcinoma in situ of hypopharynx skos:exactMatch icd11.foundation:591890094 Carcinoma in situ of hypopharynx semapv:UnspecifiedMatching MONDO:0021289 carcinoma in situ of cecum skos:exactMatch MEDGEN:83854 semapv:UnspecifiedMatching MONDO:0021289 carcinoma in situ of cecum skos:exactMatch NCIT:C4594 Cecum Carcinoma In Situ semapv:UnspecifiedMatching MONDO:0021289 carcinoma in situ of cecum skos:exactMatch SCTID:92559007 semapv:UnspecifiedMatching MONDO:0021289 carcinoma in situ of cecum skos:exactMatch UMLS:C0347126 semapv:UnspecifiedMatching MONDO:0021290 carcinoma in situ of appendix skos:exactMatch MEDGEN:83853 semapv:UnspecifiedMatching MONDO:0021290 carcinoma in situ of appendix skos:exactMatch NCIT:C4593 Stage 0 Appendix Carcinoma AJCC v7 semapv:UnspecifiedMatching MONDO:0021290 carcinoma in situ of appendix skos:exactMatch SCTID:92539008 semapv:UnspecifiedMatching MONDO:0021290 carcinoma in situ of appendix skos:exactMatch UMLS:C0347125 semapv:UnspecifiedMatching MONDO:0021290 carcinoma in situ of appendix skos:exactMatch icd11.foundation:1098804908 Carcinoma in situ of appendix semapv:UnspecifiedMatching MONDO:0021291 carcinoma in situ of fundus of stomach skos:exactMatch MEDGEN:91053 semapv:UnspecifiedMatching MONDO:0021291 carcinoma in situ of fundus of stomach skos:exactMatch NCIT:C4429 Gastric Fundus Carcinoma In Situ AJCC v6 and v7 semapv:UnspecifiedMatching MONDO:0021291 carcinoma in situ of fundus of stomach skos:exactMatch SCTID:92598002 semapv:UnspecifiedMatching MONDO:0021291 carcinoma in situ of fundus of stomach skos:exactMatch UMLS:C0345800 semapv:UnspecifiedMatching MONDO:0021292 carcinoma in situ of gastric body skos:exactMatch MEDGEN:87516 semapv:UnspecifiedMatching MONDO:0021292 carcinoma in situ of gastric body skos:exactMatch NCIT:C4430 Gastric Body Carcinoma In Situ AJCC v6 and v7 semapv:UnspecifiedMatching MONDO:0021292 carcinoma in situ of gastric body skos:exactMatch SCTID:92549006 semapv:UnspecifiedMatching MONDO:0021292 carcinoma in situ of gastric body skos:exactMatch UMLS:C0345805 semapv:UnspecifiedMatching MONDO:0021294 carcinoma in situ of gastric cardia skos:exactMatch MEDGEN:91052 semapv:UnspecifiedMatching MONDO:0021294 carcinoma in situ of gastric cardia skos:exactMatch NCIT:C4428 Gastric Cardia Carcinoma In Situ AJCC v6 and v7 semapv:UnspecifiedMatching MONDO:0021294 carcinoma in situ of gastric cardia skos:exactMatch SCTID:92560002 semapv:UnspecifiedMatching MONDO:0021294 carcinoma in situ of gastric cardia skos:exactMatch UMLS:C0345795 semapv:UnspecifiedMatching MONDO:0021296 carcinoma in situ of renal pelvis skos:exactMatch MEDGEN:83855 semapv:UnspecifiedMatching MONDO:0021296 carcinoma in situ of renal pelvis skos:exactMatch NCIT:C4597 Stage 0is Renal Pelvis Cancer AJCC v7 semapv:UnspecifiedMatching MONDO:0021296 carcinoma in situ of renal pelvis skos:exactMatch SCTID:92697000 semapv:UnspecifiedMatching MONDO:0021296 carcinoma in situ of renal pelvis skos:exactMatch UMLS:C0347184 semapv:UnspecifiedMatching MONDO:0021297 carcinoma in situ of nasopharynx skos:exactMatch MEDGEN:83850 semapv:UnspecifiedMatching MONDO:0021297 carcinoma in situ of nasopharynx skos:exactMatch NCIT:C9099 Stage 0 Nasopharyngeal Carcinoma AJCC v6, v7, and v8 semapv:UnspecifiedMatching MONDO:0021297 carcinoma in situ of nasopharynx skos:exactMatch SCTID:92664001 semapv:UnspecifiedMatching MONDO:0021297 carcinoma in situ of nasopharynx skos:exactMatch UMLS:C0347096 semapv:UnspecifiedMatching MONDO:0021297 carcinoma in situ of nasopharynx skos:exactMatch icd11.foundation:1626158287 Carcinoma in situ of nasopharynx semapv:UnspecifiedMatching MONDO:0021298 carcinoma in situ of oropharynx skos:exactMatch MEDGEN:83852 semapv:UnspecifiedMatching MONDO:0021298 carcinoma in situ of oropharynx skos:exactMatch NCIT:C4590 Stage 0 Oropharyngeal Carcinoma AJCC v6 and v7 semapv:UnspecifiedMatching MONDO:0021298 carcinoma in situ of oropharynx skos:exactMatch SCTID:92668003 semapv:UnspecifiedMatching MONDO:0021298 carcinoma in situ of oropharynx skos:exactMatch UMLS:C0347099 semapv:UnspecifiedMatching MONDO:0021298 carcinoma in situ of oropharynx skos:exactMatch icd11.foundation:364791852 Carcinoma in situ of oropharynx semapv:UnspecifiedMatching MONDO:0021299 carcinoma in situ of extrahepatic bile duct skos:exactMatch MEDGEN:138028 semapv:UnspecifiedMatching MONDO:0021299 carcinoma in situ of extrahepatic bile duct skos:exactMatch NCIT:C4442 Stage 0 Extrahepatic Bile Duct Cancer semapv:UnspecifiedMatching MONDO:0021299 carcinoma in situ of extrahepatic bile duct skos:exactMatch SCTID:92589000 semapv:UnspecifiedMatching MONDO:0021299 carcinoma in situ of extrahepatic bile duct skos:exactMatch UMLS:C0345914 semapv:UnspecifiedMatching MONDO:0021300 adenoid cystic carcinoma of oropharynx skos:exactMatch MEDGEN:235411 semapv:UnspecifiedMatching MONDO:0021300 adenoid cystic carcinoma of oropharynx skos:exactMatch NCIT:C6241 Oropharyngeal Adenoid Cystic Carcinoma semapv:UnspecifiedMatching MONDO:0021300 adenoid cystic carcinoma of oropharynx skos:exactMatch SCTID:423318000 semapv:UnspecifiedMatching MONDO:0021300 adenoid cystic carcinoma of oropharynx skos:exactMatch UMLS:C1335139 semapv:UnspecifiedMatching MONDO:0021300 adenoid cystic carcinoma of oropharynx skos:exactMatch icd11.foundation:2053023791 Adenoid cystic carcinoma of oropharynx semapv:UnspecifiedMatching MONDO:0021301 adenoma of nipple skos:exactMatch MEDGEN:137752 semapv:UnspecifiedMatching MONDO:0021301 adenoma of nipple skos:exactMatch NCIT:C4192 Nipple Adenoma semapv:UnspecifiedMatching MONDO:0021301 adenoma of nipple skos:exactMatch SCTID:302829009 semapv:UnspecifiedMatching MONDO:0021301 adenoma of nipple skos:exactMatch UMLS:C0334378 semapv:UnspecifiedMatching MONDO:0021303 adenoma of small intestine skos:exactMatch MEDGEN:226995 semapv:UnspecifiedMatching MONDO:0021303 adenoma of small intestine skos:exactMatch NCIT:C5340 Small Intestinal Adenoma semapv:UnspecifiedMatching MONDO:0021303 adenoma of small intestine skos:exactMatch SCTID:399422005 semapv:UnspecifiedMatching MONDO:0021303 adenoma of small intestine skos:exactMatch UMLS:C1302392 semapv:UnspecifiedMatching MONDO:0021309 malignant neoplasm of endocervix skos:exactMatch ICD10CM:C53.0 Malignant neoplasm of endocervix semapv:UnspecifiedMatching MONDO:0021309 malignant neoplasm of endocervix skos:exactMatch MEDGEN:56309 semapv:UnspecifiedMatching MONDO:0021309 malignant neoplasm of endocervix skos:exactMatch NCIT:C3553 Malignant Endocervical Neoplasm semapv:UnspecifiedMatching MONDO:0021309 malignant neoplasm of endocervix skos:exactMatch SCTID:372097009 semapv:UnspecifiedMatching MONDO:0021309 malignant neoplasm of endocervix skos:exactMatch UMLS:C0153569 semapv:UnspecifiedMatching MONDO:0021310 malignant tumor of neck skos:exactMatch MEDGEN:155434 semapv:UnspecifiedMatching MONDO:0021310 malignant tumor of neck skos:exactMatch NCIT:C4940 Malignant Neck Neoplasm semapv:UnspecifiedMatching MONDO:0021310 malignant tumor of neck skos:exactMatch SCTID:363489000 semapv:UnspecifiedMatching MONDO:0021310 malignant tumor of neck skos:exactMatch UMLS:C0746787 semapv:UnspecifiedMatching MONDO:0021311 malignant tumor of parathyroid gland skos:exactMatch ICD10CM:C75.0 Malignant neoplasm of parathyroid gland semapv:UnspecifiedMatching MONDO:0021311 malignant tumor of parathyroid gland skos:exactMatch MEDGEN:102283 semapv:UnspecifiedMatching MONDO:0021311 malignant tumor of parathyroid gland skos:exactMatch NCIT:C9322 Malignant Parathyroid Gland Neoplasm semapv:UnspecifiedMatching MONDO:0021311 malignant tumor of parathyroid gland skos:exactMatch SCTID:363481002 semapv:UnspecifiedMatching MONDO:0021311 malignant tumor of parathyroid gland skos:exactMatch UMLS:C0153653 semapv:UnspecifiedMatching MONDO:0021312 malignant tumor of adrenal cortex skos:exactMatch MEDGEN:83425 semapv:UnspecifiedMatching MONDO:0021312 malignant tumor of adrenal cortex skos:exactMatch NCIT:C9327 Malignant Adrenal Cortical Neoplasm semapv:UnspecifiedMatching MONDO:0021312 malignant tumor of adrenal cortex skos:exactMatch SCTID:371964008 semapv:UnspecifiedMatching MONDO:0021312 malignant tumor of adrenal cortex skos:exactMatch UMLS:C0346402 semapv:UnspecifiedMatching MONDO:0021313 eyelid cancer skos:exactMatch MEDGEN:501131 semapv:UnspecifiedMatching MONDO:0021313 eyelid cancer skos:exactMatch NCIT:C6786 Malignant Eyelid Neoplasm semapv:UnspecifiedMatching MONDO:0021313 eyelid cancer skos:exactMatch SCTID:231829006 semapv:UnspecifiedMatching MONDO:0021313 eyelid cancer skos:exactMatch SCTID:423425006 semapv:UnspecifiedMatching MONDO:0021313 eyelid cancer skos:exactMatch UMLS:C1828015 semapv:UnspecifiedMatching MONDO:0021315 malignant tumor of nasopharynx skos:exactMatch ICD10CM:C11 Malignant neoplasm of nasopharynx semapv:UnspecifiedMatching MONDO:0021315 malignant tumor of nasopharynx skos:exactMatch MEDGEN:56299 semapv:UnspecifiedMatching MONDO:0021315 malignant tumor of nasopharynx skos:exactMatch NCIT:C9321 Malignant Nasopharyngeal Neoplasm semapv:UnspecifiedMatching MONDO:0021315 malignant tumor of nasopharynx skos:exactMatch SCTID:187692001 semapv:UnspecifiedMatching MONDO:0021315 malignant tumor of nasopharynx skos:exactMatch UMLS:C0153392 semapv:UnspecifiedMatching MONDO:0021316 malignant tumor of minor salivary gland skos:exactMatch MEDGEN:91049 semapv:UnspecifiedMatching MONDO:0021316 malignant tumor of minor salivary gland skos:exactMatch NCIT:C4410 Malignant Minor Salivary Gland Neoplasm semapv:UnspecifiedMatching MONDO:0021316 malignant tumor of minor salivary gland skos:exactMatch SCTID:363485006 semapv:UnspecifiedMatching MONDO:0021316 malignant tumor of minor salivary gland skos:exactMatch UMLS:C0345614 semapv:UnspecifiedMatching MONDO:0021317 cancer of cerebellum skos:exactMatch ICD10CM:C71.6 Malignant neoplasm of cerebellum semapv:UnspecifiedMatching MONDO:0021317 cancer of cerebellum skos:exactMatch MEDGEN:57797 semapv:UnspecifiedMatching MONDO:0021317 cancer of cerebellum skos:exactMatch NCIT:C3569 Malignant Cerebellar Neoplasm semapv:UnspecifiedMatching MONDO:0021317 cancer of cerebellum skos:exactMatch SCTID:449420002 semapv:UnspecifiedMatching MONDO:0021317 cancer of cerebellum skos:exactMatch UMLS:C0153640 semapv:UnspecifiedMatching MONDO:0021320 malignant tumor of floor of mouth skos:exactMatch ICD10CM:C04 Malignant neoplasm of floor of mouth semapv:UnspecifiedMatching MONDO:0021320 malignant tumor of floor of mouth skos:exactMatch MEDGEN:102264 semapv:UnspecifiedMatching MONDO:0021320 malignant tumor of floor of mouth skos:exactMatch NCIT:C9318 Malignant Floor of the Mouth Neoplasm semapv:UnspecifiedMatching MONDO:0021320 malignant tumor of floor of mouth skos:exactMatch SCTID:363385007 semapv:UnspecifiedMatching MONDO:0021320 malignant tumor of floor of mouth skos:exactMatch UMLS:C0153368 semapv:UnspecifiedMatching MONDO:0021320 malignant tumor of floor of mouth skos:exactMatch icd11.foundation:359540510 Malignant neoplasms of floor of mouth semapv:UnspecifiedMatching MONDO:0021321 malignant tumor of extrahepatic bile duct skos:exactMatch ICD10CM:C24.0 Malignant neoplasm of extrahepatic bile duct semapv:UnspecifiedMatching MONDO:0021321 malignant tumor of extrahepatic bile duct skos:exactMatch MEDGEN:56304 semapv:UnspecifiedMatching MONDO:0021321 malignant tumor of extrahepatic bile duct skos:exactMatch NCIT:C7483 Malignant Extrahepatic Bile Duct Neoplasm semapv:UnspecifiedMatching MONDO:0021321 malignant tumor of extrahepatic bile duct skos:exactMatch SCTID:363416002 semapv:UnspecifiedMatching MONDO:0021321 malignant tumor of extrahepatic bile duct skos:exactMatch UMLS:C0153453 semapv:UnspecifiedMatching MONDO:0021322 malignant tumor of meninges skos:exactMatch ICD10CM:C70 Malignant neoplasm of meninges semapv:UnspecifiedMatching MONDO:0021322 malignant tumor of meninges skos:exactMatch MEDGEN:87594 semapv:UnspecifiedMatching MONDO:0021322 malignant tumor of meninges skos:exactMatch NCIT:C4628 Malignant Meningeal Neoplasm semapv:UnspecifiedMatching MONDO:0021322 malignant tumor of meninges skos:exactMatch SCTID:363497007 semapv:UnspecifiedMatching MONDO:0021322 malignant tumor of meninges skos:exactMatch UMLS:C0348375 semapv:UnspecifiedMatching MONDO:0021323 malignant neoplasm of chest wall skos:exactMatch MEDGEN:138070 semapv:UnspecifiedMatching MONDO:0021323 malignant neoplasm of chest wall skos:exactMatch NCIT:C4580 Malignant Chest Wall Neoplasm semapv:UnspecifiedMatching MONDO:0021323 malignant neoplasm of chest wall skos:exactMatch SCTID:712750007 semapv:UnspecifiedMatching MONDO:0021323 malignant neoplasm of chest wall skos:exactMatch UMLS:C0346948 semapv:UnspecifiedMatching MONDO:0021324 malignant neoplasm of abdominal esophagus skos:exactMatch MEDGEN:141675 semapv:UnspecifiedMatching MONDO:0021324 malignant neoplasm of abdominal esophagus skos:exactMatch NCIT:C4764 Malignant Neoplasm of the Abdominal Esophagus semapv:UnspecifiedMatching MONDO:0021324 malignant neoplasm of abdominal esophagus skos:exactMatch SCTID:187724003 semapv:UnspecifiedMatching MONDO:0021324 malignant neoplasm of abdominal esophagus skos:exactMatch UMLS:C0496775 semapv:UnspecifiedMatching MONDO:0021325 malignant neoplasm of thoracic esophagus skos:exactMatch MEDGEN:102268 semapv:UnspecifiedMatching MONDO:0021325 malignant neoplasm of thoracic esophagus skos:exactMatch NCIT:C3532 Malignant Neoplasm of the Thoracic Esophagus semapv:UnspecifiedMatching MONDO:0021325 malignant neoplasm of thoracic esophagus skos:exactMatch SCTID:187723009 semapv:UnspecifiedMatching MONDO:0021325 malignant neoplasm of thoracic esophagus skos:exactMatch UMLS:C0153411 semapv:UnspecifiedMatching MONDO:0021326 malignant neoplasm of cervical esophagus skos:exactMatch MEDGEN:141674 semapv:UnspecifiedMatching MONDO:0021326 malignant neoplasm of cervical esophagus skos:exactMatch NCIT:C4763 Malignant Neoplasm of the Cervical Esophagus semapv:UnspecifiedMatching MONDO:0021326 malignant neoplasm of cervical esophagus skos:exactMatch SCTID:187722004 semapv:UnspecifiedMatching MONDO:0021326 malignant neoplasm of cervical esophagus skos:exactMatch UMLS:C0496773 semapv:UnspecifiedMatching MONDO:0021327 carcinoma of urethra skos:exactMatch MEDGEN:757195 semapv:UnspecifiedMatching MONDO:0021327 carcinoma of urethra skos:exactMatch NCIT:C9106 Urethral Carcinoma semapv:UnspecifiedMatching MONDO:0021327 carcinoma of urethra skos:exactMatch SCTID:448954003 semapv:UnspecifiedMatching MONDO:0021327 carcinoma of urethra skos:exactMatch UMLS:C3164789 semapv:UnspecifiedMatching MONDO:0021329 carcinoma of soft palate skos:exactMatch MEDGEN:87505 semapv:UnspecifiedMatching MONDO:0021329 carcinoma of soft palate skos:exactMatch NCIT:C8395 Soft Palate Carcinoma semapv:UnspecifiedMatching MONDO:0021329 carcinoma of soft palate skos:exactMatch SCTID:254435009 semapv:UnspecifiedMatching MONDO:0021329 carcinoma of soft palate skos:exactMatch UMLS:C0345555 semapv:UnspecifiedMatching MONDO:0021331 carcinoma of parotid gland skos:exactMatch EFO:1000460 semapv:UnspecifiedMatching MONDO:0021331 carcinoma of parotid gland skos:exactMatch MEDGEN:91047 semapv:UnspecifiedMatching MONDO:0021331 carcinoma of parotid gland skos:exactMatch NCIT:C6791 Parotid Gland Carcinoma semapv:UnspecifiedMatching MONDO:0021331 carcinoma of parotid gland skos:exactMatch SCTID:254462001 semapv:UnspecifiedMatching MONDO:0021331 carcinoma of parotid gland skos:exactMatch UMLS:C0345602 semapv:UnspecifiedMatching MONDO:0021333 carcinoma of lip skos:exactMatch MEDGEN:56195 semapv:UnspecifiedMatching MONDO:0021333 carcinoma of lip skos:exactMatch NCIT:C3490 Lip Carcinoma semapv:UnspecifiedMatching MONDO:0021333 carcinoma of lip skos:exactMatch SCTID:269515006 semapv:UnspecifiedMatching MONDO:0021333 carcinoma of lip skos:exactMatch UMLS:C0149637 semapv:UnspecifiedMatching MONDO:0021334 immunoproliferative disorder skos:exactMatch MEDGEN:7038 semapv:UnspecifiedMatching MONDO:0021334 immunoproliferative disorder skos:exactMatch SCTID:127071007 semapv:UnspecifiedMatching MONDO:0021334 immunoproliferative disorder skos:exactMatch UMLS:C0021070 semapv:UnspecifiedMatching MONDO:0021334 immunoproliferative disorder skos:exactMatch mesh:D007160 semapv:UnspecifiedMatching MONDO:0021335 carcinoma of duodenum skos:exactMatch MEDGEN:107442 semapv:UnspecifiedMatching MONDO:0021335 carcinoma of duodenum skos:exactMatch NCIT:C4803 Duodenal Carcinoma semapv:UnspecifiedMatching MONDO:0021335 carcinoma of duodenum skos:exactMatch SCTID:254570009 semapv:UnspecifiedMatching MONDO:0021335 carcinoma of duodenum skos:exactMatch UMLS:C0541912 semapv:UnspecifiedMatching MONDO:0021335 carcinoma of duodenum skos:exactMatch icd11.foundation:220022932 Carcinoma of duodenum semapv:UnspecifiedMatching MONDO:0021337 tonsil carcinoma skos:exactMatch MEDGEN:107535 semapv:UnspecifiedMatching MONDO:0021337 tonsil carcinoma skos:exactMatch NCIT:C4825 Tonsillar Carcinoma semapv:UnspecifiedMatching MONDO:0021337 tonsil carcinoma skos:exactMatch SCTID:274085008 semapv:UnspecifiedMatching MONDO:0021337 tonsil carcinoma skos:exactMatch UMLS:C0558355 semapv:UnspecifiedMatching MONDO:0021339 carcinoma of hard palate skos:exactMatch MEDGEN:138019 semapv:UnspecifiedMatching MONDO:0021339 carcinoma of hard palate skos:exactMatch NCIT:C8394 Hard Palate Carcinoma semapv:UnspecifiedMatching MONDO:0021339 carcinoma of hard palate skos:exactMatch SCTID:254434008 semapv:UnspecifiedMatching MONDO:0021339 carcinoma of hard palate skos:exactMatch UMLS:C0345550 semapv:UnspecifiedMatching MONDO:0021340 intertrigo skos:exactMatch MEDGEN:43928 semapv:UnspecifiedMatching MONDO:0021340 intertrigo skos:exactMatch SCTID:58759008 semapv:UnspecifiedMatching MONDO:0021340 intertrigo skos:exactMatch UMLS:C0021807 semapv:UnspecifiedMatching MONDO:0021340 intertrigo skos:exactMatch mesh:D007402 semapv:UnspecifiedMatching MONDO:0021343 carcinoma of floor of mouth skos:exactMatch MEDGEN:756825 semapv:UnspecifiedMatching MONDO:0021343 carcinoma of floor of mouth skos:exactMatch NCIT:C9319 Floor of the Mouth Carcinoma semapv:UnspecifiedMatching MONDO:0021343 carcinoma of floor of mouth skos:exactMatch SCTID:449156009 semapv:UnspecifiedMatching MONDO:0021343 carcinoma of floor of mouth skos:exactMatch UMLS:C3164417 semapv:UnspecifiedMatching MONDO:0021345 carcinoma of pharynx skos:exactMatch MEDGEN:757152 semapv:UnspecifiedMatching MONDO:0021345 carcinoma of pharynx skos:exactMatch NCIT:C9466 Pharyngeal Carcinoma semapv:UnspecifiedMatching MONDO:0021345 carcinoma of pharynx skos:exactMatch SCTID:449254004 semapv:UnspecifiedMatching MONDO:0021345 carcinoma of pharynx skos:exactMatch UMLS:C3164746 semapv:UnspecifiedMatching MONDO:0021348 neoplasm of testis skos:exactMatch MEDGEN:52675 semapv:UnspecifiedMatching MONDO:0021348 neoplasm of testis skos:exactMatch NCIT:C3404 Testicular Neoplasm semapv:UnspecifiedMatching MONDO:0021348 neoplasm of testis skos:exactMatch SCTID:126900000 semapv:UnspecifiedMatching MONDO:0021348 neoplasm of testis skos:exactMatch UMLS:C0039590 semapv:UnspecifiedMatching MONDO:0021350 neoplasm of thorax skos:exactMatch MEDGEN:11793 semapv:UnspecifiedMatching MONDO:0021350 neoplasm of thorax skos:exactMatch NCIT:C3406 Thoracic Neoplasm semapv:UnspecifiedMatching MONDO:0021350 neoplasm of thorax skos:exactMatch SCTID:255058005 semapv:UnspecifiedMatching MONDO:0021350 neoplasm of thorax skos:exactMatch UMLS:C0039981 semapv:UnspecifiedMatching MONDO:0021351 neoplasm of neck skos:exactMatch MEDGEN:10279 semapv:UnspecifiedMatching MONDO:0021351 neoplasm of neck skos:exactMatch NCIT:C3260 Neck Neoplasm semapv:UnspecifiedMatching MONDO:0021351 neoplasm of neck skos:exactMatch SCTID:126635000 semapv:UnspecifiedMatching MONDO:0021351 neoplasm of neck skos:exactMatch UMLS:C0027533 semapv:UnspecifiedMatching MONDO:0021353 tumor of uterus skos:exactMatch EFO:0003859 semapv:UnspecifiedMatching MONDO:0021353 tumor of uterus skos:exactMatch MEDGEN:12030 semapv:UnspecifiedMatching MONDO:0021353 tumor of uterus skos:exactMatch NCIT:C3435 Uterine Neoplasm semapv:UnspecifiedMatching MONDO:0021353 tumor of uterus skos:exactMatch SCTID:126908007 semapv:UnspecifiedMatching MONDO:0021353 tumor of uterus skos:exactMatch UMLS:C0042138 semapv:UnspecifiedMatching MONDO:0021354 tumor of adipose tissue skos:exactMatch MEDGEN:61646 semapv:UnspecifiedMatching MONDO:0021354 tumor of adipose tissue skos:exactMatch NCIT:C4248 Lipomatous Neoplasm semapv:UnspecifiedMatching MONDO:0021354 tumor of adipose tissue skos:exactMatch SCTID:254831005 semapv:UnspecifiedMatching MONDO:0021354 tumor of adipose tissue skos:exactMatch UMLS:C0206631 semapv:UnspecifiedMatching MONDO:0021355 neoplasm of esophagus skos:exactMatch MEDGEN:4547 semapv:UnspecifiedMatching MONDO:0021355 neoplasm of esophagus skos:exactMatch NCIT:C3028 Esophageal Neoplasm semapv:UnspecifiedMatching MONDO:0021355 neoplasm of esophagus skos:exactMatch SCTID:126817006 semapv:UnspecifiedMatching MONDO:0021355 neoplasm of esophagus skos:exactMatch UMLS:C0014859 semapv:UnspecifiedMatching MONDO:0021357 tumor of salivary gland skos:exactMatch EFO:1000384 semapv:UnspecifiedMatching MONDO:0021357 tumor of salivary gland skos:exactMatch MEDGEN:20641 semapv:UnspecifiedMatching MONDO:0021357 tumor of salivary gland skos:exactMatch NCIT:C3361 Salivary Gland Neoplasm semapv:UnspecifiedMatching MONDO:0021357 tumor of salivary gland skos:exactMatch SCTID:235132004 semapv:UnspecifiedMatching MONDO:0021357 tumor of salivary gland skos:exactMatch UMLS:C0036095 semapv:UnspecifiedMatching MONDO:0021358 neoplasm of hypopharynx skos:exactMatch MEDGEN:43797 semapv:UnspecifiedMatching MONDO:0021358 neoplasm of hypopharynx skos:exactMatch NCIT:C3127 Hypopharyngeal Neoplasm semapv:UnspecifiedMatching MONDO:0021358 neoplasm of hypopharynx skos:exactMatch SCTID:126686005 semapv:UnspecifiedMatching MONDO:0021358 neoplasm of hypopharynx skos:exactMatch UMLS:C0020627 semapv:UnspecifiedMatching MONDO:0021360 tumor of parathyroid gland skos:exactMatch MEDGEN:10586 semapv:UnspecifiedMatching MONDO:0021360 tumor of parathyroid gland skos:exactMatch NCIT:C3313 Parathyroid Gland Neoplasm semapv:UnspecifiedMatching MONDO:0021360 tumor of parathyroid gland skos:exactMatch SCTID:127020005 semapv:UnspecifiedMatching MONDO:0021360 tumor of parathyroid gland skos:exactMatch UMLS:C0030521 semapv:UnspecifiedMatching MONDO:0021364 neoplasm of oropharynx skos:exactMatch MEDGEN:14519 semapv:UnspecifiedMatching MONDO:0021364 neoplasm of oropharynx skos:exactMatch NCIT:C3291 Oropharyngeal Neoplasm semapv:UnspecifiedMatching MONDO:0021364 neoplasm of oropharynx skos:exactMatch SCTID:126809003 semapv:UnspecifiedMatching MONDO:0021364 neoplasm of oropharynx skos:exactMatch UMLS:C0029295 semapv:UnspecifiedMatching MONDO:0021366 neoplasm of middle ear skos:exactMatch MEDGEN:87509 semapv:UnspecifiedMatching MONDO:0021366 neoplasm of middle ear skos:exactMatch NCIT:C4412 Middle Ear Neoplasm semapv:UnspecifiedMatching MONDO:0021366 neoplasm of middle ear skos:exactMatch SCTID:127006003 semapv:UnspecifiedMatching MONDO:0021366 neoplasm of middle ear skos:exactMatch UMLS:C0345617 semapv:UnspecifiedMatching MONDO:0021367 leukemia, myeloid, accelerated-phase skos:exactMatch MEDGEN:6059 semapv:UnspecifiedMatching MONDO:0021367 leukemia, myeloid, accelerated-phase skos:exactMatch NCIT:C3173 Accelerated Phase Chronic Myeloid Leukemia, BCR-ABL1 Positive semapv:UnspecifiedMatching MONDO:0021367 leukemia, myeloid, accelerated-phase skos:exactMatch UMLS:C0023472 semapv:UnspecifiedMatching MONDO:0021367 leukemia, myeloid, accelerated-phase skos:exactMatch mesh:D015465 semapv:UnspecifiedMatching MONDO:0021368 neoplasm of major salivary gland skos:exactMatch MEDGEN:83383 semapv:UnspecifiedMatching MONDO:0021368 neoplasm of major salivary gland skos:exactMatch NCIT:C4407 Major Salivary Gland Neoplasm semapv:UnspecifiedMatching MONDO:0021368 neoplasm of major salivary gland skos:exactMatch SCTID:126787005 semapv:UnspecifiedMatching MONDO:0021368 neoplasm of major salivary gland skos:exactMatch UMLS:C0345599 semapv:UnspecifiedMatching MONDO:0021370 neoplasm of minor salivary gland skos:exactMatch MEDGEN:138022 semapv:UnspecifiedMatching MONDO:0021370 neoplasm of minor salivary gland skos:exactMatch NCIT:C4409 Minor Salivary Gland Neoplasm semapv:UnspecifiedMatching MONDO:0021370 neoplasm of minor salivary gland skos:exactMatch SCTID:126798006 semapv:UnspecifiedMatching MONDO:0021370 neoplasm of minor salivary gland skos:exactMatch UMLS:C0345613 semapv:UnspecifiedMatching MONDO:0021372 neoplasm of temporal lobe skos:exactMatch MEDGEN:224731 semapv:UnspecifiedMatching MONDO:0021372 neoplasm of temporal lobe skos:exactMatch NCIT:C5567 Temporal Lobe Neoplasm semapv:UnspecifiedMatching MONDO:0021372 neoplasm of temporal lobe skos:exactMatch SCTID:126955002 semapv:UnspecifiedMatching MONDO:0021372 neoplasm of temporal lobe skos:exactMatch UMLS:C1263887 semapv:UnspecifiedMatching MONDO:0021373 neoplasm of parietal lobe skos:exactMatch MEDGEN:266073 semapv:UnspecifiedMatching MONDO:0021373 neoplasm of parietal lobe skos:exactMatch NCIT:C5573 Parietal Lobe Neoplasm semapv:UnspecifiedMatching MONDO:0021373 neoplasm of parietal lobe skos:exactMatch SCTID:126956001 semapv:UnspecifiedMatching MONDO:0021373 neoplasm of parietal lobe skos:exactMatch UMLS:C1263888 semapv:UnspecifiedMatching MONDO:0021374 neoplasm of cerebral hemisphere skos:exactMatch MEDGEN:224729 semapv:UnspecifiedMatching MONDO:0021374 neoplasm of cerebral hemisphere skos:exactMatch NCIT:C4874 Cerebral Neoplasm semapv:UnspecifiedMatching MONDO:0021374 neoplasm of cerebral hemisphere skos:exactMatch SCTID:126953009 semapv:UnspecifiedMatching MONDO:0021374 neoplasm of cerebral hemisphere skos:exactMatch UMLS:C1263885 semapv:UnspecifiedMatching MONDO:0021375 tumor of duodenum skos:exactMatch MEDGEN:8503 semapv:UnspecifiedMatching MONDO:0021375 tumor of duodenum skos:exactMatch NCIT:C2995 Duodenal Neoplasm semapv:UnspecifiedMatching MONDO:0021375 tumor of duodenum skos:exactMatch SCTID:126833009 semapv:UnspecifiedMatching MONDO:0021375 tumor of duodenum skos:exactMatch UMLS:C0013291 semapv:UnspecifiedMatching MONDO:0021377 hypertrophic lichen planus skos:exactMatch ICD10CM:L43.0 Hypertrophic lichen planus semapv:UnspecifiedMatching MONDO:0021377 hypertrophic lichen planus skos:exactMatch MEDGEN:9756 semapv:UnspecifiedMatching MONDO:0021377 hypertrophic lichen planus skos:exactMatch NCIT:C34779 Hypertrophic Lichen Planus semapv:UnspecifiedMatching MONDO:0021377 hypertrophic lichen planus skos:exactMatch SCTID:68266006 semapv:UnspecifiedMatching MONDO:0021377 hypertrophic lichen planus skos:exactMatch UMLS:C0023649 semapv:UnspecifiedMatching MONDO:0021377 hypertrophic lichen planus skos:exactMatch icd11.foundation:1096967508 Hypertrophic lichen planus semapv:UnspecifiedMatching MONDO:0021378 neoplasm of endocardium skos:exactMatch MEDGEN:220938 semapv:UnspecifiedMatching MONDO:0021378 neoplasm of endocardium skos:exactMatch NCIT:C5346 Endocardial Neoplasm semapv:UnspecifiedMatching MONDO:0021378 neoplasm of endocardium skos:exactMatch SCTID:126731002 semapv:UnspecifiedMatching MONDO:0021378 neoplasm of endocardium skos:exactMatch UMLS:C1290401 semapv:UnspecifiedMatching MONDO:0021379 neoplasm of epicardium skos:exactMatch MEDGEN:224850 semapv:UnspecifiedMatching MONDO:0021379 neoplasm of epicardium skos:exactMatch NCIT:C5347 Epicardial Neoplasm semapv:UnspecifiedMatching MONDO:0021379 neoplasm of epicardium skos:exactMatch SCTID:126733004 semapv:UnspecifiedMatching MONDO:0021379 neoplasm of epicardium skos:exactMatch UMLS:C1290403 semapv:UnspecifiedMatching MONDO:0021380 neoplasm of myocardium skos:exactMatch MEDGEN:266216 semapv:UnspecifiedMatching MONDO:0021380 neoplasm of myocardium skos:exactMatch NCIT:C5349 Myocardial Neoplasm semapv:UnspecifiedMatching MONDO:0021380 neoplasm of myocardium skos:exactMatch SCTID:126732009 semapv:UnspecifiedMatching MONDO:0021380 neoplasm of myocardium skos:exactMatch UMLS:C1290402 semapv:UnspecifiedMatching MONDO:0021381 neoplasm of pericardium skos:exactMatch MEDGEN:91156 semapv:UnspecifiedMatching MONDO:0021381 neoplasm of pericardium skos:exactMatch NCIT:C4651 Pericardial Neoplasm semapv:UnspecifiedMatching MONDO:0021381 neoplasm of pericardium skos:exactMatch SCTID:126734005 semapv:UnspecifiedMatching MONDO:0021381 neoplasm of pericardium skos:exactMatch UMLS:C0349574 semapv:UnspecifiedMatching MONDO:0021383 neoplasm of floor of mouth skos:exactMatch MEDGEN:91045 semapv:UnspecifiedMatching MONDO:0021383 neoplasm of floor of mouth skos:exactMatch NCIT:C4401 Floor of the Mouth Neoplasm semapv:UnspecifiedMatching MONDO:0021383 neoplasm of floor of mouth skos:exactMatch SCTID:126799003 semapv:UnspecifiedMatching MONDO:0021383 neoplasm of floor of mouth skos:exactMatch UMLS:C0345538 semapv:UnspecifiedMatching MONDO:0021385 extrahepatic bile duct neoplasm skos:exactMatch MEDGEN:91056 semapv:UnspecifiedMatching MONDO:0021385 extrahepatic bile duct neoplasm skos:exactMatch NCIT:C4441 Extrahepatic Bile Duct Neoplasm semapv:UnspecifiedMatching MONDO:0021385 extrahepatic bile duct neoplasm skos:exactMatch SCTID:126855001 semapv:UnspecifiedMatching MONDO:0021385 extrahepatic bile duct neoplasm skos:exactMatch UMLS:C0345913 semapv:UnspecifiedMatching MONDO:0021386 neoplasm of mediastinum skos:exactMatch MEDGEN:44322 semapv:UnspecifiedMatching MONDO:0021386 neoplasm of mediastinum skos:exactMatch NCIT:C3221 Mediastinal Neoplasm semapv:UnspecifiedMatching MONDO:0021386 neoplasm of mediastinum skos:exactMatch SCTID:126725000 semapv:UnspecifiedMatching MONDO:0021386 neoplasm of mediastinum skos:exactMatch UMLS:C0025063 semapv:UnspecifiedMatching MONDO:0021388 neoplasm of chest wall skos:exactMatch MEDGEN:220935 semapv:UnspecifiedMatching MONDO:0021388 neoplasm of chest wall skos:exactMatch NCIT:C4929 Chest Wall Neoplasm semapv:UnspecifiedMatching MONDO:0021388 neoplasm of chest wall skos:exactMatch SCTID:126640008 semapv:UnspecifiedMatching MONDO:0021388 neoplasm of chest wall skos:exactMatch UMLS:C1290309 semapv:UnspecifiedMatching MONDO:0021389 neoplasm of aortic body skos:exactMatch MEDGEN:87236 semapv:UnspecifiedMatching MONDO:0021389 neoplasm of aortic body skos:exactMatch NCIT:C4218 Aorticopulmonary Paraganglioma semapv:UnspecifiedMatching MONDO:0021389 neoplasm of aortic body skos:exactMatch SCTID:127029006 semapv:UnspecifiedMatching MONDO:0021389 neoplasm of aortic body skos:exactMatch UMLS:C0334417 semapv:UnspecifiedMatching MONDO:0021390 polyp of ureter skos:exactMatch MEDGEN:138051 semapv:UnspecifiedMatching MONDO:0021390 polyp of ureter skos:exactMatch NCIT:C4530 Ureter Polyp semapv:UnspecifiedMatching MONDO:0021390 polyp of ureter skos:exactMatch SCTID:197821004 semapv:UnspecifiedMatching MONDO:0021390 polyp of ureter skos:exactMatch UMLS:C0346269 semapv:UnspecifiedMatching MONDO:0021390 polyp of ureter skos:exactMatch icd11.foundation:134277787 Polyp of ureter semapv:UnspecifiedMatching MONDO:0021392 polyp of large intestine skos:exactMatch MEDGEN:182694 semapv:UnspecifiedMatching MONDO:0021392 polyp of large intestine skos:exactMatch NCIT:C5679 Colorectal Polyp semapv:UnspecifiedMatching MONDO:0021392 polyp of large intestine skos:exactMatch SCTID:399505005 semapv:UnspecifiedMatching MONDO:0021392 polyp of large intestine skos:exactMatch UMLS:C0949059 semapv:UnspecifiedMatching MONDO:0021392 polyp of large intestine skos:exactMatch icd11.foundation:537826614 Polyp of large intestine semapv:UnspecifiedMatching MONDO:0021394 polyp of vagina skos:exactMatch ICD10CM:N84.2 Polyp of vagina semapv:UnspecifiedMatching MONDO:0021394 polyp of vagina skos:exactMatch MEDGEN:56378 semapv:UnspecifiedMatching MONDO:0021394 polyp of vagina skos:exactMatch NCIT:C3664 Vaginal Polyp semapv:UnspecifiedMatching MONDO:0021394 polyp of vagina skos:exactMatch SCTID:29609001 semapv:UnspecifiedMatching MONDO:0021394 polyp of vagina skos:exactMatch UMLS:C0156390 semapv:UnspecifiedMatching MONDO:0021394 polyp of vagina skos:exactMatch icd11.foundation:1664143745 Polyp of vagina semapv:UnspecifiedMatching MONDO:0021396 polyp of vulva skos:exactMatch ICD10CM:N84.3 Polyp of vulva semapv:UnspecifiedMatching MONDO:0021396 polyp of vulva skos:exactMatch MEDGEN:124351 semapv:UnspecifiedMatching MONDO:0021396 polyp of vulva skos:exactMatch NCIT:C3978 Vulvar Polyp semapv:UnspecifiedMatching MONDO:0021396 polyp of vulva skos:exactMatch SCTID:57158005 semapv:UnspecifiedMatching MONDO:0021396 polyp of vulva skos:exactMatch UMLS:C0269218 semapv:UnspecifiedMatching MONDO:0021396 polyp of vulva skos:exactMatch icd11.foundation:108731413 Polyp of vulva semapv:UnspecifiedMatching MONDO:0021398 polyp of rectum skos:exactMatch ICD10CM:K62.1 Rectal polyp semapv:UnspecifiedMatching MONDO:0021398 polyp of rectum skos:exactMatch MEDGEN:11150 semapv:UnspecifiedMatching MONDO:0021398 polyp of rectum skos:exactMatch NCIT:C3351 Rectal Polyp semapv:UnspecifiedMatching MONDO:0021398 polyp of rectum skos:exactMatch SCTID:39772007 semapv:UnspecifiedMatching MONDO:0021398 polyp of rectum skos:exactMatch UMLS:C0034887 semapv:UnspecifiedMatching MONDO:0021398 polyp of rectum skos:exactMatch icd11.foundation:2101432719 Polyp of rectum semapv:UnspecifiedMatching MONDO:0021400 polyp of colon skos:exactMatch ICD10CM:K63.5 Polyp of colon semapv:UnspecifiedMatching MONDO:0021400 polyp of colon skos:exactMatch MEDGEN:3166 semapv:UnspecifiedMatching MONDO:0021400 polyp of colon skos:exactMatch NCIT:C2954 Colon Polyp semapv:UnspecifiedMatching MONDO:0021400 polyp of colon skos:exactMatch SCTID:68496003 semapv:UnspecifiedMatching MONDO:0021400 polyp of colon skos:exactMatch UMLS:C0009376 semapv:UnspecifiedMatching MONDO:0021400 polyp of colon skos:exactMatch icd11.foundation:1408488915 Polyp of colon semapv:UnspecifiedMatching MONDO:0021400 polyp of colon skos:exactMatch mesh:D003111 semapv:UnspecifiedMatching MONDO:0021402 polyp of external auditory canal skos:exactMatch MEDGEN:87394 semapv:UnspecifiedMatching MONDO:0021402 polyp of external auditory canal skos:exactMatch NCIT:C4366 External Ear Polyp semapv:UnspecifiedMatching MONDO:0021402 polyp of external auditory canal skos:exactMatch SCTID:95211004 semapv:UnspecifiedMatching MONDO:0021402 polyp of external auditory canal skos:exactMatch UMLS:C0339765 semapv:UnspecifiedMatching MONDO:0021404 polyp of sphenoidal sinus skos:exactMatch MEDGEN:75538 semapv:UnspecifiedMatching MONDO:0021404 polyp of sphenoidal sinus skos:exactMatch NCIT:C3933 Sphenoid Sinus Polyp semapv:UnspecifiedMatching MONDO:0021404 polyp of sphenoidal sinus skos:exactMatch SCTID:90685008 semapv:UnspecifiedMatching MONDO:0021404 polyp of sphenoidal sinus skos:exactMatch UMLS:C0264255 semapv:UnspecifiedMatching MONDO:0021408 polyp of frontal sinus skos:exactMatch MEDGEN:137927 semapv:UnspecifiedMatching MONDO:0021408 polyp of frontal sinus skos:exactMatch NCIT:C4367 Frontal Sinus Polyp semapv:UnspecifiedMatching MONDO:0021408 polyp of frontal sinus skos:exactMatch SCTID:195759002 semapv:UnspecifiedMatching MONDO:0021408 polyp of frontal sinus skos:exactMatch UMLS:C0339814 semapv:UnspecifiedMatching MONDO:0021408 polyp of frontal sinus skos:exactMatch icd11.foundation:1462900314 Polyp of frontal sinus semapv:UnspecifiedMatching MONDO:0021412 polyp of maxillary sinus skos:exactMatch MEDGEN:120498 semapv:UnspecifiedMatching MONDO:0021412 polyp of maxillary sinus skos:exactMatch NCIT:C3931 Maxillary Sinus Polyp semapv:UnspecifiedMatching MONDO:0021412 polyp of maxillary sinus skos:exactMatch SCTID:29074008 semapv:UnspecifiedMatching MONDO:0021412 polyp of maxillary sinus skos:exactMatch UMLS:C0264239 semapv:UnspecifiedMatching MONDO:0021416 polyp of gallbladder skos:exactMatch MEDGEN:120463 semapv:UnspecifiedMatching MONDO:0021416 polyp of gallbladder skos:exactMatch NCIT:C3909 Gallbladder Polyp semapv:UnspecifiedMatching MONDO:0021416 polyp of gallbladder skos:exactMatch SCTID:197433003 semapv:UnspecifiedMatching MONDO:0021416 polyp of gallbladder skos:exactMatch UMLS:C0262493 semapv:UnspecifiedMatching MONDO:0021416 polyp of gallbladder skos:exactMatch icd11.foundation:839854600 Polyp of gallbladder semapv:UnspecifiedMatching MONDO:0021418 polyp of ethmoidal sinus skos:exactMatch MEDGEN:82675 semapv:UnspecifiedMatching MONDO:0021418 polyp of ethmoidal sinus skos:exactMatch NCIT:C3932 Ethmoid Sinus Polyp semapv:UnspecifiedMatching MONDO:0021418 polyp of ethmoidal sinus skos:exactMatch SCTID:23966000 semapv:UnspecifiedMatching MONDO:0021418 polyp of ethmoidal sinus skos:exactMatch UMLS:C0264248 semapv:UnspecifiedMatching MONDO:0021420 polyp of vocal cord skos:exactMatch EFO:0009478 semapv:UnspecifiedMatching MONDO:0021420 polyp of vocal cord skos:exactMatch MEDGEN:21887 semapv:UnspecifiedMatching MONDO:0021420 polyp of vocal cord skos:exactMatch NCIT:C3440 Vocal Cord Polyp semapv:UnspecifiedMatching MONDO:0021420 polyp of vocal cord skos:exactMatch SCTID:9078005 semapv:UnspecifiedMatching MONDO:0021420 polyp of vocal cord skos:exactMatch UMLS:C0042929 semapv:UnspecifiedMatching MONDO:0021420 polyp of vocal cord skos:exactMatch icd11.foundation:1351291002 Polyp of vocal cord semapv:UnspecifiedMatching MONDO:0021424 hemangiopericytoma of skin skos:exactMatch MEDGEN:91081 semapv:UnspecifiedMatching MONDO:0021424 hemangiopericytoma of skin skos:exactMatch NCIT:C4492 Skin Hemangiopericytoma semapv:UnspecifiedMatching MONDO:0021424 hemangiopericytoma of skin skos:exactMatch SCTID:254796009 semapv:UnspecifiedMatching MONDO:0021424 hemangiopericytoma of skin skos:exactMatch UMLS:C0346084 semapv:UnspecifiedMatching MONDO:0021427 squamous cell carcinoma of lip skos:exactMatch MEDGEN:79099 semapv:UnspecifiedMatching MONDO:0021427 squamous cell carcinoma of lip skos:exactMatch NCIT:C4042 Lip Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0021427 squamous cell carcinoma of lip skos:exactMatch Orphanet:502366 Squamous cell carcinoma of the lip semapv:UnspecifiedMatching MONDO:0021427 squamous cell carcinoma of lip skos:exactMatch SCTID:255071008 semapv:UnspecifiedMatching MONDO:0021427 squamous cell carcinoma of lip skos:exactMatch UMLS:C0280302 semapv:UnspecifiedMatching MONDO:0021427 squamous cell carcinoma of lip skos:exactMatch icd11.foundation:1635251327 Squamous cell carcinoma of lip semapv:UnspecifiedMatching MONDO:0021429 squamous cell carcinoma of floor of mouth skos:exactMatch MEDGEN:124715 semapv:UnspecifiedMatching MONDO:0021429 squamous cell carcinoma of floor of mouth skos:exactMatch NCIT:C4041 Floor of Mouth Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0021429 squamous cell carcinoma of floor of mouth skos:exactMatch SCTID:276954004 semapv:UnspecifiedMatching MONDO:0021429 squamous cell carcinoma of floor of mouth skos:exactMatch UMLS:C0280300 semapv:UnspecifiedMatching MONDO:0021429 squamous cell carcinoma of floor of mouth skos:exactMatch icd11.foundation:755941113 Squamous cell carcinoma of floor of mouth semapv:UnspecifiedMatching MONDO:0021431 squamous cell carcinoma of buccal mucosa skos:exactMatch MEDGEN:83627 semapv:UnspecifiedMatching MONDO:0021431 squamous cell carcinoma of buccal mucosa skos:exactMatch NCIT:C4040 Buccal Mucosa Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0021431 squamous cell carcinoma of buccal mucosa skos:exactMatch SCTID:254437001 semapv:UnspecifiedMatching MONDO:0021431 squamous cell carcinoma of buccal mucosa skos:exactMatch UMLS:C0280299 semapv:UnspecifiedMatching MONDO:0021437 lipoma of stomach skos:exactMatch MEDGEN:234299 semapv:UnspecifiedMatching MONDO:0021437 lipoma of stomach skos:exactMatch NCIT:C5258 Gastric Lipoma semapv:UnspecifiedMatching MONDO:0021437 lipoma of stomach skos:exactMatch SCTID:695751021000132104 semapv:UnspecifiedMatching MONDO:0021437 lipoma of stomach skos:exactMatch UMLS:C1333777 semapv:UnspecifiedMatching MONDO:0021439 benign neoplasm of pituitary gland skos:exactMatch DOID:60009 pituitary gland benign neoplasm semapv:UnspecifiedMatching MONDO:0021439 benign neoplasm of pituitary gland skos:exactMatch ICD10CM:D35.2 Benign neoplasm of pituitary gland semapv:UnspecifiedMatching MONDO:0021439 benign neoplasm of pituitary gland skos:exactMatch MEDGEN:141679 semapv:UnspecifiedMatching MONDO:0021439 benign neoplasm of pituitary gland skos:exactMatch NCIT:C4782 Benign Pituitary Gland Neoplasm semapv:UnspecifiedMatching MONDO:0021439 benign neoplasm of pituitary gland skos:exactMatch SCTID:92296004 semapv:UnspecifiedMatching MONDO:0021439 benign neoplasm of pituitary gland skos:exactMatch UMLS:C0496901 semapv:UnspecifiedMatching MONDO:0021439 benign neoplasm of pituitary gland skos:exactMatch icd11.foundation:1871539651 Benign neoplasm of pituitary gland semapv:UnspecifiedMatching MONDO:0021440 benign neoplasm of skin skos:exactMatch MEDGEN:2197 semapv:UnspecifiedMatching MONDO:0021440 benign neoplasm of skin skos:exactMatch NCIT:C2896 Benign Skin Neoplasm semapv:UnspecifiedMatching MONDO:0021440 benign neoplasm of skin skos:exactMatch SCTID:92384009 semapv:UnspecifiedMatching MONDO:0021440 benign neoplasm of skin skos:exactMatch UMLS:C0004998 semapv:UnspecifiedMatching MONDO:0021441 benign neoplasm of exocrine pancreas skos:exactMatch DOID:0080781 benign exocrine pancreas neoplasm semapv:UnspecifiedMatching MONDO:0021441 benign neoplasm of exocrine pancreas skos:exactMatch MEDGEN:138080 semapv:UnspecifiedMatching MONDO:0021441 benign neoplasm of exocrine pancreas skos:exactMatch SCTID:271956003 semapv:UnspecifiedMatching MONDO:0021441 benign neoplasm of exocrine pancreas skos:exactMatch UMLS:C0347285 semapv:UnspecifiedMatching MONDO:0021443 benign neoplasm of lymph node skos:exactMatch DOID:0080617 lymph node benign neoplasm semapv:UnspecifiedMatching MONDO:0021443 benign neoplasm of lymph node skos:exactMatch MEDGEN:57815 semapv:UnspecifiedMatching MONDO:0021443 benign neoplasm of lymph node skos:exactMatch NCIT:C3636 Benign Lymph Node Neoplasm semapv:UnspecifiedMatching MONDO:0021443 benign neoplasm of lymph node skos:exactMatch SCTID:92197001 semapv:UnspecifiedMatching MONDO:0021443 benign neoplasm of lymph node skos:exactMatch UMLS:C0154054 semapv:UnspecifiedMatching MONDO:0021444 benign neoplasm of large intestine skos:exactMatch MEDGEN:91125 semapv:UnspecifiedMatching MONDO:0021444 benign neoplasm of large intestine skos:exactMatch NCIT:C4610 Benign Colorectal Neoplasm semapv:UnspecifiedMatching MONDO:0021444 benign neoplasm of large intestine skos:exactMatch SCTID:92170008 semapv:UnspecifiedMatching MONDO:0021444 benign neoplasm of large intestine skos:exactMatch UMLS:C0347272 semapv:UnspecifiedMatching MONDO:0021444 benign neoplasm of large intestine skos:exactMatch icd11.foundation:477388501 Benign neoplasm of the large intestine semapv:UnspecifiedMatching MONDO:0021445 benign neoplasm of oral cavity skos:exactMatch MEDGEN:91119 semapv:UnspecifiedMatching MONDO:0021445 benign neoplasm of oral cavity skos:exactMatch NCIT:C7607 Benign Oral Cavity Neoplasm semapv:UnspecifiedMatching MONDO:0021445 benign neoplasm of oral cavity skos:exactMatch SCTID:419645003 semapv:UnspecifiedMatching MONDO:0021445 benign neoplasm of oral cavity skos:exactMatch UMLS:C0347197 semapv:UnspecifiedMatching MONDO:0021446 benign neoplasm of epiglottis skos:exactMatch MEDGEN:83861 semapv:UnspecifiedMatching MONDO:0021446 benign neoplasm of epiglottis skos:exactMatch NCIT:C4606 Benign Epiglottis Neoplasm semapv:UnspecifiedMatching MONDO:0021446 benign neoplasm of epiglottis skos:exactMatch SCTID:92089006 semapv:UnspecifiedMatching MONDO:0021446 benign neoplasm of epiglottis skos:exactMatch UMLS:C0347236 semapv:UnspecifiedMatching MONDO:0021446 benign neoplasm of epiglottis skos:exactMatch icd11.foundation:1549564600 Benign neoplasm of epiglottis semapv:UnspecifiedMatching MONDO:0021447 benign neoplasm of testis skos:exactMatch ICD10CM:D29.2 Benign neoplasm of testis semapv:UnspecifiedMatching MONDO:0021447 benign neoplasm of testis skos:exactMatch MEDGEN:57576 semapv:UnspecifiedMatching MONDO:0021447 benign neoplasm of testis skos:exactMatch NCIT:C3612 Benign Testicular Neoplasm semapv:UnspecifiedMatching MONDO:0021447 benign neoplasm of testis skos:exactMatch SCTID:92428008 semapv:UnspecifiedMatching MONDO:0021447 benign neoplasm of testis skos:exactMatch UMLS:C0154007 semapv:UnspecifiedMatching MONDO:0021447 benign neoplasm of testis skos:exactMatch icd11.foundation:815021426 Benign neoplasm of testis semapv:UnspecifiedMatching MONDO:0021449 benign neoplasm of stomach skos:exactMatch ICD10CM:D13.1 Benign neoplasm of stomach semapv:UnspecifiedMatching MONDO:0021449 benign neoplasm of stomach skos:exactMatch MEDGEN:57805 semapv:UnspecifiedMatching MONDO:0021449 benign neoplasm of stomach skos:exactMatch NCIT:C3599 Benign Gastric Neoplasm semapv:UnspecifiedMatching MONDO:0021449 benign neoplasm of stomach skos:exactMatch SCTID:92411005 semapv:UnspecifiedMatching MONDO:0021449 benign neoplasm of stomach skos:exactMatch UMLS:C0153943 semapv:UnspecifiedMatching MONDO:0021449 benign neoplasm of stomach skos:exactMatch icd11.foundation:479576735 Benign neoplasm of stomach semapv:UnspecifiedMatching MONDO:0021450 benign neoplasm of heart skos:exactMatch ICD10CM:D15.1 Benign neoplasm of heart semapv:UnspecifiedMatching MONDO:0021450 benign neoplasm of heart skos:exactMatch MEDGEN:57807 semapv:UnspecifiedMatching MONDO:0021450 benign neoplasm of heart skos:exactMatch NCIT:C3605 Benign Cardiac Neoplasm semapv:UnspecifiedMatching MONDO:0021450 benign neoplasm of heart skos:exactMatch SCTID:92132009 semapv:UnspecifiedMatching MONDO:0021450 benign neoplasm of heart skos:exactMatch UMLS:C0153957 semapv:UnspecifiedMatching MONDO:0021450 benign neoplasm of heart skos:exactMatch icd11.foundation:991198048 Benign neoplasm of heart semapv:UnspecifiedMatching MONDO:0021451 benign neoplasm of brain skos:exactMatch EFO:1000107 semapv:UnspecifiedMatching MONDO:0021451 benign neoplasm of brain skos:exactMatch MEDGEN:99225 semapv:UnspecifiedMatching MONDO:0021451 benign neoplasm of brain skos:exactMatch NCIT:C4781 Benign Brain Neoplasm semapv:UnspecifiedMatching MONDO:0021451 benign neoplasm of brain skos:exactMatch SCTID:92030004 semapv:UnspecifiedMatching MONDO:0021451 benign neoplasm of brain skos:exactMatch UMLS:C0496899 semapv:UnspecifiedMatching MONDO:0021452 benign neoplasm of cornea skos:exactMatch ICD10CM:D31.1 Benign neoplasm of cornea semapv:UnspecifiedMatching MONDO:0021452 benign neoplasm of cornea skos:exactMatch MEDGEN:57579 semapv:UnspecifiedMatching MONDO:0021452 benign neoplasm of cornea skos:exactMatch NCIT:C3623 Benign Corneal Neoplasm semapv:UnspecifiedMatching MONDO:0021452 benign neoplasm of cornea skos:exactMatch SCTID:92070006 semapv:UnspecifiedMatching MONDO:0021452 benign neoplasm of cornea skos:exactMatch UMLS:C0154026 semapv:UnspecifiedMatching MONDO:0021452 benign neoplasm of cornea skos:exactMatch icd11.foundation:568257604 Benign neoplasm of cornea semapv:UnspecifiedMatching MONDO:0021453 benign neoplasm of retina skos:exactMatch ICD10CM:D31.2 Benign neoplasm of retina semapv:UnspecifiedMatching MONDO:0021453 benign neoplasm of retina skos:exactMatch MEDGEN:57580 semapv:UnspecifiedMatching MONDO:0021453 benign neoplasm of retina skos:exactMatch NCIT:C3624 Benign Retinal Neoplasm semapv:UnspecifiedMatching MONDO:0021453 benign neoplasm of retina skos:exactMatch SCTID:92321003 semapv:UnspecifiedMatching MONDO:0021453 benign neoplasm of retina skos:exactMatch UMLS:C0154027 semapv:UnspecifiedMatching MONDO:0021453 benign neoplasm of retina skos:exactMatch icd11.foundation:1433648317 Benign neoplasm of retina semapv:UnspecifiedMatching MONDO:0021454 benign neoplasm of eye skos:exactMatch MEDGEN:401267 semapv:UnspecifiedMatching MONDO:0021454 benign neoplasm of eye skos:exactMatch NCIT:C4780 Benign Eye Neoplasm semapv:UnspecifiedMatching MONDO:0021454 benign neoplasm of eye skos:exactMatch SCTID:92097004 semapv:UnspecifiedMatching MONDO:0021454 benign neoplasm of eye skos:exactMatch UMLS:C1867616 semapv:UnspecifiedMatching MONDO:0021455 benign neoplasm of neck skos:exactMatch MEDGEN:195775 semapv:UnspecifiedMatching MONDO:0021455 benign neoplasm of neck skos:exactMatch NCIT:C4884 Benign Neck Neoplasm semapv:UnspecifiedMatching MONDO:0021455 benign neoplasm of neck skos:exactMatch SCTID:92246000 semapv:UnspecifiedMatching MONDO:0021455 benign neoplasm of neck skos:exactMatch UMLS:C0684815 semapv:UnspecifiedMatching MONDO:0021456 benign neoplasm of sternum skos:exactMatch MEDGEN:87573 semapv:UnspecifiedMatching MONDO:0021456 benign neoplasm of sternum skos:exactMatch NCIT:C8416 Benign Sternal Neoplasm semapv:UnspecifiedMatching MONDO:0021456 benign neoplasm of sternum skos:exactMatch SCTID:92410006 semapv:UnspecifiedMatching MONDO:0021456 benign neoplasm of sternum skos:exactMatch UMLS:C0347312 semapv:UnspecifiedMatching MONDO:0021457 benign neoplasm of pleura skos:exactMatch MEDGEN:57806 semapv:UnspecifiedMatching MONDO:0021457 benign neoplasm of pleura skos:exactMatch NCIT:C3603 Benign Pleural Neoplasm semapv:UnspecifiedMatching MONDO:0021457 benign neoplasm of pleura skos:exactMatch SCTID:92298003 semapv:UnspecifiedMatching MONDO:0021457 benign neoplasm of pleura skos:exactMatch UMLS:C0153955 semapv:UnspecifiedMatching MONDO:0021457 benign neoplasm of pleura skos:exactMatch icd11.foundation:2142393865 Benign neoplasm of pleura semapv:UnspecifiedMatching MONDO:0021458 benign neoplasm of penis skos:exactMatch ICD10CM:D29.0 Benign neoplasm of penis semapv:UnspecifiedMatching MONDO:0021458 benign neoplasm of penis skos:exactMatch MEDGEN:57435 semapv:UnspecifiedMatching MONDO:0021458 benign neoplasm of penis skos:exactMatch NCIT:C3489 Benign Penile Neoplasm semapv:UnspecifiedMatching MONDO:0021458 benign neoplasm of penis skos:exactMatch SCTID:92286008 semapv:UnspecifiedMatching MONDO:0021458 benign neoplasm of penis skos:exactMatch UMLS:C0149627 semapv:UnspecifiedMatching MONDO:0021458 benign neoplasm of penis skos:exactMatch icd11.foundation:561160219 Benign neoplasm of penis semapv:UnspecifiedMatching MONDO:0021459 benign neoplasm of esophagus skos:exactMatch ICD10CM:D13.0 Benign neoplasm of esophagus semapv:UnspecifiedMatching MONDO:0021459 benign neoplasm of esophagus skos:exactMatch MEDGEN:102297 semapv:UnspecifiedMatching MONDO:0021459 benign neoplasm of esophagus skos:exactMatch NCIT:C3598 Benign Esophageal Neoplasm semapv:UnspecifiedMatching MONDO:0021459 benign neoplasm of esophagus skos:exactMatch SCTID:92091003 semapv:UnspecifiedMatching MONDO:0021459 benign neoplasm of esophagus skos:exactMatch UMLS:C0153942 semapv:UnspecifiedMatching MONDO:0021459 benign neoplasm of esophagus skos:exactMatch icd11.foundation:1827459816 Benign neoplasm of oesophagus semapv:UnspecifiedMatching MONDO:0021460 benign neoplasm of salivary gland skos:exactMatch MEDGEN:83857 semapv:UnspecifiedMatching MONDO:0021460 benign neoplasm of salivary gland skos:exactMatch NCIT:C4600 Benign Salivary Gland Neoplasm semapv:UnspecifiedMatching MONDO:0021460 benign neoplasm of salivary gland skos:exactMatch SCTID:255154009 semapv:UnspecifiedMatching MONDO:0021460 benign neoplasm of salivary gland skos:exactMatch UMLS:C0347206 semapv:UnspecifiedMatching MONDO:0021461 benign neoplasm of hypopharynx skos:exactMatch ICD10CM:D10.7 Benign neoplasm of hypopharynx semapv:UnspecifiedMatching MONDO:0021461 benign neoplasm of hypopharynx skos:exactMatch MEDGEN:57575 semapv:UnspecifiedMatching MONDO:0021461 benign neoplasm of hypopharynx skos:exactMatch NCIT:C3596 Benign Hypopharyngeal Neoplasm semapv:UnspecifiedMatching MONDO:0021461 benign neoplasm of hypopharynx skos:exactMatch SCTID:92139000 semapv:UnspecifiedMatching MONDO:0021461 benign neoplasm of hypopharynx skos:exactMatch UMLS:C0153939 semapv:UnspecifiedMatching MONDO:0021461 benign neoplasm of hypopharynx skos:exactMatch icd11.foundation:196557985 Benign neoplasm of hypopharynx semapv:UnspecifiedMatching MONDO:0021462 benign neoplasm of rectum skos:exactMatch ICD10CM:D12.8 Benign neoplasm of rectum semapv:UnspecifiedMatching MONDO:0021462 benign neoplasm of rectum skos:exactMatch MEDGEN:99222 semapv:UnspecifiedMatching MONDO:0021462 benign neoplasm of rectum skos:exactMatch NCIT:C4774 Benign Rectal Neoplasm semapv:UnspecifiedMatching MONDO:0021462 benign neoplasm of rectum skos:exactMatch SCTID:92318000 semapv:UnspecifiedMatching MONDO:0021462 benign neoplasm of rectum skos:exactMatch UMLS:C0496867 semapv:UnspecifiedMatching MONDO:0021462 benign neoplasm of rectum skos:exactMatch icd11.foundation:1805730142 Benign neoplasm of rectum semapv:UnspecifiedMatching MONDO:0021463 benign neoplasm of parathyroid gland skos:exactMatch DOID:60008 parathyroid gland benign neoplasm semapv:UnspecifiedMatching MONDO:0021463 benign neoplasm of parathyroid gland skos:exactMatch ICD10CM:D35.1 Benign neoplasm of parathyroid gland semapv:UnspecifiedMatching MONDO:0021463 benign neoplasm of parathyroid gland skos:exactMatch MEDGEN:57814 semapv:UnspecifiedMatching MONDO:0021463 benign neoplasm of parathyroid gland skos:exactMatch NCIT:C3630 Benign Parathyroid Gland Neoplasm semapv:UnspecifiedMatching MONDO:0021463 benign neoplasm of parathyroid gland skos:exactMatch SCTID:92272009 semapv:UnspecifiedMatching MONDO:0021463 benign neoplasm of parathyroid gland skos:exactMatch UMLS:C0154041 semapv:UnspecifiedMatching MONDO:0021463 benign neoplasm of parathyroid gland skos:exactMatch icd11.foundation:455097662 Benign neoplasm of parathyroid gland semapv:UnspecifiedMatching MONDO:0021464 benign neoplasm of cecum skos:exactMatch ICD10CM:D12.0 Benign neoplasm of cecum semapv:UnspecifiedMatching MONDO:0021464 benign neoplasm of cecum skos:exactMatch MEDGEN:105420 semapv:UnspecifiedMatching MONDO:0021464 benign neoplasm of cecum skos:exactMatch NCIT:C4772 Benign Cecum Neoplasm semapv:UnspecifiedMatching MONDO:0021464 benign neoplasm of cecum skos:exactMatch SCTID:92040001 semapv:UnspecifiedMatching MONDO:0021464 benign neoplasm of cecum skos:exactMatch UMLS:C0496859 semapv:UnspecifiedMatching MONDO:0021464 benign neoplasm of cecum skos:exactMatch icd11.foundation:1697040268 Benign neoplasm of caecum semapv:UnspecifiedMatching MONDO:0021465 benign neoplasm of appendix skos:exactMatch ICD10CM:D12.1 Benign neoplasm of appendix semapv:UnspecifiedMatching MONDO:0021465 benign neoplasm of appendix skos:exactMatch MEDGEN:99221 semapv:UnspecifiedMatching MONDO:0021465 benign neoplasm of appendix skos:exactMatch NCIT:C4773 Benign Appendix Neoplasm semapv:UnspecifiedMatching MONDO:0021465 benign neoplasm of appendix skos:exactMatch SCTID:91981009 semapv:UnspecifiedMatching MONDO:0021465 benign neoplasm of appendix skos:exactMatch UMLS:C0496860 semapv:UnspecifiedMatching MONDO:0021465 benign neoplasm of appendix skos:exactMatch icd11.foundation:7146014 Benign neoplasm of appendix semapv:UnspecifiedMatching MONDO:0021467 benign neoplasm of renal pelvis skos:exactMatch ICD10CM:D30.1 Benign neoplasm of renal pelvis semapv:UnspecifiedMatching MONDO:0021467 benign neoplasm of renal pelvis skos:exactMatch MEDGEN:56327 semapv:UnspecifiedMatching MONDO:0021467 benign neoplasm of renal pelvis skos:exactMatch NCIT:C3616 Benign Renal Pelvis Neoplasm semapv:UnspecifiedMatching MONDO:0021467 benign neoplasm of renal pelvis skos:exactMatch SCTID:92319008 semapv:UnspecifiedMatching MONDO:0021467 benign neoplasm of renal pelvis skos:exactMatch UMLS:C0154015 semapv:UnspecifiedMatching MONDO:0021467 benign neoplasm of renal pelvis skos:exactMatch icd11.foundation:1025909955 Benign neoplasm of renal pelvis semapv:UnspecifiedMatching MONDO:0021468 benign neoplasm of adrenal medulla skos:exactMatch MEDGEN:151941 semapv:UnspecifiedMatching MONDO:0021468 benign neoplasm of adrenal medulla skos:exactMatch NCIT:C4895 Benign Adrenal Medulla Neoplasm semapv:UnspecifiedMatching MONDO:0021468 benign neoplasm of adrenal medulla skos:exactMatch SCTID:91968002 semapv:UnspecifiedMatching MONDO:0021468 benign neoplasm of adrenal medulla skos:exactMatch UMLS:C0686512 semapv:UnspecifiedMatching MONDO:0021468 benign neoplasm of adrenal medulla skos:exactMatch icd11.foundation:1573786673 Benign neoplasm of adrenal medulla semapv:UnspecifiedMatching MONDO:0021469 benign neoplasm of anus skos:exactMatch MEDGEN:83864 semapv:UnspecifiedMatching MONDO:0021469 benign neoplasm of anus skos:exactMatch NCIT:C4611 Benign Anal Neoplasm semapv:UnspecifiedMatching MONDO:0021469 benign neoplasm of anus skos:exactMatch SCTID:91978004 semapv:UnspecifiedMatching MONDO:0021469 benign neoplasm of anus skos:exactMatch UMLS:C0347276 semapv:UnspecifiedMatching MONDO:0021470 benign neoplasm of pancreas skos:exactMatch ICD10CM:D13.6 Benign neoplasm of pancreas semapv:UnspecifiedMatching MONDO:0021470 benign neoplasm of pancreas skos:exactMatch MEDGEN:91126 semapv:UnspecifiedMatching MONDO:0021470 benign neoplasm of pancreas skos:exactMatch NCIT:C4612 Benign Pancreatic Neoplasm semapv:UnspecifiedMatching MONDO:0021470 benign neoplasm of pancreas skos:exactMatch SCTID:92264007 semapv:UnspecifiedMatching MONDO:0021470 benign neoplasm of pancreas skos:exactMatch UMLS:C0347284 semapv:UnspecifiedMatching MONDO:0021470 benign neoplasm of pancreas skos:exactMatch icd11.foundation:1870352651 Benign neoplasm of pancreas semapv:UnspecifiedMatching MONDO:0021471 benign neoplasm of endometrium skos:exactMatch MEDGEN:146349 semapv:UnspecifiedMatching MONDO:0021471 benign neoplasm of endometrium skos:exactMatch NCIT:C4894 Benign Endometrial Neoplasm semapv:UnspecifiedMatching MONDO:0021471 benign neoplasm of endometrium skos:exactMatch SCTID:92086004 semapv:UnspecifiedMatching MONDO:0021471 benign neoplasm of endometrium skos:exactMatch UMLS:C0686239 semapv:UnspecifiedMatching MONDO:0021472 benign neoplasm of scrotum skos:exactMatch ICD10CM:D29.4 Benign neoplasm of scrotum semapv:UnspecifiedMatching MONDO:0021472 benign neoplasm of scrotum skos:exactMatch MEDGEN:102302 semapv:UnspecifiedMatching MONDO:0021472 benign neoplasm of scrotum skos:exactMatch NCIT:C3615 Benign Scrotal Neoplasm semapv:UnspecifiedMatching MONDO:0021472 benign neoplasm of scrotum skos:exactMatch SCTID:92336000 semapv:UnspecifiedMatching MONDO:0021472 benign neoplasm of scrotum skos:exactMatch UMLS:C0154011 semapv:UnspecifiedMatching MONDO:0021472 benign neoplasm of scrotum skos:exactMatch icd11.foundation:640770928 Benign neoplasm of scrotum semapv:UnspecifiedMatching MONDO:0021473 benign neoplasm of epididymis skos:exactMatch ICD10CM:D29.3 Benign neoplasm of epididymis semapv:UnspecifiedMatching MONDO:0021473 benign neoplasm of epididymis skos:exactMatch MEDGEN:57578 semapv:UnspecifiedMatching MONDO:0021473 benign neoplasm of epididymis skos:exactMatch NCIT:C3614 Benign Epididymal Neoplasm semapv:UnspecifiedMatching MONDO:0021473 benign neoplasm of epididymis skos:exactMatch SCTID:92088003 semapv:UnspecifiedMatching MONDO:0021473 benign neoplasm of epididymis skos:exactMatch UMLS:C0154010 semapv:UnspecifiedMatching MONDO:0021473 benign neoplasm of epididymis skos:exactMatch icd11.foundation:1440739556 Benign neoplasm of epididymis semapv:UnspecifiedMatching MONDO:0021474 benign neoplasm of ear skos:exactMatch MEDGEN:138081 semapv:UnspecifiedMatching MONDO:0021474 benign neoplasm of ear skos:exactMatch NCIT:C8417 Benign Ear Neoplasm semapv:UnspecifiedMatching MONDO:0021474 benign neoplasm of ear skos:exactMatch SCTID:255181009 semapv:UnspecifiedMatching MONDO:0021474 benign neoplasm of ear skos:exactMatch UMLS:C0347354 semapv:UnspecifiedMatching MONDO:0021475 benign neoplasm of nasal cavity skos:exactMatch MEDGEN:83859 semapv:UnspecifiedMatching MONDO:0021475 benign neoplasm of nasal cavity skos:exactMatch NCIT:C4603 Benign Nasal Cavity Neoplasm semapv:UnspecifiedMatching MONDO:0021475 benign neoplasm of nasal cavity skos:exactMatch SCTID:92241005 semapv:UnspecifiedMatching MONDO:0021475 benign neoplasm of nasal cavity skos:exactMatch UMLS:C0347215 semapv:UnspecifiedMatching MONDO:0021475 benign neoplasm of nasal cavity skos:exactMatch icd11.foundation:44101401 Benign neoplasm of nasal cavity semapv:UnspecifiedMatching MONDO:0021476 benign neoplasm of tongue skos:exactMatch ICD10CM:D10.1 Benign neoplasm of tongue semapv:UnspecifiedMatching MONDO:0021476 benign neoplasm of tongue skos:exactMatch MEDGEN:57573 semapv:UnspecifiedMatching MONDO:0021476 benign neoplasm of tongue skos:exactMatch NCIT:C3592 Benign Tongue Neoplasm semapv:UnspecifiedMatching MONDO:0021476 benign neoplasm of tongue skos:exactMatch SCTID:92443005 semapv:UnspecifiedMatching MONDO:0021476 benign neoplasm of tongue skos:exactMatch UMLS:C0153933 semapv:UnspecifiedMatching MONDO:0021476 benign neoplasm of tongue skos:exactMatch icd11.foundation:487744161 Benign neoplasm of tongue semapv:UnspecifiedMatching MONDO:0021477 benign neoplasm of sphenoidal sinus skos:exactMatch MEDGEN:83387 semapv:UnspecifiedMatching MONDO:0021477 benign neoplasm of sphenoidal sinus skos:exactMatch NCIT:C4422 Benign Sphenoid Sinus Neoplasm semapv:UnspecifiedMatching MONDO:0021477 benign neoplasm of sphenoidal sinus skos:exactMatch SCTID:92404006 semapv:UnspecifiedMatching MONDO:0021477 benign neoplasm of sphenoidal sinus skos:exactMatch UMLS:C0345678 semapv:UnspecifiedMatching MONDO:0021478 benign neoplasm of nasopharynx skos:exactMatch ICD10CM:D10.6 Benign neoplasm of nasopharynx semapv:UnspecifiedMatching MONDO:0021478 benign neoplasm of nasopharynx skos:exactMatch MEDGEN:57574 semapv:UnspecifiedMatching MONDO:0021478 benign neoplasm of nasopharynx skos:exactMatch NCIT:C3595 Benign Nasopharyngeal Neoplasm semapv:UnspecifiedMatching MONDO:0021478 benign neoplasm of nasopharynx skos:exactMatch SCTID:188800003 semapv:UnspecifiedMatching MONDO:0021478 benign neoplasm of nasopharynx skos:exactMatch UMLS:C0153938 semapv:UnspecifiedMatching MONDO:0021478 benign neoplasm of nasopharynx skos:exactMatch icd11.foundation:1862070581 Benign neoplasm of nasopharynx semapv:UnspecifiedMatching MONDO:0021479 benign neoplasm of oropharynx skos:exactMatch MEDGEN:87572 semapv:UnspecifiedMatching MONDO:0021479 benign neoplasm of oropharynx skos:exactMatch NCIT:C4604 Benign Oropharyngeal Neoplasm semapv:UnspecifiedMatching MONDO:0021479 benign neoplasm of oropharynx skos:exactMatch SCTID:92259008 semapv:UnspecifiedMatching MONDO:0021479 benign neoplasm of oropharynx skos:exactMatch UMLS:C0347229 semapv:UnspecifiedMatching MONDO:0021479 benign neoplasm of oropharynx skos:exactMatch icd11.foundation:441557450 Benign neoplasm of oropharynx semapv:UnspecifiedMatching MONDO:0021480 benign neoplasm of soft palate skos:exactMatch MEDGEN:87506 semapv:UnspecifiedMatching MONDO:0021480 benign neoplasm of soft palate skos:exactMatch NCIT:C4404 Benign Soft Palate Neoplasm semapv:UnspecifiedMatching MONDO:0021480 benign neoplasm of soft palate skos:exactMatch SCTID:92386006 semapv:UnspecifiedMatching MONDO:0021480 benign neoplasm of soft palate skos:exactMatch UMLS:C0345557 semapv:UnspecifiedMatching MONDO:0021480 benign neoplasm of soft palate skos:exactMatch icd11.foundation:1613798421 Benign neoplasm of the soft palate semapv:UnspecifiedMatching MONDO:0021481 benign neoplasm of submandibular gland skos:exactMatch MEDGEN:151936 semapv:UnspecifiedMatching MONDO:0021481 benign neoplasm of submandibular gland skos:exactMatch NCIT:C4891 Benign Submandibular Gland Neoplasm semapv:UnspecifiedMatching MONDO:0021481 benign neoplasm of submandibular gland skos:exactMatch SCTID:92415001 semapv:UnspecifiedMatching MONDO:0021481 benign neoplasm of submandibular gland skos:exactMatch UMLS:C0685988 semapv:UnspecifiedMatching MONDO:0021481 benign neoplasm of submandibular gland skos:exactMatch icd11.foundation:564841249 Benign neoplasm of submandibular gland semapv:UnspecifiedMatching MONDO:0021482 benign neoplasm of middle ear skos:exactMatch MEDGEN:91121 semapv:UnspecifiedMatching MONDO:0021482 benign neoplasm of middle ear skos:exactMatch NCIT:C4602 Benign Middle Ear Neoplasm semapv:UnspecifiedMatching MONDO:0021482 benign neoplasm of middle ear skos:exactMatch SCTID:92218002 semapv:UnspecifiedMatching MONDO:0021482 benign neoplasm of middle ear skos:exactMatch UMLS:C0347213 semapv:UnspecifiedMatching MONDO:0021482 benign neoplasm of middle ear skos:exactMatch icd11.foundation:1119231856 Benign neoplasm of middle ear semapv:UnspecifiedMatching MONDO:0021483 benign neoplasm of frontal sinus skos:exactMatch MEDGEN:87510 semapv:UnspecifiedMatching MONDO:0021483 benign neoplasm of frontal sinus skos:exactMatch NCIT:C4420 Benign Frontal Sinus Neoplasm semapv:UnspecifiedMatching MONDO:0021483 benign neoplasm of frontal sinus skos:exactMatch SCTID:92115005 semapv:UnspecifiedMatching MONDO:0021483 benign neoplasm of frontal sinus skos:exactMatch UMLS:C0345674 semapv:UnspecifiedMatching MONDO:0021483 benign neoplasm of frontal sinus skos:exactMatch icd11.foundation:399551439 Benign neoplasm of frontal sinus semapv:UnspecifiedMatching MONDO:0021484 benign neoplasm of maxillary sinus skos:exactMatch MEDGEN:138024 semapv:UnspecifiedMatching MONDO:0021484 benign neoplasm of maxillary sinus skos:exactMatch NCIT:C4414 Benign Maxillary Sinus Neoplasm semapv:UnspecifiedMatching MONDO:0021484 benign neoplasm of maxillary sinus skos:exactMatch SCTID:92211008 semapv:UnspecifiedMatching MONDO:0021484 benign neoplasm of maxillary sinus skos:exactMatch UMLS:C0345666 semapv:UnspecifiedMatching MONDO:0021484 benign neoplasm of maxillary sinus skos:exactMatch icd11.foundation:1738455612 Benign neoplasm of maxillary sinus semapv:UnspecifiedMatching MONDO:0021485 benign neoplasm of iris skos:exactMatch MEDGEN:87560 semapv:UnspecifiedMatching MONDO:0021485 benign neoplasm of iris skos:exactMatch NCIT:C4555 Benign Iris Neoplasm semapv:UnspecifiedMatching MONDO:0021485 benign neoplasm of iris skos:exactMatch SCTID:189151003 semapv:UnspecifiedMatching MONDO:0021485 benign neoplasm of iris skos:exactMatch UMLS:C0346374 semapv:UnspecifiedMatching MONDO:0021485 benign neoplasm of iris skos:exactMatch icd11.foundation:549962833 Benign neoplasm of iris semapv:UnspecifiedMatching MONDO:0021486 benign neoplasm of ciliary body skos:exactMatch ICD10CM:D31.4 Benign neoplasm of ciliary body semapv:UnspecifiedMatching MONDO:0021486 benign neoplasm of ciliary body skos:exactMatch MEDGEN:96927 semapv:UnspecifiedMatching MONDO:0021486 benign neoplasm of ciliary body skos:exactMatch NCIT:C4779 Benign Ciliary Body Neoplasm semapv:UnspecifiedMatching MONDO:0021486 benign neoplasm of ciliary body skos:exactMatch SCTID:92060009 semapv:UnspecifiedMatching MONDO:0021486 benign neoplasm of ciliary body skos:exactMatch UMLS:C0496894 semapv:UnspecifiedMatching MONDO:0021486 benign neoplasm of ciliary body skos:exactMatch icd11.foundation:1138156221 Benign neoplasm of ciliary body semapv:UnspecifiedMatching MONDO:0021487 benign neoplasm of choroid skos:exactMatch ICD10CM:D31.3 Benign neoplasm of choroid semapv:UnspecifiedMatching MONDO:0021487 benign neoplasm of choroid skos:exactMatch MEDGEN:57581 semapv:UnspecifiedMatching MONDO:0021487 benign neoplasm of choroid skos:exactMatch NCIT:C3625 Benign Choroid Neoplasm semapv:UnspecifiedMatching MONDO:0021487 benign neoplasm of choroid skos:exactMatch SCTID:92059004 semapv:UnspecifiedMatching MONDO:0021487 benign neoplasm of choroid skos:exactMatch UMLS:C0154028 semapv:UnspecifiedMatching MONDO:0021487 benign neoplasm of choroid skos:exactMatch icd11.foundation:809005353 Benign neoplasm of choroid semapv:UnspecifiedMatching MONDO:0021488 benign neoplasm of lacrimal gland skos:exactMatch MEDGEN:57813 semapv:UnspecifiedMatching MONDO:0021488 benign neoplasm of lacrimal gland skos:exactMatch NCIT:C3621 Benign Lacrimal Gland Neoplasm semapv:UnspecifiedMatching MONDO:0021488 benign neoplasm of lacrimal gland skos:exactMatch SCTID:92169007 semapv:UnspecifiedMatching MONDO:0021488 benign neoplasm of lacrimal gland skos:exactMatch UMLS:C0154024 semapv:UnspecifiedMatching MONDO:0021488 benign neoplasm of lacrimal gland skos:exactMatch icd11.foundation:1163790602 Benign neoplasm of lacrimal gland semapv:UnspecifiedMatching MONDO:0021489 benign neoplasm of sweat gland skos:exactMatch MEDGEN:146888 semapv:UnspecifiedMatching MONDO:0021489 benign neoplasm of sweat gland skos:exactMatch NCIT:C4879 Benign Sweat Gland Neoplasm semapv:UnspecifiedMatching MONDO:0021489 benign neoplasm of sweat gland skos:exactMatch SCTID:92422009 semapv:UnspecifiedMatching MONDO:0021489 benign neoplasm of sweat gland skos:exactMatch UMLS:C0684354 semapv:UnspecifiedMatching MONDO:0021490 benign neoplasm of sebaceous gland skos:exactMatch MEDGEN:195772 semapv:UnspecifiedMatching MONDO:0021490 benign neoplasm of sebaceous gland skos:exactMatch NCIT:C8525 Benign Sebaceous Gland Neoplasm semapv:UnspecifiedMatching MONDO:0021490 benign neoplasm of sebaceous gland skos:exactMatch SCTID:92337009 semapv:UnspecifiedMatching MONDO:0021490 benign neoplasm of sebaceous gland skos:exactMatch UMLS:C0684358 semapv:UnspecifiedMatching MONDO:0021491 benign neoplasm of gum skos:exactMatch MEDGEN:83856 semapv:UnspecifiedMatching MONDO:0021491 benign neoplasm of gum skos:exactMatch NCIT:C4598 Benign Gingival Neoplasm semapv:UnspecifiedMatching MONDO:0021491 benign neoplasm of gum skos:exactMatch SCTID:92126004 semapv:UnspecifiedMatching MONDO:0021491 benign neoplasm of gum skos:exactMatch UMLS:C0347201 semapv:UnspecifiedMatching MONDO:0021491 benign neoplasm of gum skos:exactMatch icd11.foundation:1593834675 Benign neoplasm of the gum semapv:UnspecifiedMatching MONDO:0021492 benign neoplasm of major salivary gland skos:exactMatch MEDGEN:96923 semapv:UnspecifiedMatching MONDO:0021492 benign neoplasm of major salivary gland skos:exactMatch NCIT:C4771 Benign Major Salivary Gland Neoplasm semapv:UnspecifiedMatching MONDO:0021492 benign neoplasm of major salivary gland skos:exactMatch SCTID:92205005 semapv:UnspecifiedMatching MONDO:0021492 benign neoplasm of major salivary gland skos:exactMatch UMLS:C0496858 semapv:UnspecifiedMatching MONDO:0021493 benign neoplasm of minor salivary gland skos:exactMatch MEDGEN:87508 semapv:UnspecifiedMatching MONDO:0021493 benign neoplasm of minor salivary gland skos:exactMatch NCIT:C4411 Benign Minor Salivary Gland Neoplasm semapv:UnspecifiedMatching MONDO:0021493 benign neoplasm of minor salivary gland skos:exactMatch SCTID:92220004 semapv:UnspecifiedMatching MONDO:0021493 benign neoplasm of minor salivary gland skos:exactMatch UMLS:C0345615 semapv:UnspecifiedMatching MONDO:0021494 benign neoplasm of parotid gland skos:exactMatch ICD10CM:D11.0 Benign neoplasm of parotid gland semapv:UnspecifiedMatching MONDO:0021494 benign neoplasm of parotid gland skos:exactMatch MEDGEN:99220 semapv:UnspecifiedMatching MONDO:0021494 benign neoplasm of parotid gland skos:exactMatch NCIT:C4770 Benign Parotid Gland Neoplasm semapv:UnspecifiedMatching MONDO:0021494 benign neoplasm of parotid gland skos:exactMatch SCTID:92279000 semapv:UnspecifiedMatching MONDO:0021494 benign neoplasm of parotid gland skos:exactMatch UMLS:C0496857 semapv:UnspecifiedMatching MONDO:0021494 benign neoplasm of parotid gland skos:exactMatch icd11.foundation:1688299444 Benign neoplasm of parotid gland semapv:UnspecifiedMatching MONDO:0021495 benign neoplasm of sublingual gland skos:exactMatch MEDGEN:83858 semapv:UnspecifiedMatching MONDO:0021495 benign neoplasm of sublingual gland skos:exactMatch NCIT:C4601 Benign Sublingual Gland Neoplasm semapv:UnspecifiedMatching MONDO:0021495 benign neoplasm of sublingual gland skos:exactMatch SCTID:92413008 semapv:UnspecifiedMatching MONDO:0021495 benign neoplasm of sublingual gland skos:exactMatch UMLS:C0347208 semapv:UnspecifiedMatching MONDO:0021495 benign neoplasm of sublingual gland skos:exactMatch icd11.foundation:1267377894 Benign neoplasm of sublingual gland semapv:UnspecifiedMatching MONDO:0021496 benign neoplasm of lip skos:exactMatch ICD10CM:D10.0 Benign neoplasm of lip semapv:UnspecifiedMatching MONDO:0021496 benign neoplasm of lip skos:exactMatch MEDGEN:102294 semapv:UnspecifiedMatching MONDO:0021496 benign neoplasm of lip skos:exactMatch NCIT:C3591 Benign Lip Neoplasm semapv:UnspecifiedMatching MONDO:0021496 benign neoplasm of lip skos:exactMatch SCTID:92185002 semapv:UnspecifiedMatching MONDO:0021496 benign neoplasm of lip skos:exactMatch UMLS:C0153932 semapv:UnspecifiedMatching MONDO:0021496 benign neoplasm of lip skos:exactMatch icd11.foundation:2019143477 Benign neoplasm of lip semapv:UnspecifiedMatching MONDO:0021497 benign neoplasm of cerebrum skos:exactMatch MEDGEN:195785 semapv:UnspecifiedMatching MONDO:0021497 benign neoplasm of cerebrum skos:exactMatch NCIT:C8548 Benign Cerebral Neoplasm semapv:UnspecifiedMatching MONDO:0021497 benign neoplasm of cerebrum skos:exactMatch SCTID:275269004 semapv:UnspecifiedMatching MONDO:0021497 benign neoplasm of cerebrum skos:exactMatch UMLS:C0686378 semapv:UnspecifiedMatching MONDO:0021497 benign neoplasm of cerebrum skos:exactMatch icd11.foundation:1857115524 Benign neoplasm of cerebrum semapv:UnspecifiedMatching MONDO:0021498 benign neoplasm of placenta skos:exactMatch EFO:1001443 semapv:UnspecifiedMatching MONDO:0021498 benign neoplasm of placenta skos:exactMatch MEDGEN:146350 semapv:UnspecifiedMatching MONDO:0021498 benign neoplasm of placenta skos:exactMatch NCIT:C8545 Benign Placental Neoplasm semapv:UnspecifiedMatching MONDO:0021498 benign neoplasm of placenta skos:exactMatch SCTID:92297008 semapv:UnspecifiedMatching MONDO:0021498 benign neoplasm of placenta skos:exactMatch UMLS:C0686274 semapv:UnspecifiedMatching MONDO:0021498 benign neoplasm of placenta skos:exactMatch icd11.foundation:194589255 Benign neoplasm of placenta semapv:UnspecifiedMatching MONDO:0021499 benign neoplasm of cerebellum skos:exactMatch MEDGEN:196704 semapv:UnspecifiedMatching MONDO:0021499 benign neoplasm of cerebellum skos:exactMatch NCIT:C4955 Benign Cerebellar Neoplasm semapv:UnspecifiedMatching MONDO:0021499 benign neoplasm of cerebellum skos:exactMatch SCTID:92050000 semapv:UnspecifiedMatching MONDO:0021499 benign neoplasm of cerebellum skos:exactMatch UMLS:C0750995 semapv:UnspecifiedMatching MONDO:0021499 benign neoplasm of cerebellum skos:exactMatch icd11.foundation:664460646 Benign neoplasm of cerebellum semapv:UnspecifiedMatching MONDO:0021500 benign neoplasm of spleen skos:exactMatch MEDGEN:146355 semapv:UnspecifiedMatching MONDO:0021500 benign neoplasm of spleen skos:exactMatch NCIT:C4902 Benign Splenic Neoplasm semapv:UnspecifiedMatching MONDO:0021500 benign neoplasm of spleen skos:exactMatch SCTID:92408009 semapv:UnspecifiedMatching MONDO:0021500 benign neoplasm of spleen skos:exactMatch UMLS:C0686615 semapv:UnspecifiedMatching MONDO:0021501 benign neoplasm of small intestine skos:exactMatch MEDGEN:56324 semapv:UnspecifiedMatching MONDO:0021501 benign neoplasm of small intestine skos:exactMatch NCIT:C3600 Benign Small Intestinal Neoplasm semapv:UnspecifiedMatching MONDO:0021501 benign neoplasm of small intestine skos:exactMatch SCTID:92385005 semapv:UnspecifiedMatching MONDO:0021501 benign neoplasm of small intestine skos:exactMatch UMLS:C0153944 semapv:UnspecifiedMatching MONDO:0021503 benign neoplasm of gallbladder skos:exactMatch DOID:0080640 gallbladder benign neoplasm semapv:UnspecifiedMatching MONDO:0021503 benign neoplasm of gallbladder skos:exactMatch MEDGEN:87524 semapv:UnspecifiedMatching MONDO:0021503 benign neoplasm of gallbladder skos:exactMatch NCIT:C4440 Gallbladder Benign Neoplasm semapv:UnspecifiedMatching MONDO:0021503 benign neoplasm of gallbladder skos:exactMatch SCTID:92117002 semapv:UnspecifiedMatching MONDO:0021503 benign neoplasm of gallbladder skos:exactMatch UMLS:C0345912 semapv:UnspecifiedMatching MONDO:0021503 benign neoplasm of gallbladder skos:exactMatch icd11.foundation:1439916526 Benign neoplasm of gallbladder semapv:UnspecifiedMatching MONDO:0021505 benign neoplasm of endocardium skos:exactMatch MEDGEN:83863 semapv:UnspecifiedMatching MONDO:0021505 benign neoplasm of endocardium skos:exactMatch NCIT:C4608 Benign Endocardial Neoplasm semapv:UnspecifiedMatching MONDO:0021505 benign neoplasm of endocardium skos:exactMatch SCTID:92083007 semapv:UnspecifiedMatching MONDO:0021505 benign neoplasm of endocardium skos:exactMatch UMLS:C0347254 semapv:UnspecifiedMatching MONDO:0021505 benign neoplasm of endocardium skos:exactMatch icd11.foundation:1776419379 Benign neoplasm of endocardium semapv:UnspecifiedMatching MONDO:0021506 benign neoplasm of spinal cord skos:exactMatch ICD10CM:D33.4 Benign neoplasm of spinal cord semapv:UnspecifiedMatching MONDO:0021506 benign neoplasm of spinal cord skos:exactMatch MEDGEN:56329 semapv:UnspecifiedMatching MONDO:0021506 benign neoplasm of spinal cord skos:exactMatch NCIT:C3627 Benign Spinal Cord Neoplasm semapv:UnspecifiedMatching MONDO:0021506 benign neoplasm of spinal cord skos:exactMatch SCTID:92405007 semapv:UnspecifiedMatching MONDO:0021506 benign neoplasm of spinal cord skos:exactMatch UMLS:C0154034 semapv:UnspecifiedMatching MONDO:0021506 benign neoplasm of spinal cord skos:exactMatch icd11.foundation:1588169218 Benign neoplasm of spinal cord semapv:UnspecifiedMatching MONDO:0021507 benign neoplasm of brain stem skos:exactMatch MEDGEN:146353 semapv:UnspecifiedMatching MONDO:0021507 benign neoplasm of brain stem skos:exactMatch NCIT:C8549 Benign Brain Stem Neoplasm semapv:UnspecifiedMatching MONDO:0021507 benign neoplasm of brain stem skos:exactMatch SCTID:92029009 semapv:UnspecifiedMatching MONDO:0021507 benign neoplasm of brain stem skos:exactMatch UMLS:C0686400 semapv:UnspecifiedMatching MONDO:0021508 benign neoplasm of epicardium skos:exactMatch MEDGEN:146342 semapv:UnspecifiedMatching MONDO:0021508 benign neoplasm of epicardium skos:exactMatch NCIT:C8535 Benign Epicardial Neoplasm semapv:UnspecifiedMatching MONDO:0021508 benign neoplasm of epicardium skos:exactMatch SCTID:92087008 semapv:UnspecifiedMatching MONDO:0021508 benign neoplasm of epicardium skos:exactMatch UMLS:C0685115 semapv:UnspecifiedMatching MONDO:0021508 benign neoplasm of epicardium skos:exactMatch icd11.foundation:1295571347 Benign neoplasm of epicardium semapv:UnspecifiedMatching MONDO:0021509 benign neoplasm of myocardium skos:exactMatch MEDGEN:83862 semapv:UnspecifiedMatching MONDO:0021509 benign neoplasm of myocardium skos:exactMatch NCIT:C4607 Benign Myocardial Neoplasm semapv:UnspecifiedMatching MONDO:0021509 benign neoplasm of myocardium skos:exactMatch SCTID:92238001 semapv:UnspecifiedMatching MONDO:0021509 benign neoplasm of myocardium skos:exactMatch UMLS:C0347253 semapv:UnspecifiedMatching MONDO:0021509 benign neoplasm of myocardium skos:exactMatch icd11.foundation:2097885721 Benign neoplasm of myocardium semapv:UnspecifiedMatching MONDO:0021510 benign neoplasm of prostate skos:exactMatch ICD10CM:D29.1 Benign neoplasm of prostate semapv:UnspecifiedMatching MONDO:0021510 benign neoplasm of prostate skos:exactMatch MEDGEN:57577 semapv:UnspecifiedMatching MONDO:0021510 benign neoplasm of prostate skos:exactMatch NCIT:C3613 Benign Prostate Neoplasm semapv:UnspecifiedMatching MONDO:0021510 benign neoplasm of prostate skos:exactMatch SCTID:92308005 semapv:UnspecifiedMatching MONDO:0021510 benign neoplasm of prostate skos:exactMatch UMLS:C0154009 semapv:UnspecifiedMatching MONDO:0021510 benign neoplasm of prostate skos:exactMatch icd11.foundation:1144614287 Benign neoplasm of prostate semapv:UnspecifiedMatching MONDO:0021511 benign neoplasm of adrenal gland skos:exactMatch ICD10CM:D35.0 Benign neoplasm of adrenal gland semapv:UnspecifiedMatching MONDO:0021511 benign neoplasm of adrenal gland skos:exactMatch MEDGEN:56330 semapv:UnspecifiedMatching MONDO:0021511 benign neoplasm of adrenal gland skos:exactMatch NCIT:C3629 Benign Adrenal Gland Neoplasm semapv:UnspecifiedMatching MONDO:0021511 benign neoplasm of adrenal gland skos:exactMatch SCTID:91967007 semapv:UnspecifiedMatching MONDO:0021511 benign neoplasm of adrenal gland skos:exactMatch UMLS:C0154040 semapv:UnspecifiedMatching MONDO:0021511 benign neoplasm of adrenal gland skos:exactMatch icd11.foundation:2121003176 Benign neoplasm of adrenal gland semapv:UnspecifiedMatching MONDO:0021512 benign neoplasm of thymus skos:exactMatch ICD10CM:D15.0 Benign neoplasm of thymus semapv:UnspecifiedMatching MONDO:0021512 benign neoplasm of thymus skos:exactMatch MEDGEN:87526 semapv:UnspecifiedMatching MONDO:0021512 benign neoplasm of thymus skos:exactMatch NCIT:C4458 Benign Thymus Neoplasm semapv:UnspecifiedMatching MONDO:0021512 benign neoplasm of thymus skos:exactMatch SCTID:92437008 semapv:UnspecifiedMatching MONDO:0021512 benign neoplasm of thymus skos:exactMatch UMLS:C0345975 semapv:UnspecifiedMatching MONDO:0021512 benign neoplasm of thymus skos:exactMatch icd11.foundation:1583331018 Benign neoplasm of thymus semapv:UnspecifiedMatching MONDO:0021513 benign neoplasm of tonsil skos:exactMatch ICD10CM:D10.4 Benign neoplasm of tonsil semapv:UnspecifiedMatching MONDO:0021513 benign neoplasm of tonsil skos:exactMatch MEDGEN:57804 semapv:UnspecifiedMatching MONDO:0021513 benign neoplasm of tonsil skos:exactMatch NCIT:C3594 Benign Tonsillar Neoplasm semapv:UnspecifiedMatching MONDO:0021513 benign neoplasm of tonsil skos:exactMatch SCTID:92263001 semapv:UnspecifiedMatching MONDO:0021513 benign neoplasm of tonsil skos:exactMatch UMLS:C0153936 semapv:UnspecifiedMatching MONDO:0021513 benign neoplasm of tonsil skos:exactMatch icd11.foundation:2132438112 Benign neoplasm of tonsil semapv:UnspecifiedMatching MONDO:0021514 benign neoplasm of pericardium skos:exactMatch MEDGEN:151928 semapv:UnspecifiedMatching MONDO:0021514 benign neoplasm of pericardium skos:exactMatch NCIT:C8536 Benign Pericardial Neoplasm semapv:UnspecifiedMatching MONDO:0021514 benign neoplasm of pericardium skos:exactMatch SCTID:92289001 semapv:UnspecifiedMatching MONDO:0021514 benign neoplasm of pericardium skos:exactMatch UMLS:C0685118 semapv:UnspecifiedMatching MONDO:0021514 benign neoplasm of pericardium skos:exactMatch icd11.foundation:1296244385 Benign neoplasm of pericardium semapv:UnspecifiedMatching MONDO:0021515 benign neoplasm of ethmoidal sinus skos:exactMatch MEDGEN:91050 semapv:UnspecifiedMatching MONDO:0021515 benign neoplasm of ethmoidal sinus skos:exactMatch NCIT:C4417 Benign Ethmoid Sinus Neoplasm semapv:UnspecifiedMatching MONDO:0021515 benign neoplasm of ethmoidal sinus skos:exactMatch SCTID:92093000 semapv:UnspecifiedMatching MONDO:0021515 benign neoplasm of ethmoidal sinus skos:exactMatch UMLS:C0345670 semapv:UnspecifiedMatching MONDO:0021516 benign neoplasm of glottis skos:exactMatch MEDGEN:91123 semapv:UnspecifiedMatching MONDO:0021516 benign neoplasm of glottis skos:exactMatch NCIT:C4605 Benign Glottis Neoplasm semapv:UnspecifiedMatching MONDO:0021516 benign neoplasm of glottis skos:exactMatch SCTID:92123007 semapv:UnspecifiedMatching MONDO:0021516 benign neoplasm of glottis skos:exactMatch UMLS:C0347234 semapv:UnspecifiedMatching MONDO:0021516 benign neoplasm of glottis skos:exactMatch icd11.foundation:1704448187 Benign neoplasm of glottis semapv:UnspecifiedMatching MONDO:0021517 benign neoplasm of trachea skos:exactMatch ICD10CM:D14.2 Benign neoplasm of trachea semapv:UnspecifiedMatching MONDO:0021517 benign neoplasm of trachea skos:exactMatch MEDGEN:56326 semapv:UnspecifiedMatching MONDO:0021517 benign neoplasm of trachea skos:exactMatch NCIT:C3602 Benign Tracheal Neoplasm semapv:UnspecifiedMatching MONDO:0021517 benign neoplasm of trachea skos:exactMatch SCTID:92446002 semapv:UnspecifiedMatching MONDO:0021517 benign neoplasm of trachea skos:exactMatch UMLS:C0153953 semapv:UnspecifiedMatching MONDO:0021517 benign neoplasm of trachea skos:exactMatch icd11.foundation:1396826912 Benign neoplasm of trachea semapv:UnspecifiedMatching MONDO:0021518 benign neoplasm of hard palate skos:exactMatch MEDGEN:138020 semapv:UnspecifiedMatching MONDO:0021518 benign neoplasm of hard palate skos:exactMatch NCIT:C4403 Benign Hard Palate Neoplasm semapv:UnspecifiedMatching MONDO:0021518 benign neoplasm of hard palate skos:exactMatch SCTID:92129006 semapv:UnspecifiedMatching MONDO:0021518 benign neoplasm of hard palate skos:exactMatch UMLS:C0345552 semapv:UnspecifiedMatching MONDO:0021518 benign neoplasm of hard palate skos:exactMatch icd11.foundation:73566306 Benign neoplasm of the hard palate semapv:UnspecifiedMatching MONDO:0021520 benign neoplasm of floor of mouth skos:exactMatch ICD10CM:D10.2 Benign neoplasm of floor of mouth semapv:UnspecifiedMatching MONDO:0021520 benign neoplasm of floor of mouth skos:exactMatch MEDGEN:102295 semapv:UnspecifiedMatching MONDO:0021520 benign neoplasm of floor of mouth skos:exactMatch NCIT:C3593 Benign Floor of the Mouth Neoplasm semapv:UnspecifiedMatching MONDO:0021520 benign neoplasm of floor of mouth skos:exactMatch SCTID:92109005 semapv:UnspecifiedMatching MONDO:0021520 benign neoplasm of floor of mouth skos:exactMatch UMLS:C0153934 semapv:UnspecifiedMatching MONDO:0021520 benign neoplasm of floor of mouth skos:exactMatch icd11.foundation:1774137950 Benign neoplasm of floor of mouth semapv:UnspecifiedMatching MONDO:0021521 benign neoplasm of mediastinum skos:exactMatch ICD10CM:D15.2 Benign neoplasm of mediastinum semapv:UnspecifiedMatching MONDO:0021521 benign neoplasm of mediastinum skos:exactMatch MEDGEN:102298 semapv:UnspecifiedMatching MONDO:0021521 benign neoplasm of mediastinum skos:exactMatch NCIT:C3604 Benign Mediastinal Neoplasm semapv:UnspecifiedMatching MONDO:0021521 benign neoplasm of mediastinum skos:exactMatch SCTID:92214000 semapv:UnspecifiedMatching MONDO:0021521 benign neoplasm of mediastinum skos:exactMatch UMLS:C0153956 semapv:UnspecifiedMatching MONDO:0021521 benign neoplasm of mediastinum skos:exactMatch icd11.foundation:1337535393 Benign neoplasm of mediastinum semapv:UnspecifiedMatching MONDO:0021522 benign neoplasm of lower jaw bone skos:exactMatch ICD10CM:D16.5 Benign neoplasm of lower jaw bone semapv:UnspecifiedMatching MONDO:0021522 benign neoplasm of lower jaw bone skos:exactMatch MEDGEN:2572 semapv:UnspecifiedMatching MONDO:0021522 benign neoplasm of lower jaw bone skos:exactMatch NCIT:C34417 Benign Mandible Neoplasm semapv:UnspecifiedMatching MONDO:0021522 benign neoplasm of lower jaw bone skos:exactMatch SCTID:92208007 semapv:UnspecifiedMatching MONDO:0021522 benign neoplasm of lower jaw bone skos:exactMatch UMLS:C0004994 semapv:UnspecifiedMatching MONDO:0021523 benign neoplasm of pharynx skos:exactMatch MEDGEN:102296 semapv:UnspecifiedMatching MONDO:0021523 benign neoplasm of pharynx skos:exactMatch NCIT:C3597 Benign Pharyngeal Neoplasm semapv:UnspecifiedMatching MONDO:0021523 benign neoplasm of pharynx skos:exactMatch SCTID:92293007 semapv:UnspecifiedMatching MONDO:0021523 benign neoplasm of pharynx skos:exactMatch UMLS:C0153940 semapv:UnspecifiedMatching MONDO:0021524 benign neoplasm of buccal mucosa skos:exactMatch MEDGEN:91046 semapv:UnspecifiedMatching MONDO:0021524 benign neoplasm of buccal mucosa skos:exactMatch NCIT:C4406 Benign Buccal Mucosa Neoplasm semapv:UnspecifiedMatching MONDO:0021524 benign neoplasm of buccal mucosa skos:exactMatch SCTID:92039003 semapv:UnspecifiedMatching MONDO:0021524 benign neoplasm of buccal mucosa skos:exactMatch UMLS:C0345566 semapv:UnspecifiedMatching MONDO:0021524 benign neoplasm of buccal mucosa skos:exactMatch icd11.foundation:1053814432 Benign neoplasm of buccal mucosa semapv:UnspecifiedMatching MONDO:0021525 benign neoplasm of corpus uteri skos:exactMatch MEDGEN:57808 semapv:UnspecifiedMatching MONDO:0021525 benign neoplasm of corpus uteri skos:exactMatch NCIT:C3608 Benign Uterine Corpus Neoplasm semapv:UnspecifiedMatching MONDO:0021525 benign neoplasm of corpus uteri skos:exactMatch SCTID:92021007 semapv:UnspecifiedMatching MONDO:0021525 benign neoplasm of corpus uteri skos:exactMatch UMLS:C0153998 semapv:UnspecifiedMatching MONDO:0021527 benign neoplasm of meninges skos:exactMatch ICD10CM:D32 Benign neoplasm of meninges semapv:UnspecifiedMatching MONDO:0021527 benign neoplasm of meninges skos:exactMatch ICD10WHO:D32 Benign neoplasm of meninges semapv:UnspecifiedMatching MONDO:0021527 benign neoplasm of meninges skos:exactMatch MEDGEN:138093 semapv:UnspecifiedMatching MONDO:0021527 benign neoplasm of meninges skos:exactMatch SCTID:109913001 semapv:UnspecifiedMatching MONDO:0021527 benign neoplasm of meninges skos:exactMatch UMLS:C0348426 semapv:UnspecifiedMatching MONDO:0021528 benign neoplasm of male breast skos:exactMatch MEDGEN:83867 semapv:UnspecifiedMatching MONDO:0021528 benign neoplasm of male breast skos:exactMatch NCIT:C4620 Benign Male Breast Neoplasm semapv:UnspecifiedMatching MONDO:0021528 benign neoplasm of male breast skos:exactMatch SCTID:92206006 semapv:UnspecifiedMatching MONDO:0021528 benign neoplasm of male breast skos:exactMatch UMLS:C0347482 semapv:UnspecifiedMatching MONDO:0021529 benign neoplasm of chest wall skos:exactMatch MEDGEN:195776 semapv:UnspecifiedMatching MONDO:0021529 benign neoplasm of chest wall skos:exactMatch NCIT:C8529 Benign Chest Wall Neoplasm semapv:UnspecifiedMatching MONDO:0021529 benign neoplasm of chest wall skos:exactMatch SCTID:92058007 semapv:UnspecifiedMatching MONDO:0021529 benign neoplasm of chest wall skos:exactMatch UMLS:C0684831 semapv:UnspecifiedMatching MONDO:0021530 benign neoplasm of subglottis skos:exactMatch MEDGEN:83388 semapv:UnspecifiedMatching MONDO:0021530 benign neoplasm of subglottis skos:exactMatch NCIT:C4427 Benign Subglottis Neoplasm semapv:UnspecifiedMatching MONDO:0021530 benign neoplasm of subglottis skos:exactMatch SCTID:92412003 semapv:UnspecifiedMatching MONDO:0021530 benign neoplasm of subglottis skos:exactMatch UMLS:C0345749 semapv:UnspecifiedMatching MONDO:0021531 fibroma of lung skos:exactMatch MEDGEN:272803 semapv:UnspecifiedMatching MONDO:0021531 fibroma of lung skos:exactMatch NCIT:C5658 Lung Fibroma semapv:UnspecifiedMatching MONDO:0021531 fibroma of lung skos:exactMatch SCTID:707387004 semapv:UnspecifiedMatching MONDO:0021531 fibroma of lung skos:exactMatch UMLS:C1334444 semapv:UnspecifiedMatching MONDO:0021532 fibroma of prostate skos:exactMatch MEDGEN:75709 semapv:UnspecifiedMatching MONDO:0021532 fibroma of prostate skos:exactMatch NCIT:C3972 Prostate Fibroma semapv:UnspecifiedMatching MONDO:0021532 fibroma of prostate skos:exactMatch SCTID:47014000 semapv:UnspecifiedMatching MONDO:0021532 fibroma of prostate skos:exactMatch UMLS:C0268885 semapv:UnspecifiedMatching MONDO:0021533 intestinal neuroendocrine tumor G1 skos:exactMatch MEDGEN:138099 semapv:UnspecifiedMatching MONDO:0021533 intestinal neuroendocrine tumor G1 skos:exactMatch NCIT:C4637 Intestinal Neuroendocrine Tumor G1 semapv:UnspecifiedMatching MONDO:0021533 intestinal neuroendocrine tumor G1 skos:exactMatch OMIM:114900 carcinoid tumors, intestinal semapv:UnspecifiedMatching MONDO:0021533 intestinal neuroendocrine tumor G1 skos:exactMatch SCTID:276816003 semapv:UnspecifiedMatching MONDO:0021533 intestinal neuroendocrine tumor G1 skos:exactMatch UMLS:C0349535 semapv:UnspecifiedMatching MONDO:0021533 intestinal neuroendocrine tumor G1 skos:exactMatch mesh:C562842 semapv:UnspecifiedMatching MONDO:0021534 rectal neuroendocrine tumor G1 skos:exactMatch MEDGEN:233389 semapv:UnspecifiedMatching MONDO:0021534 rectal neuroendocrine tumor G1 skos:exactMatch NCIT:C5547 Rectal Neuroendocrine Tumor G1 semapv:UnspecifiedMatching MONDO:0021534 rectal neuroendocrine tumor G1 skos:exactMatch SCTID:713306000 semapv:UnspecifiedMatching MONDO:0021534 rectal neuroendocrine tumor G1 skos:exactMatch UMLS:C1335678 semapv:UnspecifiedMatching MONDO:0021535 pancreatic neuroendocrine tumor G1 skos:exactMatch MEDGEN:459467 semapv:UnspecifiedMatching MONDO:0021535 pancreatic neuroendocrine tumor G1 skos:exactMatch NCIT:C95584 Pancreatic Neuroendocrine Tumor G1 semapv:UnspecifiedMatching MONDO:0021535 pancreatic neuroendocrine tumor G1 skos:exactMatch SCTID:254613007 semapv:UnspecifiedMatching MONDO:0021535 pancreatic neuroendocrine tumor G1 skos:exactMatch UMLS:C2987241 semapv:UnspecifiedMatching MONDO:0021537 undifferentiated carcinoma of nasopharynx skos:exactMatch MEDGEN:124650 semapv:UnspecifiedMatching MONDO:0021537 undifferentiated carcinoma of nasopharynx skos:exactMatch NCIT:C8023 Nasopharyngeal Undifferentiated Carcinoma semapv:UnspecifiedMatching MONDO:0021537 undifferentiated carcinoma of nasopharynx skos:exactMatch SCTID:422541001 semapv:UnspecifiedMatching MONDO:0021537 undifferentiated carcinoma of nasopharynx skos:exactMatch UMLS:C0279748 semapv:UnspecifiedMatching MONDO:0021537 undifferentiated carcinoma of nasopharynx skos:exactMatch icd11.foundation:584112926 Undifferentiated carcinoma of nasopharynx semapv:UnspecifiedMatching MONDO:0021538 verrucous carcinoma of oral cavity skos:exactMatch MEDGEN:124716 semapv:UnspecifiedMatching MONDO:0021538 verrucous carcinoma of oral cavity skos:exactMatch NCIT:C8174 Oral Cavity Verrucous Carcinoma semapv:UnspecifiedMatching MONDO:0021538 verrucous carcinoma of oral cavity skos:exactMatch SCTID:403889000 semapv:UnspecifiedMatching MONDO:0021538 verrucous carcinoma of oral cavity skos:exactMatch UMLS:C0280306 semapv:UnspecifiedMatching MONDO:0021539 hamartoma of skin appendage skos:exactMatch MEDGEN:224909 semapv:UnspecifiedMatching MONDO:0021539 hamartoma of skin appendage skos:exactMatch NCIT:C5562 Skin Appendage Hamartoma semapv:UnspecifiedMatching MONDO:0021539 hamartoma of skin appendage skos:exactMatch SCTID:399906000 semapv:UnspecifiedMatching MONDO:0021539 hamartoma of skin appendage skos:exactMatch UMLS:C1302712 semapv:UnspecifiedMatching MONDO:0021540 hamartoma of lung skos:exactMatch MEDGEN:101774 semapv:UnspecifiedMatching MONDO:0021540 hamartoma of lung skos:exactMatch NCIT:C3497 Pulmonary Hamartoma semapv:UnspecifiedMatching MONDO:0021540 hamartoma of lung skos:exactMatch SCTID:254644003 semapv:UnspecifiedMatching MONDO:0021540 hamartoma of lung skos:exactMatch UMLS:C0149927 semapv:UnspecifiedMatching MONDO:0021541 hemangioma of retina skos:exactMatch MEDGEN:102307 semapv:UnspecifiedMatching MONDO:0021541 hemangioma of retina skos:exactMatch NCIT:C3634 Retinal Hemangioma semapv:UnspecifiedMatching MONDO:0021541 hemangioma of retina skos:exactMatch SCTID:93470007 semapv:UnspecifiedMatching MONDO:0021541 hemangioma of retina skos:exactMatch UMLS:C0154051 semapv:UnspecifiedMatching MONDO:0021542 hemangioma of choroid skos:exactMatch MEDGEN:83424 semapv:UnspecifiedMatching MONDO:0021542 hemangioma of choroid skos:exactMatch NCIT:C4562 Choroid Hemangioma semapv:UnspecifiedMatching MONDO:0021542 hemangioma of choroid skos:exactMatch SCTID:255022003 semapv:UnspecifiedMatching MONDO:0021542 hemangioma of choroid skos:exactMatch UMLS:C0346390 semapv:UnspecifiedMatching MONDO:0021543 hemangioma of gingiva skos:exactMatch MEDGEN:108426 semapv:UnspecifiedMatching MONDO:0021543 hemangioma of gingiva skos:exactMatch NCIT:C4831 Gingival Hemangioma semapv:UnspecifiedMatching MONDO:0021543 hemangioma of gingiva skos:exactMatch SCTID:304990002 semapv:UnspecifiedMatching MONDO:0021543 hemangioma of gingiva skos:exactMatch UMLS:C0582885 semapv:UnspecifiedMatching MONDO:0021545 myomatous neoplasm skos:exactMatch MEDGEN:76477 semapv:UnspecifiedMatching MONDO:0021545 myomatous neoplasm skos:exactMatch NCIT:C4063 Muscle Neoplasm semapv:UnspecifiedMatching MONDO:0021545 myomatous neoplasm skos:exactMatch UMLS:C0282606 semapv:UnspecifiedMatching MONDO:0021545 myomatous neoplasm skos:exactMatch mesh:D009379 semapv:UnspecifiedMatching MONDO:0021545 myomatous neoplasm skos:exactMatch mesh:D019042 semapv:UnspecifiedMatching MONDO:0021546 ependymal tumor of spinal cord skos:exactMatch MEDGEN:1389203 semapv:UnspecifiedMatching MONDO:0021546 ependymal tumor of spinal cord skos:exactMatch NCIT:C131526 Ependymal Tumor of Spinal Cord semapv:UnspecifiedMatching MONDO:0021546 ependymal tumor of spinal cord skos:exactMatch UMLS:C4318747 semapv:UnspecifiedMatching MONDO:0021547 amelogenesis imperfecta type 3B skos:exactMatch DOID:0080243 amelogenesis imperfecta type 3B semapv:UnspecifiedMatching MONDO:0021547 amelogenesis imperfecta type 3B skos:exactMatch MEDGEN:1621302 semapv:UnspecifiedMatching MONDO:0021547 amelogenesis imperfecta type 3B skos:exactMatch OMIM:617607 amelogenesis imperfecta, type 3b semapv:UnspecifiedMatching MONDO:0021547 amelogenesis imperfecta type 3B skos:exactMatch UMLS:C4539891 semapv:UnspecifiedMatching MONDO:0021548 total early-onset cataract skos:exactMatch MEDGEN:75616 semapv:UnspecifiedMatching MONDO:0021548 total early-onset cataract skos:exactMatch Orphanet:98994 Total early-onset cataract semapv:UnspecifiedMatching MONDO:0021548 total early-onset cataract skos:exactMatch UMLS:C0266539 semapv:UnspecifiedMatching MONDO:0021553 transverse myelitis skos:exactMatch DOID:0080743 transverse myelitis semapv:UnspecifiedMatching MONDO:0021553 transverse myelitis skos:exactMatch MEDGEN:6488 semapv:UnspecifiedMatching MONDO:0021553 transverse myelitis skos:exactMatch SCTID:16631009 semapv:UnspecifiedMatching MONDO:0021553 transverse myelitis skos:exactMatch UMLS:C0026976 semapv:UnspecifiedMatching MONDO:0021553 transverse myelitis skos:exactMatch icd11.foundation:1328350091 Transverse myelitis semapv:UnspecifiedMatching MONDO:0021559 non-autoimmune hemolytic anemia skos:exactMatch EFO:0005558 semapv:UnspecifiedMatching MONDO:0021559 non-autoimmune hemolytic anemia skos:exactMatch MEDGEN:45122 semapv:UnspecifiedMatching MONDO:0021559 non-autoimmune hemolytic anemia skos:exactMatch NCIT:C34853 Non-Autoimmune Hemolytic Anemia semapv:UnspecifiedMatching MONDO:0021559 non-autoimmune hemolytic anemia skos:exactMatch SCTID:191216004 semapv:UnspecifiedMatching MONDO:0021559 non-autoimmune hemolytic anemia skos:exactMatch UMLS:C0028283 semapv:UnspecifiedMatching MONDO:0021562 omphalitis skos:exactMatch MEDGEN:508000 semapv:UnspecifiedMatching MONDO:0021562 omphalitis skos:exactMatch NCIT:C116008 Omphalitis semapv:UnspecifiedMatching MONDO:0021562 omphalitis skos:exactMatch SCTID:239095007 semapv:UnspecifiedMatching MONDO:0021562 omphalitis skos:exactMatch UMLS:C0028992 semapv:UnspecifiedMatching MONDO:0021568 renal tubule disorder skos:exactMatch EFO:0009566 semapv:UnspecifiedMatching MONDO:0021568 renal tubule disorder skos:exactMatch MEDGEN:57484 semapv:UnspecifiedMatching MONDO:0021568 renal tubule disorder skos:exactMatch SCTID:95568003 semapv:UnspecifiedMatching MONDO:0021568 renal tubule disorder skos:exactMatch UMLS:C0151747 semapv:UnspecifiedMatching MONDO:0021569 Emery-Dreifuss muscular dystrophy 2, autosomal dominant skos:exactMatch DOID:0070247 autosomal dominant Emery-Dreifuss muscular dystrophy 2 semapv:UnspecifiedMatching MONDO:0021569 Emery-Dreifuss muscular dystrophy 2, autosomal dominant skos:exactMatch MEDGEN:98048 semapv:UnspecifiedMatching MONDO:0021569 Emery-Dreifuss muscular dystrophy 2, autosomal dominant skos:exactMatch NCIT:C126745 Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant semapv:UnspecifiedMatching MONDO:0021569 Emery-Dreifuss muscular dystrophy 2, autosomal dominant skos:exactMatch OMIM:181350 emery-dreifuss muscular dystrophy 2, autosomal dominant semapv:UnspecifiedMatching MONDO:0021569 Emery-Dreifuss muscular dystrophy 2, autosomal dominant skos:exactMatch SCTID:240072005 semapv:UnspecifiedMatching MONDO:0021569 Emery-Dreifuss muscular dystrophy 2, autosomal dominant skos:exactMatch SCTID:718178006 semapv:UnspecifiedMatching MONDO:0021569 Emery-Dreifuss muscular dystrophy 2, autosomal dominant skos:exactMatch UMLS:C0410190 semapv:UnspecifiedMatching MONDO:0021569 Emery-Dreifuss muscular dystrophy 2, autosomal dominant skos:exactMatch mesh:C535898 semapv:UnspecifiedMatching MONDO:0021571 multiple sclerosis, susceptibility to 1 skos:exactMatch MEDGEN:854774 semapv:UnspecifiedMatching MONDO:0021571 multiple sclerosis, susceptibility to 1 skos:exactMatch OMIM:126200 multiple sclerosis, susceptibility to semapv:UnspecifiedMatching MONDO:0021571 multiple sclerosis, susceptibility to 1 skos:exactMatch UMLS:C3888106 semapv:UnspecifiedMatching MONDO:0021573 oocyte maturation defect 2 skos:exactMatch MEDGEN:903836 semapv:UnspecifiedMatching MONDO:0021573 oocyte maturation defect 2 skos:exactMatch OMIM:616780 oocyte/zygote/embryo maturation arrest 2 semapv:UnspecifiedMatching MONDO:0021573 oocyte maturation defect 2 skos:exactMatch UMLS:C4225210 semapv:UnspecifiedMatching MONDO:0021574 oocyte maturation defect 3 skos:exactMatch MEDGEN:1617317 semapv:UnspecifiedMatching MONDO:0021574 oocyte maturation defect 3 skos:exactMatch OMIM:617712 oocyte/zygote/embryo maturation arrest 3 semapv:UnspecifiedMatching MONDO:0021574 oocyte maturation defect 3 skos:exactMatch UMLS:C4540205 semapv:UnspecifiedMatching MONDO:0021575 oocyte maturation defect 4 skos:exactMatch MEDGEN:1616340 semapv:UnspecifiedMatching MONDO:0021575 oocyte maturation defect 4 skos:exactMatch OMIM:617743 oocyte/zygote/embryo maturation arrest 4 semapv:UnspecifiedMatching MONDO:0021575 oocyte maturation defect 4 skos:exactMatch UMLS:C4540284 semapv:UnspecifiedMatching MONDO:0021576 fallopian tube endometrioid tumor skos:exactMatch MEDGEN:274486 semapv:UnspecifiedMatching MONDO:0021576 fallopian tube endometrioid tumor skos:exactMatch NCIT:C40111 Fallopian Tube Endometrioid Tumor semapv:UnspecifiedMatching MONDO:0021576 fallopian tube endometrioid tumor skos:exactMatch UMLS:C1517113 semapv:UnspecifiedMatching MONDO:0021577 malignant mediastinal neural neoplasm skos:exactMatch MEDGEN:578863 semapv:UnspecifiedMatching MONDO:0021577 malignant mediastinal neural neoplasm skos:exactMatch SCTID:278044006 semapv:UnspecifiedMatching MONDO:0021577 malignant mediastinal neural neoplasm skos:exactMatch UMLS:C0349665 semapv:UnspecifiedMatching MONDO:0021578 sternal neoplasm skos:exactMatch MEDGEN:226935 semapv:UnspecifiedMatching MONDO:0021578 sternal neoplasm skos:exactMatch NCIT:C6730 Sternal Neoplasm semapv:UnspecifiedMatching MONDO:0021578 sternal neoplasm skos:exactMatch SCTID:126559003 semapv:UnspecifiedMatching MONDO:0021578 sternal neoplasm skos:exactMatch UMLS:C1290244 semapv:UnspecifiedMatching MONDO:0021579 neoplasm of femur skos:exactMatch MEDGEN:8809 semapv:UnspecifiedMatching MONDO:0021579 neoplasm of femur skos:exactMatch SCTID:126583006 semapv:UnspecifiedMatching MONDO:0021579 neoplasm of femur skos:exactMatch UMLS:C0015807 semapv:UnspecifiedMatching MONDO:0021580 neoplasm of jaw skos:exactMatch MEDGEN:43991 semapv:UnspecifiedMatching MONDO:0021580 neoplasm of jaw skos:exactMatch SCTID:126634001 semapv:UnspecifiedMatching MONDO:0021580 neoplasm of jaw skos:exactMatch UMLS:C0022364 semapv:UnspecifiedMatching MONDO:0021581 connective tissue neoplasm skos:exactMatch MEDGEN:45035 semapv:UnspecifiedMatching MONDO:0021581 connective tissue neoplasm skos:exactMatch SCTID:126598008 semapv:UnspecifiedMatching MONDO:0021581 connective tissue neoplasm skos:exactMatch UMLS:C0027656 semapv:UnspecifiedMatching MONDO:0021581 connective tissue neoplasm skos:exactMatch mesh:D009372 semapv:UnspecifiedMatching MONDO:0021582 lentigo skos:exactMatch MEDGEN:7301 semapv:UnspecifiedMatching MONDO:0021582 lentigo skos:exactMatch NCIT:C3159 Lentigo semapv:UnspecifiedMatching MONDO:0021582 lentigo skos:exactMatch OMIM:150900 lentigines semapv:UnspecifiedMatching MONDO:0021582 lentigo skos:exactMatch SCTID:402624000 semapv:UnspecifiedMatching MONDO:0021582 lentigo skos:exactMatch UMLS:C0023321 semapv:UnspecifiedMatching MONDO:0021582 lentigo skos:exactMatch mesh:D007911 semapv:UnspecifiedMatching MONDO:0021583 melanocytic skin neoplasm skos:exactMatch MEDGEN:138096 semapv:UnspecifiedMatching MONDO:0021583 melanocytic skin neoplasm skos:exactMatch NCIT:C7161 Cutaneous Melanocytic Neoplasm semapv:UnspecifiedMatching MONDO:0021583 melanocytic skin neoplasm skos:exactMatch UMLS:C0349501 semapv:UnspecifiedMatching MONDO:0021588 eyelid sebaceous gland carcinoma skos:exactMatch MEDGEN:1612781 semapv:UnspecifiedMatching MONDO:0021588 eyelid sebaceous gland carcinoma skos:exactMatch NCIT:C134831 Eyelid Sebaceous Gland Carcinoma semapv:UnspecifiedMatching MONDO:0021588 eyelid sebaceous gland carcinoma skos:exactMatch Orphanet:658590 Eyelid sebaceous carcinoma semapv:UnspecifiedMatching MONDO:0021588 eyelid sebaceous gland carcinoma skos:exactMatch UMLS:C4525405 semapv:UnspecifiedMatching MONDO:0021605 benign eyelid neoplasm skos:exactMatch MEDGEN:137911 semapv:UnspecifiedMatching MONDO:0021605 benign eyelid neoplasm skos:exactMatch NCIT:C4354 Benign Eyelid Neoplasm semapv:UnspecifiedMatching MONDO:0021605 benign eyelid neoplasm skos:exactMatch SCTID:231824001 semapv:UnspecifiedMatching MONDO:0021605 benign eyelid neoplasm skos:exactMatch UMLS:C0339107 semapv:UnspecifiedMatching MONDO:0021607 eyelid seborrheic keratosis skos:exactMatch MEDGEN:137912 semapv:UnspecifiedMatching MONDO:0021607 eyelid seborrheic keratosis skos:exactMatch NCIT:C4356 Eyelid Seborrheic Keratosis semapv:UnspecifiedMatching MONDO:0021607 eyelid seborrheic keratosis skos:exactMatch SCTID:231826004 semapv:UnspecifiedMatching MONDO:0021607 eyelid seborrheic keratosis skos:exactMatch UMLS:C0339109 semapv:UnspecifiedMatching MONDO:0021627 eyelid capillary hemangioma skos:exactMatch MEDGEN:87379 semapv:UnspecifiedMatching MONDO:0021627 eyelid capillary hemangioma skos:exactMatch NCIT:C4357 Eyelid Capillary Hemangioma semapv:UnspecifiedMatching MONDO:0021627 eyelid capillary hemangioma skos:exactMatch SCTID:231828003 semapv:UnspecifiedMatching MONDO:0021627 eyelid capillary hemangioma skos:exactMatch UMLS:C0339110 semapv:UnspecifiedMatching MONDO:0021629 uterine ligament neoplasm skos:exactMatch MEDGEN:276942 semapv:UnspecifiedMatching MONDO:0021629 uterine ligament neoplasm skos:exactMatch NCIT:C40133 Uterine Ligament Neoplasm semapv:UnspecifiedMatching MONDO:0021629 uterine ligament neoplasm skos:exactMatch UMLS:C1519870 semapv:UnspecifiedMatching MONDO:0021630 lipoma of face skos:exactMatch MEDGEN:509492 semapv:UnspecifiedMatching MONDO:0021630 lipoma of face skos:exactMatch SCTID:93159009 semapv:UnspecifiedMatching MONDO:0021630 lipoma of face skos:exactMatch UMLS:C0153968 semapv:UnspecifiedMatching MONDO:0021631 brain astrocytoma skos:exactMatch MEDGEN:811330 semapv:UnspecifiedMatching MONDO:0021631 brain astrocytoma skos:exactMatch NCIT:C60780 Brain Astrocytoma semapv:UnspecifiedMatching MONDO:0021631 brain astrocytoma skos:exactMatch SCTID:254938000 semapv:UnspecifiedMatching MONDO:0021631 brain astrocytoma skos:exactMatch UMLS:C3695127 semapv:UnspecifiedMatching MONDO:0021632 primary brain neoplasm skos:exactMatch MEDGEN:152924 semapv:UnspecifiedMatching MONDO:0021632 primary brain neoplasm skos:exactMatch NCIT:C170814 Primary Brain Neoplasm semapv:UnspecifiedMatching MONDO:0021632 primary brain neoplasm skos:exactMatch NCIT:C4952 Localized Brain Neoplasm semapv:UnspecifiedMatching MONDO:0021632 primary brain neoplasm skos:exactMatch UMLS:C0750974 semapv:UnspecifiedMatching MONDO:0021633 cerebral astrocytoma skos:exactMatch MEDGEN:196691 semapv:UnspecifiedMatching MONDO:0021633 cerebral astrocytoma skos:exactMatch NCIT:C4951 Cerebral Astrocytoma semapv:UnspecifiedMatching MONDO:0021633 cerebral astrocytoma skos:exactMatch SCTID:99131000119108 semapv:UnspecifiedMatching MONDO:0021633 cerebral astrocytoma skos:exactMatch UMLS:C0750935 semapv:UnspecifiedMatching MONDO:0021634 epithelial skin neoplasm skos:exactMatch MEDGEN:91063 semapv:UnspecifiedMatching MONDO:0021634 epithelial skin neoplasm skos:exactMatch NCIT:C7342 Skin Epithelial Neoplasm semapv:UnspecifiedMatching MONDO:0021634 epithelial skin neoplasm skos:exactMatch UMLS:C0345976 semapv:UnspecifiedMatching MONDO:0021636 astrocytic tumor skos:exactMatch DOID:3069 malignant astrocytoma semapv:UnspecifiedMatching MONDO:0021636 astrocytic tumor skos:exactMatch NCIT:C6958 Astrocytic Tumor semapv:UnspecifiedMatching MONDO:0021636 astrocytic tumor skos:exactMatch Orphanet:94 Astrocytoma semapv:UnspecifiedMatching MONDO:0021637 low grade glioma skos:exactMatch DOID:0080829 low grade glioma semapv:UnspecifiedMatching MONDO:0021637 low grade glioma skos:exactMatch MEDGEN:744283 semapv:UnspecifiedMatching MONDO:0021637 low grade glioma skos:exactMatch NCIT:C132067 Low Grade Glioma semapv:UnspecifiedMatching MONDO:0021637 low grade glioma skos:exactMatch UMLS:C1997217 semapv:UnspecifiedMatching MONDO:0021638 low grade astrocytic tumor skos:exactMatch NCIT:C116342 Low Grade Astrocytoma semapv:UnspecifiedMatching MONDO:0021639 grade II glioma skos:exactMatch MEDGEN:1391502 semapv:UnspecifiedMatching MONDO:0021639 grade II glioma skos:exactMatch NCIT:C132505 WHO Grade 2 Glioma semapv:UnspecifiedMatching MONDO:0021639 grade II glioma skos:exactMatch UMLS:C4330050 semapv:UnspecifiedMatching MONDO:0021640 grade III glioma skos:exactMatch MEDGEN:925529 semapv:UnspecifiedMatching MONDO:0021640 grade III glioma skos:exactMatch NCIT:C127816 WHO Grade 3 Glioma semapv:UnspecifiedMatching MONDO:0021640 grade III glioma skos:exactMatch UMLS:C4287997 semapv:UnspecifiedMatching MONDO:0021641 Bunyaviridae infectious disease skos:exactMatch EFO:0007188 semapv:UnspecifiedMatching MONDO:0021641 Bunyaviridae infectious disease skos:exactMatch SCTID:105632002 semapv:UnspecifiedMatching MONDO:0021641 Bunyaviridae infectious disease skos:exactMatch mesh:D002044 semapv:UnspecifiedMatching MONDO:0021642 vulval varices skos:exactMatch ICD10CM:I86.3 Vulval varices semapv:UnspecifiedMatching MONDO:0021642 vulval varices skos:exactMatch MEDGEN:510083 semapv:UnspecifiedMatching MONDO:0021642 vulval varices skos:exactMatch SCTID:48868008 semapv:UnspecifiedMatching MONDO:0021642 vulval varices skos:exactMatch UMLS:C0155796 semapv:UnspecifiedMatching MONDO:0021642 vulval varices skos:exactMatch icd11.foundation:53329171 Vulval varices semapv:UnspecifiedMatching MONDO:0021643 mesenteric varices skos:exactMatch MEDGEN:540965 semapv:UnspecifiedMatching MONDO:0021643 mesenteric varices skos:exactMatch SCTID:22949006 semapv:UnspecifiedMatching MONDO:0021643 mesenteric varices skos:exactMatch UMLS:C0267791 semapv:UnspecifiedMatching MONDO:0021644 esophageal varices without bleeding skos:exactMatch ICD10CM:I85.00 Esophageal varices without bleeding semapv:UnspecifiedMatching MONDO:0021644 esophageal varices without bleeding skos:exactMatch MEDGEN:540382 semapv:UnspecifiedMatching MONDO:0021644 esophageal varices without bleeding skos:exactMatch SCTID:14223005 semapv:UnspecifiedMatching MONDO:0021644 esophageal varices without bleeding skos:exactMatch UMLS:C0267092 semapv:UnspecifiedMatching MONDO:0021645 esophageal varices with bleeding skos:exactMatch ICD10CM:I85.01 Esophageal varices with bleeding semapv:UnspecifiedMatching MONDO:0021645 esophageal varices with bleeding skos:exactMatch ICD10WHO:I85.0 Oesophageal varices with bleeding semapv:UnspecifiedMatching MONDO:0021645 esophageal varices with bleeding skos:exactMatch MEDGEN:57840 semapv:UnspecifiedMatching MONDO:0021645 esophageal varices with bleeding skos:exactMatch SCTID:17709002 semapv:UnspecifiedMatching MONDO:0021645 esophageal varices with bleeding skos:exactMatch UMLS:C0155789 semapv:UnspecifiedMatching MONDO:0021650 uterine corpus neuroendocrine neoplasm skos:exactMatch MEDGEN:925580 semapv:UnspecifiedMatching MONDO:0021650 uterine corpus neuroendocrine neoplasm skos:exactMatch NCIT:C126771 Uterine Corpus Neuroendocrine Neoplasm semapv:UnspecifiedMatching MONDO:0021650 uterine corpus neuroendocrine neoplasm skos:exactMatch UMLS:C4288048 semapv:UnspecifiedMatching MONDO:0021651 synpolydactyly skos:exactMatch MEDGEN:437845 semapv:UnspecifiedMatching MONDO:0021651 synpolydactyly skos:exactMatch NCIT:C75003 Synpolydactyly semapv:UnspecifiedMatching MONDO:0021651 synpolydactyly skos:exactMatch Orphanet:93403 Syndactyly type 2 semapv:UnspecifiedMatching MONDO:0021651 synpolydactyly skos:exactMatch SCTID:715724002 semapv:UnspecifiedMatching MONDO:0021651 synpolydactyly skos:exactMatch SCTID:84598000 semapv:UnspecifiedMatching MONDO:0021651 synpolydactyly skos:exactMatch UMLS:C2699746 semapv:UnspecifiedMatching MONDO:0021651 synpolydactyly skos:exactMatch mesh:C538153 semapv:UnspecifiedMatching MONDO:0021652 diffuse type adenocarcinoma skos:exactMatch MEDGEN:87207 semapv:UnspecifiedMatching MONDO:0021652 diffuse type adenocarcinoma skos:exactMatch NCIT:C4127 Diffuse Type Adenocarcinoma semapv:UnspecifiedMatching MONDO:0021652 diffuse type adenocarcinoma skos:exactMatch UMLS:C0334280 semapv:UnspecifiedMatching MONDO:0021653 cutaneous focal mucinosis skos:exactMatch MEDGEN:590585 semapv:UnspecifiedMatching MONDO:0021653 cutaneous focal mucinosis skos:exactMatch SCTID:110981005 semapv:UnspecifiedMatching MONDO:0021653 cutaneous focal mucinosis skos:exactMatch UMLS:C0406659 semapv:UnspecifiedMatching MONDO:0021654 diffuse cutaneous mucinosis skos:exactMatch MEDGEN:590581 semapv:UnspecifiedMatching MONDO:0021654 diffuse cutaneous mucinosis skos:exactMatch SCTID:238945000 semapv:UnspecifiedMatching MONDO:0021654 diffuse cutaneous mucinosis skos:exactMatch UMLS:C0406655 semapv:UnspecifiedMatching MONDO:0021655 secondary catabolic mucinosis of skin skos:exactMatch MEDGEN:697525 semapv:UnspecifiedMatching MONDO:0021655 secondary catabolic mucinosis of skin skos:exactMatch SCTID:402723003 semapv:UnspecifiedMatching MONDO:0021655 secondary catabolic mucinosis of skin skos:exactMatch UMLS:C1274173 semapv:UnspecifiedMatching MONDO:0021656 nongerminomatous germ cell tumor skos:exactMatch MEDGEN:220426 semapv:UnspecifiedMatching MONDO:0021656 nongerminomatous germ cell tumor skos:exactMatch NCIT:C121619 Nongerminomatous Germ Cell Tumor semapv:UnspecifiedMatching MONDO:0021656 nongerminomatous germ cell tumor skos:exactMatch UMLS:C1266158 semapv:UnspecifiedMatching MONDO:0021657 ovarian sex cord-stromal tumor skos:exactMatch DOID:0080369 ovarian sex-cord stromal tumor semapv:UnspecifiedMatching MONDO:0021657 ovarian sex cord-stromal tumor skos:exactMatch MEDGEN:154644 semapv:UnspecifiedMatching MONDO:0021657 ovarian sex cord-stromal tumor skos:exactMatch NCIT:C4862 Ovarian Sex Cord-Stromal Tumor semapv:UnspecifiedMatching MONDO:0021657 ovarian sex cord-stromal tumor skos:exactMatch UMLS:C0600113 semapv:UnspecifiedMatching MONDO:0021658 vascular ectasia skos:exactMatch MEDGEN:8080 semapv:UnspecifiedMatching MONDO:0021658 vascular ectasia skos:exactMatch NCIT:C45481 Vascular Ectasia semapv:UnspecifiedMatching MONDO:0021658 vascular ectasia skos:exactMatch UMLS:C0002959 semapv:UnspecifiedMatching MONDO:0021659 combined carcinoid and adenocarcinoma skos:exactMatch MEDGEN:83124 semapv:UnspecifiedMatching MONDO:0021659 combined carcinoid and adenocarcinoma skos:exactMatch NCIT:C4139 Combined Carcinoid and Adenocarcinoma semapv:UnspecifiedMatching MONDO:0021659 combined carcinoid and adenocarcinoma skos:exactMatch UMLS:C0334302 semapv:UnspecifiedMatching MONDO:0021659 combined carcinoid and adenocarcinoma skos:exactMatch mesh:C538230 semapv:UnspecifiedMatching MONDO:0021660 deep seated dermatophytosis skos:exactMatch MEDGEN:235599 semapv:UnspecifiedMatching MONDO:0021660 deep seated dermatophytosis skos:exactMatch NCIT:C35073 Deep Seated Dermatophytosis semapv:UnspecifiedMatching MONDO:0021660 deep seated dermatophytosis skos:exactMatch Orphanet:397587 Deep dermatophytosis semapv:UnspecifiedMatching MONDO:0021660 deep seated dermatophytosis skos:exactMatch UMLS:C1395264 semapv:UnspecifiedMatching MONDO:0021661 coronary atherosclerosis skos:exactMatch DOID:0061139 coronary atherosclerosis semapv:UnspecifiedMatching MONDO:0021661 coronary atherosclerosis skos:exactMatch MEDGEN:3623 semapv:UnspecifiedMatching MONDO:0021661 coronary atherosclerosis skos:exactMatch NCIT:C35505 Coronary Atherosclerosis semapv:UnspecifiedMatching MONDO:0021661 coronary atherosclerosis skos:exactMatch SCTID:443502000 semapv:UnspecifiedMatching MONDO:0021661 coronary atherosclerosis skos:exactMatch UMLS:C0010054 semapv:UnspecifiedMatching MONDO:0021661 coronary atherosclerosis skos:exactMatch icd11.foundation:1280712786 Coronary atherosclerosis semapv:UnspecifiedMatching MONDO:0021662 bile duct neoplasm skos:exactMatch MEDGEN:14114 semapv:UnspecifiedMatching MONDO:0021662 bile duct neoplasm skos:exactMatch NCIT:C2898 Bile Duct Neoplasm semapv:UnspecifiedMatching MONDO:0021662 bile duct neoplasm skos:exactMatch UMLS:C0005396 semapv:UnspecifiedMatching MONDO:0021662 bile duct neoplasm skos:exactMatch mesh:D001650 semapv:UnspecifiedMatching MONDO:0021663 sarcomatoid squamous cell carcinoma skos:exactMatch NCIT:C27084 Spindle Cell Squamous Carcinoma semapv:UnspecifiedMatching MONDO:0021663 sarcomatoid squamous cell carcinoma skos:exactMatch SCTID:403900000 semapv:UnspecifiedMatching MONDO:0021666 ear infection skos:exactMatch MEDGEN:147064 semapv:UnspecifiedMatching MONDO:0021666 ear infection skos:exactMatch NCIT:C27193 Ear Infection semapv:UnspecifiedMatching MONDO:0021666 ear infection skos:exactMatch UMLS:C0699744 semapv:UnspecifiedMatching MONDO:0021666 ear infection skos:exactMatch mesh:D010031 semapv:UnspecifiedMatching MONDO:0021667 neuralgia skos:exactMatch EFO:0009430 semapv:UnspecifiedMatching MONDO:0021667 neuralgia skos:exactMatch MEDGEN:18010 semapv:UnspecifiedMatching MONDO:0021667 neuralgia skos:exactMatch SCTID:16269008 semapv:UnspecifiedMatching MONDO:0021667 neuralgia skos:exactMatch UMLS:C0027796 semapv:UnspecifiedMatching MONDO:0021667 neuralgia skos:exactMatch mesh:D009437 semapv:UnspecifiedMatching MONDO:0021668 obsolete disorder involving pain skos:exactMatch DOID:0060164 pain disorder semapv:UnspecifiedMatching MONDO:0021668 obsolete disorder involving pain skos:exactMatch SCTID:373673007 semapv:UnspecifiedMatching MONDO:0021669 post-infectious disorder skos:exactMatch ICD10CM:B90-B94 Sequelae of infectious and parasitic diseases (B90-B94) semapv:UnspecifiedMatching MONDO:0021669 post-infectious disorder skos:exactMatch MEDGEN:688819 semapv:UnspecifiedMatching MONDO:0021669 post-infectious disorder skos:exactMatch SCTID:123976001 semapv:UnspecifiedMatching MONDO:0021669 post-infectious disorder skos:exactMatch UMLS:C1264603 semapv:UnspecifiedMatching MONDO:0021673 post-bacterial disorder skos:exactMatch MEDGEN:928118 semapv:UnspecifiedMatching MONDO:0021673 post-bacterial disorder skos:exactMatch UMLS:C4302449 semapv:UnspecifiedMatching MONDO:0021674 post-viral disorder skos:exactMatch MEDGEN:688821 semapv:UnspecifiedMatching MONDO:0021674 post-viral disorder skos:exactMatch SCTID:123948009 semapv:UnspecifiedMatching MONDO:0021674 post-viral disorder skos:exactMatch UMLS:C1264605 semapv:UnspecifiedMatching MONDO:0021677 post-infectious neuralgia skos:exactMatch MEDGEN:508062 semapv:UnspecifiedMatching MONDO:0021677 post-infectious neuralgia skos:exactMatch SCTID:17111003 semapv:UnspecifiedMatching MONDO:0021677 post-infectious neuralgia skos:exactMatch UMLS:C0032772 semapv:UnspecifiedMatching MONDO:0021678 gram-negative bacterial infections skos:exactMatch MEDGEN:88406 semapv:UnspecifiedMatching MONDO:0021678 gram-negative bacterial infections skos:exactMatch SCTID:371583007 semapv:UnspecifiedMatching MONDO:0021678 gram-negative bacterial infections skos:exactMatch UMLS:C0085423 semapv:UnspecifiedMatching MONDO:0021678 gram-negative bacterial infections skos:exactMatch mesh:D016905 semapv:UnspecifiedMatching MONDO:0021679 gram-positive bacterial infections skos:exactMatch MEDGEN:39283 semapv:UnspecifiedMatching MONDO:0021679 gram-positive bacterial infections skos:exactMatch SCTID:371582002 semapv:UnspecifiedMatching MONDO:0021679 gram-positive bacterial infections skos:exactMatch UMLS:C0085426 semapv:UnspecifiedMatching MONDO:0021679 gram-positive bacterial infections skos:exactMatch mesh:D016908 semapv:UnspecifiedMatching MONDO:0021680 streptococcal infection skos:exactMatch EFO:1001476 semapv:UnspecifiedMatching MONDO:0021680 streptococcal infection skos:exactMatch MEDGEN:20963 semapv:UnspecifiedMatching MONDO:0021680 streptococcal infection skos:exactMatch NCIT:C87062 Streptococcal Infection semapv:UnspecifiedMatching MONDO:0021680 streptococcal infection skos:exactMatch SCTID:85769006 semapv:UnspecifiedMatching MONDO:0021680 streptococcal infection skos:exactMatch UMLS:C0038395 semapv:UnspecifiedMatching MONDO:0021680 streptococcal infection skos:exactMatch mesh:D013290 semapv:UnspecifiedMatching MONDO:0021681 sexually transmitted disease skos:exactMatch ICD10CM:A50-A64 Infections with a predominantly sexual mode of transmission (A50-A64) semapv:UnspecifiedMatching MONDO:0021681 sexually transmitted disease skos:exactMatch MEDGEN:11402 semapv:UnspecifiedMatching MONDO:0021681 sexually transmitted disease skos:exactMatch NCIT:C3365 Sexually Transmitted Disorder semapv:UnspecifiedMatching MONDO:0021681 sexually transmitted disease skos:exactMatch SCTID:8098009 semapv:UnspecifiedMatching MONDO:0021681 sexually transmitted disease skos:exactMatch UMLS:C0036916 semapv:UnspecifiedMatching MONDO:0021681 sexually transmitted disease skos:exactMatch mesh:D012749 semapv:UnspecifiedMatching MONDO:0021682 viral sexually transmitted disease skos:exactMatch MEDGEN:48646 semapv:UnspecifiedMatching MONDO:0021682 viral sexually transmitted disease skos:exactMatch UMLS:C0036918 semapv:UnspecifiedMatching MONDO:0021682 viral sexually transmitted disease skos:exactMatch mesh:D015229 semapv:UnspecifiedMatching MONDO:0021690 obsolete congenital left ventricular aneurysm skos:broadMatch ICD10CM:Q24.8 Other specified congenital malformations of heart semapv:UnspecifiedMatching MONDO:0021690 obsolete congenital left ventricular aneurysm skos:exactMatch Orphanet:1055 Congenital left ventricular aneurysm semapv:UnspecifiedMatching MONDO:0021697 chlamydia infectious disease skos:exactMatch EFO:1000863 semapv:UnspecifiedMatching MONDO:0021697 chlamydia infectious disease skos:exactMatch ICD10CM:A70-A74 Other diseases caused by chlamydiae (A70-A74) semapv:UnspecifiedMatching MONDO:0021697 chlamydia infectious disease skos:exactMatch mesh:D002690 semapv:UnspecifiedMatching MONDO:0021697 chlamydia infectious disease skos:exactMatch mesh:D023521 semapv:UnspecifiedMatching MONDO:0021698 alcohol-related disorders skos:exactMatch MEDGEN:68632 semapv:UnspecifiedMatching MONDO:0021698 alcohol-related disorders skos:exactMatch SCTID:29212009 semapv:UnspecifiedMatching MONDO:0021698 alcohol-related disorders skos:exactMatch UMLS:C0236664 semapv:UnspecifiedMatching MONDO:0021698 alcohol-related disorders skos:exactMatch mesh:D019973 semapv:UnspecifiedMatching MONDO:0021699 alcohol-induced disorders skos:exactMatch MEDGEN:65935 semapv:UnspecifiedMatching MONDO:0021699 alcohol-induced disorders skos:exactMatch SCTID:719848005 semapv:UnspecifiedMatching MONDO:0021699 alcohol-induced disorders skos:exactMatch UMLS:C0236970 semapv:UnspecifiedMatching MONDO:0021699 alcohol-induced disorders skos:exactMatch mesh:D020751 semapv:UnspecifiedMatching MONDO:0021702 alcohol amnestic disorder skos:exactMatch EFO:1001759 semapv:UnspecifiedMatching MONDO:0021702 alcohol amnestic disorder skos:exactMatch MEDGEN:1799 semapv:UnspecifiedMatching MONDO:0021702 alcohol amnestic disorder skos:exactMatch SCTID:73097000 semapv:UnspecifiedMatching MONDO:0021702 alcohol amnestic disorder skos:exactMatch UMLS:C0001940 semapv:UnspecifiedMatching MONDO:0021702 alcohol amnestic disorder skos:exactMatch mesh:D000425 semapv:UnspecifiedMatching MONDO:0021718 polyneuritis skos:exactMatch MEDGEN:46005 semapv:UnspecifiedMatching MONDO:0021718 polyneuritis skos:exactMatch NCIT:C26864 Polyneuritis semapv:UnspecifiedMatching MONDO:0021718 polyneuritis skos:exactMatch SCTID:76886005 semapv:UnspecifiedMatching MONDO:0021718 polyneuritis skos:exactMatch UMLS:C0032541 semapv:UnspecifiedMatching MONDO:0021722 vulvodynia skos:exactMatch ICD10CM:N94.81 Vulvodynia semapv:UnspecifiedMatching MONDO:0021722 vulvodynia skos:exactMatch MEDGEN:96066 semapv:UnspecifiedMatching MONDO:0021722 vulvodynia skos:exactMatch SCTID:238968009 semapv:UnspecifiedMatching MONDO:0021722 vulvodynia skos:exactMatch UMLS:C0406670 semapv:UnspecifiedMatching MONDO:0021722 vulvodynia skos:exactMatch icd11.foundation:1539507119 Vulvodynia semapv:UnspecifiedMatching MONDO:0021722 vulvodynia skos:exactMatch mesh:D056650 semapv:UnspecifiedMatching MONDO:0021723 vaginismus skos:exactMatch ICD10CM:N94.2 Vaginismus semapv:UnspecifiedMatching MONDO:0021723 vaginismus skos:exactMatch MEDGEN:412150 semapv:UnspecifiedMatching MONDO:0021723 vaginismus skos:exactMatch UMLS:C2004487 semapv:UnspecifiedMatching MONDO:0021723 vaginismus skos:exactMatch mesh:D052065 semapv:UnspecifiedMatching MONDO:0021726 abdominal cystic lymphangioma skos:exactMatch MEDGEN:419287 semapv:UnspecifiedMatching MONDO:0021726 abdominal cystic lymphangioma skos:exactMatch NCIT:C27508 Intra-Abdominal Lymphangioma semapv:UnspecifiedMatching MONDO:0021726 abdominal cystic lymphangioma skos:exactMatch UMLS:C2930929 semapv:UnspecifiedMatching MONDO:0021726 abdominal cystic lymphangioma skos:exactMatch mesh:C535553 semapv:UnspecifiedMatching MONDO:0021727 aberrant subclavian artery skos:exactMatch MEDGEN:98134 semapv:UnspecifiedMatching MONDO:0021727 aberrant subclavian artery skos:exactMatch SCTID:93353003 semapv:UnspecifiedMatching MONDO:0021727 aberrant subclavian artery skos:exactMatch UMLS:C0431498 semapv:UnspecifiedMatching MONDO:0021727 aberrant subclavian artery skos:exactMatch mesh:C535555 semapv:UnspecifiedMatching MONDO:0021736 proctosigmoiditis skos:exactMatch MEDGEN:18653 semapv:UnspecifiedMatching MONDO:0021736 proctosigmoiditis skos:exactMatch NCIT:C34950 Proctosigmoiditis semapv:UnspecifiedMatching MONDO:0021736 proctosigmoiditis skos:exactMatch SCTID:41364008 semapv:UnspecifiedMatching MONDO:0021736 proctosigmoiditis skos:exactMatch UMLS:C0033252 semapv:UnspecifiedMatching MONDO:0021739 prurigo skos:exactMatch MEDGEN:10986 semapv:UnspecifiedMatching MONDO:0021739 prurigo skos:exactMatch SCTID:64144002 semapv:UnspecifiedMatching MONDO:0021739 prurigo skos:exactMatch UMLS:C0033771 semapv:UnspecifiedMatching MONDO:0021739 prurigo skos:exactMatch icd11.foundation:268810206 Prurigo semapv:UnspecifiedMatching MONDO:0021739 prurigo skos:exactMatch mesh:D011536 semapv:UnspecifiedMatching MONDO:0021742 puerperal infection skos:exactMatch EFO:1001407 semapv:UnspecifiedMatching MONDO:0021742 puerperal infection skos:exactMatch MEDGEN:11022 semapv:UnspecifiedMatching MONDO:0021742 puerperal infection skos:exactMatch UMLS:C0034041 semapv:UnspecifiedMatching MONDO:0021742 puerperal infection skos:exactMatch mesh:D011645 semapv:UnspecifiedMatching MONDO:0021745 psychosocial short stature skos:exactMatch MEDGEN:1805840 semapv:UnspecifiedMatching MONDO:0021745 psychosocial short stature skos:exactMatch SCTID:39465007 semapv:UnspecifiedMatching MONDO:0021745 psychosocial short stature skos:exactMatch UMLS:C1398540 semapv:UnspecifiedMatching MONDO:0021745 psychosocial short stature skos:exactMatch icd11.foundation:2088216390 Psychosocial short stature semapv:UnspecifiedMatching MONDO:0021745 psychosocial short stature skos:exactMatch mesh:C535569 semapv:UnspecifiedMatching MONDO:0021746 pyelocystitis skos:exactMatch MEDGEN:18778 semapv:UnspecifiedMatching MONDO:0021746 pyelocystitis skos:exactMatch UMLS:C0034184 semapv:UnspecifiedMatching MONDO:0021746 pyelocystitis skos:exactMatch mesh:D053653 semapv:UnspecifiedMatching MONDO:0021747 Acanthamoeba infectious disease skos:exactMatch SCTID:49649001 semapv:UnspecifiedMatching MONDO:0021750 pyonephrosis skos:exactMatch ICD10CM:N13.6 Pyonephrosis semapv:UnspecifiedMatching MONDO:0021750 pyonephrosis skos:exactMatch MEDGEN:11051 semapv:UnspecifiedMatching MONDO:0021750 pyonephrosis skos:exactMatch NCIT:C123032 Pyonephrosis semapv:UnspecifiedMatching MONDO:0021750 pyonephrosis skos:exactMatch SCTID:48631008 semapv:UnspecifiedMatching MONDO:0021750 pyonephrosis skos:exactMatch UMLS:C0034216 semapv:UnspecifiedMatching MONDO:0021750 pyonephrosis skos:exactMatch icd11.foundation:809412333 Pyonephrosis semapv:UnspecifiedMatching MONDO:0021750 pyonephrosis skos:exactMatch mesh:D053018 semapv:UnspecifiedMatching MONDO:0021752 Achard-Thiers syndrome skos:exactMatch MEDGEN:124410 semapv:UnspecifiedMatching MONDO:0021752 Achard-Thiers syndrome skos:exactMatch SCTID:34041001 semapv:UnspecifiedMatching MONDO:0021752 Achard-Thiers syndrome skos:exactMatch UMLS:C0271732 semapv:UnspecifiedMatching MONDO:0021752 Achard-Thiers syndrome skos:exactMatch mesh:C536013 semapv:UnspecifiedMatching MONDO:0021758 acquired agranulocytosis skos:exactMatch MEDGEN:115995 semapv:UnspecifiedMatching MONDO:0021758 acquired agranulocytosis skos:exactMatch SCTID:72050006 semapv:UnspecifiedMatching MONDO:0021758 acquired agranulocytosis skos:exactMatch UMLS:C0235585 semapv:UnspecifiedMatching MONDO:0021758 acquired agranulocytosis skos:exactMatch mesh:C538171 semapv:UnspecifiedMatching MONDO:0021759 acquired fructose intolerance skos:exactMatch MEDGEN:288539 semapv:UnspecifiedMatching MONDO:0021759 acquired fructose intolerance skos:exactMatch SCTID:413427002 semapv:UnspecifiedMatching MONDO:0021759 acquired fructose intolerance skos:exactMatch UMLS:C1531694 semapv:UnspecifiedMatching MONDO:0021765 radiculitis skos:exactMatch MEDGEN:11099 semapv:UnspecifiedMatching MONDO:0021765 radiculitis skos:exactMatch NCIT:C78581 Radiculitis semapv:UnspecifiedMatching MONDO:0021765 radiculitis skos:exactMatch SCTID:82473003 semapv:UnspecifiedMatching MONDO:0021765 radiculitis skos:exactMatch UMLS:C0034544 semapv:UnspecifiedMatching MONDO:0021777 acute rheumatic heart disease skos:exactMatch MEDGEN:19779 semapv:UnspecifiedMatching MONDO:0021777 acute rheumatic heart disease skos:exactMatch NCIT:C34985 Acute Rheumatic Heart Disease semapv:UnspecifiedMatching MONDO:0021777 acute rheumatic heart disease skos:exactMatch SCTID:312591002 semapv:UnspecifiedMatching MONDO:0021777 acute rheumatic heart disease skos:exactMatch UMLS:C0035440 semapv:UnspecifiedMatching MONDO:0021777 acute rheumatic heart disease skos:exactMatch icd11.foundation:535094176 Acute rheumatic fever with heart involvement semapv:UnspecifiedMatching MONDO:0021783 streptococcal sore throat skos:exactMatch ICD10CM:J02.0 Streptococcal pharyngitis semapv:UnspecifiedMatching MONDO:0021783 streptococcal sore throat skos:exactMatch MEDGEN:508129 semapv:UnspecifiedMatching MONDO:0021783 streptococcal sore throat skos:exactMatch NCIT:C116003 Streptococcal Pharyngitis semapv:UnspecifiedMatching MONDO:0021783 streptococcal sore throat skos:exactMatch SCTID:43878008 semapv:UnspecifiedMatching MONDO:0021783 streptococcal sore throat skos:exactMatch UMLS:C0036689 semapv:UnspecifiedMatching MONDO:0021804 silicotuberculosis skos:exactMatch MEDGEN:11426 semapv:UnspecifiedMatching MONDO:0021804 silicotuberculosis skos:exactMatch SCTID:233763009 semapv:UnspecifiedMatching MONDO:0021804 silicotuberculosis skos:exactMatch UMLS:C0037118 semapv:UnspecifiedMatching MONDO:0021804 silicotuberculosis skos:exactMatch mesh:D012830 semapv:UnspecifiedMatching MONDO:0021805 acromesomelic dysplasia, Campailla Martinelli type skos:exactMatch MEDGEN:418955 semapv:UnspecifiedMatching MONDO:0021805 acromesomelic dysplasia, Campailla Martinelli type skos:exactMatch UMLS:C2930969 semapv:UnspecifiedMatching MONDO:0021805 acromesomelic dysplasia, Campailla Martinelli type skos:exactMatch mesh:C535659 semapv:UnspecifiedMatching MONDO:0021808 acute cholinergic dysautonomia skos:exactMatch MEDGEN:419684 semapv:UnspecifiedMatching MONDO:0021808 acute cholinergic dysautonomia skos:exactMatch UMLS:C2930973 semapv:UnspecifiedMatching MONDO:0021808 acute cholinergic dysautonomia skos:exactMatch mesh:C535672 semapv:UnspecifiedMatching MONDO:0021809 primary dysautonomia skos:exactMatch mesh:D054969 semapv:UnspecifiedMatching MONDO:0021811 acute mountain sickness skos:exactMatch MEDGEN:536790 semapv:UnspecifiedMatching MONDO:0021811 acute mountain sickness skos:exactMatch SCTID:78590007 semapv:UnspecifiedMatching MONDO:0021811 acute mountain sickness skos:exactMatch UMLS:C0238284 semapv:UnspecifiedMatching MONDO:0021812 adnexal spiradenoma/cylindroma of a sweat gland skos:exactMatch NCIT:C27094 Cylindroma semapv:UnspecifiedMatching MONDO:0021812 adnexal spiradenoma/cylindroma of a sweat gland skos:exactMatch SCTID:274903001 semapv:UnspecifiedMatching MONDO:0021826 aerobic Actinomyces infection skos:exactMatch MEDGEN:419478 semapv:UnspecifiedMatching MONDO:0021826 aerobic Actinomyces infection skos:exactMatch UMLS:C2931717 semapv:UnspecifiedMatching MONDO:0021826 aerobic Actinomyces infection skos:exactMatch mesh:C538054 semapv:UnspecifiedMatching MONDO:0021829 agnathia-microstomia-synotia skos:exactMatch MEDGEN:419145 semapv:UnspecifiedMatching MONDO:0021829 agnathia-microstomia-synotia skos:exactMatch UMLS:C2931718 semapv:UnspecifiedMatching MONDO:0021829 agnathia-microstomia-synotia skos:exactMatch mesh:C538059 semapv:UnspecifiedMatching MONDO:0021834 Akaba Hayasaka syndrome skos:exactMatch MEDGEN:443940 semapv:UnspecifiedMatching MONDO:0021834 Akaba Hayasaka syndrome skos:exactMatch UMLS:C2930948 semapv:UnspecifiedMatching MONDO:0021834 Akaba Hayasaka syndrome skos:exactMatch mesh:C535609 semapv:UnspecifiedMatching MONDO:0021836 Aksu von Stockhausen syndrome skos:exactMatch MEDGEN:419676 semapv:UnspecifiedMatching MONDO:0021836 Aksu von Stockhausen syndrome skos:exactMatch UMLS:C2930949 semapv:UnspecifiedMatching MONDO:0021836 Aksu von Stockhausen syndrome skos:exactMatch mesh:C535611 semapv:UnspecifiedMatching MONDO:0021838 Al Gazali Khidr Prem Chandran syndrome skos:exactMatch MEDGEN:419678 semapv:UnspecifiedMatching MONDO:0021838 Al Gazali Khidr Prem Chandran syndrome skos:exactMatch UMLS:C2930951 semapv:UnspecifiedMatching MONDO:0021838 Al Gazali Khidr Prem Chandran syndrome skos:exactMatch mesh:C535616 semapv:UnspecifiedMatching MONDO:0021839 spirochaetales infections skos:exactMatch EFO:0009567 semapv:UnspecifiedMatching MONDO:0021839 spirochaetales infections skos:exactMatch MEDGEN:11556 semapv:UnspecifiedMatching MONDO:0021839 spirochaetales infections skos:exactMatch UMLS:C0037974 semapv:UnspecifiedMatching MONDO:0021839 spirochaetales infections skos:exactMatch mesh:D013145 semapv:UnspecifiedMatching MONDO:0021845 Aloi Tomasini Isaia syndrome skos:exactMatch MEDGEN:419073 semapv:UnspecifiedMatching MONDO:0021845 Aloi Tomasini Isaia syndrome skos:exactMatch UMLS:C2931405 semapv:UnspecifiedMatching MONDO:0021845 Aloi Tomasini Isaia syndrome skos:exactMatch mesh:C537049 semapv:UnspecifiedMatching MONDO:0021851 alopecia universalis onychodystrophy vitiligo skos:exactMatch MEDGEN:444049 semapv:UnspecifiedMatching MONDO:0021851 alopecia universalis onychodystrophy vitiligo skos:exactMatch UMLS:C2931408 semapv:UnspecifiedMatching MONDO:0021851 alopecia universalis onychodystrophy vitiligo skos:exactMatch mesh:C537056 semapv:UnspecifiedMatching MONDO:0021856 Alsing syndrome skos:exactMatch MEDGEN:444013 semapv:UnspecifiedMatching MONDO:0021856 Alsing syndrome skos:exactMatch UMLS:C2931255 semapv:UnspecifiedMatching MONDO:0021856 Alsing syndrome skos:exactMatch mesh:C536588 semapv:UnspecifiedMatching MONDO:0021879 small cell variant anaplastic large cell lymphoma skos:exactMatch MEDGEN:234787 semapv:UnspecifiedMatching MONDO:0021879 small cell variant anaplastic large cell lymphoma skos:exactMatch NCIT:C7208 Small Cell Variant Anaplastic Large Cell Lymphoma semapv:UnspecifiedMatching MONDO:0021879 small cell variant anaplastic large cell lymphoma skos:exactMatch UMLS:C1335983 semapv:UnspecifiedMatching MONDO:0021879 small cell variant anaplastic large cell lymphoma skos:exactMatch mesh:C538255 semapv:UnspecifiedMatching MONDO:0021895 temporomandibular joint dysfunction syndrome skos:exactMatch MEDGEN:21093 semapv:UnspecifiedMatching MONDO:0021895 temporomandibular joint dysfunction syndrome skos:exactMatch NCIT:C35066 Temporomandibular Joint Dysfunction Syndrome semapv:UnspecifiedMatching MONDO:0021895 temporomandibular joint dysfunction syndrome skos:exactMatch UMLS:C0039496 semapv:UnspecifiedMatching MONDO:0021895 temporomandibular joint dysfunction syndrome skos:exactMatch mesh:D013706 semapv:UnspecifiedMatching MONDO:0021896 anterior spinal artery stroke skos:exactMatch MEDGEN:419851 semapv:UnspecifiedMatching MONDO:0021896 anterior spinal artery stroke skos:exactMatch UMLS:C2931608 semapv:UnspecifiedMatching MONDO:0021896 anterior spinal artery stroke skos:exactMatch mesh:C537776 semapv:UnspecifiedMatching MONDO:0021902 aortopulmonary window skos:exactMatch ICD10CM:Q21.4 Aortopulmonary septal defect semapv:UnspecifiedMatching MONDO:0021902 aortopulmonary window skos:exactMatch MEDGEN:365 semapv:UnspecifiedMatching MONDO:0021902 aortopulmonary window skos:exactMatch NCIT:C101050 Aortopulmonary Window semapv:UnspecifiedMatching MONDO:0021902 aortopulmonary window skos:exactMatch SCTID:17024001 semapv:UnspecifiedMatching MONDO:0021902 aortopulmonary window skos:exactMatch UMLS:C0003516 semapv:UnspecifiedMatching MONDO:0021902 aortopulmonary window skos:exactMatch mesh:D001028 semapv:UnspecifiedMatching MONDO:0021913 aquagenic pruritus skos:exactMatch MEDGEN:98026 semapv:UnspecifiedMatching MONDO:0021913 aquagenic pruritus skos:exactMatch SCTID:238695001 semapv:UnspecifiedMatching MONDO:0021913 aquagenic pruritus skos:exactMatch UMLS:C0406409 semapv:UnspecifiedMatching MONDO:0021913 aquagenic pruritus skos:exactMatch icd11.foundation:1090223712 Aquagenic pruritus semapv:UnspecifiedMatching MONDO:0021915 arakawa syndrome 2 skos:exactMatch MEDGEN:75697 semapv:UnspecifiedMatching MONDO:0021915 arakawa syndrome 2 skos:exactMatch NCIT:C99081 Arakawa Syndrome II semapv:UnspecifiedMatching MONDO:0021915 arakawa syndrome 2 skos:exactMatch SCTID:89579000 semapv:UnspecifiedMatching MONDO:0021915 arakawa syndrome 2 skos:exactMatch UMLS:C0268611 semapv:UnspecifiedMatching MONDO:0021915 arakawa syndrome 2 skos:exactMatch mesh:C537426 semapv:UnspecifiedMatching MONDO:0021918 arena syndrome skos:exactMatch MEDGEN:444068 semapv:UnspecifiedMatching MONDO:0021918 arena syndrome skos:exactMatch UMLS:C2931491 semapv:UnspecifiedMatching MONDO:0021918 arena syndrome skos:exactMatch mesh:C537428 semapv:UnspecifiedMatching MONDO:0021921 Arnold stickler bourne syndrome skos:exactMatch MEDGEN:419426 semapv:UnspecifiedMatching MONDO:0021921 Arnold stickler bourne syndrome skos:exactMatch UMLS:C2931492 semapv:UnspecifiedMatching MONDO:0021921 Arnold stickler bourne syndrome skos:exactMatch mesh:C537431 semapv:UnspecifiedMatching MONDO:0021923 Arroyo Garcia Cimadevilla syndrome skos:exactMatch MEDGEN:419817 semapv:UnspecifiedMatching MONDO:0021923 Arroyo Garcia Cimadevilla syndrome skos:exactMatch UMLS:C2931494 semapv:UnspecifiedMatching MONDO:0021923 Arroyo Garcia Cimadevilla syndrome skos:exactMatch mesh:C537439 semapv:UnspecifiedMatching MONDO:0021925 tracheobronchitis skos:exactMatch MEDGEN:508208 semapv:UnspecifiedMatching MONDO:0021925 tracheobronchitis skos:exactMatch NCIT:C122784 Tracheobronchitis semapv:UnspecifiedMatching MONDO:0021925 tracheobronchitis skos:exactMatch SCTID:13617004 semapv:UnspecifiedMatching MONDO:0021925 tracheobronchitis skos:exactMatch UMLS:C0040586 semapv:UnspecifiedMatching MONDO:0021925 tracheobronchitis skos:exactMatch icd11.foundation:1889351414 Tracheobronchitis semapv:UnspecifiedMatching MONDO:0021927 obsolete arthrogryposis epileptic seizures migrational brain disorder skos:exactMatch mesh:C537442 semapv:UnspecifiedMatching MONDO:0021929 traumatic myositis ossificans skos:exactMatch MEDGEN:11895 semapv:UnspecifiedMatching MONDO:0021929 traumatic myositis ossificans skos:exactMatch NCIT:C35081 Traumatic Myositis Ossificans semapv:UnspecifiedMatching MONDO:0021929 traumatic myositis ossificans skos:exactMatch SCTID:70917000 semapv:UnspecifiedMatching MONDO:0021929 traumatic myositis ossificans skos:exactMatch UMLS:C0040798 semapv:UnspecifiedMatching MONDO:0021932 infection by Trypanosoma gambiense skos:exactMatch MEDGEN:11933 semapv:UnspecifiedMatching MONDO:0021932 infection by Trypanosoma gambiense skos:exactMatch NCIT:C35084 Gambian Trypanosomiasis semapv:UnspecifiedMatching MONDO:0021932 infection by Trypanosoma gambiense skos:exactMatch SCTID:75809006 semapv:UnspecifiedMatching MONDO:0021932 infection by Trypanosoma gambiense skos:exactMatch UMLS:C0041232 semapv:UnspecifiedMatching MONDO:0021935 aspergillus niger infection skos:exactMatch MEDGEN:82916 semapv:UnspecifiedMatching MONDO:0021935 aspergillus niger infection skos:exactMatch UMLS:C0276657 semapv:UnspecifiedMatching MONDO:0021935 aspergillus niger infection skos:exactMatch mesh:C535390 semapv:UnspecifiedMatching MONDO:0021941 infection by Trypanosoma rhodesiense skos:exactMatch MEDGEN:11934 semapv:UnspecifiedMatching MONDO:0021941 infection by Trypanosoma rhodesiense skos:exactMatch NCIT:C35085 Rhodesian Trypanosomiasis semapv:UnspecifiedMatching MONDO:0021941 infection by Trypanosoma rhodesiense skos:exactMatch SCTID:42872003 semapv:UnspecifiedMatching MONDO:0021941 infection by Trypanosoma rhodesiense skos:exactMatch UMLS:C0041233 semapv:UnspecifiedMatching MONDO:0021943 tuberculoma skos:exactMatch MEDGEN:52881 semapv:UnspecifiedMatching MONDO:0021943 tuberculoma skos:exactMatch SCTID:15202009 semapv:UnspecifiedMatching MONDO:0021943 tuberculoma skos:exactMatch UMLS:C0041295 semapv:UnspecifiedMatching MONDO:0021943 tuberculoma skos:exactMatch mesh:D014375 semapv:UnspecifiedMatching MONDO:0021944 auditory neuropathy skos:exactMatch MEDGEN:338895 semapv:UnspecifiedMatching MONDO:0021944 auditory neuropathy skos:exactMatch NCIT:C116364 Auditory Neuropathy Spectrum Disorder semapv:UnspecifiedMatching MONDO:0021944 auditory neuropathy skos:exactMatch OMIMPS:609129 Auditory neuropathy semapv:UnspecifiedMatching MONDO:0021944 auditory neuropathy skos:exactMatch SCTID:443805006 semapv:UnspecifiedMatching MONDO:0021944 auditory neuropathy skos:exactMatch UMLS:C1852271 semapv:UnspecifiedMatching MONDO:0021944 auditory neuropathy skos:exactMatch mesh:C538268 semapv:UnspecifiedMatching MONDO:0021945 hearing disorder skos:exactMatch MEDGEN:82636 semapv:UnspecifiedMatching MONDO:0021945 hearing disorder skos:exactMatch NCIT:C3078 Hearing Disorder semapv:UnspecifiedMatching MONDO:0021945 hearing disorder skos:exactMatch SCTID:128540005 semapv:UnspecifiedMatching MONDO:0021945 hearing disorder skos:exactMatch UMLS:C0260662 semapv:UnspecifiedMatching MONDO:0021945 hearing disorder skos:exactMatch mesh:D006311 semapv:UnspecifiedMatching MONDO:0021948 cutaneous tuberculosis skos:exactMatch MEDGEN:22515 semapv:UnspecifiedMatching MONDO:0021948 cutaneous tuberculosis skos:exactMatch SCTID:66986005 semapv:UnspecifiedMatching MONDO:0021948 cutaneous tuberculosis skos:exactMatch UMLS:C0041309 semapv:UnspecifiedMatching MONDO:0021948 cutaneous tuberculosis skos:exactMatch icd11.foundation:625292625 Cutaneous tuberculosis semapv:UnspecifiedMatching MONDO:0021950 autoimmune oophoritis skos:exactMatch MEDGEN:163900 semapv:UnspecifiedMatching MONDO:0021950 autoimmune oophoritis skos:exactMatch UMLS:C0878654 semapv:UnspecifiedMatching MONDO:0021950 autoimmune oophoritis skos:exactMatch mesh:C538274 semapv:UnspecifiedMatching MONDO:0021952 progestogen hypersensitivity skos:exactMatch MEDGEN:220359 semapv:UnspecifiedMatching MONDO:0021952 progestogen hypersensitivity skos:exactMatch SCTID:400009001 semapv:UnspecifiedMatching MONDO:0021952 progestogen hypersensitivity skos:exactMatch UMLS:C1260879 semapv:UnspecifiedMatching MONDO:0021952 progestogen hypersensitivity skos:exactMatch mesh:C535299 semapv:UnspecifiedMatching MONDO:0021953 tuberculous fibrosis of lung skos:exactMatch MEDGEN:21729 semapv:UnspecifiedMatching MONDO:0021953 tuberculous fibrosis of lung skos:exactMatch NCIT:C35088 Tuberculous Fibrosis of Lung semapv:UnspecifiedMatching MONDO:0021953 tuberculous fibrosis of lung skos:exactMatch SCTID:90117007 semapv:UnspecifiedMatching MONDO:0021953 tuberculous fibrosis of lung skos:exactMatch UMLS:C0041336 semapv:UnspecifiedMatching MONDO:0021957 autosomal recessive nonsyndromic congenital nuclear cataract skos:exactMatch MEDGEN:419085 semapv:UnspecifiedMatching MONDO:0021957 autosomal recessive nonsyndromic congenital nuclear cataract skos:exactMatch UMLS:C2931470 semapv:UnspecifiedMatching MONDO:0021957 autosomal recessive nonsyndromic congenital nuclear cataract skos:exactMatch mesh:C537298 semapv:UnspecifiedMatching MONDO:0021960 ureteritis skos:exactMatch MEDGEN:21777 semapv:UnspecifiedMatching MONDO:0021960 ureteritis skos:exactMatch NCIT:C78666 Ureteritis semapv:UnspecifiedMatching MONDO:0021960 ureteritis skos:exactMatch SCTID:111405003 semapv:UnspecifiedMatching MONDO:0021960 ureteritis skos:exactMatch UMLS:C0041959 semapv:UnspecifiedMatching MONDO:0021960 ureteritis skos:exactMatch icd11.foundation:817532938 Ureteritis semapv:UnspecifiedMatching MONDO:0021962 baetz-greenwalt syndrome skos:exactMatch MEDGEN:444099 semapv:UnspecifiedMatching MONDO:0021962 baetz-greenwalt syndrome skos:exactMatch UMLS:C2931615 semapv:UnspecifiedMatching MONDO:0021962 baetz-greenwalt syndrome skos:exactMatch mesh:C537795 semapv:UnspecifiedMatching MONDO:0021964 bagatelle Cassidy syndrome skos:exactMatch MEDGEN:444100 semapv:UnspecifiedMatching MONDO:0021964 bagatelle Cassidy syndrome skos:exactMatch UMLS:C2931616 semapv:UnspecifiedMatching MONDO:0021964 bagatelle Cassidy syndrome skos:exactMatch mesh:C537796 semapv:UnspecifiedMatching MONDO:0021966 baker Vinters syndrome skos:exactMatch MEDGEN:419861 semapv:UnspecifiedMatching MONDO:0021966 baker Vinters syndrome skos:exactMatch UMLS:C2931659 semapv:UnspecifiedMatching MONDO:0021966 baker Vinters syndrome skos:exactMatch mesh:C537899 semapv:UnspecifiedMatching MONDO:0021977 basaloid follicular hamartoma skos:exactMatch MEDGEN:96887 semapv:UnspecifiedMatching MONDO:0021977 basaloid follicular hamartoma skos:exactMatch NCIT:C4749 Basal Cell Nevus with Comedones semapv:UnspecifiedMatching MONDO:0021977 basaloid follicular hamartoma skos:exactMatch SCTID:254705003 semapv:UnspecifiedMatching MONDO:0021977 basaloid follicular hamartoma skos:exactMatch UMLS:C0474964 semapv:UnspecifiedMatching MONDO:0021977 basaloid follicular hamartoma skos:exactMatch icd11.foundation:648125144 Basaloid follicular hamartoma semapv:UnspecifiedMatching MONDO:0021979 Basaran Yilmaz syndrome skos:exactMatch MEDGEN:419444 semapv:UnspecifiedMatching MONDO:0021979 Basaran Yilmaz syndrome skos:exactMatch UMLS:C2931577 semapv:UnspecifiedMatching MONDO:0021979 Basaran Yilmaz syndrome skos:exactMatch mesh:C537660 semapv:UnspecifiedMatching MONDO:0021994 Berk-Tabatznik syndrome skos:exactMatch MEDGEN:443928 semapv:UnspecifiedMatching MONDO:0021994 Berk-Tabatznik syndrome skos:exactMatch UMLS:C2930899 semapv:UnspecifiedMatching MONDO:0021994 Berk-Tabatznik syndrome skos:exactMatch mesh:C535432 semapv:UnspecifiedMatching MONDO:0022007 water intoxication skos:exactMatch MEDGEN:53061 semapv:UnspecifiedMatching MONDO:0022007 water intoxication skos:exactMatch SCTID:71785001 semapv:UnspecifiedMatching MONDO:0022007 water intoxication skos:exactMatch UMLS:C0043049 semapv:UnspecifiedMatching MONDO:0022007 water intoxication skos:exactMatch mesh:D014869 semapv:UnspecifiedMatching MONDO:0022011 bobble-head doll syndrome skos:exactMatch MEDGEN:443985 semapv:UnspecifiedMatching MONDO:0022011 bobble-head doll syndrome skos:exactMatch UMLS:C2931137 semapv:UnspecifiedMatching MONDO:0022011 bobble-head doll syndrome skos:exactMatch mesh:C536241 semapv:UnspecifiedMatching MONDO:0022013 Boerhaave syndrome skos:exactMatch MEDGEN:65948 semapv:UnspecifiedMatching MONDO:0022013 Boerhaave syndrome skos:exactMatch SCTID:19995004 semapv:UnspecifiedMatching MONDO:0022013 Boerhaave syndrome skos:exactMatch UMLS:C0238115 semapv:UnspecifiedMatching MONDO:0022013 Boerhaave syndrome skos:exactMatch mesh:C536571 semapv:UnspecifiedMatching MONDO:0022020 Boudhina Yedes Khiari syndrome skos:exactMatch MEDGEN:419467 semapv:UnspecifiedMatching MONDO:0022020 Boudhina Yedes Khiari syndrome skos:exactMatch UMLS:C2931668 semapv:UnspecifiedMatching MONDO:0022020 Boudhina Yedes Khiari syndrome skos:exactMatch mesh:C537939 semapv:UnspecifiedMatching MONDO:0022022 bowenoid papulosis skos:exactMatch MEDGEN:137721 semapv:UnspecifiedMatching MONDO:0022022 bowenoid papulosis skos:exactMatch NCIT:C8374 Bowenoid Papulosis semapv:UnspecifiedMatching MONDO:0022022 bowenoid papulosis skos:exactMatch SCTID:402913004 semapv:UnspecifiedMatching MONDO:0022022 bowenoid papulosis skos:exactMatch UMLS:C0334106 semapv:UnspecifiedMatching MONDO:0022025 boylan dew greco syndrome skos:exactMatch MEDGEN:419407 semapv:UnspecifiedMatching MONDO:0022025 boylan dew greco syndrome skos:exactMatch UMLS:C2931419 semapv:UnspecifiedMatching MONDO:0022025 boylan dew greco syndrome skos:exactMatch mesh:C537083 semapv:UnspecifiedMatching MONDO:0022034 lentivirus infection skos:exactMatch EFO:1001357 semapv:UnspecifiedMatching MONDO:0022034 lentivirus infection skos:exactMatch MEDGEN:38233 semapv:UnspecifiedMatching MONDO:0022034 lentivirus infection skos:exactMatch UMLS:C0079680 semapv:UnspecifiedMatching MONDO:0022034 lentivirus infection skos:exactMatch mesh:D016180 semapv:UnspecifiedMatching MONDO:0022037 large-cell immunoblastic lymphoma skos:exactMatch MEDGEN:86955 semapv:UnspecifiedMatching MONDO:0022037 large-cell immunoblastic lymphoma skos:exactMatch UMLS:C0079746 semapv:UnspecifiedMatching MONDO:0022037 large-cell immunoblastic lymphoma skos:exactMatch mesh:D016400 semapv:UnspecifiedMatching MONDO:0022055 Calabro syndrome skos:exactMatch MEDGEN:163240 semapv:UnspecifiedMatching MONDO:0022055 Calabro syndrome skos:exactMatch UMLS:C0796276 semapv:UnspecifiedMatching MONDO:0022055 Calabro syndrome skos:exactMatch mesh:C537960 semapv:UnspecifiedMatching MONDO:0022057 calcifying epithelial odontogenic tumor skos:exactMatch MEDGEN:87266 semapv:UnspecifiedMatching MONDO:0022057 calcifying epithelial odontogenic tumor skos:exactMatch NCIT:C54301 Calcifying Epithelial Odontogenic Tumor semapv:UnspecifiedMatching MONDO:0022057 calcifying epithelial odontogenic tumor skos:exactMatch UMLS:C0334574 semapv:UnspecifiedMatching MONDO:0022057 calcifying epithelial odontogenic tumor skos:exactMatch mesh:C537961 semapv:UnspecifiedMatching MONDO:0022060 calloso-genital dysplasia skos:exactMatch MEDGEN:419867 semapv:UnspecifiedMatching MONDO:0022060 calloso-genital dysplasia skos:exactMatch UMLS:C2931677 semapv:UnspecifiedMatching MONDO:0022060 calloso-genital dysplasia skos:exactMatch mesh:C537962 semapv:UnspecifiedMatching MONDO:0022067 Cantu Sanchez-Corona Fragoso syndrome skos:exactMatch MEDGEN:419290 semapv:UnspecifiedMatching MONDO:0022067 Cantu Sanchez-Corona Fragoso syndrome skos:exactMatch UMLS:C2930937 semapv:UnspecifiedMatching MONDO:0022067 Cantu Sanchez-Corona Fragoso syndrome skos:exactMatch mesh:C535571 semapv:UnspecifiedMatching MONDO:0022071 carbon baby syndrome skos:exactMatch MEDGEN:98349 semapv:UnspecifiedMatching MONDO:0022071 carbon baby syndrome skos:exactMatch SCTID:238700008 semapv:UnspecifiedMatching MONDO:0022071 carbon baby syndrome skos:exactMatch UMLS:C0406419 semapv:UnspecifiedMatching MONDO:0022089 Carnevale hernandez castillo syndrome skos:exactMatch MEDGEN:419672 semapv:UnspecifiedMatching MONDO:0022089 Carnevale hernandez castillo syndrome skos:exactMatch UMLS:C2930940 semapv:UnspecifiedMatching MONDO:0022089 Carnevale hernandez castillo syndrome skos:exactMatch mesh:C535585 semapv:UnspecifiedMatching MONDO:0022094 Cartwright Nelson Fryns syndrome skos:exactMatch MEDGEN:443968 semapv:UnspecifiedMatching MONDO:0022094 Cartwright Nelson Fryns syndrome skos:exactMatch UMLS:C2931062 semapv:UnspecifiedMatching MONDO:0022094 Cartwright Nelson Fryns syndrome skos:exactMatch mesh:C535917 semapv:UnspecifiedMatching MONDO:0022096 pyogenic granuloma skos:exactMatch ICD10CM:L98.0 Pyogenic granuloma semapv:UnspecifiedMatching MONDO:0022096 pyogenic granuloma skos:exactMatch MEDGEN:39085 semapv:UnspecifiedMatching MONDO:0022096 pyogenic granuloma skos:exactMatch NCIT:C3480 Lobular Capillary Hemangioma semapv:UnspecifiedMatching MONDO:0022096 pyogenic granuloma skos:exactMatch SCTID:200722003 semapv:UnspecifiedMatching MONDO:0022096 pyogenic granuloma skos:exactMatch UMLS:C0085653 semapv:UnspecifiedMatching MONDO:0022096 pyogenic granuloma skos:exactMatch icd11.foundation:440675859 Lobular capillary haemangioma semapv:UnspecifiedMatching MONDO:0022096 pyogenic granuloma skos:exactMatch mesh:D017789 semapv:UnspecifiedMatching MONDO:0022098 catamenial pneumothorax skos:exactMatch MEDGEN:83298 semapv:UnspecifiedMatching MONDO:0022098 catamenial pneumothorax skos:exactMatch SCTID:233642001 semapv:UnspecifiedMatching MONDO:0022098 catamenial pneumothorax skos:exactMatch UMLS:C0340007 semapv:UnspecifiedMatching MONDO:0022098 catamenial pneumothorax skos:exactMatch icd11.foundation:1744257132 Catamenial pneumothorax semapv:UnspecifiedMatching MONDO:0022098 catamenial pneumothorax skos:exactMatch mesh:C538279 semapv:UnspecifiedMatching MONDO:0022103 chronic prostatitis skos:exactMatch ICD10CM:N41.1 Chronic prostatitis semapv:UnspecifiedMatching MONDO:0022103 chronic prostatitis skos:exactMatch MEDGEN:88454 semapv:UnspecifiedMatching MONDO:0022103 chronic prostatitis skos:exactMatch NCIT:C26930 Chronic Prostatitis semapv:UnspecifiedMatching MONDO:0022103 chronic prostatitis skos:exactMatch SCTID:19905009 semapv:UnspecifiedMatching MONDO:0022103 chronic prostatitis skos:exactMatch UMLS:C0085696 semapv:UnspecifiedMatching MONDO:0022103 chronic prostatitis skos:exactMatch icd11.foundation:249426483 Chronic prostatitis semapv:UnspecifiedMatching MONDO:0022109 obsolete catatrichy skos:exactMatch OMIM:116850 catatrichy semapv:UnspecifiedMatching MONDO:0022109 obsolete catatrichy skos:exactMatch mesh:C535346 semapv:UnspecifiedMatching MONDO:0022113 central centrifugal cicatricial alopecia skos:exactMatch MEDGEN:698033 semapv:UnspecifiedMatching MONDO:0022113 central centrifugal cicatricial alopecia skos:exactMatch OMIM:618352 central centrifugal cicatricial alopecia semapv:UnspecifiedMatching MONDO:0022113 central centrifugal cicatricial alopecia skos:exactMatch SCTID:109441000119102 semapv:UnspecifiedMatching MONDO:0022113 central centrifugal cicatricial alopecia skos:exactMatch UMLS:C1274708 semapv:UnspecifiedMatching MONDO:0022140 Charles bonnet syndrome skos:exactMatch MEDGEN:137926 semapv:UnspecifiedMatching MONDO:0022140 Charles bonnet syndrome skos:exactMatch SCTID:193756007 semapv:UnspecifiedMatching MONDO:0022140 Charles bonnet syndrome skos:exactMatch UMLS:C0339731 semapv:UnspecifiedMatching MONDO:0022140 Charles bonnet syndrome skos:exactMatch mesh:D000075562 semapv:UnspecifiedMatching MONDO:0022151 Chitty Hall Webb syndrome skos:exactMatch MEDGEN:418975 semapv:UnspecifiedMatching MONDO:0022151 Chitty Hall Webb syndrome skos:exactMatch SCTID:725103004 semapv:UnspecifiedMatching MONDO:0022151 Chitty Hall Webb syndrome skos:exactMatch UMLS:C2931066 semapv:UnspecifiedMatching MONDO:0022151 Chitty Hall Webb syndrome skos:exactMatch mesh:C535929 semapv:UnspecifiedMatching MONDO:0022171 chromhidrosis skos:exactMatch ICD10CM:L75.1 Chromhidrosis semapv:UnspecifiedMatching MONDO:0022171 chromhidrosis skos:exactMatch MEDGEN:82667 semapv:UnspecifiedMatching MONDO:0022171 chromhidrosis skos:exactMatch SCTID:26147006 semapv:UnspecifiedMatching MONDO:0022171 chromhidrosis skos:exactMatch UMLS:C0263473 semapv:UnspecifiedMatching MONDO:0022171 chromhidrosis skos:exactMatch icd11.foundation:864449620 Chromhidrosis semapv:UnspecifiedMatching MONDO:0022173 chromosome 11q trisomy skos:exactMatch MEDGEN:167075 semapv:UnspecifiedMatching MONDO:0022173 chromosome 11q trisomy skos:exactMatch Orphanet:262923 Partial duplication of the long arm of chromosome 11 syndrome semapv:UnspecifiedMatching MONDO:0022173 chromosome 11q trisomy skos:exactMatch UMLS:C0795842 semapv:UnspecifiedMatching MONDO:0022173 chromosome 11q trisomy skos:exactMatch mesh:C538297 semapv:UnspecifiedMatching MONDO:0022174 chromosome 12p deletion skos:exactMatch MEDGEN:208640 semapv:UnspecifiedMatching MONDO:0022174 chromosome 12p deletion skos:exactMatch Orphanet:316244 Partial deletion of the short arm of chromosome 12 syndrome semapv:UnspecifiedMatching MONDO:0022174 chromosome 12p deletion skos:exactMatch UMLS:C0795844 semapv:UnspecifiedMatching MONDO:0022174 chromosome 12p deletion skos:exactMatch mesh:C538301 semapv:UnspecifiedMatching MONDO:0022174 chromosome 12p deletion skos:exactMatch mesh:C538302 semapv:UnspecifiedMatching MONDO:0022177 chromosome 13q trisomy skos:exactMatch MEDGEN:162780 semapv:UnspecifiedMatching MONDO:0022177 chromosome 13q trisomy skos:exactMatch Orphanet:262932 Partial duplication of the long arm of chromosome 13 syndrome semapv:UnspecifiedMatching MONDO:0022177 chromosome 13q trisomy skos:exactMatch UMLS:C0795849 semapv:UnspecifiedMatching MONDO:0022177 chromosome 13q trisomy skos:exactMatch mesh:C535485 semapv:UnspecifiedMatching MONDO:0022178 chromosome 13q-mosaicism skos:exactMatch MEDGEN:443931 semapv:UnspecifiedMatching MONDO:0022178 chromosome 13q-mosaicism skos:exactMatch UMLS:C2930915 semapv:UnspecifiedMatching MONDO:0022178 chromosome 13q-mosaicism skos:exactMatch mesh:C535486 semapv:UnspecifiedMatching MONDO:0022180 chromosome 16 trisomy skos:exactMatch MEDGEN:276900 semapv:UnspecifiedMatching MONDO:0022180 chromosome 16 trisomy skos:exactMatch UMLS:C1519651 semapv:UnspecifiedMatching MONDO:0022196 chronic erosive gastritis skos:exactMatch MEDGEN:78626 semapv:UnspecifiedMatching MONDO:0022196 chronic erosive gastritis skos:exactMatch SCTID:63137003 semapv:UnspecifiedMatching MONDO:0022196 chronic erosive gastritis skos:exactMatch UMLS:C0267145 semapv:UnspecifiedMatching MONDO:0022205 pustular psoriasis skos:exactMatch MEDGEN:508876 semapv:UnspecifiedMatching MONDO:0022205 pustular psoriasis skos:exactMatch SCTID:200973000 semapv:UnspecifiedMatching MONDO:0022205 pustular psoriasis skos:exactMatch UMLS:C0152081 semapv:UnspecifiedMatching MONDO:0022205 pustular psoriasis skos:exactMatch icd11.foundation:64081271 Pustular psoriasis semapv:UnspecifiedMatching MONDO:0022208 crystal arthropathy skos:exactMatch MEDGEN:508879 semapv:UnspecifiedMatching MONDO:0022208 crystal arthropathy skos:exactMatch SCTID:18834007 semapv:UnspecifiedMatching MONDO:0022208 crystal arthropathy skos:exactMatch UMLS:C0152087 semapv:UnspecifiedMatching MONDO:0022220 Parinaud syndrome skos:exactMatch MEDGEN:57754 semapv:UnspecifiedMatching MONDO:0022220 Parinaud syndrome skos:exactMatch NCIT:C54102 Parinaud Syndrome semapv:UnspecifiedMatching MONDO:0022220 Parinaud syndrome skos:exactMatch SCTID:37991008 semapv:UnspecifiedMatching MONDO:0022220 Parinaud syndrome skos:exactMatch UMLS:C0152222 semapv:UnspecifiedMatching MONDO:0022236 colpocephaly skos:exactMatch MEDGEN:98131 semapv:UnspecifiedMatching MONDO:0022236 colpocephaly skos:exactMatch SCTID:253160006 semapv:UnspecifiedMatching MONDO:0022236 colpocephaly skos:exactMatch UMLS:C0431384 semapv:UnspecifiedMatching MONDO:0022236 colpocephaly skos:exactMatch icd11.foundation:845275248 Colpocephaly semapv:UnspecifiedMatching MONDO:0022236 colpocephaly skos:exactMatch mesh:C535973 semapv:UnspecifiedMatching MONDO:0022293 vascular disorder of penis skos:exactMatch MEDGEN:102349 semapv:UnspecifiedMatching MONDO:0022293 vascular disorder of penis skos:exactMatch NCIT:C35218 Penile Vascular Disorder semapv:UnspecifiedMatching MONDO:0022293 vascular disorder of penis skos:exactMatch SCTID:198029003 semapv:UnspecifiedMatching MONDO:0022293 vascular disorder of penis skos:exactMatch UMLS:C0156307 semapv:UnspecifiedMatching MONDO:0022308 corticobasal degeneration disorder skos:exactMatch ICD10CM:G31.85 Corticobasal degeneration semapv:UnspecifiedMatching MONDO:0022308 corticobasal degeneration disorder skos:exactMatch MEDGEN:95979 semapv:UnspecifiedMatching MONDO:0022308 corticobasal degeneration disorder skos:exactMatch NCIT:C129069 Corticobasal Degeneration semapv:UnspecifiedMatching MONDO:0022308 corticobasal degeneration disorder skos:exactMatch SCTID:18842008 semapv:UnspecifiedMatching MONDO:0022308 corticobasal degeneration disorder skos:exactMatch UMLS:C0393570 semapv:UnspecifiedMatching MONDO:0022311 cote katsantoni syndrome skos:exactMatch MEDGEN:419356 semapv:UnspecifiedMatching MONDO:0022311 cote katsantoni syndrome skos:exactMatch UMLS:C2931195 semapv:UnspecifiedMatching MONDO:0022311 cote katsantoni syndrome skos:exactMatch mesh:C536449 semapv:UnspecifiedMatching MONDO:0022316 hair defect with photosensitivity and intellectual disability syndrome skos:exactMatch MEDGEN:383868 semapv:UnspecifiedMatching MONDO:0022316 hair defect with photosensitivity and intellectual disability syndrome skos:exactMatch OMIM:234030 hair defect with photosensitivity and impaired intellectual development semapv:UnspecifiedMatching MONDO:0022316 hair defect with photosensitivity and intellectual disability syndrome skos:exactMatch SCTID:721007005 semapv:UnspecifiedMatching MONDO:0022316 hair defect with photosensitivity and intellectual disability syndrome skos:exactMatch UMLS:C1856241 semapv:UnspecifiedMatching MONDO:0022316 hair defect with photosensitivity and intellectual disability syndrome skos:exactMatch mesh:C537628 semapv:UnspecifiedMatching MONDO:0022321 2-methylacetoacetyl CoA thiolase deficiency skos:exactMatch MEDGEN:419652 semapv:UnspecifiedMatching MONDO:0022321 2-methylacetoacetyl CoA thiolase deficiency skos:exactMatch UMLS:C2930874 semapv:UnspecifiedMatching MONDO:0022321 2-methylacetoacetyl CoA thiolase deficiency skos:exactMatch mesh:C535307 semapv:UnspecifiedMatching MONDO:0022323 2-hydroxyethyl methacrylate sensitization skos:exactMatch MEDGEN:443922 semapv:UnspecifiedMatching MONDO:0022323 2-hydroxyethyl methacrylate sensitization skos:exactMatch UMLS:C2930873 semapv:UnspecifiedMatching MONDO:0022323 2-hydroxyethyl methacrylate sensitization skos:exactMatch mesh:C535305 semapv:UnspecifiedMatching MONDO:0022330 4-hydroxyphenylacetic aciduria skos:exactMatch MEDGEN:376417 semapv:UnspecifiedMatching MONDO:0022330 4-hydroxyphenylacetic aciduria skos:exactMatch UMLS:C1848680 semapv:UnspecifiedMatching MONDO:0022330 4-hydroxyphenylacetic aciduria skos:exactMatch mesh:C535315 semapv:UnspecifiedMatching MONDO:0022333 5-nucleotidase syndrome skos:exactMatch MEDGEN:419653 semapv:UnspecifiedMatching MONDO:0022333 5-nucleotidase syndrome skos:exactMatch UMLS:C2930876 semapv:UnspecifiedMatching MONDO:0022333 5-nucleotidase syndrome skos:exactMatch mesh:C535321 semapv:UnspecifiedMatching MONDO:0022337 AIDS dysmorphic syndrome skos:exactMatch MEDGEN:1843488 semapv:UnspecifiedMatching MONDO:0022337 AIDS dysmorphic syndrome skos:exactMatch UMLS:C5243926 semapv:UnspecifiedMatching MONDO:0022349 congenital absence of septum pellucidum skos:exactMatch MEDGEN:96561 semapv:UnspecifiedMatching MONDO:0022349 congenital absence of septum pellucidum skos:exactMatch SCTID:253143001 semapv:UnspecifiedMatching MONDO:0022349 congenital absence of septum pellucidum skos:exactMatch UMLS:C0431371 semapv:UnspecifiedMatching MONDO:0022349 congenital absence of septum pellucidum skos:exactMatch mesh:C535562 semapv:UnspecifiedMatching MONDO:0022357 congenital acardia skos:exactMatch MEDGEN:91032 semapv:UnspecifiedMatching MONDO:0022357 congenital acardia skos:exactMatch SCTID:205834002 semapv:UnspecifiedMatching MONDO:0022357 congenital acardia skos:exactMatch UMLS:C0344580 semapv:UnspecifiedMatching MONDO:0022394 cervical intraepithelial neoplasia skos:exactMatch MEDGEN:60214 semapv:UnspecifiedMatching MONDO:0022394 cervical intraepithelial neoplasia skos:exactMatch NCIT:C3782 Cervical Intraepithelial Neoplasia semapv:UnspecifiedMatching MONDO:0022394 cervical intraepithelial neoplasia skos:exactMatch SCTID:285636001 semapv:UnspecifiedMatching MONDO:0022394 cervical intraepithelial neoplasia skos:exactMatch UMLS:C0206708 semapv:UnspecifiedMatching MONDO:0022397 obsolete retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene skos:exactMatch Orphanet:156168 Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene semapv:UnspecifiedMatching MONDO:0022399 obsolete retinal ciliopathy due to mutation in the RPGR gene skos:exactMatch Orphanet:156171 Retinal ciliopathy due to mutation in the RPGR gene semapv:UnspecifiedMatching MONDO:0022400 obsolete retinal ciliopathy due to mutation in the RPGRIP gene skos:exactMatch Orphanet:156174 Retinal ciliopathy due to mutation in the RPGRIP gene semapv:UnspecifiedMatching MONDO:0022404 obsolete retinal ciliopathy due to mutation in Usher gene skos:exactMatch Orphanet:156177 Retinal ciliopathy due to mutation in Usher gene semapv:UnspecifiedMatching MONDO:0022405 obsolete retinal ciliopathy due to mutation in nephronophthisis gene skos:exactMatch Orphanet:156180 Retinal ciliopathy due to mutation in nephronophthisis gene semapv:UnspecifiedMatching MONDO:0022407 obsolete retinal ciliopathy due to mutation in Bardet-Biedl gene skos:exactMatch Orphanet:156183 Retinal ciliopathy due to mutation in Bardet-Biedl gene semapv:UnspecifiedMatching MONDO:0022409 obsolete nephropathy-associated ciliopathy skos:exactMatch Orphanet:156162 Renal ciliopathy semapv:UnspecifiedMatching MONDO:0022410 retinal ciliopathy skos:exactMatch MEDGEN:1843204 semapv:UnspecifiedMatching MONDO:0022410 retinal ciliopathy skos:exactMatch Orphanet:156165 Retinal ciliopathy semapv:UnspecifiedMatching MONDO:0022410 retinal ciliopathy skos:exactMatch UMLS:C5680651 semapv:UnspecifiedMatching MONDO:0022414 obsolete allain-babin-demarquez syndrome skos:exactMatch Orphanet:1526 OBSOLETE: Craniosynostosis-synostoses-hypertensive nephropathy syndrome semapv:UnspecifiedMatching MONDO:0022417 alopecia congenita keratosis palmoplantaris skos:exactMatch MEDGEN:354901 semapv:UnspecifiedMatching MONDO:0022417 alopecia congenita keratosis palmoplantaris skos:exactMatch UMLS:C1863093 semapv:UnspecifiedMatching MONDO:0022417 alopecia congenita keratosis palmoplantaris skos:exactMatch mesh:C537050 semapv:UnspecifiedMatching MONDO:0022424 alpha-mannosidosis type 1 skos:exactMatch MEDGEN:419756 semapv:UnspecifiedMatching MONDO:0022424 alpha-mannosidosis type 1 skos:exactMatch SCTID:62311004 semapv:UnspecifiedMatching MONDO:0022424 alpha-mannosidosis type 1 skos:exactMatch UMLS:C2931251 semapv:UnspecifiedMatching MONDO:0022424 alpha-mannosidosis type 1 skos:exactMatch mesh:C536584 semapv:UnspecifiedMatching MONDO:0022428 aluminosis skos:exactMatch ICD10CM:J63.0 Aluminosis (of lung) semapv:UnspecifiedMatching MONDO:0022428 aluminosis skos:exactMatch MEDGEN:452403 semapv:UnspecifiedMatching MONDO:0022428 aluminosis skos:exactMatch SCTID:90623003 semapv:UnspecifiedMatching MONDO:0022428 aluminosis skos:exactMatch UMLS:C0311227 semapv:UnspecifiedMatching MONDO:0022430 persistent fetal circulation syndrome skos:exactMatch EFO:1001103 semapv:UnspecifiedMatching MONDO:0022430 persistent fetal circulation syndrome skos:exactMatch ICD10CM:P29.3 Persistent fetal circulation semapv:UnspecifiedMatching MONDO:0022430 persistent fetal circulation syndrome skos:exactMatch MEDGEN:45824 semapv:UnspecifiedMatching MONDO:0022430 persistent fetal circulation syndrome skos:exactMatch NCIT:C85006 Persistent Fetal Circulation semapv:UnspecifiedMatching MONDO:0022430 persistent fetal circulation syndrome skos:exactMatch SCTID:233815004 semapv:UnspecifiedMatching MONDO:0022430 persistent fetal circulation syndrome skos:exactMatch UMLS:C0031190 semapv:UnspecifiedMatching MONDO:0022430 persistent fetal circulation syndrome skos:exactMatch icd11.foundation:346808536 Persistent pulmonary hypertension of the newborn semapv:UnspecifiedMatching MONDO:0022430 persistent fetal circulation syndrome skos:exactMatch mesh:D010547 semapv:UnspecifiedMatching MONDO:0022432 alves Castelo dos Santos syndrome skos:exactMatch MEDGEN:419758 semapv:UnspecifiedMatching MONDO:0022432 alves Castelo dos Santos syndrome skos:exactMatch UMLS:C2931256 semapv:UnspecifiedMatching MONDO:0022432 alves Castelo dos Santos syndrome skos:exactMatch mesh:C536593 semapv:UnspecifiedMatching MONDO:0022435 Mauriac syndrome skos:exactMatch MEDGEN:526123 semapv:UnspecifiedMatching MONDO:0022435 Mauriac syndrome skos:exactMatch NCIT:C130997 Mauriac Syndrome semapv:UnspecifiedMatching MONDO:0022435 Mauriac syndrome skos:exactMatch SCTID:80660001 semapv:UnspecifiedMatching MONDO:0022435 Mauriac syndrome skos:exactMatch UMLS:C0221005 semapv:UnspecifiedMatching MONDO:0022453 angiomyomatous hamartoma skos:exactMatch MEDGEN:450938 semapv:UnspecifiedMatching MONDO:0022453 angiomyomatous hamartoma skos:exactMatch UMLS:C2959445 semapv:UnspecifiedMatching MONDO:0022509 asternia skos:exactMatch MEDGEN:869485 semapv:UnspecifiedMatching MONDO:0022509 asternia skos:exactMatch UMLS:C4023912 semapv:UnspecifiedMatching MONDO:0022510 atlanto-axial fusion skos:exactMatch mesh:C538196 semapv:UnspecifiedMatching MONDO:0022513 atrophoderma of Pierini and Pasini skos:exactMatch ICD10CM:L90.3 Atrophoderma of Pasini and Pierini semapv:UnspecifiedMatching MONDO:0022513 atrophoderma of Pierini and Pasini skos:exactMatch MEDGEN:854615 semapv:UnspecifiedMatching MONDO:0022513 atrophoderma of Pierini and Pasini skos:exactMatch Orphanet:658810 Atrophoderma of Pasini and Pierini semapv:UnspecifiedMatching MONDO:0022513 atrophoderma of Pierini and Pasini skos:exactMatch SCTID:711524008 semapv:UnspecifiedMatching MONDO:0022513 atrophoderma of Pierini and Pasini skos:exactMatch UMLS:C3887897 semapv:UnspecifiedMatching MONDO:0022518 autoimmune inner ear disease skos:exactMatch MEDGEN:583162 semapv:UnspecifiedMatching MONDO:0022518 autoimmune inner ear disease skos:exactMatch UMLS:C0395947 semapv:UnspecifiedMatching MONDO:0022518 autoimmune inner ear disease skos:exactMatch icd11.foundation:1392879169 Autoimmune inner ear disease semapv:UnspecifiedMatching MONDO:0022519 autoimmune myocarditis skos:exactMatch DOID:0080767 autoimmune myocarditis semapv:UnspecifiedMatching MONDO:0022519 autoimmune myocarditis skos:exactMatch MEDGEN:299070 semapv:UnspecifiedMatching MONDO:0022519 autoimmune myocarditis skos:exactMatch UMLS:C1608389 semapv:UnspecifiedMatching MONDO:0022529 BK-virus nephropathy skos:exactMatch DOID:0040086 Polyomavirus-associated nephropathy semapv:UnspecifiedMatching MONDO:0022529 BK-virus nephropathy skos:exactMatch MEDGEN:352157 semapv:UnspecifiedMatching MONDO:0022529 BK-virus nephropathy skos:exactMatch SCTID:713886006 semapv:UnspecifiedMatching MONDO:0022529 BK-virus nephropathy skos:exactMatch UMLS:C1697878 semapv:UnspecifiedMatching MONDO:0022535 autonomic facial cephalgia skos:exactMatch MEDGEN:536866 semapv:UnspecifiedMatching MONDO:0022535 autonomic facial cephalgia skos:exactMatch SCTID:230482003 semapv:UnspecifiedMatching MONDO:0022535 autonomic facial cephalgia skos:exactMatch UMLS:C0238902 semapv:UnspecifiedMatching MONDO:0022538 leukoplakia of gingiva skos:exactMatch MEDGEN:66795 semapv:UnspecifiedMatching MONDO:0022538 leukoplakia of gingiva skos:exactMatch NCIT:C3881 Leukoplakia of Gingiva semapv:UnspecifiedMatching MONDO:0022538 leukoplakia of gingiva skos:exactMatch SCTID:32236000 semapv:UnspecifiedMatching MONDO:0022538 leukoplakia of gingiva skos:exactMatch UMLS:C0239737 semapv:UnspecifiedMatching MONDO:0022552 Bazopoulou Kyrkanidou syndrome skos:exactMatch MEDGEN:444091 semapv:UnspecifiedMatching MONDO:0022552 Bazopoulou Kyrkanidou syndrome skos:exactMatch UMLS:C2931580 semapv:UnspecifiedMatching MONDO:0022552 Bazopoulou Kyrkanidou syndrome skos:exactMatch mesh:C537664 semapv:UnspecifiedMatching MONDO:0022555 Beardwell syndrome skos:exactMatch MEDGEN:419446 semapv:UnspecifiedMatching MONDO:0022555 Beardwell syndrome skos:exactMatch UMLS:C2931581 semapv:UnspecifiedMatching MONDO:0022555 Beardwell syndrome skos:exactMatch mesh:C537665 semapv:UnspecifiedMatching MONDO:0022557 Behrens Baumann dust syndrome skos:exactMatch MEDGEN:444092 semapv:UnspecifiedMatching MONDO:0022557 Behrens Baumann dust syndrome skos:exactMatch UMLS:C2931582 semapv:UnspecifiedMatching MONDO:0022557 Behrens Baumann dust syndrome skos:exactMatch mesh:C537670 semapv:UnspecifiedMatching MONDO:0022560 benign metastasizing leiomyoma skos:exactMatch MEDGEN:307261 semapv:UnspecifiedMatching MONDO:0022560 benign metastasizing leiomyoma skos:exactMatch UMLS:C1511090 semapv:UnspecifiedMatching MONDO:0022567 bhaskar jagannathan syndrome skos:exactMatch MEDGEN:419280 semapv:UnspecifiedMatching MONDO:0022567 bhaskar jagannathan syndrome skos:exactMatch UMLS:C2930901 semapv:UnspecifiedMatching MONDO:0022567 bhaskar jagannathan syndrome skos:exactMatch mesh:C535437 semapv:UnspecifiedMatching MONDO:0022568 bidirectional tachycardia skos:exactMatch MEDGEN:418944 semapv:UnspecifiedMatching MONDO:0022568 bidirectional tachycardia skos:exactMatch UMLS:C2930902 semapv:UnspecifiedMatching MONDO:0022568 bidirectional tachycardia skos:exactMatch mesh:C535438 semapv:UnspecifiedMatching MONDO:0022578 childhood bladder carcinoma skos:exactMatch MEDGEN:859269 semapv:UnspecifiedMatching MONDO:0022578 childhood bladder carcinoma skos:exactMatch NCIT:C118816 Childhood Bladder Carcinoma semapv:UnspecifiedMatching MONDO:0022578 childhood bladder carcinoma skos:exactMatch UMLS:C3899675 semapv:UnspecifiedMatching MONDO:0022609 bronchial adenomas/carcinoids childhood skos:exactMatch MEDGEN:861863 semapv:UnspecifiedMatching MONDO:0022609 bronchial adenomas/carcinoids childhood skos:exactMatch UMLS:C4013426 semapv:UnspecifiedMatching MONDO:0022611 Brunoni syndrome skos:exactMatch MEDGEN:444066 semapv:UnspecifiedMatching MONDO:0022611 Brunoni syndrome skos:exactMatch UMLS:C2931486 semapv:UnspecifiedMatching MONDO:0022611 Brunoni syndrome skos:exactMatch mesh:C537408 semapv:UnspecifiedMatching MONDO:0022612 Brunsting-Perry syndrome skos:exactMatch MEDGEN:725587 semapv:UnspecifiedMatching MONDO:0022612 Brunsting-Perry syndrome skos:exactMatch UMLS:C1304226 semapv:UnspecifiedMatching MONDO:0022618 burning mouth syndrome type 3 skos:exactMatch MEDGEN:419423 semapv:UnspecifiedMatching MONDO:0022618 burning mouth syndrome type 3 skos:exactMatch UMLS:C2931487 semapv:UnspecifiedMatching MONDO:0022618 burning mouth syndrome type 3 skos:exactMatch mesh:C537413 semapv:UnspecifiedMatching MONDO:0022633 camptodactyly joint contractures and facial skeletal dysplasia skos:exactMatch MEDGEN:419868 semapv:UnspecifiedMatching MONDO:0022633 camptodactyly joint contractures and facial skeletal dysplasia skos:exactMatch UMLS:C2931678 semapv:UnspecifiedMatching MONDO:0022633 camptodactyly joint contractures and facial skeletal dysplasia skos:exactMatch mesh:C537969 semapv:UnspecifiedMatching MONDO:0022634 camptodactyly vertebral fusion skos:exactMatch MEDGEN:444116 semapv:UnspecifiedMatching MONDO:0022634 camptodactyly vertebral fusion skos:exactMatch UMLS:C2931682 semapv:UnspecifiedMatching MONDO:0022634 camptodactyly vertebral fusion skos:exactMatch mesh:C537973 semapv:UnspecifiedMatching MONDO:0022642 childhood carcinoid tumor skos:exactMatch MEDGEN:859267 semapv:UnspecifiedMatching MONDO:0022642 childhood carcinoid tumor skos:exactMatch NCIT:C118810 Childhood Neuroendocrine Tumor G1 semapv:UnspecifiedMatching MONDO:0022642 childhood carcinoid tumor skos:exactMatch UMLS:C3899673 semapv:UnspecifiedMatching MONDO:0022653 cardiomyopathy due to anthracyclines skos:exactMatch MEDGEN:1755373 semapv:UnspecifiedMatching MONDO:0022653 cardiomyopathy due to anthracyclines skos:exactMatch UMLS:C5437452 semapv:UnspecifiedMatching MONDO:0022654 cardiomyopathy hypogonadism collagenoma syndrome skos:exactMatch MEDGEN:354607 semapv:UnspecifiedMatching MONDO:0022654 cardiomyopathy hypogonadism collagenoma syndrome skos:exactMatch UMLS:C1861860 semapv:UnspecifiedMatching MONDO:0022654 cardiomyopathy hypogonadism collagenoma syndrome skos:exactMatch mesh:C535582 semapv:UnspecifiedMatching MONDO:0022673 autosomal dominant non-nuclear cataract skos:exactMatch MEDGEN:318648 semapv:UnspecifiedMatching MONDO:0022673 autosomal dominant non-nuclear cataract skos:exactMatch UMLS:C1832526 semapv:UnspecifiedMatching MONDO:0022673 autosomal dominant non-nuclear cataract skos:exactMatch mesh:C538284 semapv:UnspecifiedMatching MONDO:0022685 cerebellar agenesis skos:exactMatch MEDGEN:868414 semapv:UnspecifiedMatching MONDO:0022685 cerebellar agenesis skos:exactMatch UMLS:C4022808 semapv:UnspecifiedMatching MONDO:0022687 cerebellar degeneration skos:exactMatch DOID:1443 cerebral degeneration semapv:UnspecifiedMatching MONDO:0022687 cerebellar degeneration skos:exactMatch MEDGEN:75496 semapv:UnspecifiedMatching MONDO:0022687 cerebellar degeneration skos:exactMatch NCIT:C84624 Cerebellar Degeneration semapv:UnspecifiedMatching MONDO:0022687 cerebellar degeneration skos:exactMatch SCTID:95646004 semapv:UnspecifiedMatching MONDO:0022687 cerebellar degeneration skos:exactMatch UMLS:C0262404 semapv:UnspecifiedMatching MONDO:0022697 athetoid cerebral palsy skos:exactMatch DOID:0050672 dyskinetic cerebral palsy semapv:UnspecifiedMatching MONDO:0022697 athetoid cerebral palsy skos:exactMatch ICD10CM:G80.3 Athetoid cerebral palsy semapv:UnspecifiedMatching MONDO:0022697 athetoid cerebral palsy skos:exactMatch MEDGEN:82853 semapv:UnspecifiedMatching MONDO:0022697 athetoid cerebral palsy skos:exactMatch NCIT:C97169 Athetoid Cerebral Palsy semapv:UnspecifiedMatching MONDO:0022697 athetoid cerebral palsy skos:exactMatch SCTID:230780007 semapv:UnspecifiedMatching MONDO:0022697 athetoid cerebral palsy skos:exactMatch SCTID:75019001 semapv:UnspecifiedMatching MONDO:0022697 athetoid cerebral palsy skos:exactMatch UMLS:C0270742 semapv:UnspecifiedMatching MONDO:0022699 cerebral palsy spastic hemiplegic skos:exactMatch MEDGEN:208850 semapv:UnspecifiedMatching MONDO:0022699 cerebral palsy spastic hemiplegic skos:exactMatch UMLS:C0837177 semapv:UnspecifiedMatching MONDO:0022700 cerebral palsy spastic monoplegic skos:exactMatch MEDGEN:78732 semapv:UnspecifiedMatching MONDO:0022700 cerebral palsy spastic monoplegic skos:exactMatch UMLS:C0270807 semapv:UnspecifiedMatching MONDO:0022712 oculo digital syndrome skos:exactMatch MEDGEN:419324 semapv:UnspecifiedMatching MONDO:0022712 oculo digital syndrome skos:exactMatch UMLS:C2931063 semapv:UnspecifiedMatching MONDO:0022712 oculo digital syndrome skos:exactMatch mesh:C535922 semapv:UnspecifiedMatching MONDO:0022714 chester porphyria skos:exactMatch MEDGEN:82789 semapv:UnspecifiedMatching MONDO:0022714 chester porphyria skos:exactMatch UMLS:C0268322 semapv:UnspecifiedMatching MONDO:0022715 Chiari malformation type 3 skos:exactMatch MEDGEN:148202 semapv:UnspecifiedMatching MONDO:0022715 Chiari malformation type 3 skos:exactMatch SCTID:253186001 semapv:UnspecifiedMatching MONDO:0022715 Chiari malformation type 3 skos:exactMatch UMLS:C0750931 semapv:UnspecifiedMatching MONDO:0022716 Chiari malformation type 4 skos:exactMatch MEDGEN:148203 semapv:UnspecifiedMatching MONDO:0022716 Chiari malformation type 4 skos:exactMatch SCTID:253187005 semapv:UnspecifiedMatching MONDO:0022716 Chiari malformation type 4 skos:exactMatch UMLS:C0750932 semapv:UnspecifiedMatching MONDO:0022723 chondrodysplasia skos:exactMatch MEDGEN:91012 semapv:UnspecifiedMatching MONDO:0022723 chondrodysplasia skos:exactMatch SCTID:205465004 semapv:UnspecifiedMatching MONDO:0022723 chondrodysplasia skos:exactMatch UMLS:C0343284 semapv:UnspecifiedMatching MONDO:0022734 chorioretinopathy dominant form microcephaly skos:exactMatch MEDGEN:502349 semapv:UnspecifiedMatching MONDO:0022734 chorioretinopathy dominant form microcephaly skos:exactMatch UMLS:C3501946 semapv:UnspecifiedMatching MONDO:0022735 choroid plexus cyst skos:exactMatch MEDGEN:87376 semapv:UnspecifiedMatching MONDO:0022735 choroid plexus cyst skos:exactMatch NCIT:C4351 Choroid Plexus Cyst semapv:UnspecifiedMatching MONDO:0022735 choroid plexus cyst skos:exactMatch SCTID:230790004 semapv:UnspecifiedMatching MONDO:0022735 choroid plexus cyst skos:exactMatch UMLS:C0338597 semapv:UnspecifiedMatching MONDO:0022736 occupational lung disease skos:exactMatch MEDGEN:538557 semapv:UnspecifiedMatching MONDO:0022736 occupational lung disease skos:exactMatch SCTID:86157004 semapv:UnspecifiedMatching MONDO:0022736 occupational lung disease skos:exactMatch UMLS:C0264421 semapv:UnspecifiedMatching MONDO:0022737 choroideremia hypopituitarism skos:exactMatch SCTID:715417002 semapv:UnspecifiedMatching MONDO:0022742 occupational asthma skos:exactMatch DOID:0080820 occupational asthma semapv:UnspecifiedMatching MONDO:0022742 occupational asthma skos:exactMatch MEDGEN:452342 semapv:UnspecifiedMatching MONDO:0022742 occupational asthma skos:exactMatch SCTID:57607007 semapv:UnspecifiedMatching MONDO:0022742 occupational asthma skos:exactMatch UMLS:C0264423 semapv:UnspecifiedMatching MONDO:0022742 occupational asthma skos:exactMatch mesh:D059366 semapv:UnspecifiedMatching MONDO:0022745 mixed dust pneumoconiosis skos:exactMatch MEDGEN:78109 semapv:UnspecifiedMatching MONDO:0022745 mixed dust pneumoconiosis skos:exactMatch SCTID:32139003 semapv:UnspecifiedMatching MONDO:0022745 mixed dust pneumoconiosis skos:exactMatch UMLS:C0264436 semapv:UnspecifiedMatching MONDO:0022746 chromosome 13p duplication skos:exactMatch MEDGEN:419282 semapv:UnspecifiedMatching MONDO:0022746 chromosome 13p duplication skos:exactMatch UMLS:C2930906 semapv:UnspecifiedMatching MONDO:0022746 chromosome 13p duplication skos:exactMatch mesh:C535450 semapv:UnspecifiedMatching MONDO:0022749 non-neoplastic nevus skos:exactMatch MEDGEN:78119 semapv:UnspecifiedMatching MONDO:0022749 non-neoplastic nevus skos:exactMatch NCIT:C3937 Non-Neoplastic Nevus semapv:UnspecifiedMatching MONDO:0022749 non-neoplastic nevus skos:exactMatch SCTID:195381005 semapv:UnspecifiedMatching MONDO:0022749 non-neoplastic nevus skos:exactMatch UMLS:C0265027 semapv:UnspecifiedMatching MONDO:0022752 chromosome 16p13.3 deletion syndrome skos:exactMatch MEDGEN:502906 semapv:UnspecifiedMatching MONDO:0022752 chromosome 16p13.3 deletion syndrome skos:exactMatch UMLS:C3502510 semapv:UnspecifiedMatching MONDO:0022752 chromosome 16p13.3 deletion syndrome skos:exactMatch mesh:C566433 semapv:UnspecifiedMatching MONDO:0022754 chromosome 17p deletion skos:exactMatch MEDGEN:1842221 semapv:UnspecifiedMatching MONDO:0022754 chromosome 17p deletion skos:exactMatch Orphanet:261965 Partial deletion of the short arm of chromosome 17 syndrome semapv:UnspecifiedMatching MONDO:0022754 chromosome 17p deletion skos:exactMatch UMLS:C5679671 semapv:UnspecifiedMatching MONDO:0022754 chromosome 17p deletion skos:exactMatch icd11.foundation:527787991 Deletions of the short arm of chromosome 17 semapv:UnspecifiedMatching MONDO:0022754 chromosome 17p deletion skos:exactMatch mesh:C538045 semapv:UnspecifiedMatching MONDO:0022755 chromosome 18 mosaic monosomy skos:exactMatch MEDGEN:419755 semapv:UnspecifiedMatching MONDO:0022755 chromosome 18 mosaic monosomy skos:exactMatch UMLS:C2931250 semapv:UnspecifiedMatching MONDO:0022755 chromosome 18 mosaic monosomy skos:exactMatch mesh:C536581 semapv:UnspecifiedMatching MONDO:0022756 chromosome 1q deletion skos:exactMatch MEDGEN:1825942 semapv:UnspecifiedMatching MONDO:0022756 chromosome 1q deletion skos:exactMatch Orphanet:262001 Partial deletion of the long arm of chromosome 1 syndrome semapv:UnspecifiedMatching MONDO:0022756 chromosome 1q deletion skos:exactMatch UMLS:C5679674 semapv:UnspecifiedMatching MONDO:0022756 chromosome 1q deletion skos:exactMatch icd11.foundation:296620919 Deletions of the long arm of chromosome 1 semapv:UnspecifiedMatching MONDO:0022757 chromosome 20 trisomy skos:exactMatch MEDGEN:1876538 semapv:UnspecifiedMatching MONDO:0022757 chromosome 20 trisomy skos:exactMatch UMLS:C5979883 semapv:UnspecifiedMatching MONDO:0022757 chromosome 20 trisomy skos:exactMatch mesh:C535372 semapv:UnspecifiedMatching MONDO:0022758 chromosome 22, monosome mosaic skos:exactMatch MEDGEN:419776 semapv:UnspecifiedMatching MONDO:0022758 chromosome 22, monosome mosaic skos:exactMatch UMLS:C2931330 semapv:UnspecifiedMatching MONDO:0022758 chromosome 22, monosome mosaic skos:exactMatch mesh:C536798 semapv:UnspecifiedMatching MONDO:0022759 trisomy 22 skos:exactMatch MEDGEN:82711 semapv:UnspecifiedMatching MONDO:0022759 trisomy 22 skos:exactMatch SCTID:205655003 semapv:UnspecifiedMatching MONDO:0022759 trisomy 22 skos:exactMatch UMLS:C0265490 semapv:UnspecifiedMatching MONDO:0022759 trisomy 22 skos:exactMatch mesh:C536799 semapv:UnspecifiedMatching MONDO:0022760 chromosome 22q deletion skos:exactMatch MEDGEN:539297 semapv:UnspecifiedMatching MONDO:0022760 chromosome 22q deletion skos:exactMatch Orphanet:262182 Partial deletion of the long arm of chromosome 22 syndrome semapv:UnspecifiedMatching MONDO:0022760 chromosome 22q deletion skos:exactMatch UMLS:C0265489 semapv:UnspecifiedMatching MONDO:0022761 chromosome 3 duplication syndrome skos:exactMatch MEDGEN:419778 semapv:UnspecifiedMatching MONDO:0022761 chromosome 3 duplication syndrome skos:exactMatch UMLS:C2931333 semapv:UnspecifiedMatching MONDO:0022761 chromosome 3 duplication syndrome skos:exactMatch mesh:C536803 semapv:UnspecifiedMatching MONDO:0022762 chromosome 4 short arm deletion skos:exactMatch ICD10CM:Q93.3 Deletion of short arm of chromosome 4 semapv:UnspecifiedMatching MONDO:0022762 chromosome 4 short arm deletion skos:exactMatch MEDGEN:419441 semapv:UnspecifiedMatching MONDO:0022762 chromosome 4 short arm deletion skos:exactMatch Orphanet:261884 Partial deletion of the short arm of chromosome 4 syndrome semapv:UnspecifiedMatching MONDO:0022762 chromosome 4 short arm deletion skos:exactMatch UMLS:C2931557 semapv:UnspecifiedMatching MONDO:0022762 chromosome 4 short arm deletion skos:exactMatch icd11.foundation:1460916074 Deletions of the short arm of chromosome 4 semapv:UnspecifiedMatching MONDO:0022762 chromosome 4 short arm deletion skos:exactMatch mesh:C537637 semapv:UnspecifiedMatching MONDO:0022772 classic Kaposi sarcoma skos:exactMatch MEDGEN:78931 semapv:UnspecifiedMatching MONDO:0022772 classic Kaposi sarcoma skos:exactMatch NCIT:C9112 Classic Kaposi Sarcoma semapv:UnspecifiedMatching MONDO:0022772 classic Kaposi sarcoma skos:exactMatch UMLS:C0279084 semapv:UnspecifiedMatching MONDO:0022772 classic Kaposi sarcoma skos:exactMatch icd11.foundation:1595913346 Classic Kaposi sarcoma semapv:UnspecifiedMatching MONDO:0022790 cleft tongue skos:exactMatch MEDGEN:82731 semapv:UnspecifiedMatching MONDO:0022790 cleft tongue skos:exactMatch UMLS:C0266111 semapv:UnspecifiedMatching MONDO:0022792 coccygodynia skos:exactMatch MEDGEN:507576 semapv:UnspecifiedMatching MONDO:0022792 coccygodynia skos:exactMatch UMLS:C0009193 semapv:UnspecifiedMatching MONDO:0022792 coccygodynia skos:exactMatch icd11.foundation:718979238 Coccygodynia semapv:UnspecifiedMatching MONDO:0022799 cold urticaria skos:exactMatch EFO:1001881 semapv:UnspecifiedMatching MONDO:0022799 cold urticaria skos:exactMatch MEDGEN:472942 semapv:UnspecifiedMatching MONDO:0022799 cold urticaria skos:exactMatch SCTID:74774004 semapv:UnspecifiedMatching MONDO:0022799 cold urticaria skos:exactMatch UMLS:C0221207 semapv:UnspecifiedMatching MONDO:0022799 cold urticaria skos:exactMatch icd11.foundation:915116593 Cold urticaria semapv:UnspecifiedMatching MONDO:0022800 type 2 collagenopathy skos:exactMatch MEDGEN:419326 semapv:UnspecifiedMatching MONDO:0022800 type 2 collagenopathy skos:exactMatch Orphanet:93421 Type 2 collagen-related bone disorder semapv:UnspecifiedMatching MONDO:0022800 type 2 collagenopathy skos:exactMatch UMLS:C2931073 semapv:UnspecifiedMatching MONDO:0022800 type 2 collagenopathy skos:exactMatch mesh:C535964 semapv:UnspecifiedMatching MONDO:0022805 colonic malakoplakia skos:exactMatch MEDGEN:540762 semapv:UnspecifiedMatching MONDO:0022805 colonic malakoplakia skos:exactMatch UMLS:C0267536 semapv:UnspecifiedMatching MONDO:0022812 complement receptor deficiency skos:exactMatch MEDGEN:96025 semapv:UnspecifiedMatching MONDO:0022812 complement receptor deficiency skos:exactMatch SCTID:234628004 semapv:UnspecifiedMatching MONDO:0022812 complement receptor deficiency skos:exactMatch UMLS:C0398783 semapv:UnspecifiedMatching MONDO:0022815 congenital absence of the sternocleidomastoid muscle skos:exactMatch MEDGEN:419327 semapv:UnspecifiedMatching MONDO:0022815 congenital absence of the sternocleidomastoid muscle skos:exactMatch UMLS:C2931075 semapv:UnspecifiedMatching MONDO:0022815 congenital absence of the sternocleidomastoid muscle skos:exactMatch mesh:C535977 semapv:UnspecifiedMatching MONDO:0022817 congenital amputation skos:exactMatch MEDGEN:346618 semapv:UnspecifiedMatching MONDO:0022817 congenital amputation skos:exactMatch UMLS:C1857583 semapv:UnspecifiedMatching MONDO:0022820 congenital articular rigidity skos:exactMatch MEDGEN:108568 semapv:UnspecifiedMatching MONDO:0022820 congenital articular rigidity skos:exactMatch UMLS:C0595987 semapv:UnspecifiedMatching MONDO:0022822 congenital cardiovascular shunt skos:exactMatch MEDGEN:108904 semapv:UnspecifiedMatching MONDO:0022822 congenital cardiovascular shunt skos:exactMatch UMLS:C0596366 semapv:UnspecifiedMatching MONDO:0022823 congenital contractures skos:exactMatch MEDGEN:83066 semapv:UnspecifiedMatching MONDO:0022823 congenital contractures skos:exactMatch UMLS:C0332878 semapv:UnspecifiedMatching MONDO:0022825 congenital cystic eye skos:exactMatch MEDGEN:510582 semapv:UnspecifiedMatching MONDO:0022825 congenital cystic eye skos:exactMatch Orphanet:519384 Congenital cystic eye semapv:UnspecifiedMatching MONDO:0022825 congenital cystic eye skos:exactMatch UMLS:C0158543 semapv:UnspecifiedMatching MONDO:0022825 congenital cystic eye skos:exactMatch icd11.foundation:2061090928 Congenital cystic eye semapv:UnspecifiedMatching MONDO:0022839 congenital human immunodeficiency virus skos:exactMatch MEDGEN:636232 semapv:UnspecifiedMatching MONDO:0022839 congenital human immunodeficiency virus skos:exactMatch UMLS:C0520783 semapv:UnspecifiedMatching MONDO:0022851 Dennis-Fairhurst-Moore syndrome skos:exactMatch MEDGEN:419158 semapv:UnspecifiedMatching MONDO:0022851 Dennis-Fairhurst-Moore syndrome skos:exactMatch Orphanet:2109 Hallermann-Streiff-like syndrome semapv:UnspecifiedMatching MONDO:0022851 Dennis-Fairhurst-Moore syndrome skos:exactMatch UMLS:C2931775 semapv:UnspecifiedMatching MONDO:0022851 Dennis-Fairhurst-Moore syndrome skos:exactMatch mesh:C538210 semapv:UnspecifiedMatching MONDO:0022859 cor biloculare skos:exactMatch MEDGEN:56271 semapv:UnspecifiedMatching MONDO:0022859 cor biloculare skos:exactMatch NCIT:C124591 Cor Biloculare semapv:UnspecifiedMatching MONDO:0022859 cor biloculare skos:exactMatch SCTID:81990004 semapv:UnspecifiedMatching MONDO:0022859 cor biloculare skos:exactMatch UMLS:C0152238 semapv:UnspecifiedMatching MONDO:0022901 Crohn disease of the esophagus skos:exactMatch MEDGEN:574175 semapv:UnspecifiedMatching MONDO:0022901 Crohn disease of the esophagus skos:exactMatch UMLS:C0341116 semapv:UnspecifiedMatching MONDO:0022904 cryofibrinogenemia skos:exactMatch MEDGEN:78798 semapv:UnspecifiedMatching MONDO:0022904 cryofibrinogenemia skos:exactMatch SCTID:10934005 semapv:UnspecifiedMatching MONDO:0022904 cryofibrinogenemia skos:exactMatch UMLS:C0272263 semapv:UnspecifiedMatching MONDO:0022904 cryofibrinogenemia skos:exactMatch mesh:C536218 semapv:UnspecifiedMatching MONDO:0022921 obsolete short stature-microcephaly-heart defect syndrome skos:exactMatch Orphanet:2861 OBSOLETE: Short stature-microcephaly-heart defect syndrome semapv:UnspecifiedMatching MONDO:0022930 Dandy-Walker malformation with nasopharyngeal teratoma and diaphragmatic hernia skos:exactMatch MEDGEN:419910 semapv:UnspecifiedMatching MONDO:0022930 Dandy-Walker malformation with nasopharyngeal teratoma and diaphragmatic hernia skos:exactMatch UMLS:C2931823 semapv:UnspecifiedMatching MONDO:0022930 Dandy-Walker malformation with nasopharyngeal teratoma and diaphragmatic hernia skos:exactMatch mesh:C538340 semapv:UnspecifiedMatching MONDO:0022932 Davenport-Donlan syndrome skos:exactMatch MEDGEN:443971 semapv:UnspecifiedMatching MONDO:0022932 Davenport-Donlan syndrome skos:exactMatch UMLS:C2931076 semapv:UnspecifiedMatching MONDO:0022932 Davenport-Donlan syndrome skos:exactMatch mesh:C535988 semapv:UnspecifiedMatching MONDO:0022934 Davis Lafer syndrome skos:exactMatch MEDGEN:419708 semapv:UnspecifiedMatching MONDO:0022934 Davis Lafer syndrome skos:exactMatch UMLS:C2931077 semapv:UnspecifiedMatching MONDO:0022934 Davis Lafer syndrome skos:exactMatch mesh:C535989 semapv:UnspecifiedMatching MONDO:0022936 de Hauwere Leroy adriaenssens syndrome skos:exactMatch MEDGEN:419709 semapv:UnspecifiedMatching MONDO:0022936 de Hauwere Leroy adriaenssens syndrome skos:exactMatch UMLS:C2931078 semapv:UnspecifiedMatching MONDO:0022936 de Hauwere Leroy adriaenssens syndrome skos:exactMatch mesh:C535991 semapv:UnspecifiedMatching MONDO:0022948 Deal Barratt Dillon syndrome skos:exactMatch MEDGEN:444139 semapv:UnspecifiedMatching MONDO:0022948 Deal Barratt Dillon syndrome skos:exactMatch UMLS:C2931773 semapv:UnspecifiedMatching MONDO:0022948 Deal Barratt Dillon syndrome skos:exactMatch mesh:C538206 semapv:UnspecifiedMatching MONDO:0022963 desmoplastic infantile astrocytoma skos:exactMatch MEDGEN:141595 semapv:UnspecifiedMatching MONDO:0022963 desmoplastic infantile astrocytoma skos:exactMatch NCIT:C9476 Desmoplastic Infantile Astrocytoma semapv:UnspecifiedMatching MONDO:0022963 desmoplastic infantile astrocytoma skos:exactMatch UMLS:C0457179 semapv:UnspecifiedMatching MONDO:0022965 desmoplastic infantile ganglioglioma skos:exactMatch DOID:0081259 desmoplastic infantile ganglioglioma / desmoplastic infantile astrocytoma semapv:UnspecifiedMatching MONDO:0022965 desmoplastic infantile ganglioglioma skos:exactMatch MEDGEN:231168 semapv:UnspecifiedMatching MONDO:0022965 desmoplastic infantile ganglioglioma skos:exactMatch NCIT:C4738 Desmoplastic Infantile Ganglioglioma semapv:UnspecifiedMatching MONDO:0022965 desmoplastic infantile ganglioglioma skos:exactMatch UMLS:C1321878 semapv:UnspecifiedMatching MONDO:0022968 dextrocardia with situs inversus skos:exactMatch MEDGEN:237234 semapv:UnspecifiedMatching MONDO:0022968 dextrocardia with situs inversus skos:exactMatch UMLS:C1395317 semapv:UnspecifiedMatching MONDO:0022972 diabetic mastopathy skos:exactMatch MEDGEN:419098 semapv:UnspecifiedMatching MONDO:0022972 diabetic mastopathy skos:exactMatch SCTID:724136006 semapv:UnspecifiedMatching MONDO:0022972 diabetic mastopathy skos:exactMatch UMLS:C2931521 semapv:UnspecifiedMatching MONDO:0022972 diabetic mastopathy skos:exactMatch mesh:C537524 semapv:UnspecifiedMatching MONDO:0022983 Dieterich disease skos:exactMatch MEDGEN:418997 semapv:UnspecifiedMatching MONDO:0022983 Dieterich disease skos:exactMatch UMLS:C2931124 semapv:UnspecifiedMatching MONDO:0022983 Dieterich disease skos:exactMatch mesh:C536172 semapv:UnspecifiedMatching MONDO:0022986 diffuse idiopathic pulmonary neuroendocrine cell hyperplasia skos:exactMatch MEDGEN:232427 semapv:UnspecifiedMatching MONDO:0022986 diffuse idiopathic pulmonary neuroendocrine cell hyperplasia skos:exactMatch NCIT:C7437 Diffuse Idiopathic Pulmonary Neuroendocrine Cell Hyperplasia semapv:UnspecifiedMatching MONDO:0022986 diffuse idiopathic pulmonary neuroendocrine cell hyperplasia skos:exactMatch Orphanet:617916 Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia semapv:UnspecifiedMatching MONDO:0022986 diffuse idiopathic pulmonary neuroendocrine cell hyperplasia skos:exactMatch UMLS:C1333291 semapv:UnspecifiedMatching MONDO:0022986 diffuse idiopathic pulmonary neuroendocrine cell hyperplasia skos:exactMatch icd11.foundation:1480946725 Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia semapv:UnspecifiedMatching MONDO:0022991 diploid-triploid mosaicism skos:exactMatch MEDGEN:444358 semapv:UnspecifiedMatching MONDO:0022991 diploid-triploid mosaicism skos:exactMatch SCTID:10177005 semapv:UnspecifiedMatching MONDO:0022991 diploid-triploid mosaicism skos:exactMatch UMLS:C2932665 semapv:UnspecifiedMatching MONDO:0022991 diploid-triploid mosaicism skos:exactMatch mesh:C548012 semapv:UnspecifiedMatching MONDO:0022993 dipsogenic diabetes insipidus skos:exactMatch DOID:0081058 dipsogenic diabetes insipidus semapv:UnspecifiedMatching MONDO:0022993 dipsogenic diabetes insipidus skos:exactMatch MEDGEN:82829 semapv:UnspecifiedMatching MONDO:0022993 dipsogenic diabetes insipidus skos:exactMatch NCIT:C129735 Dipsogenic Diabetes Insipidus semapv:UnspecifiedMatching MONDO:0022993 dipsogenic diabetes insipidus skos:exactMatch SCTID:82800008 semapv:UnspecifiedMatching MONDO:0022993 dipsogenic diabetes insipidus skos:exactMatch UMLS:C0268813 semapv:UnspecifiedMatching MONDO:0022993 dipsogenic diabetes insipidus skos:exactMatch mesh:C548013 semapv:UnspecifiedMatching MONDO:0022998 distal arthrogryposis Moore weaver type skos:exactMatch MEDGEN:419054 semapv:UnspecifiedMatching MONDO:0022998 distal arthrogryposis Moore weaver type skos:exactMatch UMLS:C2931342 semapv:UnspecifiedMatching MONDO:0022998 distal arthrogryposis Moore weaver type skos:exactMatch mesh:C536814 semapv:UnspecifiedMatching MONDO:0023002 double discordia skos:exactMatch MEDGEN:137675 semapv:UnspecifiedMatching MONDO:0023002 double discordia skos:exactMatch UMLS:C0332941 semapv:UnspecifiedMatching MONDO:0023005 double uterus-hemivagina-renal agenesis skos:exactMatch MEDGEN:928221 semapv:UnspecifiedMatching MONDO:0023005 double uterus-hemivagina-renal agenesis skos:exactMatch UMLS:C4302552 semapv:UnspecifiedMatching MONDO:0023007 Drachtman Weinblatt Sitarz syndrome skos:exactMatch MEDGEN:419292 semapv:UnspecifiedMatching MONDO:0023007 Drachtman Weinblatt Sitarz syndrome skos:exactMatch UMLS:C2930947 semapv:UnspecifiedMatching MONDO:0023007 Drachtman Weinblatt Sitarz syndrome skos:exactMatch mesh:C535603 semapv:UnspecifiedMatching MONDO:0023011 Wilson-Mikity syndrome skos:exactMatch ICD10CM:P27.0 Wilson-Mikity syndrome semapv:UnspecifiedMatching MONDO:0023011 Wilson-Mikity syndrome skos:exactMatch MEDGEN:78714 semapv:UnspecifiedMatching MONDO:0023011 Wilson-Mikity syndrome skos:exactMatch SCTID:51577008 semapv:UnspecifiedMatching MONDO:0023011 Wilson-Mikity syndrome skos:exactMatch UMLS:C0270171 semapv:UnspecifiedMatching MONDO:0023011 Wilson-Mikity syndrome skos:exactMatch icd11.foundation:846899990 Wilson-Mikity syndrome semapv:UnspecifiedMatching MONDO:0023013 Duker-Weiss-Siber syndrome skos:exactMatch MEDGEN:419689 semapv:UnspecifiedMatching MONDO:0023013 Duker-Weiss-Siber syndrome skos:exactMatch UMLS:C2930993 semapv:UnspecifiedMatching MONDO:0023013 Duker-Weiss-Siber syndrome skos:exactMatch mesh:C535719 semapv:UnspecifiedMatching MONDO:0023023 neonatal dacryocystitis skos:exactMatch MEDGEN:542581 semapv:UnspecifiedMatching MONDO:0023023 neonatal dacryocystitis skos:exactMatch NCIT:C116819 Neonatal Dacryocystitis semapv:UnspecifiedMatching MONDO:0023023 neonatal dacryocystitis skos:exactMatch SCTID:23735003 semapv:UnspecifiedMatching MONDO:0023023 neonatal dacryocystitis skos:exactMatch UMLS:C0270178 semapv:UnspecifiedMatching MONDO:0023035 Eagle syndrome skos:exactMatch MEDGEN:357035 semapv:UnspecifiedMatching MONDO:0023035 Eagle syndrome skos:exactMatch SCTID:609143007 semapv:UnspecifiedMatching MONDO:0023035 Eagle syndrome skos:exactMatch UMLS:C1868714 semapv:UnspecifiedMatching MONDO:0023035 Eagle syndrome skos:exactMatch mesh:C538010 semapv:UnspecifiedMatching MONDO:0023039 eccrine mucinous carcinoma skos:exactMatch MEDGEN:577240 semapv:UnspecifiedMatching MONDO:0023039 eccrine mucinous carcinoma skos:exactMatch UMLS:C0346020 semapv:UnspecifiedMatching MONDO:0023043 ectodermal dysplasia alopecia preaxial polydactyly skos:exactMatch MEDGEN:419138 semapv:UnspecifiedMatching MONDO:0023043 ectodermal dysplasia alopecia preaxial polydactyly skos:exactMatch UMLS:C2931691 semapv:UnspecifiedMatching MONDO:0023043 ectodermal dysplasia alopecia preaxial polydactyly skos:exactMatch mesh:C538016 semapv:UnspecifiedMatching MONDO:0023050 ectrodactyly cardiopathy dysmorphism skos:exactMatch MEDGEN:419342 semapv:UnspecifiedMatching MONDO:0023050 ectrodactyly cardiopathy dysmorphism skos:exactMatch UMLS:C2931127 semapv:UnspecifiedMatching MONDO:0023050 ectrodactyly cardiopathy dysmorphism skos:exactMatch mesh:C536187 semapv:UnspecifiedMatching MONDO:0023054 klumpke's paralysis skos:exactMatch MEDGEN:124376 semapv:UnspecifiedMatching MONDO:0023054 klumpke's paralysis skos:exactMatch NCIT:C116724 Klumpke Palsy semapv:UnspecifiedMatching MONDO:0023054 klumpke's paralysis skos:exactMatch SCTID:83886009 semapv:UnspecifiedMatching MONDO:0023054 klumpke's paralysis skos:exactMatch UMLS:C0270898 semapv:UnspecifiedMatching MONDO:0023059 Elliott ludman Teebi syndrome skos:exactMatch MEDGEN:443982 semapv:UnspecifiedMatching MONDO:0023059 Elliott ludman Teebi syndrome skos:exactMatch UMLS:C2931128 semapv:UnspecifiedMatching MONDO:0023059 Elliott ludman Teebi syndrome skos:exactMatch mesh:C536204 semapv:UnspecifiedMatching MONDO:0023067 endemic Kaposi sarcoma skos:exactMatch MEDGEN:698516 semapv:UnspecifiedMatching MONDO:0023067 endemic Kaposi sarcoma skos:exactMatch UMLS:C1275231 semapv:UnspecifiedMatching MONDO:0023067 endemic Kaposi sarcoma skos:exactMatch icd11.foundation:509381237 Endemic Kaposi sarcoma semapv:UnspecifiedMatching MONDO:0023069 enlarged vestibular aqueduct syndrome skos:exactMatch DOID:0050332 enlarged vestibular aqueduct semapv:UnspecifiedMatching MONDO:0023069 enlarged vestibular aqueduct syndrome skos:exactMatch MEDGEN:355050 semapv:UnspecifiedMatching MONDO:0023069 enlarged vestibular aqueduct syndrome skos:exactMatch UMLS:C1863752 semapv:UnspecifiedMatching MONDO:0023072 obsolete envenomization by Bothrops lanceolatus skos:exactMatch Orphanet:1939 OBSOLETE: Envenomization by Bothrops lanceolatus semapv:UnspecifiedMatching MONDO:0023073 eosinophilic cryptitis skos:exactMatch MEDGEN:148162 semapv:UnspecifiedMatching MONDO:0023073 eosinophilic cryptitis skos:exactMatch SCTID:445918001 semapv:UnspecifiedMatching MONDO:0023073 eosinophilic cryptitis skos:exactMatch UMLS:C0742965 semapv:UnspecifiedMatching MONDO:0023076 eosinophilic pustular folliculitis skos:exactMatch MEDGEN:140800 semapv:UnspecifiedMatching MONDO:0023076 eosinophilic pustular folliculitis skos:exactMatch SCTID:95333004 semapv:UnspecifiedMatching MONDO:0023076 eosinophilic pustular folliculitis skos:exactMatch UMLS:C0406305 semapv:UnspecifiedMatching MONDO:0023076 eosinophilic pustular folliculitis skos:exactMatch icd11.foundation:1653155576 Eosinophilic pustular folliculitis semapv:UnspecifiedMatching MONDO:0023076 eosinophilic pustular folliculitis skos:exactMatch mesh:C535953 semapv:UnspecifiedMatching MONDO:0023089 erythroplakia skos:exactMatch MEDGEN:41862 semapv:UnspecifiedMatching MONDO:0023089 erythroplakia skos:exactMatch NCIT:C3025 Erythroplakia semapv:UnspecifiedMatching MONDO:0023089 erythroplakia skos:exactMatch UMLS:C0014818 semapv:UnspecifiedMatching MONDO:0023093 exertional headache skos:exactMatch MEDGEN:1780177 semapv:UnspecifiedMatching MONDO:0023093 exertional headache skos:exactMatch UMLS:C2363911 semapv:UnspecifiedMatching MONDO:0023094 exogenous ochronosis skos:exactMatch MEDGEN:1854236 semapv:UnspecifiedMatching MONDO:0023094 exogenous ochronosis skos:exactMatch SCTID:410041002 semapv:UnspecifiedMatching MONDO:0023094 exogenous ochronosis skos:exactMatch UMLS:C5887145 semapv:UnspecifiedMatching MONDO:0023094 exogenous ochronosis skos:exactMatch icd11.foundation:835922687 Exogenous ochronosis semapv:UnspecifiedMatching MONDO:0023094 exogenous ochronosis skos:exactMatch mesh:C531762 semapv:UnspecifiedMatching MONDO:0023098 extrasystoles short stature hyperpigmentation microcephaly skos:exactMatch MEDGEN:1660843 semapv:UnspecifiedMatching MONDO:0023098 extrasystoles short stature hyperpigmentation microcephaly skos:exactMatch UMLS:C4749763 semapv:UnspecifiedMatching MONDO:0023106 Fairbank disease skos:exactMatch MEDGEN:343598 semapv:UnspecifiedMatching MONDO:0023106 Fairbank disease skos:exactMatch UMLS:C1851537 semapv:UnspecifiedMatching MONDO:0023106 Fairbank disease skos:exactMatch mesh:C536393 semapv:UnspecifiedMatching MONDO:0023111 familial capillaro-venous leptomeningeal angiomatosis skos:exactMatch MEDGEN:419030 semapv:UnspecifiedMatching MONDO:0023111 familial capillaro-venous leptomeningeal angiomatosis skos:exactMatch UMLS:C2931262 semapv:UnspecifiedMatching MONDO:0023111 familial capillaro-venous leptomeningeal angiomatosis skos:exactMatch mesh:C536609 semapv:UnspecifiedMatching MONDO:0023119 familial myelofibrosis skos:exactMatch MEDGEN:444034 semapv:UnspecifiedMatching MONDO:0023119 familial myelofibrosis skos:exactMatch UMLS:C2931351 semapv:UnspecifiedMatching MONDO:0023119 familial myelofibrosis skos:exactMatch mesh:C536848 semapv:UnspecifiedMatching MONDO:0023122 familial prostate carcinoma skos:exactMatch MEDGEN:1667326 semapv:UnspecifiedMatching MONDO:0023122 familial prostate carcinoma skos:exactMatch NCIT:C103817 Hereditary Prostate Carcinoma semapv:UnspecifiedMatching MONDO:0023122 familial prostate carcinoma skos:exactMatch UMLS:C4722328 semapv:UnspecifiedMatching MONDO:0023133 Faye-Petersen-Ward-Carey syndrome skos:exactMatch MEDGEN:419797 semapv:UnspecifiedMatching MONDO:0023133 Faye-Petersen-Ward-Carey syndrome skos:exactMatch UMLS:C2931417 semapv:UnspecifiedMatching MONDO:0023133 Faye-Petersen-Ward-Carey syndrome skos:exactMatch mesh:C537076 semapv:UnspecifiedMatching MONDO:0023134 febrile ulceronecrotic Mucha-Habermann disease skos:exactMatch MEDGEN:266145 semapv:UnspecifiedMatching MONDO:0023134 febrile ulceronecrotic Mucha-Habermann disease skos:exactMatch SCTID:402860008 semapv:UnspecifiedMatching MONDO:0023134 febrile ulceronecrotic Mucha-Habermann disease skos:exactMatch UMLS:C1274297 semapv:UnspecifiedMatching MONDO:0023134 febrile ulceronecrotic Mucha-Habermann disease skos:exactMatch icd11.foundation:1408299147 Febrile ulceronecrotic Mucha-Habermann disease semapv:UnspecifiedMatching MONDO:0023134 febrile ulceronecrotic Mucha-Habermann disease skos:exactMatch mesh:C537077 semapv:UnspecifiedMatching MONDO:0023138 Feingold trainer syndrome skos:exactMatch MEDGEN:419341 semapv:UnspecifiedMatching MONDO:0023138 Feingold trainer syndrome skos:exactMatch UMLS:C2931126 semapv:UnspecifiedMatching MONDO:0023138 Feingold trainer syndrome skos:exactMatch mesh:C536179 semapv:UnspecifiedMatching MONDO:0023149 infection due to clostridium perfringens skos:exactMatch MEDGEN:546696 semapv:UnspecifiedMatching MONDO:0023149 infection due to clostridium perfringens skos:exactMatch SCTID:65154009 semapv:UnspecifiedMatching MONDO:0023149 infection due to clostridium perfringens skos:exactMatch UMLS:C0275619 semapv:UnspecifiedMatching MONDO:0023152 fibrocartilaginous embolism skos:exactMatch MEDGEN:419466 semapv:UnspecifiedMatching MONDO:0023152 fibrocartilaginous embolism skos:exactMatch UMLS:C2931666 semapv:UnspecifiedMatching MONDO:0023152 fibrocartilaginous embolism skos:exactMatch mesh:C537927 semapv:UnspecifiedMatching MONDO:0023153 tuberculous ascites skos:exactMatch MEDGEN:78815 semapv:UnspecifiedMatching MONDO:0023153 tuberculous ascites skos:exactMatch NCIT:C27076 Tuberculous Ascites semapv:UnspecifiedMatching MONDO:0023153 tuberculous ascites skos:exactMatch SCTID:4501007 semapv:UnspecifiedMatching MONDO:0023153 tuberculous ascites skos:exactMatch UMLS:C0275919 semapv:UnspecifiedMatching MONDO:0023153 tuberculous ascites skos:exactMatch icd11.foundation:1747509566 Tuberculous ascites semapv:UnspecifiedMatching MONDO:0023154 fibromatosis multiple non ossifying skos:exactMatch MEDGEN:450548 semapv:UnspecifiedMatching MONDO:0023154 fibromatosis multiple non ossifying skos:exactMatch SCTID:715432009 semapv:UnspecifiedMatching MONDO:0023154 fibromatosis multiple non ossifying skos:exactMatch UMLS:C0796000 semapv:UnspecifiedMatching MONDO:0023158 Fitz-Hugh-Curtis syndrome skos:exactMatch MEDGEN:639814 semapv:UnspecifiedMatching MONDO:0023158 Fitz-Hugh-Curtis syndrome skos:exactMatch SCTID:237041005 semapv:UnspecifiedMatching MONDO:0023158 Fitz-Hugh-Curtis syndrome skos:exactMatch UMLS:C0549148 semapv:UnspecifiedMatching MONDO:0023158 Fitz-Hugh-Curtis syndrome skos:exactMatch mesh:C537936 semapv:UnspecifiedMatching MONDO:0023161 viral myocarditis skos:exactMatch ICD10CM:B33.22 Viral myocarditis semapv:UnspecifiedMatching MONDO:0023161 viral myocarditis skos:exactMatch MEDGEN:547112 semapv:UnspecifiedMatching MONDO:0023161 viral myocarditis skos:exactMatch NCIT:C128381 Viral Myocarditis semapv:UnspecifiedMatching MONDO:0023161 viral myocarditis skos:exactMatch SCTID:89141000 semapv:UnspecifiedMatching MONDO:0023161 viral myocarditis skos:exactMatch UMLS:C0276138 semapv:UnspecifiedMatching MONDO:0023161 viral myocarditis skos:exactMatch icd11.foundation:231270764 Viral myocarditis semapv:UnspecifiedMatching MONDO:0023164 viral pericarditis skos:exactMatch ICD10CM:B33.23 Viral pericarditis semapv:UnspecifiedMatching MONDO:0023164 viral pericarditis skos:exactMatch MEDGEN:547113 semapv:UnspecifiedMatching MONDO:0023164 viral pericarditis skos:exactMatch NCIT:C128405 Viral Pericarditis semapv:UnspecifiedMatching MONDO:0023164 viral pericarditis skos:exactMatch SCTID:70189005 semapv:UnspecifiedMatching MONDO:0023164 viral pericarditis skos:exactMatch UMLS:C0276139 semapv:UnspecifiedMatching MONDO:0023164 viral pericarditis skos:exactMatch icd11.foundation:624707101 Viral pericarditis semapv:UnspecifiedMatching MONDO:0023165 florid cystic endosalpingiosis of the uterus skos:exactMatch MEDGEN:419405 semapv:UnspecifiedMatching MONDO:0023165 florid cystic endosalpingiosis of the uterus skos:exactMatch UMLS:C2931410 semapv:UnspecifiedMatching MONDO:0023165 florid cystic endosalpingiosis of the uterus skos:exactMatch mesh:C537064 semapv:UnspecifiedMatching MONDO:0023171 foix chavany Marie syndrome skos:exactMatch MEDGEN:419406 semapv:UnspecifiedMatching MONDO:0023171 foix chavany Marie syndrome skos:exactMatch Orphanet:2048 Foix-Chavany-Marie syndrome semapv:UnspecifiedMatching MONDO:0023171 foix chavany Marie syndrome skos:exactMatch SCTID:720956003 semapv:UnspecifiedMatching MONDO:0023171 foix chavany Marie syndrome skos:exactMatch UMLS:C2931412 semapv:UnspecifiedMatching MONDO:0023171 foix chavany Marie syndrome skos:exactMatch mesh:C537069 semapv:UnspecifiedMatching MONDO:0023176 formaldehyde poisoning skos:exactMatch mesh:C537268 semapv:UnspecifiedMatching MONDO:0023182 Franceschini Vardeu Guala syndrome skos:exactMatch MEDGEN:419814 semapv:UnspecifiedMatching MONDO:0023182 Franceschini Vardeu Guala syndrome skos:exactMatch UMLS:C2931463 semapv:UnspecifiedMatching MONDO:0023182 Franceschini Vardeu Guala syndrome skos:exactMatch mesh:C537272 semapv:UnspecifiedMatching MONDO:0023186 Fraser Jequier Chen syndrome skos:exactMatch MEDGEN:419665 semapv:UnspecifiedMatching MONDO:0023186 Fraser Jequier Chen syndrome skos:exactMatch UMLS:C2930912 semapv:UnspecifiedMatching MONDO:0023186 Fraser Jequier Chen syndrome skos:exactMatch mesh:C535481 semapv:UnspecifiedMatching MONDO:0023188 Freiberg disease skos:exactMatch MEDGEN:75532 semapv:UnspecifiedMatching MONDO:0023188 Freiberg disease skos:exactMatch Orphanet:564003 Osteochondrosis of the metatarsal bone semapv:UnspecifiedMatching MONDO:0023188 Freiberg disease skos:exactMatch SCTID:28466007 semapv:UnspecifiedMatching MONDO:0023188 Freiberg disease skos:exactMatch UMLS:C0264099 semapv:UnspecifiedMatching MONDO:0023188 Freiberg disease skos:exactMatch icd11.foundation:74359553 Freiberg disease semapv:UnspecifiedMatching MONDO:0023188 Freiberg disease skos:exactMatch mesh:C535636 semapv:UnspecifiedMatching MONDO:0023201 Fryns Smeets Thiry syndrome skos:exactMatch MEDGEN:1803270 semapv:UnspecifiedMatching MONDO:0023201 Fryns Smeets Thiry syndrome skos:exactMatch Orphanet:2058 Fryns-Smeets-Thiry syndrome semapv:UnspecifiedMatching MONDO:0023201 Fryns Smeets Thiry syndrome skos:exactMatch UMLS:C5680810 semapv:UnspecifiedMatching MONDO:0023203 Fuchs atrophia gyrata chorioideae et retinae skos:exactMatch MEDGEN:444126 semapv:UnspecifiedMatching MONDO:0023203 Fuchs atrophia gyrata chorioideae et retinae skos:exactMatch UMLS:C2931721 semapv:UnspecifiedMatching MONDO:0023203 Fuchs atrophia gyrata chorioideae et retinae skos:exactMatch mesh:C538071 semapv:UnspecifiedMatching MONDO:0023206 functional pancreatic neuroendocrine tumor skos:exactMatch MEDGEN:310778 semapv:UnspecifiedMatching MONDO:0023206 functional pancreatic neuroendocrine tumor skos:exactMatch NCIT:C45840 Functioning Pancreatic Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO:0023206 functional pancreatic neuroendocrine tumor skos:exactMatch Orphanet:506060 Functioning neuroendocrine tumor of pancreas semapv:UnspecifiedMatching MONDO:0023206 functional pancreatic neuroendocrine tumor skos:exactMatch UMLS:C1708107 semapv:UnspecifiedMatching MONDO:0023209 galactorrhoea-hyperprolactinaemia skos:exactMatch MEDGEN:419279 semapv:UnspecifiedMatching MONDO:0023209 galactorrhoea-hyperprolactinaemia skos:exactMatch UMLS:C2930894 semapv:UnspecifiedMatching MONDO:0023209 galactorrhoea-hyperprolactinaemia skos:exactMatch mesh:C535402 semapv:UnspecifiedMatching MONDO:0023212 Garret-Tripp syndrome skos:exactMatch MEDGEN:419297 semapv:UnspecifiedMatching MONDO:0023212 Garret-Tripp syndrome skos:exactMatch UMLS:C2930965 semapv:UnspecifiedMatching MONDO:0023212 Garret-Tripp syndrome skos:exactMatch mesh:C535646 semapv:UnspecifiedMatching MONDO:0023214 gas bloat syndrome skos:exactMatch MEDGEN:419298 semapv:UnspecifiedMatching MONDO:0023214 gas bloat syndrome skos:exactMatch UMLS:C2930966 semapv:UnspecifiedMatching MONDO:0023214 gas bloat syndrome skos:exactMatch mesh:C535647 semapv:UnspecifiedMatching MONDO:0023227 gestational diabetes insipidus skos:exactMatch DOID:0081057 gestational diabetes insipidus semapv:UnspecifiedMatching MONDO:0023227 gestational diabetes insipidus skos:exactMatch MEDGEN:444359 semapv:UnspecifiedMatching MONDO:0023227 gestational diabetes insipidus skos:exactMatch UMLS:C2932666 semapv:UnspecifiedMatching MONDO:0023227 gestational diabetes insipidus skos:exactMatch mesh:C548014 semapv:UnspecifiedMatching MONDO:0023230 Ghose-Sachdev-Kumar syndrome skos:exactMatch MEDGEN:425476 semapv:UnspecifiedMatching MONDO:0023230 Ghose-Sachdev-Kumar syndrome skos:exactMatch UMLS:C2974016 semapv:UnspecifiedMatching MONDO:0023230 Ghose-Sachdev-Kumar syndrome skos:exactMatch mesh:C537803 semapv:UnspecifiedMatching MONDO:0023232 giant cell myocarditis skos:exactMatch NCIT:C97055 Giant Cell Myocarditis semapv:UnspecifiedMatching MONDO:0023232 giant cell myocarditis skos:exactMatch SCTID:60812006 semapv:UnspecifiedMatching MONDO:0023232 giant cell myocarditis skos:exactMatch icd11.foundation:507103735 Giant cell myocarditis semapv:UnspecifiedMatching MONDO:0023238 giant mammary hamartoma skos:exactMatch MEDGEN:419055 semapv:UnspecifiedMatching MONDO:0023238 giant mammary hamartoma skos:exactMatch UMLS:C2931343 semapv:UnspecifiedMatching MONDO:0023238 giant mammary hamartoma skos:exactMatch mesh:C536818 semapv:UnspecifiedMatching MONDO:0023246 linear porokeratosis skos:exactMatch MEDGEN:81293 semapv:UnspecifiedMatching MONDO:0023246 linear porokeratosis skos:exactMatch SCTID:238631008 semapv:UnspecifiedMatching MONDO:0023246 linear porokeratosis skos:exactMatch UMLS:C0302319 semapv:UnspecifiedMatching MONDO:0023246 linear porokeratosis skos:exactMatch icd11.foundation:1622319802 Linear porokeratosis semapv:UnspecifiedMatching MONDO:0023249 polyarticular juvenile rheumatoid arthritis skos:exactMatch MEDGEN:551885 semapv:UnspecifiedMatching MONDO:0023249 polyarticular juvenile rheumatoid arthritis skos:exactMatch SCTID:445479007 semapv:UnspecifiedMatching MONDO:0023249 polyarticular juvenile rheumatoid arthritis skos:exactMatch UMLS:C0311221 semapv:UnspecifiedMatching MONDO:0023258 glycogen storage disease type 1 due to SLC37A4 mutation skos:exactMatch MEDGEN:419390 semapv:UnspecifiedMatching MONDO:0023258 glycogen storage disease type 1 due to SLC37A4 mutation skos:exactMatch UMLS:C2931345 semapv:UnspecifiedMatching MONDO:0023258 glycogen storage disease type 1 due to SLC37A4 mutation skos:exactMatch mesh:C536831 semapv:UnspecifiedMatching MONDO:0023263 glyceraldehyde-3-phosphate dehydrogenase deficiency skos:exactMatch MEDGEN:224854 semapv:UnspecifiedMatching MONDO:0023263 glyceraldehyde-3-phosphate dehydrogenase deficiency skos:exactMatch UMLS:C1291264 semapv:UnspecifiedMatching MONDO:0023263 glyceraldehyde-3-phosphate dehydrogenase deficiency skos:exactMatch mesh:C536837 semapv:UnspecifiedMatching MONDO:0023267 goldstein hutt syndrome skos:exactMatch MEDGEN:419084 semapv:UnspecifiedMatching MONDO:0023267 goldstein hutt syndrome skos:exactMatch UMLS:C2931465 semapv:UnspecifiedMatching MONDO:0023267 goldstein hutt syndrome skos:exactMatch mesh:C537282 semapv:UnspecifiedMatching MONDO:0023273 pigmented dermatofibrosarcoma protuberans skos:exactMatch MEDGEN:90786 semapv:UnspecifiedMatching MONDO:0023273 pigmented dermatofibrosarcoma protuberans skos:exactMatch NCIT:C9430 Pigmented Dermatofibrosarcoma Protuberans semapv:UnspecifiedMatching MONDO:0023273 pigmented dermatofibrosarcoma protuberans skos:exactMatch SCTID:398670003 semapv:UnspecifiedMatching MONDO:0023273 pigmented dermatofibrosarcoma protuberans skos:exactMatch UMLS:C0334464 semapv:UnspecifiedMatching MONDO:0023275 Graham-Boyle-Troxell syndrome skos:exactMatch MEDGEN:444062 semapv:UnspecifiedMatching MONDO:0023275 Graham-Boyle-Troxell syndrome skos:exactMatch Orphanet:2111 Cystic hamartoma of lung and kidney semapv:UnspecifiedMatching MONDO:0023275 Graham-Boyle-Troxell syndrome skos:exactMatch SCTID:707530009 semapv:UnspecifiedMatching MONDO:0023275 Graham-Boyle-Troxell syndrome skos:exactMatch UMLS:C2931468 semapv:UnspecifiedMatching MONDO:0023275 Graham-Boyle-Troxell syndrome skos:exactMatch mesh:C537292 semapv:UnspecifiedMatching MONDO:0023282 granulomatous hypophysitis skos:exactMatch MEDGEN:878912 semapv:UnspecifiedMatching MONDO:0023282 granulomatous hypophysitis skos:exactMatch UMLS:C4046048 semapv:UnspecifiedMatching MONDO:0023282 granulomatous hypophysitis skos:exactMatch icd11.foundation:1410645474 Granulomatous hypophysitis semapv:UnspecifiedMatching MONDO:0023283 ovarian granulosa cell tumor skos:exactMatch MEDGEN:277970 semapv:UnspecifiedMatching MONDO:0023283 ovarian granulosa cell tumor skos:exactMatch NCIT:C6261 Ovarian Granulosa Cell Tumor semapv:UnspecifiedMatching MONDO:0023283 ovarian granulosa cell tumor skos:exactMatch SCTID:254863004 semapv:UnspecifiedMatching MONDO:0023283 ovarian granulosa cell tumor skos:exactMatch UMLS:C1370419 semapv:UnspecifiedMatching MONDO:0023283 ovarian granulosa cell tumor skos:exactMatch mesh:C537296 semapv:UnspecifiedMatching MONDO:0023286 graphite pneumoconiosis skos:exactMatch MEDGEN:120502 semapv:UnspecifiedMatching MONDO:0023286 graphite pneumoconiosis skos:exactMatch SCTID:17385007 semapv:UnspecifiedMatching MONDO:0023286 graphite pneumoconiosis skos:exactMatch UMLS:C0264439 semapv:UnspecifiedMatching MONDO:0023288 green sandford davison syndrome skos:exactMatch MEDGEN:419160 semapv:UnspecifiedMatching MONDO:0023288 green sandford davison syndrome skos:exactMatch UMLS:C2931777 semapv:UnspecifiedMatching MONDO:0023288 green sandford davison syndrome skos:exactMatch mesh:C538221 semapv:UnspecifiedMatching MONDO:0023297 guttate psoriasis skos:exactMatch ICD10CM:L40.4 Guttate psoriasis semapv:UnspecifiedMatching MONDO:0023297 guttate psoriasis skos:exactMatch MEDGEN:91004 semapv:UnspecifiedMatching MONDO:0023297 guttate psoriasis skos:exactMatch SCTID:37042000 semapv:UnspecifiedMatching MONDO:0023297 guttate psoriasis skos:exactMatch UMLS:C0343052 semapv:UnspecifiedMatching MONDO:0023297 guttate psoriasis skos:exactMatch icd11.foundation:1202062855 Guttate psoriasis semapv:UnspecifiedMatching MONDO:0023305 heavy metal poisoning skos:exactMatch EFO:1001518 semapv:UnspecifiedMatching MONDO:0023305 heavy metal poisoning skos:exactMatch SCTID:85866007 semapv:UnspecifiedMatching MONDO:0023305 heavy metal poisoning skos:exactMatch mesh:D000075322 semapv:UnspecifiedMatching MONDO:0023368 Ho-Kaufman-McAlister syndrome skos:exactMatch MEDGEN:419170 semapv:UnspecifiedMatching MONDO:0023368 Ho-Kaufman-McAlister syndrome skos:exactMatch UMLS:C2931819 semapv:UnspecifiedMatching MONDO:0023368 Ho-Kaufman-McAlister syndrome skos:exactMatch mesh:C538325 semapv:UnspecifiedMatching MONDO:0023369 disorder of facial skeleton skos:exactMatch MEDGEN:712533 semapv:UnspecifiedMatching MONDO:0023369 disorder of facial skeleton skos:exactMatch UMLS:C1290148 semapv:UnspecifiedMatching MONDO:0023388 pityriasis rotunda skos:exactMatch MEDGEN:575364 semapv:UnspecifiedMatching MONDO:0023388 pityriasis rotunda skos:exactMatch SCTID:238639005 semapv:UnspecifiedMatching MONDO:0023388 pityriasis rotunda skos:exactMatch UMLS:C0343060 semapv:UnspecifiedMatching MONDO:0023388 pityriasis rotunda skos:exactMatch icd11.foundation:873448556 Pityriasis rotunda semapv:UnspecifiedMatching MONDO:0023415 congenital candidiasis skos:exactMatch MEDGEN:575892 semapv:UnspecifiedMatching MONDO:0023415 congenital candidiasis skos:exactMatch NCIT:C116811 Congenital Candidiasis semapv:UnspecifiedMatching MONDO:0023415 congenital candidiasis skos:exactMatch SCTID:276672007 semapv:UnspecifiedMatching MONDO:0023415 congenital candidiasis skos:exactMatch UMLS:C0343875 semapv:UnspecifiedMatching MONDO:0023419 hyperprolinemia skos:exactMatch DOID:0080541 hyperprolinemia semapv:UnspecifiedMatching MONDO:0023419 hyperprolinemia skos:exactMatch MEDGEN:75690 semapv:UnspecifiedMatching MONDO:0023419 hyperprolinemia skos:exactMatch SCTID:59655002 semapv:UnspecifiedMatching MONDO:0023419 hyperprolinemia skos:exactMatch UMLS:C0268528 semapv:UnspecifiedMatching MONDO:0023483 infectious myositis skos:exactMatch ICD10CM:M60.0 Infective myositis semapv:UnspecifiedMatching MONDO:0023483 infectious myositis skos:exactMatch MEDGEN:102358 semapv:UnspecifiedMatching MONDO:0023483 infectious myositis skos:exactMatch NCIT:C26984 Infectious Myositis semapv:UnspecifiedMatching MONDO:0023483 infectious myositis skos:exactMatch SCTID:29689003 semapv:UnspecifiedMatching MONDO:0023483 infectious myositis skos:exactMatch UMLS:C0158353 semapv:UnspecifiedMatching MONDO:0023483 infectious myositis skos:exactMatch icd11.foundation:82568660 Infectious myositis semapv:UnspecifiedMatching MONDO:0023510 Jaffer-Beighton syndrome skos:exactMatch MEDGEN:444079 semapv:UnspecifiedMatching MONDO:0023510 Jaffer-Beighton syndrome skos:exactMatch UMLS:C2931533 semapv:UnspecifiedMatching MONDO:0023510 Jaffer-Beighton syndrome skos:exactMatch mesh:C537561 semapv:UnspecifiedMatching MONDO:0023513 Jeune syndrome situs inversus skos:exactMatch MEDGEN:419100 semapv:UnspecifiedMatching MONDO:0023513 Jeune syndrome situs inversus skos:exactMatch UMLS:C2931535 semapv:UnspecifiedMatching MONDO:0023513 Jeune syndrome situs inversus skos:exactMatch mesh:C537572 semapv:UnspecifiedMatching MONDO:0023521 Judge Misch wright syndrome skos:exactMatch MEDGEN:419840 semapv:UnspecifiedMatching MONDO:0023521 Judge Misch wright syndrome skos:exactMatch UMLS:C2931590 semapv:UnspecifiedMatching MONDO:0023521 Judge Misch wright syndrome skos:exactMatch mesh:C537692 semapv:UnspecifiedMatching MONDO:0023528 KSHV inflammatory cytokine syndrome skos:exactMatch MEDGEN:901443 semapv:UnspecifiedMatching MONDO:0023528 KSHV inflammatory cytokine syndrome skos:exactMatch NCIT:C125711 KSHV Inflammatory Cytokine Syndrome semapv:UnspecifiedMatching MONDO:0023528 KSHV inflammatory cytokine syndrome skos:exactMatch UMLS:C4086533 semapv:UnspecifiedMatching MONDO:0023530 kallikrein hypertension skos:exactMatch MEDGEN:257936 semapv:UnspecifiedMatching MONDO:0023530 kallikrein hypertension skos:exactMatch UMLS:C1171349 semapv:UnspecifiedMatching MONDO:0023530 kallikrein hypertension skos:exactMatch mesh:C537707 semapv:UnspecifiedMatching MONDO:0023538 Kaplowitz-Bodurtha syndrome skos:exactMatch MEDGEN:444037 semapv:UnspecifiedMatching MONDO:0023538 Kaplowitz-Bodurtha syndrome skos:exactMatch UMLS:C2931361 semapv:UnspecifiedMatching MONDO:0023538 Kaplowitz-Bodurtha syndrome skos:exactMatch mesh:C536893 semapv:UnspecifiedMatching MONDO:0023540 Kashani-Strom-Utley syndrome skos:exactMatch MEDGEN:419069 semapv:UnspecifiedMatching MONDO:0023540 Kashani-Strom-Utley syndrome skos:exactMatch UMLS:C2931392 semapv:UnspecifiedMatching MONDO:0023540 Kashani-Strom-Utley syndrome skos:exactMatch mesh:C537010 semapv:UnspecifiedMatching MONDO:0023541 Kasznica-Carlson-Coppedge syndrome skos:exactMatch MEDGEN:444045 semapv:UnspecifiedMatching MONDO:0023541 Kasznica-Carlson-Coppedge syndrome skos:exactMatch UMLS:C2931393 semapv:UnspecifiedMatching MONDO:0023541 Kasznica-Carlson-Coppedge syndrome skos:exactMatch mesh:C537011 semapv:UnspecifiedMatching MONDO:0023543 Katsantoni-Papadakou-Lagoyanni syndrome skos:exactMatch MEDGEN:419400 semapv:UnspecifiedMatching MONDO:0023543 Katsantoni-Papadakou-Lagoyanni syndrome skos:exactMatch UMLS:C2931394 semapv:UnspecifiedMatching MONDO:0023543 Katsantoni-Papadakou-Lagoyanni syndrome skos:exactMatch mesh:C537012 semapv:UnspecifiedMatching MONDO:0023551 C1q nephropathy skos:exactMatch MEDGEN:588388 semapv:UnspecifiedMatching MONDO:0023551 C1q nephropathy skos:exactMatch SCTID:236412002 semapv:UnspecifiedMatching MONDO:0023551 C1q nephropathy skos:exactMatch UMLS:C0403434 semapv:UnspecifiedMatching MONDO:0023554 acquired testicular failure skos:exactMatch MEDGEN:588672 semapv:UnspecifiedMatching MONDO:0023554 acquired testicular failure skos:exactMatch NCIT:C131091 Acquired Testicular Failure semapv:UnspecifiedMatching MONDO:0023554 acquired testicular failure skos:exactMatch SCTID:236811002 semapv:UnspecifiedMatching MONDO:0023554 acquired testicular failure skos:exactMatch UMLS:C0403818 semapv:UnspecifiedMatching MONDO:0023557 infective vaginitis skos:exactMatch MEDGEN:140795 semapv:UnspecifiedMatching MONDO:0023557 infective vaginitis skos:exactMatch NCIT:C84353 Vaginal Infection semapv:UnspecifiedMatching MONDO:0023557 infective vaginitis skos:exactMatch SCTID:237091009 semapv:UnspecifiedMatching MONDO:0023557 infective vaginitis skos:exactMatch UMLS:C0404521 semapv:UnspecifiedMatching MONDO:0023557 infective vaginitis skos:exactMatch icd11.foundation:1436361154 Infective vaginitis semapv:UnspecifiedMatching MONDO:0023558 Kocher-debre-Semelaigne syndrome skos:exactMatch icd11.foundation:109007822 Kocher-Debre-Semelaigne syndrome semapv:UnspecifiedMatching MONDO:0023558 Kocher-debre-Semelaigne syndrome skos:exactMatch mesh:C537211 semapv:UnspecifiedMatching MONDO:0023561 Koone-Rizzo-Elias syndrome skos:exactMatch MEDGEN:419791 semapv:UnspecifiedMatching MONDO:0023561 Koone-Rizzo-Elias syndrome skos:exactMatch UMLS:C2931397 semapv:UnspecifiedMatching MONDO:0023561 Koone-Rizzo-Elias syndrome skos:exactMatch mesh:C537023 semapv:UnspecifiedMatching MONDO:0023563 Kotzot-Richter syndrome skos:exactMatch MEDGEN:419793 semapv:UnspecifiedMatching MONDO:0023563 Kotzot-Richter syndrome skos:exactMatch UMLS:C2931399 semapv:UnspecifiedMatching MONDO:0023563 Kotzot-Richter syndrome skos:exactMatch mesh:C537025 semapv:UnspecifiedMatching MONDO:0023567 Kozlowski Brown Hardwick syndrome skos:exactMatch MEDGEN:419822 semapv:UnspecifiedMatching MONDO:0023567 Kozlowski Brown Hardwick syndrome skos:exactMatch UMLS:C2931511 semapv:UnspecifiedMatching MONDO:0023567 Kozlowski Brown Hardwick syndrome skos:exactMatch mesh:C537506 semapv:UnspecifiedMatching MONDO:0023569 Kozlowski Ouvrier syndrome skos:exactMatch MEDGEN:444073 semapv:UnspecifiedMatching MONDO:0023569 Kozlowski Ouvrier syndrome skos:exactMatch UMLS:C2931512 semapv:UnspecifiedMatching MONDO:0023569 Kozlowski Ouvrier syndrome skos:exactMatch mesh:C537508 semapv:UnspecifiedMatching MONDO:0023571 Kozlowski Rafinski Klicharska syndrome skos:exactMatch MEDGEN:419432 semapv:UnspecifiedMatching MONDO:0023571 Kozlowski Rafinski Klicharska syndrome skos:exactMatch UMLS:C2931513 semapv:UnspecifiedMatching MONDO:0023571 Kozlowski Rafinski Klicharska syndrome skos:exactMatch mesh:C537509 semapv:UnspecifiedMatching MONDO:0023573 Kozlowski Warren Fisher syndrome skos:exactMatch MEDGEN:419831 semapv:UnspecifiedMatching MONDO:0023573 Kozlowski Warren Fisher syndrome skos:exactMatch UMLS:C2931546 semapv:UnspecifiedMatching MONDO:0023573 Kozlowski Warren Fisher syndrome skos:exactMatch mesh:C537614 semapv:UnspecifiedMatching MONDO:0023575 Krauss Herman Holmes syndrome skos:exactMatch MEDGEN:419832 semapv:UnspecifiedMatching MONDO:0023575 Krauss Herman Holmes syndrome skos:exactMatch UMLS:C2931549 semapv:UnspecifiedMatching MONDO:0023575 Krauss Herman Holmes syndrome skos:exactMatch mesh:C537618 semapv:UnspecifiedMatching MONDO:0023577 Krieble Bixler syndrome skos:exactMatch MEDGEN:419107 semapv:UnspecifiedMatching MONDO:0023577 Krieble Bixler syndrome skos:exactMatch UMLS:C2931550 semapv:UnspecifiedMatching MONDO:0023577 Krieble Bixler syndrome skos:exactMatch mesh:C537619 semapv:UnspecifiedMatching MONDO:0023579 Kuster Majewski Hammerstein syndrome skos:exactMatch MEDGEN:444132 semapv:UnspecifiedMatching MONDO:0023579 Kuster Majewski Hammerstein syndrome skos:exactMatch UMLS:C2931740 semapv:UnspecifiedMatching MONDO:0023579 Kuster Majewski Hammerstein syndrome skos:exactMatch mesh:C538125 semapv:UnspecifiedMatching MONDO:0023581 Kuster syndrome skos:exactMatch MEDGEN:419150 semapv:UnspecifiedMatching MONDO:0023581 Kuster syndrome skos:exactMatch UMLS:C2931741 semapv:UnspecifiedMatching MONDO:0023581 Kuster syndrome skos:exactMatch mesh:C538126 semapv:UnspecifiedMatching MONDO:0023595 congenital myotonic dystrophy skos:exactMatch MEDGEN:98051 semapv:UnspecifiedMatching MONDO:0023595 congenital myotonic dystrophy skos:exactMatch NCIT:C123308 Congenital Myotonic Dystrophy semapv:UnspecifiedMatching MONDO:0023595 congenital myotonic dystrophy skos:exactMatch UMLS:C0410226 semapv:UnspecifiedMatching MONDO:0023595 congenital myotonic dystrophy skos:exactMatch icd11.foundation:599230687 Congenital myotonic dystrophy semapv:UnspecifiedMatching MONDO:0023597 laryngeal papillomatosis skos:exactMatch MEDGEN:96006 semapv:UnspecifiedMatching MONDO:0023597 laryngeal papillomatosis skos:exactMatch NCIT:C157733 Laryngeal Papillomatosis semapv:UnspecifiedMatching MONDO:0023597 laryngeal papillomatosis skos:exactMatch SCTID:232457008 semapv:UnspecifiedMatching MONDO:0023597 laryngeal papillomatosis skos:exactMatch UMLS:C0396072 semapv:UnspecifiedMatching MONDO:0023597 laryngeal papillomatosis skos:exactMatch mesh:C537876 semapv:UnspecifiedMatching MONDO:0023599 mesomelic dysplasia skos:exactMatch MEDGEN:593147 semapv:UnspecifiedMatching MONDO:0023599 mesomelic dysplasia skos:exactMatch NCIT:C121156 Mesomelic Dysplasia semapv:UnspecifiedMatching MONDO:0023599 mesomelic dysplasia skos:exactMatch SCTID:205473008 semapv:UnspecifiedMatching MONDO:0023599 mesomelic dysplasia skos:exactMatch UMLS:C0410536 semapv:UnspecifiedMatching MONDO:0023601 non-classic congenital adrenal hyperplasia skos:exactMatch MEDGEN:90982 semapv:UnspecifiedMatching MONDO:0023601 non-classic congenital adrenal hyperplasia skos:exactMatch NCIT:C131442 Non-Classic Congenital Adrenal Hyperplasia semapv:UnspecifiedMatching MONDO:0023601 non-classic congenital adrenal hyperplasia skos:exactMatch UMLS:C0342467 semapv:UnspecifiedMatching MONDO:0023601 non-classic congenital adrenal hyperplasia skos:exactMatch mesh:C537877 semapv:UnspecifiedMatching MONDO:0023603 hereditary disorder of connective tissue skos:exactMatch MEDGEN:473110 semapv:UnspecifiedMatching MONDO:0023603 hereditary disorder of connective tissue skos:exactMatch NCIT:C97075 Hereditary Connective Tissue Disorder semapv:UnspecifiedMatching MONDO:0023603 hereditary disorder of connective tissue skos:exactMatch SCTID:363045008 semapv:UnspecifiedMatching MONDO:0023603 hereditary disorder of connective tissue skos:exactMatch UMLS:C0410787 semapv:UnspecifiedMatching MONDO:0023605 Laugier-Hunziker syndrome skos:exactMatch MEDGEN:98027 semapv:UnspecifiedMatching MONDO:0023605 Laugier-Hunziker syndrome skos:exactMatch SCTID:238706002 semapv:UnspecifiedMatching MONDO:0023605 Laugier-Hunziker syndrome skos:exactMatch UMLS:C0406425 semapv:UnspecifiedMatching MONDO:0023607 Laurence-Prosser-Rocker syndrome skos:exactMatch MEDGEN:419133 semapv:UnspecifiedMatching MONDO:0023607 Laurence-Prosser-Rocker syndrome skos:exactMatch UMLS:C2931651 semapv:UnspecifiedMatching MONDO:0023607 Laurence-Prosser-Rocker syndrome skos:exactMatch mesh:C537882 semapv:UnspecifiedMatching MONDO:0023609 le Marec-Bracq-Picaud syndrome skos:exactMatch MEDGEN:444043 semapv:UnspecifiedMatching MONDO:0023609 le Marec-Bracq-Picaud syndrome skos:exactMatch UMLS:C2931385 semapv:UnspecifiedMatching MONDO:0023609 le Marec-Bracq-Picaud syndrome skos:exactMatch mesh:C536997 semapv:UnspecifiedMatching MONDO:0023619 lentigo maligna melanoma skos:exactMatch MEDGEN:439437 semapv:UnspecifiedMatching MONDO:0023619 lentigo maligna melanoma skos:exactMatch NCIT:C9151 Lentigo Maligna Melanoma semapv:UnspecifiedMatching MONDO:0023619 lentigo maligna melanoma skos:exactMatch SCTID:302837001 semapv:UnspecifiedMatching MONDO:0023619 lentigo maligna melanoma skos:exactMatch UMLS:C2739810 semapv:UnspecifiedMatching MONDO:0023619 lentigo maligna melanoma skos:exactMatch icd11.foundation:2011782924 semapv:UnspecifiedMatching MONDO:0023628 levator syndrome skos:exactMatch MEDGEN:98071 semapv:UnspecifiedMatching MONDO:0023628 levator syndrome skos:exactMatch NCIT:C113615 Proctalgia Fugax semapv:UnspecifiedMatching MONDO:0023628 levator syndrome skos:exactMatch SCTID:62647006 semapv:UnspecifiedMatching MONDO:0023628 levator syndrome skos:exactMatch UMLS:C0423738 semapv:UnspecifiedMatching MONDO:0023628 levator syndrome skos:exactMatch icd11.foundation:1042451642 Levator ani syndrome semapv:UnspecifiedMatching MONDO:0023628 levator syndrome skos:exactMatch mesh:C535890 semapv:UnspecifiedMatching MONDO:0023642 Weber syndrome skos:exactMatch MEDGEN:96812 semapv:UnspecifiedMatching MONDO:0023642 Weber syndrome skos:exactMatch SCTID:24654003 semapv:UnspecifiedMatching MONDO:0023642 Weber syndrome skos:exactMatch UMLS:C0455717 semapv:UnspecifiedMatching MONDO:0023642 Weber syndrome skos:exactMatch icd11.foundation:1609214113 Weber syndrome semapv:UnspecifiedMatching MONDO:0023644 lip and oral cavity carcinoma skos:exactMatch MEDGEN:67387 semapv:UnspecifiedMatching MONDO:0023644 lip and oral cavity carcinoma skos:exactMatch NCIT:C9315 Lip and Oral Cavity Carcinoma semapv:UnspecifiedMatching MONDO:0023644 lip and oral cavity carcinoma skos:exactMatch UMLS:C0220641 semapv:UnspecifiedMatching MONDO:0023646 lipodermatosclerosis skos:exactMatch MEDGEN:140802 semapv:UnspecifiedMatching MONDO:0023646 lipodermatosclerosis skos:exactMatch SCTID:410016009 semapv:UnspecifiedMatching MONDO:0023646 lipodermatosclerosis skos:exactMatch UMLS:C0406500 semapv:UnspecifiedMatching MONDO:0023646 lipodermatosclerosis skos:exactMatch icd11.foundation:473315619 Lipodermatosclerosis semapv:UnspecifiedMatching MONDO:0023646 lipodermatosclerosis skos:exactMatch mesh:C537026 semapv:UnspecifiedMatching MONDO:0023650 littoral cell angioma of the spleen skos:exactMatch MEDGEN:351507 semapv:UnspecifiedMatching MONDO:0023650 littoral cell angioma of the spleen skos:exactMatch NCIT:C200524 Littoral Cell Angioma semapv:UnspecifiedMatching MONDO:0023650 littoral cell angioma of the spleen skos:exactMatch SCTID:418040002 semapv:UnspecifiedMatching MONDO:0023650 littoral cell angioma of the spleen skos:exactMatch UMLS:C1627365 semapv:UnspecifiedMatching MONDO:0023650 littoral cell angioma of the spleen skos:exactMatch mesh:C537031 semapv:UnspecifiedMatching MONDO:0023655 immunodeficiency 14b, autosomal recessive skos:exactMatch MEDGEN:1787468 semapv:UnspecifiedMatching MONDO:0023655 immunodeficiency 14b, autosomal recessive skos:exactMatch OMIM:619281 immunodeficiency 14b, autosomal recessive semapv:UnspecifiedMatching MONDO:0023655 immunodeficiency 14b, autosomal recessive skos:exactMatch UMLS:C5543301 semapv:UnspecifiedMatching MONDO:0023657 intellectual developmental disorder, autosomal dominant 65 skos:exactMatch DOID:0061038 autosomal dominant intellectual developmental disorder 65 semapv:UnspecifiedMatching MONDO:0023657 intellectual developmental disorder, autosomal dominant 65 skos:exactMatch MEDGEN:1787923 semapv:UnspecifiedMatching MONDO:0023657 intellectual developmental disorder, autosomal dominant 65 skos:exactMatch OMIM:619320 intellectual developmental disorder, autosomal dominant 65 semapv:UnspecifiedMatching MONDO:0023657 intellectual developmental disorder, autosomal dominant 65 skos:exactMatch UMLS:C5543371 semapv:UnspecifiedMatching MONDO:0023659 developmental and epileptic encephalopathy 96 skos:exactMatch DOID:0070377 developmental and epileptic encephalopathy 96 semapv:UnspecifiedMatching MONDO:0023659 developmental and epileptic encephalopathy 96 skos:exactMatch MEDGEN:1780167 semapv:UnspecifiedMatching MONDO:0023659 developmental and epileptic encephalopathy 96 skos:exactMatch OMIM:619340 developmental and epileptic encephalopathy 96 semapv:UnspecifiedMatching MONDO:0023659 developmental and epileptic encephalopathy 96 skos:exactMatch UMLS:C5543446 semapv:UnspecifiedMatching MONDO:0023660 angioedema, hereditary, 6 skos:exactMatch MEDGEN:1785484 semapv:UnspecifiedMatching MONDO:0023660 angioedema, hereditary, 6 skos:exactMatch OMIM:619363 angioedema, hereditary, 6 semapv:UnspecifiedMatching MONDO:0023660 angioedema, hereditary, 6 skos:exactMatch UMLS:C5543516 semapv:UnspecifiedMatching MONDO:0023662 lymphatic malformation 10 skos:exactMatch MEDGEN:1780452 semapv:UnspecifiedMatching MONDO:0023662 lymphatic malformation 10 skos:exactMatch OMIM:619369 lymphatic malformation 10 semapv:UnspecifiedMatching MONDO:0023662 lymphatic malformation 10 skos:exactMatch UMLS:C5543531 semapv:UnspecifiedMatching MONDO:0023663 obsolete macrocephaly mesodermal hamartoma spectrum skos:exactMatch mesh:C537716 semapv:UnspecifiedMatching MONDO:0023664 spermatogenic failure 54 skos:exactMatch DOID:0112335 spermatogenic failure 54 semapv:UnspecifiedMatching MONDO:0023664 spermatogenic failure 54 skos:exactMatch MEDGEN:1782493 semapv:UnspecifiedMatching MONDO:0023664 spermatogenic failure 54 skos:exactMatch OMIM:619379 spermatogenic failure 54 semapv:UnspecifiedMatching MONDO:0023664 spermatogenic failure 54 skos:exactMatch UMLS:C5543570 semapv:UnspecifiedMatching MONDO:0023670 Bardet-Biedl syndrome 20 skos:exactMatch DOID:0081009 Bardet-Biedl syndrome 20 semapv:UnspecifiedMatching MONDO:0023670 Bardet-Biedl syndrome 20 skos:exactMatch MEDGEN:934674 semapv:UnspecifiedMatching MONDO:0023670 Bardet-Biedl syndrome 20 skos:exactMatch OMIM:619471 bardet-biedl syndrome 20 semapv:UnspecifiedMatching MONDO:0023670 Bardet-Biedl syndrome 20 skos:exactMatch UMLS:C4310707 semapv:UnspecifiedMatching MONDO:0023671 oculopharyngodistal myopathy 3 skos:exactMatch DOID:0081299 oculopharyngodistal myopathy 3 semapv:UnspecifiedMatching MONDO:0023671 oculopharyngodistal myopathy 3 skos:exactMatch MEDGEN:1794166 semapv:UnspecifiedMatching MONDO:0023671 oculopharyngodistal myopathy 3 skos:exactMatch OMIM:619473 oculopharyngodistal myopathy 3 semapv:UnspecifiedMatching MONDO:0023671 oculopharyngodistal myopathy 3 skos:exactMatch UMLS:C5561956 semapv:UnspecifiedMatching MONDO:0023679 hematohidrosis skos:exactMatch MEDGEN:633305 semapv:UnspecifiedMatching MONDO:0023679 hematohidrosis skos:exactMatch SCTID:238757003 semapv:UnspecifiedMatching MONDO:0023679 hematohidrosis skos:exactMatch UMLS:C0473554 semapv:UnspecifiedMatching MONDO:0023682 tympanic paraganglioma skos:exactMatch MEDGEN:105375 semapv:UnspecifiedMatching MONDO:0023682 tympanic paraganglioma skos:exactMatch NCIT:C8428 Tympanic Paraganglioma semapv:UnspecifiedMatching MONDO:0023682 tympanic paraganglioma skos:exactMatch SCTID:253031000 semapv:UnspecifiedMatching MONDO:0023682 tympanic paraganglioma skos:exactMatch UMLS:C0474820 semapv:UnspecifiedMatching MONDO:0023682 tympanic paraganglioma skos:exactMatch mesh:D043604 semapv:UnspecifiedMatching MONDO:0023691 maple syrup urine disease type 1A skos:exactMatch DOID:0061203 maple syrup urine disease type IA semapv:UnspecifiedMatching MONDO:0023691 maple syrup urine disease type 1A skos:exactMatch MEDGEN:383668 semapv:UnspecifiedMatching MONDO:0023691 maple syrup urine disease type 1A skos:exactMatch OMIM:248600 maple syrup urine disease, type 1a semapv:UnspecifiedMatching MONDO:0023691 maple syrup urine disease type 1A skos:exactMatch UMLS:C1855369 semapv:UnspecifiedMatching MONDO:0023692 maple syrup urine disease type 1B skos:exactMatch DOID:0061206 maple syrup urine disease type IB semapv:UnspecifiedMatching MONDO:0023692 maple syrup urine disease type 1B skos:exactMatch MEDGEN:443951 semapv:UnspecifiedMatching MONDO:0023692 maple syrup urine disease type 1B skos:exactMatch OMIM:620698 maple syrup urine disease, type 1b semapv:UnspecifiedMatching MONDO:0023692 maple syrup urine disease type 1B skos:exactMatch UMLS:C2930990 semapv:UnspecifiedMatching MONDO:0023693 maple syrup urine disease type 2 skos:exactMatch DOID:0061207 maple syrup urine disease type II semapv:UnspecifiedMatching MONDO:0023693 maple syrup urine disease type 2 skos:exactMatch MEDGEN:343337 semapv:UnspecifiedMatching MONDO:0023693 maple syrup urine disease type 2 skos:exactMatch OMIM:620699 maple syrup urine disease, type 2 semapv:UnspecifiedMatching MONDO:0023693 maple syrup urine disease type 2 skos:exactMatch UMLS:C1855371 semapv:UnspecifiedMatching MONDO:0023696 Marinesco-Sjogren-like syndrome skos:exactMatch MEDGEN:163207 semapv:UnspecifiedMatching MONDO:0023696 Marinesco-Sjogren-like syndrome skos:exactMatch UMLS:C0796036 semapv:UnspecifiedMatching MONDO:0023696 Marinesco-Sjogren-like syndrome skos:exactMatch mesh:C535913 semapv:UnspecifiedMatching MONDO:0023699 Maroteaux Fonfria syndrome skos:exactMatch MEDGEN:418985 semapv:UnspecifiedMatching MONDO:0023699 Maroteaux Fonfria syndrome skos:exactMatch UMLS:C2931088 semapv:UnspecifiedMatching MONDO:0023699 Maroteaux Fonfria syndrome skos:exactMatch mesh:C536023 semapv:UnspecifiedMatching MONDO:0023704 Martinez Monasterio Pinheiro syndrome skos:exactMatch MEDGEN:419330 semapv:UnspecifiedMatching MONDO:0023704 Martinez Monasterio Pinheiro syndrome skos:exactMatch UMLS:C2931089 semapv:UnspecifiedMatching MONDO:0023704 Martinez Monasterio Pinheiro syndrome skos:exactMatch mesh:C536027 semapv:UnspecifiedMatching MONDO:0023726 mediastinal yolk sac tumor skos:exactMatch MEDGEN:233176 semapv:UnspecifiedMatching MONDO:0023726 mediastinal yolk sac tumor skos:exactMatch NCIT:C6443 Mediastinal Yolk Sac Tumor semapv:UnspecifiedMatching MONDO:0023726 mediastinal yolk sac tumor skos:exactMatch UMLS:C1334683 semapv:UnspecifiedMatching MONDO:0023757 meralgia paresthetica skos:exactMatch ICD10CM:G57.1 Meralgia paresthetica semapv:UnspecifiedMatching MONDO:0023757 meralgia paresthetica skos:exactMatch MEDGEN:101817 semapv:UnspecifiedMatching MONDO:0023757 meralgia paresthetica skos:exactMatch SCTID:85007004 semapv:UnspecifiedMatching MONDO:0023757 meralgia paresthetica skos:exactMatch UMLS:C0152110 semapv:UnspecifiedMatching MONDO:0023757 meralgia paresthetica skos:exactMatch mesh:C537458 semapv:UnspecifiedMatching MONDO:0023807 obsolete midphalangeal hair skos:exactMatch OMIM:157200 midphalangeal hair semapv:UnspecifiedMatching MONDO:0023807 obsolete midphalangeal hair skos:exactMatch mesh:C537471 semapv:UnspecifiedMatching MONDO:0023809 Milner-Khallouf-Gibson syndrome skos:exactMatch MEDGEN:419429 semapv:UnspecifiedMatching MONDO:0023809 Milner-Khallouf-Gibson syndrome skos:exactMatch UMLS:C2931503 semapv:UnspecifiedMatching MONDO:0023809 Milner-Khallouf-Gibson syndrome skos:exactMatch mesh:C537473 semapv:UnspecifiedMatching MONDO:0023833 multifocal choroiditis skos:exactMatch MEDGEN:288551 semapv:UnspecifiedMatching MONDO:0023833 multifocal choroiditis skos:exactMatch SCTID:414783007 semapv:UnspecifiedMatching MONDO:0023833 multifocal choroiditis skos:exactMatch UMLS:C1533060 semapv:UnspecifiedMatching MONDO:0023833 multifocal choroiditis skos:exactMatch icd11.foundation:1197219411 Multifocal choroiditis semapv:UnspecifiedMatching MONDO:0023833 multifocal choroiditis skos:exactMatch mesh:D000080364 semapv:UnspecifiedMatching MONDO:0023865 corneal infection skos:exactMatch MEDGEN:152673 semapv:UnspecifiedMatching MONDO:0023865 corneal infection skos:exactMatch NCIT:C83813 Corneal Infection semapv:UnspecifiedMatching MONDO:0023865 corneal infection skos:exactMatch Orphanet:519278 Infective keratitis semapv:UnspecifiedMatching MONDO:0023865 corneal infection skos:exactMatch SCTID:312428002 semapv:UnspecifiedMatching MONDO:0023865 corneal infection skos:exactMatch UMLS:C0729777 semapv:UnspecifiedMatching MONDO:0023868 melanoma associated retinopathy skos:exactMatch MEDGEN:452708 semapv:UnspecifiedMatching MONDO:0023868 melanoma associated retinopathy skos:exactMatch SCTID:312941005 semapv:UnspecifiedMatching MONDO:0023868 melanoma associated retinopathy skos:exactMatch UMLS:C0730308 semapv:UnspecifiedMatching MONDO:0023868 melanoma associated retinopathy skos:exactMatch icd11.foundation:2011212045 Melanoma associated retinopathy semapv:UnspecifiedMatching MONDO:0023873 obsolete Noonan-like/multiple giant cell lesion syndrome skos:exactMatch OMIM:163955 semapv:UnspecifiedMatching MONDO:0023880 WHIM syndrome skos:exactMatch MEDGEN:96875 semapv:UnspecifiedMatching MONDO:0023880 WHIM syndrome skos:exactMatch OMIMPS:193670 WHIM syndrome semapv:UnspecifiedMatching MONDO:0023880 WHIM syndrome skos:exactMatch UMLS:C0472817 semapv:UnspecifiedMatching MONDO:0023910 Martsolf syndrome skos:exactMatch MEDGEN:208658 semapv:UnspecifiedMatching MONDO:0023910 Martsolf syndrome skos:exactMatch OMIMPS:212720 Martsolf syndrome semapv:UnspecifiedMatching MONDO:0023910 Martsolf syndrome skos:exactMatch UMLS:C0796037 semapv:UnspecifiedMatching MONDO:0023961 visceral neuropathy, familial skos:exactMatch MEDGEN:540202 semapv:UnspecifiedMatching MONDO:0023961 visceral neuropathy, familial skos:exactMatch OMIMPS:243180 Visceral neuropathy, familial semapv:UnspecifiedMatching MONDO:0023961 visceral neuropathy, familial skos:exactMatch UMLS:C0266834 semapv:UnspecifiedMatching MONDO:0024145 obsolete Pierre Robin syndrome associated with collagen disease skos:exactMatch Orphanet:138041 Pierre Robin syndrome associated with collagen disease semapv:UnspecifiedMatching MONDO:0024147 obsolete Pierre Robin syndrome associated with a chromosomal anomaly skos:exactMatch Orphanet:138047 Pierre Robin syndrome associated with a chromosomal anomaly semapv:UnspecifiedMatching MONDO:0024148 obsolete Pierre Robin syndrome associated with branchial archs anomalies skos:exactMatch Orphanet:138050 Pierre Robin syndrome associated with branchial archs anomalies semapv:UnspecifiedMatching MONDO:0024149 obsolete Pierre Robin syndrome associated with bone disease skos:exactMatch Orphanet:138055 Pierre Robin syndrome associated with bone disease semapv:UnspecifiedMatching MONDO:0024182 dry beriberi skos:exactMatch DOID:0070318 dry beriberi semapv:UnspecifiedMatching MONDO:0024182 dry beriberi skos:exactMatch ICD10CM:E51.11 Dry beriberi semapv:UnspecifiedMatching MONDO:0024182 dry beriberi skos:exactMatch MEDGEN:541401 semapv:UnspecifiedMatching MONDO:0024182 dry beriberi skos:exactMatch UMLS:C0268670 semapv:UnspecifiedMatching MONDO:0024182 dry beriberi skos:exactMatch icd11.foundation:582233757 Dry beriberi semapv:UnspecifiedMatching MONDO:0024183 wet beriberi skos:exactMatch DOID:0070317 wet beriberi semapv:UnspecifiedMatching MONDO:0024183 wet beriberi skos:exactMatch ICD10CM:E51.12 Wet beriberi semapv:UnspecifiedMatching MONDO:0024183 wet beriberi skos:exactMatch MEDGEN:541400 semapv:UnspecifiedMatching MONDO:0024183 wet beriberi skos:exactMatch UMLS:C0268669 semapv:UnspecifiedMatching MONDO:0024183 wet beriberi skos:exactMatch icd11.foundation:1753713002 Wet beriberi semapv:UnspecifiedMatching MONDO:0024189 neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset skos:exactMatch OMIMPS:616263 Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset semapv:UnspecifiedMatching MONDO:0024193 portal hypertension, noncirrhotic skos:exactMatch MEDGEN:934702 semapv:UnspecifiedMatching MONDO:0024193 portal hypertension, noncirrhotic skos:exactMatch OMIMPS:617068 Portal hypertension, noncirrhotic semapv:UnspecifiedMatching MONDO:0024193 portal hypertension, noncirrhotic skos:exactMatch UMLS:C4310735 semapv:UnspecifiedMatching MONDO:0024227 miliaria pustulosa skos:exactMatch DOID:0070319 miliaria pustulosa semapv:UnspecifiedMatching MONDO:0024227 miliaria pustulosa skos:exactMatch MEDGEN:507949 semapv:UnspecifiedMatching MONDO:0024227 miliaria pustulosa skos:exactMatch SCTID:26988005 semapv:UnspecifiedMatching MONDO:0024227 miliaria pustulosa skos:exactMatch UMLS:C0026114 semapv:UnspecifiedMatching MONDO:0024228 miliaria profunda skos:exactMatch DOID:0070320 miliaria profunda semapv:UnspecifiedMatching MONDO:0024228 miliaria profunda skos:exactMatch ICD10CM:L74.2 Miliaria profunda semapv:UnspecifiedMatching MONDO:0024228 miliaria profunda skos:exactMatch MEDGEN:537908 semapv:UnspecifiedMatching MONDO:0024228 miliaria profunda skos:exactMatch SCTID:47317002 semapv:UnspecifiedMatching MONDO:0024228 miliaria profunda skos:exactMatch UMLS:C0263468 semapv:UnspecifiedMatching MONDO:0024228 miliaria profunda skos:exactMatch icd11.foundation:1540615212 Miliaria profunda semapv:UnspecifiedMatching MONDO:0024229 miliaria crystallina skos:exactMatch DOID:0070321 miliaria crystallina semapv:UnspecifiedMatching MONDO:0024229 miliaria crystallina skos:exactMatch ICD10CM:L74.1 Miliaria crystallina semapv:UnspecifiedMatching MONDO:0024229 miliaria crystallina skos:exactMatch MEDGEN:757640 semapv:UnspecifiedMatching MONDO:0024229 miliaria crystallina skos:exactMatch UMLS:C3241961 semapv:UnspecifiedMatching MONDO:0024229 miliaria crystallina skos:exactMatch icd11.foundation:796835029 Miliaria crystallina semapv:UnspecifiedMatching MONDO:0024235 Brenner tumor skos:exactMatch MEDGEN:2345 semapv:UnspecifiedMatching MONDO:0024235 Brenner tumor skos:exactMatch NCIT:C39954 Brenner Tumor semapv:UnspecifiedMatching MONDO:0024235 Brenner tumor skos:exactMatch UMLS:C0006160 semapv:UnspecifiedMatching MONDO:0024235 Brenner tumor skos:exactMatch mesh:D001948 semapv:UnspecifiedMatching MONDO:0024237 inherited neurodegenerative disorder skos:exactMatch MEDGEN:1825988 semapv:UnspecifiedMatching MONDO:0024237 inherited neurodegenerative disorder skos:exactMatch NCIT:C97073 Hereditary Neurodegenerative Disorder semapv:UnspecifiedMatching MONDO:0024237 inherited neurodegenerative disorder skos:exactMatch Orphanet:183500 Genetic neurodegenerative disease semapv:UnspecifiedMatching MONDO:0024237 inherited neurodegenerative disorder skos:exactMatch UMLS:C5680568 semapv:UnspecifiedMatching MONDO:0024237 inherited neurodegenerative disorder skos:exactMatch mesh:D020271 semapv:UnspecifiedMatching MONDO:0024238 cerebral degeneration skos:exactMatch MEDGEN:56343 semapv:UnspecifiedMatching MONDO:0024238 cerebral degeneration skos:exactMatch SCTID:418143002 semapv:UnspecifiedMatching MONDO:0024238 cerebral degeneration skos:exactMatch UMLS:C0154671 semapv:UnspecifiedMatching MONDO:0024239 congenital anomaly of cardiovascular system skos:exactMatch MEDGEN:777113 semapv:UnspecifiedMatching MONDO:0024239 congenital anomaly of cardiovascular system skos:exactMatch NCIT:C35729 Congenital Cardiovascular Abnormality semapv:UnspecifiedMatching MONDO:0024239 congenital anomaly of cardiovascular system skos:exactMatch SCTID:9904008 semapv:UnspecifiedMatching MONDO:0024239 congenital anomaly of cardiovascular system skos:exactMatch UMLS:C3665496 semapv:UnspecifiedMatching MONDO:0024240 eccrine carcinoma skos:exactMatch DOID:4920 eccrine adenocarcinoma semapv:UnspecifiedMatching MONDO:0024240 eccrine carcinoma skos:exactMatch MEDGEN:690083 semapv:UnspecifiedMatching MONDO:0024240 eccrine carcinoma skos:exactMatch NCIT:C27255 Eccrine Carcinoma semapv:UnspecifiedMatching MONDO:0024240 eccrine carcinoma skos:exactMatch SCTID:400173004 semapv:UnspecifiedMatching MONDO:0024240 eccrine carcinoma skos:exactMatch UMLS:C1266066 semapv:UnspecifiedMatching MONDO:0024245 ductal eccrine adenocarcinoma skos:exactMatch DOID:5570 malignant acrospiroma semapv:UnspecifiedMatching MONDO:0024245 ductal eccrine adenocarcinoma skos:exactMatch MEDGEN:266048 semapv:UnspecifiedMatching MONDO:0024245 ductal eccrine adenocarcinoma skos:exactMatch NCIT:C43345 Ductal Eccrine Adenocarcinoma semapv:UnspecifiedMatching MONDO:0024245 ductal eccrine adenocarcinoma skos:exactMatch SCTID:403939009 semapv:UnspecifiedMatching MONDO:0024245 ductal eccrine adenocarcinoma skos:exactMatch UMLS:C1260964 semapv:UnspecifiedMatching MONDO:0024246 syringofibroadenoma skos:exactMatch MEDGEN:266096 semapv:UnspecifiedMatching MONDO:0024246 syringofibroadenoma skos:exactMatch NCIT:C43356 Syringofibroadenoma semapv:UnspecifiedMatching MONDO:0024246 syringofibroadenoma skos:exactMatch SCTID:403936002 semapv:UnspecifiedMatching MONDO:0024246 syringofibroadenoma skos:exactMatch UMLS:C1266060 semapv:UnspecifiedMatching MONDO:0024247 benign eccrine neoplasm skos:exactMatch MEDGEN:231934 semapv:UnspecifiedMatching MONDO:0024247 benign eccrine neoplasm skos:exactMatch NCIT:C6797 Benign Eccrine Neoplasm semapv:UnspecifiedMatching MONDO:0024247 benign eccrine neoplasm skos:exactMatch SCTID:254715009 semapv:UnspecifiedMatching MONDO:0024247 benign eccrine neoplasm skos:exactMatch UMLS:C1332493 semapv:UnspecifiedMatching MONDO:0024248 obsolete pityriasis skos:exactMatch SCTID:34630004 semapv:UnspecifiedMatching MONDO:0024248 obsolete pityriasis skos:exactMatch mesh:D010915 semapv:UnspecifiedMatching MONDO:0024249 pityriasis lichenoides skos:exactMatch MEDGEN:102482 semapv:UnspecifiedMatching MONDO:0024249 pityriasis lichenoides skos:exactMatch NCIT:C85013 Pityriasis Lichenoides semapv:UnspecifiedMatching MONDO:0024249 pityriasis lichenoides skos:exactMatch SCTID:200983001 semapv:UnspecifiedMatching MONDO:0024249 pityriasis lichenoides skos:exactMatch UMLS:C0162853 semapv:UnspecifiedMatching MONDO:0024249 pityriasis lichenoides skos:exactMatch icd11.foundation:266281219 Pityriasis lichenoides semapv:UnspecifiedMatching MONDO:0024249 pityriasis lichenoides skos:exactMatch mesh:D017514 semapv:UnspecifiedMatching MONDO:0024250 acute lichenoid pityriasis skos:exactMatch MEDGEN:57997 semapv:UnspecifiedMatching MONDO:0024250 acute lichenoid pityriasis skos:exactMatch SCTID:86487001 semapv:UnspecifiedMatching MONDO:0024250 acute lichenoid pityriasis skos:exactMatch UMLS:C0162852 semapv:UnspecifiedMatching MONDO:0024251 Minamata disease skos:exactMatch MEDGEN:43368 semapv:UnspecifiedMatching MONDO:0024251 Minamata disease skos:exactMatch SCTID:39640004 semapv:UnspecifiedMatching MONDO:0024251 Minamata disease skos:exactMatch UMLS:C0086626 semapv:UnspecifiedMatching MONDO:0024257 hereditary motor neuron disease skos:exactMatch MEDGEN:78728 semapv:UnspecifiedMatching MONDO:0024257 hereditary motor neuron disease skos:exactMatch Orphanet:98505 Genetic motor neuron disease semapv:UnspecifiedMatching MONDO:0024257 hereditary motor neuron disease skos:exactMatch SCTID:49793008 semapv:UnspecifiedMatching MONDO:0024257 hereditary motor neuron disease skos:exactMatch UMLS:C0270763 semapv:UnspecifiedMatching MONDO:0024262 massive neonatal aspiration syndrome skos:exactMatch MEDGEN:542567 semapv:UnspecifiedMatching MONDO:0024262 massive neonatal aspiration syndrome skos:exactMatch SCTID:10269001 semapv:UnspecifiedMatching MONDO:0024262 massive neonatal aspiration syndrome skos:exactMatch UMLS:C0270152 semapv:UnspecifiedMatching MONDO:0024263 neonatal aspiration syndrome skos:exactMatch MEDGEN:578767 semapv:UnspecifiedMatching MONDO:0024263 neonatal aspiration syndrome skos:exactMatch NCIT:C118312 Neonatal Aspiration Syndrome semapv:UnspecifiedMatching MONDO:0024263 neonatal aspiration syndrome skos:exactMatch SCTID:276533002 semapv:UnspecifiedMatching MONDO:0024263 neonatal aspiration syndrome skos:exactMatch UMLS:C0349468 semapv:UnspecifiedMatching MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:exactMatch DOID:0070124 congenital nongoitrous hypothyroidism 2 semapv:UnspecifiedMatching MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:exactMatch MEDGEN:358389 semapv:UnspecifiedMatching MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:exactMatch OMIM:218700 hypothyroidism, congenital, nongoitrous, 2 semapv:UnspecifiedMatching MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:exactMatch UMLS:C1869118 semapv:UnspecifiedMatching MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:exactMatch mesh:C566852 semapv:UnspecifiedMatching MONDO:0024265 Duane syndrome type 1 skos:exactMatch DOID:0061027 Duane retraction syndrome 1 semapv:UnspecifiedMatching MONDO:0024265 Duane syndrome type 1 skos:exactMatch MEDGEN:201329 semapv:UnspecifiedMatching MONDO:0024265 Duane syndrome type 1 skos:exactMatch OMIM:126800 duane retraction syndrome 1 semapv:UnspecifiedMatching MONDO:0024265 Duane syndrome type 1 skos:exactMatch SCTID:128082002 semapv:UnspecifiedMatching MONDO:0024265 Duane syndrome type 1 skos:exactMatch UMLS:C0994516 semapv:UnspecifiedMatching MONDO:0024266 patent ductus arteriosus 3 skos:exactMatch MEDGEN:934720 semapv:UnspecifiedMatching MONDO:0024266 patent ductus arteriosus 3 skos:exactMatch OMIM:617039 patent ductus arteriosus 3 semapv:UnspecifiedMatching MONDO:0024266 patent ductus arteriosus 3 skos:exactMatch UMLS:C4310753 semapv:UnspecifiedMatching MONDO:0024268 superficial mycosis skos:exactMatch DOID:0050133 superficial mycosis semapv:UnspecifiedMatching MONDO:0024268 superficial mycosis skos:exactMatch MEDGEN:755998 semapv:UnspecifiedMatching MONDO:0024268 superficial mycosis skos:exactMatch SCTID:276206000 semapv:UnspecifiedMatching MONDO:0024268 superficial mycosis skos:exactMatch UMLS:C2980104 semapv:UnspecifiedMatching MONDO:0024270 parasitic intestinal disorder skos:exactMatch EFO:0009561 semapv:UnspecifiedMatching MONDO:0024270 parasitic intestinal disorder skos:exactMatch MEDGEN:7131 semapv:UnspecifiedMatching MONDO:0024270 parasitic intestinal disorder skos:exactMatch UMLS:C0021832 semapv:UnspecifiedMatching MONDO:0024270 parasitic intestinal disorder skos:exactMatch mesh:D007411 semapv:UnspecifiedMatching MONDO:0024271 intestinal helminthiasis skos:exactMatch MEDGEN:87591 semapv:UnspecifiedMatching MONDO:0024271 intestinal helminthiasis skos:exactMatch SCTID:26249004 semapv:UnspecifiedMatching MONDO:0024271 intestinal helminthiasis skos:exactMatch UMLS:C0348287 semapv:UnspecifiedMatching MONDO:0024271 intestinal helminthiasis skos:exactMatch mesh:C531698 semapv:UnspecifiedMatching MONDO:0024275 amebic dysentery skos:exactMatch MEDGEN:8512 semapv:UnspecifiedMatching MONDO:0024275 amebic dysentery skos:exactMatch NCIT:C34558 Amebic Colitis semapv:UnspecifiedMatching MONDO:0024275 amebic dysentery skos:exactMatch UMLS:C0013370 semapv:UnspecifiedMatching MONDO:0024275 amebic dysentery skos:exactMatch mesh:D004404 semapv:UnspecifiedMatching MONDO:0024276 glandular cell neoplasm skos:exactMatch MEDGEN:64458 semapv:UnspecifiedMatching MONDO:0024276 glandular cell neoplasm skos:exactMatch NCIT:C7132 Glandular Cell Neoplasm semapv:UnspecifiedMatching MONDO:0024276 glandular cell neoplasm skos:exactMatch UMLS:C0205854 semapv:UnspecifiedMatching MONDO:0024277 neonatal thrombocytopenia skos:exactMatch MEDGEN:526130 semapv:UnspecifiedMatching MONDO:0024277 neonatal thrombocytopenia skos:exactMatch SCTID:82835005 semapv:UnspecifiedMatching MONDO:0024277 neonatal thrombocytopenia skos:exactMatch UMLS:C0221028 semapv:UnspecifiedMatching MONDO:0024277 neonatal thrombocytopenia skos:exactMatch mesh:D054098 semapv:UnspecifiedMatching MONDO:0024278 proctocolitis skos:exactMatch MEDGEN:18651 semapv:UnspecifiedMatching MONDO:0024278 proctocolitis skos:exactMatch NCIT:C77952 Proctocolitis semapv:UnspecifiedMatching MONDO:0024278 proctocolitis skos:exactMatch SCTID:418130002 semapv:UnspecifiedMatching MONDO:0024278 proctocolitis skos:exactMatch UMLS:C0033247 semapv:UnspecifiedMatching MONDO:0024278 proctocolitis skos:exactMatch mesh:D011350 semapv:UnspecifiedMatching MONDO:0024279 chronic endometritis skos:exactMatch MEDGEN:536766 semapv:UnspecifiedMatching MONDO:0024279 chronic endometritis skos:exactMatch NCIT:C102820 Chronic Endometritis semapv:UnspecifiedMatching MONDO:0024279 chronic endometritis skos:exactMatch SCTID:63922003 semapv:UnspecifiedMatching MONDO:0024279 chronic endometritis skos:exactMatch UMLS:C0238104 semapv:UnspecifiedMatching MONDO:0024279 chronic endometritis skos:exactMatch icd11.foundation:440849195 Chronic endometritis semapv:UnspecifiedMatching MONDO:0024280 polyarticular arthritis skos:exactMatch MEDGEN:56408 semapv:UnspecifiedMatching MONDO:0024280 polyarticular arthritis skos:exactMatch NCIT:C26996 Polyarticular Arthritis semapv:UnspecifiedMatching MONDO:0024280 polyarticular arthritis skos:exactMatch SCTID:416956002 semapv:UnspecifiedMatching MONDO:0024280 polyarticular arthritis skos:exactMatch UMLS:C0162323 semapv:UnspecifiedMatching MONDO:0024281 juvenile chronic polyarthritis skos:exactMatch MEDGEN:140816 semapv:UnspecifiedMatching MONDO:0024281 juvenile chronic polyarthritis skos:exactMatch NCIT:C26979 Juvenile Chronic Polyarthritis semapv:UnspecifiedMatching MONDO:0024281 juvenile chronic polyarthritis skos:exactMatch UMLS:C0409667 semapv:UnspecifiedMatching MONDO:0024282 mucinous ovarian cancer skos:exactMatch MEDGEN:274767 semapv:UnspecifiedMatching MONDO:0024282 mucinous ovarian cancer skos:exactMatch NCIT:C40033 Malignant Ovarian Mucinous Tumor semapv:UnspecifiedMatching MONDO:0024282 mucinous ovarian cancer skos:exactMatch UMLS:C1518233 semapv:UnspecifiedMatching MONDO:0024283 Demodex folliculitis skos:exactMatch MEDGEN:1876477 semapv:UnspecifiedMatching MONDO:0024283 Demodex folliculitis skos:exactMatch SCTID:240894003 semapv:UnspecifiedMatching MONDO:0024283 Demodex folliculitis skos:exactMatch UMLS:C5979892 semapv:UnspecifiedMatching MONDO:0024283 Demodex folliculitis skos:exactMatch icd11.foundation:1602267881 Demodex folliculitis semapv:UnspecifiedMatching MONDO:0024285 epsilon-heavy chain disease skos:exactMatch MEDGEN:543922 semapv:UnspecifiedMatching MONDO:0024285 epsilon-heavy chain disease skos:exactMatch SCTID:60620005 semapv:UnspecifiedMatching MONDO:0024285 epsilon-heavy chain disease skos:exactMatch UMLS:C0272254 semapv:UnspecifiedMatching MONDO:0024286 benign blood vessel neoplasm skos:exactMatch DOID:60006 benign vascular tumor semapv:UnspecifiedMatching MONDO:0024286 benign blood vessel neoplasm skos:exactMatch MEDGEN:195779 semapv:UnspecifiedMatching MONDO:0024286 benign blood vessel neoplasm skos:exactMatch NCIT:C8537 Benign Blood Vessel Neoplasm semapv:UnspecifiedMatching MONDO:0024286 benign blood vessel neoplasm skos:exactMatch UMLS:C0685121 semapv:UnspecifiedMatching MONDO:0024287 congenital vascular malformation skos:exactMatch MEDGEN:743837 semapv:UnspecifiedMatching MONDO:0024287 congenital vascular malformation skos:exactMatch NCIT:C112117 Vascular Malformation semapv:UnspecifiedMatching MONDO:0024287 congenital vascular malformation skos:exactMatch UMLS:C1961121 semapv:UnspecifiedMatching MONDO:0024288 hyperbilirubinemia skos:exactMatch MEDGEN:86321 semapv:UnspecifiedMatching MONDO:0024288 hyperbilirubinemia skos:exactMatch SCTID:14783006 semapv:UnspecifiedMatching MONDO:0024288 hyperbilirubinemia skos:exactMatch UMLS:C0311468 semapv:UnspecifiedMatching MONDO:0024288 hyperbilirubinemia skos:exactMatch mesh:D006932 semapv:UnspecifiedMatching MONDO:0024290 enuresis skos:exactMatch MEDGEN:8649 semapv:UnspecifiedMatching MONDO:0024290 enuresis skos:exactMatch NCIT:C34588 Enuresis semapv:UnspecifiedMatching MONDO:0024290 enuresis skos:exactMatch UMLS:C0014394 semapv:UnspecifiedMatching MONDO:0024290 enuresis skos:exactMatch icd11.foundation:1157749237 Enuresis semapv:UnspecifiedMatching MONDO:0024290 enuresis skos:exactMatch mesh:D004775 semapv:UnspecifiedMatching MONDO:0024291 vascular malformation skos:exactMatch EFO:0006888 semapv:UnspecifiedMatching MONDO:0024291 vascular malformation skos:exactMatch MEDGEN:56387 semapv:UnspecifiedMatching MONDO:0024291 vascular malformation skos:exactMatch UMLS:C0158570 semapv:UnspecifiedMatching MONDO:0024291 vascular malformation skos:exactMatch mesh:D054079 semapv:UnspecifiedMatching MONDO:0024292 gastrointestinal polyp skos:exactMatch MEDGEN:219797 semapv:UnspecifiedMatching MONDO:0024292 gastrointestinal polyp skos:exactMatch NCIT:C35516 Gastrointestinal Polyp semapv:UnspecifiedMatching MONDO:0024292 gastrointestinal polyp skos:exactMatch UMLS:C1257915 semapv:UnspecifiedMatching MONDO:0024293 obsolete polyposis, gastric, Dos Santos and de Magalhaes 1980 skos:exactMatch OMIM:175020 semapv:UnspecifiedMatching MONDO:0024294 skin disorder caused by infection skos:exactMatch mesh:D012874 semapv:UnspecifiedMatching MONDO:0024295 skin disease caused by bacterial infection skos:exactMatch mesh:D017192 semapv:UnspecifiedMatching MONDO:0024296 vascular neoplasm skos:exactMatch MEDGEN:129202 semapv:UnspecifiedMatching MONDO:0024296 vascular neoplasm skos:exactMatch NCIT:C7388 Vascular Neoplasm semapv:UnspecifiedMatching MONDO:0024296 vascular neoplasm skos:exactMatch UMLS:C0282607 semapv:UnspecifiedMatching MONDO:0024297 obsolete nutritional or metabolic disease skos:exactMatch ICD10CM:E00-E90 semapv:UnspecifiedMatching MONDO:0024297 obsolete nutritional or metabolic disease skos:exactMatch mesh:D009750 semapv:UnspecifiedMatching MONDO:0024298 vitamin deficiency disorder skos:exactMatch MEDGEN:267607 semapv:UnspecifiedMatching MONDO:0024298 vitamin deficiency disorder skos:exactMatch NCIT:C35772 Vitamin Deficiency Disorder semapv:UnspecifiedMatching MONDO:0024298 vitamin deficiency disorder skos:exactMatch SCTID:85670002 semapv:UnspecifiedMatching MONDO:0024298 vitamin deficiency disorder skos:exactMatch UMLS:C1510471 semapv:UnspecifiedMatching MONDO:0024298 vitamin deficiency disorder skos:exactMatch mesh:D001361 semapv:UnspecifiedMatching MONDO:0024299 vitamin D-dependent rickets skos:exactMatch DOID:0080883 vitamin D-dependent rickets semapv:UnspecifiedMatching MONDO:0024299 vitamin D-dependent rickets skos:exactMatch MEDGEN:526251 semapv:UnspecifiedMatching MONDO:0024299 vitamin D-dependent rickets skos:exactMatch SCTID:68295002 semapv:UnspecifiedMatching MONDO:0024299 vitamin D-dependent rickets skos:exactMatch UMLS:C0221468 semapv:UnspecifiedMatching MONDO:0024300 hypophosphatemic rickets skos:exactMatch MEDGEN:309957 semapv:UnspecifiedMatching MONDO:0024300 hypophosphatemic rickets skos:exactMatch NCIT:C131449 Hypophosphatemic Rickets semapv:UnspecifiedMatching MONDO:0024300 hypophosphatemic rickets skos:exactMatch UMLS:C1704375 semapv:UnspecifiedMatching MONDO:0024300 hypophosphatemic rickets skos:exactMatch mesh:D063730 semapv:UnspecifiedMatching MONDO:0024301 acquired mineral metabolism disease skos:exactMatch DOID:0050032 mineral metabolism disease semapv:UnspecifiedMatching MONDO:0024302 internal hirudiniasis skos:exactMatch ICD10CM:B83.4 Internal hirudiniasis semapv:UnspecifiedMatching MONDO:0024302 internal hirudiniasis skos:exactMatch MEDGEN:578592 semapv:UnspecifiedMatching MONDO:0024302 internal hirudiniasis skos:exactMatch SCTID:187227006 semapv:UnspecifiedMatching MONDO:0024302 internal hirudiniasis skos:exactMatch UMLS:C0348999 semapv:UnspecifiedMatching MONDO:0024302 internal hirudiniasis skos:exactMatch icd11.foundation:1840948804 Internal hirudiniasis semapv:UnspecifiedMatching MONDO:0024303 external hirudiniasis skos:exactMatch ICD10CM:B88.3 External hirudiniasis semapv:UnspecifiedMatching MONDO:0024303 external hirudiniasis skos:exactMatch MEDGEN:838360 semapv:UnspecifiedMatching MONDO:0024303 external hirudiniasis skos:exactMatch SCTID:1086871000119109 semapv:UnspecifiedMatching MONDO:0024303 external hirudiniasis skos:exactMatch UMLS:C0392037 semapv:UnspecifiedMatching MONDO:0024303 external hirudiniasis skos:exactMatch icd11.foundation:1781413652 External hirudiniasis semapv:UnspecifiedMatching MONDO:0024304 ichthyosis vulgaris skos:exactMatch MEDGEN:38217 semapv:UnspecifiedMatching MONDO:0024304 ichthyosis vulgaris skos:exactMatch NCIT:C84778 Ichthyosis Vulgaris semapv:UnspecifiedMatching MONDO:0024304 ichthyosis vulgaris skos:exactMatch UMLS:C0079584 semapv:UnspecifiedMatching MONDO:0024304 ichthyosis vulgaris skos:exactMatch icd11.foundation:841161884 Ichthyosis vulgaris semapv:UnspecifiedMatching MONDO:0024304 ichthyosis vulgaris skos:exactMatch mesh:D016112 semapv:UnspecifiedMatching MONDO:0024305 acquired hyperprolactinemia skos:exactMatch DOID:12700 hyperprolactinemia semapv:UnspecifiedMatching MONDO:0024306 acquired lactic acidosis skos:exactMatch DOID:3650 lactic acidosis semapv:UnspecifiedMatching MONDO:0024307 prothrombin deficiency skos:exactMatch MEDGEN:1651913 semapv:UnspecifiedMatching MONDO:0024307 prothrombin deficiency skos:exactMatch UMLS:C4722227 semapv:UnspecifiedMatching MONDO:0024308 pseudoxanthoma elasticum (inherited or acquired) skos:exactMatch MEDGEN:18733 semapv:UnspecifiedMatching MONDO:0024308 pseudoxanthoma elasticum (inherited or acquired) skos:exactMatch SCTID:252246005 semapv:UnspecifiedMatching MONDO:0024308 pseudoxanthoma elasticum (inherited or acquired) skos:exactMatch UMLS:C0033847 semapv:UnspecifiedMatching MONDO:0024309 neuropathy, hereditary sensory and autonomic, type 2A skos:exactMatch DOID:0070155 hereditary sensory and autonomic neuropathy type 2A semapv:UnspecifiedMatching MONDO:0024309 neuropathy, hereditary sensory and autonomic, type 2A skos:exactMatch MEDGEN:416701 semapv:UnspecifiedMatching MONDO:0024309 neuropathy, hereditary sensory and autonomic, type 2A skos:exactMatch OMIM:201300 neuropathy, hereditary sensory and autonomic, type 2a semapv:UnspecifiedMatching MONDO:0024309 neuropathy, hereditary sensory and autonomic, type 2A skos:exactMatch UMLS:C2752089 semapv:UnspecifiedMatching MONDO:0024310 angiodysplasia of stomach skos:exactMatch MEDGEN:677051 semapv:UnspecifiedMatching MONDO:0024310 angiodysplasia of stomach skos:exactMatch SCTID:424802006 semapv:UnspecifiedMatching MONDO:0024310 angiodysplasia of stomach skos:exactMatch UMLS:C0744273 semapv:UnspecifiedMatching MONDO:0024310 angiodysplasia of stomach skos:exactMatch icd11.foundation:977696596 Angiodysplasia of stomach semapv:UnspecifiedMatching MONDO:0024311 cancer affecting bone of limb skeleton skos:exactMatch ICD10CM:C40 Malignant neoplasm of bone and articular cartilage of limbs semapv:UnspecifiedMatching MONDO:0024311 cancer affecting bone of limb skeleton skos:exactMatch MEDGEN:1843503 semapv:UnspecifiedMatching MONDO:0024311 cancer affecting bone of limb skeleton skos:exactMatch UMLS:C0494152 semapv:UnspecifiedMatching MONDO:0024312 cancer of short bone of upper limb skos:exactMatch ICD10CM:C40.1 Malignant neoplasm of short bones of upper limb semapv:UnspecifiedMatching MONDO:0024312 cancer of short bone of upper limb skos:exactMatch MEDGEN:726937 semapv:UnspecifiedMatching MONDO:0024312 cancer of short bone of upper limb skos:exactMatch UMLS:C1306142 semapv:UnspecifiedMatching MONDO:0024313 staphylococcal infection skos:exactMatch EFO:1001849 semapv:UnspecifiedMatching MONDO:0024313 staphylococcal infection skos:exactMatch MEDGEN:52483 semapv:UnspecifiedMatching MONDO:0024313 staphylococcal infection skos:exactMatch NCIT:C35038 Staphylococcal Infection semapv:UnspecifiedMatching MONDO:0024313 staphylococcal infection skos:exactMatch SCTID:56038003 semapv:UnspecifiedMatching MONDO:0024313 staphylococcal infection skos:exactMatch UMLS:C0038160 semapv:UnspecifiedMatching MONDO:0024313 staphylococcal infection skos:exactMatch mesh:D013203 semapv:UnspecifiedMatching MONDO:0024314 parasitemia skos:exactMatch MEDGEN:116650 semapv:UnspecifiedMatching MONDO:0024314 parasitemia skos:exactMatch UMLS:C0242723 semapv:UnspecifiedMatching MONDO:0024314 parasitemia skos:exactMatch mesh:D018512 semapv:UnspecifiedMatching MONDO:0024315 parasitic endophthalmitis skos:exactMatch MEDGEN:4954 semapv:UnspecifiedMatching MONDO:0024315 parasitic endophthalmitis skos:exactMatch NCIT:C34587 Parasitic Endophthalmitis semapv:UnspecifiedMatching MONDO:0024315 parasitic endophthalmitis skos:exactMatch SCTID:57100005 semapv:UnspecifiedMatching MONDO:0024315 parasitic endophthalmitis skos:exactMatch UMLS:C0014238 semapv:UnspecifiedMatching MONDO:0024315 parasitic endophthalmitis skos:exactMatch icd11.foundation:935014361 Parasitic endophthalmitis semapv:UnspecifiedMatching MONDO:0024316 physiological malfunction arising from mental factor skos:exactMatch MEDGEN:102310 semapv:UnspecifiedMatching MONDO:0024316 physiological malfunction arising from mental factor skos:exactMatch NCIT:C35186 Physiological Malfunction Arising from Mental Factor semapv:UnspecifiedMatching MONDO:0024316 physiological malfunction arising from mental factor skos:exactMatch UMLS:C0154548 semapv:UnspecifiedMatching MONDO:0024317 chronic pain syndrome skos:exactMatch ICD10CM:G89.4 Chronic pain syndrome semapv:UnspecifiedMatching MONDO:0024317 chronic pain syndrome skos:exactMatch MEDGEN:720585 semapv:UnspecifiedMatching MONDO:0024317 chronic pain syndrome skos:exactMatch SCTID:373621006 semapv:UnspecifiedMatching MONDO:0024317 chronic pain syndrome skos:exactMatch UMLS:C1298685 semapv:UnspecifiedMatching MONDO:0024318 viral infection of central nervous system skos:broadMatch ICD10CM:A80-A89 Viral and prion infections of the central nervous system (A80-A89) semapv:UnspecifiedMatching MONDO:0024318 viral infection of central nervous system skos:exactMatch ICD10WHO:A80-A89 Viral infections of the central nervous system semapv:UnspecifiedMatching MONDO:0024318 viral infection of central nervous system skos:exactMatch MEDGEN:91141 semapv:UnspecifiedMatching MONDO:0024318 viral infection of central nervous system skos:exactMatch SCTID:302810003 semapv:UnspecifiedMatching MONDO:0024318 viral infection of central nervous system skos:exactMatch UMLS:C0348165 semapv:UnspecifiedMatching MONDO:0024318 viral infection of central nervous system skos:exactMatch mesh:D020805 semapv:UnspecifiedMatching MONDO:0024320 inner ear neoplasm skos:exactMatch MEDGEN:268582 semapv:UnspecifiedMatching MONDO:0024320 inner ear neoplasm skos:exactMatch NCIT:C39784 Inner Ear Neoplasm semapv:UnspecifiedMatching MONDO:0024320 inner ear neoplasm skos:exactMatch UMLS:C1512779 semapv:UnspecifiedMatching MONDO:0024323 glomangiomyoma skos:exactMatch DOID:8020 glomangiomyoma semapv:UnspecifiedMatching MONDO:0024323 glomangiomyoma skos:exactMatch MEDGEN:87240 semapv:UnspecifiedMatching MONDO:0024323 glomangiomyoma skos:exactMatch NCIT:C4223 Glomangiomyoma semapv:UnspecifiedMatching MONDO:0024323 glomangiomyoma skos:exactMatch UMLS:C0334422 semapv:UnspecifiedMatching MONDO:0024325 cutaneous glomangiomyoma skos:exactMatch MEDGEN:698513 semapv:UnspecifiedMatching MONDO:0024325 cutaneous glomangiomyoma skos:exactMatch SCTID:403971002 semapv:UnspecifiedMatching MONDO:0024325 cutaneous glomangiomyoma skos:exactMatch UMLS:C1275227 semapv:UnspecifiedMatching MONDO:0024326 pleural adenomatoid tumor skos:exactMatch MEDGEN:83408 semapv:UnspecifiedMatching MONDO:0024326 pleural adenomatoid tumor skos:exactMatch NCIT:C4499 Pleural Adenomatoid Tumor semapv:UnspecifiedMatching MONDO:0024326 pleural adenomatoid tumor skos:exactMatch Orphanet:675814 Adenomatoid tumour of the pleura semapv:UnspecifiedMatching MONDO:0024326 pleural adenomatoid tumor skos:exactMatch UMLS:C0346112 semapv:UnspecifiedMatching MONDO:0024327 chronic renal failure syndrome skos:exactMatch MEDGEN:9637 semapv:UnspecifiedMatching MONDO:0024327 chronic renal failure syndrome skos:exactMatch NCIT:C9438 Chronic Renal Failure semapv:UnspecifiedMatching MONDO:0024327 chronic renal failure syndrome skos:exactMatch SCTID:90688005 semapv:UnspecifiedMatching MONDO:0024327 chronic renal failure syndrome skos:exactMatch UMLS:C0022661 semapv:UnspecifiedMatching MONDO:0024327 chronic renal failure syndrome skos:exactMatch mesh:D051436 semapv:UnspecifiedMatching MONDO:0024330 infectious otitis media skos:exactMatch MEDGEN:443472 semapv:UnspecifiedMatching MONDO:0024330 infectious otitis media skos:exactMatch NCIT:C84354 Infectious Otitis Media semapv:UnspecifiedMatching MONDO:0024330 infectious otitis media skos:exactMatch UMLS:C2827407 semapv:UnspecifiedMatching MONDO:0024331 colorectal carcinoma skos:exactMatch DOID:0080199 colorectal carcinoma semapv:UnspecifiedMatching MONDO:0024331 colorectal carcinoma skos:exactMatch EFO:1001951 semapv:UnspecifiedMatching MONDO:0024331 colorectal carcinoma skos:exactMatch MEDGEN:3170 semapv:UnspecifiedMatching MONDO:0024331 colorectal carcinoma skos:exactMatch NCIT:C2955 Colorectal Carcinoma semapv:UnspecifiedMatching MONDO:0024331 colorectal carcinoma skos:exactMatch UMLS:C0009402 semapv:UnspecifiedMatching MONDO:0024332 perennial allergic rhinitis skos:exactMatch EFO:1001417 semapv:UnspecifiedMatching MONDO:0024332 perennial allergic rhinitis skos:exactMatch MEDGEN:19783 semapv:UnspecifiedMatching MONDO:0024332 perennial allergic rhinitis skos:exactMatch NCIT:C92189 Perennial Allergic Rhinitis semapv:UnspecifiedMatching MONDO:0024332 perennial allergic rhinitis skos:exactMatch SCTID:446096008 semapv:UnspecifiedMatching MONDO:0024332 perennial allergic rhinitis skos:exactMatch UMLS:C0035457 semapv:UnspecifiedMatching MONDO:0024332 perennial allergic rhinitis skos:exactMatch icd11.foundation:1273917262 Perennial allergic rhinitis semapv:UnspecifiedMatching MONDO:0024332 perennial allergic rhinitis skos:exactMatch mesh:D012221 semapv:UnspecifiedMatching MONDO:0024333 sciatica skos:exactMatch ICD10CM:M54.3 Sciatica semapv:UnspecifiedMatching MONDO:0024333 sciatica skos:exactMatch MEDGEN:19893 semapv:UnspecifiedMatching MONDO:0024333 sciatica skos:exactMatch SCTID:23056005 semapv:UnspecifiedMatching MONDO:0024333 sciatica skos:exactMatch UMLS:C0036396 semapv:UnspecifiedMatching MONDO:0024333 sciatica skos:exactMatch icd11.foundation:2056651014 Sciatica semapv:UnspecifiedMatching MONDO:0024333 sciatica skos:exactMatch mesh:D012585 semapv:UnspecifiedMatching MONDO:0024334 peripheral nerve lesion skos:exactMatch MEDGEN:1843468 semapv:UnspecifiedMatching MONDO:0024334 peripheral nerve lesion skos:exactMatch UMLS:C1963788 semapv:UnspecifiedMatching MONDO:0024335 retrobulbar neuritis skos:exactMatch ICD10CM:H46.1 Retrobulbar neuritis semapv:UnspecifiedMatching MONDO:0024335 retrobulbar neuritis skos:exactMatch MEDGEN:39312 semapv:UnspecifiedMatching MONDO:0024335 retrobulbar neuritis skos:exactMatch SCTID:230507009 semapv:UnspecifiedMatching MONDO:0024335 retrobulbar neuritis skos:exactMatch UMLS:C0085582 semapv:UnspecifiedMatching MONDO:0024335 retrobulbar neuritis skos:exactMatch icd11.foundation:63567539 Retrobulbar neuritis semapv:UnspecifiedMatching MONDO:0024336 vulvar adenocarcinoma skos:exactMatch DOID:2098 vulva adenocarcinoma semapv:UnspecifiedMatching MONDO:0024336 vulvar adenocarcinoma skos:exactMatch MEDGEN:234480 semapv:UnspecifiedMatching MONDO:0024336 vulvar adenocarcinoma skos:exactMatch NCIT:C6380 Vulvar Adenocarcinoma semapv:UnspecifiedMatching MONDO:0024336 vulvar adenocarcinoma skos:exactMatch Orphanet:494454 Vulvar adenocarcinoma semapv:UnspecifiedMatching MONDO:0024336 vulvar adenocarcinoma skos:exactMatch UMLS:C1336975 semapv:UnspecifiedMatching MONDO:0024337 urothelial neoplasm skos:exactMatch MEDGEN:275551 semapv:UnspecifiedMatching MONDO:0024337 urothelial neoplasm skos:exactMatch NCIT:C39852 Urothelial Neoplasm semapv:UnspecifiedMatching MONDO:0024337 urothelial neoplasm skos:exactMatch UMLS:C1519840 semapv:UnspecifiedMatching MONDO:0024338 mucinous neoplasm skos:exactMatch MEDGEN:235339 semapv:UnspecifiedMatching MONDO:0024338 mucinous neoplasm skos:exactMatch NCIT:C7070 Mucinous Neoplasm semapv:UnspecifiedMatching MONDO:0024338 mucinous neoplasm skos:exactMatch UMLS:C1334811 semapv:UnspecifiedMatching MONDO:0024339 lymph node neoplasm skos:exactMatch MEDGEN:108920 semapv:UnspecifiedMatching MONDO:0024339 lymph node neoplasm skos:exactMatch NCIT:C35497 Lymph Node Neoplasm semapv:UnspecifiedMatching MONDO:0024339 lymph node neoplasm skos:exactMatch UMLS:C0596869 semapv:UnspecifiedMatching MONDO:0024340 retinal neuroblastoma skos:exactMatch MEDGEN:1830429 semapv:UnspecifiedMatching MONDO:0024340 retinal neuroblastoma skos:exactMatch NCIT:C6956 Retinal Neuroblastoma semapv:UnspecifiedMatching MONDO:0024340 retinal neuroblastoma skos:exactMatch UMLS:C5779888 semapv:UnspecifiedMatching MONDO:0024341 retinal cell neoplasm skos:exactMatch MEDGEN:277595 semapv:UnspecifiedMatching MONDO:0024341 retinal cell neoplasm skos:exactMatch NCIT:C7061 Retinal Cell Neoplasm semapv:UnspecifiedMatching MONDO:0024341 retinal cell neoplasm skos:exactMatch UMLS:C1335765 semapv:UnspecifiedMatching MONDO:0024343 pityriasis simplex skos:exactMatch MEDGEN:602609 semapv:UnspecifiedMatching MONDO:0024343 pityriasis simplex skos:exactMatch SCTID:200767005 semapv:UnspecifiedMatching MONDO:0024343 pityriasis simplex skos:exactMatch UMLS:C0423775 semapv:UnspecifiedMatching MONDO:0024344 pityriasis folliculorum skos:exactMatch MEDGEN:590298 semapv:UnspecifiedMatching MONDO:0024344 pityriasis folliculorum skos:exactMatch SCTID:200993008 semapv:UnspecifiedMatching MONDO:0024344 pityriasis folliculorum skos:exactMatch UMLS:C0406312 semapv:UnspecifiedMatching MONDO:0024345 obsolete pityriasis streptogenes skos:exactMatch SCTID:200994002 semapv:UnspecifiedMatching MONDO:0024346 pityriasis amiantacea skos:exactMatch MEDGEN:575384 semapv:UnspecifiedMatching MONDO:0024346 pityriasis amiantacea skos:exactMatch SCTID:238924007 semapv:UnspecifiedMatching MONDO:0024346 pityriasis amiantacea skos:exactMatch UMLS:C0343100 semapv:UnspecifiedMatching MONDO:0024346 pityriasis amiantacea skos:exactMatch icd11.foundation:210953452 Pityriasis amiantacea semapv:UnspecifiedMatching MONDO:0024348 obsolete pityriasis capitis skos:exactMatch SCTID:400201008 semapv:UnspecifiedMatching MONDO:0024349 pityriasis alba skos:exactMatch ICD10CM:L30.5 Pityriasis alba semapv:UnspecifiedMatching MONDO:0024349 pityriasis alba skos:exactMatch MEDGEN:39322 semapv:UnspecifiedMatching MONDO:0024349 pityriasis alba skos:exactMatch SCTID:402296004 semapv:UnspecifiedMatching MONDO:0024349 pityriasis alba skos:exactMatch UMLS:C0085657 semapv:UnspecifiedMatching MONDO:0024349 pityriasis alba skos:exactMatch icd11.foundation:1386947078 Pityriasis alba semapv:UnspecifiedMatching MONDO:0024350 pityriasis steatoides skos:exactMatch MEDGEN:698103 semapv:UnspecifiedMatching MONDO:0024350 pityriasis steatoides skos:exactMatch SCTID:403426003 semapv:UnspecifiedMatching MONDO:0024350 pityriasis steatoides skos:exactMatch UMLS:C1274781 semapv:UnspecifiedMatching MONDO:0024352 viral respiratory tract infection skos:exactMatch MEDGEN:163755 semapv:UnspecifiedMatching MONDO:0024352 viral respiratory tract infection skos:exactMatch NCIT:C27219 Viral Respiratory Tract Infection semapv:UnspecifiedMatching MONDO:0024352 viral respiratory tract infection skos:exactMatch SCTID:312133006 semapv:UnspecifiedMatching MONDO:0024352 viral respiratory tract infection skos:exactMatch UMLS:C0877203 semapv:UnspecifiedMatching MONDO:0024354 cytomegalovirus pneumonia skos:exactMatch MEDGEN:124443 semapv:UnspecifiedMatching MONDO:0024354 cytomegalovirus pneumonia skos:exactMatch NCIT:C35360 Cytomegalovirus Pneumonia semapv:UnspecifiedMatching MONDO:0024354 cytomegalovirus pneumonia skos:exactMatch SCTID:7678002 semapv:UnspecifiedMatching MONDO:0024354 cytomegalovirus pneumonia skos:exactMatch UMLS:C0276253 semapv:UnspecifiedMatching MONDO:0024355 respiratory tract infectious disorder skos:exactMatch SCTID:275498002 semapv:UnspecifiedMatching MONDO:0024355 respiratory tract infectious disorder skos:exactMatch mesh:D012141 semapv:UnspecifiedMatching MONDO:0024356 primary central sleep apnea syndrome skos:exactMatch ICD10CM:G47.31 Primary central sleep apnea semapv:UnspecifiedMatching MONDO:0024356 primary central sleep apnea syndrome skos:exactMatch MEDGEN:148385 semapv:UnspecifiedMatching MONDO:0024356 primary central sleep apnea syndrome skos:exactMatch SCTID:9741000119101 semapv:UnspecifiedMatching MONDO:0024356 primary central sleep apnea syndrome skos:exactMatch UMLS:C0751762 semapv:UnspecifiedMatching MONDO:0024357 drug induced central sleep apnea skos:exactMatch MEDGEN:783188 semapv:UnspecifiedMatching MONDO:0024357 drug induced central sleep apnea skos:exactMatch SCTID:104831000119109 semapv:UnspecifiedMatching MONDO:0024357 drug induced central sleep apnea skos:exactMatch UMLS:C3662033 semapv:UnspecifiedMatching MONDO:0024358 complex sleep apnea skos:exactMatch DOID:0080302 mixed sleep apnea semapv:UnspecifiedMatching MONDO:0024358 complex sleep apnea skos:exactMatch MEDGEN:83271 semapv:UnspecifiedMatching MONDO:0024358 complex sleep apnea skos:exactMatch SCTID:230493001 semapv:UnspecifiedMatching MONDO:0024358 complex sleep apnea skos:exactMatch UMLS:C0338495 semapv:UnspecifiedMatching MONDO:0024359 central sleep apnea due to periodic breathing skos:exactMatch MEDGEN:783212 semapv:UnspecifiedMatching MONDO:0024359 central sleep apnea due to periodic breathing skos:exactMatch SCTID:85721000119105 semapv:UnspecifiedMatching MONDO:0024359 central sleep apnea due to periodic breathing skos:exactMatch UMLS:C3662057 semapv:UnspecifiedMatching MONDO:0024360 central sleep apnea caused by high altitude skos:exactMatch MEDGEN:884045 semapv:UnspecifiedMatching MONDO:0024360 central sleep apnea caused by high altitude skos:exactMatch SCTID:91441000119109 semapv:UnspecifiedMatching MONDO:0024360 central sleep apnea caused by high altitude skos:exactMatch UMLS:C4075997 semapv:UnspecifiedMatching MONDO:0024361 circadian rhythm sleep disorder skos:exactMatch ICD10CM:G47.2 Circadian rhythm sleep disorders semapv:UnspecifiedMatching MONDO:0024361 circadian rhythm sleep disorder skos:exactMatch MEDGEN:167920 semapv:UnspecifiedMatching MONDO:0024361 circadian rhythm sleep disorder skos:exactMatch NCIT:C95071 Circadian Rhythm Sleep Disorder semapv:UnspecifiedMatching MONDO:0024361 circadian rhythm sleep disorder skos:exactMatch UMLS:C0877792 semapv:UnspecifiedMatching MONDO:0024361 circadian rhythm sleep disorder skos:exactMatch mesh:D020178 semapv:UnspecifiedMatching MONDO:0024363 rapid eye movement sleep disorder skos:exactMatch MEDGEN:581569 semapv:UnspecifiedMatching MONDO:0024363 rapid eye movement sleep disorder skos:exactMatch SCTID:192004002 semapv:UnspecifiedMatching MONDO:0024363 rapid eye movement sleep disorder skos:exactMatch UMLS:C0393768 semapv:UnspecifiedMatching MONDO:0024376 sleep disorder, initiating and maintaining sleep skos:exactMatch MEDGEN:43897 semapv:UnspecifiedMatching MONDO:0024376 sleep disorder, initiating and maintaining sleep skos:exactMatch SCTID:194437008 semapv:UnspecifiedMatching MONDO:0024376 sleep disorder, initiating and maintaining sleep skos:exactMatch UMLS:C0021603 semapv:UnspecifiedMatching MONDO:0024377 circadian rhythm sleep disorder, delayed sleep phase type skos:exactMatch DOID:0111141 delayed sleep phase syndrome semapv:UnspecifiedMatching MONDO:0024377 circadian rhythm sleep disorder, delayed sleep phase type skos:exactMatch ICD10CM:G47.21 Circadian rhythm sleep disorder, delayed sleep phase type semapv:UnspecifiedMatching MONDO:0024377 circadian rhythm sleep disorder, delayed sleep phase type skos:exactMatch MEDGEN:97962 semapv:UnspecifiedMatching MONDO:0024377 circadian rhythm sleep disorder, delayed sleep phase type skos:exactMatch SCTID:80623000 semapv:UnspecifiedMatching MONDO:0024377 circadian rhythm sleep disorder, delayed sleep phase type skos:exactMatch UMLS:C0393770 semapv:UnspecifiedMatching MONDO:0024378 circadian rhythm sleep disorder, advanced sleep phase type skos:exactMatch ICD10CM:G47.22 Circadian rhythm sleep disorder, advanced sleep phase type semapv:UnspecifiedMatching MONDO:0024378 circadian rhythm sleep disorder, advanced sleep phase type skos:exactMatch MEDGEN:199728 semapv:UnspecifiedMatching MONDO:0024378 circadian rhythm sleep disorder, advanced sleep phase type skos:exactMatch SCTID:31537005 semapv:UnspecifiedMatching MONDO:0024378 circadian rhythm sleep disorder, advanced sleep phase type skos:exactMatch UMLS:C0751758 semapv:UnspecifiedMatching MONDO:0024379 circadian rhythm sleep disorder, irregular sleep wake type skos:exactMatch ICD10CM:G47.23 Circadian rhythm sleep disorder, irregular sleep wake type semapv:UnspecifiedMatching MONDO:0024379 circadian rhythm sleep disorder, irregular sleep wake type skos:exactMatch MEDGEN:581571 semapv:UnspecifiedMatching MONDO:0024379 circadian rhythm sleep disorder, irregular sleep wake type skos:exactMatch SCTID:271793004 semapv:UnspecifiedMatching MONDO:0024379 circadian rhythm sleep disorder, irregular sleep wake type skos:exactMatch UMLS:C0393771 semapv:UnspecifiedMatching MONDO:0024381 circadian rhythm sleep disorder, jet lag type skos:exactMatch ICD10CM:G47.25 Circadian rhythm sleep disorder, jet lag type semapv:UnspecifiedMatching MONDO:0024381 circadian rhythm sleep disorder, jet lag type skos:exactMatch MEDGEN:115901 semapv:UnspecifiedMatching MONDO:0024381 circadian rhythm sleep disorder, jet lag type skos:exactMatch UMLS:C0231311 semapv:UnspecifiedMatching MONDO:0024382 circadian rhythm sleep disorder, shift work type skos:exactMatch ICD10CM:G47.26 Circadian rhythm sleep disorder, shift work type semapv:UnspecifiedMatching MONDO:0024382 circadian rhythm sleep disorder, shift work type skos:exactMatch MEDGEN:501114 semapv:UnspecifiedMatching MONDO:0024382 circadian rhythm sleep disorder, shift work type skos:exactMatch SCTID:713498009 semapv:UnspecifiedMatching MONDO:0024382 circadian rhythm sleep disorder, shift work type skos:exactMatch UMLS:C0393773 semapv:UnspecifiedMatching MONDO:0024386 large cell lung carcinoma, clear cell variant skos:exactMatch MEDGEN:317518 semapv:UnspecifiedMatching MONDO:0024386 large cell lung carcinoma, clear cell variant skos:exactMatch NCIT:C4451 Lung Large Cell Carcinoma, Clear Cell Variant semapv:UnspecifiedMatching MONDO:0024386 large cell lung carcinoma, clear cell variant skos:exactMatch UMLS:C1707407 semapv:UnspecifiedMatching MONDO:0024387 benign ovarian sex cord-stromal tumor skos:exactMatch DOID:0080370 ovarian sex cord-stromal benign neoplasm semapv:UnspecifiedMatching MONDO:0024387 benign ovarian sex cord-stromal tumor skos:exactMatch MEDGEN:231435 semapv:UnspecifiedMatching MONDO:0024387 benign ovarian sex cord-stromal tumor skos:exactMatch NCIT:C6803 Benign Ovarian Sex Cord-Stromal Tumor semapv:UnspecifiedMatching MONDO:0024387 benign ovarian sex cord-stromal tumor skos:exactMatch UMLS:C1332528 semapv:UnspecifiedMatching MONDO:0024388 Clostridium infectious disease skos:exactMatch EFO:1000874 semapv:UnspecifiedMatching MONDO:0024388 Clostridium infectious disease skos:exactMatch SCTID:56688005 semapv:UnspecifiedMatching MONDO:0024388 Clostridium infectious disease skos:exactMatch mesh:D003015 semapv:UnspecifiedMatching MONDO:0024389 anaerobic bacteria infectious disease skos:exactMatch MEDGEN:678527 semapv:UnspecifiedMatching MONDO:0024389 anaerobic bacteria infectious disease skos:exactMatch SCTID:423451008 semapv:UnspecifiedMatching MONDO:0024389 anaerobic bacteria infectious disease skos:exactMatch UMLS:C0854328 semapv:UnspecifiedMatching MONDO:0024392 anaerobic balanitis skos:exactMatch MEDGEN:588642 semapv:UnspecifiedMatching MONDO:0024392 anaerobic balanitis skos:exactMatch SCTID:236746000 semapv:UnspecifiedMatching MONDO:0024392 anaerobic balanitis skos:exactMatch UMLS:C0403764 semapv:UnspecifiedMatching MONDO:0024410 infection caused by Bifidobacterium skos:exactMatch MEDGEN:923145 semapv:UnspecifiedMatching MONDO:0024410 infection caused by Bifidobacterium skos:exactMatch SCTID:721759009 semapv:UnspecifiedMatching MONDO:0024410 infection caused by Bifidobacterium skos:exactMatch UMLS:C1096283 semapv:UnspecifiedMatching MONDO:0024412 Peptostreptococcus infectious disease skos:exactMatch MEDGEN:842384 semapv:UnspecifiedMatching MONDO:0024412 Peptostreptococcus infectious disease skos:exactMatch SCTID:135341000119101 semapv:UnspecifiedMatching MONDO:0024412 Peptostreptococcus infectious disease skos:exactMatch UMLS:C1096562 semapv:UnspecifiedMatching MONDO:0024414 anaerobic cellulitis skos:exactMatch MEDGEN:537100 semapv:UnspecifiedMatching MONDO:0024414 anaerobic cellulitis skos:exactMatch SCTID:238401006 semapv:UnspecifiedMatching MONDO:0024414 anaerobic cellulitis skos:exactMatch UMLS:C0241828 semapv:UnspecifiedMatching MONDO:0024415 hemorrhagic duodenitis skos:exactMatch MEDGEN:137951 semapv:UnspecifiedMatching MONDO:0024415 hemorrhagic duodenitis skos:exactMatch SCTID:95531001 semapv:UnspecifiedMatching MONDO:0024415 hemorrhagic duodenitis skos:exactMatch UMLS:C0341245 semapv:UnspecifiedMatching MONDO:0024416 Neorickettsia infectious disease skos:exactMatch MEDGEN:547099 semapv:UnspecifiedMatching MONDO:0024416 Neorickettsia infectious disease skos:exactMatch SCTID:78355003 semapv:UnspecifiedMatching MONDO:0024416 Neorickettsia infectious disease skos:exactMatch UMLS:C0276121 semapv:UnspecifiedMatching MONDO:0024417 perceptual disorders skos:exactMatch MEDGEN:45392 semapv:UnspecifiedMatching MONDO:0024417 perceptual disorders skos:exactMatch UMLS:C0030975 semapv:UnspecifiedMatching MONDO:0024417 perceptual disorders skos:exactMatch mesh:D010468 semapv:UnspecifiedMatching MONDO:0024419 enthesitis skos:exactMatch MEDGEN:451081 semapv:UnspecifiedMatching MONDO:0024419 enthesitis skos:exactMatch NCIT:C114470 Enthesitis semapv:UnspecifiedMatching MONDO:0024419 enthesitis skos:exactMatch SCTID:359643005 semapv:UnspecifiedMatching MONDO:0024419 enthesitis skos:exactMatch UMLS:C1282952 semapv:UnspecifiedMatching MONDO:0024422 auditory perceptual disorders skos:exactMatch MEDGEN:155527 semapv:UnspecifiedMatching MONDO:0024422 auditory perceptual disorders skos:exactMatch NCIT:C84575 Auditory Perceptual Disorder semapv:UnspecifiedMatching MONDO:0024422 auditory perceptual disorders skos:exactMatch SCTID:229752008 semapv:UnspecifiedMatching MONDO:0024422 auditory perceptual disorders skos:exactMatch UMLS:C0751257 semapv:UnspecifiedMatching MONDO:0024422 auditory perceptual disorders skos:exactMatch mesh:D001308 semapv:UnspecifiedMatching MONDO:0024429 Alice in Wonderland syndrome skos:exactMatch MEDGEN:473310 semapv:UnspecifiedMatching MONDO:0024429 Alice in Wonderland syndrome skos:exactMatch NCIT:C116362 Alice in Wonderland Syndrome semapv:UnspecifiedMatching MONDO:0024429 Alice in Wonderland syndrome skos:exactMatch UMLS:C0854348 semapv:UnspecifiedMatching MONDO:0024429 Alice in Wonderland syndrome skos:exactMatch mesh:D062026 semapv:UnspecifiedMatching MONDO:0024430 allesthesia skos:exactMatch MEDGEN:827104 semapv:UnspecifiedMatching MONDO:0024430 allesthesia skos:exactMatch UMLS:C3850010 semapv:UnspecifiedMatching MONDO:0024430 allesthesia skos:exactMatch mesh:D066190 semapv:UnspecifiedMatching MONDO:0024431 bilirubin metabolism disease skos:exactMatch MEDGEN:541273 semapv:UnspecifiedMatching MONDO:0024431 bilirubin metabolism disease skos:exactMatch SCTID:80006005 semapv:UnspecifiedMatching MONDO:0024431 bilirubin metabolism disease skos:exactMatch UMLS:C0268305 semapv:UnspecifiedMatching MONDO:0024432 nerve plexus disorder skos:exactMatch DOID:3688 plexopathy semapv:UnspecifiedMatching MONDO:0024432 nerve plexus disorder skos:exactMatch EFO:0009559 semapv:UnspecifiedMatching MONDO:0024432 nerve plexus disorder skos:exactMatch MEDGEN:543047 semapv:UnspecifiedMatching MONDO:0024432 nerve plexus disorder skos:exactMatch NCIT:C27744 Plexopathy semapv:UnspecifiedMatching MONDO:0024432 nerve plexus disorder skos:exactMatch SCTID:2231001 semapv:UnspecifiedMatching MONDO:0024432 nerve plexus disorder skos:exactMatch UMLS:C0270891 semapv:UnspecifiedMatching MONDO:0024454 sacral nerve plexus disorder skos:exactMatch MEDGEN:419804 semapv:UnspecifiedMatching MONDO:0024454 sacral nerve plexus disorder skos:exactMatch UMLS:C2931445 semapv:UnspecifiedMatching MONDO:0024454 sacral nerve plexus disorder skos:exactMatch mesh:C537224 semapv:UnspecifiedMatching MONDO:0024455 autosomal dominant Robinow syndrome 1 skos:exactMatch DOID:0060766 autosomal dominant Robinow syndrome 1 semapv:UnspecifiedMatching MONDO:0024455 autosomal dominant Robinow syndrome 1 skos:exactMatch MEDGEN:1641736 semapv:UnspecifiedMatching MONDO:0024455 autosomal dominant Robinow syndrome 1 skos:exactMatch OMIM:180700 robinow syndrome, autosomal dominant 1 semapv:UnspecifiedMatching MONDO:0024455 autosomal dominant Robinow syndrome 1 skos:exactMatch UMLS:C4551475 semapv:UnspecifiedMatching MONDO:0024456 anterior segment dysgenesis 3 skos:exactMatch DOID:0080608 anterior segment dysgenesis 3 semapv:UnspecifiedMatching MONDO:0024456 anterior segment dysgenesis 3 skos:exactMatch MEDGEN:1875235 semapv:UnspecifiedMatching MONDO:0024456 anterior segment dysgenesis 3 skos:exactMatch OMIM:601631 anterior segment dysgenesis 3 semapv:UnspecifiedMatching MONDO:0024456 anterior segment dysgenesis 3 skos:exactMatch UMLS:C5975707 semapv:UnspecifiedMatching MONDO:0024456 anterior segment dysgenesis 3 skos:exactMatch mesh:C535535 semapv:UnspecifiedMatching MONDO:0024457 neurodegeneration with brain iron accumulation 2A skos:exactMatch DOID:0110735 neurodegeneration with brain iron accumulation 2a semapv:UnspecifiedMatching MONDO:0024457 neurodegeneration with brain iron accumulation 2A skos:exactMatch MEDGEN:82852 semapv:UnspecifiedMatching MONDO:0024457 neurodegeneration with brain iron accumulation 2A skos:exactMatch NCIT:C84927 Infantile Neuroaxonal Dystrophy semapv:UnspecifiedMatching MONDO:0024457 neurodegeneration with brain iron accumulation 2A skos:exactMatch OMIM:256600 neurodegeneration with brain iron accumulation 2a semapv:UnspecifiedMatching MONDO:0024457 neurodegeneration with brain iron accumulation 2A skos:exactMatch Orphanet:35069 Infantile neuroaxonal dystrophy semapv:UnspecifiedMatching MONDO:0024457 neurodegeneration with brain iron accumulation 2A skos:exactMatch SCTID:52713000 semapv:UnspecifiedMatching MONDO:0024457 neurodegeneration with brain iron accumulation 2A skos:exactMatch UMLS:C0270724 semapv:UnspecifiedMatching MONDO:0024457 neurodegeneration with brain iron accumulation 2A skos:exactMatch mesh:C536071 semapv:UnspecifiedMatching MONDO:0024458 disorder of visual system skos:exactMatch SCTID:128127008 semapv:UnspecifiedMatching MONDO:0024459 Aeromonas hydrophila intestinal disease skos:exactMatch MEDGEN:755174 semapv:UnspecifiedMatching MONDO:0024459 Aeromonas hydrophila intestinal disease skos:exactMatch SCTID:446988001 semapv:UnspecifiedMatching MONDO:0024459 Aeromonas hydrophila intestinal disease skos:exactMatch UMLS:C2960005 semapv:UnspecifiedMatching MONDO:0024461 angiomatosis skos:exactMatch MEDGEN:1931 semapv:UnspecifiedMatching MONDO:0024461 angiomatosis skos:exactMatch NCIT:C27503 Angiomatosis semapv:UnspecifiedMatching MONDO:0024461 angiomatosis skos:exactMatch SCTID:205562004 semapv:UnspecifiedMatching MONDO:0024461 angiomatosis skos:exactMatch UMLS:C0002992 semapv:UnspecifiedMatching MONDO:0024461 angiomatosis skos:exactMatch mesh:D000798 semapv:UnspecifiedMatching MONDO:0024462 susceptibility to familial cutaneous melanoma skos:exactMatch MEDGEN:1388845 semapv:UnspecifiedMatching MONDO:0024462 susceptibility to familial cutaneous melanoma skos:exactMatch OMIMPS:155600 Melanoma, cutaneous malignant semapv:UnspecifiedMatching MONDO:0024462 susceptibility to familial cutaneous melanoma skos:exactMatch UMLS:C4511622 semapv:UnspecifiedMatching MONDO:0024463 ovarian dysgenesis 1 skos:exactMatch DOID:0080493 ovarian dysgenesis 1 semapv:UnspecifiedMatching MONDO:0024463 ovarian dysgenesis 1 skos:exactMatch MEDGEN:215397 semapv:UnspecifiedMatching MONDO:0024463 ovarian dysgenesis 1 skos:exactMatch OMIM:233300 ovarian dysgenesis 1 semapv:UnspecifiedMatching MONDO:0024463 ovarian dysgenesis 1 skos:exactMatch UMLS:C0949595 semapv:UnspecifiedMatching MONDO:0024464 pituitary hormone deficiency, combined, 1 skos:exactMatch DOID:0061019 combined or isolated pituitary hormone deficiency 1 semapv:UnspecifiedMatching MONDO:0024464 pituitary hormone deficiency, combined, 1 skos:exactMatch MEDGEN:414421 semapv:UnspecifiedMatching MONDO:0024464 pituitary hormone deficiency, combined, 1 skos:exactMatch OMIM:613038 pituitary hormone deficiency, combined or isolated, 1 semapv:UnspecifiedMatching MONDO:0024464 pituitary hormone deficiency, combined, 1 skos:exactMatch UMLS:C2751608 semapv:UnspecifiedMatching MONDO:0024464 pituitary hormone deficiency, combined, 1 skos:exactMatch mesh:C567803 semapv:UnspecifiedMatching MONDO:0024465 surfactant metabolism dysfunction, pulmonary, 2 skos:exactMatch MEDGEN:410078 semapv:UnspecifiedMatching MONDO:0024465 surfactant metabolism dysfunction, pulmonary, 2 skos:exactMatch OMIM:610913 surfactant metabolism dysfunction, pulmonary, 2 semapv:UnspecifiedMatching MONDO:0024465 surfactant metabolism dysfunction, pulmonary, 2 skos:exactMatch UMLS:C1970470 semapv:UnspecifiedMatching MONDO:0024465 surfactant metabolism dysfunction, pulmonary, 2 skos:exactMatch mesh:C567048 semapv:UnspecifiedMatching MONDO:0024466 facial paresis, hereditary congenital, 1 skos:exactMatch MEDGEN:371292 semapv:UnspecifiedMatching MONDO:0024466 facial paresis, hereditary congenital, 1 skos:exactMatch OMIM:601471 facial paresis, hereditary congenital, 1 semapv:UnspecifiedMatching MONDO:0024466 facial paresis, hereditary congenital, 1 skos:exactMatch UMLS:C1832284 semapv:UnspecifiedMatching MONDO:0024467 apocrine sweat gland disorder skos:exactMatch ICD10CM:L75 Apocrine sweat disorders semapv:UnspecifiedMatching MONDO:0024467 apocrine sweat gland disorder skos:exactMatch MEDGEN:1843461 semapv:UnspecifiedMatching MONDO:0024467 apocrine sweat gland disorder skos:exactMatch UMLS:C0477516 semapv:UnspecifiedMatching MONDO:0024468 anterior pituitary gland disorder skos:exactMatch MEDGEN:148306 semapv:UnspecifiedMatching MONDO:0024468 anterior pituitary gland disorder skos:exactMatch SCTID:51742006 semapv:UnspecifiedMatching MONDO:0024468 anterior pituitary gland disorder skos:exactMatch UMLS:C0751437 semapv:UnspecifiedMatching MONDO:0024469 chondrogenic neoplasm skos:exactMatch MEDGEN:96904 semapv:UnspecifiedMatching MONDO:0024469 chondrogenic neoplasm skos:exactMatch NCIT:C4755 Chondrogenic Neoplasm semapv:UnspecifiedMatching MONDO:0024469 chondrogenic neoplasm skos:exactMatch UMLS:C0476147 semapv:UnspecifiedMatching MONDO:0024470 benign chondrogenic neoplasm skos:exactMatch MEDGEN:208867 semapv:UnspecifiedMatching MONDO:0024470 benign chondrogenic neoplasm skos:exactMatch NCIT:C8592 Benign Chondrogenic Neoplasm semapv:UnspecifiedMatching MONDO:0024470 benign chondrogenic neoplasm skos:exactMatch SCTID:722690001 semapv:UnspecifiedMatching MONDO:0024470 benign chondrogenic neoplasm skos:exactMatch UMLS:C0852519 semapv:UnspecifiedMatching MONDO:0024471 obsolete non-inflammatory vasculopathy skos:exactMatch Orphanet:496924 Non-inflammatory vasculopathy semapv:UnspecifiedMatching MONDO:0024472 boutonneuse fever skos:exactMatch DOID:14095 boutonneuse fever semapv:UnspecifiedMatching MONDO:0024472 boutonneuse fever skos:exactMatch MEDGEN:14205 semapv:UnspecifiedMatching MONDO:0024472 boutonneuse fever skos:exactMatch Orphanet:101334 African tick typhus semapv:UnspecifiedMatching MONDO:0024472 boutonneuse fever skos:exactMatch Orphanet:83313 Boutonneuse fever semapv:UnspecifiedMatching MONDO:0024472 boutonneuse fever skos:exactMatch SCTID:186774005 semapv:UnspecifiedMatching MONDO:0024472 boutonneuse fever skos:exactMatch UMLS:C0006060 semapv:UnspecifiedMatching MONDO:0024472 boutonneuse fever skos:exactMatch icd11.foundation:1771381430 Spotted fever due to Rickettsia conorii semapv:UnspecifiedMatching MONDO:0024472 boutonneuse fever skos:exactMatch mesh:D001907 semapv:UnspecifiedMatching MONDO:0024473 Astrakhan spotted fever skos:exactMatch DOID:0050041 Astrakhan spotted fever semapv:UnspecifiedMatching MONDO:0024473 Astrakhan spotted fever skos:exactMatch MEDGEN:1814171 semapv:UnspecifiedMatching MONDO:0024473 Astrakhan spotted fever skos:exactMatch UMLS:C5574872 semapv:UnspecifiedMatching MONDO:0024474 intraepithelial neoplasia skos:exactMatch MEDGEN:164203 semapv:UnspecifiedMatching MONDO:0024474 intraepithelial neoplasia skos:exactMatch NCIT:C8366 Intraepithelial Neoplasia semapv:UnspecifiedMatching MONDO:0024474 intraepithelial neoplasia skos:exactMatch UMLS:C0878500 semapv:UnspecifiedMatching MONDO:0024475 squamous cell intraepithelial neoplasia skos:exactMatch MEDGEN:83092 semapv:UnspecifiedMatching MONDO:0024475 squamous cell intraepithelial neoplasia skos:exactMatch NCIT:C8334 Squamous Cell Intraepithelial Neoplasia semapv:UnspecifiedMatching MONDO:0024475 squamous cell intraepithelial neoplasia skos:exactMatch UMLS:C0333873 semapv:UnspecifiedMatching MONDO:0024477 liver and intrahepatic bile duct neoplasm skos:exactMatch DOID:916 liver benign neoplasm semapv:UnspecifiedMatching MONDO:0024477 liver and intrahepatic bile duct neoplasm skos:exactMatch MEDGEN:232599 semapv:UnspecifiedMatching MONDO:0024477 liver and intrahepatic bile duct neoplasm skos:exactMatch NCIT:C7103 Liver Neoplasm semapv:UnspecifiedMatching MONDO:0024477 liver and intrahepatic bile duct neoplasm skos:exactMatch NCIT:C7106 Liver Epithelial Neoplasm semapv:UnspecifiedMatching MONDO:0024477 liver and intrahepatic bile duct neoplasm skos:exactMatch SCTID:126851005 semapv:UnspecifiedMatching MONDO:0024477 liver and intrahepatic bile duct neoplasm skos:exactMatch UMLS:C1333976 semapv:UnspecifiedMatching MONDO:0024478 mesenchymal hamartoma skos:exactMatch MEDGEN:83108 semapv:UnspecifiedMatching MONDO:0024478 mesenchymal hamartoma skos:exactMatch NCIT:C40427 Mesenchymal Hamartoma semapv:UnspecifiedMatching MONDO:0024478 mesenchymal hamartoma skos:exactMatch UMLS:C0334090 semapv:UnspecifiedMatching MONDO:0024480 dermatosis of eyelid skos:exactMatch MEDGEN:697502 semapv:UnspecifiedMatching MONDO:0024480 dermatosis of eyelid skos:exactMatch SCTID:402700001 semapv:UnspecifiedMatching MONDO:0024480 dermatosis of eyelid skos:exactMatch UMLS:C1274150 semapv:UnspecifiedMatching MONDO:0024481 skin appendage disorder skos:exactMatch ICD10CM:L60-L75 Disorders of skin appendages (L60-L75) semapv:UnspecifiedMatching MONDO:0024481 skin appendage disorder skos:exactMatch MEDGEN:508145 semapv:UnspecifiedMatching MONDO:0024481 skin appendage disorder skos:exactMatch SCTID:238714008 semapv:UnspecifiedMatching MONDO:0024481 skin appendage disorder skos:exactMatch UMLS:C0037272 semapv:UnspecifiedMatching MONDO:0024482 eccrine sweat gland hamartoma skos:exactMatch MEDGEN:232145 semapv:UnspecifiedMatching MONDO:0024482 eccrine sweat gland hamartoma skos:exactMatch NCIT:C5564 Eccrine Sweat Gland Hamartoma semapv:UnspecifiedMatching MONDO:0024482 eccrine sweat gland hamartoma skos:exactMatch UMLS:C1333372 semapv:UnspecifiedMatching MONDO:0024483 urothelial hyperplasia skos:exactMatch MEDGEN:234463 semapv:UnspecifiedMatching MONDO:0024483 urothelial hyperplasia skos:exactMatch NCIT:C27877 Urothelial Hyperplasia semapv:UnspecifiedMatching MONDO:0024483 urothelial hyperplasia skos:exactMatch UMLS:C1336895 semapv:UnspecifiedMatching MONDO:0024485 papillary urothelial hyperplasia skos:exactMatch MEDGEN:235457 semapv:UnspecifiedMatching MONDO:0024485 papillary urothelial hyperplasia skos:exactMatch NCIT:C27879 Papillary Urothelial Hyperplasia semapv:UnspecifiedMatching MONDO:0024485 papillary urothelial hyperplasia skos:exactMatch UMLS:C1335328 semapv:UnspecifiedMatching MONDO:0024487 nail infection skos:exactMatch MEDGEN:87467 semapv:UnspecifiedMatching MONDO:0024487 nail infection skos:exactMatch NCIT:C78493 Nail Infection semapv:UnspecifiedMatching MONDO:0024487 nail infection skos:exactMatch UMLS:C0343026 semapv:UnspecifiedMatching MONDO:0024489 general tumor grading characteristic skos:exactMatch NCIT:C28076 Disease Grade Qualifier semapv:UnspecifiedMatching MONDO:0024491 tumor grade 1, general grading system skos:exactMatch MEDGEN:634565 semapv:UnspecifiedMatching MONDO:0024491 tumor grade 1, general grading system skos:exactMatch NCIT:C28077 Grade 1 semapv:UnspecifiedMatching MONDO:0024491 tumor grade 1, general grading system skos:exactMatch UMLS:C0475269 semapv:UnspecifiedMatching MONDO:0024492 tumor grade 2, general grading system skos:exactMatch NCIT:C28078 Grade 2 semapv:UnspecifiedMatching MONDO:0024493 tumor grade 3, general grading system skos:exactMatch MEDGEN:634567 semapv:UnspecifiedMatching MONDO:0024493 tumor grade 3, general grading system skos:exactMatch NCIT:C28079 Grade 3 semapv:UnspecifiedMatching MONDO:0024493 tumor grade 3, general grading system skos:exactMatch UMLS:C0475271 semapv:UnspecifiedMatching MONDO:0024494 tumor grade 4, general grading system skos:exactMatch NCIT:C28082 Grade 4 semapv:UnspecifiedMatching MONDO:0024496 tumor grade 2 or 3, general grading system skos:exactMatch NCIT:C94678 Grade 2/3 semapv:UnspecifiedMatching MONDO:0024497 tumor grade 3 or 4, general grading system skos:exactMatch NCIT:C14158 High Grade semapv:UnspecifiedMatching MONDO:0024498 glioma susceptibility 1 skos:exactMatch MEDGEN:413414 semapv:UnspecifiedMatching MONDO:0024498 glioma susceptibility 1 skos:exactMatch OMIM:137800 glioma susceptibility 1 semapv:UnspecifiedMatching MONDO:0024498 glioma susceptibility 1 skos:exactMatch UMLS:C2750850 semapv:UnspecifiedMatching MONDO:0024499 vascular bone neoplasm skos:exactMatch MEDGEN:234986 semapv:UnspecifiedMatching MONDO:0024499 vascular bone neoplasm skos:exactMatch NCIT:C6478 Vascular Bone Neoplasm semapv:UnspecifiedMatching MONDO:0024499 vascular bone neoplasm skos:exactMatch UMLS:C1336946 semapv:UnspecifiedMatching MONDO:0024500 duodenal neuroendocrine neoplasm skos:exactMatch MEDGEN:1800031 semapv:UnspecifiedMatching MONDO:0024500 duodenal neuroendocrine neoplasm skos:exactMatch UMLS:C5568608 semapv:UnspecifiedMatching MONDO:0024500 duodenal neuroendocrine neoplasm skos:exactMatch icd11.foundation:1585809486 Neuroendocrine neoplasm of duodenum semapv:UnspecifiedMatching MONDO:0024501 appendix neuroendocrine neoplasm skos:exactMatch MEDGEN:361887 semapv:UnspecifiedMatching MONDO:0024501 appendix neuroendocrine neoplasm skos:exactMatch NCIT:C60709 Appendix Neuroendocrine Neoplasm semapv:UnspecifiedMatching MONDO:0024501 appendix neuroendocrine neoplasm skos:exactMatch UMLS:C1879718 semapv:UnspecifiedMatching MONDO:0024502 gallbladder neuroendocrine neoplasm skos:exactMatch MEDGEN:474748 semapv:UnspecifiedMatching MONDO:0024502 gallbladder neuroendocrine neoplasm skos:exactMatch NCIT:C96917 Gallbladder Neuroendocrine Neoplasm semapv:UnspecifiedMatching MONDO:0024502 gallbladder neuroendocrine neoplasm skos:exactMatch UMLS:C3273115 semapv:UnspecifiedMatching MONDO:0024503 digestive system neuroendocrine neoplasm skos:exactMatch MEDGEN:232237 semapv:UnspecifiedMatching MONDO:0024503 digestive system neuroendocrine neoplasm skos:exactMatch NCIT:C27721 Digestive System Neuroendocrine Neoplasm semapv:UnspecifiedMatching MONDO:0024503 digestive system neuroendocrine neoplasm skos:exactMatch Orphanet:100092 Gastroenteropancreatic neuroendocrine neoplasm semapv:UnspecifiedMatching MONDO:0024503 digestive system neuroendocrine neoplasm skos:exactMatch UMLS:C1333799 semapv:UnspecifiedMatching MONDO:0024503 digestive system neuroendocrine neoplasm skos:exactMatch mesh:C535650 semapv:UnspecifiedMatching MONDO:0024504 enterochromaffin cell serotonin-producing pancreatic neuroendocrine tumor skos:exactMatch MEDGEN:91057 semapv:UnspecifiedMatching MONDO:0024504 enterochromaffin cell serotonin-producing pancreatic neuroendocrine tumor skos:exactMatch NCIT:C4446 Pancreatic Serotonin-Producing Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO:0024504 enterochromaffin cell serotonin-producing pancreatic neuroendocrine tumor skos:exactMatch Orphanet:506090 Serotonin-producing neuroendocrine tumor of pancreas semapv:UnspecifiedMatching MONDO:0024504 enterochromaffin cell serotonin-producing pancreatic neuroendocrine tumor skos:exactMatch UMLS:C0345933 semapv:UnspecifiedMatching MONDO:0024505 obsolete disorder by anatomical region skos:exactMatch SCTID:123946008 semapv:UnspecifiedMatching MONDO:0024506 Adams-Oliver syndrome 1 skos:exactMatch MEDGEN:1635567 semapv:UnspecifiedMatching MONDO:0024506 Adams-Oliver syndrome 1 skos:exactMatch OMIM:100300 adams-oliver syndrome 1 semapv:UnspecifiedMatching MONDO:0024506 Adams-Oliver syndrome 1 skos:exactMatch UMLS:C4551482 semapv:UnspecifiedMatching MONDO:0024507 aniridia 1 skos:exactMatch DOID:0070532 aniridia 1 semapv:UnspecifiedMatching MONDO:0024507 aniridia 1 skos:exactMatch MEDGEN:576337 semapv:UnspecifiedMatching MONDO:0024507 aniridia 1 skos:exactMatch OMIM:106210 aniridia 1 semapv:UnspecifiedMatching MONDO:0024507 aniridia 1 skos:exactMatch SCTID:253231007 semapv:UnspecifiedMatching MONDO:0024507 aniridia 1 skos:exactMatch UMLS:C0344542 semapv:UnspecifiedMatching MONDO:0024508 epilepsy, hot water, 1 skos:exactMatch DOID:0081106 hot water epilepsy 1 semapv:UnspecifiedMatching MONDO:0024508 epilepsy, hot water, 1 skos:exactMatch MEDGEN:1636069 semapv:UnspecifiedMatching MONDO:0024508 epilepsy, hot water, 1 skos:exactMatch OMIM:613339 epilepsy, hot water, 1 semapv:UnspecifiedMatching MONDO:0024508 epilepsy, hot water, 1 skos:exactMatch UMLS:C4551550 semapv:UnspecifiedMatching MONDO:0024512 spondyloarthropathy, susceptibility to skos:exactMatch OMIMPS:106300 Spondyloarthropathy, susceptibility to semapv:UnspecifiedMatching MONDO:0024516 familial acne inversa skos:exactMatch MEDGEN:326766 semapv:UnspecifiedMatching MONDO:0024516 familial acne inversa skos:exactMatch OMIMPS:142690 Acne inversa semapv:UnspecifiedMatching MONDO:0024516 familial acne inversa skos:exactMatch UMLS:C1840560 semapv:UnspecifiedMatching MONDO:0024517 SMARCB1-related schwannomatosis skos:exactMatch DOID:0070480 schwannomatosis 1 semapv:UnspecifiedMatching MONDO:0024517 SMARCB1-related schwannomatosis skos:exactMatch MEDGEN:887689 semapv:UnspecifiedMatching MONDO:0024517 SMARCB1-related schwannomatosis skos:exactMatch NCIT:C186703 SMARCB1 Schwannomatosis 1 semapv:UnspecifiedMatching MONDO:0024517 SMARCB1-related schwannomatosis skos:exactMatch OMIM:162091 schwannomatosis 1 semapv:UnspecifiedMatching MONDO:0024517 SMARCB1-related schwannomatosis skos:exactMatch UMLS:C4048809 semapv:UnspecifiedMatching MONDO:0024518 reactive thrombocytosis skos:exactMatch MEDGEN:630140 semapv:UnspecifiedMatching MONDO:0024518 reactive thrombocytosis skos:exactMatch SCTID:234500001 semapv:UnspecifiedMatching MONDO:0024518 reactive thrombocytosis skos:exactMatch UMLS:C0457506 semapv:UnspecifiedMatching MONDO:0024518 reactive thrombocytosis skos:exactMatch icd11.foundation:1096559251 Reactive thrombocytosis semapv:UnspecifiedMatching MONDO:0024519 renal hypodysplasia/aplasia 1 skos:exactMatch MEDGEN:301437 semapv:UnspecifiedMatching MONDO:0024519 renal hypodysplasia/aplasia 1 skos:exactMatch OMIM:191830 renal hypodysplasia/aplasia 1 semapv:UnspecifiedMatching MONDO:0024519 renal hypodysplasia/aplasia 1 skos:exactMatch UMLS:C1619700 semapv:UnspecifiedMatching MONDO:0024520 renal hypodysplasia/aplasia 3 skos:exactMatch MEDGEN:1626497 semapv:UnspecifiedMatching MONDO:0024520 renal hypodysplasia/aplasia 3 skos:exactMatch OMIM:617805 renal hypodysplasia/aplasia 3 semapv:UnspecifiedMatching MONDO:0024520 renal hypodysplasia/aplasia 3 skos:exactMatch UMLS:C4540497 semapv:UnspecifiedMatching MONDO:0024521 aortic aneurysm, familial abdominal, 1 skos:exactMatch MEDGEN:339961 semapv:UnspecifiedMatching MONDO:0024521 aortic aneurysm, familial abdominal, 1 skos:exactMatch OMIM:100070 aortic aneurysm, familial abdominal, 1 semapv:UnspecifiedMatching MONDO:0024521 aortic aneurysm, familial abdominal, 1 skos:exactMatch UMLS:C1853365 semapv:UnspecifiedMatching MONDO:0024522 amyloidosis, primary localized cutaneous, 1 skos:exactMatch DOID:0080930 primary localized cutaneous amyloidosis 1 semapv:UnspecifiedMatching MONDO:0024522 amyloidosis, primary localized cutaneous, 1 skos:exactMatch MEDGEN:1639046 semapv:UnspecifiedMatching MONDO:0024522 amyloidosis, primary localized cutaneous, 1 skos:exactMatch OMIM:105250 amyloidosis, primary localized cutaneous, 1 semapv:UnspecifiedMatching MONDO:0024522 amyloidosis, primary localized cutaneous, 1 skos:exactMatch UMLS:C4551501 semapv:UnspecifiedMatching MONDO:0024523 aortic valve disease 1 skos:exactMatch DOID:0080333 aortic valve disease 1 semapv:UnspecifiedMatching MONDO:0024523 aortic valve disease 1 skos:exactMatch MEDGEN:854610 semapv:UnspecifiedMatching MONDO:0024523 aortic valve disease 1 skos:exactMatch OMIM:109730 aortic valve disease 1 semapv:UnspecifiedMatching MONDO:0024523 aortic valve disease 1 skos:exactMatch UMLS:C3887892 semapv:UnspecifiedMatching MONDO:0024524 dyschromatosis universalis hereditaria 1 skos:exactMatch MEDGEN:390864 semapv:UnspecifiedMatching MONDO:0024524 dyschromatosis universalis hereditaria 1 skos:exactMatch OMIM:127500 dyschromatosis universalis hereditaria 1 semapv:UnspecifiedMatching MONDO:0024524 dyschromatosis universalis hereditaria 1 skos:exactMatch UMLS:C2675711 semapv:UnspecifiedMatching MONDO:0024524 dyschromatosis universalis hereditaria 1 skos:exactMatch mesh:C567273 semapv:UnspecifiedMatching MONDO:0024525 Fanconi renotubular syndrome 1 skos:exactMatch DOID:0080757 Fanconi renotubular syndrome 1 semapv:UnspecifiedMatching MONDO:0024525 Fanconi renotubular syndrome 1 skos:exactMatch MEDGEN:1635492 semapv:UnspecifiedMatching MONDO:0024525 Fanconi renotubular syndrome 1 skos:exactMatch OMIM:134600 fanconi renotubular syndrome 1 semapv:UnspecifiedMatching MONDO:0024525 Fanconi renotubular syndrome 1 skos:exactMatch UMLS:C4551503 semapv:UnspecifiedMatching MONDO:0024526 Zimmermann-Laband syndrome 1 skos:exactMatch MEDGEN:1639277 semapv:UnspecifiedMatching MONDO:0024526 Zimmermann-Laband syndrome 1 skos:exactMatch OMIM:135500 zimmermann-laband syndrome 1 semapv:UnspecifiedMatching MONDO:0024526 Zimmermann-Laband syndrome 1 skos:exactMatch UMLS:C4551773 semapv:UnspecifiedMatching MONDO:0024527 glomerulopathy with fibronectin deposits 1 skos:exactMatch MEDGEN:98017 semapv:UnspecifiedMatching MONDO:0024527 glomerulopathy with fibronectin deposits 1 skos:exactMatch OMIM:137950 glomerulopathy with fibronectin deposits 1 semapv:UnspecifiedMatching MONDO:0024527 glomerulopathy with fibronectin deposits 1 skos:exactMatch UMLS:C0403557 semapv:UnspecifiedMatching MONDO:0024528 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 skos:exactMatch DOID:0111521 autosomal dominant progressive external ophthalmoplegia 1 semapv:UnspecifiedMatching MONDO:0024528 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 skos:exactMatch MEDGEN:371919 semapv:UnspecifiedMatching MONDO:0024528 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 skos:exactMatch OMIM:157640 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 semapv:UnspecifiedMatching MONDO:0024528 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 skos:exactMatch UMLS:C1834846 semapv:UnspecifiedMatching MONDO:0024529 MVP1 skos:exactMatch MEDGEN:320443 semapv:UnspecifiedMatching MONDO:0024529 MVP1 skos:exactMatch OMIM:157700 mitral valve prolapse 1 semapv:UnspecifiedMatching MONDO:0024529 MVP1 skos:exactMatch UMLS:C1834819 semapv:UnspecifiedMatching MONDO:0024530 Bethlem myopathy 1A skos:exactMatch DOID:0061198 Bethlem myopathy 1A semapv:UnspecifiedMatching MONDO:0024530 Bethlem myopathy 1A skos:exactMatch OMIM:158810 bethlem myopathy 1a semapv:UnspecifiedMatching MONDO:0024531 myopathy, tubular aggregate, 1 skos:exactMatch MEDGEN:860163 semapv:UnspecifiedMatching MONDO:0024531 myopathy, tubular aggregate, 1 skos:exactMatch OMIM:160565 myopathy, tubular aggregate, 1 semapv:UnspecifiedMatching MONDO:0024531 myopathy, tubular aggregate, 1 skos:exactMatch UMLS:C4011726 semapv:UnspecifiedMatching MONDO:0024532 otofaciocervical syndrome 1 skos:exactMatch MEDGEN:811516 semapv:UnspecifiedMatching MONDO:0024532 otofaciocervical syndrome 1 skos:exactMatch OMIM:166780 otofaciocervical syndrome 1 semapv:UnspecifiedMatching MONDO:0024532 otofaciocervical syndrome 1 skos:exactMatch UMLS:C3714941 semapv:UnspecifiedMatching MONDO:0024533 pulmonary hypertension, primary, 1 skos:exactMatch MEDGEN:1643124 semapv:UnspecifiedMatching MONDO:0024533 pulmonary hypertension, primary, 1 skos:exactMatch OMIM:178600 pulmonary hypertension, primary, 1 semapv:UnspecifiedMatching MONDO:0024533 pulmonary hypertension, primary, 1 skos:exactMatch UMLS:C4552070 semapv:UnspecifiedMatching MONDO:0024534 Dowling-Degos disease 1 skos:exactMatch MEDGEN:1645697 semapv:UnspecifiedMatching MONDO:0024534 Dowling-Degos disease 1 skos:exactMatch OMIM:179850 dowling-degos disease 1 semapv:UnspecifiedMatching MONDO:0024534 Dowling-Degos disease 1 skos:exactMatch UMLS:C4552092 semapv:UnspecifiedMatching MONDO:0024535 Singleton-Merten syndrome 1 skos:exactMatch MEDGEN:899946 semapv:UnspecifiedMatching MONDO:0024535 Singleton-Merten syndrome 1 skos:exactMatch OMIM:182250 singleton-merten syndrome 1 semapv:UnspecifiedMatching MONDO:0024535 Singleton-Merten syndrome 1 skos:exactMatch UMLS:C4225427 semapv:UnspecifiedMatching MONDO:0024536 glucocorticoid deficiency 1 skos:exactMatch DOID:0080621 glucocorticoid deficiency 1 semapv:UnspecifiedMatching MONDO:0024536 glucocorticoid deficiency 1 skos:exactMatch MEDGEN:885551 semapv:UnspecifiedMatching MONDO:0024536 glucocorticoid deficiency 1 skos:exactMatch OMIM:202200 glucocorticoid deficiency 1 semapv:UnspecifiedMatching MONDO:0024536 glucocorticoid deficiency 1 skos:exactMatch UMLS:C4049650 semapv:UnspecifiedMatching MONDO:0024537 Brown-Vialetto-van Laere syndrome 1 skos:exactMatch DOID:0080785 Brown-Vialetto-Van Laere syndrome 1 semapv:UnspecifiedMatching MONDO:0024537 Brown-Vialetto-van Laere syndrome 1 skos:exactMatch MEDGEN:163239 semapv:UnspecifiedMatching MONDO:0024537 Brown-Vialetto-van Laere syndrome 1 skos:exactMatch NCIT:C133724 Brown-Vialetto-Van Laere Syndrome 1 semapv:UnspecifiedMatching MONDO:0024537 Brown-Vialetto-van Laere syndrome 1 skos:exactMatch OMIM:211530 brown-vialetto-van laere syndrome 1 semapv:UnspecifiedMatching MONDO:0024537 Brown-Vialetto-van Laere syndrome 1 skos:exactMatch Orphanet:572543 RFVT2-related riboflavin transporter deficiency semapv:UnspecifiedMatching MONDO:0024537 Brown-Vialetto-van Laere syndrome 1 skos:exactMatch UMLS:C0796274 semapv:UnspecifiedMatching MONDO:0024538 basal ganglia calcification, idiopathic, 1 skos:exactMatch MEDGEN:1637664 semapv:UnspecifiedMatching MONDO:0024538 basal ganglia calcification, idiopathic, 1 skos:exactMatch NCIT:C129973 Idiopathic Basal Ganglia Calcification 1 semapv:UnspecifiedMatching MONDO:0024538 basal ganglia calcification, idiopathic, 1 skos:exactMatch OMIM:213600 basal ganglia calcification, idiopathic, 1 semapv:UnspecifiedMatching MONDO:0024538 basal ganglia calcification, idiopathic, 1 skos:exactMatch UMLS:C4551624 semapv:UnspecifiedMatching MONDO:0024538 basal ganglia calcification, idiopathic, 1 skos:exactMatch mesh:C537657 semapv:UnspecifiedMatching MONDO:0024539 choroidal dystrophy, central areolar, 1 skos:exactMatch MEDGEN:1639900 semapv:UnspecifiedMatching MONDO:0024539 choroidal dystrophy, central areolar, 1 skos:exactMatch OMIM:215500 choroidal dystrophy, central areolar, 1 semapv:UnspecifiedMatching MONDO:0024539 choroidal dystrophy, central areolar, 1 skos:exactMatch UMLS:C4551884 semapv:UnspecifiedMatching MONDO:0024540 Jervell and Lange-Nielsen syndrome 1 skos:exactMatch MEDGEN:1646925 semapv:UnspecifiedMatching MONDO:0024540 Jervell and Lange-Nielsen syndrome 1 skos:exactMatch OMIM:220400 jervell and lange-nielsen syndrome 1 semapv:UnspecifiedMatching MONDO:0024540 Jervell and Lange-Nielsen syndrome 1 skos:exactMatch UMLS:C4551509 semapv:UnspecifiedMatching MONDO:0024541 trichohepatoenteric syndrome 1 skos:exactMatch DOID:0111415 trichohepatoenteric syndrome 1 semapv:UnspecifiedMatching MONDO:0024541 trichohepatoenteric syndrome 1 skos:exactMatch MEDGEN:1644087 semapv:UnspecifiedMatching MONDO:0024541 trichohepatoenteric syndrome 1 skos:exactMatch OMIM:222470 trichohepatoenteric syndrome 1 semapv:UnspecifiedMatching MONDO:0024541 trichohepatoenteric syndrome 1 skos:exactMatch UMLS:C4551982 semapv:UnspecifiedMatching MONDO:0024542 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 skos:exactMatch DOID:0070556 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 semapv:UnspecifiedMatching MONDO:0024542 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 skos:exactMatch MEDGEN:1639436 semapv:UnspecifiedMatching MONDO:0024542 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 skos:exactMatch OMIM:224050 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 semapv:UnspecifiedMatching MONDO:0024542 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 skos:exactMatch UMLS:C4551552 semapv:UnspecifiedMatching MONDO:0024543 brittle cornea syndrome 1 skos:exactMatch MEDGEN:78661 semapv:UnspecifiedMatching MONDO:0024543 brittle cornea syndrome 1 skos:exactMatch OMIM:229200 brittle cornea syndrome 1 semapv:UnspecifiedMatching MONDO:0024543 brittle cornea syndrome 1 skos:exactMatch SCTID:31798004 semapv:UnspecifiedMatching MONDO:0024543 brittle cornea syndrome 1 skos:exactMatch UMLS:C0268344 semapv:UnspecifiedMatching MONDO:0024543 brittle cornea syndrome 1 skos:exactMatch mesh:C536192 semapv:UnspecifiedMatching MONDO:0024544 obsolete Heimler syndrome 1 skos:exactMatch DOID:0080623 Heimler syndrome 1 semapv:UnspecifiedMatching MONDO:0024545 Miyoshi muscular dystrophy 1 skos:exactMatch DOID:0070199 Miyoshi muscular dystrophy 1 semapv:UnspecifiedMatching MONDO:0024545 Miyoshi muscular dystrophy 1 skos:exactMatch MEDGEN:1640757 semapv:UnspecifiedMatching MONDO:0024545 Miyoshi muscular dystrophy 1 skos:exactMatch OMIM:254130 miyoshi muscular dystrophy 1 semapv:UnspecifiedMatching MONDO:0024545 Miyoshi muscular dystrophy 1 skos:exactMatch UMLS:C4551973 semapv:UnspecifiedMatching MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:exactMatch MEDGEN:1641972 semapv:UnspecifiedMatching MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:exactMatch OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 semapv:UnspecifiedMatching MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:exactMatch UMLS:C4551679 semapv:UnspecifiedMatching MONDO:0024547 pancreatic agenesis 1 skos:exactMatch DOID:0061003 pancreatic agenesis 1 semapv:UnspecifiedMatching MONDO:0024547 pancreatic agenesis 1 skos:exactMatch MEDGEN:856095 semapv:UnspecifiedMatching MONDO:0024547 pancreatic agenesis 1 skos:exactMatch OMIM:260370 pancreatic agenesis 1 semapv:UnspecifiedMatching MONDO:0024547 pancreatic agenesis 1 skos:exactMatch UMLS:C3891828 semapv:UnspecifiedMatching MONDO:0024548 peeling skin syndrome 1 skos:exactMatch DOID:0070520 peeling skin syndrome 1 semapv:UnspecifiedMatching MONDO:0024548 peeling skin syndrome 1 skos:exactMatch MEDGEN:1885521 semapv:UnspecifiedMatching MONDO:0024548 peeling skin syndrome 1 skos:exactMatch OMIM:270300 peeling skin syndrome 1 semapv:UnspecifiedMatching MONDO:0024548 peeling skin syndrome 1 skos:exactMatch Orphanet:263553 Peeling skin syndrome type B semapv:UnspecifiedMatching MONDO:0024548 peeling skin syndrome 1 skos:exactMatch UMLS:C5679693 semapv:UnspecifiedMatching MONDO:0024549 microphthalmia with coloboma 1 skos:exactMatch MEDGEN:337338 semapv:UnspecifiedMatching MONDO:0024549 microphthalmia with coloboma 1 skos:exactMatch OMIM:300345 microphthalmia/coloboma 1 semapv:UnspecifiedMatching MONDO:0024549 microphthalmia with coloboma 1 skos:exactMatch UMLS:C1845877 semapv:UnspecifiedMatching MONDO:0024550 frontometaphyseal dysplasia 1 skos:exactMatch DOID:0111786 frontometaphyseal dysplasia 1 semapv:UnspecifiedMatching MONDO:0024550 frontometaphyseal dysplasia 1 skos:exactMatch MEDGEN:923943 semapv:UnspecifiedMatching MONDO:0024550 frontometaphyseal dysplasia 1 skos:exactMatch OMIM:305620 frontometaphyseal dysplasia 1 semapv:UnspecifiedMatching MONDO:0024550 frontometaphyseal dysplasia 1 skos:exactMatch UMLS:C4281559 semapv:UnspecifiedMatching MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:exactMatch MEDGEN:1770239 semapv:UnspecifiedMatching MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:exactMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:UnspecifiedMatching MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:exactMatch Orphanet:538931 X-linked lymphoproliferative disease due to SAP deficiency semapv:UnspecifiedMatching MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:exactMatch UMLS:C5399825 semapv:UnspecifiedMatching MONDO:0024552 linear skin defects with multiple congenital anomalies 1 skos:exactMatch DOID:0111808 linear skin defects with multiple congenital anomalies 1 semapv:UnspecifiedMatching MONDO:0024552 linear skin defects with multiple congenital anomalies 1 skos:exactMatch MEDGEN:163210 semapv:UnspecifiedMatching MONDO:0024552 linear skin defects with multiple congenital anomalies 1 skos:exactMatch OMIM:309801 linear skin defects with multiple congenital anomalies 1 semapv:UnspecifiedMatching MONDO:0024552 linear skin defects with multiple congenital anomalies 1 skos:exactMatch UMLS:C0796070 semapv:UnspecifiedMatching MONDO:0024553 myopathy, lactic acidosis, and sideroblastic anemia 1 skos:exactMatch DOID:0111185 myopathy, lactic acidosis, and sideroblastic anemia 1 semapv:UnspecifiedMatching MONDO:0024553 myopathy, lactic acidosis, and sideroblastic anemia 1 skos:exactMatch MEDGEN:1634824 semapv:UnspecifiedMatching MONDO:0024553 myopathy, lactic acidosis, and sideroblastic anemia 1 skos:exactMatch OMIM:600462 myopathy, lactic acidosis, and sideroblastic anemia 1 semapv:UnspecifiedMatching MONDO:0024553 myopathy, lactic acidosis, and sideroblastic anemia 1 skos:exactMatch UMLS:C4551958 semapv:UnspecifiedMatching MONDO:0024554 D-2-hydroxyglutaric aciduria 1 skos:exactMatch DOID:0111351 D-2-hydroxyglutaric aciduria 1 semapv:UnspecifiedMatching MONDO:0024554 D-2-hydroxyglutaric aciduria 1 skos:exactMatch MEDGEN:463405 semapv:UnspecifiedMatching MONDO:0024554 D-2-hydroxyglutaric aciduria 1 skos:exactMatch OMIM:600721 d-2-hydroxyglutaric aciduria 1 semapv:UnspecifiedMatching MONDO:0024554 D-2-hydroxyglutaric aciduria 1 skos:exactMatch UMLS:C3152055 semapv:UnspecifiedMatching MONDO:0024555 megalencephalic leukoencephalopathy with subcortical cysts 1 skos:exactMatch DOID:0080316 megalencephalic leukoencephalopathy with subcortical cysts 1 semapv:UnspecifiedMatching MONDO:0024555 megalencephalic leukoencephalopathy with subcortical cysts 1 skos:exactMatch MEDGEN:1826136 semapv:UnspecifiedMatching MONDO:0024555 megalencephalic leukoencephalopathy with subcortical cysts 1 skos:exactMatch OMIM:604004 megalencephalic leukoencephalopathy with subcortical cysts 1 semapv:UnspecifiedMatching MONDO:0024555 megalencephalic leukoencephalopathy with subcortical cysts 1 skos:exactMatch UMLS:C5779875 semapv:UnspecifiedMatching MONDO:0024556 epilepsy, familial focal, with variable foci 1 skos:exactMatch DOID:0081421 familial focal epilepsy with variable foci 1 semapv:UnspecifiedMatching MONDO:0024556 epilepsy, familial focal, with variable foci 1 skos:exactMatch MEDGEN:1641798 semapv:UnspecifiedMatching MONDO:0024556 epilepsy, familial focal, with variable foci 1 skos:exactMatch NCIT:C161005 Familial Focal Epilepsy with Variable Foci 1 semapv:UnspecifiedMatching MONDO:0024556 epilepsy, familial focal, with variable foci 1 skos:exactMatch OMIM:604364 epilepsy, familial focal, with variable foci 1 semapv:UnspecifiedMatching MONDO:0024556 epilepsy, familial focal, with variable foci 1 skos:exactMatch UMLS:C4551983 semapv:UnspecifiedMatching MONDO:0024557 ataxia-telangiectasia-like disorder 1 skos:exactMatch DOID:0081384 ataxia-telangiectasia-like disorder 1 semapv:UnspecifiedMatching MONDO:0024557 ataxia-telangiectasia-like disorder 1 skos:exactMatch MEDGEN:861227 semapv:UnspecifiedMatching MONDO:0024557 ataxia-telangiectasia-like disorder 1 skos:exactMatch NCIT:C132224 Ataxia-Telangiectasia-Like Disorder 1 semapv:UnspecifiedMatching MONDO:0024557 ataxia-telangiectasia-like disorder 1 skos:exactMatch OMIM:604391 ataxia-telangiectasia-like disorder 1 semapv:UnspecifiedMatching MONDO:0024557 ataxia-telangiectasia-like disorder 1 skos:exactMatch Orphanet:251347 Ataxia-telangiectasia-like disorder semapv:UnspecifiedMatching MONDO:0024557 ataxia-telangiectasia-like disorder 1 skos:exactMatch UMLS:C4012790 semapv:UnspecifiedMatching MONDO:0024558 radioulnar synostosis with amegakaryocytic thrombocytopenia 1 skos:exactMatch MEDGEN:1637913 semapv:UnspecifiedMatching MONDO:0024558 radioulnar synostosis with amegakaryocytic thrombocytopenia 1 skos:exactMatch OMIM:605432 radioulnar synostosis with amegakaryocytic thrombocytopenia 1 semapv:UnspecifiedMatching MONDO:0024558 radioulnar synostosis with amegakaryocytic thrombocytopenia 1 skos:exactMatch UMLS:C4551975 semapv:UnspecifiedMatching MONDO:0024559 aortic aneurysm, familial thoracic 1 skos:exactMatch MEDGEN:91038 semapv:UnspecifiedMatching MONDO:0024559 aortic aneurysm, familial thoracic 1 skos:exactMatch OMIM:607086 aortic aneurysm, familial thoracic 1 semapv:UnspecifiedMatching MONDO:0024559 aortic aneurysm, familial thoracic 1 skos:exactMatch Orphanet:229 Familial aortic dissection semapv:UnspecifiedMatching MONDO:0024559 aortic aneurysm, familial thoracic 1 skos:exactMatch UMLS:C0345050 semapv:UnspecifiedMatching MONDO:0024559 aortic aneurysm, familial thoracic 1 skos:exactMatch mesh:C562834 semapv:UnspecifiedMatching MONDO:0024560 PDA1 skos:exactMatch MEDGEN:924232 semapv:UnspecifiedMatching MONDO:0024560 PDA1 skos:exactMatch OMIM:607411 patent ductus arteriosus 1 semapv:UnspecifiedMatching MONDO:0024560 PDA1 skos:exactMatch UMLS:C4282128 semapv:UnspecifiedMatching MONDO:0024561 vitelliform macular dystrophy 3 skos:exactMatch OMIM:608161 macular dystrophy, vitelliform, 3 semapv:UnspecifiedMatching MONDO:0024562 sick sinus syndrome 1 skos:exactMatch MEDGEN:325270 semapv:UnspecifiedMatching MONDO:0024562 sick sinus syndrome 1 skos:exactMatch OMIM:608567 sick sinus syndrome 1 semapv:UnspecifiedMatching MONDO:0024562 sick sinus syndrome 1 skos:exactMatch UMLS:C1837845 semapv:UnspecifiedMatching MONDO:0024563 herpes simplex encephalitis, susceptibility to, 1 skos:exactMatch MEDGEN:413772 semapv:UnspecifiedMatching MONDO:0024563 herpes simplex encephalitis, susceptibility to, 1 skos:exactMatch OMIM:610551 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0024563 herpes simplex encephalitis, susceptibility to, 1 skos:exactMatch UMLS:C2750180 semapv:UnspecifiedMatching MONDO:0024564 cerebroretinal microangiopathy with calcifications and cysts 1 skos:exactMatch MEDGEN:1636142 semapv:UnspecifiedMatching MONDO:0024564 cerebroretinal microangiopathy with calcifications and cysts 1 skos:exactMatch OMIM:612199 cerebroretinal microangiopathy with calcifications and cysts 1 semapv:UnspecifiedMatching MONDO:0024564 cerebroretinal microangiopathy with calcifications and cysts 1 skos:exactMatch UMLS:C4552029 semapv:UnspecifiedMatching MONDO:0024565 ectodermal dysplasia-syndactyly syndrome 1 skos:exactMatch MEDGEN:462157 semapv:UnspecifiedMatching MONDO:0024565 ectodermal dysplasia-syndactyly syndrome 1 skos:exactMatch OMIM:613573 ectodermal dysplasia-syndactyly syndrome 1 semapv:UnspecifiedMatching MONDO:0024565 ectodermal dysplasia-syndactyly syndrome 1 skos:exactMatch UMLS:C3150807 semapv:UnspecifiedMatching MONDO:0024566 febrile seizures, familial, 11 skos:exactMatch DOID:0111308 familial febrile seizures 11 semapv:UnspecifiedMatching MONDO:0024566 febrile seizures, familial, 11 skos:exactMatch MEDGEN:482364 semapv:UnspecifiedMatching MONDO:0024566 febrile seizures, familial, 11 skos:exactMatch OMIM:614418 febrile seizures, familial, 11 semapv:UnspecifiedMatching MONDO:0024566 febrile seizures, familial, 11 skos:exactMatch UMLS:C3280734 semapv:UnspecifiedMatching MONDO:0024567 hypotonia, infantile, with psychomotor retardation and characteristic facies 1 skos:exactMatch MEDGEN:815784 semapv:UnspecifiedMatching MONDO:0024567 hypotonia, infantile, with psychomotor retardation and characteristic facies 1 skos:exactMatch OMIM:615419 hypotonia, infantile, with psychomotor retardation and characteristic facies 1 semapv:UnspecifiedMatching MONDO:0024567 hypotonia, infantile, with psychomotor retardation and characteristic facies 1 skos:exactMatch Orphanet:700336 Hypotonia-speech impairment-severe cognitive delay syndrome due to NALCN deficiency semapv:UnspecifiedMatching MONDO:0024567 hypotonia, infantile, with psychomotor retardation and characteristic facies 1 skos:exactMatch UMLS:C3809454 semapv:UnspecifiedMatching MONDO:0024568 infantile liver failure syndrome 1 skos:exactMatch DOID:0080717 infantile liver failure syndrome 1 semapv:UnspecifiedMatching MONDO:0024568 infantile liver failure syndrome 1 skos:exactMatch MEDGEN:815852 semapv:UnspecifiedMatching MONDO:0024568 infantile liver failure syndrome 1 skos:exactMatch OMIM:615438 infantile liver failure syndrome 1 semapv:UnspecifiedMatching MONDO:0024568 infantile liver failure syndrome 1 skos:exactMatch Orphanet:370088 Acute infantile liver failure-multisystemic involvement syndrome semapv:UnspecifiedMatching MONDO:0024568 infantile liver failure syndrome 1 skos:exactMatch UMLS:C3809522 semapv:UnspecifiedMatching MONDO:0024569 optic atrophy 8 skos:exactMatch DOID:0111439 optic atrophy 8 semapv:UnspecifiedMatching MONDO:0024569 optic atrophy 8 skos:exactMatch MEDGEN:898923 semapv:UnspecifiedMatching MONDO:0024569 optic atrophy 8 skos:exactMatch OMIM:616648 optic atrophy 8 semapv:UnspecifiedMatching MONDO:0024569 optic atrophy 8 skos:exactMatch UMLS:C4085249 semapv:UnspecifiedMatching MONDO:0024570 hyperparathyroidism 4 skos:exactMatch MEDGEN:1386327 semapv:UnspecifiedMatching MONDO:0024570 hyperparathyroidism 4 skos:exactMatch OMIM:617343 hyperparathyroidism 4 semapv:UnspecifiedMatching MONDO:0024570 hyperparathyroidism 4 skos:exactMatch UMLS:C4479229 semapv:UnspecifiedMatching MONDO:0024571 AIDS-related disorder skos:exactMatch EFO:0009528 semapv:UnspecifiedMatching MONDO:0024571 AIDS-related disorder skos:exactMatch MEDGEN:852920 semapv:UnspecifiedMatching MONDO:0024571 AIDS-related disorder skos:exactMatch NCIT:C4991 AIDS-Related Disorder semapv:UnspecifiedMatching MONDO:0024571 AIDS-related disorder skos:exactMatch UMLS:C0877121 semapv:UnspecifiedMatching MONDO:0024572 immunodeficiency-related disorder skos:exactMatch MEDGEN:232641 semapv:UnspecifiedMatching MONDO:0024572 immunodeficiency-related disorder skos:exactMatch NCIT:C35686 Immunodeficiency-Related Disorder semapv:UnspecifiedMatching MONDO:0024572 immunodeficiency-related disorder skos:exactMatch UMLS:C1334159 semapv:UnspecifiedMatching MONDO:0024573 familial hypertrophic cardiomyopathy skos:exactMatch DOID:0080326 familial hypertrophic cardiomyopathy semapv:UnspecifiedMatching MONDO:0024573 familial hypertrophic cardiomyopathy skos:exactMatch MEDGEN:183649 semapv:UnspecifiedMatching MONDO:0024573 familial hypertrophic cardiomyopathy skos:exactMatch NCIT:C84773 Familial Hypertrophic Cardiomyopathy semapv:UnspecifiedMatching MONDO:0024573 familial hypertrophic cardiomyopathy skos:exactMatch OMIMPS:192600 Cardiomyopathy, familial hypertrophic semapv:UnspecifiedMatching MONDO:0024573 familial hypertrophic cardiomyopathy skos:exactMatch SCTID:471885006 semapv:UnspecifiedMatching MONDO:0024573 familial hypertrophic cardiomyopathy skos:exactMatch UMLS:C0949658 semapv:UnspecifiedMatching MONDO:0024573 familial hypertrophic cardiomyopathy skos:exactMatch icd11.foundation:1408928442 Familial-genetic hypertrophic cardiomyopathy semapv:UnspecifiedMatching MONDO:0024573 familial hypertrophic cardiomyopathy skos:exactMatch mesh:D024741 semapv:UnspecifiedMatching MONDO:0024574 von Willebrand disease (hereditary or acquired) skos:exactMatch ICD10CM:D68.0 Von Willebrand disease semapv:UnspecifiedMatching MONDO:0024574 von Willebrand disease (hereditary or acquired) skos:exactMatch MEDGEN:22686 semapv:UnspecifiedMatching MONDO:0024574 von Willebrand disease (hereditary or acquired) skos:exactMatch NCIT:C68677 von Willebrand Disease semapv:UnspecifiedMatching MONDO:0024574 von Willebrand disease (hereditary or acquired) skos:exactMatch SCTID:128105004 semapv:UnspecifiedMatching MONDO:0024574 von Willebrand disease (hereditary or acquired) skos:exactMatch UMLS:C0042974 semapv:UnspecifiedMatching MONDO:0024574 von Willebrand disease (hereditary or acquired) skos:exactMatch mesh:D014842 semapv:UnspecifiedMatching MONDO:0024575 pregnancy disorder skos:exactMatch EFO:0009682 semapv:UnspecifiedMatching MONDO:0024575 pregnancy disorder skos:exactMatch MEDGEN:56248 semapv:UnspecifiedMatching MONDO:0024575 pregnancy disorder skos:exactMatch NCIT:C35169 Pregnancy Disorder semapv:UnspecifiedMatching MONDO:0024575 pregnancy disorder skos:exactMatch SCTID:173300003 semapv:UnspecifiedMatching MONDO:0024575 pregnancy disorder skos:exactMatch UMLS:C0151864 semapv:UnspecifiedMatching MONDO:0024575 pregnancy disorder skos:exactMatch mesh:D011248 semapv:UnspecifiedMatching MONDO:0024582 male reproductive system neoplasm skos:exactMatch MEDGEN:42196 semapv:UnspecifiedMatching MONDO:0024582 male reproductive system neoplasm skos:exactMatch NCIT:C3054 Male Reproductive System Neoplasm semapv:UnspecifiedMatching MONDO:0024582 male reproductive system neoplasm skos:exactMatch SCTID:126895004 semapv:UnspecifiedMatching MONDO:0024582 male reproductive system neoplasm skos:exactMatch UMLS:C0017417 semapv:UnspecifiedMatching MONDO:0024583 obsolete hernia skos:exactMatch ICD10CM:K40-K46 Hernia (K40-K46) semapv:UnspecifiedMatching MONDO:0024583 obsolete hernia skos:exactMatch NCIT:C34685 Hernia semapv:UnspecifiedMatching MONDO:0024583 obsolete hernia skos:exactMatch mesh:D006547 semapv:UnspecifiedMatching MONDO:0024607 congenital muscular dystrophy with cataracts and intellectual disability skos:exactMatch DOID:0080197 congenital muscular dystrophy with cataracts and intellectual disability semapv:UnspecifiedMatching MONDO:0024607 congenital muscular dystrophy with cataracts and intellectual disability skos:exactMatch MEDGEN:1382291 semapv:UnspecifiedMatching MONDO:0024607 congenital muscular dystrophy with cataracts and intellectual disability skos:exactMatch OMIM:617404 muscular dystrophy, congenital, with cataracts and impaired intellectual development semapv:UnspecifiedMatching MONDO:0024607 congenital muscular dystrophy with cataracts and intellectual disability skos:exactMatch Orphanet:662184 Congenital muscular dystrophy-cataract-intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0024607 congenital muscular dystrophy with cataracts and intellectual disability skos:exactMatch UMLS:C4479410 semapv:UnspecifiedMatching MONDO:0024608 dientamoebiasis skos:exactMatch DOID:946 dientamoebiasis semapv:UnspecifiedMatching MONDO:0024608 dientamoebiasis skos:exactMatch MEDGEN:41551 semapv:UnspecifiedMatching MONDO:0024608 dientamoebiasis skos:exactMatch SCTID:67915005 semapv:UnspecifiedMatching MONDO:0024608 dientamoebiasis skos:exactMatch UMLS:C0012147 semapv:UnspecifiedMatching MONDO:0024608 dientamoebiasis skos:exactMatch mesh:D004030 semapv:UnspecifiedMatching MONDO:0024609 vulvar squamous cell carcinoma skos:exactMatch DOID:2101 vulva squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0024609 vulvar squamous cell carcinoma skos:exactMatch EFO:1000624 semapv:UnspecifiedMatching MONDO:0024609 vulvar squamous cell carcinoma skos:exactMatch MEDGEN:79201 semapv:UnspecifiedMatching MONDO:0024609 vulvar squamous cell carcinoma skos:exactMatch NCIT:C4052 Vulvar Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0024609 vulvar squamous cell carcinoma skos:exactMatch Orphanet:494448 Vulvar squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0024609 vulvar squamous cell carcinoma skos:exactMatch SCTID:254895003 semapv:UnspecifiedMatching MONDO:0024609 vulvar squamous cell carcinoma skos:exactMatch UMLS:C0280856 semapv:UnspecifiedMatching MONDO:0024609 vulvar squamous cell carcinoma skos:exactMatch icd11.foundation:146824338 Squamous cell carcinoma of vulva semapv:UnspecifiedMatching MONDO:0024610 parasitic skin disorder skos:exactMatch MEDGEN:20780 semapv:UnspecifiedMatching MONDO:0024610 parasitic skin disorder skos:exactMatch UMLS:C0037280 semapv:UnspecifiedMatching MONDO:0024610 parasitic skin disorder skos:exactMatch mesh:D012876 semapv:UnspecifiedMatching MONDO:0024611 orbit neoplasm skos:exactMatch MEDGEN:18190 semapv:UnspecifiedMatching MONDO:0024611 orbit neoplasm skos:exactMatch NCIT:C3290 Orbital Neoplasm semapv:UnspecifiedMatching MONDO:0024611 orbit neoplasm skos:exactMatch UMLS:C0029185 semapv:UnspecifiedMatching MONDO:0024612 manic bipolar affective disorder skos:exactMatch MEDGEN:7460 semapv:UnspecifiedMatching MONDO:0024612 manic bipolar affective disorder skos:exactMatch NCIT:C34805 Manic Bipolar Affective Disorder semapv:UnspecifiedMatching MONDO:0024612 manic bipolar affective disorder skos:exactMatch SCTID:191618007 semapv:UnspecifiedMatching MONDO:0024612 manic bipolar affective disorder skos:exactMatch UMLS:C0024713 semapv:UnspecifiedMatching MONDO:0024613 bipolar depression skos:exactMatch MEDGEN:585 semapv:UnspecifiedMatching MONDO:0024613 bipolar depression skos:exactMatch NCIT:C34424 Bipolar Depression semapv:UnspecifiedMatching MONDO:0024613 bipolar depression skos:exactMatch SCTID:191627008 semapv:UnspecifiedMatching MONDO:0024613 bipolar depression skos:exactMatch UMLS:C0005587 semapv:UnspecifiedMatching MONDO:0024614 neurotic depression skos:exactMatch MEDGEN:76370 semapv:UnspecifiedMatching MONDO:0024614 neurotic depression skos:exactMatch NCIT:C35369 Neurotic Depression semapv:UnspecifiedMatching MONDO:0024614 neurotic depression skos:exactMatch UMLS:C0282126 semapv:UnspecifiedMatching MONDO:0024615 T-cell and NK-cell neoplasm skos:exactMatch MEDGEN:277781 semapv:UnspecifiedMatching MONDO:0024615 T-cell and NK-cell neoplasm skos:exactMatch NCIT:C27908 T-Cell and NK-Cell Neoplasm semapv:UnspecifiedMatching MONDO:0024615 T-cell and NK-cell neoplasm skos:exactMatch UMLS:C1336554 semapv:UnspecifiedMatching MONDO:0024616 tympanitis skos:exactMatch MEDGEN:507971 semapv:UnspecifiedMatching MONDO:0024616 tympanitis skos:exactMatch SCTID:14852000 semapv:UnspecifiedMatching MONDO:0024616 tympanitis skos:exactMatch UMLS:C0027134 semapv:UnspecifiedMatching MONDO:0024616 tympanitis skos:exactMatch icd11.foundation:225078522 Tympanitis semapv:UnspecifiedMatching MONDO:0024617 xanthogranuloma skos:exactMatch MEDGEN:1717859 semapv:UnspecifiedMatching MONDO:0024617 xanthogranuloma skos:exactMatch NCIT:C27302 Reactive Xanthogranuloma semapv:UnspecifiedMatching MONDO:0024617 xanthogranuloma skos:exactMatch SCTID:189099001 semapv:UnspecifiedMatching MONDO:0024617 xanthogranuloma skos:exactMatch UMLS:C5234857 semapv:UnspecifiedMatching MONDO:0024618 poliovirus infection skos:exactMatch MEDGEN:928804 semapv:UnspecifiedMatching MONDO:0024618 poliovirus infection skos:exactMatch SCTID:721764008 semapv:UnspecifiedMatching MONDO:0024618 poliovirus infection skos:exactMatch UMLS:C4303135 semapv:UnspecifiedMatching MONDO:0024619 central nervous system infectious disorder skos:exactMatch EFO:1001456 semapv:UnspecifiedMatching MONDO:0024619 central nervous system infectious disorder skos:exactMatch MEDGEN:1684837 semapv:UnspecifiedMatching MONDO:0024619 central nervous system infectious disorder skos:exactMatch NCIT:C27582 Central Nervous System Infectious Disorder semapv:UnspecifiedMatching MONDO:0024619 central nervous system infectious disorder skos:exactMatch SCTID:128117002 semapv:UnspecifiedMatching MONDO:0024619 central nervous system infectious disorder skos:exactMatch UMLS:C4759823 semapv:UnspecifiedMatching MONDO:0024619 central nervous system infectious disorder skos:exactMatch mesh:D002494 semapv:UnspecifiedMatching MONDO:0024620 meningitis caused by poliovirus skos:exactMatch MEDGEN:928803 semapv:UnspecifiedMatching MONDO:0024620 meningitis caused by poliovirus skos:exactMatch SCTID:721765009 semapv:UnspecifiedMatching MONDO:0024620 meningitis caused by poliovirus skos:exactMatch UMLS:C4303134 semapv:UnspecifiedMatching MONDO:0024621 serous cystadenocarcinoma skos:exactMatch MEDGEN:60212 semapv:UnspecifiedMatching MONDO:0024621 serous cystadenocarcinoma skos:exactMatch NCIT:C3778 Serous Cystadenocarcinoma semapv:UnspecifiedMatching MONDO:0024621 serous cystadenocarcinoma skos:exactMatch UMLS:C0206701 semapv:UnspecifiedMatching MONDO:0024622 thyroid gland adenocarcinoma skos:exactMatch DOID:0080524 thyroid gland adenocarcinoma semapv:UnspecifiedMatching MONDO:0024622 thyroid gland adenocarcinoma skos:exactMatch MEDGEN:309935 semapv:UnspecifiedMatching MONDO:0024622 thyroid gland adenocarcinoma skos:exactMatch NCIT:C27380 Thyroid Gland Adenocarcinoma semapv:UnspecifiedMatching MONDO:0024622 thyroid gland adenocarcinoma skos:exactMatch UMLS:C1704228 semapv:UnspecifiedMatching MONDO:0024623 otorhinolaryngologic disease skos:exactMatch MEDGEN:583054 semapv:UnspecifiedMatching MONDO:0024623 otorhinolaryngologic disease skos:exactMatch NCIT:C118420 Otolaryngologic Disorder semapv:UnspecifiedMatching MONDO:0024623 otorhinolaryngologic disease skos:exactMatch SCTID:232208008 semapv:UnspecifiedMatching MONDO:0024623 otorhinolaryngologic disease skos:exactMatch UMLS:C0395797 semapv:UnspecifiedMatching MONDO:0024623 otorhinolaryngologic disease skos:exactMatch mesh:D010038 semapv:UnspecifiedMatching MONDO:0024624 obsolete atrophy of lacrimal gland skos:exactMatch SCTID:91951001 semapv:UnspecifiedMatching MONDO:0024625 disorder of lacrimal gland skos:exactMatch MEDGEN:536365 semapv:UnspecifiedMatching MONDO:0024625 disorder of lacrimal gland skos:exactMatch SCTID:95766002 semapv:UnspecifiedMatching MONDO:0024625 disorder of lacrimal gland skos:exactMatch UMLS:C0235228 semapv:UnspecifiedMatching MONDO:0024626 defective phagocytic cell engulfment skos:exactMatch MEDGEN:585050 semapv:UnspecifiedMatching MONDO:0024626 defective phagocytic cell engulfment skos:exactMatch SCTID:234585008 semapv:UnspecifiedMatching MONDO:0024626 defective phagocytic cell engulfment skos:exactMatch UMLS:C0398742 semapv:UnspecifiedMatching MONDO:0024627 phagocytic cell dysfunction skos:exactMatch MEDGEN:585044 semapv:UnspecifiedMatching MONDO:0024627 phagocytic cell dysfunction skos:exactMatch SCTID:302874002 semapv:UnspecifiedMatching MONDO:0024627 phagocytic cell dysfunction skos:exactMatch UMLS:C0398732 semapv:UnspecifiedMatching MONDO:0024630 defective phagocytic cell chemotaxis skos:exactMatch MEDGEN:585047 semapv:UnspecifiedMatching MONDO:0024630 defective phagocytic cell chemotaxis skos:exactMatch SCTID:234580003 semapv:UnspecifiedMatching MONDO:0024630 defective phagocytic cell chemotaxis skos:exactMatch UMLS:C0398735 semapv:UnspecifiedMatching MONDO:0024632 defective phagocytic cell opsonization skos:exactMatch MEDGEN:585045 semapv:UnspecifiedMatching MONDO:0024632 defective phagocytic cell opsonization skos:exactMatch SCTID:234578009 semapv:UnspecifiedMatching MONDO:0024632 defective phagocytic cell opsonization skos:exactMatch UMLS:C0398733 semapv:UnspecifiedMatching MONDO:0024633 hypertensive nephropathy skos:exactMatch MEDGEN:167258 semapv:UnspecifiedMatching MONDO:0024633 hypertensive nephropathy skos:exactMatch NCIT:C4757 Hypertensive Nephropathy semapv:UnspecifiedMatching MONDO:0024633 hypertensive nephropathy skos:exactMatch OMIM:608026 hypertensive nephropathy semapv:UnspecifiedMatching MONDO:0024633 hypertensive nephropathy skos:exactMatch SCTID:38481006 semapv:UnspecifiedMatching MONDO:0024633 hypertensive nephropathy skos:exactMatch UMLS:C0848548 semapv:UnspecifiedMatching MONDO:0024633 hypertensive nephropathy skos:exactMatch mesh:C563161 semapv:UnspecifiedMatching MONDO:0024634 large intestine disorder skos:exactMatch MEDGEN:574315 semapv:UnspecifiedMatching MONDO:0024634 large intestine disorder skos:exactMatch SCTID:119523007 semapv:UnspecifiedMatching MONDO:0024634 large intestine disorder skos:exactMatch UMLS:C0341321 semapv:UnspecifiedMatching MONDO:0024635 small intestine disorder skos:exactMatch MEDGEN:574283 semapv:UnspecifiedMatching MONDO:0024635 small intestine disorder skos:exactMatch SCTID:119522002 semapv:UnspecifiedMatching MONDO:0024635 small intestine disorder skos:exactMatch UMLS:C0341268 semapv:UnspecifiedMatching MONDO:0024636 inflammation of heart layer skos:exactMatch MEDGEN:163689 semapv:UnspecifiedMatching MONDO:0024636 inflammation of heart layer skos:exactMatch SCTID:399617002 semapv:UnspecifiedMatching MONDO:0024636 inflammation of heart layer skos:exactMatch UMLS:C0869523 semapv:UnspecifiedMatching MONDO:0024637 malignant soft tissue neoplasm skos:exactMatch MEDGEN:1632429 semapv:UnspecifiedMatching MONDO:0024637 malignant soft tissue neoplasm skos:exactMatch NCIT:C4867 Malignant Soft Tissue Neoplasm semapv:UnspecifiedMatching MONDO:0024637 malignant soft tissue neoplasm skos:exactMatch SCTID:269469005 semapv:UnspecifiedMatching MONDO:0024637 malignant soft tissue neoplasm skos:exactMatch UMLS:C4551686 semapv:UnspecifiedMatching MONDO:0024638 pancreatic gastrinoma skos:exactMatch MEDGEN:1849954 semapv:UnspecifiedMatching MONDO:0024638 pancreatic gastrinoma skos:exactMatch NCIT:C95596 Pancreatic Gastrinoma semapv:UnspecifiedMatching MONDO:0024638 pancreatic gastrinoma skos:exactMatch UMLS:C5848106 semapv:UnspecifiedMatching MONDO:0024639 gastric enterochromaffin cell serotonin-producing neuroendocrine tumor skos:exactMatch MEDGEN:475770 semapv:UnspecifiedMatching MONDO:0024639 gastric enterochromaffin cell serotonin-producing neuroendocrine tumor skos:exactMatch NCIT:C27443 Gastric Enterochromaffin Cell Serotonin-Producing Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO:0024639 gastric enterochromaffin cell serotonin-producing neuroendocrine tumor skos:exactMatch UMLS:C3274137 semapv:UnspecifiedMatching MONDO:0024642 gastric neuroendocrine tumor G2 skos:exactMatch MEDGEN:474040 semapv:UnspecifiedMatching MONDO:0024642 gastric neuroendocrine tumor G2 skos:exactMatch NCIT:C95880 Gastric Neuroendocrine Tumor G2 semapv:UnspecifiedMatching MONDO:0024642 gastric neuroendocrine tumor G2 skos:exactMatch UMLS:C3272407 semapv:UnspecifiedMatching MONDO:0024643 myocardial disorder skos:exactMatch MEDGEN:469033 semapv:UnspecifiedMatching MONDO:0024643 myocardial disorder skos:exactMatch NCIT:C35544 Myocardial Disorder semapv:UnspecifiedMatching MONDO:0024643 myocardial disorder skos:exactMatch SCTID:57809008 semapv:UnspecifiedMatching MONDO:0024643 myocardial disorder skos:exactMatch UMLS:C3241958 semapv:UnspecifiedMatching MONDO:0024644 myocardial ischemia skos:exactMatch EFO:1001375 semapv:UnspecifiedMatching MONDO:0024644 myocardial ischemia skos:exactMatch ICD10CM:I20-I25 Ischemic heart diseases (I20-I25) semapv:UnspecifiedMatching MONDO:0024644 myocardial ischemia skos:exactMatch MEDGEN:101801 semapv:UnspecifiedMatching MONDO:0024644 myocardial ischemia skos:exactMatch NCIT:C50625 Ischemic Heart Disease semapv:UnspecifiedMatching MONDO:0024644 myocardial ischemia skos:exactMatch SCTID:414545008 semapv:UnspecifiedMatching MONDO:0024644 myocardial ischemia skos:exactMatch UMLS:C0151744 semapv:UnspecifiedMatching MONDO:0024644 myocardial ischemia skos:exactMatch icd11.foundation:1964269418 Ischaemic heart diseases semapv:UnspecifiedMatching MONDO:0024644 myocardial ischemia skos:exactMatch mesh:D017202 semapv:UnspecifiedMatching MONDO:0024645 retroperitoneal neoplasm skos:exactMatch MEDGEN:48439 semapv:UnspecifiedMatching MONDO:0024645 retroperitoneal neoplasm skos:exactMatch NCIT:C3357 Retroperitoneal Neoplasm semapv:UnspecifiedMatching MONDO:0024645 retroperitoneal neoplasm skos:exactMatch UMLS:C0035358 semapv:UnspecifiedMatching MONDO:0024646 obsolete refractory skos:exactMatch NCIT:C39752 Refractory Disease semapv:UnspecifiedMatching MONDO:0024647 urolithiasis skos:exactMatch DOID:0080653 urolithiasis semapv:UnspecifiedMatching MONDO:0024647 urolithiasis skos:exactMatch ICD10CM:N20-N23 Urolithiasis (N20-N23) semapv:UnspecifiedMatching MONDO:0024647 urolithiasis skos:exactMatch ICD10CM:N21 Calculus of lower urinary tract semapv:UnspecifiedMatching MONDO:0024647 urolithiasis skos:exactMatch ICD10WHO:N20-N23 Urolithiasis semapv:UnspecifiedMatching MONDO:0024647 urolithiasis skos:exactMatch MEDGEN:141536 semapv:UnspecifiedMatching MONDO:0024647 urolithiasis skos:exactMatch NCIT:C114688 Urolithiasis semapv:UnspecifiedMatching MONDO:0024647 urolithiasis skos:exactMatch SCTID:95566004 semapv:UnspecifiedMatching MONDO:0024647 urolithiasis skos:exactMatch UMLS:C0451641 semapv:UnspecifiedMatching MONDO:0024647 urolithiasis skos:exactMatch icd11.foundation:1746821938 Urolithiasis semapv:UnspecifiedMatching MONDO:0024647 urolithiasis skos:exactMatch mesh:D052878 semapv:UnspecifiedMatching MONDO:0024648 optic tract meningioma skos:exactMatch MEDGEN:234991 semapv:UnspecifiedMatching MONDO:0024648 optic tract meningioma skos:exactMatch NCIT:C5587 Visual Pathway Meningioma semapv:UnspecifiedMatching MONDO:0024648 optic tract meningioma skos:exactMatch UMLS:C1336972 semapv:UnspecifiedMatching MONDO:0024649 optic tract astrocytoma skos:exactMatch MEDGEN:237052 semapv:UnspecifiedMatching MONDO:0024649 optic tract astrocytoma skos:exactMatch NCIT:C7533 Visual Pathway Astrocytoma semapv:UnspecifiedMatching MONDO:0024649 optic tract astrocytoma skos:exactMatch UMLS:C1336971 semapv:UnspecifiedMatching MONDO:0024650 drug-induced osteoporosis skos:exactMatch MEDGEN:538336 semapv:UnspecifiedMatching MONDO:0024650 drug-induced osteoporosis skos:exactMatch SCTID:14651005 semapv:UnspecifiedMatching MONDO:0024650 drug-induced osteoporosis skos:exactMatch UMLS:C0264115 semapv:UnspecifiedMatching MONDO:0024650 drug-induced osteoporosis skos:exactMatch icd11.foundation:691296096 Drug-induced osteoporosis semapv:UnspecifiedMatching MONDO:0024651 corticosteroid-induced osteoporosis skos:exactMatch MEDGEN:695753 semapv:UnspecifiedMatching MONDO:0024651 corticosteroid-induced osteoporosis skos:exactMatch SCTID:390833005 semapv:UnspecifiedMatching MONDO:0024651 corticosteroid-induced osteoporosis skos:exactMatch UMLS:C1272167 semapv:UnspecifiedMatching MONDO:0024652 embryonic cyst of fallopian tube skos:exactMatch ICD10CM:Q50.4 Embryonic cyst of fallopian tube semapv:UnspecifiedMatching MONDO:0024652 embryonic cyst of fallopian tube skos:exactMatch MEDGEN:609068 semapv:UnspecifiedMatching MONDO:0024652 embryonic cyst of fallopian tube skos:exactMatch SCTID:302954008 semapv:UnspecifiedMatching MONDO:0024652 embryonic cyst of fallopian tube skos:exactMatch UMLS:C0431631 semapv:UnspecifiedMatching MONDO:0024652 embryonic cyst of fallopian tube skos:exactMatch icd11.foundation:440178290 Embryonic cyst of fallopian tube semapv:UnspecifiedMatching MONDO:0024653 skull neoplasm skos:exactMatch MEDGEN:11457 semapv:UnspecifiedMatching MONDO:0024653 skull neoplasm skos:exactMatch NCIT:C3375 Skull Neoplasm semapv:UnspecifiedMatching MONDO:0024653 skull neoplasm skos:exactMatch SCTID:126538005 semapv:UnspecifiedMatching MONDO:0024653 skull neoplasm skos:exactMatch UMLS:C0037305 semapv:UnspecifiedMatching MONDO:0024653 skull neoplasm skos:exactMatch mesh:D012888 semapv:UnspecifiedMatching MONDO:0024654 skull disorder skos:exactMatch MEDGEN:226937 semapv:UnspecifiedMatching MONDO:0024654 skull disorder skos:exactMatch NCIT:C27655 Skull Disorder semapv:UnspecifiedMatching MONDO:0024654 skull disorder skos:exactMatch SCTID:118945008 semapv:UnspecifiedMatching MONDO:0024654 skull disorder skos:exactMatch UMLS:C1290854 semapv:UnspecifiedMatching MONDO:0024655 rheumatic pericarditis skos:exactMatch MEDGEN:538808 semapv:UnspecifiedMatching MONDO:0024655 rheumatic pericarditis skos:exactMatch SCTID:28381002 semapv:UnspecifiedMatching MONDO:0024655 rheumatic pericarditis skos:exactMatch UMLS:C0264747 semapv:UnspecifiedMatching MONDO:0024656 colorectal lymphoma skos:exactMatch MEDGEN:474455 semapv:UnspecifiedMatching MONDO:0024656 colorectal lymphoma skos:exactMatch NCIT:C96498 Colorectal Lymphoma semapv:UnspecifiedMatching MONDO:0024656 colorectal lymphoma skos:exactMatch UMLS:C3272822 semapv:UnspecifiedMatching MONDO:0024657 obsolete macrocystic neurilemmoma skos:exactMatch DOID:3203 macrocystic neurilemmoma semapv:UnspecifiedMatching MONDO:0024658 extrahepatic bile duct sarcoma skos:exactMatch MEDGEN:473546 semapv:UnspecifiedMatching MONDO:0024658 extrahepatic bile duct sarcoma skos:exactMatch NCIT:C5029 Extrahepatic Bile Duct Sarcoma semapv:UnspecifiedMatching MONDO:0024658 extrahepatic bile duct sarcoma skos:exactMatch UMLS:C2205442 semapv:UnspecifiedMatching MONDO:0024659 colorectal Kaposi sarcoma skos:exactMatch MEDGEN:474466 semapv:UnspecifiedMatching MONDO:0024659 colorectal Kaposi sarcoma skos:exactMatch NCIT:C96510 Colorectal Kaposi Sarcoma semapv:UnspecifiedMatching MONDO:0024659 colorectal Kaposi sarcoma skos:exactMatch UMLS:C3272833 semapv:UnspecifiedMatching MONDO:0024660 tubular adenoma skos:exactMatch MEDGEN:83123 semapv:UnspecifiedMatching MONDO:0024660 tubular adenoma skos:exactMatch NCIT:C4133 Gastrointestinal Tract Tubular Adenoma semapv:UnspecifiedMatching MONDO:0024660 tubular adenoma skos:exactMatch SCTID:444408007 semapv:UnspecifiedMatching MONDO:0024660 tubular adenoma skos:exactMatch UMLS:C0334292 semapv:UnspecifiedMatching MONDO:0024661 tubulovillous adenoma skos:exactMatch MEDGEN:83125 semapv:UnspecifiedMatching MONDO:0024661 tubulovillous adenoma skos:exactMatch NCIT:C4143 Gastrointestinal Tract Tubulovillous Adenoma semapv:UnspecifiedMatching MONDO:0024661 tubulovillous adenoma skos:exactMatch UMLS:C0334307 semapv:UnspecifiedMatching MONDO:0024662 colorectal tubulovillous adenoma skos:exactMatch MEDGEN:234165 semapv:UnspecifiedMatching MONDO:0024662 colorectal tubulovillous adenoma skos:exactMatch NCIT:C5675 Colorectal Tubulovillous Adenoma semapv:UnspecifiedMatching MONDO:0024662 colorectal tubulovillous adenoma skos:exactMatch UMLS:C1333118 semapv:UnspecifiedMatching MONDO:0024663 primary skin meningioma skos:exactMatch MEDGEN:235494 semapv:UnspecifiedMatching MONDO:0024663 primary skin meningioma skos:exactMatch NCIT:C5277 Primary Cutaneous Meningioma semapv:UnspecifiedMatching MONDO:0024663 primary skin meningioma skos:exactMatch UMLS:C1335481 semapv:UnspecifiedMatching MONDO:0024664 hypertension, pregnancy-induced skos:exactMatch MEDGEN:852894 semapv:UnspecifiedMatching MONDO:0024664 hypertension, pregnancy-induced skos:exactMatch NCIT:C9243 Hypertension-Associated Pregnancy Disorder semapv:UnspecifiedMatching MONDO:0024664 hypertension, pregnancy-induced skos:exactMatch SCTID:48194001 semapv:UnspecifiedMatching MONDO:0024664 hypertension, pregnancy-induced skos:exactMatch UMLS:C0852036 semapv:UnspecifiedMatching MONDO:0024664 hypertension, pregnancy-induced skos:exactMatch mesh:D046110 semapv:UnspecifiedMatching MONDO:0024665 indeterminate sex and/or pseudohermaphroditism skos:exactMatch ICD10CM:Q56 Indeterminate sex and pseudohermaphroditism semapv:UnspecifiedMatching MONDO:0024665 indeterminate sex and/or pseudohermaphroditism skos:exactMatch MEDGEN:712820 semapv:UnspecifiedMatching MONDO:0024665 indeterminate sex and/or pseudohermaphroditism skos:exactMatch SCTID:268229003 semapv:UnspecifiedMatching MONDO:0024665 indeterminate sex and/or pseudohermaphroditism skos:exactMatch UMLS:C1290455 semapv:UnspecifiedMatching MONDO:0024666 benign epithelial skin neoplasm skos:exactMatch MEDGEN:83395 semapv:UnspecifiedMatching MONDO:0024666 benign epithelial skin neoplasm skos:exactMatch NCIT:C7341 Benign Skin Epithelial Neoplasm semapv:UnspecifiedMatching MONDO:0024666 benign epithelial skin neoplasm skos:exactMatch UMLS:C0345981 semapv:UnspecifiedMatching MONDO:0024673 skin lymphangioma skos:exactMatch MEDGEN:232399 semapv:UnspecifiedMatching MONDO:0024673 skin lymphangioma skos:exactMatch NCIT:C27509 Skin Lymphangioma semapv:UnspecifiedMatching MONDO:0024673 skin lymphangioma skos:exactMatch UMLS:C1333176 semapv:UnspecifiedMatching MONDO:0024674 Pancoast syndrome skos:exactMatch MEDGEN:10553 semapv:UnspecifiedMatching MONDO:0024674 Pancoast syndrome skos:exactMatch NCIT:C55815 Pancoast Syndrome semapv:UnspecifiedMatching MONDO:0024674 Pancoast syndrome skos:exactMatch SCTID:278065000 semapv:UnspecifiedMatching MONDO:0024674 Pancoast syndrome skos:exactMatch UMLS:C0030271 semapv:UnspecifiedMatching MONDO:0024674 Pancoast syndrome skos:exactMatch mesh:D010178 semapv:UnspecifiedMatching MONDO:0024675 adult kidney Wilms tumor skos:exactMatch MEDGEN:231045 semapv:UnspecifiedMatching MONDO:0024675 adult kidney Wilms tumor skos:exactMatch NCIT:C6180 Adult Kidney Wilms Tumor semapv:UnspecifiedMatching MONDO:0024675 adult kidney Wilms tumor skos:exactMatch UMLS:C1332219 semapv:UnspecifiedMatching MONDO:0024676 childhood kidney Wilms tumor skos:exactMatch MEDGEN:232073 semapv:UnspecifiedMatching MONDO:0024676 childhood kidney Wilms tumor skos:exactMatch NCIT:C27730 Childhood Kidney Wilms Tumor semapv:UnspecifiedMatching MONDO:0024676 childhood kidney Wilms tumor skos:exactMatch UMLS:C1333015 semapv:UnspecifiedMatching MONDO:0024677 pancreatic insulinoma skos:exactMatch DOID:3892 insulinoma semapv:UnspecifiedMatching MONDO:0024677 pancreatic insulinoma skos:exactMatch MEDGEN:43907 semapv:UnspecifiedMatching MONDO:0024677 pancreatic insulinoma skos:exactMatch NCIT:C95598 Pancreatic Insulinoma semapv:UnspecifiedMatching MONDO:0024677 pancreatic insulinoma skos:exactMatch SCTID:302822000 semapv:UnspecifiedMatching MONDO:0024677 pancreatic insulinoma skos:exactMatch UMLS:C0021670 semapv:UnspecifiedMatching MONDO:0024677 pancreatic insulinoma skos:exactMatch icd11.foundation:193813168 Pancreas insulinoma semapv:UnspecifiedMatching MONDO:0024677 pancreatic insulinoma skos:exactMatch mesh:D007340 semapv:UnspecifiedMatching MONDO:0024685 Philadelphia-positive myelogenous leukemia skos:exactMatch MEDGEN:9731 semapv:UnspecifiedMatching MONDO:0024685 Philadelphia-positive myelogenous leukemia skos:exactMatch NCIT:C3177 Myeloid Leukemia, Philadelphia-Positive semapv:UnspecifiedMatching MONDO:0024685 Philadelphia-positive myelogenous leukemia skos:exactMatch UMLS:C0023476 semapv:UnspecifiedMatching MONDO:0024686 tenosynovial giant cell tumor, diffuse type skos:exactMatch DOID:2702 pigmented villonodular synovitis semapv:UnspecifiedMatching MONDO:0024686 tenosynovial giant cell tumor, diffuse type skos:exactMatch DOID:9898 villonodular synovitis semapv:UnspecifiedMatching MONDO:0024686 tenosynovial giant cell tumor, diffuse type skos:exactMatch ICD10CM:M12.2 Villonodular synovitis (pigmented) semapv:UnspecifiedMatching MONDO:0024686 tenosynovial giant cell tumor, diffuse type skos:exactMatch MEDGEN:11691 semapv:UnspecifiedMatching MONDO:0024686 tenosynovial giant cell tumor, diffuse type skos:exactMatch NCIT:C3401 Tenosynovial Giant Cell Tumor, Diffuse Type semapv:UnspecifiedMatching MONDO:0024686 tenosynovial giant cell tumor, diffuse type skos:exactMatch Orphanet:66627 Tenosynovial giant cell tumor semapv:UnspecifiedMatching MONDO:0024686 tenosynovial giant cell tumor, diffuse type skos:exactMatch SCTID:95412009 semapv:UnspecifiedMatching MONDO:0024686 tenosynovial giant cell tumor, diffuse type skos:exactMatch UMLS:C0039106 semapv:UnspecifiedMatching MONDO:0024686 tenosynovial giant cell tumor, diffuse type skos:exactMatch mesh:D013586 semapv:UnspecifiedMatching MONDO:0024711 malignant mixed epithelial stromal tumor of the kidney skos:exactMatch MEDGEN:233156 semapv:UnspecifiedMatching MONDO:0024711 malignant mixed epithelial stromal tumor of the kidney skos:exactMatch NCIT:C37265 Malignant Mixed Epithelial and Stromal Tumor of the Kidney semapv:UnspecifiedMatching MONDO:0024711 malignant mixed epithelial stromal tumor of the kidney skos:exactMatch UMLS:C1334602 semapv:UnspecifiedMatching MONDO:0024715 benign synovial neoplasm skos:exactMatch MEDGEN:113161 semapv:UnspecifiedMatching MONDO:0024715 benign synovial neoplasm skos:exactMatch NCIT:C3829 Benign Synovial Neoplasm semapv:UnspecifiedMatching MONDO:0024715 benign synovial neoplasm skos:exactMatch UMLS:C0221289 semapv:UnspecifiedMatching MONDO:0024744 childhood choroid plexus neoplasm skos:exactMatch MEDGEN:76132 semapv:UnspecifiedMatching MONDO:0024744 childhood choroid plexus neoplasm skos:exactMatch NCIT:C42080 Childhood Choroid Plexus Neoplasm semapv:UnspecifiedMatching MONDO:0024744 childhood choroid plexus neoplasm skos:exactMatch UMLS:C0280623 semapv:UnspecifiedMatching MONDO:0024746 immature teratoma skos:exactMatch MEDGEN:90798 semapv:UnspecifiedMatching MONDO:0024746 immature teratoma skos:exactMatch NCIT:C4286 Immature Teratoma semapv:UnspecifiedMatching MONDO:0024746 immature teratoma skos:exactMatch UMLS:C0334520 semapv:UnspecifiedMatching MONDO:0024757 cardiovascular neoplasm skos:exactMatch MEDGEN:105422 semapv:UnspecifiedMatching MONDO:0024757 cardiovascular neoplasm skos:exactMatch NCIT:C4784 Cardiovascular Neoplasm semapv:UnspecifiedMatching MONDO:0024757 cardiovascular neoplasm skos:exactMatch SCTID:721573003 semapv:UnspecifiedMatching MONDO:0024757 cardiovascular neoplasm skos:exactMatch UMLS:C0497243 semapv:UnspecifiedMatching MONDO:0024770 autoinflammatory syndrome, familial, X-linked, Behcet-like 2 skos:exactMatch MEDGEN:1808082 semapv:UnspecifiedMatching MONDO:0024770 autoinflammatory syndrome, familial, X-linked, Behcet-like 2 skos:exactMatch OMIM:301074 autoinflammatory syndrome, familial, x-linked, behcet-like 2 semapv:UnspecifiedMatching MONDO:0024770 autoinflammatory syndrome, familial, X-linked, Behcet-like 2 skos:exactMatch Orphanet:676125 X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency semapv:UnspecifiedMatching MONDO:0024770 autoinflammatory syndrome, familial, X-linked, Behcet-like 2 skos:exactMatch UMLS:C5575495 semapv:UnspecifiedMatching MONDO:0024771 myopathy, distal, 7, adult-onset, X-linked skos:exactMatch MEDGEN:1808663 semapv:UnspecifiedMatching MONDO:0024771 myopathy, distal, 7, adult-onset, X-linked skos:exactMatch OMIM:301075 myopathy, distal, 7, adult-onset, X-linked semapv:UnspecifiedMatching MONDO:0024771 myopathy, distal, 7, adult-onset, X-linked skos:exactMatch Orphanet:700163 SMPX-related distal myopathy semapv:UnspecifiedMatching MONDO:0024771 myopathy, distal, 7, adult-onset, X-linked skos:exactMatch UMLS:C5676880 semapv:UnspecifiedMatching MONDO:0024772 intellectual developmental disorder, X-linked, syndromic, Pilorge type skos:exactMatch DOID:0070422 syndromic X-linked intellectual disability Pilorge type semapv:UnspecifiedMatching MONDO:0024772 intellectual developmental disorder, X-linked, syndromic, Pilorge type skos:exactMatch MEDGEN:1803486 semapv:UnspecifiedMatching MONDO:0024772 intellectual developmental disorder, X-linked, syndromic, Pilorge type skos:exactMatch OMIM:301076 intellectual developmental disorder, x-linked, syndromic, pilorge type semapv:UnspecifiedMatching MONDO:0024772 intellectual developmental disorder, X-linked, syndromic, Pilorge type skos:exactMatch UMLS:C5676881 semapv:UnspecifiedMatching MONDO:0024773 spermatogenic failure, X-linked, 4 skos:exactMatch DOID:0070595 X-linked spermatogenic failure 4 semapv:UnspecifiedMatching MONDO:0024773 spermatogenic failure, X-linked, 4 skos:exactMatch MEDGEN:1804024 semapv:UnspecifiedMatching MONDO:0024773 spermatogenic failure, X-linked, 4 skos:exactMatch OMIM:301077 spermatogenic failure, x-linked, 4 semapv:UnspecifiedMatching MONDO:0024773 spermatogenic failure, X-linked, 4 skos:exactMatch UMLS:C5676882 semapv:UnspecifiedMatching MONDO:0024777 immunodeficiency 98 with autoinflammation, X-linked skos:exactMatch DOID:0061068 immunodeficiency 98 semapv:UnspecifiedMatching MONDO:0024777 immunodeficiency 98 with autoinflammation, X-linked skos:exactMatch MEDGEN:1805285 semapv:UnspecifiedMatching MONDO:0024777 immunodeficiency 98 with autoinflammation, X-linked skos:exactMatch OMIM:301078 immunodeficiency 98 with autoinflammation, X-linked semapv:UnspecifiedMatching MONDO:0024777 immunodeficiency 98 with autoinflammation, X-linked skos:exactMatch Orphanet:675628 TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome semapv:UnspecifiedMatching MONDO:0024777 immunodeficiency 98 with autoinflammation, X-linked skos:exactMatch UMLS:C5676883 semapv:UnspecifiedMatching MONDO:0024781 immunodeficiency 102 skos:exactMatch DOID:0061072 immunodeficiency 102 semapv:UnspecifiedMatching MONDO:0024781 immunodeficiency 102 skos:exactMatch MEDGEN:1812534 semapv:UnspecifiedMatching MONDO:0024781 immunodeficiency 102 skos:exactMatch OMIM:301082 immunodeficiency 102 semapv:UnspecifiedMatching MONDO:0024781 immunodeficiency 102 skos:exactMatch Orphanet:653751 X-linked combined immunodeficiency due to SASH3 deficiency semapv:UnspecifiedMatching MONDO:0024781 immunodeficiency 102 skos:exactMatch UMLS:C5676886 semapv:UnspecifiedMatching MONDO:0024797 adult brain stem neoplasm skos:exactMatch MEDGEN:272292 semapv:UnspecifiedMatching MONDO:0024797 adult brain stem neoplasm skos:exactMatch NCIT:C5967 Adult Brain Stem Neoplasm semapv:UnspecifiedMatching MONDO:0024797 adult brain stem neoplasm skos:exactMatch UMLS:C1332192 semapv:UnspecifiedMatching MONDO:0024813 pulmonary sulcus neoplasm skos:exactMatch MEDGEN:277550 semapv:UnspecifiedMatching MONDO:0024813 pulmonary sulcus neoplasm skos:exactMatch NCIT:C27710 Pulmonary Sulcus Neoplasm semapv:UnspecifiedMatching MONDO:0024813 pulmonary sulcus neoplasm skos:exactMatch UMLS:C1335574 semapv:UnspecifiedMatching MONDO:0024857 immature extragonadal teratoma skos:exactMatch MEDGEN:167781 semapv:UnspecifiedMatching MONDO:0024857 immature extragonadal teratoma skos:exactMatch NCIT:C8884 Immature Extragonadal Teratoma semapv:UnspecifiedMatching MONDO:0024857 immature extragonadal teratoma skos:exactMatch UMLS:C0855163 semapv:UnspecifiedMatching MONDO:0024861 mixed teratoma and seminoma skos:exactMatch MEDGEN:1844722 semapv:UnspecifiedMatching MONDO:0024861 mixed teratoma and seminoma skos:exactMatch NCIT:C9010 Mixed Teratoma and Seminoma semapv:UnspecifiedMatching MONDO:0024861 mixed teratoma and seminoma skos:exactMatch UMLS:C5848073 semapv:UnspecifiedMatching MONDO:0024863 small size posterior uveal melanoma skos:exactMatch MEDGEN:75883 semapv:UnspecifiedMatching MONDO:0024863 small size posterior uveal melanoma skos:exactMatch NCIT:C9089 Small Size Posterior Uveal Melanoma semapv:UnspecifiedMatching MONDO:0024863 small size posterior uveal melanoma skos:exactMatch UMLS:C0278867 semapv:UnspecifiedMatching MONDO:0024864 medium/large size posterior uveal melanoma skos:exactMatch MEDGEN:124525 semapv:UnspecifiedMatching MONDO:0024864 medium/large size posterior uveal melanoma skos:exactMatch NCIT:C9090 Medium/Large Size Posterior Uveal Melanoma semapv:UnspecifiedMatching MONDO:0024864 medium/large size posterior uveal melanoma skos:exactMatch UMLS:C0278868 semapv:UnspecifiedMatching MONDO:0024868 metastatic carcinoma in the adrenal medulla skos:exactMatch MEDGEN:277362 semapv:UnspecifiedMatching MONDO:0024868 metastatic carcinoma in the adrenal medulla skos:exactMatch NCIT:C9276 Metastatic Carcinoma in the Adrenal Medulla semapv:UnspecifiedMatching MONDO:0024868 metastatic carcinoma in the adrenal medulla skos:exactMatch UMLS:C1334717 semapv:UnspecifiedMatching MONDO:0024873 clitoral carcinoma skos:exactMatch MEDGEN:234155 semapv:UnspecifiedMatching MONDO:0024873 clitoral carcinoma skos:exactMatch NCIT:C9362 Clitoral Carcinoma semapv:UnspecifiedMatching MONDO:0024873 clitoral carcinoma skos:exactMatch UMLS:C1333070 semapv:UnspecifiedMatching MONDO:0024876 tendon sheath disorder skos:exactMatch MEDGEN:675994 semapv:UnspecifiedMatching MONDO:0024876 tendon sheath disorder skos:exactMatch SCTID:312381009 semapv:UnspecifiedMatching MONDO:0024876 tendon sheath disorder skos:exactMatch UMLS:C0729734 semapv:UnspecifiedMatching MONDO:0024877 clitoris neoplasm skos:exactMatch MEDGEN:688068 semapv:UnspecifiedMatching MONDO:0024877 clitoris neoplasm skos:exactMatch SCTID:126925009 semapv:UnspecifiedMatching MONDO:0024877 clitoris neoplasm skos:exactMatch UMLS:C1263793 semapv:UnspecifiedMatching MONDO:0024878 secondary carcinoma skos:exactMatch MEDGEN:88450 semapv:UnspecifiedMatching MONDO:0024878 secondary carcinoma skos:exactMatch NCIT:C36310 Secondary Carcinoma semapv:UnspecifiedMatching MONDO:0024878 secondary carcinoma skos:exactMatch UMLS:C0085668 semapv:UnspecifiedMatching MONDO:0024879 metastatic carcinoma skos:exactMatch MEDGEN:235141 semapv:UnspecifiedMatching MONDO:0024879 metastatic carcinoma skos:exactMatch NCIT:C3482 Metastatic Carcinoma semapv:UnspecifiedMatching MONDO:0024879 metastatic carcinoma skos:exactMatch UMLS:C1384494 semapv:UnspecifiedMatching MONDO:0024879 metastatic carcinoma skos:exactMatch icd11.foundation:553023050 Metastatic carcinoma [primary carcinoma spreading elsewhere] semapv:UnspecifiedMatching MONDO:0024880 metastatic malignant neoplasm skos:exactMatch MEDGEN:422475 semapv:UnspecifiedMatching MONDO:0024880 metastatic malignant neoplasm skos:exactMatch NCIT:C36263 Metastatic Malignant Neoplasm semapv:UnspecifiedMatching MONDO:0024880 metastatic malignant neoplasm skos:exactMatch UMLS:C2939419 semapv:UnspecifiedMatching MONDO:0024880 metastatic malignant neoplasm skos:exactMatch icd11.foundation:1399468320 Metastatic cancer [primary cancer spreading elsewhere] semapv:UnspecifiedMatching MONDO:0024881 secondary malignant neoplasm skos:exactMatch EFO:0009812 semapv:UnspecifiedMatching MONDO:0024881 secondary malignant neoplasm skos:exactMatch MEDGEN:473807 semapv:UnspecifiedMatching MONDO:0024881 secondary malignant neoplasm skos:exactMatch NCIT:C4968 Secondary Malignant Neoplasm semapv:UnspecifiedMatching MONDO:0024881 secondary malignant neoplasm skos:exactMatch SCTID:128462008 semapv:UnspecifiedMatching MONDO:0024881 secondary malignant neoplasm skos:exactMatch UMLS:C3266877 semapv:UnspecifiedMatching MONDO:0024882 secondary neoplasm skos:exactMatch MEDGEN:1851572 semapv:UnspecifiedMatching MONDO:0024882 secondary neoplasm skos:exactMatch NCIT:C36255 Secondary Neoplasm semapv:UnspecifiedMatching MONDO:0024882 secondary neoplasm skos:exactMatch UMLS:C5848363 semapv:UnspecifiedMatching MONDO:0024883 metastatic neoplasm skos:exactMatch EFO:0009709 semapv:UnspecifiedMatching MONDO:0024883 metastatic neoplasm skos:exactMatch MEDGEN:422476 semapv:UnspecifiedMatching MONDO:0024883 metastatic neoplasm skos:exactMatch NCIT:C3261 Metastatic Neoplasm semapv:UnspecifiedMatching MONDO:0024883 metastatic neoplasm skos:exactMatch UMLS:C2939420 semapv:UnspecifiedMatching MONDO:0024884 metastatic carcinoma in the bone skos:exactMatch MEDGEN:195970 semapv:UnspecifiedMatching MONDO:0024884 metastatic carcinoma in the bone skos:exactMatch NCIT:C36082 Metastatic Carcinoma in the Bone semapv:UnspecifiedMatching MONDO:0024884 metastatic carcinoma in the bone skos:exactMatch UMLS:C0700110 semapv:UnspecifiedMatching MONDO:0024885 malignant ovarian serous tumor skos:exactMatch MEDGEN:309396 semapv:UnspecifiedMatching MONDO:0024885 malignant ovarian serous tumor skos:exactMatch NCIT:C40025 Malignant Ovarian Serous Tumor semapv:UnspecifiedMatching MONDO:0024885 malignant ovarian serous tumor skos:exactMatch UMLS:C1518234 semapv:UnspecifiedMatching MONDO:0024886 serous adenofibroma skos:exactMatch MEDGEN:87253 semapv:UnspecifiedMatching MONDO:0024886 serous adenofibroma skos:exactMatch NCIT:C67090 Serous Adenofibroma semapv:UnspecifiedMatching MONDO:0024886 serous adenofibroma skos:exactMatch UMLS:C0334498 semapv:UnspecifiedMatching MONDO:0024888 mesonephric neoplasm skos:exactMatch MEDGEN:137779 semapv:UnspecifiedMatching MONDO:0024888 mesonephric neoplasm skos:exactMatch UMLS:C0334531 semapv:UnspecifiedMatching MONDO:0024889 benign mesonephroma skos:exactMatch DOID:2616 Wolffian duct adenoma semapv:UnspecifiedMatching MONDO:0024889 benign mesonephroma skos:exactMatch MEDGEN:87259 semapv:UnspecifiedMatching MONDO:0024889 benign mesonephroma skos:exactMatch UMLS:C0334530 semapv:UnspecifiedMatching MONDO:0024890 pineal parenchymal cell neoplasm skos:exactMatch NCIT:C6965 Pineal Parenchymal Cell Neoplasm semapv:UnspecifiedMatching MONDO:0024891 non-infectious meningitis skos:exactMatch SCTID:230155003 semapv:UnspecifiedMatching MONDO:0024892 soft tissue amyloid neoplasm skos:exactMatch DOID:6755 amyloid tumor semapv:UnspecifiedMatching MONDO:0024892 soft tissue amyloid neoplasm skos:exactMatch NCIT:C8323 Amyloid Tumor semapv:UnspecifiedMatching MONDO:0024893 toxocara canis infection (canine roundworms) skos:exactMatch MEDGEN:419650 semapv:UnspecifiedMatching MONDO:0024893 toxocara canis infection (canine roundworms) skos:exactMatch UMLS:C2930846 semapv:UnspecifiedMatching MONDO:0024893 toxocara canis infection (canine roundworms) skos:exactMatch mesh:C531834 semapv:UnspecifiedMatching MONDO:0024905 bird disease skos:exactMatch mesh:D001715 semapv:UnspecifiedMatching MONDO:0024912 cat disease skos:exactMatch mesh:D002371 semapv:UnspecifiedMatching MONDO:0024913 cattle disease skos:exactMatch mesh:D002418 semapv:UnspecifiedMatching MONDO:0024919 dog disease skos:exactMatch mesh:D004283 semapv:UnspecifiedMatching MONDO:0024934 fish disease skos:exactMatch mesh:D005393 semapv:UnspecifiedMatching MONDO:0024935 foot rot skos:exactMatch mesh:D005535 semapv:UnspecifiedMatching MONDO:0024945 hepatitis, non-human animal skos:exactMatch mesh:D006520 semapv:UnspecifiedMatching MONDO:0024950 horse disease skos:exactMatch mesh:D006734 semapv:UnspecifiedMatching MONDO:0024953 lameness, non-human animal skos:exactMatch mesh:D007794 semapv:UnspecifiedMatching MONDO:0024954 larva migrans, visceral skos:exactMatch MEDGEN:9681 semapv:UnspecifiedMatching MONDO:0024954 larva migrans, visceral skos:exactMatch UMLS:C0023049 semapv:UnspecifiedMatching MONDO:0024954 larva migrans, visceral skos:exactMatch mesh:D007816 semapv:UnspecifiedMatching MONDO:0024965 muscular dystrophy, non-human animal skos:exactMatch mesh:D009137 semapv:UnspecifiedMatching MONDO:0024969 parasitic disease, non-human animal skos:exactMatch mesh:D010273 semapv:UnspecifiedMatching MONDO:0024971 parturient paresis skos:exactMatch SCTID:405256006 semapv:UnspecifiedMatching MONDO:0024971 parturient paresis skos:exactMatch mesh:D010319 semapv:UnspecifiedMatching MONDO:0024973 pneumonia, atypical interstitial, of cattle skos:exactMatch mesh:D011016 semapv:UnspecifiedMatching MONDO:0024981 rodent disease skos:exactMatch mesh:D012376 semapv:UnspecifiedMatching MONDO:0024982 salmonella infections, animal skos:exactMatch mesh:D012481 semapv:UnspecifiedMatching MONDO:0024985 sheep disease skos:exactMatch mesh:D012757 semapv:UnspecifiedMatching MONDO:0024987 obsolete genetic urogenital tract malformation skos:exactMatch Orphanet:156622 Genetic urogenital tract malformation semapv:UnspecifiedMatching MONDO:0024988 sex cord-stromal benign neoplasm skos:exactMatch DOID:0080368 sex cord-stromal benign neoplasm semapv:UnspecifiedMatching MONDO:0024990 swine disease skos:exactMatch mesh:D013553 semapv:UnspecifiedMatching MONDO:0024996 obsolete Usher syndrome, type 2b skos:exactMatch OMIM:276905 semapv:UnspecifiedMatching MONDO:0025003 goat disease skos:exactMatch mesh:D015511 semapv:UnspecifiedMatching MONDO:0025013 non-human primate disease skos:exactMatch mesh:D018419 semapv:UnspecifiedMatching MONDO:0025028 vesicular stomatitis skos:exactMatch SCTID:36921006 semapv:UnspecifiedMatching MONDO:0025028 vesicular stomatitis skos:exactMatch mesh:D054243 semapv:UnspecifiedMatching MONDO:0025030 digital dermatitis in cattle skos:exactMatch mesh:D058066 semapv:UnspecifiedMatching MONDO:0025061 edema disease of swine skos:exactMatch mesh:D004488 semapv:UnspecifiedMatching MONDO:0025062 encephalomyelitis, enzootic porcine skos:exactMatch mesh:D004682 semapv:UnspecifiedMatching MONDO:0025066 epidermitis, exudative, of swine skos:exactMatch mesh:D004818 semapv:UnspecifiedMatching MONDO:0025082 helminthiasis, animal skos:exactMatch mesh:D006374 semapv:UnspecifiedMatching MONDO:0025085 hepatitis, viral, animal skos:exactMatch mesh:D006524 semapv:UnspecifiedMatching MONDO:0025086 hip dysplasia, canine skos:exactMatch mesh:D006619 semapv:UnspecifiedMatching MONDO:0025087 classical swine fever skos:exactMatch mesh:D006691 semapv:UnspecifiedMatching MONDO:0025089 infectious bovine rhinotracheitis skos:exactMatch mesh:D007241 semapv:UnspecifiedMatching MONDO:0025095 malaria, avian skos:exactMatch mesh:D008289 semapv:UnspecifiedMatching MONDO:0025096 malignant catarrh skos:exactMatch SCTID:24043009 semapv:UnspecifiedMatching MONDO:0025096 malignant catarrh skos:exactMatch mesh:D008304 semapv:UnspecifiedMatching MONDO:0025100 mastitis, bovine skos:exactMatch mesh:D008414 semapv:UnspecifiedMatching MONDO:0025102 monkey disease skos:exactMatch mesh:D008992 semapv:UnspecifiedMatching MONDO:0025113 poultry disease skos:exactMatch mesh:D011201 semapv:UnspecifiedMatching MONDO:0025114 protozoan infections, animal skos:exactMatch mesh:D011529 semapv:UnspecifiedMatching MONDO:0025129 swine erysipelas skos:exactMatch mesh:D013554 semapv:UnspecifiedMatching MONDO:0025130 swine vesicular disease skos:exactMatch mesh:D013555 semapv:UnspecifiedMatching MONDO:0025135 tuberculosis, avian skos:exactMatch mesh:D014379 semapv:UnspecifiedMatching MONDO:0025136 tuberculosis, bovine skos:exactMatch mesh:D014380 semapv:UnspecifiedMatching MONDO:0025138 vesicular exanthema of swine skos:exactMatch mesh:D014720 semapv:UnspecifiedMatching MONDO:0025139 white muscle disease skos:exactMatch mesh:D014912 semapv:UnspecifiedMatching MONDO:0025149 encephalopathy, bovine spongiform skos:exactMatch mesh:D016643 semapv:UnspecifiedMatching MONDO:0025152 non-human ape disease skos:exactMatch mesh:D018420 semapv:UnspecifiedMatching MONDO:0025159 pneumonia of swine, mycoplasmal skos:exactMatch mesh:D045729 semapv:UnspecifiedMatching MONDO:0025163 white heifer disease skos:exactMatch SCTID:82642007 semapv:UnspecifiedMatching MONDO:0025163 white heifer disease skos:exactMatch mesh:D050072 semapv:UnspecifiedMatching MONDO:0025167 reticuloendotheliosis, avian skos:exactMatch mesh:D055761 semapv:UnspecifiedMatching MONDO:0025193 oculopharyngodistal myopathy skos:exactMatch DOID:0081296 oculopharyngodistal myopathy semapv:UnspecifiedMatching MONDO:0025193 oculopharyngodistal myopathy skos:exactMatch MEDGEN:320250 semapv:UnspecifiedMatching MONDO:0025193 oculopharyngodistal myopathy skos:exactMatch OMIMPS:164310 Oculopharyngodistal myopathy semapv:UnspecifiedMatching MONDO:0025193 oculopharyngodistal myopathy skos:exactMatch Orphanet:98897 Oculopharyngodistal myopathy semapv:UnspecifiedMatching MONDO:0025193 oculopharyngodistal myopathy skos:exactMatch SCTID:763829004 semapv:UnspecifiedMatching MONDO:0025193 oculopharyngodistal myopathy skos:exactMatch UMLS:C1834014 semapv:UnspecifiedMatching MONDO:0025193 oculopharyngodistal myopathy skos:exactMatch icd11.foundation:1493269618 Oculopharyngodistal myopathy semapv:UnspecifiedMatching MONDO:0025193 oculopharyngodistal myopathy skos:exactMatch mesh:C563508 semapv:UnspecifiedMatching MONDO:0025263 strongyle infections, equine skos:exactMatch mesh:D013319 semapv:UnspecifiedMatching MONDO:0025270 toxoplasmosis, non-human animal skos:exactMatch mesh:D014124 semapv:UnspecifiedMatching MONDO:0025271 trypanosomiasis, bovine skos:exactMatch mesh:D014354 semapv:UnspecifiedMatching MONDO:0025293 poult enteritis mortality syndrome skos:exactMatch mesh:D031261 semapv:UnspecifiedMatching MONDO:0025294 tick-borne infectious disease skos:exactMatch MEDGEN:56488 semapv:UnspecifiedMatching MONDO:0025294 tick-borne infectious disease skos:exactMatch UMLS:C0162700 semapv:UnspecifiedMatching MONDO:0025294 tick-borne infectious disease skos:exactMatch mesh:D017282 semapv:UnspecifiedMatching MONDO:0025351 multiple congenital anomalies-neurodevelopmental syndrome, X-linked skos:exactMatch MEDGEN:1788942 semapv:UnspecifiedMatching MONDO:0025351 multiple congenital anomalies-neurodevelopmental syndrome, X-linked skos:exactMatch OMIM:301056 multiple congenital anomalies-neurodevelopmental syndrome, X-linked semapv:UnspecifiedMatching MONDO:0025351 multiple congenital anomalies-neurodevelopmental syndrome, X-linked skos:exactMatch UMLS:C5542341 semapv:UnspecifiedMatching MONDO:0025353 developmental and epileptic encephalopathy, 90 skos:exactMatch DOID:0070381 developmental and epileptic encephalopathy 90 semapv:UnspecifiedMatching MONDO:0025353 developmental and epileptic encephalopathy, 90 skos:exactMatch MEDGEN:1786502 semapv:UnspecifiedMatching MONDO:0025353 developmental and epileptic encephalopathy, 90 skos:exactMatch OMIM:301058 developmental and epileptic encephalopathy 90 semapv:UnspecifiedMatching MONDO:0025353 developmental and epileptic encephalopathy, 90 skos:exactMatch UMLS:C5542345 semapv:UnspecifiedMatching MONDO:0025354 spermatogenic failure, X-linked, 3 skos:exactMatch DOID:0112274 X-linked spermatogenic failure 3 semapv:UnspecifiedMatching MONDO:0025354 spermatogenic failure, X-linked, 3 skos:exactMatch MEDGEN:1784059 semapv:UnspecifiedMatching MONDO:0025354 spermatogenic failure, X-linked, 3 skos:exactMatch OMIM:301059 spermatogenic failure, x-linked, 3 semapv:UnspecifiedMatching MONDO:0025354 spermatogenic failure, X-linked, 3 skos:exactMatch UMLS:C5542347 semapv:UnspecifiedMatching MONDO:0025356 azoospermia, obstructive, with nephrolithiasis skos:exactMatch MEDGEN:1779119 semapv:UnspecifiedMatching MONDO:0025356 azoospermia, obstructive, with nephrolithiasis skos:exactMatch OMIM:301060 azoospermia, obstructive, with nephrolithiasis semapv:UnspecifiedMatching MONDO:0025356 azoospermia, obstructive, with nephrolithiasis skos:exactMatch UMLS:C5542351 semapv:UnspecifiedMatching MONDO:0025369 Nairobi sheep disease skos:exactMatch SCTID:24069003 semapv:UnspecifiedMatching MONDO:0025369 Nairobi sheep disease skos:exactMatch mesh:D009265 semapv:UnspecifiedMatching MONDO:0025370 obsolete urogenital neoplasm skos:exactMatch mesh:D014565 semapv:UnspecifiedMatching MONDO:0025371 Parvoviridae infectious disease skos:exactMatch SCTID:83223005 semapv:UnspecifiedMatching MONDO:0025371 Parvoviridae infectious disease skos:exactMatch mesh:D010322 semapv:UnspecifiedMatching MONDO:0025376 African horse sickness skos:exactMatch mesh:D000355 semapv:UnspecifiedMatching MONDO:0025377 African swine fever skos:exactMatch mesh:D000357 semapv:UnspecifiedMatching MONDO:0025381 avian leukosis skos:exactMatch mesh:D001353 semapv:UnspecifiedMatching MONDO:0025382 sarcoma, avian skos:exactMatch mesh:D001357 semapv:UnspecifiedMatching MONDO:0025385 bluetongue skos:exactMatch mesh:D001819 semapv:UnspecifiedMatching MONDO:0025389 brucellosis, bovine skos:exactMatch mesh:D002007 semapv:UnspecifiedMatching MONDO:0025397 canine distemper skos:exactMatch mesh:D004216 semapv:UnspecifiedMatching MONDO:0025404 coronaviral enteritis of turkeys skos:exactMatch mesh:D004753 semapv:UnspecifiedMatching MONDO:0025412 feline panleukopenia skos:exactMatch mesh:D005254 semapv:UnspecifiedMatching MONDO:0025417 fowlpox skos:exactMatch mesh:D005586 semapv:UnspecifiedMatching MONDO:0025419 furunculosis, fish skos:exactMatch NCIT:C34629 Furunculosis semapv:UnspecifiedMatching MONDO:0025419 furunculosis, fish skos:exactMatch icd11.foundation:1194531705 Furunculosis semapv:UnspecifiedMatching MONDO:0025419 furunculosis, fish skos:exactMatch mesh:D005667 semapv:UnspecifiedMatching MONDO:0025420 gastroenteritis, transmissible, of swine skos:exactMatch mesh:D005761 semapv:UnspecifiedMatching MONDO:0025425 hepatitis, infectious canine skos:exactMatch mesh:D006522 semapv:UnspecifiedMatching MONDO:0025431 keratoconjunctivitis, infectious skos:exactMatch mesh:D007639 semapv:UnspecifiedMatching MONDO:0025445 Wieacker-Wolff syndrome (spectrum) skos:exactMatch OMIMPS:314580 Wieacker-Wolff syndrome semapv:UnspecifiedMatching MONDO:0025449 paratuberculosis skos:exactMatch mesh:D010283 semapv:UnspecifiedMatching MONDO:0025453 pneumonia, progressive interstitial, of sheep skos:exactMatch mesh:D011021 semapv:UnspecifiedMatching MONDO:0025457 pulmonary adenomatosis, ovine skos:exactMatch mesh:D011648 semapv:UnspecifiedMatching MONDO:0025459 rinderpest skos:exactMatch mesh:D012301 semapv:UnspecifiedMatching MONDO:0025478 venereal tumors, veterinary skos:exactMatch mesh:D014685 semapv:UnspecifiedMatching MONDO:0025481 obsolete zoonosis skos:exactMatch NCIT:C35803 Zoonotic Infection semapv:UnspecifiedMatching MONDO:0025481 obsolete zoonosis skos:exactMatch mesh:D015047 semapv:UnspecifiedMatching MONDO:0025483 mammary neoplasms, animal skos:exactMatch mesh:D015674 semapv:UnspecifiedMatching MONDO:0025484 simian acquired immunodeficiency syndrome skos:exactMatch mesh:D016097 semapv:UnspecifiedMatching MONDO:0025485 feline acquired immunodeficiency syndrome skos:exactMatch mesh:D016181 semapv:UnspecifiedMatching MONDO:0025487 murine acquired immunodeficiency syndrome skos:exactMatch mesh:D016183 semapv:UnspecifiedMatching MONDO:0025488 leukemia, feline skos:exactMatch mesh:D016582 semapv:UnspecifiedMatching MONDO:0025489 enzootic bovine leukosis skos:exactMatch mesh:D016583 semapv:UnspecifiedMatching MONDO:0025491 feline infectious peritonitis skos:exactMatch mesh:D016766 semapv:UnspecifiedMatching MONDO:0025494 porcine reproductive and respiratory syndrome skos:exactMatch mesh:D019318 semapv:UnspecifiedMatching MONDO:0025505 mink viral enteritis skos:exactMatch mesh:D053489 semapv:UnspecifiedMatching MONDO:0025506 porcine postweaning multisystemic wasting syndrome skos:exactMatch mesh:D053570 semapv:UnspecifiedMatching MONDO:0025510 pythiosis, non-human animal skos:broadMatch mesh:D058968 semapv:UnspecifiedMatching MONDO:0025511 obsolete inherited neuroendocrine tumor skos:exactMatch Orphanet:271847 Genetic neuroendocrine tumor semapv:UnspecifiedMatching MONDO:0025513 autoimmune urticaria skos:exactMatch MEDGEN:725554 semapv:UnspecifiedMatching MONDO:0025513 autoimmune urticaria skos:exactMatch SCTID:402397006 semapv:UnspecifiedMatching MONDO:0025513 autoimmune urticaria skos:exactMatch UMLS:C1304191 semapv:UnspecifiedMatching MONDO:0025514 livedoid vasculopathy skos:exactMatch DOID:0040099 livedoid vasculitis semapv:UnspecifiedMatching MONDO:0025514 livedoid vasculopathy skos:exactMatch ICD10CM:L95.0 Livedoid vasculitis semapv:UnspecifiedMatching MONDO:0025514 livedoid vasculopathy skos:exactMatch MEDGEN:575376 semapv:UnspecifiedMatching MONDO:0025514 livedoid vasculopathy skos:exactMatch Orphanet:542643 Livedoid vasculopathy semapv:UnspecifiedMatching MONDO:0025514 livedoid vasculopathy skos:exactMatch SCTID:238762002 semapv:UnspecifiedMatching MONDO:0025514 livedoid vasculopathy skos:exactMatch UMLS:C0343081 semapv:UnspecifiedMatching MONDO:0025514 livedoid vasculopathy skos:exactMatch icd11.foundation:1237292304 Livedoid vasculopathy semapv:UnspecifiedMatching MONDO:0025514 livedoid vasculopathy skos:exactMatch mesh:D000090122 semapv:UnspecifiedMatching MONDO:0025517 obsolete shrimp allergy skos:exactMatch DOID:0040001 shrimp allergy semapv:UnspecifiedMatching MONDO:0025518 obsolete aspirin allergy skos:exactMatch DOID:0040002 aspirin allergy semapv:UnspecifiedMatching MONDO:0025518 obsolete aspirin allergy skos:exactMatch SCTID:293586001 semapv:UnspecifiedMatching MONDO:0025556 isocyanate induced asthma skos:exactMatch DOID:0040041 isocyanates allergic asthma semapv:UnspecifiedMatching MONDO:0025556 isocyanate induced asthma skos:exactMatch MEDGEN:729881 semapv:UnspecifiedMatching MONDO:0025556 isocyanate induced asthma skos:exactMatch SCTID:404808000 semapv:UnspecifiedMatching MONDO:0025556 isocyanate induced asthma skos:exactMatch UMLS:C1321273 semapv:UnspecifiedMatching MONDO:0025598 pneumonia caused by chlamydia skos:exactMatch DOID:0040083 Chlamydia pneumonia semapv:UnspecifiedMatching MONDO:0025598 pneumonia caused by chlamydia skos:exactMatch ICD10CM:J16.0 Chlamydial pneumonia semapv:UnspecifiedMatching MONDO:0025598 pneumonia caused by chlamydia skos:exactMatch MEDGEN:452440 semapv:UnspecifiedMatching MONDO:0025598 pneumonia caused by chlamydia skos:exactMatch SCTID:233609002 semapv:UnspecifiedMatching MONDO:0025598 pneumonia caused by chlamydia skos:exactMatch UMLS:C0339959 semapv:UnspecifiedMatching MONDO:0025598 pneumonia caused by chlamydia skos:exactMatch mesh:D061387 semapv:UnspecifiedMatching MONDO:0025622 Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1 skos:exactMatch DOID:0061168 mitochondrial axonal Charcot-Marie-Tooth disease semapv:UnspecifiedMatching MONDO:0025622 Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1 skos:exactMatch MEDGEN:1731194 semapv:UnspecifiedMatching MONDO:0025622 Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1 skos:exactMatch OMIM:500013 charcot-marie-tooth disease, axonal, mitochondrial semapv:UnspecifiedMatching MONDO:0025622 Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1 skos:exactMatch UMLS:C5435765 semapv:UnspecifiedMatching MONDO:0025667 limbal stem cell deficiency skos:exactMatch MEDGEN:295775 semapv:UnspecifiedMatching MONDO:0025667 limbal stem cell deficiency skos:exactMatch Orphanet:171673 Limbal stem cell deficiency semapv:UnspecifiedMatching MONDO:0025667 limbal stem cell deficiency skos:exactMatch UMLS:C1561989 semapv:UnspecifiedMatching MONDO:0025690 microcephaly, epilepsy, and diabetes syndrome 2 skos:exactMatch MEDGEN:1782107 semapv:UnspecifiedMatching MONDO:0025690 microcephaly, epilepsy, and diabetes syndrome 2 skos:exactMatch OMIM:619278 microcephaly, epilepsy, and diabetes syndrome 2 semapv:UnspecifiedMatching MONDO:0025690 microcephaly, epilepsy, and diabetes syndrome 2 skos:exactMatch UMLS:C5543294 semapv:UnspecifiedMatching MONDO:0025691 dystonia 30 skos:exactMatch DOID:0060937 dystonia 30 semapv:UnspecifiedMatching MONDO:0025691 dystonia 30 skos:exactMatch MEDGEN:1785079 semapv:UnspecifiedMatching MONDO:0025691 dystonia 30 skos:exactMatch OMIM:619291 dystonia 30 semapv:UnspecifiedMatching MONDO:0025691 dystonia 30 skos:exactMatch UMLS:C5543312 semapv:UnspecifiedMatching MONDO:0025699 Coffin-Siris syndrome 12 skos:exactMatch DOID:0112370 Coffin-Siris syndrome 12 semapv:UnspecifiedMatching MONDO:0025699 Coffin-Siris syndrome 12 skos:exactMatch MEDGEN:1782096 semapv:UnspecifiedMatching MONDO:0025699 Coffin-Siris syndrome 12 skos:exactMatch OMIM:619325 coffin-siris syndrome 12 semapv:UnspecifiedMatching MONDO:0025699 Coffin-Siris syndrome 12 skos:exactMatch UMLS:C5444111 semapv:UnspecifiedMatching MONDO:0025701 leukodystrophy, hypomyelinating, 22 skos:exactMatch DOID:0070402 hypomyelinating leukodystrophy 22 semapv:UnspecifiedMatching MONDO:0025701 leukodystrophy, hypomyelinating, 22 skos:exactMatch MEDGEN:1787833 semapv:UnspecifiedMatching MONDO:0025701 leukodystrophy, hypomyelinating, 22 skos:exactMatch OMIM:619328 leukodystrophy, hypomyelinating, 22 semapv:UnspecifiedMatching MONDO:0025701 leukodystrophy, hypomyelinating, 22 skos:exactMatch UMLS:C5543406 semapv:UnspecifiedMatching MONDO:0025708 megacystis-microcolon-intestinal hypoperistalsis syndrome 2 skos:exactMatch MEDGEN:1788773 semapv:UnspecifiedMatching MONDO:0025708 megacystis-microcolon-intestinal hypoperistalsis syndrome 2 skos:exactMatch OMIM:619351 megacystis-microcolon-intestinal hypoperistalsis syndrome 2 semapv:UnspecifiedMatching MONDO:0025708 megacystis-microcolon-intestinal hypoperistalsis syndrome 2 skos:exactMatch UMLS:C5543476 semapv:UnspecifiedMatching MONDO:0025712 angioedema, hereditary, 4 skos:exactMatch MEDGEN:1787336 semapv:UnspecifiedMatching MONDO:0025712 angioedema, hereditary, 4 skos:exactMatch OMIM:619360 angioedema, hereditary, 4 semapv:UnspecifiedMatching MONDO:0025712 angioedema, hereditary, 4 skos:exactMatch UMLS:C5543503 semapv:UnspecifiedMatching MONDO:0025713 angioedema, hereditary, 7 skos:exactMatch MEDGEN:1784046 semapv:UnspecifiedMatching MONDO:0025713 angioedema, hereditary, 7 skos:exactMatch OMIM:619366 angioedema, hereditary, 7 semapv:UnspecifiedMatching MONDO:0025713 angioedema, hereditary, 7 skos:exactMatch UMLS:C5543526 semapv:UnspecifiedMatching MONDO:0025956 ovarian remnant syndrome skos:exactMatch MEDGEN:1856973 semapv:UnspecifiedMatching MONDO:0025956 ovarian remnant syndrome skos:exactMatch UMLS:C5886744 semapv:UnspecifiedMatching MONDO:0025956 ovarian remnant syndrome skos:exactMatch icd11.foundation:584962583 Ovarian remnant syndrome semapv:UnspecifiedMatching MONDO:0025986 megacystis-microcolon-intestinal hypoperistalsis syndrome skos:exactMatch MEDGEN:296125 semapv:UnspecifiedMatching MONDO:0025986 megacystis-microcolon-intestinal hypoperistalsis syndrome skos:exactMatch OMIMPS:249210 Megacystis-microcolon-intestinal hypoperistalsis syndrome semapv:UnspecifiedMatching MONDO:0025986 megacystis-microcolon-intestinal hypoperistalsis syndrome skos:exactMatch UMLS:C1608393 semapv:UnspecifiedMatching MONDO:0026045 prurigo nodularis skos:exactMatch ICD10CM:L28.1 Prurigo nodularis semapv:UnspecifiedMatching MONDO:0026045 prurigo nodularis skos:exactMatch MEDGEN:120471 semapv:UnspecifiedMatching MONDO:0026045 prurigo nodularis skos:exactMatch UMLS:C0263353 semapv:UnspecifiedMatching MONDO:0026141 obsolete genetic urticaria skos:exactMatch Orphanet:182734 Genetic urticaria semapv:UnspecifiedMatching MONDO:0026150 obsolete genetic erythrokeratoderma skos:exactMatch Orphanet:183438 Genetic erythrokeratoderma semapv:UnspecifiedMatching MONDO:0026151 obsolete genetic acrokeratoderma skos:exactMatch Orphanet:183441 Genetic acrokeratoderma semapv:UnspecifiedMatching MONDO:0026152 obsolete genetic porokeratosis skos:exactMatch Orphanet:183444 Genetic porokeratosis semapv:UnspecifiedMatching MONDO:0026157 obsolete genetic pigmentation anomaly of the skin skos:exactMatch Orphanet:183463 Genetic pigmentation anomaly of the skin semapv:UnspecifiedMatching MONDO:0026160 obsolete genetic dermis disorder skos:exactMatch Orphanet:183472 Genetic dermis disorder semapv:UnspecifiedMatching MONDO:0026166 obsolete genetic immune deficiency with skin involvement skos:exactMatch Orphanet:183494 Genetic immune deficiency with skin involvement semapv:UnspecifiedMatching MONDO:0026167 obsolete genetic neuromuscular disease skos:exactMatch Orphanet:183497 Genetic neuromuscular disease semapv:UnspecifiedMatching MONDO:0026170 obsolete genetic central nervous system malformation skos:exactMatch Orphanet:183506 Genetic central nervous system malformation semapv:UnspecifiedMatching MONDO:0026173 obsolete rare genetic medullar disease skos:exactMatch Orphanet:183515 Rare genetic medullar disease semapv:UnspecifiedMatching MONDO:0026180 obsolete genetic congenital limb malformation skos:exactMatch Orphanet:183536 Genetic congenital limb malformation semapv:UnspecifiedMatching MONDO:0026181 obsolete genetic renal or urinary tract malformation skos:exactMatch Orphanet:183539 Genetic renal or urinary tract malformation semapv:UnspecifiedMatching MONDO:0026182 obsolete genetic cranial malformation skos:exactMatch Orphanet:183542 Genetic cranial malformation semapv:UnspecifiedMatching MONDO:0026183 obsolete genetic digestive tract malformation skos:exactMatch Orphanet:183545 Genetic digestive tract malformation semapv:UnspecifiedMatching MONDO:0026184 obsolete genetic visceral malformation of the liver, biliary tract, pancreas or spleen skos:exactMatch Orphanet:183548 Genetic visceral malformation of the liver, biliary tract, pancreas or spleen semapv:UnspecifiedMatching MONDO:0026185 obsolete genetic respiratory or mediastinal malformation skos:exactMatch Orphanet:183554 Genetic respiratory or mediastinal malformation semapv:UnspecifiedMatching MONDO:0026186 obsolete genetic developmental defect of the eye skos:exactMatch Orphanet:183557 Genetic developmental defect of the eye semapv:UnspecifiedMatching MONDO:0026187 obsolete genetic malformation syndrome with short stature skos:exactMatch Orphanet:183570 Genetic malformation syndrome with short stature semapv:UnspecifiedMatching MONDO:0026188 obsolete genetic overgrowth/obesity syndrome skos:exactMatch Orphanet:183573 Genetic overgrowth/obesity syndrome semapv:UnspecifiedMatching MONDO:0026189 obsolete genetic branchial arch or oral-acral syndrome skos:exactMatch Orphanet:183576 Genetic branchial arch or oral-acral syndrome semapv:UnspecifiedMatching MONDO:0026190 obsolete genetic malformation syndrome with odontal and/or periodontal component skos:exactMatch Orphanet:183580 Genetic malformation syndrome with odontal and/or periodontal component semapv:UnspecifiedMatching MONDO:0026192 obsolete genetic glomerular disease skos:exactMatch Orphanet:183586 Genetic glomerular disease semapv:UnspecifiedMatching MONDO:0026193 obsolete genetic thrombotic microangiopathy skos:exactMatch Orphanet:183589 Genetic thrombotic microangiopathy semapv:UnspecifiedMatching MONDO:0026203 obsolete genetic respiratory malformation skos:exactMatch Orphanet:183622 Genetic respiratory malformation semapv:UnspecifiedMatching MONDO:0026209 obsolete genetic polyendocrinopathy skos:exactMatch Orphanet:183643 Genetic polyendocrinopathy semapv:UnspecifiedMatching MONDO:0026404 X inactivation, familial skewed, 1 skos:exactMatch MEDGEN:338394 semapv:UnspecifiedMatching MONDO:0026404 X inactivation, familial skewed, 1 skos:exactMatch OMIM:300087 x inactivation, familial skewed, 1 semapv:UnspecifiedMatching MONDO:0026404 X inactivation, familial skewed, 1 skos:exactMatch UMLS:C1848138 semapv:UnspecifiedMatching MONDO:0026404 X inactivation, familial skewed, 1 skos:exactMatch mesh:C564716 semapv:UnspecifiedMatching MONDO:0026419 obsolete isolated corpus callosum agenesis skos:broadMatch ICD10CM:Q04.0 Congenital malformations of corpus callosum semapv:UnspecifiedMatching MONDO:0026426 X inactivation, familial skewed, 2 skos:exactMatch MEDGEN:335376 semapv:UnspecifiedMatching MONDO:0026426 X inactivation, familial skewed, 2 skos:exactMatch OMIM:300179 x inactivation, familial skewed, 2 semapv:UnspecifiedMatching MONDO:0026426 X inactivation, familial skewed, 2 skos:exactMatch UMLS:C1846257 semapv:UnspecifiedMatching MONDO:0026426 X inactivation, familial skewed, 2 skos:exactMatch mesh:C564572 semapv:UnspecifiedMatching MONDO:0026720 mitochondrial complex I deficiency, nuclear type 12 skos:exactMatch DOID:0112099 nuclear type mitochondrial complex I deficiency 12 semapv:UnspecifiedMatching MONDO:0026720 mitochondrial complex I deficiency, nuclear type 12 skos:exactMatch MEDGEN:1648278 semapv:UnspecifiedMatching MONDO:0026720 mitochondrial complex I deficiency, nuclear type 12 skos:exactMatch OMIM:301020 mitochondrial complex 1 deficiency, nuclear type 12 semapv:UnspecifiedMatching MONDO:0026720 mitochondrial complex I deficiency, nuclear type 12 skos:exactMatch UMLS:C4746984 semapv:UnspecifiedMatching MONDO:0026721 mitochondrial complex I deficiency, nuclear type 30 skos:exactMatch DOID:0112098 nuclear type mitochondrial complex I deficiency 30 semapv:UnspecifiedMatching MONDO:0026721 mitochondrial complex I deficiency, nuclear type 30 skos:exactMatch MEDGEN:1648313 semapv:UnspecifiedMatching MONDO:0026721 mitochondrial complex I deficiency, nuclear type 30 skos:exactMatch OMIM:301021 mitochondrial complex 1 deficiency, nuclear type 30 semapv:UnspecifiedMatching MONDO:0026721 mitochondrial complex I deficiency, nuclear type 30 skos:exactMatch UMLS:C4746985 semapv:UnspecifiedMatching MONDO:0026722 Mullegama-Klein-Martinez syndrome skos:exactMatch DOID:0111845 Mullegama-Klein-Martinez syndrome semapv:UnspecifiedMatching MONDO:0026722 Mullegama-Klein-Martinez syndrome skos:exactMatch MEDGEN:1683985 semapv:UnspecifiedMatching MONDO:0026722 Mullegama-Klein-Martinez syndrome skos:exactMatch OMIM:301022 mullegama-klein-martinez syndrome semapv:UnspecifiedMatching MONDO:0026722 Mullegama-Klein-Martinez syndrome skos:exactMatch UMLS:C5193008 semapv:UnspecifiedMatching MONDO:0026723 intellectual developmental disorder, X-linked 108 skos:exactMatch DOID:0111844 X-linked intellectual developmental disorder 108 semapv:UnspecifiedMatching MONDO:0026723 intellectual developmental disorder, X-linked 108 skos:exactMatch MEDGEN:1680544 semapv:UnspecifiedMatching MONDO:0026723 intellectual developmental disorder, X-linked 108 skos:exactMatch OMIM:301024 intellectual developmental disorder, X-linked 108 semapv:UnspecifiedMatching MONDO:0026723 intellectual developmental disorder, X-linked 108 skos:exactMatch UMLS:C5193009 semapv:UnspecifiedMatching MONDO:0026724 Paganini-Miozzo syndrome skos:exactMatch DOID:0111843 Paganini-Miozzo syndrome semapv:UnspecifiedMatching MONDO:0026724 Paganini-Miozzo syndrome skos:exactMatch MEDGEN:1683361 semapv:UnspecifiedMatching MONDO:0026724 Paganini-Miozzo syndrome skos:exactMatch OMIM:301025 paganini-miozzo syndrome semapv:UnspecifiedMatching MONDO:0026724 Paganini-Miozzo syndrome skos:exactMatch UMLS:C5193010 semapv:UnspecifiedMatching MONDO:0026726 nephrotic syndrome, type 20 skos:exactMatch DOID:0070357 nephrotic syndrome type 20 semapv:UnspecifiedMatching MONDO:0026726 nephrotic syndrome, type 20 skos:exactMatch MEDGEN:1678854 semapv:UnspecifiedMatching MONDO:0026726 nephrotic syndrome, type 20 skos:exactMatch OMIM:301028 nephrotic syndrome, type 20 semapv:UnspecifiedMatching MONDO:0026726 nephrotic syndrome, type 20 skos:exactMatch UMLS:C5193011 semapv:UnspecifiedMatching MONDO:0026727 Shukla-Vernon syndrome skos:exactMatch DOID:0111841 Shukla-Vernon syndrome semapv:UnspecifiedMatching MONDO:0026727 Shukla-Vernon syndrome skos:exactMatch MEDGEN:1674076 semapv:UnspecifiedMatching MONDO:0026727 Shukla-Vernon syndrome skos:exactMatch OMIM:301029 shukla-vernon syndrome semapv:UnspecifiedMatching MONDO:0026727 Shukla-Vernon syndrome skos:exactMatch UMLS:C5193146 semapv:UnspecifiedMatching MONDO:0026729 congenital disorder of glycosylation, type ICC skos:exactMatch DOID:0111839 congenital disorder of glycosylation Icc semapv:UnspecifiedMatching MONDO:0026729 congenital disorder of glycosylation, type ICC skos:exactMatch MEDGEN:1684742 semapv:UnspecifiedMatching MONDO:0026729 congenital disorder of glycosylation, type ICC skos:exactMatch OMIM:301031 congenital disorder of glycosylation, type icc semapv:UnspecifiedMatching MONDO:0026729 congenital disorder of glycosylation, type ICC skos:exactMatch UMLS:C5231393 semapv:UnspecifiedMatching MONDO:0026730 Basilicata-Akhtar syndrome skos:exactMatch DOID:0111838 Basilicata-Akhtar syndrome semapv:UnspecifiedMatching MONDO:0026730 Basilicata-Akhtar syndrome skos:exactMatch MEDGEN:1684820 semapv:UnspecifiedMatching MONDO:0026730 Basilicata-Akhtar syndrome skos:exactMatch OMIM:301032 basilicata-akhtar syndrome semapv:UnspecifiedMatching MONDO:0026730 Basilicata-Akhtar syndrome skos:exactMatch UMLS:C5231394 semapv:UnspecifiedMatching MONDO:0026731 hypothyroidism, congenital, nongoitrous, 8 skos:exactMatch DOID:0111837 congenital nongoitrous hypothyroidism 8 semapv:UnspecifiedMatching MONDO:0026731 hypothyroidism, congenital, nongoitrous, 8 skos:exactMatch MEDGEN:1684717 semapv:UnspecifiedMatching MONDO:0026731 hypothyroidism, congenital, nongoitrous, 8 skos:exactMatch OMIM:301033 hypothyroidism, congenital, nongoitrous, 8 semapv:UnspecifiedMatching MONDO:0026731 hypothyroidism, congenital, nongoitrous, 8 skos:exactMatch UMLS:C5231395 semapv:UnspecifiedMatching MONDO:0026732 hypothyroidism, congenital, nongoitrous, 9 skos:exactMatch DOID:0111835 congenital nongoitrous hypothyroidism 9 semapv:UnspecifiedMatching MONDO:0026732 hypothyroidism, congenital, nongoitrous, 9 skos:exactMatch MEDGEN:1684807 semapv:UnspecifiedMatching MONDO:0026732 hypothyroidism, congenital, nongoitrous, 9 skos:exactMatch OMIM:301035 hypothyroidism, congenital, nongoitrous, 9 semapv:UnspecifiedMatching MONDO:0026732 hypothyroidism, congenital, nongoitrous, 9 skos:exactMatch UMLS:C5231396 semapv:UnspecifiedMatching MONDO:0026733 intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type skos:exactMatch MEDGEN:1716269 semapv:UnspecifiedMatching MONDO:0026733 intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type skos:exactMatch OMIM:301039 intellectual developmental disorder, x-linked, syndromic, hackmann-di donato type semapv:UnspecifiedMatching MONDO:0026733 intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type skos:exactMatch Orphanet:700325 NKAP-related intellectual disability-facial dysmorphism-marfanoid habitus-scoliosis syndrome semapv:UnspecifiedMatching MONDO:0026733 intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type skos:exactMatch UMLS:C5393302 semapv:UnspecifiedMatching MONDO:0026762 Wieacker-Wolff syndrome, female-restricted skos:exactMatch DOID:0061015 female-restricted Wieacker-Wolff syndrome semapv:UnspecifiedMatching MONDO:0026762 Wieacker-Wolff syndrome, female-restricted skos:exactMatch MEDGEN:1715791 semapv:UnspecifiedMatching MONDO:0026762 Wieacker-Wolff syndrome, female-restricted skos:exactMatch OMIM:301041 wieacker-wolff syndrome, female-restricted semapv:UnspecifiedMatching MONDO:0026762 Wieacker-Wolff syndrome, female-restricted skos:exactMatch UMLS:C5393303 semapv:UnspecifiedMatching MONDO:0026763 holoprosencephaly 13, X-linked skos:exactMatch DOID:0060954 Holoprosencephaly 13, X-linked semapv:UnspecifiedMatching MONDO:0026763 holoprosencephaly 13, X-linked skos:exactMatch MEDGEN:1714826 semapv:UnspecifiedMatching MONDO:0026763 holoprosencephaly 13, X-linked skos:exactMatch OMIM:301043 holoprosencephaly 13, X-linked semapv:UnspecifiedMatching MONDO:0026763 holoprosencephaly 13, X-linked skos:exactMatch UMLS:C5393308 semapv:UnspecifiedMatching MONDO:0026765 congenital disorder of glycosylation, type IIr skos:exactMatch DOID:0051048 congenital disorder of glycosylation type IIr semapv:UnspecifiedMatching MONDO:0026765 congenital disorder of glycosylation, type IIr skos:exactMatch MEDGEN:1717186 semapv:UnspecifiedMatching MONDO:0026765 congenital disorder of glycosylation, type IIr skos:exactMatch OMIM:301045 congenital disorder of glycosylation, type iir semapv:UnspecifiedMatching MONDO:0026765 congenital disorder of glycosylation, type IIr skos:exactMatch UMLS:C5393313 semapv:UnspecifiedMatching MONDO:0026767 immunodeficiency 74, COVID-19-related, X-linked skos:exactMatch DOID:0112063 X-Linked immunodeficiency 74 semapv:UnspecifiedMatching MONDO:0026767 immunodeficiency 74, COVID-19-related, X-linked skos:exactMatch MEDGEN:1768360 semapv:UnspecifiedMatching MONDO:0026767 immunodeficiency 74, COVID-19-related, X-linked skos:exactMatch OMIM:301051 immunodeficiency 74, covid19-related, X-linked semapv:UnspecifiedMatching MONDO:0026767 immunodeficiency 74, COVID-19-related, X-linked skos:exactMatch UMLS:C5435745 semapv:UnspecifiedMatching MONDO:0026768 obsolete warfarin sensitivity, X-linked skos:exactMatch DOID:0080839 X-linked warfarin sensitivity semapv:UnspecifiedMatching MONDO:0026768 obsolete warfarin sensitivity, X-linked skos:exactMatch OMIM:301052 warfarin sensitivity, X-linked semapv:UnspecifiedMatching MONDO:0026771 developmental and epileptic encephalopathy, 85, with or without midline brain defects skos:exactMatch DOID:0070380 developmental and epileptic encephalopathy 85 semapv:UnspecifiedMatching MONDO:0026771 developmental and epileptic encephalopathy, 85, with or without midline brain defects skos:exactMatch MEDGEN:1708832 semapv:UnspecifiedMatching MONDO:0026771 developmental and epileptic encephalopathy, 85, with or without midline brain defects skos:exactMatch OMIM:301044 developmental and epileptic encephalopathy 85 with or without midline brain defects semapv:UnspecifiedMatching MONDO:0026771 developmental and epileptic encephalopathy, 85, with or without midline brain defects skos:exactMatch UMLS:C5393312 semapv:UnspecifiedMatching MONDO:0026777 VEXAS syndrome skos:exactMatch DOID:0080828 VEXAS syndrome semapv:UnspecifiedMatching MONDO:0026777 VEXAS syndrome skos:exactMatch MEDGEN:1765785 semapv:UnspecifiedMatching MONDO:0026777 VEXAS syndrome skos:exactMatch NCIT:C181924 VEXAS Syndrome semapv:UnspecifiedMatching MONDO:0026777 VEXAS syndrome skos:exactMatch OMIM:301054 VEXAS syndrome semapv:UnspecifiedMatching MONDO:0026777 VEXAS syndrome skos:exactMatch Orphanet:596753 VEXAS syndrome semapv:UnspecifiedMatching MONDO:0026777 VEXAS syndrome skos:exactMatch UMLS:C5435753 semapv:UnspecifiedMatching MONDO:0026856 obsolete homosexuality 1 skos:exactMatch OMIM:306995 homosexuality 1 semapv:UnspecifiedMatching MONDO:0026989 obsolete syndrome associated with hypertrophic cardiomyopathy skos:exactMatch Orphanet:217595 Syndrome associated with hypertrophic cardiomyopathy semapv:UnspecifiedMatching MONDO:0027026 Buschke Lowenstein tumor skos:exactMatch MEDGEN:473018 semapv:UnspecifiedMatching MONDO:0027026 Buschke Lowenstein tumor skos:exactMatch NCIT:C6371 Giant Condyloma Acuminatum semapv:UnspecifiedMatching MONDO:0027026 Buschke Lowenstein tumor skos:exactMatch SCTID:402910001 semapv:UnspecifiedMatching MONDO:0027026 Buschke Lowenstein tumor skos:exactMatch UMLS:C0276264 semapv:UnspecifiedMatching MONDO:0027026 Buschke Lowenstein tumor skos:exactMatch mesh:D062688 semapv:UnspecifiedMatching MONDO:0027029 HHV-6 encephalitis skos:exactMatch MEDGEN:363034 semapv:UnspecifiedMatching MONDO:0027029 HHV-6 encephalitis skos:exactMatch UMLS:C1955629 semapv:UnspecifiedMatching MONDO:0027048 deafness, Y-linked 2 skos:exactMatch DOID:0111758 Y-linked deafness 2 semapv:UnspecifiedMatching MONDO:0027048 deafness, Y-linked 2 skos:exactMatch MEDGEN:1677048 semapv:UnspecifiedMatching MONDO:0027048 deafness, Y-linked 2 skos:exactMatch OMIM:400047 deafness, Y-linked 2 semapv:UnspecifiedMatching MONDO:0027048 deafness, Y-linked 2 skos:exactMatch UMLS:C5193013 semapv:UnspecifiedMatching MONDO:0027068 mitochondrial complex I deficiency, mitochondrial type 1 skos:exactMatch DOID:0112101 mitochondrial type mitochondrial complex I deficiency 1 semapv:UnspecifiedMatching MONDO:0027068 mitochondrial complex I deficiency, mitochondrial type 1 skos:exactMatch MEDGEN:1648371 semapv:UnspecifiedMatching MONDO:0027068 mitochondrial complex I deficiency, mitochondrial type 1 skos:exactMatch OMIM:500014 mitochondrial complex 1 deficiency, mitochondrial type 1 semapv:UnspecifiedMatching MONDO:0027068 mitochondrial complex I deficiency, mitochondrial type 1 skos:exactMatch UMLS:C4746992 semapv:UnspecifiedMatching MONDO:0027069 mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1 skos:exactMatch DOID:0111748 mitochondrial complex V (ATP synthase) deficiency mitochondrial type 1 semapv:UnspecifiedMatching MONDO:0027069 mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1 skos:exactMatch MEDGEN:477315 semapv:UnspecifiedMatching MONDO:0027069 mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1 skos:exactMatch OMIM:500015 mitochondrial complex 5 (atp synthase) deficiency, mitochondrial type 1 semapv:UnspecifiedMatching MONDO:0027069 mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1 skos:exactMatch UMLS:C3275684 semapv:UnspecifiedMatching MONDO:0027091 xanthogranulomatous sialadenitis skos:exactMatch MEDGEN:444028 semapv:UnspecifiedMatching MONDO:0027091 xanthogranulomatous sialadenitis skos:exactMatch UMLS:C2931315 semapv:UnspecifiedMatching MONDO:0027091 xanthogranulomatous sialadenitis skos:exactMatch mesh:C536763 semapv:UnspecifiedMatching MONDO:0027353 autosomal recessive dyskeratosis congenita 4 skos:exactMatch DOID:0070021 autosomal recessive dyskeratosis congenita 4 semapv:UnspecifiedMatching MONDO:0027353 autosomal recessive dyskeratosis congenita 4 skos:exactMatch MEDGEN:462794 semapv:UnspecifiedMatching MONDO:0027353 autosomal recessive dyskeratosis congenita 4 skos:exactMatch UMLS:C3151444 semapv:UnspecifiedMatching MONDO:0027407 Kleefstra syndrome 1 skos:exactMatch DOID:0060352 Kleefstra syndrome 1 semapv:UnspecifiedMatching MONDO:0027407 Kleefstra syndrome 1 skos:exactMatch MEDGEN:208639 semapv:UnspecifiedMatching MONDO:0027407 Kleefstra syndrome 1 skos:exactMatch NCIT:C129976 Kleefstra Syndrome semapv:UnspecifiedMatching MONDO:0027407 Kleefstra syndrome 1 skos:exactMatch OMIM:610253 kleefstra syndrome 1 semapv:UnspecifiedMatching MONDO:0027407 Kleefstra syndrome 1 skos:exactMatch SCTID:724207001 semapv:UnspecifiedMatching MONDO:0027407 Kleefstra syndrome 1 skos:exactMatch UMLS:C0795833 semapv:UnspecifiedMatching MONDO:0027407 Kleefstra syndrome 1 skos:exactMatch mesh:C563043 semapv:UnspecifiedMatching MONDO:0027416 obsolete retinal cone dystrophy 2 skos:exactMatch OMIM:601251 semapv:UnspecifiedMatching MONDO:0027451 autosomal recessive cutis laxa type 2D skos:exactMatch DOID:0070129 autosomal recessive cutis laxa type IID semapv:UnspecifiedMatching MONDO:0027451 autosomal recessive cutis laxa type 2D skos:exactMatch MEDGEN:1376619 semapv:UnspecifiedMatching MONDO:0027451 autosomal recessive cutis laxa type 2D skos:exactMatch OMIM:617403 cutis laxa, autosomal recessive, type 2d semapv:UnspecifiedMatching MONDO:0027451 autosomal recessive cutis laxa type 2D skos:exactMatch UMLS:C4479409 semapv:UnspecifiedMatching MONDO:0027462 autosomal recessive cutis laxa type 2C skos:exactMatch DOID:0070140 autosomal recessive cutis laxa type IIC semapv:UnspecifiedMatching MONDO:0027462 autosomal recessive cutis laxa type 2C skos:exactMatch MEDGEN:1385755 semapv:UnspecifiedMatching MONDO:0027462 autosomal recessive cutis laxa type 2C skos:exactMatch OMIM:617402 cutis laxa, autosomal recessive, type 2c semapv:UnspecifiedMatching MONDO:0027462 autosomal recessive cutis laxa type 2C skos:exactMatch UMLS:C4479387 semapv:UnspecifiedMatching MONDO:0027652 5-fluorouracil toxicity skos:exactMatch Orphanet:240839 semapv:UnspecifiedMatching MONDO:0027653 abacavir toxicity skos:exactMatch Orphanet:240841 semapv:UnspecifiedMatching MONDO:0027655 allopurinol toxicity skos:exactMatch Orphanet:240845 semapv:UnspecifiedMatching MONDO:0027664 cisplatin toxicity skos:exactMatch Orphanet:240863 semapv:UnspecifiedMatching MONDO:0027666 codeine toxicity skos:exactMatch Orphanet:240867 semapv:UnspecifiedMatching MONDO:0027667 efavirenz toxicity skos:exactMatch Orphanet:240869 semapv:UnspecifiedMatching MONDO:0027668 flucloxacilline toxicity skos:exactMatch Orphanet:240871 semapv:UnspecifiedMatching MONDO:0027675 irinotecan toxicity skos:exactMatch Orphanet:240885 semapv:UnspecifiedMatching MONDO:0027676 congenital anomalies of kidney and urinary tract 2 skos:exactMatch DOID:0080207 CAKUT2 semapv:UnspecifiedMatching MONDO:0027676 congenital anomalies of kidney and urinary tract 2 skos:exactMatch MEDGEN:1804316 semapv:UnspecifiedMatching MONDO:0027676 congenital anomalies of kidney and urinary tract 2 skos:exactMatch OMIM:143400 congenital anomalies of kidney and urinary tract 2 semapv:UnspecifiedMatching MONDO:0027676 congenital anomalies of kidney and urinary tract 2 skos:exactMatch UMLS:C5574705 semapv:UnspecifiedMatching MONDO:0027677 isoniazid toxicity skos:exactMatch Orphanet:240887 semapv:UnspecifiedMatching MONDO:0027687 raltegravir toxicity skos:exactMatch Orphanet:240905 semapv:UnspecifiedMatching MONDO:0027694 amyotrophic lateral sclerosis type 23 skos:exactMatch DOID:0080225 amyotrophic lateral sclerosis type 23 semapv:UnspecifiedMatching MONDO:0027694 amyotrophic lateral sclerosis type 23 skos:exactMatch MEDGEN:1645924 semapv:UnspecifiedMatching MONDO:0027694 amyotrophic lateral sclerosis type 23 skos:exactMatch OMIM:617839 amyotrophic lateral sclerosis 23 semapv:UnspecifiedMatching MONDO:0027694 amyotrophic lateral sclerosis type 23 skos:exactMatch UMLS:C4693381 semapv:UnspecifiedMatching MONDO:0027696 voriconazole toxicity skos:exactMatch Orphanet:240921 semapv:UnspecifiedMatching MONDO:0027749 serpinopathy skos:exactMatch MEDGEN:1842372 semapv:UnspecifiedMatching MONDO:0027749 serpinopathy skos:exactMatch Orphanet:250805 Serpinopathy semapv:UnspecifiedMatching MONDO:0027749 serpinopathy skos:exactMatch UMLS:C5680704 semapv:UnspecifiedMatching MONDO:0027750 obsolete serpinopathy with toxic serpin polymerization skos:exactMatch Orphanet:250808 Serpinopathy with toxic serpin polymerization semapv:UnspecifiedMatching MONDO:0027751 obsolete serpinopathy with loss of serpin function skos:exactMatch Orphanet:250811 Serpinopathy with loss of serpin function semapv:UnspecifiedMatching MONDO:0027766 generalized lipodystrophy skos:exactMatch DOID:0080298 complete generalized lipodystrophy semapv:UnspecifiedMatching MONDO:0027766 generalized lipodystrophy skos:exactMatch MEDGEN:1369615 semapv:UnspecifiedMatching MONDO:0027766 generalized lipodystrophy skos:exactMatch NCIT:C131815 Generalized Lipodystrophy semapv:UnspecifiedMatching MONDO:0027766 generalized lipodystrophy skos:exactMatch UMLS:C4317112 semapv:UnspecifiedMatching MONDO:0027767 partial lipodystrophy skos:exactMatch DOID:0080299 partial lipodystrophy semapv:UnspecifiedMatching MONDO:0027767 partial lipodystrophy skos:exactMatch MEDGEN:1386287 semapv:UnspecifiedMatching MONDO:0027767 partial lipodystrophy skos:exactMatch NCIT:C131296 Partial Lipodystrophy semapv:UnspecifiedMatching MONDO:0027767 partial lipodystrophy skos:exactMatch UMLS:C4316789 semapv:UnspecifiedMatching MONDO:0027772 lung colloid adenocarcinoma skos:exactMatch DOID:0080303 mucinous lung adenocarcinoma semapv:UnspecifiedMatching MONDO:0027772 lung colloid adenocarcinoma skos:exactMatch DOID:0080304 lung mucinous cystadenocarcinoma semapv:UnspecifiedMatching MONDO:0027772 lung colloid adenocarcinoma skos:exactMatch MEDGEN:313370 semapv:UnspecifiedMatching MONDO:0027772 lung colloid adenocarcinoma skos:exactMatch NCIT:C45512 Lung Colloid Adenocarcinoma semapv:UnspecifiedMatching MONDO:0027772 lung colloid adenocarcinoma skos:exactMatch UMLS:C1708776 semapv:UnspecifiedMatching MONDO:0027929 obsolete genetic polycythemia skos:exactMatch Orphanet:250165 Genetic polycythemia semapv:UnspecifiedMatching MONDO:0028226 autosomal recessive severe congenital neutropenia skos:exactMatch MEDGEN:1781858 semapv:UnspecifiedMatching MONDO:0028226 autosomal recessive severe congenital neutropenia skos:exactMatch NCIT:C176624 Autosomal Recessive Severe Congenital Neutropenia semapv:UnspecifiedMatching MONDO:0028226 autosomal recessive severe congenital neutropenia skos:exactMatch Orphanet:439849 Autosomal recessive severe congenital neutropenia semapv:UnspecifiedMatching MONDO:0028226 autosomal recessive severe congenital neutropenia skos:exactMatch UMLS:C5447331 semapv:UnspecifiedMatching MONDO:0028569 obsolete genetic interstitial lung disease skos:exactMatch Orphanet:264992 Genetic interstitial lung disease semapv:UnspecifiedMatching MONDO:0028618 obsolete gastroenteric neuroendocrine neoplasm skos:exactMatch Orphanet:481508 Gastroenteric neuroendocrine neoplasm semapv:UnspecifiedMatching MONDO:0028737 obsolete biliary atresia disorder skos:exactMatch Orphanet:498345 Biliary atresia and associated disorders semapv:UnspecifiedMatching MONDO:0028795 obsolete rare genetic systemic or rheumatologic disease skos:exactMatch Orphanet:271870 Rare genetic systemic or rheumatologic disease semapv:UnspecifiedMatching MONDO:0028868 obsolete genetic frontotemporal degeneration with dementia skos:exactMatch Orphanet:276061 Genetic frontotemporal degeneration with dementia semapv:UnspecifiedMatching MONDO:0029000 poisoning skos:exactMatch EFO:0008546 semapv:UnspecifiedMatching MONDO:0029000 poisoning skos:exactMatch SCTID:75478009 semapv:UnspecifiedMatching MONDO:0029000 poisoning skos:exactMatch mesh:D011041 semapv:UnspecifiedMatching MONDO:0029001 obsolete chemically-induced disorder skos:exactMatch mesh:D064419 semapv:UnspecifiedMatching MONDO:0029014 obsolete rare systemic or rheumatological disease of childhood skos:exactMatch Orphanet:280342 Rare systemic or rheumatological disease of childhood semapv:UnspecifiedMatching MONDO:0029042 obsolete ureteropelvic junction obstruction skos:exactMatch DOID:0111145 ureteropelvic junction obstruction semapv:UnspecifiedMatching MONDO:0029051 obsolete autosomal recessive nail dysplasia skos:broadMatch ICD10CM:Q84.6 Other congenital malformations of nails semapv:UnspecifiedMatching MONDO:0029051 obsolete autosomal recessive nail dysplasia skos:exactMatch Orphanet:280654 Autosomal recessive nail dysplasia semapv:UnspecifiedMatching MONDO:0029102 obsolete autosomal ichthyosis syndrome with other associated signs skos:exactMatch Orphanet:281244 Autosomal ichthyosis syndrome with other associated signs semapv:UnspecifiedMatching MONDO:0029130 polydactyly, postaxial, type A8 skos:exactMatch MEDGEN:1648405 semapv:UnspecifiedMatching MONDO:0029130 polydactyly, postaxial, type A8 skos:exactMatch OMIM:618123 polydactyly, postaxial, type a8 semapv:UnspecifiedMatching MONDO:0029130 polydactyly, postaxial, type A8 skos:exactMatch UMLS:C4748277 semapv:UnspecifiedMatching MONDO:0029131 peripheral neuropathy, autosomal recessive, with or without impaired intellectual development skos:exactMatch MEDGEN:1648480 semapv:UnspecifiedMatching MONDO:0029131 peripheral neuropathy, autosomal recessive, with or without impaired intellectual development skos:exactMatch OMIM:618124 peripheral neuropathy, autosomal recessive, with or without impaired intellectual development semapv:UnspecifiedMatching MONDO:0029131 peripheral neuropathy, autosomal recessive, with or without impaired intellectual development skos:exactMatch UMLS:C4748283 semapv:UnspecifiedMatching MONDO:0029132 Liddle syndrome 3 skos:exactMatch MEDGEN:1648443 semapv:UnspecifiedMatching MONDO:0029132 Liddle syndrome 3 skos:exactMatch OMIM:618126 liddle syndrome 3 semapv:UnspecifiedMatching MONDO:0029132 Liddle syndrome 3 skos:exactMatch UMLS:C4748292 semapv:UnspecifiedMatching MONDO:0029133 muscular dystrophy, limb-girdle, autosomal dominant 4 skos:exactMatch MEDGEN:1648316 semapv:UnspecifiedMatching MONDO:0029133 muscular dystrophy, limb-girdle, autosomal dominant 4 skos:exactMatch OMIM:618129 muscular dystrophy, limb-girdle, autosomal dominant 4 semapv:UnspecifiedMatching MONDO:0029133 muscular dystrophy, limb-girdle, autosomal dominant 4 skos:exactMatch Orphanet:565909 Calpain-3-related limb-girdle muscular dystrophy D4 semapv:UnspecifiedMatching MONDO:0029133 muscular dystrophy, limb-girdle, autosomal dominant 4 skos:exactMatch UMLS:C4748295 semapv:UnspecifiedMatching MONDO:0029134 severe combined immunodeficiency due to CARMIL2 deficiency skos:exactMatch DOID:0111984 immunodeficiency 58 semapv:UnspecifiedMatching MONDO:0029134 severe combined immunodeficiency due to CARMIL2 deficiency skos:exactMatch MEDGEN:1648422 semapv:UnspecifiedMatching MONDO:0029134 severe combined immunodeficiency due to CARMIL2 deficiency skos:exactMatch OMIM:618131 immunodeficiency 58 semapv:UnspecifiedMatching MONDO:0029134 severe combined immunodeficiency due to CARMIL2 deficiency skos:exactMatch Orphanet:542301 Combined immunodeficiency due to CARMIL2 deficiency semapv:UnspecifiedMatching MONDO:0029134 severe combined immunodeficiency due to CARMIL2 deficiency skos:exactMatch UMLS:C4748304 semapv:UnspecifiedMatching MONDO:0029135 muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 skos:exactMatch DOID:0112382 muscular dystrophy-dystroglycanopathy type C8 semapv:UnspecifiedMatching MONDO:0029135 muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 skos:exactMatch MEDGEN:1648468 semapv:UnspecifiedMatching MONDO:0029135 muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 skos:exactMatch OMIM:618135 muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 8 semapv:UnspecifiedMatching MONDO:0029135 muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 skos:exactMatch UMLS:C4748320 semapv:UnspecifiedMatching MONDO:0029136 muscular dystrophy, limb-girdle, autosomal recessive 23 skos:exactMatch DOID:0061132 autosomal recessive limb-girdle muscular dystrophy type 23 semapv:UnspecifiedMatching MONDO:0029136 muscular dystrophy, limb-girdle, autosomal recessive 23 skos:exactMatch MEDGEN:1648462 semapv:UnspecifiedMatching MONDO:0029136 muscular dystrophy, limb-girdle, autosomal recessive 23 skos:exactMatch OMIM:618138 muscular dystrophy, limb-girdle, autosomal recessive 23 semapv:UnspecifiedMatching MONDO:0029136 muscular dystrophy, limb-girdle, autosomal recessive 23 skos:exactMatch Orphanet:565837 Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23 semapv:UnspecifiedMatching MONDO:0029136 muscular dystrophy, limb-girdle, autosomal recessive 23 skos:exactMatch UMLS:C4748327 semapv:UnspecifiedMatching MONDO:0029137 hearing loss, autosomal dominant 74 skos:exactMatch DOID:0112165 autosomal dominant nonsyndromic deafness 74 semapv:UnspecifiedMatching MONDO:0029137 hearing loss, autosomal dominant 74 skos:exactMatch MEDGEN:1648467 semapv:UnspecifiedMatching MONDO:0029137 hearing loss, autosomal dominant 74 skos:exactMatch OMIM:618140 deafness, autosomal dominant 74 semapv:UnspecifiedMatching MONDO:0029137 hearing loss, autosomal dominant 74 skos:exactMatch UMLS:C4748334 semapv:UnspecifiedMatching MONDO:0029138 developmental and epileptic encephalopathy, 67 skos:exactMatch DOID:0112203 developmental and epileptic encephalopathy 67 semapv:UnspecifiedMatching MONDO:0029138 developmental and epileptic encephalopathy, 67 skos:exactMatch MEDGEN:1648285 semapv:UnspecifiedMatching MONDO:0029138 developmental and epileptic encephalopathy, 67 skos:exactMatch OMIM:618141 developmental and epileptic encephalopathy 67 semapv:UnspecifiedMatching MONDO:0029138 developmental and epileptic encephalopathy, 67 skos:exactMatch UMLS:C4748341 semapv:UnspecifiedMatching MONDO:0029140 glycosylphosphatidylinositol biosynthesis defect 18 skos:exactMatch DOID:0070382 developmental and epileptic encephalopathy 95 semapv:UnspecifiedMatching MONDO:0029140 glycosylphosphatidylinositol biosynthesis defect 18 skos:exactMatch MEDGEN:1648478 semapv:UnspecifiedMatching MONDO:0029140 glycosylphosphatidylinositol biosynthesis defect 18 skos:exactMatch OMIM:618143 developmental and epileptic encephalopathy 95 semapv:UnspecifiedMatching MONDO:0029140 glycosylphosphatidylinositol biosynthesis defect 18 skos:exactMatch UMLS:C4748357 semapv:UnspecifiedMatching MONDO:0029141 Usher syndrome, type 4 skos:exactMatch MEDGEN:1648315 semapv:UnspecifiedMatching MONDO:0029141 Usher syndrome, type 4 skos:exactMatch OMIM:618144 usher syndrome, type 4 semapv:UnspecifiedMatching MONDO:0029141 Usher syndrome, type 4 skos:exactMatch UMLS:C4748364 semapv:UnspecifiedMatching MONDO:0029142 hearing loss, autosomal recessive 111 skos:exactMatch DOID:0111640 autosomal recessive nonsyndromic deafness 111 semapv:UnspecifiedMatching MONDO:0029142 hearing loss, autosomal recessive 111 skos:exactMatch MEDGEN:1648423 semapv:UnspecifiedMatching MONDO:0029142 hearing loss, autosomal recessive 111 skos:exactMatch OMIM:618145 deafness, autosomal recessive 111 semapv:UnspecifiedMatching MONDO:0029142 hearing loss, autosomal recessive 111 skos:exactMatch UMLS:C4748374 semapv:UnspecifiedMatching MONDO:0029143 intellectual developmental disorder with hypertelorism and distinctive facies skos:exactMatch MEDGEN:1648403 semapv:UnspecifiedMatching MONDO:0029143 intellectual developmental disorder with hypertelorism and distinctive facies skos:exactMatch OMIM:618147 intellectual developmental disorder with hypertelorism and distinctive facies semapv:UnspecifiedMatching MONDO:0029143 intellectual developmental disorder with hypertelorism and distinctive facies skos:exactMatch UMLS:C4748381 semapv:UnspecifiedMatching MONDO:0029144 extraoral halitosis due to methanethiol oxidase deficiency skos:exactMatch MEDGEN:1648340 semapv:UnspecifiedMatching MONDO:0029144 extraoral halitosis due to methanethiol oxidase deficiency skos:exactMatch OMIM:618148 extraoral halitosis due to methanethiol oxidase deficiency semapv:UnspecifiedMatching MONDO:0029144 extraoral halitosis due to methanethiol oxidase deficiency skos:exactMatch UMLS:C4748387 semapv:UnspecifiedMatching MONDO:0029145 orofacial cleft 8 skos:exactMatch DOID:0080401 orofacial cleft 8 semapv:UnspecifiedMatching MONDO:0029145 orofacial cleft 8 skos:exactMatch MEDGEN:377541 semapv:UnspecifiedMatching MONDO:0029145 orofacial cleft 8 skos:exactMatch OMIM:618149 orofacial cleft 8 semapv:UnspecifiedMatching MONDO:0029145 orofacial cleft 8 skos:exactMatch UMLS:C1851878 semapv:UnspecifiedMatching MONDO:0029147 spermatogenic failure 33 skos:exactMatch DOID:0111915 spermatogenic failure 33 semapv:UnspecifiedMatching MONDO:0029147 spermatogenic failure 33 skos:exactMatch MEDGEN:1648473 semapv:UnspecifiedMatching MONDO:0029147 spermatogenic failure 33 skos:exactMatch OMIM:618152 spermatogenic failure 33 semapv:UnspecifiedMatching MONDO:0029147 spermatogenic failure 33 skos:exactMatch UMLS:C4748395 semapv:UnspecifiedMatching MONDO:0029148 spermatogenic failure 34 skos:exactMatch DOID:0111911 spermatogenic failure 34 semapv:UnspecifiedMatching MONDO:0029148 spermatogenic failure 34 skos:exactMatch MEDGEN:1648297 semapv:UnspecifiedMatching MONDO:0029148 spermatogenic failure 34 skos:exactMatch OMIM:618153 spermatogenic failure 34 semapv:UnspecifiedMatching MONDO:0029148 spermatogenic failure 34 skos:exactMatch UMLS:C4748403 semapv:UnspecifiedMatching MONDO:0029465 intellectual developmental disorder, autosomal dominant 69 skos:exactMatch DOID:0061042 autosomal dominant intellectual developmental disorder 69 semapv:UnspecifiedMatching MONDO:0029465 intellectual developmental disorder, autosomal dominant 69 skos:exactMatch MEDGEN:1808299 semapv:UnspecifiedMatching MONDO:0029465 intellectual developmental disorder, autosomal dominant 69 skos:exactMatch OMIM:617863 intellectual developmental disorder, autosomal dominant 69 semapv:UnspecifiedMatching MONDO:0029465 intellectual developmental disorder, autosomal dominant 69 skos:exactMatch UMLS:C5676896 semapv:UnspecifiedMatching MONDO:0029810 obsolete laminopathy with striated muscle involvement skos:exactMatch Orphanet:300755 Laminopathy with striated muscle involvement semapv:UnspecifiedMatching MONDO:0029811 obsolete laminopathy with peripheral neuropathy skos:exactMatch Orphanet:300758 Laminopathy with peripheral neuropathy semapv:UnspecifiedMatching MONDO:0029812 obsolete laminopathy with lipodystrophy skos:exactMatch Orphanet:300763 Laminopathy with lipodystrophy semapv:UnspecifiedMatching MONDO:0029813 obsolete laminopathy with premature aging skos:exactMatch Orphanet:300766 Laminopathy with premature aging semapv:UnspecifiedMatching MONDO:0030004 autism, susceptibility to, 20 skos:exactMatch MEDGEN:1717195 semapv:UnspecifiedMatching MONDO:0030004 autism, susceptibility to, 20 skos:exactMatch OMIM:618830 autism, susceptibility to, 20 semapv:UnspecifiedMatching MONDO:0030004 autism, susceptibility to, 20 skos:exactMatch UMLS:C5394226 semapv:UnspecifiedMatching MONDO:0030005 epilepsy, early-onset, with or without developmental delay skos:exactMatch DOID:0070471 early-onset epilepsy 2 semapv:UnspecifiedMatching MONDO:0030005 epilepsy, early-onset, with or without developmental delay skos:exactMatch MEDGEN:1845576 semapv:UnspecifiedMatching MONDO:0030005 epilepsy, early-onset, with or without developmental delay skos:exactMatch OMIM:618832 epilepsy, early-onset, 2, with or without developmental delay semapv:UnspecifiedMatching MONDO:0030005 epilepsy, early-onset, with or without developmental delay skos:exactMatch UMLS:C5882670 semapv:UnspecifiedMatching MONDO:0030006 combined oxidative phosphorylation deficiency 40 skos:exactMatch DOID:0112117 combined oxidative phosphorylation deficiency 40 semapv:UnspecifiedMatching MONDO:0030006 combined oxidative phosphorylation deficiency 40 skos:exactMatch MEDGEN:1714731 semapv:UnspecifiedMatching MONDO:0030006 combined oxidative phosphorylation deficiency 40 skos:exactMatch OMIM:618835 combined oxidative phosphorylation deficiency 40 semapv:UnspecifiedMatching MONDO:0030006 combined oxidative phosphorylation deficiency 40 skos:exactMatch Orphanet:570491 QRSL1-related combined oxidative phosphorylation defect semapv:UnspecifiedMatching MONDO:0030006 combined oxidative phosphorylation deficiency 40 skos:exactMatch UMLS:C5394232 semapv:UnspecifiedMatching MONDO:0030007 combined oxidative phosphorylation deficiency 41 skos:exactMatch DOID:0112119 combined oxidative phosphorylation deficiency 41 semapv:UnspecifiedMatching MONDO:0030007 combined oxidative phosphorylation deficiency 41 skos:exactMatch MEDGEN:1711853 semapv:UnspecifiedMatching MONDO:0030007 combined oxidative phosphorylation deficiency 41 skos:exactMatch OMIM:618838 combined oxidative phosphorylation deficiency 41 semapv:UnspecifiedMatching MONDO:0030007 combined oxidative phosphorylation deficiency 41 skos:exactMatch UMLS:C5394236 semapv:UnspecifiedMatching MONDO:0030008 combined oxidative phosphorylation deficiency 42 skos:exactMatch DOID:0112118 combined oxidative phosphorylation deficiency 42 semapv:UnspecifiedMatching MONDO:0030008 combined oxidative phosphorylation deficiency 42 skos:exactMatch MEDGEN:1709379 semapv:UnspecifiedMatching MONDO:0030008 combined oxidative phosphorylation deficiency 42 skos:exactMatch OMIM:618839 combined oxidative phosphorylation deficiency 42 semapv:UnspecifiedMatching MONDO:0030008 combined oxidative phosphorylation deficiency 42 skos:exactMatch UMLS:C5394237 semapv:UnspecifiedMatching MONDO:0030009 alopecia-intellectual disability syndrome 4 skos:exactMatch DOID:0080950 alopecia-mental retardation syndrome 4 semapv:UnspecifiedMatching MONDO:0030009 alopecia-intellectual disability syndrome 4 skos:exactMatch MEDGEN:1713432 semapv:UnspecifiedMatching MONDO:0030009 alopecia-intellectual disability syndrome 4 skos:exactMatch OMIM:618840 alopecia-intellectual disability syndrome 4 semapv:UnspecifiedMatching MONDO:0030009 alopecia-intellectual disability syndrome 4 skos:exactMatch UMLS:C5394241 semapv:UnspecifiedMatching MONDO:0030010 hypogonadotropic hypogonadism 25 with anosmia skos:exactMatch MEDGEN:1717461 semapv:UnspecifiedMatching MONDO:0030010 hypogonadotropic hypogonadism 25 with anosmia skos:exactMatch OMIM:618841 hypogonadotropic hypogonadism 25 with anosmia semapv:UnspecifiedMatching MONDO:0030010 hypogonadotropic hypogonadism 25 with anosmia skos:exactMatch UMLS:C5394246 semapv:UnspecifiedMatching MONDO:0030012 Diets-Jongmans syndrome skos:exactMatch MEDGEN:1714920 semapv:UnspecifiedMatching MONDO:0030012 Diets-Jongmans syndrome skos:exactMatch OMIM:618846 diets-jongmans syndrome semapv:UnspecifiedMatching MONDO:0030012 Diets-Jongmans syndrome skos:exactMatch UMLS:C5394263 semapv:UnspecifiedMatching MONDO:0030013 immunodeficiency 66 skos:exactMatch DOID:0111998 immunodeficiency 66 semapv:UnspecifiedMatching MONDO:0030013 immunodeficiency 66 skos:exactMatch MEDGEN:1717128 semapv:UnspecifiedMatching MONDO:0030013 immunodeficiency 66 skos:exactMatch OMIM:618847 immunodeficiency 66 semapv:UnspecifiedMatching MONDO:0030013 immunodeficiency 66 skos:exactMatch UMLS:C5394265 semapv:UnspecifiedMatching MONDO:0030014 muscular dystrophy, limb-girdle, autosomal recessive 26 skos:exactMatch DOID:0061131 autosomal recessive limb-girdle muscular dystrophy type 26 semapv:UnspecifiedMatching MONDO:0030014 muscular dystrophy, limb-girdle, autosomal recessive 26 skos:exactMatch MEDGEN:1718449 semapv:UnspecifiedMatching MONDO:0030014 muscular dystrophy, limb-girdle, autosomal recessive 26 skos:exactMatch OMIM:618848 muscular dystrophy, limb-girdle, autosomal recessive 26 semapv:UnspecifiedMatching MONDO:0030014 muscular dystrophy, limb-girdle, autosomal recessive 26 skos:exactMatch UMLS:C5394268 semapv:UnspecifiedMatching MONDO:0030015 bone marrow failure syndrome 6 skos:exactMatch MEDGEN:1717739 semapv:UnspecifiedMatching MONDO:0030015 bone marrow failure syndrome 6 skos:exactMatch OMIM:618849 bone marrow failure syndrome 6 semapv:UnspecifiedMatching MONDO:0030015 bone marrow failure syndrome 6 skos:exactMatch UMLS:C5394274 semapv:UnspecifiedMatching MONDO:0030017 combined oxidative phosphorylation deficiency 43 skos:exactMatch DOID:0112116 combined oxidative phosphorylation deficiency 43 semapv:UnspecifiedMatching MONDO:0030017 combined oxidative phosphorylation deficiency 43 skos:exactMatch MEDGEN:1718250 semapv:UnspecifiedMatching MONDO:0030017 combined oxidative phosphorylation deficiency 43 skos:exactMatch OMIM:618851 combined oxidative phosphorylation deficiency 43 semapv:UnspecifiedMatching MONDO:0030017 combined oxidative phosphorylation deficiency 43 skos:exactMatch UMLS:C5394284 semapv:UnspecifiedMatching MONDO:0030018 autoinflammation with episodic fever and lymphadenopathy skos:exactMatch MEDGEN:1719052 semapv:UnspecifiedMatching MONDO:0030018 autoinflammation with episodic fever and lymphadenopathy skos:exactMatch OMIM:618852 autoinflammation with episodic fever and lymphadenopathy semapv:UnspecifiedMatching MONDO:0030018 autoinflammation with episodic fever and lymphadenopathy skos:exactMatch UMLS:C5394286 semapv:UnspecifiedMatching MONDO:0030019 anauxetic dysplasia 3 skos:exactMatch DOID:0080963 anauxetic dysplasia 3 semapv:UnspecifiedMatching MONDO:0030019 anauxetic dysplasia 3 skos:exactMatch MEDGEN:1718444 semapv:UnspecifiedMatching MONDO:0030019 anauxetic dysplasia 3 skos:exactMatch OMIM:618853 anauxetic dysplasia 3 semapv:UnspecifiedMatching MONDO:0030019 anauxetic dysplasia 3 skos:exactMatch UMLS:C5394289 semapv:UnspecifiedMatching MONDO:0030020 combined oxidative phosphorylation deficiency 44 skos:exactMatch DOID:0070424 combined oxidative phosphorylation deficiency 44 semapv:UnspecifiedMatching MONDO:0030020 combined oxidative phosphorylation deficiency 44 skos:exactMatch MEDGEN:1718899 semapv:UnspecifiedMatching MONDO:0030020 combined oxidative phosphorylation deficiency 44 skos:exactMatch OMIM:618855 combined oxidative phosphorylation deficiency 44 semapv:UnspecifiedMatching MONDO:0030020 combined oxidative phosphorylation deficiency 44 skos:exactMatch UMLS:C5394293 semapv:UnspecifiedMatching MONDO:0030024 neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities skos:exactMatch MEDGEN:1714862 semapv:UnspecifiedMatching MONDO:0030024 neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities skos:exactMatch OMIM:618859 neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities semapv:UnspecifiedMatching MONDO:0030024 neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities skos:exactMatch UMLS:C5394311 semapv:UnspecifiedMatching MONDO:0030025 neurodevelopmental disorder with hypotonia, microcephaly, and seizures skos:exactMatch MEDGEN:1710110 semapv:UnspecifiedMatching MONDO:0030025 neurodevelopmental disorder with hypotonia, microcephaly, and seizures skos:exactMatch OMIM:618862 neurodevelopmental disorder with hypotonia, microcephaly, and seizures semapv:UnspecifiedMatching MONDO:0030025 neurodevelopmental disorder with hypotonia, microcephaly, and seizures skos:exactMatch UMLS:C5394312 semapv:UnspecifiedMatching MONDO:0030026 retinal dystrophy with leukodystrophy skos:exactMatch DOID:0080946 retinal dystrophy with leukodystrophy semapv:UnspecifiedMatching MONDO:0030026 retinal dystrophy with leukodystrophy skos:exactMatch MEDGEN:1715138 semapv:UnspecifiedMatching MONDO:0030026 retinal dystrophy with leukodystrophy skos:exactMatch OMIM:618863 retinal dystrophy with leukodystrophy semapv:UnspecifiedMatching MONDO:0030026 retinal dystrophy with leukodystrophy skos:exactMatch UMLS:C5394315 semapv:UnspecifiedMatching MONDO:0030027 tremor, hereditary essential, 6 skos:exactMatch DOID:0081295 essential tremor 6 semapv:UnspecifiedMatching MONDO:0030027 tremor, hereditary essential, 6 skos:exactMatch MEDGEN:1711112 semapv:UnspecifiedMatching MONDO:0030027 tremor, hereditary essential, 6 skos:exactMatch OMIM:618866 tremor, hereditary essential, 6 semapv:UnspecifiedMatching MONDO:0030027 tremor, hereditary essential, 6 skos:exactMatch UMLS:C5394329 semapv:UnspecifiedMatching MONDO:0030028 neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline skos:exactMatch MEDGEN:1715031 semapv:UnspecifiedMatching MONDO:0030028 neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline skos:exactMatch OMIM:618868 neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline semapv:UnspecifiedMatching MONDO:0030028 neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline skos:exactMatch UMLS:C5394335 semapv:UnspecifiedMatching MONDO:0030029 skeletal dysplasia, mild, with joint laxity and advanced bone age skos:exactMatch MEDGEN:1711043 semapv:UnspecifiedMatching MONDO:0030029 skeletal dysplasia, mild, with joint laxity and advanced bone age skos:exactMatch OMIM:618870 skeletal dysplasia, mild, with joint laxity and advanced bone age semapv:UnspecifiedMatching MONDO:0030029 skeletal dysplasia, mild, with joint laxity and advanced bone age skos:exactMatch UMLS:C5394341 semapv:UnspecifiedMatching MONDO:0030030 Nizon-Isidor syndrome skos:exactMatch MEDGEN:1715748 semapv:UnspecifiedMatching MONDO:0030030 Nizon-Isidor syndrome skos:exactMatch OMIM:618872 nizon-isidor syndrome semapv:UnspecifiedMatching MONDO:0030030 Nizon-Isidor syndrome skos:exactMatch UMLS:C5394350 semapv:UnspecifiedMatching MONDO:0030031 lissencephaly 10 skos:exactMatch DOID:0112229 lissencephaly 10 semapv:UnspecifiedMatching MONDO:0030031 lissencephaly 10 skos:exactMatch MEDGEN:1719546 semapv:UnspecifiedMatching MONDO:0030031 lissencephaly 10 skos:exactMatch OMIM:618873 lissencephaly 10 semapv:UnspecifiedMatching MONDO:0030031 lissencephaly 10 skos:exactMatch UMLS:C5394354 semapv:UnspecifiedMatching MONDO:0030033 seizures, early-onset, with neurodegeneration and brain calcifications skos:exactMatch MEDGEN:1713658 semapv:UnspecifiedMatching MONDO:0030033 seizures, early-onset, with neurodegeneration and brain calcifications skos:exactMatch OMIM:618875 seizures, early-onset, with neurodegeneration and brain calcifications semapv:UnspecifiedMatching MONDO:0030033 seizures, early-onset, with neurodegeneration and brain calcifications skos:exactMatch UMLS:C5394359 semapv:UnspecifiedMatching MONDO:0030034 epilepsy, progressive myoclonic, 11 skos:exactMatch MEDGEN:1716712 semapv:UnspecifiedMatching MONDO:0030034 epilepsy, progressive myoclonic, 11 skos:exactMatch OMIM:618876 epilepsy, progressive myoclonic, 11 semapv:UnspecifiedMatching MONDO:0030034 epilepsy, progressive myoclonic, 11 skos:exactMatch UMLS:C5394362 semapv:UnspecifiedMatching MONDO:0030035 leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome skos:exactMatch MEDGEN:1719567 semapv:UnspecifiedMatching MONDO:0030035 leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome skos:exactMatch OMIM:618877 leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome semapv:UnspecifiedMatching MONDO:0030035 leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome skos:exactMatch UMLS:C5394367 semapv:UnspecifiedMatching MONDO:0030036 leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome skos:exactMatch MEDGEN:1719764 semapv:UnspecifiedMatching MONDO:0030036 leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome skos:exactMatch OMIM:618878 leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome semapv:UnspecifiedMatching MONDO:0030036 leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome skos:exactMatch UMLS:C5394371 semapv:UnspecifiedMatching MONDO:0030037 neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures skos:exactMatch MEDGEN:1710849 semapv:UnspecifiedMatching MONDO:0030037 neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures skos:exactMatch OMIM:618879 neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures semapv:UnspecifiedMatching MONDO:0030037 neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures skos:exactMatch UMLS:C5394372 semapv:UnspecifiedMatching MONDO:0030038 hereditary glaucoma, primary closed-angle skos:exactMatch MEDGEN:1712967 semapv:UnspecifiedMatching MONDO:0030038 hereditary glaucoma, primary closed-angle skos:exactMatch OMIM:618880 glaucoma, primary closed-angle semapv:UnspecifiedMatching MONDO:0030038 hereditary glaucoma, primary closed-angle skos:exactMatch UMLS:C5394374 semapv:UnspecifiedMatching MONDO:0030042 proteinuria, chronic benign skos:exactMatch MEDGEN:1714078 semapv:UnspecifiedMatching MONDO:0030042 proteinuria, chronic benign skos:exactMatch OMIM:618884 proteinuria, chronic benign semapv:UnspecifiedMatching MONDO:0030042 proteinuria, chronic benign skos:exactMatch UMLS:C5394384 semapv:UnspecifiedMatching MONDO:0030043 congenital disorder of glycosylation, type iit skos:exactMatch DOID:0051049 congenital disorder of glycosylation type IIt semapv:UnspecifiedMatching MONDO:0030043 congenital disorder of glycosylation, type iit skos:exactMatch MEDGEN:1709627 semapv:UnspecifiedMatching MONDO:0030043 congenital disorder of glycosylation, type iit skos:exactMatch OMIM:618885 congenital disorder of glycosylation, type iit semapv:UnspecifiedMatching MONDO:0030043 congenital disorder of glycosylation, type iit skos:exactMatch UMLS:C5394387 semapv:UnspecifiedMatching MONDO:0030044 pseudo-TORCH syndrome 3 skos:exactMatch MEDGEN:1708513 semapv:UnspecifiedMatching MONDO:0030044 pseudo-TORCH syndrome 3 skos:exactMatch OMIM:618886 pseudo-torch syndrome 3 semapv:UnspecifiedMatching MONDO:0030044 pseudo-TORCH syndrome 3 skos:exactMatch UMLS:C5394391 semapv:UnspecifiedMatching MONDO:0030045 Liberfarb syndrome skos:exactMatch MEDGEN:1709796 semapv:UnspecifiedMatching MONDO:0030045 Liberfarb syndrome skos:exactMatch OMIM:618889 liberfarb syndrome semapv:UnspecifiedMatching MONDO:0030045 Liberfarb syndrome skos:exactMatch Orphanet:589442 Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome semapv:UnspecifiedMatching MONDO:0030045 Liberfarb syndrome skos:exactMatch UMLS:C5394404 semapv:UnspecifiedMatching MONDO:0030046 neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity skos:exactMatch MEDGEN:1711516 semapv:UnspecifiedMatching MONDO:0030046 neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity skos:exactMatch OMIM:618890 neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity semapv:UnspecifiedMatching MONDO:0030046 neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity skos:exactMatch UMLS:C5394423 semapv:UnspecifiedMatching MONDO:0030047 microcephaly, developmental delay, and brittle hair syndrome skos:exactMatch MEDGEN:1718781 semapv:UnspecifiedMatching MONDO:0030047 microcephaly, developmental delay, and brittle hair syndrome skos:exactMatch OMIM:618891 microcephaly, developmental delay, and brittle hair syndrome semapv:UnspecifiedMatching MONDO:0030047 microcephaly, developmental delay, and brittle hair syndrome skos:exactMatch UMLS:C5394425 semapv:UnspecifiedMatching MONDO:0030048 harderoporphyria skos:exactMatch MEDGEN:137981 semapv:UnspecifiedMatching MONDO:0030048 harderoporphyria skos:exactMatch OMIM:618892 harderoporphyria semapv:UnspecifiedMatching MONDO:0030048 harderoporphyria skos:exactMatch Orphanet:659672 Harderoporphyria semapv:UnspecifiedMatching MONDO:0030048 harderoporphyria skos:exactMatch UMLS:C0342859 semapv:UnspecifiedMatching MONDO:0030048 harderoporphyria skos:exactMatch icd11.foundation:1664486132 Harderoporphyria semapv:UnspecifiedMatching MONDO:0030048 harderoporphyria skos:exactMatch mesh:C562816 semapv:UnspecifiedMatching MONDO:0030049 46,xx sex reversal 5 skos:exactMatch DOID:0080943 46,XX sex reversal 5 semapv:UnspecifiedMatching MONDO:0030049 46,xx sex reversal 5 skos:exactMatch MEDGEN:1713956 semapv:UnspecifiedMatching MONDO:0030049 46,xx sex reversal 5 skos:exactMatch OMIM:618901 46,xx sex reversal 5 semapv:UnspecifiedMatching MONDO:0030049 46,xx sex reversal 5 skos:exactMatch UMLS:C5394441 semapv:UnspecifiedMatching MONDO:0030051 intellectual developmental disorder with autistic features and language delay, with or without seizures skos:exactMatch DOID:0081430 intellectual developmental disorder with autistic features and language delay, with or without seizures semapv:UnspecifiedMatching MONDO:0030051 intellectual developmental disorder with autistic features and language delay, with or without seizures skos:exactMatch MEDGEN:1715081 semapv:UnspecifiedMatching MONDO:0030051 intellectual developmental disorder with autistic features and language delay, with or without seizures skos:exactMatch OMIM:618906 intellectual developmental disorder with autistic features and language delay, with or without seizures semapv:UnspecifiedMatching MONDO:0030051 intellectual developmental disorder with autistic features and language delay, with or without seizures skos:exactMatch UMLS:C5394447 semapv:UnspecifiedMatching MONDO:0030054 developmental and epileptic encephalopathy, 86 skos:exactMatch DOID:0112220 developmental and epileptic encephalopathy 86 semapv:UnspecifiedMatching MONDO:0030054 developmental and epileptic encephalopathy, 86 skos:exactMatch MEDGEN:1711964 semapv:UnspecifiedMatching MONDO:0030054 developmental and epileptic encephalopathy, 86 skos:exactMatch OMIM:618910 developmental and epileptic encephalopathy 86 semapv:UnspecifiedMatching MONDO:0030054 developmental and epileptic encephalopathy, 86 skos:exactMatch UMLS:C5394462 semapv:UnspecifiedMatching MONDO:0030055 neuronopathy, distal hereditary motor, autosomal recessive 8 skos:exactMatch DOID:0081427 autosomal recessive distal hereditary motor neuronopathy 8 semapv:UnspecifiedMatching MONDO:0030055 neuronopathy, distal hereditary motor, autosomal recessive 8 skos:exactMatch MEDGEN:1714781 semapv:UnspecifiedMatching MONDO:0030055 neuronopathy, distal hereditary motor, autosomal recessive 8 skos:exactMatch OMIM:618912 neuronopathy, distal hereditary motor, autosomal recessive 8 semapv:UnspecifiedMatching MONDO:0030055 neuronopathy, distal hereditary motor, autosomal recessive 8 skos:exactMatch Orphanet:700508 Distal muscle weakness-foot deformity-elevated sorbitol level-hereditary motor neuropathy semapv:UnspecifiedMatching MONDO:0030055 neuronopathy, distal hereditary motor, autosomal recessive 8 skos:exactMatch UMLS:C5394466 semapv:UnspecifiedMatching MONDO:0030056 Fanconi renotubular syndrome 5 skos:exactMatch DOID:0080761 Fanconi renotubular syndrome 5 semapv:UnspecifiedMatching MONDO:0030056 Fanconi renotubular syndrome 5 skos:exactMatch MEDGEN:1711127 semapv:UnspecifiedMatching MONDO:0030056 Fanconi renotubular syndrome 5 skos:exactMatch OMIM:618913 fanconi renotubular syndrome 5 semapv:UnspecifiedMatching MONDO:0030056 Fanconi renotubular syndrome 5 skos:exactMatch UMLS:C5394473 semapv:UnspecifiedMatching MONDO:0030057 neurodevelopmental, jaw, eye, and digital syndrome skos:exactMatch MEDGEN:1712714 semapv:UnspecifiedMatching MONDO:0030057 neurodevelopmental, jaw, eye, and digital syndrome skos:exactMatch OMIM:618914 neurodevelopmental, jaw, eye, and digital syndrome semapv:UnspecifiedMatching MONDO:0030057 neurodevelopmental, jaw, eye, and digital syndrome skos:exactMatch UMLS:C5394477 semapv:UnspecifiedMatching MONDO:0030058 hearing loss, autosomal dominant 77 skos:exactMatch DOID:0112168 autosomal dominant nonsyndromic deafness 77 semapv:UnspecifiedMatching MONDO:0030058 hearing loss, autosomal dominant 77 skos:exactMatch MEDGEN:1709284 semapv:UnspecifiedMatching MONDO:0030058 hearing loss, autosomal dominant 77 skos:exactMatch OMIM:618915 deafness, autosomal dominant 77 semapv:UnspecifiedMatching MONDO:0030058 hearing loss, autosomal dominant 77 skos:exactMatch UMLS:C5394499 semapv:UnspecifiedMatching MONDO:0030059 developmental and epileptic encephalopathy, 87 skos:exactMatch DOID:0112221 developmental and epileptic encephalopathy 87 semapv:UnspecifiedMatching MONDO:0030059 developmental and epileptic encephalopathy, 87 skos:exactMatch MEDGEN:1719688 semapv:UnspecifiedMatching MONDO:0030059 developmental and epileptic encephalopathy, 87 skos:exactMatch OMIM:618916 developmental and epileptic encephalopathy 87 semapv:UnspecifiedMatching MONDO:0030059 developmental and epileptic encephalopathy, 87 skos:exactMatch UMLS:C5394501 semapv:UnspecifiedMatching MONDO:0030060 neurodevelopmental disorder with language impairment and behavioral abnormalities skos:exactMatch MEDGEN:1708389 semapv:UnspecifiedMatching MONDO:0030060 neurodevelopmental disorder with language impairment and behavioral abnormalities skos:exactMatch OMIM:618917 neurodevelopmental disorder with language impairment and behavioral abnormalities semapv:UnspecifiedMatching MONDO:0030060 neurodevelopmental disorder with language impairment and behavioral abnormalities skos:exactMatch UMLS:C5394502 semapv:UnspecifiedMatching MONDO:0030061 periventricular nodular heterotopia 9 skos:exactMatch DOID:0061246 semapv:UnspecifiedMatching MONDO:0030061 periventricular nodular heterotopia 9 skos:exactMatch MEDGEN:1718470 semapv:UnspecifiedMatching MONDO:0030061 periventricular nodular heterotopia 9 skos:exactMatch OMIM:618918 periventricular nodular heterotopia 9 semapv:UnspecifiedMatching MONDO:0030061 periventricular nodular heterotopia 9 skos:exactMatch UMLS:C5394503 semapv:UnspecifiedMatching MONDO:0030062 arrhythmogenic right ventricular dysplasia, familial, 14 skos:exactMatch DOID:0080959 arrhythmogenic right ventricular dysplasia 14 semapv:UnspecifiedMatching MONDO:0030062 arrhythmogenic right ventricular dysplasia, familial, 14 skos:exactMatch MEDGEN:1712001 semapv:UnspecifiedMatching MONDO:0030062 arrhythmogenic right ventricular dysplasia, familial, 14 skos:exactMatch OMIM:618920 arrhythmogenic right ventricular dysplasia, familial, 14 semapv:UnspecifiedMatching MONDO:0030062 arrhythmogenic right ventricular dysplasia, familial, 14 skos:exactMatch UMLS:C5394505 semapv:UnspecifiedMatching MONDO:0030063 neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities skos:exactMatch MEDGEN:1708579 semapv:UnspecifiedMatching MONDO:0030063 neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities skos:exactMatch OMIM:618922 neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities semapv:UnspecifiedMatching MONDO:0030063 neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities skos:exactMatch UMLS:C5394517 semapv:UnspecifiedMatching MONDO:0030064 episodic ataxia, type 9 skos:exactMatch DOID:0060965 episodic ataxia type 9 semapv:UnspecifiedMatching MONDO:0030064 episodic ataxia, type 9 skos:exactMatch MEDGEN:1714171 semapv:UnspecifiedMatching MONDO:0030064 episodic ataxia, type 9 skos:exactMatch OMIM:618924 episodic ataxia, type 9 semapv:UnspecifiedMatching MONDO:0030064 episodic ataxia, type 9 skos:exactMatch UMLS:C5394520 semapv:UnspecifiedMatching MONDO:0030065 agenesis of corpus callosum, cardiac, ocular, and genital syndrome skos:exactMatch DOID:0080948 agenesis of corpus callosum, cardiac, ocular, and genital syndrome semapv:UnspecifiedMatching MONDO:0030065 agenesis of corpus callosum, cardiac, ocular, and genital syndrome skos:exactMatch MEDGEN:1718475 semapv:UnspecifiedMatching MONDO:0030065 agenesis of corpus callosum, cardiac, ocular, and genital syndrome skos:exactMatch OMIM:618929 agenesis of corpus callosum, cardiac, ocular, and genital syndrome semapv:UnspecifiedMatching MONDO:0030065 agenesis of corpus callosum, cardiac, ocular, and genital syndrome skos:exactMatch UMLS:C5394523 semapv:UnspecifiedMatching MONDO:0030066 granulomatous disease, chronic, autosomal recessive, 5 skos:exactMatch DOID:0070368 autosomal recessive chronic granulomatous disease 5 semapv:UnspecifiedMatching MONDO:0030066 granulomatous disease, chronic, autosomal recessive, 5 skos:exactMatch MEDGEN:1710326 semapv:UnspecifiedMatching MONDO:0030066 granulomatous disease, chronic, autosomal recessive, 5 skos:exactMatch OMIM:618935 granulomatous disease, chronic, autosomal recessive, 5 semapv:UnspecifiedMatching MONDO:0030066 granulomatous disease, chronic, autosomal recessive, 5 skos:exactMatch UMLS:C5394542 semapv:UnspecifiedMatching MONDO:0030067 Treacher Collins syndrome 4 skos:exactMatch DOID:0080792 Treacher Collins syndrome 4 semapv:UnspecifiedMatching MONDO:0030067 Treacher Collins syndrome 4 skos:exactMatch MEDGEN:1712280 semapv:UnspecifiedMatching MONDO:0030067 Treacher Collins syndrome 4 skos:exactMatch OMIM:618939 treacher collins syndrome 4 semapv:UnspecifiedMatching MONDO:0030067 Treacher Collins syndrome 4 skos:exactMatch UMLS:C5394546 semapv:UnspecifiedMatching MONDO:0030069 hyper-IgE recurrent infection syndrome 5, autosomal recessive skos:exactMatch MEDGEN:1716052 semapv:UnspecifiedMatching MONDO:0030069 hyper-IgE recurrent infection syndrome 5, autosomal recessive skos:exactMatch OMIM:618944 hyper-ige syndrome 5, autosomal recessive, with recurrent infections semapv:UnspecifiedMatching MONDO:0030069 hyper-IgE recurrent infection syndrome 5, autosomal recessive skos:exactMatch UMLS:C5394550 semapv:UnspecifiedMatching MONDO:0030070 heterotaxy, visceral, 9, autosomal, with male infertility skos:exactMatch DOID:0051023 visceral heterotaxy 9 semapv:UnspecifiedMatching MONDO:0030070 heterotaxy, visceral, 9, autosomal, with male infertility skos:exactMatch MEDGEN:1717772 semapv:UnspecifiedMatching MONDO:0030070 heterotaxy, visceral, 9, autosomal, with male infertility skos:exactMatch OMIM:618948 heterotaxy, visceral, 9, autosomal, with male infertility semapv:UnspecifiedMatching MONDO:0030070 heterotaxy, visceral, 9, autosomal, with male infertility skos:exactMatch UMLS:C5394551 semapv:UnspecifiedMatching MONDO:0030071 retinitis pigmentosa 89 skos:exactMatch DOID:0112146 retinitis pigmentosa 89 semapv:UnspecifiedMatching MONDO:0030071 retinitis pigmentosa 89 skos:exactMatch MEDGEN:1710499 semapv:UnspecifiedMatching MONDO:0030071 retinitis pigmentosa 89 skos:exactMatch OMIM:618955 retinitis pigmentosa 89 semapv:UnspecifiedMatching MONDO:0030071 retinitis pigmentosa 89 skos:exactMatch UMLS:C5394552 semapv:UnspecifiedMatching MONDO:0030072 developmental and epileptic encephalopathy, 88 skos:exactMatch DOID:0112222 developmental and epileptic encephalopathy 88 semapv:UnspecifiedMatching MONDO:0030072 developmental and epileptic encephalopathy, 88 skos:exactMatch MEDGEN:1712195 semapv:UnspecifiedMatching MONDO:0030072 developmental and epileptic encephalopathy, 88 skos:exactMatch OMIM:618959 developmental and epileptic encephalopathy 88 semapv:UnspecifiedMatching MONDO:0030072 developmental and epileptic encephalopathy, 88 skos:exactMatch UMLS:C5394553 semapv:UnspecifiedMatching MONDO:0030073 Mitchell syndrome skos:exactMatch DOID:0070516 Mitchell syndrome semapv:UnspecifiedMatching MONDO:0030073 Mitchell syndrome skos:exactMatch MEDGEN:1714342 semapv:UnspecifiedMatching MONDO:0030073 Mitchell syndrome skos:exactMatch OMIM:618960 mitchell syndrome semapv:UnspecifiedMatching MONDO:0030073 Mitchell syndrome skos:exactMatch Orphanet:631248 Mitchell Syndrome semapv:UnspecifiedMatching MONDO:0030073 Mitchell syndrome skos:exactMatch UMLS:C5394554 semapv:UnspecifiedMatching MONDO:0030074 spondylometaphyseal dysplasia with corneal dystrophy skos:exactMatch DOID:0112303 spondylometaphyseal dysplasia with corneal dystrophy semapv:UnspecifiedMatching MONDO:0030074 spondylometaphyseal dysplasia with corneal dystrophy skos:exactMatch MEDGEN:1714019 semapv:UnspecifiedMatching MONDO:0030074 spondylometaphyseal dysplasia with corneal dystrophy skos:exactMatch OMIM:618961 spondylometaphyseal dysplasia with corneal dystrophy semapv:UnspecifiedMatching MONDO:0030074 spondylometaphyseal dysplasia with corneal dystrophy skos:exactMatch Orphanet:589435 Spondylometaphyseal dysplasia-corneal dystrophy syndrome semapv:UnspecifiedMatching MONDO:0030074 spondylometaphyseal dysplasia with corneal dystrophy skos:exactMatch UMLS:C5394555 semapv:UnspecifiedMatching MONDO:0030077 vertebral, cardiac, renal, and limb defects syndrome 3 skos:exactMatch MEDGEN:1709064 semapv:UnspecifiedMatching MONDO:0030077 vertebral, cardiac, renal, and limb defects syndrome 3 skos:exactMatch OMIM:618845 vertebral, cardiac, renal, and limb defects syndrome 3 semapv:UnspecifiedMatching MONDO:0030077 vertebral, cardiac, renal, and limb defects syndrome 3 skos:exactMatch UMLS:C5394250 semapv:UnspecifiedMatching MONDO:0030087 diabetes mellitus, permanent neonatal 2 skos:exactMatch MEDGEN:1713823 semapv:UnspecifiedMatching MONDO:0030087 diabetes mellitus, permanent neonatal 2 skos:exactMatch OMIM:618856 diabetes mellitus, permanent neonatal, 2 semapv:UnspecifiedMatching MONDO:0030087 diabetes mellitus, permanent neonatal 2 skos:exactMatch UMLS:C5394296 semapv:UnspecifiedMatching MONDO:0030088 diabetes mellitus, permanent neonatal 3 skos:exactMatch MEDGEN:1717271 semapv:UnspecifiedMatching MONDO:0030088 diabetes mellitus, permanent neonatal 3 skos:exactMatch OMIM:618857 diabetes mellitus, permanent neonatal, 3 semapv:UnspecifiedMatching MONDO:0030088 diabetes mellitus, permanent neonatal 3 skos:exactMatch UMLS:C5394303 semapv:UnspecifiedMatching MONDO:0030089 diabetes mellitus, permanent neonatal 4 skos:exactMatch MEDGEN:1711191 semapv:UnspecifiedMatching MONDO:0030089 diabetes mellitus, permanent neonatal 4 skos:exactMatch OMIM:618858 diabetes mellitus, permanent neonatal, 4 semapv:UnspecifiedMatching MONDO:0030089 diabetes mellitus, permanent neonatal 4 skos:exactMatch UMLS:C5394307 semapv:UnspecifiedMatching MONDO:0030105 galactosemia 4 skos:exactMatch DOID:0060969 galactosemia 4 semapv:UnspecifiedMatching MONDO:0030105 galactosemia 4 skos:exactMatch MEDGEN:1718159 semapv:UnspecifiedMatching MONDO:0030105 galactosemia 4 skos:exactMatch OMIM:618881 galactosemia 4 semapv:UnspecifiedMatching MONDO:0030105 galactosemia 4 skos:exactMatch Orphanet:570422 Galactose mutarotase deficiency semapv:UnspecifiedMatching MONDO:0030105 galactosemia 4 skos:exactMatch UMLS:C5394377 semapv:UnspecifiedMatching MONDO:0030116 silver-russell syndrome 2 skos:exactMatch MEDGEN:1714148 semapv:UnspecifiedMatching MONDO:0030116 silver-russell syndrome 2 skos:exactMatch OMIM:618905 silver-russell syndrome 2 semapv:UnspecifiedMatching MONDO:0030116 silver-russell syndrome 2 skos:exactMatch UMLS:C5394446 semapv:UnspecifiedMatching MONDO:0030118 silver-russell syndrome 4 skos:exactMatch MEDGEN:1712866 semapv:UnspecifiedMatching MONDO:0030118 silver-russell syndrome 4 skos:exactMatch OMIM:618907 silver-russell syndrome 4 semapv:UnspecifiedMatching MONDO:0030118 silver-russell syndrome 4 skos:exactMatch UMLS:C5394450 semapv:UnspecifiedMatching MONDO:0030134 oculopharyngodistal myopathy 2 skos:exactMatch DOID:0081298 oculopharyngodistal myopathy 2 semapv:UnspecifiedMatching MONDO:0030134 oculopharyngodistal myopathy 2 skos:exactMatch MEDGEN:1718769 semapv:UnspecifiedMatching MONDO:0030134 oculopharyngodistal myopathy 2 skos:exactMatch OMIM:618940 oculopharyngodistal myopathy 2 semapv:UnspecifiedMatching MONDO:0030134 oculopharyngodistal myopathy 2 skos:exactMatch UMLS:C5394548 semapv:UnspecifiedMatching MONDO:0030258 pontocerebellar hypoplasia, type 14 skos:exactMatch DOID:0112325 pontocerebellar hypoplasia type 14 semapv:UnspecifiedMatching MONDO:0030258 pontocerebellar hypoplasia, type 14 skos:exactMatch MEDGEN:1778516 semapv:UnspecifiedMatching MONDO:0030258 pontocerebellar hypoplasia, type 14 skos:exactMatch OMIM:619301 pontocerebellar hypoplasia, type 14 semapv:UnspecifiedMatching MONDO:0030258 pontocerebellar hypoplasia, type 14 skos:exactMatch Orphanet:613274 Pontocerebellar hypoplasia type 14 semapv:UnspecifiedMatching MONDO:0030258 pontocerebellar hypoplasia, type 14 skos:exactMatch UMLS:C5543322 semapv:UnspecifiedMatching MONDO:0030259 pontocerebellar hypoplasia, type 15 skos:exactMatch DOID:0112326 pontocerebellar hypoplasia type 15 semapv:UnspecifiedMatching MONDO:0030259 pontocerebellar hypoplasia, type 15 skos:exactMatch MEDGEN:1781311 semapv:UnspecifiedMatching MONDO:0030259 pontocerebellar hypoplasia, type 15 skos:exactMatch OMIM:619302 pontocerebellar hypoplasia, type 15 semapv:UnspecifiedMatching MONDO:0030259 pontocerebellar hypoplasia, type 15 skos:exactMatch UMLS:C5543326 semapv:UnspecifiedMatching MONDO:0030260 pontocerebellar hypoplasia, type 1E skos:exactMatch DOID:0112330 pontocerebellar hypoplasia type 1E semapv:UnspecifiedMatching MONDO:0030260 pontocerebellar hypoplasia, type 1E skos:exactMatch MEDGEN:1788285 semapv:UnspecifiedMatching MONDO:0030260 pontocerebellar hypoplasia, type 1E skos:exactMatch OMIM:619303 pontocerebellar hypoplasia, type 1e semapv:UnspecifiedMatching MONDO:0030260 pontocerebellar hypoplasia, type 1E skos:exactMatch UMLS:C5543328 semapv:UnspecifiedMatching MONDO:0030261 pontocerebellar hypoplasia, type 1F skos:exactMatch DOID:0112331 pontocerebellar hypoplasia type 1F semapv:UnspecifiedMatching MONDO:0030261 pontocerebellar hypoplasia, type 1F skos:exactMatch MEDGEN:1785905 semapv:UnspecifiedMatching MONDO:0030261 pontocerebellar hypoplasia, type 1F skos:exactMatch OMIM:619304 pontocerebellar hypoplasia, type 1f semapv:UnspecifiedMatching MONDO:0030261 pontocerebellar hypoplasia, type 1F skos:exactMatch UMLS:C5543331 semapv:UnspecifiedMatching MONDO:0030263 leukodystrophy, hypomyelinating, 21 skos:exactMatch DOID:0070407 hypomyelinating leukodystrophy 21 semapv:UnspecifiedMatching MONDO:0030263 leukodystrophy, hypomyelinating, 21 skos:exactMatch MEDGEN:1778269 semapv:UnspecifiedMatching MONDO:0030263 leukodystrophy, hypomyelinating, 21 skos:exactMatch OMIM:619310 leukodystrophy, hypomyelinating, 21 semapv:UnspecifiedMatching MONDO:0030263 leukodystrophy, hypomyelinating, 21 skos:exactMatch UMLS:C5543334 semapv:UnspecifiedMatching MONDO:0030266 immunodeficiency 80 with or without congenital cardiomyopathy skos:exactMatch DOID:0061051 immunodeficiency 80 semapv:UnspecifiedMatching MONDO:0030266 immunodeficiency 80 with or without congenital cardiomyopathy skos:exactMatch MEDGEN:1786417 semapv:UnspecifiedMatching MONDO:0030266 immunodeficiency 80 with or without congenital cardiomyopathy skos:exactMatch OMIM:619313 immunodeficiency 80 with or without congenital cardiomyopathy semapv:UnspecifiedMatching MONDO:0030266 immunodeficiency 80 with or without congenital cardiomyopathy skos:exactMatch UMLS:C5543344 semapv:UnspecifiedMatching MONDO:0030268 developmental and epileptic encephalopathy 6B skos:exactMatch DOID:0070379 developmental and epileptic encephalopathy 6B semapv:UnspecifiedMatching MONDO:0030268 developmental and epileptic encephalopathy 6B skos:exactMatch MEDGEN:1779648 semapv:UnspecifiedMatching MONDO:0030268 developmental and epileptic encephalopathy 6B skos:exactMatch OMIM:619317 developmental and epileptic encephalopathy 6b semapv:UnspecifiedMatching MONDO:0030268 developmental and epileptic encephalopathy 6B skos:exactMatch UMLS:C5543353 semapv:UnspecifiedMatching MONDO:0030270 lymphatic malformation 9 skos:exactMatch MEDGEN:1779656 semapv:UnspecifiedMatching MONDO:0030270 lymphatic malformation 9 skos:exactMatch OMIM:619319 lymphatic malformation 9 semapv:UnspecifiedMatching MONDO:0030270 lymphatic malformation 9 skos:exactMatch UMLS:C5543365 semapv:UnspecifiedMatching MONDO:0030281 arthrogryposis multiplex congenita 6 skos:exactMatch DOID:0070336 arthrogryposis multiplex congenita-6 semapv:UnspecifiedMatching MONDO:0030281 arthrogryposis multiplex congenita 6 skos:exactMatch MEDGEN:1786758 semapv:UnspecifiedMatching MONDO:0030281 arthrogryposis multiplex congenita 6 skos:exactMatch OMIM:619334 arthrogryposis multiplex congenita 6 semapv:UnspecifiedMatching MONDO:0030281 arthrogryposis multiplex congenita 6 skos:exactMatch UMLS:C5543431 semapv:UnspecifiedMatching MONDO:0030293 angioedema, hereditary, 5 skos:exactMatch MEDGEN:1780904 semapv:UnspecifiedMatching MONDO:0030293 angioedema, hereditary, 5 skos:exactMatch OMIM:619361 angioedema, hereditary, 5 semapv:UnspecifiedMatching MONDO:0030293 angioedema, hereditary, 5 skos:exactMatch UMLS:C5543508 semapv:UnspecifiedMatching MONDO:0030294 megacystis-microcolon-intestinal hypoperistalsis syndrome 3 skos:exactMatch MEDGEN:1780019 semapv:UnspecifiedMatching MONDO:0030294 megacystis-microcolon-intestinal hypoperistalsis syndrome 3 skos:exactMatch OMIM:619362 megacystis-microcolon-intestinal hypoperistalsis syndrome 3 semapv:UnspecifiedMatching MONDO:0030294 megacystis-microcolon-intestinal hypoperistalsis syndrome 3 skos:exactMatch UMLS:C5543513 semapv:UnspecifiedMatching MONDO:0030296 megacystis-microcolon-intestinal hypoperistalsis syndrome 4 skos:exactMatch MEDGEN:1783600 semapv:UnspecifiedMatching MONDO:0030296 megacystis-microcolon-intestinal hypoperistalsis syndrome 4 skos:exactMatch OMIM:619365 megacystis-microcolon-intestinal hypoperistalsis syndrome 4 semapv:UnspecifiedMatching MONDO:0030296 megacystis-microcolon-intestinal hypoperistalsis syndrome 4 skos:exactMatch UMLS:C5543519 semapv:UnspecifiedMatching MONDO:0030298 angioedema, hereditary, 8 skos:exactMatch MEDGEN:1780930 semapv:UnspecifiedMatching MONDO:0030298 angioedema, hereditary, 8 skos:exactMatch OMIM:619367 angioedema, hereditary, 8 semapv:UnspecifiedMatching MONDO:0030298 angioedema, hereditary, 8 skos:exactMatch UMLS:C5543528 semapv:UnspecifiedMatching MONDO:0030300 cardiomyopathy, dilated, 2D skos:exactMatch DOID:0081160 dilated cardiomyopathy 2D semapv:UnspecifiedMatching MONDO:0030300 cardiomyopathy, dilated, 2D skos:exactMatch MEDGEN:1782612 semapv:UnspecifiedMatching MONDO:0030300 cardiomyopathy, dilated, 2D skos:exactMatch OMIM:619371 cardiomyopathy, dilated, 2d semapv:UnspecifiedMatching MONDO:0030300 cardiomyopathy, dilated, 2D skos:exactMatch UMLS:C5543535 semapv:UnspecifiedMatching MONDO:0030302 immunodeficiency 81 skos:exactMatch DOID:0061052 immunodeficiency 81 semapv:UnspecifiedMatching MONDO:0030302 immunodeficiency 81 skos:exactMatch MEDGEN:1788669 semapv:UnspecifiedMatching MONDO:0030302 immunodeficiency 81 skos:exactMatch OMIM:619374 immunodeficiency 81 semapv:UnspecifiedMatching MONDO:0030302 immunodeficiency 81 skos:exactMatch UMLS:C5543540 semapv:UnspecifiedMatching MONDO:0030307 spermatogenic failure 55 skos:exactMatch DOID:0112337 spermatogenic failure 55 semapv:UnspecifiedMatching MONDO:0030307 spermatogenic failure 55 skos:exactMatch MEDGEN:1781781 semapv:UnspecifiedMatching MONDO:0030307 spermatogenic failure 55 skos:exactMatch OMIM:619380 spermatogenic failure 55 semapv:UnspecifiedMatching MONDO:0030307 spermatogenic failure 55 skos:exactMatch UMLS:C5543580 semapv:UnspecifiedMatching MONDO:0030308 immunodeficiency 82 with systemic inflammation skos:exactMatch DOID:0061053 immunodeficiency 82 semapv:UnspecifiedMatching MONDO:0030308 immunodeficiency 82 with systemic inflammation skos:exactMatch MEDGEN:1781752 semapv:UnspecifiedMatching MONDO:0030308 immunodeficiency 82 with systemic inflammation skos:exactMatch OMIM:619381 immunodeficiency 82 with systemic inflammation semapv:UnspecifiedMatching MONDO:0030308 immunodeficiency 82 with systemic inflammation skos:exactMatch Orphanet:695807 Immunodeficiency-systemic inflammation-lymphoma predisposition syndrome semapv:UnspecifiedMatching MONDO:0030308 immunodeficiency 82 with systemic inflammation skos:exactMatch UMLS:C5543581 semapv:UnspecifiedMatching MONDO:0030309 Leber hereditary optic neuropathy, autosomal recessive skos:exactMatch MEDGEN:1786310 semapv:UnspecifiedMatching MONDO:0030309 Leber hereditary optic neuropathy, autosomal recessive skos:exactMatch OMIMPS:619382 Leber hereditary optic neuropathy, autosomal recessive semapv:UnspecifiedMatching MONDO:0030309 Leber hereditary optic neuropathy, autosomal recessive skos:exactMatch UMLS:C5543589 semapv:UnspecifiedMatching MONDO:0030311 combined oxidative phosphorylation deficiency 52 skos:exactMatch DOID:0070425 combined oxidative phosphorylation deficiency 52 semapv:UnspecifiedMatching MONDO:0030311 combined oxidative phosphorylation deficiency 52 skos:exactMatch MEDGEN:1780479 semapv:UnspecifiedMatching MONDO:0030311 combined oxidative phosphorylation deficiency 52 skos:exactMatch OMIM:619386 combined oxidative phosphorylation deficiency 52 semapv:UnspecifiedMatching MONDO:0030311 combined oxidative phosphorylation deficiency 52 skos:exactMatch UMLS:C5543592 semapv:UnspecifiedMatching MONDO:0030312 spinocerebellar ataxia, autosomal recessive 29 skos:exactMatch DOID:0070410 autosomal recessive spinocerebellar ataxia 29 semapv:UnspecifiedMatching MONDO:0030312 spinocerebellar ataxia, autosomal recessive 29 skos:exactMatch MEDGEN:1788435 semapv:UnspecifiedMatching MONDO:0030312 spinocerebellar ataxia, autosomal recessive 29 skos:exactMatch OMIM:619389 spinocerebellar ataxia, autosomal recessive 29 semapv:UnspecifiedMatching MONDO:0030312 spinocerebellar ataxia, autosomal recessive 29 skos:exactMatch UMLS:C5543595 semapv:UnspecifiedMatching MONDO:0030313 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10 skos:exactMatch MEDGEN:1782836 semapv:UnspecifiedMatching MONDO:0030313 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10 skos:exactMatch OMIM:619396 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10 semapv:UnspecifiedMatching MONDO:0030313 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10 skos:exactMatch UMLS:C5543600 semapv:UnspecifiedMatching MONDO:0030314 inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive skos:exactMatch MEDGEN:1783277 semapv:UnspecifiedMatching MONDO:0030314 inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive skos:exactMatch OMIM:619398 inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive semapv:UnspecifiedMatching MONDO:0030314 inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive skos:exactMatch UMLS:C5444224 semapv:UnspecifiedMatching MONDO:0030316 lymphatic malformation 11 skos:exactMatch MEDGEN:1784862 semapv:UnspecifiedMatching MONDO:0030316 lymphatic malformation 11 skos:exactMatch OMIM:619401 lymphatic malformation 11 semapv:UnspecifiedMatching MONDO:0030316 lymphatic malformation 11 skos:exactMatch UMLS:C5543614 semapv:UnspecifiedMatching MONDO:0030317 cardiomyopathy, familial hypertrophic, 28 skos:exactMatch MEDGEN:1779612 semapv:UnspecifiedMatching MONDO:0030317 cardiomyopathy, familial hypertrophic, 28 skos:exactMatch OMIM:619402 cardiomyopathy, familial hypertrophic, 28 semapv:UnspecifiedMatching MONDO:0030317 cardiomyopathy, familial hypertrophic, 28 skos:exactMatch UMLS:C5543616 semapv:UnspecifiedMatching MONDO:0030318 spinocerebellar ataxia, autosomal recessive 30 skos:exactMatch DOID:0070411 autosomal recessive spinocerebellar ataxia 30 semapv:UnspecifiedMatching MONDO:0030318 spinocerebellar ataxia, autosomal recessive 30 skos:exactMatch MEDGEN:1778853 semapv:UnspecifiedMatching MONDO:0030318 spinocerebellar ataxia, autosomal recessive 30 skos:exactMatch OMIM:619405 spinocerebellar ataxia, autosomal recessive 30 semapv:UnspecifiedMatching MONDO:0030318 spinocerebellar ataxia, autosomal recessive 30 skos:exactMatch UMLS:C5543620 semapv:UnspecifiedMatching MONDO:0030323 spinocerebellar ataxia, autosomal recessive 31 skos:exactMatch DOID:0070412 autosomal recessive spinocerebellar ataxia 31 semapv:UnspecifiedMatching MONDO:0030323 spinocerebellar ataxia, autosomal recessive 31 skos:exactMatch MEDGEN:1786855 semapv:UnspecifiedMatching MONDO:0030323 spinocerebellar ataxia, autosomal recessive 31 skos:exactMatch OMIM:619422 spinocerebellar ataxia, autosomal recessive 31 semapv:UnspecifiedMatching MONDO:0030323 spinocerebellar ataxia, autosomal recessive 31 skos:exactMatch UMLS:C5543627 semapv:UnspecifiedMatching MONDO:0030326 mitochondrial dna depletion syndrome 16B (neuroophthalmic type) skos:exactMatch DOID:0070447 mitochondrial DNA depletion syndrome 16B semapv:UnspecifiedMatching MONDO:0030326 mitochondrial dna depletion syndrome 16B (neuroophthalmic type) skos:exactMatch MEDGEN:1780329 semapv:UnspecifiedMatching MONDO:0030326 mitochondrial dna depletion syndrome 16B (neuroophthalmic type) skos:exactMatch OMIM:619425 mitochondrial DNA depletion syndrome 16b (neuroophthalmic type) semapv:UnspecifiedMatching MONDO:0030326 mitochondrial dna depletion syndrome 16B (neuroophthalmic type) skos:exactMatch UMLS:C5543632 semapv:UnspecifiedMatching MONDO:0030329 megacystis-microcolon-intestinal hypoperistalsis syndrome 5 skos:exactMatch MEDGEN:1782906 semapv:UnspecifiedMatching MONDO:0030329 megacystis-microcolon-intestinal hypoperistalsis syndrome 5 skos:exactMatch OMIM:619431 megacystis-microcolon-intestinal hypoperistalsis syndrome 5 semapv:UnspecifiedMatching MONDO:0030329 megacystis-microcolon-intestinal hypoperistalsis syndrome 5 skos:exactMatch UMLS:C5543636 semapv:UnspecifiedMatching MONDO:0030330 cardiomyopathy, familial restrictive, 6 skos:exactMatch DOID:0061025 familial restrictive cardiomyopathy 6 semapv:UnspecifiedMatching MONDO:0030330 cardiomyopathy, familial restrictive, 6 skos:exactMatch MEDGEN:1780781 semapv:UnspecifiedMatching MONDO:0030330 cardiomyopathy, familial restrictive, 6 skos:exactMatch OMIM:619433 cardiomyopathy, familial restrictive, 6 semapv:UnspecifiedMatching MONDO:0030330 cardiomyopathy, familial restrictive, 6 skos:exactMatch UMLS:C5543638 semapv:UnspecifiedMatching MONDO:0030331 Ritscher-Schinzel syndrome 4 skos:exactMatch MEDGEN:1794149 semapv:UnspecifiedMatching MONDO:0030331 Ritscher-Schinzel syndrome 4 skos:exactMatch OMIM:619435 ritscher-schinzel syndrome 4 semapv:UnspecifiedMatching MONDO:0030331 Ritscher-Schinzel syndrome 4 skos:exactMatch UMLS:C5561939 semapv:UnspecifiedMatching MONDO:0030332 ciliary dyskinesia, primary, 46 skos:exactMatch MEDGEN:1780196 semapv:UnspecifiedMatching MONDO:0030332 ciliary dyskinesia, primary, 46 skos:exactMatch OMIM:619436 ciliary dyskinesia, primary, 46 semapv:UnspecifiedMatching MONDO:0030332 ciliary dyskinesia, primary, 46 skos:exactMatch UMLS:C5543646 semapv:UnspecifiedMatching MONDO:0030333 immunodeficiency 84 skos:exactMatch DOID:0061054 immunodeficiency 84 semapv:UnspecifiedMatching MONDO:0030333 immunodeficiency 84 skos:exactMatch MEDGEN:1794150 semapv:UnspecifiedMatching MONDO:0030333 immunodeficiency 84 skos:exactMatch OMIM:619437 immunodeficiency 84 semapv:UnspecifiedMatching MONDO:0030333 immunodeficiency 84 skos:exactMatch Orphanet:697385 Combined immunodeficiency-cancer predisposing syndrome due to AIOLOS deficiency semapv:UnspecifiedMatching MONDO:0030333 immunodeficiency 84 skos:exactMatch UMLS:C5561940 semapv:UnspecifiedMatching MONDO:0030334 encephalitis, acute, infection (viral)-induced, susceptibility to, 11 skos:exactMatch MEDGEN:1794151 semapv:UnspecifiedMatching MONDO:0030334 encephalitis, acute, infection (viral)-induced, susceptibility to, 11 skos:exactMatch OMIM:619441 encephalitis, acute, infection (viral)-induced, susceptibility to, 11 semapv:UnspecifiedMatching MONDO:0030334 encephalitis, acute, infection (viral)-induced, susceptibility to, 11 skos:exactMatch UMLS:C5561941 semapv:UnspecifiedMatching MONDO:0030335 diarrhea 12, with microvillus atrophy skos:exactMatch MEDGEN:1794152 semapv:UnspecifiedMatching MONDO:0030335 diarrhea 12, with microvillus atrophy skos:exactMatch OMIM:619445 diarrhea 12, with microvillus atrophy semapv:UnspecifiedMatching MONDO:0030335 diarrhea 12, with microvillus atrophy skos:exactMatch UMLS:C5561942 semapv:UnspecifiedMatching MONDO:0030337 cutis laxa, autosomal recessive, type 2E skos:exactMatch MEDGEN:1794154 semapv:UnspecifiedMatching MONDO:0030337 cutis laxa, autosomal recessive, type 2E skos:exactMatch OMIM:619451 cutis laxa, autosomal recessive, type 2e semapv:UnspecifiedMatching MONDO:0030337 cutis laxa, autosomal recessive, type 2E skos:exactMatch UMLS:C5561944 semapv:UnspecifiedMatching MONDO:0030338 anencephaly 2 skos:exactMatch MEDGEN:1794155 semapv:UnspecifiedMatching MONDO:0030338 anencephaly 2 skos:exactMatch OMIM:619452 anencephaly 2 semapv:UnspecifiedMatching MONDO:0030338 anencephaly 2 skos:exactMatch UMLS:C5561945 semapv:UnspecifiedMatching MONDO:0030339 microcephaly 28, primary, autosomal recessive skos:exactMatch DOID:0051039 primary autosomal recessive microcephaly 28 semapv:UnspecifiedMatching MONDO:0030339 microcephaly 28, primary, autosomal recessive skos:exactMatch MEDGEN:1794279 semapv:UnspecifiedMatching MONDO:0030339 microcephaly 28, primary, autosomal recessive skos:exactMatch OMIM:619453 microcephaly 28, primary, autosomal recessive semapv:UnspecifiedMatching MONDO:0030339 microcephaly 28, primary, autosomal recessive skos:exactMatch UMLS:C5562069 semapv:UnspecifiedMatching MONDO:0030341 myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive skos:exactMatch MEDGEN:1794157 semapv:UnspecifiedMatching MONDO:0030341 myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive skos:exactMatch OMIM:619461 myasthenic syndrome, congenital, 7b, presynaptic, autosomal recessive semapv:UnspecifiedMatching MONDO:0030341 myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive skos:exactMatch UMLS:C5561947 semapv:UnspecifiedMatching MONDO:0030346 ciliary dyskinesia, primary, 47, and lissencephaly skos:exactMatch MEDGEN:1794161 semapv:UnspecifiedMatching MONDO:0030346 ciliary dyskinesia, primary, 47, and lissencephaly skos:exactMatch OMIM:619466 ciliary dyskinesia, primary, 47, and lissencephaly semapv:UnspecifiedMatching MONDO:0030346 ciliary dyskinesia, primary, 47, and lissencephaly skos:exactMatch UMLS:C5561951 semapv:UnspecifiedMatching MONDO:0030353 Joubert syndrome 38 skos:exactMatch MEDGEN:1794168 semapv:UnspecifiedMatching MONDO:0030353 Joubert syndrome 38 skos:exactMatch OMIM:619476 joubert syndrome 38 semapv:UnspecifiedMatching MONDO:0030353 Joubert syndrome 38 skos:exactMatch UMLS:C5561958 semapv:UnspecifiedMatching MONDO:0030354 facioscapulohumeral muscular dystrophy 3, digenic skos:exactMatch DOID:0060917 facioscapulohumeral muscular dystrophy 3 semapv:UnspecifiedMatching MONDO:0030354 facioscapulohumeral muscular dystrophy 3, digenic skos:exactMatch MEDGEN:1794169 semapv:UnspecifiedMatching MONDO:0030354 facioscapulohumeral muscular dystrophy 3, digenic skos:exactMatch OMIM:619477 facioscapulohumeral muscular dystrophy 3, digenic semapv:UnspecifiedMatching MONDO:0030354 facioscapulohumeral muscular dystrophy 3, digenic skos:exactMatch UMLS:C5561959 semapv:UnspecifiedMatching MONDO:0030355 facioscapulohumeral muscular dystrophy 4, digenic skos:exactMatch DOID:0060918 facioscapulohumeral muscular dystrophy 4 semapv:UnspecifiedMatching MONDO:0030355 facioscapulohumeral muscular dystrophy 4, digenic skos:exactMatch MEDGEN:1794170 semapv:UnspecifiedMatching MONDO:0030355 facioscapulohumeral muscular dystrophy 4, digenic skos:exactMatch OMIM:619478 facioscapulohumeral muscular dystrophy 4, digenic semapv:UnspecifiedMatching MONDO:0030355 facioscapulohumeral muscular dystrophy 4, digenic skos:exactMatch UMLS:C5561960 semapv:UnspecifiedMatching MONDO:0030356 short-rib thoracic dysplasia 21 without polydactyly skos:exactMatch MEDGEN:1794171 semapv:UnspecifiedMatching MONDO:0030356 short-rib thoracic dysplasia 21 without polydactyly skos:exactMatch OMIM:619479 short-rib thoracic dysplasia 21 without polydactyly semapv:UnspecifiedMatching MONDO:0030356 short-rib thoracic dysplasia 21 without polydactyly skos:exactMatch UMLS:C5561961 semapv:UnspecifiedMatching MONDO:0030360 cholestasis, progressive familial intrahepatic, 6 skos:exactMatch MEDGEN:1794175 semapv:UnspecifiedMatching MONDO:0030360 cholestasis, progressive familial intrahepatic, 6 skos:exactMatch OMIM:619484 cholestasis, progressive familial intrahepatic, 6 semapv:UnspecifiedMatching MONDO:0030360 cholestasis, progressive familial intrahepatic, 6 skos:exactMatch UMLS:C5561965 semapv:UnspecifiedMatching MONDO:0030361 Aicardi-Goutieres syndrome 8 skos:exactMatch MEDGEN:1790409 semapv:UnspecifiedMatching MONDO:0030361 Aicardi-Goutieres syndrome 8 skos:exactMatch OMIM:619486 aicardi-goutieres syndrome 8 semapv:UnspecifiedMatching MONDO:0030361 Aicardi-Goutieres syndrome 8 skos:exactMatch UMLS:C5551352 semapv:UnspecifiedMatching MONDO:0030362 Aicardi-Goutieres syndrome 9 skos:exactMatch MEDGEN:1794176 semapv:UnspecifiedMatching MONDO:0030362 Aicardi-Goutieres syndrome 9 skos:exactMatch OMIM:619487 aicardi-goutieres syndrome 9 semapv:UnspecifiedMatching MONDO:0030362 Aicardi-Goutieres syndrome 9 skos:exactMatch UMLS:C5561966 semapv:UnspecifiedMatching MONDO:0030366 cardiomyopathy, dilated, 2E skos:exactMatch DOID:0081161 dilated cardiomyopathy 2E semapv:UnspecifiedMatching MONDO:0030366 cardiomyopathy, dilated, 2E skos:exactMatch MEDGEN:1794180 semapv:UnspecifiedMatching MONDO:0030366 cardiomyopathy, dilated, 2E skos:exactMatch OMIM:619492 cardiomyopathy, dilated, 2e semapv:UnspecifiedMatching MONDO:0030366 cardiomyopathy, dilated, 2E skos:exactMatch UMLS:C5561970 semapv:UnspecifiedMatching MONDO:0030374 WHIM syndrome 2 skos:exactMatch DOID:0060973 WHIM syndrome 2 semapv:UnspecifiedMatching MONDO:0030374 WHIM syndrome 2 skos:exactMatch MEDGEN:1785594 semapv:UnspecifiedMatching MONDO:0030374 WHIM syndrome 2 skos:exactMatch OMIM:619407 whim syndrome 2 semapv:UnspecifiedMatching MONDO:0030374 WHIM syndrome 2 skos:exactMatch UMLS:C5543622 semapv:UnspecifiedMatching MONDO:0030375 neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 skos:exactMatch MEDGEN:1778117 semapv:UnspecifiedMatching MONDO:0030375 neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 skos:exactMatch OMIM:619418 neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 semapv:UnspecifiedMatching MONDO:0030375 neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 skos:exactMatch UMLS:C5543623 semapv:UnspecifiedMatching MONDO:0030376 Martsolf syndrome 2 skos:exactMatch MEDGEN:1779703 semapv:UnspecifiedMatching MONDO:0030376 Martsolf syndrome 2 skos:exactMatch OMIM:619420 martsolf syndrome 2 semapv:UnspecifiedMatching MONDO:0030376 Martsolf syndrome 2 skos:exactMatch UMLS:C5543626 semapv:UnspecifiedMatching MONDO:0030378 combined oxidative phosphorylation deficiency 53 skos:exactMatch DOID:0070426 combined oxidative phosphorylation deficiency 53 semapv:UnspecifiedMatching MONDO:0030378 combined oxidative phosphorylation deficiency 53 skos:exactMatch MEDGEN:1779083 semapv:UnspecifiedMatching MONDO:0030378 combined oxidative phosphorylation deficiency 53 skos:exactMatch OMIM:619423 combined oxidative phosphorylation deficiency 53 semapv:UnspecifiedMatching MONDO:0030378 combined oxidative phosphorylation deficiency 53 skos:exactMatch UMLS:C5543631 semapv:UnspecifiedMatching MONDO:0030397 portal hypertension, noncirrhotic, 2 skos:exactMatch MEDGEN:1794158 semapv:UnspecifiedMatching MONDO:0030397 portal hypertension, noncirrhotic, 2 skos:exactMatch OMIM:619463 portal hypertension, noncirrhotic, 2 semapv:UnspecifiedMatching MONDO:0030397 portal hypertension, noncirrhotic, 2 skos:exactMatch UMLS:C5561948 semapv:UnspecifiedMatching MONDO:0030399 visceral neuropathy, familial, 2, autosomal recessive skos:exactMatch MEDGEN:1794160 semapv:UnspecifiedMatching MONDO:0030399 visceral neuropathy, familial, 2, autosomal recessive skos:exactMatch OMIM:619465 visceral neuropathy, familial, 2, autosomal recessive semapv:UnspecifiedMatching MONDO:0030399 visceral neuropathy, familial, 2, autosomal recessive skos:exactMatch UMLS:C5561950 semapv:UnspecifiedMatching MONDO:0030423 congenital disorder of glycosylation, type 2v skos:exactMatch DOID:0051050 congenital disorder of glycosylation type IIv semapv:UnspecifiedMatching MONDO:0030423 congenital disorder of glycosylation, type 2v skos:exactMatch MEDGEN:1794181 semapv:UnspecifiedMatching MONDO:0030423 congenital disorder of glycosylation, type 2v skos:exactMatch OMIM:619493 congenital disorder of glycosylation, type 2v semapv:UnspecifiedMatching MONDO:0030423 congenital disorder of glycosylation, type 2v skos:exactMatch Orphanet:695783 EDEM3-CDG semapv:UnspecifiedMatching MONDO:0030423 congenital disorder of glycosylation, type 2v skos:exactMatch UMLS:C5561971 semapv:UnspecifiedMatching MONDO:0030428 immunodeficiency 85 and autoimmunity skos:exactMatch DOID:0061055 immunodeficiency 85 semapv:UnspecifiedMatching MONDO:0030428 immunodeficiency 85 and autoimmunity skos:exactMatch MEDGEN:1794186 semapv:UnspecifiedMatching MONDO:0030428 immunodeficiency 85 and autoimmunity skos:exactMatch OMIM:619510 immunodeficiency 85 and autoimmunity semapv:UnspecifiedMatching MONDO:0030428 immunodeficiency 85 and autoimmunity skos:exactMatch UMLS:C5561976 semapv:UnspecifiedMatching MONDO:0030430 spermatogenic failure 56 skos:exactMatch DOID:0112336 spermatogenic failure 56 semapv:UnspecifiedMatching MONDO:0030430 spermatogenic failure 56 skos:exactMatch MEDGEN:1794188 semapv:UnspecifiedMatching MONDO:0030430 spermatogenic failure 56 skos:exactMatch OMIM:619515 spermatogenic failure 56 semapv:UnspecifiedMatching MONDO:0030430 spermatogenic failure 56 skos:exactMatch UMLS:C5561978 semapv:UnspecifiedMatching MONDO:0030433 Charcot-Marie-Tooth disease, axonal, type 2FF skos:exactMatch MEDGEN:1794191 semapv:UnspecifiedMatching MONDO:0030433 Charcot-Marie-Tooth disease, axonal, type 2FF skos:exactMatch OMIM:619519 charcot-marie-tooth disease, axonal, type 2ff semapv:UnspecifiedMatching MONDO:0030433 Charcot-Marie-Tooth disease, axonal, type 2FF skos:exactMatch UMLS:C5561981 semapv:UnspecifiedMatching MONDO:0030434 epilepsy, idiopathic generalized, susceptibility to, 18 skos:exactMatch MEDGEN:1794193 semapv:UnspecifiedMatching MONDO:0030434 epilepsy, idiopathic generalized, susceptibility to, 18 skos:exactMatch OMIM:619521 epilepsy, idiopathic generalized, susceptibility to, 18 semapv:UnspecifiedMatching MONDO:0030434 epilepsy, idiopathic generalized, susceptibility to, 18 skos:exactMatch UMLS:C5561983 semapv:UnspecifiedMatching MONDO:0030436 anemia, sideroblastic, 5 skos:exactMatch DOID:0061007 sideroblastic anemia 5 semapv:UnspecifiedMatching MONDO:0030436 anemia, sideroblastic, 5 skos:exactMatch MEDGEN:1794195 semapv:UnspecifiedMatching MONDO:0030436 anemia, sideroblastic, 5 skos:exactMatch OMIM:619523 anemia, sideroblastic, 5 semapv:UnspecifiedMatching MONDO:0030436 anemia, sideroblastic, 5 skos:exactMatch UMLS:C5561985 semapv:UnspecifiedMatching MONDO:0030437 congenital disorder of glycosylation, type IIw skos:exactMatch DOID:0051051 congenital disorder of glycosylation type IIw semapv:UnspecifiedMatching MONDO:0030437 congenital disorder of glycosylation, type IIw skos:exactMatch MEDGEN:1794196 semapv:UnspecifiedMatching MONDO:0030437 congenital disorder of glycosylation, type IIw skos:exactMatch OMIM:619525 congenital disorder of glycosylation, type iiw semapv:UnspecifiedMatching MONDO:0030437 congenital disorder of glycosylation, type IIw skos:exactMatch UMLS:C5561986 semapv:UnspecifiedMatching MONDO:0030438 pontocerebellar hypoplasia, type 16 skos:exactMatch DOID:0112333 pontocerebellar hypoplasia type 16 semapv:UnspecifiedMatching MONDO:0030438 pontocerebellar hypoplasia, type 16 skos:exactMatch MEDGEN:1794197 semapv:UnspecifiedMatching MONDO:0030438 pontocerebellar hypoplasia, type 16 skos:exactMatch OMIM:619527 pontocerebellar hypoplasia, type 16 semapv:UnspecifiedMatching MONDO:0030438 pontocerebellar hypoplasia, type 16 skos:exactMatch UMLS:C5561987 semapv:UnspecifiedMatching MONDO:0030439 spermatogenic failure 57 skos:exactMatch DOID:0112338 spermatogenic failure 57 semapv:UnspecifiedMatching MONDO:0030439 spermatogenic failure 57 skos:exactMatch MEDGEN:1794198 semapv:UnspecifiedMatching MONDO:0030439 spermatogenic failure 57 skos:exactMatch OMIM:619528 spermatogenic failure 57 semapv:UnspecifiedMatching MONDO:0030439 spermatogenic failure 57 skos:exactMatch UMLS:C5561988 semapv:UnspecifiedMatching MONDO:0030440 cone-rod dystrophy 22 skos:exactMatch DOID:0081448 cone-rod dystrophy 22 semapv:UnspecifiedMatching MONDO:0030440 cone-rod dystrophy 22 skos:exactMatch MEDGEN:1794199 semapv:UnspecifiedMatching MONDO:0030440 cone-rod dystrophy 22 skos:exactMatch OMIM:619531 cone-rod dystrophy 22 semapv:UnspecifiedMatching MONDO:0030440 cone-rod dystrophy 22 skos:exactMatch UMLS:C5561989 semapv:UnspecifiedMatching MONDO:0030448 immunodeficiency 86 skos:exactMatch DOID:0061056 immunodeficiency 86 semapv:UnspecifiedMatching MONDO:0030448 immunodeficiency 86 skos:exactMatch MEDGEN:1794205 semapv:UnspecifiedMatching MONDO:0030448 immunodeficiency 86 skos:exactMatch OMIM:619549 immunodeficiency 86 semapv:UnspecifiedMatching MONDO:0030448 immunodeficiency 86 skos:exactMatch UMLS:C5561995 semapv:UnspecifiedMatching MONDO:0030449 hearing loss, autosomal recessive 118, with cochlear aplasia skos:exactMatch MEDGEN:1794206 semapv:UnspecifiedMatching MONDO:0030449 hearing loss, autosomal recessive 118, with cochlear aplasia skos:exactMatch OMIM:619553 deafness, autosomal recessive 118, with cochlear aplasia semapv:UnspecifiedMatching MONDO:0030449 hearing loss, autosomal recessive 118, with cochlear aplasia skos:exactMatch UMLS:C5561996 semapv:UnspecifiedMatching MONDO:0030453 developmental and epileptic encephalopathy 97 skos:exactMatch DOID:0070383 developmental and epileptic encephalopathy 97 semapv:UnspecifiedMatching MONDO:0030453 developmental and epileptic encephalopathy 97 skos:exactMatch MEDGEN:1794209 semapv:UnspecifiedMatching MONDO:0030453 developmental and epileptic encephalopathy 97 skos:exactMatch OMIM:619561 developmental and epileptic encephalopathy 97 semapv:UnspecifiedMatching MONDO:0030453 developmental and epileptic encephalopathy 97 skos:exactMatch UMLS:C5561999 semapv:UnspecifiedMatching MONDO:0030454 Joubert syndrome 39 skos:exactMatch MEDGEN:1794210 semapv:UnspecifiedMatching MONDO:0030454 Joubert syndrome 39 skos:exactMatch OMIM:619562 joubert syndrome 39 semapv:UnspecifiedMatching MONDO:0030454 Joubert syndrome 39 skos:exactMatch UMLS:C5562000 semapv:UnspecifiedMatching MONDO:0030455 dystonia 31 skos:exactMatch DOID:0060938 dystonia 31 semapv:UnspecifiedMatching MONDO:0030455 dystonia 31 skos:exactMatch MEDGEN:1794211 semapv:UnspecifiedMatching MONDO:0030455 dystonia 31 skos:exactMatch OMIM:619565 dystonia 31 semapv:UnspecifiedMatching MONDO:0030455 dystonia 31 skos:exactMatch UMLS:C5562001 semapv:UnspecifiedMatching MONDO:0030456 muscular dystrophy, limb-girdle, autosomal recessive 27 skos:exactMatch DOID:0061133 autosomal recessive limb-girdle muscular dystrophy type 27 semapv:UnspecifiedMatching MONDO:0030456 muscular dystrophy, limb-girdle, autosomal recessive 27 skos:exactMatch MEDGEN:1794212 semapv:UnspecifiedMatching MONDO:0030456 muscular dystrophy, limb-girdle, autosomal recessive 27 skos:exactMatch OMIM:619566 muscular dystrophy, limb-girdle, autosomal recessive 27 semapv:UnspecifiedMatching MONDO:0030456 muscular dystrophy, limb-girdle, autosomal recessive 27 skos:exactMatch UMLS:C5562002 semapv:UnspecifiedMatching MONDO:0030457 immunodeficiency 87 and autoimmunity skos:exactMatch DOID:0061057 immunodeficiency 87 semapv:UnspecifiedMatching MONDO:0030457 immunodeficiency 87 and autoimmunity skos:exactMatch MEDGEN:1794280 semapv:UnspecifiedMatching MONDO:0030457 immunodeficiency 87 and autoimmunity skos:exactMatch OMIM:619573 immunodeficiency 87 and autoimmunity semapv:UnspecifiedMatching MONDO:0030457 immunodeficiency 87 and autoimmunity skos:exactMatch UMLS:C5562070 semapv:UnspecifiedMatching MONDO:0030458 Charcot-Marie-Tooth disease, axonal, Type 2HH skos:exactMatch MEDGEN:1794213 semapv:UnspecifiedMatching MONDO:0030458 Charcot-Marie-Tooth disease, axonal, Type 2HH skos:exactMatch OMIM:619574 charcot-marie-tooth disease, axonal, type 2hh semapv:UnspecifiedMatching MONDO:0030458 Charcot-Marie-Tooth disease, axonal, Type 2HH skos:exactMatch UMLS:C5562003 semapv:UnspecifiedMatching MONDO:0030462 Joubert syndrome 40 skos:exactMatch MEDGEN:1794217 semapv:UnspecifiedMatching MONDO:0030462 Joubert syndrome 40 skos:exactMatch OMIM:619582 joubert syndrome 40 semapv:UnspecifiedMatching MONDO:0030462 Joubert syndrome 40 skos:exactMatch UMLS:C5562007 semapv:UnspecifiedMatching MONDO:0030463 spermatogenic failure 58 skos:exactMatch DOID:0112352 spermatogenic failure 58 semapv:UnspecifiedMatching MONDO:0030463 spermatogenic failure 58 skos:exactMatch MEDGEN:1794218 semapv:UnspecifiedMatching MONDO:0030463 spermatogenic failure 58 skos:exactMatch OMIM:619585 spermatogenic failure 58 semapv:UnspecifiedMatching MONDO:0030463 spermatogenic failure 58 skos:exactMatch UMLS:C5562008 semapv:UnspecifiedMatching MONDO:0030465 cataract 49 skos:exactMatch MEDGEN:1794220 semapv:UnspecifiedMatching MONDO:0030465 cataract 49 skos:exactMatch OMIM:619593 cataract 49 semapv:UnspecifiedMatching MONDO:0030465 cataract 49 skos:exactMatch UMLS:C5562010 semapv:UnspecifiedMatching MONDO:0030471 Galloway-Mowat syndrome 9 skos:exactMatch MEDGEN:1794226 semapv:UnspecifiedMatching MONDO:0030471 Galloway-Mowat syndrome 9 skos:exactMatch OMIM:619603 galloway-mowat syndrome 9 semapv:UnspecifiedMatching MONDO:0030471 Galloway-Mowat syndrome 9 skos:exactMatch UMLS:C5562016 semapv:UnspecifiedMatching MONDO:0030472 developmental and epileptic encephalopathy 98 skos:exactMatch DOID:0070384 developmental and epileptic encephalopathy 98 semapv:UnspecifiedMatching MONDO:0030472 developmental and epileptic encephalopathy 98 skos:exactMatch MEDGEN:1794227 semapv:UnspecifiedMatching MONDO:0030472 developmental and epileptic encephalopathy 98 skos:exactMatch OMIM:619605 developmental and epileptic encephalopathy 98 semapv:UnspecifiedMatching MONDO:0030472 developmental and epileptic encephalopathy 98 skos:exactMatch UMLS:C5562017 semapv:UnspecifiedMatching MONDO:0030473 developmental and epileptic encephalopathy 99 skos:exactMatch DOID:0070385 developmental and epileptic encephalopathy 99 semapv:UnspecifiedMatching MONDO:0030473 developmental and epileptic encephalopathy 99 skos:exactMatch MEDGEN:1794228 semapv:UnspecifiedMatching MONDO:0030473 developmental and epileptic encephalopathy 99 skos:exactMatch OMIM:619606 developmental and epileptic encephalopathy 99 semapv:UnspecifiedMatching MONDO:0030473 developmental and epileptic encephalopathy 99 skos:exactMatch UMLS:C5562018 semapv:UnspecifiedMatching MONDO:0030474 heterotaxy, visceral, 10, autosomal, with male infertility skos:exactMatch DOID:0051024 visceral heterotaxy 10 semapv:UnspecifiedMatching MONDO:0030474 heterotaxy, visceral, 10, autosomal, with male infertility skos:exactMatch MEDGEN:1794282 semapv:UnspecifiedMatching MONDO:0030474 heterotaxy, visceral, 10, autosomal, with male infertility skos:exactMatch OMIM:619607 heterotaxy, visceral, 10, autosomal, with male infertility semapv:UnspecifiedMatching MONDO:0030474 heterotaxy, visceral, 10, autosomal, with male infertility skos:exactMatch UMLS:C5562072 semapv:UnspecifiedMatching MONDO:0030475 heterotaxy, visceral, 11, autosomal, with male infertility skos:exactMatch DOID:0051025 visceral heterotaxy 11 semapv:UnspecifiedMatching MONDO:0030475 heterotaxy, visceral, 11, autosomal, with male infertility skos:exactMatch MEDGEN:1794229 semapv:UnspecifiedMatching MONDO:0030475 heterotaxy, visceral, 11, autosomal, with male infertility skos:exactMatch OMIM:619608 heterotaxy, visceral, 11, autosomal, with male infertility semapv:UnspecifiedMatching MONDO:0030475 heterotaxy, visceral, 11, autosomal, with male infertility skos:exactMatch UMLS:C5562019 semapv:UnspecifiedMatching MONDO:0030476 Galloway-Mowat syndrome 10 skos:exactMatch MEDGEN:1794230 semapv:UnspecifiedMatching MONDO:0030476 Galloway-Mowat syndrome 10 skos:exactMatch OMIM:619609 galloway-mowat syndrome 10 semapv:UnspecifiedMatching MONDO:0030476 Galloway-Mowat syndrome 10 skos:exactMatch UMLS:C5562020 semapv:UnspecifiedMatching MONDO:0030480 hearing loss, autosomal recessive 119 skos:exactMatch MEDGEN:1794233 semapv:UnspecifiedMatching MONDO:0030480 hearing loss, autosomal recessive 119 skos:exactMatch OMIM:619615 deafness, autosomal recessive 119 semapv:UnspecifiedMatching MONDO:0030480 hearing loss, autosomal recessive 119 skos:exactMatch UMLS:C5562023 semapv:UnspecifiedMatching MONDO:0030482 spastic paraplegia 84, autosomal recessive skos:exactMatch DOID:0112347 hereditary spastic paraplegia 84 semapv:UnspecifiedMatching MONDO:0030482 spastic paraplegia 84, autosomal recessive skos:exactMatch MEDGEN:1794235 semapv:UnspecifiedMatching MONDO:0030482 spastic paraplegia 84, autosomal recessive skos:exactMatch OMIM:619621 spastic paraplegia 84, autosomal recessive semapv:UnspecifiedMatching MONDO:0030482 spastic paraplegia 84, autosomal recessive skos:exactMatch Orphanet:631079 Autosomal recessive spastic paraplegia type 84 semapv:UnspecifiedMatching MONDO:0030482 spastic paraplegia 84, autosomal recessive skos:exactMatch UMLS:C5562025 semapv:UnspecifiedMatching MONDO:0030483 immunodeficiency 88 skos:exactMatch DOID:0061058 immunodeficiency 88 semapv:UnspecifiedMatching MONDO:0030483 immunodeficiency 88 skos:exactMatch MEDGEN:1794236 semapv:UnspecifiedMatching MONDO:0030483 immunodeficiency 88 skos:exactMatch OMIM:619630 immunodeficiency 88 semapv:UnspecifiedMatching MONDO:0030483 immunodeficiency 88 skos:exactMatch UMLS:C5562026 semapv:UnspecifiedMatching MONDO:0030484 immunodeficiency 89 and autoimmunity skos:exactMatch DOID:0061059 immunodeficiency 89 semapv:UnspecifiedMatching MONDO:0030484 immunodeficiency 89 and autoimmunity skos:exactMatch MEDGEN:1794237 semapv:UnspecifiedMatching MONDO:0030484 immunodeficiency 89 and autoimmunity skos:exactMatch OMIM:619632 immunodeficiency 89 and autoimmunity semapv:UnspecifiedMatching MONDO:0030484 immunodeficiency 89 and autoimmunity skos:exactMatch UMLS:C5562027 semapv:UnspecifiedMatching MONDO:0030486 dystonia 32 skos:exactMatch DOID:0060939 dystonia 32 semapv:UnspecifiedMatching MONDO:0030486 dystonia 32 skos:exactMatch MEDGEN:1794239 semapv:UnspecifiedMatching MONDO:0030486 dystonia 32 skos:exactMatch OMIM:619637 dystonia 32 semapv:UnspecifiedMatching MONDO:0030486 dystonia 32 skos:exactMatch UMLS:C5562029 semapv:UnspecifiedMatching MONDO:0030487 spondylometaphyseal dysplasia, pagnamenta type skos:exactMatch MEDGEN:1794240 semapv:UnspecifiedMatching MONDO:0030487 spondylometaphyseal dysplasia, pagnamenta type skos:exactMatch OMIM:619638 spondylometaphyseal dysplasia, pagnamenta type semapv:UnspecifiedMatching MONDO:0030487 spondylometaphyseal dysplasia, pagnamenta type skos:exactMatch UMLS:C5562030 semapv:UnspecifiedMatching MONDO:0030489 epidermolysis bullosa simplex 2A, generalized severe skos:exactMatch OMIM:619555 epidermolysis bullosa simplex 2a, generalized severe semapv:UnspecifiedMatching MONDO:0030490 oocyte maturation defect 11 skos:exactMatch MEDGEN:1794243 semapv:UnspecifiedMatching MONDO:0030490 oocyte maturation defect 11 skos:exactMatch OMIM:619643 oocyte/zygote/embryo maturation arrest 11 semapv:UnspecifiedMatching MONDO:0030490 oocyte maturation defect 11 skos:exactMatch UMLS:C5562033 semapv:UnspecifiedMatching MONDO:0030491 immunodeficiency 91 and hyperinflammation skos:exactMatch DOID:0061061 immunodeficiency 91 semapv:UnspecifiedMatching MONDO:0030491 immunodeficiency 91 and hyperinflammation skos:exactMatch MEDGEN:1794283 semapv:UnspecifiedMatching MONDO:0030491 immunodeficiency 91 and hyperinflammation skos:exactMatch OMIM:619644 immunodeficiency 91 and hyperinflammation semapv:UnspecifiedMatching MONDO:0030491 immunodeficiency 91 and hyperinflammation skos:exactMatch UMLS:C5562073 semapv:UnspecifiedMatching MONDO:0030492 spermatogenic failure 59 skos:exactMatch DOID:0112357 spermatogenic failure 59 semapv:UnspecifiedMatching MONDO:0030492 spermatogenic failure 59 skos:exactMatch MEDGEN:1794244 semapv:UnspecifiedMatching MONDO:0030492 spermatogenic failure 59 skos:exactMatch OMIM:619645 spermatogenic failure 59 semapv:UnspecifiedMatching MONDO:0030492 spermatogenic failure 59 skos:exactMatch UMLS:C5562034 semapv:UnspecifiedMatching MONDO:0030493 spermatogenic failure 60 skos:exactMatch DOID:0112355 spermatogenic failure 60 semapv:UnspecifiedMatching MONDO:0030493 spermatogenic failure 60 skos:exactMatch MEDGEN:1794245 semapv:UnspecifiedMatching MONDO:0030493 spermatogenic failure 60 skos:exactMatch OMIM:619646 spermatogenic failure 60 semapv:UnspecifiedMatching MONDO:0030493 spermatogenic failure 60 skos:exactMatch UMLS:C5562035 semapv:UnspecifiedMatching MONDO:0030498 immunodeficiency 92 skos:exactMatch DOID:0061062 immunodeficiency 92 semapv:UnspecifiedMatching MONDO:0030498 immunodeficiency 92 skos:exactMatch MEDGEN:1794249 semapv:UnspecifiedMatching MONDO:0030498 immunodeficiency 92 skos:exactMatch OMIM:619652 immunodeficiency 92 semapv:UnspecifiedMatching MONDO:0030498 immunodeficiency 92 skos:exactMatch Orphanet:697394 Combined immunodeficiency due to c-REL deficiency semapv:UnspecifiedMatching MONDO:0030498 immunodeficiency 92 skos:exactMatch UMLS:C5562039 semapv:UnspecifiedMatching MONDO:0030500 Loeys-Dietz syndrome 6 skos:exactMatch DOID:0060964 Loeys-Dietz syndrome 6 semapv:UnspecifiedMatching MONDO:0030500 Loeys-Dietz syndrome 6 skos:exactMatch MEDGEN:1794251 semapv:UnspecifiedMatching MONDO:0030500 Loeys-Dietz syndrome 6 skos:exactMatch OMIM:619656 loeys-dietz syndrome 6 semapv:UnspecifiedMatching MONDO:0030500 Loeys-Dietz syndrome 6 skos:exactMatch UMLS:C5562041 semapv:UnspecifiedMatching MONDO:0030502 tetrasomy skos:exactMatch MEDGEN:90710 semapv:UnspecifiedMatching MONDO:0030502 tetrasomy skos:exactMatch UMLS:C0333689 semapv:UnspecifiedMatching MONDO:0030502 tetrasomy skos:exactMatch mesh:D058670 semapv:UnspecifiedMatching MONDO:0030503 cholestasis, progressive familial intrahepatic, 7, with or without hearing loss skos:exactMatch MEDGEN:1794253 semapv:UnspecifiedMatching MONDO:0030503 cholestasis, progressive familial intrahepatic, 7, with or without hearing loss skos:exactMatch OMIM:619658 cholestasis, progressive familial intrahepatic, 7, with or without hearing loss semapv:UnspecifiedMatching MONDO:0030503 cholestasis, progressive familial intrahepatic, 7, with or without hearing loss skos:exactMatch UMLS:C5562043 semapv:UnspecifiedMatching MONDO:0030505 cholestasis, progressive familial intrahepatic, 8 skos:exactMatch MEDGEN:1794255 semapv:UnspecifiedMatching MONDO:0030505 cholestasis, progressive familial intrahepatic, 8 skos:exactMatch OMIM:619662 cholestasis, progressive familial intrahepatic, 8 semapv:UnspecifiedMatching MONDO:0030505 cholestasis, progressive familial intrahepatic, 8 skos:exactMatch UMLS:C5562045 semapv:UnspecifiedMatching MONDO:0030506 ovarian dysgenesis 9 skos:exactMatch DOID:0061013 ovarian dysgenesis 9 semapv:UnspecifiedMatching MONDO:0030506 ovarian dysgenesis 9 skos:exactMatch MEDGEN:1794256 semapv:UnspecifiedMatching MONDO:0030506 ovarian dysgenesis 9 skos:exactMatch OMIM:619665 ovarian dysgenesis 9 semapv:UnspecifiedMatching MONDO:0030506 ovarian dysgenesis 9 skos:exactMatch UMLS:C5562046 semapv:UnspecifiedMatching MONDO:0030507 spermatogenic failure 61 skos:exactMatch DOID:0112350 spermatogenic failure 61 semapv:UnspecifiedMatching MONDO:0030507 spermatogenic failure 61 skos:exactMatch MEDGEN:1794258 semapv:UnspecifiedMatching MONDO:0030507 spermatogenic failure 61 skos:exactMatch OMIM:619672 spermatogenic failure 61 semapv:UnspecifiedMatching MONDO:0030507 spermatogenic failure 61 skos:exactMatch UMLS:C5562048 semapv:UnspecifiedMatching MONDO:0030508 spermatogenic failure 62 skos:exactMatch DOID:0112351 spermatogenic failure 62 semapv:UnspecifiedMatching MONDO:0030508 spermatogenic failure 62 skos:exactMatch MEDGEN:1794259 semapv:UnspecifiedMatching MONDO:0030508 spermatogenic failure 62 skos:exactMatch OMIM:619673 spermatogenic failure 62 semapv:UnspecifiedMatching MONDO:0030508 spermatogenic failure 62 skos:exactMatch UMLS:C5562049 semapv:UnspecifiedMatching MONDO:0030512 spastic paraplegia 85, autosomal recessive skos:exactMatch DOID:0112345 hereditary spastic paraplegia 85 semapv:UnspecifiedMatching MONDO:0030512 spastic paraplegia 85, autosomal recessive skos:exactMatch MEDGEN:1794263 semapv:UnspecifiedMatching MONDO:0030512 spastic paraplegia 85, autosomal recessive skos:exactMatch OMIM:619686 spastic paraplegia 85, autosomal recessive semapv:UnspecifiedMatching MONDO:0030512 spastic paraplegia 85, autosomal recessive skos:exactMatch Orphanet:631082 Autosomal recessive spastic paraplegia type 85 semapv:UnspecifiedMatching MONDO:0030512 spastic paraplegia 85, autosomal recessive skos:exactMatch UMLS:C5562053 semapv:UnspecifiedMatching MONDO:0030513 dystonia 33 skos:exactMatch DOID:0060940 dystonia 33 semapv:UnspecifiedMatching MONDO:0030513 dystonia 33 skos:exactMatch MEDGEN:1794264 semapv:UnspecifiedMatching MONDO:0030513 dystonia 33 skos:exactMatch OMIM:619687 dystonia 33 semapv:UnspecifiedMatching MONDO:0030513 dystonia 33 skos:exactMatch UMLS:C5562054 semapv:UnspecifiedMatching MONDO:0030514 leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy skos:exactMatch DOID:0070397 hypomyelinating leukodystrophy 23 semapv:UnspecifiedMatching MONDO:0030514 leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy skos:exactMatch MEDGEN:1794284 semapv:UnspecifiedMatching MONDO:0030514 leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy skos:exactMatch OMIM:619688 leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy semapv:UnspecifiedMatching MONDO:0030514 leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy skos:exactMatch UMLS:C5562074 semapv:UnspecifiedMatching MONDO:0030515 spermatogenic failure 63 skos:exactMatch DOID:0112356 spermatogenic failure 63 semapv:UnspecifiedMatching MONDO:0030515 spermatogenic failure 63 skos:exactMatch MEDGEN:1794265 semapv:UnspecifiedMatching MONDO:0030515 spermatogenic failure 63 skos:exactMatch OMIM:619689 spermatogenic failure 63 semapv:UnspecifiedMatching MONDO:0030515 spermatogenic failure 63 skos:exactMatch UMLS:C5562055 semapv:UnspecifiedMatching MONDO:0030517 trichothiodystrophy 8, nonphotosensitive skos:exactMatch DOID:0061023 nonphotosensitive trichothiodystrophy 8 semapv:UnspecifiedMatching MONDO:0030517 trichothiodystrophy 8, nonphotosensitive skos:exactMatch MEDGEN:1794267 semapv:UnspecifiedMatching MONDO:0030517 trichothiodystrophy 8, nonphotosensitive skos:exactMatch OMIM:619691 trichothiodystrophy 8, nonphotosensitive semapv:UnspecifiedMatching MONDO:0030517 trichothiodystrophy 8, nonphotosensitive skos:exactMatch UMLS:C5562057 semapv:UnspecifiedMatching MONDO:0030518 trichothiodystrophy 9, nonphotosensitive skos:exactMatch DOID:0061024 nonphotosensitive trichothiodystrophy 9 semapv:UnspecifiedMatching MONDO:0030518 trichothiodystrophy 9, nonphotosensitive skos:exactMatch MEDGEN:1794268 semapv:UnspecifiedMatching MONDO:0030518 trichothiodystrophy 9, nonphotosensitive skos:exactMatch OMIM:619692 trichothiodystrophy 9, nonphotosensitive semapv:UnspecifiedMatching MONDO:0030518 trichothiodystrophy 9, nonphotosensitive skos:exactMatch UMLS:C5562058 semapv:UnspecifiedMatching MONDO:0030519 agammaglobulinemia 9, autosomal recessive skos:exactMatch DOID:0081141 agammaglobulinemia 9 semapv:UnspecifiedMatching MONDO:0030519 agammaglobulinemia 9, autosomal recessive skos:exactMatch MEDGEN:1794269 semapv:UnspecifiedMatching MONDO:0030519 agammaglobulinemia 9, autosomal recessive skos:exactMatch OMIM:619693 agammaglobulinemia 9, autosomal recessive semapv:UnspecifiedMatching MONDO:0030519 agammaglobulinemia 9, autosomal recessive skos:exactMatch Orphanet:693627 Agammaglobulinemia-skin involvement-failure to thrive syndrome semapv:UnspecifiedMatching MONDO:0030519 agammaglobulinemia 9, autosomal recessive skos:exactMatch UMLS:C5562059 semapv:UnspecifiedMatching MONDO:0030522 spermatogenic failure 64 skos:exactMatch DOID:0112353 spermatogenic failure 64 semapv:UnspecifiedMatching MONDO:0030522 spermatogenic failure 64 skos:exactMatch MEDGEN:1794272 semapv:UnspecifiedMatching MONDO:0030522 spermatogenic failure 64 skos:exactMatch OMIM:619696 spermatogenic failure 64 semapv:UnspecifiedMatching MONDO:0030522 spermatogenic failure 64 skos:exactMatch UMLS:C5562062 semapv:UnspecifiedMatching MONDO:0030523 oocyte maturation defect 12 skos:exactMatch MEDGEN:1794273 semapv:UnspecifiedMatching MONDO:0030523 oocyte maturation defect 12 skos:exactMatch OMIM:619697 oocyte/zygote/embryo maturation arrest 12 semapv:UnspecifiedMatching MONDO:0030523 oocyte maturation defect 12 skos:exactMatch UMLS:C5562063 semapv:UnspecifiedMatching MONDO:0030524 mucopolysaccharidosis, type 10 skos:exactMatch DOID:0061128 mucopolysaccharidosis X semapv:UnspecifiedMatching MONDO:0030524 mucopolysaccharidosis, type 10 skos:exactMatch MEDGEN:1794274 semapv:UnspecifiedMatching MONDO:0030524 mucopolysaccharidosis, type 10 skos:exactMatch OMIM:619698 mucopolysaccharidosis, type 10 semapv:UnspecifiedMatching MONDO:0030524 mucopolysaccharidosis, type 10 skos:exactMatch Orphanet:662216 Mucopolysaccharidosis type 10 semapv:UnspecifiedMatching MONDO:0030524 mucopolysaccharidosis, type 10 skos:exactMatch UMLS:C5562064 semapv:UnspecifiedMatching MONDO:0030525 epidermolysis bullosa simplex 2B, generalized intermediate skos:exactMatch MEDGEN:1794219 semapv:UnspecifiedMatching MONDO:0030525 epidermolysis bullosa simplex 2B, generalized intermediate skos:exactMatch OMIM:619588 epidermolysis bullosa simplex 2b, generalized intermediate semapv:UnspecifiedMatching MONDO:0030525 epidermolysis bullosa simplex 2B, generalized intermediate skos:exactMatch UMLS:C5562009 semapv:UnspecifiedMatching MONDO:0030527 epidermolysis bullosa simplex 2C, localized skos:exactMatch MEDGEN:1794221 semapv:UnspecifiedMatching MONDO:0030527 epidermolysis bullosa simplex 2C, localized skos:exactMatch OMIM:619594 epidermolysis bullosa simplex 2c, localized semapv:UnspecifiedMatching MONDO:0030527 epidermolysis bullosa simplex 2C, localized skos:exactMatch UMLS:C5562011 semapv:UnspecifiedMatching MONDO:0030528 immunodeficiency 93 and hypertrophic cardiomyopathy skos:exactMatch DOID:0061063 immunodeficiency 93 semapv:UnspecifiedMatching MONDO:0030528 immunodeficiency 93 and hypertrophic cardiomyopathy skos:exactMatch MEDGEN:1804175 semapv:UnspecifiedMatching MONDO:0030528 immunodeficiency 93 and hypertrophic cardiomyopathy skos:exactMatch OMIM:619705 immunodeficiency 93 and hypertrophic cardiomyopathy semapv:UnspecifiedMatching MONDO:0030528 immunodeficiency 93 and hypertrophic cardiomyopathy skos:exactMatch Orphanet:693647 Agammaglobulinemia-early-onset hypertrophic cardiomyopathy-neutropenia syndrome semapv:UnspecifiedMatching MONDO:0030528 immunodeficiency 93 and hypertrophic cardiomyopathy skos:exactMatch UMLS:C5676899 semapv:UnspecifiedMatching MONDO:0030529 agammaglobulinemia 10, autosomal dominant skos:exactMatch DOID:0081142 agammaglobulinemia 10 semapv:UnspecifiedMatching MONDO:0030529 agammaglobulinemia 10, autosomal dominant skos:exactMatch MEDGEN:1806624 semapv:UnspecifiedMatching MONDO:0030529 agammaglobulinemia 10, autosomal dominant skos:exactMatch OMIM:619707 agammaglobulinemia 10, autosomal dominant semapv:UnspecifiedMatching MONDO:0030529 agammaglobulinemia 10, autosomal dominant skos:exactMatch UMLS:C5676900 semapv:UnspecifiedMatching MONDO:0030531 spermatogenic failure 65 skos:exactMatch DOID:0112354 spermatogenic failure 65 semapv:UnspecifiedMatching MONDO:0030531 spermatogenic failure 65 skos:exactMatch MEDGEN:1794277 semapv:UnspecifiedMatching MONDO:0030531 spermatogenic failure 65 skos:exactMatch OMIM:619712 spermatogenic failure 65 semapv:UnspecifiedMatching MONDO:0030531 spermatogenic failure 65 skos:exactMatch UMLS:C5562067 semapv:UnspecifiedMatching MONDO:0030533 intellectual developmental disorder, autosomal recessive 73 skos:exactMatch DOID:0081233 autosomal recessive intellectual developmental disorder 73 semapv:UnspecifiedMatching MONDO:0030533 intellectual developmental disorder, autosomal recessive 73 skos:exactMatch MEDGEN:1802013 semapv:UnspecifiedMatching MONDO:0030533 intellectual developmental disorder, autosomal recessive 73 skos:exactMatch OMIM:619717 intellectual developmental disorder, autosomal recessive 73 semapv:UnspecifiedMatching MONDO:0030533 intellectual developmental disorder, autosomal recessive 73 skos:exactMatch UMLS:C5676902 semapv:UnspecifiedMatching MONDO:0030534 hypogonadotropic hypogonadism 26 with or without anosmia skos:exactMatch MEDGEN:1811919 semapv:UnspecifiedMatching MONDO:0030534 hypogonadotropic hypogonadism 26 with or without anosmia skos:exactMatch OMIM:619718 hypogonadotropic hypogonadism 26 with or without anosmia semapv:UnspecifiedMatching MONDO:0030534 hypogonadotropic hypogonadism 26 with or without anosmia skos:exactMatch UMLS:C5676903 semapv:UnspecifiedMatching MONDO:0030535 epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive skos:exactMatch MEDGEN:1794224 semapv:UnspecifiedMatching MONDO:0030535 epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive skos:exactMatch OMIM:619599 epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive semapv:UnspecifiedMatching MONDO:0030535 epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive skos:exactMatch UMLS:C5562014 semapv:UnspecifiedMatching MONDO:0030537 central hypoventilation syndrome, congenital, 2, and autonomic dysfunction skos:exactMatch MEDGEN:1794173 semapv:UnspecifiedMatching MONDO:0030537 central hypoventilation syndrome, congenital, 2, and autonomic dysfunction skos:exactMatch OMIM:619482 central hypoventilation syndrome, congenital, 2, and autonomic dysfunction semapv:UnspecifiedMatching MONDO:0030537 central hypoventilation syndrome, congenital, 2, and autonomic dysfunction skos:exactMatch UMLS:C5561963 semapv:UnspecifiedMatching MONDO:0030538 dystonia 34, myoclonic skos:exactMatch DOID:0060957 myoclonic dystonia 34 semapv:UnspecifiedMatching MONDO:0030538 dystonia 34, myoclonic skos:exactMatch MEDGEN:1805016 semapv:UnspecifiedMatching MONDO:0030538 dystonia 34, myoclonic skos:exactMatch OMIM:619724 dystonia 34, myoclonic semapv:UnspecifiedMatching MONDO:0030538 dystonia 34, myoclonic skos:exactMatch UMLS:C5676907 semapv:UnspecifiedMatching MONDO:0030539 central hypoventilation syndrome, congenital, 3 skos:exactMatch MEDGEN:1794174 semapv:UnspecifiedMatching MONDO:0030539 central hypoventilation syndrome, congenital, 3 skos:exactMatch OMIM:619483 central hypoventilation syndrome, congenital, 3 semapv:UnspecifiedMatching MONDO:0030539 central hypoventilation syndrome, congenital, 3 skos:exactMatch UMLS:C5561964 semapv:UnspecifiedMatching MONDO:0030543 combined oxidative phosphorylation deficiency 54 skos:exactMatch DOID:0070427 combined oxidative phosphorylation deficiency 54 semapv:UnspecifiedMatching MONDO:0030543 combined oxidative phosphorylation deficiency 54 skos:exactMatch MEDGEN:1812715 semapv:UnspecifiedMatching MONDO:0030543 combined oxidative phosphorylation deficiency 54 skos:exactMatch OMIM:619737 combined oxidative phosphorylation deficiency 54 semapv:UnspecifiedMatching MONDO:0030543 combined oxidative phosphorylation deficiency 54 skos:exactMatch UMLS:C5676912 semapv:UnspecifiedMatching MONDO:0030549 hearing loss, autosomal dominant 81 skos:exactMatch DOID:0070608 autosomal dominant nonsyndromic deafness 81 semapv:UnspecifiedMatching MONDO:0030549 hearing loss, autosomal dominant 81 skos:exactMatch MEDGEN:1794182 semapv:UnspecifiedMatching MONDO:0030549 hearing loss, autosomal dominant 81 skos:exactMatch OMIM:619500 deafness, autosomal dominant 81 semapv:UnspecifiedMatching MONDO:0030549 hearing loss, autosomal dominant 81 skos:exactMatch UMLS:C5561972 semapv:UnspecifiedMatching MONDO:0030553 acromesomelic dysplasia 4 skos:exactMatch DOID:0081238 acromesomelic dysplasia 4 semapv:UnspecifiedMatching MONDO:0030553 acromesomelic dysplasia 4 skos:exactMatch MEDGEN:1794238 semapv:UnspecifiedMatching MONDO:0030553 acromesomelic dysplasia 4 skos:exactMatch OMIM:619636 acromesomelic dysplasia 4 semapv:UnspecifiedMatching MONDO:0030553 acromesomelic dysplasia 4 skos:exactMatch UMLS:C5562028 semapv:UnspecifiedMatching MONDO:0030602 Klebsiella pneumonia skos:exactMatch DOID:13272 Klebsiella pneumonia semapv:UnspecifiedMatching MONDO:0030602 Klebsiella pneumonia skos:exactMatch ICD10CM:J15.0 Pneumonia due to Klebsiella pneumoniae semapv:UnspecifiedMatching MONDO:0030602 Klebsiella pneumonia skos:exactMatch MEDGEN:636012 semapv:UnspecifiedMatching MONDO:0030602 Klebsiella pneumonia skos:exactMatch SCTID:64479007 semapv:UnspecifiedMatching MONDO:0030602 Klebsiella pneumonia skos:exactMatch UMLS:C0519030 semapv:UnspecifiedMatching MONDO:0030603 Klebsiella infectious disease skos:exactMatch SCTID:721756002 semapv:UnspecifiedMatching MONDO:0030603 Klebsiella infectious disease skos:exactMatch mesh:D007710 semapv:UnspecifiedMatching MONDO:0030604 cystic partially differentiated nephroblastoma skos:exactMatch DOID:7571 malignant cystic nephroma semapv:UnspecifiedMatching MONDO:0030604 cystic partially differentiated nephroblastoma skos:exactMatch MEDGEN:220423 semapv:UnspecifiedMatching MONDO:0030604 cystic partially differentiated nephroblastoma skos:exactMatch NCIT:C6897 Cystic Partially Differentiated Kidney Nephroblastoma semapv:UnspecifiedMatching MONDO:0030604 cystic partially differentiated nephroblastoma skos:exactMatch UMLS:C1266139 semapv:UnspecifiedMatching MONDO:0030606 Bryant-Li-Bhoj neurodevelopmental syndrome 1 skos:exactMatch DOID:0051011 Bryant-Li-Bhoj neurodevelopmental syndrome 1 semapv:UnspecifiedMatching MONDO:0030606 Bryant-Li-Bhoj neurodevelopmental syndrome 1 skos:exactMatch MEDGEN:1801103 semapv:UnspecifiedMatching MONDO:0030606 Bryant-Li-Bhoj neurodevelopmental syndrome 1 skos:exactMatch OMIM:619720 bryant-li-bhoj neurodevelopmental syndrome 1 semapv:UnspecifiedMatching MONDO:0030606 Bryant-Li-Bhoj neurodevelopmental syndrome 1 skos:exactMatch UMLS:C5676905 semapv:UnspecifiedMatching MONDO:0030607 Bryant-Li-Bhoj neurodevelopmental syndrome 2 skos:exactMatch DOID:0051012 Bryant-Li-Bhoj neurodevelopmental syndrome 2 semapv:UnspecifiedMatching MONDO:0030607 Bryant-Li-Bhoj neurodevelopmental syndrome 2 skos:exactMatch MEDGEN:1811435 semapv:UnspecifiedMatching MONDO:0030607 Bryant-Li-Bhoj neurodevelopmental syndrome 2 skos:exactMatch OMIM:619721 bryant-li-bhoj neurodevelopmental syndrome 2 semapv:UnspecifiedMatching MONDO:0030607 Bryant-Li-Bhoj neurodevelopmental syndrome 2 skos:exactMatch UMLS:C5676906 semapv:UnspecifiedMatching MONDO:0030608 interstitial lung disease 1 skos:exactMatch DOID:0060941 interstitial lung disease 1 semapv:UnspecifiedMatching MONDO:0030608 interstitial lung disease 1 skos:exactMatch MEDGEN:1794231 semapv:UnspecifiedMatching MONDO:0030608 interstitial lung disease 1 skos:exactMatch OMIM:619611 interstitial lung disease 1 semapv:UnspecifiedMatching MONDO:0030608 interstitial lung disease 1 skos:exactMatch UMLS:C5562021 semapv:UnspecifiedMatching MONDO:0030619 retinitis pigmentosa 92 skos:exactMatch DOID:0061107 retinitis pigmentosa 92 semapv:UnspecifiedMatching MONDO:0030619 retinitis pigmentosa 92 skos:exactMatch MEDGEN:1794232 semapv:UnspecifiedMatching MONDO:0030619 retinitis pigmentosa 92 skos:exactMatch OMIM:619614 retinitis pigmentosa 92 semapv:UnspecifiedMatching MONDO:0030619 retinitis pigmentosa 92 skos:exactMatch UMLS:C5562022 semapv:UnspecifiedMatching MONDO:0030625 dyskinesia with orofacial involvement, autosomal recessive skos:exactMatch MEDGEN:1794246 semapv:UnspecifiedMatching MONDO:0030625 dyskinesia with orofacial involvement, autosomal recessive skos:exactMatch OMIM:619647 dyskinesia with orofacial involvement, autosomal recessive semapv:UnspecifiedMatching MONDO:0030625 dyskinesia with orofacial involvement, autosomal recessive skos:exactMatch UMLS:C5562036 semapv:UnspecifiedMatching MONDO:0030634 leukoencephalopathy, hereditary diffuse, with spheroids 2 skos:exactMatch MEDGEN:1794254 semapv:UnspecifiedMatching MONDO:0030634 leukoencephalopathy, hereditary diffuse, with spheroids 2 skos:exactMatch OMIM:619661 leukoencephalopathy, hereditary diffuse, with spheroids 2 semapv:UnspecifiedMatching MONDO:0030634 leukoencephalopathy, hereditary diffuse, with spheroids 2 skos:exactMatch UMLS:C5562044 semapv:UnspecifiedMatching MONDO:0030639 Teebi hypertelorism syndrome skos:exactMatch DOID:0081073 Teebi hypertelorism syndrome semapv:UnspecifiedMatching MONDO:0030639 Teebi hypertelorism syndrome skos:exactMatch MEDGEN:208673 semapv:UnspecifiedMatching MONDO:0030639 Teebi hypertelorism syndrome skos:exactMatch OMIMPS:145420 Teebi hypertelorism syndrome semapv:UnspecifiedMatching MONDO:0030639 Teebi hypertelorism syndrome skos:exactMatch UMLS:C0796179 semapv:UnspecifiedMatching MONDO:0030669 gastrointestinal defects and immunodeficiency syndrome 2 skos:exactMatch MEDGEN:1811526 semapv:UnspecifiedMatching MONDO:0030669 gastrointestinal defects and immunodeficiency syndrome 2 skos:exactMatch OMIM:619708 gastrointestinal defects and immunodeficiency syndrome 2 semapv:UnspecifiedMatching MONDO:0030669 gastrointestinal defects and immunodeficiency syndrome 2 skos:exactMatch UMLS:C5676901 semapv:UnspecifiedMatching MONDO:0030673 spastic paraplegia 86, autosomal recessive skos:exactMatch DOID:0112342 hereditary spastic paraplegia 86 semapv:UnspecifiedMatching MONDO:0030673 spastic paraplegia 86, autosomal recessive skos:exactMatch MEDGEN:1801286 semapv:UnspecifiedMatching MONDO:0030673 spastic paraplegia 86, autosomal recessive skos:exactMatch OMIM:619735 spastic paraplegia 86, autosomal recessive semapv:UnspecifiedMatching MONDO:0030673 spastic paraplegia 86, autosomal recessive skos:exactMatch Orphanet:631085 Autosomal recessive spastic paraplegia type 86 semapv:UnspecifiedMatching MONDO:0030673 spastic paraplegia 86, autosomal recessive skos:exactMatch UMLS:C5676910 semapv:UnspecifiedMatching MONDO:0030674 Teebi hypertelorism syndrome 2 skos:exactMatch DOID:0081074 Teebi hypertelorism syndrome 2 semapv:UnspecifiedMatching MONDO:0030674 Teebi hypertelorism syndrome 2 skos:exactMatch MEDGEN:1809276 semapv:UnspecifiedMatching MONDO:0030674 Teebi hypertelorism syndrome 2 skos:exactMatch OMIM:619736 teebi hypertelorism syndrome 2 semapv:UnspecifiedMatching MONDO:0030674 Teebi hypertelorism syndrome 2 skos:exactMatch UMLS:C5676911 semapv:UnspecifiedMatching MONDO:0030676 parkinsonism-dystonia 3, childhood-onset skos:exactMatch MEDGEN:1808365 semapv:UnspecifiedMatching MONDO:0030676 parkinsonism-dystonia 3, childhood-onset skos:exactMatch OMIM:619738 parkinsonism-dystonia 3, childhood-onset semapv:UnspecifiedMatching MONDO:0030676 parkinsonism-dystonia 3, childhood-onset skos:exactMatch UMLS:C5676913 semapv:UnspecifiedMatching MONDO:0030677 Charcot-Marie-Tooth disease, demyelinating, IIA 1I skos:exactMatch MEDGEN:1811493 semapv:UnspecifiedMatching MONDO:0030677 Charcot-Marie-Tooth disease, demyelinating, IIA 1I skos:exactMatch OMIM:619742 charcot-marie-tooth disease, demyelinating, type 1i semapv:UnspecifiedMatching MONDO:0030677 Charcot-Marie-Tooth disease, demyelinating, IIA 1I skos:exactMatch UMLS:C5676914 semapv:UnspecifiedMatching MONDO:0030679 Noonan syndrome 14 skos:exactMatch MEDGEN:1807988 semapv:UnspecifiedMatching MONDO:0030679 Noonan syndrome 14 skos:exactMatch OMIM:619745 noonan syndrome 14 semapv:UnspecifiedMatching MONDO:0030679 Noonan syndrome 14 skos:exactMatch UMLS:C5676916 semapv:UnspecifiedMatching MONDO:0030680 cardiomyopathy, dilated, 2F skos:exactMatch DOID:0081162 dilated cardiomyopathy 2F semapv:UnspecifiedMatching MONDO:0030680 cardiomyopathy, dilated, 2F skos:exactMatch MEDGEN:1802616 semapv:UnspecifiedMatching MONDO:0030680 cardiomyopathy, dilated, 2F skos:exactMatch OMIM:619747 cardiomyopathy, dilated, 2f semapv:UnspecifiedMatching MONDO:0030680 cardiomyopathy, dilated, 2F skos:exactMatch UMLS:C5676917 semapv:UnspecifiedMatching MONDO:0030681 immunodeficiency 94 with autoinflammation and dysmorphic facies skos:exactMatch DOID:0061064 immunodeficiency 94 semapv:UnspecifiedMatching MONDO:0030681 immunodeficiency 94 with autoinflammation and dysmorphic facies skos:exactMatch MEDGEN:1802872 semapv:UnspecifiedMatching MONDO:0030681 immunodeficiency 94 with autoinflammation and dysmorphic facies skos:exactMatch OMIM:619750 immunodeficiency 94 with autoinflammation and dysmorphic facies semapv:UnspecifiedMatching MONDO:0030681 immunodeficiency 94 with autoinflammation and dysmorphic facies skos:exactMatch UMLS:C5676918 semapv:UnspecifiedMatching MONDO:0030684 hypogonadotropic hypogonadism 27 without anosmia skos:exactMatch MEDGEN:1810165 semapv:UnspecifiedMatching MONDO:0030684 hypogonadotropic hypogonadism 27 without anosmia skos:exactMatch OMIM:619755 hypogonadotropic hypogonadism 27 without anosmia semapv:UnspecifiedMatching MONDO:0030684 hypogonadotropic hypogonadism 27 without anosmia skos:exactMatch UMLS:C5676921 semapv:UnspecifiedMatching MONDO:0030689 Charcot-Marie-Tooth disease, demyelinating, IIA 1H skos:exactMatch MEDGEN:1804752 semapv:UnspecifiedMatching MONDO:0030689 Charcot-Marie-Tooth disease, demyelinating, IIA 1H skos:exactMatch OMIM:619764 charcot-marie-tooth disease, demyelinating, type 1h semapv:UnspecifiedMatching MONDO:0030689 Charcot-Marie-Tooth disease, demyelinating, IIA 1H skos:exactMatch UMLS:C5676926 semapv:UnspecifiedMatching MONDO:0030690 pulmonary fibrosis and/or bone marrow failure, telomere-related, 6 skos:exactMatch MEDGEN:1805650 semapv:UnspecifiedMatching MONDO:0030690 pulmonary fibrosis and/or bone marrow failure, telomere-related, 6 skos:exactMatch OMIM:619767 pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 6 semapv:UnspecifiedMatching MONDO:0030690 pulmonary fibrosis and/or bone marrow failure, telomere-related, 6 skos:exactMatch UMLS:C5676927 semapv:UnspecifiedMatching MONDO:0030692 immunodeficiency 95 skos:exactMatch DOID:0061065 immunodeficiency 95 semapv:UnspecifiedMatching MONDO:0030692 immunodeficiency 95 skos:exactMatch MEDGEN:1802205 semapv:UnspecifiedMatching MONDO:0030692 immunodeficiency 95 skos:exactMatch OMIM:619773 immunodeficiency 95 semapv:UnspecifiedMatching MONDO:0030692 immunodeficiency 95 skos:exactMatch UMLS:C5676929 semapv:UnspecifiedMatching MONDO:0030693 immunodeficiency 96 skos:exactMatch DOID:0061066 immunodeficiency 96 semapv:UnspecifiedMatching MONDO:0030693 immunodeficiency 96 skos:exactMatch MEDGEN:1810465 semapv:UnspecifiedMatching MONDO:0030693 immunodeficiency 96 skos:exactMatch OMIM:619774 immunodeficiency 96 semapv:UnspecifiedMatching MONDO:0030693 immunodeficiency 96 skos:exactMatch UMLS:C5676930 semapv:UnspecifiedMatching MONDO:0030695 developmental and epileptic encephalopathy 100 skos:exactMatch DOID:0070386 developmental and epileptic encephalopathy 100 semapv:UnspecifiedMatching MONDO:0030695 developmental and epileptic encephalopathy 100 skos:exactMatch MEDGEN:1809351 semapv:UnspecifiedMatching MONDO:0030695 developmental and epileptic encephalopathy 100 skos:exactMatch OMIM:619777 developmental and epileptic encephalopathy 100 semapv:UnspecifiedMatching MONDO:0030695 developmental and epileptic encephalopathy 100 skos:exactMatch UMLS:C5676932 semapv:UnspecifiedMatching MONDO:0030696 mitochondrial DNA depletion syndrome 20 (mngie type) skos:exactMatch DOID:0070451 mitochondrial DNA depletion syndrome 20 semapv:UnspecifiedMatching MONDO:0030696 mitochondrial DNA depletion syndrome 20 (mngie type) skos:exactMatch MEDGEN:1804209 semapv:UnspecifiedMatching MONDO:0030696 mitochondrial DNA depletion syndrome 20 (mngie type) skos:exactMatch OMIM:619780 mitochondrial DNA depletion syndrome 20 (mngie type) semapv:UnspecifiedMatching MONDO:0030696 mitochondrial DNA depletion syndrome 20 (mngie type) skos:exactMatch UMLS:C5676934 semapv:UnspecifiedMatching MONDO:0030697 myopia 28, autosomal recessive skos:exactMatch MEDGEN:1806812 semapv:UnspecifiedMatching MONDO:0030697 myopia 28, autosomal recessive skos:exactMatch OMIM:619781 myopia 28, autosomal recessive semapv:UnspecifiedMatching MONDO:0030697 myopia 28, autosomal recessive skos:exactMatch UMLS:C5676935 semapv:UnspecifiedMatching MONDO:0030700 autoimmune glomerulonephritis skos:exactMatch DOID:0040094 autoimmune glomerulonephritis semapv:UnspecifiedMatching MONDO:0030700 autoimmune glomerulonephritis skos:exactMatch MEDGEN:480533 semapv:UnspecifiedMatching MONDO:0030700 autoimmune glomerulonephritis skos:exactMatch UMLS:C3278903 semapv:UnspecifiedMatching MONDO:0030701 autoimmune cardiomyopathy skos:exactMatch DOID:0040095 autoimmune cardiomyopathy semapv:UnspecifiedMatching MONDO:0030702 autoimmune atherosclerosis skos:exactMatch DOID:0040096 autoimmune atherosclerosis semapv:UnspecifiedMatching MONDO:0030703 autoimmune vasculitis skos:exactMatch DOID:0040097 autoimmune vasculitis semapv:UnspecifiedMatching MONDO:0030703 autoimmune vasculitis skos:exactMatch MEDGEN:730236 semapv:UnspecifiedMatching MONDO:0030703 autoimmune vasculitis skos:exactMatch SCTID:427213005 semapv:UnspecifiedMatching MONDO:0030703 autoimmune vasculitis skos:exactMatch UMLS:C1328843 semapv:UnspecifiedMatching MONDO:0030705 Trichomonas prostatitis skos:exactMatch ICD10CM:A59.02 Trichomonal prostatitis semapv:UnspecifiedMatching MONDO:0030705 Trichomonas prostatitis skos:exactMatch MEDGEN:102261 semapv:UnspecifiedMatching MONDO:0030705 Trichomonas prostatitis skos:exactMatch NCIT:C35176 Trichomonas Prostatitis semapv:UnspecifiedMatching MONDO:0030705 Trichomonas prostatitis skos:exactMatch SCTID:71590000 semapv:UnspecifiedMatching MONDO:0030705 Trichomonas prostatitis skos:exactMatch UMLS:C0153315 semapv:UnspecifiedMatching MONDO:0030706 Trichomonas cystitis skos:exactMatch MEDGEN:87425 semapv:UnspecifiedMatching MONDO:0030706 Trichomonas cystitis skos:exactMatch NCIT:C35405 Trichomonas Cystitis semapv:UnspecifiedMatching MONDO:0030706 Trichomonas cystitis skos:exactMatch SCTID:197850006 semapv:UnspecifiedMatching MONDO:0030706 Trichomonas cystitis skos:exactMatch UMLS:C0341733 semapv:UnspecifiedMatching MONDO:0030707 Trichomonas balanoposthitis skos:exactMatch MEDGEN:83327 semapv:UnspecifiedMatching MONDO:0030707 Trichomonas balanoposthitis skos:exactMatch NCIT:C35406 Trichomonas Balanoposthitis semapv:UnspecifiedMatching MONDO:0030707 Trichomonas balanoposthitis skos:exactMatch UMLS:C0341769 semapv:UnspecifiedMatching MONDO:0030708 Trichomonas cervicitis skos:exactMatch MEDGEN:149274 semapv:UnspecifiedMatching MONDO:0030708 Trichomonas cervicitis skos:exactMatch NCIT:C35588 Trichomonas Cervicitis semapv:UnspecifiedMatching MONDO:0030708 Trichomonas cervicitis skos:exactMatch UMLS:C0742232 semapv:UnspecifiedMatching MONDO:0030711 Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive skos:exactMatch DOID:0051001 congenital dyserythropoietic anemia type IIIb semapv:UnspecifiedMatching MONDO:0030711 Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive skos:exactMatch MEDGEN:1800829 semapv:UnspecifiedMatching MONDO:0030711 Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive skos:exactMatch OMIM:619789 anemia, congenital dyserythropoietic, type iiib, autosomal recessive semapv:UnspecifiedMatching MONDO:0030711 Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive skos:exactMatch UMLS:C5676940 semapv:UnspecifiedMatching MONDO:0030712 oculopharyngodistal myopathy 4 skos:exactMatch DOID:0081300 oculopharyngodistal myopathy 4 semapv:UnspecifiedMatching MONDO:0030712 oculopharyngodistal myopathy 4 skos:exactMatch MEDGEN:1809981 semapv:UnspecifiedMatching MONDO:0030712 oculopharyngodistal myopathy 4 skos:exactMatch OMIM:619790 oculopharyngodistal myopathy 4 semapv:UnspecifiedMatching MONDO:0030712 oculopharyngodistal myopathy 4 skos:exactMatch UMLS:C5676941 semapv:UnspecifiedMatching MONDO:0030714 osteogenesis imperfecta, IIA 22 skos:exactMatch MEDGEN:1801631 semapv:UnspecifiedMatching MONDO:0030714 osteogenesis imperfecta, IIA 22 skos:exactMatch OMIM:619795 osteogenesis imperfecta, type 22 semapv:UnspecifiedMatching MONDO:0030714 osteogenesis imperfecta, IIA 22 skos:exactMatch UMLS:C5676943 semapv:UnspecifiedMatching MONDO:0030716 spermatogenic failure 66 skos:exactMatch DOID:0070565 spermatogenic failure 66 semapv:UnspecifiedMatching MONDO:0030716 spermatogenic failure 66 skos:exactMatch MEDGEN:1806298 semapv:UnspecifiedMatching MONDO:0030716 spermatogenic failure 66 skos:exactMatch OMIM:619799 spermatogenic failure 66 semapv:UnspecifiedMatching MONDO:0030716 spermatogenic failure 66 skos:exactMatch UMLS:C5676945 semapv:UnspecifiedMatching MONDO:0030717 immunodeficiency 97 with autoinflammation skos:exactMatch DOID:0061067 immunodeficiency 97 semapv:UnspecifiedMatching MONDO:0030717 immunodeficiency 97 with autoinflammation skos:exactMatch MEDGEN:1802936 semapv:UnspecifiedMatching MONDO:0030717 immunodeficiency 97 with autoinflammation skos:exactMatch OMIM:619802 immunodeficiency 97 with autoinflammation semapv:UnspecifiedMatching MONDO:0030717 immunodeficiency 97 with autoinflammation skos:exactMatch UMLS:C5676946 semapv:UnspecifiedMatching MONDO:0030718 spermatogenic failure 67 skos:exactMatch DOID:0070566 spermatogenic failure 67 semapv:UnspecifiedMatching MONDO:0030718 spermatogenic failure 67 skos:exactMatch MEDGEN:1804099 semapv:UnspecifiedMatching MONDO:0030718 spermatogenic failure 67 skos:exactMatch OMIM:619803 spermatogenic failure 67 semapv:UnspecifiedMatching MONDO:0030718 spermatogenic failure 67 skos:exactMatch UMLS:C5676947 semapv:UnspecifiedMatching MONDO:0030719 hearing loss, autosomal dominant 82 skos:exactMatch DOID:0070603 autosomal dominant nonsyndromic deafness 82 semapv:UnspecifiedMatching MONDO:0030719 hearing loss, autosomal dominant 82 skos:exactMatch MEDGEN:1803416 semapv:UnspecifiedMatching MONDO:0030719 hearing loss, autosomal dominant 82 skos:exactMatch OMIM:619804 deafness, autosomal dominant 82 semapv:UnspecifiedMatching MONDO:0030719 hearing loss, autosomal dominant 82 skos:exactMatch UMLS:C5676948 semapv:UnspecifiedMatching MONDO:0030720 trichomonal vulvovaginitis skos:exactMatch ICD10CM:A59.01 Trichomonal vulvovaginitis semapv:UnspecifiedMatching MONDO:0030720 trichomonal vulvovaginitis skos:exactMatch MEDGEN:754472 semapv:UnspecifiedMatching MONDO:0030720 trichomonal vulvovaginitis skos:exactMatch SCTID:81598001 semapv:UnspecifiedMatching MONDO:0030720 trichomonal vulvovaginitis skos:exactMatch UMLS:C2945558 semapv:UnspecifiedMatching MONDO:0030720 trichomonal vulvovaginitis skos:exactMatch icd11.foundation:517019329 Trichomonal vulvovaginitis semapv:UnspecifiedMatching MONDO:0030721 spermatogenic failure 68 skos:exactMatch DOID:0070567 spermatogenic failure 68 semapv:UnspecifiedMatching MONDO:0030721 spermatogenic failure 68 skos:exactMatch MEDGEN:1812032 semapv:UnspecifiedMatching MONDO:0030721 spermatogenic failure 68 skos:exactMatch OMIM:619805 spermatogenic failure 68 semapv:UnspecifiedMatching MONDO:0030721 spermatogenic failure 68 skos:exactMatch UMLS:C5676949 semapv:UnspecifiedMatching MONDO:0030723 hearing loss, autosomal dominant 83 skos:exactMatch DOID:0070609 autosomal dominant nonsyndromic deafness 83 semapv:UnspecifiedMatching MONDO:0030723 hearing loss, autosomal dominant 83 skos:exactMatch MEDGEN:1812664 semapv:UnspecifiedMatching MONDO:0030723 hearing loss, autosomal dominant 83 skos:exactMatch OMIM:619808 deafness, autosomal dominant 83 semapv:UnspecifiedMatching MONDO:0030723 hearing loss, autosomal dominant 83 skos:exactMatch UMLS:C5676951 semapv:UnspecifiedMatching MONDO:0030724 hearing loss, autosomal dominant 84 skos:exactMatch DOID:0070604 autosomal dominant nonsyndromic deafness 84 semapv:UnspecifiedMatching MONDO:0030724 hearing loss, autosomal dominant 84 skos:exactMatch MEDGEN:1801352 semapv:UnspecifiedMatching MONDO:0030724 hearing loss, autosomal dominant 84 skos:exactMatch OMIM:619810 deafness, autosomal dominant 84 semapv:UnspecifiedMatching MONDO:0030724 hearing loss, autosomal dominant 84 skos:exactMatch UMLS:C5676952 semapv:UnspecifiedMatching MONDO:0030726 neutropenia, severe congenital, 9, autosomal dominant skos:exactMatch MEDGEN:1802793 semapv:UnspecifiedMatching MONDO:0030726 neutropenia, severe congenital, 9, autosomal dominant skos:exactMatch OMIM:619813 neutropenia, severe congenital, 9, autosomal dominant semapv:UnspecifiedMatching MONDO:0030726 neutropenia, severe congenital, 9, autosomal dominant skos:exactMatch UMLS:C5676954 semapv:UnspecifiedMatching MONDO:0030727 developmental and epileptic encephalopathy 101 skos:exactMatch DOID:0070387 developmental and epileptic encephalopathy 101 semapv:UnspecifiedMatching MONDO:0030727 developmental and epileptic encephalopathy 101 skos:exactMatch MEDGEN:1805172 semapv:UnspecifiedMatching MONDO:0030727 developmental and epileptic encephalopathy 101 skos:exactMatch OMIM:619814 developmental and epileptic encephalopathy 101 semapv:UnspecifiedMatching MONDO:0030727 developmental and epileptic encephalopathy 101 skos:exactMatch UMLS:C5676955 semapv:UnspecifiedMatching MONDO:0030729 Tessadori-van Haaften neurodevelopmental syndrome 1 skos:exactMatch MEDGEN:1810348 semapv:UnspecifiedMatching MONDO:0030729 Tessadori-van Haaften neurodevelopmental syndrome 1 skos:exactMatch OMIM:619758 tessadori-bicknell-van haaften neurodevelopmental syndrome 1 semapv:UnspecifiedMatching MONDO:0030729 Tessadori-van Haaften neurodevelopmental syndrome 1 skos:exactMatch UMLS:C5676922 semapv:UnspecifiedMatching MONDO:0030730 Tessadori-van Haaften neurodevelopmental syndrome 2 skos:exactMatch MEDGEN:1803228 semapv:UnspecifiedMatching MONDO:0030730 Tessadori-van Haaften neurodevelopmental syndrome 2 skos:exactMatch OMIM:619759 tessadori-bicknell-van haaften neurodevelopmental syndrome 2 semapv:UnspecifiedMatching MONDO:0030730 Tessadori-van Haaften neurodevelopmental syndrome 2 skos:exactMatch UMLS:C5676923 semapv:UnspecifiedMatching MONDO:0030731 aortic aneurysm, familial thoracic 12 skos:exactMatch MEDGEN:1802657 semapv:UnspecifiedMatching MONDO:0030731 aortic aneurysm, familial thoracic 12 skos:exactMatch OMIM:619825 aortic aneurysm, familial thoracic 12 semapv:UnspecifiedMatching MONDO:0030731 aortic aneurysm, familial thoracic 12 skos:exactMatch UMLS:C5676959 semapv:UnspecifiedMatching MONDO:0030732 spermatogenic failure 69 skos:exactMatch DOID:0070568 spermatogenic failure 69 semapv:UnspecifiedMatching MONDO:0030732 spermatogenic failure 69 skos:exactMatch MEDGEN:1811285 semapv:UnspecifiedMatching MONDO:0030732 spermatogenic failure 69 skos:exactMatch OMIM:619826 spermatogenic failure 69 semapv:UnspecifiedMatching MONDO:0030732 spermatogenic failure 69 skos:exactMatch UMLS:C5676960 semapv:UnspecifiedMatching MONDO:0030733 spermatogenic failure 70 skos:exactMatch DOID:0070569 spermatogenic failure 70 semapv:UnspecifiedMatching MONDO:0030733 spermatogenic failure 70 skos:exactMatch MEDGEN:1809945 semapv:UnspecifiedMatching MONDO:0030733 spermatogenic failure 70 skos:exactMatch OMIM:619828 spermatogenic failure 70 semapv:UnspecifiedMatching MONDO:0030733 spermatogenic failure 70 skos:exactMatch UMLS:C5676962 semapv:UnspecifiedMatching MONDO:0030736 ovarian dysgenesis 10 skos:exactMatch DOID:0061014 ovarian dysgenesis 10 semapv:UnspecifiedMatching MONDO:0030736 ovarian dysgenesis 10 skos:exactMatch MEDGEN:1801078 semapv:UnspecifiedMatching MONDO:0030736 ovarian dysgenesis 10 skos:exactMatch OMIM:619834 ovarian dysgenesis 10 semapv:UnspecifiedMatching MONDO:0030736 ovarian dysgenesis 10 skos:exactMatch UMLS:C5676966 semapv:UnspecifiedMatching MONDO:0030746 epidermolysis bullosa, junctional 2A, intermediate skos:exactMatch MEDGEN:1807376 semapv:UnspecifiedMatching MONDO:0030746 epidermolysis bullosa, junctional 2A, intermediate skos:exactMatch OMIM:619783 epidermolysis bullosa, junctional 2a, intermediate semapv:UnspecifiedMatching MONDO:0030746 epidermolysis bullosa, junctional 2A, intermediate skos:exactMatch UMLS:C5676936 semapv:UnspecifiedMatching MONDO:0030747 epidermolysis bullosa, junctional 2B, severe skos:exactMatch MEDGEN:1805467 semapv:UnspecifiedMatching MONDO:0030747 epidermolysis bullosa, junctional 2B, severe skos:exactMatch OMIM:619784 epidermolysis bullosa, junctional 2b, severe semapv:UnspecifiedMatching MONDO:0030747 epidermolysis bullosa, junctional 2B, severe skos:exactMatch UMLS:C5676937 semapv:UnspecifiedMatching MONDO:0030748 epidermolysis bullosa, junctional 3A, intermediate skos:exactMatch MEDGEN:1812940 semapv:UnspecifiedMatching MONDO:0030748 epidermolysis bullosa, junctional 3A, intermediate skos:exactMatch OMIM:619785 epidermolysis bullosa, junctional 3a, intermediate semapv:UnspecifiedMatching MONDO:0030748 epidermolysis bullosa, junctional 3A, intermediate skos:exactMatch UMLS:C5676938 semapv:UnspecifiedMatching MONDO:0030749 epidermolysis bullosa, junctional 3B, severe skos:exactMatch MEDGEN:1807897 semapv:UnspecifiedMatching MONDO:0030749 epidermolysis bullosa, junctional 3B, severe skos:exactMatch OMIM:619786 epidermolysis bullosa, junctional 3b, severe semapv:UnspecifiedMatching MONDO:0030749 epidermolysis bullosa, junctional 3B, severe skos:exactMatch UMLS:C5676939 semapv:UnspecifiedMatching MONDO:0030750 epidermolysis bullosa, junctional 4, intermediate skos:exactMatch MEDGEN:382015 semapv:UnspecifiedMatching MONDO:0030750 epidermolysis bullosa, junctional 4, intermediate skos:exactMatch OMIM:619787 epidermolysis bullosa, junctional 4, intermediate semapv:UnspecifiedMatching MONDO:0030750 epidermolysis bullosa, junctional 4, intermediate skos:exactMatch UMLS:C2608084 semapv:UnspecifiedMatching MONDO:0030756 Stuve-Wiedemann syndrome 2 skos:exactMatch MEDGEN:1805977 semapv:UnspecifiedMatching MONDO:0030756 Stuve-Wiedemann syndrome 2 skos:exactMatch OMIM:619751 stuve-wiedemann syndrome 2 semapv:UnspecifiedMatching MONDO:0030756 Stuve-Wiedemann syndrome 2 skos:exactMatch UMLS:C5676919 semapv:UnspecifiedMatching MONDO:0030767 obsolete genetic tumor of hematopoietic and lymphoid tissues skos:exactMatch Orphanet:322126 Genetic tumor of hematopoietic and lymphoid tissues semapv:UnspecifiedMatching MONDO:0030768 epidermolysis bullosa, junctional 5A, intermediate skos:exactMatch MEDGEN:1811851 semapv:UnspecifiedMatching MONDO:0030768 epidermolysis bullosa, junctional 5A, intermediate skos:exactMatch OMIM:619816 epidermolysis bullosa, junctional 5a, intermediate semapv:UnspecifiedMatching MONDO:0030768 epidermolysis bullosa, junctional 5A, intermediate skos:exactMatch UMLS:C5676956 semapv:UnspecifiedMatching MONDO:0030770 congenital disorder of deglycosylation 2 skos:exactMatch DOID:0060990 congenital disorder of deglycosylation 2 semapv:UnspecifiedMatching MONDO:0030770 congenital disorder of deglycosylation 2 skos:exactMatch MEDGEN:1809253 semapv:UnspecifiedMatching MONDO:0030770 congenital disorder of deglycosylation 2 skos:exactMatch OMIM:619775 congenital disorder of deglycosylation 2 semapv:UnspecifiedMatching MONDO:0030770 congenital disorder of deglycosylation 2 skos:exactMatch UMLS:C5676931 semapv:UnspecifiedMatching MONDO:0030781 restrictive dermopathy 2 skos:exactMatch DOID:0070370 restrictive dermopathy 2 semapv:UnspecifiedMatching MONDO:0030781 restrictive dermopathy 2 skos:exactMatch MEDGEN:1801155 semapv:UnspecifiedMatching MONDO:0030781 restrictive dermopathy 2 skos:exactMatch OMIM:619793 restrictive dermopathy 2 semapv:UnspecifiedMatching MONDO:0030781 restrictive dermopathy 2 skos:exactMatch UMLS:C5676942 semapv:UnspecifiedMatching MONDO:0030785 intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly skos:exactMatch DOID:0081234 autosomal recessive intellectual developmental disorder 75 semapv:UnspecifiedMatching MONDO:0030785 intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly skos:exactMatch MEDGEN:1808159 semapv:UnspecifiedMatching MONDO:0030785 intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly skos:exactMatch OMIM:619827 intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly semapv:UnspecifiedMatching MONDO:0030785 intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly skos:exactMatch UMLS:C5676961 semapv:UnspecifiedMatching MONDO:0030787 spermatogenic failure 71 skos:exactMatch DOID:0070570 spermatogenic failure 71 semapv:UnspecifiedMatching MONDO:0030787 spermatogenic failure 71 skos:exactMatch MEDGEN:1801153 semapv:UnspecifiedMatching MONDO:0030787 spermatogenic failure 71 skos:exactMatch OMIM:619831 spermatogenic failure 71 semapv:UnspecifiedMatching MONDO:0030787 spermatogenic failure 71 skos:exactMatch UMLS:C5676963 semapv:UnspecifiedMatching MONDO:0030796 leukoencephalopathy, hereditary diffuse, with spheroids skos:exactMatch MEDGEN:777989 semapv:UnspecifiedMatching MONDO:0030796 leukoencephalopathy, hereditary diffuse, with spheroids skos:exactMatch OMIMPS:221820 Leukoencephalopathy, hereditary diffuse, with spheroids semapv:UnspecifiedMatching MONDO:0030796 leukoencephalopathy, hereditary diffuse, with spheroids skos:exactMatch UMLS:C3711381 semapv:UnspecifiedMatching MONDO:0030797 retinitis pigmentosa 93 skos:exactMatch DOID:0061105 retinitis pigmentosa 93 semapv:UnspecifiedMatching MONDO:0030797 retinitis pigmentosa 93 skos:exactMatch MEDGEN:1810905 semapv:UnspecifiedMatching MONDO:0030797 retinitis pigmentosa 93 skos:exactMatch OMIM:619845 retinitis pigmentosa 93 semapv:UnspecifiedMatching MONDO:0030797 retinitis pigmentosa 93 skos:exactMatch UMLS:C5676970 semapv:UnspecifiedMatching MONDO:0030798 immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias skos:exactMatch DOID:0061069 immunodeficiency 99 semapv:UnspecifiedMatching MONDO:0030798 immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias skos:exactMatch MEDGEN:1801342 semapv:UnspecifiedMatching MONDO:0030798 immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias skos:exactMatch OMIM:619846 immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias semapv:UnspecifiedMatching MONDO:0030798 immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias skos:exactMatch UMLS:C5676971 semapv:UnspecifiedMatching MONDO:0030800 cholestasis, progressive familial intrahepatic, 9 skos:exactMatch MEDGEN:1809292 semapv:UnspecifiedMatching MONDO:0030800 cholestasis, progressive familial intrahepatic, 9 skos:exactMatch OMIM:619849 cholestasis, progressive familial intrahepatic, 9 semapv:UnspecifiedMatching MONDO:0030800 cholestasis, progressive familial intrahepatic, 9 skos:exactMatch UMLS:C5676973 semapv:UnspecifiedMatching MONDO:0030801 monosomy 7 myelodysplasia and leukemia syndrome 2 skos:exactMatch MEDGEN:1762901 semapv:UnspecifiedMatching MONDO:0030801 monosomy 7 myelodysplasia and leukemia syndrome 2 skos:exactMatch OMIM:619041 monosomy 7 myelodysplasia and leukemia syndrome 2 semapv:UnspecifiedMatching MONDO:0030801 monosomy 7 myelodysplasia and leukemia syndrome 2 skos:exactMatch UMLS:C5436668 semapv:UnspecifiedMatching MONDO:0030805 spinocerebellar ataxia 49 skos:exactMatch MEDGEN:1805601 semapv:UnspecifiedMatching MONDO:0030805 spinocerebellar ataxia 49 skos:exactMatch OMIM:619806 spinocerebellar ataxia 49 semapv:UnspecifiedMatching MONDO:0030805 spinocerebellar ataxia 49 skos:exactMatch Orphanet:631106 Spinocerebellar ataxia type 49 semapv:UnspecifiedMatching MONDO:0030805 spinocerebellar ataxia 49 skos:exactMatch UMLS:C5676950 semapv:UnspecifiedMatching MONDO:0030809 spermatogenic failure 72 skos:exactMatch DOID:0070571 spermatogenic failure 72 semapv:UnspecifiedMatching MONDO:0030809 spermatogenic failure 72 skos:exactMatch MEDGEN:1803118 semapv:UnspecifiedMatching MONDO:0030809 spermatogenic failure 72 skos:exactMatch OMIM:619867 spermatogenic failure 72 semapv:UnspecifiedMatching MONDO:0030809 spermatogenic failure 72 skos:exactMatch UMLS:C5676980 semapv:UnspecifiedMatching MONDO:0030810 cholestasis, progressive familial intrahepatic, 10 skos:exactMatch MEDGEN:1807702 semapv:UnspecifiedMatching MONDO:0030810 cholestasis, progressive familial intrahepatic, 10 skos:exactMatch OMIM:619868 cholestasis, progressive familial intrahepatic, 10 semapv:UnspecifiedMatching MONDO:0030810 cholestasis, progressive familial intrahepatic, 10 skos:exactMatch UMLS:C5676981 semapv:UnspecifiedMatching MONDO:0030813 immunodeficiency 101 (varicella zoster virus-specific) skos:exactMatch DOID:0061071 immunodeficiency 101 semapv:UnspecifiedMatching MONDO:0030813 immunodeficiency 101 (varicella zoster virus-specific) skos:exactMatch MEDGEN:1810668 semapv:UnspecifiedMatching MONDO:0030813 immunodeficiency 101 (varicella zoster virus-specific) skos:exactMatch OMIM:619872 immunodeficiency 101 (varicella zoster virus-specific) semapv:UnspecifiedMatching MONDO:0030813 immunodeficiency 101 (varicella zoster virus-specific) skos:exactMatch UMLS:C5676983 semapv:UnspecifiedMatching MONDO:0030815 cholestasis, progressive familial intrahepatic, 11 skos:exactMatch MEDGEN:1807308 semapv:UnspecifiedMatching MONDO:0030815 cholestasis, progressive familial intrahepatic, 11 skos:exactMatch OMIM:619874 cholestasis, progressive familial intrahepatic, 11 semapv:UnspecifiedMatching MONDO:0030815 cholestasis, progressive familial intrahepatic, 11 skos:exactMatch UMLS:C5676985 semapv:UnspecifiedMatching MONDO:0030818 spermatogenic failure 73 skos:exactMatch DOID:0070572 spermatogenic failure 73 semapv:UnspecifiedMatching MONDO:0030818 spermatogenic failure 73 skos:exactMatch MEDGEN:1801127 semapv:UnspecifiedMatching MONDO:0030818 spermatogenic failure 73 skos:exactMatch OMIM:619878 spermatogenic failure 73 semapv:UnspecifiedMatching MONDO:0030818 spermatogenic failure 73 skos:exactMatch UMLS:C5676988 semapv:UnspecifiedMatching MONDO:0030819 meckel syndrome 14 skos:exactMatch MEDGEN:1809650 semapv:UnspecifiedMatching MONDO:0030819 meckel syndrome 14 skos:exactMatch OMIM:619879 meckel syndrome 14 semapv:UnspecifiedMatching MONDO:0030819 meckel syndrome 14 skos:exactMatch UMLS:C5676989 semapv:UnspecifiedMatching MONDO:0030822 renal hypodysplasia/aplasia 4 skos:exactMatch MEDGEN:1808595 semapv:UnspecifiedMatching MONDO:0030822 renal hypodysplasia/aplasia 4 skos:exactMatch OMIM:619887 renal hypodysplasia/aplasia 4 semapv:UnspecifiedMatching MONDO:0030822 renal hypodysplasia/aplasia 4 skos:exactMatch UMLS:C5676993 semapv:UnspecifiedMatching MONDO:0030827 macrothrombocytopenia, isolated, 2, autosomal dominant skos:exactMatch DOID:0060995 autosomal dominant isolated macrothrombocytopenia 2 semapv:UnspecifiedMatching MONDO:0030827 macrothrombocytopenia, isolated, 2, autosomal dominant skos:exactMatch MEDGEN:1802965 semapv:UnspecifiedMatching MONDO:0030827 macrothrombocytopenia, isolated, 2, autosomal dominant skos:exactMatch OMIM:619840 macrothrombocytopenia, isolated, 2, autosomal dominant semapv:UnspecifiedMatching MONDO:0030827 macrothrombocytopenia, isolated, 2, autosomal dominant skos:exactMatch UMLS:C5676968 semapv:UnspecifiedMatching MONDO:0030831 gastrointestinal defect and immunodeficiency syndrome skos:exactMatch MEDGEN:1708537 semapv:UnspecifiedMatching MONDO:0030831 gastrointestinal defect and immunodeficiency syndrome skos:exactMatch OMIMPS:243150 Gastrointestinal defect and immunodeficiency syndrome semapv:UnspecifiedMatching MONDO:0030831 gastrointestinal defect and immunodeficiency syndrome skos:exactMatch Orphanet:436252 Combined immunodeficiency-multiple intestinal atresia semapv:UnspecifiedMatching MONDO:0030831 gastrointestinal defect and immunodeficiency syndrome skos:exactMatch UMLS:C5234880 semapv:UnspecifiedMatching MONDO:0030835 developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy skos:exactMatch MEDGEN:1765507 semapv:UnspecifiedMatching MONDO:0030835 developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy skos:exactMatch OMIM:619090 developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy semapv:UnspecifiedMatching MONDO:0030835 developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy skos:exactMatch UMLS:C5436781 semapv:UnspecifiedMatching MONDO:0030837 neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities skos:exactMatch MEDGEN:1764121 semapv:UnspecifiedMatching MONDO:0030837 neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities skos:exactMatch OMIM:619092 neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities semapv:UnspecifiedMatching MONDO:0030837 neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities skos:exactMatch UMLS:C5436788 semapv:UnspecifiedMatching MONDO:0030839 thyroid hormone metabolism, abnormal, 2 skos:exactMatch MEDGEN:1812066 semapv:UnspecifiedMatching MONDO:0030839 thyroid hormone metabolism, abnormal, 2 skos:exactMatch OMIM:619855 thyroid hormone metabolism, abnormal, 2 semapv:UnspecifiedMatching MONDO:0030839 thyroid hormone metabolism, abnormal, 2 skos:exactMatch UMLS:C5676976 semapv:UnspecifiedMatching MONDO:0030840 mismatch repair cancer syndrome 2 skos:exactMatch MEDGEN:1750327 semapv:UnspecifiedMatching MONDO:0030840 mismatch repair cancer syndrome 2 skos:exactMatch OMIM:619096 mismatch repair cancer syndrome 2 semapv:UnspecifiedMatching MONDO:0030840 mismatch repair cancer syndrome 2 skos:exactMatch UMLS:C5436806 semapv:UnspecifiedMatching MONDO:0030841 mismatch repair cancer syndrome 3 skos:exactMatch MEDGEN:1733656 semapv:UnspecifiedMatching MONDO:0030841 mismatch repair cancer syndrome 3 skos:exactMatch OMIM:619097 mismatch repair cancer syndrome 3 semapv:UnspecifiedMatching MONDO:0030841 mismatch repair cancer syndrome 3 skos:exactMatch UMLS:C5436807 semapv:UnspecifiedMatching MONDO:0030843 mismatch repair cancer syndrome 4 skos:exactMatch MEDGEN:1745382 semapv:UnspecifiedMatching MONDO:0030843 mismatch repair cancer syndrome 4 skos:exactMatch OMIM:619101 mismatch repair cancer syndrome 4 semapv:UnspecifiedMatching MONDO:0030843 mismatch repair cancer syndrome 4 skos:exactMatch UMLS:C5436817 semapv:UnspecifiedMatching MONDO:0030844 spermatogenic failure 47 skos:exactMatch DOID:0112175 spermatogenic failure 47 semapv:UnspecifiedMatching MONDO:0030844 spermatogenic failure 47 skos:exactMatch MEDGEN:1721477 semapv:UnspecifiedMatching MONDO:0030844 spermatogenic failure 47 skos:exactMatch OMIM:619102 spermatogenic failure 47 semapv:UnspecifiedMatching MONDO:0030844 spermatogenic failure 47 skos:exactMatch UMLS:C5436818 semapv:UnspecifiedMatching MONDO:0030846 spermatogenic failure 48 skos:exactMatch DOID:0112176 spermatogenic failure 48 semapv:UnspecifiedMatching MONDO:0030846 spermatogenic failure 48 skos:exactMatch MEDGEN:1761843 semapv:UnspecifiedMatching MONDO:0030846 spermatogenic failure 48 skos:exactMatch OMIM:619108 spermatogenic failure 48 semapv:UnspecifiedMatching MONDO:0030846 spermatogenic failure 48 skos:exactMatch UMLS:C5436823 semapv:UnspecifiedMatching MONDO:0030847 arthrogryposis, distal, type 1C skos:exactMatch DOID:0112190 distal arthrogryposis type 1C semapv:UnspecifiedMatching MONDO:0030847 arthrogryposis, distal, type 1C skos:exactMatch MEDGEN:1722257 semapv:UnspecifiedMatching MONDO:0030847 arthrogryposis, distal, type 1C skos:exactMatch OMIM:619110 arthrogryposis, distal, type 1c semapv:UnspecifiedMatching MONDO:0030847 arthrogryposis, distal, type 1C skos:exactMatch UMLS:C5436834 semapv:UnspecifiedMatching MONDO:0030849 intellectual developmental disorder with speech delay and axonal peripheral neuropathy skos:exactMatch MEDGEN:1754849 semapv:UnspecifiedMatching MONDO:0030849 intellectual developmental disorder with speech delay and axonal peripheral neuropathy skos:exactMatch OMIM:619099 intellectual developmental disorder with speech delay and axonal peripheral neuropathy semapv:UnspecifiedMatching MONDO:0030849 intellectual developmental disorder with speech delay and axonal peripheral neuropathy skos:exactMatch UMLS:C5436813 semapv:UnspecifiedMatching MONDO:0030852 neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities skos:exactMatch MEDGEN:1777442 semapv:UnspecifiedMatching MONDO:0030852 neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities skos:exactMatch OMIM:619103 neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities semapv:UnspecifiedMatching MONDO:0030852 neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities skos:exactMatch UMLS:C5436821 semapv:UnspecifiedMatching MONDO:0030854 combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 skos:exactMatch MEDGEN:1763836 semapv:UnspecifiedMatching MONDO:0030854 combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 skos:exactMatch OMIM:619115 combined osteogenesis imperfecta and ehlers-danlos syndrome 1 semapv:UnspecifiedMatching MONDO:0030854 combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 skos:exactMatch UMLS:C5436842 semapv:UnspecifiedMatching MONDO:0030855 combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 skos:exactMatch MEDGEN:1751229 semapv:UnspecifiedMatching MONDO:0030855 combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 skos:exactMatch OMIM:619120 combined osteogenesis imperfecta and ehlers-danlos syndrome 2 semapv:UnspecifiedMatching MONDO:0030855 combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 skos:exactMatch UMLS:C5436847 semapv:UnspecifiedMatching MONDO:0030856 developmental and epileptic encephalopathy 89 skos:exactMatch DOID:0112223 developmental and epileptic encephalopathy 89 semapv:UnspecifiedMatching MONDO:0030856 developmental and epileptic encephalopathy 89 skos:exactMatch MEDGEN:1761611 semapv:UnspecifiedMatching MONDO:0030856 developmental and epileptic encephalopathy 89 skos:exactMatch OMIM:619124 developmental and epileptic encephalopathy 89 semapv:UnspecifiedMatching MONDO:0030856 developmental and epileptic encephalopathy 89 skos:exactMatch UMLS:C5436853 semapv:UnspecifiedMatching MONDO:0030858 immunodeficiency 75 skos:exactMatch MEDGEN:1741014 semapv:UnspecifiedMatching MONDO:0030858 immunodeficiency 75 skos:exactMatch OMIM:619126 immunodeficiency 75 with lymphoproliferation semapv:UnspecifiedMatching MONDO:0030858 immunodeficiency 75 skos:exactMatch Orphanet:664729 EBV-induced lymphoproliferative disease due to TET2 deficiency semapv:UnspecifiedMatching MONDO:0030858 immunodeficiency 75 skos:exactMatch UMLS:C5436860 semapv:UnspecifiedMatching MONDO:0030859 COACH syndrome 2 skos:exactMatch MEDGEN:1752166 semapv:UnspecifiedMatching MONDO:0030859 COACH syndrome 2 skos:exactMatch OMIM:619111 coach syndrome 2 semapv:UnspecifiedMatching MONDO:0030859 COACH syndrome 2 skos:exactMatch UMLS:C5436837 semapv:UnspecifiedMatching MONDO:0030860 neuronopathy, distal hereditary motor, type 5C skos:exactMatch DOID:0081401 autosomal dominant distal hereditary motor neuronopathy 13 semapv:UnspecifiedMatching MONDO:0030860 neuronopathy, distal hereditary motor, type 5C skos:exactMatch MEDGEN:1760720 semapv:UnspecifiedMatching MONDO:0030860 neuronopathy, distal hereditary motor, type 5C skos:exactMatch OMIM:619112 neuronopathy, distal hereditary motor, autosomal dominant 13 semapv:UnspecifiedMatching MONDO:0030860 neuronopathy, distal hereditary motor, type 5C skos:exactMatch UMLS:C5436838 semapv:UnspecifiedMatching MONDO:0030861 osteogenesis imperfecta, type 21 skos:exactMatch DOID:0112201 osteogenesis imperfecta type 21 semapv:UnspecifiedMatching MONDO:0030861 osteogenesis imperfecta, type 21 skos:exactMatch MEDGEN:1723598 semapv:UnspecifiedMatching MONDO:0030861 osteogenesis imperfecta, type 21 skos:exactMatch OMIM:619131 osteogenesis imperfecta, type 21 semapv:UnspecifiedMatching MONDO:0030861 osteogenesis imperfecta, type 21 skos:exactMatch UMLS:C5436875 semapv:UnspecifiedMatching MONDO:0030862 COACH syndrome 3 skos:exactMatch MEDGEN:1755565 semapv:UnspecifiedMatching MONDO:0030862 COACH syndrome 3 skos:exactMatch OMIM:619113 coach syndrome 3 semapv:UnspecifiedMatching MONDO:0030862 COACH syndrome 3 skos:exactMatch UMLS:C5436841 semapv:UnspecifiedMatching MONDO:0030864 Ritscher-Schinzel syndrome 3 skos:exactMatch MEDGEN:1744611 semapv:UnspecifiedMatching MONDO:0030864 Ritscher-Schinzel syndrome 3 skos:exactMatch OMIM:619135 ritscher-schinzel syndrome 3 semapv:UnspecifiedMatching MONDO:0030864 Ritscher-Schinzel syndrome 3 skos:exactMatch UMLS:C5436883 semapv:UnspecifiedMatching MONDO:0030866 neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities skos:exactMatch DOID:0070543 neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities semapv:UnspecifiedMatching MONDO:0030866 neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities skos:exactMatch MEDGEN:1750805 semapv:UnspecifiedMatching MONDO:0030866 neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities skos:exactMatch OMIM:619121 neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities semapv:UnspecifiedMatching MONDO:0030866 neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities skos:exactMatch UMLS:C5436848 semapv:UnspecifiedMatching MONDO:0030867 thrombocytopenia 7 skos:exactMatch MEDGEN:1768257 semapv:UnspecifiedMatching MONDO:0030867 thrombocytopenia 7 skos:exactMatch OMIM:619130 thrombocytopenia 7 semapv:UnspecifiedMatching MONDO:0030867 thrombocytopenia 7 skos:exactMatch UMLS:C5436874 semapv:UnspecifiedMatching MONDO:0030868 spermatogenic failure 49 skos:exactMatch DOID:0112271 spermatogenic failure 49 semapv:UnspecifiedMatching MONDO:0030868 spermatogenic failure 49 skos:exactMatch MEDGEN:1742668 semapv:UnspecifiedMatching MONDO:0030868 spermatogenic failure 49 skos:exactMatch OMIM:619144 spermatogenic failure 49 semapv:UnspecifiedMatching MONDO:0030868 spermatogenic failure 49 skos:exactMatch UMLS:C5436887 semapv:UnspecifiedMatching MONDO:0030869 spermatogenic failure 50 skos:exactMatch DOID:0112272 spermatogenic failure 50 semapv:UnspecifiedMatching MONDO:0030869 spermatogenic failure 50 skos:exactMatch MEDGEN:1747507 semapv:UnspecifiedMatching MONDO:0030869 spermatogenic failure 50 skos:exactMatch OMIM:619145 spermatogenic failure 50 semapv:UnspecifiedMatching MONDO:0030869 spermatogenic failure 50 skos:exactMatch UMLS:C5436888 semapv:UnspecifiedMatching MONDO:0030870 premature ovarian failure 17 skos:exactMatch DOID:0080874 primary ovarian insufficiency 17 semapv:UnspecifiedMatching MONDO:0030870 premature ovarian failure 17 skos:exactMatch MEDGEN:1748767 semapv:UnspecifiedMatching MONDO:0030870 premature ovarian failure 17 skos:exactMatch OMIM:619146 premature ovarian failure 17 semapv:UnspecifiedMatching MONDO:0030870 premature ovarian failure 17 skos:exactMatch UMLS:C5436889 semapv:UnspecifiedMatching MONDO:0030871 vertebral hypersegmentation and orofacial anomalies skos:exactMatch DOID:0070418 vertebral hypersegmentation and orofacial anomalies semapv:UnspecifiedMatching MONDO:0030871 vertebral hypersegmentation and orofacial anomalies skos:exactMatch MEDGEN:1746640 semapv:UnspecifiedMatching MONDO:0030871 vertebral hypersegmentation and orofacial anomalies skos:exactMatch OMIM:619122 vertebral hypersegmentation and orofacial anomalies semapv:UnspecifiedMatching MONDO:0030871 vertebral hypersegmentation and orofacial anomalies skos:exactMatch UMLS:C5436851 semapv:UnspecifiedMatching MONDO:0030872 frontotemporal dementia and/or amyotrophic lateral sclerosis 8 skos:exactMatch MEDGEN:1728824 semapv:UnspecifiedMatching MONDO:0030872 frontotemporal dementia and/or amyotrophic lateral sclerosis 8 skos:exactMatch OMIM:619132 frontotemporal dementia and/or amyotrophic lateral sclerosis 8 semapv:UnspecifiedMatching MONDO:0030872 frontotemporal dementia and/or amyotrophic lateral sclerosis 8 skos:exactMatch UMLS:C5436881 semapv:UnspecifiedMatching MONDO:0030873 cardiofacioneurodevelopmental syndrome skos:exactMatch MEDGEN:1721861 semapv:UnspecifiedMatching MONDO:0030873 cardiofacioneurodevelopmental syndrome skos:exactMatch OMIM:619123 cardiofacioneurodevelopmental syndrome semapv:UnspecifiedMatching MONDO:0030873 cardiofacioneurodevelopmental syndrome skos:exactMatch UMLS:C5436852 semapv:UnspecifiedMatching MONDO:0030875 frontotemporal dementia and/or amyotrophic lateral sclerosis 5 skos:exactMatch MEDGEN:1756201 semapv:UnspecifiedMatching MONDO:0030875 frontotemporal dementia and/or amyotrophic lateral sclerosis 5 skos:exactMatch OMIM:619141 frontotemporal dementia and/or amyotrophic lateral sclerosis 5 semapv:UnspecifiedMatching MONDO:0030875 frontotemporal dementia and/or amyotrophic lateral sclerosis 5 skos:exactMatch UMLS:C5436884 semapv:UnspecifiedMatching MONDO:0030876 cardioacrofacial dysplasia 1 skos:exactMatch MEDGEN:1777656 semapv:UnspecifiedMatching MONDO:0030876 cardioacrofacial dysplasia 1 skos:exactMatch OMIM:619142 cardioacrofacial dysplasia 1 semapv:UnspecifiedMatching MONDO:0030876 cardioacrofacial dysplasia 1 skos:exactMatch UMLS:C5436885 semapv:UnspecifiedMatching MONDO:0030877 cardioacrofacial dysplasia 2 skos:exactMatch MEDGEN:1731253 semapv:UnspecifiedMatching MONDO:0030877 cardioacrofacial dysplasia 2 skos:exactMatch OMIM:619143 cardioacrofacial dysplasia 2 semapv:UnspecifiedMatching MONDO:0030877 cardioacrofacial dysplasia 2 skos:exactMatch UMLS:C5436886 semapv:UnspecifiedMatching MONDO:0030878 Kaya-Barakat-Masson syndrome skos:exactMatch MEDGEN:1725501 semapv:UnspecifiedMatching MONDO:0030878 Kaya-Barakat-Masson syndrome skos:exactMatch OMIM:619125 kaya-barakat-masson syndrome semapv:UnspecifiedMatching MONDO:0030878 Kaya-Barakat-Masson syndrome skos:exactMatch Orphanet:684240 Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome semapv:UnspecifiedMatching MONDO:0030878 Kaya-Barakat-Masson syndrome skos:exactMatch UMLS:C5436856 semapv:UnspecifiedMatching MONDO:0030880 mandibuloacral dysplasia progeroid syndrome skos:exactMatch MEDGEN:1741713 semapv:UnspecifiedMatching MONDO:0030880 mandibuloacral dysplasia progeroid syndrome skos:exactMatch OMIM:619127 mandibuloacral dysplasia progeroid syndrome semapv:UnspecifiedMatching MONDO:0030880 mandibuloacral dysplasia progeroid syndrome skos:exactMatch Orphanet:647667 Mandibuloacral dysplasia associated to MTX2 semapv:UnspecifiedMatching MONDO:0030880 mandibuloacral dysplasia progeroid syndrome skos:exactMatch UMLS:C5436867 semapv:UnspecifiedMatching MONDO:0030881 developmental and epileptic encephalopathy 102 skos:exactMatch DOID:0070388 developmental and epileptic encephalopathy 102 semapv:UnspecifiedMatching MONDO:0030881 developmental and epileptic encephalopathy 102 skos:exactMatch MEDGEN:1812769 semapv:UnspecifiedMatching MONDO:0030881 developmental and epileptic encephalopathy 102 skos:exactMatch OMIM:619881 developmental and epileptic encephalopathy 102 semapv:UnspecifiedMatching MONDO:0030881 developmental and epileptic encephalopathy 102 skos:exactMatch UMLS:C5676991 semapv:UnspecifiedMatching MONDO:0030883 carpal tunnel syndrome 2 skos:exactMatch DOID:0070467 carpal tunnel syndrome 2 semapv:UnspecifiedMatching MONDO:0030883 carpal tunnel syndrome 2 skos:exactMatch MEDGEN:1725962 semapv:UnspecifiedMatching MONDO:0030883 carpal tunnel syndrome 2 skos:exactMatch OMIM:619161 carpal tunnel syndrome 2 semapv:UnspecifiedMatching MONDO:0030883 carpal tunnel syndrome 2 skos:exactMatch UMLS:C5436916 semapv:UnspecifiedMatching MONDO:0030885 amyotrophic lateral sclerosis 26 with or without frontotemporal dementia skos:exactMatch DOID:0081380 amyotrophic lateral sclerosis type 26 semapv:UnspecifiedMatching MONDO:0030885 amyotrophic lateral sclerosis 26 with or without frontotemporal dementia skos:exactMatch MEDGEN:1771903 semapv:UnspecifiedMatching MONDO:0030885 amyotrophic lateral sclerosis 26 with or without frontotemporal dementia skos:exactMatch OMIM:619133 amyotrophic lateral sclerosis 26 with or without frontotemporal dementia semapv:UnspecifiedMatching MONDO:0030885 amyotrophic lateral sclerosis 26 with or without frontotemporal dementia skos:exactMatch UMLS:C5436882 semapv:UnspecifiedMatching MONDO:0030886 holoprosencephaly 14 skos:exactMatch MEDGEN:1811868 semapv:UnspecifiedMatching MONDO:0030886 holoprosencephaly 14 skos:exactMatch OMIM:619895 holoprosencephaly 14 semapv:UnspecifiedMatching MONDO:0030886 holoprosencephaly 14 skos:exactMatch UMLS:C5676994 semapv:UnspecifiedMatching MONDO:0030887 cardiomyopathy, dilated, 2G skos:exactMatch DOID:0081163 dilated cardiomyopathy 2G semapv:UnspecifiedMatching MONDO:0030887 cardiomyopathy, dilated, 2G skos:exactMatch MEDGEN:1801983 semapv:UnspecifiedMatching MONDO:0030887 cardiomyopathy, dilated, 2G skos:exactMatch OMIM:619897 cardiomyopathy, dilated, 2g semapv:UnspecifiedMatching MONDO:0030887 cardiomyopathy, dilated, 2G skos:exactMatch UMLS:C5676995 semapv:UnspecifiedMatching MONDO:0030890 pontocerebellar hypoplasia, IIA 17 skos:exactMatch MEDGEN:1809583 semapv:UnspecifiedMatching MONDO:0030890 pontocerebellar hypoplasia, IIA 17 skos:exactMatch OMIM:619909 pontocerebellar hypoplasia, type 17 semapv:UnspecifiedMatching MONDO:0030890 pontocerebellar hypoplasia, IIA 17 skos:exactMatch UMLS:C5676999 semapv:UnspecifiedMatching MONDO:0030891 intellectual developmental disorder, autosomal dominant 66 skos:exactMatch DOID:0061039 autosomal dominant intellectual developmental disorder 66 semapv:UnspecifiedMatching MONDO:0030891 intellectual developmental disorder, autosomal dominant 66 skos:exactMatch MEDGEN:1812470 semapv:UnspecifiedMatching MONDO:0030891 intellectual developmental disorder, autosomal dominant 66 skos:exactMatch OMIM:619910 intellectual developmental disorder, autosomal dominant 66 semapv:UnspecifiedMatching MONDO:0030891 intellectual developmental disorder, autosomal dominant 66 skos:exactMatch UMLS:C5677000 semapv:UnspecifiedMatching MONDO:0030893 leukoencephalopathy, progressive, infantile-onset, with or without deafness skos:exactMatch MEDGEN:1779519 semapv:UnspecifiedMatching MONDO:0030893 leukoencephalopathy, progressive, infantile-onset, with or without deafness skos:exactMatch OMIM:619147 leukoencephalopathy, progressive, infantile-onset, with or without deafness semapv:UnspecifiedMatching MONDO:0030893 leukoencephalopathy, progressive, infantile-onset, with or without deafness skos:exactMatch UMLS:C5542996 semapv:UnspecifiedMatching MONDO:0030894 AMED syndrome, digenic skos:exactMatch DOID:0080952 AMED syndrome semapv:UnspecifiedMatching MONDO:0030894 AMED syndrome, digenic skos:exactMatch MEDGEN:1754257 semapv:UnspecifiedMatching MONDO:0030894 AMED syndrome, digenic skos:exactMatch OMIM:619151 amed syndrome, digenic semapv:UnspecifiedMatching MONDO:0030894 AMED syndrome, digenic skos:exactMatch Orphanet:611216 Aplastic anemia-intellectual disability-dwarfism syndrome semapv:UnspecifiedMatching MONDO:0030894 AMED syndrome, digenic skos:exactMatch UMLS:C5436906 semapv:UnspecifiedMatching MONDO:0030895 nephrotic syndrome, type 22 skos:exactMatch DOID:0112268 nephrotic syndrome type 22 semapv:UnspecifiedMatching MONDO:0030895 nephrotic syndrome, type 22 skos:exactMatch MEDGEN:1745920 semapv:UnspecifiedMatching MONDO:0030895 nephrotic syndrome, type 22 skos:exactMatch OMIM:619155 nephrotic syndrome, type 22 semapv:UnspecifiedMatching MONDO:0030895 nephrotic syndrome, type 22 skos:exactMatch UMLS:C5436909 semapv:UnspecifiedMatching MONDO:0030896 chromosome 13q33-q34 deletion syndrome skos:exactMatch MEDGEN:1744234 semapv:UnspecifiedMatching MONDO:0030896 chromosome 13q33-q34 deletion syndrome skos:exactMatch OMIM:619148 chromosome 13q33-q34 deletion syndrome semapv:UnspecifiedMatching MONDO:0030896 chromosome 13q33-q34 deletion syndrome skos:exactMatch UMLS:C5436890 semapv:UnspecifiedMatching MONDO:0030897 Lessel-Kreienkamp syndrome skos:exactMatch MEDGEN:1762595 semapv:UnspecifiedMatching MONDO:0030897 Lessel-Kreienkamp syndrome skos:exactMatch OMIM:619149 lessel-kreienkamp syndrome semapv:UnspecifiedMatching MONDO:0030897 Lessel-Kreienkamp syndrome skos:exactMatch UMLS:C5436892 semapv:UnspecifiedMatching MONDO:0030898 immunodeficiency 76 skos:exactMatch MEDGEN:1781281 semapv:UnspecifiedMatching MONDO:0030898 immunodeficiency 76 skos:exactMatch OMIM:619164 immunodeficiency 76 semapv:UnspecifiedMatching MONDO:0030898 immunodeficiency 76 skos:exactMatch Orphanet:647804 Combined immunodeficiency due to FCHO1 deficiency semapv:UnspecifiedMatching MONDO:0030898 immunodeficiency 76 skos:exactMatch UMLS:C5543004 semapv:UnspecifiedMatching MONDO:0030899 oculocutaneous albinism type 8 skos:exactMatch MEDGEN:1754121 semapv:UnspecifiedMatching MONDO:0030899 oculocutaneous albinism type 8 skos:exactMatch OMIM:619165 oculocutaneous albinism, type 8 semapv:UnspecifiedMatching MONDO:0030899 oculocutaneous albinism type 8 skos:exactMatch Orphanet:597733 Oculocutaneous albinism type 8 semapv:UnspecifiedMatching MONDO:0030899 oculocutaneous albinism type 8 skos:exactMatch UMLS:C5436929 semapv:UnspecifiedMatching MONDO:0030900 intellectual developmental disorder with paroxysmal dyskinesia or seizures skos:exactMatch MEDGEN:1727046 semapv:UnspecifiedMatching MONDO:0030900 intellectual developmental disorder with paroxysmal dyskinesia or seizures skos:exactMatch OMIM:619150 intellectual developmental disorder with paroxysmal dyskinesia or seizures semapv:UnspecifiedMatching MONDO:0030900 intellectual developmental disorder with paroxysmal dyskinesia or seizures skos:exactMatch UMLS:C5436894 semapv:UnspecifiedMatching MONDO:0030902 mitochondrial complex I deficiency, nuclear type 36 skos:exactMatch MEDGEN:1773965 semapv:UnspecifiedMatching MONDO:0030902 mitochondrial complex I deficiency, nuclear type 36 skos:exactMatch OMIM:619170 mitochondrial complex 1 deficiency, nuclear type 36 semapv:UnspecifiedMatching MONDO:0030902 mitochondrial complex I deficiency, nuclear type 36 skos:exactMatch UMLS:C5436935 semapv:UnspecifiedMatching MONDO:0030903 Hermansky-Pudlak syndrome 11 skos:exactMatch MEDGEN:1727728 semapv:UnspecifiedMatching MONDO:0030903 Hermansky-Pudlak syndrome 11 skos:exactMatch OMIM:619172 hermansky-pudlak syndrome 11 semapv:UnspecifiedMatching MONDO:0030903 Hermansky-Pudlak syndrome 11 skos:exactMatch UMLS:C5436936 semapv:UnspecifiedMatching MONDO:0030905 hearing loss, autosomal recessive 117 skos:exactMatch MEDGEN:1747842 semapv:UnspecifiedMatching MONDO:0030905 hearing loss, autosomal recessive 117 skos:exactMatch OMIM:619174 deafness, autosomal recessive 117 semapv:UnspecifiedMatching MONDO:0030905 hearing loss, autosomal recessive 117 skos:exactMatch UMLS:C5436937 semapv:UnspecifiedMatching MONDO:0030906 Trichomonas tenax infectious disease skos:exactMatch DOID:0050270 Trichomonas tenax trichomoniasis semapv:UnspecifiedMatching MONDO:0030907 intellectual disability, X-linked 106 skos:exactMatch DOID:0080240 non-syndromic X-linked intellectual disability 106 semapv:UnspecifiedMatching MONDO:0030907 intellectual disability, X-linked 106 skos:exactMatch MEDGEN:1389156 semapv:UnspecifiedMatching MONDO:0030907 intellectual disability, X-linked 106 skos:exactMatch OMIM:300997 intellectual developmental disorder, X-linked 106 semapv:UnspecifiedMatching MONDO:0030907 intellectual disability, X-linked 106 skos:exactMatch UMLS:C4478379 semapv:UnspecifiedMatching MONDO:0030908 intellectual disability, X-linked, syndromic, 35 skos:exactMatch DOID:0080241 syndromic X-linked mental retardation 35 semapv:UnspecifiedMatching MONDO:0030908 intellectual disability, X-linked, syndromic, 35 skos:exactMatch MEDGEN:1392054 semapv:UnspecifiedMatching MONDO:0030908 intellectual disability, X-linked, syndromic, 35 skos:exactMatch OMIM:300998 intellectual developmental disorder, x-linked, syndromic 35 semapv:UnspecifiedMatching MONDO:0030908 intellectual disability, X-linked, syndromic, 35 skos:exactMatch UMLS:C4478383 semapv:UnspecifiedMatching MONDO:0030909 intellectual disability, X-linked, syndromic, Houge type skos:exactMatch DOID:0080242 syndromic X-linked mental retardation Hough type semapv:UnspecifiedMatching MONDO:0030909 intellectual disability, X-linked, syndromic, Houge type skos:exactMatch MEDGEN:1624740 semapv:UnspecifiedMatching MONDO:0030909 intellectual disability, X-linked, syndromic, Houge type skos:exactMatch OMIM:301008 intellectual developmental disorder, x-linked, syndromic, houge type semapv:UnspecifiedMatching MONDO:0030909 intellectual disability, X-linked, syndromic, Houge type skos:exactMatch UMLS:C4538788 semapv:UnspecifiedMatching MONDO:0030910 intellectual disability, autosomal dominant 45 skos:exactMatch DOID:0080236 autosomal dominant intellectual developmental disorder 45 semapv:UnspecifiedMatching MONDO:0030910 intellectual disability, autosomal dominant 45 skos:exactMatch MEDGEN:1616472 semapv:UnspecifiedMatching MONDO:0030910 intellectual disability, autosomal dominant 45 skos:exactMatch OMIM:617600 intellectual developmental disorder, autosomal dominant 45 semapv:UnspecifiedMatching MONDO:0030910 intellectual disability, autosomal dominant 45 skos:exactMatch UMLS:C4539848 semapv:UnspecifiedMatching MONDO:0030911 intellectual disability, autosomal dominant 46 skos:exactMatch DOID:0080237 autosomal dominant intellectual developmental disorder 46 semapv:UnspecifiedMatching MONDO:0030911 intellectual disability, autosomal dominant 46 skos:exactMatch MEDGEN:1618560 semapv:UnspecifiedMatching MONDO:0030911 intellectual disability, autosomal dominant 46 skos:exactMatch OMIM:617601 intellectual developmental disorder, autosomal dominant 46 semapv:UnspecifiedMatching MONDO:0030911 intellectual disability, autosomal dominant 46 skos:exactMatch UMLS:C4539851 semapv:UnspecifiedMatching MONDO:0030912 intellectual disability, autosomal dominant 47 skos:exactMatch DOID:0080238 autosomal dominant intellectual developmental disorder 47 semapv:UnspecifiedMatching MONDO:0030912 intellectual disability, autosomal dominant 47 skos:exactMatch MEDGEN:1622196 semapv:UnspecifiedMatching MONDO:0030912 intellectual disability, autosomal dominant 47 skos:exactMatch OMIM:617635 intellectual developmental disorder, autosomal dominant 47 semapv:UnspecifiedMatching MONDO:0030912 intellectual disability, autosomal dominant 47 skos:exactMatch Orphanet:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome semapv:UnspecifiedMatching MONDO:0030912 intellectual disability, autosomal dominant 47 skos:exactMatch UMLS:C4539951 semapv:UnspecifiedMatching MONDO:0030913 intellectual disability, autosomal dominant 48 skos:exactMatch DOID:0080235 autosomal dominant intellectual developmental disorder 48 semapv:UnspecifiedMatching MONDO:0030913 intellectual disability, autosomal dominant 48 skos:exactMatch MEDGEN:1619532 semapv:UnspecifiedMatching MONDO:0030913 intellectual disability, autosomal dominant 48 skos:exactMatch OMIM:617751 intellectual developmental disorder, autosomal dominant 48 semapv:UnspecifiedMatching MONDO:0030913 intellectual disability, autosomal dominant 48 skos:exactMatch Orphanet:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom semapv:UnspecifiedMatching MONDO:0030913 intellectual disability, autosomal dominant 48 skos:exactMatch UMLS:C4540321 semapv:UnspecifiedMatching MONDO:0030914 Clark-Baraitser syndrome skos:exactMatch DOID:0080234 Clark-Baraitser syndrome semapv:UnspecifiedMatching MONDO:0030914 Clark-Baraitser syndrome skos:exactMatch MEDGEN:443983 semapv:UnspecifiedMatching MONDO:0030914 Clark-Baraitser syndrome skos:exactMatch OMIM:617752 clark-baraitser syndrome semapv:UnspecifiedMatching MONDO:0030914 Clark-Baraitser syndrome skos:exactMatch Orphanet:600731 Clark-Baraitser syndrome semapv:UnspecifiedMatching MONDO:0030914 Clark-Baraitser syndrome skos:exactMatch UMLS:C2931130 semapv:UnspecifiedMatching MONDO:0030914 Clark-Baraitser syndrome skos:exactMatch mesh:C536208 semapv:UnspecifiedMatching MONDO:0030915 intellectual disability, autosomal recessive 61 skos:exactMatch DOID:0080239 autosomal recessive intellectual developmental disorder 61 semapv:UnspecifiedMatching MONDO:0030915 intellectual disability, autosomal recessive 61 skos:exactMatch MEDGEN:1622296 semapv:UnspecifiedMatching MONDO:0030915 intellectual disability, autosomal recessive 61 skos:exactMatch OMIM:617773 intellectual developmental disorder, autosomal recessive 61 semapv:UnspecifiedMatching MONDO:0030915 intellectual disability, autosomal recessive 61 skos:exactMatch UMLS:C4540424 semapv:UnspecifiedMatching MONDO:0030916 intellectual disability, autosomal dominant 50 skos:exactMatch DOID:0080233 autosomal dominant intellectual developmental disorder 50 semapv:UnspecifiedMatching MONDO:0030916 intellectual disability, autosomal dominant 50 skos:exactMatch MEDGEN:1616989 semapv:UnspecifiedMatching MONDO:0030916 intellectual disability, autosomal dominant 50 skos:exactMatch OMIM:617787 intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities semapv:UnspecifiedMatching MONDO:0030916 intellectual disability, autosomal dominant 50 skos:exactMatch UMLS:C4540470 semapv:UnspecifiedMatching MONDO:0030917 intellectual disability, autosomal dominant 51 skos:exactMatch DOID:0080232 autosomal dominant intellectual developmental disorder 51 semapv:UnspecifiedMatching MONDO:0030917 intellectual disability, autosomal dominant 51 skos:exactMatch MEDGEN:1625009 semapv:UnspecifiedMatching MONDO:0030917 intellectual disability, autosomal dominant 51 skos:exactMatch OMIM:617788 intellectual developmental disorder, autosomal dominant 51 semapv:UnspecifiedMatching MONDO:0030917 intellectual disability, autosomal dominant 51 skos:exactMatch Orphanet:684226 Intellectual disability-hypotonia-facial dysmorphism-macrocephaly syndrome semapv:UnspecifiedMatching MONDO:0030917 intellectual disability, autosomal dominant 51 skos:exactMatch UMLS:C4540474 semapv:UnspecifiedMatching MONDO:0030918 intellectual disability, autosomal dominant 52 skos:exactMatch DOID:0080231 autosomal dominant intellectual developmental disorder 52 semapv:UnspecifiedMatching MONDO:0030918 intellectual disability, autosomal dominant 52 skos:exactMatch EFO:0009152 semapv:UnspecifiedMatching MONDO:0030918 intellectual disability, autosomal dominant 52 skos:exactMatch MEDGEN:1615839 semapv:UnspecifiedMatching MONDO:0030918 intellectual disability, autosomal dominant 52 skos:exactMatch OMIM:617796 intellectual developmental disorder, autosomal dominant 52 semapv:UnspecifiedMatching MONDO:0030918 intellectual disability, autosomal dominant 52 skos:exactMatch UMLS:C4540478 semapv:UnspecifiedMatching MONDO:0030919 intellectual disability, autosomal dominant 53 skos:exactMatch DOID:0080228 autosomal dominant intellectual developmental disorder 53 semapv:UnspecifiedMatching MONDO:0030919 intellectual disability, autosomal dominant 53 skos:exactMatch EFO:0009165 semapv:UnspecifiedMatching MONDO:0030919 intellectual disability, autosomal dominant 53 skos:exactMatch MEDGEN:1623344 semapv:UnspecifiedMatching MONDO:0030919 intellectual disability, autosomal dominant 53 skos:exactMatch OMIM:617798 intellectual developmental disorder, autosomal dominant 53 semapv:UnspecifiedMatching MONDO:0030919 intellectual disability, autosomal dominant 53 skos:exactMatch UMLS:C4540481 semapv:UnspecifiedMatching MONDO:0030920 intellectual disability, autosomal dominant 54 skos:exactMatch DOID:0080230 autosomal dominant intellectual developmental disorder 54 semapv:UnspecifiedMatching MONDO:0030920 intellectual disability, autosomal dominant 54 skos:exactMatch MEDGEN:1614787 semapv:UnspecifiedMatching MONDO:0030920 intellectual disability, autosomal dominant 54 skos:exactMatch OMIM:617799 intellectual developmental disorder, autosomal dominant 54 semapv:UnspecifiedMatching MONDO:0030920 intellectual disability, autosomal dominant 54 skos:exactMatch UMLS:C4540484 semapv:UnspecifiedMatching MONDO:0030921 intellectual disability, autosomal dominant 55, with seizures skos:exactMatch DOID:0080227 autosomal dominant intellectual developmental disorder 55 semapv:UnspecifiedMatching MONDO:0030921 intellectual disability, autosomal dominant 55, with seizures skos:exactMatch MEDGEN:1635938 semapv:UnspecifiedMatching MONDO:0030921 intellectual disability, autosomal dominant 55, with seizures skos:exactMatch OMIM:617831 intellectual developmental disorder, autosomal dominant 55, with seizures semapv:UnspecifiedMatching MONDO:0030921 intellectual disability, autosomal dominant 55, with seizures skos:exactMatch UMLS:C4693371 semapv:UnspecifiedMatching MONDO:0030922 intellectual disability, autosomal dominant 56 skos:exactMatch DOID:0080226 autosomal dominant intellectual developmental disorder 56 semapv:UnspecifiedMatching MONDO:0030922 intellectual disability, autosomal dominant 56 skos:exactMatch MEDGEN:1638835 semapv:UnspecifiedMatching MONDO:0030922 intellectual disability, autosomal dominant 56 skos:exactMatch OMIM:617854 intellectual developmental disorder, autosomal dominant 56 semapv:UnspecifiedMatching MONDO:0030922 intellectual disability, autosomal dominant 56 skos:exactMatch UMLS:C4693389 semapv:UnspecifiedMatching MONDO:0030924 proteasome-associated autoinflammatory syndrome 5 skos:exactMatch DOID:0060919 proteosome-associated autoinflammatory syndrome 5 semapv:UnspecifiedMatching MONDO:0030924 proteasome-associated autoinflammatory syndrome 5 skos:exactMatch MEDGEN:1779962 semapv:UnspecifiedMatching MONDO:0030924 proteasome-associated autoinflammatory syndrome 5 skos:exactMatch OMIM:619175 proteasome-associated autoinflammatory syndrome 5 semapv:UnspecifiedMatching MONDO:0030924 proteasome-associated autoinflammatory syndrome 5 skos:exactMatch UMLS:C5543027 semapv:UnspecifiedMatching MONDO:0030925 oocyte maturation defect 10 skos:exactMatch MEDGEN:1766720 semapv:UnspecifiedMatching MONDO:0030925 oocyte maturation defect 10 skos:exactMatch OMIM:619176 oocyte/zygote/embryo maturation arrest 10 semapv:UnspecifiedMatching MONDO:0030925 oocyte maturation defect 10 skos:exactMatch UMLS:C5436938 semapv:UnspecifiedMatching MONDO:0030926 spermatogenic failure 51 skos:exactMatch DOID:0112273 spermatogenic failure 51 semapv:UnspecifiedMatching MONDO:0030926 spermatogenic failure 51 skos:exactMatch MEDGEN:1780365 semapv:UnspecifiedMatching MONDO:0030926 spermatogenic failure 51 skos:exactMatch OMIM:619177 spermatogenic failure 51 semapv:UnspecifiedMatching MONDO:0030926 spermatogenic failure 51 skos:exactMatch UMLS:C5543033 semapv:UnspecifiedMatching MONDO:0030927 myofibrillar myopathy 11 skos:exactMatch DOID:0081338 myofibrillar myopathy 11 semapv:UnspecifiedMatching MONDO:0030927 myofibrillar myopathy 11 skos:exactMatch MEDGEN:1782465 semapv:UnspecifiedMatching MONDO:0030927 myofibrillar myopathy 11 skos:exactMatch OMIM:619178 myopathy, myofibrillar, 11 semapv:UnspecifiedMatching MONDO:0030927 myofibrillar myopathy 11 skos:exactMatch UMLS:C5543038 semapv:UnspecifiedMatching MONDO:0030928 microcephaly 26, primary, autosomal dominant skos:exactMatch DOID:0051037 autosomal dominant primary microcephaly 26 semapv:UnspecifiedMatching MONDO:0030928 microcephaly 26, primary, autosomal dominant skos:exactMatch MEDGEN:1779629 semapv:UnspecifiedMatching MONDO:0030928 microcephaly 26, primary, autosomal dominant skos:exactMatch OMIM:619179 microcephaly 26, primary, autosomal dominant semapv:UnspecifiedMatching MONDO:0030928 microcephaly 26, primary, autosomal dominant skos:exactMatch UMLS:C5543048 semapv:UnspecifiedMatching MONDO:0030929 microcephaly 27, primary, autosomal dominant skos:exactMatch DOID:0051038 autosomal dominant primary microcephaly 27 semapv:UnspecifiedMatching MONDO:0030929 microcephaly 27, primary, autosomal dominant skos:exactMatch MEDGEN:1783457 semapv:UnspecifiedMatching MONDO:0030929 microcephaly 27, primary, autosomal dominant skos:exactMatch OMIM:619180 microcephaly 27, primary, autosomal dominant semapv:UnspecifiedMatching MONDO:0030929 microcephaly 27, primary, autosomal dominant skos:exactMatch UMLS:C5543051 semapv:UnspecifiedMatching MONDO:0030930 neurodevelopmental disorder with or without early-onset generalized epilepsy skos:exactMatch MEDGEN:1737097 semapv:UnspecifiedMatching MONDO:0030930 neurodevelopmental disorder with or without early-onset generalized epilepsy skos:exactMatch OMIM:619157 neurodevelopmental disorder with or without early-onset generalized epilepsy semapv:UnspecifiedMatching MONDO:0030930 neurodevelopmental disorder with or without early-onset generalized epilepsy skos:exactMatch UMLS:C5436914 semapv:UnspecifiedMatching MONDO:0030931 proteasome-associated autoinflammatory syndrome 4 skos:exactMatch DOID:0060915 proteosome-associated autoinflammatory syndrome 4 semapv:UnspecifiedMatching MONDO:0030931 proteasome-associated autoinflammatory syndrome 4 skos:exactMatch MEDGEN:1780127 semapv:UnspecifiedMatching MONDO:0030931 proteasome-associated autoinflammatory syndrome 4 skos:exactMatch OMIM:619183 proteasome-associated autoinflammatory syndrome 4 semapv:UnspecifiedMatching MONDO:0030931 proteasome-associated autoinflammatory syndrome 4 skos:exactMatch UMLS:C5543053 semapv:UnspecifiedMatching MONDO:0030933 Joubert syndrome 37 skos:exactMatch MEDGEN:1786742 semapv:UnspecifiedMatching MONDO:0030933 Joubert syndrome 37 skos:exactMatch OMIM:619185 joubert syndrome 37 semapv:UnspecifiedMatching MONDO:0030933 Joubert syndrome 37 skos:exactMatch UMLS:C5543064 semapv:UnspecifiedMatching MONDO:0030934 intellectual developmental disorder, autosomal dominant 64 skos:exactMatch DOID:0061037 autosomal dominant intellectual developmental disorder 64 semapv:UnspecifiedMatching MONDO:0030934 intellectual developmental disorder, autosomal dominant 64 skos:exactMatch MEDGEN:1784554 semapv:UnspecifiedMatching MONDO:0030934 intellectual developmental disorder, autosomal dominant 64 skos:exactMatch OMIM:619188 intellectual developmental disorder, autosomal dominant 64 semapv:UnspecifiedMatching MONDO:0030934 intellectual developmental disorder, autosomal dominant 64 skos:exactMatch UMLS:C5543067 semapv:UnspecifiedMatching MONDO:0030935 mitochondrial complex 2 deficiency, nuclear type 2 skos:exactMatch MEDGEN:1742371 semapv:UnspecifiedMatching MONDO:0030935 mitochondrial complex 2 deficiency, nuclear type 2 skos:exactMatch OMIM:619166 mitochondrial complex 2 deficiency, nuclear type 2 semapv:UnspecifiedMatching MONDO:0030935 mitochondrial complex 2 deficiency, nuclear type 2 skos:exactMatch UMLS:C5436933 semapv:UnspecifiedMatching MONDO:0030936 epilepsy, progressive myoclonic, 12 skos:exactMatch MEDGEN:1778162 semapv:UnspecifiedMatching MONDO:0030936 epilepsy, progressive myoclonic, 12 skos:exactMatch OMIM:619191 epilepsy, progressive myoclonic, 12 semapv:UnspecifiedMatching MONDO:0030936 epilepsy, progressive myoclonic, 12 skos:exactMatch UMLS:C5543069 semapv:UnspecifiedMatching MONDO:0030937 mitochondrial complex 2 deficiency, nuclear type 3 skos:exactMatch MEDGEN:1751884 semapv:UnspecifiedMatching MONDO:0030937 mitochondrial complex 2 deficiency, nuclear type 3 skos:exactMatch OMIM:619167 mitochondrial complex 2 deficiency, nuclear type 3 semapv:UnspecifiedMatching MONDO:0030937 mitochondrial complex 2 deficiency, nuclear type 3 skos:exactMatch UMLS:C5436934 semapv:UnspecifiedMatching MONDO:0030938 spermatogenic failure 52 skos:exactMatch DOID:0112270 spermatogenic failure 52 semapv:UnspecifiedMatching MONDO:0030938 spermatogenic failure 52 skos:exactMatch MEDGEN:1785685 semapv:UnspecifiedMatching MONDO:0030938 spermatogenic failure 52 skos:exactMatch OMIM:619202 spermatogenic failure 52 semapv:UnspecifiedMatching MONDO:0030938 spermatogenic failure 52 skos:exactMatch UMLS:C5543094 semapv:UnspecifiedMatching MONDO:0030939 premature ovarian failure 18 skos:exactMatch DOID:0112269 primary ovarian insufficiency 18 semapv:UnspecifiedMatching MONDO:0030939 premature ovarian failure 18 skos:exactMatch MEDGEN:1785989 semapv:UnspecifiedMatching MONDO:0030939 premature ovarian failure 18 skos:exactMatch OMIM:619203 premature ovarian failure 18 semapv:UnspecifiedMatching MONDO:0030939 premature ovarian failure 18 skos:exactMatch UMLS:C5543095 semapv:UnspecifiedMatching MONDO:0030941 erythrokeratodermia variabilis et progressiva 7 skos:exactMatch MEDGEN:1780408 semapv:UnspecifiedMatching MONDO:0030941 erythrokeratodermia variabilis et progressiva 7 skos:exactMatch OMIM:619209 erythrokeratodermia variabilis et progressiva 7 semapv:UnspecifiedMatching MONDO:0030941 erythrokeratodermia variabilis et progressiva 7 skos:exactMatch UMLS:C5543106 semapv:UnspecifiedMatching MONDO:0030947 neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities skos:exactMatch DOID:0061189 neuronal ceroid lipofuscinosis 15 semapv:UnspecifiedMatching MONDO:0030947 neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities skos:exactMatch MEDGEN:1781967 semapv:UnspecifiedMatching MONDO:0030947 neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities skos:exactMatch OMIM:619173 ceroid lipofuscinosis, neuronal, 15 semapv:UnspecifiedMatching MONDO:0030947 neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities skos:exactMatch Orphanet:610573 CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome semapv:UnspecifiedMatching MONDO:0030947 neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities skos:exactMatch UMLS:C5543020 semapv:UnspecifiedMatching MONDO:0030953 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 skos:exactMatch DOID:0112358 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 semapv:UnspecifiedMatching MONDO:0030953 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 skos:exactMatch MEDGEN:1782253 semapv:UnspecifiedMatching MONDO:0030953 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 skos:exactMatch OMIM:619184 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 semapv:UnspecifiedMatching MONDO:0030953 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 skos:exactMatch UMLS:C5543057 semapv:UnspecifiedMatching MONDO:0030957 developmental and epileptic encephalopathy 103 skos:exactMatch DOID:0070389 developmental and epileptic encephalopathy 103 semapv:UnspecifiedMatching MONDO:0030957 developmental and epileptic encephalopathy 103 skos:exactMatch MEDGEN:1809962 semapv:UnspecifiedMatching MONDO:0030957 developmental and epileptic encephalopathy 103 skos:exactMatch OMIM:619913 developmental and epileptic encephalopathy 103 semapv:UnspecifiedMatching MONDO:0030957 developmental and epileptic encephalopathy 103 skos:exactMatch UMLS:C5677002 semapv:UnspecifiedMatching MONDO:0030958 dystonia 35, childhood-onset skos:exactMatch DOID:0060955 dystonia 35, childhood-onset semapv:UnspecifiedMatching MONDO:0030958 dystonia 35, childhood-onset skos:exactMatch MEDGEN:1801185 semapv:UnspecifiedMatching MONDO:0030958 dystonia 35, childhood-onset skos:exactMatch OMIM:619921 dystonia 35, childhood-onset semapv:UnspecifiedMatching MONDO:0030958 dystonia 35, childhood-onset skos:exactMatch UMLS:C5677003 semapv:UnspecifiedMatching MONDO:0030961 Olmsted syndrome 2 skos:exactMatch MEDGEN:1779902 semapv:UnspecifiedMatching MONDO:0030961 Olmsted syndrome 2 skos:exactMatch OMIM:619208 olmsted syndrome 2 semapv:UnspecifiedMatching MONDO:0030961 Olmsted syndrome 2 skos:exactMatch UMLS:C5543096 semapv:UnspecifiedMatching MONDO:0030962 nephrotic syndrome, type 23 skos:exactMatch DOID:0112266 nephrotic syndrome type 23 semapv:UnspecifiedMatching MONDO:0030962 nephrotic syndrome, type 23 skos:exactMatch MEDGEN:1787011 semapv:UnspecifiedMatching MONDO:0030962 nephrotic syndrome, type 23 skos:exactMatch OMIM:619201 nephrotic syndrome, type 23 semapv:UnspecifiedMatching MONDO:0030962 nephrotic syndrome, type 23 skos:exactMatch UMLS:C5543092 semapv:UnspecifiedMatching MONDO:0030963 Li-Campeau syndrome skos:exactMatch MEDGEN:1788485 semapv:UnspecifiedMatching MONDO:0030963 Li-Campeau syndrome skos:exactMatch OMIM:619189 li-campeau syndrome semapv:UnspecifiedMatching MONDO:0030963 Li-Campeau syndrome skos:exactMatch UMLS:C5543068 semapv:UnspecifiedMatching MONDO:0030964 intellectual developmental disorder, autosomal dominant 67 skos:exactMatch DOID:0061040 autosomal dominant intellectual developmental disorder 67 semapv:UnspecifiedMatching MONDO:0030964 intellectual developmental disorder, autosomal dominant 67 skos:exactMatch MEDGEN:1805690 semapv:UnspecifiedMatching MONDO:0030964 intellectual developmental disorder, autosomal dominant 67 skos:exactMatch OMIM:619927 intellectual developmental disorder, autosomal dominant 67 semapv:UnspecifiedMatching MONDO:0030964 intellectual developmental disorder, autosomal dominant 67 skos:exactMatch UMLS:C5677006 semapv:UnspecifiedMatching MONDO:0030966 neurofacioskeletal syndrome with or without renal agenesis skos:exactMatch MEDGEN:1778926 semapv:UnspecifiedMatching MONDO:0030966 neurofacioskeletal syndrome with or without renal agenesis skos:exactMatch OMIM:619194 neurofacioskeletal syndrome with or without renal agenesis semapv:UnspecifiedMatching MONDO:0030966 neurofacioskeletal syndrome with or without renal agenesis skos:exactMatch UMLS:C5543070 semapv:UnspecifiedMatching MONDO:0030967 deafness, congenital, and adult-onset progressive leukoencephalopathy skos:exactMatch MEDGEN:1784506 semapv:UnspecifiedMatching MONDO:0030967 deafness, congenital, and adult-onset progressive leukoencephalopathy skos:exactMatch OMIM:619196 deafness, congenital, and adult-onset progressive leukoencephalopathy semapv:UnspecifiedMatching MONDO:0030967 deafness, congenital, and adult-onset progressive leukoencephalopathy skos:exactMatch UMLS:C5543087 semapv:UnspecifiedMatching MONDO:0030968 intellectual developmental disorder, autosomal recessive 76 skos:exactMatch DOID:0081235 autosomal recessive intellectual developmental disorder 76 semapv:UnspecifiedMatching MONDO:0030968 intellectual developmental disorder, autosomal recessive 76 skos:exactMatch MEDGEN:1808571 semapv:UnspecifiedMatching MONDO:0030968 intellectual developmental disorder, autosomal recessive 76 skos:exactMatch OMIM:619931 intellectual developmental disorder, autosomal recessive 76 semapv:UnspecifiedMatching MONDO:0030968 intellectual developmental disorder, autosomal recessive 76 skos:exactMatch UMLS:C5677007 semapv:UnspecifiedMatching MONDO:0030969 intellectual developmental disorder, autosomal dominant 68 skos:exactMatch DOID:0061041 autosomal dominant intellectual developmental disorder 68 semapv:UnspecifiedMatching MONDO:0030969 intellectual developmental disorder, autosomal dominant 68 skos:exactMatch MEDGEN:1802176 semapv:UnspecifiedMatching MONDO:0030969 intellectual developmental disorder, autosomal dominant 68 skos:exactMatch OMIM:619934 intellectual developmental disorder, autosomal dominant 68 semapv:UnspecifiedMatching MONDO:0030969 intellectual developmental disorder, autosomal dominant 68 skos:exactMatch UMLS:C5677008 semapv:UnspecifiedMatching MONDO:0030970 immunodeficiency 106, susceptibility to viral infections skos:exactMatch DOID:0061075 immunodeficiency 106 semapv:UnspecifiedMatching MONDO:0030970 immunodeficiency 106, susceptibility to viral infections skos:exactMatch MEDGEN:1804672 semapv:UnspecifiedMatching MONDO:0030970 immunodeficiency 106, susceptibility to viral infections skos:exactMatch OMIM:619935 immunodeficiency 106, susceptibility to viral infections semapv:UnspecifiedMatching MONDO:0030970 immunodeficiency 106, susceptibility to viral infections skos:exactMatch UMLS:C5677009 semapv:UnspecifiedMatching MONDO:0030971 immunodeficiency 78 with autoimmunity and developmental delay skos:exactMatch MEDGEN:1785772 semapv:UnspecifiedMatching MONDO:0030971 immunodeficiency 78 with autoimmunity and developmental delay skos:exactMatch OMIM:619220 immunodeficiency 78 with autoimmunity and developmental delay semapv:UnspecifiedMatching MONDO:0030971 immunodeficiency 78 with autoimmunity and developmental delay skos:exactMatch UMLS:C5543159 semapv:UnspecifiedMatching MONDO:0030972 spermatogenic failure 74 skos:exactMatch DOID:0070573 spermatogenic failure 74 semapv:UnspecifiedMatching MONDO:0030972 spermatogenic failure 74 skos:exactMatch MEDGEN:1812069 semapv:UnspecifiedMatching MONDO:0030972 spermatogenic failure 74 skos:exactMatch OMIM:619937 spermatogenic failure 74 semapv:UnspecifiedMatching MONDO:0030972 spermatogenic failure 74 skos:exactMatch UMLS:C5677010 semapv:UnspecifiedMatching MONDO:0030973 immunodeficiency 77 skos:exactMatch MEDGEN:1788976 semapv:UnspecifiedMatching MONDO:0030973 immunodeficiency 77 skos:exactMatch OMIM:619223 immunodeficiency 77 semapv:UnspecifiedMatching MONDO:0030973 immunodeficiency 77 skos:exactMatch UMLS:C5543173 semapv:UnspecifiedMatching MONDO:0030974 mitochondrial complex 2 deficiency, nuclear type 4 skos:exactMatch MEDGEN:1782861 semapv:UnspecifiedMatching MONDO:0030974 mitochondrial complex 2 deficiency, nuclear type 4 skos:exactMatch OMIM:619224 mitochondrial complex 2 deficiency, nuclear type 4 semapv:UnspecifiedMatching MONDO:0030974 mitochondrial complex 2 deficiency, nuclear type 4 skos:exactMatch UMLS:C5543176 semapv:UnspecifiedMatching MONDO:0030975 premature ovarian failure 20 skos:exactMatch MEDGEN:1808256 semapv:UnspecifiedMatching MONDO:0030975 premature ovarian failure 20 skos:exactMatch OMIM:619938 premature ovarian failure 20 semapv:UnspecifiedMatching MONDO:0030975 premature ovarian failure 20 skos:exactMatch UMLS:C5677011 semapv:UnspecifiedMatching MONDO:0030976 oculomotor-abducens synkinesis skos:exactMatch MEDGEN:1789067 semapv:UnspecifiedMatching MONDO:0030976 oculomotor-abducens synkinesis skos:exactMatch OMIM:619215 oculomotor-abducens synkinesis semapv:UnspecifiedMatching MONDO:0030976 oculomotor-abducens synkinesis skos:exactMatch UMLS:C5543116 semapv:UnspecifiedMatching MONDO:0030977 neuronopathy, distal hereditary motor, autosomal recessive 7 skos:exactMatch DOID:0081426 autosomal recessive distal hereditary motor neuronopathy 7 semapv:UnspecifiedMatching MONDO:0030977 neuronopathy, distal hereditary motor, autosomal recessive 7 skos:exactMatch MEDGEN:1786836 semapv:UnspecifiedMatching MONDO:0030977 neuronopathy, distal hereditary motor, autosomal recessive 7 skos:exactMatch OMIM:619216 neuronopathy, distal hereditary motor, autosomal recessive 7 semapv:UnspecifiedMatching MONDO:0030977 neuronopathy, distal hereditary motor, autosomal recessive 7 skos:exactMatch UMLS:C5543119 semapv:UnspecifiedMatching MONDO:0030978 ENDOVE syndrome, limb-only type skos:exactMatch MEDGEN:1787128 semapv:UnspecifiedMatching MONDO:0030978 ENDOVE syndrome, limb-only type skos:exactMatch OMIM:619217 endove syndrome, limb-only type semapv:UnspecifiedMatching MONDO:0030978 ENDOVE syndrome, limb-only type skos:exactMatch UMLS:C5543128 semapv:UnspecifiedMatching MONDO:0030979 ENDOVE syndrome, limb-brain type skos:exactMatch MEDGEN:1782954 semapv:UnspecifiedMatching MONDO:0030979 ENDOVE syndrome, limb-brain type skos:exactMatch OMIM:619218 endove syndrome, limb-brain type semapv:UnspecifiedMatching MONDO:0030979 ENDOVE syndrome, limb-brain type skos:exactMatch UMLS:C5543142 semapv:UnspecifiedMatching MONDO:0030981 immunodeficiency 79 skos:exactMatch DOID:0112277 immunodeficiency 79 semapv:UnspecifiedMatching MONDO:0030981 immunodeficiency 79 skos:exactMatch MEDGEN:1783683 semapv:UnspecifiedMatching MONDO:0030981 immunodeficiency 79 skos:exactMatch OMIM:619238 immunodeficiency 79 semapv:UnspecifiedMatching MONDO:0030981 immunodeficiency 79 skos:exactMatch UMLS:C5543220 semapv:UnspecifiedMatching MONDO:0030982 sulfide quinone oxidoreductase deficiency skos:exactMatch MEDGEN:1780603 semapv:UnspecifiedMatching MONDO:0030982 sulfide quinone oxidoreductase deficiency skos:exactMatch OMIM:619221 sulfide:quinone oxidoreductase deficiency semapv:UnspecifiedMatching MONDO:0030982 sulfide quinone oxidoreductase deficiency skos:exactMatch UMLS:C5543168 semapv:UnspecifiedMatching MONDO:0030983 Waardenburg syndrome, IIa 2F skos:exactMatch MEDGEN:1809587 semapv:UnspecifiedMatching MONDO:0030983 Waardenburg syndrome, IIa 2F skos:exactMatch OMIM:619947 waardenburg syndrome, type 2f semapv:UnspecifiedMatching MONDO:0030983 Waardenburg syndrome, IIa 2F skos:exactMatch UMLS:C5677013 semapv:UnspecifiedMatching MONDO:0030984 spermatogenic failure 75 skos:exactMatch DOID:0070574 spermatogenic failure 75 semapv:UnspecifiedMatching MONDO:0030984 spermatogenic failure 75 skos:exactMatch MEDGEN:1804291 semapv:UnspecifiedMatching MONDO:0030984 spermatogenic failure 75 skos:exactMatch OMIM:619949 spermatogenic failure 75 semapv:UnspecifiedMatching MONDO:0030984 spermatogenic failure 75 skos:exactMatch UMLS:C5677014 semapv:UnspecifiedMatching MONDO:0030985 premature ovarian failure 19 skos:exactMatch DOID:0112278 primary ovarian insufficiency 19 semapv:UnspecifiedMatching MONDO:0030985 premature ovarian failure 19 skos:exactMatch MEDGEN:1779702 semapv:UnspecifiedMatching MONDO:0030985 premature ovarian failure 19 skos:exactMatch OMIM:619245 premature ovarian failure 19 semapv:UnspecifiedMatching MONDO:0030985 premature ovarian failure 19 skos:exactMatch UMLS:C5543229 semapv:UnspecifiedMatching MONDO:0030986 blistering, acantholytic, of oral and laryngeal mucosa skos:exactMatch MEDGEN:1785588 semapv:UnspecifiedMatching MONDO:0030986 blistering, acantholytic, of oral and laryngeal mucosa skos:exactMatch OMIM:619226 blistering, acantholytic, of oral and laryngeal mucosa semapv:UnspecifiedMatching MONDO:0030986 blistering, acantholytic, of oral and laryngeal mucosa skos:exactMatch UMLS:C5543184 semapv:UnspecifiedMatching MONDO:0030987 vertebral, cardiac, tracheoesophageal, renal, and limb defects skos:exactMatch MEDGEN:1788069 semapv:UnspecifiedMatching MONDO:0030987 vertebral, cardiac, tracheoesophageal, renal, and limb defects skos:exactMatch OMIM:619227 vertebral, cardiac, tracheoesophageal, renal, and limb defects semapv:UnspecifiedMatching MONDO:0030987 vertebral, cardiac, tracheoesophageal, renal, and limb defects skos:exactMatch UMLS:C5543189 semapv:UnspecifiedMatching MONDO:0030988 developmental delay with dysmorphic facies and dental anomalies skos:exactMatch MEDGEN:1785587 semapv:UnspecifiedMatching MONDO:0030988 developmental delay with dysmorphic facies and dental anomalies skos:exactMatch OMIM:619228 developmental delay with dysmorphic facies and dental anomalies semapv:UnspecifiedMatching MONDO:0030988 developmental delay with dysmorphic facies and dental anomalies skos:exactMatch UMLS:C5543197 semapv:UnspecifiedMatching MONDO:0030989 spermatogenic failure 53 skos:exactMatch DOID:0112279 spermatogenic failure 53 semapv:UnspecifiedMatching MONDO:0030989 spermatogenic failure 53 skos:exactMatch MEDGEN:1787013 semapv:UnspecifiedMatching MONDO:0030989 spermatogenic failure 53 skos:exactMatch OMIM:619258 spermatogenic failure 53 semapv:UnspecifiedMatching MONDO:0030989 spermatogenic failure 53 skos:exactMatch UMLS:C5543253 semapv:UnspecifiedMatching MONDO:0030990 Kohlschutter-Tonz syndrome-like skos:exactMatch MEDGEN:1781649 semapv:UnspecifiedMatching MONDO:0030990 Kohlschutter-Tonz syndrome-like skos:exactMatch OMIM:619229 den hoed-de boer-voisin syndrome semapv:UnspecifiedMatching MONDO:0030990 Kohlschutter-Tonz syndrome-like skos:exactMatch UMLS:C5543202 semapv:UnspecifiedMatching MONDO:0030991 bile acid conjugation defect 1 skos:exactMatch DOID:0061180 familial hypercholanemia 3 semapv:UnspecifiedMatching MONDO:0030991 bile acid conjugation defect 1 skos:exactMatch MEDGEN:1780260 semapv:UnspecifiedMatching MONDO:0030991 bile acid conjugation defect 1 skos:exactMatch OMIM:619232 hypercholanemia, familial 3 semapv:UnspecifiedMatching MONDO:0030991 bile acid conjugation defect 1 skos:exactMatch UMLS:C5543203 semapv:UnspecifiedMatching MONDO:0030992 short stature, oligodontia, dysmorphic facies, and motor delay skos:exactMatch MEDGEN:1787876 semapv:UnspecifiedMatching MONDO:0030992 short stature, oligodontia, dysmorphic facies, and motor delay skos:exactMatch OMIM:619234 short stature, oligodontia, dysmorphic facies, and motor delay semapv:UnspecifiedMatching MONDO:0030992 short stature, oligodontia, dysmorphic facies, and motor delay skos:exactMatch UMLS:C5543206 semapv:UnspecifiedMatching MONDO:0030993 Tessadori-Van Haaften neurodevelopmental syndrome 3 skos:exactMatch MEDGEN:1824083 semapv:UnspecifiedMatching MONDO:0030993 Tessadori-Van Haaften neurodevelopmental syndrome 3 skos:exactMatch OMIM:619950 tessadori-bicknell-van haaften neurodevelopmental syndrome 3 semapv:UnspecifiedMatching MONDO:0030993 Tessadori-Van Haaften neurodevelopmental syndrome 3 skos:exactMatch UMLS:C5774310 semapv:UnspecifiedMatching MONDO:0030994 neurodevelopmental disorder with or without autism or seizures skos:exactMatch DOID:0061147 neurodevelopmental disorder with or without autism or seizures semapv:UnspecifiedMatching MONDO:0030994 neurodevelopmental disorder with or without autism or seizures skos:exactMatch MEDGEN:1784023 semapv:UnspecifiedMatching MONDO:0030994 neurodevelopmental disorder with or without autism or seizures skos:exactMatch OMIM:619239 neurodevelopmental disorder with or without autism or seizures semapv:UnspecifiedMatching MONDO:0030994 neurodevelopmental disorder with or without autism or seizures skos:exactMatch UMLS:C5543225 semapv:UnspecifiedMatching MONDO:0030995 global developmental delay with speech and behavioral abnormalities skos:exactMatch MEDGEN:1787991 semapv:UnspecifiedMatching MONDO:0030995 global developmental delay with speech and behavioral abnormalities skos:exactMatch OMIM:619243 global developmental delay with speech and behavioral abnormalities semapv:UnspecifiedMatching MONDO:0030995 global developmental delay with speech and behavioral abnormalities skos:exactMatch UMLS:C5543226 semapv:UnspecifiedMatching MONDO:0030996 bleeding disorder, platelet-type, 24 skos:exactMatch MEDGEN:1785711 semapv:UnspecifiedMatching MONDO:0030996 bleeding disorder, platelet-type, 24 skos:exactMatch OMIM:619271 bleeding disorder, platelet-type, 24 semapv:UnspecifiedMatching MONDO:0030996 bleeding disorder, platelet-type, 24 skos:exactMatch UMLS:C5543280 semapv:UnspecifiedMatching MONDO:0030997 mitochondrial complex I deficiency, nuclear type 37 skos:exactMatch MEDGEN:1783339 semapv:UnspecifiedMatching MONDO:0030997 mitochondrial complex I deficiency, nuclear type 37 skos:exactMatch OMIM:619272 mitochondrial complex 1 deficiency, nuclear type 37 semapv:UnspecifiedMatching MONDO:0030997 mitochondrial complex I deficiency, nuclear type 37 skos:exactMatch UMLS:C5543281 semapv:UnspecifiedMatching MONDO:0030998 hearing loss, autosomal dominant 80 skos:exactMatch DOID:0070602 autosomal dominant nonsyndromic deafness 80 semapv:UnspecifiedMatching MONDO:0030998 hearing loss, autosomal dominant 80 skos:exactMatch MEDGEN:1779667 semapv:UnspecifiedMatching MONDO:0030998 hearing loss, autosomal dominant 80 skos:exactMatch OMIM:619274 deafness, autosomal dominant 80 semapv:UnspecifiedMatching MONDO:0030998 hearing loss, autosomal dominant 80 skos:exactMatch UMLS:C5543289 semapv:UnspecifiedMatching MONDO:0030999 neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism skos:exactMatch MEDGEN:1786662 semapv:UnspecifiedMatching MONDO:0030999 neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism skos:exactMatch OMIM:619244 neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism semapv:UnspecifiedMatching MONDO:0030999 neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism skos:exactMatch UMLS:C5543228 semapv:UnspecifiedMatching MONDO:0031000 Tessadori-Van Haaften neurodevelopmental syndrome 4 skos:exactMatch MEDGEN:1804234 semapv:UnspecifiedMatching MONDO:0031000 Tessadori-Van Haaften neurodevelopmental syndrome 4 skos:exactMatch OMIM:619951 tessadori-bicknell-van haaften neurodevelopmental syndrome 4 semapv:UnspecifiedMatching MONDO:0031000 Tessadori-Van Haaften neurodevelopmental syndrome 4 skos:exactMatch UMLS:C5677016 semapv:UnspecifiedMatching MONDO:0031001 vitreoretinopathy with phalangeal epiphyseal dysplasia skos:exactMatch MEDGEN:343940 semapv:UnspecifiedMatching MONDO:0031001 vitreoretinopathy with phalangeal epiphyseal dysplasia skos:exactMatch OMIM:619248 vitreoretinopathy with phalangeal epiphyseal dysplasia semapv:UnspecifiedMatching MONDO:0031001 vitreoretinopathy with phalangeal epiphyseal dysplasia skos:exactMatch UMLS:C1852989 semapv:UnspecifiedMatching MONDO:0031001 vitreoretinopathy with phalangeal epiphyseal dysplasia skos:exactMatch mesh:C565179 semapv:UnspecifiedMatching MONDO:0031002 Baralle-Macken syndrome skos:exactMatch MEDGEN:1778777 semapv:UnspecifiedMatching MONDO:0031002 Baralle-Macken syndrome skos:exactMatch OMIM:619255 baralle-macken syndrome semapv:UnspecifiedMatching MONDO:0031002 Baralle-Macken syndrome skos:exactMatch UMLS:C5543241 semapv:UnspecifiedMatching MONDO:0031003 hypercholanemia, familial, 2 skos:exactMatch DOID:0061182 familial hypercholanemia 2 semapv:UnspecifiedMatching MONDO:0031003 hypercholanemia, familial, 2 skos:exactMatch MEDGEN:1780531 semapv:UnspecifiedMatching MONDO:0031003 hypercholanemia, familial, 2 skos:exactMatch OMIM:619256 hypercholanemia, familial, 2 semapv:UnspecifiedMatching MONDO:0031003 hypercholanemia, familial, 2 skos:exactMatch UMLS:C5543243 semapv:UnspecifiedMatching MONDO:0031004 obsolete genetic disorder of sex development of gynecological interest skos:exactMatch Orphanet:325665 Genetic difference of sex development of gynecological interest semapv:UnspecifiedMatching MONDO:0031006 neurodegeneration with ataxia and late-onset optic atrophy skos:exactMatch MEDGEN:1779901 semapv:UnspecifiedMatching MONDO:0031006 neurodegeneration with ataxia and late-onset optic atrophy skos:exactMatch OMIM:619259 neurodegeneration with ataxia and late-onset optic atrophy semapv:UnspecifiedMatching MONDO:0031006 neurodegeneration with ataxia and late-onset optic atrophy skos:exactMatch UMLS:C5543254 semapv:UnspecifiedMatching MONDO:0031007 spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis skos:exactMatch DOID:0112290 spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis semapv:UnspecifiedMatching MONDO:0031007 spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis skos:exactMatch MEDGEN:1780157 semapv:UnspecifiedMatching MONDO:0031007 spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis skos:exactMatch OMIM:619260 spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis semapv:UnspecifiedMatching MONDO:0031007 spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis skos:exactMatch Orphanet:611207 Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome semapv:UnspecifiedMatching MONDO:0031007 spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis skos:exactMatch UMLS:C5543257 semapv:UnspecifiedMatching MONDO:0031008 nephrotic syndrome, type 24 skos:exactMatch DOID:0061194 nephrotic syndrome type 24 semapv:UnspecifiedMatching MONDO:0031008 nephrotic syndrome, type 24 skos:exactMatch MEDGEN:1781068 semapv:UnspecifiedMatching MONDO:0031008 nephrotic syndrome, type 24 skos:exactMatch OMIM:619263 nephrotic syndrome, type 24 semapv:UnspecifiedMatching MONDO:0031008 nephrotic syndrome, type 24 skos:exactMatch Orphanet:567548 Idiopathic steroid-resistant nephrotic syndrome semapv:UnspecifiedMatching MONDO:0031008 nephrotic syndrome, type 24 skos:exactMatch UMLS:C5543267 semapv:UnspecifiedMatching MONDO:0031009 Glanzmann thrombasthenia 2 skos:exactMatch MEDGEN:1782592 semapv:UnspecifiedMatching MONDO:0031009 Glanzmann thrombasthenia 2 skos:exactMatch OMIM:619267 glanzmann thrombasthenia 2 semapv:UnspecifiedMatching MONDO:0031009 Glanzmann thrombasthenia 2 skos:exactMatch UMLS:C5543273 semapv:UnspecifiedMatching MONDO:0031010 odontochondrodysplasia 2 with hearing loss and diabetes skos:exactMatch MEDGEN:1782909 semapv:UnspecifiedMatching MONDO:0031010 odontochondrodysplasia 2 with hearing loss and diabetes skos:exactMatch OMIM:619269 odontochondrodysplasia 2 with hearing loss and diabetes semapv:UnspecifiedMatching MONDO:0031010 odontochondrodysplasia 2 with hearing loss and diabetes skos:exactMatch UMLS:C5543275 semapv:UnspecifiedMatching MONDO:0031011 neurodevelopmental disorder with dysmorphic facies and variable seizures skos:exactMatch MEDGEN:1784197 semapv:UnspecifiedMatching MONDO:0031011 neurodevelopmental disorder with dysmorphic facies and variable seizures skos:exactMatch OMIM:619264 neurodevelopmental disorder with dysmorphic facies and variable seizures semapv:UnspecifiedMatching MONDO:0031011 neurodevelopmental disorder with dysmorphic facies and variable seizures skos:exactMatch UMLS:C5543268 semapv:UnspecifiedMatching MONDO:0031012 autoimmune uveitis skos:exactMatch DOID:0040088 autoimmune uveitis semapv:UnspecifiedMatching MONDO:0031012 autoimmune uveitis skos:exactMatch MEDGEN:1843501 semapv:UnspecifiedMatching MONDO:0031012 autoimmune uveitis skos:exactMatch UMLS:C3888523 semapv:UnspecifiedMatching MONDO:0031013 autoimmune optic neuritis skos:exactMatch DOID:0040089 autoimmune optic neuritis semapv:UnspecifiedMatching MONDO:0031014 autoimmune gastritis skos:exactMatch DOID:0040090 autoimmune gastritis semapv:UnspecifiedMatching MONDO:0031014 autoimmune gastritis skos:exactMatch MEDGEN:854482 semapv:UnspecifiedMatching MONDO:0031014 autoimmune gastritis skos:exactMatch NCIT:C95752 Autoimmune Gastritis semapv:UnspecifiedMatching MONDO:0031014 autoimmune gastritis skos:exactMatch UMLS:C3887639 semapv:UnspecifiedMatching MONDO:0031014 autoimmune gastritis skos:exactMatch icd11.foundation:248006617 Autoimmune gastritis semapv:UnspecifiedMatching MONDO:0031016 obsolete genetic disorder of sex development skos:exactMatch Orphanet:325690 Genetic difference of sex development semapv:UnspecifiedMatching MONDO:0031019 spastic paraplegia 87, autosomal recessive skos:exactMatch DOID:0070456 hereditary spastic paraplegia 87 semapv:UnspecifiedMatching MONDO:0031019 spastic paraplegia 87, autosomal recessive skos:exactMatch MEDGEN:1813069 semapv:UnspecifiedMatching MONDO:0031019 spastic paraplegia 87, autosomal recessive skos:exactMatch OMIM:619966 spastic paraplegia 87, autosomal recessive semapv:UnspecifiedMatching MONDO:0031019 spastic paraplegia 87, autosomal recessive skos:exactMatch Orphanet:631088 Autosomal recessive spastic paraplegia type 87 semapv:UnspecifiedMatching MONDO:0031019 spastic paraplegia 87, autosomal recessive skos:exactMatch UMLS:C5774182 semapv:UnspecifiedMatching MONDO:0031021 developmental and epileptic encephalopathy 104 skos:exactMatch DOID:0070390 developmental and epileptic encephalopathy 104 semapv:UnspecifiedMatching MONDO:0031021 developmental and epileptic encephalopathy 104 skos:exactMatch MEDGEN:1823956 semapv:UnspecifiedMatching MONDO:0031021 developmental and epileptic encephalopathy 104 skos:exactMatch OMIM:619970 developmental and epileptic encephalopathy 104 semapv:UnspecifiedMatching MONDO:0031021 developmental and epileptic encephalopathy 104 skos:exactMatch UMLS:C5774183 semapv:UnspecifiedMatching MONDO:0031028 developmental and epileptic encephalopathy 105 with hypopituitarism skos:exactMatch DOID:0070391 developmental and epileptic encephalopathy 105 semapv:UnspecifiedMatching MONDO:0031028 developmental and epileptic encephalopathy 105 with hypopituitarism skos:exactMatch MEDGEN:1823963 semapv:UnspecifiedMatching MONDO:0031028 developmental and epileptic encephalopathy 105 with hypopituitarism skos:exactMatch OMIM:619983 developmental and epileptic encephalopathy 105 with hypopituitarism semapv:UnspecifiedMatching MONDO:0031028 developmental and epileptic encephalopathy 105 with hypopituitarism skos:exactMatch UMLS:C5774190 semapv:UnspecifiedMatching MONDO:0031030 immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection skos:exactMatch DOID:0061076 immunodeficiency 107 semapv:UnspecifiedMatching MONDO:0031030 immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection skos:exactMatch MEDGEN:1823965 semapv:UnspecifiedMatching MONDO:0031030 immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection skos:exactMatch OMIM:619986 immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection semapv:UnspecifiedMatching MONDO:0031030 immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection skos:exactMatch UMLS:C5774192 semapv:UnspecifiedMatching MONDO:0031031 intellectual developmental disorder, autosomal recessive 77 skos:exactMatch DOID:0081236 autosomal recessive intellectual developmental disorder 77 semapv:UnspecifiedMatching MONDO:0031031 intellectual developmental disorder, autosomal recessive 77 skos:exactMatch MEDGEN:1823966 semapv:UnspecifiedMatching MONDO:0031031 intellectual developmental disorder, autosomal recessive 77 skos:exactMatch OMIM:619988 intellectual developmental disorder, autosomal recessive 77 semapv:UnspecifiedMatching MONDO:0031031 intellectual developmental disorder, autosomal recessive 77 skos:exactMatch UMLS:C5774193 semapv:UnspecifiedMatching MONDO:0031037 famililal cerebral cavernous malformations skos:exactMatch MEDGEN:419031 semapv:UnspecifiedMatching MONDO:0031037 famililal cerebral cavernous malformations skos:exactMatch OMIMPS:116860 Cerebral cavernous malformations semapv:UnspecifiedMatching MONDO:0031037 famililal cerebral cavernous malformations skos:exactMatch Orphanet:221061 Familial cerebral cavernous malformation semapv:UnspecifiedMatching MONDO:0031037 famililal cerebral cavernous malformations skos:exactMatch SCTID:717003001 semapv:UnspecifiedMatching MONDO:0031037 famililal cerebral cavernous malformations skos:exactMatch UMLS:C2931263 semapv:UnspecifiedMatching MONDO:0031040 cholestasis, progressive familial intrahepatic, 12 skos:exactMatch MEDGEN:1824084 semapv:UnspecifiedMatching MONDO:0031040 cholestasis, progressive familial intrahepatic, 12 skos:exactMatch OMIM:620010 cholestasis, progressive familial intrahepatic, 12 semapv:UnspecifiedMatching MONDO:0031040 cholestasis, progressive familial intrahepatic, 12 skos:exactMatch UMLS:C5774311 semapv:UnspecifiedMatching MONDO:0031043 lymphatic malformation 12 skos:exactMatch DOID:0081030 central conducting lymphatic anomaly semapv:UnspecifiedMatching MONDO:0031043 lymphatic malformation 12 skos:exactMatch MEDGEN:1823976 semapv:UnspecifiedMatching MONDO:0031043 lymphatic malformation 12 skos:exactMatch OMIM:620014 lymphatic malformation 12 semapv:UnspecifiedMatching MONDO:0031043 lymphatic malformation 12 skos:exactMatch UMLS:C5774203 semapv:UnspecifiedMatching MONDO:0031044 advance sleep phase syndrome, familial, 4 skos:exactMatch DOID:0061006 advanced sleep phase syndrome 4 semapv:UnspecifiedMatching MONDO:0031044 advance sleep phase syndrome, familial, 4 skos:exactMatch MEDGEN:1823977 semapv:UnspecifiedMatching MONDO:0031044 advance sleep phase syndrome, familial, 4 skos:exactMatch OMIM:620015 advanced sleep phase syndrome, familial, 4 semapv:UnspecifiedMatching MONDO:0031044 advance sleep phase syndrome, familial, 4 skos:exactMatch UMLS:C5774204 semapv:UnspecifiedMatching MONDO:0031045 arthrogryposis, distal, IIa 11 skos:exactMatch MEDGEN:1823978 semapv:UnspecifiedMatching MONDO:0031045 arthrogryposis, distal, IIa 11 skos:exactMatch OMIM:620019 arthrogryposis, distal, type 11 semapv:UnspecifiedMatching MONDO:0031045 arthrogryposis, distal, IIa 11 skos:exactMatch UMLS:C5774205 semapv:UnspecifiedMatching MONDO:0031047 Stickler syndrome, type 6 skos:exactMatch MEDGEN:1823980 semapv:UnspecifiedMatching MONDO:0031047 Stickler syndrome, type 6 skos:exactMatch OMIM:620022 stickler syndrome, type 6 semapv:UnspecifiedMatching MONDO:0031047 Stickler syndrome, type 6 skos:exactMatch UMLS:C5774207 semapv:UnspecifiedMatching MONDO:0031052 developmental and epileptic encephalopathy 106 skos:exactMatch DOID:0070392 developmental and epileptic encephalopathy 106 semapv:UnspecifiedMatching MONDO:0031052 developmental and epileptic encephalopathy 106 skos:exactMatch MEDGEN:1823985 semapv:UnspecifiedMatching MONDO:0031052 developmental and epileptic encephalopathy 106 skos:exactMatch OMIM:620028 developmental and epileptic encephalopathy 106 semapv:UnspecifiedMatching MONDO:0031052 developmental and epileptic encephalopathy 106 skos:exactMatch UMLS:C5774212 semapv:UnspecifiedMatching MONDO:0031054 ciliary dyskinesia, primary, 48, without situs inversus skos:exactMatch MEDGEN:1823987 semapv:UnspecifiedMatching MONDO:0031054 ciliary dyskinesia, primary, 48, without situs inversus skos:exactMatch OMIM:620032 ciliary dyskinesia, primary, 48, without situs inversus semapv:UnspecifiedMatching MONDO:0031054 ciliary dyskinesia, primary, 48, without situs inversus skos:exactMatch UMLS:C5774214 semapv:UnspecifiedMatching MONDO:0031055 developmental and epileptic encephalopathy 107 skos:exactMatch DOID:0070393 developmental and epileptic encephalopathy 107 semapv:UnspecifiedMatching MONDO:0031055 developmental and epileptic encephalopathy 107 skos:exactMatch MEDGEN:1823988 semapv:UnspecifiedMatching MONDO:0031055 developmental and epileptic encephalopathy 107 skos:exactMatch OMIM:620033 developmental and epileptic encephalopathy 107 semapv:UnspecifiedMatching MONDO:0031055 developmental and epileptic encephalopathy 107 skos:exactMatch UMLS:C5774215 semapv:UnspecifiedMatching MONDO:0031057 dyskeratosis congenita, digenic skos:exactMatch DOID:0060984 digenic dyskeratosis congenita semapv:UnspecifiedMatching MONDO:0031057 dyskeratosis congenita, digenic skos:exactMatch MEDGEN:1823990 semapv:UnspecifiedMatching MONDO:0031057 dyskeratosis congenita, digenic skos:exactMatch OMIM:620040 dyskeratosis congenita, digenic semapv:UnspecifiedMatching MONDO:0031057 dyskeratosis congenita, digenic skos:exactMatch UMLS:C5774217 semapv:UnspecifiedMatching MONDO:0031060 microcephaly 29, primary, autosomal recessive skos:exactMatch DOID:0051040 primary autosomal recessive microcephaly 29 semapv:UnspecifiedMatching MONDO:0031060 microcephaly 29, primary, autosomal recessive skos:exactMatch MEDGEN:1823993 semapv:UnspecifiedMatching MONDO:0031060 microcephaly 29, primary, autosomal recessive skos:exactMatch OMIM:620047 microcephaly 29, primary, autosomal recessive semapv:UnspecifiedMatching MONDO:0031060 microcephaly 29, primary, autosomal recessive skos:exactMatch UMLS:C5774220 semapv:UnspecifiedMatching MONDO:0031061 nephrotic syndrome, IIa 26 skos:exactMatch DOID:0061193 nephrotic syndrome type 26 semapv:UnspecifiedMatching MONDO:0031061 nephrotic syndrome, IIa 26 skos:exactMatch MEDGEN:1823994 semapv:UnspecifiedMatching MONDO:0031061 nephrotic syndrome, IIa 26 skos:exactMatch OMIM:620049 nephrotic syndrome, type 26 semapv:UnspecifiedMatching MONDO:0031061 nephrotic syndrome, IIa 26 skos:exactMatch UMLS:C5774221 semapv:UnspecifiedMatching MONDO:0031062 polycystic kidney disease 7 skos:exactMatch DOID:0060952 polycystic kidney disease 7 semapv:UnspecifiedMatching MONDO:0031062 polycystic kidney disease 7 skos:exactMatch MEDGEN:1823995 semapv:UnspecifiedMatching MONDO:0031062 polycystic kidney disease 7 skos:exactMatch OMIM:620056 polycystic kidney disease 7 semapv:UnspecifiedMatching MONDO:0031062 polycystic kidney disease 7 skos:exactMatch UMLS:C5774222 semapv:UnspecifiedMatching MONDO:0031068 Charcot-Marie-Tooth disease, axonal, IIa 2II skos:exactMatch MEDGEN:1824000 semapv:UnspecifiedMatching MONDO:0031068 Charcot-Marie-Tooth disease, axonal, IIa 2II skos:exactMatch OMIM:620068 charcot-marie-tooth disease, axonal, type 2ii semapv:UnspecifiedMatching MONDO:0031068 Charcot-Marie-Tooth disease, axonal, IIa 2II skos:exactMatch UMLS:C5774227 semapv:UnspecifiedMatching MONDO:0031071 Diamond-Blackfan anemia 21 skos:exactMatch MEDGEN:1824003 semapv:UnspecifiedMatching MONDO:0031071 Diamond-Blackfan anemia 21 skos:exactMatch OMIM:620072 diamond-blackfan anemia 21 semapv:UnspecifiedMatching MONDO:0031071 Diamond-Blackfan anemia 21 skos:exactMatch UMLS:C5774230 semapv:UnspecifiedMatching MONDO:0031077 spermatogenic failure 76 skos:exactMatch DOID:0070575 spermatogenic failure 76 semapv:UnspecifiedMatching MONDO:0031077 spermatogenic failure 76 skos:exactMatch MEDGEN:1824009 semapv:UnspecifiedMatching MONDO:0031077 spermatogenic failure 76 skos:exactMatch OMIM:620084 spermatogenic failure 76 semapv:UnspecifiedMatching MONDO:0031077 spermatogenic failure 76 skos:exactMatch UMLS:C5774236 semapv:UnspecifiedMatching MONDO:0031083 spermatogenic failure 77 skos:exactMatch DOID:0070576 spermatogenic failure 77 semapv:UnspecifiedMatching MONDO:0031083 spermatogenic failure 77 skos:exactMatch MEDGEN:1824018 semapv:UnspecifiedMatching MONDO:0031083 spermatogenic failure 77 skos:exactMatch OMIM:620103 spermatogenic failure 77 semapv:UnspecifiedMatching MONDO:0031083 spermatogenic failure 77 skos:exactMatch UMLS:C5774245 semapv:UnspecifiedMatching MONDO:0031084 amelogenesis imperfecta, IIa 1K skos:exactMatch DOID:0060945 amelogenesis imperfecta type 1K semapv:UnspecifiedMatching MONDO:0031084 amelogenesis imperfecta, IIa 1K skos:exactMatch MEDGEN:1824019 semapv:UnspecifiedMatching MONDO:0031084 amelogenesis imperfecta, IIa 1K skos:exactMatch OMIM:620104 amelogenesis imperfecta, type 1k semapv:UnspecifiedMatching MONDO:0031084 amelogenesis imperfecta, IIa 1K skos:exactMatch UMLS:C5774246 semapv:UnspecifiedMatching MONDO:0031115 dyskinesia with orofacial involvement skos:exactMatch MEDGEN:1859334 semapv:UnspecifiedMatching MONDO:0031115 dyskinesia with orofacial involvement skos:exactMatch OMIMPS:606703 Dyskinesia with orofacial involvement semapv:UnspecifiedMatching MONDO:0031115 dyskinesia with orofacial involvement skos:exactMatch UMLS:C5908309 semapv:UnspecifiedMatching MONDO:0031166 macular dystrophy, retinal skos:exactMatch DOID:0070438 retinal macular dystrophy semapv:UnspecifiedMatching MONDO:0031166 macular dystrophy, retinal skos:exactMatch OMIMPS:136550 Macular dystrophy, retinal semapv:UnspecifiedMatching MONDO:0031169 odontochondrodysplasia skos:exactMatch MEDGEN:411198 semapv:UnspecifiedMatching MONDO:0031169 odontochondrodysplasia skos:exactMatch OMIMPS:184260 Odontochondrodysplasia semapv:UnspecifiedMatching MONDO:0031169 odontochondrodysplasia skos:exactMatch UMLS:C2745953 semapv:UnspecifiedMatching MONDO:0031199 inherited interstitial lung disease skos:exactMatch OMIMPS:619611 Interstitial lung disease semapv:UnspecifiedMatching MONDO:0031200 Bryant-Li-Bhoj neurodevelopmental syndrome skos:exactMatch DOID:0051010 Bryant-Li-Bhoj neurodevelopmental syndrome semapv:UnspecifiedMatching MONDO:0031200 Bryant-Li-Bhoj neurodevelopmental syndrome skos:exactMatch OMIMPS:619720 Bryant-Li-Bhoj neurodevelopmental syndrome semapv:UnspecifiedMatching MONDO:0031213 restrictive dermopathy skos:exactMatch DOID:0060762 restrictive dermopathy semapv:UnspecifiedMatching MONDO:0031213 restrictive dermopathy skos:exactMatch MEDGEN:98356 semapv:UnspecifiedMatching MONDO:0031213 restrictive dermopathy skos:exactMatch OMIMPS:275210 Restrictive dermopathy semapv:UnspecifiedMatching MONDO:0031213 restrictive dermopathy skos:exactMatch Orphanet:1662 Restrictive dermopathy semapv:UnspecifiedMatching MONDO:0031213 restrictive dermopathy skos:exactMatch UMLS:C0406585 semapv:UnspecifiedMatching MONDO:0031219 mismatch repair cancer syndrome skos:exactMatch DOID:0112182 mismatch repair cancer syndrome semapv:UnspecifiedMatching MONDO:0031219 mismatch repair cancer syndrome skos:exactMatch MEDGEN:78553 semapv:UnspecifiedMatching MONDO:0031219 mismatch repair cancer syndrome skos:exactMatch NCIT:C130202 Constitutional Mismatch Repair Deficiency Syndrome semapv:UnspecifiedMatching MONDO:0031219 mismatch repair cancer syndrome skos:exactMatch OMIMPS:276300 Mismatch repair cancer syndrome semapv:UnspecifiedMatching MONDO:0031219 mismatch repair cancer syndrome skos:exactMatch Orphanet:252202 Constitutional mismatch repair deficiency syndrome semapv:UnspecifiedMatching MONDO:0031219 mismatch repair cancer syndrome skos:exactMatch UMLS:C0265325 semapv:UnspecifiedMatching MONDO:0031230 mitochondrial complex II deficiency, nuclear type skos:exactMatch OMIMPS:252011 Mitochondrial complex II deficiency, nuclear type semapv:UnspecifiedMatching MONDO:0031240 familial panic disorder skos:exactMatch OMIMPS:167870 Panic disorder semapv:UnspecifiedMatching MONDO:0031257 high altitude pulmonary edema skos:exactMatch MEDGEN:137935 semapv:UnspecifiedMatching MONDO:0031257 high altitude pulmonary edema skos:exactMatch Orphanet:330012 High altitude pulmonary edema semapv:UnspecifiedMatching MONDO:0031257 high altitude pulmonary edema skos:exactMatch UMLS:C0340100 semapv:UnspecifiedMatching MONDO:0031280 Stuve-Wiedemann syndrome skos:exactMatch MEDGEN:167109 semapv:UnspecifiedMatching MONDO:0031280 Stuve-Wiedemann syndrome skos:exactMatch OMIMPS:601559 Stuve-Wiedemann syndrome semapv:UnspecifiedMatching MONDO:0031280 Stuve-Wiedemann syndrome skos:exactMatch UMLS:C0796176 semapv:UnspecifiedMatching MONDO:0031322 triopia skos:broadMatch ICD10CM:Q15.8 Other specified congenital malformations of eye semapv:UnspecifiedMatching MONDO:0031322 triopia skos:exactMatch MEDGEN:1836871 semapv:UnspecifiedMatching MONDO:0031322 triopia skos:exactMatch Orphanet:3374 Unilateral ocular duplication semapv:UnspecifiedMatching MONDO:0031322 triopia skos:exactMatch UMLS:C5816687 semapv:UnspecifiedMatching MONDO:0031323 cardiac valvular defect skos:exactMatch OMIMPS:212093 Cardiac valvular defect semapv:UnspecifiedMatching MONDO:0031329 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome skos:exactMatch DOID:0081072 craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome semapv:UnspecifiedMatching MONDO:0031329 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome skos:exactMatch OMIMPS:213980 Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome semapv:UnspecifiedMatching MONDO:0031332 Glanzmann thrombasthenia 1 skos:exactMatch DOID:2219 Glanzmann's thrombasthenia semapv:UnspecifiedMatching MONDO:0031332 Glanzmann thrombasthenia 1 skos:exactMatch NCIT:C61249 Glanzmann Thrombasthenia semapv:UnspecifiedMatching MONDO:0031332 Glanzmann thrombasthenia 1 skos:exactMatch OMIM:273800 glanzmann thrombasthenia 1 semapv:UnspecifiedMatching MONDO:0031332 Glanzmann thrombasthenia 1 skos:exactMatch SCTID:32942005 semapv:UnspecifiedMatching MONDO:0031332 Glanzmann thrombasthenia 1 skos:exactMatch mesh:D013915 semapv:UnspecifiedMatching MONDO:0031376 congenital disorder of deglycosylation skos:exactMatch DOID:0060991 congenital disorder of deglycosylation semapv:UnspecifiedMatching MONDO:0031376 congenital disorder of deglycosylation skos:exactMatch MEDGEN:815321 semapv:UnspecifiedMatching MONDO:0031376 congenital disorder of deglycosylation skos:exactMatch OMIMPS:615273 Congenital disorder of deglycosylation semapv:UnspecifiedMatching MONDO:0031376 congenital disorder of deglycosylation skos:exactMatch UMLS:C3808991 semapv:UnspecifiedMatching MONDO:0031384 autoinflammatory syndrome, familial, Behcet-like skos:exactMatch OMIMPS:616744 Autoinflammatory syndrome, familial, Behcet-like semapv:UnspecifiedMatching MONDO:0031386 cardioacrofacial dysplasia skos:exactMatch OMIMPS:619142 Cardioacrofacial dysplasia semapv:UnspecifiedMatching MONDO:0031400 Tessadori-Van-Haaften neurodevelopmental syndrome skos:exactMatch OMIMPS:619758 Tessadori-Van-Haaften neurodevelopmental syndrome semapv:UnspecifiedMatching MONDO:0031415 Carey-Fineman-Ziter syndrome skos:exactMatch MEDGEN:338115 semapv:UnspecifiedMatching MONDO:0031415 Carey-Fineman-Ziter syndrome skos:exactMatch OMIMPS:254940 Carey-Fineman-Ziter syndrome semapv:UnspecifiedMatching MONDO:0031415 Carey-Fineman-Ziter syndrome skos:exactMatch Orphanet:1358 Carey-Fineman-Ziter syndrome semapv:UnspecifiedMatching MONDO:0031415 Carey-Fineman-Ziter syndrome skos:exactMatch UMLS:C1850746 semapv:UnspecifiedMatching MONDO:0031415 Carey-Fineman-Ziter syndrome skos:exactMatch icd11.foundation:1784462638 Carey-Fineman-Ziter syndrome semapv:UnspecifiedMatching MONDO:0031421 Olmsted syndrome skos:exactMatch DOID:0112011 mutilating palmoplantar keratoderma with periorificial keratotic plaques semapv:UnspecifiedMatching MONDO:0031421 Olmsted syndrome skos:exactMatch MEDGEN:590661 semapv:UnspecifiedMatching MONDO:0031421 Olmsted syndrome skos:exactMatch OMIMPS:614594 Olmsted syndrome semapv:UnspecifiedMatching MONDO:0031421 Olmsted syndrome skos:exactMatch Orphanet:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques semapv:UnspecifiedMatching MONDO:0031421 Olmsted syndrome skos:exactMatch UMLS:C0406761 semapv:UnspecifiedMatching MONDO:0031422 familial mucolipidosis skos:exactMatch OMIMPS:256550 Mucolipidosis semapv:UnspecifiedMatching MONDO:0031432 thyroid hormone metabolism, abnormal skos:exactMatch MEDGEN:355288 semapv:UnspecifiedMatching MONDO:0031432 thyroid hormone metabolism, abnormal skos:exactMatch OMIMPS:609698 Thyroid hormone metabolism, abnormal semapv:UnspecifiedMatching MONDO:0031432 thyroid hormone metabolism, abnormal skos:exactMatch UMLS:C1864761 semapv:UnspecifiedMatching MONDO:0031439 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies skos:exactMatch OMIMPS:617877 Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies semapv:UnspecifiedMatching MONDO:0031446 hypercholanemia, familial 1 skos:exactMatch DOID:0061181 familial hypercholanemia 1 semapv:UnspecifiedMatching MONDO:0031446 hypercholanemia, familial 1 skos:exactMatch MEDGEN:1781366 semapv:UnspecifiedMatching MONDO:0031446 hypercholanemia, familial 1 skos:exactMatch OMIM:607748 hypercholanemia, familial 1 semapv:UnspecifiedMatching MONDO:0031446 hypercholanemia, familial 1 skos:exactMatch Orphanet:238475 Familial hypercholanemia semapv:UnspecifiedMatching MONDO:0031446 hypercholanemia, familial 1 skos:exactMatch SCTID:723360007 semapv:UnspecifiedMatching MONDO:0031446 hypercholanemia, familial 1 skos:exactMatch UMLS:C5542604 semapv:UnspecifiedMatching MONDO:0031446 hypercholanemia, familial 1 skos:exactMatch mesh:C564336 semapv:UnspecifiedMatching MONDO:0031447 macrothrombocytopenia, isolated skos:exactMatch OMIMPS:613112 Macrothrombocytopenia, isolated semapv:UnspecifiedMatching MONDO:0031481 microcephaly, epilepsy, and diabetes syndrome 1 skos:exactMatch OMIM:614231 microcephaly, epilepsy, and diabetes syndrome 1 semapv:UnspecifiedMatching MONDO:0031481 microcephaly, epilepsy, and diabetes syndrome 1 skos:exactMatch Orphanet:306558 Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome semapv:UnspecifiedMatching MONDO:0031520 familial severe combined immunodeficiency skos:exactMatch OMIMPS:601457 Severe combined immunodeficiency (select examples) semapv:UnspecifiedMatching MONDO:0031615 familial bent bone dysplasia syndrome skos:exactMatch OMIMPS:614592 Bent bone dysplasia syndrome semapv:UnspecifiedMatching MONDO:0031632 developmental delay with short stature, dysmorphic facial features, and sparse hair skos:exactMatch DOID:0070476 diphthamide deficiency syndrome semapv:UnspecifiedMatching MONDO:0031632 developmental delay with short stature, dysmorphic facial features, and sparse hair skos:exactMatch MEDGEN:934768 semapv:UnspecifiedMatching MONDO:0031632 developmental delay with short stature, dysmorphic facial features, and sparse hair skos:exactMatch OMIMPS:616901 Developmental delay with short stature, dysmorphic facial features, and sparse hair semapv:UnspecifiedMatching MONDO:0031632 developmental delay with short stature, dysmorphic facial features, and sparse hair skos:exactMatch UMLS:C4310801 semapv:UnspecifiedMatching MONDO:0031646 Braddock-Carey syndrome skos:exactMatch OMIMPS:619980 Braddock-Carey Syndrome semapv:UnspecifiedMatching MONDO:0031689 obsolete genetic progeroid syndrome skos:broadMatch ICD10CM:E34.8 Other specified endocrine disorders semapv:UnspecifiedMatching MONDO:0031689 obsolete genetic progeroid syndrome skos:exactMatch Orphanet:363245 Genetic progeroid syndrome semapv:UnspecifiedMatching MONDO:0031697 obsolete genetic intractable diarrhea of infancy skos:exactMatch Orphanet:363300 Genetic intractable diarrhea of infancy semapv:UnspecifiedMatching MONDO:0031698 obsolete genetic intestinal disease due to fat malabsorption skos:exactMatch Orphanet:363306 Genetic intestinal disease due to fat malabsorption semapv:UnspecifiedMatching MONDO:0031799 obsolete rare bone disease related to a common gene or pathway defect skos:exactMatch Orphanet:364803 Rare bone disease related to a common gene or pathway defect semapv:UnspecifiedMatching MONDO:0031949 obsolete genetic neurovascular malformation skos:exactMatch Orphanet:371436 Genetic neurovascular malformation semapv:UnspecifiedMatching MONDO:0031952 obsolete genetic syndromic esophageal malformation skos:exactMatch Orphanet:371445 Genetic syndromic esophageal malformation semapv:UnspecifiedMatching MONDO:0032011 obsolete biological anomaly skos:exactMatch Orphanet:377790 biological anomaly semapv:UnspecifiedMatching MONDO:0032013 obsolete clinical syndrome skos:exactMatch Orphanet:377792 clinical syndrome semapv:UnspecifiedMatching MONDO:0032014 obsolete particular clinical situation in a disease or syndrome skos:exactMatch Orphanet:377793 particular clinical situation in a disease or syndrome semapv:UnspecifiedMatching MONDO:0032221 obsolete rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism skos:exactMatch Orphanet:399846 Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism semapv:UnspecifiedMatching MONDO:0032485 intellectual developmental disorder 61 skos:exactMatch DOID:0061034 autosomal dominant intellectual developmental disorder 61 semapv:UnspecifiedMatching MONDO:0032485 intellectual developmental disorder 61 skos:exactMatch MEDGEN:1684867 semapv:UnspecifiedMatching MONDO:0032485 intellectual developmental disorder 61 skos:exactMatch OMIM:618009 intellectual developmental disorder, autosomal dominant 61 semapv:UnspecifiedMatching MONDO:0032485 intellectual developmental disorder 61 skos:exactMatch UMLS:C5231400 semapv:UnspecifiedMatching MONDO:0032526 spinocerebellar ataxia 48 skos:exactMatch DOID:0111746 cerebellar ataxia type 48 semapv:UnspecifiedMatching MONDO:0032526 spinocerebellar ataxia 48 skos:exactMatch MEDGEN:1648409 semapv:UnspecifiedMatching MONDO:0032526 spinocerebellar ataxia 48 skos:exactMatch OMIM:618093 spinocerebellar ataxia 48 semapv:UnspecifiedMatching MONDO:0032526 spinocerebellar ataxia 48 skos:exactMatch Orphanet:631103 Spinocerebellar ataxia type 48 semapv:UnspecifiedMatching MONDO:0032526 spinocerebellar ataxia 48 skos:exactMatch UMLS:C4748158 semapv:UnspecifiedMatching MONDO:0032564 hennekam lymphangiectasia-lymphedema syndrome 3 skos:exactMatch MEDGEN:1648368 semapv:UnspecifiedMatching MONDO:0032564 hennekam lymphangiectasia-lymphedema syndrome 3 skos:exactMatch OMIM:618154 hennekam lymphangiectasia-lymphedema syndrome 3 semapv:UnspecifiedMatching MONDO:0032564 hennekam lymphangiectasia-lymphedema syndrome 3 skos:exactMatch UMLS:C4748408 semapv:UnspecifiedMatching MONDO:0032565 ophthalmoplegia, external, with rib and vertebral anomalies skos:exactMatch MEDGEN:1648445 semapv:UnspecifiedMatching MONDO:0032565 ophthalmoplegia, external, with rib and vertebral anomalies skos:exactMatch OMIM:618155 ophthalmoplegia, external, with rib and vertebral anomalies semapv:UnspecifiedMatching MONDO:0032565 ophthalmoplegia, external, with rib and vertebral anomalies skos:exactMatch UMLS:C4748418 semapv:UnspecifiedMatching MONDO:0032566 squalene synthase deficiency skos:exactMatch MEDGEN:1648421 semapv:UnspecifiedMatching MONDO:0032566 squalene synthase deficiency skos:exactMatch OMIM:618156 squalene synthase deficiency semapv:UnspecifiedMatching MONDO:0032566 squalene synthase deficiency skos:exactMatch UMLS:C4748427 semapv:UnspecifiedMatching MONDO:0032567 isolated growth hormone deficiency, type 4 skos:exactMatch MEDGEN:1648300 semapv:UnspecifiedMatching MONDO:0032567 isolated growth hormone deficiency, type 4 skos:exactMatch OMIM:618157 isolated growth hormone deficiency, type 4 semapv:UnspecifiedMatching MONDO:0032567 isolated growth hormone deficiency, type 4 skos:exactMatch Orphanet:684247 Isolated growth hormone deficiency type IV semapv:UnspecifiedMatching MONDO:0032567 isolated growth hormone deficiency, type 4 skos:exactMatch UMLS:C4722273 semapv:UnspecifiedMatching MONDO:0032568 intellectual developmental disorder with macrocephaly, seizures, and speech delay skos:exactMatch MEDGEN:1648339 semapv:UnspecifiedMatching MONDO:0032568 intellectual developmental disorder with macrocephaly, seizures, and speech delay skos:exactMatch OMIM:618158 intellectual developmental disorder with macrocephaly, seizures, and speech delay semapv:UnspecifiedMatching MONDO:0032568 intellectual developmental disorder with macrocephaly, seizures, and speech delay skos:exactMatch UMLS:C4748428 semapv:UnspecifiedMatching MONDO:0032569 isolated growth hormone deficiency, type 5 skos:exactMatch DOID:0061016 combined or isolated pituitary growth hormone deficiency 7 semapv:UnspecifiedMatching MONDO:0032569 isolated growth hormone deficiency, type 5 skos:exactMatch MEDGEN:1648500 semapv:UnspecifiedMatching MONDO:0032569 isolated growth hormone deficiency, type 5 skos:exactMatch OMIM:618160 pituitary hormone deficiency, combined or isolated, 7 semapv:UnspecifiedMatching MONDO:0032569 isolated growth hormone deficiency, type 5 skos:exactMatch UMLS:C4748435 semapv:UnspecifiedMatching MONDO:0032570 Joubert syndrome 35 skos:exactMatch MEDGEN:1648453 semapv:UnspecifiedMatching MONDO:0032570 Joubert syndrome 35 skos:exactMatch OMIM:618161 joubert syndrome 35 semapv:UnspecifiedMatching MONDO:0032570 Joubert syndrome 35 skos:exactMatch UMLS:C4748442 semapv:UnspecifiedMatching MONDO:0032571 spondyloepimetaphyseal dysplasia, Krakow type skos:exactMatch MEDGEN:1648323 semapv:UnspecifiedMatching MONDO:0032571 spondyloepimetaphyseal dysplasia, Krakow type skos:exactMatch OMIM:618162 spondyloepimetaphyseal dysplasia, krakow type semapv:UnspecifiedMatching MONDO:0032571 spondyloepimetaphyseal dysplasia, Krakow type skos:exactMatch UMLS:C4748455 semapv:UnspecifiedMatching MONDO:0032572 cardiac, facial, and digital anomalies with developmental delay skos:exactMatch MEDGEN:1648330 semapv:UnspecifiedMatching MONDO:0032572 cardiac, facial, and digital anomalies with developmental delay skos:exactMatch MEDGEN:1809140 semapv:UnspecifiedMatching MONDO:0032572 cardiac, facial, and digital anomalies with developmental delay skos:exactMatch NCIT:C179868 Cardiac, Facial, and Digital Anomalies with Developmental Delay semapv:UnspecifiedMatching MONDO:0032572 cardiac, facial, and digital anomalies with developmental delay skos:exactMatch OMIM:618164 cardiac, facial, and digital anomalies with developmental delay semapv:UnspecifiedMatching MONDO:0032572 cardiac, facial, and digital anomalies with developmental delay skos:exactMatch Orphanet:592570 TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome semapv:UnspecifiedMatching MONDO:0032572 cardiac, facial, and digital anomalies with developmental delay skos:exactMatch UMLS:C4748484 semapv:UnspecifiedMatching MONDO:0032572 cardiac, facial, and digital anomalies with developmental delay skos:exactMatch UMLS:C5681633 semapv:UnspecifiedMatching MONDO:0032573 bone marrow failure syndrome 5 skos:exactMatch MEDGEN:1648380 semapv:UnspecifiedMatching MONDO:0032573 bone marrow failure syndrome 5 skos:exactMatch OMIM:618165 bone marrow failure syndrome 5 semapv:UnspecifiedMatching MONDO:0032573 bone marrow failure syndrome 5 skos:exactMatch UMLS:C4748488 semapv:UnspecifiedMatching MONDO:0032574 osteochondrodysplasia, brachydactyly, and overlapping malformed digits skos:exactMatch MEDGEN:1648332 semapv:UnspecifiedMatching MONDO:0032574 osteochondrodysplasia, brachydactyly, and overlapping malformed digits skos:exactMatch OMIM:618167 osteochondrodysplasia, brachydactyly, and overlapping malformed digits semapv:UnspecifiedMatching MONDO:0032574 osteochondrodysplasia, brachydactyly, and overlapping malformed digits skos:exactMatch UMLS:C4748496 semapv:UnspecifiedMatching MONDO:0032575 diarrhea 9 skos:exactMatch MEDGEN:1648425 semapv:UnspecifiedMatching MONDO:0032575 diarrhea 9 skos:exactMatch OMIM:618168 diarrhea 9 semapv:UnspecifiedMatching MONDO:0032575 diarrhea 9 skos:exactMatch UMLS:C4748517 semapv:UnspecifiedMatching MONDO:0032577 retinitis pigmentosa 83 skos:exactMatch DOID:0112140 retinitis pigmentosa 83 semapv:UnspecifiedMatching MONDO:0032577 retinitis pigmentosa 83 skos:exactMatch MEDGEN:1648404 semapv:UnspecifiedMatching MONDO:0032577 retinitis pigmentosa 83 skos:exactMatch OMIM:618173 retinitis pigmentosa 83 semapv:UnspecifiedMatching MONDO:0032577 retinitis pigmentosa 83 skos:exactMatch UMLS:C4748536 semapv:UnspecifiedMatching MONDO:0032578 cortical dysplasia, complex, with other brain malformations 9 skos:exactMatch DOID:0061138 complex cortical dysplasia with other brain malformations 9 semapv:UnspecifiedMatching MONDO:0032578 cortical dysplasia, complex, with other brain malformations 9 skos:exactMatch MEDGEN:1648399 semapv:UnspecifiedMatching MONDO:0032578 cortical dysplasia, complex, with other brain malformations 9 skos:exactMatch OMIM:618174 cortical dysplasia, complex, with other brain malformations 9 semapv:UnspecifiedMatching MONDO:0032578 cortical dysplasia, complex, with other brain malformations 9 skos:exactMatch UMLS:C4748540 semapv:UnspecifiedMatching MONDO:0032579 warburg-cinotti syndrome skos:exactMatch MEDGEN:1677486 semapv:UnspecifiedMatching MONDO:0032579 warburg-cinotti syndrome skos:exactMatch OMIM:618175 warburg-cinotti syndrome semapv:UnspecifiedMatching MONDO:0032579 warburg-cinotti syndrome skos:exactMatch UMLS:C5193019 semapv:UnspecifiedMatching MONDO:0032580 nephrotic syndrome, type 17 skos:exactMatch DOID:0080392 nephrotic syndrome type 17 semapv:UnspecifiedMatching MONDO:0032580 nephrotic syndrome, type 17 skos:exactMatch MEDGEN:1648294 semapv:UnspecifiedMatching MONDO:0032580 nephrotic syndrome, type 17 skos:exactMatch OMIM:618176 nephrotic syndrome, type 17 semapv:UnspecifiedMatching MONDO:0032580 nephrotic syndrome, type 17 skos:exactMatch UMLS:C4748545 semapv:UnspecifiedMatching MONDO:0032581 nephrotic syndrome, type 18 skos:exactMatch DOID:0080393 nephrotic syndrome type 18 semapv:UnspecifiedMatching MONDO:0032581 nephrotic syndrome, type 18 skos:exactMatch MEDGEN:1648464 semapv:UnspecifiedMatching MONDO:0032581 nephrotic syndrome, type 18 skos:exactMatch OMIM:618177 nephrotic syndrome, type 18 semapv:UnspecifiedMatching MONDO:0032581 nephrotic syndrome, type 18 skos:exactMatch UMLS:C4748549 semapv:UnspecifiedMatching MONDO:0032582 nephrotic syndrome, type 19 skos:exactMatch DOID:0080394 nephrotic syndrome type 19 semapv:UnspecifiedMatching MONDO:0032582 nephrotic syndrome, type 19 skos:exactMatch MEDGEN:1648305 semapv:UnspecifiedMatching MONDO:0032582 nephrotic syndrome, type 19 skos:exactMatch OMIM:618178 nephrotic syndrome, type 19 semapv:UnspecifiedMatching MONDO:0032582 nephrotic syndrome, type 19 skos:exactMatch UMLS:C4748552 semapv:UnspecifiedMatching MONDO:0032583 microcephaly 24, primary, autosomal recessive skos:exactMatch DOID:0051035 primary autosomal recessive microcephaly 24 semapv:UnspecifiedMatching MONDO:0032583 microcephaly 24, primary, autosomal recessive skos:exactMatch MEDGEN:1648413 semapv:UnspecifiedMatching MONDO:0032583 microcephaly 24, primary, autosomal recessive skos:exactMatch OMIM:618179 microcephaly 24, primary, autosomal recessive semapv:UnspecifiedMatching MONDO:0032583 microcephaly 24, primary, autosomal recessive skos:exactMatch UMLS:C4748555 semapv:UnspecifiedMatching MONDO:0032584 ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis skos:exactMatch DOID:0111662 ectodermal dysplasia 14 semapv:UnspecifiedMatching MONDO:0032584 ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis skos:exactMatch MEDGEN:1648329 semapv:UnspecifiedMatching MONDO:0032584 ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis skos:exactMatch OMIM:618180 ectodermal dysplasia 14, hypohidrotic/hair/tooth/nail type semapv:UnspecifiedMatching MONDO:0032584 ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis skos:exactMatch Orphanet:685067 Hypodontia-scalp hypotrichosis-facial dysmorphism syndrome semapv:UnspecifiedMatching MONDO:0032584 ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis skos:exactMatch UMLS:C4748560 semapv:UnspecifiedMatching MONDO:0032586 diarrhea 10, protein-losing enteropathy type skos:exactMatch MEDGEN:1648311 semapv:UnspecifiedMatching MONDO:0032586 diarrhea 10, protein-losing enteropathy type skos:exactMatch OMIM:618183 diarrhea 10, protein-losing enteropathy type semapv:UnspecifiedMatching MONDO:0032586 diarrhea 10, protein-losing enteropathy type skos:exactMatch UMLS:C4748579 semapv:UnspecifiedMatching MONDO:0032588 periventricular nodular heterotopia 8 skos:exactMatch DOID:0061245 semapv:UnspecifiedMatching MONDO:0032588 periventricular nodular heterotopia 8 skos:exactMatch MEDGEN:1648287 semapv:UnspecifiedMatching MONDO:0032588 periventricular nodular heterotopia 8 skos:exactMatch OMIM:618185 periventricular nodular heterotopia 8 semapv:UnspecifiedMatching MONDO:0032588 periventricular nodular heterotopia 8 skos:exactMatch UMLS:C4748602 semapv:UnspecifiedMatching MONDO:0032590 ovarian dysgenesis 8 skos:exactMatch DOID:0080500 ovarian dysgenesis 8 semapv:UnspecifiedMatching MONDO:0032590 ovarian dysgenesis 8 skos:exactMatch MEDGEN:1648455 semapv:UnspecifiedMatching MONDO:0032590 ovarian dysgenesis 8 skos:exactMatch OMIM:618187 ovarian dysgenesis 8 semapv:UnspecifiedMatching MONDO:0032590 ovarian dysgenesis 8 skos:exactMatch UMLS:C4748626 semapv:UnspecifiedMatching MONDO:0032591 hyperparathyroidism, transient neonatal skos:exactMatch MEDGEN:722059 semapv:UnspecifiedMatching MONDO:0032591 hyperparathyroidism, transient neonatal skos:exactMatch OMIM:618188 hyperparathyroidism, transient neonatal semapv:UnspecifiedMatching MONDO:0032591 hyperparathyroidism, transient neonatal skos:exactMatch UMLS:C1300287 semapv:UnspecifiedMatching MONDO:0032592 cardiomyopathy, dilated, 2c skos:exactMatch DOID:0081159 dilated cardiomyopathy 2C semapv:UnspecifiedMatching MONDO:0032592 cardiomyopathy, dilated, 2c skos:exactMatch MEDGEN:1648379 semapv:UnspecifiedMatching MONDO:0032592 cardiomyopathy, dilated, 2c skos:exactMatch OMIM:618189 cardiomyopathy, dilated, 2c semapv:UnspecifiedMatching MONDO:0032592 cardiomyopathy, dilated, 2c skos:exactMatch UMLS:C4748647 semapv:UnspecifiedMatching MONDO:0032594 intellectual developmental disorder and retinitis pigmentosa; IDDRP skos:exactMatch MEDGEN:1648358 semapv:UnspecifiedMatching MONDO:0032594 intellectual developmental disorder and retinitis pigmentosa; IDDRP skos:exactMatch OMIM:618195 intellectual developmental disorder and retinitis pigmentosa semapv:UnspecifiedMatching MONDO:0032594 intellectual developmental disorder and retinitis pigmentosa; IDDRP skos:exactMatch UMLS:C4748658 semapv:UnspecifiedMatching MONDO:0032596 myasthenic syndrome, congenital, 23, presynaptic skos:exactMatch MEDGEN:1648392 semapv:UnspecifiedMatching MONDO:0032596 myasthenic syndrome, congenital, 23, presynaptic skos:exactMatch OMIM:618197 myasthenic syndrome, congenital, 23, presynaptic semapv:UnspecifiedMatching MONDO:0032596 myasthenic syndrome, congenital, 23, presynaptic skos:exactMatch UMLS:C4748678 semapv:UnspecifiedMatching MONDO:0032597 myasthenic syndrome, congenital, 24, presynaptic skos:exactMatch MEDGEN:1648337 semapv:UnspecifiedMatching MONDO:0032597 myasthenic syndrome, congenital, 24, presynaptic skos:exactMatch OMIM:618198 myasthenic syndrome, congenital, 24, presynaptic semapv:UnspecifiedMatching MONDO:0032597 myasthenic syndrome, congenital, 24, presynaptic skos:exactMatch UMLS:C4748684 semapv:UnspecifiedMatching MONDO:0032598 developmental and epileptic encephalopathy, 68 skos:exactMatch DOID:0112204 developmental and epileptic encephalopathy 68 semapv:UnspecifiedMatching MONDO:0032598 developmental and epileptic encephalopathy, 68 skos:exactMatch MEDGEN:1648479 semapv:UnspecifiedMatching MONDO:0032598 developmental and epileptic encephalopathy, 68 skos:exactMatch OMIM:618201 developmental and epileptic encephalopathy 68 semapv:UnspecifiedMatching MONDO:0032598 developmental and epileptic encephalopathy, 68 skos:exactMatch UMLS:C4748688 semapv:UnspecifiedMatching MONDO:0032599 immunodeficiency 15a skos:exactMatch DOID:0111960 immunodeficiency 15A semapv:UnspecifiedMatching MONDO:0032599 immunodeficiency 15a skos:exactMatch MEDGEN:1648385 semapv:UnspecifiedMatching MONDO:0032599 immunodeficiency 15a skos:exactMatch OMIM:618204 immunodeficiency 15a semapv:UnspecifiedMatching MONDO:0032599 immunodeficiency 15a skos:exactMatch Orphanet:700205 Combined immunodeficiency due to IKBKB gain-of-function mutation semapv:UnspecifiedMatching MONDO:0032599 immunodeficiency 15a skos:exactMatch UMLS:C4748694 semapv:UnspecifiedMatching MONDO:0032600 Snijders Blok-Campeau syndrome skos:exactMatch DOID:0070668 semapv:UnspecifiedMatching MONDO:0032600 Snijders Blok-Campeau syndrome skos:exactMatch MEDGEN:1648495 semapv:UnspecifiedMatching MONDO:0032600 Snijders Blok-Campeau syndrome skos:exactMatch OMIM:618205 snijders blok-campeau syndrome semapv:UnspecifiedMatching MONDO:0032600 Snijders Blok-Campeau syndrome skos:exactMatch Orphanet:599082 CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome semapv:UnspecifiedMatching MONDO:0032600 Snijders Blok-Campeau syndrome skos:exactMatch UMLS:C4748701 semapv:UnspecifiedMatching MONDO:0032601 inflammatory bowel disease, immunodeficiency, and encephalopathy skos:exactMatch MEDGEN:1648434 semapv:UnspecifiedMatching MONDO:0032601 inflammatory bowel disease, immunodeficiency, and encephalopathy skos:exactMatch OMIM:618213 inflammatory bowel disease, immunodeficiency, and encephalopathy semapv:UnspecifiedMatching MONDO:0032601 inflammatory bowel disease, immunodeficiency, and encephalopathy skos:exactMatch Orphanet:565788 Infantile inflammatory bowel disease with neurological involvement semapv:UnspecifiedMatching MONDO:0032601 inflammatory bowel disease, immunodeficiency, and encephalopathy skos:exactMatch UMLS:C4748708 semapv:UnspecifiedMatching MONDO:0032603 polydactyly, postaxial, type A9 skos:exactMatch MEDGEN:1648428 semapv:UnspecifiedMatching MONDO:0032603 polydactyly, postaxial, type A9 skos:exactMatch OMIM:618219 polydactyly, postaxial, type a9 semapv:UnspecifiedMatching MONDO:0032603 polydactyly, postaxial, type A9 skos:exactMatch UMLS:C4748721 semapv:UnspecifiedMatching MONDO:0032604 retinitis pigmentosa 84 skos:exactMatch DOID:0112141 retinitis pigmentosa 84 semapv:UnspecifiedMatching MONDO:0032604 retinitis pigmentosa 84 skos:exactMatch MEDGEN:1648352 semapv:UnspecifiedMatching MONDO:0032604 retinitis pigmentosa 84 skos:exactMatch OMIM:618220 retinitis pigmentosa 84 semapv:UnspecifiedMatching MONDO:0032604 retinitis pigmentosa 84 skos:exactMatch UMLS:C4748725 semapv:UnspecifiedMatching MONDO:0032605 intellectual disability, autosomal recessive 66 skos:exactMatch DOID:0081227 autosomal recessive intellectual developmental disorder 66 semapv:UnspecifiedMatching MONDO:0032605 intellectual disability, autosomal recessive 66 skos:exactMatch MEDGEN:1648460 semapv:UnspecifiedMatching MONDO:0032605 intellectual disability, autosomal recessive 66 skos:exactMatch OMIM:618221 intellectual developmental disorder, autosomal recessive 66 semapv:UnspecifiedMatching MONDO:0032605 intellectual disability, autosomal recessive 66 skos:exactMatch UMLS:C4748732 semapv:UnspecifiedMatching MONDO:0032606 mitochondrial complex I deficiency, nuclear type 2 skos:exactMatch DOID:0112083 nuclear type mitochondrial complex I deficiency 2 semapv:UnspecifiedMatching MONDO:0032606 mitochondrial complex I deficiency, nuclear type 2 skos:exactMatch MEDGEN:1648466 semapv:UnspecifiedMatching MONDO:0032606 mitochondrial complex I deficiency, nuclear type 2 skos:exactMatch OMIM:618222 mitochondrial complex 1 deficiency, nuclear type 2 semapv:UnspecifiedMatching MONDO:0032606 mitochondrial complex I deficiency, nuclear type 2 skos:exactMatch UMLS:C4748737 semapv:UnspecifiedMatching MONDO:0032607 vertebral anomalies and variable endocrine and T-cell dysfunction skos:exactMatch DOID:0070345 vertebral anomalies and variable endocrine and T-cell dysfunction semapv:UnspecifiedMatching MONDO:0032607 vertebral anomalies and variable endocrine and T-cell dysfunction skos:exactMatch MEDGEN:1648299 semapv:UnspecifiedMatching MONDO:0032607 vertebral anomalies and variable endocrine and T-cell dysfunction skos:exactMatch OMIM:618223 vertebral anomalies and variable endocrine and t-cell dysfunction semapv:UnspecifiedMatching MONDO:0032607 vertebral anomalies and variable endocrine and T-cell dysfunction skos:exactMatch UMLS:C4748741 semapv:UnspecifiedMatching MONDO:0032608 mitochondrial complex I deficiency, nuclear type 3 skos:exactMatch DOID:0112093 nuclear type mitochondrial complex I deficiency 3 semapv:UnspecifiedMatching MONDO:0032608 mitochondrial complex I deficiency, nuclear type 3 skos:exactMatch MEDGEN:1648346 semapv:UnspecifiedMatching MONDO:0032608 mitochondrial complex I deficiency, nuclear type 3 skos:exactMatch OMIM:618224 mitochondrial complex 1 deficiency, nuclear type 3 semapv:UnspecifiedMatching MONDO:0032608 mitochondrial complex I deficiency, nuclear type 3 skos:exactMatch UMLS:C4748752 semapv:UnspecifiedMatching MONDO:0032609 mitochondrial complex I deficiency, nuclear type 4 skos:exactMatch DOID:0112082 nuclear type mitochondrial complex I deficiency 4 semapv:UnspecifiedMatching MONDO:0032609 mitochondrial complex I deficiency, nuclear type 4 skos:exactMatch MEDGEN:1648324 semapv:UnspecifiedMatching MONDO:0032609 mitochondrial complex I deficiency, nuclear type 4 skos:exactMatch OMIM:618225 mitochondrial complex 1 deficiency, nuclear type 4 semapv:UnspecifiedMatching MONDO:0032609 mitochondrial complex I deficiency, nuclear type 4 skos:exactMatch UMLS:C4748753 semapv:UnspecifiedMatching MONDO:0032610 mitochondrial complex I deficiency, nuclear type 5 skos:exactMatch DOID:0112068 nuclear type mitochondrial complex I deficiency 5 semapv:UnspecifiedMatching MONDO:0032610 mitochondrial complex I deficiency, nuclear type 5 skos:exactMatch MEDGEN:1648292 semapv:UnspecifiedMatching MONDO:0032610 mitochondrial complex I deficiency, nuclear type 5 skos:exactMatch OMIM:618226 mitochondrial complex 1 deficiency, nuclear type 5 semapv:UnspecifiedMatching MONDO:0032610 mitochondrial complex I deficiency, nuclear type 5 skos:exactMatch UMLS:C4748754 semapv:UnspecifiedMatching MONDO:0032611 mitochondrial complex I deficiency, nuclear type 6 skos:exactMatch DOID:0112066 nuclear type mitochondrial complex I deficiency 6 semapv:UnspecifiedMatching MONDO:0032611 mitochondrial complex I deficiency, nuclear type 6 skos:exactMatch MEDGEN:1648496 semapv:UnspecifiedMatching MONDO:0032611 mitochondrial complex I deficiency, nuclear type 6 skos:exactMatch OMIM:618228 mitochondrial complex 1 deficiency, nuclear type 6 semapv:UnspecifiedMatching MONDO:0032611 mitochondrial complex I deficiency, nuclear type 6 skos:exactMatch UMLS:C4748759 semapv:UnspecifiedMatching MONDO:0032612 mitochondrial complex I deficiency, nuclear type 7 skos:exactMatch DOID:0112092 nuclear type mitochondrial complex I deficiency 7 semapv:UnspecifiedMatching MONDO:0032612 mitochondrial complex I deficiency, nuclear type 7 skos:exactMatch MEDGEN:1648484 semapv:UnspecifiedMatching MONDO:0032612 mitochondrial complex I deficiency, nuclear type 7 skos:exactMatch OMIM:618229 mitochondrial complex 1 deficiency, nuclear type 7 semapv:UnspecifiedMatching MONDO:0032612 mitochondrial complex I deficiency, nuclear type 7 skos:exactMatch UMLS:C4748760 semapv:UnspecifiedMatching MONDO:0032613 mitochondrial complex I deficiency, nuclear type 8 skos:exactMatch DOID:0112081 nuclear type mitochondrial complex I deficiency 8 semapv:UnspecifiedMatching MONDO:0032613 mitochondrial complex I deficiency, nuclear type 8 skos:exactMatch MEDGEN:1648411 semapv:UnspecifiedMatching MONDO:0032613 mitochondrial complex I deficiency, nuclear type 8 skos:exactMatch OMIM:618230 mitochondrial complex 1 deficiency, nuclear type 8 semapv:UnspecifiedMatching MONDO:0032613 mitochondrial complex I deficiency, nuclear type 8 skos:exactMatch UMLS:C4748766 semapv:UnspecifiedMatching MONDO:0032614 epidermodysplasia verruciformis, susceptibility to, 2 skos:exactMatch MEDGEN:1648344 semapv:UnspecifiedMatching MONDO:0032614 epidermodysplasia verruciformis, susceptibility to, 2 skos:exactMatch OMIM:618231 epidermodysplasia verruciformis, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0032614 epidermodysplasia verruciformis, susceptibility to, 2 skos:exactMatch UMLS:C4722258 semapv:UnspecifiedMatching MONDO:0032615 mitochondrial complex I deficiency, nuclear type 9 skos:exactMatch DOID:0112073 nuclear type mitochondrial complex I deficiency 9 semapv:UnspecifiedMatching MONDO:0032615 mitochondrial complex I deficiency, nuclear type 9 skos:exactMatch MEDGEN:1648447 semapv:UnspecifiedMatching MONDO:0032615 mitochondrial complex I deficiency, nuclear type 9 skos:exactMatch OMIM:618232 mitochondrial complex 1 deficiency, nuclear type 9 semapv:UnspecifiedMatching MONDO:0032615 mitochondrial complex I deficiency, nuclear type 9 skos:exactMatch UMLS:C4748767 semapv:UnspecifiedMatching MONDO:0032616 mitochondrial complex I deficiency, nuclear type 10 skos:exactMatch DOID:0112075 nuclear type mitochondrial complex I deficiency 10 semapv:UnspecifiedMatching MONDO:0032616 mitochondrial complex I deficiency, nuclear type 10 skos:exactMatch MEDGEN:1648426 semapv:UnspecifiedMatching MONDO:0032616 mitochondrial complex I deficiency, nuclear type 10 skos:exactMatch OMIM:618233 mitochondrial complex 1 deficiency, nuclear type 10 semapv:UnspecifiedMatching MONDO:0032616 mitochondrial complex I deficiency, nuclear type 10 skos:exactMatch UMLS:C4748768 semapv:UnspecifiedMatching MONDO:0032617 mitochondrial complex I deficiency, nuclear type 11 skos:exactMatch DOID:0112089 nuclear type mitochondrial complex I deficiency 11 semapv:UnspecifiedMatching MONDO:0032617 mitochondrial complex I deficiency, nuclear type 11 skos:exactMatch MEDGEN:1648356 semapv:UnspecifiedMatching MONDO:0032617 mitochondrial complex I deficiency, nuclear type 11 skos:exactMatch OMIM:618234 mitochondrial complex 1 deficiency, nuclear type 11 semapv:UnspecifiedMatching MONDO:0032617 mitochondrial complex I deficiency, nuclear type 11 skos:exactMatch UMLS:C4748769 semapv:UnspecifiedMatching MONDO:0032618 mitochondrial complex I deficiency, nuclear type 13 skos:exactMatch DOID:0112076 nuclear type mitochondrial complex I deficiency 13 semapv:UnspecifiedMatching MONDO:0032618 mitochondrial complex I deficiency, nuclear type 13 skos:exactMatch MEDGEN:1648370 semapv:UnspecifiedMatching MONDO:0032618 mitochondrial complex I deficiency, nuclear type 13 skos:exactMatch OMIM:618235 mitochondrial complex 1 deficiency, nuclear type 13 semapv:UnspecifiedMatching MONDO:0032618 mitochondrial complex I deficiency, nuclear type 13 skos:exactMatch UMLS:C4748770 semapv:UnspecifiedMatching MONDO:0032619 mitochondrial complex I deficiency, nuclear type 14 skos:exactMatch DOID:0112094 nuclear type mitochondrial complex I deficiency 14 semapv:UnspecifiedMatching MONDO:0032619 mitochondrial complex I deficiency, nuclear type 14 skos:exactMatch MEDGEN:1648440 semapv:UnspecifiedMatching MONDO:0032619 mitochondrial complex I deficiency, nuclear type 14 skos:exactMatch OMIM:618236 mitochondrial complex 1 deficiency, nuclear type 14 semapv:UnspecifiedMatching MONDO:0032619 mitochondrial complex I deficiency, nuclear type 14 skos:exactMatch UMLS:C4748777 semapv:UnspecifiedMatching MONDO:0032620 mitochondrial complex I deficiency, nuclear type 15 skos:exactMatch DOID:0112077 nuclear type mitochondrial complex I deficiency 15 semapv:UnspecifiedMatching MONDO:0032620 mitochondrial complex I deficiency, nuclear type 15 skos:exactMatch MEDGEN:1648320 semapv:UnspecifiedMatching MONDO:0032620 mitochondrial complex I deficiency, nuclear type 15 skos:exactMatch OMIM:618237 mitochondrial complex 1 deficiency, nuclear type 15 semapv:UnspecifiedMatching MONDO:0032620 mitochondrial complex I deficiency, nuclear type 15 skos:exactMatch UMLS:C4748778 semapv:UnspecifiedMatching MONDO:0032621 mitochondrial complex I deficiency, nuclear type 16 skos:exactMatch DOID:0112096 nuclear type mitochondrial complex I deficiency 16 semapv:UnspecifiedMatching MONDO:0032621 mitochondrial complex I deficiency, nuclear type 16 skos:exactMatch MEDGEN:1648351 semapv:UnspecifiedMatching MONDO:0032621 mitochondrial complex I deficiency, nuclear type 16 skos:exactMatch OMIM:618238 mitochondrial complex 1 deficiency, nuclear type 16 semapv:UnspecifiedMatching MONDO:0032621 mitochondrial complex I deficiency, nuclear type 16 skos:exactMatch UMLS:C4748785 semapv:UnspecifiedMatching MONDO:0032622 mitochondrial complex I deficiency, nuclear type 17 skos:exactMatch DOID:0112078 nuclear type mitochondrial complex I deficiency 17 semapv:UnspecifiedMatching MONDO:0032622 mitochondrial complex I deficiency, nuclear type 17 skos:exactMatch MEDGEN:1648418 semapv:UnspecifiedMatching MONDO:0032622 mitochondrial complex I deficiency, nuclear type 17 skos:exactMatch OMIM:618239 mitochondrial complex 1 deficiency, nuclear type 17 semapv:UnspecifiedMatching MONDO:0032622 mitochondrial complex I deficiency, nuclear type 17 skos:exactMatch UMLS:C4748786 semapv:UnspecifiedMatching MONDO:0032623 mitochondrial complex I deficiency, nuclear type 18 skos:exactMatch DOID:0112070 nuclear type mitochondrial complex I deficiency 18 semapv:UnspecifiedMatching MONDO:0032623 mitochondrial complex I deficiency, nuclear type 18 skos:exactMatch MEDGEN:1648321 semapv:UnspecifiedMatching MONDO:0032623 mitochondrial complex I deficiency, nuclear type 18 skos:exactMatch OMIM:618240 mitochondrial complex 1 deficiency, nuclear type 18 semapv:UnspecifiedMatching MONDO:0032623 mitochondrial complex I deficiency, nuclear type 18 skos:exactMatch UMLS:C4748790 semapv:UnspecifiedMatching MONDO:0032624 mitochondrial complex I deficiency, nuclear type 19 skos:exactMatch DOID:0112085 nuclear type mitochondrial complex I deficiency 19 semapv:UnspecifiedMatching MONDO:0032624 mitochondrial complex I deficiency, nuclear type 19 skos:exactMatch MEDGEN:1648450 semapv:UnspecifiedMatching MONDO:0032624 mitochondrial complex I deficiency, nuclear type 19 skos:exactMatch OMIM:618241 mitochondrial complex 1 deficiency, nuclear type 19 semapv:UnspecifiedMatching MONDO:0032624 mitochondrial complex I deficiency, nuclear type 19 skos:exactMatch UMLS:C4748791 semapv:UnspecifiedMatching MONDO:0032625 mitochondrial complex I deficiency, nuclear type 21 skos:exactMatch DOID:0112088 nuclear type mitochondrial complex I deficiency 21 semapv:UnspecifiedMatching MONDO:0032625 mitochondrial complex I deficiency, nuclear type 21 skos:exactMatch MEDGEN:1648383 semapv:UnspecifiedMatching MONDO:0032625 mitochondrial complex I deficiency, nuclear type 21 skos:exactMatch OMIM:618242 mitochondrial complex 1 deficiency, nuclear type 21 semapv:UnspecifiedMatching MONDO:0032625 mitochondrial complex I deficiency, nuclear type 21 skos:exactMatch UMLS:C4748792 semapv:UnspecifiedMatching MONDO:0032626 mitochondrial complex I deficiency, nuclear type 22 skos:exactMatch DOID:0112069 nuclear type mitochondrial complex I deficiency 22 semapv:UnspecifiedMatching MONDO:0032626 mitochondrial complex I deficiency, nuclear type 22 skos:exactMatch MEDGEN:1648347 semapv:UnspecifiedMatching MONDO:0032626 mitochondrial complex I deficiency, nuclear type 22 skos:exactMatch OMIM:618243 mitochondrial complex 1 deficiency, nuclear type 22 semapv:UnspecifiedMatching MONDO:0032626 mitochondrial complex I deficiency, nuclear type 22 skos:exactMatch UMLS:C4748796 semapv:UnspecifiedMatching MONDO:0032627 mitochondrial complex I deficiency, nuclear type 23 skos:exactMatch DOID:0112087 nuclear type mitochondrial complex I deficiency 23 semapv:UnspecifiedMatching MONDO:0032627 mitochondrial complex I deficiency, nuclear type 23 skos:exactMatch MEDGEN:1648408 semapv:UnspecifiedMatching MONDO:0032627 mitochondrial complex I deficiency, nuclear type 23 skos:exactMatch OMIM:618244 mitochondrial complex 1 deficiency, nuclear type 23 semapv:UnspecifiedMatching MONDO:0032627 mitochondrial complex I deficiency, nuclear type 23 skos:exactMatch UMLS:C4748799 semapv:UnspecifiedMatching MONDO:0032628 mitochondrial complex I deficiency, nuclear type 24 skos:exactMatch DOID:0112079 nuclear type mitochondrial complex I deficiency 24 semapv:UnspecifiedMatching MONDO:0032628 mitochondrial complex I deficiency, nuclear type 24 skos:exactMatch MEDGEN:1648364 semapv:UnspecifiedMatching MONDO:0032628 mitochondrial complex I deficiency, nuclear type 24 skos:exactMatch OMIM:618245 mitochondrial complex 1 deficiency, nuclear type 24 semapv:UnspecifiedMatching MONDO:0032628 mitochondrial complex I deficiency, nuclear type 24 skos:exactMatch UMLS:C4748803 semapv:UnspecifiedMatching MONDO:0032629 mitochondrial complex I deficiency, nuclear type 25 skos:exactMatch DOID:0112067 nuclear type mitochondrial complex I deficiency 25 semapv:UnspecifiedMatching MONDO:0032629 mitochondrial complex I deficiency, nuclear type 25 skos:exactMatch MEDGEN:1648366 semapv:UnspecifiedMatching MONDO:0032629 mitochondrial complex I deficiency, nuclear type 25 skos:exactMatch OMIM:618246 mitochondrial complex 1 deficiency, nuclear type 25 semapv:UnspecifiedMatching MONDO:0032629 mitochondrial complex I deficiency, nuclear type 25 skos:exactMatch UMLS:C4748806 semapv:UnspecifiedMatching MONDO:0032630 mitochondrial complex I deficiency, nuclear type 26 skos:exactMatch DOID:0112086 nuclear type mitochondrial complex I deficiency 26 semapv:UnspecifiedMatching MONDO:0032630 mitochondrial complex I deficiency, nuclear type 26 skos:exactMatch MEDGEN:1648283 semapv:UnspecifiedMatching MONDO:0032630 mitochondrial complex I deficiency, nuclear type 26 skos:exactMatch OMIM:618247 mitochondrial complex 1 deficiency, nuclear type 26 semapv:UnspecifiedMatching MONDO:0032630 mitochondrial complex I deficiency, nuclear type 26 skos:exactMatch UMLS:C4748809 semapv:UnspecifiedMatching MONDO:0032631 mitochondrial complex I deficiency, nuclear type 27 skos:exactMatch DOID:0112090 nuclear type mitochondrial complex I deficiency 27 semapv:UnspecifiedMatching MONDO:0032631 mitochondrial complex I deficiency, nuclear type 27 skos:exactMatch MEDGEN:1648481 semapv:UnspecifiedMatching MONDO:0032631 mitochondrial complex I deficiency, nuclear type 27 skos:exactMatch OMIM:618248 mitochondrial complex 1 deficiency, nuclear type 27 semapv:UnspecifiedMatching MONDO:0032631 mitochondrial complex I deficiency, nuclear type 27 skos:exactMatch UMLS:C4748826 semapv:UnspecifiedMatching MONDO:0032632 mitochondrial complex I deficiency, nuclear type 28 skos:exactMatch DOID:0112095 nuclear type mitochondrial complex I deficiency 28 semapv:UnspecifiedMatching MONDO:0032632 mitochondrial complex I deficiency, nuclear type 28 skos:exactMatch MEDGEN:1648493 semapv:UnspecifiedMatching MONDO:0032632 mitochondrial complex I deficiency, nuclear type 28 skos:exactMatch OMIM:618249 mitochondrial complex 1 deficiency, nuclear type 28 semapv:UnspecifiedMatching MONDO:0032632 mitochondrial complex I deficiency, nuclear type 28 skos:exactMatch UMLS:C4748827 semapv:UnspecifiedMatching MONDO:0032633 mitochondrial complex I deficiency, nuclear type 29 skos:exactMatch DOID:0112084 nuclear type mitochondrial complex I deficiency 29 semapv:UnspecifiedMatching MONDO:0032633 mitochondrial complex I deficiency, nuclear type 29 skos:exactMatch MEDGEN:1648451 semapv:UnspecifiedMatching MONDO:0032633 mitochondrial complex I deficiency, nuclear type 29 skos:exactMatch OMIM:618250 mitochondrial complex 1 deficiency, nuclear type 29 semapv:UnspecifiedMatching MONDO:0032633 mitochondrial complex I deficiency, nuclear type 29 skos:exactMatch UMLS:C4748830 semapv:UnspecifiedMatching MONDO:0032634 mitochondrial complex I deficiency, nuclear type 31 skos:exactMatch DOID:0112071 nuclear type mitochondrial complex I deficiency 31 semapv:UnspecifiedMatching MONDO:0032634 mitochondrial complex I deficiency, nuclear type 31 skos:exactMatch MEDGEN:1648395 semapv:UnspecifiedMatching MONDO:0032634 mitochondrial complex I deficiency, nuclear type 31 skos:exactMatch OMIM:618251 mitochondrial complex 1 deficiency, nuclear type 31 semapv:UnspecifiedMatching MONDO:0032634 mitochondrial complex I deficiency, nuclear type 31 skos:exactMatch UMLS:C4748838 semapv:UnspecifiedMatching MONDO:0032635 mitochondrial complex I deficiency, nuclear type 32 skos:exactMatch DOID:0112080 nuclear type mitochondrial complex I deficiency 32 semapv:UnspecifiedMatching MONDO:0032635 mitochondrial complex I deficiency, nuclear type 32 skos:exactMatch MEDGEN:1648336 semapv:UnspecifiedMatching MONDO:0032635 mitochondrial complex I deficiency, nuclear type 32 skos:exactMatch OMIM:618252 mitochondrial complex 1 deficiency, nuclear type 32 semapv:UnspecifiedMatching MONDO:0032635 mitochondrial complex I deficiency, nuclear type 32 skos:exactMatch UMLS:C4748839 semapv:UnspecifiedMatching MONDO:0032636 mitochondrial complex I deficiency, nuclear type 33 skos:exactMatch DOID:0112097 nuclear type mitochondrial complex I deficiency 33 semapv:UnspecifiedMatching MONDO:0032636 mitochondrial complex I deficiency, nuclear type 33 skos:exactMatch MEDGEN:1648420 semapv:UnspecifiedMatching MONDO:0032636 mitochondrial complex I deficiency, nuclear type 33 skos:exactMatch OMIM:618253 mitochondrial complex 1 deficiency, nuclear type 33 semapv:UnspecifiedMatching MONDO:0032636 mitochondrial complex I deficiency, nuclear type 33 skos:exactMatch UMLS:C4748840 semapv:UnspecifiedMatching MONDO:0032637 ciliary dyskinesia, primary, 39 skos:exactMatch DOID:0111854 primary ciliary dyskinesia 39 semapv:UnspecifiedMatching MONDO:0032637 ciliary dyskinesia, primary, 39 skos:exactMatch MEDGEN:1648363 semapv:UnspecifiedMatching MONDO:0032637 ciliary dyskinesia, primary, 39 skos:exactMatch OMIM:618254 ciliary dyskinesia, primary, 39 semapv:UnspecifiedMatching MONDO:0032637 ciliary dyskinesia, primary, 39 skos:exactMatch UMLS:C4748841 semapv:UnspecifiedMatching MONDO:0032639 hearing loss, autosomal recessive 112 skos:exactMatch DOID:0111637 autosomal recessive nonsyndromic deafness 112 semapv:UnspecifiedMatching MONDO:0032639 hearing loss, autosomal recessive 112 skos:exactMatch MEDGEN:1648378 semapv:UnspecifiedMatching MONDO:0032639 hearing loss, autosomal recessive 112 skos:exactMatch OMIM:618257 deafness, autosomal recessive 112 semapv:UnspecifiedMatching MONDO:0032639 hearing loss, autosomal recessive 112 skos:exactMatch UMLS:C4748855 semapv:UnspecifiedMatching MONDO:0032641 mirror movements 4 skos:exactMatch DOID:0070638 mirror movements 4 semapv:UnspecifiedMatching MONDO:0032641 mirror movements 4 skos:exactMatch MEDGEN:1648342 semapv:UnspecifiedMatching MONDO:0032641 mirror movements 4 skos:exactMatch OMIM:618264 mirror movements 4 semapv:UnspecifiedMatching MONDO:0032641 mirror movements 4 skos:exactMatch UMLS:C4748869 semapv:UnspecifiedMatching MONDO:0032642 arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development skos:exactMatch MEDGEN:1648372 semapv:UnspecifiedMatching MONDO:0032642 arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development skos:exactMatch OMIM:618265 arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development semapv:UnspecifiedMatching MONDO:0032642 arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development skos:exactMatch Orphanet:565858 Craniosynostosis-microretrognathia-severe intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0032642 arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development skos:exactMatch UMLS:C4748872 semapv:UnspecifiedMatching MONDO:0032643 pontocerebellar hypoplasia, type 12 skos:exactMatch DOID:0112327 pontocerebellar hypoplasia type 12 semapv:UnspecifiedMatching MONDO:0032643 pontocerebellar hypoplasia, type 12 skos:exactMatch MEDGEN:1648343 semapv:UnspecifiedMatching MONDO:0032643 pontocerebellar hypoplasia, type 12 skos:exactMatch OMIM:618266 pontocerebellar hypoplasia, type 12 semapv:UnspecifiedMatching MONDO:0032643 pontocerebellar hypoplasia, type 12 skos:exactMatch Orphanet:611256 Pontocerebellar hypoplasia type 12 semapv:UnspecifiedMatching MONDO:0032643 pontocerebellar hypoplasia, type 12 skos:exactMatch UMLS:C4748873 semapv:UnspecifiedMatching MONDO:0032644 epidermodysplasia verruciformis, susceptibility to, 3 skos:exactMatch MEDGEN:1648390 semapv:UnspecifiedMatching MONDO:0032644 epidermodysplasia verruciformis, susceptibility to, 3 skos:exactMatch OMIM:618267 epidermodysplasia verruciformis, susceptibility to, 3 semapv:UnspecifiedMatching MONDO:0032644 epidermodysplasia verruciformis, susceptibility to, 3 skos:exactMatch UMLS:C4748876 semapv:UnspecifiedMatching MONDO:0032645 trichohepatoneurodevelopmental syndrome skos:exactMatch MEDGEN:1648322 semapv:UnspecifiedMatching MONDO:0032645 trichohepatoneurodevelopmental syndrome skos:exactMatch OMIM:618268 trichohepatoneurodevelopmental syndrome semapv:UnspecifiedMatching MONDO:0032645 trichohepatoneurodevelopmental syndrome skos:exactMatch UMLS:C4748898 semapv:UnspecifiedMatching MONDO:0032646 congenital anomalies of kidney and urinary tract 3 skos:exactMatch MEDGEN:1648427 semapv:UnspecifiedMatching MONDO:0032646 congenital anomalies of kidney and urinary tract 3 skos:exactMatch OMIM:618270 congenital anomalies of kidney and urinary tract 3 semapv:UnspecifiedMatching MONDO:0032646 congenital anomalies of kidney and urinary tract 3 skos:exactMatch UMLS:C4748921 semapv:UnspecifiedMatching MONDO:0032648 mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations skos:exactMatch DOID:0111403 mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations semapv:UnspecifiedMatching MONDO:0032648 mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations skos:exactMatch MEDGEN:1648439 semapv:UnspecifiedMatching MONDO:0032648 mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations skos:exactMatch OMIM:618273 mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations semapv:UnspecifiedMatching MONDO:0032648 mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations skos:exactMatch UMLS:C4748927 semapv:UnspecifiedMatching MONDO:0032649 hypotrichosis 14 skos:exactMatch DOID:0080582 hypotrichosis 14 semapv:UnspecifiedMatching MONDO:0032649 hypotrichosis 14 skos:exactMatch MEDGEN:1648477 semapv:UnspecifiedMatching MONDO:0032649 hypotrichosis 14 skos:exactMatch OMIM:618275 hypotrichosis 14 semapv:UnspecifiedMatching MONDO:0032649 hypotrichosis 14 skos:exactMatch UMLS:C4748930 semapv:UnspecifiedMatching MONDO:0032650 neurodegeneration, childhood-onset, with cerebellar atrophy skos:exactMatch MEDGEN:1648286 semapv:UnspecifiedMatching MONDO:0032650 neurodegeneration, childhood-onset, with cerebellar atrophy skos:exactMatch OMIM:618276 neurodegeneration, childhood-onset, with cerebellar atrophy semapv:UnspecifiedMatching MONDO:0032650 neurodegeneration, childhood-onset, with cerebellar atrophy skos:exactMatch UMLS:C4748934 semapv:UnspecifiedMatching MONDO:0032651 fibrosis, neurodegeneration, and cerebral angiomatosis skos:exactMatch MEDGEN:1648312 semapv:UnspecifiedMatching MONDO:0032651 fibrosis, neurodegeneration, and cerebral angiomatosis skos:exactMatch OMIM:618278 fibrosis, neurodegeneration, and cerebral angiomatosis semapv:UnspecifiedMatching MONDO:0032651 fibrosis, neurodegeneration, and cerebral angiomatosis skos:exactMatch Orphanet:621758 Fibrosis-neurodegeneration-cerebral angiomatosis syndrome semapv:UnspecifiedMatching MONDO:0032651 fibrosis, neurodegeneration, and cerebral angiomatosis skos:exactMatch UMLS:C4748939 semapv:UnspecifiedMatching MONDO:0032653 cardiac-urogenital syndrome skos:exactMatch MEDGEN:1648333 semapv:UnspecifiedMatching MONDO:0032653 cardiac-urogenital syndrome skos:exactMatch OMIM:618280 cardiac-urogenital syndrome semapv:UnspecifiedMatching MONDO:0032653 cardiac-urogenital syndrome skos:exactMatch Orphanet:647811 Cardiac-urogenital syndrome semapv:UnspecifiedMatching MONDO:0032653 cardiac-urogenital syndrome skos:exactMatch UMLS:C4748946 semapv:UnspecifiedMatching MONDO:0032654 hyper-IgE recurrent infection syndrome 3, autosomal recessive skos:exactMatch DOID:0080595 autosomal recessive hyper-IgE syndrome 3 with recurrent infections semapv:UnspecifiedMatching MONDO:0032654 hyper-IgE recurrent infection syndrome 3, autosomal recessive skos:exactMatch MEDGEN:1648483 semapv:UnspecifiedMatching MONDO:0032654 hyper-IgE recurrent infection syndrome 3, autosomal recessive skos:exactMatch OMIM:618282 hyper-ige syndrome 3, autosomal recessive, with recurrent infections semapv:UnspecifiedMatching MONDO:0032654 hyper-IgE recurrent infection syndrome 3, autosomal recessive skos:exactMatch Orphanet:641368 Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency semapv:UnspecifiedMatching MONDO:0032654 hyper-IgE recurrent infection syndrome 3, autosomal recessive skos:exactMatch UMLS:C4748969 semapv:UnspecifiedMatching MONDO:0032655 visual impairment and progressive phthisis bulbi skos:exactMatch DOID:0070356 visual impairment and progressive phthisis bulbi semapv:UnspecifiedMatching MONDO:0032655 visual impairment and progressive phthisis bulbi skos:exactMatch MEDGEN:1648430 semapv:UnspecifiedMatching MONDO:0032655 visual impairment and progressive phthisis bulbi skos:exactMatch OMIM:618283 visual impairment and progressive phthisis bulbi semapv:UnspecifiedMatching MONDO:0032655 visual impairment and progressive phthisis bulbi skos:exactMatch UMLS:C4748978 semapv:UnspecifiedMatching MONDO:0032656 microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum skos:exactMatch MEDGEN:1648355 semapv:UnspecifiedMatching MONDO:0032656 microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum skos:exactMatch OMIM:618284 microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum semapv:UnspecifiedMatching MONDO:0032656 microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum skos:exactMatch UMLS:C4748984 semapv:UnspecifiedMatching MONDO:0032657 developmental and epileptic encephalopathy, 69 skos:exactMatch DOID:0112205 developmental and epileptic encephalopathy 69 semapv:UnspecifiedMatching MONDO:0032657 developmental and epileptic encephalopathy, 69 skos:exactMatch MEDGEN:1648381 semapv:UnspecifiedMatching MONDO:0032657 developmental and epileptic encephalopathy, 69 skos:exactMatch OMIM:618285 developmental and epileptic encephalopathy 69 semapv:UnspecifiedMatching MONDO:0032657 developmental and epileptic encephalopathy, 69 skos:exactMatch UMLS:C4748988 semapv:UnspecifiedMatching MONDO:0032658 macrocephaly, acquired, with impaired intellectual development skos:exactMatch MEDGEN:1648471 semapv:UnspecifiedMatching MONDO:0032658 macrocephaly, acquired, with impaired intellectual development skos:exactMatch OMIM:618286 macrocephaly, acquired, with impaired intellectual development semapv:UnspecifiedMatching MONDO:0032658 macrocephaly, acquired, with impaired intellectual development skos:exactMatch UMLS:C4748993 semapv:UnspecifiedMatching MONDO:0032659 mucocutaneous ulceration, chronic skos:exactMatch MEDGEN:1648375 semapv:UnspecifiedMatching MONDO:0032659 mucocutaneous ulceration, chronic skos:exactMatch OMIM:618287 autoinflammatory disease, familial, behcet-like 3 semapv:UnspecifiedMatching MONDO:0032659 mucocutaneous ulceration, chronic skos:exactMatch UMLS:C4748997 semapv:UnspecifiedMatching MONDO:0032660 spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant skos:exactMatch DOID:0070350 spinal muscular atrophy with lower extremity predominant 2B semapv:UnspecifiedMatching MONDO:0032660 spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant skos:exactMatch MEDGEN:1648362 semapv:UnspecifiedMatching MONDO:0032660 spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant skos:exactMatch OMIM:618291 spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant semapv:UnspecifiedMatching MONDO:0032660 spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant skos:exactMatch UMLS:C4749003 semapv:UnspecifiedMatching MONDO:0032661 neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia skos:exactMatch MEDGEN:1648291 semapv:UnspecifiedMatching MONDO:0032661 neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia skos:exactMatch OMIM:618292 neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia semapv:UnspecifiedMatching MONDO:0032661 neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia skos:exactMatch UMLS:C4749014 semapv:UnspecifiedMatching MONDO:0032662 intellectual developmental disorder, autosomal recessive 67 skos:exactMatch DOID:0081228 autosomal recessive intellectual developmental disorder 67 semapv:UnspecifiedMatching MONDO:0032662 intellectual developmental disorder, autosomal recessive 67 skos:exactMatch MEDGEN:1648350 semapv:UnspecifiedMatching MONDO:0032662 intellectual developmental disorder, autosomal recessive 67 skos:exactMatch OMIM:618295 intellectual developmental disorder, autosomal recessive 67 semapv:UnspecifiedMatching MONDO:0032662 intellectual developmental disorder, autosomal recessive 67 skos:exactMatch UMLS:C4749019 semapv:UnspecifiedMatching MONDO:0032663 developmental and epileptic encephalopathy, 70 skos:exactMatch DOID:0112206 developmental and epileptic encephalopathy 70 semapv:UnspecifiedMatching MONDO:0032663 developmental and epileptic encephalopathy, 70 skos:exactMatch MEDGEN:1648407 semapv:UnspecifiedMatching MONDO:0032663 developmental and epileptic encephalopathy, 70 skos:exactMatch OMIM:618298 developmental and epileptic encephalopathy 70 semapv:UnspecifiedMatching MONDO:0032663 developmental and epileptic encephalopathy, 70 skos:exactMatch UMLS:C4749023 semapv:UnspecifiedMatching MONDO:0032664 ciliary dyskinesia, primary, 40 skos:exactMatch DOID:0111853 primary ciliary dyskinesia 40 semapv:UnspecifiedMatching MONDO:0032664 ciliary dyskinesia, primary, 40 skos:exactMatch MEDGEN:1648365 semapv:UnspecifiedMatching MONDO:0032664 ciliary dyskinesia, primary, 40 skos:exactMatch OMIM:618300 ciliary dyskinesia, primary, 40 semapv:UnspecifiedMatching MONDO:0032664 ciliary dyskinesia, primary, 40 skos:exactMatch UMLS:C4749028 semapv:UnspecifiedMatching MONDO:0032665 intellectual developmental disorder, autosomal recessive 68 skos:exactMatch DOID:0081229 autosomal recessive intellectual developmental disorder 68 semapv:UnspecifiedMatching MONDO:0032665 intellectual developmental disorder, autosomal recessive 68 skos:exactMatch MEDGEN:1648490 semapv:UnspecifiedMatching MONDO:0032665 intellectual developmental disorder, autosomal recessive 68 skos:exactMatch OMIM:618302 intellectual developmental disorder, autosomal recessive 68 semapv:UnspecifiedMatching MONDO:0032665 intellectual developmental disorder, autosomal recessive 68 skos:exactMatch UMLS:C4749033 semapv:UnspecifiedMatching MONDO:0032666 epidermodysplasia verruciformis, susceptibility to, 4 skos:exactMatch DOID:0061094 immunodeficiency 129 semapv:UnspecifiedMatching MONDO:0032666 epidermodysplasia verruciformis, susceptibility to, 4 skos:exactMatch MEDGEN:1648396 semapv:UnspecifiedMatching MONDO:0032666 epidermodysplasia verruciformis, susceptibility to, 4 skos:exactMatch NCIT:C176608 Epidermodysplasia Verruciformis, Susceptibility to, 4 semapv:UnspecifiedMatching MONDO:0032666 epidermodysplasia verruciformis, susceptibility to, 4 skos:exactMatch OMIM:618307 immunodeficiency 129 semapv:UnspecifiedMatching MONDO:0032666 epidermodysplasia verruciformis, susceptibility to, 4 skos:exactMatch UMLS:C4749042 semapv:UnspecifiedMatching MONDO:0032667 epidermodysplasia verruciformis, susceptibility to, 5 skos:exactMatch DOID:0061095 obsolete immunodeficiency 130 semapv:UnspecifiedMatching MONDO:0032667 epidermodysplasia verruciformis, susceptibility to, 5 skos:exactMatch DOID:0061171 immunodeficiency 130 with HPV-related verrucosis semapv:UnspecifiedMatching MONDO:0032667 epidermodysplasia verruciformis, susceptibility to, 5 skos:exactMatch MEDGEN:1648489 semapv:UnspecifiedMatching MONDO:0032667 epidermodysplasia verruciformis, susceptibility to, 5 skos:exactMatch OMIM:618309 immunodeficiency 130 with hpv-related verrucosis semapv:UnspecifiedMatching MONDO:0032667 epidermodysplasia verruciformis, susceptibility to, 5 skos:exactMatch UMLS:C4749043 semapv:UnspecifiedMatching MONDO:0032668 Diamond-Blackfan anemia 18 skos:exactMatch DOID:0111896 Diamond-Blackfan anemia 18 semapv:UnspecifiedMatching MONDO:0032668 Diamond-Blackfan anemia 18 skos:exactMatch MEDGEN:1681154 semapv:UnspecifiedMatching MONDO:0032668 Diamond-Blackfan anemia 18 skos:exactMatch OMIM:618310 diamond-blackfan anemia 18 semapv:UnspecifiedMatching MONDO:0032668 Diamond-Blackfan anemia 18 skos:exactMatch UMLS:C5193020 semapv:UnspecifiedMatching MONDO:0032669 Diamond-Blackfan anemia 19 skos:exactMatch DOID:0111886 Diamond-Blackfan anemia 19 semapv:UnspecifiedMatching MONDO:0032669 Diamond-Blackfan anemia 19 skos:exactMatch MEDGEN:1683070 semapv:UnspecifiedMatching MONDO:0032669 Diamond-Blackfan anemia 19 skos:exactMatch OMIM:618312 diamond-blackfan anemia 19 semapv:UnspecifiedMatching MONDO:0032669 Diamond-Blackfan anemia 19 skos:exactMatch UMLS:C5193021 semapv:UnspecifiedMatching MONDO:0032670 Diamond-Blackfan anemia 20 skos:exactMatch DOID:0111891 Diamond-Blackfan anemia 20 semapv:UnspecifiedMatching MONDO:0032670 Diamond-Blackfan anemia 20 skos:exactMatch MEDGEN:1674961 semapv:UnspecifiedMatching MONDO:0032670 Diamond-Blackfan anemia 20 skos:exactMatch OMIM:618313 diamond-blackfan anemia 20 semapv:UnspecifiedMatching MONDO:0032670 Diamond-Blackfan anemia 20 skos:exactMatch UMLS:C5193022 semapv:UnspecifiedMatching MONDO:0032672 intellectual developmental disorder with cardiac defects and dysmorphic facies skos:exactMatch MEDGEN:1675627 semapv:UnspecifiedMatching MONDO:0032672 intellectual developmental disorder with cardiac defects and dysmorphic facies skos:exactMatch OMIM:618316 intellectual developmental disorder with cardiac defects and dysmorphic facies semapv:UnspecifiedMatching MONDO:0032672 intellectual developmental disorder with cardiac defects and dysmorphic facies skos:exactMatch Orphanet:562569 TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome semapv:UnspecifiedMatching MONDO:0032672 intellectual developmental disorder with cardiac defects and dysmorphic facies skos:exactMatch UMLS:C5193024 semapv:UnspecifiedMatching MONDO:0032673 basal ganglia calcification, idiopathic, 7, autosomal recessive skos:exactMatch MEDGEN:1683911 semapv:UnspecifiedMatching MONDO:0032673 basal ganglia calcification, idiopathic, 7, autosomal recessive skos:exactMatch OMIM:618317 basal ganglia calcification, idiopathic, 7, autosomal recessive semapv:UnspecifiedMatching MONDO:0032673 basal ganglia calcification, idiopathic, 7, autosomal recessive skos:exactMatch UMLS:C5193025 semapv:UnspecifiedMatching MONDO:0032675 myasthenic syndrome, congenital, 25, presynaptic skos:exactMatch MEDGEN:1683288 semapv:UnspecifiedMatching MONDO:0032675 myasthenic syndrome, congenital, 25, presynaptic skos:exactMatch OMIM:618323 myasthenic syndrome, congenital, 25, presynaptic semapv:UnspecifiedMatching MONDO:0032675 myasthenic syndrome, congenital, 25, presynaptic skos:exactMatch UMLS:C5193027 semapv:UnspecifiedMatching MONDO:0032677 lissencephaly 9 with complex brainstem malformation skos:exactMatch DOID:0112228 lissencephaly 9 with complex brainstem malformation semapv:UnspecifiedMatching MONDO:0032677 lissencephaly 9 with complex brainstem malformation skos:exactMatch MEDGEN:1681109 semapv:UnspecifiedMatching MONDO:0032677 lissencephaly 9 with complex brainstem malformation skos:exactMatch OMIM:618325 lissencephaly 9 with complex brainstem malformation semapv:UnspecifiedMatching MONDO:0032677 lissencephaly 9 with complex brainstem malformation skos:exactMatch Orphanet:572013 Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome semapv:UnspecifiedMatching MONDO:0032677 lissencephaly 9 with complex brainstem malformation skos:exactMatch UMLS:C5193029 semapv:UnspecifiedMatching MONDO:0032678 developmental and epileptic encephalopathy, 71 skos:exactMatch DOID:0112207 developmental and epileptic encephalopathy 71 semapv:UnspecifiedMatching MONDO:0032678 developmental and epileptic encephalopathy, 71 skos:exactMatch MEDGEN:1680812 semapv:UnspecifiedMatching MONDO:0032678 developmental and epileptic encephalopathy, 71 skos:exactMatch OMIM:618328 developmental and epileptic encephalopathy 71 semapv:UnspecifiedMatching MONDO:0032678 developmental and epileptic encephalopathy, 71 skos:exactMatch Orphanet:557064 Neonatal epileptic encephalopathy due to glutaminase deficiency semapv:UnspecifiedMatching MONDO:0032678 developmental and epileptic encephalopathy, 71 skos:exactMatch UMLS:C5193030 semapv:UnspecifiedMatching MONDO:0032679 combined oxidative phosphorylation deficiency 37 skos:exactMatch DOID:0111499 combined oxidative phosphorylation deficiency 37 semapv:UnspecifiedMatching MONDO:0032679 combined oxidative phosphorylation deficiency 37 skos:exactMatch MEDGEN:1675208 semapv:UnspecifiedMatching MONDO:0032679 combined oxidative phosphorylation deficiency 37 skos:exactMatch OMIM:618329 combined oxidative phosphorylation deficiency 37 semapv:UnspecifiedMatching MONDO:0032679 combined oxidative phosphorylation deficiency 37 skos:exactMatch UMLS:C5193031 semapv:UnspecifiedMatching MONDO:0032680 global developmental delay with or without impaired intellectual development skos:exactMatch MEDGEN:1675328 semapv:UnspecifiedMatching MONDO:0032680 global developmental delay with or without impaired intellectual development skos:exactMatch OMIM:618330 neurodevelopmental disorder with developmental delay and with or without motor or speech delay semapv:UnspecifiedMatching MONDO:0032680 global developmental delay with or without impaired intellectual development skos:exactMatch UMLS:C5193032 semapv:UnspecifiedMatching MONDO:0032681 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis skos:exactMatch MEDGEN:1682670 semapv:UnspecifiedMatching MONDO:0032681 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis skos:exactMatch OMIM:618331 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis semapv:UnspecifiedMatching MONDO:0032681 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis skos:exactMatch UMLS:C5193033 semapv:UnspecifiedMatching MONDO:0032684 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency skos:exactMatch MEDGEN:1684464 semapv:UnspecifiedMatching MONDO:0032684 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency skos:exactMatch OMIM:618336 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency semapv:UnspecifiedMatching MONDO:0032684 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency skos:exactMatch UMLS:C5193036 semapv:UnspecifiedMatching MONDO:0032685 infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development skos:exactMatch DOID:0061156 CASGID syndrome semapv:UnspecifiedMatching MONDO:0032685 infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development skos:exactMatch MEDGEN:1673640 semapv:UnspecifiedMatching MONDO:0032685 infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development skos:exactMatch OMIM:618339 CASGID syndrome semapv:UnspecifiedMatching MONDO:0032685 infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development skos:exactMatch UMLS:C5193037 semapv:UnspecifiedMatching MONDO:0032686 spermatogenic failure 35 skos:exactMatch DOID:0111914 spermatogenic failure 35 semapv:UnspecifiedMatching MONDO:0032686 spermatogenic failure 35 skos:exactMatch MEDGEN:1679765 semapv:UnspecifiedMatching MONDO:0032686 spermatogenic failure 35 skos:exactMatch OMIM:618341 spermatogenic failure 35 semapv:UnspecifiedMatching MONDO:0032686 spermatogenic failure 35 skos:exactMatch UMLS:C5193038 semapv:UnspecifiedMatching MONDO:0032687 intellectual developmental disorder with abnormal behavior, microcephaly, and short stature skos:exactMatch DOID:0081265 intellectual developmental disorder with abnormal behavior, microcephaly, and short stature semapv:UnspecifiedMatching MONDO:0032687 intellectual developmental disorder with abnormal behavior, microcephaly, and short stature skos:exactMatch MEDGEN:1675423 semapv:UnspecifiedMatching MONDO:0032687 intellectual developmental disorder with abnormal behavior, microcephaly, and short stature skos:exactMatch OMIM:618342 intellectual developmental disorder with abnormal behavior, microcephaly, and short stature semapv:UnspecifiedMatching MONDO:0032687 intellectual developmental disorder with abnormal behavior, microcephaly, and short stature skos:exactMatch UMLS:C5193039 semapv:UnspecifiedMatching MONDO:0032688 polymicrogyria with or without vascular-type Ehlers-Danlos syndrome skos:exactMatch MEDGEN:1675672 semapv:UnspecifiedMatching MONDO:0032688 polymicrogyria with or without vascular-type Ehlers-Danlos syndrome skos:exactMatch OMIM:618343 polymicrogyria with or without vascular-type ehlers-danlos syndrome semapv:UnspecifiedMatching MONDO:0032688 polymicrogyria with or without vascular-type Ehlers-Danlos syndrome skos:exactMatch Orphanet:636941 Vascular Ehlers-Danlos-polymicrogyria syndrome semapv:UnspecifiedMatching MONDO:0032688 polymicrogyria with or without vascular-type Ehlers-Danlos syndrome skos:exactMatch UMLS:C5193040 semapv:UnspecifiedMatching MONDO:0032689 retinitis pigmentosa 85 skos:exactMatch DOID:0112142 retinitis pigmentosa 85 semapv:UnspecifiedMatching MONDO:0032689 retinitis pigmentosa 85 skos:exactMatch MEDGEN:1682947 semapv:UnspecifiedMatching MONDO:0032689 retinitis pigmentosa 85 skos:exactMatch OMIM:618345 retinitis pigmentosa 85 semapv:UnspecifiedMatching MONDO:0032689 retinitis pigmentosa 85 skos:exactMatch UMLS:C5193041 semapv:UnspecifiedMatching MONDO:0032690 microcephaly, growth deficiency, seizures, and brain malformations skos:exactMatch DOID:0081051 microcephaly, growth deficiency, seizures, and brain malformations semapv:UnspecifiedMatching MONDO:0032690 microcephaly, growth deficiency, seizures, and brain malformations skos:exactMatch MEDGEN:1676229 semapv:UnspecifiedMatching MONDO:0032690 microcephaly, growth deficiency, seizures, and brain malformations skos:exactMatch OMIM:618346 microcephaly, growth deficiency, seizures, and brain malformations semapv:UnspecifiedMatching MONDO:0032690 microcephaly, growth deficiency, seizures, and brain malformations skos:exactMatch UMLS:C5193042 semapv:UnspecifiedMatching MONDO:0032691 Galloway-Mowat syndrome 6 skos:exactMatch MEDGEN:1674560 semapv:UnspecifiedMatching MONDO:0032691 Galloway-Mowat syndrome 6 skos:exactMatch OMIM:618347 galloway-mowat syndrome 6 semapv:UnspecifiedMatching MONDO:0032691 Galloway-Mowat syndrome 6 skos:exactMatch UMLS:C5193043 semapv:UnspecifiedMatching MONDO:0032692 Galloway-Mowat syndrome 7 skos:exactMatch MEDGEN:1679283 semapv:UnspecifiedMatching MONDO:0032692 Galloway-Mowat syndrome 7 skos:exactMatch OMIM:618348 galloway-mowat syndrome 7 semapv:UnspecifiedMatching MONDO:0032692 Galloway-Mowat syndrome 7 skos:exactMatch UMLS:C5193044 semapv:UnspecifiedMatching MONDO:0032693 Galloway-Mowat syndrome 8 skos:exactMatch MEDGEN:1675829 semapv:UnspecifiedMatching MONDO:0032693 Galloway-Mowat syndrome 8 skos:exactMatch OMIM:618349 galloway-mowat syndrome 8 semapv:UnspecifiedMatching MONDO:0032693 Galloway-Mowat syndrome 8 skos:exactMatch UMLS:C5193045 semapv:UnspecifiedMatching MONDO:0032694 microcephaly 25, primary, autosomal recessive skos:exactMatch DOID:0051036 primary autosomal recessive microcephaly 25 semapv:UnspecifiedMatching MONDO:0032694 microcephaly 25, primary, autosomal recessive skos:exactMatch MEDGEN:1674123 semapv:UnspecifiedMatching MONDO:0032694 microcephaly 25, primary, autosomal recessive skos:exactMatch OMIM:618351 microcephaly 25, primary, autosomal recessive semapv:UnspecifiedMatching MONDO:0032694 microcephaly 25, primary, autosomal recessive skos:exactMatch UMLS:C5193046 semapv:UnspecifiedMatching MONDO:0032696 oocyte maturation defect 6 skos:exactMatch MEDGEN:1682649 semapv:UnspecifiedMatching MONDO:0032696 oocyte maturation defect 6 skos:exactMatch OMIM:618353 oocyte/zygote/embryo maturation arrest 6 semapv:UnspecifiedMatching MONDO:0032696 oocyte maturation defect 6 skos:exactMatch UMLS:C5193047 semapv:UnspecifiedMatching MONDO:0032697 Houge-Janssens syndrome 3 skos:exactMatch MEDGEN:1677130 semapv:UnspecifiedMatching MONDO:0032697 Houge-Janssens syndrome 3 skos:exactMatch OMIM:618354 houge-janssens syndrome 3 semapv:UnspecifiedMatching MONDO:0032697 Houge-Janssens syndrome 3 skos:exactMatch UMLS:C5193048 semapv:UnspecifiedMatching MONDO:0032698 neurodevelopmental disorder with central and peripheral motor dysfunction skos:exactMatch MEDGEN:1674767 semapv:UnspecifiedMatching MONDO:0032698 neurodevelopmental disorder with central and peripheral motor dysfunction skos:exactMatch OMIM:618356 neurodevelopmental disorder with central and peripheral motor dysfunction semapv:UnspecifiedMatching MONDO:0032698 neurodevelopmental disorder with central and peripheral motor dysfunction skos:exactMatch UMLS:C5193049 semapv:UnspecifiedMatching MONDO:0032699 epilepsy, idiopathic generalized, susceptibility to, 15 skos:exactMatch MEDGEN:1675524 semapv:UnspecifiedMatching MONDO:0032699 epilepsy, idiopathic generalized, susceptibility to, 15 skos:exactMatch OMIM:618357 epilepsy, idiopathic generalized, susceptibility to, 15 semapv:UnspecifiedMatching MONDO:0032699 epilepsy, idiopathic generalized, susceptibility to, 15 skos:exactMatch UMLS:C5193050 semapv:UnspecifiedMatching MONDO:0032702 Coffin-Siris syndrome 8 skos:exactMatch DOID:0112367 Coffin-Siris syndrome 8 semapv:UnspecifiedMatching MONDO:0032702 Coffin-Siris syndrome 8 skos:exactMatch MEDGEN:1679527 semapv:UnspecifiedMatching MONDO:0032702 Coffin-Siris syndrome 8 skos:exactMatch OMIM:618362 coffin-siris syndrome 8 semapv:UnspecifiedMatching MONDO:0032702 Coffin-Siris syndrome 8 skos:exactMatch UMLS:C5193054 semapv:UnspecifiedMatching MONDO:0032703 short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis skos:exactMatch MEDGEN:1676818 semapv:UnspecifiedMatching MONDO:0032703 short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis skos:exactMatch OMIM:618363 short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis semapv:UnspecifiedMatching MONDO:0032703 short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis skos:exactMatch UMLS:C5193055 semapv:UnspecifiedMatching MONDO:0032705 neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination skos:exactMatch MEDGEN:1684142 semapv:UnspecifiedMatching MONDO:0032705 neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination skos:exactMatch OMIM:618367 neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination semapv:UnspecifiedMatching MONDO:0032705 neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination skos:exactMatch Orphanet:597874 MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome semapv:UnspecifiedMatching MONDO:0032705 neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination skos:exactMatch UMLS:C5193057 semapv:UnspecifiedMatching MONDO:0032706 spinocerebellar ataxia, autosomal recessive 27 skos:exactMatch DOID:0111616 autosomal recessive spinocerebellar ataxia 27 semapv:UnspecifiedMatching MONDO:0032706 spinocerebellar ataxia, autosomal recessive 27 skos:exactMatch MEDGEN:1672866 semapv:UnspecifiedMatching MONDO:0032706 spinocerebellar ataxia, autosomal recessive 27 skos:exactMatch OMIM:618369 spinocerebellar ataxia, autosomal recessive 27 semapv:UnspecifiedMatching MONDO:0032706 spinocerebellar ataxia, autosomal recessive 27 skos:exactMatch UMLS:C5193058 semapv:UnspecifiedMatching MONDO:0032707 turnpenny-fry syndrome skos:exactMatch MEDGEN:1683283 semapv:UnspecifiedMatching MONDO:0032707 turnpenny-fry syndrome skos:exactMatch OMIM:618371 turnpenny-fry syndrome semapv:UnspecifiedMatching MONDO:0032707 turnpenny-fry syndrome skos:exactMatch Orphanet:688642 Turnpenny-Fry syndrome semapv:UnspecifiedMatching MONDO:0032707 turnpenny-fry syndrome skos:exactMatch UMLS:C5193060 semapv:UnspecifiedMatching MONDO:0032710 developmental and epileptic encephalopathy, 72 skos:exactMatch DOID:0112208 developmental and epileptic encephalopathy 72 semapv:UnspecifiedMatching MONDO:0032710 developmental and epileptic encephalopathy, 72 skos:exactMatch MEDGEN:1681879 semapv:UnspecifiedMatching MONDO:0032710 developmental and epileptic encephalopathy, 72 skos:exactMatch OMIM:618374 developmental and epileptic encephalopathy 72 semapv:UnspecifiedMatching MONDO:0032710 developmental and epileptic encephalopathy, 72 skos:exactMatch UMLS:C5193063 semapv:UnspecifiedMatching MONDO:0032712 combined oxidative phosphorylation deficiency 38 skos:exactMatch DOID:0111466 combined oxidative phosphorylation deficiency 38 semapv:UnspecifiedMatching MONDO:0032712 combined oxidative phosphorylation deficiency 38 skos:exactMatch MEDGEN:1682102 semapv:UnspecifiedMatching MONDO:0032712 combined oxidative phosphorylation deficiency 38 skos:exactMatch OMIM:618378 combined oxidative phosphorylation deficiency 38 semapv:UnspecifiedMatching MONDO:0032712 combined oxidative phosphorylation deficiency 38 skos:exactMatch UMLS:C5193064 semapv:UnspecifiedMatching MONDO:0032714 facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome skos:exactMatch MEDGEN:1679105 semapv:UnspecifiedMatching MONDO:0032714 facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome skos:exactMatch OMIM:618381 facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome semapv:UnspecifiedMatching MONDO:0032714 facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome skos:exactMatch Orphanet:598603 Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome semapv:UnspecifiedMatching MONDO:0032714 facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome skos:exactMatch UMLS:C5193066 semapv:UnspecifiedMatching MONDO:0032715 intellectual developmental disorder, autosomal recessive 69 skos:exactMatch DOID:0081230 autosomal recessive intellectual developmental disorder 69 semapv:UnspecifiedMatching MONDO:0032715 intellectual developmental disorder, autosomal recessive 69 skos:exactMatch MEDGEN:1676539 semapv:UnspecifiedMatching MONDO:0032715 intellectual developmental disorder, autosomal recessive 69 skos:exactMatch OMIM:618383 neurodevelopmental disorder with progressive movement abnormalities, cognitive decline, and brain abnormalities semapv:UnspecifiedMatching MONDO:0032715 intellectual developmental disorder, autosomal recessive 69 skos:exactMatch Orphanet:699835 Cataract-combined malonic and methylmalonic aciduria-intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0032715 intellectual developmental disorder, autosomal recessive 69 skos:exactMatch UMLS:C5193067 semapv:UnspecifiedMatching MONDO:0032716 leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate skos:exactMatch MEDGEN:1677730 semapv:UnspecifiedMatching MONDO:0032716 leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate skos:exactMatch OMIM:618384 leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate semapv:UnspecifiedMatching MONDO:0032716 leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate skos:exactMatch Orphanet:615964 Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate semapv:UnspecifiedMatching MONDO:0032716 leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate skos:exactMatch UMLS:C5193068 semapv:UnspecifiedMatching MONDO:0032717 amelogenesis imperfecta, type 3C skos:exactMatch DOID:0111722 amelogenesis imperfecta type 3C semapv:UnspecifiedMatching MONDO:0032717 amelogenesis imperfecta, type 3C skos:exactMatch MEDGEN:1676410 semapv:UnspecifiedMatching MONDO:0032717 amelogenesis imperfecta, type 3C skos:exactMatch OMIM:618386 amelogenesis imperfecta, type 3c semapv:UnspecifiedMatching MONDO:0032717 amelogenesis imperfecta, type 3C skos:exactMatch UMLS:C5193069 semapv:UnspecifiedMatching MONDO:0032721 spondyloepiphyseal dysplasia, kondo-fu type skos:exactMatch DOID:0112283 spondyloepiphyseal dysplasia Kondo-Fu type semapv:UnspecifiedMatching MONDO:0032721 spondyloepiphyseal dysplasia, kondo-fu type skos:exactMatch MEDGEN:1683128 semapv:UnspecifiedMatching MONDO:0032721 spondyloepiphyseal dysplasia, kondo-fu type skos:exactMatch OMIM:618392 spondyloepiphyseal dysplasia, kondo-fu type semapv:UnspecifiedMatching MONDO:0032721 spondyloepiphyseal dysplasia, kondo-fu type skos:exactMatch UMLS:C5193071 semapv:UnspecifiedMatching MONDO:0032723 immunodeficiency 60 skos:exactMatch DOID:0111954 immunodeficiency 60 semapv:UnspecifiedMatching MONDO:0032723 immunodeficiency 60 skos:exactMatch MEDGEN:1681890 semapv:UnspecifiedMatching MONDO:0032723 immunodeficiency 60 skos:exactMatch OMIM:618394 immunodeficiency 60 and autoimmunity semapv:UnspecifiedMatching MONDO:0032723 immunodeficiency 60 skos:exactMatch UMLS:C5193072 semapv:UnspecifiedMatching MONDO:0032724 spondyloepimetaphyseal dysplasia with joint laxity, type 3 skos:exactMatch DOID:0112200 spondyloepimetaphyseal dysplasia with joint laxity type 3 semapv:UnspecifiedMatching MONDO:0032724 spondyloepimetaphyseal dysplasia with joint laxity, type 3 skos:exactMatch MEDGEN:1677378 semapv:UnspecifiedMatching MONDO:0032724 spondyloepimetaphyseal dysplasia with joint laxity, type 3 skos:exactMatch OMIM:618395 spondyloepimetaphyseal dysplasia with joint laxity, type 3 semapv:UnspecifiedMatching MONDO:0032724 spondyloepimetaphyseal dysplasia with joint laxity, type 3 skos:exactMatch Orphanet:642085 EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity semapv:UnspecifiedMatching MONDO:0032724 spondyloepimetaphyseal dysplasia with joint laxity, type 3 skos:exactMatch UMLS:C5193073 semapv:UnspecifiedMatching MONDO:0032725 developmental and epileptic encephalopathy, 74 skos:exactMatch DOID:0112210 developmental and epileptic encephalopathy 74 semapv:UnspecifiedMatching MONDO:0032725 developmental and epileptic encephalopathy, 74 skos:exactMatch MEDGEN:1680535 semapv:UnspecifiedMatching MONDO:0032725 developmental and epileptic encephalopathy, 74 skos:exactMatch OMIM:618396 developmental and epileptic encephalopathy 74 semapv:UnspecifiedMatching MONDO:0032725 developmental and epileptic encephalopathy, 74 skos:exactMatch UMLS:C5193074 semapv:UnspecifiedMatching MONDO:0032726 combined oxidative phosphorylation deficiency 39 skos:exactMatch DOID:0111475 combined oxidative phosphorylation deficiency 39 semapv:UnspecifiedMatching MONDO:0032726 combined oxidative phosphorylation deficiency 39 skos:exactMatch MEDGEN:1683958 semapv:UnspecifiedMatching MONDO:0032726 combined oxidative phosphorylation deficiency 39 skos:exactMatch OMIM:618397 combined oxidative phosphorylation deficiency 39 semapv:UnspecifiedMatching MONDO:0032726 combined oxidative phosphorylation deficiency 39 skos:exactMatch Orphanet:565624 Combined oxidative phosphorylation defect type 39 semapv:UnspecifiedMatching MONDO:0032726 combined oxidative phosphorylation deficiency 39 skos:exactMatch UMLS:C5193075 semapv:UnspecifiedMatching MONDO:0032728 Charcot-Marie-Tooth disease, axonal, type 2EE skos:exactMatch DOID:0111559 Charcot-Marie-Tooth disease type 2EE semapv:UnspecifiedMatching MONDO:0032728 Charcot-Marie-Tooth disease, axonal, type 2EE skos:exactMatch MEDGEN:1677426 semapv:UnspecifiedMatching MONDO:0032728 Charcot-Marie-Tooth disease, axonal, type 2EE skos:exactMatch OMIM:618400 charcot-marie-tooth disease, axonal, type 2ee semapv:UnspecifiedMatching MONDO:0032728 Charcot-Marie-Tooth disease, axonal, type 2EE skos:exactMatch UMLS:C5193076 semapv:UnspecifiedMatching MONDO:0032729 intellectual developmental disorder, autosomal recessive 70 skos:exactMatch DOID:0081231 autosomal recessive intellectual developmental disorder 70 semapv:UnspecifiedMatching MONDO:0032729 intellectual developmental disorder, autosomal recessive 70 skos:exactMatch MEDGEN:1679317 semapv:UnspecifiedMatching MONDO:0032729 intellectual developmental disorder, autosomal recessive 70 skos:exactMatch OMIM:618402 intellectual developmental disorder, autosomal recessive 70 semapv:UnspecifiedMatching MONDO:0032729 intellectual developmental disorder, autosomal recessive 70 skos:exactMatch UMLS:C5193077 semapv:UnspecifiedMatching MONDO:0032730 leukodystrophy, hypomyelinating, 18 skos:exactMatch DOID:0070399 hypomyelinating leukodystrophy 18 semapv:UnspecifiedMatching MONDO:0032730 leukodystrophy, hypomyelinating, 18 skos:exactMatch MEDGEN:1680067 semapv:UnspecifiedMatching MONDO:0032730 leukodystrophy, hypomyelinating, 18 skos:exactMatch OMIM:618404 leukodystrophy, hypomyelinating, 18 semapv:UnspecifiedMatching MONDO:0032730 leukodystrophy, hypomyelinating, 18 skos:exactMatch UMLS:C5193078 semapv:UnspecifiedMatching MONDO:0032732 hearing loss, autosomal recessive 113 skos:exactMatch DOID:0111636 autosomal recessive nonsyndromic deafness 113 semapv:UnspecifiedMatching MONDO:0032732 hearing loss, autosomal recessive 113 skos:exactMatch MEDGEN:1674289 semapv:UnspecifiedMatching MONDO:0032732 hearing loss, autosomal recessive 113 skos:exactMatch OMIM:618410 deafness, autosomal recessive 113 semapv:UnspecifiedMatching MONDO:0032732 hearing loss, autosomal recessive 113 skos:exactMatch UMLS:C5193079 semapv:UnspecifiedMatching MONDO:0032733 global developmental delay, progressive ataxia, and elevated glutamine skos:exactMatch MEDGEN:1680160 semapv:UnspecifiedMatching MONDO:0032733 global developmental delay, progressive ataxia, and elevated glutamine skos:exactMatch OMIM:618412 global developmental delay, progressive ataxia, and elevated glutamine semapv:UnspecifiedMatching MONDO:0032733 global developmental delay, progressive ataxia, and elevated glutamine skos:exactMatch UMLS:C5193080 semapv:UnspecifiedMatching MONDO:0032735 cataract 48 skos:exactMatch DOID:0070354 cataract 48 semapv:UnspecifiedMatching MONDO:0032735 cataract 48 skos:exactMatch MEDGEN:1684457 semapv:UnspecifiedMatching MONDO:0032735 cataract 48 skos:exactMatch OMIM:618415 cataract 48 semapv:UnspecifiedMatching MONDO:0032735 cataract 48 skos:exactMatch UMLS:C5193082 semapv:UnspecifiedMatching MONDO:0032736 metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression skos:exactMatch MEDGEN:1681269 semapv:UnspecifiedMatching MONDO:0032736 metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression skos:exactMatch OMIM:618416 metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression semapv:UnspecifiedMatching MONDO:0032736 metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression skos:exactMatch UMLS:C5193083 semapv:UnspecifiedMatching MONDO:0032737 spastic paraplegia 80, autosomal dominant skos:exactMatch DOID:0112341 hereditary spastic paraplegia 80 semapv:UnspecifiedMatching MONDO:0032737 spastic paraplegia 80, autosomal dominant skos:exactMatch MEDGEN:1682111 semapv:UnspecifiedMatching MONDO:0032737 spastic paraplegia 80, autosomal dominant skos:exactMatch OMIM:618418 spastic paraplegia 80, autosomal dominant semapv:UnspecifiedMatching MONDO:0032737 spastic paraplegia 80, autosomal dominant skos:exactMatch Orphanet:631068 Autosomal dominant spastic paraplegia type 80 semapv:UnspecifiedMatching MONDO:0032737 spastic paraplegia 80, autosomal dominant skos:exactMatch UMLS:C5193084 semapv:UnspecifiedMatching MONDO:0032738 gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy skos:exactMatch MEDGEN:1679397 semapv:UnspecifiedMatching MONDO:0032738 gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy skos:exactMatch OMIM:618419 myoectodermal gonadal dysgenesis syndrome semapv:UnspecifiedMatching MONDO:0032738 gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy skos:exactMatch UMLS:C5193085 semapv:UnspecifiedMatching MONDO:0032739 spermatogenic failure 36 skos:exactMatch DOID:0111921 spermatogenic failure 36 semapv:UnspecifiedMatching MONDO:0032739 spermatogenic failure 36 skos:exactMatch MEDGEN:1678385 semapv:UnspecifiedMatching MONDO:0032739 spermatogenic failure 36 skos:exactMatch OMIM:618420 spermatogenic failure 36 semapv:UnspecifiedMatching MONDO:0032739 spermatogenic failure 36 skos:exactMatch UMLS:C5193086 semapv:UnspecifiedMatching MONDO:0032740 hearing loss, autosomal recessive 100 skos:exactMatch DOID:0111638 autosomal recessive nonsyndromic deafness 100 semapv:UnspecifiedMatching MONDO:0032740 hearing loss, autosomal recessive 100 skos:exactMatch MEDGEN:1682525 semapv:UnspecifiedMatching MONDO:0032740 hearing loss, autosomal recessive 100 skos:exactMatch OMIM:618422 deafness, autosomal recessive 100 semapv:UnspecifiedMatching MONDO:0032740 hearing loss, autosomal recessive 100 skos:exactMatch UMLS:C5193087 semapv:UnspecifiedMatching MONDO:0032741 neurodevelopmental disorder with impaired speech and hyperkinetic movements skos:exactMatch MEDGEN:1681181 semapv:UnspecifiedMatching MONDO:0032741 neurodevelopmental disorder with impaired speech and hyperkinetic movements skos:exactMatch OMIM:618425 neurodevelopmental disorder with impaired speech and hyperkinetic movements semapv:UnspecifiedMatching MONDO:0032741 neurodevelopmental disorder with impaired speech and hyperkinetic movements skos:exactMatch UMLS:C5193088 semapv:UnspecifiedMatching MONDO:0032742 encephalopathy, acute, infection-induced, susceptibility to, 9 skos:exactMatch MEDGEN:1673394 semapv:UnspecifiedMatching MONDO:0032742 encephalopathy, acute, infection-induced, susceptibility to, 9 skos:exactMatch OMIM:618426 encephalopathy, acute, infection-induced, susceptibility to, 9 semapv:UnspecifiedMatching MONDO:0032742 encephalopathy, acute, infection-induced, susceptibility to, 9 skos:exactMatch UMLS:C5193089 semapv:UnspecifiedMatching MONDO:0032744 spermatogenic failure 37 skos:exactMatch DOID:0111927 spermatogenic failure 37 semapv:UnspecifiedMatching MONDO:0032744 spermatogenic failure 37 skos:exactMatch MEDGEN:1677534 semapv:UnspecifiedMatching MONDO:0032744 spermatogenic failure 37 skos:exactMatch OMIM:618429 spermatogenic failure 37 semapv:UnspecifiedMatching MONDO:0032744 spermatogenic failure 37 skos:exactMatch UMLS:C5193091 semapv:UnspecifiedMatching MONDO:0032745 developmental delay with variable intellectual impairment and behavioral abnormalities skos:exactMatch MEDGEN:1676192 semapv:UnspecifiedMatching MONDO:0032745 developmental delay with variable intellectual impairment and behavioral abnormalities skos:exactMatch OMIM:618430 developmental delay with variable intellectual impairment and behavioral abnormalities semapv:UnspecifiedMatching MONDO:0032745 developmental delay with variable intellectual impairment and behavioral abnormalities skos:exactMatch UMLS:C5193092 semapv:UnspecifiedMatching MONDO:0032746 hydatidiform mole, recurrent, 3 skos:exactMatch MEDGEN:1677775 semapv:UnspecifiedMatching MONDO:0032746 hydatidiform mole, recurrent, 3 skos:exactMatch OMIM:618431 hydatidiform mole, recurrent, 3 semapv:UnspecifiedMatching MONDO:0032746 hydatidiform mole, recurrent, 3 skos:exactMatch UMLS:C5193093 semapv:UnspecifiedMatching MONDO:0032747 hydatidiform mole, recurrent, 4 skos:exactMatch MEDGEN:1677210 semapv:UnspecifiedMatching MONDO:0032747 hydatidiform mole, recurrent, 4 skos:exactMatch OMIM:618432 hydatidiform mole, recurrent, 4 semapv:UnspecifiedMatching MONDO:0032747 hydatidiform mole, recurrent, 4 skos:exactMatch UMLS:C5193094 semapv:UnspecifiedMatching MONDO:0032748 spermatogenic failure 38 skos:exactMatch DOID:0111919 spermatogenic failure 38 semapv:UnspecifiedMatching MONDO:0032748 spermatogenic failure 38 skos:exactMatch MEDGEN:1680356 semapv:UnspecifiedMatching MONDO:0032748 spermatogenic failure 38 skos:exactMatch OMIM:618433 spermatogenic failure 38 semapv:UnspecifiedMatching MONDO:0032748 spermatogenic failure 38 skos:exactMatch UMLS:C5193095 semapv:UnspecifiedMatching MONDO:0032749 hearing loss, autosomal recessive 94 skos:exactMatch DOID:0111641 autosomal recessive nonsyndromic deafness 94 semapv:UnspecifiedMatching MONDO:0032749 hearing loss, autosomal recessive 94 skos:exactMatch MEDGEN:1679077 semapv:UnspecifiedMatching MONDO:0032749 hearing loss, autosomal recessive 94 skos:exactMatch OMIM:618434 deafness, autosomal recessive 94 semapv:UnspecifiedMatching MONDO:0032749 hearing loss, autosomal recessive 94 skos:exactMatch UMLS:C5193096 semapv:UnspecifiedMatching MONDO:0032750 arthrogryposis, distal, type 2B2 skos:exactMatch DOID:0111601 distal arthrogryposis type 2B2 semapv:UnspecifiedMatching MONDO:0032750 arthrogryposis, distal, type 2B2 skos:exactMatch MEDGEN:1674500 semapv:UnspecifiedMatching MONDO:0032750 arthrogryposis, distal, type 2B2 skos:exactMatch OMIM:618435 arthrogryposis, distal, type 2b2 semapv:UnspecifiedMatching MONDO:0032750 arthrogryposis, distal, type 2B2 skos:exactMatch UMLS:C5193097 semapv:UnspecifiedMatching MONDO:0032751 arthrogryposis, distal, type 2B3 skos:exactMatch DOID:0111602 distal arthrogryposis type 2B3 semapv:UnspecifiedMatching MONDO:0032751 arthrogryposis, distal, type 2B3 skos:exactMatch MEDGEN:1676839 semapv:UnspecifiedMatching MONDO:0032751 arthrogryposis, distal, type 2B3 skos:exactMatch OMIM:618436 arthrogryposis, distal, type 2b3 semapv:UnspecifiedMatching MONDO:0032751 arthrogryposis, distal, type 2B3 skos:exactMatch UMLS:C5193098 semapv:UnspecifiedMatching MONDO:0032752 developmental and epileptic encephalopathy, 75 skos:exactMatch DOID:0112211 developmental and epileptic encephalopathy 75 semapv:UnspecifiedMatching MONDO:0032752 developmental and epileptic encephalopathy, 75 skos:exactMatch MEDGEN:1684253 semapv:UnspecifiedMatching MONDO:0032752 developmental and epileptic encephalopathy, 75 skos:exactMatch OMIM:618437 developmental and epileptic encephalopathy 75 semapv:UnspecifiedMatching MONDO:0032752 developmental and epileptic encephalopathy, 75 skos:exactMatch UMLS:C5193099 semapv:UnspecifiedMatching MONDO:0032753 spastic ataxia 9, autosomal recessive skos:exactMatch MEDGEN:1680026 semapv:UnspecifiedMatching MONDO:0032753 spastic ataxia 9, autosomal recessive skos:exactMatch OMIM:618438 spastic ataxia 9, autosomal recessive semapv:UnspecifiedMatching MONDO:0032753 spastic ataxia 9, autosomal recessive skos:exactMatch UMLS:C5193100 semapv:UnspecifiedMatching MONDO:0032755 neurodevelopmental disorder with or without variable brain abnormalities; NEDBA skos:exactMatch MEDGEN:1675664 semapv:UnspecifiedMatching MONDO:0032755 neurodevelopmental disorder with or without variable brain abnormalities; NEDBA skos:exactMatch OMIM:618443 neurodevelopmental disorder with or without variable brain abnormalities semapv:UnspecifiedMatching MONDO:0032755 neurodevelopmental disorder with or without variable brain abnormalities; NEDBA skos:exactMatch UMLS:C5193102 semapv:UnspecifiedMatching MONDO:0032756 long QT syndrome 8 skos:exactMatch DOID:0110649 long QT syndrome 8 semapv:UnspecifiedMatching MONDO:0032756 long QT syndrome 8 skos:exactMatch OMIM:618447 long qt syndrome 8 semapv:UnspecifiedMatching MONDO:0032757 ciliary dyskinesia, primary, 41 skos:exactMatch DOID:0111858 primary ciliary dyskinesia 41 semapv:UnspecifiedMatching MONDO:0032757 ciliary dyskinesia, primary, 41 skos:exactMatch MEDGEN:1680404 semapv:UnspecifiedMatching MONDO:0032757 ciliary dyskinesia, primary, 41 skos:exactMatch OMIM:618449 ciliary dyskinesia, primary, 41 semapv:UnspecifiedMatching MONDO:0032757 ciliary dyskinesia, primary, 41 skos:exactMatch UMLS:C5193103 semapv:UnspecifiedMatching MONDO:0032758 neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia skos:exactMatch MEDGEN:1676579 semapv:UnspecifiedMatching MONDO:0032758 neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia skos:exactMatch OMIM:618451 neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia semapv:UnspecifiedMatching MONDO:0032758 neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia skos:exactMatch UMLS:C5193104 semapv:UnspecifiedMatching MONDO:0032759 intellectual developmental disorder with short stature and variable skeletal anomalies skos:exactMatch MEDGEN:1680968 semapv:UnspecifiedMatching MONDO:0032759 intellectual developmental disorder with short stature and variable skeletal anomalies skos:exactMatch OMIM:618453 intellectual developmental disorder with short stature and variable skeletal anomalies semapv:UnspecifiedMatching MONDO:0032759 intellectual developmental disorder with short stature and variable skeletal anomalies skos:exactMatch UMLS:C5193105 semapv:UnspecifiedMatching MONDO:0032760 developmental delay with or without dysmorphic facies and autism skos:exactMatch MEDGEN:1679263 semapv:UnspecifiedMatching MONDO:0032760 developmental delay with or without dysmorphic facies and autism skos:exactMatch OMIM:618454 developmental delay with or without dysmorphic facies and autism semapv:UnspecifiedMatching MONDO:0032760 developmental delay with or without dysmorphic facies and autism skos:exactMatch UMLS:C5193106 semapv:UnspecifiedMatching MONDO:0032761 hearing loss, autosomal recessive 114 skos:exactMatch DOID:0111642 autosomal recessive nonsyndromic deafness 114 semapv:UnspecifiedMatching MONDO:0032761 hearing loss, autosomal recessive 114 skos:exactMatch MEDGEN:1684024 semapv:UnspecifiedMatching MONDO:0032761 hearing loss, autosomal recessive 114 skos:exactMatch OMIM:618456 deafness, autosomal recessive 114 semapv:UnspecifiedMatching MONDO:0032761 hearing loss, autosomal recessive 114 skos:exactMatch UMLS:C5193107 semapv:UnspecifiedMatching MONDO:0032762 hearing loss, autosomal recessive 115 skos:exactMatch DOID:0111643 autosomal recessive nonsyndromic deafness 115 semapv:UnspecifiedMatching MONDO:0032762 hearing loss, autosomal recessive 115 skos:exactMatch MEDGEN:1681630 semapv:UnspecifiedMatching MONDO:0032762 hearing loss, autosomal recessive 115 skos:exactMatch OMIM:618457 deafness, autosomal recessive 115 semapv:UnspecifiedMatching MONDO:0032762 hearing loss, autosomal recessive 115 skos:exactMatch UMLS:C5193108 semapv:UnspecifiedMatching MONDO:0032763 immunodeficiency 62 skos:exactMatch DOID:0111991 immunodeficiency 62 semapv:UnspecifiedMatching MONDO:0032763 immunodeficiency 62 skos:exactMatch MEDGEN:1673905 semapv:UnspecifiedMatching MONDO:0032763 immunodeficiency 62 skos:exactMatch OMIM:618459 immunodeficiency 62 semapv:UnspecifiedMatching MONDO:0032763 immunodeficiency 62 skos:exactMatch Orphanet:696942 Childhood-onset common variable immunodeficiency due to ARHGEF1 deficiency semapv:UnspecifiedMatching MONDO:0032763 immunodeficiency 62 skos:exactMatch UMLS:C5193109 semapv:UnspecifiedMatching MONDO:0032764 Khan-Khan-Katsanis syndrome skos:exactMatch MEDGEN:1682553 semapv:UnspecifiedMatching MONDO:0032764 Khan-Khan-Katsanis syndrome skos:exactMatch OMIM:618460 khan-khan-katsanis syndrome semapv:UnspecifiedMatching MONDO:0032764 Khan-Khan-Katsanis syndrome skos:exactMatch UMLS:C5193110 semapv:UnspecifiedMatching MONDO:0032765 bleeding disorder, platelet-type, 22 skos:exactMatch MEDGEN:1673822 semapv:UnspecifiedMatching MONDO:0032765 bleeding disorder, platelet-type, 22 skos:exactMatch OMIM:618462 bleeding disorder, platelet-type, 22 semapv:UnspecifiedMatching MONDO:0032765 bleeding disorder, platelet-type, 22 skos:exactMatch UMLS:C5193111 semapv:UnspecifiedMatching MONDO:0032766 hypoalphalipoproteinemia, primary, 2 skos:exactMatch DOID:0080958 primary hypoalphalipoproteinemia 2 semapv:UnspecifiedMatching MONDO:0032766 hypoalphalipoproteinemia, primary, 2 skos:exactMatch MEDGEN:1789263 semapv:UnspecifiedMatching MONDO:0032766 hypoalphalipoproteinemia, primary, 2 skos:exactMatch OMIM:618463 hypoalphalipoproteinemia, primary, 2 semapv:UnspecifiedMatching MONDO:0032766 hypoalphalipoproteinemia, primary, 2 skos:exactMatch UMLS:C5551172 semapv:UnspecifiedMatching MONDO:0032767 pheochromocytoma/paraganglioma syndrome 6 skos:exactMatch DOID:0061221 pheochromocytoma/paraganglioma syndrome 6 semapv:UnspecifiedMatching MONDO:0032767 pheochromocytoma/paraganglioma syndrome 6 skos:exactMatch MEDGEN:1681559 semapv:UnspecifiedMatching MONDO:0032767 pheochromocytoma/paraganglioma syndrome 6 skos:exactMatch OMIM:618464 pheochromocytoma/paraganglioma syndrome 6 semapv:UnspecifiedMatching MONDO:0032767 pheochromocytoma/paraganglioma syndrome 6 skos:exactMatch UMLS:C5193112 semapv:UnspecifiedMatching MONDO:0032768 developmental and epileptic encephalopathy, 76 skos:exactMatch DOID:0112212 developmental and epileptic encephalopathy 76 semapv:UnspecifiedMatching MONDO:0032768 developmental and epileptic encephalopathy, 76 skos:exactMatch MEDGEN:1673011 semapv:UnspecifiedMatching MONDO:0032768 developmental and epileptic encephalopathy, 76 skos:exactMatch OMIM:618468 developmental and epileptic encephalopathy 76 semapv:UnspecifiedMatching MONDO:0032768 developmental and epileptic encephalopathy, 76 skos:exactMatch UMLS:C5193113 semapv:UnspecifiedMatching MONDO:0032770 intellectual developmental disorder with severe speech and ambulation defects skos:exactMatch MEDGEN:1682234 semapv:UnspecifiedMatching MONDO:0032770 intellectual developmental disorder with severe speech and ambulation defects skos:exactMatch OMIM:618470 intellectual developmental disorder with severe speech and ambulation defects semapv:UnspecifiedMatching MONDO:0032770 intellectual developmental disorder with severe speech and ambulation defects skos:exactMatch UMLS:C5193115 semapv:UnspecifiedMatching MONDO:0032771 pheochromocytoma/paraganglioma syndrome 7 skos:exactMatch DOID:0061222 pheochromocytoma/paraganglioma syndrome 7 semapv:UnspecifiedMatching MONDO:0032771 pheochromocytoma/paraganglioma syndrome 7 skos:exactMatch MEDGEN:1673088 semapv:UnspecifiedMatching MONDO:0032771 pheochromocytoma/paraganglioma syndrome 7 skos:exactMatch OMIM:618475 pheochromocytoma/paraganglioma syndrome 7 semapv:UnspecifiedMatching MONDO:0032771 pheochromocytoma/paraganglioma syndrome 7 skos:exactMatch UMLS:C5193116 semapv:UnspecifiedMatching MONDO:0032772 brain abnormalities, neurodegeneration, and dysosteosclerosis skos:exactMatch MEDGEN:1678789 semapv:UnspecifiedMatching MONDO:0032772 brain abnormalities, neurodegeneration, and dysosteosclerosis skos:exactMatch OMIM:618476 brain abnormalities, neurodegeneration, and dysosteosclerosis semapv:UnspecifiedMatching MONDO:0032772 brain abnormalities, neurodegeneration, and dysosteosclerosis skos:exactMatch UMLS:C5193117 semapv:UnspecifiedMatching MONDO:0032773 uridine-cytidineuria skos:exactMatch MEDGEN:1681582 semapv:UnspecifiedMatching MONDO:0032773 uridine-cytidineuria skos:exactMatch OMIM:618477 uridine-cytidineuria semapv:UnspecifiedMatching MONDO:0032773 uridine-cytidineuria skos:exactMatch UMLS:C4760647 semapv:UnspecifiedMatching MONDO:0032774 cerebellar, ocular, craniofacial, and genital syndrome skos:exactMatch MEDGEN:1680057 semapv:UnspecifiedMatching MONDO:0032774 cerebellar, ocular, craniofacial, and genital syndrome skos:exactMatch OMIM:618479 cerebellar, ocular, craniofacial, and genital syndrome semapv:UnspecifiedMatching MONDO:0032774 cerebellar, ocular, craniofacial, and genital syndrome skos:exactMatch UMLS:C5193118 semapv:UnspecifiedMatching MONDO:0032775 neurodevelopmental disorder with seizures and speech and walking impairment skos:exactMatch MEDGEN:1672912 semapv:UnspecifiedMatching MONDO:0032775 neurodevelopmental disorder with seizures and speech and walking impairment skos:exactMatch OMIM:618480 neurodevelopmental disorder with seizures and speech and walking impairment semapv:UnspecifiedMatching MONDO:0032775 neurodevelopmental disorder with seizures and speech and walking impairment skos:exactMatch UMLS:C5193119 semapv:UnspecifiedMatching MONDO:0032776 hearing loss, autosomal recessive 99 skos:exactMatch DOID:0111634 autosomal recessive nonsyndromic deafness 99 semapv:UnspecifiedMatching MONDO:0032776 hearing loss, autosomal recessive 99 skos:exactMatch MEDGEN:1678930 semapv:UnspecifiedMatching MONDO:0032776 hearing loss, autosomal recessive 99 skos:exactMatch OMIM:618481 deafness, autosomal recessive 99 semapv:UnspecifiedMatching MONDO:0032776 hearing loss, autosomal recessive 99 skos:exactMatch UMLS:C4760579 semapv:UnspecifiedMatching MONDO:0032777 generalized epilepsy with febrile seizures plus, type 10 skos:exactMatch DOID:0111296 generalized epilepsy with febrile seizures plus 10 semapv:UnspecifiedMatching MONDO:0032777 generalized epilepsy with febrile seizures plus, type 10 skos:exactMatch MEDGEN:1676426 semapv:UnspecifiedMatching MONDO:0032777 generalized epilepsy with febrile seizures plus, type 10 skos:exactMatch OMIM:618482 generalized epilepsy with febrile seizures plus, type 10 semapv:UnspecifiedMatching MONDO:0032777 generalized epilepsy with febrile seizures plus, type 10 skos:exactMatch UMLS:C5193120 semapv:UnspecifiedMatching MONDO:0032778 arthrogryposis multiplex congenita 3, myogenic type skos:exactMatch DOID:0080979 arthrogryposis multiplex congenita-3 semapv:UnspecifiedMatching MONDO:0032778 arthrogryposis multiplex congenita 3, myogenic type skos:exactMatch MEDGEN:1680655 semapv:UnspecifiedMatching MONDO:0032778 arthrogryposis multiplex congenita 3, myogenic type skos:exactMatch OMIM:618484 arthrogryposis multiplex congenita 3, myogenic type semapv:UnspecifiedMatching MONDO:0032778 arthrogryposis multiplex congenita 3, myogenic type skos:exactMatch UMLS:C5193121 semapv:UnspecifiedMatching MONDO:0032779 neurodevelopmental disorder with microcephaly and structural brain anomalies skos:exactMatch MEDGEN:1677276 semapv:UnspecifiedMatching MONDO:0032779 neurodevelopmental disorder with microcephaly and structural brain anomalies skos:exactMatch OMIM:618492 neurodevelopmental disorder with microcephaly and structural brain anomalies semapv:UnspecifiedMatching MONDO:0032779 neurodevelopmental disorder with microcephaly and structural brain anomalies skos:exactMatch Orphanet:699844 Microcephaly-corpus callosum hypoplasia-simplified gyral pattern-intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0032779 neurodevelopmental disorder with microcephaly and structural brain anomalies skos:exactMatch UMLS:C5193123 semapv:UnspecifiedMatching MONDO:0032780 hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities skos:exactMatch MEDGEN:1672905 semapv:UnspecifiedMatching MONDO:0032780 hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities skos:exactMatch OMIM:618493 hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities semapv:UnspecifiedMatching MONDO:0032780 hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities skos:exactMatch UMLS:C5193124 semapv:UnspecifiedMatching MONDO:0032781 congenital hypotonia, epilepsy, developmental delay, and digital anomalies skos:exactMatch MEDGEN:1674629 semapv:UnspecifiedMatching MONDO:0032781 congenital hypotonia, epilepsy, developmental delay, and digital anomalies skos:exactMatch OMIM:618494 congenital hypotonia, epilepsy, developmental delay, and digital anomalies semapv:UnspecifiedMatching MONDO:0032781 congenital hypotonia, epilepsy, developmental delay, and digital anomalies skos:exactMatch UMLS:C5193125 semapv:UnspecifiedMatching MONDO:0032782 immunodeficiency 63 with lymphoproliferation and autoimmunity skos:exactMatch DOID:0111997 immunodeficiency 63 semapv:UnspecifiedMatching MONDO:0032782 immunodeficiency 63 with lymphoproliferation and autoimmunity skos:exactMatch MEDGEN:1682943 semapv:UnspecifiedMatching MONDO:0032782 immunodeficiency 63 with lymphoproliferation and autoimmunity skos:exactMatch OMIM:618495 immunodeficiency 63 with lymphoproliferation and autoimmunity semapv:UnspecifiedMatching MONDO:0032782 immunodeficiency 63 with lymphoproliferation and autoimmunity skos:exactMatch UMLS:C5193126 semapv:UnspecifiedMatching MONDO:0032783 aortic valve disease 3 skos:exactMatch DOID:0080977 aortic valve disease 3 semapv:UnspecifiedMatching MONDO:0032783 aortic valve disease 3 skos:exactMatch MEDGEN:1681142 semapv:UnspecifiedMatching MONDO:0032783 aortic valve disease 3 skos:exactMatch OMIM:618496 aortic valve disease 3 semapv:UnspecifiedMatching MONDO:0032783 aortic valve disease 3 skos:exactMatch UMLS:C5193127 semapv:UnspecifiedMatching MONDO:0032784 neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements skos:exactMatch MEDGEN:1678038 semapv:UnspecifiedMatching MONDO:0032784 neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements skos:exactMatch OMIM:618497 neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements semapv:UnspecifiedMatching MONDO:0032784 neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements skos:exactMatch UMLS:C5193128 semapv:UnspecifiedMatching MONDO:0032785 polydactyly, postaxial, type a10 skos:exactMatch MEDGEN:1676955 semapv:UnspecifiedMatching MONDO:0032785 polydactyly, postaxial, type a10 skos:exactMatch OMIM:618498 polydactyly, postaxial, type a10 semapv:UnspecifiedMatching MONDO:0032785 polydactyly, postaxial, type a10 skos:exactMatch UMLS:C5193129 semapv:UnspecifiedMatching MONDO:0032786 Noonan syndrome 11 skos:exactMatch DOID:0112169 Noonan syndrome 11 semapv:UnspecifiedMatching MONDO:0032786 Noonan syndrome 11 skos:exactMatch MEDGEN:1681177 semapv:UnspecifiedMatching MONDO:0032786 Noonan syndrome 11 skos:exactMatch NCIT:C177119 Noonan Syndrome 11 semapv:UnspecifiedMatching MONDO:0032786 Noonan syndrome 11 skos:exactMatch OMIM:618499 noonan syndrome 11 semapv:UnspecifiedMatching MONDO:0032786 Noonan syndrome 11 skos:exactMatch UMLS:C5193130 semapv:UnspecifiedMatching MONDO:0032787 holoprosencephaly 12 with or without pancreatic agenesis skos:exactMatch DOID:0081398 holoprosencephaly 12 semapv:UnspecifiedMatching MONDO:0032787 holoprosencephaly 12 with or without pancreatic agenesis skos:exactMatch MEDGEN:1684550 semapv:UnspecifiedMatching MONDO:0032787 holoprosencephaly 12 with or without pancreatic agenesis skos:exactMatch OMIM:618500 holoprosencephaly 12 with or without pancreatic agenesis semapv:UnspecifiedMatching MONDO:0032787 holoprosencephaly 12 with or without pancreatic agenesis skos:exactMatch UMLS:C5193131 semapv:UnspecifiedMatching MONDO:0032788 cerebellar atrophy with seizures and variable developmental delay skos:exactMatch MEDGEN:1683734 semapv:UnspecifiedMatching MONDO:0032788 cerebellar atrophy with seizures and variable developmental delay skos:exactMatch OMIM:618501 cerebellar atrophy with seizures and variable developmental delay semapv:UnspecifiedMatching MONDO:0032788 cerebellar atrophy with seizures and variable developmental delay skos:exactMatch UMLS:C5193132 semapv:UnspecifiedMatching MONDO:0032789 intellectual developmental disorder, autosomal recessive 71 skos:exactMatch DOID:0081232 autosomal recessive intellectual developmental disorder 71 semapv:UnspecifiedMatching MONDO:0032789 intellectual developmental disorder, autosomal recessive 71 skos:exactMatch MEDGEN:1673448 semapv:UnspecifiedMatching MONDO:0032789 intellectual developmental disorder, autosomal recessive 71 skos:exactMatch OMIM:618504 intellectual developmental disorder, autosomal recessive 71 semapv:UnspecifiedMatching MONDO:0032789 intellectual developmental disorder, autosomal recessive 71 skos:exactMatch UMLS:C5193133 semapv:UnspecifiedMatching MONDO:0032790 neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities skos:exactMatch DOID:0081443 Stolerman neurodevelopmental syndrome semapv:UnspecifiedMatching MONDO:0032790 neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities skos:exactMatch MEDGEN:1682403 semapv:UnspecifiedMatching MONDO:0032790 neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities skos:exactMatch OMIM:618505 stolerman neurodevelopmental syndrome semapv:UnspecifiedMatching MONDO:0032790 neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities skos:exactMatch UMLS:C5193134 semapv:UnspecifiedMatching MONDO:0032791 Coffin-Siris syndrome 10 skos:exactMatch DOID:0112371 Coffin-Siris syndrome 10 semapv:UnspecifiedMatching MONDO:0032791 Coffin-Siris syndrome 10 skos:exactMatch MEDGEN:1683634 semapv:UnspecifiedMatching MONDO:0032791 Coffin-Siris syndrome 10 skos:exactMatch OMIM:618506 intellectual developmental disorder with speech delay and dysmorphic facies semapv:UnspecifiedMatching MONDO:0032791 Coffin-Siris syndrome 10 skos:exactMatch UMLS:C4760583 semapv:UnspecifiedMatching MONDO:0032792 neuropathy, hereditary motor and sensory, type VIc, with optic atrophy skos:exactMatch MEDGEN:1680245 semapv:UnspecifiedMatching MONDO:0032792 neuropathy, hereditary motor and sensory, type VIc, with optic atrophy skos:exactMatch OMIM:618511 neuropathy, hereditary motor and sensory, type vic, with optic atrophy semapv:UnspecifiedMatching MONDO:0032792 neuropathy, hereditary motor and sensory, type VIc, with optic atrophy skos:exactMatch UMLS:C5193137 semapv:UnspecifiedMatching MONDO:0032793 O'Donnell-Luria-Rodan syndrome skos:exactMatch MEDGEN:1677602 semapv:UnspecifiedMatching MONDO:0032793 O'Donnell-Luria-Rodan syndrome skos:exactMatch OMIM:618512 o'donnell-luria-rodan syndrome semapv:UnspecifiedMatching MONDO:0032793 O'Donnell-Luria-Rodan syndrome skos:exactMatch UMLS:C5193138 semapv:UnspecifiedMatching MONDO:0032794 Leber congenital amaurosis 19 skos:exactMatch DOID:0081169 Leber congenital amaurosis 19 semapv:UnspecifiedMatching MONDO:0032794 Leber congenital amaurosis 19 skos:exactMatch MEDGEN:1679297 semapv:UnspecifiedMatching MONDO:0032794 Leber congenital amaurosis 19 skos:exactMatch OMIM:618513 leber congenital amaurosis 19 semapv:UnspecifiedMatching MONDO:0032794 Leber congenital amaurosis 19 skos:exactMatch UMLS:C5193139 semapv:UnspecifiedMatching MONDO:0032795 intellectual developmental disorder 59 skos:exactMatch DOID:0061033 autosomal dominant intellectual developmental disorder 59 semapv:UnspecifiedMatching MONDO:0032795 intellectual developmental disorder 59 skos:exactMatch MEDGEN:1678593 semapv:UnspecifiedMatching MONDO:0032795 intellectual developmental disorder 59 skos:exactMatch OMIM:618522 intellectual developmental disorder, autosomal dominant 59 semapv:UnspecifiedMatching MONDO:0032795 intellectual developmental disorder 59 skos:exactMatch UMLS:C5193190 semapv:UnspecifiedMatching MONDO:0032796 hyper-IgE recurrent infection syndrome 4, autosomal recessive skos:exactMatch DOID:0080596 hyper IgE recurrent infection syndrome 4 semapv:UnspecifiedMatching MONDO:0032796 hyper-IgE recurrent infection syndrome 4, autosomal recessive skos:exactMatch MEDGEN:1673363 semapv:UnspecifiedMatching MONDO:0032796 hyper-IgE recurrent infection syndrome 4, autosomal recessive skos:exactMatch OMIM:618523 hyper-ige syndrome 4b, autosomal recessive, with recurrent infections semapv:UnspecifiedMatching MONDO:0032796 hyper-IgE recurrent infection syndrome 4, autosomal recessive skos:exactMatch UMLS:C5193141 semapv:UnspecifiedMatching MONDO:0032797 myopathy, congenital, with tremor skos:exactMatch DOID:0081348 congenital myopathy 16 semapv:UnspecifiedMatching MONDO:0032797 myopathy, congenital, with tremor skos:exactMatch MEDGEN:1684886 semapv:UnspecifiedMatching MONDO:0032797 myopathy, congenital, with tremor skos:exactMatch OMIM:618524 congenital myopathy 16 semapv:UnspecifiedMatching MONDO:0032797 myopathy, congenital, with tremor skos:exactMatch UMLS:C5231401 semapv:UnspecifiedMatching MONDO:0032798 ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features skos:exactMatch MEDGEN:1682428 semapv:UnspecifiedMatching MONDO:0032798 ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features skos:exactMatch OMIM:618527 ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features semapv:UnspecifiedMatching MONDO:0032798 ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features skos:exactMatch UMLS:C5193147 semapv:UnspecifiedMatching MONDO:0032799 mitochondrial DNA depletion syndrome 16 (hepatic type) skos:exactMatch DOID:0070446 mitochondrial DNA depletion syndrome 16 semapv:UnspecifiedMatching MONDO:0032799 mitochondrial DNA depletion syndrome 16 (hepatic type) skos:exactMatch MEDGEN:1684495 semapv:UnspecifiedMatching MONDO:0032799 mitochondrial DNA depletion syndrome 16 (hepatic type) skos:exactMatch OMIM:618528 mitochondrial DNA depletion syndrome 16 (hepatic type) semapv:UnspecifiedMatching MONDO:0032799 mitochondrial DNA depletion syndrome 16 (hepatic type) skos:exactMatch UMLS:C5193142 semapv:UnspecifiedMatching MONDO:0032800 robinow syndrome, autosomal recessive 2 skos:exactMatch DOID:0060974 autosomal recessive Robinow syndrome 2 semapv:UnspecifiedMatching MONDO:0032800 robinow syndrome, autosomal recessive 2 skos:exactMatch MEDGEN:1676687 semapv:UnspecifiedMatching MONDO:0032800 robinow syndrome, autosomal recessive 2 skos:exactMatch OMIM:618529 robinow syndrome, autosomal recessive 2 semapv:UnspecifiedMatching MONDO:0032800 robinow syndrome, autosomal recessive 2 skos:exactMatch UMLS:C5193143 semapv:UnspecifiedMatching MONDO:0032801 erythrokeratodermia variabilis et progressiva 6 skos:exactMatch DOID:0080766 erythrokeratodermia variabilis et progressiva 6 semapv:UnspecifiedMatching MONDO:0032801 erythrokeratodermia variabilis et progressiva 6 skos:exactMatch MEDGEN:1681026 semapv:UnspecifiedMatching MONDO:0032801 erythrokeratodermia variabilis et progressiva 6 skos:exactMatch OMIM:618531 erythrokeratodermia variabilis et progressiva 6 semapv:UnspecifiedMatching MONDO:0032801 erythrokeratodermia variabilis et progressiva 6 skos:exactMatch UMLS:C5193144 semapv:UnspecifiedMatching MONDO:0032802 hearing loss, autosomal dominant 37 skos:exactMatch DOID:0070601 autosomal dominant nonsyndromic deafness 37 semapv:UnspecifiedMatching MONDO:0032802 hearing loss, autosomal dominant 37 skos:exactMatch MEDGEN:1676950 semapv:UnspecifiedMatching MONDO:0032802 hearing loss, autosomal dominant 37 skos:exactMatch OMIM:618533 deafness, autosomal dominant 37 semapv:UnspecifiedMatching MONDO:0032802 hearing loss, autosomal dominant 37 skos:exactMatch UMLS:C4760307 semapv:UnspecifiedMatching MONDO:0032803 immunodeficiency 64 skos:exactMatch DOID:0111980 immunodeficiency 64 semapv:UnspecifiedMatching MONDO:0032803 immunodeficiency 64 skos:exactMatch MEDGEN:1684716 semapv:UnspecifiedMatching MONDO:0032803 immunodeficiency 64 skos:exactMatch OMIM:618534 immunodeficiency 64 with lymphoproliferation semapv:UnspecifiedMatching MONDO:0032803 immunodeficiency 64 skos:exactMatch Orphanet:664699 EBV-induced lymphoproliferative disease due to RASGRP1 deficiency semapv:UnspecifiedMatching MONDO:0032803 immunodeficiency 64 skos:exactMatch UMLS:C5231402 semapv:UnspecifiedMatching MONDO:0032804 ectodermal dysplasia 15, hypohidrotic/hair type skos:exactMatch DOID:0111651 ectodermal dysplasia 15 semapv:UnspecifiedMatching MONDO:0032804 ectodermal dysplasia 15, hypohidrotic/hair type skos:exactMatch MEDGEN:1680605 semapv:UnspecifiedMatching MONDO:0032804 ectodermal dysplasia 15, hypohidrotic/hair type skos:exactMatch OMIM:618535 ectodermal dysplasia 15, hypohidrotic/hair type semapv:UnspecifiedMatching MONDO:0032804 ectodermal dysplasia 15, hypohidrotic/hair type skos:exactMatch UMLS:C5193145 semapv:UnspecifiedMatching MONDO:0032805 hypopigmentation, organomegaly, and delayed myelination and development skos:exactMatch MEDGEN:1684826 semapv:UnspecifiedMatching MONDO:0032805 hypopigmentation, organomegaly, and delayed myelination and development skos:exactMatch OMIM:618541 hypopigmentation, organomegaly, and delayed myelination and development semapv:UnspecifiedMatching MONDO:0032805 hypopigmentation, organomegaly, and delayed myelination and development skos:exactMatch UMLS:C5203300 semapv:UnspecifiedMatching MONDO:0032806 trichothiodystrophy 7, nonphotosensitive skos:exactMatch DOID:0111870 nonphotosensitive trichothiodystrophy 7 semapv:UnspecifiedMatching MONDO:0032806 trichothiodystrophy 7, nonphotosensitive skos:exactMatch MEDGEN:1684762 semapv:UnspecifiedMatching MONDO:0032806 trichothiodystrophy 7, nonphotosensitive skos:exactMatch NCIT:C173102 Trichothiodystrophy 7, Nonphotosensitive semapv:UnspecifiedMatching MONDO:0032806 trichothiodystrophy 7, nonphotosensitive skos:exactMatch OMIM:618546 trichothiodystrophy 7, nonphotosensitive semapv:UnspecifiedMatching MONDO:0032806 trichothiodystrophy 7, nonphotosensitive skos:exactMatch UMLS:C5231403 semapv:UnspecifiedMatching MONDO:0032807 neurodevelopmental disorder with visual defects and brain anomalies skos:exactMatch MEDGEN:1684774 semapv:UnspecifiedMatching MONDO:0032807 neurodevelopmental disorder with visual defects and brain anomalies skos:exactMatch OMIM:618547 neurodevelopmental disorder with visual defects and brain anomalies semapv:UnspecifiedMatching MONDO:0032807 neurodevelopmental disorder with visual defects and brain anomalies skos:exactMatch UMLS:C5231404 semapv:UnspecifiedMatching MONDO:0032808 developmental and epileptic encephalopathy, 77 skos:exactMatch DOID:0112213 multiple congenital anomalies-hypotonia-seizures syndrome 4 semapv:UnspecifiedMatching MONDO:0032808 developmental and epileptic encephalopathy, 77 skos:exactMatch MEDGEN:1684735 semapv:UnspecifiedMatching MONDO:0032808 developmental and epileptic encephalopathy, 77 skos:exactMatch OMIM:618548 multiple congenital anomalies-hypotonia-seizures syndrome 4 semapv:UnspecifiedMatching MONDO:0032808 developmental and epileptic encephalopathy, 77 skos:exactMatch UMLS:C5231405 semapv:UnspecifiedMatching MONDO:0032809 hepatitis, fulminant viral, susceptibility to skos:exactMatch MEDGEN:1684882 semapv:UnspecifiedMatching MONDO:0032809 hepatitis, fulminant viral, susceptibility to skos:exactMatch OMIM:618549 hepatitis, fulminant viral, susceptibility to semapv:UnspecifiedMatching MONDO:0032809 hepatitis, fulminant viral, susceptibility to skos:exactMatch UMLS:C5231406 semapv:UnspecifiedMatching MONDO:0032810 oocyte maturation defect 7 skos:exactMatch MEDGEN:1684736 semapv:UnspecifiedMatching MONDO:0032810 oocyte maturation defect 7 skos:exactMatch OMIM:618550 oocyte/zygote/embryo maturation arrest 7 semapv:UnspecifiedMatching MONDO:0032810 oocyte maturation defect 7 skos:exactMatch UMLS:C5231407 semapv:UnspecifiedMatching MONDO:0032811 night blindness, congenital stationary, type1i skos:exactMatch MEDGEN:1684817 semapv:UnspecifiedMatching MONDO:0032811 night blindness, congenital stationary, type1i skos:exactMatch OMIM:618555 night blindness, congenital stationary, type1i semapv:UnspecifiedMatching MONDO:0032811 night blindness, congenital stationary, type1i skos:exactMatch UMLS:C5231408 semapv:UnspecifiedMatching MONDO:0032812 developmental and epileptic encephalopathy, 78 skos:exactMatch DOID:0112214 developmental and epileptic encephalopathy 78 semapv:UnspecifiedMatching MONDO:0032812 developmental and epileptic encephalopathy, 78 skos:exactMatch MEDGEN:1684724 semapv:UnspecifiedMatching MONDO:0032812 developmental and epileptic encephalopathy, 78 skos:exactMatch OMIM:618557 developmental and epileptic encephalopathy 78 semapv:UnspecifiedMatching MONDO:0032812 developmental and epileptic encephalopathy, 78 skos:exactMatch UMLS:C5231409 semapv:UnspecifiedMatching MONDO:0032813 developmental and epileptic encephalopathy, 79 skos:exactMatch DOID:0112215 developmental and epileptic encephalopathy 79 semapv:UnspecifiedMatching MONDO:0032813 developmental and epileptic encephalopathy, 79 skos:exactMatch MEDGEN:1684738 semapv:UnspecifiedMatching MONDO:0032813 developmental and epileptic encephalopathy, 79 skos:exactMatch OMIM:618559 developmental and epileptic encephalopathy 79 semapv:UnspecifiedMatching MONDO:0032813 developmental and epileptic encephalopathy, 79 skos:exactMatch UMLS:C5231410 semapv:UnspecifiedMatching MONDO:0032814 microangiopathy and leukoencephalopathy, pontine, autosomal dominant skos:exactMatch MEDGEN:1684781 semapv:UnspecifiedMatching MONDO:0032814 microangiopathy and leukoencephalopathy, pontine, autosomal dominant skos:exactMatch OMIM:618564 microangiopathy and leukoencephalopathy, pontine, autosomal dominant semapv:UnspecifiedMatching MONDO:0032814 microangiopathy and leukoencephalopathy, pontine, autosomal dominant skos:exactMatch Orphanet:477749 Pontine autosomal dominant microangiopathy with leukoencephalopathy semapv:UnspecifiedMatching MONDO:0032814 microangiopathy and leukoencephalopathy, pontine, autosomal dominant skos:exactMatch UMLS:C5231411 semapv:UnspecifiedMatching MONDO:0032815 mitochondrial DNA depletion syndrome 17 skos:exactMatch DOID:0070448 mitochondrial DNA depletion syndrome 17 semapv:UnspecifiedMatching MONDO:0032815 mitochondrial DNA depletion syndrome 17 skos:exactMatch MEDGEN:1684823 semapv:UnspecifiedMatching MONDO:0032815 mitochondrial DNA depletion syndrome 17 skos:exactMatch OMIM:618567 mitochondrial DNA depletion syndrome 17 semapv:UnspecifiedMatching MONDO:0032815 mitochondrial DNA depletion syndrome 17 skos:exactMatch UMLS:C5231412 semapv:UnspecifiedMatching MONDO:0032816 neurodevelopmental disorder with ataxia, hypotonia, and microcephaly skos:exactMatch MEDGEN:1684871 semapv:UnspecifiedMatching MONDO:0032816 neurodevelopmental disorder with ataxia, hypotonia, and microcephaly skos:exactMatch OMIM:618569 neurodevelopmental disorder with ataxia, hypotonia, and microcephaly semapv:UnspecifiedMatching MONDO:0032816 neurodevelopmental disorder with ataxia, hypotonia, and microcephaly skos:exactMatch UMLS:C5231413 semapv:UnspecifiedMatching MONDO:0032817 neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies skos:exactMatch DOID:0070346 neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies semapv:UnspecifiedMatching MONDO:0032817 neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies skos:exactMatch MEDGEN:1684661 semapv:UnspecifiedMatching MONDO:0032817 neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies skos:exactMatch OMIM:618571 neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies semapv:UnspecifiedMatching MONDO:0032817 neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies skos:exactMatch UMLS:C5231414 semapv:UnspecifiedMatching MONDO:0032818 neurodevelopmental disorder with cerebellar hypoplasia and spasticity skos:exactMatch MEDGEN:1684815 semapv:UnspecifiedMatching MONDO:0032818 neurodevelopmental disorder with cerebellar hypoplasia and spasticity skos:exactMatch OMIM:618572 neurodevelopmental disorder with cerebellar hypoplasia and spasticity semapv:UnspecifiedMatching MONDO:0032818 neurodevelopmental disorder with cerebellar hypoplasia and spasticity skos:exactMatch UMLS:C5231415 semapv:UnspecifiedMatching MONDO:0032819 hypothyroidism, congenital, nongoitrous, 7 skos:exactMatch DOID:0111836 congenital nongoitrous hypothyroidism 7 semapv:UnspecifiedMatching MONDO:0032819 hypothyroidism, congenital, nongoitrous, 7 skos:exactMatch MEDGEN:349957 semapv:UnspecifiedMatching MONDO:0032819 hypothyroidism, congenital, nongoitrous, 7 skos:exactMatch OMIM:618573 hypothyroidism, congenital, nongoitrous, 7 semapv:UnspecifiedMatching MONDO:0032819 hypothyroidism, congenital, nongoitrous, 7 skos:exactMatch Orphanet:99832 Resistance to thyrotropin-releasing hormone syndrome semapv:UnspecifiedMatching MONDO:0032819 hypothyroidism, congenital, nongoitrous, 7 skos:exactMatch SCTID:725462002 semapv:UnspecifiedMatching MONDO:0032819 hypothyroidism, congenital, nongoitrous, 7 skos:exactMatch UMLS:C1861106 semapv:UnspecifiedMatching MONDO:0032820 neurodevelopmental disorder with structural brain anomalies and dysmorphic facies skos:exactMatch MEDGEN:1684725 semapv:UnspecifiedMatching MONDO:0032820 neurodevelopmental disorder with structural brain anomalies and dysmorphic facies skos:exactMatch OMIM:618577 neurodevelopmental disorder with structural brain anomalies and dysmorphic facies semapv:UnspecifiedMatching MONDO:0032820 neurodevelopmental disorder with structural brain anomalies and dysmorphic facies skos:exactMatch Orphanet:659609 Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome semapv:UnspecifiedMatching MONDO:0032820 neurodevelopmental disorder with structural brain anomalies and dysmorphic facies skos:exactMatch UMLS:C5231416 semapv:UnspecifiedMatching MONDO:0032821 myopathy, congenital, progressive, with scoliosis skos:exactMatch DOID:0081351 congenital myopathy 19 semapv:UnspecifiedMatching MONDO:0032821 myopathy, congenital, progressive, with scoliosis skos:exactMatch MEDGEN:1684769 semapv:UnspecifiedMatching MONDO:0032821 myopathy, congenital, progressive, with scoliosis skos:exactMatch OMIM:618578 congenital myopathy 19 semapv:UnspecifiedMatching MONDO:0032821 myopathy, congenital, progressive, with scoliosis skos:exactMatch UMLS:C5231417 semapv:UnspecifiedMatching MONDO:0032822 developmental and epileptic encephalopathy, 80 skos:exactMatch DOID:0112216 developmental and epileptic encephalopathy 80 semapv:UnspecifiedMatching MONDO:0032822 developmental and epileptic encephalopathy, 80 skos:exactMatch MEDGEN:1684779 semapv:UnspecifiedMatching MONDO:0032822 developmental and epileptic encephalopathy, 80 skos:exactMatch OMIM:618580 developmental and epileptic encephalopathy 80 semapv:UnspecifiedMatching MONDO:0032822 developmental and epileptic encephalopathy, 80 skos:exactMatch UMLS:C5231418 semapv:UnspecifiedMatching MONDO:0032823 intellectual developmental disorder 60 with seizures skos:exactMatch DOID:0061050 autosomal dominant intellectual developmental disorder 60 with seizures semapv:UnspecifiedMatching MONDO:0032823 intellectual developmental disorder 60 with seizures skos:exactMatch MEDGEN:1684702 semapv:UnspecifiedMatching MONDO:0032823 intellectual developmental disorder 60 with seizures skos:exactMatch OMIM:618587 intellectual developmental disorder, autosomal dominant 60, with seizures semapv:UnspecifiedMatching MONDO:0032823 intellectual developmental disorder 60 with seizures skos:exactMatch UMLS:C5231497 semapv:UnspecifiedMatching MONDO:0032824 glycosylphosphatidylinositol biosynthesis defect 21 skos:exactMatch MEDGEN:1684749 semapv:UnspecifiedMatching MONDO:0032824 glycosylphosphatidylinositol biosynthesis defect 21 skos:exactMatch OMIM:618590 neurodevelopmental disorder with brain anomalies, seizures, and scoliosis semapv:UnspecifiedMatching MONDO:0032824 glycosylphosphatidylinositol biosynthesis defect 21 skos:exactMatch UMLS:C5231419 semapv:UnspecifiedMatching MONDO:0032826 nephrotic syndrome, type 21 skos:exactMatch DOID:0112267 nephrotic syndrome type 21 semapv:UnspecifiedMatching MONDO:0032826 nephrotic syndrome, type 21 skos:exactMatch MEDGEN:1684676 semapv:UnspecifiedMatching MONDO:0032826 nephrotic syndrome, type 21 skos:exactMatch OMIM:618594 nephrotic syndrome, type 21 semapv:UnspecifiedMatching MONDO:0032826 nephrotic syndrome, type 21 skos:exactMatch UMLS:C5231498 semapv:UnspecifiedMatching MONDO:0032827 epilepsy, idiopathic generalized, susceptibility to, 16 skos:exactMatch MEDGEN:1684869 semapv:UnspecifiedMatching MONDO:0032827 epilepsy, idiopathic generalized, susceptibility to, 16 skos:exactMatch OMIM:618596 epilepsy, idiopathic generalized, susceptibility to, 16 semapv:UnspecifiedMatching MONDO:0032827 epilepsy, idiopathic generalized, susceptibility to, 16 skos:exactMatch UMLS:C5231421 semapv:UnspecifiedMatching MONDO:0032828 spastic tetraplegia and axial hypotonia, progressive skos:exactMatch MEDGEN:1684731 semapv:UnspecifiedMatching MONDO:0032828 spastic tetraplegia and axial hypotonia, progressive skos:exactMatch OMIM:618598 spastic tetraplegia and axial hypotonia, progressive semapv:UnspecifiedMatching MONDO:0032828 spastic tetraplegia and axial hypotonia, progressive skos:exactMatch UMLS:C5231422 semapv:UnspecifiedMatching MONDO:0032829 neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities skos:exactMatch MEDGEN:1684818 semapv:UnspecifiedMatching MONDO:0032829 neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities skos:exactMatch OMIM:618603 neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities semapv:UnspecifiedMatching MONDO:0032829 neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities skos:exactMatch UMLS:C5231423 semapv:UnspecifiedMatching MONDO:0032830 snijders blok-fisher syndrome skos:exactMatch MEDGEN:1684801 semapv:UnspecifiedMatching MONDO:0032830 snijders blok-fisher syndrome skos:exactMatch OMIM:618604 snijders blok-fisher syndrome semapv:UnspecifiedMatching MONDO:0032830 snijders blok-fisher syndrome skos:exactMatch Orphanet:656135 Intellectual disability-cupped ears syndrome semapv:UnspecifiedMatching MONDO:0032830 snijders blok-fisher syndrome skos:exactMatch UMLS:C5231424 semapv:UnspecifiedMatching MONDO:0032831 pontocerebellar hypoplasia, type 13 skos:exactMatch DOID:0112332 pontocerebellar hypoplasia type 13 semapv:UnspecifiedMatching MONDO:0032831 pontocerebellar hypoplasia, type 13 skos:exactMatch MEDGEN:1684708 semapv:UnspecifiedMatching MONDO:0032831 pontocerebellar hypoplasia, type 13 skos:exactMatch OMIM:618606 pontocerebellar hypoplasia, type 13 semapv:UnspecifiedMatching MONDO:0032831 pontocerebellar hypoplasia, type 13 skos:exactMatch Orphanet:613267 Pontocerebellar hypoplasia type 13 semapv:UnspecifiedMatching MONDO:0032831 pontocerebellar hypoplasia, type 13 skos:exactMatch UMLS:C5231425 semapv:UnspecifiedMatching MONDO:0032832 intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies skos:exactMatch MEDGEN:1684881 semapv:UnspecifiedMatching MONDO:0032832 intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies skos:exactMatch OMIM:618608 intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies semapv:UnspecifiedMatching MONDO:0032832 intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies skos:exactMatch Orphanet:697760 Intellectual disability-nasal speech-craniofacial dysmorphism syndrome semapv:UnspecifiedMatching MONDO:0032832 intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies skos:exactMatch Orphanet:697764 Intellectual disability-nasal speech-craniofacial dysmorphism syndrome due to CNOT2 mutation semapv:UnspecifiedMatching MONDO:0032832 intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies skos:exactMatch UMLS:C5231426 semapv:UnspecifiedMatching MONDO:0032833 lower urinary tract obstruction, congenital skos:exactMatch MEDGEN:1684849 semapv:UnspecifiedMatching MONDO:0032833 lower urinary tract obstruction, congenital skos:exactMatch OMIM:618612 lower urinary tract obstruction, congenital semapv:UnspecifiedMatching MONDO:0032833 lower urinary tract obstruction, congenital skos:exactMatch UMLS:C5231427 semapv:UnspecifiedMatching MONDO:0032834 retinitis pigmentosa 86 skos:exactMatch DOID:0112143 retinitis pigmentosa 86 semapv:UnspecifiedMatching MONDO:0032834 retinitis pigmentosa 86 skos:exactMatch MEDGEN:1684789 semapv:UnspecifiedMatching MONDO:0032834 retinitis pigmentosa 86 skos:exactMatch OMIM:618613 retinitis pigmentosa 86 semapv:UnspecifiedMatching MONDO:0032834 retinitis pigmentosa 86 skos:exactMatch UMLS:C5231428 semapv:UnspecifiedMatching MONDO:0032835 spondyloepiphyseal dysplasia, nishimura type skos:exactMatch DOID:0112288 spondyloepiphyseal dysplasia Nishimura type semapv:UnspecifiedMatching MONDO:0032835 spondyloepiphyseal dysplasia, nishimura type skos:exactMatch MEDGEN:930816 semapv:UnspecifiedMatching MONDO:0032835 spondyloepiphyseal dysplasia, nishimura type skos:exactMatch OMIM:618618 spondyloepiphyseal dysplasia, nishimura type semapv:UnspecifiedMatching MONDO:0032835 spondyloepiphyseal dysplasia, nishimura type skos:exactMatch UMLS:C4305147 semapv:UnspecifiedMatching MONDO:0032835 spondyloepiphyseal dysplasia, nishimura type skos:exactMatch icd11.foundation:523290419 Spondyloepiphyseal dysplasia, Nishimura type semapv:UnspecifiedMatching MONDO:0032836 Weiss-Kruszka syndrome skos:exactMatch MEDGEN:1799530 semapv:UnspecifiedMatching MONDO:0032836 Weiss-Kruszka syndrome skos:exactMatch OMIM:618619 weiss-kruszka syndrome semapv:UnspecifiedMatching MONDO:0032836 Weiss-Kruszka syndrome skos:exactMatch Orphanet:502430 Weiss-Kruszka Syndrome semapv:UnspecifiedMatching MONDO:0032836 Weiss-Kruszka syndrome skos:exactMatch UMLS:C5568107 semapv:UnspecifiedMatching MONDO:0032837 abdominal obesity-metabolic syndrome 4 skos:exactMatch DOID:0080945 abdominal obesity-metabolic syndrome 4 semapv:UnspecifiedMatching MONDO:0032837 abdominal obesity-metabolic syndrome 4 skos:exactMatch MEDGEN:1704861 semapv:UnspecifiedMatching MONDO:0032837 abdominal obesity-metabolic syndrome 4 skos:exactMatch OMIM:618620 abdominal obesity-metabolic syndrome 4 semapv:UnspecifiedMatching MONDO:0032837 abdominal obesity-metabolic syndrome 4 skos:exactMatch UMLS:C5231430 semapv:UnspecifiedMatching MONDO:0032838 neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies skos:exactMatch MEDGEN:1684840 semapv:UnspecifiedMatching MONDO:0032838 neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies skos:exactMatch OMIM:618622 neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies semapv:UnspecifiedMatching MONDO:0032838 neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies skos:exactMatch Orphanet:664923 Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome semapv:UnspecifiedMatching MONDO:0032838 neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies skos:exactMatch UMLS:C5231431 semapv:UnspecifiedMatching MONDO:0032839 noonan syndrome 12 skos:exactMatch DOID:0112170 Noonan syndrome 12 semapv:UnspecifiedMatching MONDO:0032839 noonan syndrome 12 skos:exactMatch MEDGEN:1684730 semapv:UnspecifiedMatching MONDO:0032839 noonan syndrome 12 skos:exactMatch NCIT:C177120 Noonan Syndrome 12 semapv:UnspecifiedMatching MONDO:0032839 noonan syndrome 12 skos:exactMatch OMIM:618624 noonan syndrome 12 semapv:UnspecifiedMatching MONDO:0032839 noonan syndrome 12 skos:exactMatch UMLS:C5231432 semapv:UnspecifiedMatching MONDO:0032841 Usher syndrome, type 1M skos:exactMatch MEDGEN:1684669 semapv:UnspecifiedMatching MONDO:0032841 Usher syndrome, type 1M skos:exactMatch OMIM:618632 usher syndrome, type 1m semapv:UnspecifiedMatching MONDO:0032841 Usher syndrome, type 1M skos:exactMatch UMLS:C5231434 semapv:UnspecifiedMatching MONDO:0032842 Siddiqi syndrome skos:exactMatch DOID:0081273 Siddiqi syndrome semapv:UnspecifiedMatching MONDO:0032842 Siddiqi syndrome skos:exactMatch MEDGEN:1684813 semapv:UnspecifiedMatching MONDO:0032842 Siddiqi syndrome skos:exactMatch OMIM:618635 siddiqi syndrome semapv:UnspecifiedMatching MONDO:0032842 Siddiqi syndrome skos:exactMatch UMLS:C5231435 semapv:UnspecifiedMatching MONDO:0032843 oculopharyngeal myopathy with leukoencephalopathy 1 skos:exactMatch MEDGEN:1684701 semapv:UnspecifiedMatching MONDO:0032843 oculopharyngeal myopathy with leukoencephalopathy 1 skos:exactMatch OMIM:618637 oculopharyngeal myopathy with leukoencephalopathy 1 semapv:UnspecifiedMatching MONDO:0032843 oculopharyngeal myopathy with leukoencephalopathy 1 skos:exactMatch UMLS:C5231436 semapv:UnspecifiedMatching MONDO:0032844 infantile liver failure syndrome 3 skos:exactMatch MEDGEN:1684678 semapv:UnspecifiedMatching MONDO:0032844 infantile liver failure syndrome 3 skos:exactMatch OMIM:618641 infantile liver failure syndrome 3 semapv:UnspecifiedMatching MONDO:0032844 infantile liver failure syndrome 3 skos:exactMatch UMLS:C5231437 semapv:UnspecifiedMatching MONDO:0032845 spermatogenic failure 39 skos:exactMatch DOID:0111926 spermatogenic failure 39 semapv:UnspecifiedMatching MONDO:0032845 spermatogenic failure 39 skos:exactMatch MEDGEN:1684778 semapv:UnspecifiedMatching MONDO:0032845 spermatogenic failure 39 skos:exactMatch OMIM:618643 spermatogenic failure 39 semapv:UnspecifiedMatching MONDO:0032845 spermatogenic failure 39 skos:exactMatch UMLS:C5231438 semapv:UnspecifiedMatching MONDO:0032846 osteogenesis imperfecta, type 20 skos:exactMatch DOID:0111849 osteogenesis imperfecta type 20 semapv:UnspecifiedMatching MONDO:0032846 osteogenesis imperfecta, type 20 skos:exactMatch MEDGEN:1684751 semapv:UnspecifiedMatching MONDO:0032846 osteogenesis imperfecta, type 20 skos:exactMatch OMIM:618644 osteogenesis imperfecta, type 20 semapv:UnspecifiedMatching MONDO:0032846 osteogenesis imperfecta, type 20 skos:exactMatch UMLS:C5231439 semapv:UnspecifiedMatching MONDO:0032848 immunodeficiency 65, susceptibility to viral infections skos:exactMatch DOID:0111978 immunodeficiency 65 semapv:UnspecifiedMatching MONDO:0032848 immunodeficiency 65, susceptibility to viral infections skos:exactMatch MEDGEN:1684865 semapv:UnspecifiedMatching MONDO:0032848 immunodeficiency 65, susceptibility to viral infections skos:exactMatch OMIM:618648 immunodeficiency 65, susceptibility to viral infections semapv:UnspecifiedMatching MONDO:0032848 immunodeficiency 65, susceptibility to viral infections skos:exactMatch UMLS:C5231441 semapv:UnspecifiedMatching MONDO:0032849 neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies skos:exactMatch DOID:0070539 Halperin-Birk syndrome semapv:UnspecifiedMatching MONDO:0032849 neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies skos:exactMatch MEDGEN:1684884 semapv:UnspecifiedMatching MONDO:0032849 neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies skos:exactMatch OMIM:618651 halperin-birk syndrome semapv:UnspecifiedMatching MONDO:0032849 neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies skos:exactMatch UMLS:C5231442 semapv:UnspecifiedMatching MONDO:0032850 neurooculocardiogenitourinary syndrome skos:exactMatch DOID:0111675 neurooculocardiogenitourinary syndrome semapv:UnspecifiedMatching MONDO:0032850 neurooculocardiogenitourinary syndrome skos:exactMatch MEDGEN:1684841 semapv:UnspecifiedMatching MONDO:0032850 neurooculocardiogenitourinary syndrome skos:exactMatch OMIM:618652 neurooculocardiogenitourinary syndrome semapv:UnspecifiedMatching MONDO:0032850 neurooculocardiogenitourinary syndrome skos:exactMatch Orphanet:684305 Neurooculocardiogenitourinary syndrome semapv:UnspecifiedMatching MONDO:0032850 neurooculocardiogenitourinary syndrome skos:exactMatch UMLS:C5231443 semapv:UnspecifiedMatching MONDO:0032851 intellectual developmental disorder with impaired language and dysmorphic facies skos:exactMatch MEDGEN:1684804 semapv:UnspecifiedMatching MONDO:0032851 intellectual developmental disorder with impaired language and dysmorphic facies skos:exactMatch OMIM:618653 intellectual developmental disorder with impaired language and dysmorphic facies semapv:UnspecifiedMatching MONDO:0032851 intellectual developmental disorder with impaired language and dysmorphic facies skos:exactMatch UMLS:C5231444 semapv:UnspecifiedMatching MONDO:0032852 myopathy, congenital, with structured cores and z-line abnormalities skos:exactMatch DOID:0081342 congenital myopathy 8 semapv:UnspecifiedMatching MONDO:0032852 myopathy, congenital, with structured cores and z-line abnormalities skos:exactMatch MEDGEN:1684705 semapv:UnspecifiedMatching MONDO:0032852 myopathy, congenital, with structured cores and z-line abnormalities skos:exactMatch OMIM:618654 congenital myopathy 8 semapv:UnspecifiedMatching MONDO:0032852 myopathy, congenital, with structured cores and z-line abnormalities skos:exactMatch UMLS:C5231445 semapv:UnspecifiedMatching MONDO:0032853 myopathy, distal, 6, adult-onset, autosomal dominant skos:exactMatch MEDGEN:1684760 semapv:UnspecifiedMatching MONDO:0032853 myopathy, distal, 6, adult-onset, autosomal dominant skos:exactMatch OMIM:618655 myopathy, distal, 6, adult-onset, autosomal dominant semapv:UnspecifiedMatching MONDO:0032853 myopathy, distal, 6, adult-onset, autosomal dominant skos:exactMatch UMLS:C5203349 semapv:UnspecifiedMatching MONDO:0032854 Zimmermann-Laband syndrome 3 skos:exactMatch MEDGEN:1684740 semapv:UnspecifiedMatching MONDO:0032854 Zimmermann-Laband syndrome 3 skos:exactMatch OMIM:618658 zimmermann-laband syndrome 3 semapv:UnspecifiedMatching MONDO:0032854 Zimmermann-Laband syndrome 3 skos:exactMatch UMLS:C5231447 semapv:UnspecifiedMatching MONDO:0032855 neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies skos:exactMatch MEDGEN:1684792 semapv:UnspecifiedMatching MONDO:0032855 neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies skos:exactMatch OMIM:618659 neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies semapv:UnspecifiedMatching MONDO:0032855 neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies skos:exactMatch UMLS:C5231448 semapv:UnspecifiedMatching MONDO:0032857 diarrhea 11, malabsorptive, congenital skos:exactMatch MEDGEN:1684754 semapv:UnspecifiedMatching MONDO:0032857 diarrhea 11, malabsorptive, congenital skos:exactMatch OMIM:618662 diarrhea 11, malabsorptive, congenital semapv:UnspecifiedMatching MONDO:0032857 diarrhea 11, malabsorptive, congenital skos:exactMatch UMLS:C5231449 semapv:UnspecifiedMatching MONDO:0032858 developmental and epileptic encephalopathy, 81 skos:exactMatch DOID:0112217 developmental and epileptic encephalopathy 81 semapv:UnspecifiedMatching MONDO:0032858 developmental and epileptic encephalopathy, 81 skos:exactMatch MEDGEN:1684681 semapv:UnspecifiedMatching MONDO:0032858 developmental and epileptic encephalopathy, 81 skos:exactMatch OMIM:618663 developmental and epileptic encephalopathy 81 semapv:UnspecifiedMatching MONDO:0032858 developmental and epileptic encephalopathy, 81 skos:exactMatch UMLS:C5231450 semapv:UnspecifiedMatching MONDO:0032859 spermatogenic failure 40 skos:exactMatch DOID:0111918 spermatogenic failure 40 semapv:UnspecifiedMatching MONDO:0032859 spermatogenic failure 40 skos:exactMatch MEDGEN:1684662 semapv:UnspecifiedMatching MONDO:0032859 spermatogenic failure 40 skos:exactMatch OMIM:618664 spermatogenic failure 40 semapv:UnspecifiedMatching MONDO:0032859 spermatogenic failure 40 skos:exactMatch UMLS:C5231451 semapv:UnspecifiedMatching MONDO:0032860 intellectual developmental disorder, autosomal recessive 72 skos:exactMatch DOID:0080765 autosomal recessive intellectual developmental disorder 72 semapv:UnspecifiedMatching MONDO:0032860 intellectual developmental disorder, autosomal recessive 72 skos:exactMatch MEDGEN:1684805 semapv:UnspecifiedMatching MONDO:0032860 intellectual developmental disorder, autosomal recessive 72 skos:exactMatch OMIM:618665 intellectual developmental disorder, autosomal recessive 72 semapv:UnspecifiedMatching MONDO:0032860 intellectual developmental disorder, autosomal recessive 72 skos:exactMatch UMLS:C5231452 semapv:UnspecifiedMatching MONDO:0032862 hydrocephalus, congenital communicating, 1 skos:exactMatch MEDGEN:1684770 semapv:UnspecifiedMatching MONDO:0032862 hydrocephalus, congenital communicating, 1 skos:exactMatch OMIM:618667 hydrocephalus, congenital, 4 semapv:UnspecifiedMatching MONDO:0032862 hydrocephalus, congenital communicating, 1 skos:exactMatch UMLS:C5231454 semapv:UnspecifiedMatching MONDO:0032863 spermatogenic failure 41 skos:exactMatch DOID:0111912 spermatogenic failure 41 semapv:UnspecifiedMatching MONDO:0032863 spermatogenic failure 41 skos:exactMatch MEDGEN:1684739 semapv:UnspecifiedMatching MONDO:0032863 spermatogenic failure 41 skos:exactMatch OMIM:618670 spermatogenic failure 41 semapv:UnspecifiedMatching MONDO:0032863 spermatogenic failure 41 skos:exactMatch UMLS:C5231455 semapv:UnspecifiedMatching MONDO:0032864 intellectual developmental disorder with speech delay, autism, and dysmorphic facies skos:exactMatch MEDGEN:1684848 semapv:UnspecifiedMatching MONDO:0032864 intellectual developmental disorder with speech delay, autism, and dysmorphic facies skos:exactMatch OMIM:618672 intellectual developmental disorder with speech delay, autism, and dysmorphic facies semapv:UnspecifiedMatching MONDO:0032864 intellectual developmental disorder with speech delay, autism, and dysmorphic facies skos:exactMatch UMLS:C5231456 semapv:UnspecifiedMatching MONDO:0032865 pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 skos:exactMatch MEDGEN:1684878 semapv:UnspecifiedMatching MONDO:0032865 pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 skos:exactMatch OMIM:618674 pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 5 semapv:UnspecifiedMatching MONDO:0032865 pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 skos:exactMatch UMLS:C5231457 semapv:UnspecifiedMatching MONDO:0032866 cortical dysplasia, complex, with other brain malformations 10 skos:exactMatch DOID:0061143 complex cortical dysplasia with other brain malformations 10 semapv:UnspecifiedMatching MONDO:0032866 cortical dysplasia, complex, with other brain malformations 10 skos:exactMatch MEDGEN:1684859 semapv:UnspecifiedMatching MONDO:0032866 cortical dysplasia, complex, with other brain malformations 10 skos:exactMatch OMIM:618677 cortical dysplasia, complex, with other brain malformations 10 semapv:UnspecifiedMatching MONDO:0032866 cortical dysplasia, complex, with other brain malformations 10 skos:exactMatch UMLS:C5231458 semapv:UnspecifiedMatching MONDO:0032867 pancreatic cancer, susceptibility to, 5 skos:exactMatch MEDGEN:1684838 semapv:UnspecifiedMatching MONDO:0032867 pancreatic cancer, susceptibility to, 5 skos:exactMatch OMIM:618680 pancreatic cancer, susceptibility to, 5 semapv:UnspecifiedMatching MONDO:0032867 pancreatic cancer, susceptibility to, 5 skos:exactMatch UMLS:C5231459 semapv:UnspecifiedMatching MONDO:0032868 lessel-kubisch syndrome skos:exactMatch MEDGEN:1684750 semapv:UnspecifiedMatching MONDO:0032868 lessel-kubisch syndrome skos:exactMatch OMIM:618681 lessel-kubisch syndrome semapv:UnspecifiedMatching MONDO:0032868 lessel-kubisch syndrome skos:exactMatch UMLS:C5231460 semapv:UnspecifiedMatching MONDO:0032869 mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6 skos:exactMatch DOID:0111749 mitochondrial complex V (ATP synthase) deficiency nuclear type 6 semapv:UnspecifiedMatching MONDO:0032869 mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6 skos:exactMatch MEDGEN:1684729 semapv:UnspecifiedMatching MONDO:0032869 mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6 skos:exactMatch OMIM:618683 mitochondrial complex 5 (atp synthase) deficiency, nuclear type 6 semapv:UnspecifiedMatching MONDO:0032869 mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6 skos:exactMatch UMLS:C5231461 semapv:UnspecifiedMatching MONDO:0032870 intellectual developmental disorder with short stature and behavioral abnormalities skos:exactMatch DOID:0111674 intellectual developmental disorder with short stature and behavioral abnormalities semapv:UnspecifiedMatching MONDO:0032870 intellectual developmental disorder with short stature and behavioral abnormalities skos:exactMatch MEDGEN:1684812 semapv:UnspecifiedMatching MONDO:0032870 intellectual developmental disorder with short stature and behavioral abnormalities skos:exactMatch OMIM:618687 intellectual developmental disorder with short stature and behavioral abnormalities semapv:UnspecifiedMatching MONDO:0032870 intellectual developmental disorder with short stature and behavioral abnormalities skos:exactMatch UMLS:C5231462 semapv:UnspecifiedMatching MONDO:0032871 leukodystrophy, hypomyelinating, 19, transient infantile skos:exactMatch DOID:0070400 hypomyelinating leukodystrophy 19 semapv:UnspecifiedMatching MONDO:0032871 leukodystrophy, hypomyelinating, 19, transient infantile skos:exactMatch MEDGEN:1684698 semapv:UnspecifiedMatching MONDO:0032871 leukodystrophy, hypomyelinating, 19, transient infantile skos:exactMatch OMIM:618688 leukodystrophy, hypomyelinating, 19, transient infantile semapv:UnspecifiedMatching MONDO:0032871 leukodystrophy, hypomyelinating, 19, transient infantile skos:exactMatch UMLS:C5231463 semapv:UnspecifiedMatching MONDO:0032872 ciliary dyskinesia, primary, 42 skos:exactMatch DOID:0111855 primary ciliary dyskinesia 42 semapv:UnspecifiedMatching MONDO:0032872 ciliary dyskinesia, primary, 42 skos:exactMatch MEDGEN:1684665 semapv:UnspecifiedMatching MONDO:0032872 ciliary dyskinesia, primary, 42 skos:exactMatch OMIM:618695 ciliary dyskinesia, primary, 42 semapv:UnspecifiedMatching MONDO:0032872 ciliary dyskinesia, primary, 42 skos:exactMatch UMLS:C5231464 semapv:UnspecifiedMatching MONDO:0032873 retinitis pigmentosa 87 with choroidal involvement skos:exactMatch MEDGEN:1684667 semapv:UnspecifiedMatching MONDO:0032873 retinitis pigmentosa 87 with choroidal involvement skos:exactMatch OMIM:618697 retinitis pigmentosa 87 with choroidal involvement semapv:UnspecifiedMatching MONDO:0032873 retinitis pigmentosa 87 with choroidal involvement skos:exactMatch UMLS:C5231465 semapv:UnspecifiedMatching MONDO:0032874 ciliary dyskinesia, primary, 43 skos:exactMatch DOID:0111856 primary ciliary dyskinesia 43 semapv:UnspecifiedMatching MONDO:0032874 ciliary dyskinesia, primary, 43 skos:exactMatch MEDGEN:1684675 semapv:UnspecifiedMatching MONDO:0032874 ciliary dyskinesia, primary, 43 skos:exactMatch OMIM:618699 ciliary dyskinesia, primary, 43 semapv:UnspecifiedMatching MONDO:0032874 ciliary dyskinesia, primary, 43 skos:exactMatch UMLS:C5231466 semapv:UnspecifiedMatching MONDO:0032875 short stature and microcephaly with genital anomalies skos:exactMatch MEDGEN:1684791 semapv:UnspecifiedMatching MONDO:0032875 short stature and microcephaly with genital anomalies skos:exactMatch OMIM:618702 short stature and microcephaly with genital anomalies semapv:UnspecifiedMatching MONDO:0032875 short stature and microcephaly with genital anomalies skos:exactMatch UMLS:C5231467 semapv:UnspecifiedMatching MONDO:0032876 neurodevelopmental disorder with absent language and variable seizures skos:exactMatch MEDGEN:1684803 semapv:UnspecifiedMatching MONDO:0032876 neurodevelopmental disorder with absent language and variable seizures skos:exactMatch OMIM:618707 neurodevelopmental disorder with absent language and variable seizures semapv:UnspecifiedMatching MONDO:0032876 neurodevelopmental disorder with absent language and variable seizures skos:exactMatch UMLS:C5231469 semapv:UnspecifiedMatching MONDO:0032877 neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures skos:exactMatch MEDGEN:1684757 semapv:UnspecifiedMatching MONDO:0032877 neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures skos:exactMatch OMIM:618709 neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures semapv:UnspecifiedMatching MONDO:0032877 neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures skos:exactMatch UMLS:C5231470 semapv:UnspecifiedMatching MONDO:0032878 neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia skos:exactMatch MEDGEN:1684663 semapv:UnspecifiedMatching MONDO:0032878 neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia skos:exactMatch OMIM:618718 neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia semapv:UnspecifiedMatching MONDO:0032878 neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia skos:exactMatch UMLS:C5231471 semapv:UnspecifiedMatching MONDO:0032879 megabladder, congenital skos:exactMatch DOID:0112014 congenital megabladder semapv:UnspecifiedMatching MONDO:0032879 megabladder, congenital skos:exactMatch MEDGEN:1684806 semapv:UnspecifiedMatching MONDO:0032879 megabladder, congenital skos:exactMatch OMIM:618719 megabladder, congenital semapv:UnspecifiedMatching MONDO:0032879 megabladder, congenital skos:exactMatch UMLS:C5231472 semapv:UnspecifiedMatching MONDO:0032880 developmental and epileptic encephalopathy, 82 skos:exactMatch DOID:0080715 developmental and epileptic encephalopathy 82 semapv:UnspecifiedMatching MONDO:0032880 developmental and epileptic encephalopathy, 82 skos:exactMatch MEDGEN:1684694 semapv:UnspecifiedMatching MONDO:0032880 developmental and epileptic encephalopathy, 82 skos:exactMatch OMIM:618721 developmental and epileptic encephalopathy 82 semapv:UnspecifiedMatching MONDO:0032880 developmental and epileptic encephalopathy, 82 skos:exactMatch UMLS:C5231473 semapv:UnspecifiedMatching MONDO:0032881 premature ovarian failure 16 skos:exactMatch DOID:0080873 primary ovarian insufficiency 16 semapv:UnspecifiedMatching MONDO:0032881 premature ovarian failure 16 skos:exactMatch MEDGEN:1684679 semapv:UnspecifiedMatching MONDO:0032881 premature ovarian failure 16 skos:exactMatch OMIM:618723 premature ovarian failure 16 semapv:UnspecifiedMatching MONDO:0032881 premature ovarian failure 16 skos:exactMatch UMLS:C5231474 semapv:UnspecifiedMatching MONDO:0032882 Heyn-Sproul-Jackson syndrome skos:exactMatch MEDGEN:1684743 semapv:UnspecifiedMatching MONDO:0032882 Heyn-Sproul-Jackson syndrome skos:exactMatch OMIM:618724 heyn-sproul-jackson syndrome semapv:UnspecifiedMatching MONDO:0032882 Heyn-Sproul-Jackson syndrome skos:exactMatch Orphanet:658595 DNMT3A-related microcephalic dwarfism semapv:UnspecifiedMatching MONDO:0032882 Heyn-Sproul-Jackson syndrome skos:exactMatch UMLS:C5231475 semapv:UnspecifiedMatching MONDO:0032883 intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures skos:exactMatch MEDGEN:1684850 semapv:UnspecifiedMatching MONDO:0032883 intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures skos:exactMatch OMIM:618725 intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures semapv:UnspecifiedMatching MONDO:0032883 intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures skos:exactMatch UMLS:C5231476 semapv:UnspecifiedMatching MONDO:0032884 ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies skos:exactMatch MEDGEN:1684719 semapv:UnspecifiedMatching MONDO:0032884 ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies skos:exactMatch OMIM:618727 ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies semapv:UnspecifiedMatching MONDO:0032884 ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies skos:exactMatch UMLS:C5231477 semapv:UnspecifiedMatching MONDO:0032885 spondyloepimetaphyseal dysplasia, Isidor-Toutain type skos:exactMatch MEDGEN:1684771 semapv:UnspecifiedMatching MONDO:0032885 spondyloepimetaphyseal dysplasia, Isidor-Toutain type skos:exactMatch OMIM:618728 spondyloepimetaphyseal dysplasia, isidor-toutain type semapv:UnspecifiedMatching MONDO:0032885 spondyloepimetaphyseal dysplasia, Isidor-Toutain type skos:exactMatch UMLS:C5231478 semapv:UnspecifiedMatching MONDO:0032886 Liang-Wang syndrome skos:exactMatch MEDGEN:1684847 semapv:UnspecifiedMatching MONDO:0032886 Liang-Wang syndrome skos:exactMatch OMIM:618729 liang-wang syndrome semapv:UnspecifiedMatching MONDO:0032886 Liang-Wang syndrome skos:exactMatch Orphanet:664438 Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0032886 Liang-Wang syndrome skos:exactMatch UMLS:C5231479 semapv:UnspecifiedMatching MONDO:0032887 neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity skos:exactMatch MEDGEN:1684695 semapv:UnspecifiedMatching MONDO:0032887 neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity skos:exactMatch OMIM:618730 neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity semapv:UnspecifiedMatching MONDO:0032887 neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity skos:exactMatch UMLS:C5231480 semapv:UnspecifiedMatching MONDO:0032888 neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies skos:exactMatch MEDGEN:1684772 semapv:UnspecifiedMatching MONDO:0032888 neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies skos:exactMatch OMIM:618731 neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies semapv:UnspecifiedMatching MONDO:0032888 neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies skos:exactMatch UMLS:C5231481 semapv:UnspecifiedMatching MONDO:0032889 Poirier-Bienvenu neurodevelopmental syndrome skos:exactMatch MEDGEN:1684718 semapv:UnspecifiedMatching MONDO:0032889 Poirier-Bienvenu neurodevelopmental syndrome skos:exactMatch OMIM:618732 poirier-bienvenu neurodevelopmental syndrome semapv:UnspecifiedMatching MONDO:0032889 Poirier-Bienvenu neurodevelopmental syndrome skos:exactMatch Orphanet:689397 Poirier-Bienvenu neurodevelopmental syndrome semapv:UnspecifiedMatching MONDO:0032889 Poirier-Bienvenu neurodevelopmental syndrome skos:exactMatch UMLS:C5231482 semapv:UnspecifiedMatching MONDO:0032890 neuromuscular disease and ocular or auditory anomalies with or without seizures skos:exactMatch MEDGEN:1684689 semapv:UnspecifiedMatching MONDO:0032890 neuromuscular disease and ocular or auditory anomalies with or without seizures skos:exactMatch OMIM:618733 neuromuscular oculoauditory syndrome semapv:UnspecifiedMatching MONDO:0032890 neuromuscular disease and ocular or auditory anomalies with or without seizures skos:exactMatch UMLS:C5231483 semapv:UnspecifiedMatching MONDO:0032891 aneurysm, intracranial berry, 12 skos:exactMatch DOID:0080975 intracranial berry aneurysm 12 semapv:UnspecifiedMatching MONDO:0032891 aneurysm, intracranial berry, 12 skos:exactMatch MEDGEN:1684660 semapv:UnspecifiedMatching MONDO:0032891 aneurysm, intracranial berry, 12 skos:exactMatch OMIM:618734 aneurysm, intracranial berry, 12 semapv:UnspecifiedMatching MONDO:0032891 aneurysm, intracranial berry, 12 skos:exactMatch UMLS:C5231484 semapv:UnspecifiedMatching MONDO:0032892 structural brain anomalies with impaired intellectual development and craniosynostosis skos:exactMatch MEDGEN:1684861 semapv:UnspecifiedMatching MONDO:0032892 structural brain anomalies with impaired intellectual development and craniosynostosis skos:exactMatch OMIM:618736 structural brain anomalies with impaired intellectual development and craniosynostosis semapv:UnspecifiedMatching MONDO:0032892 structural brain anomalies with impaired intellectual development and craniosynostosis skos:exactMatch UMLS:C5231485 semapv:UnspecifiedMatching MONDO:0032893 pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures skos:exactMatch DOID:0081266 pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures semapv:UnspecifiedMatching MONDO:0032893 pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures skos:exactMatch MEDGEN:1684879 semapv:UnspecifiedMatching MONDO:0032893 pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures skos:exactMatch OMIM:618737 cortical dysplasia, complex, with other brain malformations 15 semapv:UnspecifiedMatching MONDO:0032893 pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures skos:exactMatch UMLS:C5231486 semapv:UnspecifiedMatching MONDO:0032894 neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy skos:exactMatch MEDGEN:1717952 semapv:UnspecifiedMatching MONDO:0032894 neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy skos:exactMatch OMIM:618741 neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy semapv:UnspecifiedMatching MONDO:0032894 neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy skos:exactMatch UMLS:C5394027 semapv:UnspecifiedMatching MONDO:0032895 developmental and epileptic encephalopathy, 83 skos:exactMatch DOID:0112218 developmental and epileptic encephalopathy 83 semapv:UnspecifiedMatching MONDO:0032895 developmental and epileptic encephalopathy, 83 skos:exactMatch MEDGEN:1684784 semapv:UnspecifiedMatching MONDO:0032895 developmental and epileptic encephalopathy, 83 skos:exactMatch OMIM:618744 developmental and epileptic encephalopathy 83 semapv:UnspecifiedMatching MONDO:0032895 developmental and epileptic encephalopathy, 83 skos:exactMatch UMLS:C5231487 semapv:UnspecifiedMatching MONDO:0032896 spermatogenic failure 42 skos:exactMatch DOID:0111923 spermatogenic failure 42 semapv:UnspecifiedMatching MONDO:0032896 spermatogenic failure 42 skos:exactMatch MEDGEN:1684744 semapv:UnspecifiedMatching MONDO:0032896 spermatogenic failure 42 skos:exactMatch OMIM:618745 spermatogenic failure 42 semapv:UnspecifiedMatching MONDO:0032896 spermatogenic failure 42 skos:exactMatch UMLS:C5231488 semapv:UnspecifiedMatching MONDO:0032897 intellectual developmental disorder with hypotonia and behavioral abnormalities skos:exactMatch MEDGEN:1684709 semapv:UnspecifiedMatching MONDO:0032897 intellectual developmental disorder with hypotonia and behavioral abnormalities skos:exactMatch OMIM:618748 intellectual developmental disorder with hypotonia and behavioral abnormalities semapv:UnspecifiedMatching MONDO:0032897 intellectual developmental disorder with hypotonia and behavioral abnormalities skos:exactMatch UMLS:C5231489 semapv:UnspecifiedMatching MONDO:0032898 spermatogenic failure 43 skos:exactMatch DOID:0111917 spermatogenic failure 43 semapv:UnspecifiedMatching MONDO:0032898 spermatogenic failure 43 skos:exactMatch MEDGEN:1684830 semapv:UnspecifiedMatching MONDO:0032898 spermatogenic failure 43 skos:exactMatch OMIM:618751 spermatogenic failure 43 semapv:UnspecifiedMatching MONDO:0032898 spermatogenic failure 43 skos:exactMatch UMLS:C5231490 semapv:UnspecifiedMatching MONDO:0032899 neutropenia, severe congenital, 8, autosomal dominant skos:exactMatch DOID:0112135 severe congenital neutropenia 8 semapv:UnspecifiedMatching MONDO:0032899 neutropenia, severe congenital, 8, autosomal dominant skos:exactMatch MEDGEN:1684816 semapv:UnspecifiedMatching MONDO:0032899 neutropenia, severe congenital, 8, autosomal dominant skos:exactMatch OMIM:618752 neutropenia, severe congenital, 8, autosomal dominant semapv:UnspecifiedMatching MONDO:0032899 neutropenia, severe congenital, 8, autosomal dominant skos:exactMatch Orphanet:675767 Severe congenital neutropenia-developmental delay syndrome due to SRP54 deficiency semapv:UnspecifiedMatching MONDO:0032899 neutropenia, severe congenital, 8, autosomal dominant skos:exactMatch UMLS:C5203411 semapv:UnspecifiedMatching MONDO:0032900 neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements skos:exactMatch MEDGEN:1684874 semapv:UnspecifiedMatching MONDO:0032900 neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements skos:exactMatch OMIM:618760 neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements semapv:UnspecifiedMatching MONDO:0032900 neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements skos:exactMatch UMLS:C5231491 semapv:UnspecifiedMatching MONDO:0032901 Catifa syndrome skos:exactMatch MEDGEN:1684686 semapv:UnspecifiedMatching MONDO:0032901 Catifa syndrome skos:exactMatch OMIM:618761 CATIFA syndrome semapv:UnspecifiedMatching MONDO:0032901 Catifa syndrome skos:exactMatch UMLS:C5231492 semapv:UnspecifiedMatching MONDO:0032902 Joubert syndrome 36 skos:exactMatch MEDGEN:1684786 semapv:UnspecifiedMatching MONDO:0032902 Joubert syndrome 36 skos:exactMatch OMIM:618763 joubert syndrome 36 semapv:UnspecifiedMatching MONDO:0032902 Joubert syndrome 36 skos:exactMatch UMLS:C5231493 semapv:UnspecifiedMatching MONDO:0032903 arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum skos:exactMatch DOID:0080980 arthrogryposis multiplex congenita-4 semapv:UnspecifiedMatching MONDO:0032903 arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum skos:exactMatch MEDGEN:1684706 semapv:UnspecifiedMatching MONDO:0032903 arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum skos:exactMatch OMIM:618766 arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum semapv:UnspecifiedMatching MONDO:0032903 arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum skos:exactMatch UMLS:C5231494 semapv:UnspecifiedMatching MONDO:0032904 corneal dystrophy, Meesmann, 2 skos:exactMatch DOID:0080671 Meesmann corneal dystrophy 2 semapv:UnspecifiedMatching MONDO:0032904 corneal dystrophy, Meesmann, 2 skos:exactMatch MEDGEN:1684798 semapv:UnspecifiedMatching MONDO:0032904 corneal dystrophy, Meesmann, 2 skos:exactMatch OMIM:618767 corneal dystrophy, meesmann, 2 semapv:UnspecifiedMatching MONDO:0032904 corneal dystrophy, Meesmann, 2 skos:exactMatch UMLS:C5231495 semapv:UnspecifiedMatching MONDO:0032905 spastic paraplegia 81, autosomal recessive skos:exactMatch MEDGEN:1711668 semapv:UnspecifiedMatching MONDO:0032905 spastic paraplegia 81, autosomal recessive skos:exactMatch OMIM:618768 spastic paraplegia 81, autosomal recessive semapv:UnspecifiedMatching MONDO:0032905 spastic paraplegia 81, autosomal recessive skos:exactMatch UMLS:C5394033 semapv:UnspecifiedMatching MONDO:0032906 spastic paraplegia 82, autosomal recessive skos:exactMatch DOID:0112343 hereditary spastic paraplegia 82 semapv:UnspecifiedMatching MONDO:0032906 spastic paraplegia 82, autosomal recessive skos:exactMatch MEDGEN:1710411 semapv:UnspecifiedMatching MONDO:0032906 spastic paraplegia 82, autosomal recessive skos:exactMatch OMIM:618770 spastic paraplegia 82, autosomal recessive semapv:UnspecifiedMatching MONDO:0032906 spastic paraplegia 82, autosomal recessive skos:exactMatch Orphanet:631073 Autosomal recessive spastic paraplegia type 82 semapv:UnspecifiedMatching MONDO:0032906 spastic paraplegia 82, autosomal recessive skos:exactMatch UMLS:C5394037 semapv:UnspecifiedMatching MONDO:0032907 lymphatic malformation 8 skos:exactMatch MEDGEN:1684767 semapv:UnspecifiedMatching MONDO:0032907 lymphatic malformation 8 skos:exactMatch OMIM:618773 lymphatic malformation 8 semapv:UnspecifiedMatching MONDO:0032907 lymphatic malformation 8 skos:exactMatch UMLS:C5231496 semapv:UnspecifiedMatching MONDO:0032908 CEBALID syndrome skos:exactMatch MEDGEN:1710973 semapv:UnspecifiedMatching MONDO:0032908 CEBALID syndrome skos:exactMatch OMIM:618774 CEBALID syndrome semapv:UnspecifiedMatching MONDO:0032908 CEBALID syndrome skos:exactMatch Orphanet:693549 Facial dysmorphism-Intellectual disability-rhombencephalosynapsis syndrome semapv:UnspecifiedMatching MONDO:0032908 CEBALID syndrome skos:exactMatch UMLS:C5394044 semapv:UnspecifiedMatching MONDO:0032909 mitochondrial complex III deficiency, nuclear type 10 skos:exactMatch MEDGEN:1719382 semapv:UnspecifiedMatching MONDO:0032909 mitochondrial complex III deficiency, nuclear type 10 skos:exactMatch OMIM:618775 mitochondrial complex 3 deficiency, nuclear type 10 semapv:UnspecifiedMatching MONDO:0032909 mitochondrial complex III deficiency, nuclear type 10 skos:exactMatch UMLS:C5394051 semapv:UnspecifiedMatching MONDO:0032910 mitochondrial complex I deficiency, nuclear type 34 skos:exactMatch DOID:0112091 nuclear type mitochondrial complex I deficiency 34 semapv:UnspecifiedMatching MONDO:0032910 mitochondrial complex I deficiency, nuclear type 34 skos:exactMatch MEDGEN:1720533 semapv:UnspecifiedMatching MONDO:0032910 mitochondrial complex I deficiency, nuclear type 34 skos:exactMatch OMIM:618776 mitochondrial complex 1 deficiency, nuclear type 34 semapv:UnspecifiedMatching MONDO:0032910 mitochondrial complex I deficiency, nuclear type 34 skos:exactMatch UMLS:C5394053 semapv:UnspecifiedMatching MONDO:0032911 hearing loss, autosomal dominant 75 skos:exactMatch DOID:0112166 autosomal dominant nonsyndromic deafness 75 semapv:UnspecifiedMatching MONDO:0032911 hearing loss, autosomal dominant 75 skos:exactMatch MEDGEN:1713569 semapv:UnspecifiedMatching MONDO:0032911 hearing loss, autosomal dominant 75 skos:exactMatch OMIM:618778 deafness, autosomal dominant 75 semapv:UnspecifiedMatching MONDO:0032911 hearing loss, autosomal dominant 75 skos:exactMatch UMLS:C5394059 semapv:UnspecifiedMatching MONDO:0032912 Coffin-Siris syndrome 11 skos:exactMatch DOID:0112372 Coffin-Siris syndrome 11 semapv:UnspecifiedMatching MONDO:0032912 Coffin-Siris syndrome 11 skos:exactMatch MEDGEN:1717402 semapv:UnspecifiedMatching MONDO:0032912 Coffin-Siris syndrome 11 skos:exactMatch OMIM:618779 coffin-siris syndrome 11 semapv:UnspecifiedMatching MONDO:0032912 Coffin-Siris syndrome 11 skos:exactMatch UMLS:C5241442 semapv:UnspecifiedMatching MONDO:0032913 congenital heart defects, multiple types, 7 skos:exactMatch MEDGEN:1714491 semapv:UnspecifiedMatching MONDO:0032913 congenital heart defects, multiple types, 7 skos:exactMatch OMIM:618780 congenital heart defects, multiple types, 7 semapv:UnspecifiedMatching MONDO:0032913 congenital heart defects, multiple types, 7 skos:exactMatch UMLS:C5394062 semapv:UnspecifiedMatching MONDO:0032914 ciliary dyskinesia, primary, 44 skos:exactMatch DOID:0111851 primary ciliary dyskinesia 44 semapv:UnspecifiedMatching MONDO:0032914 ciliary dyskinesia, primary, 44 skos:exactMatch MEDGEN:1716408 semapv:UnspecifiedMatching MONDO:0032914 ciliary dyskinesia, primary, 44 skos:exactMatch OMIM:618781 ciliary dyskinesia, primary, 44 semapv:UnspecifiedMatching MONDO:0032914 ciliary dyskinesia, primary, 44 skos:exactMatch UMLS:C5394063 semapv:UnspecifiedMatching MONDO:0032915 long QT syndrome 16 skos:exactMatch DOID:0070533 long QT syndrome 16 semapv:UnspecifiedMatching MONDO:0032915 long QT syndrome 16 skos:exactMatch MEDGEN:1713991 semapv:UnspecifiedMatching MONDO:0032915 long QT syndrome 16 skos:exactMatch OMIM:618782 long qt syndrome 16 semapv:UnspecifiedMatching MONDO:0032915 long QT syndrome 16 skos:exactMatch UMLS:C5394068 semapv:UnspecifiedMatching MONDO:0032916 Imagawa-Matsumoto syndrome skos:exactMatch MEDGEN:1711007 semapv:UnspecifiedMatching MONDO:0032916 Imagawa-Matsumoto syndrome skos:exactMatch OMIM:618786 imagawa-matsumoto syndrome semapv:UnspecifiedMatching MONDO:0032916 Imagawa-Matsumoto syndrome skos:exactMatch Orphanet:659463 Imagawa-Matsumoto syndrome semapv:UnspecifiedMatching MONDO:0032916 Imagawa-Matsumoto syndrome skos:exactMatch UMLS:C5394073 semapv:UnspecifiedMatching MONDO:0032917 hearing loss, autosomal dominant 76 skos:exactMatch DOID:0112167 autosomal dominant nonsyndromic deafness 76 semapv:UnspecifiedMatching MONDO:0032917 hearing loss, autosomal dominant 76 skos:exactMatch MEDGEN:1710038 semapv:UnspecifiedMatching MONDO:0032917 hearing loss, autosomal dominant 76 skos:exactMatch OMIM:618787 deafness, autosomal dominant 76 semapv:UnspecifiedMatching MONDO:0032917 hearing loss, autosomal dominant 76 skos:exactMatch UMLS:C5394080 semapv:UnspecifiedMatching MONDO:0032918 developmental and epileptic encephalopathy, 84 skos:exactMatch DOID:0112219 developmental and epileptic encephalopathy 84 semapv:UnspecifiedMatching MONDO:0032918 developmental and epileptic encephalopathy, 84 skos:exactMatch MEDGEN:1720141 semapv:UnspecifiedMatching MONDO:0032918 developmental and epileptic encephalopathy, 84 skos:exactMatch OMIM:618792 developmental and epileptic encephalopathy 84 semapv:UnspecifiedMatching MONDO:0032918 developmental and epileptic encephalopathy, 84 skos:exactMatch UMLS:C5394081 semapv:UnspecifiedMatching MONDO:0032919 intellectual developmental disorder 62 skos:exactMatch DOID:0061035 autosomal dominant intellectual developmental disorder 62 semapv:UnspecifiedMatching MONDO:0032919 intellectual developmental disorder 62 skos:exactMatch ICD10CM:QA0.0142 semapv:UnspecifiedMatching MONDO:0032919 intellectual developmental disorder 62 skos:exactMatch MEDGEN:1712636 semapv:UnspecifiedMatching MONDO:0032919 intellectual developmental disorder 62 skos:exactMatch OMIM:618793 intellectual developmental disorder, autosomal dominant 62 semapv:UnspecifiedMatching MONDO:0032919 intellectual developmental disorder 62 skos:exactMatch UMLS:C5394083 semapv:UnspecifiedMatching MONDO:0032920 juvenile arthritis due to defect in LACC1 skos:exactMatch OMIM:618795 juvenile arthritis semapv:UnspecifiedMatching MONDO:0032921 neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation skos:exactMatch MEDGEN:1716098 semapv:UnspecifiedMatching MONDO:0032921 neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation skos:exactMatch OMIM:618797 neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation semapv:UnspecifiedMatching MONDO:0032921 neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation skos:exactMatch UMLS:C5394091 semapv:UnspecifiedMatching MONDO:0032922 Beck-Fahrner syndrome skos:exactMatch MEDGEN:1711894 semapv:UnspecifiedMatching MONDO:0032922 Beck-Fahrner syndrome skos:exactMatch OMIM:618798 beck-fahrner syndrome semapv:UnspecifiedMatching MONDO:0032922 Beck-Fahrner syndrome skos:exactMatch Orphanet:684216 Intellectual disability-facial dysmorphism-joint hypermobility-hearing loss syndrome semapv:UnspecifiedMatching MONDO:0032922 Beck-Fahrner syndrome skos:exactMatch UMLS:C5394097 semapv:UnspecifiedMatching MONDO:0032923 spinocerebellar ataxia, autosomal recessive 28 skos:exactMatch DOID:0070409 autosomal recessive spinocerebellar ataxia 28 semapv:UnspecifiedMatching MONDO:0032923 spinocerebellar ataxia, autosomal recessive 28 skos:exactMatch MEDGEN:1712568 semapv:UnspecifiedMatching MONDO:0032923 spinocerebellar ataxia, autosomal recessive 28 skos:exactMatch OMIM:618800 spinocerebellar ataxia, autosomal recessive 28 semapv:UnspecifiedMatching MONDO:0032923 spinocerebellar ataxia, autosomal recessive 28 skos:exactMatch UMLS:C5394101 semapv:UnspecifiedMatching MONDO:0032924 ciliary dyskinesia, primary, 45 skos:exactMatch DOID:0111857 primary ciliary dyskinesia 45 semapv:UnspecifiedMatching MONDO:0032924 ciliary dyskinesia, primary, 45 skos:exactMatch MEDGEN:1714988 semapv:UnspecifiedMatching MONDO:0032924 ciliary dyskinesia, primary, 45 skos:exactMatch OMIM:618801 ciliary dyskinesia, primary, 45 semapv:UnspecifiedMatching MONDO:0032924 ciliary dyskinesia, primary, 45 skos:exactMatch UMLS:C5394104 semapv:UnspecifiedMatching MONDO:0032925 respiratory papillomatosis, juvenile recurrent, congenital skos:exactMatch MEDGEN:1719353 semapv:UnspecifiedMatching MONDO:0032925 respiratory papillomatosis, juvenile recurrent, congenital skos:exactMatch OMIM:618803 respiratory papillomatosis, juvenile recurrent, congenital semapv:UnspecifiedMatching MONDO:0032925 respiratory papillomatosis, juvenile recurrent, congenital skos:exactMatch UMLS:C5394112 semapv:UnspecifiedMatching MONDO:0032926 sandestig-stefanova syndrome skos:exactMatch DOID:0081272 Sandestig-Stefanova syndrome semapv:UnspecifiedMatching MONDO:0032926 sandestig-stefanova syndrome skos:exactMatch MEDGEN:1718072 semapv:UnspecifiedMatching MONDO:0032926 sandestig-stefanova syndrome skos:exactMatch OMIM:618804 sandestig-stefanova syndrome semapv:UnspecifiedMatching MONDO:0032926 sandestig-stefanova syndrome skos:exactMatch UMLS:C5394118 semapv:UnspecifiedMatching MONDO:0032927 triokinase and FMN cyclase deficiency syndrome skos:exactMatch MEDGEN:1710207 semapv:UnspecifiedMatching MONDO:0032927 triokinase and FMN cyclase deficiency syndrome skos:exactMatch OMIM:618805 triokinase and fmn cyclase deficiency syndrome semapv:UnspecifiedMatching MONDO:0032927 triokinase and FMN cyclase deficiency syndrome skos:exactMatch UMLS:C5394125 semapv:UnspecifiedMatching MONDO:0032928 T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant skos:exactMatch MEDGEN:1712366 semapv:UnspecifiedMatching MONDO:0032928 T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant skos:exactMatch OMIM:618806 t-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant semapv:UnspecifiedMatching MONDO:0032928 T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant skos:exactMatch Orphanet:676039 Combined immunodeficiency due to FOXN1 haploinsufficiency semapv:UnspecifiedMatching MONDO:0032928 T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant skos:exactMatch UMLS:C5394133 semapv:UnspecifiedMatching MONDO:0032930 intellectual developmental disorder with poor growth and with or without seizures or ataxia skos:exactMatch MEDGEN:1711370 semapv:UnspecifiedMatching MONDO:0032930 intellectual developmental disorder with poor growth and with or without seizures or ataxia skos:exactMatch OMIM:618808 intellectual developmental disorder with poor growth and with or without seizures or ataxia semapv:UnspecifiedMatching MONDO:0032930 intellectual developmental disorder with poor growth and with or without seizures or ataxia skos:exactMatch UMLS:C5394135 semapv:UnspecifiedMatching MONDO:0032931 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal skos:exactMatch DOID:0081396 neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome semapv:UnspecifiedMatching MONDO:0032931 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal skos:exactMatch MEDGEN:1716458 semapv:UnspecifiedMatching MONDO:0032931 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal skos:exactMatch OMIM:618810 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal semapv:UnspecifiedMatching MONDO:0032931 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal skos:exactMatch Orphanet:615954 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome semapv:UnspecifiedMatching MONDO:0032931 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal skos:exactMatch UMLS:C5394137 semapv:UnspecifiedMatching MONDO:0032932 mitochondrial DNA depletion syndrome 18 skos:exactMatch DOID:0070449 mitochondrial DNA depletion syndrome 18 semapv:UnspecifiedMatching MONDO:0032932 mitochondrial DNA depletion syndrome 18 skos:exactMatch MEDGEN:1713890 semapv:UnspecifiedMatching MONDO:0032932 mitochondrial DNA depletion syndrome 18 skos:exactMatch OMIM:618811 mitochondrial DNA depletion syndrome 18 semapv:UnspecifiedMatching MONDO:0032932 mitochondrial DNA depletion syndrome 18 skos:exactMatch UMLS:C5394140 semapv:UnspecifiedMatching MONDO:0032933 chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant skos:exactMatch DOID:0070470 chromosome 1p36.33 duplication syndrome semapv:UnspecifiedMatching MONDO:0032933 chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant skos:exactMatch MEDGEN:1708515 semapv:UnspecifiedMatching MONDO:0032933 chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant skos:exactMatch OMIM:618815 chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant semapv:UnspecifiedMatching MONDO:0032933 chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant skos:exactMatch Orphanet:656279 1p36.33 duplication syndrome semapv:UnspecifiedMatching MONDO:0032933 chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant skos:exactMatch UMLS:C5394150 semapv:UnspecifiedMatching MONDO:0032934 genitourinary and/or brain malformation syndrome skos:exactMatch MEDGEN:1720440 semapv:UnspecifiedMatching MONDO:0032934 genitourinary and/or brain malformation syndrome skos:exactMatch OMIM:618820 genitourinary and/or brain malformation syndrome semapv:UnspecifiedMatching MONDO:0032934 genitourinary and/or brain malformation syndrome skos:exactMatch UMLS:C5394158 semapv:UnspecifiedMatching MONDO:0032935 rhizomelic limb shortening with dysmorphic features skos:exactMatch MEDGEN:1720321 semapv:UnspecifiedMatching MONDO:0032935 rhizomelic limb shortening with dysmorphic features skos:exactMatch OMIM:618821 rhizomelic limb shortening with dysmorphic features semapv:UnspecifiedMatching MONDO:0032935 rhizomelic limb shortening with dysmorphic features skos:exactMatch UMLS:C5394173 semapv:UnspecifiedMatching MONDO:0032936 myopathy, congenital, with respiratory insufficiency and bone fractures skos:exactMatch DOID:0081343 congenital myopathy 9A semapv:UnspecifiedMatching MONDO:0032936 myopathy, congenital, with respiratory insufficiency and bone fractures skos:exactMatch MEDGEN:1718097 semapv:UnspecifiedMatching MONDO:0032936 myopathy, congenital, with respiratory insufficiency and bone fractures skos:exactMatch OMIM:618822 congenital myopathy 9a semapv:UnspecifiedMatching MONDO:0032936 myopathy, congenital, with respiratory insufficiency and bone fractures skos:exactMatch UMLS:C5394189 semapv:UnspecifiedMatching MONDO:0032937 myopathy, congenital proximal, with minicore lesions skos:exactMatch DOID:0081344 congenital myopathy 9B semapv:UnspecifiedMatching MONDO:0032937 myopathy, congenital proximal, with minicore lesions skos:exactMatch MEDGEN:1717569 semapv:UnspecifiedMatching MONDO:0032937 myopathy, congenital proximal, with minicore lesions skos:exactMatch OMIM:618823 congenital myopathy 9b, proximal, with minicore lesions semapv:UnspecifiedMatching MONDO:0032937 myopathy, congenital proximal, with minicore lesions skos:exactMatch UMLS:C5394193 semapv:UnspecifiedMatching MONDO:0032938 basal ganglia calcification, idiopathic, 8, autosomal recessive skos:exactMatch MEDGEN:1713414 semapv:UnspecifiedMatching MONDO:0032938 basal ganglia calcification, idiopathic, 8, autosomal recessive skos:exactMatch OMIM:618824 basal ganglia calcification, idiopathic, 8, autosomal recessive semapv:UnspecifiedMatching MONDO:0032938 basal ganglia calcification, idiopathic, 8, autosomal recessive skos:exactMatch UMLS:C5394199 semapv:UnspecifiedMatching MONDO:0032939 intellectual developmental disorder, autosomal dominant 63, with macrocephaly skos:exactMatch DOID:0061036 autosomal dominant intellectual developmental disorder 63 with macrocephaly semapv:UnspecifiedMatching MONDO:0032939 intellectual developmental disorder, autosomal dominant 63, with macrocephaly skos:exactMatch MEDGEN:1716581 semapv:UnspecifiedMatching MONDO:0032939 intellectual developmental disorder, autosomal dominant 63, with macrocephaly skos:exactMatch OMIM:618825 intellectual developmental disorder, autosomal dominant 63, with macrocephaly semapv:UnspecifiedMatching MONDO:0032939 intellectual developmental disorder, autosomal dominant 63, with macrocephaly skos:exactMatch UMLS:C5394205 semapv:UnspecifiedMatching MONDO:0032940 retinitis pigmentosa 88 skos:exactMatch DOID:0112145 retinitis pigmentosa 88 semapv:UnspecifiedMatching MONDO:0032940 retinitis pigmentosa 88 skos:exactMatch MEDGEN:1720448 semapv:UnspecifiedMatching MONDO:0032940 retinitis pigmentosa 88 skos:exactMatch OMIM:618826 retinitis pigmentosa 88 semapv:UnspecifiedMatching MONDO:0032940 retinitis pigmentosa 88 skos:exactMatch UMLS:C5394208 semapv:UnspecifiedMatching MONDO:0032941 myopia 27 skos:exactMatch MEDGEN:1719756 semapv:UnspecifiedMatching MONDO:0032941 myopia 27 skos:exactMatch OMIM:618827 myopia 27, autosomal dominant semapv:UnspecifiedMatching MONDO:0032941 myopia 27 skos:exactMatch UMLS:C5394215 semapv:UnspecifiedMatching MONDO:0032942 neurodevelopmental disorder with microcephaly and dysmorphic facies skos:exactMatch MEDGEN:1719418 semapv:UnspecifiedMatching MONDO:0032942 neurodevelopmental disorder with microcephaly and dysmorphic facies skos:exactMatch OMIM:618828 nabais sa-de vries syndrome, type 1 semapv:UnspecifiedMatching MONDO:0032942 neurodevelopmental disorder with microcephaly and dysmorphic facies skos:exactMatch Orphanet:662179 Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0032942 neurodevelopmental disorder with microcephaly and dysmorphic facies skos:exactMatch UMLS:C5394218 semapv:UnspecifiedMatching MONDO:0032943 neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies skos:exactMatch MEDGEN:1714169 semapv:UnspecifiedMatching MONDO:0032943 neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies skos:exactMatch OMIM:618829 nabais sa-de vries syndrome, type 2 semapv:UnspecifiedMatching MONDO:0032943 neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies skos:exactMatch Orphanet:662175 Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0032943 neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies skos:exactMatch UMLS:C5394221 semapv:UnspecifiedMatching MONDO:0033004 polycystic kidney disease 4 skos:exactMatch DOID:0080212 polycystic kidney disease 4 semapv:UnspecifiedMatching MONDO:0033004 polycystic kidney disease 4 skos:exactMatch MEDGEN:1621793 semapv:UnspecifiedMatching MONDO:0033004 polycystic kidney disease 4 skos:exactMatch OMIM:263200 polycystic kidney disease 4 with or without polycystic liver disease semapv:UnspecifiedMatching MONDO:0033004 polycystic kidney disease 4 skos:exactMatch UMLS:C4540575 semapv:UnspecifiedMatching MONDO:0033005 Galloway-Mowat syndrome 1 skos:exactMatch DOID:0060364 Galloway-Mowat syndrome 1 semapv:UnspecifiedMatching MONDO:0033005 Galloway-Mowat syndrome 1 skos:exactMatch MEDGEN:1634188 semapv:UnspecifiedMatching MONDO:0033005 Galloway-Mowat syndrome 1 skos:exactMatch OMIM:251300 galloway-mowat syndrome 1 semapv:UnspecifiedMatching MONDO:0033005 Galloway-Mowat syndrome 1 skos:exactMatch UMLS:C4551772 semapv:UnspecifiedMatching MONDO:0033006 Galloway-Mowat syndrome 2, X-linked skos:exactMatch DOID:0080244 Galloway-Mowat syndrome 2 semapv:UnspecifiedMatching MONDO:0033006 Galloway-Mowat syndrome 2, X-linked skos:exactMatch MEDGEN:1625619 semapv:UnspecifiedMatching MONDO:0033006 Galloway-Mowat syndrome 2, X-linked skos:exactMatch OMIM:301006 galloway-mowat syndrome 2, X-linked semapv:UnspecifiedMatching MONDO:0033006 Galloway-Mowat syndrome 2, X-linked skos:exactMatch UMLS:C4538784 semapv:UnspecifiedMatching MONDO:0033007 Galloway-Mowat syndrome 3 skos:exactMatch DOID:0080245 Galloway-Mowat syndrome 3 semapv:UnspecifiedMatching MONDO:0033007 Galloway-Mowat syndrome 3 skos:exactMatch MEDGEN:1627611 semapv:UnspecifiedMatching MONDO:0033007 Galloway-Mowat syndrome 3 skos:exactMatch OMIM:617729 galloway-mowat syndrome 3 semapv:UnspecifiedMatching MONDO:0033007 Galloway-Mowat syndrome 3 skos:exactMatch UMLS:C4540266 semapv:UnspecifiedMatching MONDO:0033008 Galloway-Mowat syndrome 4 skos:exactMatch DOID:0080246 Galloway-Mowat syndrome 4 semapv:UnspecifiedMatching MONDO:0033008 Galloway-Mowat syndrome 4 skos:exactMatch MEDGEN:1613511 semapv:UnspecifiedMatching MONDO:0033008 Galloway-Mowat syndrome 4 skos:exactMatch OMIM:617730 galloway-mowat syndrome 4 semapv:UnspecifiedMatching MONDO:0033008 Galloway-Mowat syndrome 4 skos:exactMatch UMLS:C4540270 semapv:UnspecifiedMatching MONDO:0033009 Galloway-Mowat syndrome 5 skos:exactMatch DOID:0080247 Galloway-Mowat syndrome 5 semapv:UnspecifiedMatching MONDO:0033009 Galloway-Mowat syndrome 5 skos:exactMatch MEDGEN:1617227 semapv:UnspecifiedMatching MONDO:0033009 Galloway-Mowat syndrome 5 skos:exactMatch OMIM:617731 galloway-mowat syndrome 5 semapv:UnspecifiedMatching MONDO:0033009 Galloway-Mowat syndrome 5 skos:exactMatch UMLS:C4540274 semapv:UnspecifiedMatching MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 skos:exactMatch DOID:0111195 erythrokeratodermia variabilis et progressiva 1 semapv:UnspecifiedMatching MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 skos:exactMatch MEDGEN:1633225 semapv:UnspecifiedMatching MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 skos:exactMatch OMIM:133200 erythrokeratodermia variabilis et progressiva 1 semapv:UnspecifiedMatching MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 skos:exactMatch UMLS:C4551486 semapv:UnspecifiedMatching MONDO:0033012 erythrokeratodermia variabilis et progressiva 2 skos:exactMatch DOID:0080248 erythrokeratodermia variabilis et progressiva 2 semapv:UnspecifiedMatching MONDO:0033012 erythrokeratodermia variabilis et progressiva 2 skos:exactMatch MEDGEN:1379712 semapv:UnspecifiedMatching MONDO:0033012 erythrokeratodermia variabilis et progressiva 2 skos:exactMatch OMIM:617524 erythrokeratodermia variabilis et progressiva 2 semapv:UnspecifiedMatching MONDO:0033012 erythrokeratodermia variabilis et progressiva 2 skos:exactMatch UMLS:C4479618 semapv:UnspecifiedMatching MONDO:0033013 erythrokeratodermia variabilis et progressiva 3 skos:exactMatch DOID:0080249 erythrokeratodermia variabilis et progressiva 3 semapv:UnspecifiedMatching MONDO:0033013 erythrokeratodermia variabilis et progressiva 3 skos:exactMatch MEDGEN:1380593 semapv:UnspecifiedMatching MONDO:0033013 erythrokeratodermia variabilis et progressiva 3 skos:exactMatch OMIM:617525 erythrokeratodermia variabilis et progressiva 3 semapv:UnspecifiedMatching MONDO:0033013 erythrokeratodermia variabilis et progressiva 3 skos:exactMatch UMLS:C4479619 semapv:UnspecifiedMatching MONDO:0033014 erythrokeratodermia variabilis et progressiva 4 skos:exactMatch DOID:0080250 erythrokeratodermia variabilis et progressiva 4 semapv:UnspecifiedMatching MONDO:0033014 erythrokeratodermia variabilis et progressiva 4 skos:exactMatch MEDGEN:1372799 semapv:UnspecifiedMatching MONDO:0033014 erythrokeratodermia variabilis et progressiva 4 skos:exactMatch OMIM:617526 erythrokeratodermia variabilis et progressiva 4 semapv:UnspecifiedMatching MONDO:0033014 erythrokeratodermia variabilis et progressiva 4 skos:exactMatch UMLS:C4479620 semapv:UnspecifiedMatching MONDO:0033015 erythrokeratodermia variabilis et progressiva 5 skos:exactMatch DOID:0080251 erythrokeratodermia variabilis et progressiva 5 semapv:UnspecifiedMatching MONDO:0033015 erythrokeratodermia variabilis et progressiva 5 skos:exactMatch MEDGEN:1626376 semapv:UnspecifiedMatching MONDO:0033015 erythrokeratodermia variabilis et progressiva 5 skos:exactMatch OMIM:617756 erythrokeratodermia variabilis et progressiva 5 semapv:UnspecifiedMatching MONDO:0033015 erythrokeratodermia variabilis et progressiva 5 skos:exactMatch UMLS:C4540331 semapv:UnspecifiedMatching MONDO:0033043 spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy skos:exactMatch DOID:0080252 spastic ataxia 8 semapv:UnspecifiedMatching MONDO:0033043 spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy skos:exactMatch MEDGEN:1382553 semapv:UnspecifiedMatching MONDO:0033043 spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy skos:exactMatch OMIM:617560 spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy semapv:UnspecifiedMatching MONDO:0033043 spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy skos:exactMatch Orphanet:527497 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy semapv:UnspecifiedMatching MONDO:0033043 spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy skos:exactMatch UMLS:C4479653 semapv:UnspecifiedMatching MONDO:0033044 Meckel syndrome 13 skos:exactMatch DOID:0080253 Meckel syndrome 13 semapv:UnspecifiedMatching MONDO:0033044 Meckel syndrome 13 skos:exactMatch MEDGEN:1627793 semapv:UnspecifiedMatching MONDO:0033044 Meckel syndrome 13 skos:exactMatch OMIM:617562 meckel syndrome 13 semapv:UnspecifiedMatching MONDO:0033044 Meckel syndrome 13 skos:exactMatch UMLS:C4539714 semapv:UnspecifiedMatching MONDO:0033045 orofaciodigital syndrome 16 skos:exactMatch DOID:0080254 orofaciodigital syndrome XVI semapv:UnspecifiedMatching MONDO:0033045 orofaciodigital syndrome 16 skos:exactMatch MEDGEN:1620071 semapv:UnspecifiedMatching MONDO:0033045 orofaciodigital syndrome 16 skos:exactMatch OMIM:617563 orofaciodigital syndrome 16 semapv:UnspecifiedMatching MONDO:0033045 orofaciodigital syndrome 16 skos:exactMatch UMLS:C4539729 semapv:UnspecifiedMatching MONDO:0033046 Meier-Gorlin syndrome 8 skos:exactMatch DOID:0080255 Meier-Gorlin syndrome 8 semapv:UnspecifiedMatching MONDO:0033046 Meier-Gorlin syndrome 8 skos:exactMatch MEDGEN:1390366 semapv:UnspecifiedMatching MONDO:0033046 Meier-Gorlin syndrome 8 skos:exactMatch OMIM:617564 meier-gorlin syndrome 8 semapv:UnspecifiedMatching MONDO:0033046 Meier-Gorlin syndrome 8 skos:exactMatch UMLS:C4479655 semapv:UnspecifiedMatching MONDO:0033047 Perrault syndrome 6 skos:exactMatch DOID:0080256 Perrault syndrome 6 semapv:UnspecifiedMatching MONDO:0033047 Perrault syndrome 6 skos:exactMatch MEDGEN:1391447 semapv:UnspecifiedMatching MONDO:0033047 Perrault syndrome 6 skos:exactMatch OMIM:617565 perrault syndrome 6 semapv:UnspecifiedMatching MONDO:0033047 Perrault syndrome 6 skos:exactMatch UMLS:C4479656 semapv:UnspecifiedMatching MONDO:0033056 obsolete genetic facial cleft skos:exactMatch Orphanet:414726 Genetic facial cleft semapv:UnspecifiedMatching MONDO:0033091 ichthyosis, congenital, autosomal recessive 14 skos:exactMatch DOID:0080258 autosomal recessive congenital ichthyosis 14 semapv:UnspecifiedMatching MONDO:0033091 ichthyosis, congenital, autosomal recessive 14 skos:exactMatch MEDGEN:1620129 semapv:UnspecifiedMatching MONDO:0033091 ichthyosis, congenital, autosomal recessive 14 skos:exactMatch OMIM:617571 ichthyosis, congenital, autosomal recessive 14 semapv:UnspecifiedMatching MONDO:0033091 ichthyosis, congenital, autosomal recessive 14 skos:exactMatch UMLS:C4539754 semapv:UnspecifiedMatching MONDO:0033092 ichthyosis, congenital, autosomal recessive 13 skos:exactMatch DOID:0080257 autosomal recessive congenital ichthyosis 13 semapv:UnspecifiedMatching MONDO:0033092 ichthyosis, congenital, autosomal recessive 13 skos:exactMatch MEDGEN:1620886 semapv:UnspecifiedMatching MONDO:0033092 ichthyosis, congenital, autosomal recessive 13 skos:exactMatch OMIM:617574 ichthyosis, congenital, autosomal recessive 13 semapv:UnspecifiedMatching MONDO:0033092 ichthyosis, congenital, autosomal recessive 13 skos:exactMatch UMLS:C4539772 semapv:UnspecifiedMatching MONDO:0033115 spinocerebellar ataxia, autosomal recessive 25 skos:exactMatch DOID:0080259 autosomal recessive spinocerebellar ataxia 25 semapv:UnspecifiedMatching MONDO:0033115 spinocerebellar ataxia, autosomal recessive 25 skos:exactMatch MEDGEN:1618081 semapv:UnspecifiedMatching MONDO:0033115 spinocerebellar ataxia, autosomal recessive 25 skos:exactMatch OMIM:617584 spinocerebellar ataxia, autosomal recessive 25 semapv:UnspecifiedMatching MONDO:0033115 spinocerebellar ataxia, autosomal recessive 25 skos:exactMatch UMLS:C4539808 semapv:UnspecifiedMatching MONDO:0033116 spinocerebellar ataxia, autosomal recessive 26 skos:exactMatch DOID:0080260 autosomal recessive spinocerebellar ataxia 26 semapv:UnspecifiedMatching MONDO:0033116 spinocerebellar ataxia, autosomal recessive 26 skos:exactMatch MEDGEN:1617917 semapv:UnspecifiedMatching MONDO:0033116 spinocerebellar ataxia, autosomal recessive 26 skos:exactMatch OMIM:617633 spinocerebellar ataxia, autosomal recessive 26 semapv:UnspecifiedMatching MONDO:0033116 spinocerebellar ataxia, autosomal recessive 26 skos:exactMatch UMLS:C4539948 semapv:UnspecifiedMatching MONDO:0033123 exudative vitreoretinopathy 7 skos:exactMatch DOID:0080264 exudative vitreoretinopathy 7 semapv:UnspecifiedMatching MONDO:0033123 exudative vitreoretinopathy 7 skos:exactMatch MEDGEN:1626650 semapv:UnspecifiedMatching MONDO:0033123 exudative vitreoretinopathy 7 skos:exactMatch OMIM:617572 exudative vitreoretinopathy 7 semapv:UnspecifiedMatching MONDO:0033123 exudative vitreoretinopathy 7 skos:exactMatch UMLS:C4539767 semapv:UnspecifiedMatching MONDO:0033135 Charcot-Marie-Tooth disease, demyelinating, type 1G skos:exactMatch DOID:0111560 Charcot-Marie-Tooth disease type 1G semapv:UnspecifiedMatching MONDO:0033135 Charcot-Marie-Tooth disease, demyelinating, type 1G skos:exactMatch MEDGEN:1648290 semapv:UnspecifiedMatching MONDO:0033135 Charcot-Marie-Tooth disease, demyelinating, type 1G skos:exactMatch OMIM:618279 charcot-marie-tooth disease, demyelinating, type 1g semapv:UnspecifiedMatching MONDO:0033135 Charcot-Marie-Tooth disease, demyelinating, type 1G skos:exactMatch Orphanet:476394 PMP2-related Charcot-Marie-Tooth disease type 1 semapv:UnspecifiedMatching MONDO:0033135 Charcot-Marie-Tooth disease, demyelinating, type 1G skos:exactMatch UMLS:C4748940 semapv:UnspecifiedMatching MONDO:0033169 curariform drugs toxicity skos:exactMatch Orphanet:413693 semapv:UnspecifiedMatching MONDO:0033170 statin toxicity skos:exactMatch Orphanet:413696 semapv:UnspecifiedMatching MONDO:0033181 phenytoin or carbamazepine toxicity skos:exactMatch Orphanet:414750 semapv:UnspecifiedMatching MONDO:0033196 obsolete skin/hair/eye pigmentation, variation in skos:exactMatch OMIMPS:227220 Skin/hair/eye pigmentation, variation in semapv:UnspecifiedMatching MONDO:0033198 hearing loss, autosomal recessive 106 skos:exactMatch DOID:0080261 autosomal recessive nonsyndromic deafness 106 semapv:UnspecifiedMatching MONDO:0033198 hearing loss, autosomal recessive 106 skos:exactMatch MEDGEN:1627111 semapv:UnspecifiedMatching MONDO:0033198 hearing loss, autosomal recessive 106 skos:exactMatch OMIM:617637 deafness, autosomal recessive 106 semapv:UnspecifiedMatching MONDO:0033198 hearing loss, autosomal recessive 106 skos:exactMatch UMLS:C4539954 semapv:UnspecifiedMatching MONDO:0033199 hearing loss, autosomal recessive 107 skos:exactMatch DOID:0080262 autosomal recessive nonsyndromic deafness 107 semapv:UnspecifiedMatching MONDO:0033199 hearing loss, autosomal recessive 107 skos:exactMatch MEDGEN:1622558 semapv:UnspecifiedMatching MONDO:0033199 hearing loss, autosomal recessive 107 skos:exactMatch OMIM:617639 deafness, autosomal recessive 107 semapv:UnspecifiedMatching MONDO:0033199 hearing loss, autosomal recessive 107 skos:exactMatch UMLS:C4539964 semapv:UnspecifiedMatching MONDO:0033200 hearing loss, autosomal recessive 108 skos:exactMatch DOID:0080263 autosomal recessive nonsyndromic deafness 108 semapv:UnspecifiedMatching MONDO:0033200 hearing loss, autosomal recessive 108 skos:exactMatch MEDGEN:1627841 semapv:UnspecifiedMatching MONDO:0033200 hearing loss, autosomal recessive 108 skos:exactMatch OMIM:617654 deafness, autosomal recessive 108 semapv:UnspecifiedMatching MONDO:0033200 hearing loss, autosomal recessive 108 skos:exactMatch UMLS:C4539997 semapv:UnspecifiedMatching MONDO:0033201 hearing loss, autosomal recessive 57 skos:exactMatch DOID:0111635 autosomal recessive nonsyndromic deafness 57 semapv:UnspecifiedMatching MONDO:0033201 hearing loss, autosomal recessive 57 skos:exactMatch MEDGEN:1631180 semapv:UnspecifiedMatching MONDO:0033201 hearing loss, autosomal recessive 57 skos:exactMatch OMIM:618003 deafness, autosomal recessive 57 semapv:UnspecifiedMatching MONDO:0033201 hearing loss, autosomal recessive 57 skos:exactMatch UMLS:C4693893 semapv:UnspecifiedMatching MONDO:0033202 hearing loss, autosomal recessive 109 skos:exactMatch DOID:0111639 autosomal recessive nonsyndromic deafness 109 semapv:UnspecifiedMatching MONDO:0033202 hearing loss, autosomal recessive 109 skos:exactMatch MEDGEN:1633308 semapv:UnspecifiedMatching MONDO:0033202 hearing loss, autosomal recessive 109 skos:exactMatch OMIM:618013 deafness, autosomal recessive 109 semapv:UnspecifiedMatching MONDO:0033202 hearing loss, autosomal recessive 109 skos:exactMatch UMLS:C4693935 semapv:UnspecifiedMatching MONDO:0033203 nephrotic syndrome 14 skos:exactMatch DOID:0080265 RENI syndrome semapv:UnspecifiedMatching MONDO:0033203 nephrotic syndrome 14 skos:exactMatch MEDGEN:1617660 semapv:UnspecifiedMatching MONDO:0033203 nephrotic syndrome 14 skos:exactMatch OMIM:617575 RENI syndrome semapv:UnspecifiedMatching MONDO:0033203 nephrotic syndrome 14 skos:exactMatch Orphanet:506334 Familial steroid-resistant nephrotic syndrome with adrenal insufficiency semapv:UnspecifiedMatching MONDO:0033203 nephrotic syndrome 14 skos:exactMatch UMLS:C4540559 semapv:UnspecifiedMatching MONDO:0033204 ciliary dyskinesia, primary, 37 skos:exactMatch DOID:0080266 primary ciliary dyskinesia 37 semapv:UnspecifiedMatching MONDO:0033204 ciliary dyskinesia, primary, 37 skos:exactMatch MEDGEN:1615746 semapv:UnspecifiedMatching MONDO:0033204 ciliary dyskinesia, primary, 37 skos:exactMatch OMIM:617577 ciliary dyskinesia, primary, 37 semapv:UnspecifiedMatching MONDO:0033204 ciliary dyskinesia, primary, 37 skos:exactMatch UMLS:C4539798 semapv:UnspecifiedMatching MONDO:0033258 hearing loss, autosomal dominant 71 skos:exactMatch DOID:0080267 autosomal dominant nonsyndromic deafness 71 semapv:UnspecifiedMatching MONDO:0033258 hearing loss, autosomal dominant 71 skos:exactMatch MEDGEN:1621646 semapv:UnspecifiedMatching MONDO:0033258 hearing loss, autosomal dominant 71 skos:exactMatch OMIM:617605 deafness, autosomal dominant 71 semapv:UnspecifiedMatching MONDO:0033258 hearing loss, autosomal dominant 71 skos:exactMatch UMLS:C4539881 semapv:UnspecifiedMatching MONDO:0033259 hearing loss, autosomal dominant 72 skos:exactMatch DOID:0080268 autosomal dominant nonsyndromic deafness 72 semapv:UnspecifiedMatching MONDO:0033259 hearing loss, autosomal dominant 72 skos:exactMatch MEDGEN:1614203 semapv:UnspecifiedMatching MONDO:0033259 hearing loss, autosomal dominant 72 skos:exactMatch OMIM:617606 deafness, autosomal dominant 72 semapv:UnspecifiedMatching MONDO:0033259 hearing loss, autosomal dominant 72 skos:exactMatch UMLS:C4539886 semapv:UnspecifiedMatching MONDO:0033260 hearing loss, autosomal dominant 73 skos:exactMatch DOID:0080269 autosomal dominant nonsyndromic deafness 73 semapv:UnspecifiedMatching MONDO:0033260 hearing loss, autosomal dominant 73 skos:exactMatch MEDGEN:1627153 semapv:UnspecifiedMatching MONDO:0033260 hearing loss, autosomal dominant 73 skos:exactMatch OMIM:617663 deafness, autosomal dominant 73 semapv:UnspecifiedMatching MONDO:0033260 hearing loss, autosomal dominant 73 skos:exactMatch UMLS:C4540024 semapv:UnspecifiedMatching MONDO:0033261 hearing loss, autosomal dominant 34, with or without inflammation skos:exactMatch DOID:0080270 autosomal dominant nonsyndromic deafness 34 semapv:UnspecifiedMatching MONDO:0033261 hearing loss, autosomal dominant 34, with or without inflammation skos:exactMatch MEDGEN:1626346 semapv:UnspecifiedMatching MONDO:0033261 hearing loss, autosomal dominant 34, with or without inflammation skos:exactMatch OMIM:617772 deafness, autosomal dominant 34, with or without inflammation semapv:UnspecifiedMatching MONDO:0033261 hearing loss, autosomal dominant 34, with or without inflammation skos:exactMatch UMLS:C4521680 semapv:UnspecifiedMatching MONDO:0033262 nephrotic syndrome 15 skos:exactMatch DOID:0080271 nephrotic syndrome type 15 semapv:UnspecifiedMatching MONDO:0033262 nephrotic syndrome 15 skos:exactMatch MEDGEN:1620414 semapv:UnspecifiedMatching MONDO:0033262 nephrotic syndrome 15 skos:exactMatch OMIM:617609 nephrotic syndrome, type 15 semapv:UnspecifiedMatching MONDO:0033262 nephrotic syndrome 15 skos:exactMatch UMLS:C4539896 semapv:UnspecifiedMatching MONDO:0033280 nephrotic syndrome 16 skos:exactMatch DOID:0080272 nephrotic syndrome type 16 semapv:UnspecifiedMatching MONDO:0033280 nephrotic syndrome 16 skos:exactMatch MEDGEN:1622427 semapv:UnspecifiedMatching MONDO:0033280 nephrotic syndrome 16 skos:exactMatch OMIM:617783 nephrotic syndrome, type 16 semapv:UnspecifiedMatching MONDO:0033280 nephrotic syndrome 16 skos:exactMatch UMLS:C4540453 semapv:UnspecifiedMatching MONDO:0033281 polycystic kidney disease 5 skos:exactMatch DOID:0080273 polycystic kidney disease 5 semapv:UnspecifiedMatching MONDO:0033281 polycystic kidney disease 5 skos:exactMatch MEDGEN:1624679 semapv:UnspecifiedMatching MONDO:0033281 polycystic kidney disease 5 skos:exactMatch OMIM:617610 polycystic kidney disease 5 semapv:UnspecifiedMatching MONDO:0033281 polycystic kidney disease 5 skos:exactMatch UMLS:C4539903 semapv:UnspecifiedMatching MONDO:0033282 multiple mitochondrial dysfunctions syndrome 5 skos:exactMatch DOID:0080274 multiple mitochondrial dysfunctions syndrome 5 semapv:UnspecifiedMatching MONDO:0033282 multiple mitochondrial dysfunctions syndrome 5 skos:exactMatch MEDGEN:1623132 semapv:UnspecifiedMatching MONDO:0033282 multiple mitochondrial dysfunctions syndrome 5 skos:exactMatch OMIM:617613 multiple mitochondrial dysfunctions syndrome 5 semapv:UnspecifiedMatching MONDO:0033282 multiple mitochondrial dysfunctions syndrome 5 skos:exactMatch Orphanet:569274 Multiple mitochondrial dysfunctions syndrome type 5 semapv:UnspecifiedMatching MONDO:0033282 multiple mitochondrial dysfunctions syndrome 5 skos:exactMatch UMLS:C4539919 semapv:UnspecifiedMatching MONDO:0033304 nonsyndromic deafness, Y-linked skos:exactMatch DOID:0111757 Y-linked deafness semapv:UnspecifiedMatching MONDO:0033304 nonsyndromic deafness, Y-linked skos:exactMatch OMIMPS:400043 Deafness, Y-linked semapv:UnspecifiedMatching MONDO:0033308 Joubert syndrome 30 skos:exactMatch DOID:0080275 Joubert syndrome 30 semapv:UnspecifiedMatching MONDO:0033308 Joubert syndrome 30 skos:exactMatch MEDGEN:1613861 semapv:UnspecifiedMatching MONDO:0033308 Joubert syndrome 30 skos:exactMatch OMIM:617622 joubert syndrome 30 semapv:UnspecifiedMatching MONDO:0033308 Joubert syndrome 30 skos:exactMatch UMLS:C4539937 semapv:UnspecifiedMatching MONDO:0033309 Joubert syndrome 32 skos:exactMatch DOID:0080278 Joubert syndrome 32 semapv:UnspecifiedMatching MONDO:0033309 Joubert syndrome 32 skos:exactMatch MEDGEN:1626697 semapv:UnspecifiedMatching MONDO:0033309 Joubert syndrome 32 skos:exactMatch OMIM:617757 joubert syndrome 32 semapv:UnspecifiedMatching MONDO:0033309 Joubert syndrome 32 skos:exactMatch UMLS:C4540342 semapv:UnspecifiedMatching MONDO:0033310 Joubert syndrome 31 skos:exactMatch DOID:0080277 Joubert syndrome 31 semapv:UnspecifiedMatching MONDO:0033310 Joubert syndrome 31 skos:exactMatch MEDGEN:1618082 semapv:UnspecifiedMatching MONDO:0033310 Joubert syndrome 31 skos:exactMatch OMIM:617761 joubert syndrome 31 semapv:UnspecifiedMatching MONDO:0033310 Joubert syndrome 31 skos:exactMatch UMLS:C4540355 semapv:UnspecifiedMatching MONDO:0033311 Joubert syndrome 33 skos:exactMatch DOID:0080279 Joubert syndrome 33 semapv:UnspecifiedMatching MONDO:0033311 Joubert syndrome 33 skos:exactMatch MEDGEN:1615779 semapv:UnspecifiedMatching MONDO:0033311 Joubert syndrome 33 skos:exactMatch OMIM:617767 joubert syndrome 33 semapv:UnspecifiedMatching MONDO:0033311 Joubert syndrome 33 skos:exactMatch UMLS:C4540389 semapv:UnspecifiedMatching MONDO:0033312 schizophrenia 19 skos:exactMatch DOID:0080281 schizophrenia 19 semapv:UnspecifiedMatching MONDO:0033312 schizophrenia 19 skos:exactMatch MEDGEN:1613937 semapv:UnspecifiedMatching MONDO:0033312 schizophrenia 19 skos:exactMatch OMIM:617629 schizophrenia 19 semapv:UnspecifiedMatching MONDO:0033312 schizophrenia 19 skos:exactMatch UMLS:C4539944 semapv:UnspecifiedMatching MONDO:0033329 obsolete genetic precocious puberty skos:exactMatch Orphanet:435554 Genetic precocious puberty semapv:UnspecifiedMatching MONDO:0033331 obsolete genetic precocious puberty in female skos:exactMatch Orphanet:435564 Genetic precocious puberty in female semapv:UnspecifiedMatching MONDO:0033334 obsolete genetic nose and cavum anomaly skos:exactMatch Orphanet:435606 Genetic nose and cavum anomaly semapv:UnspecifiedMatching MONDO:0033335 obsolete genetic larynx anomaly skos:exactMatch Orphanet:435609 Genetic larynx anomaly semapv:UnspecifiedMatching MONDO:0033336 obsolete genetic tracheal anomaly skos:exactMatch Orphanet:435612 Genetic tracheal anomaly semapv:UnspecifiedMatching MONDO:0033352 neuropathy, congenital hypomelinating skos:exactMatch MEDGEN:97965 semapv:UnspecifiedMatching MONDO:0033352 neuropathy, congenital hypomelinating skos:exactMatch OMIMPS:605253 Neuropathy, congenital hypomelinating semapv:UnspecifiedMatching MONDO:0033352 neuropathy, congenital hypomelinating skos:exactMatch UMLS:C0393818 semapv:UnspecifiedMatching MONDO:0033361 developmental and epileptic encephalopathy, 52 skos:exactMatch DOID:0080455 developmental and epileptic encephalopathy 52 semapv:UnspecifiedMatching MONDO:0033361 developmental and epileptic encephalopathy, 52 skos:exactMatch MEDGEN:1376462 semapv:UnspecifiedMatching MONDO:0033361 developmental and epileptic encephalopathy, 52 skos:exactMatch OMIM:617350 developmental and epileptic encephalopathy 52 semapv:UnspecifiedMatching MONDO:0033361 developmental and epileptic encephalopathy, 52 skos:exactMatch UMLS:C4479236 semapv:UnspecifiedMatching MONDO:0033362 developmental and epileptic encephalopathy, 53 skos:exactMatch DOID:0080464 developmental and epileptic encephalopathy 53 semapv:UnspecifiedMatching MONDO:0033362 developmental and epileptic encephalopathy, 53 skos:exactMatch MEDGEN:1374886 semapv:UnspecifiedMatching MONDO:0033362 developmental and epileptic encephalopathy, 53 skos:exactMatch OMIM:617389 developmental and epileptic encephalopathy 53 semapv:UnspecifiedMatching MONDO:0033362 developmental and epileptic encephalopathy, 53 skos:exactMatch UMLS:C4479313 semapv:UnspecifiedMatching MONDO:0033363 developmental and epileptic encephalopathy, 54 skos:exactMatch DOID:0080418 developmental and epileptic encephalopathy 54 semapv:UnspecifiedMatching MONDO:0033363 developmental and epileptic encephalopathy, 54 skos:exactMatch MEDGEN:1392637 semapv:UnspecifiedMatching MONDO:0033363 developmental and epileptic encephalopathy, 54 skos:exactMatch OMIM:617391 developmental and epileptic encephalopathy 54 semapv:UnspecifiedMatching MONDO:0033363 developmental and epileptic encephalopathy, 54 skos:exactMatch UMLS:C4479319 semapv:UnspecifiedMatching MONDO:0033364 developmental and epileptic encephalopathy, 55 skos:exactMatch DOID:0080283 developmental and epileptic encephalopathy 55 semapv:UnspecifiedMatching MONDO:0033364 developmental and epileptic encephalopathy, 55 skos:exactMatch MEDGEN:1622363 semapv:UnspecifiedMatching MONDO:0033364 developmental and epileptic encephalopathy, 55 skos:exactMatch OMIM:617599 developmental and epileptic encephalopathy 55 semapv:UnspecifiedMatching MONDO:0033364 developmental and epileptic encephalopathy, 55 skos:exactMatch UMLS:C4539843 semapv:UnspecifiedMatching MONDO:0033365 developmental and epileptic encephalopathy, 56 skos:exactMatch DOID:0080282 developmental and epileptic encephalopathy 56 semapv:UnspecifiedMatching MONDO:0033365 developmental and epileptic encephalopathy, 56 skos:exactMatch MEDGEN:1621755 semapv:UnspecifiedMatching MONDO:0033365 developmental and epileptic encephalopathy, 56 skos:exactMatch OMIM:617665 developmental and epileptic encephalopathy 56 semapv:UnspecifiedMatching MONDO:0033365 developmental and epileptic encephalopathy, 56 skos:exactMatch UMLS:C4540034 semapv:UnspecifiedMatching MONDO:0033366 developmental and epileptic encephalopathy, 57 skos:exactMatch DOID:0080284 developmental and epileptic encephalopathy 57 semapv:UnspecifiedMatching MONDO:0033366 developmental and epileptic encephalopathy, 57 skos:exactMatch MEDGEN:1621769 semapv:UnspecifiedMatching MONDO:0033366 developmental and epileptic encephalopathy, 57 skos:exactMatch OMIM:617771 developmental and epileptic encephalopathy 57 semapv:UnspecifiedMatching MONDO:0033366 developmental and epileptic encephalopathy, 57 skos:exactMatch UMLS:C4540411 semapv:UnspecifiedMatching MONDO:0033367 developmental and epileptic encephalopathy, 58 skos:exactMatch DOID:0080285 developmental and epileptic encephalopathy 58 semapv:UnspecifiedMatching MONDO:0033367 developmental and epileptic encephalopathy, 58 skos:exactMatch MEDGEN:1646861 semapv:UnspecifiedMatching MONDO:0033367 developmental and epileptic encephalopathy, 58 skos:exactMatch OMIM:617830 developmental and epileptic encephalopathy 58 semapv:UnspecifiedMatching MONDO:0033367 developmental and epileptic encephalopathy, 58 skos:exactMatch UMLS:C4693367 semapv:UnspecifiedMatching MONDO:0033368 developmental and epileptic encephalopathy, 59 skos:exactMatch DOID:0080291 developmental and epileptic encephalopathy 59 semapv:UnspecifiedMatching MONDO:0033368 developmental and epileptic encephalopathy, 59 skos:exactMatch MEDGEN:1633749 semapv:UnspecifiedMatching MONDO:0033368 developmental and epileptic encephalopathy, 59 skos:exactMatch OMIM:617904 developmental and epileptic encephalopathy 59 semapv:UnspecifiedMatching MONDO:0033368 developmental and epileptic encephalopathy, 59 skos:exactMatch UMLS:C4693550 semapv:UnspecifiedMatching MONDO:0033369 developmental and epileptic encephalopathy, 60 skos:exactMatch DOID:0080432 developmental and epileptic encephalopathy 60 semapv:UnspecifiedMatching MONDO:0033369 developmental and epileptic encephalopathy, 60 skos:exactMatch MEDGEN:1638894 semapv:UnspecifiedMatching MONDO:0033369 developmental and epileptic encephalopathy, 60 skos:exactMatch OMIM:617929 developmental and epileptic encephalopathy 60 semapv:UnspecifiedMatching MONDO:0033369 developmental and epileptic encephalopathy, 60 skos:exactMatch UMLS:C4693663 semapv:UnspecifiedMatching MONDO:0033370 developmental and epileptic encephalopathy, 61 skos:exactMatch DOID:0080434 developmental and epileptic encephalopathy 61 semapv:UnspecifiedMatching MONDO:0033370 developmental and epileptic encephalopathy, 61 skos:exactMatch MEDGEN:1639392 semapv:UnspecifiedMatching MONDO:0033370 developmental and epileptic encephalopathy, 61 skos:exactMatch OMIM:617933 developmental and epileptic encephalopathy 61 semapv:UnspecifiedMatching MONDO:0033370 developmental and epileptic encephalopathy, 61 skos:exactMatch UMLS:C4693688 semapv:UnspecifiedMatching MONDO:0033371 developmental and epileptic encephalopathy, 62 skos:exactMatch DOID:0080420 developmental and epileptic encephalopathy 62 semapv:UnspecifiedMatching MONDO:0033371 developmental and epileptic encephalopathy, 62 skos:exactMatch MEDGEN:1631233 semapv:UnspecifiedMatching MONDO:0033371 developmental and epileptic encephalopathy, 62 skos:exactMatch OMIM:617938 developmental and epileptic encephalopathy 62 semapv:UnspecifiedMatching MONDO:0033371 developmental and epileptic encephalopathy, 62 skos:exactMatch UMLS:C4693699 semapv:UnspecifiedMatching MONDO:0033372 developmental and epileptic encephalopathy, 63 skos:exactMatch DOID:0080426 developmental and epileptic encephalopathy 63 semapv:UnspecifiedMatching MONDO:0033372 developmental and epileptic encephalopathy, 63 skos:exactMatch MEDGEN:1646846 semapv:UnspecifiedMatching MONDO:0033372 developmental and epileptic encephalopathy, 63 skos:exactMatch OMIM:617976 developmental and epileptic encephalopathy 63 semapv:UnspecifiedMatching MONDO:0033372 developmental and epileptic encephalopathy, 63 skos:exactMatch UMLS:C4693810 semapv:UnspecifiedMatching MONDO:0033373 developmental and epileptic encephalopathy, 64 skos:exactMatch DOID:0070375 developmental and epileptic encephalopathy 64 semapv:UnspecifiedMatching MONDO:0033373 developmental and epileptic encephalopathy, 64 skos:exactMatch MEDGEN:1633501 semapv:UnspecifiedMatching MONDO:0033373 developmental and epileptic encephalopathy, 64 skos:exactMatch OMIM:618004 developmental and epileptic encephalopathy 64 semapv:UnspecifiedMatching MONDO:0033373 developmental and epileptic encephalopathy, 64 skos:exactMatch UMLS:C4693899 semapv:UnspecifiedMatching MONDO:0033374 developmental and epileptic encephalopathy, 65 skos:exactMatch DOID:0080430 developmental and epileptic encephalopathy 65 semapv:UnspecifiedMatching MONDO:0033374 developmental and epileptic encephalopathy, 65 skos:exactMatch MEDGEN:1634676 semapv:UnspecifiedMatching MONDO:0033374 developmental and epileptic encephalopathy, 65 skos:exactMatch OMIM:618008 developmental and epileptic encephalopathy 65 semapv:UnspecifiedMatching MONDO:0033374 developmental and epileptic encephalopathy, 65 skos:exactMatch UMLS:C4693925 semapv:UnspecifiedMatching MONDO:0033375 orofaciodigital syndrome 17 skos:exactMatch DOID:0080289 orofaciodigital syndrome XVII semapv:UnspecifiedMatching MONDO:0033375 orofaciodigital syndrome 17 skos:exactMatch MEDGEN:1644516 semapv:UnspecifiedMatching MONDO:0033375 orofaciodigital syndrome 17 skos:exactMatch OMIM:617926 orofaciodigital syndrome 17 semapv:UnspecifiedMatching MONDO:0033375 orofaciodigital syndrome 17 skos:exactMatch UMLS:C4693640 semapv:UnspecifiedMatching MONDO:0033479 spinocerebellar ataxia 44 skos:exactMatch DOID:0080286 spinocerebellar ataxia 44 semapv:UnspecifiedMatching MONDO:0033479 spinocerebellar ataxia 44 skos:exactMatch MEDGEN:1611168 semapv:UnspecifiedMatching MONDO:0033479 spinocerebellar ataxia 44 skos:exactMatch OMIM:617691 spinocerebellar ataxia 44 semapv:UnspecifiedMatching MONDO:0033479 spinocerebellar ataxia 44 skos:exactMatch Orphanet:631095 Spinocerebellar ataxia type 44 semapv:UnspecifiedMatching MONDO:0033479 spinocerebellar ataxia 44 skos:exactMatch UMLS:C4521563 semapv:UnspecifiedMatching MONDO:0033480 spinocerebellar ataxia 45 skos:exactMatch DOID:0080287 spinocerebellar ataxia 45 semapv:UnspecifiedMatching MONDO:0033480 spinocerebellar ataxia 45 skos:exactMatch MEDGEN:1622156 semapv:UnspecifiedMatching MONDO:0033480 spinocerebellar ataxia 45 skos:exactMatch OMIM:617769 spinocerebellar ataxia 45 semapv:UnspecifiedMatching MONDO:0033480 spinocerebellar ataxia 45 skos:exactMatch Orphanet:589527 Spinocerebellar ataxia type 45 semapv:UnspecifiedMatching MONDO:0033480 spinocerebellar ataxia 45 skos:exactMatch UMLS:C4540400 semapv:UnspecifiedMatching MONDO:0033481 spinocerebellar ataxia 46 skos:exactMatch DOID:0080288 spinocerebellar ataxia 46 semapv:UnspecifiedMatching MONDO:0033481 spinocerebellar ataxia 46 skos:exactMatch MEDGEN:1624251 semapv:UnspecifiedMatching MONDO:0033481 spinocerebellar ataxia 46 skos:exactMatch OMIM:617770 spinocerebellar ataxia 46 semapv:UnspecifiedMatching MONDO:0033481 spinocerebellar ataxia 46 skos:exactMatch Orphanet:589522 Spinocerebellar ataxia type 46 semapv:UnspecifiedMatching MONDO:0033481 spinocerebellar ataxia 46 skos:exactMatch UMLS:C4540404 semapv:UnspecifiedMatching MONDO:0033482 spinocerebellar ataxia 47 skos:exactMatch DOID:0111743 cerebellar ataxia type 47 semapv:UnspecifiedMatching MONDO:0033482 spinocerebellar ataxia 47 skos:exactMatch MEDGEN:1636349 semapv:UnspecifiedMatching MONDO:0033482 spinocerebellar ataxia 47 skos:exactMatch Orphanet:642747 PUM1-related cerebellar ataxia semapv:UnspecifiedMatching MONDO:0033482 spinocerebellar ataxia 47 skos:exactMatch UMLS:C4693672 semapv:UnspecifiedMatching MONDO:0033483 erythrocytosis, familial, 5 skos:exactMatch DOID:0080290 familial erythrocytosis 5 semapv:UnspecifiedMatching MONDO:0033483 erythrocytosis, familial, 5 skos:exactMatch MEDGEN:1638941 semapv:UnspecifiedMatching MONDO:0033483 erythrocytosis, familial, 5 skos:exactMatch OMIM:617907 erythrocytosis, familial, 5 semapv:UnspecifiedMatching MONDO:0033483 erythrocytosis, familial, 5 skos:exactMatch UMLS:C4693552 semapv:UnspecifiedMatching MONDO:0033485 short-rib thoracic dysplasia 19 with or without polydactyly skos:exactMatch DOID:0080295 short-rib thoracic dysplasia 19 with or without polydactyly semapv:UnspecifiedMatching MONDO:0033485 short-rib thoracic dysplasia 19 with or without polydactyly skos:exactMatch MEDGEN:1635837 semapv:UnspecifiedMatching MONDO:0033485 short-rib thoracic dysplasia 19 with or without polydactyly skos:exactMatch OMIM:617895 short-rib thoracic dysplasia 19 with or without polydactyly semapv:UnspecifiedMatching MONDO:0033485 short-rib thoracic dysplasia 19 with or without polydactyly skos:exactMatch UMLS:C4693524 semapv:UnspecifiedMatching MONDO:0033486 leukodystrophy, hypomyelinating, 14 skos:exactMatch DOID:0080296 hypomyelinating leukodystrophy 14 semapv:UnspecifiedMatching MONDO:0033486 leukodystrophy, hypomyelinating, 14 skos:exactMatch MEDGEN:1635255 semapv:UnspecifiedMatching MONDO:0033486 leukodystrophy, hypomyelinating, 14 skos:exactMatch OMIM:617899 leukodystrophy, hypomyelinating, 14 semapv:UnspecifiedMatching MONDO:0033486 leukodystrophy, hypomyelinating, 14 skos:exactMatch UMLS:C4693535 semapv:UnspecifiedMatching MONDO:0033492 Coffin-Siris syndrome 6 skos:exactMatch DOID:0080297 Coffin-Siris syndrome 6 semapv:UnspecifiedMatching MONDO:0033492 Coffin-Siris syndrome 6 skos:exactMatch MEDGEN:1615540 semapv:UnspecifiedMatching MONDO:0033492 Coffin-Siris syndrome 6 skos:exactMatch OMIM:617808 coffin-siris syndrome 6 semapv:UnspecifiedMatching MONDO:0033492 Coffin-Siris syndrome 6 skos:exactMatch UMLS:C4540499 semapv:UnspecifiedMatching MONDO:0033493 fibromatosis, gingival, 5 skos:exactMatch DOID:0080280 gingival fibromatosis 5 semapv:UnspecifiedMatching MONDO:0033493 fibromatosis, gingival, 5 skos:exactMatch MEDGEN:1624392 semapv:UnspecifiedMatching MONDO:0033493 fibromatosis, gingival, 5 skos:exactMatch OMIM:617626 fibromatosis, gingival, 5 semapv:UnspecifiedMatching MONDO:0033493 fibromatosis, gingival, 5 skos:exactMatch UMLS:C4539942 semapv:UnspecifiedMatching MONDO:0033532 Suleiman-El-Hattab syndrome skos:exactMatch MEDGEN:1738652 semapv:UnspecifiedMatching MONDO:0033532 Suleiman-El-Hattab syndrome skos:exactMatch OMIM:618950 suleiman-el-hattab syndrome semapv:UnspecifiedMatching MONDO:0033532 Suleiman-El-Hattab syndrome skos:exactMatch UMLS:C5436458 semapv:UnspecifiedMatching MONDO:0033533 combined oxidative phosphorylation deficiency 45 skos:exactMatch DOID:0112113 combined oxidative phosphorylation deficiency 45 semapv:UnspecifiedMatching MONDO:0033533 combined oxidative phosphorylation deficiency 45 skos:exactMatch MEDGEN:1731010 semapv:UnspecifiedMatching MONDO:0033533 combined oxidative phosphorylation deficiency 45 skos:exactMatch OMIM:618951 combined oxidative phosphorylation deficiency 45 semapv:UnspecifiedMatching MONDO:0033533 combined oxidative phosphorylation deficiency 45 skos:exactMatch UMLS:C5436461 semapv:UnspecifiedMatching MONDO:0033534 combined oxidative phosphorylation deficiency 46 skos:exactMatch DOID:0112115 combined oxidative phosphorylation deficiency 46 semapv:UnspecifiedMatching MONDO:0033534 combined oxidative phosphorylation deficiency 46 skos:exactMatch MEDGEN:1752252 semapv:UnspecifiedMatching MONDO:0033534 combined oxidative phosphorylation deficiency 46 skos:exactMatch OMIM:618952 combined oxidative phosphorylation deficiency 46 semapv:UnspecifiedMatching MONDO:0033534 combined oxidative phosphorylation deficiency 46 skos:exactMatch UMLS:C5436466 semapv:UnspecifiedMatching MONDO:0033537 combined oxidative phosphorylation deficiency 47 skos:exactMatch DOID:0112114 combined oxidative phosphorylation deficiency 47 semapv:UnspecifiedMatching MONDO:0033537 combined oxidative phosphorylation deficiency 47 skos:exactMatch MEDGEN:1775535 semapv:UnspecifiedMatching MONDO:0033537 combined oxidative phosphorylation deficiency 47 skos:exactMatch OMIM:618958 combined oxidative phosphorylation deficiency 47 semapv:UnspecifiedMatching MONDO:0033537 combined oxidative phosphorylation deficiency 47 skos:exactMatch UMLS:C5436476 semapv:UnspecifiedMatching MONDO:0033541 immunodeficiency 69 skos:exactMatch DOID:0112006 immunodeficiency 69 semapv:UnspecifiedMatching MONDO:0033541 immunodeficiency 69 skos:exactMatch MEDGEN:1735911 semapv:UnspecifiedMatching MONDO:0033541 immunodeficiency 69 skos:exactMatch OMIM:618963 immunodeficiency 69 semapv:UnspecifiedMatching MONDO:0033541 immunodeficiency 69 skos:exactMatch Orphanet:699618 Severe mendelian susceptibility to mycobacterial diseases due to complete IFNG deficiency semapv:UnspecifiedMatching MONDO:0033541 immunodeficiency 69 skos:exactMatch UMLS:C5436498 semapv:UnspecifiedMatching MONDO:0033542 immunodeficiency 70 skos:exactMatch DOID:0112005 immunodeficiency 70 semapv:UnspecifiedMatching MONDO:0033542 immunodeficiency 70 skos:exactMatch MEDGEN:1740270 semapv:UnspecifiedMatching MONDO:0033542 immunodeficiency 70 skos:exactMatch OMIM:618969 immunodeficiency 70 semapv:UnspecifiedMatching MONDO:0033542 immunodeficiency 70 skos:exactMatch UMLS:C5436501 semapv:UnspecifiedMatching MONDO:0033543 cone-rod synaptic disorder syndrome, congenital nonprogressive skos:exactMatch MEDGEN:1773574 semapv:UnspecifiedMatching MONDO:0033543 cone-rod synaptic disorder syndrome, congenital nonprogressive skos:exactMatch OMIM:618970 cone-rod synaptic disorder syndrome, congenital nonprogressive semapv:UnspecifiedMatching MONDO:0033543 cone-rod synaptic disorder syndrome, congenital nonprogressive skos:exactMatch UMLS:C5436505 semapv:UnspecifiedMatching MONDO:0033544 Tolchin-Le Caignec syndrome skos:exactMatch MEDGEN:1724999 semapv:UnspecifiedMatching MONDO:0033544 Tolchin-Le Caignec syndrome skos:exactMatch OMIM:618971 tolchin-le caignec syndrome semapv:UnspecifiedMatching MONDO:0033544 Tolchin-Le Caignec syndrome skos:exactMatch UMLS:C5436509 semapv:UnspecifiedMatching MONDO:0033545 mitochondrial DNA depletion syndrome 19 skos:exactMatch DOID:0070450 mitochondrial DNA depletion syndrome 19 semapv:UnspecifiedMatching MONDO:0033545 mitochondrial DNA depletion syndrome 19 skos:exactMatch MEDGEN:1770258 semapv:UnspecifiedMatching MONDO:0033545 mitochondrial DNA depletion syndrome 19 skos:exactMatch OMIM:618972 mitochondrial DNA depletion syndrome 19 semapv:UnspecifiedMatching MONDO:0033545 mitochondrial DNA depletion syndrome 19 skos:exactMatch UMLS:C5436514 semapv:UnspecifiedMatching MONDO:0033546 neurodegeneration, infantile-onset, biotin-responsive skos:exactMatch MEDGEN:1771692 semapv:UnspecifiedMatching MONDO:0033546 neurodegeneration, infantile-onset, biotin-responsive skos:exactMatch OMIM:618973 sodium-dependent multivitamin transporter deficiency semapv:UnspecifiedMatching MONDO:0033546 neurodegeneration, infantile-onset, biotin-responsive skos:exactMatch Orphanet:521268 Sodium-dependent multivitamin transporter deficiency semapv:UnspecifiedMatching MONDO:0033546 neurodegeneration, infantile-onset, biotin-responsive skos:exactMatch UMLS:C5436520 semapv:UnspecifiedMatching MONDO:0033547 Li-Ghorbani-Weisz-Hubshman syndrome skos:exactMatch MEDGEN:1763263 semapv:UnspecifiedMatching MONDO:0033547 Li-Ghorbani-Weisz-Hubshman syndrome skos:exactMatch OMIM:618974 li-ghorbani-weisz-hubshman syndrome semapv:UnspecifiedMatching MONDO:0033547 Li-Ghorbani-Weisz-Hubshman syndrome skos:exactMatch UMLS:C5436525 semapv:UnspecifiedMatching MONDO:0033548 myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies skos:exactMatch DOID:0081349 congenital myopathy 17 semapv:UnspecifiedMatching MONDO:0033548 myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies skos:exactMatch MEDGEN:1764743 semapv:UnspecifiedMatching MONDO:0033548 myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies skos:exactMatch OMIM:618975 congenital myopathy 17 semapv:UnspecifiedMatching MONDO:0033548 myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies skos:exactMatch UMLS:C5436530 semapv:UnspecifiedMatching MONDO:0033549 optic atrophy 12 skos:exactMatch DOID:0080840 optic atrophy 12 semapv:UnspecifiedMatching MONDO:0033549 optic atrophy 12 skos:exactMatch MEDGEN:1720703 semapv:UnspecifiedMatching MONDO:0033549 optic atrophy 12 skos:exactMatch OMIM:618977 optic atrophy 12 semapv:UnspecifiedMatching MONDO:0033549 optic atrophy 12 skos:exactMatch UMLS:C5436534 semapv:UnspecifiedMatching MONDO:0033550 obsolete high density lipoprotein cholesterol level quantitative trait locus 7 skos:exactMatch OMIM:618979 high density lipoprotein cholesterol level quantitative trait locus 7 semapv:UnspecifiedMatching MONDO:0033551 immunodeficiency 72 with autoinflammation skos:exactMatch DOID:0112015 immunodeficiency 72 semapv:UnspecifiedMatching MONDO:0033551 immunodeficiency 72 with autoinflammation skos:exactMatch MEDGEN:1749856 semapv:UnspecifiedMatching MONDO:0033551 immunodeficiency 72 with autoinflammation skos:exactMatch OMIM:618982 immunodeficiency 72 with autoinflammation and lymphoproliferation semapv:UnspecifiedMatching MONDO:0033551 immunodeficiency 72 with autoinflammation skos:exactMatch UMLS:C5436540 semapv:UnspecifiedMatching MONDO:0033552 obsolete blood group, lewis system skos:exactMatch OMIM:618983 blood group, lewis system semapv:UnspecifiedMatching MONDO:0033554 immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia skos:exactMatch DOID:0112061 immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia semapv:UnspecifiedMatching MONDO:0033554 immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia skos:exactMatch MEDGEN:1740566 semapv:UnspecifiedMatching MONDO:0033554 immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia skos:exactMatch OMIM:618986 immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia semapv:UnspecifiedMatching MONDO:0033554 immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia skos:exactMatch UMLS:C5436549 semapv:UnspecifiedMatching MONDO:0033555 immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia skos:exactMatch DOID:0112062 immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia semapv:UnspecifiedMatching MONDO:0033555 immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia skos:exactMatch MEDGEN:1734177 semapv:UnspecifiedMatching MONDO:0033555 immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia skos:exactMatch OMIM:618987 immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia semapv:UnspecifiedMatching MONDO:0033555 immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia skos:exactMatch UMLS:C5436550 semapv:UnspecifiedMatching MONDO:0033556 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 skos:exactMatch DOID:0112376 muscular dystrophy-dystroglycanopathy type B15 semapv:UnspecifiedMatching MONDO:0033556 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 skos:exactMatch MEDGEN:1755743 semapv:UnspecifiedMatching MONDO:0033556 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 skos:exactMatch OMIM:618992 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 15 semapv:UnspecifiedMatching MONDO:0033556 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 skos:exactMatch UMLS:C5436552 semapv:UnspecifiedMatching MONDO:0033557 hemophagocytic lymphohistiocytosis, familial, 6 skos:exactMatch MEDGEN:1736944 semapv:UnspecifiedMatching MONDO:0033557 hemophagocytic lymphohistiocytosis, familial, 6 skos:exactMatch OMIM:618998 immune dysregulation and systemic hyperinflammation syndrome semapv:UnspecifiedMatching MONDO:0033557 hemophagocytic lymphohistiocytosis, familial, 6 skos:exactMatch UMLS:C5436563 semapv:UnspecifiedMatching MONDO:0033558 autoinflammation, immune dysregulation, and eosinophilia skos:exactMatch MEDGEN:1750270 semapv:UnspecifiedMatching MONDO:0033558 autoinflammation, immune dysregulation, and eosinophilia skos:exactMatch OMIM:618999 autoinflammation, immune dysregulation, and eosinophilia semapv:UnspecifiedMatching MONDO:0033558 autoinflammation, immune dysregulation, and eosinophilia skos:exactMatch UMLS:C5436572 semapv:UnspecifiedMatching MONDO:0033559 intellectual developmental disorder with seizures and language delay skos:exactMatch MEDGEN:1740295 semapv:UnspecifiedMatching MONDO:0033559 intellectual developmental disorder with seizures and language delay skos:exactMatch OMIM:619000 intellectual developmental disorder with seizures and language delay semapv:UnspecifiedMatching MONDO:0033559 intellectual developmental disorder with seizures and language delay skos:exactMatch UMLS:C5436574 semapv:UnspecifiedMatching MONDO:0033560 mitochondrial complex 1 deficiency, nuclear type 35 skos:exactMatch DOID:0112139 nuclear type mitochondrial complex I deficiency 35 semapv:UnspecifiedMatching MONDO:0033560 mitochondrial complex 1 deficiency, nuclear type 35 skos:exactMatch MEDGEN:1745427 semapv:UnspecifiedMatching MONDO:0033560 mitochondrial complex 1 deficiency, nuclear type 35 skos:exactMatch OMIM:619003 mitochondrial complex 1 deficiency, nuclear type 35 semapv:UnspecifiedMatching MONDO:0033560 mitochondrial complex 1 deficiency, nuclear type 35 skos:exactMatch UMLS:C5436576 semapv:UnspecifiedMatching MONDO:0033561 deeah syndrome skos:exactMatch MEDGEN:1756624 semapv:UnspecifiedMatching MONDO:0033561 deeah syndrome skos:exactMatch OMIM:619004 DEEAH syndrome semapv:UnspecifiedMatching MONDO:0033561 deeah syndrome skos:exactMatch Orphanet:686495 MADD-related developmental delay-endocrine dysfunction-hypohemoglobinemia syndrome semapv:UnspecifiedMatching MONDO:0033561 deeah syndrome skos:exactMatch UMLS:C5436579 semapv:UnspecifiedMatching MONDO:0033562 neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia skos:exactMatch MEDGEN:1776912 semapv:UnspecifiedMatching MONDO:0033562 neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia skos:exactMatch OMIM:619005 neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia semapv:UnspecifiedMatching MONDO:0033562 neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia skos:exactMatch UMLS:C5436585 semapv:UnspecifiedMatching MONDO:0033563 retinitis pigmentosa 90 skos:exactMatch DOID:0112147 retinitis pigmentosa 90 semapv:UnspecifiedMatching MONDO:0033563 retinitis pigmentosa 90 skos:exactMatch MEDGEN:1733837 semapv:UnspecifiedMatching MONDO:0033563 retinitis pigmentosa 90 skos:exactMatch OMIM:619007 retinitis pigmentosa 90 semapv:UnspecifiedMatching MONDO:0033563 retinitis pigmentosa 90 skos:exactMatch UMLS:C5436588 semapv:UnspecifiedMatching MONDO:0033564 oocyte maturation defect 8 skos:exactMatch MEDGEN:1776094 semapv:UnspecifiedMatching MONDO:0033564 oocyte maturation defect 8 skos:exactMatch OMIM:619009 oocyte/zygote/embryo maturation arrest 8 semapv:UnspecifiedMatching MONDO:0033564 oocyte maturation defect 8 skos:exactMatch UMLS:C5436597 semapv:UnspecifiedMatching MONDO:0033565 oocyte maturation defect 9 skos:exactMatch MEDGEN:1724427 semapv:UnspecifiedMatching MONDO:0033565 oocyte maturation defect 9 skos:exactMatch OMIM:619011 oocyte/zygote/embryo maturation arrest 9 semapv:UnspecifiedMatching MONDO:0033565 oocyte maturation defect 9 skos:exactMatch UMLS:C5436599 semapv:UnspecifiedMatching MONDO:0033566 combined oxidative phosphorylation deficiency 48 skos:exactMatch DOID:0112112 combined oxidative phosphorylation deficiency 48 semapv:UnspecifiedMatching MONDO:0033566 combined oxidative phosphorylation deficiency 48 skos:exactMatch MEDGEN:1732052 semapv:UnspecifiedMatching MONDO:0033566 combined oxidative phosphorylation deficiency 48 skos:exactMatch OMIM:619012 combined oxidative phosphorylation deficiency 48 semapv:UnspecifiedMatching MONDO:0033566 combined oxidative phosphorylation deficiency 48 skos:exactMatch UMLS:C5436602 semapv:UnspecifiedMatching MONDO:0033569 combined oxidative phosphorylation deficiency 49 skos:exactMatch DOID:0112110 combined oxidative phosphorylation deficiency 49 semapv:UnspecifiedMatching MONDO:0033569 combined oxidative phosphorylation deficiency 49 skos:exactMatch MEDGEN:1762338 semapv:UnspecifiedMatching MONDO:0033569 combined oxidative phosphorylation deficiency 49 skos:exactMatch OMIM:619024 combined oxidative phosphorylation deficiency 49 semapv:UnspecifiedMatching MONDO:0033569 combined oxidative phosphorylation deficiency 49 skos:exactMatch UMLS:C5436616 semapv:UnspecifiedMatching MONDO:0033570 combined oxidative phosphorylation deficiency 50 skos:exactMatch DOID:0112111 combined oxidative phosphorylation deficiency 50 semapv:UnspecifiedMatching MONDO:0033570 combined oxidative phosphorylation deficiency 50 skos:exactMatch MEDGEN:1753519 semapv:UnspecifiedMatching MONDO:0033570 combined oxidative phosphorylation deficiency 50 skos:exactMatch OMIM:619025 combined oxidative phosphorylation deficiency 50 semapv:UnspecifiedMatching MONDO:0033570 combined oxidative phosphorylation deficiency 50 skos:exactMatch UMLS:C5436623 semapv:UnspecifiedMatching MONDO:0033571 obsolete skeletal muscle glycogen content and metabolism quantitative trait locus skos:exactMatch OMIM:619030 skeletal muscle glycogen content and metabolism quantitative trait locus semapv:UnspecifiedMatching MONDO:0033572 intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies skos:exactMatch MEDGEN:1759589 semapv:UnspecifiedMatching MONDO:0033572 intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies skos:exactMatch OMIM:619031 intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies semapv:UnspecifiedMatching MONDO:0033572 intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies skos:exactMatch UMLS:C5436646 semapv:UnspecifiedMatching MONDO:0033613 neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities skos:exactMatch MEDGEN:1736667 semapv:UnspecifiedMatching MONDO:0033613 neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities skos:exactMatch OMIM:619026 neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities semapv:UnspecifiedMatching MONDO:0033613 neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities skos:exactMatch Orphanet:641353 Infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome semapv:UnspecifiedMatching MONDO:0033613 neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities skos:exactMatch UMLS:C5436628 semapv:UnspecifiedMatching MONDO:0033613 neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities skos:exactMatch mesh:C567853 semapv:UnspecifiedMatching MONDO:0033614 spastic paraplegia 83, autosomal recessive skos:exactMatch DOID:0112346 hereditary spastic paraplegia 83 semapv:UnspecifiedMatching MONDO:0033614 spastic paraplegia 83, autosomal recessive skos:exactMatch MEDGEN:1759445 semapv:UnspecifiedMatching MONDO:0033614 spastic paraplegia 83, autosomal recessive skos:exactMatch OMIM:619027 spastic paraplegia 83, autosomal recessive semapv:UnspecifiedMatching MONDO:0033614 spastic paraplegia 83, autosomal recessive skos:exactMatch Orphanet:631076 Autosomal recessive spastic paraplegia type 83 semapv:UnspecifiedMatching MONDO:0033614 spastic paraplegia 83, autosomal recessive skos:exactMatch UMLS:C5436637 semapv:UnspecifiedMatching MONDO:0033615 coenzyme q10 deficiency, primary, 9 skos:exactMatch DOID:0112138 primary coenzyme Q10 deficiency 9 semapv:UnspecifiedMatching MONDO:0033615 coenzyme q10 deficiency, primary, 9 skos:exactMatch MEDGEN:1740444 semapv:UnspecifiedMatching MONDO:0033615 coenzyme q10 deficiency, primary, 9 skos:exactMatch OMIM:619028 coenzyme Q10 deficiency, primary, 9 semapv:UnspecifiedMatching MONDO:0033615 coenzyme q10 deficiency, primary, 9 skos:exactMatch UMLS:C5436638 semapv:UnspecifiedMatching MONDO:0033618 Vissers-Bodmer syndrome skos:exactMatch DOID:0081397 Vissers-Bodmer syndrome semapv:UnspecifiedMatching MONDO:0033618 Vissers-Bodmer syndrome skos:exactMatch MEDGEN:1776566 semapv:UnspecifiedMatching MONDO:0033618 Vissers-Bodmer syndrome skos:exactMatch OMIM:619033 vissers-bodmer syndrome semapv:UnspecifiedMatching MONDO:0033618 Vissers-Bodmer syndrome skos:exactMatch UMLS:C5436647 semapv:UnspecifiedMatching MONDO:0033619 myopathy, epilepsy, and progressive cerebral atrophy skos:exactMatch MEDGEN:1759100 semapv:UnspecifiedMatching MONDO:0033619 myopathy, epilepsy, and progressive cerebral atrophy skos:exactMatch OMIM:619036 myopathy, epilepsy, and progressive cerebral atrophy semapv:UnspecifiedMatching MONDO:0033619 myopathy, epilepsy, and progressive cerebral atrophy skos:exactMatch UMLS:C5436652 semapv:UnspecifiedMatching MONDO:0033620 myofibrillar myopathy 10 skos:exactMatch DOID:0112108 myofibrillar myopathy 10 semapv:UnspecifiedMatching MONDO:0033620 myofibrillar myopathy 10 skos:exactMatch MEDGEN:1769385 semapv:UnspecifiedMatching MONDO:0033620 myofibrillar myopathy 10 skos:exactMatch OMIM:619040 myofibrillar myopathy 10 semapv:UnspecifiedMatching MONDO:0033620 myofibrillar myopathy 10 skos:exactMatch UMLS:C5436656 semapv:UnspecifiedMatching MONDO:0033621 spinal muscular atrophy, infantile, James type skos:exactMatch MEDGEN:1764556 semapv:UnspecifiedMatching MONDO:0033621 spinal muscular atrophy, infantile, James type skos:exactMatch OMIM:619042 spinal muscular atrophy, infantile, james type semapv:UnspecifiedMatching MONDO:0033621 spinal muscular atrophy, infantile, James type skos:exactMatch UMLS:C5436669 semapv:UnspecifiedMatching MONDO:0033622 spermatogenic failure 44 skos:exactMatch DOID:0112109 spermatogenic failure 44 semapv:UnspecifiedMatching MONDO:0033622 spermatogenic failure 44 skos:exactMatch MEDGEN:1750188 semapv:UnspecifiedMatching MONDO:0033622 spermatogenic failure 44 skos:exactMatch OMIM:619044 spermatogenic failure 44 semapv:UnspecifiedMatching MONDO:0033622 spermatogenic failure 44 skos:exactMatch UMLS:C5436678 semapv:UnspecifiedMatching MONDO:0033630 neurodevelopmental disorder with speech impairment and dysmorphic facies skos:exactMatch DOID:0070417 neurodevelopmental disorder with speech impairment and dysmorphic facies semapv:UnspecifiedMatching MONDO:0033630 neurodevelopmental disorder with speech impairment and dysmorphic facies skos:exactMatch MEDGEN:1758434 semapv:UnspecifiedMatching MONDO:0033630 neurodevelopmental disorder with speech impairment and dysmorphic facies skos:exactMatch OMIM:619056 neurodevelopmental disorder with speech impairment and dysmorphic facies semapv:UnspecifiedMatching MONDO:0033630 neurodevelopmental disorder with speech impairment and dysmorphic facies skos:exactMatch UMLS:C5436699 semapv:UnspecifiedMatching MONDO:0033631 combined oxidative phosphorylation deficiency 51 skos:exactMatch DOID:0112137 combined oxidative phosphorylation deficiency 51 semapv:UnspecifiedMatching MONDO:0033631 combined oxidative phosphorylation deficiency 51 skos:exactMatch MEDGEN:1757992 semapv:UnspecifiedMatching MONDO:0033631 combined oxidative phosphorylation deficiency 51 skos:exactMatch OMIM:619057 combined oxidative phosphorylation deficiency 51 semapv:UnspecifiedMatching MONDO:0033631 combined oxidative phosphorylation deficiency 51 skos:exactMatch UMLS:C5436703 semapv:UnspecifiedMatching MONDO:0033635 mitochondrial complex IV deficiency, nuclear type 3 skos:exactMatch DOID:0070492 mitochondrial complex IV deficiency nuclear type 3 semapv:UnspecifiedMatching MONDO:0033635 mitochondrial complex IV deficiency, nuclear type 3 skos:exactMatch MEDGEN:1764816 semapv:UnspecifiedMatching MONDO:0033635 mitochondrial complex IV deficiency, nuclear type 3 skos:exactMatch OMIM:619046 mitochondrial complex 4 deficiency, nuclear type 3 semapv:UnspecifiedMatching MONDO:0033635 mitochondrial complex IV deficiency, nuclear type 3 skos:exactMatch UMLS:C5436682 semapv:UnspecifiedMatching MONDO:0033636 mitochondrial complex IV deficiency, nuclear type 4 skos:exactMatch DOID:0070493 mitochondrial complex IV deficiency nuclear type 4 semapv:UnspecifiedMatching MONDO:0033636 mitochondrial complex IV deficiency, nuclear type 4 skos:exactMatch MEDGEN:1748100 semapv:UnspecifiedMatching MONDO:0033636 mitochondrial complex IV deficiency, nuclear type 4 skos:exactMatch OMIM:619048 mitochondrial complex 4 deficiency, nuclear type 4 semapv:UnspecifiedMatching MONDO:0033636 mitochondrial complex IV deficiency, nuclear type 4 skos:exactMatch UMLS:C5436683 semapv:UnspecifiedMatching MONDO:0033637 mitochondrial complex IV deficiency, nuclear type 7 skos:exactMatch DOID:0070494 mitochondrial complex IV deficiency nuclear type 7 semapv:UnspecifiedMatching MONDO:0033637 mitochondrial complex IV deficiency, nuclear type 7 skos:exactMatch MEDGEN:1754683 semapv:UnspecifiedMatching MONDO:0033637 mitochondrial complex IV deficiency, nuclear type 7 skos:exactMatch OMIM:619051 mitochondrial complex 4 deficiency, nuclear type 7 semapv:UnspecifiedMatching MONDO:0033637 mitochondrial complex IV deficiency, nuclear type 7 skos:exactMatch UMLS:C5436685 semapv:UnspecifiedMatching MONDO:0033638 mitochondrial complex IV deficiency, nuclear type 8 skos:exactMatch DOID:0070495 mitochondrial complex IV deficiency nuclear type 8 semapv:UnspecifiedMatching MONDO:0033638 mitochondrial complex IV deficiency, nuclear type 8 skos:exactMatch MEDGEN:1765544 semapv:UnspecifiedMatching MONDO:0033638 mitochondrial complex IV deficiency, nuclear type 8 skos:exactMatch OMIM:619052 mitochondrial complex 4 deficiency, nuclear type 8 semapv:UnspecifiedMatching MONDO:0033638 mitochondrial complex IV deficiency, nuclear type 8 skos:exactMatch UMLS:C5436689 semapv:UnspecifiedMatching MONDO:0033639 mitochondrial complex IV deficiency, nuclear type 10 skos:exactMatch DOID:0070496 mitochondrial complex IV deficiency nuclear type 10 semapv:UnspecifiedMatching MONDO:0033639 mitochondrial complex IV deficiency, nuclear type 10 skos:exactMatch MEDGEN:1746545 semapv:UnspecifiedMatching MONDO:0033639 mitochondrial complex IV deficiency, nuclear type 10 skos:exactMatch OMIM:619053 mitochondrial complex 4 deficiency, nuclear type 10 semapv:UnspecifiedMatching MONDO:0033639 mitochondrial complex IV deficiency, nuclear type 10 skos:exactMatch UMLS:C5436692 semapv:UnspecifiedMatching MONDO:0033640 vitamin D-dependent rickets, type 3 skos:exactMatch MEDGEN:1725534 semapv:UnspecifiedMatching MONDO:0033640 vitamin D-dependent rickets, type 3 skos:exactMatch OMIM:619073 vitamin d-dependent rickets, type 3 semapv:UnspecifiedMatching MONDO:0033640 vitamin D-dependent rickets, type 3 skos:exactMatch UMLS:C5436733 semapv:UnspecifiedMatching MONDO:0033641 cleft palate, proliferative retinopathy, and developmental delay skos:exactMatch MEDGEN:1765503 semapv:UnspecifiedMatching MONDO:0033641 cleft palate, proliferative retinopathy, and developmental delay skos:exactMatch OMIM:619074 cleft palate, proliferative retinopathy, and developmental delay semapv:UnspecifiedMatching MONDO:0033641 cleft palate, proliferative retinopathy, and developmental delay skos:exactMatch UMLS:C5436739 semapv:UnspecifiedMatching MONDO:0033642 neurodevelopmental disorder with alopecia and brain abnormalities skos:exactMatch MEDGEN:1775930 semapv:UnspecifiedMatching MONDO:0033642 neurodevelopmental disorder with alopecia and brain abnormalities skos:exactMatch OMIM:619075 bachmann-bupp syndrome semapv:UnspecifiedMatching MONDO:0033642 neurodevelopmental disorder with alopecia and brain abnormalities skos:exactMatch Orphanet:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome semapv:UnspecifiedMatching MONDO:0033642 neurodevelopmental disorder with alopecia and brain abnormalities skos:exactMatch UMLS:C5436741 semapv:UnspecifiedMatching MONDO:0033643 inflammatory bowel disease 30 skos:exactMatch DOID:0112154 inflammatory bowel disease 30 semapv:UnspecifiedMatching MONDO:0033643 inflammatory bowel disease 30 skos:exactMatch MEDGEN:1737985 semapv:UnspecifiedMatching MONDO:0033643 inflammatory bowel disease 30 skos:exactMatch OMIM:619079 inflammatory bowel disease (crohn disease) 30 semapv:UnspecifiedMatching MONDO:0033643 inflammatory bowel disease 30 skos:exactMatch UMLS:C5436750 semapv:UnspecifiedMatching MONDO:0033644 microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1 skos:exactMatch MEDGEN:1755099 semapv:UnspecifiedMatching MONDO:0033644 microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1 skos:exactMatch OMIM:619082 microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1 semapv:UnspecifiedMatching MONDO:0033644 microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1 skos:exactMatch UMLS:C5436769 semapv:UnspecifiedMatching MONDO:0033645 mitochondrial complex IV deficiency, nuclear type 11 skos:exactMatch DOID:0070497 mitochondrial complex IV deficiency nuclear type 11 semapv:UnspecifiedMatching MONDO:0033645 mitochondrial complex IV deficiency, nuclear type 11 skos:exactMatch MEDGEN:1760275 semapv:UnspecifiedMatching MONDO:0033645 mitochondrial complex IV deficiency, nuclear type 11 skos:exactMatch OMIM:619054 mitochondrial complex 4 deficiency, nuclear type 11 semapv:UnspecifiedMatching MONDO:0033645 mitochondrial complex IV deficiency, nuclear type 11 skos:exactMatch UMLS:C5436694 semapv:UnspecifiedMatching MONDO:0033646 mitochondrial complex IV deficiency, nuclear type 12 skos:exactMatch DOID:0070498 mitochondrial complex IV deficiency nuclear type 12 semapv:UnspecifiedMatching MONDO:0033646 mitochondrial complex IV deficiency, nuclear type 12 skos:exactMatch MEDGEN:1745691 semapv:UnspecifiedMatching MONDO:0033646 mitochondrial complex IV deficiency, nuclear type 12 skos:exactMatch OMIM:619055 mitochondrial complex 4 deficiency, nuclear type 12 semapv:UnspecifiedMatching MONDO:0033646 mitochondrial complex IV deficiency, nuclear type 12 skos:exactMatch UMLS:C5436695 semapv:UnspecifiedMatching MONDO:0033649 mitochondrial complex IV deficiency, nuclear type 14 skos:exactMatch DOID:0070499 mitochondrial complex IV deficiency nuclear type 14 semapv:UnspecifiedMatching MONDO:0033649 mitochondrial complex IV deficiency, nuclear type 14 skos:exactMatch MEDGEN:1763505 semapv:UnspecifiedMatching MONDO:0033649 mitochondrial complex IV deficiency, nuclear type 14 skos:exactMatch OMIM:619058 mitochondrial complex 4 deficiency, nuclear type 14 semapv:UnspecifiedMatching MONDO:0033649 mitochondrial complex IV deficiency, nuclear type 14 skos:exactMatch UMLS:C5436710 semapv:UnspecifiedMatching MONDO:0033650 mitochondrial complex IV deficiency, nuclear type 15 skos:exactMatch DOID:0070500 mitochondrial complex IV deficiency nuclear type 15 semapv:UnspecifiedMatching MONDO:0033650 mitochondrial complex IV deficiency, nuclear type 15 skos:exactMatch MEDGEN:1773430 semapv:UnspecifiedMatching MONDO:0033650 mitochondrial complex IV deficiency, nuclear type 15 skos:exactMatch OMIM:619059 mitochondrial complex 4 deficiency, nuclear type 15 semapv:UnspecifiedMatching MONDO:0033650 mitochondrial complex IV deficiency, nuclear type 15 skos:exactMatch UMLS:C5436712 semapv:UnspecifiedMatching MONDO:0033651 mitochondrial complex IV deficiency, nuclear type 16 skos:exactMatch DOID:0070501 mitochondrial complex IV deficiency nuclear type 16 semapv:UnspecifiedMatching MONDO:0033651 mitochondrial complex IV deficiency, nuclear type 16 skos:exactMatch MEDGEN:1762514 semapv:UnspecifiedMatching MONDO:0033651 mitochondrial complex IV deficiency, nuclear type 16 skos:exactMatch OMIM:619060 mitochondrial complex 4 deficiency, nuclear type 16 semapv:UnspecifiedMatching MONDO:0033651 mitochondrial complex IV deficiency, nuclear type 16 skos:exactMatch UMLS:C5436714 semapv:UnspecifiedMatching MONDO:0033652 mitochondrial complex IV deficiency, nuclear type 17 skos:exactMatch DOID:0070502 mitochondrial complex IV deficiency nuclear type 17 semapv:UnspecifiedMatching MONDO:0033652 mitochondrial complex IV deficiency, nuclear type 17 skos:exactMatch MEDGEN:1730423 semapv:UnspecifiedMatching MONDO:0033652 mitochondrial complex IV deficiency, nuclear type 17 skos:exactMatch OMIM:619061 mitochondrial complex 4 deficiency, nuclear type 17 semapv:UnspecifiedMatching MONDO:0033652 mitochondrial complex IV deficiency, nuclear type 17 skos:exactMatch UMLS:C5436718 semapv:UnspecifiedMatching MONDO:0033653 mitochondrial complex IV deficiency, nuclear type 18 skos:exactMatch DOID:0070503 mitochondrial complex IV deficiency nuclear type 18 semapv:UnspecifiedMatching MONDO:0033653 mitochondrial complex IV deficiency, nuclear type 18 skos:exactMatch MEDGEN:1752734 semapv:UnspecifiedMatching MONDO:0033653 mitochondrial complex IV deficiency, nuclear type 18 skos:exactMatch OMIM:619062 mitochondrial complex 4 deficiency, nuclear type 18 semapv:UnspecifiedMatching MONDO:0033653 mitochondrial complex IV deficiency, nuclear type 18 skos:exactMatch UMLS:C5436720 semapv:UnspecifiedMatching MONDO:0033654 mitochondrial complex IV deficiency, nuclear type 19 skos:exactMatch DOID:0070504 mitochondrial complex IV deficiency nuclear type 19 semapv:UnspecifiedMatching MONDO:0033654 mitochondrial complex IV deficiency, nuclear type 19 skos:exactMatch MEDGEN:1729504 semapv:UnspecifiedMatching MONDO:0033654 mitochondrial complex IV deficiency, nuclear type 19 skos:exactMatch OMIM:619063 mitochondrial complex 4 deficiency, nuclear type 19 semapv:UnspecifiedMatching MONDO:0033654 mitochondrial complex IV deficiency, nuclear type 19 skos:exactMatch UMLS:C5436723 semapv:UnspecifiedMatching MONDO:0033655 mitochondrial complex IV deficiency, nuclear type 20 skos:exactMatch DOID:0070505 mitochondrial complex IV deficiency nuclear type 20 semapv:UnspecifiedMatching MONDO:0033655 mitochondrial complex IV deficiency, nuclear type 20 skos:exactMatch MEDGEN:1771040 semapv:UnspecifiedMatching MONDO:0033655 mitochondrial complex IV deficiency, nuclear type 20 skos:exactMatch OMIM:619064 mitochondrial complex 4 deficiency, nuclear type 20 semapv:UnspecifiedMatching MONDO:0033655 mitochondrial complex IV deficiency, nuclear type 20 skos:exactMatch UMLS:C5436726 semapv:UnspecifiedMatching MONDO:0033656 mitochondrial complex IV deficiency, nuclear type 21 skos:exactMatch DOID:0070506 mitochondrial complex IV deficiency nuclear type 21 semapv:UnspecifiedMatching MONDO:0033656 mitochondrial complex IV deficiency, nuclear type 21 skos:exactMatch MEDGEN:1732562 semapv:UnspecifiedMatching MONDO:0033656 mitochondrial complex IV deficiency, nuclear type 21 skos:exactMatch OMIM:619065 mitochondrial complex 4 deficiency, nuclear type 21 semapv:UnspecifiedMatching MONDO:0033656 mitochondrial complex IV deficiency, nuclear type 21 skos:exactMatch UMLS:C5436727 semapv:UnspecifiedMatching MONDO:0033657 leukodystrophy, hypomyelinating, 20 skos:exactMatch DOID:0112153 hypomyelinating leukodystrophy 20 semapv:UnspecifiedMatching MONDO:0033657 leukodystrophy, hypomyelinating, 20 skos:exactMatch MEDGEN:1765130 semapv:UnspecifiedMatching MONDO:0033657 leukodystrophy, hypomyelinating, 20 skos:exactMatch OMIM:619071 leukodystrophy, hypomyelinating, 20 semapv:UnspecifiedMatching MONDO:0033657 leukodystrophy, hypomyelinating, 20 skos:exactMatch UMLS:C5436730 semapv:UnspecifiedMatching MONDO:0033658 neurodevelopmental disorder with seizures and brain atrophy skos:exactMatch MEDGEN:1748227 semapv:UnspecifiedMatching MONDO:0033658 neurodevelopmental disorder with seizures and brain atrophy skos:exactMatch OMIM:619072 neurodevelopmental disorder with seizures and brain atrophy semapv:UnspecifiedMatching MONDO:0033658 neurodevelopmental disorder with seizures and brain atrophy skos:exactMatch UMLS:C5436732 semapv:UnspecifiedMatching MONDO:0033662 neurodevelopmental disorder with microcephaly, seizures, and brain atrophy skos:exactMatch MEDGEN:1755716 semapv:UnspecifiedMatching MONDO:0033662 neurodevelopmental disorder with microcephaly, seizures, and brain atrophy skos:exactMatch OMIM:619076 neurodevelopmental disorder with microcephaly, seizures, and brain atrophy semapv:UnspecifiedMatching MONDO:0033662 neurodevelopmental disorder with microcephaly, seizures, and brain atrophy skos:exactMatch UMLS:C5436747 semapv:UnspecifiedMatching MONDO:0033664 Kilquist syndrome skos:exactMatch MEDGEN:1742639 semapv:UnspecifiedMatching MONDO:0033664 Kilquist syndrome skos:exactMatch OMIM:619080 kilquist syndrome semapv:UnspecifiedMatching MONDO:0033664 Kilquist syndrome skos:exactMatch Orphanet:633021 SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome semapv:UnspecifiedMatching MONDO:0033664 Kilquist syndrome skos:exactMatch UMLS:C5436756 semapv:UnspecifiedMatching MONDO:0033665 hearing loss, autosomal dominant 78 skos:exactMatch DOID:0112159 autosomal dominant nonsyndromic deafness 78 semapv:UnspecifiedMatching MONDO:0033665 hearing loss, autosomal dominant 78 skos:exactMatch MEDGEN:1777362 semapv:UnspecifiedMatching MONDO:0033665 hearing loss, autosomal dominant 78 skos:exactMatch OMIM:619081 deafness, autosomal dominant 78 semapv:UnspecifiedMatching MONDO:0033665 hearing loss, autosomal dominant 78 skos:exactMatch UMLS:C5436768 semapv:UnspecifiedMatching MONDO:0033667 Delpire-McNeill syndrome skos:exactMatch MEDGEN:1725056 semapv:UnspecifiedMatching MONDO:0033667 Delpire-McNeill syndrome skos:exactMatch OMIM:619083 delpire-mcneill syndrome semapv:UnspecifiedMatching MONDO:0033667 Delpire-McNeill syndrome skos:exactMatch Orphanet:633024 SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome semapv:UnspecifiedMatching MONDO:0033667 Delpire-McNeill syndrome skos:exactMatch UMLS:C5436771 semapv:UnspecifiedMatching MONDO:0033668 hearing loss, autosomal dominant 79 skos:exactMatch DOID:0112160 autosomal dominant nonsyndromic deafness 79 semapv:UnspecifiedMatching MONDO:0033668 hearing loss, autosomal dominant 79 skos:exactMatch MEDGEN:1735338 semapv:UnspecifiedMatching MONDO:0033668 hearing loss, autosomal dominant 79 skos:exactMatch OMIM:619086 deafness, autosomal dominant 79 semapv:UnspecifiedMatching MONDO:0033668 hearing loss, autosomal dominant 79 skos:exactMatch UMLS:C5436772 semapv:UnspecifiedMatching MONDO:0033669 Noonan syndrome 13 skos:exactMatch DOID:0112161 Noonan syndrome 13 semapv:UnspecifiedMatching MONDO:0033669 Noonan syndrome 13 skos:exactMatch MEDGEN:1761918 semapv:UnspecifiedMatching MONDO:0033669 Noonan syndrome 13 skos:exactMatch NCIT:C177121 Noonan Syndrome 13 semapv:UnspecifiedMatching MONDO:0033669 Noonan syndrome 13 skos:exactMatch OMIM:619087 noonan syndrome 13 semapv:UnspecifiedMatching MONDO:0033669 Noonan syndrome 13 skos:exactMatch UMLS:C5436773 semapv:UnspecifiedMatching MONDO:0033670 hearing loss, autosomal recessive 116 skos:exactMatch DOID:0112162 autosomal recessive nonsyndromic deafness 116 semapv:UnspecifiedMatching MONDO:0033670 hearing loss, autosomal recessive 116 skos:exactMatch MEDGEN:1726617 semapv:UnspecifiedMatching MONDO:0033670 hearing loss, autosomal recessive 116 skos:exactMatch OMIM:619093 deafness, autosomal recessive 116 semapv:UnspecifiedMatching MONDO:0033670 hearing loss, autosomal recessive 116 skos:exactMatch UMLS:C5436789 semapv:UnspecifiedMatching MONDO:0033671 spermatogenic failure 45 skos:exactMatch DOID:0112163 spermatogenic failure 45 semapv:UnspecifiedMatching MONDO:0033671 spermatogenic failure 45 skos:exactMatch MEDGEN:1776221 semapv:UnspecifiedMatching MONDO:0033671 spermatogenic failure 45 skos:exactMatch OMIM:619094 spermatogenic failure 45 semapv:UnspecifiedMatching MONDO:0033671 spermatogenic failure 45 skos:exactMatch UMLS:C5436791 semapv:UnspecifiedMatching MONDO:0033673 spermatogenic failure 46 skos:exactMatch DOID:0112164 spermatogenic failure 46 semapv:UnspecifiedMatching MONDO:0033673 spermatogenic failure 46 skos:exactMatch MEDGEN:1726728 semapv:UnspecifiedMatching MONDO:0033673 spermatogenic failure 46 skos:exactMatch OMIM:619095 spermatogenic failure 46 semapv:UnspecifiedMatching MONDO:0033673 spermatogenic failure 46 skos:exactMatch UMLS:C5436799 semapv:UnspecifiedMatching MONDO:0033682 skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome skos:exactMatch MEDGEN:1799322 semapv:UnspecifiedMatching MONDO:0033682 skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome skos:exactMatch Orphanet:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome semapv:UnspecifiedMatching MONDO:0033682 skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome skos:exactMatch UMLS:C5567899 semapv:UnspecifiedMatching MONDO:0033683 congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome skos:exactMatch MEDGEN:1799320 semapv:UnspecifiedMatching MONDO:0033683 congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome skos:exactMatch Orphanet:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome semapv:UnspecifiedMatching MONDO:0033683 congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome skos:exactMatch UMLS:C5567897 semapv:UnspecifiedMatching MONDO:0033717 congenital cerebellar ataxia due to RNU12 mutation skos:exactMatch MEDGEN:1799317 semapv:UnspecifiedMatching MONDO:0033717 congenital cerebellar ataxia due to RNU12 mutation skos:exactMatch Orphanet:512260 Congenital cerebellar ataxia due to RNU12 mutation semapv:UnspecifiedMatching MONDO:0033717 congenital cerebellar ataxia due to RNU12 mutation skos:exactMatch UMLS:C5567894 semapv:UnspecifiedMatching MONDO:0033809 isolated blepharochalasis skos:exactMatch MEDGEN:1801812 semapv:UnspecifiedMatching MONDO:0033809 isolated blepharochalasis skos:exactMatch Orphanet:519390 Isolated blepharochalasis semapv:UnspecifiedMatching MONDO:0033809 isolated blepharochalasis skos:exactMatch UMLS:C5681341 semapv:UnspecifiedMatching MONDO:0033810 isolated iridoschisis skos:exactMatch MEDGEN:509720 semapv:UnspecifiedMatching MONDO:0033810 isolated iridoschisis skos:exactMatch Orphanet:519392 Isolated iridoschisis semapv:UnspecifiedMatching MONDO:0033810 isolated iridoschisis skos:exactMatch UMLS:C0154919 semapv:UnspecifiedMatching MONDO:0033810 isolated iridoschisis skos:exactMatch icd11.foundation:1870961422 Iridoschisis semapv:UnspecifiedMatching MONDO:0033816 thygeson superficial punctate keratopathy skos:exactMatch MEDGEN:1638070 semapv:UnspecifiedMatching MONDO:0033816 thygeson superficial punctate keratopathy skos:exactMatch Orphanet:519406 Thygeson superficial punctate keratitis semapv:UnspecifiedMatching MONDO:0033816 thygeson superficial punctate keratopathy skos:exactMatch UMLS:C4551636 semapv:UnspecifiedMatching MONDO:0033818 Terrien marginal degeneration skos:exactMatch MEDGEN:543256 semapv:UnspecifiedMatching MONDO:0033818 Terrien marginal degeneration skos:exactMatch Orphanet:519410 Terrien marginal degeneration semapv:UnspecifiedMatching MONDO:0033818 Terrien marginal degeneration skos:exactMatch UMLS:C0271283 semapv:UnspecifiedMatching MONDO:0033821 fungal keratitis skos:exactMatch MEDGEN:687913 semapv:UnspecifiedMatching MONDO:0033821 fungal keratitis skos:exactMatch NCIT:C128370 Fungal Keratitis semapv:UnspecifiedMatching MONDO:0033821 fungal keratitis skos:exactMatch Orphanet:519930 Fungal keratitis semapv:UnspecifiedMatching MONDO:0033821 fungal keratitis skos:exactMatch UMLS:C1262117 semapv:UnspecifiedMatching MONDO:0033821 fungal keratitis skos:exactMatch icd11.foundation:712798367 Fungal keratitis semapv:UnspecifiedMatching MONDO:0033838 radiation-induced plexopathy skos:exactMatch MEDGEN:1809151 semapv:UnspecifiedMatching MONDO:0033838 radiation-induced plexopathy skos:exactMatch Orphanet:521123 Radiation-induced plexopathy semapv:UnspecifiedMatching MONDO:0033838 radiation-induced plexopathy skos:exactMatch UMLS:C5681446 semapv:UnspecifiedMatching MONDO:0033839 osteoradionecrosis of the mandible skos:exactMatch MEDGEN:713081 semapv:UnspecifiedMatching MONDO:0033839 osteoradionecrosis of the mandible skos:exactMatch Orphanet:521127 Osteoradionecrosis of the mandible semapv:UnspecifiedMatching MONDO:0033839 osteoradionecrosis of the mandible skos:exactMatch UMLS:C1290728 semapv:UnspecifiedMatching MONDO:0033839 osteoradionecrosis of the mandible skos:exactMatch icd11.foundation:677862301 Osteoradionecrosis of the mandible semapv:UnspecifiedMatching MONDO:0033850 autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect skos:exactMatch MEDGEN:1800474 semapv:UnspecifiedMatching MONDO:0033850 autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect skos:exactMatch Orphanet:521411 Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect semapv:UnspecifiedMatching MONDO:0033850 autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect skos:exactMatch UMLS:C5569051 semapv:UnspecifiedMatching MONDO:0033853 congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome skos:exactMatch MEDGEN:1814478 semapv:UnspecifiedMatching MONDO:0033853 congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome skos:exactMatch Orphanet:521432 Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome semapv:UnspecifiedMatching MONDO:0033853 congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome skos:exactMatch UMLS:C5681444 semapv:UnspecifiedMatching MONDO:0033856 LAMA5-related multisystemic syndrome skos:exactMatch MEDGEN:1806009 semapv:UnspecifiedMatching MONDO:0033856 LAMA5-related multisystemic syndrome skos:exactMatch Orphanet:521450 LAMA5-related multisystemic syndrome semapv:UnspecifiedMatching MONDO:0033856 LAMA5-related multisystemic syndrome skos:exactMatch UMLS:C5681442 semapv:UnspecifiedMatching MONDO:0033862 primary autoimmune enteropathy skos:exactMatch MEDGEN:1842843 semapv:UnspecifiedMatching MONDO:0033862 primary autoimmune enteropathy skos:exactMatch Orphanet:522037 Primary autoimmune enteropathy semapv:UnspecifiedMatching MONDO:0033862 primary autoimmune enteropathy skos:exactMatch UMLS:C5681441 semapv:UnspecifiedMatching MONDO:0033864 infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome skos:exactMatch MEDGEN:1648431 semapv:UnspecifiedMatching MONDO:0033864 infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome skos:exactMatch OMIM:618218 baker-gordon syndrome semapv:UnspecifiedMatching MONDO:0033864 infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome skos:exactMatch Orphanet:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome semapv:UnspecifiedMatching MONDO:0033864 infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome skos:exactMatch UMLS:C4748715 semapv:UnspecifiedMatching MONDO:0033885 mitochondrial complex IV deficiency, nuclear-type skos:exactMatch DOID:3762 cytochrome-c oxidase deficiency disease semapv:UnspecifiedMatching MONDO:0033885 mitochondrial complex IV deficiency, nuclear-type skos:exactMatch MEDGEN:1830397 semapv:UnspecifiedMatching MONDO:0033885 mitochondrial complex IV deficiency, nuclear-type skos:exactMatch NCIT:C98910 Cytochrome-C Oxidase Deficiency semapv:UnspecifiedMatching MONDO:0033885 mitochondrial complex IV deficiency, nuclear-type skos:exactMatch OMIMPS:220110 Mitochondrial complex IV deficiency, nuclear-type semapv:UnspecifiedMatching MONDO:0033885 mitochondrial complex IV deficiency, nuclear-type skos:exactMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:UnspecifiedMatching MONDO:0033885 mitochondrial complex IV deficiency, nuclear-type skos:exactMatch SCTID:67434000 semapv:UnspecifiedMatching MONDO:0033885 mitochondrial complex IV deficiency, nuclear-type skos:exactMatch UMLS:C5779825 semapv:UnspecifiedMatching MONDO:0033885 mitochondrial complex IV deficiency, nuclear-type skos:exactMatch mesh:D030401 semapv:UnspecifiedMatching MONDO:0033925 pediatric-onset Graves disease skos:exactMatch MEDGEN:1842979 semapv:UnspecifiedMatching MONDO:0033925 pediatric-onset Graves disease skos:exactMatch Orphanet:525731 Pediatric-onset Graves disease semapv:UnspecifiedMatching MONDO:0033925 pediatric-onset Graves disease skos:exactMatch UMLS:C5680179 semapv:UnspecifiedMatching MONDO:0033926 prepubertal anorexia nervosa skos:exactMatch MEDGEN:1799990 semapv:UnspecifiedMatching MONDO:0033926 prepubertal anorexia nervosa skos:exactMatch Orphanet:525738 Prepubertal anorexia nervosa semapv:UnspecifiedMatching MONDO:0033926 prepubertal anorexia nervosa skos:exactMatch UMLS:C5568567 semapv:UnspecifiedMatching MONDO:0033927 obsolete genetic complex vascular malformation with associated anomalies skos:exactMatch Orphanet:459537 Genetic complex vascular malformation with associated anomalies semapv:UnspecifiedMatching MONDO:0033938 acute radiation syndrome skos:exactMatch Orphanet:454831 Acute radiation syndrome semapv:UnspecifiedMatching MONDO:0033938 acute radiation syndrome skos:exactMatch mesh:D054508 semapv:UnspecifiedMatching MONDO:0033946 hereditary angioedema with C1Inh deficiency skos:exactMatch DOID:0080939 hereditary angioedema type I semapv:UnspecifiedMatching MONDO:0033946 hereditary angioedema with C1Inh deficiency skos:exactMatch MEDGEN:1812520 semapv:UnspecifiedMatching MONDO:0033946 hereditary angioedema with C1Inh deficiency skos:exactMatch OMIM:106100 angioedema, hereditary, 1 semapv:UnspecifiedMatching MONDO:0033946 hereditary angioedema with C1Inh deficiency skos:exactMatch Orphanet:528623 Hereditary angioedema with C1Inh deficiency semapv:UnspecifiedMatching MONDO:0033946 hereditary angioedema with C1Inh deficiency skos:exactMatch UMLS:C4552294 semapv:UnspecifiedMatching MONDO:0033948 acquired angioedema with C1Inh deficiency skos:exactMatch MEDGEN:1846342 semapv:UnspecifiedMatching MONDO:0033948 acquired angioedema with C1Inh deficiency skos:exactMatch Orphanet:528663 Acquired angioedema with C1Inh deficiency semapv:UnspecifiedMatching MONDO:0033948 acquired angioedema with C1Inh deficiency skos:exactMatch UMLS:C5848086 semapv:UnspecifiedMatching MONDO:0033954 monoclonal mast cell activation syndrome skos:exactMatch ICD10CM:D89.41 Monoclonal mast cell activation syndrome semapv:UnspecifiedMatching MONDO:0033954 monoclonal mast cell activation syndrome skos:exactMatch MEDGEN:1672509 semapv:UnspecifiedMatching MONDO:0033954 monoclonal mast cell activation syndrome skos:exactMatch NCIT:C181652 Monoclonal Mast Cell Activation Syndrome semapv:UnspecifiedMatching MONDO:0033954 monoclonal mast cell activation syndrome skos:exactMatch Orphanet:529468 Monoclonal mast cell activation syndrome semapv:UnspecifiedMatching MONDO:0033954 monoclonal mast cell activation syndrome skos:exactMatch UMLS:C4267893 semapv:UnspecifiedMatching MONDO:0033967 obsolete immune dysregulation with inflammatory bowel disease skos:exactMatch Orphanet:529974 Immune dysregulation with inflammatory bowel disease semapv:UnspecifiedMatching MONDO:0033968 immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome skos:exactMatch MEDGEN:1799956 semapv:UnspecifiedMatching MONDO:0033968 immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome skos:exactMatch Orphanet:529977 Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome semapv:UnspecifiedMatching MONDO:0033968 immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome skos:exactMatch UMLS:C5568533 semapv:UnspecifiedMatching MONDO:0033969 inflammatory bowel disease-recurrent sinopulmonary infections syndrome skos:exactMatch MEDGEN:1799955 semapv:UnspecifiedMatching MONDO:0033969 inflammatory bowel disease-recurrent sinopulmonary infections syndrome skos:exactMatch Orphanet:529980 Inflammatory bowel disease-recurrent sinopulmonary infections syndrome semapv:UnspecifiedMatching MONDO:0033969 inflammatory bowel disease-recurrent sinopulmonary infections syndrome skos:exactMatch UMLS:C5568532 semapv:UnspecifiedMatching MONDO:0033980 RELA fusion-positive ependymoma skos:exactMatch DOID:0080892 RELA fusion-positive ependymoma semapv:UnspecifiedMatching MONDO:0033980 RELA fusion-positive ependymoma skos:exactMatch MEDGEN:927113 semapv:UnspecifiedMatching MONDO:0033980 RELA fusion-positive ependymoma skos:exactMatch NCIT:C129351 Supratentorial Ependymoma, ZFTA-RELA Fusion-Positive semapv:UnspecifiedMatching MONDO:0033980 RELA fusion-positive ependymoma skos:exactMatch Orphanet:530792 RELA fusion-positive ependymoma semapv:UnspecifiedMatching MONDO:0033980 RELA fusion-positive ependymoma skos:exactMatch UMLS:C4289581 semapv:UnspecifiedMatching MONDO:0034021 spondylodysplastic Ehlers-Danlos syndrome skos:exactMatch MEDGEN:1814455 semapv:UnspecifiedMatching MONDO:0034021 spondylodysplastic Ehlers-Danlos syndrome skos:exactMatch Orphanet:536471 Spondylodysplastic Ehlers-Danlos syndrome semapv:UnspecifiedMatching MONDO:0034021 spondylodysplastic Ehlers-Danlos syndrome skos:exactMatch UMLS:C5680154 semapv:UnspecifiedMatching MONDO:0034022 Bethlem myopathy 2 skos:exactMatch DOID:0061201 Bethlem myopathy 2 semapv:UnspecifiedMatching MONDO:0034022 Bethlem myopathy 2 skos:exactMatch MEDGEN:907426 semapv:UnspecifiedMatching MONDO:0034022 Bethlem myopathy 2 skos:exactMatch OMIM:616471 bethlem myopathy 2 semapv:UnspecifiedMatching MONDO:0034022 Bethlem myopathy 2 skos:exactMatch Orphanet:536516 Myopathic Ehlers-Danlos syndrome semapv:UnspecifiedMatching MONDO:0034022 Bethlem myopathy 2 skos:exactMatch UMLS:C4225313 semapv:UnspecifiedMatching MONDO:0034024 obsolete kyphoscoliotic Ehlers-Danlos syndrome skos:exactMatch Orphanet:536545 Kyphoscoliotic Ehlers-Danlos syndrome semapv:UnspecifiedMatching MONDO:0034028 obsolete symptomatic form of hemochromatosis type 1 skos:exactMatch Orphanet:465508 Symptomatic form of HFE-related hemochromatosis semapv:UnspecifiedMatching MONDO:0034039 obsolete genetic hemoglobinopathy skos:exactMatch Orphanet:466066 Genetic hemoglobinopathy semapv:UnspecifiedMatching MONDO:0034041 congenital axonal neuropathy with encephalopathy skos:exactMatch MEDGEN:1814475 semapv:UnspecifiedMatching MONDO:0034041 congenital axonal neuropathy with encephalopathy skos:exactMatch Orphanet:538101 Congenital axonal neuropathy with encephalopathy semapv:UnspecifiedMatching MONDO:0034041 congenital axonal neuropathy with encephalopathy skos:exactMatch UMLS:C5681314 semapv:UnspecifiedMatching MONDO:0034054 severe combined immunodeficiency due to CD70 deficiency skos:exactMatch MEDGEN:1799982 semapv:UnspecifiedMatching MONDO:0034054 severe combined immunodeficiency due to CD70 deficiency skos:exactMatch OMIM:618261 lymphoproliferative syndrome 3 semapv:UnspecifiedMatching MONDO:0034054 severe combined immunodeficiency due to CD70 deficiency skos:exactMatch Orphanet:538958 Combined immunodeficiency due to CD70 deficiency semapv:UnspecifiedMatching MONDO:0034054 severe combined immunodeficiency due to CD70 deficiency skos:exactMatch UMLS:C5568559 semapv:UnspecifiedMatching MONDO:0034092 optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome skos:exactMatch MEDGEN:1807322 semapv:UnspecifiedMatching MONDO:0034092 optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome skos:exactMatch Orphanet:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome semapv:UnspecifiedMatching MONDO:0034092 optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome skos:exactMatch UMLS:C5681321 semapv:UnspecifiedMatching MONDO:0034103 infection-related hemolytic uremic syndrome skos:exactMatch MEDGEN:1826072 semapv:UnspecifiedMatching MONDO:0034103 infection-related hemolytic uremic syndrome skos:exactMatch Orphanet:544482 Infection-related hemolytic uremic syndrome semapv:UnspecifiedMatching MONDO:0034103 infection-related hemolytic uremic syndrome skos:exactMatch UMLS:C5680165 semapv:UnspecifiedMatching MONDO:0034106 developmental and epileptic encephalopathy, 73 skos:exactMatch DOID:0112209 developmental and epileptic encephalopathy 73 semapv:UnspecifiedMatching MONDO:0034106 developmental and epileptic encephalopathy, 73 skos:exactMatch MEDGEN:1681654 semapv:UnspecifiedMatching MONDO:0034106 developmental and epileptic encephalopathy, 73 skos:exactMatch OMIM:618379 developmental and epileptic encephalopathy 73 semapv:UnspecifiedMatching MONDO:0034106 developmental and epileptic encephalopathy, 73 skos:exactMatch Orphanet:544503 RNF13-related severe early-onset epileptic encephalopathy semapv:UnspecifiedMatching MONDO:0034106 developmental and epileptic encephalopathy, 73 skos:exactMatch UMLS:C5193065 semapv:UnspecifiedMatching MONDO:0034109 congenital myopathy with reduced type 2 muscle fibers skos:exactMatch DOID:0081346 congenital myopathy 14 semapv:UnspecifiedMatching MONDO:0034109 congenital myopathy with reduced type 2 muscle fibers skos:exactMatch MEDGEN:1672638 semapv:UnspecifiedMatching MONDO:0034109 congenital myopathy with reduced type 2 muscle fibers skos:exactMatch OMIM:618414 congenital myopathy 14 semapv:UnspecifiedMatching MONDO:0034109 congenital myopathy with reduced type 2 muscle fibers skos:exactMatch Orphanet:544602 Congenital myopathy with reduced type 2 muscle fibers semapv:UnspecifiedMatching MONDO:0034109 congenital myopathy with reduced type 2 muscle fibers skos:exactMatch UMLS:C5193081 semapv:UnspecifiedMatching MONDO:0034110 atypical Fanconi syndrome-neonatal hyperinsulinism syndrome skos:exactMatch MEDGEN:1830116 semapv:UnspecifiedMatching MONDO:0034110 atypical Fanconi syndrome-neonatal hyperinsulinism syndrome skos:exactMatch Orphanet:544628 Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome semapv:UnspecifiedMatching MONDO:0034110 atypical Fanconi syndrome-neonatal hyperinsulinism syndrome skos:exactMatch UMLS:C5681324 semapv:UnspecifiedMatching MONDO:0034121 NAD(P)HX dehydratase deficiency skos:exactMatch MEDGEN:1681210 semapv:UnspecifiedMatching MONDO:0034121 NAD(P)HX dehydratase deficiency skos:exactMatch OMIM:618321 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 semapv:UnspecifiedMatching MONDO:0034121 NAD(P)HX dehydratase deficiency skos:exactMatch Orphanet:555402 NAD(P)HX dehydratase deficiency semapv:UnspecifiedMatching MONDO:0034121 NAD(P)HX dehydratase deficiency skos:exactMatch UMLS:C5193026 semapv:UnspecifiedMatching MONDO:0034127 IgA pemphigus skos:exactMatch DOID:0080851 IgA pemphigus semapv:UnspecifiedMatching MONDO:0034127 IgA pemphigus skos:exactMatch MEDGEN:697519 semapv:UnspecifiedMatching MONDO:0034127 IgA pemphigus skos:exactMatch Orphanet:555905 IgA pemphigus semapv:UnspecifiedMatching MONDO:0034127 IgA pemphigus skos:exactMatch UMLS:C1274167 semapv:UnspecifiedMatching MONDO:0034142 pancreatic agenesis-holoprosencephaly syndrome skos:exactMatch MEDGEN:1808942 semapv:UnspecifiedMatching MONDO:0034142 pancreatic agenesis-holoprosencephaly syndrome skos:exactMatch Orphanet:556955 Pancreatic agenesis-holoprosencephaly syndrome semapv:UnspecifiedMatching MONDO:0034142 pancreatic agenesis-holoprosencephaly syndrome skos:exactMatch UMLS:C5681334 semapv:UnspecifiedMatching MONDO:0034143 early-onset calcifying leukoencephalopathy-skeletal dysplasia skos:exactMatch Orphanet:556985 Early-onset calcifying leukoencephalopathy-skeletal dysplasia semapv:UnspecifiedMatching MONDO:0034145 oculocerebrodental syndrome skos:exactMatch MEDGEN:1674537 semapv:UnspecifiedMatching MONDO:0034145 oculocerebrodental syndrome skos:exactMatch OMIM:618440 oculoskeletodental syndrome semapv:UnspecifiedMatching MONDO:0034145 oculocerebrodental syndrome skos:exactMatch Orphanet:557003 Oculoskeletodental syndrome semapv:UnspecifiedMatching MONDO:0034145 oculocerebrodental syndrome skos:exactMatch UMLS:C5193101 semapv:UnspecifiedMatching MONDO:0034146 spastic ataxia-dysarthria due to glutaminase deficiency skos:exactMatch MEDGEN:1814477 semapv:UnspecifiedMatching MONDO:0034146 spastic ataxia-dysarthria due to glutaminase deficiency skos:exactMatch Orphanet:557056 Spastic ataxia-dysarthria due to glutaminase deficiency semapv:UnspecifiedMatching MONDO:0034146 spastic ataxia-dysarthria due to glutaminase deficiency skos:exactMatch UMLS:C5681336 semapv:UnspecifiedMatching MONDO:0034150 idiopathic gastroparesis skos:exactMatch MEDGEN:540450 semapv:UnspecifiedMatching MONDO:0034150 idiopathic gastroparesis skos:exactMatch Orphanet:558411 Idiopathic gastroparesis semapv:UnspecifiedMatching MONDO:0034150 idiopathic gastroparesis skos:exactMatch UMLS:C0267171 semapv:UnspecifiedMatching MONDO:0034186 autosomal recessive extra-oral halitosis skos:exactMatch Orphanet:562538 Autosomal recessive extra-oral halitosis semapv:UnspecifiedMatching MONDO:0034189 primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome skos:exactMatch MEDGEN:1812237 semapv:UnspecifiedMatching MONDO:0034189 primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome skos:exactMatch Orphanet:562639 Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome semapv:UnspecifiedMatching MONDO:0034189 primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome skos:exactMatch UMLS:C5680117 semapv:UnspecifiedMatching MONDO:0034204 syndromic congenital sodium diarrhea skos:exactMatch MEDGEN:1805017 semapv:UnspecifiedMatching MONDO:0034204 syndromic congenital sodium diarrhea skos:exactMatch Orphanet:563708 Syndromic congenital sodium diarrhea semapv:UnspecifiedMatching MONDO:0034204 syndromic congenital sodium diarrhea skos:exactMatch UMLS:C5680120 semapv:UnspecifiedMatching MONDO:0034212 methotrexate toxicity skos:exactMatch MEDGEN:108272 semapv:UnspecifiedMatching MONDO:0034212 methotrexate toxicity skos:exactMatch Orphanet:565782 Methotrexate toxicity semapv:UnspecifiedMatching MONDO:0034212 methotrexate toxicity skos:exactMatch UMLS:C0568062 semapv:UnspecifiedMatching MONDO:0034216 resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha skos:exactMatch MEDGEN:1830097 semapv:UnspecifiedMatching MONDO:0034216 resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha skos:exactMatch Orphanet:566231 Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha semapv:UnspecifiedMatching MONDO:0034216 resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha skos:exactMatch UMLS:C5680127 semapv:UnspecifiedMatching MONDO:0034443 obsolete genetic non-acquired premature ovarian failure skos:exactMatch Orphanet:485382 Rare genetic premature ovarian failure semapv:UnspecifiedMatching MONDO:0034556 vibratory angioedema skos:exactMatch MEDGEN:99175 semapv:UnspecifiedMatching MONDO:0034556 vibratory angioedema skos:exactMatch UMLS:C0473546 semapv:UnspecifiedMatching MONDO:0034556 vibratory angioedema skos:exactMatch icd11.foundation:1471948086 Vibratory angioedema semapv:UnspecifiedMatching MONDO:0034641 obsolete rare genetic hyperkinetic movement disorder skos:exactMatch Orphanet:496916 Rare genetic hyperkinetic movement disorder semapv:UnspecifiedMatching MONDO:0034661 obsolete syndromic biliary atresia skos:exactMatch Orphanet:498350 Syndromic biliary atresia semapv:UnspecifiedMatching MONDO:0034667 obsolete longitudinal limb defect skos:exactMatch Orphanet:498457 Non-syndromic longitudinal limb defect semapv:UnspecifiedMatching MONDO:0034668 obsolete terminal transverse limb defect skos:exactMatch Orphanet:498461 Non-syndromic terminal transverse limb defect semapv:UnspecifiedMatching MONDO:0034669 obsolete non-syndromic preaxial polydactyly skos:exactMatch Orphanet:498464 Non-syndromic preaxial polydactyly semapv:UnspecifiedMatching MONDO:0034670 obsolete non-syndromic postaxial polydactyly skos:exactMatch Orphanet:498467 Non-syndromic postaxial polydactyly semapv:UnspecifiedMatching MONDO:0034671 obsolete non-syndromic complex polydactyly skos:exactMatch Orphanet:498470 Non-syndromic complex polydactyly semapv:UnspecifiedMatching MONDO:0034676 overgrowth syndrome with 2q37 translocation skos:exactMatch MEDGEN:1798659 semapv:UnspecifiedMatching MONDO:0034676 overgrowth syndrome with 2q37 translocation skos:exactMatch Orphanet:498488 Overgrowth syndrome with 2q37 translocation semapv:UnspecifiedMatching MONDO:0034676 overgrowth syndrome with 2q37 translocation skos:exactMatch UMLS:C5567236 semapv:UnspecifiedMatching MONDO:0034733 obsolete cochlear nerve deficiency skos:broadMatch ICD10CM:H93.3 Disorders of acoustic nerve semapv:UnspecifiedMatching MONDO:0034733 obsolete cochlear nerve deficiency skos:exactMatch Orphanet:502318 Cochlear nerve deficiency semapv:UnspecifiedMatching MONDO:0034846 primary desmosis coli skos:exactMatch MEDGEN:1812159 semapv:UnspecifiedMatching MONDO:0034846 primary desmosis coli skos:exactMatch Orphanet:565641 Primary desmosis coli semapv:UnspecifiedMatching MONDO:0034846 primary desmosis coli skos:exactMatch UMLS:C5680125 semapv:UnspecifiedMatching MONDO:0034872 obsolete large granular lymphocyte leukemia skos:exactMatch Orphanet:512034 Large granular lymphocyte leukemia semapv:UnspecifiedMatching MONDO:0034895 congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome skos:exactMatch MEDGEN:1807957 semapv:UnspecifiedMatching MONDO:0034895 congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome skos:exactMatch Orphanet:514352 Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome semapv:UnspecifiedMatching MONDO:0034895 congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome skos:exactMatch UMLS:C5680208 semapv:UnspecifiedMatching MONDO:0034901 obsolete ATP13A2-related parkinsonism skos:exactMatch Orphanet:514980 ATP13A2-related parkinsonism semapv:UnspecifiedMatching MONDO:0034923 obsolete inflammatory/autoimmune disorder involving the lacrimal system skos:exactMatch Orphanet:519264 Inflammatory/autoimmune disorder involving the lacrimal system semapv:UnspecifiedMatching MONDO:0034926 obsolete rare disorder with entropion skos:exactMatch Orphanet:519270 Rare disorder with entropion semapv:UnspecifiedMatching MONDO:0034931 obsolete rare conjunctivitis skos:exactMatch Orphanet:519280 Rare conjunctivitis semapv:UnspecifiedMatching MONDO:0034937 obsolete syndromic ectopia lentis skos:exactMatch Orphanet:519292 Syndromic ectopia lentis semapv:UnspecifiedMatching MONDO:0034943 obsolete isolated vitreoretinopathy skos:exactMatch Orphanet:519304 Isolated vitreoretinopathy semapv:UnspecifiedMatching MONDO:0034953 obsolete syndromic inherited retinal disorder skos:exactMatch Orphanet:519325 Syndromic inherited retinal disorder semapv:UnspecifiedMatching MONDO:0034954 obsolete syndromic vitreoretinopathy skos:exactMatch Orphanet:519327 Syndromic vitreoretinopathy semapv:UnspecifiedMatching MONDO:0034961 obsolete rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature skos:exactMatch Orphanet:519341 Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature semapv:UnspecifiedMatching MONDO:0034962 obsolete rare ophthalmic disorder with cortical involvement skos:exactMatch Orphanet:519343 Rare ophthalmic disorder with cortical involvement semapv:UnspecifiedMatching MONDO:0034965 obsolete rare ophthalmic disorder with cranial nerve involvement skos:exactMatch Orphanet:519349 Rare ophthalmic disorder with cranial nerve involvement semapv:UnspecifiedMatching MONDO:0034968 obsolete rare ocular motility/alignment disorder skos:exactMatch Orphanet:519355 Rare ocular motility/alignment disorder semapv:UnspecifiedMatching MONDO:0034971 isolated congenital entropion skos:exactMatch Orphanet:519386 Isolated congenital entropion semapv:UnspecifiedMatching MONDO:0034971 isolated congenital entropion skos:exactMatch icd11.foundation:1290880184 Congenital entropion semapv:UnspecifiedMatching MONDO:0034976 iatrogenic Creutzfeldt-Jakob disease skos:exactMatch MEDGEN:908476 semapv:UnspecifiedMatching MONDO:0034976 iatrogenic Creutzfeldt-Jakob disease skos:exactMatch Orphanet:576379 Iatrogenic Creutzfeldt-Jakob disease semapv:UnspecifiedMatching MONDO:0034976 iatrogenic Creutzfeldt-Jakob disease skos:exactMatch UMLS:C2349757 semapv:UnspecifiedMatching MONDO:0034976 iatrogenic Creutzfeldt-Jakob disease skos:exactMatch icd11.foundation:437591130 Iatrogenically acquired Creutzfeldt-Jakob Disease semapv:UnspecifiedMatching MONDO:0034977 obsolete isolated microspherophakia skos:exactMatch ICD10CM:Q12.4 Spherophakia semapv:UnspecifiedMatching MONDO:0034977 obsolete isolated microspherophakia skos:exactMatch Orphanet:519396 Isolated microspherophakia semapv:UnspecifiedMatching MONDO:0034977 obsolete isolated microspherophakia skos:exactMatch icd11.foundation:1194029577 Spherophakia semapv:UnspecifiedMatching MONDO:0034978 isolated foveal hypoplasia skos:broadMatch ICD10CM:H35.8 Other specified retinal disorders semapv:UnspecifiedMatching MONDO:0034978 isolated foveal hypoplasia skos:exactMatch MEDGEN:376923 semapv:UnspecifiedMatching MONDO:0034978 isolated foveal hypoplasia skos:exactMatch Orphanet:519398 Isolated foveal hypoplasia semapv:UnspecifiedMatching MONDO:0034978 isolated foveal hypoplasia skos:exactMatch UMLS:C1850993 semapv:UnspecifiedMatching MONDO:0034979 obsolete peripapillary staphyloma skos:broadMatch ICD10CM:Q14.2 Congenital malformation of optic disc semapv:UnspecifiedMatching MONDO:0034979 obsolete peripapillary staphyloma skos:exactMatch Orphanet:519400 Peripapillary staphyloma semapv:UnspecifiedMatching MONDO:0034980 obsolete isolated megalopapilla skos:broadMatch ICD10CM:Q14.2 Congenital malformation of optic disc semapv:UnspecifiedMatching MONDO:0034980 obsolete isolated megalopapilla skos:exactMatch Orphanet:519402 Isolated megalopapilla semapv:UnspecifiedMatching MONDO:0034980 obsolete isolated megalopapilla skos:exactMatch icd11.foundation:1410300100 Megalopapilla semapv:UnspecifiedMatching MONDO:0034981 obsolete optic disk pit skos:broadMatch ICD10CM:Q14.2 Congenital malformation of optic disc semapv:UnspecifiedMatching MONDO:0034981 obsolete optic disk pit skos:exactMatch Orphanet:519404 Optic disc pit semapv:UnspecifiedMatching MONDO:0034987 intraductal tubulopapillary neoplasm of pancreas skos:exactMatch MEDGEN:459415 semapv:UnspecifiedMatching MONDO:0034987 intraductal tubulopapillary neoplasm of pancreas skos:exactMatch NCIT:C95506 Pancreatic Intraductal Tubulopapillary Neoplasm semapv:UnspecifiedMatching MONDO:0034987 intraductal tubulopapillary neoplasm of pancreas skos:exactMatch Orphanet:580572 Intraductal tubulopapillary neoplasm of pancreas semapv:UnspecifiedMatching MONDO:0034987 intraductal tubulopapillary neoplasm of pancreas skos:exactMatch UMLS:C2987189 semapv:UnspecifiedMatching MONDO:0034989 intellectual disability-cardiac anomalies-short stature-joint laxity syndrome skos:exactMatch MEDGEN:1799995 semapv:UnspecifiedMatching MONDO:0034989 intellectual disability-cardiac anomalies-short stature-joint laxity syndrome skos:exactMatch Orphanet:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome semapv:UnspecifiedMatching MONDO:0034989 intellectual disability-cardiac anomalies-short stature-joint laxity syndrome skos:exactMatch UMLS:C5568572 semapv:UnspecifiedMatching MONDO:0034991 intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome skos:exactMatch MEDGEN:1799324 semapv:UnspecifiedMatching MONDO:0034991 intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome skos:exactMatch Orphanet:508512 Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome semapv:UnspecifiedMatching MONDO:0034991 intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome skos:exactMatch UMLS:C5567901 semapv:UnspecifiedMatching MONDO:0035001 obsolete rare disorder of the visual organs skos:exactMatch Orphanet:520814 Rare disorder of the visual organs semapv:UnspecifiedMatching MONDO:0035002 obsolete isolated inherited retinal disorder skos:exactMatch Orphanet:520817 Isolated inherited retinal disorder semapv:UnspecifiedMatching MONDO:0035004 serine biosynthesis pathway deficiency, infantile/juvenile form skos:exactMatch MEDGEN:1830119 semapv:UnspecifiedMatching MONDO:0035004 serine biosynthesis pathway deficiency, infantile/juvenile form skos:exactMatch Orphanet:583595 Serine biosynthesis pathway deficiency, infantile/juvenile form semapv:UnspecifiedMatching MONDO:0035004 serine biosynthesis pathway deficiency, infantile/juvenile form skos:exactMatch UMLS:C5681678 semapv:UnspecifiedMatching MONDO:0035008 isolated splenic vein thrombosis skos:exactMatch MEDGEN:544034 semapv:UnspecifiedMatching MONDO:0035008 isolated splenic vein thrombosis skos:exactMatch Orphanet:583856 Isolated splenic vein thrombosis semapv:UnspecifiedMatching MONDO:0035008 isolated splenic vein thrombosis skos:exactMatch UMLS:C0272416 semapv:UnspecifiedMatching MONDO:0035008 isolated splenic vein thrombosis skos:exactMatch icd11.foundation:121618859 Splenic vein thrombosis semapv:UnspecifiedMatching MONDO:0035009 isolated mesenteric vein thrombosis skos:exactMatch MEDGEN:120599 semapv:UnspecifiedMatching MONDO:0035009 isolated mesenteric vein thrombosis skos:exactMatch Orphanet:583861 Isolated mesenteric vein thrombosis semapv:UnspecifiedMatching MONDO:0035009 isolated mesenteric vein thrombosis skos:exactMatch UMLS:C0267412 semapv:UnspecifiedMatching MONDO:0035009 isolated mesenteric vein thrombosis skos:exactMatch icd11.foundation:213868120 Acute mesenteric venous occlusion semapv:UnspecifiedMatching MONDO:0035013 obsolete genetic primary orthostatic disorder skos:exactMatch Orphanet:521232 Genetic primary orthostatic disorder semapv:UnspecifiedMatching MONDO:0035014 obsolete primary orthostatic disorder skos:exactMatch Orphanet:521236 Primary orthostatic disorder semapv:UnspecifiedMatching MONDO:0035018 frontonasal dysplasia-bifid nose-upper limb anomalies syndrome skos:exactMatch MEDGEN:1799315 semapv:UnspecifiedMatching MONDO:0035018 frontonasal dysplasia-bifid nose-upper limb anomalies syndrome skos:exactMatch Orphanet:521308 Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome semapv:UnspecifiedMatching MONDO:0035018 frontonasal dysplasia-bifid nose-upper limb anomalies syndrome skos:exactMatch UMLS:C5567892 semapv:UnspecifiedMatching MONDO:0035027 microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome skos:exactMatch MEDGEN:1830117 semapv:UnspecifiedMatching MONDO:0035027 microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome skos:exactMatch Orphanet:521445 Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome semapv:UnspecifiedMatching MONDO:0035027 microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome skos:exactMatch UMLS:C5681443 semapv:UnspecifiedMatching MONDO:0035037 obsolete rare genetic disorder of the visual organs skos:exactMatch Orphanet:522504 Rare genetic disorder of the visual organs semapv:UnspecifiedMatching MONDO:0035075 obsolete secondary early-onset glaucoma of genetic origin skos:exactMatch Orphanet:522580 Secondary early-onset glaucoma of genetic origin semapv:UnspecifiedMatching MONDO:0035105 diaphragmatic hernia-short bowel-asplenia syndrome skos:exactMatch MEDGEN:1811530 semapv:UnspecifiedMatching MONDO:0035105 diaphragmatic hernia-short bowel-asplenia syndrome skos:exactMatch Orphanet:527468 Diaphragmatic hernia-short bowel-asplenia syndrome semapv:UnspecifiedMatching MONDO:0035105 diaphragmatic hernia-short bowel-asplenia syndrome skos:exactMatch UMLS:C5681454 semapv:UnspecifiedMatching MONDO:0035112 acute myeloid leukemia with BCR-ABL1 skos:exactMatch DOID:0080976 acute myeloid leukemia with BCR-ABL1 semapv:UnspecifiedMatching MONDO:0035112 acute myeloid leukemia with BCR-ABL1 skos:exactMatch MEDGEN:1377153 semapv:UnspecifiedMatching MONDO:0035112 acute myeloid leukemia with BCR-ABL1 skos:exactMatch NCIT:C129785 Acute Myeloid Leukemia with BCR-ABL1 semapv:UnspecifiedMatching MONDO:0035112 acute myeloid leukemia with BCR-ABL1 skos:exactMatch Orphanet:585867 Acute myeloid leukemia with t(9;22)(q34.1;q11.2) semapv:UnspecifiedMatching MONDO:0035112 acute myeloid leukemia with BCR-ABL1 skos:exactMatch UMLS:C4329268 semapv:UnspecifiedMatching MONDO:0035121 myeloid/lymphoid neoplasm associated with JAK2 rearrangement skos:exactMatch MEDGEN:1689091 semapv:UnspecifiedMatching MONDO:0035121 myeloid/lymphoid neoplasm associated with JAK2 rearrangement skos:exactMatch NCIT:C129853 Myeloid/Lymphoid Neoplasms with JAK2 Rearrangement semapv:UnspecifiedMatching MONDO:0035121 myeloid/lymphoid neoplasm associated with JAK2 rearrangement skos:exactMatch Orphanet:589542 Myeloid/lymphoid neoplasm associated with JAK2 rearrangement semapv:UnspecifiedMatching MONDO:0035121 myeloid/lymphoid neoplasm associated with JAK2 rearrangement skos:exactMatch UMLS:C5229383 semapv:UnspecifiedMatching MONDO:0035124 linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies skos:exactMatch MEDGEN:1806249 semapv:UnspecifiedMatching MONDO:0035124 linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies skos:exactMatch Orphanet:589608 Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies semapv:UnspecifiedMatching MONDO:0035124 linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies skos:exactMatch UMLS:C5680313 semapv:UnspecifiedMatching MONDO:0035133 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome skos:exactMatch MEDGEN:1641154 semapv:UnspecifiedMatching MONDO:0035133 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome skos:exactMatch OMIM:617991 chung-jansen syndrome semapv:UnspecifiedMatching MONDO:0035133 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome skos:exactMatch Orphanet:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome semapv:UnspecifiedMatching MONDO:0035133 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome skos:exactMatch UMLS:C4693860 semapv:UnspecifiedMatching MONDO:0035136 isolated melanotic schwannoma skos:exactMatch Orphanet:590539 Isolated melanotic schwannoma semapv:UnspecifiedMatching MONDO:0035149 secondary erythromelalgia skos:broadMatch ICD10CM:I73.8 Other specified peripheral vascular diseases semapv:UnspecifiedMatching MONDO:0035149 secondary erythromelalgia skos:exactMatch MEDGEN:639378 semapv:UnspecifiedMatching MONDO:0035149 secondary erythromelalgia skos:exactMatch Orphanet:529864 Secondary erythromelalgia semapv:UnspecifiedMatching MONDO:0035149 secondary erythromelalgia skos:exactMatch UMLS:C0543820 semapv:UnspecifiedMatching MONDO:0035149 secondary erythromelalgia skos:exactMatch icd11.foundation:1009405597 Secondary erythromelalgia semapv:UnspecifiedMatching MONDO:0035151 17q24.2 microdeletion syndrome skos:exactMatch MEDGEN:1808156 semapv:UnspecifiedMatching MONDO:0035151 17q24.2 microdeletion syndrome skos:exactMatch Orphanet:529962 17q24.2 microdeletion syndrome semapv:UnspecifiedMatching MONDO:0035151 17q24.2 microdeletion syndrome skos:exactMatch UMLS:C5680185 semapv:UnspecifiedMatching MONDO:0035153 male infertility due to acephalic spermatozoa skos:exactMatch DOID:0112311 male infertility due to acephalic spermatozoa semapv:UnspecifiedMatching MONDO:0035153 male infertility due to acephalic spermatozoa skos:exactMatch Orphanet:529970 Male infertility due to acephalic spermatozoa semapv:UnspecifiedMatching MONDO:0035159 dermoid or epidermoid cyst of the central nervous system skos:broadMatch ICD10CM:Q07.8 Other specified congenital malformations of nervous system semapv:UnspecifiedMatching MONDO:0035159 dermoid or epidermoid cyst of the central nervous system skos:exactMatch MEDGEN:1842182 semapv:UnspecifiedMatching MONDO:0035159 dermoid or epidermoid cyst of the central nervous system skos:exactMatch Orphanet:530033 Dermoid or epidermoid cyst of the central nervous system semapv:UnspecifiedMatching MONDO:0035159 dermoid or epidermoid cyst of the central nervous system skos:exactMatch UMLS:C5680190 semapv:UnspecifiedMatching MONDO:0035161 progressive dementia with neuroserpin inclusion bodies skos:broadMatch ICD10CM:G40.3 Generalized idiopathic epilepsy and epileptic syndromes semapv:UnspecifiedMatching MONDO:0035161 progressive dementia with neuroserpin inclusion bodies skos:exactMatch MEDGEN:1842194 semapv:UnspecifiedMatching MONDO:0035161 progressive dementia with neuroserpin inclusion bodies skos:exactMatch Orphanet:530303 Progressive dementia with neuroserpin inclusion bodies semapv:UnspecifiedMatching MONDO:0035161 progressive dementia with neuroserpin inclusion bodies skos:exactMatch UMLS:C5680143 semapv:UnspecifiedMatching MONDO:0035162 obsolete PIK3CA-related overgrowth syndrome skos:exactMatch Orphanet:530313 PIK3CA-related overgrowth syndrome semapv:UnspecifiedMatching MONDO:0035173 9q21.13 microdeletion syndrome skos:broadMatch ICD10CM:F78.1 semapv:UnspecifiedMatching MONDO:0035173 9q21.13 microdeletion syndrome skos:exactMatch MEDGEN:1803709 semapv:UnspecifiedMatching MONDO:0035173 9q21.13 microdeletion syndrome skos:exactMatch Orphanet:531151 9q21.13 microdeletion syndrome semapv:UnspecifiedMatching MONDO:0035173 9q21.13 microdeletion syndrome skos:exactMatch UMLS:C5681312 semapv:UnspecifiedMatching MONDO:0035220 PLG-related hereditary angioedema with normal C1inh skos:broadMatch ICD10CM:D84.1 Defects in the complement system semapv:UnspecifiedMatching MONDO:0035220 PLG-related hereditary angioedema with normal C1inh skos:exactMatch MEDGEN:1843266 semapv:UnspecifiedMatching MONDO:0035220 PLG-related hereditary angioedema with normal C1inh skos:exactMatch Orphanet:537072 PLG-related hereditary angioedema with normal C1Inh semapv:UnspecifiedMatching MONDO:0035220 PLG-related hereditary angioedema with normal C1inh skos:exactMatch UMLS:C5680155 semapv:UnspecifiedMatching MONDO:0035235 classic pyoderma gangrenosum skos:exactMatch MEDGEN:1814456 semapv:UnspecifiedMatching MONDO:0035235 classic pyoderma gangrenosum skos:exactMatch Orphanet:538863 Classic pyoderma gangrenosum semapv:UnspecifiedMatching MONDO:0035235 classic pyoderma gangrenosum skos:exactMatch UMLS:C5680157 semapv:UnspecifiedMatching MONDO:0035236 pustular pyoderma gangrenosum skos:exactMatch MEDGEN:1814476 semapv:UnspecifiedMatching MONDO:0035236 pustular pyoderma gangrenosum skos:exactMatch Orphanet:538866 Pustular pyoderma gangrenosum semapv:UnspecifiedMatching MONDO:0035236 pustular pyoderma gangrenosum skos:exactMatch UMLS:C5681317 semapv:UnspecifiedMatching MONDO:0035237 bullous pyoderma gangrenosum skos:exactMatch MEDGEN:590609 semapv:UnspecifiedMatching MONDO:0035237 bullous pyoderma gangrenosum skos:exactMatch Orphanet:538869 Bullous pyoderma gangrenosum semapv:UnspecifiedMatching MONDO:0035237 bullous pyoderma gangrenosum skos:exactMatch UMLS:C0406687 semapv:UnspecifiedMatching MONDO:0035238 vegetative pyoderma gangrenosum skos:exactMatch MEDGEN:1842944 semapv:UnspecifiedMatching MONDO:0035238 vegetative pyoderma gangrenosum skos:exactMatch Orphanet:538872 Vegetative pyoderma gangrenosum semapv:UnspecifiedMatching MONDO:0035238 vegetative pyoderma gangrenosum skos:exactMatch UMLS:C5680158 semapv:UnspecifiedMatching MONDO:0035249 obsolete anomalous aortic origin of the left coronary artery skos:broadMatch ICD10CM:Q24.5 Malformation of coronary vessels semapv:UnspecifiedMatching MONDO:0035249 obsolete anomalous aortic origin of the left coronary artery skos:exactMatch Orphanet:541443 Anomalous aortic origin of the left coronary artery semapv:UnspecifiedMatching MONDO:0035250 obsolete anomalous aortic origin of the right coronary artery skos:broadMatch ICD10CM:Q24.5 Malformation of coronary vessels semapv:UnspecifiedMatching MONDO:0035250 obsolete anomalous aortic origin of the right coronary artery skos:exactMatch Orphanet:541454 Anomalous aortic origin of the right coronary artery semapv:UnspecifiedMatching MONDO:0035251 obsolete anomalous aortic origin of coronary artery skos:broadMatch ICD10CM:Q24.5 Malformation of coronary vessels semapv:UnspecifiedMatching MONDO:0035251 obsolete anomalous aortic origin of coronary artery skos:exactMatch Orphanet:541478 Anomalous aortic origin of coronary artery semapv:UnspecifiedMatching MONDO:0035252 obsolete anomalous origin of coronary artery from the pulmonary artery skos:broadMatch ICD10CM:Q24.5 Malformation of coronary vessels semapv:UnspecifiedMatching MONDO:0035252 obsolete anomalous origin of coronary artery from the pulmonary artery skos:exactMatch Orphanet:541507 Anomalous origin of coronary artery from the pulmonary artery semapv:UnspecifiedMatching MONDO:0035252 obsolete anomalous origin of coronary artery from the pulmonary artery skos:exactMatch icd11.foundation:1862930314 Anomalous origin of coronary artery from pulmonary arterial tree semapv:UnspecifiedMatching MONDO:0035267 obsolete quadricuspid aortic valve skos:exactMatch Orphanet:542568 Quadricuspid aortic valve semapv:UnspecifiedMatching MONDO:0035274 obsolete anomaly of the coronary ostia skos:exactMatch Orphanet:542822 Anomaly of the coronary ostia semapv:UnspecifiedMatching MONDO:0035290 atypical hemolytic uremic syndrome with complement gene abnormality skos:broadMatch ICD10CM:D58.8 Other specified hereditary hemolytic anemias semapv:UnspecifiedMatching MONDO:0035290 atypical hemolytic uremic syndrome with complement gene abnormality skos:exactMatch MEDGEN:1842625 semapv:UnspecifiedMatching MONDO:0035290 atypical hemolytic uremic syndrome with complement gene abnormality skos:exactMatch Orphanet:544472 Atypical hemolytic uremic syndrome with complement gene abnormality semapv:UnspecifiedMatching MONDO:0035290 atypical hemolytic uremic syndrome with complement gene abnormality skos:exactMatch UMLS:C5680166 semapv:UnspecifiedMatching MONDO:0035293 streptococcus pneumoniae-associated hemolytic uremic syndrome skos:broadMatch ICD10CM:D58.8 Other specified hereditary hemolytic anemias semapv:UnspecifiedMatching MONDO:0035293 streptococcus pneumoniae-associated hemolytic uremic syndrome skos:exactMatch MEDGEN:1842720 semapv:UnspecifiedMatching MONDO:0035293 streptococcus pneumoniae-associated hemolytic uremic syndrome skos:exactMatch Orphanet:544493 Streptococcus pneumoniae-associated hemolytic uremic syndrome semapv:UnspecifiedMatching MONDO:0035293 streptococcus pneumoniae-associated hemolytic uremic syndrome skos:exactMatch UMLS:C5680164 semapv:UnspecifiedMatching MONDO:0035295 congenital primary megaureter, refluxing and obstructed form skos:broadMatch ICD10CM:Q62.2 Congenital megaureter semapv:UnspecifiedMatching MONDO:0035295 congenital primary megaureter, refluxing and obstructed form skos:exactMatch MEDGEN:1843335 semapv:UnspecifiedMatching MONDO:0035295 congenital primary megaureter, refluxing and obstructed form skos:exactMatch Orphanet:544578 Congenital primary megaureter, refluxing and obstructed form semapv:UnspecifiedMatching MONDO:0035295 congenital primary megaureter, refluxing and obstructed form skos:exactMatch UMLS:C5681326 semapv:UnspecifiedMatching MONDO:0035312 fibrohistiocytic inflammatory pseudotumor of the liver skos:broadMatch ICD10CM:K75.8 Other specified inflammatory liver diseases semapv:UnspecifiedMatching MONDO:0035312 fibrohistiocytic inflammatory pseudotumor of the liver skos:exactMatch MEDGEN:1843230 semapv:UnspecifiedMatching MONDO:0035312 fibrohistiocytic inflammatory pseudotumor of the liver skos:exactMatch Orphanet:555434 Fibrohistiocytic inflammatory pseudotumor of the liver semapv:UnspecifiedMatching MONDO:0035312 fibrohistiocytic inflammatory pseudotumor of the liver skos:exactMatch UMLS:C5681328 semapv:UnspecifiedMatching MONDO:0035313 lymphoplasmacytic inflammatory pseudotumor of the liver skos:broadMatch ICD10CM:K75.8 Other specified inflammatory liver diseases semapv:UnspecifiedMatching MONDO:0035313 lymphoplasmacytic inflammatory pseudotumor of the liver skos:exactMatch MEDGEN:1843135 semapv:UnspecifiedMatching MONDO:0035313 lymphoplasmacytic inflammatory pseudotumor of the liver skos:exactMatch Orphanet:555437 Lymphoplasmacytic inflammatory pseudotumor of the liver semapv:UnspecifiedMatching MONDO:0035313 lymphoplasmacytic inflammatory pseudotumor of the liver skos:exactMatch UMLS:C5680170 semapv:UnspecifiedMatching MONDO:0035314 obsolete congenital tricuspid valve dysplasia skos:broadMatch ICD10CM:Q22.8 Other congenital malformations of tricuspid valve semapv:UnspecifiedMatching MONDO:0035314 obsolete congenital tricuspid valve dysplasia skos:exactMatch Orphanet:555874 Congenital tricuspid valve dysplasia semapv:UnspecifiedMatching MONDO:0035320 early-onset familial hypoaldosteronism skos:broadMatch ICD10CM:E27.4 Other and unspecified adrenocortical insufficiency semapv:UnspecifiedMatching MONDO:0035320 early-onset familial hypoaldosteronism skos:exactMatch MEDGEN:1842560 semapv:UnspecifiedMatching MONDO:0035320 early-onset familial hypoaldosteronism skos:exactMatch Orphanet:556030 Early-onset familial hypoaldosteronism semapv:UnspecifiedMatching MONDO:0035320 early-onset familial hypoaldosteronism skos:exactMatch UMLS:C5680171 semapv:UnspecifiedMatching MONDO:0035321 late-onset familial hypoaldosteronism skos:broadMatch ICD10CM:E27.4 Other and unspecified adrenocortical insufficiency semapv:UnspecifiedMatching MONDO:0035321 late-onset familial hypoaldosteronism skos:exactMatch MEDGEN:1843290 semapv:UnspecifiedMatching MONDO:0035321 late-onset familial hypoaldosteronism skos:exactMatch Orphanet:556037 Late-onset familial hypoaldosteronism semapv:UnspecifiedMatching MONDO:0035321 late-onset familial hypoaldosteronism skos:exactMatch UMLS:C5680172 semapv:UnspecifiedMatching MONDO:0035328 obsolete rare disorder due to poisoning skos:exactMatch Orphanet:556508 Rare disorder due to poisoning semapv:UnspecifiedMatching MONDO:0035337 Duane retraction syndrome with congenital deafness skos:exactMatch MEDGEN:1804304 semapv:UnspecifiedMatching MONDO:0035337 Duane retraction syndrome with congenital deafness skos:exactMatch Orphanet:529574 Duane retraction syndrome with congenital deafness semapv:UnspecifiedMatching MONDO:0035337 Duane retraction syndrome with congenital deafness skos:exactMatch UMLS:C5680193 semapv:UnspecifiedMatching MONDO:0035340 obsolete rare disorder with hirschsprung disease as a major feature skos:exactMatch Orphanet:557866 Rare disorder with Hirschsprung disease as a major feature semapv:UnspecifiedMatching MONDO:0035344 acute bilirubin encephalopathy skos:exactMatch MEDGEN:1808922 semapv:UnspecifiedMatching MONDO:0035344 acute bilirubin encephalopathy skos:exactMatch Orphanet:529799 Acute bilirubin encephalopathy semapv:UnspecifiedMatching MONDO:0035344 acute bilirubin encephalopathy skos:exactMatch UMLS:C5671282 semapv:UnspecifiedMatching MONDO:0035345 chronic bilirubin encephalopathy skos:exactMatch MEDGEN:1806573 semapv:UnspecifiedMatching MONDO:0035345 chronic bilirubin encephalopathy skos:exactMatch Orphanet:529808 Chronic bilirubin encephalopathy semapv:UnspecifiedMatching MONDO:0035345 chronic bilirubin encephalopathy skos:exactMatch UMLS:C5575229 semapv:UnspecifiedMatching MONDO:0035349 localized dystrophic epidermolysis bullosa skos:exactMatch MEDGEN:634276 semapv:UnspecifiedMatching MONDO:0035349 localized dystrophic epidermolysis bullosa skos:exactMatch Orphanet:595356 Localized dystrophic epidermolysis bullosa semapv:UnspecifiedMatching MONDO:0035349 localized dystrophic epidermolysis bullosa skos:exactMatch UMLS:C0474885 semapv:UnspecifiedMatching MONDO:0035350 letrozole toxicity skos:exactMatch MEDGEN:1826119 semapv:UnspecifiedMatching MONDO:0035350 letrozole toxicity skos:exactMatch Orphanet:529831 Letrozole toxicity semapv:UnspecifiedMatching MONDO:0035350 letrozole toxicity skos:exactMatch UMLS:C5681461 semapv:UnspecifiedMatching MONDO:0035357 portosinusoidal vascular disease skos:exactMatch MEDGEN:1807080 semapv:UnspecifiedMatching MONDO:0035357 portosinusoidal vascular disease skos:exactMatch Orphanet:596937 Portosinusoidal vascular disease semapv:UnspecifiedMatching MONDO:0035357 portosinusoidal vascular disease skos:exactMatch UMLS:C5691366 semapv:UnspecifiedMatching MONDO:0035362 TRIM22-related inflammatory bowel disease skos:exactMatch MEDGEN:1842464 semapv:UnspecifiedMatching MONDO:0035362 TRIM22-related inflammatory bowel disease skos:exactMatch Orphanet:597201 TRIM22-related inflammatory bowel disease semapv:UnspecifiedMatching MONDO:0035362 TRIM22-related inflammatory bowel disease skos:exactMatch UMLS:C5680271 semapv:UnspecifiedMatching MONDO:0035370 ALPI-related inflammatory bowel disease skos:exactMatch MEDGEN:1842198 semapv:UnspecifiedMatching MONDO:0035370 ALPI-related inflammatory bowel disease skos:exactMatch Orphanet:597887 ALPI-related inflammatory bowel disease semapv:UnspecifiedMatching MONDO:0035370 ALPI-related inflammatory bowel disease skos:exactMatch UMLS:C5681586 semapv:UnspecifiedMatching MONDO:0035375 multisystem inflammatory syndrome in children and adults skos:exactMatch MEDGEN:1842571 semapv:UnspecifiedMatching MONDO:0035375 multisystem inflammatory syndrome in children and adults skos:exactMatch Orphanet:598363 Multisystem inflammatory syndrome in children and adults semapv:UnspecifiedMatching MONDO:0035375 multisystem inflammatory syndrome in children and adults skos:exactMatch UMLS:C5680268 semapv:UnspecifiedMatching MONDO:0035398 obsolete hypomyelination of early myelinating structures skos:exactMatch Orphanet:599376 Hypomyelination of early myelinating structures semapv:UnspecifiedMatching MONDO:0035400 seronegative autoimmune hepatitis skos:exactMatch MEDGEN:1804383 semapv:UnspecifiedMatching MONDO:0035400 seronegative autoimmune hepatitis skos:exactMatch Orphanet:563589 Seronegative autoimmune hepatitis semapv:UnspecifiedMatching MONDO:0035400 seronegative autoimmune hepatitis skos:exactMatch UMLS:C5680121 semapv:UnspecifiedMatching MONDO:0035401 isolated anencephaly skos:exactMatch Orphanet:563609 Isolated anencephaly semapv:UnspecifiedMatching MONDO:0035401 isolated anencephaly skos:exactMatch icd11.foundation:452325024 Anencephaly without rachischisis semapv:UnspecifiedMatching MONDO:0035402 isolated exencephaly skos:exactMatch MEDGEN:120577 semapv:UnspecifiedMatching MONDO:0035402 isolated exencephaly skos:exactMatch Orphanet:563612 Isolated exencephaly semapv:UnspecifiedMatching MONDO:0035402 isolated exencephaly skos:exactMatch UMLS:C0266453 semapv:UnspecifiedMatching MONDO:0035403 serous cystadenoma of childhood skos:broadMatch ICD10CM:D27 Benign neoplasm of ovary semapv:UnspecifiedMatching MONDO:0035403 serous cystadenoma of childhood skos:exactMatch MEDGEN:1632405 semapv:UnspecifiedMatching MONDO:0035403 serous cystadenoma of childhood skos:exactMatch Orphanet:563666 Serous cystadenoma of childhood semapv:UnspecifiedMatching MONDO:0035403 serous cystadenoma of childhood skos:exactMatch UMLS:C4708593 semapv:UnspecifiedMatching MONDO:0035404 mucinous cystadenoma of childhood skos:broadMatch ICD10CM:D27 Benign neoplasm of ovary semapv:UnspecifiedMatching MONDO:0035404 mucinous cystadenoma of childhood skos:exactMatch MEDGEN:1642057 semapv:UnspecifiedMatching MONDO:0035404 mucinous cystadenoma of childhood skos:exactMatch Orphanet:563671 Mucinous cystadenoma of childhood semapv:UnspecifiedMatching MONDO:0035404 mucinous cystadenoma of childhood skos:exactMatch UMLS:C4708594 semapv:UnspecifiedMatching MONDO:0035405 seromucinous cystadenoma of childhood skos:broadMatch ICD10CM:D27 Benign neoplasm of ovary semapv:UnspecifiedMatching MONDO:0035405 seromucinous cystadenoma of childhood skos:exactMatch MEDGEN:1702847 semapv:UnspecifiedMatching MONDO:0035405 seromucinous cystadenoma of childhood skos:exactMatch Orphanet:563676 Seromucinous cystadenoma of childhood semapv:UnspecifiedMatching MONDO:0035405 seromucinous cystadenoma of childhood skos:exactMatch UMLS:C5231009 semapv:UnspecifiedMatching MONDO:0035406 furuncular myiasis due to Dermatobia hominis skos:exactMatch MEDGEN:548117 semapv:UnspecifiedMatching MONDO:0035406 furuncular myiasis due to Dermatobia hominis skos:exactMatch Orphanet:563684 Furuncular myiasis due to Dermatobia hominis semapv:UnspecifiedMatching MONDO:0035406 furuncular myiasis due to Dermatobia hominis skos:exactMatch UMLS:C0277400 semapv:UnspecifiedMatching MONDO:0035407 furuncular myiasis due to Cordylobia anthropophaga skos:exactMatch MEDGEN:1386398 semapv:UnspecifiedMatching MONDO:0035407 furuncular myiasis due to Cordylobia anthropophaga skos:exactMatch Orphanet:563687 Furuncular myiasis due to Cordylobia anthropophaga semapv:UnspecifiedMatching MONDO:0035407 furuncular myiasis due to Cordylobia anthropophaga skos:exactMatch UMLS:C4511624 semapv:UnspecifiedMatching MONDO:0035408 furuncular myiasis due to Cordylobia rodhaini skos:exactMatch MEDGEN:1685143 semapv:UnspecifiedMatching MONDO:0035408 furuncular myiasis due to Cordylobia rodhaini skos:exactMatch Orphanet:563690 Furuncular myiasis due to Cordylobia rodhaini semapv:UnspecifiedMatching MONDO:0035408 furuncular myiasis due to Cordylobia rodhaini skos:exactMatch UMLS:C5231033 semapv:UnspecifiedMatching MONDO:0035410 isolated congenital aglossia skos:broadMatch ICD10CM:Q38.3 Other congenital malformations of tongue semapv:UnspecifiedMatching MONDO:0035410 isolated congenital aglossia skos:exactMatch MEDGEN:57859 semapv:UnspecifiedMatching MONDO:0035410 isolated congenital aglossia skos:exactMatch Orphanet:563951 Isolated congenital aglossia semapv:UnspecifiedMatching MONDO:0035410 isolated congenital aglossia skos:exactMatch UMLS:C0158663 semapv:UnspecifiedMatching MONDO:0035411 isolated congenital hypoglossia skos:broadMatch ICD10CM:Q38.3 Other congenital malformations of tongue semapv:UnspecifiedMatching MONDO:0035411 isolated congenital hypoglossia skos:exactMatch MEDGEN:10029 semapv:UnspecifiedMatching MONDO:0035411 isolated congenital hypoglossia skos:exactMatch Orphanet:563954 Isolated congenital hypoglossia semapv:UnspecifiedMatching MONDO:0035411 isolated congenital hypoglossia skos:exactMatch UMLS:C0025988 semapv:UnspecifiedMatching MONDO:0035423 primary triglyceride deposit cardiomyovasculopathy skos:broadMatch ICD10CM:E75.5 Other lipid storage disorders semapv:UnspecifiedMatching MONDO:0035423 primary triglyceride deposit cardiomyovasculopathy skos:exactMatch Orphanet:565612 Primary triglyceride deposit cardiomyovasculopathy semapv:UnspecifiedMatching MONDO:0035423 primary triglyceride deposit cardiomyovasculopathy skos:exactMatch SCTID:1279844009 semapv:UnspecifiedMatching MONDO:0035426 obsolete rare disorder potentially indicated for transplant or complication after transplantation skos:exactMatch Orphanet:565779 Rare disorder potentially indicated for transplant or complication after transplantation semapv:UnspecifiedMatching MONDO:0035432 POMGNT2-related limb-girdle muscular dystrophy R24 skos:exactMatch MEDGEN:1830095 semapv:UnspecifiedMatching MONDO:0035432 POMGNT2-related limb-girdle muscular dystrophy R24 skos:exactMatch Orphanet:565899 POMGNT2-related limb-girdle muscular dystrophy R24 semapv:UnspecifiedMatching MONDO:0035432 POMGNT2-related limb-girdle muscular dystrophy R24 skos:exactMatch UMLS:C5680123 semapv:UnspecifiedMatching MONDO:0035437 CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome skos:broadMatch ICD10CM:D89.8 Other specified disorders involving the immune mechanism, not elsewhere classified semapv:UnspecifiedMatching MONDO:0035437 CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome skos:exactMatch MEDGEN:1799987 semapv:UnspecifiedMatching MONDO:0035437 CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome skos:exactMatch Orphanet:566067 CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome semapv:UnspecifiedMatching MONDO:0035437 CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome skos:exactMatch UMLS:C5568564 semapv:UnspecifiedMatching MONDO:0035441 congenital autosomal recessive small-platelet thrombocytopenia skos:broadMatch ICD10CM:D69.4 Other primary thrombocytopenia semapv:UnspecifiedMatching MONDO:0035441 congenital autosomal recessive small-platelet thrombocytopenia skos:exactMatch MEDGEN:1802913 semapv:UnspecifiedMatching MONDO:0035441 congenital autosomal recessive small-platelet thrombocytopenia skos:exactMatch Orphanet:566192 Congenital autosomal recessive small-platelet thrombocytopenia semapv:UnspecifiedMatching MONDO:0035441 congenital autosomal recessive small-platelet thrombocytopenia skos:exactMatch UMLS:C5680129 semapv:UnspecifiedMatching MONDO:0035444 acute mast cell leukemia skos:broadMatch ICD10CM:C94.3 Mast cell leukemia semapv:UnspecifiedMatching MONDO:0035444 acute mast cell leukemia skos:exactMatch MEDGEN:1843106 semapv:UnspecifiedMatching MONDO:0035444 acute mast cell leukemia skos:exactMatch Orphanet:566393 Acute mast cell leukemia semapv:UnspecifiedMatching MONDO:0035444 acute mast cell leukemia skos:exactMatch UMLS:C5680128 semapv:UnspecifiedMatching MONDO:0035445 chronic mast cell leukemia skos:broadMatch ICD10CM:C94.3 Mast cell leukemia semapv:UnspecifiedMatching MONDO:0035445 chronic mast cell leukemia skos:exactMatch MEDGEN:1843226 semapv:UnspecifiedMatching MONDO:0035445 chronic mast cell leukemia skos:exactMatch Orphanet:566396 Chronic mast cell leukemia semapv:UnspecifiedMatching MONDO:0035445 chronic mast cell leukemia skos:exactMatch UMLS:C5680130 semapv:UnspecifiedMatching MONDO:0035447 liver adenomatosis skos:broadMatch ICD10CM:D13.4 Benign neoplasm of liver semapv:UnspecifiedMatching MONDO:0035447 liver adenomatosis skos:exactMatch MEDGEN:1803906 semapv:UnspecifiedMatching MONDO:0035447 liver adenomatosis skos:exactMatch Orphanet:566841 Liver adenomatosis semapv:UnspecifiedMatching MONDO:0035447 liver adenomatosis skos:exactMatch UMLS:C5680136 semapv:UnspecifiedMatching MONDO:0035448 obsolete aprosencephaly/atelencephaly spectrum skos:exactMatch Orphanet:566847 Aprosencephaly/atelencephaly spectrum semapv:UnspecifiedMatching MONDO:0035449 atelencephaly skos:exactMatch MEDGEN:98461 semapv:UnspecifiedMatching MONDO:0035449 atelencephaly skos:exactMatch Orphanet:566852 Atelencephaly semapv:UnspecifiedMatching MONDO:0035449 atelencephaly skos:exactMatch UMLS:C0431348 semapv:UnspecifiedMatching MONDO:0035450 aprosencephaly skos:exactMatch MEDGEN:140908 semapv:UnspecifiedMatching MONDO:0035450 aprosencephaly skos:exactMatch NCIT:C98824 Aprosencephaly semapv:UnspecifiedMatching MONDO:0035450 aprosencephaly skos:exactMatch Orphanet:566857 Aprosencephaly semapv:UnspecifiedMatching MONDO:0035450 aprosencephaly skos:exactMatch UMLS:C0431349 semapv:UnspecifiedMatching MONDO:0035450 aprosencephaly skos:exactMatch icd11.foundation:1740361952 Aprosencephaly semapv:UnspecifiedMatching MONDO:0035451 obsolete left sided atrial isomerism skos:exactMatch Orphanet:566862 Left sided atrial isomerism semapv:UnspecifiedMatching MONDO:0035452 mueller-weiss syndrome skos:exactMatch MEDGEN:1708314 semapv:UnspecifiedMatching MONDO:0035452 mueller-weiss syndrome skos:exactMatch Orphanet:566943 Mueller-Weiss syndrome semapv:UnspecifiedMatching MONDO:0035452 mueller-weiss syndrome skos:exactMatch UMLS:C4761149 semapv:UnspecifiedMatching MONDO:0035459 idiopathic multidrug-resistant nephrotic syndrome skos:broadMatch ICD10CM:N04.8 Nephrotic syndrome with other morphologic changes semapv:UnspecifiedMatching MONDO:0035459 idiopathic multidrug-resistant nephrotic syndrome skos:exactMatch MEDGEN:1842472 semapv:UnspecifiedMatching MONDO:0035459 idiopathic multidrug-resistant nephrotic syndrome skos:exactMatch Orphanet:567550 Idiopathic multidrug-resistant nephrotic syndrome semapv:UnspecifiedMatching MONDO:0035459 idiopathic multidrug-resistant nephrotic syndrome skos:exactMatch UMLS:C5681293 semapv:UnspecifiedMatching MONDO:0035460 idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy skos:broadMatch ICD10CM:N04.8 Nephrotic syndrome with other morphologic changes semapv:UnspecifiedMatching MONDO:0035460 idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy skos:exactMatch MEDGEN:1842217 semapv:UnspecifiedMatching MONDO:0035460 idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy skos:exactMatch Orphanet:567552 Idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy semapv:UnspecifiedMatching MONDO:0035460 idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy skos:exactMatch UMLS:C5680133 semapv:UnspecifiedMatching MONDO:0035461 obsolete systemic disease with glomerulopathy as a major feature skos:exactMatch Orphanet:567554 Systemic disease with glomerulopathy as a major feature semapv:UnspecifiedMatching MONDO:0035466 obsolete nephrotic syndrome without extrarenal manifestations skos:exactMatch Orphanet:567564 Nephrotic syndrome without extrarenal manifestations semapv:UnspecifiedMatching MONDO:0035469 obsolete primary lymphedema without systemic or visceral involvement skos:exactMatch Orphanet:568041 Primary lymphedema without systemic or visceral involvement semapv:UnspecifiedMatching MONDO:0035470 obsolete primary lymphedema with systemic or visceral involvement skos:exactMatch Orphanet:568044 Primary lymphedema with systemic or visceral involvement semapv:UnspecifiedMatching MONDO:0035471 obsolete disorder with multisystemic involvement and primary lymphedema skos:exactMatch Orphanet:568047 Disorder with multisystemic involvement and primary lymphedema semapv:UnspecifiedMatching MONDO:0035472 GJC2-related late-onset primary lymphedema skos:exactMatch MEDGEN:1809328 semapv:UnspecifiedMatching MONDO:0035472 GJC2-related late-onset primary lymphedema skos:exactMatch Orphanet:568051 GJC2-related late-onset primary lymphedema semapv:UnspecifiedMatching MONDO:0035472 GJC2-related late-onset primary lymphedema skos:exactMatch UMLS:C5681305 semapv:UnspecifiedMatching MONDO:0035473 warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome skos:exactMatch MEDGEN:1799992 semapv:UnspecifiedMatching MONDO:0035473 warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome skos:exactMatch Orphanet:568056 Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome semapv:UnspecifiedMatching MONDO:0035473 warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome skos:exactMatch UMLS:C5568569 semapv:UnspecifiedMatching MONDO:0035475 EPHB4-related lymphatic-related hydrops fetalis skos:exactMatch MEDGEN:1802765 semapv:UnspecifiedMatching MONDO:0035475 EPHB4-related lymphatic-related hydrops fetalis skos:exactMatch Orphanet:568065 EPHB4-related lymphatic-related hydrops fetalis semapv:UnspecifiedMatching MONDO:0035475 EPHB4-related lymphatic-related hydrops fetalis skos:exactMatch UMLS:C5680140 semapv:UnspecifiedMatching MONDO:0035499 CELSR1-related late-onset primary lymphedema skos:exactMatch MEDGEN:1802645 semapv:UnspecifiedMatching MONDO:0035499 CELSR1-related late-onset primary lymphedema skos:exactMatch Orphanet:569816 CELSR1-related late-onset primary lymphedema semapv:UnspecifiedMatching MONDO:0035499 CELSR1-related late-onset primary lymphedema skos:exactMatch UMLS:C5681848 semapv:UnspecifiedMatching MONDO:0035500 congenital primary lymphedema of Gordon skos:exactMatch MEDGEN:1804948 semapv:UnspecifiedMatching MONDO:0035500 congenital primary lymphedema of Gordon skos:exactMatch Orphanet:569821 Congenital primary lymphedema of Gordon semapv:UnspecifiedMatching MONDO:0035500 congenital primary lymphedema of Gordon skos:exactMatch UMLS:C5680138 semapv:UnspecifiedMatching MONDO:0035511 ricin poisoning skos:broadMatch ICD10CM:T62.2 Toxic effect of other ingested (parts of) plant(s) semapv:UnspecifiedMatching MONDO:0035511 ricin poisoning skos:exactMatch Orphanet:570470 Ricin poisoning semapv:UnspecifiedMatching MONDO:0035521 blepharophimosis-ptosis-epicanthus inversus syndrome plus skos:exactMatch MEDGEN:1761196 semapv:UnspecifiedMatching MONDO:0035521 blepharophimosis-ptosis-epicanthus inversus syndrome plus skos:exactMatch Orphanet:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus semapv:UnspecifiedMatching MONDO:0035521 blepharophimosis-ptosis-epicanthus inversus syndrome plus skos:exactMatch UMLS:C5437588 semapv:UnspecifiedMatching MONDO:0035524 blepharophimosis-ptosis-epicanthus inversus syndrome type 1 skos:exactMatch MEDGEN:1843155 semapv:UnspecifiedMatching MONDO:0035524 blepharophimosis-ptosis-epicanthus inversus syndrome type 1 skos:exactMatch Orphanet:572354 Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 semapv:UnspecifiedMatching MONDO:0035524 blepharophimosis-ptosis-epicanthus inversus syndrome type 1 skos:exactMatch UMLS:C5680365 semapv:UnspecifiedMatching MONDO:0035525 blepharophimosis-ptosis-epicanthus inversus syndrome type 2 skos:exactMatch MEDGEN:1842581 semapv:UnspecifiedMatching MONDO:0035525 blepharophimosis-ptosis-epicanthus inversus syndrome type 2 skos:exactMatch Orphanet:572361 Blepharophimosis-ptosis-epicanthus inversus syndrome type 2 semapv:UnspecifiedMatching MONDO:0035525 blepharophimosis-ptosis-epicanthus inversus syndrome type 2 skos:exactMatch UMLS:C5680363 semapv:UnspecifiedMatching MONDO:0035534 DONSON-related microcephaly-short stature-limb abnormalities spectrum skos:exactMatch MEDGEN:1814482 semapv:UnspecifiedMatching MONDO:0035534 DONSON-related microcephaly-short stature-limb abnormalities spectrum skos:exactMatch Orphanet:572761 DONSON-related microcephaly-short stature-limb abnormalities spectrum semapv:UnspecifiedMatching MONDO:0035534 DONSON-related microcephaly-short stature-limb abnormalities spectrum skos:exactMatch UMLS:C5681722 semapv:UnspecifiedMatching MONDO:0035540 pheochromocytoma-paraganglioma skos:exactMatch MEDGEN:1826130 semapv:UnspecifiedMatching MONDO:0035540 pheochromocytoma-paraganglioma skos:exactMatch Orphanet:573163 Pheochromocytoma-paraganglioma semapv:UnspecifiedMatching MONDO:0035540 pheochromocytoma-paraganglioma skos:exactMatch UMLS:C5681712 semapv:UnspecifiedMatching MONDO:0035541 obsolete split cord malformation type II skos:exactMatch Orphanet:573253 Split cord malformation type II semapv:UnspecifiedMatching MONDO:0035542 obsolete split cord malformation skos:exactMatch Orphanet:573278 Split cord malformation semapv:UnspecifiedMatching MONDO:0035548 autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency skos:broadMatch ICD10CM:D84.8 Other specified immunodeficiencies semapv:UnspecifiedMatching MONDO:0035548 autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency skos:exactMatch MEDGEN:1830105 semapv:UnspecifiedMatching MONDO:0035548 autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency skos:exactMatch Orphanet:574957 Mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency semapv:UnspecifiedMatching MONDO:0035548 autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency skos:exactMatch UMLS:C5680361 semapv:UnspecifiedMatching MONDO:0035551 cathepsin a-related arteriopathy-strokes-leukoencephalopathy skos:broadMatch ICD10CM:I67.8 Other specified cerebrovascular diseases semapv:UnspecifiedMatching MONDO:0035551 cathepsin a-related arteriopathy-strokes-leukoencephalopathy skos:exactMatch MEDGEN:1804103 semapv:UnspecifiedMatching MONDO:0035551 cathepsin a-related arteriopathy-strokes-leukoencephalopathy skos:exactMatch Orphanet:575553 Cathepsin A-related arteriopathy-strokes-leukoencephalopathy semapv:UnspecifiedMatching MONDO:0035551 cathepsin a-related arteriopathy-strokes-leukoencephalopathy skos:exactMatch UMLS:C5680354 semapv:UnspecifiedMatching MONDO:0035554 obsolete complete atrioventricular septal defect without ventricular hypoplasia skos:exactMatch Orphanet:576227 Complete atrioventricular septal defect without ventricular hypoplasia semapv:UnspecifiedMatching MONDO:0035555 obsolete partial atrioventricular septal defect with ventricular hypoplasia skos:exactMatch Orphanet:576232 Partial atrioventricular septal defect with ventricular hypoplasia semapv:UnspecifiedMatching MONDO:0035556 obsolete partial atrioventricular septal defect without ventricular hypoplasia skos:exactMatch Orphanet:576235 Partial atrioventricular septal defect without ventricular hypoplasia semapv:UnspecifiedMatching MONDO:0035557 obsolete intermediate atrioventricular septal defect skos:exactMatch Orphanet:576242 Intermediate atrioventricular septal defect semapv:UnspecifiedMatching MONDO:0035561 obsolete sporadic human prion disease skos:exactMatch Orphanet:576356 Sporadic human prion disease semapv:UnspecifiedMatching MONDO:0035562 acquired human prion disease skos:exactMatch MEDGEN:1842786 semapv:UnspecifiedMatching MONDO:0035562 acquired human prion disease skos:exactMatch Orphanet:576360 Acquired human prion disease semapv:UnspecifiedMatching MONDO:0035562 acquired human prion disease skos:exactMatch UMLS:C5680357 semapv:UnspecifiedMatching MONDO:0035581 obsolete lethal brain and heart developmental defects skos:exactMatch Orphanet:580933 Lethal brain and heart developmental defects semapv:UnspecifiedMatching MONDO:0035584 punctate inner choroidopathy skos:broadMatch ICD10CM:H31.0 Chorioretinal scars semapv:UnspecifiedMatching MONDO:0035584 punctate inner choroidopathy skos:exactMatch MEDGEN:152679 semapv:UnspecifiedMatching MONDO:0035584 punctate inner choroidopathy skos:exactMatch Orphanet:580951 Punctate inner choroidopathy semapv:UnspecifiedMatching MONDO:0035584 punctate inner choroidopathy skos:exactMatch UMLS:C0730321 semapv:UnspecifiedMatching MONDO:0035584 punctate inner choroidopathy skos:exactMatch icd11.foundation:1322994548 Punctate inner choroidopathy semapv:UnspecifiedMatching MONDO:0035586 Cramp-fasciculation syndrome skos:broadMatch ICD10CM:G90.8 Other disorders of autonomic nervous system semapv:UnspecifiedMatching MONDO:0035586 Cramp-fasciculation syndrome skos:exactMatch MEDGEN:148299 semapv:UnspecifiedMatching MONDO:0035586 Cramp-fasciculation syndrome skos:exactMatch Orphanet:581271 Cramp-fasciculation syndrome semapv:UnspecifiedMatching MONDO:0035586 Cramp-fasciculation syndrome skos:exactMatch UMLS:C0751381 semapv:UnspecifiedMatching MONDO:0035592 congenital infiltrating lipomatosis of the face skos:broadMatch ICD10CM:Q87.3 Congenital malformation syndromes involving early overgrowth semapv:UnspecifiedMatching MONDO:0035592 congenital infiltrating lipomatosis of the face skos:exactMatch MEDGEN:1814459 semapv:UnspecifiedMatching MONDO:0035592 congenital infiltrating lipomatosis of the face skos:exactMatch Orphanet:583097 Congenital infiltrating lipomatosis of the face semapv:UnspecifiedMatching MONDO:0035592 congenital infiltrating lipomatosis of the face skos:exactMatch UMLS:C5680341 semapv:UnspecifiedMatching MONDO:0035592 congenital infiltrating lipomatosis of the face skos:exactMatch icd11.foundation:1669603167 Congenital infiltrating lipomatosis of the face semapv:UnspecifiedMatching MONDO:0035605 B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality skos:exactMatch MEDGEN:396322 semapv:UnspecifiedMatching MONDO:0035605 B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality skos:exactMatch NCIT:C80328 B Lymphoblastic Leukemia/Lymphoma with Recurrent Genetic Abnormalities semapv:UnspecifiedMatching MONDO:0035605 B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality skos:exactMatch Orphanet:585877 B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality semapv:UnspecifiedMatching MONDO:0035605 B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality skos:exactMatch UMLS:C2698313 semapv:UnspecifiedMatching MONDO:0035614 sporadic fatal insomnia skos:broadMatch ICD10CM:A81.9 Atypical virus infection of central nervous system, unspecified semapv:UnspecifiedMatching MONDO:0035614 sporadic fatal insomnia skos:exactMatch MEDGEN:1799312 semapv:UnspecifiedMatching MONDO:0035614 sporadic fatal insomnia skos:exactMatch Orphanet:586130 Sporadic fatal insomnia semapv:UnspecifiedMatching MONDO:0035614 sporadic fatal insomnia skos:exactMatch UMLS:C5567889 semapv:UnspecifiedMatching MONDO:0035639 mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) skos:broadMatch ICD10CM:C92.7 semapv:UnspecifiedMatching MONDO:0035639 mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) skos:exactMatch MEDGEN:414807 semapv:UnspecifiedMatching MONDO:0035639 mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) skos:exactMatch Orphanet:589534 Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) semapv:UnspecifiedMatching MONDO:0035639 mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) skos:exactMatch UMLS:C2826037 semapv:UnspecifiedMatching MONDO:0035642 mixed phenotype acute leukemia with t(v;11q23.3) skos:broadMatch ICD10CM:C92.6 Acute myeloid leukemia with 11q23-abnormality semapv:UnspecifiedMatching MONDO:0035642 mixed phenotype acute leukemia with t(v;11q23.3) skos:exactMatch MEDGEN:443130 semapv:UnspecifiedMatching MONDO:0035642 mixed phenotype acute leukemia with t(v;11q23.3) skos:exactMatch NCIT:C82203 Mixed Phenotype Acute Leukemia with KMT2A Rearrangement semapv:UnspecifiedMatching MONDO:0035642 mixed phenotype acute leukemia with t(v;11q23.3) skos:exactMatch Orphanet:589595 Mixed phenotype acute leukemia with t(v;11q23.3) semapv:UnspecifiedMatching MONDO:0035642 mixed phenotype acute leukemia with t(v;11q23.3) skos:exactMatch UMLS:C2826048 semapv:UnspecifiedMatching MONDO:0035645 obsolete inherited gynecological cancer-predisposing syndrome skos:exactMatch Orphanet:589746 Inherited gynecological cancer-predisposing syndrome semapv:UnspecifiedMatching MONDO:0035646 congenital-onset Steinert myotonic dystrophy skos:broadMatch ICD10CM:G71.1 Myotonic disorders semapv:UnspecifiedMatching MONDO:0035646 congenital-onset Steinert myotonic dystrophy skos:exactMatch Orphanet:589821 Congenital-onset Steinert myotonic dystrophy semapv:UnspecifiedMatching MONDO:0035647 childhood-onset Steinert myotonic dystrophy skos:broadMatch ICD10CM:G71.1 Myotonic disorders semapv:UnspecifiedMatching MONDO:0035647 childhood-onset Steinert myotonic dystrophy skos:exactMatch MEDGEN:1842487 semapv:UnspecifiedMatching MONDO:0035647 childhood-onset Steinert myotonic dystrophy skos:exactMatch Orphanet:589824 Childhood-onset Steinert myotonic dystrophy semapv:UnspecifiedMatching MONDO:0035647 childhood-onset Steinert myotonic dystrophy skos:exactMatch UMLS:C5680307 semapv:UnspecifiedMatching MONDO:0035648 juvenile-onset Steinert myotonic dystrophy skos:broadMatch ICD10CM:G71.1 Myotonic disorders semapv:UnspecifiedMatching MONDO:0035648 juvenile-onset Steinert myotonic dystrophy skos:exactMatch MEDGEN:1843227 semapv:UnspecifiedMatching MONDO:0035648 juvenile-onset Steinert myotonic dystrophy skos:exactMatch Orphanet:589827 Juvenile-onset Steinert myotonic dystrophy semapv:UnspecifiedMatching MONDO:0035648 juvenile-onset Steinert myotonic dystrophy skos:exactMatch UMLS:C5680306 semapv:UnspecifiedMatching MONDO:0035649 adult-onset Steinert myotonic dystrophy skos:broadMatch ICD10CM:G71.1 Myotonic disorders semapv:UnspecifiedMatching MONDO:0035649 adult-onset Steinert myotonic dystrophy skos:exactMatch MEDGEN:1843180 semapv:UnspecifiedMatching MONDO:0035649 adult-onset Steinert myotonic dystrophy skos:exactMatch Orphanet:589830 Adult-onset Steinert myotonic dystrophy semapv:UnspecifiedMatching MONDO:0035649 adult-onset Steinert myotonic dystrophy skos:exactMatch UMLS:C5680309 semapv:UnspecifiedMatching MONDO:0035650 late-onset Steinert myotonic dystrophy skos:broadMatch ICD10CM:G71.1 Myotonic disorders semapv:UnspecifiedMatching MONDO:0035650 late-onset Steinert myotonic dystrophy skos:exactMatch MEDGEN:1842603 semapv:UnspecifiedMatching MONDO:0035650 late-onset Steinert myotonic dystrophy skos:exactMatch Orphanet:589833 Late-onset Steinert myotonic dystrophy semapv:UnspecifiedMatching MONDO:0035650 late-onset Steinert myotonic dystrophy skos:exactMatch UMLS:C5680308 semapv:UnspecifiedMatching MONDO:0035651 choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome skos:exactMatch MEDGEN:1830104 semapv:UnspecifiedMatching MONDO:0035651 choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome skos:exactMatch OMIM:620186 branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome semapv:UnspecifiedMatching MONDO:0035651 choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome skos:exactMatch Orphanet:589856 Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome semapv:UnspecifiedMatching MONDO:0035651 choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome skos:exactMatch UMLS:C5680310 semapv:UnspecifiedMatching MONDO:0035663 neuromyelitis optica spectrum disorder with anti-AQP4 antibodies skos:exactMatch MEDGEN:1842475 semapv:UnspecifiedMatching MONDO:0035663 neuromyelitis optica spectrum disorder with anti-AQP4 antibodies skos:exactMatch Orphanet:592850 Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies semapv:UnspecifiedMatching MONDO:0035663 neuromyelitis optica spectrum disorder with anti-AQP4 antibodies skos:exactMatch UMLS:C5680295 semapv:UnspecifiedMatching MONDO:0035663 neuromyelitis optica spectrum disorder with anti-AQP4 antibodies skos:exactMatch icd11.foundation:73324466 Neuromyelitis optica aquaporin-4 antibody positive semapv:UnspecifiedMatching MONDO:0035664 neuromyelitis optica spectrum disorder with anti-MOG antibodies skos:exactMatch MEDGEN:1843203 semapv:UnspecifiedMatching MONDO:0035664 neuromyelitis optica spectrum disorder with anti-MOG antibodies skos:exactMatch Orphanet:592856 Neuromyelitis optica spectrum disorder with anti-MOG antibodies semapv:UnspecifiedMatching MONDO:0035664 neuromyelitis optica spectrum disorder with anti-MOG antibodies skos:exactMatch UMLS:C5680296 semapv:UnspecifiedMatching MONDO:0035664 neuromyelitis optica spectrum disorder with anti-MOG antibodies skos:exactMatch icd11.foundation:605048789 Neuromyelitis optica myelin oligodendrocyte glycoprotein antibody-positive semapv:UnspecifiedMatching MONDO:0035665 neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies skos:exactMatch MEDGEN:1842615 semapv:UnspecifiedMatching MONDO:0035665 neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies skos:exactMatch Orphanet:592869 Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies semapv:UnspecifiedMatching MONDO:0035665 neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies skos:exactMatch UMLS:C5680297 semapv:UnspecifiedMatching MONDO:0035666 acute transverse myelitis with anti-MOG antibodies skos:broadMatch ICD10CM:G37.3 Acute transverse myelitis in demyelinating disease of central nervous system semapv:UnspecifiedMatching MONDO:0035666 acute transverse myelitis with anti-MOG antibodies skos:exactMatch MEDGEN:1842662 semapv:UnspecifiedMatching MONDO:0035666 acute transverse myelitis with anti-MOG antibodies skos:exactMatch Orphanet:592873 Acute transverse myelitis with anti-MOG antibodies semapv:UnspecifiedMatching MONDO:0035666 acute transverse myelitis with anti-MOG antibodies skos:exactMatch UMLS:C5680298 semapv:UnspecifiedMatching MONDO:0035669 acute disseminated encephalomyelitis with anti-MOG antibodies skos:broadMatch ICD10CM:G04.0 Acute disseminated encephalitis and encephalomyelitis (ADEM) semapv:UnspecifiedMatching MONDO:0035669 acute disseminated encephalomyelitis with anti-MOG antibodies skos:exactMatch MEDGEN:1842363 semapv:UnspecifiedMatching MONDO:0035669 acute disseminated encephalomyelitis with anti-MOG antibodies skos:exactMatch Orphanet:592894 Acute disseminated encephalomyelitis with anti-MOG antibodies semapv:UnspecifiedMatching MONDO:0035669 acute disseminated encephalomyelitis with anti-MOG antibodies skos:exactMatch UMLS:C5680301 semapv:UnspecifiedMatching MONDO:0035670 acute disseminated encephalomyelitis without anti-MOG antibodies skos:broadMatch ICD10CM:G04.0 Acute disseminated encephalitis and encephalomyelitis (ADEM) semapv:UnspecifiedMatching MONDO:0035670 acute disseminated encephalomyelitis without anti-MOG antibodies skos:exactMatch MEDGEN:1843027 semapv:UnspecifiedMatching MONDO:0035670 acute disseminated encephalomyelitis without anti-MOG antibodies skos:exactMatch Orphanet:592900 Acute disseminated encephalomyelitis without anti-MOG antibodies semapv:UnspecifiedMatching MONDO:0035670 acute disseminated encephalomyelitis without anti-MOG antibodies skos:exactMatch UMLS:C5680302 semapv:UnspecifiedMatching MONDO:0035678 Timothy syndrome type 1 skos:broadMatch ICD10CM:I49.8 Other specified cardiac arrhythmias semapv:UnspecifiedMatching MONDO:0035678 Timothy syndrome type 1 skos:exactMatch MEDGEN:1802409 semapv:UnspecifiedMatching MONDO:0035678 Timothy syndrome type 1 skos:exactMatch Orphanet:595098 Timothy syndrome type 1 semapv:UnspecifiedMatching MONDO:0035678 Timothy syndrome type 1 skos:exactMatch UMLS:C5574939 semapv:UnspecifiedMatching MONDO:0035679 Timothy syndrome type 2 skos:broadMatch ICD10CM:I49.8 Other specified cardiac arrhythmias semapv:UnspecifiedMatching MONDO:0035679 Timothy syndrome type 2 skos:exactMatch MEDGEN:930016 semapv:UnspecifiedMatching MONDO:0035679 Timothy syndrome type 2 skos:exactMatch Orphanet:595105 Timothy syndrome type 2 semapv:UnspecifiedMatching MONDO:0035679 Timothy syndrome type 2 skos:exactMatch UMLS:C4304347 semapv:UnspecifiedMatching MONDO:0035682 obsolete fibrous dysplasia/McCune-Albright syndrome skos:exactMatch Orphanet:595216 Fibrous dysplasia/McCune-Albright syndrome semapv:UnspecifiedMatching MONDO:0035683 obsolete adrenal hypoplasia congenita skos:exactMatch Orphanet:595337 Adrenal hypoplasia congenita semapv:UnspecifiedMatching MONDO:0035684 obsolete epidermolysis bullosa simplex without extracutaneous involvement skos:exactMatch Orphanet:595346 Epidermolysis bullosa simplex without extracutaneous involvement semapv:UnspecifiedMatching MONDO:0035685 obsolete epidermolysis bullosa simplex with extracutaneous involvement skos:exactMatch Orphanet:595351 Epidermolysis bullosa simplex with extracutaneous involvement semapv:UnspecifiedMatching MONDO:0035689 obsolete syndrome of reduced sensitivity to thyroid hormone skos:exactMatch Orphanet:596426 Syndrome of reduced sensitivity to thyroid hormone semapv:UnspecifiedMatching MONDO:0035694 combined immunodeficiency due to RELA haploinsufficiency skos:exactMatch MEDGEN:1843216 semapv:UnspecifiedMatching MONDO:0035694 combined immunodeficiency due to RELA haploinsufficiency skos:exactMatch Orphanet:596759 Combined immunodeficiency due to RELA haploinsufficiency semapv:UnspecifiedMatching MONDO:0035694 combined immunodeficiency due to RELA haploinsufficiency skos:exactMatch UMLS:C5680288 semapv:UnspecifiedMatching MONDO:0035696 incomplete septal cirrhosis skos:broadMatch ICD10CM:K74.6 Other and unspecified cirrhosis of liver semapv:UnspecifiedMatching MONDO:0035696 incomplete septal cirrhosis skos:exactMatch MEDGEN:1387804 semapv:UnspecifiedMatching MONDO:0035696 incomplete septal cirrhosis skos:exactMatch Orphanet:596941 Incomplete septal cirrhosis semapv:UnspecifiedMatching MONDO:0035696 incomplete septal cirrhosis skos:exactMatch UMLS:C0544815 semapv:UnspecifiedMatching MONDO:0035706 SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome skos:exactMatch MEDGEN:1843293 semapv:UnspecifiedMatching MONDO:0035706 SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome skos:exactMatch Orphanet:597743 SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome semapv:UnspecifiedMatching MONDO:0035706 SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome skos:exactMatch UMLS:C5681587 semapv:UnspecifiedMatching MONDO:0035707 blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome skos:exactMatch MEDGEN:1842711 semapv:UnspecifiedMatching MONDO:0035707 blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome skos:exactMatch Orphanet:597746 Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome semapv:UnspecifiedMatching MONDO:0035707 blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome skos:exactMatch UMLS:C5681588 semapv:UnspecifiedMatching MONDO:0035734 hereditary angioedema with normal C1inh not related to F12 or PLG variant skos:exactMatch MEDGEN:1843147 semapv:UnspecifiedMatching MONDO:0035734 hereditary angioedema with normal C1inh not related to F12 or PLG variant skos:exactMatch Orphanet:599418 Hereditary angioedema with normal C1Inh not related to F12 or PLG variant semapv:UnspecifiedMatching MONDO:0035734 hereditary angioedema with normal C1inh not related to F12 or PLG variant skos:exactMatch UMLS:C5681601 semapv:UnspecifiedMatching MONDO:0035735 acquired hemophilia A skos:exactMatch MEDGEN:124426 semapv:UnspecifiedMatching MONDO:0035735 acquired hemophilia A skos:exactMatch NCIT:C35345 Acquired Factor VIII Deficiency semapv:UnspecifiedMatching MONDO:0035735 acquired hemophilia A skos:exactMatch Orphanet:599480 Acquired hemophilia A semapv:UnspecifiedMatching MONDO:0035735 acquired hemophilia A skos:exactMatch UMLS:C0272325 semapv:UnspecifiedMatching MONDO:0035735 acquired hemophilia A skos:exactMatch mesh:C536392 semapv:UnspecifiedMatching MONDO:0035736 acquired hemophilia B skos:exactMatch MEDGEN:98305 semapv:UnspecifiedMatching MONDO:0035736 acquired hemophilia B skos:exactMatch Orphanet:599485 Acquired hemophilia B semapv:UnspecifiedMatching MONDO:0035736 acquired hemophilia B skos:exactMatch UMLS:C0398609 semapv:UnspecifiedMatching MONDO:0035737 acquired factor V deficiency skos:exactMatch MEDGEN:1380582 semapv:UnspecifiedMatching MONDO:0035737 acquired factor V deficiency skos:exactMatch NCIT:C131624 Acquired Factor V Deficiency semapv:UnspecifiedMatching MONDO:0035737 acquired factor V deficiency skos:exactMatch Orphanet:599490 Acquired factor V deficiency semapv:UnspecifiedMatching MONDO:0035737 acquired factor V deficiency skos:exactMatch UMLS:C4329256 semapv:UnspecifiedMatching MONDO:0035737 acquired factor V deficiency skos:exactMatch icd11.foundation:99894028 Acquired factor V deficiency semapv:UnspecifiedMatching MONDO:0035738 acquired factor VII deficiency skos:exactMatch MEDGEN:1388639 semapv:UnspecifiedMatching MONDO:0035738 acquired factor VII deficiency skos:exactMatch NCIT:C131625 Acquired Factor VII Deficiency semapv:UnspecifiedMatching MONDO:0035738 acquired factor VII deficiency skos:exactMatch Orphanet:599495 Acquired factor VII deficiency semapv:UnspecifiedMatching MONDO:0035738 acquired factor VII deficiency skos:exactMatch UMLS:C4331989 semapv:UnspecifiedMatching MONDO:0035740 acquired factor XI deficiency skos:exactMatch MEDGEN:1376431 semapv:UnspecifiedMatching MONDO:0035740 acquired factor XI deficiency skos:exactMatch NCIT:C131627 Acquired Factor XI Deficiency semapv:UnspecifiedMatching MONDO:0035740 acquired factor XI deficiency skos:exactMatch Orphanet:599507 Acquired factor XI deficiency semapv:UnspecifiedMatching MONDO:0035740 acquired factor XI deficiency skos:exactMatch UMLS:C4329257 semapv:UnspecifiedMatching MONDO:0035742 factor V short isoforms-related bleeding disorder skos:exactMatch MEDGEN:1843125 semapv:UnspecifiedMatching MONDO:0035742 factor V short isoforms-related bleeding disorder skos:exactMatch Orphanet:599519 Factor V short isoforms-related bleeding disorder semapv:UnspecifiedMatching MONDO:0035742 factor V short isoforms-related bleeding disorder skos:exactMatch UMLS:C5680279 semapv:UnspecifiedMatching MONDO:0035743 factor V amsterdam bleeding disorder skos:exactMatch MEDGEN:1842961 semapv:UnspecifiedMatching MONDO:0035743 factor V amsterdam bleeding disorder skos:exactMatch Orphanet:599579 Factor V Amsterdam bleeding disorder semapv:UnspecifiedMatching MONDO:0035743 factor V amsterdam bleeding disorder skos:exactMatch UMLS:C5681605 semapv:UnspecifiedMatching MONDO:0035759 factor V atlanta bleeding disorder skos:exactMatch MEDGEN:1842929 semapv:UnspecifiedMatching MONDO:0035759 factor V atlanta bleeding disorder skos:exactMatch Orphanet:600194 Factor V Atlanta bleeding disorder semapv:UnspecifiedMatching MONDO:0035759 factor V atlanta bleeding disorder skos:exactMatch UMLS:C5681543 semapv:UnspecifiedMatching MONDO:0035763 idiopathic non-lupus full-house nephropathy skos:exactMatch MEDGEN:1830099 semapv:UnspecifiedMatching MONDO:0035763 idiopathic non-lupus full-house nephropathy skos:exactMatch Orphanet:567544 Idiopathic non-lupus full-house nephropathy semapv:UnspecifiedMatching MONDO:0035763 idiopathic non-lupus full-house nephropathy skos:exactMatch UMLS:C5680132 semapv:UnspecifiedMatching MONDO:0035764 idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance skos:exactMatch MEDGEN:1830098 semapv:UnspecifiedMatching MONDO:0035764 idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance skos:exactMatch Orphanet:567546 Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance semapv:UnspecifiedMatching MONDO:0035764 idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance skos:exactMatch UMLS:C5680131 semapv:UnspecifiedMatching MONDO:0035775 CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome skos:exactMatch MEDGEN:1842919 semapv:UnspecifiedMatching MONDO:0035775 CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome skos:exactMatch Orphanet:600668 CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome semapv:UnspecifiedMatching MONDO:0035775 CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome skos:exactMatch UMLS:C5681527 semapv:UnspecifiedMatching MONDO:0035776 combined deficiency of factor VII and factor X skos:exactMatch MEDGEN:1843297 semapv:UnspecifiedMatching MONDO:0035776 combined deficiency of factor VII and factor X skos:exactMatch Orphanet:600691 Combined deficiency of factor VII and factor X semapv:UnspecifiedMatching MONDO:0035776 combined deficiency of factor VII and factor X skos:exactMatch UMLS:C5681529 semapv:UnspecifiedMatching MONDO:0035777 parenteral nutrition-associated cholestasis skos:exactMatch MEDGEN:475934 semapv:UnspecifiedMatching MONDO:0035777 parenteral nutrition-associated cholestasis skos:exactMatch Orphanet:567983 Parenteral nutrition-associated cholestasis semapv:UnspecifiedMatching MONDO:0035777 parenteral nutrition-associated cholestasis skos:exactMatch UMLS:C3274301 semapv:UnspecifiedMatching MONDO:0035777 parenteral nutrition-associated cholestasis skos:exactMatch icd11.foundation:1572634308 Cholestasis of parenteral nutrition semapv:UnspecifiedMatching MONDO:0035780 obsolete non-syndromic anorectal malformation with perineal fistula skos:exactMatch Orphanet:600952 Non-syndromic perineal fistula semapv:UnspecifiedMatching MONDO:0035781 obsolete non-syndromic anorectal malformation with rectourethral fistula skos:exactMatch Orphanet:600961 Non-syndromic rectourethral fistula semapv:UnspecifiedMatching MONDO:0035782 non-syndromic anorectal malformation with rectourethral fistula, bulbar type skos:exactMatch MEDGEN:1843309 semapv:UnspecifiedMatching MONDO:0035782 non-syndromic anorectal malformation with rectourethral fistula, bulbar type skos:exactMatch Orphanet:600966 Non-syndromic rectourethral fistula, bulbar type semapv:UnspecifiedMatching MONDO:0035782 non-syndromic anorectal malformation with rectourethral fistula, bulbar type skos:exactMatch UMLS:C5680243 semapv:UnspecifiedMatching MONDO:0035783 non-syndromic anorectal malformation with rectourethral fistula, prostatic type skos:exactMatch MEDGEN:1842166 semapv:UnspecifiedMatching MONDO:0035783 non-syndromic anorectal malformation with rectourethral fistula, prostatic type skos:exactMatch Orphanet:600975 Non-syndromic rectourethral fistula, prostatic type semapv:UnspecifiedMatching MONDO:0035783 non-syndromic anorectal malformation with rectourethral fistula, prostatic type skos:exactMatch UMLS:C5680242 semapv:UnspecifiedMatching MONDO:0035784 obsolete non-syndromic anorectal malformation with rectovesical fistula skos:exactMatch Orphanet:600984 Non-syndromic rectovesical fistula semapv:UnspecifiedMatching MONDO:0035785 obsolete non-syndromic anorectal malformation with vestibular fistula skos:exactMatch Orphanet:600993 Non-syndromic vestibular fistula semapv:UnspecifiedMatching MONDO:0035786 obsolete non-syndromic cloacal malformation skos:exactMatch Orphanet:600998 Non-syndromic cloacal malformation semapv:UnspecifiedMatching MONDO:0035787 obsolete non-syndromic anorectal malformation without fistula skos:exactMatch Orphanet:601002 Non-syndromic anorectal malformation without fistula semapv:UnspecifiedMatching MONDO:0035788 obsolete non-syndromic anorectal malformation with anal stenosis skos:exactMatch Orphanet:601008 Non-syndromic anal stenosis semapv:UnspecifiedMatching MONDO:0035789 obsolete non-syndromic anorectal malformation with pouch colon skos:exactMatch Orphanet:601013 Non-syndromic pouch colon semapv:UnspecifiedMatching MONDO:0035790 obsolete non-syndromic anorectal malformation with rectal atresia skos:exactMatch Orphanet:601018 Non-syndromic rectal atresia semapv:UnspecifiedMatching MONDO:0035791 obsolete non-syndromic anorectal malformation with rectal stenosis skos:exactMatch Orphanet:601023 Non-syndromic rectal stenosis semapv:UnspecifiedMatching MONDO:0035792 obsolete non-syndromic anorectal malformation with rectovaginal fistula skos:exactMatch Orphanet:601028 Non-syndromic rectovaginal fistula semapv:UnspecifiedMatching MONDO:0035793 obsolete non-syndromic anorectal malformation with h-type fistula skos:exactMatch Orphanet:601033 Non-syndromic H-type fistula semapv:UnspecifiedMatching MONDO:0035819 cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome skos:exactMatch MEDGEN:1780242 semapv:UnspecifiedMatching MONDO:0035819 cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome skos:exactMatch OMIM:619273 CIMDAG syndrome semapv:UnspecifiedMatching MONDO:0035819 cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome skos:exactMatch Orphanet:603448 Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome semapv:UnspecifiedMatching MONDO:0035819 cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome skos:exactMatch UMLS:C5543287 semapv:UnspecifiedMatching MONDO:0035821 isolated female hypospadias skos:exactMatch MEDGEN:1842898 semapv:UnspecifiedMatching MONDO:0035821 isolated female hypospadias skos:exactMatch Orphanet:603515 Isolated female hypospadias semapv:UnspecifiedMatching MONDO:0035821 isolated female hypospadias skos:exactMatch UMLS:C5681495 semapv:UnspecifiedMatching MONDO:0035823 KLHL7-related Bohring-Opitz-like syndrome skos:exactMatch MEDGEN:1842955 semapv:UnspecifiedMatching MONDO:0035823 KLHL7-related Bohring-Opitz-like syndrome skos:exactMatch Orphanet:603689 KLHL7-related Bohring-Opitz-like syndrome semapv:UnspecifiedMatching MONDO:0035823 KLHL7-related Bohring-Opitz-like syndrome skos:exactMatch UMLS:C5680210 semapv:UnspecifiedMatching MONDO:0035824 KLHL7-related cold-induced sweating-like syndrome skos:exactMatch MEDGEN:1842368 semapv:UnspecifiedMatching MONDO:0035824 KLHL7-related cold-induced sweating-like syndrome skos:exactMatch Orphanet:603694 KLHL7-related Crisponi/cold-induced sweating-like syndrome semapv:UnspecifiedMatching MONDO:0035824 KLHL7-related cold-induced sweating-like syndrome skos:exactMatch UMLS:C5680211 semapv:UnspecifiedMatching MONDO:0035826 symptomatic form of X-linked centronuclear myopathy in female carriers skos:exactMatch MEDGEN:1842761 semapv:UnspecifiedMatching MONDO:0035826 symptomatic form of X-linked centronuclear myopathy in female carriers skos:exactMatch Orphanet:604680 Symptomatic form of X-linked centronuclear myopathy in female carriers semapv:UnspecifiedMatching MONDO:0035826 symptomatic form of X-linked centronuclear myopathy in female carriers skos:exactMatch UMLS:C5680221 semapv:UnspecifiedMatching MONDO:0035838 idiopathic multicentric Castleman disease skos:exactMatch MEDGEN:1680858 semapv:UnspecifiedMatching MONDO:0035838 idiopathic multicentric Castleman disease skos:exactMatch Orphanet:570431 Idiopathic multicentric Castleman disease semapv:UnspecifiedMatching MONDO:0035838 idiopathic multicentric Castleman disease skos:exactMatch UMLS:C5197665 semapv:UnspecifiedMatching MONDO:0035862 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome skos:exactMatch Orphanet:611314 Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome semapv:UnspecifiedMatching MONDO:0035863 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability skos:exactMatch Orphanet:611327 Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability semapv:UnspecifiedMatching MONDO:0035875 ivermectin toxicity skos:exactMatch Orphanet:574637 semapv:UnspecifiedMatching MONDO:0035876 belinostat toxicity or dose selection skos:exactMatch Orphanet:574671 semapv:UnspecifiedMatching MONDO:0035879 granuloma faciale skos:exactMatch ICD10CM:L92.2 Granuloma faciale [eosinophilic granuloma of skin] semapv:UnspecifiedMatching MONDO:0035879 granuloma faciale skos:exactMatch MEDGEN:536904 semapv:UnspecifiedMatching MONDO:0035879 granuloma faciale skos:exactMatch Orphanet:615943 Granuloma faciale semapv:UnspecifiedMatching MONDO:0035879 granuloma faciale skos:exactMatch UMLS:C0239495 semapv:UnspecifiedMatching MONDO:0035879 granuloma faciale skos:exactMatch icd11.foundation:1663072571 Granuloma faciale semapv:UnspecifiedMatching MONDO:0035882 chronic intervillositis of unknown etiology skos:exactMatch MEDGEN:1842235 semapv:UnspecifiedMatching MONDO:0035882 chronic intervillositis of unknown etiology skos:exactMatch Orphanet:615970 Chronic intervillositis of unknown etiology semapv:UnspecifiedMatching MONDO:0035882 chronic intervillositis of unknown etiology skos:exactMatch UMLS:C5680386 semapv:UnspecifiedMatching MONDO:0035892 Mills syndrome skos:exactMatch MEDGEN:1682801 semapv:UnspecifiedMatching MONDO:0035892 Mills syndrome skos:exactMatch Orphanet:94091 Mills syndrome semapv:UnspecifiedMatching MONDO:0035892 Mills syndrome skos:exactMatch UMLS:C5191669 semapv:UnspecifiedMatching MONDO:0035930 neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency skos:exactMatch MEDGEN:1843313 semapv:UnspecifiedMatching MONDO:0035930 neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency skos:exactMatch Orphanet:583612 Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency semapv:UnspecifiedMatching MONDO:0035930 neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency skos:exactMatch UMLS:C5680338 semapv:UnspecifiedMatching MONDO:0035940 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) skos:exactMatch DOID:0080643 B-lymphoblastic leukemia/lymphoma with BCR-ABL1 semapv:UnspecifiedMatching MONDO:0035940 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) skos:exactMatch MEDGEN:1842992 semapv:UnspecifiedMatching MONDO:0035940 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) skos:exactMatch NCIT:C80331 B Lymphoblastic Leukemia/Lymphoma with t(9;22)(q34.1;q11.2); BCR-ABL1 semapv:UnspecifiedMatching MONDO:0035940 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) skos:exactMatch Orphanet:585909 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) semapv:UnspecifiedMatching MONDO:0035940 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) skos:exactMatch UMLS:C5680319 semapv:UnspecifiedMatching MONDO:0035940 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) skos:exactMatch icd11.foundation:381281608 B lymphoblastic leukaemia or lymphoma with t(9:22) (q34;q11.2); BCR-ABL1 semapv:UnspecifiedMatching MONDO:0035941 B-lymphoblastic leukemia/lymphoma with t(v;11q23.3) skos:exactMatch NCIT:C80332 B Lymphoblastic Leukemia/Lymphoma with t(v;11q23.3); KMT2A Rearranged semapv:UnspecifiedMatching MONDO:0035941 B-lymphoblastic leukemia/lymphoma with t(v;11q23.3) skos:exactMatch Orphanet:585918 B-lymphoblastic leukemia/lymphoma with t(v;11q23.3) semapv:UnspecifiedMatching MONDO:0035942 B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) skos:exactMatch NCIT:C80334 B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1 semapv:UnspecifiedMatching MONDO:0035942 B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) skos:exactMatch Orphanet:585929 B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) semapv:UnspecifiedMatching MONDO:0035943 B-lymphoblastic leukemia/lymphoma with hyperdiploidy skos:exactMatch DOID:0080646 B-lymphoblastic leukemia/lymphoma with hyperdiploidy semapv:UnspecifiedMatching MONDO:0035943 B-lymphoblastic leukemia/lymphoma with hyperdiploidy skos:exactMatch MEDGEN:397154 semapv:UnspecifiedMatching MONDO:0035943 B-lymphoblastic leukemia/lymphoma with hyperdiploidy skos:exactMatch NCIT:C80335 Hyperdiploid B Lymphoblastic Leukemia/Lymphoma semapv:UnspecifiedMatching MONDO:0035943 B-lymphoblastic leukemia/lymphoma with hyperdiploidy skos:exactMatch Orphanet:585936 B-lymphoblastic leukemia/lymphoma with hyperdiploidy semapv:UnspecifiedMatching MONDO:0035943 B-lymphoblastic leukemia/lymphoma with hyperdiploidy skos:exactMatch UMLS:C2698311 semapv:UnspecifiedMatching MONDO:0035944 B-lymphoblastic leukemia/lymphoma with hypodiploidy skos:exactMatch DOID:0080647 B-lymphoblastic leukemia/lymphoma with hypodiploidy semapv:UnspecifiedMatching MONDO:0035944 B-lymphoblastic leukemia/lymphoma with hypodiploidy skos:exactMatch MEDGEN:437498 semapv:UnspecifiedMatching MONDO:0035944 B-lymphoblastic leukemia/lymphoma with hypodiploidy skos:exactMatch NCIT:C80338 Hypodiploid B Lymphoblastic Leukemia/Lymphoma semapv:UnspecifiedMatching MONDO:0035944 B-lymphoblastic leukemia/lymphoma with hypodiploidy skos:exactMatch Orphanet:585942 B-lymphoblastic leukemia/lymphoma with hypodiploidy semapv:UnspecifiedMatching MONDO:0035944 B-lymphoblastic leukemia/lymphoma with hypodiploidy skos:exactMatch UMLS:C2698312 semapv:UnspecifiedMatching MONDO:0035945 B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) skos:exactMatch MEDGEN:396325 semapv:UnspecifiedMatching MONDO:0035945 B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) skos:exactMatch NCIT:C80340 B Lymphoblastic Leukemia/Lymphoma with t(5;14)(q31.1;q32.3); IL3-IGH semapv:UnspecifiedMatching MONDO:0035945 B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) skos:exactMatch Orphanet:585948 B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) semapv:UnspecifiedMatching MONDO:0035945 B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) skos:exactMatch UMLS:C2698316 semapv:UnspecifiedMatching MONDO:0036025 toxicity to dolutegravir skos:exactMatch Orphanet:596744 semapv:UnspecifiedMatching MONDO:0036042 KAT6B-related multiple congenital anomalies syndrome skos:exactMatch MEDGEN:1843234 semapv:UnspecifiedMatching MONDO:0036042 KAT6B-related multiple congenital anomalies syndrome skos:exactMatch Orphanet:597749 KAT6B-related multiple congenital anomalies syndrome semapv:UnspecifiedMatching MONDO:0036042 KAT6B-related multiple congenital anomalies syndrome skos:exactMatch UMLS:C5680266 semapv:UnspecifiedMatching MONDO:0036045 euthyroid dysprealbuminemic hyperthyroxinemia skos:exactMatch MEDGEN:1842463 semapv:UnspecifiedMatching MONDO:0036045 euthyroid dysprealbuminemic hyperthyroxinemia skos:exactMatch Orphanet:597939 Euthyroid dysprealbuminemic hyperthyroxinemia semapv:UnspecifiedMatching MONDO:0036045 euthyroid dysprealbuminemic hyperthyroxinemia skos:exactMatch UMLS:C5680265 semapv:UnspecifiedMatching MONDO:0036189 oculogastrointestinal-neurodevelopmental syndrome skos:exactMatch MEDGEN:1779113 semapv:UnspecifiedMatching MONDO:0036189 oculogastrointestinal-neurodevelopmental syndrome skos:exactMatch OMIM:619318 oculogastrointestinal neurodevelopmental syndrome semapv:UnspecifiedMatching MONDO:0036189 oculogastrointestinal-neurodevelopmental syndrome skos:exactMatch Orphanet:611201 Oculogastrointestinal-neurodevelopmental syndrome semapv:UnspecifiedMatching MONDO:0036189 oculogastrointestinal-neurodevelopmental syndrome skos:exactMatch UMLS:C5543355 semapv:UnspecifiedMatching MONDO:0036193 parkinsonism with polyneuropathy skos:exactMatch MEDGEN:1783451 semapv:UnspecifiedMatching MONDO:0036193 parkinsonism with polyneuropathy skos:exactMatch OMIM:619279 parkinsonism with polyneuropathy semapv:UnspecifiedMatching MONDO:0036193 parkinsonism with polyneuropathy skos:exactMatch Orphanet:611237 Parkinsonism with polyneuropathy semapv:UnspecifiedMatching MONDO:0036193 parkinsonism with polyneuropathy skos:exactMatch UMLS:C5543299 semapv:UnspecifiedMatching MONDO:0036212 spastic paraparesis-cataracts-speech delay syndrome skos:exactMatch OMIM:619338 cataracts, spastic paraparesis, and speech delay semapv:UnspecifiedMatching MONDO:0036212 spastic paraparesis-cataracts-speech delay syndrome skos:exactMatch Orphanet:615938 Spastic paraparesis-cataracts-speech delay syndrome semapv:UnspecifiedMatching MONDO:0036217 lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation skos:exactMatch MEDGEN:1842868 semapv:UnspecifiedMatching MONDO:0036217 lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation skos:exactMatch Orphanet:615983 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation semapv:UnspecifiedMatching MONDO:0036217 lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation skos:exactMatch UMLS:C5681819 semapv:UnspecifiedMatching MONDO:0036218 lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster skos:exactMatch MEDGEN:1843311 semapv:UnspecifiedMatching MONDO:0036218 lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster skos:exactMatch Orphanet:615986 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster semapv:UnspecifiedMatching MONDO:0036218 lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster skos:exactMatch UMLS:C5680385 semapv:UnspecifiedMatching MONDO:0036482 retinitis pigmentosa 81 skos:exactMatch DOID:0080292 retinitis pigmentosa 81 semapv:UnspecifiedMatching MONDO:0036482 retinitis pigmentosa 81 skos:exactMatch MEDGEN:1637738 semapv:UnspecifiedMatching MONDO:0036482 retinitis pigmentosa 81 skos:exactMatch OMIM:617871 retinitis pigmentosa 81 semapv:UnspecifiedMatching MONDO:0036482 retinitis pigmentosa 81 skos:exactMatch UMLS:C4693443 semapv:UnspecifiedMatching MONDO:0036483 short-rib thoracic dysplasia 18 with polydactyly skos:exactMatch DOID:0080293 short-rib thoracic dysplasia 18 with polydactyly semapv:UnspecifiedMatching MONDO:0036483 short-rib thoracic dysplasia 18 with polydactyly skos:exactMatch MEDGEN:1632904 semapv:UnspecifiedMatching MONDO:0036483 short-rib thoracic dysplasia 18 with polydactyly skos:exactMatch OMIM:617866 short-rib thoracic dysplasia 18 with polydactyly semapv:UnspecifiedMatching MONDO:0036483 short-rib thoracic dysplasia 18 with polydactyly skos:exactMatch UMLS:C4693420 semapv:UnspecifiedMatching MONDO:0036484 Charcot-Marie-Tooth disease, dominant intermediate G skos:exactMatch DOID:0080294 Charcot-Marie-Tooth disease dominant intermediate G semapv:UnspecifiedMatching MONDO:0036484 Charcot-Marie-Tooth disease, dominant intermediate G skos:exactMatch MEDGEN:1642893 semapv:UnspecifiedMatching MONDO:0036484 Charcot-Marie-Tooth disease, dominant intermediate G skos:exactMatch OMIM:617882 charcot-marie-tooth disease, dominant intermediate g semapv:UnspecifiedMatching MONDO:0036484 Charcot-Marie-Tooth disease, dominant intermediate G skos:exactMatch UMLS:C4693509 semapv:UnspecifiedMatching MONDO:0036491 obsolete rare childhood malignant neoplasm skos:exactMatch NCIT:C114451 Rare Childhood Malignant Neoplasm semapv:UnspecifiedMatching MONDO:0036501 refractory malignant neoplasm skos:exactMatch MEDGEN:146772 semapv:UnspecifiedMatching MONDO:0036501 refractory malignant neoplasm skos:exactMatch NCIT:C120186 Refractory Malignant Neoplasm semapv:UnspecifiedMatching MONDO:0036501 refractory malignant neoplasm skos:exactMatch UMLS:C0677936 semapv:UnspecifiedMatching MONDO:0036511 childhood malignant kidney neoplasm skos:exactMatch MEDGEN:904186 semapv:UnspecifiedMatching MONDO:0036511 childhood malignant kidney neoplasm skos:exactMatch NCIT:C123907 Childhood Malignant Kidney Neoplasm semapv:UnspecifiedMatching MONDO:0036511 childhood malignant kidney neoplasm skos:exactMatch UMLS:C4086162 semapv:UnspecifiedMatching MONDO:0036591 adrenal cortex neoplasm skos:exactMatch MEDGEN:1350 semapv:UnspecifiedMatching MONDO:0036591 adrenal cortex neoplasm skos:exactMatch NCIT:C2858 Adrenal Cortical Neoplasm semapv:UnspecifiedMatching MONDO:0036591 adrenal cortex neoplasm skos:exactMatch UMLS:C0001618 semapv:UnspecifiedMatching MONDO:0036591 adrenal cortex neoplasm skos:exactMatch mesh:D000306 semapv:UnspecifiedMatching MONDO:0036595 ovarian Sertoli-Leydig cell tumor skos:exactMatch MEDGEN:2038 semapv:UnspecifiedMatching MONDO:0036595 ovarian Sertoli-Leydig cell tumor skos:exactMatch NCIT:C2880 Ovarian Sertoli-Leydig Cell Tumor semapv:UnspecifiedMatching MONDO:0036595 ovarian Sertoli-Leydig cell tumor skos:exactMatch SCTID:254866007 semapv:UnspecifiedMatching MONDO:0036595 ovarian Sertoli-Leydig cell tumor skos:exactMatch UMLS:C0003810 semapv:UnspecifiedMatching MONDO:0036688 rhabdomyoma skos:exactMatch MEDGEN:48445 semapv:UnspecifiedMatching MONDO:0036688 rhabdomyoma skos:exactMatch NCIT:C3358 Rhabdomyoma semapv:UnspecifiedMatching MONDO:0036688 rhabdomyoma skos:exactMatch SCTID:402877008 semapv:UnspecifiedMatching MONDO:0036688 rhabdomyoma skos:exactMatch UMLS:C0035411 semapv:UnspecifiedMatching MONDO:0036688 rhabdomyoma skos:exactMatch icd11.foundation:1253205675 Rhabdomyoma semapv:UnspecifiedMatching MONDO:0036688 rhabdomyoma skos:exactMatch mesh:D012207 semapv:UnspecifiedMatching MONDO:0036696 spleen neoplasm skos:exactMatch MEDGEN:21292 semapv:UnspecifiedMatching MONDO:0036696 spleen neoplasm skos:exactMatch NCIT:C3383 Splenic Neoplasm semapv:UnspecifiedMatching MONDO:0036696 spleen neoplasm skos:exactMatch UMLS:C0037999 semapv:UnspecifiedMatching MONDO:0036779 axillary neoplasm skos:exactMatch MEDGEN:266214 semapv:UnspecifiedMatching MONDO:0036779 axillary neoplasm skos:exactMatch NCIT:C35749 Axillary Neoplasm semapv:UnspecifiedMatching MONDO:0036779 axillary neoplasm skos:exactMatch SCTID:126639006 semapv:UnspecifiedMatching MONDO:0036779 axillary neoplasm skos:exactMatch UMLS:C1290308 semapv:UnspecifiedMatching MONDO:0036781 benign axillary neoplasm skos:exactMatch MEDGEN:146338 semapv:UnspecifiedMatching MONDO:0036781 benign axillary neoplasm skos:exactMatch NCIT:C35750 Benign Axillary Neoplasm semapv:UnspecifiedMatching MONDO:0036781 benign axillary neoplasm skos:exactMatch UMLS:C0684828 semapv:UnspecifiedMatching MONDO:0036870 lymphatic vessel neoplasm skos:exactMatch MEDGEN:1857625 semapv:UnspecifiedMatching MONDO:0036870 lymphatic vessel neoplasm skos:exactMatch NCIT:C3723 Lymphatic Vessel Neoplasm semapv:UnspecifiedMatching MONDO:0036870 lymphatic vessel neoplasm skos:exactMatch UMLS:C2103272 semapv:UnspecifiedMatching MONDO:0036915 benign ovarian mucinous tumor skos:exactMatch MEDGEN:267038 semapv:UnspecifiedMatching MONDO:0036915 benign ovarian mucinous tumor skos:exactMatch NCIT:C40039 Benign Ovarian Mucinous Tumor semapv:UnspecifiedMatching MONDO:0036915 benign ovarian mucinous tumor skos:exactMatch UMLS:C1511100 semapv:UnspecifiedMatching MONDO:0036918 punctate acrokeratoderma freckle-like pigmentation skos:exactMatch MEDGEN:1814481 semapv:UnspecifiedMatching MONDO:0036918 punctate acrokeratoderma freckle-like pigmentation skos:exactMatch Orphanet:99710 Punctate acrokeratoderma freckle-like pigmentation semapv:UnspecifiedMatching MONDO:0036918 punctate acrokeratoderma freckle-like pigmentation skos:exactMatch UMLS:C5681635 semapv:UnspecifiedMatching MONDO:0036976 benign epithelial neoplasm skos:exactMatch MEDGEN:90747 semapv:UnspecifiedMatching MONDO:0036976 benign epithelial neoplasm skos:exactMatch NCIT:C4092 Benign Epithelial Neoplasm semapv:UnspecifiedMatching MONDO:0036976 benign epithelial neoplasm skos:exactMatch UMLS:C0334232 semapv:UnspecifiedMatching MONDO:0036990 benign Leydig cell tumor skos:exactMatch MEDGEN:83142 semapv:UnspecifiedMatching MONDO:0036990 benign Leydig cell tumor skos:exactMatch NCIT:C4212 Benign Leydig Cell Tumor semapv:UnspecifiedMatching MONDO:0036990 benign Leydig cell tumor skos:exactMatch UMLS:C0334409 semapv:UnspecifiedMatching MONDO:0037002 benign phyllodes tumor skos:exactMatch MEDGEN:87254 semapv:UnspecifiedMatching MONDO:0037002 benign phyllodes tumor skos:exactMatch NCIT:C4274 Benign Phyllodes Tumor semapv:UnspecifiedMatching MONDO:0037002 benign phyllodes tumor skos:exactMatch UMLS:C0334501 semapv:UnspecifiedMatching MONDO:0037003 malignant phyllodes tumor skos:exactMatch MEDGEN:109372 semapv:UnspecifiedMatching MONDO:0037003 malignant phyllodes tumor skos:exactMatch NCIT:C4275 Malignant Phyllodes Tumor semapv:UnspecifiedMatching MONDO:0037003 malignant phyllodes tumor skos:exactMatch UMLS:C0600066 semapv:UnspecifiedMatching MONDO:0037105 lung germ cell tumor skos:exactMatch MEDGEN:310947 semapv:UnspecifiedMatching MONDO:0037105 lung germ cell tumor skos:exactMatch NCIT:C45636 Lung Germ Cell Tumor semapv:UnspecifiedMatching MONDO:0037105 lung germ cell tumor skos:exactMatch UMLS:C1708771 semapv:UnspecifiedMatching MONDO:0037149 HSD10 disease, atypical type skos:exactMatch MEDGEN:1843277 semapv:UnspecifiedMatching MONDO:0037149 HSD10 disease, atypical type skos:exactMatch Orphanet:85295 HSD10 disease, atypical type semapv:UnspecifiedMatching MONDO:0037149 HSD10 disease, atypical type skos:exactMatch UMLS:C5680206 semapv:UnspecifiedMatching MONDO:0037250 childhood testicular neoplasm skos:exactMatch MEDGEN:272472 semapv:UnspecifiedMatching MONDO:0037250 childhood testicular neoplasm skos:exactMatch NCIT:C5053 Childhood Testicular Neoplasm semapv:UnspecifiedMatching MONDO:0037250 childhood testicular neoplasm skos:exactMatch UMLS:C1333010 semapv:UnspecifiedMatching MONDO:0037251 congestive splenomegaly skos:exactMatch MEDGEN:56339 semapv:UnspecifiedMatching MONDO:0037251 congestive splenomegaly skos:exactMatch SCTID:19058002 semapv:UnspecifiedMatching MONDO:0037251 congestive splenomegaly skos:exactMatch UMLS:C0154307 semapv:UnspecifiedMatching MONDO:0037251 congestive splenomegaly skos:exactMatch mesh:C537903 semapv:UnspecifiedMatching MONDO:0037252 thecoma skos:exactMatch MEDGEN:21505 semapv:UnspecifiedMatching MONDO:0037252 thecoma skos:exactMatch NCIT:C3405 Thecoma semapv:UnspecifiedMatching MONDO:0037252 thecoma skos:exactMatch UMLS:C0039747 semapv:UnspecifiedMatching MONDO:0037252 thecoma skos:exactMatch mesh:D013798 semapv:UnspecifiedMatching MONDO:0037253 ovarian thecoma skos:exactMatch MEDGEN:364155 semapv:UnspecifiedMatching MONDO:0037253 ovarian thecoma skos:exactMatch NCIT:C66989 Ovarian Thecoma semapv:UnspecifiedMatching MONDO:0037253 ovarian thecoma skos:exactMatch SCTID:254864005 semapv:UnspecifiedMatching MONDO:0037253 ovarian thecoma skos:exactMatch UMLS:C1882229 semapv:UnspecifiedMatching MONDO:0037254 transitional cell neoplasm skos:exactMatch MEDGEN:90754 semapv:UnspecifiedMatching MONDO:0037254 transitional cell neoplasm skos:exactMatch NCIT:C6783 Transitional Cell Neoplasm semapv:UnspecifiedMatching MONDO:0037254 transitional cell neoplasm skos:exactMatch UMLS:C0334265 semapv:UnspecifiedMatching MONDO:0037255 ovarian serous tumor skos:exactMatch MEDGEN:141653 semapv:UnspecifiedMatching MONDO:0037255 ovarian serous tumor skos:exactMatch NCIT:C8431 Ovarian Serous Tumor semapv:UnspecifiedMatching MONDO:0037255 ovarian serous tumor skos:exactMatch UMLS:C0476122 semapv:UnspecifiedMatching MONDO:0037256 serous neoplasm skos:exactMatch MEDGEN:233442 semapv:UnspecifiedMatching MONDO:0037256 serous neoplasm skos:exactMatch NCIT:C7074 Serous Neoplasm semapv:UnspecifiedMatching MONDO:0037256 serous neoplasm skos:exactMatch UMLS:C1335951 semapv:UnspecifiedMatching MONDO:0037398 pneumonia caused by pseudomonas aeruginosa infection skos:exactMatch MEDGEN:852026 semapv:UnspecifiedMatching MONDO:0037398 pneumonia caused by pseudomonas aeruginosa infection skos:exactMatch Orphanet:90066 Pneumonia caused by Pseudomonas aeruginosa infection semapv:UnspecifiedMatching MONDO:0037398 pneumonia caused by pseudomonas aeruginosa infection skos:exactMatch UMLS:C0920182 semapv:UnspecifiedMatching MONDO:0037398 pneumonia caused by pseudomonas aeruginosa infection skos:exactMatch icd11.foundation:801706385 Pneumonia due to Pseudomonas aeruginosa semapv:UnspecifiedMatching MONDO:0037716 obsolete rare genetic deafness skos:exactMatch Orphanet:96210 Rare genetic deafness semapv:UnspecifiedMatching MONDO:0037735 sebaceous gland cancer skos:exactMatch MEDGEN:235134 semapv:UnspecifiedMatching MONDO:0037735 sebaceous gland cancer skos:exactMatch NCIT:C8409 Malignant Sebaceous Gland Neoplasm semapv:UnspecifiedMatching MONDO:0037735 sebaceous gland cancer skos:exactMatch UMLS:C1382026 semapv:UnspecifiedMatching MONDO:0037736 infratentorial neoplasm skos:exactMatch MEDGEN:5803 semapv:UnspecifiedMatching MONDO:0037736 infratentorial neoplasm skos:exactMatch NCIT:C3139 Infratentorial Neoplasm semapv:UnspecifiedMatching MONDO:0037736 infratentorial neoplasm skos:exactMatch UMLS:C0021432 semapv:UnspecifiedMatching MONDO:0037737 peritoneal solitary fibrous tumor skos:exactMatch MEDGEN:925935 semapv:UnspecifiedMatching MONDO:0037737 peritoneal solitary fibrous tumor skos:exactMatch NCIT:C126357 Peritoneal Solitary Fibrous Tumor semapv:UnspecifiedMatching MONDO:0037737 peritoneal solitary fibrous tumor skos:exactMatch UMLS:C4288403 semapv:UnspecifiedMatching MONDO:0037738 cauda equina cancer skos:exactMatch ICD10CM:C72.1 Malignant neoplasm of cauda equina semapv:UnspecifiedMatching MONDO:0037738 cauda equina cancer skos:exactMatch MEDGEN:578608 semapv:UnspecifiedMatching MONDO:0037738 cauda equina cancer skos:exactMatch SCTID:363477002 semapv:UnspecifiedMatching MONDO:0037738 cauda equina cancer skos:exactMatch UMLS:C0349017 semapv:UnspecifiedMatching MONDO:0037738 cauda equina cancer skos:exactMatch icd11.foundation:2014841089 Malignant neoplasm of cauda equina semapv:UnspecifiedMatching MONDO:0037739 benign neoplasm of cauda equina skos:exactMatch MEDGEN:673271 semapv:UnspecifiedMatching MONDO:0037739 benign neoplasm of cauda equina skos:exactMatch SCTID:92047003 semapv:UnspecifiedMatching MONDO:0037739 benign neoplasm of cauda equina skos:exactMatch UMLS:C0686404 semapv:UnspecifiedMatching MONDO:0037739 benign neoplasm of cauda equina skos:exactMatch icd11.foundation:214796583 Benign neoplasm of cauda equina semapv:UnspecifiedMatching MONDO:0037740 malignant central nervous system mesenchymal, non-meningothelial neoplasm skos:exactMatch MEDGEN:233147 semapv:UnspecifiedMatching MONDO:0037740 malignant central nervous system mesenchymal, non-meningothelial neoplasm skos:exactMatch NCIT:C6758 Malignant Central Nervous System Mesenchymal, Non-Meningothelial Neoplasm semapv:UnspecifiedMatching MONDO:0037740 malignant central nervous system mesenchymal, non-meningothelial neoplasm skos:exactMatch UMLS:C1334571 semapv:UnspecifiedMatching MONDO:0037742 endometrioid stromal and related neoplasms skos:exactMatch MEDGEN:925400 semapv:UnspecifiedMatching MONDO:0037742 endometrioid stromal and related neoplasms skos:exactMatch NCIT:C8384 Endometrioid Stromal and Related Neoplasms semapv:UnspecifiedMatching MONDO:0037742 endometrioid stromal and related neoplasms skos:exactMatch UMLS:C4287868 semapv:UnspecifiedMatching MONDO:0037743 mediastinal soft tissue cancer skos:exactMatch MEDGEN:277335 semapv:UnspecifiedMatching MONDO:0037743 mediastinal soft tissue cancer skos:exactMatch NCIT:C6642 Malignant Mediastinal Soft Tissue Neoplasm semapv:UnspecifiedMatching MONDO:0037743 mediastinal soft tissue cancer skos:exactMatch UMLS:C1334599 semapv:UnspecifiedMatching MONDO:0037744 neoplasm of retromolar area skos:exactMatch MEDGEN:577022 semapv:UnspecifiedMatching MONDO:0037744 neoplasm of retromolar area skos:exactMatch SCTID:126804008 semapv:UnspecifiedMatching MONDO:0037744 neoplasm of retromolar area skos:exactMatch UMLS:C0345590 semapv:UnspecifiedMatching MONDO:0037745 fibromyxoid tumor skos:exactMatch MEDGEN:60023 semapv:UnspecifiedMatching MONDO:0037745 fibromyxoid tumor skos:exactMatch NCIT:C66760 Fibromyxoid Tumor semapv:UnspecifiedMatching MONDO:0037745 fibromyxoid tumor skos:exactMatch UMLS:C0205766 semapv:UnspecifiedMatching MONDO:0037746 malignant vaginal mixed epithelial and mesenchymal neoplasm skos:exactMatch MEDGEN:307683 semapv:UnspecifiedMatching MONDO:0037746 malignant vaginal mixed epithelial and mesenchymal neoplasm skos:exactMatch NCIT:C40276 Malignant Vaginal Mixed Epithelial and Mesenchymal Neoplasm semapv:UnspecifiedMatching MONDO:0037746 malignant vaginal mixed epithelial and mesenchymal neoplasm skos:exactMatch UMLS:C1512974 semapv:UnspecifiedMatching MONDO:0037747 spinal injury skos:exactMatch SCTID:262521009 semapv:UnspecifiedMatching MONDO:0037747 spinal injury skos:exactMatch mesh:D013124 semapv:UnspecifiedMatching MONDO:0037748 hyperlipoproteinemia skos:exactMatch MEDGEN:9363 semapv:UnspecifiedMatching MONDO:0037748 hyperlipoproteinemia skos:exactMatch NCIT:C34709 Hyperlipoproteinemia semapv:UnspecifiedMatching MONDO:0037748 hyperlipoproteinemia skos:exactMatch UMLS:C0020476 semapv:UnspecifiedMatching MONDO:0037748 hyperlipoproteinemia skos:exactMatch mesh:D006951 semapv:UnspecifiedMatching MONDO:0037792 carbohydrate metabolism disease skos:exactMatch MEDGEN:472889 semapv:UnspecifiedMatching MONDO:0037792 carbohydrate metabolism disease skos:exactMatch SCTID:20957000 semapv:UnspecifiedMatching MONDO:0037792 carbohydrate metabolism disease skos:exactMatch UMLS:C0149670 semapv:UnspecifiedMatching MONDO:0037807 glycerol metabolism disease skos:exactMatch MEDGEN:575210 semapv:UnspecifiedMatching MONDO:0037807 glycerol metabolism disease skos:exactMatch SCTID:237977000 semapv:UnspecifiedMatching MONDO:0037807 glycerol metabolism disease skos:exactMatch UMLS:C0342762 semapv:UnspecifiedMatching MONDO:0037821 porphyrin metabolism disease skos:exactMatch MEDGEN:10865 semapv:UnspecifiedMatching MONDO:0037821 porphyrin metabolism disease skos:exactMatch SCTID:29094004 semapv:UnspecifiedMatching MONDO:0037821 porphyrin metabolism disease skos:exactMatch UMLS:C0032708 semapv:UnspecifiedMatching MONDO:0037829 purine metabolism disease skos:exactMatch MEDGEN:541199 semapv:UnspecifiedMatching MONDO:0037829 purine metabolism disease skos:exactMatch SCTID:32612005 semapv:UnspecifiedMatching MONDO:0037829 purine metabolism disease skos:exactMatch UMLS:C0268104 semapv:UnspecifiedMatching MONDO:0037847 vertebral joint disorder skos:exactMatch EFO:0009477 semapv:UnspecifiedMatching MONDO:0037847 vertebral joint disorder skos:exactMatch MEDGEN:1853166 semapv:UnspecifiedMatching MONDO:0037847 vertebral joint disorder skos:exactMatch SCTID:372109003 semapv:UnspecifiedMatching MONDO:0037847 vertebral joint disorder skos:exactMatch UMLS:C0541407 semapv:UnspecifiedMatching MONDO:0037858 inherited fatty acid metabolism disorder skos:exactMatch MEDGEN:468968 semapv:UnspecifiedMatching MONDO:0037858 inherited fatty acid metabolism disorder skos:exactMatch NCIT:C117115 Fatty Acid Metabolism Disorder semapv:UnspecifiedMatching MONDO:0037858 inherited fatty acid metabolism disorder skos:exactMatch SCTID:39929009 semapv:UnspecifiedMatching MONDO:0037858 inherited fatty acid metabolism disorder skos:exactMatch UMLS:C0268634 semapv:UnspecifiedMatching MONDO:0037860 obsolete rare systemic or rheumatologic disease skos:exactMatch Orphanet:98023 Rare systemic or rheumatologic disease semapv:UnspecifiedMatching MONDO:0037870 valine metabolism disease skos:exactMatch MEDGEN:753614 semapv:UnspecifiedMatching MONDO:0037870 valine metabolism disease skos:exactMatch SCTID:444756000 semapv:UnspecifiedMatching MONDO:0037870 valine metabolism disease skos:exactMatch UMLS:C2919304 semapv:UnspecifiedMatching MONDO:0037871 amino acid metabolism disease skos:exactMatch SCTID:44779003 semapv:UnspecifiedMatching MONDO:0037872 bordetellosis skos:exactMatch MEDGEN:637 semapv:UnspecifiedMatching MONDO:0037872 bordetellosis skos:exactMatch SCTID:26484003 semapv:UnspecifiedMatching MONDO:0037872 bordetellosis skos:exactMatch UMLS:C0006015 semapv:UnspecifiedMatching MONDO:0037872 bordetellosis skos:exactMatch mesh:D001885 semapv:UnspecifiedMatching MONDO:0037937 pyrimidine metabolism disease skos:exactMatch SCTID:85444005 semapv:UnspecifiedMatching MONDO:0037939 porphyria skos:exactMatch MEDGEN:1844832 semapv:UnspecifiedMatching MONDO:0037939 porphyria skos:exactMatch NCIT:C97096 Porphyria semapv:UnspecifiedMatching MONDO:0037939 porphyria skos:exactMatch SCTID:418470004 semapv:UnspecifiedMatching MONDO:0037939 porphyria skos:exactMatch UMLS:C5848305 semapv:UnspecifiedMatching MONDO:0037939 porphyria skos:exactMatch mesh:D011164 semapv:UnspecifiedMatching MONDO:0037940 inherited auditory system disease skos:exactMatch MEDGEN:707712 semapv:UnspecifiedMatching MONDO:0037940 inherited auditory system disease skos:exactMatch SCTID:362991006 semapv:UnspecifiedMatching MONDO:0037940 inherited auditory system disease skos:exactMatch UMLS:C1285174 semapv:UnspecifiedMatching MONDO:0038261 obsolete genetic neurological channelopathy of the central nervous system skos:exactMatch Orphanet:98743 Genetic neurological channelopathy of the central nervous system semapv:UnspecifiedMatching MONDO:0038268 obsolete autoimmune neurological channelopathy skos:exactMatch Orphanet:98750 Autoimmune neurological channelopathy semapv:UnspecifiedMatching MONDO:0040500 glycosylphosphatidylinositol biosynthesis defect 16 skos:exactMatch DOID:0081223 glycosylphosphatidylinositol biosynthesis defect 16 semapv:UnspecifiedMatching MONDO:0040500 glycosylphosphatidylinositol biosynthesis defect 16 skos:exactMatch MEDGEN:1628197 semapv:UnspecifiedMatching MONDO:0040500 glycosylphosphatidylinositol biosynthesis defect 16 skos:exactMatch OMIM:617816 glycosylphosphatidylinositol biosynthesis defect 16 semapv:UnspecifiedMatching MONDO:0040500 glycosylphosphatidylinositol biosynthesis defect 16 skos:exactMatch UMLS:C4540521 semapv:UnspecifiedMatching MONDO:0040501 Ehlers-Danlos syndrome, arthrochalasia type, 2 skos:exactMatch DOID:0080728 Ehlers-Danlos syndrome arthrochalasia type 2 semapv:UnspecifiedMatching MONDO:0040501 Ehlers-Danlos syndrome, arthrochalasia type, 2 skos:exactMatch OMIM:617821 ehlers-danlos syndrome, arthrochalasia type, 2 semapv:UnspecifiedMatching MONDO:0040501 Ehlers-Danlos syndrome, arthrochalasia type, 2 skos:exactMatch icd11.foundation:380846833 Ehlers-Danlos syndrome type 7B semapv:UnspecifiedMatching MONDO:0040501 Ehlers-Danlos syndrome, arthrochalasia type, 2 skos:exactMatch mesh:C565061 semapv:UnspecifiedMatching MONDO:0040502 glucocorticoid deficiency 5 skos:exactMatch DOID:0061244 semapv:UnspecifiedMatching MONDO:0040502 glucocorticoid deficiency 5 skos:exactMatch MEDGEN:1614419 semapv:UnspecifiedMatching MONDO:0040502 glucocorticoid deficiency 5 skos:exactMatch OMIM:617825 glucocorticoid deficiency 5 semapv:UnspecifiedMatching MONDO:0040502 glucocorticoid deficiency 5 skos:exactMatch UMLS:C4540522 semapv:UnspecifiedMatching MONDO:0040503 blepharocheilodontic syndrome 2 skos:exactMatch DOID:0080346 blepharocheilodontic syndrome 2 semapv:UnspecifiedMatching MONDO:0040503 blepharocheilodontic syndrome 2 skos:exactMatch MEDGEN:1623594 semapv:UnspecifiedMatching MONDO:0040503 blepharocheilodontic syndrome 2 skos:exactMatch OMIM:617681 blepharocheilodontic syndrome 2 semapv:UnspecifiedMatching MONDO:0040503 blepharocheilodontic syndrome 2 skos:exactMatch UMLS:C4540127 semapv:UnspecifiedMatching MONDO:0040566 inherited glutathione metabolism disease skos:exactMatch MEDGEN:541346 semapv:UnspecifiedMatching MONDO:0040566 inherited glutathione metabolism disease skos:exactMatch SCTID:72262000 semapv:UnspecifiedMatching MONDO:0040566 inherited glutathione metabolism disease skos:exactMatch UMLS:C0268518 semapv:UnspecifiedMatching MONDO:0040653 autosomal recessive ocular albinism skos:exactMatch ICD10CM:E70.311 Autosomal recessive ocular albinism semapv:UnspecifiedMatching MONDO:0040653 autosomal recessive ocular albinism skos:exactMatch MEDGEN:541337 semapv:UnspecifiedMatching MONDO:0040653 autosomal recessive ocular albinism skos:exactMatch SCTID:78921008 semapv:UnspecifiedMatching MONDO:0040653 autosomal recessive ocular albinism skos:exactMatch UMLS:C0268503 semapv:UnspecifiedMatching MONDO:0040654 autosomal dominant oculocutaneous albinism skos:exactMatch MEDGEN:541335 semapv:UnspecifiedMatching MONDO:0040654 autosomal dominant oculocutaneous albinism skos:exactMatch SCTID:79417003 semapv:UnspecifiedMatching MONDO:0040654 autosomal dominant oculocutaneous albinism skos:exactMatch UMLS:C0268499 semapv:UnspecifiedMatching MONDO:0040671 class V glucose-6-phosphate dehydrogenase deficiency skos:exactMatch MEDGEN:543772 semapv:UnspecifiedMatching MONDO:0040671 class V glucose-6-phosphate dehydrogenase deficiency skos:exactMatch SCTID:80963002 semapv:UnspecifiedMatching MONDO:0040671 class V glucose-6-phosphate dehydrogenase deficiency skos:exactMatch UMLS:C0272060 semapv:UnspecifiedMatching MONDO:0040673 malignant peritoneal germ cell tumor skos:exactMatch MEDGEN:1612836 semapv:UnspecifiedMatching MONDO:0040673 malignant peritoneal germ cell tumor skos:exactMatch NCIT:C136410 Malignant Retroperitoneal Germ Cell Tumor semapv:UnspecifiedMatching MONDO:0040673 malignant peritoneal germ cell tumor skos:exactMatch UMLS:C4526657 semapv:UnspecifiedMatching MONDO:0040674 orgasm disorder skos:exactMatch ICD10CM:F52.3 Orgasmic disorder semapv:UnspecifiedMatching MONDO:0040674 orgasm disorder skos:exactMatch MEDGEN:10472 semapv:UnspecifiedMatching MONDO:0040674 orgasm disorder skos:exactMatch SCTID:82636008 semapv:UnspecifiedMatching MONDO:0040674 orgasm disorder skos:exactMatch UMLS:C0029261 semapv:UnspecifiedMatching MONDO:0040675 myofibroblastoma skos:exactMatch MEDGEN:66894 semapv:UnspecifiedMatching MONDO:0040675 myofibroblastoma skos:exactMatch NCIT:C49012 Myofibroblastoma semapv:UnspecifiedMatching MONDO:0040675 myofibroblastoma skos:exactMatch UMLS:C0242404 semapv:UnspecifiedMatching MONDO:0040676 great vessel cancer skos:exactMatch MEDGEN:777096 semapv:UnspecifiedMatching MONDO:0040676 great vessel cancer skos:exactMatch NCIT:C4575 Malignant Great Vessel Neoplasm semapv:UnspecifiedMatching MONDO:0040676 great vessel cancer skos:exactMatch UMLS:C3665405 semapv:UnspecifiedMatching MONDO:0040677 invasive carcinoma skos:exactMatch MEDGEN:233579 semapv:UnspecifiedMatching MONDO:0040677 invasive carcinoma skos:exactMatch NCIT:C9480 Invasive Carcinoma semapv:UnspecifiedMatching MONDO:0040677 invasive carcinoma skos:exactMatch UMLS:C1334274 semapv:UnspecifiedMatching MONDO:0040678 infiltrating urothelial carcinoma skos:exactMatch MEDGEN:268274 semapv:UnspecifiedMatching MONDO:0040678 infiltrating urothelial carcinoma skos:exactMatch NCIT:C39853 Invasive Urothelial Carcinoma semapv:UnspecifiedMatching MONDO:0040678 infiltrating urothelial carcinoma skos:exactMatch UMLS:C1512751 semapv:UnspecifiedMatching MONDO:0040679 urothelial carcinoma skos:exactMatch EFO:0008528 semapv:UnspecifiedMatching MONDO:0040679 urothelial carcinoma skos:exactMatch MEDGEN:760495 semapv:UnspecifiedMatching MONDO:0040679 urothelial carcinoma skos:exactMatch NCIT:C4030 Urothelial Carcinoma semapv:UnspecifiedMatching MONDO:0040679 urothelial carcinoma skos:exactMatch UMLS:C2145472 semapv:UnspecifiedMatching MONDO:0040698 subacute bursitis skos:exactMatch MEDGEN:712544 semapv:UnspecifiedMatching MONDO:0040698 subacute bursitis skos:exactMatch SCTID:109298000 semapv:UnspecifiedMatching MONDO:0040698 subacute bursitis skos:exactMatch UMLS:C1290159 semapv:UnspecifiedMatching MONDO:0040699 necrotizing scleritis skos:exactMatch MEDGEN:6542 semapv:UnspecifiedMatching MONDO:0040699 necrotizing scleritis skos:exactMatch SCTID:95797003 semapv:UnspecifiedMatching MONDO:0040699 necrotizing scleritis skos:exactMatch UMLS:C0027547 semapv:UnspecifiedMatching MONDO:0040700 orbital dermoid cyst skos:exactMatch MEDGEN:350581 semapv:UnspecifiedMatching MONDO:0040700 orbital dermoid cyst skos:exactMatch NCIT:C4548 Orbital Dermoid Cyst semapv:UnspecifiedMatching MONDO:0040700 orbital dermoid cyst skos:exactMatch SCTID:255002002 semapv:UnspecifiedMatching MONDO:0040700 orbital dermoid cyst skos:exactMatch UMLS:C1862060 semapv:UnspecifiedMatching MONDO:0040728 Campylobacter fetus infectious disease skos:exactMatch MEDGEN:547000 semapv:UnspecifiedMatching MONDO:0040728 Campylobacter fetus infectious disease skos:exactMatch SCTID:111835002 semapv:UnspecifiedMatching MONDO:0040728 Campylobacter fetus infectious disease skos:exactMatch UMLS:C0275979 semapv:UnspecifiedMatching MONDO:0040732 Pseudomonas aeruginosa infectious disease skos:exactMatch MEDGEN:547066 semapv:UnspecifiedMatching MONDO:0040732 Pseudomonas aeruginosa infectious disease skos:exactMatch SCTID:11218009 semapv:UnspecifiedMatching MONDO:0040732 Pseudomonas aeruginosa infectious disease skos:exactMatch UMLS:C0276075 semapv:UnspecifiedMatching MONDO:0040753 latent tuberculosis infection skos:exactMatch MEDGEN:294255 semapv:UnspecifiedMatching MONDO:0040753 latent tuberculosis infection skos:exactMatch SCTID:11999007 semapv:UnspecifiedMatching MONDO:0040753 latent tuberculosis infection skos:exactMatch UMLS:C1609538 semapv:UnspecifiedMatching MONDO:0040753 latent tuberculosis infection skos:exactMatch mesh:D055985 semapv:UnspecifiedMatching MONDO:0040797 obsolete vascular headache skos:exactMatch SCTID:128187005 semapv:UnspecifiedMatching MONDO:0040797 obsolete vascular headache skos:exactMatch mesh:D014653 semapv:UnspecifiedMatching MONDO:0040871 psychogenic polydipsia skos:exactMatch MEDGEN:452478 semapv:UnspecifiedMatching MONDO:0040871 psychogenic polydipsia skos:exactMatch SCTID:15945005 semapv:UnspecifiedMatching MONDO:0040871 psychogenic polydipsia skos:exactMatch UMLS:C0395005 semapv:UnspecifiedMatching MONDO:0040922 latent early syphilis skos:exactMatch MEDGEN:546880 semapv:UnspecifiedMatching MONDO:0040922 latent early syphilis skos:exactMatch SCTID:186867005 semapv:UnspecifiedMatching MONDO:0040922 latent early syphilis skos:exactMatch UMLS:C0275842 semapv:UnspecifiedMatching MONDO:0040922 latent early syphilis skos:exactMatch icd11.foundation:1768103550 Latent early syphilis semapv:UnspecifiedMatching MONDO:0040923 late latent syphilis skos:exactMatch MEDGEN:687555 semapv:UnspecifiedMatching MONDO:0040923 late latent syphilis skos:exactMatch NCIT:C128371 Late Latent Syphilis semapv:UnspecifiedMatching MONDO:0040923 late latent syphilis skos:exactMatch SCTID:186903006 semapv:UnspecifiedMatching MONDO:0040923 late latent syphilis skos:exactMatch UMLS:C1260915 semapv:UnspecifiedMatching MONDO:0040925 latent yaws skos:exactMatch ICD10CM:A66.8 Latent yaws semapv:UnspecifiedMatching MONDO:0040925 latent yaws skos:exactMatch MEDGEN:509217 semapv:UnspecifiedMatching MONDO:0040925 latent yaws skos:exactMatch SCTID:186973005 semapv:UnspecifiedMatching MONDO:0040925 latent yaws skos:exactMatch UMLS:C0153240 semapv:UnspecifiedMatching MONDO:0040925 latent yaws skos:exactMatch icd11.foundation:247169608 Latent yaws semapv:UnspecifiedMatching MONDO:0040964 obsolete superimposed infection skos:exactMatch SCTID:193198003 semapv:UnspecifiedMatching MONDO:0040998 Pasteurella multocida infectious disease skos:exactMatch MEDGEN:226779 semapv:UnspecifiedMatching MONDO:0040998 Pasteurella multocida infectious disease skos:exactMatch SCTID:197718007 semapv:UnspecifiedMatching MONDO:0040998 Pasteurella multocida infectious disease skos:exactMatch UMLS:C1260911 semapv:UnspecifiedMatching MONDO:0041008 obsolete contact dermatitis caused by poison oak skos:exactMatch SCTID:200824008 semapv:UnspecifiedMatching MONDO:0041052 postherpetic neuralgia skos:exactMatch MEDGEN:18589 semapv:UnspecifiedMatching MONDO:0041052 postherpetic neuralgia skos:exactMatch SCTID:2177002 semapv:UnspecifiedMatching MONDO:0041052 postherpetic neuralgia skos:exactMatch UMLS:C0032768 semapv:UnspecifiedMatching MONDO:0041052 postherpetic neuralgia skos:exactMatch icd11.foundation:1797210650 Postherpetic neuralgia semapv:UnspecifiedMatching MONDO:0041086 mixed anxiety and depressive disorder skos:exactMatch MEDGEN:572834 semapv:UnspecifiedMatching MONDO:0041086 mixed anxiety and depressive disorder skos:exactMatch SCTID:231504006 semapv:UnspecifiedMatching MONDO:0041086 mixed anxiety and depressive disorder skos:exactMatch UMLS:C0338908 semapv:UnspecifiedMatching MONDO:0041093 central retinal vein occlusion with macular edema skos:exactMatch MEDGEN:573198 semapv:UnspecifiedMatching MONDO:0041093 central retinal vein occlusion with macular edema skos:exactMatch SCTID:232039004 semapv:UnspecifiedMatching MONDO:0041093 central retinal vein occlusion with macular edema skos:exactMatch UMLS:C0339498 semapv:UnspecifiedMatching MONDO:0041095 malignant otitis externa caused by Pseudomonas aeruginosa skos:exactMatch MEDGEN:583067 semapv:UnspecifiedMatching MONDO:0041095 malignant otitis externa caused by Pseudomonas aeruginosa skos:exactMatch SCTID:232230009 semapv:UnspecifiedMatching MONDO:0041095 malignant otitis externa caused by Pseudomonas aeruginosa skos:exactMatch UMLS:C0395818 semapv:UnspecifiedMatching MONDO:0041114 peripheral ischemia skos:exactMatch MEDGEN:115991 semapv:UnspecifiedMatching MONDO:0041114 peripheral ischemia skos:exactMatch SCTID:233958001 semapv:UnspecifiedMatching MONDO:0041114 peripheral ischemia skos:exactMatch UMLS:C0235490 semapv:UnspecifiedMatching MONDO:0041154 disorder of neck of urinary bladder skos:exactMatch MEDGEN:588557 semapv:UnspecifiedMatching MONDO:0041154 disorder of neck of urinary bladder skos:exactMatch SCTID:236644005 semapv:UnspecifiedMatching MONDO:0041154 disorder of neck of urinary bladder skos:exactMatch UMLS:C0403653 semapv:UnspecifiedMatching MONDO:0041161 obsolete endometrial hyperplasia skos:exactMatch DOID:0080365 endometrial hyperplasia semapv:UnspecifiedMatching MONDO:0041161 obsolete endometrial hyperplasia skos:exactMatch NCIT:C3013 Endometrial Hyperplasia semapv:UnspecifiedMatching MONDO:0041161 obsolete endometrial hyperplasia skos:exactMatch SCTID:237072009 semapv:UnspecifiedMatching MONDO:0041161 obsolete endometrial hyperplasia skos:exactMatch mesh:D004714 semapv:UnspecifiedMatching MONDO:0041167 carcinoid crisis skos:exactMatch MEDGEN:575107 semapv:UnspecifiedMatching MONDO:0041167 carcinoid crisis skos:exactMatch SCTID:237833006 semapv:UnspecifiedMatching MONDO:0041167 carcinoid crisis skos:exactMatch UMLS:C0342569 semapv:UnspecifiedMatching MONDO:0041182 polymorphic light eruption skos:exactMatch ICD10CM:L56.4 Polymorphous light eruption semapv:UnspecifiedMatching MONDO:0041182 polymorphic light eruption skos:exactMatch MEDGEN:508043 semapv:UnspecifiedMatching MONDO:0041182 polymorphic light eruption skos:exactMatch SCTID:238525001 semapv:UnspecifiedMatching MONDO:0041182 polymorphic light eruption skos:exactMatch UMLS:C0031736 semapv:UnspecifiedMatching MONDO:0041182 polymorphic light eruption skos:exactMatch icd11.foundation:1883086071 Polymorphic light eruption semapv:UnspecifiedMatching MONDO:0041186 Rowell syndrome skos:exactMatch MEDGEN:590567 semapv:UnspecifiedMatching MONDO:0041186 Rowell syndrome skos:exactMatch Orphanet:658584 Rowell syndrome semapv:UnspecifiedMatching MONDO:0041186 Rowell syndrome skos:exactMatch SCTID:238926009 semapv:UnspecifiedMatching MONDO:0041186 Rowell syndrome skos:exactMatch UMLS:C0406637 semapv:UnspecifiedMatching MONDO:0041259 diphtheritic myocarditis skos:exactMatch MEDGEN:509091 semapv:UnspecifiedMatching MONDO:0041259 diphtheritic myocarditis skos:exactMatch SCTID:26117009 semapv:UnspecifiedMatching MONDO:0041259 diphtheritic myocarditis skos:exactMatch UMLS:C0152952 semapv:UnspecifiedMatching MONDO:0041259 diphtheritic myocarditis skos:exactMatch icd11.foundation:1165221541 Diphtheritic myocarditis semapv:UnspecifiedMatching MONDO:0041261 disorder of acid-base balance skos:exactMatch MEDGEN:541141 semapv:UnspecifiedMatching MONDO:0041261 disorder of acid-base balance skos:exactMatch SCTID:26436007 semapv:UnspecifiedMatching MONDO:0041261 disorder of acid-base balance skos:exactMatch UMLS:C0268029 semapv:UnspecifiedMatching MONDO:0041284 primary motor cortex epilepsy skos:exactMatch MEDGEN:536338 semapv:UnspecifiedMatching MONDO:0041284 primary motor cortex epilepsy skos:exactMatch SCTID:267592003 semapv:UnspecifiedMatching MONDO:0041284 primary motor cortex epilepsy skos:exactMatch UMLS:C0234978 semapv:UnspecifiedMatching MONDO:0041295 acute papillary necrosis skos:exactMatch MEDGEN:588410 semapv:UnspecifiedMatching MONDO:0041295 acute papillary necrosis skos:exactMatch SCTID:270494003 semapv:UnspecifiedMatching MONDO:0041295 acute papillary necrosis skos:exactMatch UMLS:C0403468 semapv:UnspecifiedMatching MONDO:0041366 acute epiglottitis skos:exactMatch ICD10CM:J05.1 Acute epiglottitis semapv:UnspecifiedMatching MONDO:0041366 acute epiglottitis skos:exactMatch MEDGEN:510093 semapv:UnspecifiedMatching MONDO:0041366 acute epiglottitis skos:exactMatch SCTID:29608009 semapv:UnspecifiedMatching MONDO:0041366 acute epiglottitis skos:exactMatch UMLS:C0155814 semapv:UnspecifiedMatching MONDO:0041366 acute epiglottitis skos:exactMatch icd11.foundation:1070805666 Acute epiglottitis semapv:UnspecifiedMatching MONDO:0041403 toxic amblyopia skos:exactMatch MEDGEN:536749 semapv:UnspecifiedMatching MONDO:0041403 toxic amblyopia skos:exactMatch SCTID:30483005 semapv:UnspecifiedMatching MONDO:0041403 toxic amblyopia skos:exactMatch UMLS:C0237979 semapv:UnspecifiedMatching MONDO:0041440 obsolete functional visual loss skos:exactMatch SCTID:313165001 semapv:UnspecifiedMatching MONDO:0041447 metastatic malignant neoplasm in the colon skos:exactMatch MEDGEN:83432 semapv:UnspecifiedMatching MONDO:0041447 metastatic malignant neoplasm in the colon skos:exactMatch NCIT:C8411 Metastatic Malignant Neoplasm in the Colon semapv:UnspecifiedMatching MONDO:0041447 metastatic malignant neoplasm in the colon skos:exactMatch UMLS:C0346974 semapv:UnspecifiedMatching MONDO:0041448 metastasis from malignant tumor of colon skos:exactMatch MEDGEN:705366 semapv:UnspecifiedMatching MONDO:0041448 metastasis from malignant tumor of colon skos:exactMatch SCTID:314998002 semapv:UnspecifiedMatching MONDO:0041448 metastasis from malignant tumor of colon skos:exactMatch UMLS:C1282500 semapv:UnspecifiedMatching MONDO:0041526 pregnancy disorder with abortive outcome skos:exactMatch ICD10CM:O00-O08 Pregnancy with abortive outcome (O00-O08) semapv:UnspecifiedMatching MONDO:0041526 pregnancy disorder with abortive outcome skos:exactMatch MEDGEN:102352 semapv:UnspecifiedMatching MONDO:0041526 pregnancy disorder with abortive outcome skos:exactMatch SCTID:363681007 semapv:UnspecifiedMatching MONDO:0041526 pregnancy disorder with abortive outcome skos:exactMatch UMLS:C0156543 semapv:UnspecifiedMatching MONDO:0041535 mesenteric lymphadenitis due to Yersinia infection skos:exactMatch MEDGEN:546804 semapv:UnspecifiedMatching MONDO:0041535 mesenteric lymphadenitis due to Yersinia infection skos:exactMatch SCTID:13272007 semapv:UnspecifiedMatching MONDO:0041535 mesenteric lymphadenitis due to Yersinia infection skos:exactMatch UMLS:C0275758 semapv:UnspecifiedMatching MONDO:0041536 Far-East scarlet-like fever skos:exactMatch MEDGEN:548219 semapv:UnspecifiedMatching MONDO:0041536 Far-East scarlet-like fever skos:exactMatch SCTID:47277009 semapv:UnspecifiedMatching MONDO:0041536 Far-East scarlet-like fever skos:exactMatch UMLS:C0277513 semapv:UnspecifiedMatching MONDO:0041656 ST-elevation myocardial infarction skos:exactMatch SCTID:401303003 semapv:UnspecifiedMatching MONDO:0041656 ST-elevation myocardial infarction skos:exactMatch mesh:D000072657 semapv:UnspecifiedMatching MONDO:0041751 multibacillary leprosy skos:exactMatch MEDGEN:288329 semapv:UnspecifiedMatching MONDO:0041751 multibacillary leprosy skos:exactMatch SCTID:416257001 semapv:UnspecifiedMatching MONDO:0041751 multibacillary leprosy skos:exactMatch UMLS:C1562585 semapv:UnspecifiedMatching MONDO:0041751 multibacillary leprosy skos:exactMatch icd11.foundation:1123804548 Multibacillary leprosy semapv:UnspecifiedMatching MONDO:0041751 multibacillary leprosy skos:exactMatch mesh:D056006 semapv:UnspecifiedMatching MONDO:0041752 paucibacillary leprosy skos:exactMatch MEDGEN:288331 semapv:UnspecifiedMatching MONDO:0041752 paucibacillary leprosy skos:exactMatch SCTID:416483009 semapv:UnspecifiedMatching MONDO:0041752 paucibacillary leprosy skos:exactMatch UMLS:C1562908 semapv:UnspecifiedMatching MONDO:0041752 paucibacillary leprosy skos:exactMatch icd11.foundation:1800264981 Paucibacillary leprosy semapv:UnspecifiedMatching MONDO:0041752 paucibacillary leprosy skos:exactMatch mesh:D056005 semapv:UnspecifiedMatching MONDO:0041755 twin reversal arterial perfusion syndrome skos:exactMatch MEDGEN:736778 semapv:UnspecifiedMatching MONDO:0041755 twin reversal arterial perfusion syndrome skos:exactMatch SCTID:417006004 semapv:UnspecifiedMatching MONDO:0041755 twin reversal arterial perfusion syndrome skos:exactMatch UMLS:C1562817 semapv:UnspecifiedMatching MONDO:0041775 intraoperative floppy iris syndrome skos:exactMatch ICD10CM:H21.81 Floppy iris syndrome semapv:UnspecifiedMatching MONDO:0041775 intraoperative floppy iris syndrome skos:exactMatch MEDGEN:739048 semapv:UnspecifiedMatching MONDO:0041775 intraoperative floppy iris syndrome skos:exactMatch SCTID:418801006 semapv:UnspecifiedMatching MONDO:0041775 intraoperative floppy iris syndrome skos:exactMatch UMLS:C1688637 semapv:UnspecifiedMatching MONDO:0041806 drug-resistant tuberculosis skos:exactMatch MEDGEN:61616 semapv:UnspecifiedMatching MONDO:0041806 drug-resistant tuberculosis skos:exactMatch SCTID:423709000 semapv:UnspecifiedMatching MONDO:0041806 drug-resistant tuberculosis skos:exactMatch UMLS:C0206525 semapv:UnspecifiedMatching MONDO:0041825 bacterial meningitis caused by gram-negative bacteria skos:exactMatch MEDGEN:678524 semapv:UnspecifiedMatching MONDO:0041825 bacterial meningitis caused by gram-negative bacteria skos:exactMatch SCTID:425887005 semapv:UnspecifiedMatching MONDO:0041825 bacterial meningitis caused by gram-negative bacteria skos:exactMatch UMLS:C0854215 semapv:UnspecifiedMatching MONDO:0041850 pneumonia caused by gram negative bacteria skos:exactMatch MEDGEN:678525 semapv:UnspecifiedMatching MONDO:0041850 pneumonia caused by gram negative bacteria skos:exactMatch SCTID:430395005 semapv:UnspecifiedMatching MONDO:0041850 pneumonia caused by gram negative bacteria skos:exactMatch UMLS:C0854248 semapv:UnspecifiedMatching MONDO:0041879 staphylococcus aureus pneumonia skos:exactMatch ICD10CM:J15.21 Pneumonia due to staphylococcus aureus semapv:UnspecifiedMatching MONDO:0041879 staphylococcus aureus pneumonia skos:exactMatch MEDGEN:167803 semapv:UnspecifiedMatching MONDO:0041879 staphylococcus aureus pneumonia skos:exactMatch SCTID:441658007 semapv:UnspecifiedMatching MONDO:0041879 staphylococcus aureus pneumonia skos:exactMatch UMLS:C0857862 semapv:UnspecifiedMatching MONDO:0041903 gonococcal infection of joint skos:exactMatch MEDGEN:509210 semapv:UnspecifiedMatching MONDO:0041903 gonococcal infection of joint skos:exactMatch SCTID:44743006 semapv:UnspecifiedMatching MONDO:0041903 gonococcal infection of joint skos:exactMatch UMLS:C0153216 semapv:UnspecifiedMatching MONDO:0041903 gonococcal infection of joint skos:exactMatch icd11.foundation:1787713905 Gonococcal infection of joint semapv:UnspecifiedMatching MONDO:0041959 fibrosis of bile duct skos:exactMatch MEDGEN:636068 semapv:UnspecifiedMatching MONDO:0041959 fibrosis of bile duct skos:exactMatch SCTID:48124008 semapv:UnspecifiedMatching MONDO:0041959 fibrosis of bile duct skos:exactMatch UMLS:C0520571 semapv:UnspecifiedMatching MONDO:0041996 thallium poisoning skos:exactMatch SCTID:51040009 semapv:UnspecifiedMatching MONDO:0042233 disseminated candidiasis skos:exactMatch ICD10CM:B37.7 Candidal sepsis semapv:UnspecifiedMatching MONDO:0042233 disseminated candidiasis skos:exactMatch MEDGEN:102260 semapv:UnspecifiedMatching MONDO:0042233 disseminated candidiasis skos:exactMatch NCIT:C116812 Disseminated Candidiasis semapv:UnspecifiedMatching MONDO:0042233 disseminated candidiasis skos:exactMatch SCTID:70572005 semapv:UnspecifiedMatching MONDO:0042233 disseminated candidiasis skos:exactMatch UMLS:C0153252 semapv:UnspecifiedMatching MONDO:0042370 Yersinia enterocolitica infectious disease skos:exactMatch EFO:0009424 semapv:UnspecifiedMatching MONDO:0042370 Yersinia enterocolitica infectious disease skos:exactMatch SCTID:80960004 semapv:UnspecifiedMatching MONDO:0042433 mycotic endocarditis skos:exactMatch MEDGEN:547460 semapv:UnspecifiedMatching MONDO:0042433 mycotic endocarditis skos:exactMatch SCTID:86348002 semapv:UnspecifiedMatching MONDO:0042433 mycotic endocarditis skos:exactMatch UMLS:C0276648 semapv:UnspecifiedMatching MONDO:0042433 mycotic endocarditis skos:exactMatch icd11.foundation:1487619220 Fungal endocarditis semapv:UnspecifiedMatching MONDO:0042451 endomyometritis skos:exactMatch MEDGEN:75710 semapv:UnspecifiedMatching MONDO:0042451 endomyometritis skos:exactMatch SCTID:88027004 semapv:UnspecifiedMatching MONDO:0042451 endomyometritis skos:exactMatch UMLS:C0269050 semapv:UnspecifiedMatching MONDO:0042451 endomyometritis skos:exactMatch icd11.foundation:229826357 Endomyometritis semapv:UnspecifiedMatching MONDO:0042452 tertiary lesion of yaws skos:exactMatch MEDGEN:575866 semapv:UnspecifiedMatching MONDO:0042452 tertiary lesion of yaws skos:exactMatch SCTID:88037009 semapv:UnspecifiedMatching MONDO:0042452 tertiary lesion of yaws skos:exactMatch UMLS:C0343833 semapv:UnspecifiedMatching MONDO:0042458 Trichinella spiralis infectious disease skos:exactMatch MEDGEN:854509 semapv:UnspecifiedMatching MONDO:0042458 Trichinella spiralis infectious disease skos:exactMatch SCTID:88264003 semapv:UnspecifiedMatching MONDO:0042458 Trichinella spiralis infectious disease skos:exactMatch UMLS:C3887668 semapv:UnspecifiedMatching MONDO:0042484 disseminated sporotrichosis skos:exactMatch ICD10CM:B42.7 Disseminated sporotrichosis semapv:UnspecifiedMatching MONDO:0042484 disseminated sporotrichosis skos:exactMatch MEDGEN:547522 semapv:UnspecifiedMatching MONDO:0042484 disseminated sporotrichosis skos:exactMatch SCTID:91051003 semapv:UnspecifiedMatching MONDO:0042484 disseminated sporotrichosis skos:exactMatch UMLS:C0276725 semapv:UnspecifiedMatching MONDO:0042484 disseminated sporotrichosis skos:exactMatch icd11.foundation:984175752 Disseminated sporotrichosis semapv:UnspecifiedMatching MONDO:0042485 infective arthritis skos:exactMatch MEDGEN:13918 semapv:UnspecifiedMatching MONDO:0042485 infective arthritis skos:exactMatch NCIT:C26700 Infective Arthritis semapv:UnspecifiedMatching MONDO:0042485 infective arthritis skos:exactMatch UMLS:C0003869 semapv:UnspecifiedMatching MONDO:0042486 polyposis syndrome, hereditary mixed, 1 skos:exactMatch DOID:0111685 hereditary mixed polyposis syndrome 1 semapv:UnspecifiedMatching MONDO:0042486 polyposis syndrome, hereditary mixed, 1 skos:exactMatch MEDGEN:331320 semapv:UnspecifiedMatching MONDO:0042486 polyposis syndrome, hereditary mixed, 1 skos:exactMatch OMIM:601228 polyposis syndrome, hereditary mixed, 1 semapv:UnspecifiedMatching MONDO:0042486 polyposis syndrome, hereditary mixed, 1 skos:exactMatch UMLS:C1832587 semapv:UnspecifiedMatching MONDO:0042487 uterine cervix carcinoma in situ skos:exactMatch DOID:8991 cervix uteri carcinoma in situ semapv:UnspecifiedMatching MONDO:0042487 uterine cervix carcinoma in situ skos:exactMatch MEDGEN:163094 semapv:UnspecifiedMatching MONDO:0042487 uterine cervix carcinoma in situ skos:exactMatch NCIT:C4000 Stage 0 Cervical Cancer AJCC v6 semapv:UnspecifiedMatching MONDO:0042487 uterine cervix carcinoma in situ skos:exactMatch SCTID:254889004 semapv:UnspecifiedMatching MONDO:0042487 uterine cervix carcinoma in situ skos:exactMatch UMLS:C0851140 semapv:UnspecifiedMatching MONDO:0042487 uterine cervix carcinoma in situ skos:exactMatch mesh:D018290 semapv:UnspecifiedMatching MONDO:0042488 Cestode infectious disease skos:exactMatch SCTID:86133004 semapv:UnspecifiedMatching MONDO:0042488 Cestode infectious disease skos:exactMatch mesh:D002590 semapv:UnspecifiedMatching MONDO:0042489 disease susceptibility skos:exactMatch MEDGEN:41610 semapv:UnspecifiedMatching MONDO:0042489 disease susceptibility skos:exactMatch UMLS:C0012655 semapv:UnspecifiedMatching MONDO:0042489 disease susceptibility skos:exactMatch mesh:D004198 semapv:UnspecifiedMatching MONDO:0042490 neutropenia, severe congenital, 1, autosomal dominant skos:exactMatch DOID:0080625 severe congenital neutropenia 1 semapv:UnspecifiedMatching MONDO:0042490 neutropenia, severe congenital, 1, autosomal dominant skos:exactMatch MEDGEN:348506 semapv:UnspecifiedMatching MONDO:0042490 neutropenia, severe congenital, 1, autosomal dominant skos:exactMatch OMIM:202700 neutropenia, severe congenital, 1, autosomal dominant semapv:UnspecifiedMatching MONDO:0042490 neutropenia, severe congenital, 1, autosomal dominant skos:exactMatch UMLS:C1859966 semapv:UnspecifiedMatching MONDO:0042490 neutropenia, severe congenital, 1, autosomal dominant skos:exactMatch mesh:C565969 semapv:UnspecifiedMatching MONDO:0042491 cervical squamous intraepithelial neoplasia skos:exactMatch MEDGEN:234116 semapv:UnspecifiedMatching MONDO:0042491 cervical squamous intraepithelial neoplasia skos:exactMatch NCIT:C7346 Cervical Squamous Intraepithelial Neoplasia semapv:UnspecifiedMatching MONDO:0042491 cervical squamous intraepithelial neoplasia skos:exactMatch UMLS:C1332922 semapv:UnspecifiedMatching MONDO:0042491 cervical squamous intraepithelial neoplasia skos:exactMatch mesh:D065310 semapv:UnspecifiedMatching MONDO:0042493 gastric non-hodgkin lymphoma skos:exactMatch MEDGEN:232549 semapv:UnspecifiedMatching MONDO:0042493 gastric non-hodgkin lymphoma skos:exactMatch NCIT:C27235 Gastric Non-Hodgkin Lymphoma semapv:UnspecifiedMatching MONDO:0042493 gastric non-hodgkin lymphoma skos:exactMatch SCTID:448709005 semapv:UnspecifiedMatching MONDO:0042493 gastric non-hodgkin lymphoma skos:exactMatch UMLS:C1333784 semapv:UnspecifiedMatching MONDO:0042494 childhood malignant melanoma skos:exactMatch MEDGEN:1374316 semapv:UnspecifiedMatching MONDO:0042494 childhood malignant melanoma skos:exactMatch NCIT:C131506 Childhood Melanoma semapv:UnspecifiedMatching MONDO:0042494 childhood malignant melanoma skos:exactMatch UMLS:C4329660 semapv:UnspecifiedMatching MONDO:0042495 arteriosclerotic retinopathy skos:exactMatch MEDGEN:573178 semapv:UnspecifiedMatching MONDO:0042495 arteriosclerotic retinopathy skos:exactMatch SCTID:95691008 semapv:UnspecifiedMatching MONDO:0042495 arteriosclerotic retinopathy skos:exactMatch UMLS:C0339478 semapv:UnspecifiedMatching MONDO:0042496 ergotism skos:exactMatch SCTID:51510002 semapv:UnspecifiedMatching MONDO:0042496 ergotism skos:exactMatch icd11.foundation:1013848192 Ergotism semapv:UnspecifiedMatching MONDO:0042496 ergotism skos:exactMatch mesh:D004881 semapv:UnspecifiedMatching MONDO:0042497 mycotoxicosis skos:exactMatch SCTID:26033009 semapv:UnspecifiedMatching MONDO:0042497 mycotoxicosis skos:exactMatch mesh:D015651 semapv:UnspecifiedMatching MONDO:0042498 Ruzicka-Goerz-Anton syndrome skos:exactMatch MEDGEN:444055 semapv:UnspecifiedMatching MONDO:0042498 Ruzicka-Goerz-Anton syndrome skos:exactMatch UMLS:C2931438 semapv:UnspecifiedMatching MONDO:0042498 Ruzicka-Goerz-Anton syndrome skos:exactMatch mesh:C537192 semapv:UnspecifiedMatching MONDO:0042499 benign familial neonatal-infantile seizures 1 skos:exactMatch DOID:0081114 benign familial infantile seizures 1 semapv:UnspecifiedMatching MONDO:0042499 benign familial neonatal-infantile seizures 1 skos:exactMatch MEDGEN:1638448 semapv:UnspecifiedMatching MONDO:0042499 benign familial neonatal-infantile seizures 1 skos:exactMatch OMIM:601764 seizures, benign familial infantile, 1 semapv:UnspecifiedMatching MONDO:0042499 benign familial neonatal-infantile seizures 1 skos:exactMatch UMLS:C4551769 semapv:UnspecifiedMatching MONDO:0042600 Sammartino-Decreccio syndrome skos:exactMatch MEDGEN:419806 semapv:UnspecifiedMatching MONDO:0042600 Sammartino-Decreccio syndrome skos:exactMatch UMLS:C2931447 semapv:UnspecifiedMatching MONDO:0042601 Samson-Gardner syndrome skos:exactMatch MEDGEN:419807 semapv:UnspecifiedMatching MONDO:0042601 Samson-Gardner syndrome skos:exactMatch UMLS:C2931448 semapv:UnspecifiedMatching MONDO:0042601 Samson-Gardner syndrome skos:exactMatch mesh:C537230 semapv:UnspecifiedMatching MONDO:0042602 Samson-Viljoen syndrome skos:exactMatch MEDGEN:419808 semapv:UnspecifiedMatching MONDO:0042602 Samson-Viljoen syndrome skos:exactMatch UMLS:C2931449 semapv:UnspecifiedMatching MONDO:0042602 Samson-Viljoen syndrome skos:exactMatch mesh:C537231 semapv:UnspecifiedMatching MONDO:0042603 Sanderson-Fraser syndrome skos:exactMatch MEDGEN:419081 semapv:UnspecifiedMatching MONDO:0042603 Sanderson-Fraser syndrome skos:exactMatch UMLS:C2931450 semapv:UnspecifiedMatching MONDO:0042603 Sanderson-Fraser syndrome skos:exactMatch mesh:C537232 semapv:UnspecifiedMatching MONDO:0042604 Sandhaus-Ben-Ami syndrome skos:exactMatch MEDGEN:444058 semapv:UnspecifiedMatching MONDO:0042604 Sandhaus-Ben-Ami syndrome skos:exactMatch UMLS:C2931451 semapv:UnspecifiedMatching MONDO:0042604 Sandhaus-Ben-Ami syndrome skos:exactMatch mesh:C537233 semapv:UnspecifiedMatching MONDO:0042705 prostatic malacoplakia associated with prostatic abscess skos:exactMatch MEDGEN:419811 semapv:UnspecifiedMatching MONDO:0042705 prostatic malacoplakia associated with prostatic abscess skos:exactMatch UMLS:C2931457 semapv:UnspecifiedMatching MONDO:0042705 prostatic malacoplakia associated with prostatic abscess skos:exactMatch mesh:C537244 semapv:UnspecifiedMatching MONDO:0042717 Saul-Wilkes-Stevenson syndrome skos:exactMatch MEDGEN:419372 semapv:UnspecifiedMatching MONDO:0042717 Saul-Wilkes-Stevenson syndrome skos:exactMatch UMLS:C2931266 semapv:UnspecifiedMatching MONDO:0042717 Saul-Wilkes-Stevenson syndrome skos:exactMatch mesh:C536617 semapv:UnspecifiedMatching MONDO:0042726 macrogyria, pseudobulbar palsy and intellectual disability skos:exactMatch MEDGEN:419450 semapv:UnspecifiedMatching MONDO:0042726 macrogyria, pseudobulbar palsy and intellectual disability skos:exactMatch UMLS:C2931598 semapv:UnspecifiedMatching MONDO:0042726 macrogyria, pseudobulbar palsy and intellectual disability skos:exactMatch mesh:C537722 semapv:UnspecifiedMatching MONDO:0042727 sacrococcygeal teratoma skos:exactMatch MEDGEN:107852 semapv:UnspecifiedMatching MONDO:0042727 sacrococcygeal teratoma skos:exactMatch NCIT:C99055 Sacrococcygeal Teratoma semapv:UnspecifiedMatching MONDO:0042727 sacrococcygeal teratoma skos:exactMatch Orphanet:494421 Sacrococcygeal teratoma semapv:UnspecifiedMatching MONDO:0042727 sacrococcygeal teratoma skos:exactMatch SCTID:281561000 semapv:UnspecifiedMatching MONDO:0042727 sacrococcygeal teratoma skos:exactMatch UMLS:C0559459 semapv:UnspecifiedMatching MONDO:0042911 Schwartz-Cohen-addad-Lambert syndrome skos:exactMatch MEDGEN:443962 semapv:UnspecifiedMatching MONDO:0042911 Schwartz-Cohen-addad-Lambert syndrome skos:exactMatch UMLS:C2931036 semapv:UnspecifiedMatching MONDO:0042911 Schwartz-Cohen-addad-Lambert syndrome skos:exactMatch mesh:C535835 semapv:UnspecifiedMatching MONDO:0042912 Schlegelberger-Grote syndrome skos:exactMatch MEDGEN:419761 semapv:UnspecifiedMatching MONDO:0042912 Schlegelberger-Grote syndrome skos:exactMatch UMLS:C2931273 semapv:UnspecifiedMatching MONDO:0042912 Schlegelberger-Grote syndrome skos:exactMatch mesh:C536635 semapv:UnspecifiedMatching MONDO:0042913 Schrander-stumpel-Theunissen-Hulsmans syndrome skos:exactMatch MEDGEN:419033 semapv:UnspecifiedMatching MONDO:0042913 Schrander-stumpel-Theunissen-Hulsmans syndrome skos:exactMatch UMLS:C2931275 semapv:UnspecifiedMatching MONDO:0042913 Schrander-stumpel-Theunissen-Hulsmans syndrome skos:exactMatch mesh:C536639 semapv:UnspecifiedMatching MONDO:0042956 Saal-Bulas syndrome skos:exactMatch MEDGEN:419079 semapv:UnspecifiedMatching MONDO:0042956 Saal-Bulas syndrome skos:exactMatch UMLS:C2931439 semapv:UnspecifiedMatching MONDO:0042956 Saal-Bulas syndrome skos:exactMatch mesh:C537193 semapv:UnspecifiedMatching MONDO:0042960 Sackey-Sakati-Aur syndrome skos:exactMatch MEDGEN:444056 semapv:UnspecifiedMatching MONDO:0042960 Sackey-Sakati-Aur syndrome skos:exactMatch UMLS:C2931442 semapv:UnspecifiedMatching MONDO:0042960 Sackey-Sakati-Aur syndrome skos:exactMatch mesh:C537219 semapv:UnspecifiedMatching MONDO:0042961 sacral hemangiomas multiple congenital abnormalities skos:exactMatch MEDGEN:419414 semapv:UnspecifiedMatching MONDO:0042961 sacral hemangiomas multiple congenital abnormalities skos:exactMatch UMLS:C2931443 semapv:UnspecifiedMatching MONDO:0042961 sacral hemangiomas multiple congenital abnormalities skos:exactMatch mesh:C537222 semapv:UnspecifiedMatching MONDO:0042962 Slti-Salem syndrome skos:exactMatch MEDGEN:419036 semapv:UnspecifiedMatching MONDO:0042962 Slti-Salem syndrome skos:exactMatch UMLS:C2931284 semapv:UnspecifiedMatching MONDO:0042962 Slti-Salem syndrome skos:exactMatch mesh:C536673 semapv:UnspecifiedMatching MONDO:0042963 wandering spleen skos:exactMatch MEDGEN:75782 semapv:UnspecifiedMatching MONDO:0042963 wandering spleen skos:exactMatch NCIT:C85224 Wandering Spleen semapv:UnspecifiedMatching MONDO:0042963 wandering spleen skos:exactMatch SCTID:191384005 semapv:UnspecifiedMatching MONDO:0042963 wandering spleen skos:exactMatch UMLS:C0272414 semapv:UnspecifiedMatching MONDO:0042963 wandering spleen skos:exactMatch mesh:D050805 semapv:UnspecifiedMatching MONDO:0042964 Machado-Joseph disease type 4 skos:exactMatch MEDGEN:673233 semapv:UnspecifiedMatching MONDO:0042964 Machado-Joseph disease type 4 skos:exactMatch SCTID:91956006 semapv:UnspecifiedMatching MONDO:0042964 Machado-Joseph disease type 4 skos:exactMatch UMLS:C0686352 semapv:UnspecifiedMatching MONDO:0042966 inherited mitral valve disease skos:exactMatch MEDGEN:539532 semapv:UnspecifiedMatching MONDO:0042966 inherited mitral valve disease skos:exactMatch SCTID:75372006 semapv:UnspecifiedMatching MONDO:0042966 inherited mitral valve disease skos:exactMatch UMLS:C0265845 semapv:UnspecifiedMatching MONDO:0042967 rheumatic disease of mitral valve skos:exactMatch MEDGEN:538824 semapv:UnspecifiedMatching MONDO:0042967 rheumatic disease of mitral valve skos:exactMatch SCTID:83898004 semapv:UnspecifiedMatching MONDO:0042967 rheumatic disease of mitral valve skos:exactMatch UMLS:C0264765 semapv:UnspecifiedMatching MONDO:0042969 partial duplication of the long arm of chromosome 12 skos:exactMatch MEDGEN:208641 semapv:UnspecifiedMatching MONDO:0042969 partial duplication of the long arm of chromosome 12 skos:exactMatch UMLS:C0795846 semapv:UnspecifiedMatching MONDO:0042969 partial duplication of the long arm of chromosome 12 skos:exactMatch mesh:C538300 semapv:UnspecifiedMatching MONDO:0042970 disorder of glutamate decarboxylase skos:exactMatch MEDGEN:452941 semapv:UnspecifiedMatching MONDO:0042970 disorder of glutamate decarboxylase skos:exactMatch SCTID:124596009 semapv:UnspecifiedMatching MONDO:0042970 disorder of glutamate decarboxylase skos:exactMatch UMLS:C1291560 semapv:UnspecifiedMatching MONDO:0042971 congenital herpes virus infection skos:exactMatch MEDGEN:908142 semapv:UnspecifiedMatching MONDO:0042971 congenital herpes virus infection skos:exactMatch SCTID:715337002 semapv:UnspecifiedMatching MONDO:0042971 congenital herpes virus infection skos:exactMatch UMLS:C4275250 semapv:UnspecifiedMatching MONDO:0042972 meningococcemia skos:exactMatch MEDGEN:6300 semapv:UnspecifiedMatching MONDO:0042972 meningococcemia skos:exactMatch SCTID:4089001 semapv:UnspecifiedMatching MONDO:0042972 meningococcemia skos:exactMatch UMLS:C0025306 semapv:UnspecifiedMatching MONDO:0042974 parainfluenza virus type 3 infectious disease skos:exactMatch MEDGEN:547264 semapv:UnspecifiedMatching MONDO:0042974 parainfluenza virus type 3 infectious disease skos:exactMatch SCTID:30270006 semapv:UnspecifiedMatching MONDO:0042974 parainfluenza virus type 3 infectious disease skos:exactMatch UMLS:C0276324 semapv:UnspecifiedMatching MONDO:0042975 obsolete pseudoachondroplastic dysplasia 2 skos:exactMatch OMIM:264150 semapv:UnspecifiedMatching MONDO:0042975 obsolete pseudoachondroplastic dysplasia 2 skos:exactMatch mesh:C535820 semapv:UnspecifiedMatching MONDO:0042976 vitamin B deficiency skos:exactMatch MEDGEN:22669 semapv:UnspecifiedMatching MONDO:0042976 vitamin B deficiency skos:exactMatch NCIT:C35129 Vitamin B Deficiency semapv:UnspecifiedMatching MONDO:0042976 vitamin B deficiency skos:exactMatch SCTID:47903000 semapv:UnspecifiedMatching MONDO:0042976 vitamin B deficiency skos:exactMatch UMLS:C0042850 semapv:UnspecifiedMatching MONDO:0042976 vitamin B deficiency skos:exactMatch mesh:D014804 semapv:UnspecifiedMatching MONDO:0042977 trichoepithelioma, multiple familial, 1 skos:exactMatch DOID:0061187 multiple familial trichoepithelioma 1 semapv:UnspecifiedMatching MONDO:0042977 trichoepithelioma, multiple familial, 1 skos:exactMatch OMIM:601606 trichoepithelioma, multiple familial, 1 semapv:UnspecifiedMatching MONDO:0042979 hypokalemic periodic paralysis, type 1 skos:exactMatch MEDGEN:811387 semapv:UnspecifiedMatching MONDO:0042979 hypokalemic periodic paralysis, type 1 skos:exactMatch OMIM:170400 hypokalemic periodic paralysis, type 1 semapv:UnspecifiedMatching MONDO:0042979 hypokalemic periodic paralysis, type 1 skos:exactMatch UMLS:C3714580 semapv:UnspecifiedMatching MONDO:0042980 Westphal disease skos:exactMatch MEDGEN:224821 semapv:UnspecifiedMatching MONDO:0042980 Westphal disease skos:exactMatch SCTID:182747006 semapv:UnspecifiedMatching MONDO:0042980 Westphal disease skos:exactMatch UMLS:C1279186 semapv:UnspecifiedMatching MONDO:0042980 Westphal disease skos:exactMatch mesh:C536694 semapv:UnspecifiedMatching MONDO:0042981 aortic valve stenosis skos:exactMatch DOID:1712 aortic valve stenosis semapv:UnspecifiedMatching MONDO:0042981 aortic valve stenosis skos:exactMatch MEDGEN:1621 semapv:UnspecifiedMatching MONDO:0042981 aortic valve stenosis skos:exactMatch NCIT:C50462 Aortic Valve Stenosis semapv:UnspecifiedMatching MONDO:0042981 aortic valve stenosis skos:exactMatch SCTID:60573004 semapv:UnspecifiedMatching MONDO:0042981 aortic valve stenosis skos:exactMatch UMLS:C0003507 semapv:UnspecifiedMatching MONDO:0042981 aortic valve stenosis skos:exactMatch icd11.foundation:956813047 Aortic valve stenosis semapv:UnspecifiedMatching MONDO:0042981 aortic valve stenosis skos:exactMatch mesh:D001024 semapv:UnspecifiedMatching MONDO:0042982 GATA2 deficiency with susceptibility to MDS/AML skos:exactMatch NCIT:C126349 GATA2 Deficiency semapv:UnspecifiedMatching MONDO:0042983 neurocutaneous syndrome skos:exactMatch MEDGEN:82706 semapv:UnspecifiedMatching MONDO:0042983 neurocutaneous syndrome skos:exactMatch NCIT:C84348 Phakomatosis semapv:UnspecifiedMatching MONDO:0042983 neurocutaneous syndrome skos:exactMatch SCTID:78572006 semapv:UnspecifiedMatching MONDO:0042983 neurocutaneous syndrome skos:exactMatch UMLS:C0265316 semapv:UnspecifiedMatching MONDO:0042983 neurocutaneous syndrome skos:exactMatch mesh:D020752 semapv:UnspecifiedMatching MONDO:0043003 familial acanthosis nigricans skos:exactMatch MEDGEN:419638 semapv:UnspecifiedMatching MONDO:0043003 familial acanthosis nigricans skos:exactMatch OMIM:100600 acanthosis nigricans semapv:UnspecifiedMatching MONDO:0043003 familial acanthosis nigricans skos:exactMatch UMLS:C2930792 semapv:UnspecifiedMatching MONDO:0043003 familial acanthosis nigricans skos:exactMatch mesh:C531598 semapv:UnspecifiedMatching MONDO:0043004 Weil's disease skos:exactMatch ICD10CM:A27.0 Leptospirosis icterohemorrhagica semapv:UnspecifiedMatching MONDO:0043004 Weil's disease skos:exactMatch MEDGEN:21912 semapv:UnspecifiedMatching MONDO:0043004 Weil's disease skos:exactMatch SCTID:398067003 semapv:UnspecifiedMatching MONDO:0043004 Weil's disease skos:exactMatch UMLS:C0043102 semapv:UnspecifiedMatching MONDO:0043004 Weil's disease skos:exactMatch mesh:D014895 semapv:UnspecifiedMatching MONDO:0043005 obsolete genetic multiple congenital anomalies/dysmorphic syndrome skos:exactMatch Orphanet:183533 Genetic multiple congenital anomalies/dysmorphic syndrome semapv:UnspecifiedMatching MONDO:0043007 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome skos:exactMatch Orphanet:330197 OBSOLETE: Genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0043008 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability skos:exactMatch Orphanet:330206 Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability semapv:UnspecifiedMatching MONDO:0043009 hereditary lethal multiple congenital anomalies/dysmorphic syndrome skos:exactMatch MEDGEN:1843298 semapv:UnspecifiedMatching MONDO:0043009 hereditary lethal multiple congenital anomalies/dysmorphic syndrome skos:exactMatch Orphanet:471383 Genetic lethal multiple congenital anomalies/dysmorphic syndrome semapv:UnspecifiedMatching MONDO:0043009 hereditary lethal multiple congenital anomalies/dysmorphic syndrome skos:exactMatch UMLS:C5681265 semapv:UnspecifiedMatching MONDO:0043069 Zerres Rietschel Majewski syndrome skos:exactMatch MEDGEN:419769 semapv:UnspecifiedMatching MONDO:0043069 Zerres Rietschel Majewski syndrome skos:exactMatch UMLS:C2931301 semapv:UnspecifiedMatching MONDO:0043069 Zerres Rietschel Majewski syndrome skos:exactMatch mesh:C536724 semapv:UnspecifiedMatching MONDO:0043071 Zazam Sheriff Phillips syndrome skos:exactMatch MEDGEN:419768 semapv:UnspecifiedMatching MONDO:0043071 Zazam Sheriff Phillips syndrome skos:exactMatch UMLS:C2931300 semapv:UnspecifiedMatching MONDO:0043071 Zazam Sheriff Phillips syndrome skos:exactMatch mesh:C536723 semapv:UnspecifiedMatching MONDO:0043073 Zadik-Barak-Levin syndrome skos:exactMatch MEDGEN:444023 semapv:UnspecifiedMatching MONDO:0043073 Zadik-Barak-Levin syndrome skos:exactMatch UMLS:C2931298 semapv:UnspecifiedMatching MONDO:0043073 Zadik-Barak-Levin syndrome skos:exactMatch mesh:C536721 semapv:UnspecifiedMatching MONDO:0043075 neuroaxonal dystrophy renal tubular acidosis skos:exactMatch MEDGEN:419816 semapv:UnspecifiedMatching MONDO:0043075 neuroaxonal dystrophy renal tubular acidosis skos:exactMatch UMLS:C2931479 semapv:UnspecifiedMatching MONDO:0043075 neuroaxonal dystrophy renal tubular acidosis skos:exactMatch mesh:C537386 semapv:UnspecifiedMatching MONDO:0043077 weinstein kliman scully syndrome skos:exactMatch MEDGEN:419765 semapv:UnspecifiedMatching MONDO:0043077 weinstein kliman scully syndrome skos:exactMatch UMLS:C2931289 semapv:UnspecifiedMatching MONDO:0043077 weinstein kliman scully syndrome skos:exactMatch mesh:C536688 semapv:UnspecifiedMatching MONDO:0043079 obsolete acute articular rheumatism skos:exactMatch SCTID:81077008 semapv:UnspecifiedMatching MONDO:0043083 coronal synostosis, syndactyly and jejunal atresia skos:exactMatch MEDGEN:419740 semapv:UnspecifiedMatching MONDO:0043083 coronal synostosis, syndactyly and jejunal atresia skos:exactMatch UMLS:C2931194 semapv:UnspecifiedMatching MONDO:0043083 coronal synostosis, syndactyly and jejunal atresia skos:exactMatch mesh:C536445 semapv:UnspecifiedMatching MONDO:0043085 chromosome 1, uniparental disomy 1q12 q21 skos:exactMatch MEDGEN:419882 semapv:UnspecifiedMatching MONDO:0043085 chromosome 1, uniparental disomy 1q12 q21 skos:exactMatch UMLS:C2931726 semapv:UnspecifiedMatching MONDO:0043085 chromosome 1, uniparental disomy 1q12 q21 skos:exactMatch mesh:C538085 semapv:UnspecifiedMatching MONDO:0043087 thickened earlobes with conductive deafness from incus-stapes abnormalities skos:exactMatch MEDGEN:419750 semapv:UnspecifiedMatching MONDO:0043087 thickened earlobes with conductive deafness from incus-stapes abnormalities skos:exactMatch UMLS:C2931222 semapv:UnspecifiedMatching MONDO:0043087 thickened earlobes with conductive deafness from incus-stapes abnormalities skos:exactMatch mesh:C536511 semapv:UnspecifiedMatching MONDO:0043089 acute posterior multifocal placoid pigment epitheliopathy skos:exactMatch ICD10CM:H30.14 Acute posterior multifocal placoid pigment epitheliopathy semapv:UnspecifiedMatching MONDO:0043089 acute posterior multifocal placoid pigment epitheliopathy skos:exactMatch MEDGEN:56348 semapv:UnspecifiedMatching MONDO:0043089 acute posterior multifocal placoid pigment epitheliopathy skos:exactMatch SCTID:89188001 semapv:UnspecifiedMatching MONDO:0043089 acute posterior multifocal placoid pigment epitheliopathy skos:exactMatch UMLS:C0154884 semapv:UnspecifiedMatching MONDO:0043089 acute posterior multifocal placoid pigment epitheliopathy skos:exactMatch icd11.foundation:2036282532 Acute posterior multifocal placoid pigment epitheliopathy semapv:UnspecifiedMatching MONDO:0043094 ichthyosis, follicular skos:exactMatch MEDGEN:98025 semapv:UnspecifiedMatching MONDO:0043094 ichthyosis, follicular skos:exactMatch SCTID:238627002 semapv:UnspecifiedMatching MONDO:0043094 ichthyosis, follicular skos:exactMatch UMLS:C0406344 semapv:UnspecifiedMatching MONDO:0043096 holoacardius amorphus skos:exactMatch MEDGEN:75621 semapv:UnspecifiedMatching MONDO:0043096 holoacardius amorphus skos:exactMatch SCTID:41049003 semapv:UnspecifiedMatching MONDO:0043096 holoacardius amorphus skos:exactMatch UMLS:C0266719 semapv:UnspecifiedMatching MONDO:0043099 Hordnes Engebretsen Knudtson syndrome skos:exactMatch MEDGEN:419333 semapv:UnspecifiedMatching MONDO:0043099 Hordnes Engebretsen Knudtson syndrome skos:exactMatch UMLS:C2931100 semapv:UnspecifiedMatching MONDO:0043099 Hordnes Engebretsen Knudtson syndrome skos:exactMatch mesh:C536067 semapv:UnspecifiedMatching MONDO:0043101 hypothalamic dysfunction skos:exactMatch MEDGEN:155833 semapv:UnspecifiedMatching MONDO:0043101 hypothalamic dysfunction skos:exactMatch SCTID:111568001 semapv:UnspecifiedMatching MONDO:0043101 hypothalamic dysfunction skos:exactMatch UMLS:C0751230 semapv:UnspecifiedMatching MONDO:0043103 hypothyroidism due to iodide transport defect skos:exactMatch MEDGEN:124412 semapv:UnspecifiedMatching MONDO:0043103 hypothyroidism due to iodide transport defect skos:exactMatch NCIT:C121747 Iodide Transport Defect semapv:UnspecifiedMatching MONDO:0043103 hypothyroidism due to iodide transport defect skos:exactMatch SCTID:22558005 semapv:UnspecifiedMatching MONDO:0043103 hypothyroidism due to iodide transport defect skos:exactMatch UMLS:C0271826 semapv:UnspecifiedMatching MONDO:0043106 ichthyosis linearis circumflexa skos:exactMatch MEDGEN:78578 semapv:UnspecifiedMatching MONDO:0043106 ichthyosis linearis circumflexa skos:exactMatch SCTID:54336006 semapv:UnspecifiedMatching MONDO:0043106 ichthyosis linearis circumflexa skos:exactMatch UMLS:C0265962 semapv:UnspecifiedMatching MONDO:0043110 jones hersh yusk syndrome skos:exactMatch MEDGEN:418974 semapv:UnspecifiedMatching MONDO:0043110 jones hersh yusk syndrome skos:exactMatch UMLS:C2931054 semapv:UnspecifiedMatching MONDO:0043110 jones hersh yusk syndrome skos:exactMatch mesh:C535885 semapv:UnspecifiedMatching MONDO:0043112 lachiewicz sibley syndrome skos:exactMatch MEDGEN:419151 semapv:UnspecifiedMatching MONDO:0043112 lachiewicz sibley syndrome skos:exactMatch UMLS:C2931742 semapv:UnspecifiedMatching MONDO:0043112 lachiewicz sibley syndrome skos:exactMatch mesh:C538131 semapv:UnspecifiedMatching MONDO:0043114 Landy-Donnai syndrome skos:exactMatch MEDGEN:419417 semapv:UnspecifiedMatching MONDO:0043114 Landy-Donnai syndrome skos:exactMatch UMLS:C2931460 semapv:UnspecifiedMatching MONDO:0043114 Landy-Donnai syndrome skos:exactMatch mesh:C537266 semapv:UnspecifiedMatching MONDO:0043116 Iida Kannari syndrome skos:exactMatch MEDGEN:443989 semapv:UnspecifiedMatching MONDO:0043116 Iida Kannari syndrome skos:exactMatch UMLS:C2931159 semapv:UnspecifiedMatching MONDO:0043116 Iida Kannari syndrome skos:exactMatch mesh:C536284 semapv:UnspecifiedMatching MONDO:0043120 male pseudohermaphroditism due to defective lh molecule skos:exactMatch MEDGEN:372012 semapv:UnspecifiedMatching MONDO:0043120 male pseudohermaphroditism due to defective lh molecule skos:exactMatch UMLS:C1835303 semapv:UnspecifiedMatching MONDO:0043120 male pseudohermaphroditism due to defective lh molecule skos:exactMatch mesh:C535692 semapv:UnspecifiedMatching MONDO:0043123 massa casaer ceulemans syndrome skos:exactMatch MEDGEN:418986 semapv:UnspecifiedMatching MONDO:0043123 massa casaer ceulemans syndrome skos:exactMatch UMLS:C2931090 semapv:UnspecifiedMatching MONDO:0043123 massa casaer ceulemans syndrome skos:exactMatch mesh:C536031 semapv:UnspecifiedMatching MONDO:0043125 mcpherson robertson cammarano syndrome skos:exactMatch MEDGEN:419888 semapv:UnspecifiedMatching MONDO:0043125 mcpherson robertson cammarano syndrome skos:exactMatch UMLS:C2931751 semapv:UnspecifiedMatching MONDO:0043125 mcpherson robertson cammarano syndrome skos:exactMatch mesh:C538161 semapv:UnspecifiedMatching MONDO:0043127 mehta lewis patton syndrome skos:exactMatch MEDGEN:419340 semapv:UnspecifiedMatching MONDO:0043127 mehta lewis patton syndrome skos:exactMatch UMLS:C2931120 semapv:UnspecifiedMatching MONDO:0043127 mehta lewis patton syndrome skos:exactMatch mesh:C536147 semapv:UnspecifiedMatching MONDO:0043129 merlob grunebaum reisner syndrome skos:exactMatch MEDGEN:419427 semapv:UnspecifiedMatching MONDO:0043129 merlob grunebaum reisner syndrome skos:exactMatch UMLS:C2931499 semapv:UnspecifiedMatching MONDO:0043129 merlob grunebaum reisner syndrome skos:exactMatch mesh:C537461 semapv:UnspecifiedMatching MONDO:0043131 Michels Caskey syndrome skos:exactMatch MEDGEN:419102 semapv:UnspecifiedMatching MONDO:0043131 Michels Caskey syndrome skos:exactMatch UMLS:C2931537 semapv:UnspecifiedMatching MONDO:0043131 Michels Caskey syndrome skos:exactMatch mesh:C537576 semapv:UnspecifiedMatching MONDO:0043133 microcephaly micropenis convulsions skos:exactMatch MEDGEN:444076 semapv:UnspecifiedMatching MONDO:0043133 microcephaly micropenis convulsions skos:exactMatch UMLS:C2931525 semapv:UnspecifiedMatching MONDO:0043133 microcephaly micropenis convulsions skos:exactMatch mesh:C537540 semapv:UnspecifiedMatching MONDO:0043135 microcephaly microphthalmos blindness skos:exactMatch MEDGEN:419434 semapv:UnspecifiedMatching MONDO:0043135 microcephaly microphthalmos blindness skos:exactMatch UMLS:C2931526 semapv:UnspecifiedMatching MONDO:0043135 microcephaly microphthalmos blindness skos:exactMatch mesh:C537541 semapv:UnspecifiedMatching MONDO:0043137 isolated microcephaly skos:exactMatch MEDGEN:419828 semapv:UnspecifiedMatching MONDO:0043137 isolated microcephaly skos:exactMatch UMLS:C2931527 semapv:UnspecifiedMatching MONDO:0043137 isolated microcephaly skos:exactMatch mesh:C537542 semapv:UnspecifiedMatching MONDO:0043139 microcephaly sparse hair intellectual disability seizures skos:exactMatch MEDGEN:444077 semapv:UnspecifiedMatching MONDO:0043139 microcephaly sparse hair intellectual disability seizures skos:exactMatch UMLS:C2931530 semapv:UnspecifiedMatching MONDO:0043139 microcephaly sparse hair intellectual disability seizures skos:exactMatch mesh:C537545 semapv:UnspecifiedMatching MONDO:0043141 microdontia hypodontia short stature skos:exactMatch MEDGEN:419435 semapv:UnspecifiedMatching MONDO:0043141 microdontia hypodontia short stature skos:exactMatch UMLS:C2931532 semapv:UnspecifiedMatching MONDO:0043141 microdontia hypodontia short stature skos:exactMatch mesh:C537553 semapv:UnspecifiedMatching MONDO:0043143 microphthalmia microtia fetal akinesia skos:exactMatch MEDGEN:444005 semapv:UnspecifiedMatching MONDO:0043143 microphthalmia microtia fetal akinesia skos:exactMatch Orphanet:2547 Microphthalmia-microtia-fetal akinesia syndrome semapv:UnspecifiedMatching MONDO:0043143 microphthalmia microtia fetal akinesia skos:exactMatch UMLS:C2931224 semapv:UnspecifiedMatching MONDO:0043143 microphthalmia microtia fetal akinesia skos:exactMatch mesh:C536513 semapv:UnspecifiedMatching MONDO:0043152 negative rheumatoid factor polyarthritis skos:exactMatch MEDGEN:444150 semapv:UnspecifiedMatching MONDO:0043152 negative rheumatoid factor polyarthritis skos:exactMatch UMLS:C2931825 semapv:UnspecifiedMatching MONDO:0043152 negative rheumatoid factor polyarthritis skos:exactMatch mesh:C538347 semapv:UnspecifiedMatching MONDO:0043154 neonatal ovarian cyst skos:exactMatch MEDGEN:443996 semapv:UnspecifiedMatching MONDO:0043154 neonatal ovarian cyst skos:exactMatch UMLS:C2931186 semapv:UnspecifiedMatching MONDO:0043154 neonatal ovarian cyst skos:exactMatch mesh:C536396 semapv:UnspecifiedMatching MONDO:0043156 nephrotic syndrome ocular anomalies skos:exactMatch MEDGEN:419736 semapv:UnspecifiedMatching MONDO:0043156 nephrotic syndrome ocular anomalies skos:exactMatch UMLS:C2931188 semapv:UnspecifiedMatching MONDO:0043156 nephrotic syndrome ocular anomalies skos:exactMatch mesh:C536403 semapv:UnspecifiedMatching MONDO:0043162 pagon stephan syndrome skos:exactMatch MEDGEN:419885 semapv:UnspecifiedMatching MONDO:0043162 pagon stephan syndrome skos:exactMatch UMLS:C2931733 semapv:UnspecifiedMatching MONDO:0043162 pagon stephan syndrome skos:exactMatch mesh:C538100 semapv:UnspecifiedMatching MONDO:0043164 palmer pagon syndrome skos:exactMatch MEDGEN:419886 semapv:UnspecifiedMatching MONDO:0043164 palmer pagon syndrome skos:exactMatch Orphanet:2184 Hydrocephaly-low insertion umbilicus syndrome semapv:UnspecifiedMatching MONDO:0043164 palmer pagon syndrome skos:exactMatch UMLS:C2931734 semapv:UnspecifiedMatching MONDO:0043164 palmer pagon syndrome skos:exactMatch mesh:C538107 semapv:UnspecifiedMatching MONDO:0043166 pancreatic lipomatosis duodenal stenosis skos:exactMatch MEDGEN:419702 semapv:UnspecifiedMatching MONDO:0043166 pancreatic lipomatosis duodenal stenosis skos:exactMatch UMLS:C2931040 semapv:UnspecifiedMatching MONDO:0043166 pancreatic lipomatosis duodenal stenosis skos:exactMatch mesh:C535839 semapv:UnspecifiedMatching MONDO:0043168 panostotic fibrous dysplasia skos:exactMatch MEDGEN:419799 semapv:UnspecifiedMatching MONDO:0043168 panostotic fibrous dysplasia skos:exactMatch UMLS:C2931430 semapv:UnspecifiedMatching MONDO:0043168 panostotic fibrous dysplasia skos:exactMatch mesh:C537164 semapv:UnspecifiedMatching MONDO:0043170 Pavone Fiumara Rizzo syndrome skos:exactMatch MEDGEN:419352 semapv:UnspecifiedMatching MONDO:0043170 Pavone Fiumara Rizzo syndrome skos:exactMatch UMLS:C2931172 semapv:UnspecifiedMatching MONDO:0043170 Pavone Fiumara Rizzo syndrome skos:exactMatch mesh:C536313 semapv:UnspecifiedMatching MONDO:0043172 pfeiffer rockelein syndrome skos:exactMatch MEDGEN:419465 semapv:UnspecifiedMatching MONDO:0043172 pfeiffer rockelein syndrome skos:exactMatch UMLS:C2931656 semapv:UnspecifiedMatching MONDO:0043172 pfeiffer rockelein syndrome skos:exactMatch mesh:C537890 semapv:UnspecifiedMatching MONDO:0043174 Pfeiffer Tietze Welte syndrome skos:exactMatch MEDGEN:419859 semapv:UnspecifiedMatching MONDO:0043174 Pfeiffer Tietze Welte syndrome skos:exactMatch UMLS:C2931657 semapv:UnspecifiedMatching MONDO:0043174 Pfeiffer Tietze Welte syndrome skos:exactMatch mesh:C537891 semapv:UnspecifiedMatching MONDO:0043176 phosphoribosylpyrophosphate synthetase deficiency skos:exactMatch MEDGEN:220944 semapv:UnspecifiedMatching MONDO:0043176 phosphoribosylpyrophosphate synthetase deficiency skos:exactMatch SCTID:124343001 semapv:UnspecifiedMatching MONDO:0043176 phosphoribosylpyrophosphate synthetase deficiency skos:exactMatch UMLS:C1291401 semapv:UnspecifiedMatching MONDO:0043176 phosphoribosylpyrophosphate synthetase deficiency skos:exactMatch mesh:C535995 semapv:UnspecifiedMatching MONDO:0043176 phosphoribosylpyrophosphate synthetase deficiency skos:exactMatch mesh:C537897 semapv:UnspecifiedMatching MONDO:0043179 piepkorn karp hickok syndrome skos:exactMatch MEDGEN:418962 semapv:UnspecifiedMatching MONDO:0043179 piepkorn karp hickok syndrome skos:exactMatch UMLS:C2931016 semapv:UnspecifiedMatching MONDO:0043179 piepkorn karp hickok syndrome skos:exactMatch mesh:C535774 semapv:UnspecifiedMatching MONDO:0043183 podder-tolmie syndrome skos:exactMatch MEDGEN:419827 semapv:UnspecifiedMatching MONDO:0043183 podder-tolmie syndrome skos:exactMatch UMLS:C2931519 semapv:UnspecifiedMatching MONDO:0043183 podder-tolmie syndrome skos:exactMatch mesh:C537518 semapv:UnspecifiedMatching MONDO:0043185 pointer syndrome skos:exactMatch MEDGEN:208668 semapv:UnspecifiedMatching MONDO:0043185 pointer syndrome skos:exactMatch UMLS:C0796118 semapv:UnspecifiedMatching MONDO:0043185 pointer syndrome skos:exactMatch mesh:C536323 semapv:UnspecifiedMatching MONDO:0043191 radial defect robin sequence skos:exactMatch MEDGEN:419346 semapv:UnspecifiedMatching MONDO:0043191 radial defect robin sequence skos:exactMatch UMLS:C2931143 semapv:UnspecifiedMatching MONDO:0043191 radial defect robin sequence skos:exactMatch mesh:C536261 semapv:UnspecifiedMatching MONDO:0043193 richieri-costa guion-almeida cohen syndrome skos:exactMatch MEDGEN:419687 semapv:UnspecifiedMatching MONDO:0043193 richieri-costa guion-almeida cohen syndrome skos:exactMatch UMLS:C2930979 semapv:UnspecifiedMatching MONDO:0043193 richieri-costa guion-almeida cohen syndrome skos:exactMatch mesh:C535676 semapv:UnspecifiedMatching MONDO:0043195 Rubinstein Taybi like syndrome skos:exactMatch MEDGEN:418972 semapv:UnspecifiedMatching MONDO:0043195 Rubinstein Taybi like syndrome skos:exactMatch UMLS:C2931052 semapv:UnspecifiedMatching MONDO:0043195 Rubinstein Taybi like syndrome skos:exactMatch mesh:C535877 semapv:UnspecifiedMatching MONDO:0043197 ruvalcaba churesigaew myhre syndrome skos:exactMatch MEDGEN:419412 semapv:UnspecifiedMatching MONDO:0043197 ruvalcaba churesigaew myhre syndrome skos:exactMatch UMLS:C2931437 semapv:UnspecifiedMatching MONDO:0043197 ruvalcaba churesigaew myhre syndrome skos:exactMatch mesh:C537190 semapv:UnspecifiedMatching MONDO:0043199 short limb dwarf lethal colavita kozlowski type skos:exactMatch MEDGEN:419106 semapv:UnspecifiedMatching MONDO:0043199 short limb dwarf lethal colavita kozlowski type skos:exactMatch UMLS:C2931544 semapv:UnspecifiedMatching MONDO:0043199 short limb dwarf lethal colavita kozlowski type skos:exactMatch mesh:C537597 semapv:UnspecifiedMatching MONDO:0043206 trichostasis spinulosa skos:exactMatch MEDGEN:82669 semapv:UnspecifiedMatching MONDO:0043206 trichostasis spinulosa skos:exactMatch SCTID:21049007 semapv:UnspecifiedMatching MONDO:0043206 trichostasis spinulosa skos:exactMatch UMLS:C0263487 semapv:UnspecifiedMatching MONDO:0043206 trichostasis spinulosa skos:exactMatch icd11.foundation:509265047 Trichostasis spinulosa semapv:UnspecifiedMatching MONDO:0043206 trichostasis spinulosa skos:exactMatch mesh:C536558 semapv:UnspecifiedMatching MONDO:0043207 urethral obstruction sequence skos:exactMatch MEDGEN:75568 semapv:UnspecifiedMatching MONDO:0043207 urethral obstruction sequence skos:exactMatch SCTID:18241005 semapv:UnspecifiedMatching MONDO:0043207 urethral obstruction sequence skos:exactMatch UMLS:C0265363 semapv:UnspecifiedMatching MONDO:0043207 urethral obstruction sequence skos:exactMatch mesh:C536477 semapv:UnspecifiedMatching MONDO:0043209 albinism skos:exactMatch ICD10CM:E70.3 Albinism semapv:UnspecifiedMatching MONDO:0043209 albinism skos:exactMatch MEDGEN:182 semapv:UnspecifiedMatching MONDO:0043209 albinism skos:exactMatch NCIT:C84543 Albinism semapv:UnspecifiedMatching MONDO:0043209 albinism skos:exactMatch SCTID:15890002 semapv:UnspecifiedMatching MONDO:0043209 albinism skos:exactMatch UMLS:C0001916 semapv:UnspecifiedMatching MONDO:0043209 albinism skos:exactMatch mesh:D000417 semapv:UnspecifiedMatching MONDO:0043218 neurovascular disorder skos:exactMatch MEDGEN:857738 semapv:UnspecifiedMatching MONDO:0043218 neurovascular disorder skos:exactMatch NCIT:C117007 Neurovascular Disorder semapv:UnspecifiedMatching MONDO:0043218 neurovascular disorder skos:exactMatch UMLS:C3898144 semapv:UnspecifiedMatching MONDO:0043219 migraine with brainstem aura skos:exactMatch MEDGEN:82857 semapv:UnspecifiedMatching MONDO:0043219 migraine with brainstem aura skos:exactMatch NCIT:C117013 Basilar-Type Migraine semapv:UnspecifiedMatching MONDO:0043219 migraine with brainstem aura skos:exactMatch SCTID:83351003 semapv:UnspecifiedMatching MONDO:0043219 migraine with brainstem aura skos:exactMatch UMLS:C0270860 semapv:UnspecifiedMatching MONDO:0043219 migraine with brainstem aura skos:exactMatch icd11.foundation:2022157084 Migraine with brainstem aura semapv:UnspecifiedMatching MONDO:0043224 multi-infarct dementia skos:exactMatch MEDGEN:8277 semapv:UnspecifiedMatching MONDO:0043224 multi-infarct dementia skos:exactMatch NCIT:C34522 Multi-Infarct Dementia semapv:UnspecifiedMatching MONDO:0043224 multi-infarct dementia skos:exactMatch SCTID:56267009 semapv:UnspecifiedMatching MONDO:0043224 multi-infarct dementia skos:exactMatch UMLS:C0011263 semapv:UnspecifiedMatching MONDO:0043224 multi-infarct dementia skos:exactMatch icd11.foundation:645643099 Multi-infarct dementia semapv:UnspecifiedMatching MONDO:0043224 multi-infarct dementia skos:exactMatch mesh:D015161 semapv:UnspecifiedMatching MONDO:0043226 postpartum amenorrhea-galactorrhea syndrome skos:exactMatch MEDGEN:2993 semapv:UnspecifiedMatching MONDO:0043226 postpartum amenorrhea-galactorrhea syndrome skos:exactMatch SCTID:85039006 semapv:UnspecifiedMatching MONDO:0043226 postpartum amenorrhea-galactorrhea syndrome skos:exactMatch UMLS:C0008043 semapv:UnspecifiedMatching MONDO:0043226 postpartum amenorrhea-galactorrhea syndrome skos:exactMatch mesh:D002640 semapv:UnspecifiedMatching MONDO:0043230 ciguatera fish poisoning skos:exactMatch EFO:1001291 semapv:UnspecifiedMatching MONDO:0043230 ciguatera fish poisoning skos:exactMatch ICD10CM:T61.0 Ciguatera fish poisoning semapv:UnspecifiedMatching MONDO:0043230 ciguatera fish poisoning skos:exactMatch SCTID:241774007 semapv:UnspecifiedMatching MONDO:0043230 ciguatera fish poisoning skos:exactMatch mesh:D036841 semapv:UnspecifiedMatching MONDO:0043233 exfoliative dermatitis skos:exactMatch EFO:0009456 semapv:UnspecifiedMatching MONDO:0043233 exfoliative dermatitis skos:exactMatch ICD10CM:L26 Exfoliative dermatitis semapv:UnspecifiedMatching MONDO:0043233 exfoliative dermatitis skos:exactMatch ICD10WHO:L26 Exfoliative dermatitis semapv:UnspecifiedMatching MONDO:0043233 exfoliative dermatitis skos:exactMatch MEDGEN:3767 semapv:UnspecifiedMatching MONDO:0043233 exfoliative dermatitis skos:exactMatch NCIT:C39646 Erythroderma semapv:UnspecifiedMatching MONDO:0043233 exfoliative dermatitis skos:exactMatch SCTID:399992009 semapv:UnspecifiedMatching MONDO:0043233 exfoliative dermatitis skos:exactMatch UMLS:C0011606 semapv:UnspecifiedMatching MONDO:0043233 exfoliative dermatitis skos:exactMatch mesh:D003873 semapv:UnspecifiedMatching MONDO:0043237 glossodynia skos:exactMatch ICD10CM:K14.6 Glossodynia semapv:UnspecifiedMatching MONDO:0043237 glossodynia skos:exactMatch MEDGEN:6617 semapv:UnspecifiedMatching MONDO:0043237 glossodynia skos:exactMatch SCTID:30731004 semapv:UnspecifiedMatching MONDO:0043237 glossodynia skos:exactMatch UMLS:C0017672 semapv:UnspecifiedMatching MONDO:0043237 glossodynia skos:exactMatch icd11.foundation:1755751917 Glossodynia semapv:UnspecifiedMatching MONDO:0043237 glossodynia skos:exactMatch mesh:D005926 semapv:UnspecifiedMatching MONDO:0043240 hemophilic arthropathy skos:exactMatch ICD10CM:M36.2 Hemophilic arthropathy semapv:UnspecifiedMatching MONDO:0043240 hemophilic arthropathy skos:exactMatch MEDGEN:120487 semapv:UnspecifiedMatching MONDO:0043240 hemophilic arthropathy skos:exactMatch NCIT:C27039 Hemophilic Arthritis semapv:UnspecifiedMatching MONDO:0043240 hemophilic arthropathy skos:exactMatch SCTID:80813006 semapv:UnspecifiedMatching MONDO:0043240 hemophilic arthropathy skos:exactMatch UMLS:C0263725 semapv:UnspecifiedMatching MONDO:0043243 leukoplakia skos:exactMatch MEDGEN:44133 semapv:UnspecifiedMatching MONDO:0043243 leukoplakia skos:exactMatch NCIT:C3186 Leukoplakia semapv:UnspecifiedMatching MONDO:0043243 leukoplakia skos:exactMatch SCTID:274134003 semapv:UnspecifiedMatching MONDO:0043243 leukoplakia skos:exactMatch UMLS:C0023531 semapv:UnspecifiedMatching MONDO:0043243 leukoplakia skos:exactMatch mesh:D007971 semapv:UnspecifiedMatching MONDO:0043247 Mallory-Weiss syndrome skos:exactMatch ICD10CM:K22.6 Gastro-esophageal laceration-hemorrhage syndrome semapv:UnspecifiedMatching MONDO:0043247 Mallory-Weiss syndrome skos:exactMatch MEDGEN:44265 semapv:UnspecifiedMatching MONDO:0043247 Mallory-Weiss syndrome skos:exactMatch NCIT:C84881 Mallory-Weiss Syndrome semapv:UnspecifiedMatching MONDO:0043247 Mallory-Weiss syndrome skos:exactMatch SCTID:35265002 semapv:UnspecifiedMatching MONDO:0043247 Mallory-Weiss syndrome skos:exactMatch UMLS:C0024633 semapv:UnspecifiedMatching MONDO:0043247 Mallory-Weiss syndrome skos:exactMatch mesh:D008309 semapv:UnspecifiedMatching MONDO:0043251 odontoma skos:exactMatch MEDGEN:45181 semapv:UnspecifiedMatching MONDO:0043251 odontoma skos:exactMatch NCIT:C3287 Odontoma semapv:UnspecifiedMatching MONDO:0043251 odontoma skos:exactMatch UMLS:C0028882 semapv:UnspecifiedMatching MONDO:0043251 odontoma skos:exactMatch mesh:D009810 semapv:UnspecifiedMatching MONDO:0043254 papular urticaria skos:exactMatch MEDGEN:78091 semapv:UnspecifiedMatching MONDO:0043254 papular urticaria skos:exactMatch SCTID:55608001 semapv:UnspecifiedMatching MONDO:0043254 papular urticaria skos:exactMatch UMLS:C0263352 semapv:UnspecifiedMatching MONDO:0043254 papular urticaria skos:exactMatch icd11.foundation:1014677494 Papular urticaria semapv:UnspecifiedMatching MONDO:0043254 papular urticaria skos:exactMatch mesh:C537169 semapv:UnspecifiedMatching MONDO:0043257 pemphigus and fogo selvagem skos:exactMatch MEDGEN:120470 semapv:UnspecifiedMatching MONDO:0043257 pemphigus and fogo selvagem skos:exactMatch Orphanet:636955 Endemic pemphigus foliaceus semapv:UnspecifiedMatching MONDO:0043257 pemphigus and fogo selvagem skos:exactMatch SCTID:46459009 semapv:UnspecifiedMatching MONDO:0043257 pemphigus and fogo selvagem skos:exactMatch UMLS:C0263314 semapv:UnspecifiedMatching MONDO:0043257 pemphigus and fogo selvagem skos:exactMatch mesh:C535551 semapv:UnspecifiedMatching MONDO:0043264 post-traumatic epilepsy skos:exactMatch MEDGEN:4991 semapv:UnspecifiedMatching MONDO:0043264 post-traumatic epilepsy skos:exactMatch SCTID:75023009 semapv:UnspecifiedMatching MONDO:0043264 post-traumatic epilepsy skos:exactMatch UMLS:C0014557 semapv:UnspecifiedMatching MONDO:0043264 post-traumatic epilepsy skos:exactMatch mesh:D004834 semapv:UnspecifiedMatching MONDO:0043267 rheumatoid vasculitis skos:exactMatch MEDGEN:69122 semapv:UnspecifiedMatching MONDO:0043267 rheumatoid vasculitis skos:exactMatch SCTID:400054000 semapv:UnspecifiedMatching MONDO:0043267 rheumatoid vasculitis skos:exactMatch UMLS:C0240903 semapv:UnspecifiedMatching MONDO:0043267 rheumatoid vasculitis skos:exactMatch icd11.foundation:1398254566 Rheumatoid vasculitis semapv:UnspecifiedMatching MONDO:0043267 rheumatoid vasculitis skos:exactMatch mesh:D056653 semapv:UnspecifiedMatching MONDO:0043275 TORCH syndrome skos:exactMatch DOID:0080835 TORCH syndrome semapv:UnspecifiedMatching MONDO:0043275 TORCH syndrome skos:exactMatch MEDGEN:78715 semapv:UnspecifiedMatching MONDO:0043275 TORCH syndrome skos:exactMatch NCIT:C98609 TORCH Syndrome semapv:UnspecifiedMatching MONDO:0043275 TORCH syndrome skos:exactMatch SCTID:41679006 semapv:UnspecifiedMatching MONDO:0043275 TORCH syndrome skos:exactMatch UMLS:C0270173 semapv:UnspecifiedMatching MONDO:0043277 mosaic trisomy 6 skos:exactMatch MEDGEN:96603 semapv:UnspecifiedMatching MONDO:0043277 mosaic trisomy 6 skos:exactMatch SCTID:205647005 semapv:UnspecifiedMatching MONDO:0043277 mosaic trisomy 6 skos:exactMatch UMLS:C0432414 semapv:UnspecifiedMatching MONDO:0043280 Wallerian degeneration skos:exactMatch MEDGEN:12132 semapv:UnspecifiedMatching MONDO:0043280 Wallerian degeneration skos:exactMatch NCIT:C85223 Wallerian Degeneration semapv:UnspecifiedMatching MONDO:0043280 Wallerian degeneration skos:exactMatch UMLS:C0043020 semapv:UnspecifiedMatching MONDO:0043280 Wallerian degeneration skos:exactMatch mesh:D014855 semapv:UnspecifiedMatching MONDO:0043283 silicosiderosis skos:exactMatch MEDGEN:5480 semapv:UnspecifiedMatching MONDO:0043283 silicosiderosis skos:exactMatch SCTID:34004002 semapv:UnspecifiedMatching MONDO:0043283 silicosiderosis skos:exactMatch UMLS:C0018929 semapv:UnspecifiedMatching MONDO:0043283 silicosiderosis skos:exactMatch icd11.foundation:273225437 Silicosiderosis semapv:UnspecifiedMatching MONDO:0043283 silicosiderosis skos:exactMatch mesh:C537337 semapv:UnspecifiedMatching MONDO:0043287 superior vena cava syndrome skos:exactMatch MEDGEN:52576 semapv:UnspecifiedMatching MONDO:0043287 superior vena cava syndrome skos:exactMatch NCIT:C3396 Superior Vena Cava Syndrome semapv:UnspecifiedMatching MONDO:0043287 superior vena cava syndrome skos:exactMatch SCTID:63363004 semapv:UnspecifiedMatching MONDO:0043287 superior vena cava syndrome skos:exactMatch UMLS:C0038833 semapv:UnspecifiedMatching MONDO:0043287 superior vena cava syndrome skos:exactMatch mesh:D013479 semapv:UnspecifiedMatching MONDO:0043291 Rokitansky-Aschoff sinuses of the gallbladder skos:exactMatch MEDGEN:78636 semapv:UnspecifiedMatching MONDO:0043291 Rokitansky-Aschoff sinuses of the gallbladder skos:exactMatch SCTID:22149007 semapv:UnspecifiedMatching MONDO:0043291 Rokitansky-Aschoff sinuses of the gallbladder skos:exactMatch UMLS:C0267892 semapv:UnspecifiedMatching MONDO:0043291 Rokitansky-Aschoff sinuses of the gallbladder skos:exactMatch mesh:C535869 semapv:UnspecifiedMatching MONDO:0043294 linear scleroderma skos:exactMatch ICD10CM:L94.1 Linear scleroderma semapv:UnspecifiedMatching MONDO:0043294 linear scleroderma skos:exactMatch MEDGEN:75518 semapv:UnspecifiedMatching MONDO:0043294 linear scleroderma skos:exactMatch NCIT:C116780 Linear Scleroderma semapv:UnspecifiedMatching MONDO:0043294 linear scleroderma skos:exactMatch SCTID:22784002 semapv:UnspecifiedMatching MONDO:0043294 linear scleroderma skos:exactMatch UMLS:C0263409 semapv:UnspecifiedMatching MONDO:0043297 vibrio vulnificus infectious disease skos:exactMatch MEDGEN:220886 semapv:UnspecifiedMatching MONDO:0043297 vibrio vulnificus infectious disease skos:exactMatch SCTID:402965002 semapv:UnspecifiedMatching MONDO:0043297 vibrio vulnificus infectious disease skos:exactMatch UMLS:C1274377 semapv:UnspecifiedMatching MONDO:0043297 vibrio vulnificus infectious disease skos:exactMatch mesh:C536348 semapv:UnspecifiedMatching MONDO:0043300 actinic cheilitis skos:exactMatch MEDGEN:75625 semapv:UnspecifiedMatching MONDO:0043300 actinic cheilitis skos:exactMatch NCIT:C183562 Actinic Cheilitis semapv:UnspecifiedMatching MONDO:0043300 actinic cheilitis skos:exactMatch SCTID:46795000 semapv:UnspecifiedMatching MONDO:0043300 actinic cheilitis skos:exactMatch UMLS:C0267026 semapv:UnspecifiedMatching MONDO:0043300 actinic cheilitis skos:exactMatch icd11.foundation:436658980 Actinic cheilitis semapv:UnspecifiedMatching MONDO:0043300 actinic cheilitis skos:exactMatch mesh:C535669 semapv:UnspecifiedMatching MONDO:0043303 hyperacusis skos:exactMatch ICD10CM:H93.23 Hyperacusis semapv:UnspecifiedMatching MONDO:0043303 hyperacusis skos:exactMatch MEDGEN:20497 semapv:UnspecifiedMatching MONDO:0043303 hyperacusis skos:exactMatch NCIT:C116366 Hyperacusis semapv:UnspecifiedMatching MONDO:0043303 hyperacusis skos:exactMatch SCTID:25289003 semapv:UnspecifiedMatching MONDO:0043303 hyperacusis skos:exactMatch UMLS:C0034880 semapv:UnspecifiedMatching MONDO:0043303 hyperacusis skos:exactMatch icd11.foundation:652034206 Hyperacusis semapv:UnspecifiedMatching MONDO:0043303 hyperacusis skos:exactMatch mesh:D012001 semapv:UnspecifiedMatching MONDO:0043310 amaurosis fugax skos:exactMatch ICD10CM:G45.3 Amaurosis fugax semapv:UnspecifiedMatching MONDO:0043310 amaurosis fugax skos:exactMatch MEDGEN:57702 semapv:UnspecifiedMatching MONDO:0043310 amaurosis fugax skos:exactMatch NCIT:C84550 Amaurosis Fugax semapv:UnspecifiedMatching MONDO:0043310 amaurosis fugax skos:exactMatch SCTID:88032003 semapv:UnspecifiedMatching MONDO:0043310 amaurosis fugax skos:exactMatch UMLS:C0149793 semapv:UnspecifiedMatching MONDO:0043310 amaurosis fugax skos:exactMatch icd11.foundation:691084626 Amaurosis fugax semapv:UnspecifiedMatching MONDO:0043310 amaurosis fugax skos:exactMatch mesh:D020757 semapv:UnspecifiedMatching MONDO:0043314 aquarium granuloma skos:exactMatch MEDGEN:78814 semapv:UnspecifiedMatching MONDO:0043314 aquarium granuloma skos:exactMatch SCTID:240417004 semapv:UnspecifiedMatching MONDO:0043314 aquarium granuloma skos:exactMatch UMLS:C0275708 semapv:UnspecifiedMatching MONDO:0043314 aquarium granuloma skos:exactMatch mesh:C535526 semapv:UnspecifiedMatching MONDO:0043317 amyopathic dermatomyositis skos:exactMatch MEDGEN:96065 semapv:UnspecifiedMatching MONDO:0043317 amyopathic dermatomyositis skos:exactMatch Orphanet:645617 Amyopathic dermatomyositis semapv:UnspecifiedMatching MONDO:0043317 amyopathic dermatomyositis skos:exactMatch SCTID:238935002 semapv:UnspecifiedMatching MONDO:0043317 amyopathic dermatomyositis skos:exactMatch UMLS:C0406645 semapv:UnspecifiedMatching MONDO:0043317 amyopathic dermatomyositis skos:exactMatch icd11.foundation:727262285 Amyopathic dermatomyositis semapv:UnspecifiedMatching MONDO:0043317 amyopathic dermatomyositis skos:exactMatch mesh:C538250 semapv:UnspecifiedMatching MONDO:0043320 piriformis syndrome skos:exactMatch MEDGEN:141601 semapv:UnspecifiedMatching MONDO:0043320 piriformis syndrome skos:exactMatch NCIT:C85012 Piriformis Muscle Syndrome semapv:UnspecifiedMatching MONDO:0043320 piriformis syndrome skos:exactMatch SCTID:129179000 semapv:UnspecifiedMatching MONDO:0043320 piriformis syndrome skos:exactMatch UMLS:C0458224 semapv:UnspecifiedMatching MONDO:0043320 piriformis syndrome skos:exactMatch mesh:D055958 semapv:UnspecifiedMatching MONDO:0043327 cerebrospinal fluid leak skos:exactMatch ICD10CM:G96.0 Cerebrospinal fluid leak semapv:UnspecifiedMatching MONDO:0043327 cerebrospinal fluid leak skos:exactMatch MEDGEN:9695 semapv:UnspecifiedMatching MONDO:0043327 cerebrospinal fluid leak skos:exactMatch SCTID:230744007 semapv:UnspecifiedMatching MONDO:0043327 cerebrospinal fluid leak skos:exactMatch UMLS:C0023182 semapv:UnspecifiedMatching MONDO:0043327 cerebrospinal fluid leak skos:exactMatch mesh:D065634 semapv:UnspecifiedMatching MONDO:0043330 Mirizzi syndrome skos:exactMatch MEDGEN:120605 semapv:UnspecifiedMatching MONDO:0043330 Mirizzi syndrome skos:exactMatch Orphanet:521219 Mirizzi syndrome semapv:UnspecifiedMatching MONDO:0043330 Mirizzi syndrome skos:exactMatch SCTID:4283007 semapv:UnspecifiedMatching MONDO:0043330 Mirizzi syndrome skos:exactMatch UMLS:C0267878 semapv:UnspecifiedMatching MONDO:0043330 Mirizzi syndrome skos:exactMatch icd11.foundation:381742412 Mirizzi syndrome semapv:UnspecifiedMatching MONDO:0043330 Mirizzi syndrome skos:exactMatch mesh:D057792 semapv:UnspecifiedMatching MONDO:0043339 lathyrism skos:exactMatch SCTID:5724005 semapv:UnspecifiedMatching MONDO:0043339 lathyrism skos:exactMatch mesh:D007842 semapv:UnspecifiedMatching MONDO:0043343 Chilaiditi syndrome skos:exactMatch MEDGEN:452355 semapv:UnspecifiedMatching MONDO:0043343 Chilaiditi syndrome skos:exactMatch SCTID:14911005 semapv:UnspecifiedMatching MONDO:0043343 Chilaiditi syndrome skos:exactMatch UMLS:C0267494 semapv:UnspecifiedMatching MONDO:0043343 Chilaiditi syndrome skos:exactMatch mesh:D059269 semapv:UnspecifiedMatching MONDO:0043346 progressive transformation of germinal centers skos:exactMatch MEDGEN:271018 semapv:UnspecifiedMatching MONDO:0043346 progressive transformation of germinal centers skos:exactMatch NCIT:C38408 Progressive Transformation of Germinal Centers semapv:UnspecifiedMatching MONDO:0043346 progressive transformation of germinal centers skos:exactMatch UMLS:C1514481 semapv:UnspecifiedMatching MONDO:0043346 progressive transformation of germinal centers skos:exactMatch mesh:C548085 semapv:UnspecifiedMatching MONDO:0043349 intravascular papillary endothelial hyperplasia skos:exactMatch MEDGEN:91005 semapv:UnspecifiedMatching MONDO:0043349 intravascular papillary endothelial hyperplasia skos:exactMatch NCIT:C4391 Intravascular Papillary Endothelial Hyperplasia semapv:UnspecifiedMatching MONDO:0043349 intravascular papillary endothelial hyperplasia skos:exactMatch Orphanet:673525 Intravascular papillary endothelial hyperplasia semapv:UnspecifiedMatching MONDO:0043349 intravascular papillary endothelial hyperplasia skos:exactMatch SCTID:238770007 semapv:UnspecifiedMatching MONDO:0043349 intravascular papillary endothelial hyperplasia skos:exactMatch UMLS:C0343083 semapv:UnspecifiedMatching MONDO:0043349 intravascular papillary endothelial hyperplasia skos:exactMatch icd11.foundation:1397961760 Intravascular papillary endothelial hyperplasia semapv:UnspecifiedMatching MONDO:0043352 fournier gangrene skos:exactMatch ICD10CM:N49.3 Fournier gangrene semapv:UnspecifiedMatching MONDO:0043352 fournier gangrene skos:exactMatch MEDGEN:65967 semapv:UnspecifiedMatching MONDO:0043352 fournier gangrene skos:exactMatch SCTID:398318005 semapv:UnspecifiedMatching MONDO:0043352 fournier gangrene skos:exactMatch UMLS:C0238419 semapv:UnspecifiedMatching MONDO:0043352 fournier gangrene skos:exactMatch mesh:D018934 semapv:UnspecifiedMatching MONDO:0043355 collagenous gastritis skos:exactMatch MEDGEN:872908 semapv:UnspecifiedMatching MONDO:0043355 collagenous gastritis skos:exactMatch NCIT:C122082 Collagenous Gastritis semapv:UnspecifiedMatching MONDO:0043355 collagenous gastritis skos:exactMatch SCTID:711499009 semapv:UnspecifiedMatching MONDO:0043355 collagenous gastritis skos:exactMatch UMLS:C4040043 semapv:UnspecifiedMatching MONDO:0043358 engraftment syndrome skos:exactMatch MEDGEN:214709 semapv:UnspecifiedMatching MONDO:0043358 engraftment syndrome skos:exactMatch NCIT:C63324 Engraftment Syndrome semapv:UnspecifiedMatching MONDO:0043358 engraftment syndrome skos:exactMatch SCTID:426768001 semapv:UnspecifiedMatching MONDO:0043358 engraftment syndrome skos:exactMatch UMLS:C0919746 semapv:UnspecifiedMatching MONDO:0043361 May-Thurner syndrome skos:exactMatch MEDGEN:473753 semapv:UnspecifiedMatching MONDO:0043361 May-Thurner syndrome skos:exactMatch Orphanet:675404 May-Thurner syndrome semapv:UnspecifiedMatching MONDO:0043361 May-Thurner syndrome skos:exactMatch SCTID:448804008 semapv:UnspecifiedMatching MONDO:0043361 May-Thurner syndrome skos:exactMatch UMLS:C3165062 semapv:UnspecifiedMatching MONDO:0043361 May-Thurner syndrome skos:exactMatch mesh:D062108 semapv:UnspecifiedMatching MONDO:0043364 eosinophil peroxidase deficiency skos:exactMatch MEDGEN:342386 semapv:UnspecifiedMatching MONDO:0043364 eosinophil peroxidase deficiency skos:exactMatch OMIM:261500 eosinophil peroxidase deficiency semapv:UnspecifiedMatching MONDO:0043364 eosinophil peroxidase deficiency skos:exactMatch SCTID:711160007 semapv:UnspecifiedMatching MONDO:0043364 eosinophil peroxidase deficiency skos:exactMatch UMLS:C1850000 semapv:UnspecifiedMatching MONDO:0043364 eosinophil peroxidase deficiency skos:exactMatch mesh:C564893 semapv:UnspecifiedMatching MONDO:0043370 secondary adrenal insufficiency skos:exactMatch MEDGEN:184925 semapv:UnspecifiedMatching MONDO:0043370 secondary adrenal insufficiency skos:exactMatch NCIT:C62602 Secondary Adrenal Insufficiency semapv:UnspecifiedMatching MONDO:0043370 secondary adrenal insufficiency skos:exactMatch SCTID:16685009 semapv:UnspecifiedMatching MONDO:0043370 secondary adrenal insufficiency skos:exactMatch UMLS:C0948387 semapv:UnspecifiedMatching MONDO:0043373 sudden sensorineural hearing loss skos:exactMatch MEDGEN:907022 semapv:UnspecifiedMatching MONDO:0043373 sudden sensorineural hearing loss skos:exactMatch Orphanet:90059 Sudden sensorineural hearing loss semapv:UnspecifiedMatching MONDO:0043373 sudden sensorineural hearing loss skos:exactMatch SCTID:715239002 semapv:UnspecifiedMatching MONDO:0043373 sudden sensorineural hearing loss skos:exactMatch UMLS:C4275242 semapv:UnspecifiedMatching MONDO:0043373 sudden sensorineural hearing loss skos:exactMatch mesh:D003639 semapv:UnspecifiedMatching MONDO:0043377 juvenile spondyloarthropathy skos:exactMatch MEDGEN:592564 semapv:UnspecifiedMatching MONDO:0043377 juvenile spondyloarthropathy skos:exactMatch NCIT:C114347 Juvenile Spondyloarthritis semapv:UnspecifiedMatching MONDO:0043377 juvenile spondyloarthropathy skos:exactMatch SCTID:239806000 semapv:UnspecifiedMatching MONDO:0043377 juvenile spondyloarthropathy skos:exactMatch UMLS:C0409676 semapv:UnspecifiedMatching MONDO:0043424 digestive system infectious disorder skos:exactMatch NCIT:C35503 Digestive System Infection semapv:UnspecifiedMatching MONDO:0043424 digestive system infectious disorder skos:exactMatch SCTID:715852004 semapv:UnspecifiedMatching MONDO:0043452 chromosome 8, trisomy skos:exactMatch MEDGEN:98158 semapv:UnspecifiedMatching MONDO:0043452 chromosome 8, trisomy skos:exactMatch SCTID:205649008 semapv:UnspecifiedMatching MONDO:0043452 chromosome 8, trisomy skos:exactMatch UMLS:C0432412 semapv:UnspecifiedMatching MONDO:0043452 chromosome 8, trisomy skos:exactMatch mesh:C537942 semapv:UnspecifiedMatching MONDO:0043455 humoral hypercalcemia of malignancy skos:exactMatch MEDGEN:56210 semapv:UnspecifiedMatching MONDO:0043455 humoral hypercalcemia of malignancy skos:exactMatch NCIT:C3496 Hypercalcemia of Malignancy semapv:UnspecifiedMatching MONDO:0043455 humoral hypercalcemia of malignancy skos:exactMatch SCTID:47709007 semapv:UnspecifiedMatching MONDO:0043455 humoral hypercalcemia of malignancy skos:exactMatch UMLS:C0149911 semapv:UnspecifiedMatching MONDO:0043455 humoral hypercalcemia of malignancy skos:exactMatch mesh:C562390 semapv:UnspecifiedMatching MONDO:0043458 radiation injury skos:exactMatch mesh:D011832 semapv:UnspecifiedMatching MONDO:0043459 radiation-induced disorder skos:exactMatch EFO:0009565 semapv:UnspecifiedMatching MONDO:0043459 radiation-induced disorder skos:exactMatch MEDGEN:734320 semapv:UnspecifiedMatching MONDO:0043459 radiation-induced disorder skos:exactMatch NCIT:C26684 Radiation-Induced Disorder semapv:UnspecifiedMatching MONDO:0043459 radiation-induced disorder skos:exactMatch Orphanet:521132 Radiation-induced disorder semapv:UnspecifiedMatching MONDO:0043459 radiation-induced disorder skos:exactMatch SCTID:85983004 semapv:UnspecifiedMatching MONDO:0043459 radiation-induced disorder skos:exactMatch UMLS:C1527225 semapv:UnspecifiedMatching MONDO:0043459 radiation-induced disorder skos:exactMatch mesh:D000016 semapv:UnspecifiedMatching MONDO:0043465 achlorhydria skos:exactMatch ICD10CM:K31.83 Achlorhydria semapv:UnspecifiedMatching MONDO:0043465 achlorhydria skos:exactMatch MEDGEN:1714 semapv:UnspecifiedMatching MONDO:0043465 achlorhydria skos:exactMatch NCIT:C2850 Achlorhydria semapv:UnspecifiedMatching MONDO:0043465 achlorhydria skos:exactMatch SCTID:47481007 semapv:UnspecifiedMatching MONDO:0043465 achlorhydria skos:exactMatch UMLS:C0001075 semapv:UnspecifiedMatching MONDO:0043465 achlorhydria skos:exactMatch icd11.foundation:157689543 Achlorhydria semapv:UnspecifiedMatching MONDO:0043465 achlorhydria skos:exactMatch mesh:D000126 semapv:UnspecifiedMatching MONDO:0043468 acne keloid skos:exactMatch ICD10CM:L73.0 Acne keloid semapv:UnspecifiedMatching MONDO:0043468 acne keloid skos:exactMatch MEDGEN:1720 semapv:UnspecifiedMatching MONDO:0043468 acne keloid skos:exactMatch NCIT:C34346 Acne Keloid semapv:UnspecifiedMatching MONDO:0043468 acne keloid skos:exactMatch SCTID:238746008 semapv:UnspecifiedMatching MONDO:0043468 acne keloid skos:exactMatch UMLS:C0001145 semapv:UnspecifiedMatching MONDO:0043468 acne keloid skos:exactMatch mesh:D000153 semapv:UnspecifiedMatching MONDO:0043472 ectopic ACTH secretion syndrome skos:exactMatch ICD10CM:E24.3 Ectopic ACTH syndrome semapv:UnspecifiedMatching MONDO:0043472 ectopic ACTH secretion syndrome skos:exactMatch MEDGEN:103 semapv:UnspecifiedMatching MONDO:0043472 ectopic ACTH secretion syndrome skos:exactMatch NCIT:C4387 Ectopic ACTH Secretion Syndrome semapv:UnspecifiedMatching MONDO:0043472 ectopic ACTH secretion syndrome skos:exactMatch SCTID:626004 semapv:UnspecifiedMatching MONDO:0043472 ectopic ACTH secretion syndrome skos:exactMatch UMLS:C0001231 semapv:UnspecifiedMatching MONDO:0043472 ectopic ACTH secretion syndrome skos:exactMatch mesh:D000182 semapv:UnspecifiedMatching MONDO:0043475 Adams-Stokes syndrome skos:exactMatch MEDGEN:1741 semapv:UnspecifiedMatching MONDO:0043475 Adams-Stokes syndrome skos:exactMatch NCIT:C79765 Stokes-Adams Syndrome semapv:UnspecifiedMatching MONDO:0043475 Adams-Stokes syndrome skos:exactMatch SCTID:46935006 semapv:UnspecifiedMatching MONDO:0043475 Adams-Stokes syndrome skos:exactMatch UMLS:C0001396 semapv:UnspecifiedMatching MONDO:0043475 Adams-Stokes syndrome skos:exactMatch mesh:D000219 semapv:UnspecifiedMatching MONDO:0043479 adenoviridae infectious disease skos:exactMatch MEDGEN:1754 semapv:UnspecifiedMatching MONDO:0043479 adenoviridae infectious disease skos:exactMatch NCIT:C115149 Adenovirus Infection semapv:UnspecifiedMatching MONDO:0043479 adenoviridae infectious disease skos:exactMatch SCTID:25225006 semapv:UnspecifiedMatching MONDO:0043479 adenoviridae infectious disease skos:exactMatch UMLS:C0001486 semapv:UnspecifiedMatching MONDO:0043479 adenoviridae infectious disease skos:exactMatch mesh:D000257 semapv:UnspecifiedMatching MONDO:0043494 arteritis skos:exactMatch EFO:0009011 semapv:UnspecifiedMatching MONDO:0043494 arteritis skos:exactMatch MEDGEN:13916 semapv:UnspecifiedMatching MONDO:0043494 arteritis skos:exactMatch NCIT:C34399 Arteritis semapv:UnspecifiedMatching MONDO:0043494 arteritis skos:exactMatch SCTID:52089001 semapv:UnspecifiedMatching MONDO:0043494 arteritis skos:exactMatch UMLS:C0003860 semapv:UnspecifiedMatching MONDO:0043494 arteritis skos:exactMatch mesh:D001167 semapv:UnspecifiedMatching MONDO:0043510 brain injury skos:exactMatch mesh:D001930 semapv:UnspecifiedMatching MONDO:0043512 traumatic encephalopathy skos:exactMatch MEDGEN:536661 semapv:UnspecifiedMatching MONDO:0043512 traumatic encephalopathy skos:exactMatch NCIT:C35542 Traumatic Encephalopathy semapv:UnspecifiedMatching MONDO:0043512 traumatic encephalopathy skos:exactMatch SCTID:230282000 semapv:UnspecifiedMatching MONDO:0043512 traumatic encephalopathy skos:exactMatch UMLS:C0236959 semapv:UnspecifiedMatching MONDO:0043512 traumatic encephalopathy skos:exactMatch icd11.foundation:1673722101 Traumatic encephalopathy semapv:UnspecifiedMatching MONDO:0043519 burn skos:exactMatch ICD10CM:T20-T25 Burns and corrosions of external body surface, specified by site (T20-T25) semapv:UnspecifiedMatching MONDO:0043519 burn skos:exactMatch NCIT:C34441 Burn semapv:UnspecifiedMatching MONDO:0043519 burn skos:exactMatch SCTID:125666000 semapv:UnspecifiedMatching MONDO:0043519 burn skos:exactMatch mesh:D002056 semapv:UnspecifiedMatching MONDO:0043523 cadmium poisoning skos:exactMatch SCTID:3398004 semapv:UnspecifiedMatching MONDO:0043523 cadmium poisoning skos:exactMatch mesh:D002105 semapv:UnspecifiedMatching MONDO:0043529 carcinoid heart disease skos:exactMatch MEDGEN:762 semapv:UnspecifiedMatching MONDO:0043529 carcinoid heart disease skos:exactMatch SCTID:36222008 semapv:UnspecifiedMatching MONDO:0043529 carcinoid heart disease skos:exactMatch UMLS:C0007093 semapv:UnspecifiedMatching MONDO:0043529 carcinoid heart disease skos:exactMatch mesh:D002275 semapv:UnspecifiedMatching MONDO:0043537 cluster headache syndrome skos:exactMatch MEDGEN:3503 semapv:UnspecifiedMatching MONDO:0043537 cluster headache syndrome skos:exactMatch NCIT:C117077 Cluster Headache semapv:UnspecifiedMatching MONDO:0043537 cluster headache syndrome skos:exactMatch SCTID:193031009 semapv:UnspecifiedMatching MONDO:0043537 cluster headache syndrome skos:exactMatch UMLS:C0009088 semapv:UnspecifiedMatching MONDO:0043537 cluster headache syndrome skos:exactMatch icd11.foundation:760621151 Cluster headache semapv:UnspecifiedMatching MONDO:0043537 cluster headache syndrome skos:exactMatch mesh:D003027 semapv:UnspecifiedMatching MONDO:0043541 viral conjunctivitis skos:exactMatch EFO:0008571 semapv:UnspecifiedMatching MONDO:0043541 viral conjunctivitis skos:exactMatch ICD10CM:B30 Viral conjunctivitis semapv:UnspecifiedMatching MONDO:0043541 viral conjunctivitis skos:exactMatch ICD10WHO:B30 Viral conjunctivitis semapv:UnspecifiedMatching MONDO:0043541 viral conjunctivitis skos:exactMatch MEDGEN:3212 semapv:UnspecifiedMatching MONDO:0043541 viral conjunctivitis skos:exactMatch NCIT:C34509 Viral Conjunctivitis semapv:UnspecifiedMatching MONDO:0043541 viral conjunctivitis skos:exactMatch SCTID:45261009 semapv:UnspecifiedMatching MONDO:0043541 viral conjunctivitis skos:exactMatch UMLS:C0009774 semapv:UnspecifiedMatching MONDO:0043541 viral conjunctivitis skos:exactMatch icd11.foundation:157616931 Viral conjunctivitis semapv:UnspecifiedMatching MONDO:0043541 viral conjunctivitis skos:exactMatch mesh:D003236 semapv:UnspecifiedMatching MONDO:0043543 iatrogenic disease skos:exactMatch ICD10CM:T80-T88 Complications of surgical and medical care, not elsewhere classified (T80-T88) semapv:UnspecifiedMatching MONDO:0043543 iatrogenic disease skos:exactMatch MEDGEN:9393 semapv:UnspecifiedMatching MONDO:0043543 iatrogenic disease skos:exactMatch SCTID:12456005 semapv:UnspecifiedMatching MONDO:0043543 iatrogenic disease skos:exactMatch UMLS:C0020732 semapv:UnspecifiedMatching MONDO:0043543 iatrogenic disease skos:exactMatch mesh:D007049 semapv:UnspecifiedMatching MONDO:0043544 nosocomial infection skos:exactMatch MEDGEN:61441 semapv:UnspecifiedMatching MONDO:0043544 nosocomial infection skos:exactMatch NCIT:C115164 Nosocomial Infection semapv:UnspecifiedMatching MONDO:0043544 nosocomial infection skos:exactMatch SCTID:19168005 semapv:UnspecifiedMatching MONDO:0043544 nosocomial infection skos:exactMatch UMLS:C0205721 semapv:UnspecifiedMatching MONDO:0043544 nosocomial infection skos:exactMatch mesh:D003428 semapv:UnspecifiedMatching MONDO:0043549 crush syndrome skos:exactMatch MEDGEN:3671 semapv:UnspecifiedMatching MONDO:0043549 crush syndrome skos:exactMatch SCTID:23697004 semapv:UnspecifiedMatching MONDO:0043549 crush syndrome skos:exactMatch UMLS:C0010392 semapv:UnspecifiedMatching MONDO:0043549 crush syndrome skos:exactMatch mesh:D003444 semapv:UnspecifiedMatching MONDO:0043555 infantile diarrhea skos:exactMatch MEDGEN:8361 semapv:UnspecifiedMatching MONDO:0043555 infantile diarrhea skos:exactMatch SCTID:39963006 semapv:UnspecifiedMatching MONDO:0043555 infantile diarrhea skos:exactMatch UMLS:C0011992 semapv:UnspecifiedMatching MONDO:0043555 infantile diarrhea skos:exactMatch mesh:D003968 semapv:UnspecifiedMatching MONDO:0043576 endarteritis skos:exactMatch MEDGEN:41777 semapv:UnspecifiedMatching MONDO:0043576 endarteritis skos:exactMatch NCIT:C34581 Endarteritis semapv:UnspecifiedMatching MONDO:0043576 endarteritis skos:exactMatch SCTID:33806008 semapv:UnspecifiedMatching MONDO:0043576 endarteritis skos:exactMatch UMLS:C0014100 semapv:UnspecifiedMatching MONDO:0043576 endarteritis skos:exactMatch mesh:D004692 semapv:UnspecifiedMatching MONDO:0043579 enteritis skos:exactMatch MEDGEN:4964 semapv:UnspecifiedMatching MONDO:0043579 enteritis skos:exactMatch NCIT:C26765 Enteritis semapv:UnspecifiedMatching MONDO:0043579 enteritis skos:exactMatch SCTID:64613007 semapv:UnspecifiedMatching MONDO:0043579 enteritis skos:exactMatch UMLS:C0014335 semapv:UnspecifiedMatching MONDO:0043579 enteritis skos:exactMatch mesh:D004751 semapv:UnspecifiedMatching MONDO:0043589 femoral neck fracture skos:exactMatch SCTID:5913000 semapv:UnspecifiedMatching MONDO:0043589 femoral neck fracture skos:exactMatch mesh:D005265 semapv:UnspecifiedMatching MONDO:0043606 obsolete pathologic fracture skos:exactMatch NCIT:C3047 Pathologic Fracture semapv:UnspecifiedMatching MONDO:0043606 obsolete pathologic fracture skos:exactMatch SCTID:268029009 semapv:UnspecifiedMatching MONDO:0043606 obsolete pathologic fracture skos:exactMatch mesh:D005598 semapv:UnspecifiedMatching MONDO:0043653 herpes labialis skos:exactMatch MEDGEN:5533 semapv:UnspecifiedMatching MONDO:0043653 herpes labialis skos:exactMatch NCIT:C34695 Cold Sore semapv:UnspecifiedMatching MONDO:0043653 herpes labialis skos:exactMatch SCTID:1475003 semapv:UnspecifiedMatching MONDO:0043653 herpes labialis skos:exactMatch UMLS:C0019345 semapv:UnspecifiedMatching MONDO:0043653 herpes labialis skos:exactMatch mesh:D006560 semapv:UnspecifiedMatching MONDO:0043678 chromosome inversion disorder skos:exactMatch MEDGEN:7145 semapv:UnspecifiedMatching MONDO:0043678 chromosome inversion disorder skos:exactMatch UMLS:C0021943 semapv:UnspecifiedMatching MONDO:0043678 chromosome inversion disorder skos:exactMatch mesh:D007446 semapv:UnspecifiedMatching MONDO:0043683 Leriche syndrome skos:exactMatch MEDGEN:44114 semapv:UnspecifiedMatching MONDO:0043683 Leriche syndrome skos:exactMatch NCIT:C34773 Leriche Syndrome semapv:UnspecifiedMatching MONDO:0043683 Leriche syndrome skos:exactMatch SCTID:307816004 semapv:UnspecifiedMatching MONDO:0043683 Leriche syndrome skos:exactMatch UMLS:C0023370 semapv:UnspecifiedMatching MONDO:0043683 Leriche syndrome skos:exactMatch mesh:D007925 semapv:UnspecifiedMatching MONDO:0043693 alcoholic liver disease skos:exactMatch DOID:0070658 alcohol-associated liver disease semapv:UnspecifiedMatching MONDO:0043693 alcoholic liver disease skos:exactMatch EFO:0008573 semapv:UnspecifiedMatching MONDO:0043693 alcoholic liver disease skos:exactMatch ICD10CM:K70 Alcoholic liver disease semapv:UnspecifiedMatching MONDO:0043693 alcoholic liver disease skos:exactMatch MEDGEN:9793 semapv:UnspecifiedMatching MONDO:0043693 alcoholic liver disease skos:exactMatch NCIT:C34783 Alcoholic Liver Disease semapv:UnspecifiedMatching MONDO:0043693 alcoholic liver disease skos:exactMatch SCTID:41309000 semapv:UnspecifiedMatching MONDO:0043693 alcoholic liver disease skos:exactMatch UMLS:C0023896 semapv:UnspecifiedMatching MONDO:0043693 alcoholic liver disease skos:exactMatch icd11.foundation:469481605 Alcoholic liver disease semapv:UnspecifiedMatching MONDO:0043693 alcoholic liver disease skos:exactMatch mesh:D008108 semapv:UnspecifiedMatching MONDO:0043707 obsolete mediastinal disorder skos:exactMatch NCIT:C26826 Mediastinal Disorder semapv:UnspecifiedMatching MONDO:0043707 obsolete mediastinal disorder skos:exactMatch SCTID:49483002 semapv:UnspecifiedMatching MONDO:0043707 obsolete mediastinal disorder skos:exactMatch mesh:D008477 semapv:UnspecifiedMatching MONDO:0043723 Monteggia's fracture skos:exactMatch SCTID:123973009 semapv:UnspecifiedMatching MONDO:0043723 Monteggia's fracture skos:exactMatch mesh:D009011 semapv:UnspecifiedMatching MONDO:0043726 multiple organ dysfunction syndrome skos:exactMatch MEDGEN:6462 semapv:UnspecifiedMatching MONDO:0043726 multiple organ dysfunction syndrome skos:exactMatch NCIT:C179648 Multiple Organ Dysfunction Syndrome semapv:UnspecifiedMatching MONDO:0043726 multiple organ dysfunction syndrome skos:exactMatch SCTID:57653000 semapv:UnspecifiedMatching MONDO:0043726 multiple organ dysfunction syndrome skos:exactMatch UMLS:C0026766 semapv:UnspecifiedMatching MONDO:0043726 multiple organ dysfunction syndrome skos:exactMatch mesh:D009102 semapv:UnspecifiedMatching MONDO:0043731 lytic metastatic bone lesion skos:exactMatch MEDGEN:137065 semapv:UnspecifiedMatching MONDO:0043731 lytic metastatic bone lesion skos:exactMatch NCIT:C35371 Osteolytic Metastatic Bone Lesion semapv:UnspecifiedMatching MONDO:0043731 lytic metastatic bone lesion skos:exactMatch SCTID:203522001 semapv:UnspecifiedMatching MONDO:0043731 lytic metastatic bone lesion skos:exactMatch UMLS:C0302313 semapv:UnspecifiedMatching MONDO:0043731 lytic metastatic bone lesion skos:exactMatch mesh:D010014 semapv:UnspecifiedMatching MONDO:0043735 osteoradionecrosis skos:exactMatch MEDGEN:10500 semapv:UnspecifiedMatching MONDO:0043735 osteoradionecrosis skos:exactMatch NCIT:C63707 Osteoradionecrosis semapv:UnspecifiedMatching MONDO:0043735 osteoradionecrosis skos:exactMatch SCTID:109333005 semapv:UnspecifiedMatching MONDO:0043735 osteoradionecrosis skos:exactMatch UMLS:C0029461 semapv:UnspecifiedMatching MONDO:0043735 osteoradionecrosis skos:exactMatch mesh:D010025 semapv:UnspecifiedMatching MONDO:0043759 abdominal ectopic pregnancy skos:exactMatch MEDGEN:46072 semapv:UnspecifiedMatching MONDO:0043759 abdominal ectopic pregnancy skos:exactMatch NCIT:C92921 Abdominal Pregnancy semapv:UnspecifiedMatching MONDO:0043759 abdominal ectopic pregnancy skos:exactMatch SCTID:82661006 semapv:UnspecifiedMatching MONDO:0043759 abdominal ectopic pregnancy skos:exactMatch UMLS:C0032984 semapv:UnspecifiedMatching MONDO:0043759 abdominal ectopic pregnancy skos:exactMatch mesh:D011269 semapv:UnspecifiedMatching MONDO:0043762 tubal pregnancy skos:exactMatch MEDGEN:10901 semapv:UnspecifiedMatching MONDO:0043762 tubal pregnancy skos:exactMatch NCIT:C92946 Tubal Pregnancy semapv:UnspecifiedMatching MONDO:0043762 tubal pregnancy skos:exactMatch SCTID:79586000 semapv:UnspecifiedMatching MONDO:0043762 tubal pregnancy skos:exactMatch UMLS:C0032994 semapv:UnspecifiedMatching MONDO:0043762 tubal pregnancy skos:exactMatch icd11.foundation:913821868 Tubal pregnancy semapv:UnspecifiedMatching MONDO:0043762 tubal pregnancy skos:exactMatch mesh:D011274 semapv:UnspecifiedMatching MONDO:0043765 presbycusis skos:exactMatch ICD10CM:H91.1 Presbycusis semapv:UnspecifiedMatching MONDO:0043765 presbycusis skos:exactMatch MEDGEN:10911 semapv:UnspecifiedMatching MONDO:0043765 presbycusis skos:exactMatch NCIT:C116367 Presbycusis semapv:UnspecifiedMatching MONDO:0043765 presbycusis skos:exactMatch SCTID:49526009 semapv:UnspecifiedMatching MONDO:0043765 presbycusis skos:exactMatch UMLS:C0033074 semapv:UnspecifiedMatching MONDO:0043765 presbycusis skos:exactMatch icd11.foundation:1569854675 Presbycusis semapv:UnspecifiedMatching MONDO:0043765 presbycusis skos:exactMatch mesh:D011304 semapv:UnspecifiedMatching MONDO:0043768 thrombocytopenic purpura skos:exactMatch MEDGEN:208992 semapv:UnspecifiedMatching MONDO:0043768 thrombocytopenic purpura skos:exactMatch NCIT:C26870 Thrombocytopenic Purpura semapv:UnspecifiedMatching MONDO:0043768 thrombocytopenic purpura skos:exactMatch SCTID:302873008 semapv:UnspecifiedMatching MONDO:0043768 thrombocytopenic purpura skos:exactMatch UMLS:C0857305 semapv:UnspecifiedMatching MONDO:0043768 thrombocytopenic purpura skos:exactMatch mesh:D011696 semapv:UnspecifiedMatching MONDO:0043771 radiodermatitis skos:exactMatch ICD10CM:L58 Radiodermatitis semapv:UnspecifiedMatching MONDO:0043771 radiodermatitis skos:exactMatch ICD10WHO:L58 Radiodermatitis semapv:UnspecifiedMatching MONDO:0043771 radiodermatitis skos:exactMatch NCIT:C3349 Radiation-Induced Dermatitis semapv:UnspecifiedMatching MONDO:0043771 radiodermatitis skos:exactMatch SCTID:49084001 semapv:UnspecifiedMatching MONDO:0043771 radiodermatitis skos:exactMatch mesh:D011855 semapv:UnspecifiedMatching MONDO:0043775 respiratory paralysis skos:exactMatch MEDGEN:19748 semapv:UnspecifiedMatching MONDO:0043775 respiratory paralysis skos:exactMatch SCTID:64228003 semapv:UnspecifiedMatching MONDO:0043775 respiratory paralysis skos:exactMatch UMLS:C0035232 semapv:UnspecifiedMatching MONDO:0043775 respiratory paralysis skos:exactMatch mesh:D012133 semapv:UnspecifiedMatching MONDO:0043777 rhinophyma skos:exactMatch ICD10CM:L71.1 Rhinophyma semapv:UnspecifiedMatching MONDO:0043777 rhinophyma skos:exactMatch MEDGEN:48451 semapv:UnspecifiedMatching MONDO:0043777 rhinophyma skos:exactMatch NCIT:C34989 Rhinophyma semapv:UnspecifiedMatching MONDO:0043777 rhinophyma skos:exactMatch SCTID:19877001 semapv:UnspecifiedMatching MONDO:0043777 rhinophyma skos:exactMatch UMLS:C0035466 semapv:UnspecifiedMatching MONDO:0043777 rhinophyma skos:exactMatch icd11.foundation:158901546 Rhinophyma semapv:UnspecifiedMatching MONDO:0043777 rhinophyma skos:exactMatch mesh:D012224 semapv:UnspecifiedMatching MONDO:0043783 sclerema neonatorum skos:exactMatch MEDGEN:20677 semapv:UnspecifiedMatching MONDO:0043783 sclerema neonatorum skos:exactMatch NCIT:C35009 Sclerema Neonatorum semapv:UnspecifiedMatching MONDO:0043783 sclerema neonatorum skos:exactMatch SCTID:206539008 semapv:UnspecifiedMatching MONDO:0043783 sclerema neonatorum skos:exactMatch UMLS:C0036415 semapv:UnspecifiedMatching MONDO:0043783 sclerema neonatorum skos:exactMatch icd11.foundation:1470028414 Sclerema neonatorum semapv:UnspecifiedMatching MONDO:0043783 sclerema neonatorum skos:exactMatch mesh:D012593 semapv:UnspecifiedMatching MONDO:0043786 serositis skos:exactMatch MEDGEN:20711 semapv:UnspecifiedMatching MONDO:0043786 serositis skos:exactMatch NCIT:C70428 Serositis semapv:UnspecifiedMatching MONDO:0043786 serositis skos:exactMatch SCTID:370469003 semapv:UnspecifiedMatching MONDO:0043786 serositis skos:exactMatch UMLS:C0036749 semapv:UnspecifiedMatching MONDO:0043786 serositis skos:exactMatch mesh:D012700 semapv:UnspecifiedMatching MONDO:0043789 serum sickness skos:exactMatch MEDGEN:11390 semapv:UnspecifiedMatching MONDO:0043789 serum sickness skos:exactMatch NCIT:C79718 Serum Sickness semapv:UnspecifiedMatching MONDO:0043789 serum sickness skos:exactMatch SCTID:72284000 semapv:UnspecifiedMatching MONDO:0043789 serum sickness skos:exactMatch UMLS:C0036830 semapv:UnspecifiedMatching MONDO:0043789 serum sickness skos:exactMatch icd11.foundation:715261250 Serum sickness semapv:UnspecifiedMatching MONDO:0043789 serum sickness skos:exactMatch mesh:D012713 semapv:UnspecifiedMatching MONDO:0043797 spinal cord injury skos:exactMatch Orphanet:90058 Spinal cord injury semapv:UnspecifiedMatching MONDO:0043797 spinal cord injury skos:exactMatch SCTID:90584004 semapv:UnspecifiedMatching MONDO:0043797 spinal cord injury skos:exactMatch mesh:D013119 semapv:UnspecifiedMatching MONDO:0043836 tuberculosis, spinal skos:exactMatch MEDGEN:11948 semapv:UnspecifiedMatching MONDO:0043836 tuberculosis, spinal skos:exactMatch NCIT:C35087 Pott Disease semapv:UnspecifiedMatching MONDO:0043836 tuberculosis, spinal skos:exactMatch SCTID:35984006 semapv:UnspecifiedMatching MONDO:0043836 tuberculosis, spinal skos:exactMatch UMLS:C0041330 semapv:UnspecifiedMatching MONDO:0043836 tuberculosis, spinal skos:exactMatch mesh:D014399 semapv:UnspecifiedMatching MONDO:0043839 ulcer disease skos:exactMatch MEDGEN:22541 semapv:UnspecifiedMatching MONDO:0043839 ulcer disease skos:exactMatch NCIT:C3426 Ulcer semapv:UnspecifiedMatching MONDO:0043839 ulcer disease skos:exactMatch SCTID:429040005 semapv:UnspecifiedMatching MONDO:0043839 ulcer disease skos:exactMatch UMLS:C0041582 semapv:UnspecifiedMatching MONDO:0043839 ulcer disease skos:exactMatch mesh:D014456 semapv:UnspecifiedMatching MONDO:0043862 voice disorders skos:exactMatch EFO:0009692 semapv:UnspecifiedMatching MONDO:0043862 voice disorders skos:exactMatch MEDGEN:12120 semapv:UnspecifiedMatching MONDO:0043862 voice disorders skos:exactMatch NCIT:C3441 Voice Disorder semapv:UnspecifiedMatching MONDO:0043862 voice disorders skos:exactMatch SCTID:71941009 semapv:UnspecifiedMatching MONDO:0043862 voice disorders skos:exactMatch UMLS:C0042940 semapv:UnspecifiedMatching MONDO:0043862 voice disorders skos:exactMatch mesh:D014832 semapv:UnspecifiedMatching MONDO:0043875 tumor lysis syndrome skos:exactMatch ICD10CM:E88.3 Tumor lysis syndrome semapv:UnspecifiedMatching MONDO:0043875 tumor lysis syndrome skos:exactMatch MEDGEN:52890 semapv:UnspecifiedMatching MONDO:0043875 tumor lysis syndrome skos:exactMatch NCIT:C3425 Tumor Lysis Syndrome semapv:UnspecifiedMatching MONDO:0043875 tumor lysis syndrome skos:exactMatch SCTID:277605001 semapv:UnspecifiedMatching MONDO:0043875 tumor lysis syndrome skos:exactMatch UMLS:C0041364 semapv:UnspecifiedMatching MONDO:0043875 tumor lysis syndrome skos:exactMatch mesh:D015275 semapv:UnspecifiedMatching MONDO:0043878 hereditary optic atrophy skos:exactMatch ICD10CM:H47.22 Hereditary optic atrophy semapv:UnspecifiedMatching MONDO:0043878 hereditary optic atrophy skos:exactMatch MEDGEN:45207 semapv:UnspecifiedMatching MONDO:0043878 hereditary optic atrophy skos:exactMatch NCIT:C34864 Hereditary Optic Atrophy semapv:UnspecifiedMatching MONDO:0043878 hereditary optic atrophy skos:exactMatch OMIMPS:165500 Optic atrophy semapv:UnspecifiedMatching MONDO:0043878 hereditary optic atrophy skos:exactMatch SCTID:26360005 semapv:UnspecifiedMatching MONDO:0043878 hereditary optic atrophy skos:exactMatch UMLS:C0029125 semapv:UnspecifiedMatching MONDO:0043878 hereditary optic atrophy skos:exactMatch mesh:D015418 semapv:UnspecifiedMatching MONDO:0043881 obsolete acute eosinophilic leukemia skos:exactMatch NCIT:C26813 Acute Eosinophilic Leukemia semapv:UnspecifiedMatching MONDO:0043881 obsolete acute eosinophilic leukemia skos:exactMatch SCTID:277604002 semapv:UnspecifiedMatching MONDO:0043881 obsolete acute eosinophilic leukemia skos:exactMatch mesh:D015472 semapv:UnspecifiedMatching MONDO:0043885 eye infectious disorder skos:exactMatch MEDGEN:41934 semapv:UnspecifiedMatching MONDO:0043885 eye infectious disorder skos:exactMatch NCIT:C45372 Eye Infection semapv:UnspecifiedMatching MONDO:0043885 eye infectious disorder skos:exactMatch SCTID:128351009 semapv:UnspecifiedMatching MONDO:0043885 eye infectious disorder skos:exactMatch UMLS:C0015403 semapv:UnspecifiedMatching MONDO:0043885 eye infectious disorder skos:exactMatch mesh:D015817 semapv:UnspecifiedMatching MONDO:0043892 prosthesis-related infectious disease skos:exactMatch NCIT:C79705 Prosthesis-Related Infection semapv:UnspecifiedMatching MONDO:0043892 prosthesis-related infectious disease skos:exactMatch mesh:D016459 semapv:UnspecifiedMatching MONDO:0043895 ankle injury skos:exactMatch SCTID:125603006 semapv:UnspecifiedMatching MONDO:0043895 ankle injury skos:exactMatch mesh:D016512 semapv:UnspecifiedMatching MONDO:0043904 leishmaniasis, diffuse cutaneous skos:exactMatch MEDGEN:39020 semapv:UnspecifiedMatching MONDO:0043904 leishmaniasis, diffuse cutaneous skos:exactMatch SCTID:38573008 semapv:UnspecifiedMatching MONDO:0043904 leishmaniasis, diffuse cutaneous skos:exactMatch UMLS:C0085311 semapv:UnspecifiedMatching MONDO:0043904 leishmaniasis, diffuse cutaneous skos:exactMatch mesh:D016774 semapv:UnspecifiedMatching MONDO:0043905 pneumonitis skos:exactMatch EFO:1001991 semapv:UnspecifiedMatching MONDO:0043905 pneumonitis skos:exactMatch MEDGEN:811420 semapv:UnspecifiedMatching MONDO:0043905 pneumonitis skos:exactMatch NCIT:C113159 Pneumonitis semapv:UnspecifiedMatching MONDO:0043905 pneumonitis skos:exactMatch SCTID:205237003 semapv:UnspecifiedMatching MONDO:0043905 pneumonitis skos:exactMatch UMLS:C3714636 semapv:UnspecifiedMatching MONDO:0043905 pneumonitis skos:exactMatch icd11.foundation:1324545867 Pneumonitis semapv:UnspecifiedMatching MONDO:0043919 radiation pneumonitis skos:exactMatch SCTID:84004001 semapv:UnspecifiedMatching MONDO:0043919 radiation pneumonitis skos:exactMatch icd11.foundation:1914397767 Radiation pneumonitis semapv:UnspecifiedMatching MONDO:0043919 radiation pneumonitis skos:exactMatch mesh:D017564 semapv:UnspecifiedMatching MONDO:0043923 lichen planus, oral skos:exactMatch MEDGEN:60084 semapv:UnspecifiedMatching MONDO:0043923 lichen planus, oral skos:exactMatch NCIT:C7406 Oral Lichen Planus semapv:UnspecifiedMatching MONDO:0043923 lichen planus, oral skos:exactMatch SCTID:235049008 semapv:UnspecifiedMatching MONDO:0043923 lichen planus, oral skos:exactMatch UMLS:C0206139 semapv:UnspecifiedMatching MONDO:0043923 lichen planus, oral skos:exactMatch mesh:D017676 semapv:UnspecifiedMatching MONDO:0043953 burkholderia infectious disease skos:exactMatch SCTID:721736003 semapv:UnspecifiedMatching MONDO:0043953 burkholderia infectious disease skos:exactMatch mesh:D019121 semapv:UnspecifiedMatching MONDO:0043959 pseudolymphoma skos:exactMatch EFO:1001831 semapv:UnspecifiedMatching MONDO:0043959 pseudolymphoma skos:exactMatch MEDGEN:67450 semapv:UnspecifiedMatching MONDO:0043959 pseudolymphoma skos:exactMatch NCIT:C3825 Pseudolymphoma semapv:UnspecifiedMatching MONDO:0043959 pseudolymphoma skos:exactMatch SCTID:19750001 semapv:UnspecifiedMatching MONDO:0043959 pseudolymphoma skos:exactMatch UMLS:C0221269 semapv:UnspecifiedMatching MONDO:0043959 pseudolymphoma skos:exactMatch mesh:D019310 semapv:UnspecifiedMatching MONDO:0043969 nocturnal paroxysmal dystonia skos:exactMatch MEDGEN:95991 semapv:UnspecifiedMatching MONDO:0043969 nocturnal paroxysmal dystonia skos:exactMatch SCTID:230500006 semapv:UnspecifiedMatching MONDO:0043969 nocturnal paroxysmal dystonia skos:exactMatch UMLS:C0393777 semapv:UnspecifiedMatching MONDO:0043969 nocturnal paroxysmal dystonia skos:exactMatch mesh:D020183 semapv:UnspecifiedMatching MONDO:0043975 autonomic dysreflexia skos:exactMatch ICD10CM:G90.4 Autonomic dysreflexia semapv:UnspecifiedMatching MONDO:0043975 autonomic dysreflexia skos:exactMatch MEDGEN:66758 semapv:UnspecifiedMatching MONDO:0043975 autonomic dysreflexia skos:exactMatch SCTID:129618003 semapv:UnspecifiedMatching MONDO:0043975 autonomic dysreflexia skos:exactMatch UMLS:C0238015 semapv:UnspecifiedMatching MONDO:0043975 autonomic dysreflexia skos:exactMatch icd11.foundation:1401282234 Autonomic dysreflexia semapv:UnspecifiedMatching MONDO:0043975 autonomic dysreflexia skos:exactMatch mesh:D020211 semapv:UnspecifiedMatching MONDO:0043982 cubital tunnel syndrome skos:exactMatch MEDGEN:104813 semapv:UnspecifiedMatching MONDO:0043982 cubital tunnel syndrome skos:exactMatch SCTID:56177003 semapv:UnspecifiedMatching MONDO:0043982 cubital tunnel syndrome skos:exactMatch UMLS:C0206239 semapv:UnspecifiedMatching MONDO:0043982 cubital tunnel syndrome skos:exactMatch mesh:D020430 semapv:UnspecifiedMatching MONDO:0043985 central nervous system lupus skos:exactMatch MEDGEN:156265 semapv:UnspecifiedMatching MONDO:0043985 central nervous system lupus skos:exactMatch NCIT:C116919 Central Nervous System Lupus semapv:UnspecifiedMatching MONDO:0043985 central nervous system lupus skos:exactMatch UMLS:C0752332 semapv:UnspecifiedMatching MONDO:0043985 central nervous system lupus skos:exactMatch mesh:D020945 semapv:UnspecifiedMatching MONDO:0043988 zoster sine herpete skos:exactMatch MEDGEN:253902 semapv:UnspecifiedMatching MONDO:0043988 zoster sine herpete skos:exactMatch SCTID:449783002 semapv:UnspecifiedMatching MONDO:0043988 zoster sine herpete skos:exactMatch UMLS:C1135841 semapv:UnspecifiedMatching MONDO:0043988 zoster sine herpete skos:exactMatch mesh:D031368 semapv:UnspecifiedMatching MONDO:0043994 acute cholecystitis skos:exactMatch ICD10CM:K81.0 Acute cholecystitis semapv:UnspecifiedMatching MONDO:0043994 acute cholecystitis skos:exactMatch MEDGEN:57682 semapv:UnspecifiedMatching MONDO:0043994 acute cholecystitis skos:exactMatch NCIT:C35152 Acute Cholecystitis semapv:UnspecifiedMatching MONDO:0043994 acute cholecystitis skos:exactMatch SCTID:65275009 semapv:UnspecifiedMatching MONDO:0043994 acute cholecystitis skos:exactMatch UMLS:C0149520 semapv:UnspecifiedMatching MONDO:0043994 acute cholecystitis skos:exactMatch icd11.foundation:2071113448 Acute cholecystitis semapv:UnspecifiedMatching MONDO:0043994 acute cholecystitis skos:exactMatch mesh:D041881 semapv:UnspecifiedMatching MONDO:0044001 hearing loss, mixed conductive-sensorineural skos:exactMatch MEDGEN:102336 semapv:UnspecifiedMatching MONDO:0044001 hearing loss, mixed conductive-sensorineural skos:exactMatch NCIT:C26974 Mixed Hearing Loss semapv:UnspecifiedMatching MONDO:0044001 hearing loss, mixed conductive-sensorineural skos:exactMatch SCTID:77507001 semapv:UnspecifiedMatching MONDO:0044001 hearing loss, mixed conductive-sensorineural skos:exactMatch UMLS:C0155552 semapv:UnspecifiedMatching MONDO:0044001 hearing loss, mixed conductive-sensorineural skos:exactMatch mesh:D046089 semapv:UnspecifiedMatching MONDO:0044013 puerperal disorder skos:exactMatch EFO:0009683 semapv:UnspecifiedMatching MONDO:0044013 puerperal disorder skos:exactMatch MEDGEN:18758 semapv:UnspecifiedMatching MONDO:0044013 puerperal disorder skos:exactMatch SCTID:362973001 semapv:UnspecifiedMatching MONDO:0044013 puerperal disorder skos:exactMatch UMLS:C0034040 semapv:UnspecifiedMatching MONDO:0044013 puerperal disorder skos:exactMatch mesh:D011644 semapv:UnspecifiedMatching MONDO:0044014 postpartum thyroiditis skos:exactMatch EFO:1001403 semapv:UnspecifiedMatching MONDO:0044014 postpartum thyroiditis skos:exactMatch MEDGEN:78787 semapv:UnspecifiedMatching MONDO:0044014 postpartum thyroiditis skos:exactMatch NCIT:C114389 Postpartum Thyroiditis semapv:UnspecifiedMatching MONDO:0044014 postpartum thyroiditis skos:exactMatch SCTID:52772002 semapv:UnspecifiedMatching MONDO:0044014 postpartum thyroiditis skos:exactMatch UMLS:C0271815 semapv:UnspecifiedMatching MONDO:0044014 postpartum thyroiditis skos:exactMatch icd11.foundation:1577113218 Postpartum thyroiditis semapv:UnspecifiedMatching MONDO:0044014 postpartum thyroiditis skos:exactMatch mesh:D050032 semapv:UnspecifiedMatching MONDO:0044033 posterior leukoencephalopathy syndrome skos:exactMatch ICD10CM:I67.83 Posterior reversible encephalopathy syndrome semapv:UnspecifiedMatching MONDO:0044033 posterior leukoencephalopathy syndrome skos:exactMatch MEDGEN:163898 semapv:UnspecifiedMatching MONDO:0044033 posterior leukoencephalopathy syndrome skos:exactMatch NCIT:C78598 Reversible Posterior Leukoencephalopathy Syndrome semapv:UnspecifiedMatching MONDO:0044033 posterior leukoencephalopathy syndrome skos:exactMatch SCTID:450886002 semapv:UnspecifiedMatching MONDO:0044033 posterior leukoencephalopathy syndrome skos:exactMatch UMLS:C0878576 semapv:UnspecifiedMatching MONDO:0044033 posterior leukoencephalopathy syndrome skos:exactMatch mesh:D054038 semapv:UnspecifiedMatching MONDO:0044037 livedo reticularis skos:exactMatch MEDGEN:43223 semapv:UnspecifiedMatching MONDO:0044037 livedo reticularis skos:exactMatch SCTID:238772004 semapv:UnspecifiedMatching MONDO:0044037 livedo reticularis skos:exactMatch UMLS:C0085642 semapv:UnspecifiedMatching MONDO:0044037 livedo reticularis skos:exactMatch mesh:D054068 semapv:UnspecifiedMatching MONDO:0044067 candidiasis, invasive skos:exactMatch MEDGEN:296300 semapv:UnspecifiedMatching MONDO:0044067 candidiasis, invasive skos:exactMatch NCIT:C116813 Invasive Candidiasis semapv:UnspecifiedMatching MONDO:0044067 candidiasis, invasive skos:exactMatch Orphanet:636945 Invasive candidiasis semapv:UnspecifiedMatching MONDO:0044067 candidiasis, invasive skos:exactMatch UMLS:C1609535 semapv:UnspecifiedMatching MONDO:0044067 candidiasis, invasive skos:exactMatch mesh:D058365 semapv:UnspecifiedMatching MONDO:0044070 candidemia skos:exactMatch MEDGEN:163760 semapv:UnspecifiedMatching MONDO:0044070 candidemia skos:exactMatch SCTID:432261003 semapv:UnspecifiedMatching MONDO:0044070 candidemia skos:exactMatch UMLS:C0877445 semapv:UnspecifiedMatching MONDO:0044070 candidemia skos:exactMatch mesh:D058387 semapv:UnspecifiedMatching MONDO:0044079 cardio-renal syndrome skos:exactMatch MEDGEN:453248 semapv:UnspecifiedMatching MONDO:0044079 cardio-renal syndrome skos:exactMatch NCIT:C123225 Cardiorenal Syndrome semapv:UnspecifiedMatching MONDO:0044079 cardio-renal syndrome skos:exactMatch SCTID:445236007 semapv:UnspecifiedMatching MONDO:0044079 cardio-renal syndrome skos:exactMatch UMLS:C2242703 semapv:UnspecifiedMatching MONDO:0044079 cardio-renal syndrome skos:exactMatch mesh:D059347 semapv:UnspecifiedMatching MONDO:0044083 alternariosis skos:exactMatch MEDGEN:465430 semapv:UnspecifiedMatching MONDO:0044083 alternariosis skos:exactMatch SCTID:238436005 semapv:UnspecifiedMatching MONDO:0044083 alternariosis skos:exactMatch UMLS:C3178962 semapv:UnspecifiedMatching MONDO:0044083 alternariosis skos:exactMatch mesh:D060487 semapv:UnspecifiedMatching MONDO:0044092 collagenous sprue skos:exactMatch MEDGEN:137953 semapv:UnspecifiedMatching MONDO:0044092 collagenous sprue skos:exactMatch NCIT:C45426 Collagenous Sprue semapv:UnspecifiedMatching MONDO:0044092 collagenous sprue skos:exactMatch SCTID:61738006 semapv:UnspecifiedMatching MONDO:0044092 collagenous sprue skos:exactMatch UMLS:C0341299 semapv:UnspecifiedMatching MONDO:0044092 collagenous sprue skos:exactMatch icd11.foundation:562877246 Collagenous sprue semapv:UnspecifiedMatching MONDO:0044092 collagenous sprue skos:exactMatch mesh:D064068 semapv:UnspecifiedMatching MONDO:0044098 ovarian ectopic pregnancy skos:exactMatch MEDGEN:46073 semapv:UnspecifiedMatching MONDO:0044098 ovarian ectopic pregnancy skos:exactMatch NCIT:C92945 Ovarian Pregnancy semapv:UnspecifiedMatching MONDO:0044098 ovarian ectopic pregnancy skos:exactMatch SCTID:9899009 semapv:UnspecifiedMatching MONDO:0044098 ovarian ectopic pregnancy skos:exactMatch UMLS:C0032991 semapv:UnspecifiedMatching MONDO:0044098 ovarian ectopic pregnancy skos:exactMatch mesh:D065172 semapv:UnspecifiedMatching MONDO:0044101 pregnancy, cornual skos:exactMatch MEDGEN:452359 semapv:UnspecifiedMatching MONDO:0044101 pregnancy, cornual skos:exactMatch NCIT:C92761 Cornual Pregnancy semapv:UnspecifiedMatching MONDO:0044101 pregnancy, cornual skos:exactMatch SCTID:87605005 semapv:UnspecifiedMatching MONDO:0044101 pregnancy, cornual skos:exactMatch UMLS:C0269286 semapv:UnspecifiedMatching MONDO:0044101 pregnancy, cornual skos:exactMatch mesh:D065173 semapv:UnspecifiedMatching MONDO:0044113 bullous systemic lupus erythematosus skos:exactMatch MEDGEN:592738 semapv:UnspecifiedMatching MONDO:0044113 bullous systemic lupus erythematosus skos:exactMatch NCIT:C117104 Bullous Systemic Lupus Erythematosus semapv:UnspecifiedMatching MONDO:0044113 bullous systemic lupus erythematosus skos:exactMatch SCTID:239889005 semapv:UnspecifiedMatching MONDO:0044113 bullous systemic lupus erythematosus skos:exactMatch UMLS:C0409977 semapv:UnspecifiedMatching MONDO:0044137 vitreous body disorder skos:exactMatch EFO:0008624 semapv:UnspecifiedMatching MONDO:0044137 vitreous body disorder skos:exactMatch MEDGEN:56361 semapv:UnspecifiedMatching MONDO:0044137 vitreous body disorder skos:exactMatch NCIT:C45256 Vitreous Body Disorder semapv:UnspecifiedMatching MONDO:0044137 vitreous body disorder skos:exactMatch SCTID:76682005 semapv:UnspecifiedMatching MONDO:0044137 vitreous body disorder skos:exactMatch UMLS:C0155365 semapv:UnspecifiedMatching MONDO:0044138 hyalitis skos:exactMatch MEDGEN:68620 semapv:UnspecifiedMatching MONDO:0044138 hyalitis skos:exactMatch NCIT:C50587 Hyalitis semapv:UnspecifiedMatching MONDO:0044138 hyalitis skos:exactMatch SCTID:95802009 semapv:UnspecifiedMatching MONDO:0044138 hyalitis skos:exactMatch UMLS:C0235812 semapv:UnspecifiedMatching MONDO:0044141 panic disorder without agoraphobia skos:exactMatch MEDGEN:472968 semapv:UnspecifiedMatching MONDO:0044141 panic disorder without agoraphobia skos:exactMatch NCIT:C97193 Panic Disorder without Agoraphobia semapv:UnspecifiedMatching MONDO:0044141 panic disorder without agoraphobia skos:exactMatch SCTID:56576003 semapv:UnspecifiedMatching MONDO:0044141 panic disorder without agoraphobia skos:exactMatch UMLS:C0236794 semapv:UnspecifiedMatching MONDO:0044144 panic disorder with agoraphobia skos:exactMatch ICD10CM:F40.01 Agoraphobia with panic disorder semapv:UnspecifiedMatching MONDO:0044144 panic disorder with agoraphobia skos:exactMatch MEDGEN:472969 semapv:UnspecifiedMatching MONDO:0044144 panic disorder with agoraphobia skos:exactMatch NCIT:C97194 Panic Disorder with Agoraphobia semapv:UnspecifiedMatching MONDO:0044144 panic disorder with agoraphobia skos:exactMatch SCTID:35607004 semapv:UnspecifiedMatching MONDO:0044144 panic disorder with agoraphobia skos:exactMatch UMLS:C0236800 semapv:UnspecifiedMatching MONDO:0044200 T-B+ severe combined immunodeficiency skos:exactMatch MEDGEN:1842847 semapv:UnspecifiedMatching MONDO:0044200 T-B+ severe combined immunodeficiency skos:exactMatch Orphanet:317416 T-B+ severe combined immunodeficiency semapv:UnspecifiedMatching MONDO:0044200 T-B+ severe combined immunodeficiency skos:exactMatch UMLS:C5679894 semapv:UnspecifiedMatching MONDO:0044201 T+ B+ severe combined immunodeficiency skos:exactMatch MEDGEN:1842248 semapv:UnspecifiedMatching MONDO:0044201 T+ B+ severe combined immunodeficiency skos:exactMatch Orphanet:397802 T+ B+ severe combined immunodeficiency semapv:UnspecifiedMatching MONDO:0044201 T+ B+ severe combined immunodeficiency skos:exactMatch UMLS:C5681156 semapv:UnspecifiedMatching MONDO:0044202 episodic kinesigenic dyskinesia skos:exactMatch MEDGEN:358268 semapv:UnspecifiedMatching MONDO:0044202 episodic kinesigenic dyskinesia skos:exactMatch OMIMPS:128200 Episodic kinesigenic dyskinesia semapv:UnspecifiedMatching MONDO:0044202 episodic kinesigenic dyskinesia skos:exactMatch Orphanet:98809 Paroxysmal kinesigenic dyskinesia semapv:UnspecifiedMatching MONDO:0044202 episodic kinesigenic dyskinesia skos:exactMatch UMLS:C1868682 semapv:UnspecifiedMatching MONDO:0044203 foveal hypoplasia skos:exactMatch MEDGEN:393047 semapv:UnspecifiedMatching MONDO:0044203 foveal hypoplasia skos:exactMatch OMIMPS:136520 Foveal hypoplasia semapv:UnspecifiedMatching MONDO:0044203 foveal hypoplasia skos:exactMatch UMLS:C2673946 semapv:UnspecifiedMatching MONDO:0044204 Shwachman-Diamond syndrome 1 skos:exactMatch MEDGEN:1640046 semapv:UnspecifiedMatching MONDO:0044204 Shwachman-Diamond syndrome 1 skos:exactMatch OMIM:260400 shwachman-diamond syndrome 1 semapv:UnspecifiedMatching MONDO:0044204 Shwachman-Diamond syndrome 1 skos:exactMatch UMLS:C4692625 semapv:UnspecifiedMatching MONDO:0044205 Shwachman-Diamond syndrome 2 skos:exactMatch MEDGEN:1634617 semapv:UnspecifiedMatching MONDO:0044205 Shwachman-Diamond syndrome 2 skos:exactMatch OMIM:617941 shwachman-diamond syndrome 2 semapv:UnspecifiedMatching MONDO:0044205 Shwachman-Diamond syndrome 2 skos:exactMatch UMLS:C4693704 semapv:UnspecifiedMatching MONDO:0044206 otospondylomegaepiphyseal dysplasia, autosomal recessive skos:exactMatch OMIM:215150 otospondylomegaepiphyseal dysplasia, autosomal recessive semapv:UnspecifiedMatching MONDO:0044207 specific granule deficiency 1 skos:exactMatch MEDGEN:1644049 semapv:UnspecifiedMatching MONDO:0044207 specific granule deficiency 1 skos:exactMatch OMIM:245480 specific granule deficiency 1 semapv:UnspecifiedMatching MONDO:0044207 specific granule deficiency 1 skos:exactMatch UMLS:C4551556 semapv:UnspecifiedMatching MONDO:0044208 specific granule deficiency 2 skos:exactMatch MEDGEN:1371952 semapv:UnspecifiedMatching MONDO:0044208 specific granule deficiency 2 skos:exactMatch OMIM:617475 specific granule deficiency 2 semapv:UnspecifiedMatching MONDO:0044208 specific granule deficiency 2 skos:exactMatch UMLS:C4479548 semapv:UnspecifiedMatching MONDO:0044209 disorder of lectin complement activation pathway skos:exactMatch OMIMPS:614372 Lectin complement activation pathway defects semapv:UnspecifiedMatching MONDO:0044210 thalassemia minor skos:exactMatch DOID:0080774 thalassemia minor semapv:UnspecifiedMatching MONDO:0044210 thalassemia minor skos:exactMatch ICD10CM:D56.3 Thalassemia minor semapv:UnspecifiedMatching MONDO:0044210 thalassemia minor skos:exactMatch MEDGEN:450549 semapv:UnspecifiedMatching MONDO:0044210 thalassemia minor skos:exactMatch SCTID:19442009 semapv:UnspecifiedMatching MONDO:0044210 thalassemia minor skos:exactMatch UMLS:C0869532 semapv:UnspecifiedMatching MONDO:0044211 idiopathic urticaria skos:exactMatch ICD10CM:L50.1 Idiopathic urticaria semapv:UnspecifiedMatching MONDO:0044211 idiopathic urticaria skos:exactMatch MEDGEN:510411 semapv:UnspecifiedMatching MONDO:0044211 idiopathic urticaria skos:exactMatch SCTID:42265009 semapv:UnspecifiedMatching MONDO:0044211 idiopathic urticaria skos:exactMatch UMLS:C0157741 semapv:UnspecifiedMatching MONDO:0044212 chronic idiopathic urticaria skos:exactMatch DOID:0080749 chronic spontaneous urticaria semapv:UnspecifiedMatching MONDO:0044212 chronic idiopathic urticaria skos:exactMatch MEDGEN:662267 semapv:UnspecifiedMatching MONDO:0044212 chronic idiopathic urticaria skos:exactMatch SCTID:302162004 semapv:UnspecifiedMatching MONDO:0044212 chronic idiopathic urticaria skos:exactMatch UMLS:C0578870 semapv:UnspecifiedMatching MONDO:0044213 acute idiopathic urticaria skos:exactMatch MEDGEN:662266 semapv:UnspecifiedMatching MONDO:0044213 acute idiopathic urticaria skos:exactMatch SCTID:302161006 semapv:UnspecifiedMatching MONDO:0044213 acute idiopathic urticaria skos:exactMatch UMLS:C0578869 semapv:UnspecifiedMatching MONDO:0044214 obsolete androstenone, ability to smell skos:exactMatch OMIM:105570 androstenone, ability to smell semapv:UnspecifiedMatching MONDO:0044215 obsolete arm folding preference skos:exactMatch OMIM:107850 arm folding preference semapv:UnspecifiedMatching MONDO:0044216 obsolete artichoke, modification of taste by skos:exactMatch OMIM:108320 artichoke, modification of taste by semapv:UnspecifiedMatching MONDO:0044217 obsolete asparagus, specific smell hypersensitivity skos:exactMatch OMIM:108390 asparagus, specific smell hypersensitivity semapv:UnspecifiedMatching MONDO:0044218 obsolete beeturia skos:exactMatch OMIM:109600 beeturia semapv:UnspecifiedMatching MONDO:0044219 obsolete blood group, duffy system skos:exactMatch OMIM:110700 blood group, duffy system semapv:UnspecifiedMatching MONDO:0044220 obsolete blood group, 1 system skos:exactMatch OMIM:110800 blood group, 1 system semapv:UnspecifiedMatching MONDO:0044221 obsolete blood group--lutheran inhibitor skos:exactMatch OMIM:111150 blood group--lutheran inhibitor semapv:UnspecifiedMatching MONDO:0044222 obsolete blood group, p1pk system skos:exactMatch OMIM:111400 blood group, p1pk system semapv:UnspecifiedMatching MONDO:0044223 obsolete radin blood group antigen skos:exactMatch OMIM:111620 radin blood group antigen semapv:UnspecifiedMatching MONDO:0044224 obsolete apocrine gland secretion, variation 1n skos:exactMatch OMIM:117800 apocrine gland secretion, variation 1n semapv:UnspecifiedMatching MONDO:0044227 obsolete dimples, facial skos:exactMatch OMIM:126100 dimples, facial semapv:UnspecifiedMatching MONDO:0044228 obsolete eegbqtl skos:exactMatch OMIM:130190 electroencephalographic pattern, beta frequency, quantitative trait locus semapv:UnspecifiedMatching MONDO:0044229 obsolete epiblepharon of lower 51d skos:exactMatch OMIM:131450 epiblepharon of lower 51d semapv:UnspecifiedMatching MONDO:0044230 obsolete epiblepharon of upper 51d skos:exactMatch OMIM:131460 epiblepharon of upper 51d semapv:UnspecifiedMatching MONDO:0044231 obsolete eyebrow, whorl 1n skos:exactMatch OMIM:133800 eyebrow, whorl 1n semapv:UnspecifiedMatching MONDO:0044232 obsolete fingers, relative length of skos:exactMatch OMIM:136100 fingers, relative length of semapv:UnspecifiedMatching MONDO:0044233 obsolete hair whorl skos:exactMatch OMIM:139400 hair whorl semapv:UnspecifiedMatching MONDO:0044234 obsolete hrm2 skos:exactMatch OMIM:139450 hair morphology 2 semapv:UnspecifiedMatching MONDO:0044235 obsolete hsr skos:exactMatch OMIM:139900 hand skill, relative semapv:UnspecifiedMatching MONDO:0044236 obsolete hepatitis b vaccine, response to skos:exactMatch OMIM:142395 hepatitis B vaccine, response to semapv:UnspecifiedMatching MONDO:0044237 obsolete hypercholesterolemia suppressor skos:exactMatch OMIM:144020 hypercholesterolemia suppressor semapv:UnspecifiedMatching MONDO:0044238 obsolete lunulae of fingernails skos:exactMatch OMIM:152600 lunulae of fingernails semapv:UnspecifiedMatching MONDO:0044239 obsolete median-ulnar nerve communications skos:exactMatch OMIM:155150 median-ulnar nerve communications semapv:UnspecifiedMatching MONDO:0044240 obsolete musical perfect pitch skos:exactMatch OMIM:159300 musical perfect pitch semapv:UnspecifiedMatching MONDO:0044241 obsolete mydriatic response to pharmacologic agents skos:exactMatch OMIM:159410 mydriatic response to pharmacologic agents semapv:UnspecifiedMatching MONDO:0044242 obsolete mydriasis, congenital skos:exactMatch OMIM:159420 mydriasis, congenital semapv:UnspecifiedMatching MONDO:0044243 obsolete nail high-sulfur protein skos:exactMatch OMIM:161070 nail high-sulfur protein semapv:UnspecifiedMatching MONDO:0044244 obsolete nail low-sulfur protein skos:exactMatch OMIM:161080 nail low-sulfur protein semapv:UnspecifiedMatching MONDO:0044245 obsolete nailbeds, pigmentation of skos:exactMatch OMIM:161100 nailbeds, pigmentation of semapv:UnspecifiedMatching MONDO:0044246 obsolete nystagmus, voluntary skos:exactMatch OMIM:164170 nystagmus, voluntary semapv:UnspecifiedMatching MONDO:0044247 obsolete palmomental reflex skos:exactMatch OMIM:167700 palmomental reflex semapv:UnspecifiedMatching MONDO:0044248 obsolete thiourea tasting skos:exactMatch OMIM:171200 thiourea tasting semapv:UnspecifiedMatching MONDO:0044249 obsolete alkaline phosphatase, plasma level of, quantitative trait locus 1 skos:exactMatch OMIM:171720 alkaline phosphatase, plasma level of, quantitative trait locus 1 semapv:UnspecifiedMatching MONDO:0044250 obsolete tongue curling, folding, or rolling skos:exactMatch OMIM:189300 tongue curling, folding, or rolling semapv:UnspecifiedMatching MONDO:0044251 obsolete australia antigen skos:exactMatch OMIM:209800 semapv:UnspecifiedMatching MONDO:0044252 obsolete skin/hair/eye pigmentation, variation in, 6 skos:exactMatch OMIM:210750 skin/hair/eye pigmentation, variation in, 6 semapv:UnspecifiedMatching MONDO:0044253 obsolete dermatoglyphics--palmar triradius d, absence of skos:exactMatch OMIM:221760 dermatoglyphics--palmar triradius d, absence of semapv:UnspecifiedMatching MONDO:0044254 obsolete dermatoglyphics--hypothenar radial arch skos:exactMatch OMIM:221780 dermatoglyphics--hypothenar radial arch semapv:UnspecifiedMatching MONDO:0044255 obsolete skin/hair/eye pigmentation, variation in, 1 skos:exactMatch OMIM:227220 skin/hair/eye pigmentation, variation in, 1 semapv:UnspecifiedMatching MONDO:0044256 obsolete skin/hair/eye pigmentation, variation in, 5 skos:exactMatch OMIM:227240 skin/hair/eye pigmentation, variation in, 5 semapv:UnspecifiedMatching MONDO:0044257 obsolete lutheran null skos:exactMatch OMIM:247420 lutheran null semapv:UnspecifiedMatching MONDO:0044258 obsolete methane production skos:exactMatch OMIM:250650 methane production semapv:UnspecifiedMatching MONDO:0044259 obsolete skin/hair/eye pigmentation, variation in, 2 skos:exactMatch OMIM:266300 skin/hair/eye pigmentation, variation in, 2 semapv:UnspecifiedMatching MONDO:0044261 obsolete menoq1 skos:exactMatch OMIM:300488 menopause, natural, age at, quantitative trait locus 1 semapv:UnspecifiedMatching MONDO:0044262 obsolete cyanide, inability to smell skos:exactMatch OMIM:304300 cyanide, inability to smell semapv:UnspecifiedMatching MONDO:0044264 obsolete radial loop, plain, on right index finger skos:exactMatch OMIM:312200 radial loop, plain, on right index finger semapv:UnspecifiedMatching MONDO:0044265 obsolete tooth size skos:exactMatch OMIM:314240 tooth size semapv:UnspecifiedMatching MONDO:0044268 obsolete transsexuality skos:exactMatch OMIM:600952 transsexuality semapv:UnspecifiedMatching MONDO:0044269 obsolete novelty seeking personality trait skos:exactMatch OMIM:601696 novelty seeking personality trait semapv:UnspecifiedMatching MONDO:0044270 obsolete bilirubin, serum level of, quantitative trait locus 1 skos:exactMatch OMIM:601816 bilirubin, serum level of, quantitative trait locus 1 semapv:UnspecifiedMatching MONDO:0044271 obsolete bone mineral density quantitative trait locus 1 skos:exactMatch OMIM:601884 bone mineral density quantitative trait locus 1 semapv:UnspecifiedMatching MONDO:0044272 obsolete body mass index quantitative trait locus 9 skos:exactMatch OMIM:602025 body mass index quantitative trait locus 9 semapv:UnspecifiedMatching MONDO:0044273 obsolete hypertension, diastolic, resistance to skos:exactMatch OMIM:608622 hypertension, diastolic, resistance to semapv:UnspecifiedMatching MONDO:0044274 obsolete hemoglobin, high altitude adaptation skos:exactMatch OMIM:609070 hemoglobin, high altitude adaptation semapv:UnspecifiedMatching MONDO:0044275 obsolete carotid intimal medial thickness 1 skos:exactMatch OMIM:609338 carotid intimal medial thickness 1 semapv:UnspecifiedMatching MONDO:0044276 obsolete skin/hair/eye pigmentation, variation in, 11 skos:exactMatch OMIM:612271 skin/hair/eye pigmentation, variation in, 11 semapv:UnspecifiedMatching MONDO:0044277 obsolete uric acid concentration, serum, quantitative trait locus 4 skos:exactMatch OMIM:612671 uric acid concentration, serum, quantitative trait locus 4 semapv:UnspecifiedMatching MONDO:0044278 obsolete short sleeper skos:exactMatch OMIMPS:612975 Short sleep, familial natural semapv:UnspecifiedMatching MONDO:0044279 obsolete bone mineral density quantitative trait locus 15 skos:exactMatch OMIM:613418 bone mineral density quantitative trait locus 15 semapv:UnspecifiedMatching MONDO:0044280 obsolete glycerol quantitative trait locus skos:exactMatch OMIM:614411 glycerol quantitative trait locus semapv:UnspecifiedMatching MONDO:0044281 obsolete c3hex, ability to smell skos:exactMatch OMIM:615082 c3hex, ability to smell semapv:UnspecifiedMatching MONDO:0044282 obsolete blood group, vel system skos:exactMatch OMIM:615264 blood group, VEL system semapv:UnspecifiedMatching MONDO:0044283 obsolete body mass index quantitative trait locus 18 skos:exactMatch OMIM:615457 body mass index quantitative trait locus 18 semapv:UnspecifiedMatching MONDO:0044284 obsolete blood group, gerbich system skos:exactMatch OMIM:616089 blood group, gerbich system semapv:UnspecifiedMatching MONDO:0044299 myasthenic syndrome, congenital, 22 skos:exactMatch DOID:0080587 congenital myasthenic syndrome 22 semapv:UnspecifiedMatching MONDO:0044299 myasthenic syndrome, congenital, 22 skos:exactMatch MEDGEN:1393545 semapv:UnspecifiedMatching MONDO:0044299 myasthenic syndrome, congenital, 22 skos:exactMatch OMIM:616224 myasthenic syndrome, congenital, 22 semapv:UnspecifiedMatching MONDO:0044299 myasthenic syndrome, congenital, 22 skos:exactMatch UMLS:C4479088 semapv:UnspecifiedMatching MONDO:0044300 familial adenomatous polyposis 4 skos:exactMatch DOID:0080412 familial adenomatous polyposis 4 semapv:UnspecifiedMatching MONDO:0044300 familial adenomatous polyposis 4 skos:exactMatch MEDGEN:934686 semapv:UnspecifiedMatching MONDO:0044300 familial adenomatous polyposis 4 skos:exactMatch OMIM:617100 familial adenomatous polyposis 4 semapv:UnspecifiedMatching MONDO:0044300 familial adenomatous polyposis 4 skos:exactMatch Orphanet:480536 MSH3-related polyposis semapv:UnspecifiedMatching MONDO:0044300 familial adenomatous polyposis 4 skos:exactMatch UMLS:C4310719 semapv:UnspecifiedMatching MONDO:0044301 aortic aneurysm, familial thoracic 11, susceptibility to skos:exactMatch MEDGEN:1377970 semapv:UnspecifiedMatching MONDO:0044301 aortic aneurysm, familial thoracic 11, susceptibility to skos:exactMatch OMIM:617349 aortic aneurysm, familial thoracic 11, susceptibility to semapv:UnspecifiedMatching MONDO:0044301 aortic aneurysm, familial thoracic 11, susceptibility to skos:exactMatch UMLS:C4479235 semapv:UnspecifiedMatching MONDO:0044302 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder skos:exactMatch DOID:0112247 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder semapv:UnspecifiedMatching MONDO:0044302 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder skos:exactMatch MEDGEN:1385307 semapv:UnspecifiedMatching MONDO:0044302 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder skos:exactMatch OMIM:617360 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder semapv:UnspecifiedMatching MONDO:0044302 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder skos:exactMatch Orphanet:646278 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome semapv:UnspecifiedMatching MONDO:0044302 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder skos:exactMatch UMLS:C4479246 semapv:UnspecifiedMatching MONDO:0044303 congenital heart defects and ectodermal dysplasia skos:exactMatch MEDGEN:1387409 semapv:UnspecifiedMatching MONDO:0044303 congenital heart defects and ectodermal dysplasia skos:exactMatch OMIM:617364 congenital heart defects and ectodermal dysplasia semapv:UnspecifiedMatching MONDO:0044303 congenital heart defects and ectodermal dysplasia skos:exactMatch UMLS:C4479250 semapv:UnspecifiedMatching MONDO:0044304 hyperphenylalaninemia due to DNAJC12 deficiency skos:exactMatch MEDGEN:1391882 semapv:UnspecifiedMatching MONDO:0044304 hyperphenylalaninemia due to DNAJC12 deficiency skos:exactMatch OMIM:617384 hyperphenylalaninemia, mild, non-bh4-deficient semapv:UnspecifiedMatching MONDO:0044304 hyperphenylalaninemia due to DNAJC12 deficiency skos:exactMatch Orphanet:508523 Hyperphenylalaninemia due to DNAJC12 deficiency semapv:UnspecifiedMatching MONDO:0044304 hyperphenylalaninemia due to DNAJC12 deficiency skos:exactMatch UMLS:C4479270 semapv:UnspecifiedMatching MONDO:0044305 ectodermal dysplasia 13, hair/tooth type skos:exactMatch DOID:0111650 ectodermal dysplasia 13 semapv:UnspecifiedMatching MONDO:0044305 ectodermal dysplasia 13, hair/tooth type skos:exactMatch MEDGEN:1387448 semapv:UnspecifiedMatching MONDO:0044305 ectodermal dysplasia 13, hair/tooth type skos:exactMatch OMIM:617392 ectodermal dysplasia 13, hair/tooth type semapv:UnspecifiedMatching MONDO:0044305 ectodermal dysplasia 13, hair/tooth type skos:exactMatch UMLS:C4479322 semapv:UnspecifiedMatching MONDO:0044306 neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination skos:exactMatch MEDGEN:1377894 semapv:UnspecifiedMatching MONDO:0044306 neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination skos:exactMatch OMIM:617393 neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination semapv:UnspecifiedMatching MONDO:0044306 neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination skos:exactMatch Orphanet:500545 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract semapv:UnspecifiedMatching MONDO:0044306 neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination skos:exactMatch UMLS:C4479333 semapv:UnspecifiedMatching MONDO:0044308 bardet-biedl syndrome 21 skos:exactMatch DOID:0081010 Bardet-Biedl syndrome 21 semapv:UnspecifiedMatching MONDO:0044308 bardet-biedl syndrome 21 skos:exactMatch MEDGEN:1374358 semapv:UnspecifiedMatching MONDO:0044308 bardet-biedl syndrome 21 skos:exactMatch OMIM:617406 bardet-biedl syndrome 21 semapv:UnspecifiedMatching MONDO:0044308 bardet-biedl syndrome 21 skos:exactMatch UMLS:C4319932 semapv:UnspecifiedMatching MONDO:0044309 Diamond-Blackfan anemia 16 skos:exactMatch DOID:0111893 Diamond-Blackfan anemia 16 semapv:UnspecifiedMatching MONDO:0044309 Diamond-Blackfan anemia 16 skos:exactMatch MEDGEN:1385861 semapv:UnspecifiedMatching MONDO:0044309 Diamond-Blackfan anemia 16 skos:exactMatch OMIM:617408 diamond-blackfan anemia 16 semapv:UnspecifiedMatching MONDO:0044309 Diamond-Blackfan anemia 16 skos:exactMatch UMLS:C4479424 semapv:UnspecifiedMatching MONDO:0044310 Diamond-Blackfan anemia 17 skos:exactMatch DOID:0111880 Diamond-Blackfan anemia 17 semapv:UnspecifiedMatching MONDO:0044310 Diamond-Blackfan anemia 17 skos:exactMatch MEDGEN:1373199 semapv:UnspecifiedMatching MONDO:0044310 Diamond-Blackfan anemia 17 skos:exactMatch OMIM:617409 diamond-blackfan anemia 17 semapv:UnspecifiedMatching MONDO:0044310 Diamond-Blackfan anemia 17 skos:exactMatch UMLS:C4479428 semapv:UnspecifiedMatching MONDO:0044311 brachycephaly, trichomegaly, and developmental delay skos:exactMatch DOID:0070415 brachycephaly, trichomegaly, and developmental delay semapv:UnspecifiedMatching MONDO:0044311 brachycephaly, trichomegaly, and developmental delay skos:exactMatch MEDGEN:1374289 semapv:UnspecifiedMatching MONDO:0044311 brachycephaly, trichomegaly, and developmental delay skos:exactMatch OMIM:617412 brachycephaly, trichomegaly, and developmental delay semapv:UnspecifiedMatching MONDO:0044311 brachycephaly, trichomegaly, and developmental delay skos:exactMatch UMLS:C4479431 semapv:UnspecifiedMatching MONDO:0044312 immunoskeletal dysplasia with neurodevelopmental abnormalities skos:exactMatch MEDGEN:1381460 semapv:UnspecifiedMatching MONDO:0044312 immunoskeletal dysplasia with neurodevelopmental abnormalities skos:exactMatch OMIM:617425 immunoskeletal dysplasia with neurodevelopmental abnormalities semapv:UnspecifiedMatching MONDO:0044312 immunoskeletal dysplasia with neurodevelopmental abnormalities skos:exactMatch UMLS:C4479452 semapv:UnspecifiedMatching MONDO:0044313 intellectual disability, autosomal recessive 60 skos:exactMatch DOID:0081222 autosomal recessive intellectual developmental disorder 60 semapv:UnspecifiedMatching MONDO:0044313 intellectual disability, autosomal recessive 60 skos:exactMatch MEDGEN:1373351 semapv:UnspecifiedMatching MONDO:0044313 intellectual disability, autosomal recessive 60 skos:exactMatch OMIM:617432 intellectual developmental disorder, autosomal recessive 60 semapv:UnspecifiedMatching MONDO:0044313 intellectual disability, autosomal recessive 60 skos:exactMatch UMLS:C4479476 semapv:UnspecifiedMatching MONDO:0044314 retinitis pigmentosa 78 skos:exactMatch DOID:0061113 retinitis pigmentosa 78 semapv:UnspecifiedMatching MONDO:0044314 retinitis pigmentosa 78 skos:exactMatch MEDGEN:1378790 semapv:UnspecifiedMatching MONDO:0044314 retinitis pigmentosa 78 skos:exactMatch OMIM:617433 retinitis pigmentosa 78 semapv:UnspecifiedMatching MONDO:0044314 retinitis pigmentosa 78 skos:exactMatch UMLS:C4479481 semapv:UnspecifiedMatching MONDO:0044315 craniosynostosis 7 skos:exactMatch DOID:0060912 craniosynostosis 7 semapv:UnspecifiedMatching MONDO:0044315 craniosynostosis 7 skos:exactMatch MEDGEN:1392447 semapv:UnspecifiedMatching MONDO:0044315 craniosynostosis 7 skos:exactMatch OMIM:617439 craniosynostosis 7 semapv:UnspecifiedMatching MONDO:0044315 craniosynostosis 7 skos:exactMatch UMLS:C4479496 semapv:UnspecifiedMatching MONDO:0044316 thrombocytopenia, anemia, and myelofibrosis skos:exactMatch MEDGEN:1378448 semapv:UnspecifiedMatching MONDO:0044316 thrombocytopenia, anemia, and myelofibrosis skos:exactMatch OMIM:617441 thrombocytopenia, anemia, and myelofibrosis semapv:UnspecifiedMatching MONDO:0044316 thrombocytopenia, anemia, and myelofibrosis skos:exactMatch UMLS:C4479504 semapv:UnspecifiedMatching MONDO:0044317 premature ovarian failure 13 skos:exactMatch DOID:0080870 primary ovarian insufficiency 13 semapv:UnspecifiedMatching MONDO:0044317 premature ovarian failure 13 skos:exactMatch MEDGEN:1393321 semapv:UnspecifiedMatching MONDO:0044317 premature ovarian failure 13 skos:exactMatch OMIM:617442 premature ovarian failure 13 semapv:UnspecifiedMatching MONDO:0044317 premature ovarian failure 13 skos:exactMatch UMLS:C4479510 semapv:UnspecifiedMatching MONDO:0044318 intellectual developmental disorder with gastrointestinal difficulties and high pain threshold skos:exactMatch MEDGEN:1385744 semapv:UnspecifiedMatching MONDO:0044318 intellectual developmental disorder with gastrointestinal difficulties and high pain threshold skos:exactMatch OMIM:617450 jansen-de vries syndrome semapv:UnspecifiedMatching MONDO:0044318 intellectual developmental disorder with gastrointestinal difficulties and high pain threshold skos:exactMatch Orphanet:653767 Jansen-de Vries syndrome semapv:UnspecifiedMatching MONDO:0044318 intellectual developmental disorder with gastrointestinal difficulties and high pain threshold skos:exactMatch UMLS:C4479517 semapv:UnspecifiedMatching MONDO:0044319 intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies skos:exactMatch MEDGEN:1375601 semapv:UnspecifiedMatching MONDO:0044319 intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies skos:exactMatch OMIM:617452 intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies semapv:UnspecifiedMatching MONDO:0044319 intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies skos:exactMatch Orphanet:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome semapv:UnspecifiedMatching MONDO:0044319 intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies skos:exactMatch UMLS:C4479520 semapv:UnspecifiedMatching MONDO:0044320 retinitis pigmentosa 79 skos:exactMatch DOID:0061108 retinitis pigmentosa 79 semapv:UnspecifiedMatching MONDO:0044320 retinitis pigmentosa 79 skos:exactMatch MEDGEN:1386200 semapv:UnspecifiedMatching MONDO:0044320 retinitis pigmentosa 79 skos:exactMatch OMIM:617460 retinitis pigmentosa 79 semapv:UnspecifiedMatching MONDO:0044320 retinitis pigmentosa 79 skos:exactMatch UMLS:C4479526 semapv:UnspecifiedMatching MONDO:0044321 structural heart defects and renal anomalies syndrome skos:exactMatch MEDGEN:1387412 semapv:UnspecifiedMatching MONDO:0044321 structural heart defects and renal anomalies syndrome skos:exactMatch OMIM:617478 structural heart defects and renal anomalies syndrome semapv:UnspecifiedMatching MONDO:0044321 structural heart defects and renal anomalies syndrome skos:exactMatch Orphanet:689822 Structural heart defects-renal anomalies syndrome semapv:UnspecifiedMatching MONDO:0044321 structural heart defects and renal anomalies syndrome skos:exactMatch UMLS:C4479549 semapv:UnspecifiedMatching MONDO:0044322 intellectual developmental disorder with neuropsychiatric features skos:exactMatch MEDGEN:1379216 semapv:UnspecifiedMatching MONDO:0044322 intellectual developmental disorder with neuropsychiatric features skos:exactMatch OMIM:617532 intellectual developmental disorder with neuropsychiatric features semapv:UnspecifiedMatching MONDO:0044322 intellectual developmental disorder with neuropsychiatric features skos:exactMatch UMLS:C4479636 semapv:UnspecifiedMatching MONDO:0044323 Rahman syndrome skos:exactMatch MEDGEN:1388282 semapv:UnspecifiedMatching MONDO:0044323 Rahman syndrome skos:exactMatch OMIM:617537 rahman syndrome semapv:UnspecifiedMatching MONDO:0044323 Rahman syndrome skos:exactMatch Orphanet:642763 Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation semapv:UnspecifiedMatching MONDO:0044323 Rahman syndrome skos:exactMatch UMLS:C4479637 semapv:UnspecifiedMatching MONDO:0044324 Al Kaissi syndrome skos:exactMatch MEDGEN:1611968 semapv:UnspecifiedMatching MONDO:0044324 Al Kaissi syndrome skos:exactMatch OMIM:617694 al kaissi syndrome semapv:UnspecifiedMatching MONDO:0044324 Al Kaissi syndrome skos:exactMatch UMLS:C4540156 semapv:UnspecifiedMatching MONDO:0044325 Fanconi anemia, complementation group W skos:exactMatch DOID:0060978 Fanconi anemia complementation group W semapv:UnspecifiedMatching MONDO:0044325 Fanconi anemia, complementation group W skos:exactMatch MEDGEN:1621245 semapv:UnspecifiedMatching MONDO:0044325 Fanconi anemia, complementation group W skos:exactMatch OMIM:617784 fanconi anemia, complementation group w semapv:UnspecifiedMatching MONDO:0044325 Fanconi anemia, complementation group W skos:exactMatch UMLS:C4521564 semapv:UnspecifiedMatching MONDO:0044326 developmental delay and seizures with or without movement abnormalities skos:exactMatch DOID:0080473 developmental delay and seizures with or without movement abnormalities semapv:UnspecifiedMatching MONDO:0044326 developmental delay and seizures with or without movement abnormalities skos:exactMatch MEDGEN:1641343 semapv:UnspecifiedMatching MONDO:0044326 developmental delay and seizures with or without movement abnormalities skos:exactMatch OMIM:617836 developmental delay and seizures with or without movement abnormalities semapv:UnspecifiedMatching MONDO:0044326 developmental delay and seizures with or without movement abnormalities skos:exactMatch UMLS:C4693376 semapv:UnspecifiedMatching MONDO:0044327 polycystic liver disease 4 with or without kidney cysts skos:exactMatch DOID:0060977 polycystic liver disease 4 semapv:UnspecifiedMatching MONDO:0044327 polycystic liver disease 4 with or without kidney cysts skos:exactMatch MEDGEN:1644991 semapv:UnspecifiedMatching MONDO:0044327 polycystic liver disease 4 with or without kidney cysts skos:exactMatch OMIM:617875 polycystic liver disease 4 with or without kidney cysts semapv:UnspecifiedMatching MONDO:0044327 polycystic liver disease 4 with or without kidney cysts skos:exactMatch UMLS:C4693479 semapv:UnspecifiedMatching MONDO:0044328 short-rib thoracic dysplasia 20 with polydactyly skos:exactMatch MEDGEN:1634931 semapv:UnspecifiedMatching MONDO:0044328 short-rib thoracic dysplasia 20 with polydactyly skos:exactMatch OMIM:617925 short-rib thoracic dysplasia 20 with polydactyly semapv:UnspecifiedMatching MONDO:0044328 short-rib thoracic dysplasia 20 with polydactyly skos:exactMatch UMLS:C4693616 semapv:UnspecifiedMatching MONDO:0044329 osteogenesis imperfecta, type 18 skos:exactMatch DOID:0111848 osteogenesis imperfecta type 18 semapv:UnspecifiedMatching MONDO:0044329 osteogenesis imperfecta, type 18 skos:exactMatch MEDGEN:1635201 semapv:UnspecifiedMatching MONDO:0044329 osteogenesis imperfecta, type 18 skos:exactMatch OMIM:617952 osteogenesis imperfecta, type 18 semapv:UnspecifiedMatching MONDO:0044329 osteogenesis imperfecta, type 18 skos:exactMatch UMLS:C4693736 semapv:UnspecifiedMatching MONDO:0044330 hyperekplexia 4 skos:exactMatch DOID:0080581 hyperekplexia 4 semapv:UnspecifiedMatching MONDO:0044330 hyperekplexia 4 skos:exactMatch MEDGEN:1642659 semapv:UnspecifiedMatching MONDO:0044330 hyperekplexia 4 skos:exactMatch OMIM:618011 hyperekplexia 4 semapv:UnspecifiedMatching MONDO:0044330 hyperekplexia 4 skos:exactMatch UMLS:C4693933 semapv:UnspecifiedMatching MONDO:0044332 childhood-onset benign chorea with striatal involvement skos:exactMatch MEDGEN:1798886 semapv:UnspecifiedMatching MONDO:0044332 childhood-onset benign chorea with striatal involvement skos:exactMatch Orphanet:494541 Childhood-onset benign chorea with striatal involvement semapv:UnspecifiedMatching MONDO:0044332 childhood-onset benign chorea with striatal involvement skos:exactMatch UMLS:C5567463 semapv:UnspecifiedMatching MONDO:0044333 alcohol-induced Wernicke-Korsakoff's syndrome skos:exactMatch MEDGEN:312391 semapv:UnspecifiedMatching MONDO:0044333 alcohol-induced Wernicke-Korsakoff's syndrome skos:exactMatch NCIT:C34366 Alcohol-Induced Wernicke-Korsakoff's Syndrome semapv:UnspecifiedMatching MONDO:0044333 alcohol-induced Wernicke-Korsakoff's syndrome skos:exactMatch UMLS:C1704427 semapv:UnspecifiedMatching MONDO:0044334 connective and soft tissue neoplasm skos:exactMatch MEDGEN:60224 semapv:UnspecifiedMatching MONDO:0044334 connective and soft tissue neoplasm skos:exactMatch NCIT:C3810 Connective and Soft Tissue Neoplasm semapv:UnspecifiedMatching MONDO:0044334 connective and soft tissue neoplasm skos:exactMatch UMLS:C0206765 semapv:UnspecifiedMatching MONDO:0044335 benign soft tissue neoplasm skos:exactMatch MEDGEN:83151 semapv:UnspecifiedMatching MONDO:0044335 benign soft tissue neoplasm skos:exactMatch NCIT:C4242 Benign Soft Tissue Neoplasm semapv:UnspecifiedMatching MONDO:0044335 benign soft tissue neoplasm skos:exactMatch SCTID:92069005 semapv:UnspecifiedMatching MONDO:0044335 benign soft tissue neoplasm skos:exactMatch UMLS:C0334450 semapv:UnspecifiedMatching MONDO:0044336 colorectal signet ring cell carcinoma skos:exactMatch MEDGEN:313040 semapv:UnspecifiedMatching MONDO:0044336 colorectal signet ring cell carcinoma skos:exactMatch NCIT:C43586 Colorectal Signet Ring Cell Adenocarcinoma semapv:UnspecifiedMatching MONDO:0044336 colorectal signet ring cell carcinoma skos:exactMatch UMLS:C1707440 semapv:UnspecifiedMatching MONDO:0044337 stromal sarcoma skos:exactMatch MEDGEN:235091 semapv:UnspecifiedMatching MONDO:0044337 stromal sarcoma skos:exactMatch NCIT:C6926 Stromal Sarcoma semapv:UnspecifiedMatching MONDO:0044337 stromal sarcoma skos:exactMatch UMLS:C1370723 semapv:UnspecifiedMatching MONDO:0044338 autoimmune primary ovarian failure skos:exactMatch MEDGEN:575071 semapv:UnspecifiedMatching MONDO:0044338 autoimmune primary ovarian failure skos:exactMatch SCTID:237790001 semapv:UnspecifiedMatching MONDO:0044338 autoimmune primary ovarian failure skos:exactMatch UMLS:C0342508 semapv:UnspecifiedMatching MONDO:0044339 lumbar disk degenerative disorder skos:exactMatch MEDGEN:57852 semapv:UnspecifiedMatching MONDO:0044339 lumbar disk degenerative disorder skos:exactMatch NCIT:C27154 Lumbar Disc Degenerative Disorder semapv:UnspecifiedMatching MONDO:0044339 lumbar disk degenerative disorder skos:exactMatch SCTID:26538006 semapv:UnspecifiedMatching MONDO:0044339 lumbar disk degenerative disorder skos:exactMatch UMLS:C0158252 semapv:UnspecifiedMatching MONDO:0044339 lumbar disk degenerative disorder skos:exactMatch mesh:C535531 semapv:UnspecifiedMatching MONDO:0044342 thoracic disk degenerative disorder skos:exactMatch MEDGEN:120491 semapv:UnspecifiedMatching MONDO:0044342 thoracic disk degenerative disorder skos:exactMatch NCIT:C27155 Thoracic Disc Degenerative Disorder semapv:UnspecifiedMatching MONDO:0044342 thoracic disk degenerative disorder skos:exactMatch SCTID:68675004 semapv:UnspecifiedMatching MONDO:0044342 thoracic disk degenerative disorder skos:exactMatch UMLS:C0263872 semapv:UnspecifiedMatching MONDO:0044343 cervical disk degenerative disorder skos:exactMatch EFO:0009537 semapv:UnspecifiedMatching MONDO:0044343 cervical disk degenerative disorder skos:exactMatch MEDGEN:96081 semapv:UnspecifiedMatching MONDO:0044343 cervical disk degenerative disorder skos:exactMatch NCIT:C27156 Cervical Disc Degenerative Disorder semapv:UnspecifiedMatching MONDO:0044343 cervical disk degenerative disorder skos:exactMatch SCTID:69195002 semapv:UnspecifiedMatching MONDO:0044343 cervical disk degenerative disorder skos:exactMatch UMLS:C0410606 semapv:UnspecifiedMatching MONDO:0044344 Schistosoma japonicum infectious disease skos:exactMatch NCIT:C35001 Schistosoma Japonicum Infection semapv:UnspecifiedMatching MONDO:0044344 Schistosoma japonicum infectious disease skos:exactMatch SCTID:268058007 semapv:UnspecifiedMatching MONDO:0044344 Schistosoma japonicum infectious disease skos:exactMatch mesh:D012554 semapv:UnspecifiedMatching MONDO:0044345 Schistosoma mansoni infectious disease skos:exactMatch NCIT:C35002 Schistosoma Mansoni Infection semapv:UnspecifiedMatching MONDO:0044345 Schistosoma mansoni infectious disease skos:exactMatch SCTID:750009 semapv:UnspecifiedMatching MONDO:0044345 Schistosoma mansoni infectious disease skos:exactMatch mesh:D012555 semapv:UnspecifiedMatching MONDO:0044346 echinococcus granulosus infectious disease skos:exactMatch MEDGEN:508866 semapv:UnspecifiedMatching MONDO:0044346 echinococcus granulosus infectious disease skos:exactMatch SCTID:75006000 semapv:UnspecifiedMatching MONDO:0044346 echinococcus granulosus infectious disease skos:exactMatch UMLS:C0152068 semapv:UnspecifiedMatching MONDO:0044347 erythrocyte disorder skos:exactMatch MEDGEN:526127 semapv:UnspecifiedMatching MONDO:0044347 erythrocyte disorder skos:exactMatch SCTID:38292009 semapv:UnspecifiedMatching MONDO:0044347 erythrocyte disorder skos:exactMatch UMLS:C0221016 semapv:UnspecifiedMatching MONDO:0044348 hemoglobinopathy skos:exactMatch MEDGEN:42400 semapv:UnspecifiedMatching MONDO:0044348 hemoglobinopathy skos:exactMatch SCTID:80141007 semapv:UnspecifiedMatching MONDO:0044348 hemoglobinopathy skos:exactMatch UMLS:C0019045 semapv:UnspecifiedMatching MONDO:0044349 acquired hemoglobinopathy skos:exactMatch MEDGEN:688237 semapv:UnspecifiedMatching MONDO:0044349 acquired hemoglobinopathy skos:exactMatch SCTID:127039000 semapv:UnspecifiedMatching MONDO:0044349 acquired hemoglobinopathy skos:exactMatch UMLS:C1263995 semapv:UnspecifiedMatching MONDO:0044350 hyperparathyroidism, primary, caused by water clear cell hyperplasia skos:exactMatch MEDGEN:325036 semapv:UnspecifiedMatching MONDO:0044350 hyperparathyroidism, primary, caused by water clear cell hyperplasia skos:exactMatch OMIM:600166 hyperparathyroidism, primary, caused by water clear cell hyperplasia semapv:UnspecifiedMatching MONDO:0044350 hyperparathyroidism, primary, caused by water clear cell hyperplasia skos:exactMatch UMLS:C1838501 semapv:UnspecifiedMatching MONDO:0044350 hyperparathyroidism, primary, caused by water clear cell hyperplasia skos:exactMatch mesh:C563982 semapv:UnspecifiedMatching MONDO:0044351 Schistosoma intercalatum infectious disease skos:exactMatch MEDGEN:124448 semapv:UnspecifiedMatching MONDO:0044351 Schistosoma intercalatum infectious disease skos:exactMatch NCIT:C35364 Infection by Schistosoma Intercalatum semapv:UnspecifiedMatching MONDO:0044351 Schistosoma intercalatum infectious disease skos:exactMatch SCTID:52179003 semapv:UnspecifiedMatching MONDO:0044351 Schistosoma intercalatum infectious disease skos:exactMatch UMLS:C0276932 semapv:UnspecifiedMatching MONDO:0044355 isolated sternocostoclavicular hyperostosis skos:exactMatch MEDGEN:1640582 semapv:UnspecifiedMatching MONDO:0044355 isolated sternocostoclavicular hyperostosis skos:exactMatch Orphanet:178311 Isolated sternocostoclavicular hyperostosis semapv:UnspecifiedMatching MONDO:0044355 isolated sternocostoclavicular hyperostosis skos:exactMatch SCTID:766711009 semapv:UnspecifiedMatching MONDO:0044355 isolated sternocostoclavicular hyperostosis skos:exactMatch UMLS:C4707796 semapv:UnspecifiedMatching MONDO:0044406 arthrogryposis-ectodermal dysplasia-other anomalies syndrome skos:exactMatch MEDGEN:1674099 semapv:UnspecifiedMatching MONDO:0044406 arthrogryposis-ectodermal dysplasia-other anomalies syndrome skos:exactMatch Orphanet:3200 Arthrogryposis-ectodermal dysplasia syndrome semapv:UnspecifiedMatching MONDO:0044406 arthrogryposis-ectodermal dysplasia-other anomalies syndrome skos:exactMatch UMLS:C5191837 semapv:UnspecifiedMatching MONDO:0044617 X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome skos:exactMatch MEDGEN:1798943 semapv:UnspecifiedMatching MONDO:0044617 X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome skos:exactMatch Orphanet:482606 X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome semapv:UnspecifiedMatching MONDO:0044617 X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome skos:exactMatch UMLS:C5567520 semapv:UnspecifiedMatching MONDO:0044619 propylthiouracil embryofetopathy skos:exactMatch MEDGEN:1798942 semapv:UnspecifiedMatching MONDO:0044619 propylthiouracil embryofetopathy skos:exactMatch Orphanet:485358 Propylthiouracil embryofetopathy semapv:UnspecifiedMatching MONDO:0044619 propylthiouracil embryofetopathy skos:exactMatch UMLS:C5567519 semapv:UnspecifiedMatching MONDO:0044621 16p12.1p12.3 triplication syndrome skos:exactMatch MEDGEN:1814451 semapv:UnspecifiedMatching MONDO:0044621 16p12.1p12.3 triplication syndrome skos:exactMatch Orphanet:485405 16p12.1p12.3 triplication syndrome semapv:UnspecifiedMatching MONDO:0044621 16p12.1p12.3 triplication syndrome skos:exactMatch UMLS:C5680097 semapv:UnspecifiedMatching MONDO:0044622 EMILIN-1-related connective tissue disease skos:exactMatch MEDGEN:1814474 semapv:UnspecifiedMatching MONDO:0044622 EMILIN-1-related connective tissue disease skos:exactMatch Orphanet:485418 EMILIN-1-related connective tissue disease semapv:UnspecifiedMatching MONDO:0044622 EMILIN-1-related connective tissue disease skos:exactMatch UMLS:C5681244 semapv:UnspecifiedMatching MONDO:0044624 pediatric collagenous gastritis skos:exactMatch MEDGEN:1805938 semapv:UnspecifiedMatching MONDO:0044624 pediatric collagenous gastritis skos:exactMatch Orphanet:487809 Pediatric collagenous gastritis semapv:UnspecifiedMatching MONDO:0044624 pediatric collagenous gastritis skos:exactMatch UMLS:C5680109 semapv:UnspecifiedMatching MONDO:0044625 autosomal dominant charcot-marie-tooth disease type 2 due to DGAT2 mutation skos:exactMatch MEDGEN:1798938 semapv:UnspecifiedMatching MONDO:0044625 autosomal dominant charcot-marie-tooth disease type 2 due to DGAT2 mutation skos:exactMatch Orphanet:487814 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation semapv:UnspecifiedMatching MONDO:0044625 autosomal dominant charcot-marie-tooth disease type 2 due to DGAT2 mutation skos:exactMatch UMLS:C5567515 semapv:UnspecifiedMatching MONDO:0044626 female infertility due to oocyte meiotic arrest skos:exactMatch MEDGEN:1798912 semapv:UnspecifiedMatching MONDO:0044626 female infertility due to oocyte meiotic arrest skos:exactMatch Orphanet:488191 Female infertility due to oocyte meiotic arrest semapv:UnspecifiedMatching MONDO:0044626 female infertility due to oocyte meiotic arrest skos:exactMatch UMLS:C5567489 semapv:UnspecifiedMatching MONDO:0044627 acute macular neuroretinopathy skos:exactMatch MEDGEN:1678428 semapv:UnspecifiedMatching MONDO:0044627 acute macular neuroretinopathy skos:exactMatch Orphanet:488239 Acute macular neuroretinopathy semapv:UnspecifiedMatching MONDO:0044627 acute macular neuroretinopathy skos:exactMatch UMLS:C5200735 semapv:UnspecifiedMatching MONDO:0044627 acute macular neuroretinopathy skos:exactMatch icd11.foundation:1081365759 Acute macular neuroretinopathy semapv:UnspecifiedMatching MONDO:0044628 six2-related frontonasal dysplasia skos:exactMatch MEDGEN:1798907 semapv:UnspecifiedMatching MONDO:0044628 six2-related frontonasal dysplasia skos:exactMatch Orphanet:488437 SIX2-related frontonasal dysplasia semapv:UnspecifiedMatching MONDO:0044628 six2-related frontonasal dysplasia skos:exactMatch UMLS:C5567484 semapv:UnspecifiedMatching MONDO:0044629 congenital amyoplasia skos:exactMatch MEDGEN:678346 semapv:UnspecifiedMatching MONDO:0044629 congenital amyoplasia skos:exactMatch Orphanet:488586 Congenital amyoplasia semapv:UnspecifiedMatching MONDO:0044629 congenital amyoplasia skos:exactMatch UMLS:C0812412 semapv:UnspecifiedMatching MONDO:0044632 extracranial carotid artery aneurysm skos:exactMatch MEDGEN:1393749 semapv:UnspecifiedMatching MONDO:0044632 extracranial carotid artery aneurysm skos:exactMatch Orphanet:494424 Extracranial carotid artery aneurysm semapv:UnspecifiedMatching MONDO:0044632 extracranial carotid artery aneurysm skos:exactMatch UMLS:C4476554 semapv:UnspecifiedMatching MONDO:0044633 idiopathic pleuroparenchymal fibroelastosis skos:exactMatch MEDGEN:1798890 semapv:UnspecifiedMatching MONDO:0044633 idiopathic pleuroparenchymal fibroelastosis skos:exactMatch Orphanet:494428 Idiopathic pleuroparenchymal fibroelastosis semapv:UnspecifiedMatching MONDO:0044633 idiopathic pleuroparenchymal fibroelastosis skos:exactMatch UMLS:C5567467 semapv:UnspecifiedMatching MONDO:0044634 retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome skos:exactMatch DOID:0081175 short stature, hearing loss, retinitis pigmentosa, and distinctive facies semapv:UnspecifiedMatching MONDO:0044634 retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome skos:exactMatch MEDGEN:1615526 semapv:UnspecifiedMatching MONDO:0044634 retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome skos:exactMatch OMIM:617763 short stature, hearing loss, retinitis pigmentosa, and distinctive facies semapv:UnspecifiedMatching MONDO:0044634 retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome skos:exactMatch Orphanet:494439 Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome semapv:UnspecifiedMatching MONDO:0044634 retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome skos:exactMatch UMLS:C4540367 semapv:UnspecifiedMatching MONDO:0044635 DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome skos:exactMatch MEDGEN:1798888 semapv:UnspecifiedMatching MONDO:0044635 DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome skos:exactMatch Orphanet:494444 DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome semapv:UnspecifiedMatching MONDO:0044635 DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome skos:exactMatch UMLS:C5567465 semapv:UnspecifiedMatching MONDO:0044636 obsolete rare hyperkinetic movement disorder skos:exactMatch Orphanet:494457 Rare hyperkinetic movement disorder semapv:UnspecifiedMatching MONDO:0044637 infantile-onset generalized dyskinesia with orofacial involvement skos:exactMatch MEDGEN:1798887 semapv:UnspecifiedMatching MONDO:0044637 infantile-onset generalized dyskinesia with orofacial involvement skos:exactMatch OMIM:616921 dyskinesia, limb and orofacial, infantile-onset semapv:UnspecifiedMatching MONDO:0044637 infantile-onset generalized dyskinesia with orofacial involvement skos:exactMatch Orphanet:494526 Infantile-onset generalized dyskinesia with orofacial involvement semapv:UnspecifiedMatching MONDO:0044637 infantile-onset generalized dyskinesia with orofacial involvement skos:exactMatch UMLS:C5567464 semapv:UnspecifiedMatching MONDO:0044638 hypopharynx squamous cell carcinoma skos:exactMatch EFO:1001960 semapv:UnspecifiedMatching MONDO:0044638 hypopharynx squamous cell carcinoma skos:exactMatch MEDGEN:79102 semapv:UnspecifiedMatching MONDO:0044638 hypopharynx squamous cell carcinoma skos:exactMatch NCIT:C4043 Hypopharyngeal Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0044638 hypopharynx squamous cell carcinoma skos:exactMatch Orphanet:494547 Squamous cell carcinoma of the hypopharynx semapv:UnspecifiedMatching MONDO:0044638 hypopharynx squamous cell carcinoma skos:exactMatch UMLS:C0280321 semapv:UnspecifiedMatching MONDO:0044638 hypopharynx squamous cell carcinoma skos:exactMatch icd11.foundation:680629191 Squamous cell carcinoma of hypopharynx and variants semapv:UnspecifiedMatching MONDO:0044640 Charcot-Marie-Tooth disease type 2T skos:exactMatch Orphanet:495274 Charcot-Marie-Tooth disease type 2T semapv:UnspecifiedMatching MONDO:0044641 9q33.3q34.11 microdeletion syndrome skos:exactMatch MEDGEN:1811810 semapv:UnspecifiedMatching MONDO:0044641 9q33.3q34.11 microdeletion syndrome skos:exactMatch Orphanet:495818 9q33.3q34.11 microdeletion syndrome semapv:UnspecifiedMatching MONDO:0044641 9q33.3q34.11 microdeletion syndrome skos:exactMatch UMLS:C5680085 semapv:UnspecifiedMatching MONDO:0044642 c11orf73-related autosomal recessive hypomyelinating leukodystrophy skos:exactMatch MEDGEN:1798879 semapv:UnspecifiedMatching MONDO:0044642 c11orf73-related autosomal recessive hypomyelinating leukodystrophy skos:exactMatch Orphanet:495844 C11ORF73-related autosomal recessive hypomyelinating leukodystrophy semapv:UnspecifiedMatching MONDO:0044642 c11orf73-related autosomal recessive hypomyelinating leukodystrophy skos:exactMatch UMLS:C5567456 semapv:UnspecifiedMatching MONDO:0044643 congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome skos:exactMatch MEDGEN:1798878 semapv:UnspecifiedMatching MONDO:0044643 congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome skos:exactMatch Orphanet:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome semapv:UnspecifiedMatching MONDO:0044643 congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome skos:exactMatch UMLS:C5567455 semapv:UnspecifiedMatching MONDO:0044644 congenital agenesis of the scrotum skos:exactMatch MEDGEN:1669923 semapv:UnspecifiedMatching MONDO:0044644 congenital agenesis of the scrotum skos:exactMatch Orphanet:495879 Congenital agenesis of the scrotum semapv:UnspecifiedMatching MONDO:0044644 congenital agenesis of the scrotum skos:exactMatch UMLS:C1387020 semapv:UnspecifiedMatching MONDO:0044645 familial monosomy 7 syndrome skos:exactMatch MEDGEN:1826116 semapv:UnspecifiedMatching MONDO:0044645 familial monosomy 7 syndrome skos:exactMatch OMIMPS:252270 Monosomy 7 myelodysplasia and leukemia syndrome semapv:UnspecifiedMatching MONDO:0044645 familial monosomy 7 syndrome skos:exactMatch Orphanet:495930 Familial monosomy 7 syndrome semapv:UnspecifiedMatching MONDO:0044645 familial monosomy 7 syndrome skos:exactMatch UMLS:C5681220 semapv:UnspecifiedMatching MONDO:0044646 early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome skos:exactMatch DOID:0070423 early onset progressive encephalopathy with brain atrophy and thin corpus callosum semapv:UnspecifiedMatching MONDO:0044646 early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome skos:exactMatch MEDGEN:1798877 semapv:UnspecifiedMatching MONDO:0044646 early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome skos:exactMatch OMIM:617193 encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum semapv:UnspecifiedMatching MONDO:0044646 early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome skos:exactMatch Orphanet:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome semapv:UnspecifiedMatching MONDO:0044646 early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome skos:exactMatch UMLS:C5567454 semapv:UnspecifiedMatching MONDO:0044647 kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome skos:exactMatch MEDGEN:1798876 semapv:UnspecifiedMatching MONDO:0044647 kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome skos:exactMatch Orphanet:496686 Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome semapv:UnspecifiedMatching MONDO:0044647 kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome skos:exactMatch UMLS:C5567453 semapv:UnspecifiedMatching MONDO:0044648 kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome skos:exactMatch MEDGEN:1798875 semapv:UnspecifiedMatching MONDO:0044648 kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome skos:exactMatch Orphanet:496689 Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome semapv:UnspecifiedMatching MONDO:0044648 kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome skos:exactMatch UMLS:C5567452 semapv:UnspecifiedMatching MONDO:0044649 omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome skos:exactMatch Orphanet:496693 Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome semapv:UnspecifiedMatching MONDO:0044651 early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome skos:exactMatch MEDGEN:1798874 semapv:UnspecifiedMatching MONDO:0044651 early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome skos:exactMatch Orphanet:496756 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome semapv:UnspecifiedMatching MONDO:0044651 early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome skos:exactMatch UMLS:C5567451 semapv:UnspecifiedMatching MONDO:0044655 obsolete c12orf65-related combined oxidative phosphorylation defect skos:exactMatch Orphanet:497623 C12ORF65-related combined oxidative phosphorylation defect semapv:UnspecifiedMatching MONDO:0044656 epidermolytic nevus skos:exactMatch MEDGEN:724389 semapv:UnspecifiedMatching MONDO:0044656 epidermolytic nevus skos:exactMatch Orphanet:497737 Epidermolytic nevus semapv:UnspecifiedMatching MONDO:0044656 epidermolytic nevus skos:exactMatch SCTID:400142003 semapv:UnspecifiedMatching MONDO:0044656 epidermolytic nevus skos:exactMatch UMLS:C1302848 semapv:UnspecifiedMatching MONDO:0044657 MME-related autosomal dominant Charcot Marie Tooth disease type 2 skos:exactMatch MEDGEN:1798873 semapv:UnspecifiedMatching MONDO:0044657 MME-related autosomal dominant Charcot Marie Tooth disease type 2 skos:exactMatch Orphanet:497757 MME-related autosomal dominant Charcot Marie Tooth disease type 2 semapv:UnspecifiedMatching MONDO:0044657 MME-related autosomal dominant Charcot Marie Tooth disease type 2 skos:exactMatch UMLS:C5567450 semapv:UnspecifiedMatching MONDO:0044660 menstrual cycle-dependent periodic fever skos:exactMatch MEDGEN:766332 semapv:UnspecifiedMatching MONDO:0044660 menstrual cycle-dependent periodic fever skos:exactMatch OMIM:614674 periodic fever, menstrual cycle-dependent semapv:UnspecifiedMatching MONDO:0044660 menstrual cycle-dependent periodic fever skos:exactMatch Orphanet:498251 Menstrual cycle-dependent periodic fever semapv:UnspecifiedMatching MONDO:0044660 menstrual cycle-dependent periodic fever skos:exactMatch UMLS:C3553418 semapv:UnspecifiedMatching MONDO:0044663 aquagenic palmoplantar keratoderma skos:exactMatch MEDGEN:1789947 semapv:UnspecifiedMatching MONDO:0044663 aquagenic palmoplantar keratoderma skos:exactMatch Orphanet:498359 Aquagenic palmoplantar keratoderma semapv:UnspecifiedMatching MONDO:0044663 aquagenic palmoplantar keratoderma skos:exactMatch UMLS:C4087301 semapv:UnspecifiedMatching MONDO:0044675 LRP5-related primary osteoporosis skos:exactMatch MEDGEN:1798664 semapv:UnspecifiedMatching MONDO:0044675 LRP5-related primary osteoporosis skos:exactMatch Orphanet:498481 LRP5-related primary osteoporosis semapv:UnspecifiedMatching MONDO:0044675 LRP5-related primary osteoporosis skos:exactMatch UMLS:C5567241 semapv:UnspecifiedMatching MONDO:0044682 MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome skos:exactMatch MEDGEN:1814448 semapv:UnspecifiedMatching MONDO:0044682 MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome skos:exactMatch Orphanet:498693 MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome semapv:UnspecifiedMatching MONDO:0044682 MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome skos:exactMatch UMLS:C5680092 semapv:UnspecifiedMatching MONDO:0044683 obsolete limbic encephalitis with neurexin-3 antibodies skos:exactMatch Orphanet:498700 OBSOLETE: Limbic encephalitis with neurexin-3 antibodies semapv:UnspecifiedMatching MONDO:0044685 autoimmune/inflammatory optic neuropathy skos:exactMatch MEDGEN:1842963 semapv:UnspecifiedMatching MONDO:0044685 autoimmune/inflammatory optic neuropathy skos:exactMatch Orphanet:499047 Autoimmune/inflammatory optic neuropathy semapv:UnspecifiedMatching MONDO:0044685 autoimmune/inflammatory optic neuropathy skos:exactMatch UMLS:C5681239 semapv:UnspecifiedMatching MONDO:0044687 chronic relapsing inflammatory optic neuropathy skos:exactMatch MEDGEN:1798657 semapv:UnspecifiedMatching MONDO:0044687 chronic relapsing inflammatory optic neuropathy skos:exactMatch Orphanet:499085 Chronic relapsing inflammatory optic neuritis semapv:UnspecifiedMatching MONDO:0044687 chronic relapsing inflammatory optic neuropathy skos:exactMatch UMLS:C5567234 semapv:UnspecifiedMatching MONDO:0044688 isolated optic neuritis skos:exactMatch MEDGEN:1864429 semapv:UnspecifiedMatching MONDO:0044688 isolated optic neuritis skos:exactMatch Orphanet:499096 Isolated optic neuritis semapv:UnspecifiedMatching MONDO:0044688 isolated optic neuritis skos:exactMatch UMLS:C5848152 semapv:UnspecifiedMatching MONDO:0044689 recurrent idiopathic neuroretinitis skos:exactMatch MEDGEN:1814450 semapv:UnspecifiedMatching MONDO:0044689 recurrent idiopathic neuroretinitis skos:exactMatch Orphanet:499103 Recurrent idiopathic neuroretinitis semapv:UnspecifiedMatching MONDO:0044689 recurrent idiopathic neuroretinitis skos:exactMatch UMLS:C5680094 semapv:UnspecifiedMatching MONDO:0044690 optic perineuritis skos:exactMatch MEDGEN:881493 semapv:UnspecifiedMatching MONDO:0044690 optic perineuritis skos:exactMatch Orphanet:499107 Idiopathic optic perineuritis semapv:UnspecifiedMatching MONDO:0044690 optic perineuritis skos:exactMatch SCTID:713417000 semapv:UnspecifiedMatching MONDO:0044690 optic perineuritis skos:exactMatch UMLS:C4076165 semapv:UnspecifiedMatching MONDO:0044690 optic perineuritis skos:exactMatch icd11.foundation:349248275 Perineuritis of optic nerve semapv:UnspecifiedMatching MONDO:0044696 early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome skos:exactMatch MEDGEN:1798652 semapv:UnspecifiedMatching MONDO:0044696 early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome skos:exactMatch OMIM:617669 encephalopathy, progressive, early-onset, with brain atrophy and spasticity semapv:UnspecifiedMatching MONDO:0044696 early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome skos:exactMatch Orphanet:500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome semapv:UnspecifiedMatching MONDO:0044696 early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome skos:exactMatch UMLS:C5567229 semapv:UnspecifiedMatching MONDO:0044699 SIN3A-related intellectual disability syndrome skos:exactMatch Orphanet:500163 Witteveen-Kolk syndrome semapv:UnspecifiedMatching MONDO:0044700 SIN3A-related intellectual disability syndrome due to a point mutation skos:exactMatch MEDGEN:934771 semapv:UnspecifiedMatching MONDO:0044700 SIN3A-related intellectual disability syndrome due to a point mutation skos:exactMatch Orphanet:500166 SIN3-related intellectual disability syndrome due to a point mutation semapv:UnspecifiedMatching MONDO:0044700 SIN3A-related intellectual disability syndrome due to a point mutation skos:exactMatch UMLS:C4310804 semapv:UnspecifiedMatching MONDO:0044701 childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder skos:exactMatch DOID:0070474 childhood-onset neurodegeneration with brain atrophy semapv:UnspecifiedMatching MONDO:0044701 childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder skos:exactMatch MEDGEN:1626007 semapv:UnspecifiedMatching MONDO:0044701 childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder skos:exactMatch OMIM:617672 neurodegeneration, childhood-onset, with brain atrophy semapv:UnspecifiedMatching MONDO:0044701 childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder skos:exactMatch Orphanet:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder semapv:UnspecifiedMatching MONDO:0044701 childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder skos:exactMatch UMLS:C4540086 semapv:UnspecifiedMatching MONDO:0044702 X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome skos:exactMatch DOID:0111738 X-linked deafness 7 semapv:UnspecifiedMatching MONDO:0044702 X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome skos:exactMatch MEDGEN:1648389 semapv:UnspecifiedMatching MONDO:0044702 X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome skos:exactMatch OMIM:301018 deafness, X-linked 7 semapv:UnspecifiedMatching MONDO:0044702 X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome skos:exactMatch Orphanet:500188 X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome semapv:UnspecifiedMatching MONDO:0044702 X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome skos:exactMatch UMLS:C4746975 semapv:UnspecifiedMatching MONDO:0044704 oropharynx squamous cell carcinoma skos:exactMatch DOID:0070664 oropharyngeal squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0044704 oropharynx squamous cell carcinoma skos:exactMatch MEDGEN:76094 semapv:UnspecifiedMatching MONDO:0044704 oropharynx squamous cell carcinoma skos:exactMatch NCIT:C8181 Oropharyngeal Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0044704 oropharynx squamous cell carcinoma skos:exactMatch Orphanet:500478 Squamous cell carcinoma of the oropharynx semapv:UnspecifiedMatching MONDO:0044704 oropharynx squamous cell carcinoma skos:exactMatch UMLS:C0280313 semapv:UnspecifiedMatching MONDO:0044704 oropharynx squamous cell carcinoma skos:exactMatch icd11.foundation:839740136 Squamous cell carcinoma of oropharynx semapv:UnspecifiedMatching MONDO:0044705 paranasal sinus squamous cell carcinoma skos:exactMatch DOID:2442 paranasal sinus squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0044705 paranasal sinus squamous cell carcinoma skos:exactMatch MEDGEN:79105 semapv:UnspecifiedMatching MONDO:0044705 paranasal sinus squamous cell carcinoma skos:exactMatch NCIT:C8193 Paranasal Sinus Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0044705 paranasal sinus squamous cell carcinoma skos:exactMatch Orphanet:500464 Squamous cell carcinoma of the nasal cavity and paranasal sinuses semapv:UnspecifiedMatching MONDO:0044705 paranasal sinus squamous cell carcinoma skos:exactMatch UMLS:C0280334 semapv:UnspecifiedMatching MONDO:0044709 cochleovestibular dysplasia skos:exactMatch MEDGEN:1818562 semapv:UnspecifiedMatching MONDO:0044709 cochleovestibular dysplasia skos:exactMatch Orphanet:502305 Cochleovestibular malformation semapv:UnspecifiedMatching MONDO:0044709 cochleovestibular dysplasia skos:exactMatch UMLS:C5761642 semapv:UnspecifiedMatching MONDO:0044710 lip and oral cavity squamous cell carcinoma skos:exactMatch MEDGEN:124714 semapv:UnspecifiedMatching MONDO:0044710 lip and oral cavity squamous cell carcinoma skos:exactMatch NCIT:C42690 Lip and Oral Cavity Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0044710 lip and oral cavity squamous cell carcinoma skos:exactMatch Orphanet:502369 Squamous cell carcinoma of oral cavity and lip semapv:UnspecifiedMatching MONDO:0044710 lip and oral cavity squamous cell carcinoma skos:exactMatch UMLS:C0280297 semapv:UnspecifiedMatching MONDO:0044714 mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome skos:exactMatch MEDGEN:1620960 semapv:UnspecifiedMatching MONDO:0044714 mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome skos:exactMatch OMIM:617675 myopathy, mitochondrial, and ataxia semapv:UnspecifiedMatching MONDO:0044714 mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome skos:exactMatch Orphanet:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome semapv:UnspecifiedMatching MONDO:0044714 mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome skos:exactMatch UMLS:C4540096 semapv:UnspecifiedMatching MONDO:0044717 4q25 proximal deletion syndrome skos:exactMatch MEDGEN:1814447 semapv:UnspecifiedMatching MONDO:0044717 4q25 proximal deletion syndrome skos:exactMatch Orphanet:502437 4q25 proximal deletion syndrome semapv:UnspecifiedMatching MONDO:0044717 4q25 proximal deletion syndrome skos:exactMatch UMLS:C5680087 semapv:UnspecifiedMatching MONDO:0044718 alkaline ceramidase 3 deficiency skos:exactMatch MEDGEN:1622324 semapv:UnspecifiedMatching MONDO:0044718 alkaline ceramidase 3 deficiency skos:exactMatch OMIM:617762 leukodystrophy, progressive, early childhood-onset semapv:UnspecifiedMatching MONDO:0044718 alkaline ceramidase 3 deficiency skos:exactMatch Orphanet:502444 Alkaline ceramidase 3 deficiency semapv:UnspecifiedMatching MONDO:0044718 alkaline ceramidase 3 deficiency skos:exactMatch UMLS:C4540358 semapv:UnspecifiedMatching MONDO:0044719 erythema multiforme major skos:exactMatch MEDGEN:469028 semapv:UnspecifiedMatching MONDO:0044719 erythema multiforme major skos:exactMatch NCIT:C3385 Erythema Multiforme Major semapv:UnspecifiedMatching MONDO:0044719 erythema multiforme major skos:exactMatch Orphanet:502499 Erythema multiforme major semapv:UnspecifiedMatching MONDO:0044719 erythema multiforme major skos:exactMatch UMLS:C3241919 semapv:UnspecifiedMatching MONDO:0044720 cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome skos:exactMatch DOID:0070148 hereditary sensory neuropathy type 1B semapv:UnspecifiedMatching MONDO:0044720 cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome skos:exactMatch MEDGEN:330880 semapv:UnspecifiedMatching MONDO:0044720 cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome skos:exactMatch MEDGEN:482853 semapv:UnspecifiedMatching MONDO:0044720 cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome skos:exactMatch OMIM:614575 cerebellar ataxia, neuropathy, and vestibular areflexia syndrome semapv:UnspecifiedMatching MONDO:0044720 cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome skos:exactMatch Orphanet:139564 Hereditary sensory and autonomic neuropathy type 1B semapv:UnspecifiedMatching MONDO:0044720 cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome skos:exactMatch Orphanet:504476 Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome semapv:UnspecifiedMatching MONDO:0044720 cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome skos:exactMatch SCTID:717825008 semapv:UnspecifiedMatching MONDO:0044720 cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome skos:exactMatch UMLS:C1842586 semapv:UnspecifiedMatching MONDO:0044720 cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome skos:exactMatch UMLS:C3281223 semapv:UnspecifiedMatching MONDO:0044720 cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome skos:exactMatch mesh:C564296 semapv:UnspecifiedMatching MONDO:0044721 severe combined immunodeficiency due to LAT deficiency skos:exactMatch DOID:0111983 immunodeficiency 52 semapv:UnspecifiedMatching MONDO:0044721 severe combined immunodeficiency due to LAT deficiency skos:exactMatch MEDGEN:1384124 semapv:UnspecifiedMatching MONDO:0044721 severe combined immunodeficiency due to LAT deficiency skos:exactMatch OMIM:617514 immunodeficiency 52 semapv:UnspecifiedMatching MONDO:0044721 severe combined immunodeficiency due to LAT deficiency skos:exactMatch Orphanet:504523 Severe combined immunodeficiency due to LAT deficiency semapv:UnspecifiedMatching MONDO:0044721 severe combined immunodeficiency due to LAT deficiency skos:exactMatch UMLS:C4479588 semapv:UnspecifiedMatching MONDO:0044723 3-methylglutaconic aciduria type 8 skos:exactMatch DOID:0070000 3-methylglutaconic aciduria type 8 semapv:UnspecifiedMatching MONDO:0044723 3-methylglutaconic aciduria type 8 skos:exactMatch MEDGEN:934617 semapv:UnspecifiedMatching MONDO:0044723 3-methylglutaconic aciduria type 8 skos:exactMatch OMIM:617248 3-methylglutaconic aciduria, type 8 semapv:UnspecifiedMatching MONDO:0044723 3-methylglutaconic aciduria type 8 skos:exactMatch Orphanet:505208 3-methylglutaconic aciduria type 8 semapv:UnspecifiedMatching MONDO:0044723 3-methylglutaconic aciduria type 8 skos:exactMatch UMLS:C4310650 semapv:UnspecifiedMatching MONDO:0044724 3-methylglutaconic aciduria type 9 skos:exactMatch DOID:0070002 3-methylglutaconic aciduria type 9 semapv:UnspecifiedMatching MONDO:0044724 3-methylglutaconic aciduria type 9 skos:exactMatch MEDGEN:1622927 semapv:UnspecifiedMatching MONDO:0044724 3-methylglutaconic aciduria type 9 skos:exactMatch OMIM:617698 3-methylglutaconic aciduria, type 9 semapv:UnspecifiedMatching MONDO:0044724 3-methylglutaconic aciduria type 9 skos:exactMatch Orphanet:505216 3-methylglutaconic aciduria type 9 semapv:UnspecifiedMatching MONDO:0044724 3-methylglutaconic aciduria type 9 skos:exactMatch UMLS:C4540171 semapv:UnspecifiedMatching MONDO:0044725 combined immunodeficiency due to GINS1 deficiency skos:exactMatch DOID:0111993 immunodeficiency 55 semapv:UnspecifiedMatching MONDO:0044725 combined immunodeficiency due to GINS1 deficiency skos:exactMatch MEDGEN:1799555 semapv:UnspecifiedMatching MONDO:0044725 combined immunodeficiency due to GINS1 deficiency skos:exactMatch OMIM:617827 immunodeficiency 55 semapv:UnspecifiedMatching MONDO:0044725 combined immunodeficiency due to GINS1 deficiency skos:exactMatch Orphanet:505227 Combined immunodeficiency due to GINS1 deficiency semapv:UnspecifiedMatching MONDO:0044725 combined immunodeficiency due to GINS1 deficiency skos:exactMatch UMLS:C5568132 semapv:UnspecifiedMatching MONDO:0044726 psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome skos:exactMatch MEDGEN:1621949 semapv:UnspecifiedMatching MONDO:0044726 psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome skos:exactMatch OMIM:617595 birk-landau-perez syndrome semapv:UnspecifiedMatching MONDO:0044726 psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome skos:exactMatch Orphanet:505242 Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome semapv:UnspecifiedMatching MONDO:0044726 psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome skos:exactMatch UMLS:C4539828 semapv:UnspecifiedMatching MONDO:0044727 pancreatic carcinoma with mixed differentiation skos:exactMatch MEDGEN:353935 semapv:UnspecifiedMatching MONDO:0044727 pancreatic carcinoma with mixed differentiation skos:exactMatch NCIT:C45843 Pancreatic Mixed Adenoneuroendocrine Carcinoma semapv:UnspecifiedMatching MONDO:0044727 pancreatic carcinoma with mixed differentiation skos:exactMatch Orphanet:506112 Mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas semapv:UnspecifiedMatching MONDO:0044727 pancreatic carcinoma with mixed differentiation skos:exactMatch UMLS:C1709050 semapv:UnspecifiedMatching MONDO:0044737 autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction skos:exactMatch DOID:0112349 hereditary spastic paraplegia 81 semapv:UnspecifiedMatching MONDO:0044737 autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction skos:exactMatch MEDGEN:1799999 semapv:UnspecifiedMatching MONDO:0044737 autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction skos:exactMatch Orphanet:506353 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction semapv:UnspecifiedMatching MONDO:0044737 autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction skos:exactMatch UMLS:C5568576 semapv:UnspecifiedMatching MONDO:0044738 Gabriele de Vries syndrome skos:exactMatch MEDGEN:1375401 semapv:UnspecifiedMatching MONDO:0044738 Gabriele de Vries syndrome skos:exactMatch OMIM:617557 gabriele-de vries syndrome semapv:UnspecifiedMatching MONDO:0044738 Gabriele de Vries syndrome skos:exactMatch Orphanet:506358 Gabriele-de Vries syndrome semapv:UnspecifiedMatching MONDO:0044738 Gabriele de Vries syndrome skos:exactMatch UMLS:C4479652 semapv:UnspecifiedMatching MONDO:0044739 Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome skos:exactMatch MEDGEN:783034 semapv:UnspecifiedMatching MONDO:0044739 Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome skos:exactMatch Orphanet:506784 Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome semapv:UnspecifiedMatching MONDO:0044739 Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome skos:exactMatch UMLS:C3661878 semapv:UnspecifiedMatching MONDO:0044739 Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome skos:exactMatch icd11.foundation:496418968 Stevens-Johnson and toxic epidermal necrolysis overlap syndrome semapv:UnspecifiedMatching MONDO:0044740 salivary gland squamous cell carcinoma skos:exactMatch EFO:1001967 semapv:UnspecifiedMatching MONDO:0044740 salivary gland squamous cell carcinoma skos:exactMatch MEDGEN:83545 semapv:UnspecifiedMatching MONDO:0044740 salivary gland squamous cell carcinoma skos:exactMatch NCIT:C7991 Salivary Gland Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0044740 salivary gland squamous cell carcinoma skos:exactMatch UMLS:C0279697 semapv:UnspecifiedMatching MONDO:0044742 autosomal recessive epidermolytic ichthyosis skos:exactMatch MEDGEN:1725198 semapv:UnspecifiedMatching MONDO:0044742 autosomal recessive epidermolytic ichthyosis skos:exactMatch Orphanet:512103 Autosomal recessive epidermolytic ichthyosis semapv:UnspecifiedMatching MONDO:0044742 autosomal recessive epidermolytic ichthyosis skos:exactMatch UMLS:C5437635 semapv:UnspecifiedMatching MONDO:0044742 autosomal recessive epidermolytic ichthyosis skos:exactMatch icd11.foundation:244597687 Autosomal recessive epidermolytic ichthyosis semapv:UnspecifiedMatching MONDO:0044743 major salivary gland cancer skos:exactMatch MEDGEN:96919 semapv:UnspecifiedMatching MONDO:0044743 major salivary gland cancer skos:exactMatch NCIT:C4762 Malignant Major Salivary Gland Neoplasm semapv:UnspecifiedMatching MONDO:0044743 major salivary gland cancer skos:exactMatch SCTID:363378008 semapv:UnspecifiedMatching MONDO:0044743 major salivary gland cancer skos:exactMatch UMLS:C0496763 semapv:UnspecifiedMatching MONDO:0044744 prekallikrein deficiency skos:exactMatch MEDGEN:75779 semapv:UnspecifiedMatching MONDO:0044744 prekallikrein deficiency skos:exactMatch NCIT:C99022 Prekallikrein Deficiency semapv:UnspecifiedMatching MONDO:0044744 prekallikrein deficiency skos:exactMatch SCTID:48976006 semapv:UnspecifiedMatching MONDO:0044744 prekallikrein deficiency skos:exactMatch UMLS:C0272339 semapv:UnspecifiedMatching MONDO:0044745 nervous system injury skos:exactMatch EFO:0009490 semapv:UnspecifiedMatching MONDO:0044745 nervous system injury skos:exactMatch SCTID:128239009 semapv:UnspecifiedMatching MONDO:0044745 nervous system injury skos:exactMatch mesh:D020196 semapv:UnspecifiedMatching MONDO:0044746 obsolete zoonotic bacterial infection skos:exactMatch ICD10CM:A20-A28 Certain zoonotic bacterial diseases (A20-A28) semapv:UnspecifiedMatching MONDO:0044746 obsolete zoonotic bacterial infection skos:exactMatch NCIT:C35373 Zoonotic Bacterial Infection semapv:UnspecifiedMatching MONDO:0044750 lassa virus infectious disease skos:exactMatch MEDGEN:923253 semapv:UnspecifiedMatching MONDO:0044750 lassa virus infectious disease skos:exactMatch SCTID:721779001 semapv:UnspecifiedMatching MONDO:0044750 lassa virus infectious disease skos:exactMatch UMLS:C1617072 semapv:UnspecifiedMatching MONDO:0044751 chronic diarrheal disease skos:exactMatch MEDGEN:96036 semapv:UnspecifiedMatching MONDO:0044751 chronic diarrheal disease skos:exactMatch SCTID:236071009 semapv:UnspecifiedMatching MONDO:0044751 chronic diarrheal disease skos:exactMatch UMLS:C0401151 semapv:UnspecifiedMatching MONDO:0044753 lumbar spinal stenosis skos:exactMatch MEDGEN:488791 semapv:UnspecifiedMatching MONDO:0044753 lumbar spinal stenosis skos:exactMatch NCIT:C177445 Lumbar Spinal Stenosis semapv:UnspecifiedMatching MONDO:0044753 lumbar spinal stenosis skos:exactMatch SCTID:18347007 semapv:UnspecifiedMatching MONDO:0044753 lumbar spinal stenosis skos:exactMatch UMLS:C0158288 semapv:UnspecifiedMatching MONDO:0044762 diarrheal disease secondary to increased bowel motility skos:exactMatch DOID:0050131 motility-related diarrhea semapv:UnspecifiedMatching MONDO:0044764 benign choroid plexus neoplasm skos:exactMatch MEDGEN:87549 semapv:UnspecifiedMatching MONDO:0044764 benign choroid plexus neoplasm skos:exactMatch NCIT:C8405 Benign Choroid Plexus Neoplasm semapv:UnspecifiedMatching MONDO:0044764 benign choroid plexus neoplasm skos:exactMatch SCTID:254943007 semapv:UnspecifiedMatching MONDO:0044764 benign choroid plexus neoplasm skos:exactMatch UMLS:C0346290 semapv:UnspecifiedMatching MONDO:0044764 benign choroid plexus neoplasm skos:exactMatch icd11.foundation:1168753028 Benign neoplasm of choroid plexus semapv:UnspecifiedMatching MONDO:0044765 steroid-resistant nephrotic syndrome skos:exactMatch MEDGEN:588369 semapv:UnspecifiedMatching MONDO:0044765 steroid-resistant nephrotic syndrome skos:exactMatch NCIT:C122798 Nephrotic Syndrome of Childhood - Steroid Resistant semapv:UnspecifiedMatching MONDO:0044765 steroid-resistant nephrotic syndrome skos:exactMatch SCTID:236381000 semapv:UnspecifiedMatching MONDO:0044765 steroid-resistant nephrotic syndrome skos:exactMatch UMLS:C0403397 semapv:UnspecifiedMatching MONDO:0044767 childhood adrenal gland pheochromocytoma skos:exactMatch DOID:0070325 malignant childhood adrenal gland pheochromocytoma semapv:UnspecifiedMatching MONDO:0044767 childhood adrenal gland pheochromocytoma skos:exactMatch MEDGEN:859271 semapv:UnspecifiedMatching MONDO:0044767 childhood adrenal gland pheochromocytoma skos:exactMatch NCIT:C118822 Childhood Adrenal Gland Pheochromocytoma semapv:UnspecifiedMatching MONDO:0044767 childhood adrenal gland pheochromocytoma skos:exactMatch UMLS:C3899677 semapv:UnspecifiedMatching MONDO:0044768 vagus nerve paraganglioma skos:exactMatch MEDGEN:141635 semapv:UnspecifiedMatching MONDO:0044768 vagus nerve paraganglioma skos:exactMatch NCIT:C8427 Vagal Paraganglioma semapv:UnspecifiedMatching MONDO:0044768 vagus nerve paraganglioma skos:exactMatch SCTID:253030004 semapv:UnspecifiedMatching MONDO:0044768 vagus nerve paraganglioma skos:exactMatch UMLS:C0474819 semapv:UnspecifiedMatching MONDO:0044776 premature ovarian failure 10 skos:exactMatch DOID:0080867 primary ovarian insufficiency 10 semapv:UnspecifiedMatching MONDO:0044776 premature ovarian failure 10 skos:exactMatch MEDGEN:898849 semapv:UnspecifiedMatching MONDO:0044776 premature ovarian failure 10 skos:exactMatch OMIM:612885 premature ovarian failure 10 semapv:UnspecifiedMatching MONDO:0044776 premature ovarian failure 10 skos:exactMatch UMLS:C4225402 semapv:UnspecifiedMatching MONDO:0044777 premature ovarian failure 14 skos:exactMatch DOID:0080871 primary ovarian insufficiency 14 semapv:UnspecifiedMatching MONDO:0044777 premature ovarian failure 14 skos:exactMatch MEDGEN:1646133 semapv:UnspecifiedMatching MONDO:0044777 premature ovarian failure 14 skos:exactMatch OMIM:618014 premature ovarian failure 14 semapv:UnspecifiedMatching MONDO:0044777 premature ovarian failure 14 skos:exactMatch UMLS:C4693941 semapv:UnspecifiedMatching MONDO:0044778 nodular lymphocyte predominant Hodgkin lymphoma skos:exactMatch ICD10CM:C81.0 Nodular lymphocyte predominant Hodgkin lymphoma semapv:UnspecifiedMatching MONDO:0044778 nodular lymphocyte predominant Hodgkin lymphoma skos:exactMatch MEDGEN:233758 semapv:UnspecifiedMatching MONDO:0044778 nodular lymphocyte predominant Hodgkin lymphoma skos:exactMatch NCIT:C7258 Nodular Lymphocyte Predominant B-Cell Lymphoma semapv:UnspecifiedMatching MONDO:0044778 nodular lymphocyte predominant Hodgkin lymphoma skos:exactMatch Orphanet:86893 Nodular lymphocyte predominant Hodgkin lymphoma semapv:UnspecifiedMatching MONDO:0044778 nodular lymphocyte predominant Hodgkin lymphoma skos:exactMatch UMLS:C1334968 semapv:UnspecifiedMatching MONDO:0044778 nodular lymphocyte predominant Hodgkin lymphoma skos:exactMatch icd11.foundation:331115338 Nodular lymphocyte predominant Hodgkin lymphoma semapv:UnspecifiedMatching MONDO:0044781 nephrotic syndrome of childhood - steroid sensitive skos:exactMatch MEDGEN:588368 semapv:UnspecifiedMatching MONDO:0044781 nephrotic syndrome of childhood - steroid sensitive skos:exactMatch NCIT:C122797 Nephrotic Syndrome of Childhood - Steroid Sensitive semapv:UnspecifiedMatching MONDO:0044781 nephrotic syndrome of childhood - steroid sensitive skos:exactMatch SCTID:236380004 semapv:UnspecifiedMatching MONDO:0044781 nephrotic syndrome of childhood - steroid sensitive skos:exactMatch UMLS:C0403396 semapv:UnspecifiedMatching MONDO:0044782 esophageal ulcer skos:exactMatch MEDGEN:56254 semapv:UnspecifiedMatching MONDO:0044782 esophageal ulcer skos:exactMatch NCIT:C26950 Esophageal Ulcer semapv:UnspecifiedMatching MONDO:0044782 esophageal ulcer skos:exactMatch UMLS:C0151970 semapv:UnspecifiedMatching MONDO:0044783 solid papillary breast carcinoma skos:exactMatch MEDGEN:236831 semapv:UnspecifiedMatching MONDO:0044783 solid papillary breast carcinoma skos:exactMatch NCIT:C6870 Breast Solid Papillary Carcinoma semapv:UnspecifiedMatching MONDO:0044783 solid papillary breast carcinoma skos:exactMatch UMLS:C1336027 semapv:UnspecifiedMatching MONDO:0044784 myxoma skos:exactMatch MEDGEN:10160 semapv:UnspecifiedMatching MONDO:0044784 myxoma skos:exactMatch NCIT:C6577 Myxoma semapv:UnspecifiedMatching MONDO:0044784 myxoma skos:exactMatch SCTID:404082003 semapv:UnspecifiedMatching MONDO:0044784 myxoma skos:exactMatch UMLS:C0027149 semapv:UnspecifiedMatching MONDO:0044784 myxoma skos:exactMatch mesh:D009232 semapv:UnspecifiedMatching MONDO:0044785 desmoplastic melanoma skos:exactMatch MEDGEN:232127 semapv:UnspecifiedMatching MONDO:0044785 desmoplastic melanoma skos:exactMatch NCIT:C37257 Desmoplastic Melanoma semapv:UnspecifiedMatching MONDO:0044785 desmoplastic melanoma skos:exactMatch UMLS:C1333280 semapv:UnspecifiedMatching MONDO:0044786 solid pseudopapillary neoplasm of the pancreas skos:exactMatch MEDGEN:234800 semapv:UnspecifiedMatching MONDO:0044786 solid pseudopapillary neoplasm of the pancreas skos:exactMatch NCIT:C37212 Solid Pseudopapillary Neoplasm of the Pancreas semapv:UnspecifiedMatching MONDO:0044786 solid pseudopapillary neoplasm of the pancreas skos:exactMatch UMLS:C1336030 semapv:UnspecifiedMatching MONDO:0044787 nasal cavity and paranasal sinus squamous cell carcinoma skos:exactMatch MEDGEN:124722 semapv:UnspecifiedMatching MONDO:0044787 nasal cavity and paranasal sinus squamous cell carcinoma skos:exactMatch NCIT:C68611 Sinonasal Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0044787 nasal cavity and paranasal sinus squamous cell carcinoma skos:exactMatch UMLS:C0280332 semapv:UnspecifiedMatching MONDO:0044788 perihilar intrahepatic cholangiocarcinoma skos:exactMatch NCIT:C96804 Large Duct Intrahepatic Cholangiocarcinoma semapv:UnspecifiedMatching MONDO:0044789 digital papillary eccrine carcinoma skos:exactMatch DOID:5590 aggressive digital papillary adenocarcinoma semapv:UnspecifiedMatching MONDO:0044789 digital papillary eccrine carcinoma skos:exactMatch MEDGEN:277955 semapv:UnspecifiedMatching MONDO:0044789 digital papillary eccrine carcinoma skos:exactMatch NCIT:C27534 Digital Papillary Adenocarcinoma semapv:UnspecifiedMatching MONDO:0044789 digital papillary eccrine carcinoma skos:exactMatch UMLS:C1367789 semapv:UnspecifiedMatching MONDO:0044791 combined hepatocellular carcinoma and cholangiocarcinoma skos:exactMatch MEDGEN:113160 semapv:UnspecifiedMatching MONDO:0044791 combined hepatocellular carcinoma and cholangiocarcinoma skos:exactMatch NCIT:C3828 Combined Hepatocellular Carcinoma and Cholangiocarcinoma semapv:UnspecifiedMatching MONDO:0044791 combined hepatocellular carcinoma and cholangiocarcinoma skos:exactMatch Orphanet:529852 Combined hepatocellular carcinoma and cholangiocarcinoma semapv:UnspecifiedMatching MONDO:0044791 combined hepatocellular carcinoma and cholangiocarcinoma skos:exactMatch SCTID:274902006 semapv:UnspecifiedMatching MONDO:0044791 combined hepatocellular carcinoma and cholangiocarcinoma skos:exactMatch UMLS:C0221287 semapv:UnspecifiedMatching MONDO:0044791 combined hepatocellular carcinoma and cholangiocarcinoma skos:exactMatch icd11.foundation:1097637010 Combined hepatocellular-cholangiocarcinoma semapv:UnspecifiedMatching MONDO:0044791 combined hepatocellular carcinoma and cholangiocarcinoma skos:exactMatch icd11.foundation:1600108866 semapv:UnspecifiedMatching MONDO:0044791 combined hepatocellular carcinoma and cholangiocarcinoma skos:exactMatch icd11.foundation:894488488 Cholangiohepatoma semapv:UnspecifiedMatching MONDO:0044792 large congenital melanocytic nevus skos:exactMatch DOID:0111359 large congenital melanocytic nevus semapv:UnspecifiedMatching MONDO:0044792 large congenital melanocytic nevus skos:exactMatch MEDGEN:330752 semapv:UnspecifiedMatching MONDO:0044792 large congenital melanocytic nevus skos:exactMatch NCIT:C3944 Congenital Cutaneous Nevus semapv:UnspecifiedMatching MONDO:0044792 large congenital melanocytic nevus skos:exactMatch NCIT:C4234 Cutaneous Giant Congenital Nevus semapv:UnspecifiedMatching MONDO:0044792 large congenital melanocytic nevus skos:exactMatch OMIM:137550 melanocytic nevus syndrome, congenital semapv:UnspecifiedMatching MONDO:0044792 large congenital melanocytic nevus skos:exactMatch Orphanet:626 Large/giant congenital melanocytic nevus semapv:UnspecifiedMatching MONDO:0044792 large congenital melanocytic nevus skos:exactMatch SCTID:254815002 semapv:UnspecifiedMatching MONDO:0044792 large congenital melanocytic nevus skos:exactMatch SCTID:398696001 semapv:UnspecifiedMatching MONDO:0044792 large congenital melanocytic nevus skos:exactMatch UMLS:C1842036 semapv:UnspecifiedMatching MONDO:0044792 large congenital melanocytic nevus skos:exactMatch icd11.foundation:618273329 Giant congenital melanocytic naevus semapv:UnspecifiedMatching MONDO:0044793 spitz nevus skos:exactMatch MEDGEN:1876516 semapv:UnspecifiedMatching MONDO:0044793 spitz nevus skos:exactMatch NCIT:C27007 Cutaneous Spitz Nevus semapv:UnspecifiedMatching MONDO:0044793 spitz nevus skos:exactMatch UMLS:C5979990 semapv:UnspecifiedMatching MONDO:0044794 benign melanocytic skin nevus skos:exactMatch MEDGEN:264151 semapv:UnspecifiedMatching MONDO:0044794 benign melanocytic skin nevus skos:exactMatch NCIT:C7571 Cutaneous Nevus semapv:UnspecifiedMatching MONDO:0044794 benign melanocytic skin nevus skos:exactMatch UMLS:C1456781 semapv:UnspecifiedMatching MONDO:0044795 epithelioid cell nevus skos:exactMatch MEDGEN:75480 semapv:UnspecifiedMatching MONDO:0044795 epithelioid cell nevus skos:exactMatch NCIT:C66757 Epithelioid Cell Nevus semapv:UnspecifiedMatching MONDO:0044795 epithelioid cell nevus skos:exactMatch UMLS:C0259820 semapv:UnspecifiedMatching MONDO:0044796 spindle cell nevus skos:exactMatch MEDGEN:60220 semapv:UnspecifiedMatching MONDO:0044796 spindle cell nevus skos:exactMatch NCIT:C66758 Spindle Cell Nevus semapv:UnspecifiedMatching MONDO:0044796 spindle cell nevus skos:exactMatch SCTID:253038006 semapv:UnspecifiedMatching MONDO:0044796 spindle cell nevus skos:exactMatch UMLS:C0206738 semapv:UnspecifiedMatching MONDO:0044797 desmoplastic nevus skos:exactMatch MEDGEN:91083 semapv:UnspecifiedMatching MONDO:0044797 desmoplastic nevus skos:exactMatch NCIT:C4497 Cutaneous Desmoplastic Nevus semapv:UnspecifiedMatching MONDO:0044797 desmoplastic nevus skos:exactMatch UMLS:C0346098 semapv:UnspecifiedMatching MONDO:0044800 desmoplastic spitz nevus skos:exactMatch MEDGEN:266159 semapv:UnspecifiedMatching MONDO:0044800 desmoplastic spitz nevus skos:exactMatch NCIT:C82864 Cutaneous Desmoplastic Spitz Nevus semapv:UnspecifiedMatching MONDO:0044800 desmoplastic spitz nevus skos:exactMatch SCTID:400022009 semapv:UnspecifiedMatching MONDO:0044800 desmoplastic spitz nevus skos:exactMatch UMLS:C1275419 semapv:UnspecifiedMatching MONDO:0044807 inherited dystonia skos:exactMatch MEDGEN:1842468 semapv:UnspecifiedMatching MONDO:0044807 inherited dystonia skos:exactMatch NCIT:C35527 Familial Dystonia semapv:UnspecifiedMatching MONDO:0044807 inherited dystonia skos:exactMatch OMIMPS:128100 Dystonia semapv:UnspecifiedMatching MONDO:0044807 inherited dystonia skos:exactMatch Orphanet:391799 Rare genetic dystonia semapv:UnspecifiedMatching MONDO:0044807 inherited dystonia skos:exactMatch UMLS:C5680022 semapv:UnspecifiedMatching MONDO:0044811 idiopathic torsion dystonia skos:exactMatch MEDGEN:1850109 semapv:UnspecifiedMatching MONDO:0044811 idiopathic torsion dystonia skos:exactMatch NCIT:C34564 Idiopathic Torsion Dystonia semapv:UnspecifiedMatching MONDO:0044811 idiopathic torsion dystonia skos:exactMatch SCTID:22451001 semapv:UnspecifiedMatching MONDO:0044811 idiopathic torsion dystonia skos:exactMatch UMLS:C5848258 semapv:UnspecifiedMatching MONDO:0044816 familial idiopathic torsion dystonia skos:exactMatch ICD10CM:G24.1 Genetic torsion dystonia semapv:UnspecifiedMatching MONDO:0044816 familial idiopathic torsion dystonia skos:exactMatch MEDGEN:95980 semapv:UnspecifiedMatching MONDO:0044816 familial idiopathic torsion dystonia skos:exactMatch NCIT:C35437 Familial Idiopathic Dystonia semapv:UnspecifiedMatching MONDO:0044816 familial idiopathic torsion dystonia skos:exactMatch SCTID:230318005 semapv:UnspecifiedMatching MONDO:0044816 familial idiopathic torsion dystonia skos:exactMatch UMLS:C0393598 semapv:UnspecifiedMatching MONDO:0044817 acquired idiopathic torsion dystonia skos:exactMatch MEDGEN:98279 semapv:UnspecifiedMatching MONDO:0044817 acquired idiopathic torsion dystonia skos:exactMatch NCIT:C35438 Non-Familial Idiopathic Dystonia semapv:UnspecifiedMatching MONDO:0044817 acquired idiopathic torsion dystonia skos:exactMatch SCTID:230321007 semapv:UnspecifiedMatching MONDO:0044817 acquired idiopathic torsion dystonia skos:exactMatch UMLS:C0393601 semapv:UnspecifiedMatching MONDO:0044843 torsion dystonia skos:exactMatch MEDGEN:3941 semapv:UnspecifiedMatching MONDO:0044843 torsion dystonia skos:exactMatch SCTID:431034009 semapv:UnspecifiedMatching MONDO:0044843 torsion dystonia skos:exactMatch UMLS:C0013423 semapv:UnspecifiedMatching MONDO:0044870 acquired torsion dystonia skos:exactMatch MEDGEN:739598 semapv:UnspecifiedMatching MONDO:0044870 acquired torsion dystonia skos:exactMatch SCTID:433493000 semapv:UnspecifiedMatching MONDO:0044870 acquired torsion dystonia skos:exactMatch UMLS:C1719382 semapv:UnspecifiedMatching MONDO:0044871 dystonia, focal, task-specific skos:exactMatch MEDGEN:370752 semapv:UnspecifiedMatching MONDO:0044871 dystonia, focal, task-specific skos:exactMatch OMIM:611284 dystonia, focal, task-specific semapv:UnspecifiedMatching MONDO:0044871 dystonia, focal, task-specific skos:exactMatch SCTID:230330004 semapv:UnspecifiedMatching MONDO:0044871 dystonia, focal, task-specific skos:exactMatch UMLS:C1969807 semapv:UnspecifiedMatching MONDO:0044871 dystonia, focal, task-specific skos:exactMatch mesh:C566973 semapv:UnspecifiedMatching MONDO:0044872 dysautonomia skos:exactMatch MEDGEN:8511 semapv:UnspecifiedMatching MONDO:0044872 dysautonomia skos:exactMatch NCIT:C53439 Dysautonomia semapv:UnspecifiedMatching MONDO:0044872 dysautonomia skos:exactMatch UMLS:C0013363 semapv:UnspecifiedMatching MONDO:0044873 childhood myelodysplastic syndrome skos:exactMatch MEDGEN:389541 semapv:UnspecifiedMatching MONDO:0044873 childhood myelodysplastic syndrome skos:exactMatch NCIT:C68744 Childhood Myelodysplastic Syndrome semapv:UnspecifiedMatching MONDO:0044873 childhood myelodysplastic syndrome skos:exactMatch UMLS:C2347761 semapv:UnspecifiedMatching MONDO:0044874 refractory cytopenia of childhood skos:exactMatch MEDGEN:417430 semapv:UnspecifiedMatching MONDO:0044874 refractory cytopenia of childhood skos:exactMatch NCIT:C82596 Refractory Cytopenia of Childhood semapv:UnspecifiedMatching MONDO:0044874 refractory cytopenia of childhood skos:exactMatch UMLS:C2826323 semapv:UnspecifiedMatching MONDO:0044874 refractory cytopenia of childhood skos:exactMatch icd11.foundation:699075426 Refractory cytopenia of childhood semapv:UnspecifiedMatching MONDO:0044875 coronary microvascular disorder skos:exactMatch MEDGEN:104771 semapv:UnspecifiedMatching MONDO:0044875 coronary microvascular disorder skos:exactMatch NCIT:C84478 Coronary Microvascular Disease semapv:UnspecifiedMatching MONDO:0044875 coronary microvascular disorder skos:exactMatch UMLS:C0206064 semapv:UnspecifiedMatching MONDO:0044875 coronary microvascular disorder skos:exactMatch icd11.foundation:1752457658 Coronary microvascular disease semapv:UnspecifiedMatching MONDO:0044877 paraneoplastic cerebellar degeneration skos:exactMatch MEDGEN:98273 semapv:UnspecifiedMatching MONDO:0044877 paraneoplastic cerebellar degeneration skos:exactMatch NCIT:C4685 Paraneoplastic Cerebellar Degeneration semapv:UnspecifiedMatching MONDO:0044877 paraneoplastic cerebellar degeneration skos:exactMatch Orphanet:623626 Paraneoplastic cerebellar degeneration semapv:UnspecifiedMatching MONDO:0044877 paraneoplastic cerebellar degeneration skos:exactMatch UMLS:C0393534 semapv:UnspecifiedMatching MONDO:0044877 paraneoplastic cerebellar degeneration skos:exactMatch icd11.foundation:1087616692 Paraneoplastic cerebellar degeneration semapv:UnspecifiedMatching MONDO:0044877 paraneoplastic cerebellar degeneration skos:exactMatch mesh:D020362 semapv:UnspecifiedMatching MONDO:0044878 adult germ cell tumor skos:exactMatch MEDGEN:859695 semapv:UnspecifiedMatching MONDO:0044878 adult germ cell tumor skos:exactMatch NCIT:C114777 Adult Germ Cell Tumor semapv:UnspecifiedMatching MONDO:0044878 adult germ cell tumor skos:exactMatch UMLS:C3900101 semapv:UnspecifiedMatching MONDO:0044879 pancreatic mucinous-cystic neoplasm skos:exactMatch MEDGEN:274120 semapv:UnspecifiedMatching MONDO:0044879 pancreatic mucinous-cystic neoplasm skos:exactMatch NCIT:C41247 Pancreatic Mucinous-Cystic Neoplasm semapv:UnspecifiedMatching MONDO:0044879 pancreatic mucinous-cystic neoplasm skos:exactMatch UMLS:C1518872 semapv:UnspecifiedMatching MONDO:0044880 cystic tumor of the pancreas skos:exactMatch NCIT:C200227 Pancreatic Cystic Neoplasm semapv:UnspecifiedMatching MONDO:0044881 hematopoietic and lymphoid cell neoplasm skos:exactMatch MEDGEN:91264 semapv:UnspecifiedMatching MONDO:0044881 hematopoietic and lymphoid cell neoplasm skos:exactMatch NCIT:C27134 Hematopoietic and Lymphoid Cell Neoplasm semapv:UnspecifiedMatching MONDO:0044881 hematopoietic and lymphoid cell neoplasm skos:exactMatch UMLS:C0376544 semapv:UnspecifiedMatching MONDO:0044884 tonsillar lymphoma skos:exactMatch MEDGEN:234432 semapv:UnspecifiedMatching MONDO:0044884 tonsillar lymphoma skos:exactMatch NCIT:C5918 Tonsillar Lymphoma semapv:UnspecifiedMatching MONDO:0044884 tonsillar lymphoma skos:exactMatch UMLS:C1336765 semapv:UnspecifiedMatching MONDO:0044885 tonsillar lipoma skos:exactMatch MEDGEN:234431 semapv:UnspecifiedMatching MONDO:0044885 tonsillar lipoma skos:exactMatch NCIT:C5989 Tonsillar Lipoma semapv:UnspecifiedMatching MONDO:0044885 tonsillar lipoma skos:exactMatch UMLS:C1336764 semapv:UnspecifiedMatching MONDO:0044887 central nervous system non-hodgkin lymphoma skos:exactMatch MEDGEN:745669 semapv:UnspecifiedMatching MONDO:0044887 central nervous system non-hodgkin lymphoma skos:exactMatch NCIT:C114779 Primary Central Nervous System Non-Hodgkin Lymphoma semapv:UnspecifiedMatching MONDO:0044887 central nervous system non-hodgkin lymphoma skos:exactMatch SCTID:448254007 semapv:UnspecifiedMatching MONDO:0044887 central nervous system non-hodgkin lymphoma skos:exactMatch UMLS:C2213246 semapv:UnspecifiedMatching MONDO:0044889 high grade B-cell lymphoma skos:exactMatch MEDGEN:629622 semapv:UnspecifiedMatching MONDO:0044889 high grade B-cell lymphoma skos:exactMatch NCIT:C138211 High Grade B-Cell Lymphoma semapv:UnspecifiedMatching MONDO:0044889 high grade B-cell lymphoma skos:exactMatch SCTID:277617004 semapv:UnspecifiedMatching MONDO:0044889 high grade B-cell lymphoma skos:exactMatch UMLS:C0456863 semapv:UnspecifiedMatching MONDO:0044903 myelofibrosis skos:exactMatch MEDGEN:10146 semapv:UnspecifiedMatching MONDO:0044903 myelofibrosis skos:exactMatch NCIT:C3248 Myelofibrosis semapv:UnspecifiedMatching MONDO:0044903 myelofibrosis skos:exactMatch UMLS:C0026987 semapv:UnspecifiedMatching MONDO:0044906 bladder urothelial papilloma skos:exactMatch MEDGEN:237227 semapv:UnspecifiedMatching MONDO:0044906 bladder urothelial papilloma skos:exactMatch NCIT:C39858 Bladder Urothelial Papilloma semapv:UnspecifiedMatching MONDO:0044906 bladder urothelial papilloma skos:exactMatch UMLS:C1384678 semapv:UnspecifiedMatching MONDO:0044907 metastatic squamous cell carcinoma skos:exactMatch MEDGEN:90749 semapv:UnspecifiedMatching MONDO:0044907 metastatic squamous cell carcinoma skos:exactMatch NCIT:C4104 Metastatic Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0044907 metastatic squamous cell carcinoma skos:exactMatch SCTID:403906006 semapv:UnspecifiedMatching MONDO:0044907 metastatic squamous cell carcinoma skos:exactMatch UMLS:C0334246 semapv:UnspecifiedMatching MONDO:0044912 metastatic malignant neoplasm in the spinal cord skos:exactMatch MEDGEN:138075 semapv:UnspecifiedMatching MONDO:0044912 metastatic malignant neoplasm in the spinal cord skos:exactMatch NCIT:C4585 Metastatic Malignant Neoplasm in the Spinal Cord semapv:UnspecifiedMatching MONDO:0044912 metastatic malignant neoplasm in the spinal cord skos:exactMatch SCTID:94600009 semapv:UnspecifiedMatching MONDO:0044912 metastatic malignant neoplasm in the spinal cord skos:exactMatch UMLS:C0347016 semapv:UnspecifiedMatching MONDO:0044913 metastatic malignant neoplasm in the eye skos:exactMatch MEDGEN:91115 semapv:UnspecifiedMatching MONDO:0044913 metastatic malignant neoplasm in the eye skos:exactMatch NCIT:C4586 Metastatic Malignant Neoplasm in the Eye semapv:UnspecifiedMatching MONDO:0044913 metastatic malignant neoplasm in the eye skos:exactMatch SCTID:94292003 semapv:UnspecifiedMatching MONDO:0044913 metastatic malignant neoplasm in the eye skos:exactMatch UMLS:C0347019 semapv:UnspecifiedMatching MONDO:0044915 salivary duct carcinoma skos:exactMatch MEDGEN:220969 semapv:UnspecifiedMatching MONDO:0044915 salivary duct carcinoma skos:exactMatch NCIT:C5904 Salivary Duct Carcinoma semapv:UnspecifiedMatching MONDO:0044915 salivary duct carcinoma skos:exactMatch UMLS:C1301194 semapv:UnspecifiedMatching MONDO:0044916 extrarenal rhabdoid tumor skos:exactMatch MEDGEN:224918 semapv:UnspecifiedMatching MONDO:0044916 extrarenal rhabdoid tumor skos:exactMatch NCIT:C6586 Extrarenal Rhabdoid Tumor semapv:UnspecifiedMatching MONDO:0044916 extrarenal rhabdoid tumor skos:exactMatch SCTID:404089007 semapv:UnspecifiedMatching MONDO:0044916 extrarenal rhabdoid tumor skos:exactMatch UMLS:C1304517 semapv:UnspecifiedMatching MONDO:0044917 T-lymphoblastic lymphoma skos:exactMatch MEDGEN:266232 semapv:UnspecifiedMatching MONDO:0044917 T-lymphoblastic lymphoma skos:exactMatch NCIT:C6919 T Lymphoblastic Lymphoma semapv:UnspecifiedMatching MONDO:0044917 T-lymphoblastic lymphoma skos:exactMatch SCTID:421246008 semapv:UnspecifiedMatching MONDO:0044917 T-lymphoblastic lymphoma skos:exactMatch UMLS:C1292758 semapv:UnspecifiedMatching MONDO:0044919 malignant renal pelvis neoplasm skos:exactMatch MEDGEN:57793 semapv:UnspecifiedMatching MONDO:0044919 malignant renal pelvis neoplasm skos:exactMatch NCIT:C7525 Malignant Renal Pelvis Neoplasm semapv:UnspecifiedMatching MONDO:0044919 malignant renal pelvis neoplasm skos:exactMatch UMLS:C0153618 semapv:UnspecifiedMatching MONDO:0044921 atypical lymphoproliferative disorder skos:exactMatch MEDGEN:75775 semapv:UnspecifiedMatching MONDO:0044921 atypical lymphoproliferative disorder skos:exactMatch NCIT:C7764 Atypical Lymphoproliferative Disorder semapv:UnspecifiedMatching MONDO:0044921 atypical lymphoproliferative disorder skos:exactMatch SCTID:20991001 semapv:UnspecifiedMatching MONDO:0044921 atypical lymphoproliferative disorder skos:exactMatch UMLS:C0272217 semapv:UnspecifiedMatching MONDO:0044923 acute myeloid leukemia with mutated NPM1 skos:exactMatch DOID:0081089 acute myeloid leukemia with mutated NPM1 semapv:UnspecifiedMatching MONDO:0044923 acute myeloid leukemia with mutated NPM1 skos:exactMatch MEDGEN:414842 semapv:UnspecifiedMatching MONDO:0044923 acute myeloid leukemia with mutated NPM1 skos:exactMatch NCIT:C82431 Acute Myeloid Leukemia with NPM1 Mutation semapv:UnspecifiedMatching MONDO:0044923 acute myeloid leukemia with mutated NPM1 skos:exactMatch UMLS:C2826177 semapv:UnspecifiedMatching MONDO:0044925 oral cavity carcinoma skos:exactMatch MEDGEN:57468 semapv:UnspecifiedMatching MONDO:0044925 oral cavity carcinoma skos:exactMatch NCIT:C8990 Oral Cavity Carcinoma semapv:UnspecifiedMatching MONDO:0044925 oral cavity carcinoma skos:exactMatch UMLS:C0151546 semapv:UnspecifiedMatching MONDO:0044926 oropharyngeal carcinoma skos:exactMatch MEDGEN:379086 semapv:UnspecifiedMatching MONDO:0044926 oropharyngeal carcinoma skos:exactMatch NCIT:C9105 Oropharyngeal Carcinoma semapv:UnspecifiedMatching MONDO:0044926 oropharyngeal carcinoma skos:exactMatch UMLS:C2349952 semapv:UnspecifiedMatching MONDO:0044937 rectal carcinoma skos:exactMatch MEDGEN:40100 semapv:UnspecifiedMatching MONDO:0044937 rectal carcinoma skos:exactMatch NCIT:C9382 Rectal Carcinoma semapv:UnspecifiedMatching MONDO:0044937 rectal carcinoma skos:exactMatch UMLS:C0007113 semapv:UnspecifiedMatching MONDO:0044956 paranasal sinus mucoepidermoid carcinoma skos:exactMatch MEDGEN:235461 semapv:UnspecifiedMatching MONDO:0044956 paranasal sinus mucoepidermoid carcinoma skos:exactMatch NCIT:C6018 Paranasal Sinus Mucoepidermoid Carcinoma semapv:UnspecifiedMatching MONDO:0044956 paranasal sinus mucoepidermoid carcinoma skos:exactMatch UMLS:C1335340 semapv:UnspecifiedMatching MONDO:0044964 oral cavity mucoepidermoid carcinoma skos:exactMatch MEDGEN:83629 semapv:UnspecifiedMatching MONDO:0044964 oral cavity mucoepidermoid carcinoma skos:exactMatch NCIT:C8177 Oral Cavity Mucoepidermoid Carcinoma semapv:UnspecifiedMatching MONDO:0044964 oral cavity mucoepidermoid carcinoma skos:exactMatch UMLS:C0280309 semapv:UnspecifiedMatching MONDO:0044965 obsolete abdominal and pelvic region disorder skos:exactMatch SCTID:609618002 semapv:UnspecifiedMatching MONDO:0044967 obsolete limb disorder skos:exactMatch SCTID:128605003 semapv:UnspecifiedMatching MONDO:0044970 mitochondrial disease skos:exactMatch MEDGEN:155901 semapv:UnspecifiedMatching MONDO:0044970 mitochondrial disease skos:exactMatch UMLS:C0751651 semapv:UnspecifiedMatching MONDO:0044972 eosinophil disorder skos:exactMatch MEDGEN:739396 semapv:UnspecifiedMatching MONDO:0044972 eosinophil disorder skos:exactMatch SCTID:417967008 semapv:UnspecifiedMatching MONDO:0044972 eosinophil disorder skos:exactMatch UMLS:C1691020 semapv:UnspecifiedMatching MONDO:0044976 obsolete disease of catalytic activity skos:exactMatch SCTID:78548001 semapv:UnspecifiedMatching MONDO:0044981 pseudoallergy skos:exactMatch MEDGEN:783416 semapv:UnspecifiedMatching MONDO:0044981 pseudoallergy skos:exactMatch SCTID:609397002 semapv:UnspecifiedMatching MONDO:0044981 pseudoallergy skos:exactMatch UMLS:C3662262 semapv:UnspecifiedMatching MONDO:0044982 drug pseudoallergy skos:exactMatch MEDGEN:783426 semapv:UnspecifiedMatching MONDO:0044982 drug pseudoallergy skos:exactMatch SCTID:609398007 semapv:UnspecifiedMatching MONDO:0044982 drug pseudoallergy skos:exactMatch UMLS:C3662272 semapv:UnspecifiedMatching MONDO:0044983 benign lipomatous neoplasm skos:exactMatch ICD10CM:D17 Benign lipomatous neoplasm semapv:UnspecifiedMatching MONDO:0044983 benign lipomatous neoplasm skos:exactMatch ICD10WHO:D17 Benign lipomatous neoplasm semapv:UnspecifiedMatching MONDO:0044983 benign lipomatous neoplasm skos:exactMatch MEDGEN:91084 semapv:UnspecifiedMatching MONDO:0044983 benign lipomatous neoplasm skos:exactMatch NCIT:C4502 Benign Lipomatous Neoplasm semapv:UnspecifiedMatching MONDO:0044983 benign lipomatous neoplasm skos:exactMatch UMLS:C0346118 semapv:UnspecifiedMatching MONDO:0044983 benign lipomatous neoplasm skos:exactMatch icd11.foundation:226447034 Benign lipomatous neoplasm semapv:UnspecifiedMatching MONDO:0044984 nasolacrimal duct disorder skos:exactMatch MEDGEN:636806 semapv:UnspecifiedMatching MONDO:0044984 nasolacrimal duct disorder skos:exactMatch SCTID:95767006 semapv:UnspecifiedMatching MONDO:0044984 nasolacrimal duct disorder skos:exactMatch UMLS:C0521744 semapv:UnspecifiedMatching MONDO:0044986 lymphoid system disorder skos:exactMatch MEDGEN:9829 semapv:UnspecifiedMatching MONDO:0044986 lymphoid system disorder skos:exactMatch SCTID:111590001 semapv:UnspecifiedMatching MONDO:0044986 lymphoid system disorder skos:exactMatch UMLS:C0024228 semapv:UnspecifiedMatching MONDO:0044987 obsolete face disorder skos:exactMatch SCTID:118930001 semapv:UnspecifiedMatching MONDO:0044988 obsolete hip region disorder skos:exactMatch SCTID:118935006 semapv:UnspecifiedMatching MONDO:0044989 obsolete foot disorder skos:exactMatch SCTID:118932009 semapv:UnspecifiedMatching MONDO:0044989 obsolete foot disorder skos:exactMatch mesh:D005534 semapv:UnspecifiedMatching MONDO:0044990 obsolete hand disorder skos:exactMatch SCTID:118933004 semapv:UnspecifiedMatching MONDO:0044991 upper digestive tract disorder skos:exactMatch MEDGEN:712971 semapv:UnspecifiedMatching MONDO:0044991 upper digestive tract disorder skos:exactMatch SCTID:119291004 semapv:UnspecifiedMatching MONDO:0044991 upper digestive tract disorder skos:exactMatch UMLS:C1290613 semapv:UnspecifiedMatching MONDO:0044992 mouth mucosa disorder skos:exactMatch MEDGEN:712457 semapv:UnspecifiedMatching MONDO:0044992 mouth mucosa disorder skos:exactMatch SCTID:128046007 semapv:UnspecifiedMatching MONDO:0044992 mouth mucosa disorder skos:exactMatch UMLS:C1290071 semapv:UnspecifiedMatching MONDO:0044993 sympathetic nervous system disorder skos:exactMatch MEDGEN:148206 semapv:UnspecifiedMatching MONDO:0044993 sympathetic nervous system disorder skos:exactMatch SCTID:50330009 semapv:UnspecifiedMatching MONDO:0044993 sympathetic nervous system disorder skos:exactMatch UMLS:C0750946 semapv:UnspecifiedMatching MONDO:0044995 parasympathetic nervous system disorder skos:exactMatch MEDGEN:148205 semapv:UnspecifiedMatching MONDO:0044995 parasympathetic nervous system disorder skos:exactMatch SCTID:46091002 semapv:UnspecifiedMatching MONDO:0044995 parasympathetic nervous system disorder skos:exactMatch UMLS:C0750945 semapv:UnspecifiedMatching MONDO:0044996 cerebral cortex disorder skos:exactMatch MEDGEN:688117 semapv:UnspecifiedMatching MONDO:0044996 cerebral cortex disorder skos:exactMatch SCTID:128128003 semapv:UnspecifiedMatching MONDO:0044996 cerebral cortex disorder skos:exactMatch UMLS:C1263847 semapv:UnspecifiedMatching MONDO:0044997 midbrain disorder skos:exactMatch MEDGEN:636737 semapv:UnspecifiedMatching MONDO:0044997 midbrain disorder skos:exactMatch SCTID:95641009 semapv:UnspecifiedMatching MONDO:0044997 midbrain disorder skos:exactMatch UMLS:C0521655 semapv:UnspecifiedMatching MONDO:0044998 obsolete carpal region disorder skos:exactMatch SCTID:128130001 semapv:UnspecifiedMatching MONDO:0044999 obsolete scalp disorder skos:exactMatch SCTID:238922006 semapv:UnspecifiedMatching MONDO:0045001 cardiac ventricle disorder skos:exactMatch MEDGEN:736361 semapv:UnspecifiedMatching MONDO:0045001 cardiac ventricle disorder skos:exactMatch SCTID:415991003 semapv:UnspecifiedMatching MONDO:0045001 cardiac ventricle disorder skos:exactMatch UMLS:C1562298 semapv:UnspecifiedMatching MONDO:0045002 vertebral disorder skos:exactMatch MEDGEN:747221 semapv:UnspecifiedMatching MONDO:0045002 vertebral disorder skos:exactMatch SCTID:430886005 semapv:UnspecifiedMatching MONDO:0045002 vertebral disorder skos:exactMatch UMLS:C2316319 semapv:UnspecifiedMatching MONDO:0045003 scrotal disorder skos:exactMatch MEDGEN:541586 semapv:UnspecifiedMatching MONDO:0045003 scrotal disorder skos:exactMatch SCTID:49701002 semapv:UnspecifiedMatching MONDO:0045003 scrotal disorder skos:exactMatch UMLS:C0268919 semapv:UnspecifiedMatching MONDO:0045008 cholesterol metabolism disease skos:exactMatch MEDGEN:575263 semapv:UnspecifiedMatching MONDO:0045008 cholesterol metabolism disease skos:exactMatch SCTID:123963007 semapv:UnspecifiedMatching MONDO:0045008 cholesterol metabolism disease skos:exactMatch UMLS:C0342877 semapv:UnspecifiedMatching MONDO:0045010 glycoprotein metabolism disease skos:exactMatch MEDGEN:575248 semapv:UnspecifiedMatching MONDO:0045010 glycoprotein metabolism disease skos:exactMatch SCTID:238045003 semapv:UnspecifiedMatching MONDO:0045010 glycoprotein metabolism disease skos:exactMatch UMLS:C0342844 semapv:UnspecifiedMatching MONDO:0045011 keratinization disease skos:exactMatch MEDGEN:635020 semapv:UnspecifiedMatching MONDO:0045011 keratinization disease skos:exactMatch SCTID:277905003 semapv:UnspecifiedMatching MONDO:0045011 keratinization disease skos:exactMatch UMLS:C0475811 semapv:UnspecifiedMatching MONDO:0045012 steroid metabolism disease skos:exactMatch MEDGEN:541265 semapv:UnspecifiedMatching MONDO:0045012 steroid metabolism disease skos:exactMatch SCTID:28710006 semapv:UnspecifiedMatching MONDO:0045012 steroid metabolism disease skos:exactMatch UMLS:C0268283 semapv:UnspecifiedMatching MONDO:0045013 disorder of extraembryonic membrane skos:exactMatch MEDGEN:783294 semapv:UnspecifiedMatching MONDO:0045013 disorder of extraembryonic membrane skos:exactMatch SCTID:609522002 semapv:UnspecifiedMatching MONDO:0045013 disorder of extraembryonic membrane skos:exactMatch UMLS:C3662139 semapv:UnspecifiedMatching MONDO:0045014 tetrahydrobiopterin metabolic process disease skos:exactMatch MEDGEN:575174 semapv:UnspecifiedMatching MONDO:0045014 tetrahydrobiopterin metabolic process disease skos:exactMatch SCTID:237913008 semapv:UnspecifiedMatching MONDO:0045014 tetrahydrobiopterin metabolic process disease skos:exactMatch UMLS:C0342676 semapv:UnspecifiedMatching MONDO:0045015 carbohydrate transport disease skos:exactMatch MEDGEN:541226 semapv:UnspecifiedMatching MONDO:0045015 carbohydrate transport disease skos:exactMatch SCTID:54905006 semapv:UnspecifiedMatching MONDO:0045015 carbohydrate transport disease skos:exactMatch UMLS:C0268173 semapv:UnspecifiedMatching MONDO:0045016 cholesterol catabolic process disease skos:exactMatch MEDGEN:575238 semapv:UnspecifiedMatching MONDO:0045016 cholesterol catabolic process disease skos:exactMatch SCTID:238032002 semapv:UnspecifiedMatching MONDO:0045016 cholesterol catabolic process disease skos:exactMatch UMLS:C0342825 semapv:UnspecifiedMatching MONDO:0045017 cholesterol biosynthetic process disease skos:exactMatch MEDGEN:575241 semapv:UnspecifiedMatching MONDO:0045017 cholesterol biosynthetic process disease skos:exactMatch SCTID:238036004 semapv:UnspecifiedMatching MONDO:0045017 cholesterol biosynthetic process disease skos:exactMatch UMLS:C0342829 semapv:UnspecifiedMatching MONDO:0045018 creatine biosynthetic process disease skos:exactMatch MEDGEN:657799 semapv:UnspecifiedMatching MONDO:0045018 creatine biosynthetic process disease skos:exactMatch SCTID:297226004 semapv:UnspecifiedMatching MONDO:0045018 creatine biosynthetic process disease skos:exactMatch UMLS:C0574079 semapv:UnspecifiedMatching MONDO:0045019 lactation disease skos:exactMatch MEDGEN:5997 semapv:UnspecifiedMatching MONDO:0045019 lactation disease skos:exactMatch SCTID:35046003 semapv:UnspecifiedMatching MONDO:0045019 lactation disease skos:exactMatch UMLS:C0022927 semapv:UnspecifiedMatching MONDO:0045020 glycine metabolism disease skos:exactMatch MEDGEN:541361 semapv:UnspecifiedMatching MONDO:0045020 glycine metabolism disease skos:exactMatch SCTID:83076007 semapv:UnspecifiedMatching MONDO:0045020 glycine metabolism disease skos:exactMatch UMLS:C0268558 semapv:UnspecifiedMatching MONDO:0045021 obsolete sucrose intolerance disease skos:exactMatch SCTID:190753003 semapv:UnspecifiedMatching MONDO:0045022 disorder of organic acid metabolism skos:exactMatch MEDGEN:468982 semapv:UnspecifiedMatching MONDO:0045022 disorder of organic acid metabolism skos:exactMatch SCTID:116021002 semapv:UnspecifiedMatching MONDO:0045022 disorder of organic acid metabolism skos:exactMatch UMLS:C1263739 semapv:UnspecifiedMatching MONDO:0045023 acquired adrenogenital syndrome skos:exactMatch MEDGEN:536747 semapv:UnspecifiedMatching MONDO:0045023 acquired adrenogenital syndrome skos:exactMatch SCTID:190512008 semapv:UnspecifiedMatching MONDO:0045023 acquired adrenogenital syndrome skos:exactMatch UMLS:C0237971 semapv:UnspecifiedMatching MONDO:0045023 acquired adrenogenital syndrome skos:exactMatch icd11.foundation:1228689964 Acquired adrenogenital syndrome semapv:UnspecifiedMatching MONDO:0045029 obsolete Deuteromycetes infectious disease skos:exactMatch SCTID:59258008 semapv:UnspecifiedMatching MONDO:0045030 non-infectious diarrheal disease skos:exactMatch MEDGEN:540680 semapv:UnspecifiedMatching MONDO:0045030 non-infectious diarrheal disease skos:exactMatch SCTID:69980003 semapv:UnspecifiedMatching MONDO:0045030 non-infectious diarrheal disease skos:exactMatch UMLS:C0267436 semapv:UnspecifiedMatching MONDO:0045032 congenital secretory diarrhea skos:exactMatch MEDGEN:82757 semapv:UnspecifiedMatching MONDO:0045032 congenital secretory diarrhea skos:exactMatch SCTID:25898005 semapv:UnspecifiedMatching MONDO:0045032 congenital secretory diarrhea skos:exactMatch UMLS:C0267661 semapv:UnspecifiedMatching MONDO:0045037 hyalohyphomycosis skos:exactMatch MEDGEN:452455 semapv:UnspecifiedMatching MONDO:0045037 hyalohyphomycosis skos:exactMatch SCTID:240773008 semapv:UnspecifiedMatching MONDO:0045037 hyalohyphomycosis skos:exactMatch UMLS:C0343952 semapv:UnspecifiedMatching MONDO:0045037 hyalohyphomycosis skos:exactMatch mesh:D060605 semapv:UnspecifiedMatching MONDO:0045038 cutaneous basidiobolomycosis skos:exactMatch MEDGEN:575967 semapv:UnspecifiedMatching MONDO:0045038 cutaneous basidiobolomycosis skos:exactMatch SCTID:240786004 semapv:UnspecifiedMatching MONDO:0045038 cutaneous basidiobolomycosis skos:exactMatch UMLS:C0343966 semapv:UnspecifiedMatching MONDO:0045039 systemic basidiobolomycosis skos:exactMatch MEDGEN:575968 semapv:UnspecifiedMatching MONDO:0045039 systemic basidiobolomycosis skos:exactMatch SCTID:240787008 semapv:UnspecifiedMatching MONDO:0045039 systemic basidiobolomycosis skos:exactMatch UMLS:C0343967 semapv:UnspecifiedMatching MONDO:0045042 restricted to specific location skos:exactMatch MEDGEN:98236 semapv:UnspecifiedMatching MONDO:0045042 restricted to specific location skos:exactMatch UMLS:C0392752 semapv:UnspecifiedMatching MONDO:0045043 disorder of uterine broad ligament skos:exactMatch MEDGEN:589074 semapv:UnspecifiedMatching MONDO:0045043 disorder of uterine broad ligament skos:exactMatch SCTID:237062006 semapv:UnspecifiedMatching MONDO:0045043 disorder of uterine broad ligament skos:exactMatch UMLS:C0404479 semapv:UnspecifiedMatching MONDO:0045044 ligament disorder skos:exactMatch MEDGEN:538235 semapv:UnspecifiedMatching MONDO:0045044 ligament disorder skos:exactMatch SCTID:60492000 semapv:UnspecifiedMatching MONDO:0045044 ligament disorder skos:exactMatch UMLS:C0263976 semapv:UnspecifiedMatching MONDO:0045045 selective IgG immunodeficiency skos:exactMatch MEDGEN:1618515 semapv:UnspecifiedMatching MONDO:0045045 selective IgG immunodeficiency skos:exactMatch NCIT:C27142 Selective IgG Immunodeficiency semapv:UnspecifiedMatching MONDO:0045045 selective IgG immunodeficiency skos:exactMatch SCTID:12631000119106 semapv:UnspecifiedMatching MONDO:0045045 selective IgG immunodeficiency skos:exactMatch UMLS:C4520847 semapv:UnspecifiedMatching MONDO:0045046 inherited thyroid metabolism disease skos:exactMatch MEDGEN:543589 semapv:UnspecifiedMatching MONDO:0045046 inherited thyroid metabolism disease skos:exactMatch SCTID:36985004 semapv:UnspecifiedMatching MONDO:0045046 inherited thyroid metabolism disease skos:exactMatch UMLS:C0271824 semapv:UnspecifiedMatching MONDO:0045047 neurosarcoidosis skos:exactMatch MEDGEN:97948 semapv:UnspecifiedMatching MONDO:0045047 neurosarcoidosis skos:exactMatch SCTID:230193008 semapv:UnspecifiedMatching MONDO:0045047 neurosarcoidosis skos:exactMatch UMLS:C0393485 semapv:UnspecifiedMatching MONDO:0045047 neurosarcoidosis skos:exactMatch icd11.foundation:1479285656 Neurosarcoidosis semapv:UnspecifiedMatching MONDO:0045047 neurosarcoidosis skos:exactMatch mesh:C535814 semapv:UnspecifiedMatching MONDO:0045048 toxemia of pregnancy skos:exactMatch MEDGEN:1638686 semapv:UnspecifiedMatching MONDO:0045048 toxemia of pregnancy skos:exactMatch NCIT:C34943 Toxemia of Pregnancy semapv:UnspecifiedMatching MONDO:0045048 toxemia of pregnancy skos:exactMatch UMLS:C4551893 semapv:UnspecifiedMatching MONDO:0045049 hypermature cataract skos:exactMatch SCTID:267626000 semapv:UnspecifiedMatching MONDO:0045050 nuclear cataract skos:exactMatch MEDGEN:140274 semapv:UnspecifiedMatching MONDO:0045050 nuclear cataract skos:exactMatch NCIT:C135176 Nuclear Cataract semapv:UnspecifiedMatching MONDO:0045050 nuclear cataract skos:exactMatch SCTID:53889007 semapv:UnspecifiedMatching MONDO:0045050 nuclear cataract skos:exactMatch UMLS:C0392557 semapv:UnspecifiedMatching MONDO:0045050 nuclear cataract skos:exactMatch icd11.foundation:2020818341 Nuclear cataract semapv:UnspecifiedMatching MONDO:0045051 cortical cataract skos:exactMatch MEDGEN:82868 semapv:UnspecifiedMatching MONDO:0045051 cortical cataract skos:exactMatch NCIT:C135177 Cortical Cataract semapv:UnspecifiedMatching MONDO:0045051 cortical cataract skos:exactMatch SCTID:193576003 semapv:UnspecifiedMatching MONDO:0045051 cortical cataract skos:exactMatch UMLS:C0271160 semapv:UnspecifiedMatching MONDO:0045051 cortical cataract skos:exactMatch icd11.foundation:1118806999 Cortical cataract semapv:UnspecifiedMatching MONDO:0045052 benign osteogenic neoplasm skos:exactMatch MEDGEN:231943 semapv:UnspecifiedMatching MONDO:0045052 benign osteogenic neoplasm skos:exactMatch NCIT:C6602 Benign Osteogenic Neoplasm semapv:UnspecifiedMatching MONDO:0045052 benign osteogenic neoplasm skos:exactMatch UMLS:C1332523 semapv:UnspecifiedMatching MONDO:0045053 osteogenic neoplasm skos:exactMatch MEDGEN:277453 semapv:UnspecifiedMatching MONDO:0045053 osteogenic neoplasm skos:exactMatch NCIT:C6603 Osteogenic Neoplasm semapv:UnspecifiedMatching MONDO:0045053 osteogenic neoplasm skos:exactMatch UMLS:C1335146 semapv:UnspecifiedMatching MONDO:0045054 cancer-related condition skos:exactMatch MEDGEN:128925 semapv:UnspecifiedMatching MONDO:0045054 cancer-related condition skos:exactMatch NCIT:C8278 Cancer-Related Condition semapv:UnspecifiedMatching MONDO:0045054 cancer-related condition skos:exactMatch UMLS:C0280950 semapv:UnspecifiedMatching MONDO:0045055 glycogen-rich carcinoma skos:exactMatch DOID:0081028 glycogen-rich carcinoma semapv:UnspecifiedMatching MONDO:0045055 glycogen-rich carcinoma skos:exactMatch MEDGEN:83127 semapv:UnspecifiedMatching MONDO:0045055 glycogen-rich carcinoma skos:exactMatch NCIT:C4153 Glycogen-Rich Carcinoma semapv:UnspecifiedMatching MONDO:0045055 glycogen-rich carcinoma skos:exactMatch UMLS:C0334319 semapv:UnspecifiedMatching MONDO:0045056 grade II meningioma skos:exactMatch MEDGEN:307517 semapv:UnspecifiedMatching MONDO:0045056 grade II meningioma skos:exactMatch NCIT:C38937 Grade 2 Meningioma semapv:UnspecifiedMatching MONDO:0045056 grade II meningioma skos:exactMatch UMLS:C1512259 semapv:UnspecifiedMatching MONDO:0045057 delirium skos:exactMatch EFO:0009267 semapv:UnspecifiedMatching MONDO:0045057 delirium skos:exactMatch MEDGEN:41445 semapv:UnspecifiedMatching MONDO:0045057 delirium skos:exactMatch NCIT:C2981 Delirium semapv:UnspecifiedMatching MONDO:0045057 delirium skos:exactMatch SCTID:2776000 semapv:UnspecifiedMatching MONDO:0045057 delirium skos:exactMatch UMLS:C0011206 semapv:UnspecifiedMatching MONDO:0045057 delirium skos:exactMatch icd11.foundation:897917531 Delirium semapv:UnspecifiedMatching MONDO:0045057 delirium skos:exactMatch mesh:D003693 semapv:UnspecifiedMatching MONDO:0045058 ACTH-producing pituitary gland neoplasm skos:exactMatch MEDGEN:82997 semapv:UnspecifiedMatching MONDO:0045058 ACTH-producing pituitary gland neoplasm skos:exactMatch UMLS:C0278862 semapv:UnspecifiedMatching MONDO:0045059 cribriform carcinoma of breast skos:exactMatch DOID:5675 cribriform carcinoma semapv:UnspecifiedMatching MONDO:0045059 cribriform carcinoma of breast skos:exactMatch MEDGEN:1843502 semapv:UnspecifiedMatching MONDO:0045059 cribriform carcinoma of breast skos:exactMatch UMLS:C2138440 semapv:UnspecifiedMatching MONDO:0045059 cribriform carcinoma of breast skos:exactMatch icd11.foundation:1025219649 Cribriform carcinoma of breast semapv:UnspecifiedMatching MONDO:0045060 intraductal cribriform breast adenocarcinoma skos:exactMatch MEDGEN:233570 semapv:UnspecifiedMatching MONDO:0045060 intraductal cribriform breast adenocarcinoma skos:exactMatch NCIT:C5138 Breast Ductal Carcinoma In Situ, Cribriform Pattern semapv:UnspecifiedMatching MONDO:0045060 intraductal cribriform breast adenocarcinoma skos:exactMatch UMLS:C1334248 semapv:UnspecifiedMatching MONDO:0045063 major salivary gland adenoid cystic carcinoma skos:exactMatch MEDGEN:235286 semapv:UnspecifiedMatching MONDO:0045063 major salivary gland adenoid cystic carcinoma skos:exactMatch NCIT:C5905 Major Salivary Gland Adenoid Cystic Carcinoma semapv:UnspecifiedMatching MONDO:0045063 major salivary gland adenoid cystic carcinoma skos:exactMatch UMLS:C1334548 semapv:UnspecifiedMatching MONDO:0045068 minor salivary gland adenoid cystic carcinoma skos:exactMatch MEDGEN:233709 semapv:UnspecifiedMatching MONDO:0045068 minor salivary gland adenoid cystic carcinoma skos:exactMatch NCIT:C5936 Minor Salivary Gland Adenoid Cystic Carcinoma semapv:UnspecifiedMatching MONDO:0045068 minor salivary gland adenoid cystic carcinoma skos:exactMatch UMLS:C1334769 semapv:UnspecifiedMatching MONDO:0045069 minor salivary gland carcinoma skos:exactMatch MEDGEN:233710 semapv:UnspecifiedMatching MONDO:0045069 minor salivary gland carcinoma skos:exactMatch NCIT:C5957 Minor Salivary Gland Carcinoma semapv:UnspecifiedMatching MONDO:0045069 minor salivary gland carcinoma skos:exactMatch UMLS:C1334771 semapv:UnspecifiedMatching MONDO:0045070 digestive system melanoma skos:exactMatch MEDGEN:234305 semapv:UnspecifiedMatching MONDO:0045070 digestive system melanoma skos:exactMatch NCIT:C7091 Digestive System Mucosal Melanoma semapv:UnspecifiedMatching MONDO:0045070 digestive system melanoma skos:exactMatch UMLS:C1333798 semapv:UnspecifiedMatching MONDO:0045071 mycosis fungoides variant skos:exactMatch MEDGEN:271222 semapv:UnspecifiedMatching MONDO:0045071 mycosis fungoides variant skos:exactMatch NCIT:C39644 Mycosis Fungoides Variant semapv:UnspecifiedMatching MONDO:0045071 mycosis fungoides variant skos:exactMatch UMLS:C1513782 semapv:UnspecifiedMatching MONDO:0045072 ectopic hormone secretion syndrome associated with neoplasia skos:exactMatch MEDGEN:208863 semapv:UnspecifiedMatching MONDO:0045072 ectopic hormone secretion syndrome associated with neoplasia skos:exactMatch NCIT:C4065 Ectopic Hormone Secretion Syndrome Associated with Neoplasia semapv:UnspecifiedMatching MONDO:0045072 ectopic hormone secretion syndrome associated with neoplasia skos:exactMatch UMLS:C0851689 semapv:UnspecifiedMatching MONDO:0049221 myopia 26, X-linked, female-limited skos:exactMatch MEDGEN:1618364 semapv:UnspecifiedMatching MONDO:0049221 myopia 26, X-linked, female-limited skos:exactMatch OMIM:301010 myopia 26, x-linked, female-limited semapv:UnspecifiedMatching MONDO:0049221 myopia 26, X-linked, female-limited skos:exactMatch UMLS:C4538795 semapv:UnspecifiedMatching MONDO:0049222 intellectual disability, X-linked 107 skos:exactMatch DOID:0112054 non-syndromic X-linked intellectual disability 107 semapv:UnspecifiedMatching MONDO:0049222 intellectual disability, X-linked 107 skos:exactMatch MEDGEN:1639885 semapv:UnspecifiedMatching MONDO:0049222 intellectual disability, X-linked 107 skos:exactMatch OMIM:301013 intellectual developmental disorder, X-linked 107 semapv:UnspecifiedMatching MONDO:0049222 intellectual disability, X-linked 107 skos:exactMatch UMLS:C4692652 semapv:UnspecifiedMatching MONDO:0049223 osteogenesis imperfecta, type 19 skos:exactMatch DOID:0111847 osteogenesis imperfecta type 19 semapv:UnspecifiedMatching MONDO:0049223 osteogenesis imperfecta, type 19 skos:exactMatch MEDGEN:1648353 semapv:UnspecifiedMatching MONDO:0049223 osteogenesis imperfecta, type 19 skos:exactMatch OMIM:301014 osteogenesis imperfecta, type 19 semapv:UnspecifiedMatching MONDO:0049223 osteogenesis imperfecta, type 19 skos:exactMatch UMLS:C4746956 semapv:UnspecifiedMatching MONDO:0054549 peroxisome biogenesis disorder 10B skos:exactMatch DOID:0081440 Peroxisome biogenesis disorder 10B semapv:UnspecifiedMatching MONDO:0054549 peroxisome biogenesis disorder 10B skos:exactMatch MEDGEN:1379481 semapv:UnspecifiedMatching MONDO:0054549 peroxisome biogenesis disorder 10B skos:exactMatch OMIM:617370 peroxisome biogenesis disorder 10b semapv:UnspecifiedMatching MONDO:0054549 peroxisome biogenesis disorder 10B skos:exactMatch UMLS:C4479254 semapv:UnspecifiedMatching MONDO:0054550 avascular necrosis of femoral head, primary, 1 skos:exactMatch MEDGEN:1639295 semapv:UnspecifiedMatching MONDO:0054550 avascular necrosis of femoral head, primary, 1 skos:exactMatch OMIM:608805 avascular necrosis of femoral head, primary, 1 semapv:UnspecifiedMatching MONDO:0054550 avascular necrosis of femoral head, primary, 1 skos:exactMatch UMLS:C4551562 semapv:UnspecifiedMatching MONDO:0054551 avascular necrosis of femoral head, primary, 2 skos:exactMatch MEDGEN:1386338 semapv:UnspecifiedMatching MONDO:0054551 avascular necrosis of femoral head, primary, 2 skos:exactMatch OMIM:617383 avascular necrosis of femoral head, primary, 2 semapv:UnspecifiedMatching MONDO:0054551 avascular necrosis of femoral head, primary, 2 skos:exactMatch UMLS:C4479260 semapv:UnspecifiedMatching MONDO:0054559 congenital disorder of glycosylation, type IIq skos:exactMatch DOID:0070269 congenital disorder of glycosylation type IIq semapv:UnspecifiedMatching MONDO:0054559 congenital disorder of glycosylation, type IIq skos:exactMatch MEDGEN:1390458 semapv:UnspecifiedMatching MONDO:0054559 congenital disorder of glycosylation, type IIq skos:exactMatch OMIM:617395 congenital disorder of glycosylation, type iiq semapv:UnspecifiedMatching MONDO:0054559 congenital disorder of glycosylation, type IIq skos:exactMatch Orphanet:435934 COG2-CDG semapv:UnspecifiedMatching MONDO:0054559 congenital disorder of glycosylation, type IIq skos:exactMatch UMLS:C4479353 semapv:UnspecifiedMatching MONDO:0054560 anauxetic dysplasia 1 skos:exactMatch DOID:0050640 anauxetic dysplasia 1 semapv:UnspecifiedMatching MONDO:0054560 anauxetic dysplasia 1 skos:exactMatch MEDGEN:1638106 semapv:UnspecifiedMatching MONDO:0054560 anauxetic dysplasia 1 skos:exactMatch OMIM:607095 anauxetic dysplasia 1 semapv:UnspecifiedMatching MONDO:0054560 anauxetic dysplasia 1 skos:exactMatch UMLS:C4551965 semapv:UnspecifiedMatching MONDO:0054561 anauxetic dysplasia 2 skos:exactMatch DOID:0080962 anauxetic dysplasia 2 semapv:UnspecifiedMatching MONDO:0054561 anauxetic dysplasia 2 skos:exactMatch MEDGEN:1384439 semapv:UnspecifiedMatching MONDO:0054561 anauxetic dysplasia 2 skos:exactMatch OMIM:617396 anauxetic dysplasia 2 semapv:UnspecifiedMatching MONDO:0054561 anauxetic dysplasia 2 skos:exactMatch UMLS:C4479357 semapv:UnspecifiedMatching MONDO:0054565 short-rib thoracic dysplasia 17 with or without polydactyly skos:exactMatch MEDGEN:1372794 semapv:UnspecifiedMatching MONDO:0054565 short-rib thoracic dysplasia 17 with or without polydactyly skos:exactMatch OMIM:617405 short-rib thoracic dysplasia 17 with or without polydactyly semapv:UnspecifiedMatching MONDO:0054565 short-rib thoracic dysplasia 17 with or without polydactyly skos:exactMatch UMLS:C4479416 semapv:UnspecifiedMatching MONDO:0054573 Lopes-Maciel-Rodan syndrome skos:exactMatch EFO:0009904 semapv:UnspecifiedMatching MONDO:0054573 Lopes-Maciel-Rodan syndrome skos:exactMatch MEDGEN:1379711 semapv:UnspecifiedMatching MONDO:0054573 Lopes-Maciel-Rodan syndrome skos:exactMatch OMIM:617435 lopes-maciel-rodan syndrome semapv:UnspecifiedMatching MONDO:0054573 Lopes-Maciel-Rodan syndrome skos:exactMatch UMLS:C4479491 semapv:UnspecifiedMatching MONDO:0054577 bleeding disorder, platelet-type, 21 skos:exactMatch MEDGEN:1386863 semapv:UnspecifiedMatching MONDO:0054577 bleeding disorder, platelet-type, 21 skos:exactMatch OMIM:617443 bleeding disorder, platelet-type, 21 semapv:UnspecifiedMatching MONDO:0054577 bleeding disorder, platelet-type, 21 skos:exactMatch UMLS:C4479515 semapv:UnspecifiedMatching MONDO:0054581 Townes-Brocks syndrome 1 skos:exactMatch MEDGEN:1635275 semapv:UnspecifiedMatching MONDO:0054581 Townes-Brocks syndrome 1 skos:exactMatch OMIM:107480 townes-brocks syndrome 1 semapv:UnspecifiedMatching MONDO:0054581 Townes-Brocks syndrome 1 skos:exactMatch UMLS:C4551481 semapv:UnspecifiedMatching MONDO:0054582 Townes-Brocks syndrome 2 skos:exactMatch MEDGEN:1381939 semapv:UnspecifiedMatching MONDO:0054582 Townes-Brocks syndrome 2 skos:exactMatch OMIM:617466 townes-brocks syndrome 2 semapv:UnspecifiedMatching MONDO:0054582 Townes-Brocks syndrome 2 skos:exactMatch UMLS:C4479534 semapv:UnspecifiedMatching MONDO:0054588 Noonan syndrome-like disorder with loose anagen hair 2 skos:exactMatch DOID:0080693 Noonan syndrome-like disorder with loose anagen hair 2 semapv:UnspecifiedMatching MONDO:0054588 Noonan syndrome-like disorder with loose anagen hair 2 skos:exactMatch MEDGEN:1376945 semapv:UnspecifiedMatching MONDO:0054588 Noonan syndrome-like disorder with loose anagen hair 2 skos:exactMatch NCIT:C176940 Noonan Syndrome-Like Disorder with Loose Anagen Hair 2 semapv:UnspecifiedMatching MONDO:0054588 Noonan syndrome-like disorder with loose anagen hair 2 skos:exactMatch OMIM:617506 noonan syndrome-like disorder with loose anagen hair 2 semapv:UnspecifiedMatching MONDO:0054588 Noonan syndrome-like disorder with loose anagen hair 2 skos:exactMatch UMLS:C4479577 semapv:UnspecifiedMatching MONDO:0054591 Stankiewicz-Isidor syndrome skos:exactMatch MEDGEN:1375936 semapv:UnspecifiedMatching MONDO:0054591 Stankiewicz-Isidor syndrome skos:exactMatch OMIM:617516 stankiewicz-isidor syndrome semapv:UnspecifiedMatching MONDO:0054591 Stankiewicz-Isidor syndrome skos:exactMatch UMLS:C4479599 semapv:UnspecifiedMatching MONDO:0054593 microcephaly 18, primary, autosomal dominant skos:exactMatch DOID:0070295 primary autosomal dominant microcephaly 18 semapv:UnspecifiedMatching MONDO:0054593 microcephaly 18, primary, autosomal dominant skos:exactMatch MEDGEN:1391110 semapv:UnspecifiedMatching MONDO:0054593 microcephaly 18, primary, autosomal dominant skos:exactMatch OMIM:617520 microcephaly 18, primary, autosomal dominant semapv:UnspecifiedMatching MONDO:0054593 microcephaly 18, primary, autosomal dominant skos:exactMatch UMLS:C4479608 semapv:UnspecifiedMatching MONDO:0054601 pituitary adenoma 5, multiple types skos:exactMatch DOID:0112008 pituitary adenoma 5 semapv:UnspecifiedMatching MONDO:0054601 pituitary adenoma 5, multiple types skos:exactMatch MEDGEN:1615593 semapv:UnspecifiedMatching MONDO:0054601 pituitary adenoma 5, multiple types skos:exactMatch OMIM:617540 pituitary adenoma 5, multiple types semapv:UnspecifiedMatching MONDO:0054601 pituitary adenoma 5, multiple types skos:exactMatch UMLS:C4539685 semapv:UnspecifiedMatching MONDO:0054602 gaze palsy, familial horizontal, with progressive scoliosis, 2 skos:exactMatch MEDGEN:1393733 semapv:UnspecifiedMatching MONDO:0054602 gaze palsy, familial horizontal, with progressive scoliosis, 2 skos:exactMatch OMIM:617542 gaze palsy, familial horizontal, with progressive scoliosis 2, with impaired intellectual development semapv:UnspecifiedMatching MONDO:0054602 gaze palsy, familial horizontal, with progressive scoliosis, 2 skos:exactMatch UMLS:C4479640 semapv:UnspecifiedMatching MONDO:0054615 spermatogenic failure 18 skos:exactMatch DOID:0070165 spermatogenic failure 18 semapv:UnspecifiedMatching MONDO:0054615 spermatogenic failure 18 skos:exactMatch MEDGEN:1617309 semapv:UnspecifiedMatching MONDO:0054615 spermatogenic failure 18 skos:exactMatch OMIM:617576 spermatogenic failure 18 semapv:UnspecifiedMatching MONDO:0054615 spermatogenic failure 18 skos:exactMatch UMLS:C4539783 semapv:UnspecifiedMatching MONDO:0054636 Skraban-Deardorff syndrome skos:exactMatch MEDGEN:1627555 semapv:UnspecifiedMatching MONDO:0054636 Skraban-Deardorff syndrome skos:exactMatch OMIM:617616 skraban-deardorff syndrome semapv:UnspecifiedMatching MONDO:0054636 Skraban-Deardorff syndrome skos:exactMatch Orphanet:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome semapv:UnspecifiedMatching MONDO:0054636 Skraban-Deardorff syndrome skos:exactMatch UMLS:C4539927 semapv:UnspecifiedMatching MONDO:0054637 Noonan syndrome-like disorder with loose anagen hair 1 skos:exactMatch DOID:0080692 Noonan syndrome-like disorder with loose anagen hair 1 semapv:UnspecifiedMatching MONDO:0054637 Noonan syndrome-like disorder with loose anagen hair 1 skos:exactMatch MEDGEN:1379805 semapv:UnspecifiedMatching MONDO:0054637 Noonan syndrome-like disorder with loose anagen hair 1 skos:exactMatch NCIT:C176939 Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 semapv:UnspecifiedMatching MONDO:0054637 Noonan syndrome-like disorder with loose anagen hair 1 skos:exactMatch OMIM:607721 noonan syndrome-like disorder with loose anagen hair 1 semapv:UnspecifiedMatching MONDO:0054637 Noonan syndrome-like disorder with loose anagen hair 1 skos:exactMatch UMLS:C4478716 semapv:UnspecifiedMatching MONDO:0054654 combined oxidative phosphorylation deficiency 32 skos:exactMatch DOID:0111492 combined oxidative phosphorylation deficiency 32 semapv:UnspecifiedMatching MONDO:0054654 combined oxidative phosphorylation deficiency 32 skos:exactMatch MEDGEN:1617600 semapv:UnspecifiedMatching MONDO:0054654 combined oxidative phosphorylation deficiency 32 skos:exactMatch OMIM:617664 combined oxidative phosphorylation deficiency 32 semapv:UnspecifiedMatching MONDO:0054654 combined oxidative phosphorylation deficiency 32 skos:exactMatch UMLS:C4540029 semapv:UnspecifiedMatching MONDO:0054665 pituitary adenoma 3, multiple types skos:exactMatch DOID:0112010 pituitary adenoma 3 semapv:UnspecifiedMatching MONDO:0054665 pituitary adenoma 3, multiple types skos:exactMatch MEDGEN:1620824 semapv:UnspecifiedMatching MONDO:0054665 pituitary adenoma 3, multiple types skos:exactMatch OMIM:617686 pituitary adenoma 3, multiple types semapv:UnspecifiedMatching MONDO:0054665 pituitary adenoma 3, multiple types skos:exactMatch UMLS:C4540135 semapv:UnspecifiedMatching MONDO:0054666 ovarian dysgenesis 5 skos:exactMatch DOID:0080497 ovarian dysgenesis 5 semapv:UnspecifiedMatching MONDO:0054666 ovarian dysgenesis 5 skos:exactMatch MEDGEN:1627972 semapv:UnspecifiedMatching MONDO:0054666 ovarian dysgenesis 5 skos:exactMatch OMIM:617690 ovarian dysgenesis 5 semapv:UnspecifiedMatching MONDO:0054666 ovarian dysgenesis 5 skos:exactMatch UMLS:C4540141 semapv:UnspecifiedMatching MONDO:0054669 pontocerebellar hypoplasia, type 11 skos:exactMatch DOID:0112324 pontocerebellar hypoplasia type 11 semapv:UnspecifiedMatching MONDO:0054669 pontocerebellar hypoplasia, type 11 skos:exactMatch MEDGEN:1627627 semapv:UnspecifiedMatching MONDO:0054669 pontocerebellar hypoplasia, type 11 skos:exactMatch OMIM:617695 pontocerebellar hypoplasia, type 11 semapv:UnspecifiedMatching MONDO:0054669 pontocerebellar hypoplasia, type 11 skos:exactMatch Orphanet:611247 Pontocerebellar hypoplasia type 11 semapv:UnspecifiedMatching MONDO:0054669 pontocerebellar hypoplasia, type 11 skos:exactMatch UMLS:C4540164 semapv:UnspecifiedMatching MONDO:0054677 combined oxidative phosphorylation deficiency 33 skos:exactMatch DOID:0111495 combined oxidative phosphorylation deficiency 33 semapv:UnspecifiedMatching MONDO:0054677 combined oxidative phosphorylation deficiency 33 skos:exactMatch MEDGEN:1623699 semapv:UnspecifiedMatching MONDO:0054677 combined oxidative phosphorylation deficiency 33 skos:exactMatch NCIT:C174440 Combined Oxidative Phosphorylation Deficiency 33 semapv:UnspecifiedMatching MONDO:0054677 combined oxidative phosphorylation deficiency 33 skos:exactMatch OMIM:617713 combined oxidative phosphorylation deficiency 33 semapv:UnspecifiedMatching MONDO:0054677 combined oxidative phosphorylation deficiency 33 skos:exactMatch UMLS:C4540209 semapv:UnspecifiedMatching MONDO:0054680 epiphyseal dysplasia, multiple, 7 skos:exactMatch DOID:0070302 multiple epiphyseal dysplasia 7 semapv:UnspecifiedMatching MONDO:0054680 epiphyseal dysplasia, multiple, 7 skos:exactMatch MEDGEN:1620874 semapv:UnspecifiedMatching MONDO:0054680 epiphyseal dysplasia, multiple, 7 skos:exactMatch OMIM:617719 epiphyseal dysplasia, multiple, 7 semapv:UnspecifiedMatching MONDO:0054680 epiphyseal dysplasia, multiple, 7 skos:exactMatch Orphanet:647676 Multiple epiphyseal dysplasia type 7 semapv:UnspecifiedMatching MONDO:0054680 epiphyseal dysplasia, multiple, 7 skos:exactMatch UMLS:C4540251 semapv:UnspecifiedMatching MONDO:0054691 immunodeficiency, common variable, 14 skos:exactMatch DOID:0081156 common variable immunodeficiency 14 semapv:UnspecifiedMatching MONDO:0054691 immunodeficiency, common variable, 14 skos:exactMatch MEDGEN:1614928 semapv:UnspecifiedMatching MONDO:0054691 immunodeficiency, common variable, 14 skos:exactMatch OMIM:617765 immunodeficiency, common variable, 14 semapv:UnspecifiedMatching MONDO:0054691 immunodeficiency, common variable, 14 skos:exactMatch Orphanet:696904 Common variable immunodeficiency phenotype due to IRF2BP2 deficiency semapv:UnspecifiedMatching MONDO:0054691 immunodeficiency, common variable, 14 skos:exactMatch UMLS:C4540380 semapv:UnspecifiedMatching MONDO:0054695 myopathy, centronuclear, 6, with fiber-type disproportion skos:exactMatch DOID:0111221 centronuclear myopathy 6 with fiber-type disproportion semapv:UnspecifiedMatching MONDO:0054695 myopathy, centronuclear, 6, with fiber-type disproportion skos:exactMatch MEDGEN:1627492 semapv:UnspecifiedMatching MONDO:0054695 myopathy, centronuclear, 6, with fiber-type disproportion skos:exactMatch OMIM:617760 myopathy, centronuclear, 6, with fiber-type disproportion semapv:UnspecifiedMatching MONDO:0054695 myopathy, centronuclear, 6, with fiber-type disproportion skos:exactMatch UMLS:C4540345 semapv:UnspecifiedMatching MONDO:0054696 immunodeficiency 53 skos:exactMatch DOID:0111992 immunodeficiency 53 semapv:UnspecifiedMatching MONDO:0054696 immunodeficiency 53 skos:exactMatch MEDGEN:1612104 semapv:UnspecifiedMatching MONDO:0054696 immunodeficiency 53 skos:exactMatch OMIM:617585 immunodeficiency 53 semapv:UnspecifiedMatching MONDO:0054696 immunodeficiency 53 skos:exactMatch Orphanet:688594 Combined immunodeficiency due to RELB deficiency semapv:UnspecifiedMatching MONDO:0054696 immunodeficiency 53 skos:exactMatch UMLS:C4539811 semapv:UnspecifiedMatching MONDO:0054697 immunodeficiency 11b with atopic dermatitis skos:exactMatch DOID:0111958 immunodeficiency 11B semapv:UnspecifiedMatching MONDO:0054697 immunodeficiency 11b with atopic dermatitis skos:exactMatch MEDGEN:1627819 semapv:UnspecifiedMatching MONDO:0054697 immunodeficiency 11b with atopic dermatitis skos:exactMatch NCIT:C176630 Immunodeficiency 11B with Atopic Dermatitis semapv:UnspecifiedMatching MONDO:0054697 immunodeficiency 11b with atopic dermatitis skos:exactMatch OMIM:617638 immunodeficiency 11b with atopic dermatitis semapv:UnspecifiedMatching MONDO:0054697 immunodeficiency 11b with atopic dermatitis skos:exactMatch UMLS:C4539957 semapv:UnspecifiedMatching MONDO:0054698 proteasome-associated autoinflammatory syndrome 1 skos:exactMatch MEDGEN:1648310 semapv:UnspecifiedMatching MONDO:0054698 proteasome-associated autoinflammatory syndrome 1 skos:exactMatch NCIT:C176619 Proteasome-Associated Autoinflammatory Syndrome 1 semapv:UnspecifiedMatching MONDO:0054698 proteasome-associated autoinflammatory syndrome 1 skos:exactMatch OMIM:256040 proteasome-associated autoinflammatory syndrome 1 semapv:UnspecifiedMatching MONDO:0054698 proteasome-associated autoinflammatory syndrome 1 skos:exactMatch UMLS:C4746851 semapv:UnspecifiedMatching MONDO:0054699 proteasome-associated autoinflammatory syndrome 3 skos:exactMatch DOID:0060916 proteasome-associated autoinflammatory syndrome 3 semapv:UnspecifiedMatching MONDO:0054699 proteasome-associated autoinflammatory syndrome 3 skos:exactMatch MEDGEN:1648456 semapv:UnspecifiedMatching MONDO:0054699 proteasome-associated autoinflammatory syndrome 3 skos:exactMatch OMIM:617591 proteasome-associated autoinflammatory syndrome 3 semapv:UnspecifiedMatching MONDO:0054699 proteasome-associated autoinflammatory syndrome 3 skos:exactMatch UMLS:C4747850 semapv:UnspecifiedMatching MONDO:0054700 proteasome-associated autoinflammatory syndrome 2 skos:exactMatch DOID:0060914 proteosome-associated autoinflammatory syndrome 2 semapv:UnspecifiedMatching MONDO:0054700 proteasome-associated autoinflammatory syndrome 2 skos:exactMatch MEDGEN:1648482 semapv:UnspecifiedMatching MONDO:0054700 proteasome-associated autoinflammatory syndrome 2 skos:exactMatch OMIM:618048 proteasome-associated autoinflammatory syndrome 2 semapv:UnspecifiedMatching MONDO:0054700 proteasome-associated autoinflammatory syndrome 2 skos:exactMatch UMLS:C4747989 semapv:UnspecifiedMatching MONDO:0054701 Kleefstra syndrome 2 skos:exactMatch DOID:0080598 Kleefstra syndrome 2 semapv:UnspecifiedMatching MONDO:0054701 Kleefstra syndrome 2 skos:exactMatch MEDGEN:1623903 semapv:UnspecifiedMatching MONDO:0054701 Kleefstra syndrome 2 skos:exactMatch OMIM:617768 kleefstra syndrome 2 semapv:UnspecifiedMatching MONDO:0054701 Kleefstra syndrome 2 skos:exactMatch UMLS:C4540395 semapv:UnspecifiedMatching MONDO:0054708 retinitis pigmentosa 80 skos:exactMatch DOID:0061111 retinitis pigmentosa 80 semapv:UnspecifiedMatching MONDO:0054708 retinitis pigmentosa 80 skos:exactMatch MEDGEN:1619674 semapv:UnspecifiedMatching MONDO:0054708 retinitis pigmentosa 80 skos:exactMatch OMIM:617781 retinitis pigmentosa 80 semapv:UnspecifiedMatching MONDO:0054708 retinitis pigmentosa 80 skos:exactMatch UMLS:C4540439 semapv:UnspecifiedMatching MONDO:0054716 microcephaly 19, primary, autosomal recessive skos:exactMatch DOID:0070281 primary autosomal recessive microcephaly 19 semapv:UnspecifiedMatching MONDO:0054716 microcephaly 19, primary, autosomal recessive skos:exactMatch MEDGEN:1616860 semapv:UnspecifiedMatching MONDO:0054716 microcephaly 19, primary, autosomal recessive skos:exactMatch OMIM:617800 microcephaly 19, primary, autosomal recessive semapv:UnspecifiedMatching MONDO:0054716 microcephaly 19, primary, autosomal recessive skos:exactMatch UMLS:C4540488 semapv:UnspecifiedMatching MONDO:0054722 geleophysic dysplasia 3 skos:exactMatch DOID:0111727 geleophysic dysplasia 3 semapv:UnspecifiedMatching MONDO:0054722 geleophysic dysplasia 3 skos:exactMatch MEDGEN:1615724 semapv:UnspecifiedMatching MONDO:0054722 geleophysic dysplasia 3 skos:exactMatch OMIM:617809 geleophysic dysplasia 3 semapv:UnspecifiedMatching MONDO:0054722 geleophysic dysplasia 3 skos:exactMatch UMLS:C4540511 semapv:UnspecifiedMatching MONDO:0054723 spermatogenic failure 19 skos:exactMatch DOID:0070170 spermatogenic failure 19 semapv:UnspecifiedMatching MONDO:0054723 spermatogenic failure 19 skos:exactMatch MEDGEN:1614356 semapv:UnspecifiedMatching MONDO:0054723 spermatogenic failure 19 skos:exactMatch OMIM:617592 spermatogenic failure 19 semapv:UnspecifiedMatching MONDO:0054723 spermatogenic failure 19 skos:exactMatch UMLS:C4539818 semapv:UnspecifiedMatching MONDO:0054724 spermatogenic failure 20 skos:exactMatch DOID:0070166 spermatogenic failure 20 semapv:UnspecifiedMatching MONDO:0054724 spermatogenic failure 20 skos:exactMatch MEDGEN:1621256 semapv:UnspecifiedMatching MONDO:0054724 spermatogenic failure 20 skos:exactMatch OMIM:617593 spermatogenic failure 20 semapv:UnspecifiedMatching MONDO:0054724 spermatogenic failure 20 skos:exactMatch UMLS:C4539824 semapv:UnspecifiedMatching MONDO:0054725 spermatogenic failure 21 skos:exactMatch DOID:0070163 spermatogenic failure 21 semapv:UnspecifiedMatching MONDO:0054725 spermatogenic failure 21 skos:exactMatch MEDGEN:1617056 semapv:UnspecifiedMatching MONDO:0054725 spermatogenic failure 21 skos:exactMatch OMIM:617644 spermatogenic failure 21 semapv:UnspecifiedMatching MONDO:0054725 spermatogenic failure 21 skos:exactMatch UMLS:C4539991 semapv:UnspecifiedMatching MONDO:0054726 spermatogenic failure 22 skos:exactMatch DOID:0070177 spermatogenic failure 22 semapv:UnspecifiedMatching MONDO:0054726 spermatogenic failure 22 skos:exactMatch MEDGEN:1618089 semapv:UnspecifiedMatching MONDO:0054726 spermatogenic failure 22 skos:exactMatch OMIM:617706 spermatogenic failure 22 semapv:UnspecifiedMatching MONDO:0054726 spermatogenic failure 22 skos:exactMatch UMLS:C4540179 semapv:UnspecifiedMatching MONDO:0054727 spermatogenic failure 23 skos:exactMatch DOID:0070181 spermatogenic failure 23 semapv:UnspecifiedMatching MONDO:0054727 spermatogenic failure 23 skos:exactMatch MEDGEN:1626589 semapv:UnspecifiedMatching MONDO:0054727 spermatogenic failure 23 skos:exactMatch OMIM:617707 spermatogenic failure 23 semapv:UnspecifiedMatching MONDO:0054727 spermatogenic failure 23 skos:exactMatch UMLS:C4540185 semapv:UnspecifiedMatching MONDO:0054728 spermatogenic failure 24 skos:exactMatch DOID:0111929 spermatogenic failure 24 semapv:UnspecifiedMatching MONDO:0054728 spermatogenic failure 24 skos:exactMatch MEDGEN:1646063 semapv:UnspecifiedMatching MONDO:0054728 spermatogenic failure 24 skos:exactMatch OMIM:617959 spermatogenic failure 24 semapv:UnspecifiedMatching MONDO:0054728 spermatogenic failure 24 skos:exactMatch UMLS:C4693751 semapv:UnspecifiedMatching MONDO:0054729 spermatogenic failure 25 skos:exactMatch DOID:0111920 spermatogenic failure 25 semapv:UnspecifiedMatching MONDO:0054729 spermatogenic failure 25 skos:exactMatch MEDGEN:1646677 semapv:UnspecifiedMatching MONDO:0054729 spermatogenic failure 25 skos:exactMatch OMIM:617960 spermatogenic failure 25 semapv:UnspecifiedMatching MONDO:0054729 spermatogenic failure 25 skos:exactMatch UMLS:C4693765 semapv:UnspecifiedMatching MONDO:0054730 spermatogenic failure 26 skos:exactMatch DOID:0111924 spermatogenic failure 26 semapv:UnspecifiedMatching MONDO:0054730 spermatogenic failure 26 skos:exactMatch MEDGEN:1644751 semapv:UnspecifiedMatching MONDO:0054730 spermatogenic failure 26 skos:exactMatch OMIM:617961 spermatogenic failure 26 semapv:UnspecifiedMatching MONDO:0054730 spermatogenic failure 26 skos:exactMatch UMLS:C4693773 semapv:UnspecifiedMatching MONDO:0054731 spermatogenic failure 27 skos:exactMatch DOID:0111928 spermatogenic failure 27 semapv:UnspecifiedMatching MONDO:0054731 spermatogenic failure 27 skos:exactMatch MEDGEN:1634748 semapv:UnspecifiedMatching MONDO:0054731 spermatogenic failure 27 skos:exactMatch OMIM:617965 spermatogenic failure 27 semapv:UnspecifiedMatching MONDO:0054731 spermatogenic failure 27 skos:exactMatch UMLS:C4693784 semapv:UnspecifiedMatching MONDO:0054732 spermatogenic failure 28 skos:exactMatch DOID:0111916 spermatogenic failure 28 semapv:UnspecifiedMatching MONDO:0054732 spermatogenic failure 28 skos:exactMatch MEDGEN:1648494 semapv:UnspecifiedMatching MONDO:0054732 spermatogenic failure 28 skos:exactMatch OMIM:618086 spermatogenic failure 28 semapv:UnspecifiedMatching MONDO:0054732 spermatogenic failure 28 skos:exactMatch UMLS:C4748117 semapv:UnspecifiedMatching MONDO:0054733 spermatogenic failure 29 skos:exactMatch DOID:0111930 spermatogenic failure 29 semapv:UnspecifiedMatching MONDO:0054733 spermatogenic failure 29 skos:exactMatch MEDGEN:1648499 semapv:UnspecifiedMatching MONDO:0054733 spermatogenic failure 29 skos:exactMatch OMIM:618091 spermatogenic failure 29 semapv:UnspecifiedMatching MONDO:0054733 spermatogenic failure 29 skos:exactMatch UMLS:C4748142 semapv:UnspecifiedMatching MONDO:0054736 mosaic variegated aneuploidy syndrome 3 skos:exactMatch DOID:0080689 mosaic variegated aneuploidy syndrome 3 semapv:UnspecifiedMatching MONDO:0054736 mosaic variegated aneuploidy syndrome 3 skos:exactMatch MEDGEN:1616382 semapv:UnspecifiedMatching MONDO:0054736 mosaic variegated aneuploidy syndrome 3 skos:exactMatch OMIM:617598 mosaic variegated aneuploidy syndrome 3 semapv:UnspecifiedMatching MONDO:0054736 mosaic variegated aneuploidy syndrome 3 skos:exactMatch UMLS:C4539839 semapv:UnspecifiedMatching MONDO:0054737 Fraser syndrome 1 skos:exactMatch DOID:0111405 Fraser syndrome 1 semapv:UnspecifiedMatching MONDO:0054737 Fraser syndrome 1 skos:exactMatch MEDGEN:1639061 semapv:UnspecifiedMatching MONDO:0054737 Fraser syndrome 1 skos:exactMatch OMIM:219000 fraser syndrome 1 semapv:UnspecifiedMatching MONDO:0054737 Fraser syndrome 1 skos:exactMatch UMLS:C4551480 semapv:UnspecifiedMatching MONDO:0054738 Fraser syndrome 2 skos:exactMatch DOID:0111407 Fraser syndrome 2 semapv:UnspecifiedMatching MONDO:0054738 Fraser syndrome 2 skos:exactMatch MEDGEN:1624349 semapv:UnspecifiedMatching MONDO:0054738 Fraser syndrome 2 skos:exactMatch OMIM:617666 fraser syndrome 2 semapv:UnspecifiedMatching MONDO:0054738 Fraser syndrome 2 skos:exactMatch UMLS:C4540036 semapv:UnspecifiedMatching MONDO:0054739 Fraser syndrome 3 skos:exactMatch DOID:0111406 Fraser syndrome 3 semapv:UnspecifiedMatching MONDO:0054739 Fraser syndrome 3 skos:exactMatch MEDGEN:1621907 semapv:UnspecifiedMatching MONDO:0054739 Fraser syndrome 3 skos:exactMatch OMIM:617667 fraser syndrome 3 semapv:UnspecifiedMatching MONDO:0054739 Fraser syndrome 3 skos:exactMatch UMLS:C4540040 semapv:UnspecifiedMatching MONDO:0054740 blepharocheilodontic syndrome 1 skos:exactMatch DOID:0080345 blepharocheilodontic syndrome 1 semapv:UnspecifiedMatching MONDO:0054740 blepharocheilodontic syndrome 1 skos:exactMatch MEDGEN:1632198 semapv:UnspecifiedMatching MONDO:0054740 blepharocheilodontic syndrome 1 skos:exactMatch OMIM:119580 blepharocheilodontic syndrome 1 semapv:UnspecifiedMatching MONDO:0054740 blepharocheilodontic syndrome 1 skos:exactMatch UMLS:C4551988 semapv:UnspecifiedMatching MONDO:0054741 combined oxidative phosphorylation deficiency 34 skos:exactMatch DOID:0111497 combined oxidative phosphorylation deficiency 34 semapv:UnspecifiedMatching MONDO:0054741 combined oxidative phosphorylation deficiency 34 skos:exactMatch MEDGEN:1631307 semapv:UnspecifiedMatching MONDO:0054741 combined oxidative phosphorylation deficiency 34 skos:exactMatch OMIM:617872 combined oxidative phosphorylation deficiency 34 semapv:UnspecifiedMatching MONDO:0054741 combined oxidative phosphorylation deficiency 34 skos:exactMatch Orphanet:457223 Syndromic sensorineural deafness due to combined oxidative phosphorylation defect semapv:UnspecifiedMatching MONDO:0054741 combined oxidative phosphorylation deficiency 34 skos:exactMatch UMLS:C4693450 semapv:UnspecifiedMatching MONDO:0054742 combined oxidative phosphorylation deficiency 35 skos:exactMatch DOID:0111464 combined oxidative phosphorylation deficiency 35 semapv:UnspecifiedMatching MONDO:0054742 combined oxidative phosphorylation deficiency 35 skos:exactMatch MEDGEN:1639653 semapv:UnspecifiedMatching MONDO:0054742 combined oxidative phosphorylation deficiency 35 skos:exactMatch OMIM:617873 combined oxidative phosphorylation deficiency 35 semapv:UnspecifiedMatching MONDO:0054742 combined oxidative phosphorylation deficiency 35 skos:exactMatch UMLS:C4693466 semapv:UnspecifiedMatching MONDO:0054743 polycystic liver disease 3 with or without kidney cysts skos:exactMatch DOID:0060976 polycystic liver disease 3 semapv:UnspecifiedMatching MONDO:0054743 polycystic liver disease 3 with or without kidney cysts skos:exactMatch MEDGEN:1646969 semapv:UnspecifiedMatching MONDO:0054743 polycystic liver disease 3 with or without kidney cysts skos:exactMatch OMIM:617874 polycystic liver disease 3 with or without kidney cysts semapv:UnspecifiedMatching MONDO:0054743 polycystic liver disease 3 with or without kidney cysts skos:exactMatch UMLS:C4693472 semapv:UnspecifiedMatching MONDO:0054748 Fanconi anemia, complementation group S skos:exactMatch DOID:0060979 Fanconi anemia complementation group S semapv:UnspecifiedMatching MONDO:0054748 Fanconi anemia, complementation group S skos:exactMatch MEDGEN:1632414 semapv:UnspecifiedMatching MONDO:0054748 Fanconi anemia, complementation group S skos:exactMatch OMIM:617883 fanconi anemia, complementation group s semapv:UnspecifiedMatching MONDO:0054748 Fanconi anemia, complementation group S skos:exactMatch UMLS:C4554406 semapv:UnspecifiedMatching MONDO:0054749 obsolete body mass index quantitative trait locus 19 skos:exactMatch OMIM:617885 body mass index quantitative trait locus 19 semapv:UnspecifiedMatching MONDO:0054750 amyotrophic lateral sclerosis, susceptibility to, 24 skos:exactMatch DOID:0081378 amyotrophic lateral sclerosis type 24 semapv:UnspecifiedMatching MONDO:0054750 amyotrophic lateral sclerosis, susceptibility to, 24 skos:exactMatch MEDGEN:1632999 semapv:UnspecifiedMatching MONDO:0054750 amyotrophic lateral sclerosis, susceptibility to, 24 skos:exactMatch OMIM:617892 amyotrophic lateral sclerosis, susceptibility to, 24 semapv:UnspecifiedMatching MONDO:0054750 amyotrophic lateral sclerosis, susceptibility to, 24 skos:exactMatch UMLS:C4693523 semapv:UnspecifiedMatching MONDO:0054752 multiple synostoses syndrome 4 skos:exactMatch DOID:0081320 multiple synostoses syndrome 4 semapv:UnspecifiedMatching MONDO:0054752 multiple synostoses syndrome 4 skos:exactMatch MEDGEN:1638842 semapv:UnspecifiedMatching MONDO:0054752 multiple synostoses syndrome 4 skos:exactMatch OMIM:617898 multiple synostoses syndrome 4 semapv:UnspecifiedMatching MONDO:0054752 multiple synostoses syndrome 4 skos:exactMatch UMLS:C4693531 semapv:UnspecifiedMatching MONDO:0054754 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 skos:exactMatch MEDGEN:1646997 semapv:UnspecifiedMatching MONDO:0054754 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 skos:exactMatch OMIM:617900 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 semapv:UnspecifiedMatching MONDO:0054754 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 skos:exactMatch UMLS:C4693542 semapv:UnspecifiedMatching MONDO:0054761 microcephaly 20, primary, autosomal recessive skos:exactMatch DOID:0051031 primary autosomal recessive microcephaly 20 semapv:UnspecifiedMatching MONDO:0054761 microcephaly 20, primary, autosomal recessive skos:exactMatch MEDGEN:1641618 semapv:UnspecifiedMatching MONDO:0054761 microcephaly 20, primary, autosomal recessive skos:exactMatch OMIM:617914 microcephaly 20, primary, autosomal recessive semapv:UnspecifiedMatching MONDO:0054761 microcephaly 20, primary, autosomal recessive skos:exactMatch UMLS:C4693572 semapv:UnspecifiedMatching MONDO:0054763 neurodegeneration with brain iron accumulation 7 skos:exactMatch MEDGEN:1647672 semapv:UnspecifiedMatching MONDO:0054763 neurodegeneration with brain iron accumulation 7 skos:exactMatch OMIM:617916 neurodegeneration with brain iron accumulation 7 semapv:UnspecifiedMatching MONDO:0054763 neurodegeneration with brain iron accumulation 7 skos:exactMatch UMLS:C4693583 semapv:UnspecifiedMatching MONDO:0054764 neurodegeneration with brain iron accumulation 8 skos:exactMatch MEDGEN:1645224 semapv:UnspecifiedMatching MONDO:0054764 neurodegeneration with brain iron accumulation 8 skos:exactMatch OMIM:617917 neurodegeneration with brain iron accumulation 8 semapv:UnspecifiedMatching MONDO:0054764 neurodegeneration with brain iron accumulation 8 skos:exactMatch UMLS:C4693587 semapv:UnspecifiedMatching MONDO:0054765 amyloidosis, primary localized cutaneous, 3 skos:exactMatch MEDGEN:1640641 semapv:UnspecifiedMatching MONDO:0054765 amyloidosis, primary localized cutaneous, 3 skos:exactMatch OMIM:617920 amyloidosis, primary localized cutaneous, 3 semapv:UnspecifiedMatching MONDO:0054765 amyloidosis, primary localized cutaneous, 3 skos:exactMatch UMLS:C4554421 semapv:UnspecifiedMatching MONDO:0054770 orofaciodigital syndrome 18 skos:exactMatch DOID:0060961 orofaciodigital syndrome XVIII semapv:UnspecifiedMatching MONDO:0054770 orofaciodigital syndrome 18 skos:exactMatch MEDGEN:1799326 semapv:UnspecifiedMatching MONDO:0054770 orofaciodigital syndrome 18 skos:exactMatch OMIM:617927 orofaciodigital syndrome 18 semapv:UnspecifiedMatching MONDO:0054770 orofaciodigital syndrome 18 skos:exactMatch Orphanet:508501 Oral-facial-digital syndrome with short stature and brachymesophalangy semapv:UnspecifiedMatching MONDO:0054770 orofaciodigital syndrome 18 skos:exactMatch UMLS:C5567903 semapv:UnspecifiedMatching MONDO:0054771 keratoconus 9 skos:exactMatch MEDGEN:1645093 semapv:UnspecifiedMatching MONDO:0054771 keratoconus 9 skos:exactMatch OMIM:617928 keratoconus 9 semapv:UnspecifiedMatching MONDO:0054771 keratoconus 9 skos:exactMatch UMLS:C4693660 semapv:UnspecifiedMatching MONDO:0054776 epilepsy, familial focal, with variable foci 4 skos:exactMatch DOID:0081424 familial focal epilepsy with variable foci 4 semapv:UnspecifiedMatching MONDO:0054776 epilepsy, familial focal, with variable foci 4 skos:exactMatch MEDGEN:1644614 semapv:UnspecifiedMatching MONDO:0054776 epilepsy, familial focal, with variable foci 4 skos:exactMatch OMIM:617935 epilepsy, familial focal, with variable foci 4 semapv:UnspecifiedMatching MONDO:0054776 epilepsy, familial focal, with variable foci 4 skos:exactMatch UMLS:C4693694 semapv:UnspecifiedMatching MONDO:0054780 elliptocytosis 3 skos:exactMatch MEDGEN:357139 semapv:UnspecifiedMatching MONDO:0054780 elliptocytosis 3 skos:exactMatch OMIM:617948 elliptocytosis 3 semapv:UnspecifiedMatching MONDO:0054780 elliptocytosis 3 skos:exactMatch UMLS:C1866810 semapv:UnspecifiedMatching MONDO:0054780 elliptocytosis 3 skos:exactMatch mesh:C566678 semapv:UnspecifiedMatching MONDO:0054781 combined oxidative phosphorylation deficiency 36 skos:exactMatch DOID:0111482 combined oxidative phosphorylation deficiency 36 semapv:UnspecifiedMatching MONDO:0054781 combined oxidative phosphorylation deficiency 36 skos:exactMatch MEDGEN:1644927 semapv:UnspecifiedMatching MONDO:0054781 combined oxidative phosphorylation deficiency 36 skos:exactMatch OMIM:617950 combined oxidative phosphorylation deficiency 36 semapv:UnspecifiedMatching MONDO:0054781 combined oxidative phosphorylation deficiency 36 skos:exactMatch UMLS:C4693722 semapv:UnspecifiedMatching MONDO:0054782 leukodystrophy, hypomyelinating, 15 skos:exactMatch DOID:0070398 hypomyelinating leukodystrophy 15 semapv:UnspecifiedMatching MONDO:0054782 leukodystrophy, hypomyelinating, 15 skos:exactMatch MEDGEN:1633653 semapv:UnspecifiedMatching MONDO:0054782 leukodystrophy, hypomyelinating, 15 skos:exactMatch OMIM:617951 leukodystrophy, hypomyelinating, 15 semapv:UnspecifiedMatching MONDO:0054782 leukodystrophy, hypomyelinating, 15 skos:exactMatch UMLS:C4693733 semapv:UnspecifiedMatching MONDO:0054785 multiple mitochondrial dysfunctions syndrome 6 skos:exactMatch DOID:0070332 multiple mitochondrial dysfunctions syndrome 6 semapv:UnspecifiedMatching MONDO:0054785 multiple mitochondrial dysfunctions syndrome 6 skos:exactMatch MEDGEN:1643082 semapv:UnspecifiedMatching MONDO:0054785 multiple mitochondrial dysfunctions syndrome 6 skos:exactMatch OMIM:617954 multiple mitochondrial dysfunctions syndrome 6 semapv:UnspecifiedMatching MONDO:0054785 multiple mitochondrial dysfunctions syndrome 6 skos:exactMatch Orphanet:569290 Multiple mitochondrial dysfunctions syndrome type 6 semapv:UnspecifiedMatching MONDO:0054785 multiple mitochondrial dysfunctions syndrome 6 skos:exactMatch UMLS:C4693741 semapv:UnspecifiedMatching MONDO:0054791 leukodystrophy, hypomyelinating, 16 skos:exactMatch DOID:0070405 hypomyelinating leukodystrophy 16 semapv:UnspecifiedMatching MONDO:0054791 leukodystrophy, hypomyelinating, 16 skos:exactMatch MEDGEN:1631337 semapv:UnspecifiedMatching MONDO:0054791 leukodystrophy, hypomyelinating, 16 skos:exactMatch OMIM:617964 leukodystrophy, hypomyelinating, 16 semapv:UnspecifiedMatching MONDO:0054791 leukodystrophy, hypomyelinating, 16 skos:exactMatch UMLS:C4693779 semapv:UnspecifiedMatching MONDO:0054794 hydrocephalus, congenital, 3, with brain anomalies skos:exactMatch MEDGEN:1648319 semapv:UnspecifiedMatching MONDO:0054794 hydrocephalus, congenital, 3, with brain anomalies skos:exactMatch OMIM:617967 hydrocephalus, congenital, 3, with brain anomalies semapv:UnspecifiedMatching MONDO:0054794 hydrocephalus, congenital, 3, with brain anomalies skos:exactMatch UMLS:C4747885 semapv:UnspecifiedMatching MONDO:0054801 erythrocytosis, familial, 6 skos:exactMatch DOID:0111632 familial erythrocytosis 6 semapv:UnspecifiedMatching MONDO:0054801 erythrocytosis, familial, 6 skos:exactMatch MEDGEN:1634191 semapv:UnspecifiedMatching MONDO:0054801 erythrocytosis, familial, 6 skos:exactMatch OMIM:617980 erythrocytosis, familial, 6 semapv:UnspecifiedMatching MONDO:0054801 erythrocytosis, familial, 6 skos:exactMatch UMLS:C4693822 semapv:UnspecifiedMatching MONDO:0054802 erythrocytosis, familial, 7 skos:exactMatch DOID:0111631 familial erythrocytosis 7 semapv:UnspecifiedMatching MONDO:0054802 erythrocytosis, familial, 7 skos:exactMatch MEDGEN:1642594 semapv:UnspecifiedMatching MONDO:0054802 erythrocytosis, familial, 7 skos:exactMatch OMIM:617981 erythrocytosis, familial, 7 semapv:UnspecifiedMatching MONDO:0054802 erythrocytosis, familial, 7 skos:exactMatch UMLS:C4693823 semapv:UnspecifiedMatching MONDO:0054804 microcephaly 21, primary, autosomal recessive skos:exactMatch DOID:0051032 primary autosomal recessive microcephaly 21 semapv:UnspecifiedMatching MONDO:0054804 microcephaly 21, primary, autosomal recessive skos:exactMatch MEDGEN:1646916 semapv:UnspecifiedMatching MONDO:0054804 microcephaly 21, primary, autosomal recessive skos:exactMatch OMIM:617983 microcephaly 21, primary, autosomal recessive semapv:UnspecifiedMatching MONDO:0054804 microcephaly 21, primary, autosomal recessive skos:exactMatch UMLS:C4693831 semapv:UnspecifiedMatching MONDO:0054805 microcephaly 22, primary, autosomal recessive skos:exactMatch DOID:0051033 primary autosomal recessive microcephaly 22 semapv:UnspecifiedMatching MONDO:0054805 microcephaly 22, primary, autosomal recessive skos:exactMatch MEDGEN:1635688 semapv:UnspecifiedMatching MONDO:0054805 microcephaly 22, primary, autosomal recessive skos:exactMatch OMIM:617984 microcephaly 22, primary, autosomal recessive semapv:UnspecifiedMatching MONDO:0054805 microcephaly 22, primary, autosomal recessive skos:exactMatch UMLS:C4693834 semapv:UnspecifiedMatching MONDO:0054806 microcephaly 23, primary, autosomal recessive skos:exactMatch DOID:0051034 primary autosomal recessive microcephaly 23 semapv:UnspecifiedMatching MONDO:0054806 microcephaly 23, primary, autosomal recessive skos:exactMatch MEDGEN:1631589 semapv:UnspecifiedMatching MONDO:0054806 microcephaly 23, primary, autosomal recessive skos:exactMatch OMIM:617985 microcephaly 23, primary, autosomal recessive semapv:UnspecifiedMatching MONDO:0054806 microcephaly 23, primary, autosomal recessive skos:exactMatch UMLS:C4693843 semapv:UnspecifiedMatching MONDO:0054813 Ehlers-Danlos syndrome, classic-like, 2 skos:exactMatch DOID:0080732 Ehlers-Danlos syndrome classic-like 2 semapv:UnspecifiedMatching MONDO:0054813 Ehlers-Danlos syndrome, classic-like, 2 skos:exactMatch MEDGEN:1632001 semapv:UnspecifiedMatching MONDO:0054813 Ehlers-Danlos syndrome, classic-like, 2 skos:exactMatch OMIM:618000 ehlers-danlos syndrome, classic-like, 2 semapv:UnspecifiedMatching MONDO:0054813 Ehlers-Danlos syndrome, classic-like, 2 skos:exactMatch Orphanet:536532 Classical-like Ehlers-Danlos syndrome type 2 semapv:UnspecifiedMatching MONDO:0054813 Ehlers-Danlos syndrome, classic-like, 2 skos:exactMatch UMLS:C4693870 semapv:UnspecifiedMatching MONDO:0054817 leukodystrophy, hypomyelinating, 17 skos:exactMatch DOID:0070404 hypomyelinating leukodystrophy 17 semapv:UnspecifiedMatching MONDO:0054817 leukodystrophy, hypomyelinating, 17 skos:exactMatch MEDGEN:1644557 semapv:UnspecifiedMatching MONDO:0054817 leukodystrophy, hypomyelinating, 17 skos:exactMatch OMIM:618006 leukodystrophy, hypomyelinating, 17 semapv:UnspecifiedMatching MONDO:0054817 leukodystrophy, hypomyelinating, 17 skos:exactMatch UMLS:C4693912 semapv:UnspecifiedMatching MONDO:0054831 Coffin-Siris syndrome 7 skos:exactMatch DOID:0112369 Coffin-Siris syndrome 7 semapv:UnspecifiedMatching MONDO:0054831 Coffin-Siris syndrome 7 skos:exactMatch MEDGEN:1648281 semapv:UnspecifiedMatching MONDO:0054831 Coffin-Siris syndrome 7 skos:exactMatch OMIM:618027 coffin-siris syndrome 7 semapv:UnspecifiedMatching MONDO:0054831 Coffin-Siris syndrome 7 skos:exactMatch UMLS:C4747954 semapv:UnspecifiedMatching MONDO:0054832 corneal dystrophy, posterior polymorphous, 4 skos:exactMatch DOID:0080669 posterior polymorphous corneal dystrophy 4 semapv:UnspecifiedMatching MONDO:0054832 corneal dystrophy, posterior polymorphous, 4 skos:exactMatch MEDGEN:1648359 semapv:UnspecifiedMatching MONDO:0054832 corneal dystrophy, posterior polymorphous, 4 skos:exactMatch OMIM:618031 corneal dystrophy, posterior polymorphous, 4 semapv:UnspecifiedMatching MONDO:0054832 corneal dystrophy, posterior polymorphous, 4 skos:exactMatch UMLS:C4747961 semapv:UnspecifiedMatching MONDO:0054833 Charcot-Marie-tooth disease, axonal, type 2DD skos:exactMatch DOID:0111558 Charcot-Marie-Tooth disease type 2DD semapv:UnspecifiedMatching MONDO:0054833 Charcot-Marie-tooth disease, axonal, type 2DD skos:exactMatch MEDGEN:1648475 semapv:UnspecifiedMatching MONDO:0054833 Charcot-Marie-tooth disease, axonal, type 2DD skos:exactMatch OMIM:618036 charcot-marie-tooth disease, axonal, type 2dd semapv:UnspecifiedMatching MONDO:0054833 Charcot-Marie-tooth disease, axonal, type 2DD skos:exactMatch Orphanet:521414 Autosomal dominant Charcot-Marie-Tooth disease type 2DD semapv:UnspecifiedMatching MONDO:0054833 Charcot-Marie-tooth disease, axonal, type 2DD skos:exactMatch UMLS:C4747974 semapv:UnspecifiedMatching MONDO:0054835 classic dopamine transporter deficiency syndrome skos:exactMatch DOID:0070489 classic dopamine transporter deficiency syndrome semapv:UnspecifiedMatching MONDO:0054835 classic dopamine transporter deficiency syndrome skos:exactMatch MEDGEN:1814585 semapv:UnspecifiedMatching MONDO:0054835 classic dopamine transporter deficiency syndrome skos:exactMatch NCIT:C129866 Dopamine Transporter Deficiency Syndrome semapv:UnspecifiedMatching MONDO:0054835 classic dopamine transporter deficiency syndrome skos:exactMatch OMIM:613135 parkinsonism-dystonia 1, infantile-onset semapv:UnspecifiedMatching MONDO:0054835 classic dopamine transporter deficiency syndrome skos:exactMatch SCTID:722763000 semapv:UnspecifiedMatching MONDO:0054835 classic dopamine transporter deficiency syndrome skos:exactMatch UMLS:C5700336 semapv:UnspecifiedMatching MONDO:0054837 intellectual disability, autosomal dominant 57 skos:exactMatch DOID:0061031 autosomal dominant intellectual developmental disorder 57 semapv:UnspecifiedMatching MONDO:0054837 intellectual disability, autosomal dominant 57 skos:exactMatch MEDGEN:1648280 semapv:UnspecifiedMatching MONDO:0054837 intellectual disability, autosomal dominant 57 skos:exactMatch OMIM:618050 intellectual developmental disorder, autosomal dominant 57 semapv:UnspecifiedMatching MONDO:0054837 intellectual disability, autosomal dominant 57 skos:exactMatch UMLS:C4748003 semapv:UnspecifiedMatching MONDO:0054838 cardiomyopathy, familial hypertrophic 27 skos:exactMatch DOID:0061102 hypertrophic cardiomyopathy 27 semapv:UnspecifiedMatching MONDO:0054838 cardiomyopathy, familial hypertrophic 27 skos:exactMatch MEDGEN:1648325 semapv:UnspecifiedMatching MONDO:0054838 cardiomyopathy, familial hypertrophic 27 skos:exactMatch OMIM:618052 cardiomyopathy, familial hypertrophic, 27 semapv:UnspecifiedMatching MONDO:0054838 cardiomyopathy, familial hypertrophic 27 skos:exactMatch UMLS:C4748014 semapv:UnspecifiedMatching MONDO:0054842 polycystic kidney disease 6 with or without polycystic liver disease skos:exactMatch DOID:0060951 polycystic kidney disease 6 semapv:UnspecifiedMatching MONDO:0054842 polycystic kidney disease 6 with or without polycystic liver disease skos:exactMatch MEDGEN:1648469 semapv:UnspecifiedMatching MONDO:0054842 polycystic kidney disease 6 with or without polycystic liver disease skos:exactMatch OMIM:618061 polycystic kidney disease 6 with or without polycystic liver disease semapv:UnspecifiedMatching MONDO:0054842 polycystic kidney disease 6 with or without polycystic liver disease skos:exactMatch UMLS:C4748044 semapv:UnspecifiedMatching MONDO:0054843 ciliary dyskinesia, primary, 38 skos:exactMatch DOID:0111852 primary ciliary dyskinesia 38 semapv:UnspecifiedMatching MONDO:0054843 ciliary dyskinesia, primary, 38 skos:exactMatch MEDGEN:1648465 semapv:UnspecifiedMatching MONDO:0054843 ciliary dyskinesia, primary, 38 skos:exactMatch OMIM:618063 ciliary dyskinesia, primary, 38 semapv:UnspecifiedMatching MONDO:0054843 ciliary dyskinesia, primary, 38 skos:exactMatch UMLS:C4748052 semapv:UnspecifiedMatching MONDO:0054844 pontocerebellar hypoplasia, type 1D skos:exactMatch DOID:0112323 pontocerebellar hypoplasia type 1D semapv:UnspecifiedMatching MONDO:0054844 pontocerebellar hypoplasia, type 1D skos:exactMatch MEDGEN:1648387 semapv:UnspecifiedMatching MONDO:0054844 pontocerebellar hypoplasia, type 1D skos:exactMatch OMIM:618065 pontocerebellar hypoplasia, type 1d semapv:UnspecifiedMatching MONDO:0054844 pontocerebellar hypoplasia, type 1D skos:exactMatch UMLS:C4748058 semapv:UnspecifiedMatching MONDO:0054845 developmental and epileptic encephalopathy, 66 skos:exactMatch DOID:0080446 developmental and epileptic encephalopathy 66 semapv:UnspecifiedMatching MONDO:0054845 developmental and epileptic encephalopathy, 66 skos:exactMatch MEDGEN:1648486 semapv:UnspecifiedMatching MONDO:0054845 developmental and epileptic encephalopathy, 66 skos:exactMatch OMIM:618067 developmental and epileptic encephalopathy 66 semapv:UnspecifiedMatching MONDO:0054845 developmental and epileptic encephalopathy, 66 skos:exactMatch UMLS:C4748070 semapv:UnspecifiedMatching MONDO:0054846 epilepsy, familial adult myoclonic, 6 skos:exactMatch DOID:0111696 familial adult myoclonic epilepsy 6 semapv:UnspecifiedMatching MONDO:0054846 epilepsy, familial adult myoclonic, 6 skos:exactMatch MEDGEN:1648448 semapv:UnspecifiedMatching MONDO:0054846 epilepsy, familial adult myoclonic, 6 skos:exactMatch OMIM:618074 epilepsy, familial adult myoclonic, 6 semapv:UnspecifiedMatching MONDO:0054846 epilepsy, familial adult myoclonic, 6 skos:exactMatch UMLS:C4748079 semapv:UnspecifiedMatching MONDO:0054847 epilepsy, familial adult myoclonic, 7 skos:exactMatch DOID:0111694 familial adult myoclonic epilepsy 7 semapv:UnspecifiedMatching MONDO:0054847 epilepsy, familial adult myoclonic, 7 skos:exactMatch MEDGEN:1648435 semapv:UnspecifiedMatching MONDO:0054847 epilepsy, familial adult myoclonic, 7 skos:exactMatch OMIM:618075 epilepsy, familial adult myoclonic, 7 semapv:UnspecifiedMatching MONDO:0054847 epilepsy, familial adult myoclonic, 7 skos:exactMatch UMLS:C4748080 semapv:UnspecifiedMatching MONDO:0054849 inflammatory bowel disease 29 skos:exactMatch DOID:0112155 inflammatory bowel disease 29 semapv:UnspecifiedMatching MONDO:0054849 inflammatory bowel disease 29 skos:exactMatch MEDGEN:1648318 semapv:UnspecifiedMatching MONDO:0054849 inflammatory bowel disease 29 skos:exactMatch OMIM:618077 inflammatory bowel disease 29 semapv:UnspecifiedMatching MONDO:0054849 inflammatory bowel disease 29 skos:exactMatch UMLS:C4748083 semapv:UnspecifiedMatching MONDO:0054850 ovarian dysgenesis 6 skos:exactMatch DOID:0080498 ovarian dysgenesis 6 semapv:UnspecifiedMatching MONDO:0054850 ovarian dysgenesis 6 skos:exactMatch MEDGEN:1648307 semapv:UnspecifiedMatching MONDO:0054850 ovarian dysgenesis 6 skos:exactMatch OMIM:618078 ovarian dysgenesis 6 semapv:UnspecifiedMatching MONDO:0054850 ovarian dysgenesis 6 skos:exactMatch UMLS:C4748084 semapv:UnspecifiedMatching MONDO:0054852 peeling skin syndrome 6 skos:exactMatch DOID:0070525 peeling skin syndrome 6 semapv:UnspecifiedMatching MONDO:0054852 peeling skin syndrome 6 skos:exactMatch MEDGEN:1648406 semapv:UnspecifiedMatching MONDO:0054852 peeling skin syndrome 6 skos:exactMatch OMIM:618084 peeling skin syndrome 6 semapv:UnspecifiedMatching MONDO:0054852 peeling skin syndrome 6 skos:exactMatch UMLS:C4748093 semapv:UnspecifiedMatching MONDO:0054860 hearing loss, autosomal recessive 110 skos:exactMatch DOID:0111644 autosomal recessive nonsyndromic deafness 110 semapv:UnspecifiedMatching MONDO:0054860 hearing loss, autosomal recessive 110 skos:exactMatch MEDGEN:1648377 semapv:UnspecifiedMatching MONDO:0054860 hearing loss, autosomal recessive 110 skos:exactMatch OMIM:618094 deafness, autosomal recessive 110 semapv:UnspecifiedMatching MONDO:0054860 hearing loss, autosomal recessive 110 skos:exactMatch UMLS:C4748162 semapv:UnspecifiedMatching MONDO:0054861 intellectual disability, autosomal recessive 63 skos:exactMatch DOID:0081224 autosomal recessive intellectual developmental disorder 63 semapv:UnspecifiedMatching MONDO:0054861 intellectual disability, autosomal recessive 63 skos:exactMatch MEDGEN:1648348 semapv:UnspecifiedMatching MONDO:0054861 intellectual disability, autosomal recessive 63 skos:exactMatch OMIM:618095 intellectual developmental disorder, autosomal recessive 63 semapv:UnspecifiedMatching MONDO:0054861 intellectual disability, autosomal recessive 63 skos:exactMatch UMLS:C4748167 semapv:UnspecifiedMatching MONDO:0054862 premature ovarian failure 15 skos:exactMatch DOID:0080872 primary ovarian insufficiency 15 semapv:UnspecifiedMatching MONDO:0054862 premature ovarian failure 15 skos:exactMatch MEDGEN:1648369 semapv:UnspecifiedMatching MONDO:0054862 premature ovarian failure 15 skos:exactMatch OMIM:618096 premature ovarian failure 15 semapv:UnspecifiedMatching MONDO:0054862 premature ovarian failure 15 skos:exactMatch UMLS:C4748170 semapv:UnspecifiedMatching MONDO:0054865 encephalopathy due to mitochondrial and peroxisomal fission defect skos:exactMatch MEDGEN:1814479 semapv:UnspecifiedMatching MONDO:0054865 encephalopathy due to mitochondrial and peroxisomal fission defect skos:exactMatch OMIMPS:614388 Encephalopathy due to defective mitochondrial and peroxisomal fission semapv:UnspecifiedMatching MONDO:0054865 encephalopathy due to mitochondrial and peroxisomal fission defect skos:exactMatch Orphanet:527276 Encephalopathy due to mitochondrial and peroxisomal fission defect semapv:UnspecifiedMatching MONDO:0054865 encephalopathy due to mitochondrial and peroxisomal fission defect skos:exactMatch UMLS:C5681458 semapv:UnspecifiedMatching MONDO:0054866 sudden arrhythmia death syndrome skos:exactMatch MEDGEN:439428 semapv:UnspecifiedMatching MONDO:0054866 sudden arrhythmia death syndrome skos:exactMatch SCTID:735686002 semapv:UnspecifiedMatching MONDO:0054866 sudden arrhythmia death syndrome skos:exactMatch UMLS:C2721586 semapv:UnspecifiedMatching MONDO:0054866 sudden arrhythmia death syndrome skos:exactMatch icd11.foundation:1833795233 Sudden arrhythmic death syndrome semapv:UnspecifiedMatching MONDO:0054867 paraomphalocele skos:exactMatch MEDGEN:419800 semapv:UnspecifiedMatching MONDO:0054867 paraomphalocele skos:exactMatch UMLS:C2931431 semapv:UnspecifiedMatching MONDO:0054867 paraomphalocele skos:exactMatch mesh:C537170 semapv:UnspecifiedMatching MONDO:0054868 meconium ileus skos:exactMatch MEDGEN:473705 semapv:UnspecifiedMatching MONDO:0054868 meconium ileus skos:exactMatch NCIT:C98979 Meconium Ileus semapv:UnspecifiedMatching MONDO:0054868 meconium ileus skos:exactMatch SCTID:206523001 semapv:UnspecifiedMatching MONDO:0054868 meconium ileus skos:exactMatch UMLS:C2939175 semapv:UnspecifiedMatching MONDO:0054868 meconium ileus skos:exactMatch mesh:D000074270 semapv:UnspecifiedMatching MONDO:0054869 nondystrophic myotonia skos:exactMatch MEDGEN:419721 semapv:UnspecifiedMatching MONDO:0054869 nondystrophic myotonia skos:exactMatch UMLS:C2931139 semapv:UnspecifiedMatching MONDO:0054869 nondystrophic myotonia skos:exactMatch mesh:C536245 semapv:UnspecifiedMatching MONDO:0056795 X-linked spermatogenic failure 1 skos:exactMatch DOID:0070189 X-linked spermatogenic failure 1 semapv:UnspecifiedMatching MONDO:0056795 X-linked spermatogenic failure 1 skos:exactMatch MEDGEN:235163 semapv:UnspecifiedMatching MONDO:0056795 X-linked spermatogenic failure 1 skos:exactMatch NCIT:C168988 Sertoli Cell-Only Syndrome semapv:UnspecifiedMatching MONDO:0056795 X-linked spermatogenic failure 1 skos:exactMatch OMIM:305700 spermatogenic failure, x-linked, 1 semapv:UnspecifiedMatching MONDO:0056795 X-linked spermatogenic failure 1 skos:exactMatch SCTID:73465006 semapv:UnspecifiedMatching MONDO:0056795 X-linked spermatogenic failure 1 skos:exactMatch UMLS:C1384583 semapv:UnspecifiedMatching MONDO:0056795 X-linked spermatogenic failure 1 skos:exactMatch mesh:D054331 semapv:UnspecifiedMatching MONDO:0056796 obstructive nephropathy skos:exactMatch DOID:0070314 obstructive nephropathy semapv:UnspecifiedMatching MONDO:0056796 obstructive nephropathy skos:exactMatch MEDGEN:508456 semapv:UnspecifiedMatching MONDO:0056796 obstructive nephropathy skos:exactMatch NCIT:C120902 Obstructive Nephropathy semapv:UnspecifiedMatching MONDO:0056796 obstructive nephropathy skos:exactMatch SCTID:86249007 semapv:UnspecifiedMatching MONDO:0056796 obstructive nephropathy skos:exactMatch UMLS:C0149939 semapv:UnspecifiedMatching MONDO:0056796 obstructive nephropathy skos:exactMatch icd11.foundation:848128884 Obstructive nephropathy semapv:UnspecifiedMatching MONDO:0056797 neurodevelopmental disorder with midbrain and hindbrain malformations skos:exactMatch DOID:0080312 neurodevelopmental disorder with midbrain and hindbrain malformations semapv:UnspecifiedMatching MONDO:0056797 neurodevelopmental disorder with midbrain and hindbrain malformations skos:exactMatch MEDGEN:1385580 semapv:UnspecifiedMatching MONDO:0056797 neurodevelopmental disorder with midbrain and hindbrain malformations skos:exactMatch OMIM:617523 neurodevelopmental disorder with midbrain and hindbrain malformations semapv:UnspecifiedMatching MONDO:0056797 neurodevelopmental disorder with midbrain and hindbrain malformations skos:exactMatch UMLS:C4479613 semapv:UnspecifiedMatching MONDO:0056798 disorder of appendix skos:exactMatch DOID:60000 appendix disease semapv:UnspecifiedMatching MONDO:0056798 disorder of appendix skos:exactMatch EFO:0009542 semapv:UnspecifiedMatching MONDO:0056798 disorder of appendix skos:exactMatch ICD10CM:K35-K38 Diseases of appendix (K35-K38) semapv:UnspecifiedMatching MONDO:0056798 disorder of appendix skos:exactMatch MEDGEN:540821 semapv:UnspecifiedMatching MONDO:0056798 disorder of appendix skos:exactMatch SCTID:18526009 semapv:UnspecifiedMatching MONDO:0056798 disorder of appendix skos:exactMatch UMLS:C0267613 semapv:UnspecifiedMatching MONDO:0056799 synovium disorder skos:exactMatch MEDGEN:538212 semapv:UnspecifiedMatching MONDO:0056799 synovium disorder skos:exactMatch SCTID:3519007 semapv:UnspecifiedMatching MONDO:0056799 synovium disorder skos:exactMatch UMLS:C0263945 semapv:UnspecifiedMatching MONDO:0056802 synovial bursa disorder skos:exactMatch MEDGEN:538213 semapv:UnspecifiedMatching MONDO:0056802 synovial bursa disorder skos:exactMatch SCTID:10597006 semapv:UnspecifiedMatching MONDO:0056802 synovial bursa disorder skos:exactMatch UMLS:C0263946 semapv:UnspecifiedMatching MONDO:0056803 sulfur metabolism disease skos:exactMatch MEDGEN:688004 semapv:UnspecifiedMatching MONDO:0056803 sulfur metabolism disease skos:exactMatch SCTID:123809005 semapv:UnspecifiedMatching MONDO:0056803 sulfur metabolism disease skos:exactMatch UMLS:C1263724 semapv:UnspecifiedMatching MONDO:0056804 benign neoplasm of peripheral nervous system skos:exactMatch DOID:0080320 peripheral nervous system benign neoplasm semapv:UnspecifiedMatching MONDO:0056804 benign neoplasm of peripheral nervous system skos:exactMatch MEDGEN:199653 semapv:UnspecifiedMatching MONDO:0056804 benign neoplasm of peripheral nervous system skos:exactMatch UMLS:C0751427 semapv:UnspecifiedMatching MONDO:0056805 benign peripheral nerve granular cell tumor skos:exactMatch MEDGEN:272363 semapv:UnspecifiedMatching MONDO:0056805 benign peripheral nerve granular cell tumor skos:exactMatch NCIT:C5502 Benign Peripheral Nerve Granular Cell Tumor semapv:UnspecifiedMatching MONDO:0056805 benign peripheral nerve granular cell tumor skos:exactMatch UMLS:C1332530 semapv:UnspecifiedMatching MONDO:0056806 non-small cell squamous lung carcinoma skos:exactMatch DOID:0080521 lung non-squamous non-small cell carcinoma semapv:UnspecifiedMatching MONDO:0056806 non-small cell squamous lung carcinoma skos:exactMatch MEDGEN:1383559 semapv:UnspecifiedMatching MONDO:0056806 non-small cell squamous lung carcinoma skos:exactMatch NCIT:C133254 Lung Non-Small Cell Squamous Carcinoma semapv:UnspecifiedMatching MONDO:0056806 non-small cell squamous lung carcinoma skos:exactMatch SCTID:723301009 semapv:UnspecifiedMatching MONDO:0056806 non-small cell squamous lung carcinoma skos:exactMatch UMLS:C4509816 semapv:UnspecifiedMatching MONDO:0056813 hormone-resistant breast carcinoma skos:exactMatch MEDGEN:1631521 semapv:UnspecifiedMatching MONDO:0056813 hormone-resistant breast carcinoma skos:exactMatch NCIT:C114932 Hormone-Resistant Breast Carcinoma semapv:UnspecifiedMatching MONDO:0056813 hormone-resistant breast carcinoma skos:exactMatch UMLS:C4049259 semapv:UnspecifiedMatching MONDO:0056814 hormone-resistant prostate carcinoma skos:exactMatch MEDGEN:858471 semapv:UnspecifiedMatching MONDO:0056814 hormone-resistant prostate carcinoma skos:exactMatch NCIT:C114933 Hormone-Resistant Prostate Carcinoma semapv:UnspecifiedMatching MONDO:0056814 hormone-resistant prostate carcinoma skos:exactMatch UMLS:C3898877 semapv:UnspecifiedMatching MONDO:0056815 liver adenosquamous carcinoma skos:exactMatch MEDGEN:858180 semapv:UnspecifiedMatching MONDO:0056815 liver adenosquamous carcinoma skos:exactMatch NCIT:C118630 Liver Adenosquamous Carcinoma semapv:UnspecifiedMatching MONDO:0056815 liver adenosquamous carcinoma skos:exactMatch UMLS:C3898586 semapv:UnspecifiedMatching MONDO:0056816 vulvar neuroendocrine carcinoma skos:exactMatch MEDGEN:925534 semapv:UnspecifiedMatching MONDO:0056816 vulvar neuroendocrine carcinoma skos:exactMatch NCIT:C128243 Vulvar Neuroendocrine Carcinoma semapv:UnspecifiedMatching MONDO:0056816 vulvar neuroendocrine carcinoma skos:exactMatch UMLS:C4288002 semapv:UnspecifiedMatching MONDO:0056817 rectal adenosquamous carcinoma skos:exactMatch MEDGEN:313658 semapv:UnspecifiedMatching MONDO:0056817 rectal adenosquamous carcinoma skos:exactMatch NCIT:C43594 Rectal Adenosquamous Carcinoma semapv:UnspecifiedMatching MONDO:0056817 rectal adenosquamous carcinoma skos:exactMatch UMLS:C1709865 semapv:UnspecifiedMatching MONDO:0056818 skin adenosquamous carcinoma skos:exactMatch MEDGEN:313707 semapv:UnspecifiedMatching MONDO:0056818 skin adenosquamous carcinoma skos:exactMatch NCIT:C54250 Skin Adenosquamous Carcinoma semapv:UnspecifiedMatching MONDO:0056818 skin adenosquamous carcinoma skos:exactMatch UMLS:C1710103 semapv:UnspecifiedMatching MONDO:0056819 nasal cavity and paranasal sinus carcinoma skos:exactMatch MEDGEN:328032 semapv:UnspecifiedMatching MONDO:0056819 nasal cavity and paranasal sinus carcinoma skos:exactMatch NCIT:C54293 Sinonasal Carcinoma semapv:UnspecifiedMatching MONDO:0056819 nasal cavity and paranasal sinus carcinoma skos:exactMatch UMLS:C1710095 semapv:UnspecifiedMatching MONDO:0056820 nasal cavity and paranasal sinus neoplasm skos:exactMatch MEDGEN:235362 semapv:UnspecifiedMatching MONDO:0056820 nasal cavity and paranasal sinus neoplasm skos:exactMatch NCIT:C7336 Sinonasal Neoplasm semapv:UnspecifiedMatching MONDO:0056820 nasal cavity and paranasal sinus neoplasm skos:exactMatch UMLS:C1334925 semapv:UnspecifiedMatching MONDO:0056822 amyotonia congenita skos:exactMatch MEDGEN:8042 semapv:UnspecifiedMatching MONDO:0056822 amyotonia congenita skos:exactMatch OMIM:205000 amyotonia congenita semapv:UnspecifiedMatching MONDO:0056822 amyotonia congenita skos:exactMatch UMLS:C0002735 semapv:UnspecifiedMatching MONDO:0060455 X-linked congenital hemolytic anemia skos:exactMatch DOID:0111846 X-linked congenital hemolytic anemia semapv:UnspecifiedMatching MONDO:0060455 X-linked congenital hemolytic anemia skos:exactMatch MEDGEN:1648376 semapv:UnspecifiedMatching MONDO:0060455 X-linked congenital hemolytic anemia skos:exactMatch OMIM:301015 hemolytic anemia, congenital, X-linked semapv:UnspecifiedMatching MONDO:0060455 X-linked congenital hemolytic anemia skos:exactMatch UMLS:C4746970 semapv:UnspecifiedMatching MONDO:0060456 cerebral sclerosis, diffuse, scholz type skos:exactMatch MEDGEN:335049 semapv:UnspecifiedMatching MONDO:0060456 cerebral sclerosis, diffuse, scholz type skos:exactMatch OMIM:302700 cerebral sclerosis, diffuse, scholz type semapv:UnspecifiedMatching MONDO:0060456 cerebral sclerosis, diffuse, scholz type skos:exactMatch UMLS:C1844884 semapv:UnspecifiedMatching MONDO:0060456 cerebral sclerosis, diffuse, scholz type skos:exactMatch mesh:C564449 semapv:UnspecifiedMatching MONDO:0060457 autoinflammation with arthritis and dyskeratosis skos:exactMatch MEDGEN:1380109 semapv:UnspecifiedMatching MONDO:0060457 autoinflammation with arthritis and dyskeratosis skos:exactMatch OMIM:617388 autoinflammation with arthritis and dyskeratosis semapv:UnspecifiedMatching MONDO:0060457 autoinflammation with arthritis and dyskeratosis skos:exactMatch UMLS:C4479278 semapv:UnspecifiedMatching MONDO:0060486 arthrogryposis multiplex congenita 1, neurogenic, with myelin defect skos:exactMatch DOID:0080978 arthrogryposis multiplex congenita-1 semapv:UnspecifiedMatching MONDO:0060486 arthrogryposis multiplex congenita 1, neurogenic, with myelin defect skos:exactMatch MEDGEN:1373185 semapv:UnspecifiedMatching MONDO:0060486 arthrogryposis multiplex congenita 1, neurogenic, with myelin defect skos:exactMatch OMIM:617468 arthrogryposis multiplex congenita 1, neurogenic, with myelin defect semapv:UnspecifiedMatching MONDO:0060486 arthrogryposis multiplex congenita 1, neurogenic, with myelin defect skos:exactMatch UMLS:C4479539 semapv:UnspecifiedMatching MONDO:0060489 46,XX sex reversal 4 skos:exactMatch DOID:0111764 46,XX sex reversal 4 semapv:UnspecifiedMatching MONDO:0060489 46,XX sex reversal 4 skos:exactMatch MEDGEN:1373282 semapv:UnspecifiedMatching MONDO:0060489 46,XX sex reversal 4 skos:exactMatch OMIM:617480 46,xx sex reversal 4 semapv:UnspecifiedMatching MONDO:0060489 46,XX sex reversal 4 skos:exactMatch UMLS:C4479552 semapv:UnspecifiedMatching MONDO:0060490 neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies skos:exactMatch MEDGEN:1380860 semapv:UnspecifiedMatching MONDO:0060490 neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies skos:exactMatch OMIM:617481 neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies semapv:UnspecifiedMatching MONDO:0060490 neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies skos:exactMatch Orphanet:544469 PRUNE1-related neurological syndrome semapv:UnspecifiedMatching MONDO:0060490 neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies skos:exactMatch UMLS:C4479566 semapv:UnspecifiedMatching MONDO:0060491 neurodevelopmental disorder with involuntary movements skos:broadMatch ICD10CM:F84.8 Other pervasive developmental disorders semapv:UnspecifiedMatching MONDO:0060491 neurodevelopmental disorder with involuntary movements skos:exactMatch DOID:0112276 neurodevelopmental disorder with involuntary movements semapv:UnspecifiedMatching MONDO:0060491 neurodevelopmental disorder with involuntary movements skos:exactMatch MEDGEN:1374697 semapv:UnspecifiedMatching MONDO:0060491 neurodevelopmental disorder with involuntary movements skos:exactMatch MEDGEN:1830103 semapv:UnspecifiedMatching MONDO:0060491 neurodevelopmental disorder with involuntary movements skos:exactMatch OMIM:617493 neurodevelopmental disorder with involuntary movements semapv:UnspecifiedMatching MONDO:0060491 neurodevelopmental disorder with involuntary movements skos:exactMatch Orphanet:592564 GNAO1-related developmental delay-seizures-movement disorder spectrum semapv:UnspecifiedMatching MONDO:0060491 neurodevelopmental disorder with involuntary movements skos:exactMatch UMLS:C4479569 semapv:UnspecifiedMatching MONDO:0060491 neurodevelopmental disorder with involuntary movements skos:exactMatch UMLS:C5680303 semapv:UnspecifiedMatching MONDO:0060496 neurodevelopmental disorder with hypotonia, neuropathy, and deafness skos:exactMatch MEDGEN:1382171 semapv:UnspecifiedMatching MONDO:0060496 neurodevelopmental disorder with hypotonia, neuropathy, and deafness skos:exactMatch OMIM:617519 neurodevelopmental disorder with hypotonia, neuropathy, and deafness semapv:UnspecifiedMatching MONDO:0060496 neurodevelopmental disorder with hypotonia, neuropathy, and deafness skos:exactMatch UMLS:C4479603 semapv:UnspecifiedMatching MONDO:0060502 neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies skos:exactMatch MEDGEN:1380260 semapv:UnspecifiedMatching MONDO:0060502 neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies skos:exactMatch OMIM:617527 neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies semapv:UnspecifiedMatching MONDO:0060502 neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies skos:exactMatch Orphanet:521426 PLAA-associated neurodevelopmental disorder semapv:UnspecifiedMatching MONDO:0060502 neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies skos:exactMatch UMLS:C4479631 semapv:UnspecifiedMatching MONDO:0060507 retinal dystrophy with or without macular staphyloma skos:exactMatch MEDGEN:1381980 semapv:UnspecifiedMatching MONDO:0060507 retinal dystrophy with or without macular staphyloma skos:exactMatch OMIM:617547 retinal dystrophy with or without macular staphyloma semapv:UnspecifiedMatching MONDO:0060507 retinal dystrophy with or without macular staphyloma skos:exactMatch Orphanet:653709 Cone rod dystrophy-short stature syndrome semapv:UnspecifiedMatching MONDO:0060507 retinal dystrophy with or without macular staphyloma skos:exactMatch UMLS:C4479651 semapv:UnspecifiedMatching MONDO:0060510 Cohen-Gibson syndrome skos:exactMatch MEDGEN:1386939 semapv:UnspecifiedMatching MONDO:0060510 Cohen-Gibson syndrome skos:exactMatch OMIM:617561 cohen-gibson syndrome semapv:UnspecifiedMatching MONDO:0060510 Cohen-Gibson syndrome skos:exactMatch Orphanet:659396 Cohen-Gibson syndrome semapv:UnspecifiedMatching MONDO:0060510 Cohen-Gibson syndrome skos:exactMatch UMLS:C4479654 semapv:UnspecifiedMatching MONDO:0060527 maleylacetoacetate isomerase deficiency skos:exactMatch MEDGEN:713903 semapv:UnspecifiedMatching MONDO:0060527 maleylacetoacetate isomerase deficiency skos:exactMatch OMIM:617596 maleylacetoacetate isomerase deficiency semapv:UnspecifiedMatching MONDO:0060527 maleylacetoacetate isomerase deficiency skos:exactMatch UMLS:C1291607 semapv:UnspecifiedMatching MONDO:0060532 congenital heart defects and skeletal malformations syndrome skos:exactMatch MEDGEN:1618340 semapv:UnspecifiedMatching MONDO:0060532 congenital heart defects and skeletal malformations syndrome skos:exactMatch OMIM:617602 congenital heart defects and skeletal malformations syndrome semapv:UnspecifiedMatching MONDO:0060532 congenital heart defects and skeletal malformations syndrome skos:exactMatch Orphanet:643503 Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome semapv:UnspecifiedMatching MONDO:0060532 congenital heart defects and skeletal malformations syndrome skos:exactMatch UMLS:C4539857 semapv:UnspecifiedMatching MONDO:0060533 microcephaly, short stature, and limb abnormalities skos:exactMatch DOID:0081431 microcephaly, short stature, and limb abnormalities semapv:UnspecifiedMatching MONDO:0060533 microcephaly, short stature, and limb abnormalities skos:exactMatch MEDGEN:1613834 semapv:UnspecifiedMatching MONDO:0060533 microcephaly, short stature, and limb abnormalities skos:exactMatch OMIM:617604 microcephaly, short stature, and limb abnormalities semapv:UnspecifiedMatching MONDO:0060533 microcephaly, short stature, and limb abnormalities skos:exactMatch Orphanet:572773 Microcephaly-short stature-limb abnormalities syndrome semapv:UnspecifiedMatching MONDO:0060533 microcephaly, short stature, and limb abnormalities skos:exactMatch UMLS:C4539873 semapv:UnspecifiedMatching MONDO:0060549 congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay skos:exactMatch DOID:0112359 congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay semapv:UnspecifiedMatching MONDO:0060549 congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay skos:exactMatch MEDGEN:1612119 semapv:UnspecifiedMatching MONDO:0060549 congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay skos:exactMatch OMIM:617641 congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay semapv:UnspecifiedMatching MONDO:0060549 congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay skos:exactMatch Orphanet:656130 PBX1-related congenital anomalies of kidney-urinary tract syndrome semapv:UnspecifiedMatching MONDO:0060549 congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay skos:exactMatch UMLS:C4539968 semapv:UnspecifiedMatching MONDO:0060550 polydactyly, postaxial, type a7 skos:exactMatch MEDGEN:1627079 semapv:UnspecifiedMatching MONDO:0060550 polydactyly, postaxial, type a7 skos:exactMatch OMIM:617642 polydactyly, postaxial, type a7 semapv:UnspecifiedMatching MONDO:0060550 polydactyly, postaxial, type a7 skos:exactMatch UMLS:C4539976 semapv:UnspecifiedMatching MONDO:0060551 cerebellar atrophy, developmental delay, and seizures skos:exactMatch MEDGEN:1626119 semapv:UnspecifiedMatching MONDO:0060551 cerebellar atrophy, developmental delay, and seizures skos:exactMatch OMIM:617643 cerebellar atrophy, developmental delay, and seizures semapv:UnspecifiedMatching MONDO:0060551 cerebellar atrophy, developmental delay, and seizures skos:exactMatch UMLS:C4539985 semapv:UnspecifiedMatching MONDO:0060554 vertebral, cardiac, renal, and limb defects syndrome 1 skos:exactMatch MEDGEN:1621146 semapv:UnspecifiedMatching MONDO:0060554 vertebral, cardiac, renal, and limb defects syndrome 1 skos:exactMatch OMIM:617660 vertebral, cardiac, renal, and limb defects syndrome 1 semapv:UnspecifiedMatching MONDO:0060554 vertebral, cardiac, renal, and limb defects syndrome 1 skos:exactMatch UMLS:C4540004 semapv:UnspecifiedMatching MONDO:0060555 vertebral, cardiac, renal, and limb defects syndrome 2 skos:exactMatch MEDGEN:1624065 semapv:UnspecifiedMatching MONDO:0060555 vertebral, cardiac, renal, and limb defects syndrome 2 skos:exactMatch OMIM:617661 vertebral, cardiac, renal, and limb defects syndrome 2 semapv:UnspecifiedMatching MONDO:0060555 vertebral, cardiac, renal, and limb defects syndrome 2 skos:exactMatch UMLS:C4540014 semapv:UnspecifiedMatching MONDO:0060556 joint laxity, short stature, and myopia skos:exactMatch MEDGEN:1621331 semapv:UnspecifiedMatching MONDO:0060556 joint laxity, short stature, and myopia skos:exactMatch OMIM:617662 joint laxity, short stature, and myopia semapv:UnspecifiedMatching MONDO:0060556 joint laxity, short stature, and myopia skos:exactMatch Orphanet:527450 Severe myopia-generalized joint laxity-short stature syndrome semapv:UnspecifiedMatching MONDO:0060556 joint laxity, short stature, and myopia skos:exactMatch UMLS:C4540020 semapv:UnspecifiedMatching MONDO:0060562 encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities skos:exactMatch MEDGEN:1624694 semapv:UnspecifiedMatching MONDO:0060562 encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities skos:exactMatch OMIM:617668 encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities semapv:UnspecifiedMatching MONDO:0060562 encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities skos:exactMatch Orphanet:447795 Lipoyl transferase 2 deficiency semapv:UnspecifiedMatching MONDO:0060562 encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities skos:exactMatch UMLS:C4540052 semapv:UnspecifiedMatching MONDO:0060564 HELIX syndrome skos:exactMatch MEDGEN:1621482 semapv:UnspecifiedMatching MONDO:0060564 HELIX syndrome skos:exactMatch OMIM:617671 HELIX syndrome semapv:UnspecifiedMatching MONDO:0060564 HELIX syndrome skos:exactMatch Orphanet:528105 Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome semapv:UnspecifiedMatching MONDO:0060564 HELIX syndrome skos:exactMatch UMLS:C4522164 semapv:UnspecifiedMatching MONDO:0060568 Pilarowski-Bjornsson syndrome skos:exactMatch MEDGEN:1619150 semapv:UnspecifiedMatching MONDO:0060568 Pilarowski-Bjornsson syndrome skos:exactMatch OMIM:617682 pilarowski-bjornsson syndrome semapv:UnspecifiedMatching MONDO:0060568 Pilarowski-Bjornsson syndrome skos:exactMatch Orphanet:529965 Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome semapv:UnspecifiedMatching MONDO:0060568 Pilarowski-Bjornsson syndrome skos:exactMatch UMLS:C4540131 semapv:UnspecifiedMatching MONDO:0060577 neurodevelopmental disorder with microcephaly, ataxia, and seizures skos:exactMatch MEDGEN:1613354 semapv:UnspecifiedMatching MONDO:0060577 neurodevelopmental disorder with microcephaly, ataxia, and seizures skos:exactMatch OMIM:617709 neurodevelopmental disorder with microcephaly, ataxia, and seizures semapv:UnspecifiedMatching MONDO:0060577 neurodevelopmental disorder with microcephaly, ataxia, and seizures skos:exactMatch UMLS:C4540188 semapv:UnspecifiedMatching MONDO:0060578 neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures skos:exactMatch MEDGEN:1619876 semapv:UnspecifiedMatching MONDO:0060578 neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures skos:exactMatch OMIM:617710 neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures semapv:UnspecifiedMatching MONDO:0060578 neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures skos:exactMatch Orphanet:572798 WARS2-related combined oxidative phosphorylation defect semapv:UnspecifiedMatching MONDO:0060578 neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures skos:exactMatch UMLS:C4540192 semapv:UnspecifiedMatching MONDO:0060582 auditory neuropathy-optic atrophy syndrome skos:exactMatch MEDGEN:1623572 semapv:UnspecifiedMatching MONDO:0060582 auditory neuropathy-optic atrophy syndrome skos:exactMatch OMIM:617717 auditory neuropathy and optic atrophy semapv:UnspecifiedMatching MONDO:0060582 auditory neuropathy-optic atrophy syndrome skos:exactMatch Orphanet:542585 Auditory neuropathy-optic atrophy syndrome semapv:UnspecifiedMatching MONDO:0060582 auditory neuropathy-optic atrophy syndrome skos:exactMatch UMLS:C4521678 semapv:UnspecifiedMatching MONDO:0060583 platelet abnormalities with eosinophilia and immune-mediated inflammatory disease skos:exactMatch DOID:0112004 immunodeficiency 71 semapv:UnspecifiedMatching MONDO:0060583 platelet abnormalities with eosinophilia and immune-mediated inflammatory disease skos:exactMatch MEDGEN:1618052 semapv:UnspecifiedMatching MONDO:0060583 platelet abnormalities with eosinophilia and immune-mediated inflammatory disease skos:exactMatch OMIM:617718 immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia semapv:UnspecifiedMatching MONDO:0060583 platelet abnormalities with eosinophilia and immune-mediated inflammatory disease skos:exactMatch UMLS:C4540232 semapv:UnspecifiedMatching MONDO:0060585 neuronopathy, distal hereditary motor, type 9 skos:exactMatch DOID:0111212 autosomal dominant distal hereditary motor neuronopathy 9 semapv:UnspecifiedMatching MONDO:0060585 neuronopathy, distal hereditary motor, type 9 skos:exactMatch MEDGEN:1617571 semapv:UnspecifiedMatching MONDO:0060585 neuronopathy, distal hereditary motor, type 9 skos:exactMatch OMIM:617721 neuronopathy, distal hereditary motor, autosomal dominant 9 semapv:UnspecifiedMatching MONDO:0060585 neuronopathy, distal hereditary motor, type 9 skos:exactMatch UMLS:C4540265 semapv:UnspecifiedMatching MONDO:0060589 facial palsy, congenital, with ptosis and velopharyngeal dysfunction skos:exactMatch MEDGEN:1623077 semapv:UnspecifiedMatching MONDO:0060589 facial palsy, congenital, with ptosis and velopharyngeal dysfunction skos:exactMatch OMIM:617732 facial palsy, congenital, with ptosis and velopharyngeal dysfunction semapv:UnspecifiedMatching MONDO:0060589 facial palsy, congenital, with ptosis and velopharyngeal dysfunction skos:exactMatch UMLS:C4540277 semapv:UnspecifiedMatching MONDO:0060591 immunodeficiency, developmental delay, and hypohomocysteinemia skos:exactMatch MEDGEN:1616061 semapv:UnspecifiedMatching MONDO:0060591 immunodeficiency, developmental delay, and hypohomocysteinemia skos:exactMatch OMIM:617744 immunodeficiency, developmental delay, and hypohomocysteinemia semapv:UnspecifiedMatching MONDO:0060591 immunodeficiency, developmental delay, and hypohomocysteinemia skos:exactMatch UMLS:C4540293 semapv:UnspecifiedMatching MONDO:0060592 Sweeney-Cox syndrome skos:exactMatch DOID:0080538 Sweeney-Cox syndrome semapv:UnspecifiedMatching MONDO:0060592 Sweeney-Cox syndrome skos:exactMatch MEDGEN:1625659 semapv:UnspecifiedMatching MONDO:0060592 Sweeney-Cox syndrome skos:exactMatch OMIM:617746 sweeney-cox syndrome semapv:UnspecifiedMatching MONDO:0060592 Sweeney-Cox syndrome skos:exactMatch UMLS:C4540299 semapv:UnspecifiedMatching MONDO:0060593 obsolete actn3 deficiency skos:exactMatch OMIM:617749 actn3 deficiency semapv:UnspecifiedMatching MONDO:0060596 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies skos:exactMatch DOID:0070514 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies semapv:UnspecifiedMatching MONDO:0060596 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies skos:exactMatch MEDGEN:1627464 semapv:UnspecifiedMatching MONDO:0060596 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies skos:exactMatch OMIM:617755 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies semapv:UnspecifiedMatching MONDO:0060596 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies skos:exactMatch Orphanet:686482 BPTF-related intellectual disability-facial dysmorphism-skeletal anomalies syndrome semapv:UnspecifiedMatching MONDO:0060596 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies skos:exactMatch UMLS:C4540327 semapv:UnspecifiedMatching MONDO:0060611 combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia skos:exactMatch MEDGEN:1615364 semapv:UnspecifiedMatching MONDO:0060611 combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia skos:exactMatch OMIM:617780 combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia semapv:UnspecifiedMatching MONDO:0060611 combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia skos:exactMatch Orphanet:658813 Combined immunodeficiency-megaloblastic anemia due to methylenetetrahydrofolate dehydrogenase 1 deficiency semapv:UnspecifiedMatching MONDO:0060611 combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia skos:exactMatch UMLS:C4540434 semapv:UnspecifiedMatching MONDO:0060621 neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy skos:exactMatch EFO:0009644 semapv:UnspecifiedMatching MONDO:0060621 neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy skos:exactMatch MEDGEN:1615361 semapv:UnspecifiedMatching MONDO:0060621 neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy skos:exactMatch OMIM:617802 neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy semapv:UnspecifiedMatching MONDO:0060621 neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy skos:exactMatch UMLS:C4540493 semapv:UnspecifiedMatching MONDO:0060622 neurodevelopmental disorder with severe motor impairment and absent language skos:exactMatch MEDGEN:1622162 semapv:UnspecifiedMatching MONDO:0060622 neurodevelopmental disorder with severe motor impairment and absent language skos:exactMatch OMIM:617804 neurodevelopmental disorder with variable motor and language impairment semapv:UnspecifiedMatching MONDO:0060622 neurodevelopmental disorder with severe motor impairment and absent language skos:exactMatch Orphanet:647788 Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome semapv:UnspecifiedMatching MONDO:0060622 neurodevelopmental disorder with severe motor impairment and absent language skos:exactMatch UMLS:C4540496 semapv:UnspecifiedMatching MONDO:0060624 neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter skos:exactMatch MEDGEN:1621102 semapv:UnspecifiedMatching MONDO:0060624 neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter skos:exactMatch OMIM:617807 neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter semapv:UnspecifiedMatching MONDO:0060624 neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter skos:exactMatch UMLS:C4540498 semapv:UnspecifiedMatching MONDO:0060627 glycosylphosphatidylinositol biosynthesis defect 15 skos:exactMatch MEDGEN:1615160 semapv:UnspecifiedMatching MONDO:0060627 glycosylphosphatidylinositol biosynthesis defect 15 skos:exactMatch OMIM:617810 glycosylphosphatidylinositol biosynthesis defect 15 semapv:UnspecifiedMatching MONDO:0060627 glycosylphosphatidylinositol biosynthesis defect 15 skos:exactMatch Orphanet:529665 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome semapv:UnspecifiedMatching MONDO:0060627 glycosylphosphatidylinositol biosynthesis defect 15 skos:exactMatch UMLS:C4540520 semapv:UnspecifiedMatching MONDO:0060629 neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive skos:exactMatch EFO:0009300 semapv:UnspecifiedMatching MONDO:0060629 neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive skos:exactMatch MEDGEN:1646665 semapv:UnspecifiedMatching MONDO:0060629 neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive skos:exactMatch OMIM:617820 neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive semapv:UnspecifiedMatching MONDO:0060629 neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive skos:exactMatch UMLS:C4693325 semapv:UnspecifiedMatching MONDO:0060631 Alkuraya-Kucinskas syndrome skos:exactMatch DOID:0111555 Alkuraya-Kucinskas syndrome semapv:UnspecifiedMatching MONDO:0060631 Alkuraya-Kucinskas syndrome skos:exactMatch MEDGEN:1634304 semapv:UnspecifiedMatching MONDO:0060631 Alkuraya-Kucinskas syndrome skos:exactMatch OMIM:617822 alkuraya-kucinskas syndrome semapv:UnspecifiedMatching MONDO:0060631 Alkuraya-Kucinskas syndrome skos:exactMatch Orphanet:610569 KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome semapv:UnspecifiedMatching MONDO:0060631 Alkuraya-Kucinskas syndrome skos:exactMatch UMLS:C4693347 semapv:UnspecifiedMatching MONDO:0060640 neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy skos:exactMatch DOID:0060934 neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy semapv:UnspecifiedMatching MONDO:0060640 neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy skos:exactMatch MEDGEN:1637443 semapv:UnspecifiedMatching MONDO:0060640 neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy skos:exactMatch OMIM:617862 neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy semapv:UnspecifiedMatching MONDO:0060640 neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy skos:exactMatch UMLS:C4693390 semapv:UnspecifiedMatching MONDO:0060641 neurodevelopmental disorder with or without seizures and gait abnormalities skos:exactMatch MEDGEN:1645968 semapv:UnspecifiedMatching MONDO:0060641 neurodevelopmental disorder with or without seizures and gait abnormalities skos:exactMatch OMIM:617864 neurodevelopmental disorder with or without seizures and gait abnormalities semapv:UnspecifiedMatching MONDO:0060641 neurodevelopmental disorder with or without seizures and gait abnormalities skos:exactMatch UMLS:C4693391 semapv:UnspecifiedMatching MONDO:0060642 neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features skos:exactMatch MEDGEN:1647077 semapv:UnspecifiedMatching MONDO:0060642 neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features skos:exactMatch OMIM:617865 neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features semapv:UnspecifiedMatching MONDO:0060642 neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features skos:exactMatch UMLS:C4693405 semapv:UnspecifiedMatching MONDO:0060650 Leber congenital amaurosis with early-onset deafness skos:exactMatch DOID:0112240 Leber congenital amaurosis with early-onset deafness semapv:UnspecifiedMatching MONDO:0060650 Leber congenital amaurosis with early-onset deafness skos:exactMatch MEDGEN:1646810 semapv:UnspecifiedMatching MONDO:0060650 Leber congenital amaurosis with early-onset deafness skos:exactMatch OMIM:617879 leber congenital amaurosis with early-onset deafness semapv:UnspecifiedMatching MONDO:0060650 Leber congenital amaurosis with early-onset deafness skos:exactMatch UMLS:C4693498 semapv:UnspecifiedMatching MONDO:0060659 neurodevelopmental disorder with poor language and loss of hand skills skos:exactMatch MEDGEN:1637031 semapv:UnspecifiedMatching MONDO:0060659 neurodevelopmental disorder with poor language and loss of hand skills skos:exactMatch OMIM:617903 neurodevelopmental disorder with poor language and loss of hand skills semapv:UnspecifiedMatching MONDO:0060659 neurodevelopmental disorder with poor language and loss of hand skills skos:exactMatch UMLS:C4693546 semapv:UnspecifiedMatching MONDO:0060662 Diamond-Blackfan anemia-like skos:exactMatch MEDGEN:1633207 semapv:UnspecifiedMatching MONDO:0060662 Diamond-Blackfan anemia-like skos:exactMatch OMIM:617911 diamond-blackfan anemia-like semapv:UnspecifiedMatching MONDO:0060662 Diamond-Blackfan anemia-like skos:exactMatch UMLS:C4693556 semapv:UnspecifiedMatching MONDO:0060663 congenital heart defects, multiple types, 5 skos:exactMatch MEDGEN:1636547 semapv:UnspecifiedMatching MONDO:0060663 congenital heart defects, multiple types, 5 skos:exactMatch OMIM:617912 congenital heart defects, multiple types, 5 semapv:UnspecifiedMatching MONDO:0060663 congenital heart defects, multiple types, 5 skos:exactMatch UMLS:C4693563 semapv:UnspecifiedMatching MONDO:0060664 neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities skos:exactMatch DOID:0081263 neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities semapv:UnspecifiedMatching MONDO:0060664 neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities skos:exactMatch MEDGEN:1634867 semapv:UnspecifiedMatching MONDO:0060664 neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities skos:exactMatch OMIM:617913 neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities semapv:UnspecifiedMatching MONDO:0060664 neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities skos:exactMatch UMLS:C4693567 semapv:UnspecifiedMatching MONDO:0060666 hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome skos:exactMatch MEDGEN:1647427 semapv:UnspecifiedMatching MONDO:0060666 hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome skos:exactMatch OMIM:617915 hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome semapv:UnspecifiedMatching MONDO:0060666 hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome skos:exactMatch UMLS:C4693578 semapv:UnspecifiedMatching MONDO:0060670 amyotrophic lateral sclerosis, susceptibility to, 25 skos:exactMatch DOID:0081379 amyotrophic lateral sclerosis type 25 semapv:UnspecifiedMatching MONDO:0060670 amyotrophic lateral sclerosis, susceptibility to, 25 skos:exactMatch MEDGEN:1633917 semapv:UnspecifiedMatching MONDO:0060670 amyotrophic lateral sclerosis, susceptibility to, 25 skos:exactMatch OMIM:617921 amyotrophic lateral sclerosis, susceptibility to, 25 semapv:UnspecifiedMatching MONDO:0060670 amyotrophic lateral sclerosis, susceptibility to, 25 skos:exactMatch UMLS:C4693609 semapv:UnspecifiedMatching MONDO:0060671 epilepsy, juvenile myoclonic, susceptibility to, 10 skos:exactMatch DOID:0111325 juvenile myoclonic epilepsy 10 semapv:UnspecifiedMatching MONDO:0060671 epilepsy, juvenile myoclonic, susceptibility to, 10 skos:exactMatch MEDGEN:1647781 semapv:UnspecifiedMatching MONDO:0060671 epilepsy, juvenile myoclonic, susceptibility to, 10 skos:exactMatch OMIM:617924 epilepsy, juvenile myoclonic, susceptibility to, 10 semapv:UnspecifiedMatching MONDO:0060671 epilepsy, juvenile myoclonic, susceptibility to, 10 skos:exactMatch UMLS:C4693613 semapv:UnspecifiedMatching MONDO:0060677 chromosome 1p35 deletion syndrome skos:exactMatch MEDGEN:1632676 semapv:UnspecifiedMatching MONDO:0060677 chromosome 1p35 deletion syndrome skos:exactMatch OMIM:617930 chromosome 1p35 deletion syndrome semapv:UnspecifiedMatching MONDO:0060677 chromosome 1p35 deletion syndrome skos:exactMatch UMLS:C4693669 semapv:UnspecifiedMatching MONDO:0060688 hyperthyroxinemia, euthyroid, caused by generalized 5-prime-deiodinase deficiency skos:exactMatch MEDGEN:326643 semapv:UnspecifiedMatching MONDO:0060688 hyperthyroxinemia, euthyroid, caused by generalized 5-prime-deiodinase deficiency skos:exactMatch OMIM:617953 hyperthyroxinemia, euthyroid, caused by generalized 5-prime-deiodinase deficiency semapv:UnspecifiedMatching MONDO:0060688 hyperthyroxinemia, euthyroid, caused by generalized 5-prime-deiodinase deficiency skos:exactMatch UMLS:C1840059 semapv:UnspecifiedMatching MONDO:0060690 phenytoin toxicity skos:exactMatch MEDGEN:101775 semapv:UnspecifiedMatching MONDO:0060690 phenytoin toxicity skos:exactMatch OMIM:617955 phenytoin toxicity semapv:UnspecifiedMatching MONDO:0060690 phenytoin toxicity skos:exactMatch UMLS:C0149969 semapv:UnspecifiedMatching MONDO:0060702 spondyloepimetaphyseal dysplasia, di rocco type skos:exactMatch MEDGEN:1646454 semapv:UnspecifiedMatching MONDO:0060702 spondyloepimetaphyseal dysplasia, di rocco type skos:exactMatch OMIM:617974 spondyloepimetaphyseal dysplasia, di rocco type semapv:UnspecifiedMatching MONDO:0060702 spondyloepimetaphyseal dysplasia, di rocco type skos:exactMatch UMLS:C4693799 semapv:UnspecifiedMatching MONDO:0060704 neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures skos:exactMatch MEDGEN:1633724 semapv:UnspecifiedMatching MONDO:0060704 neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures skos:exactMatch OMIM:617977 neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures semapv:UnspecifiedMatching MONDO:0060704 neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures skos:exactMatch UMLS:C4693816 semapv:UnspecifiedMatching MONDO:0060707 Ververi-Brady syndrome 1 skos:exactMatch OMIM:617982 ververi-brady syndrome 1 semapv:UnspecifiedMatching MONDO:0060707 Ververi-Brady syndrome 1 skos:exactMatch Orphanet:580940 QRICH1-related intellectual disability-chondrodysplasia syndrome semapv:UnspecifiedMatching MONDO:0060711 Jaberi-Elahi syndrome skos:exactMatch MEDGEN:1647359 semapv:UnspecifiedMatching MONDO:0060711 Jaberi-Elahi syndrome skos:exactMatch OMIM:617988 jaberi-elahi syndrome semapv:UnspecifiedMatching MONDO:0060711 Jaberi-Elahi syndrome skos:exactMatch UMLS:C4693848 semapv:UnspecifiedMatching MONDO:0060713 deafness, congenital heart defects, and posterior embryotoxon skos:exactMatch MEDGEN:355614 semapv:UnspecifiedMatching MONDO:0060713 deafness, congenital heart defects, and posterior embryotoxon skos:exactMatch OMIM:617992 deafness, congenital heart defects, and posterior embryotoxon semapv:UnspecifiedMatching MONDO:0060713 deafness, congenital heart defects, and posterior embryotoxon skos:exactMatch UMLS:C1866053 semapv:UnspecifiedMatching MONDO:0060713 deafness, congenital heart defects, and posterior embryotoxon skos:exactMatch mesh:C566604 semapv:UnspecifiedMatching MONDO:0060714 tumoral calcinosis, hyperphosphatemic, familial, 2 skos:exactMatch EFO:0009383 semapv:UnspecifiedMatching MONDO:0060714 tumoral calcinosis, hyperphosphatemic, familial, 2 skos:exactMatch MEDGEN:1640532 semapv:UnspecifiedMatching MONDO:0060714 tumoral calcinosis, hyperphosphatemic, familial, 2 skos:exactMatch OMIM:617993 tumoral calcinosis, hyperphosphatemic, familial, 2 semapv:UnspecifiedMatching MONDO:0060714 tumoral calcinosis, hyperphosphatemic, familial, 2 skos:exactMatch UMLS:C4693863 semapv:UnspecifiedMatching MONDO:0060715 tumoral calcinosis, hyperphosphatemic, familial, 3 skos:exactMatch EFO:0009384 semapv:UnspecifiedMatching MONDO:0060715 tumoral calcinosis, hyperphosphatemic, familial, 3 skos:exactMatch MEDGEN:1638917 semapv:UnspecifiedMatching MONDO:0060715 tumoral calcinosis, hyperphosphatemic, familial, 3 skos:exactMatch OMIM:617994 tumoral calcinosis, hyperphosphatemic, familial, 3 semapv:UnspecifiedMatching MONDO:0060715 tumoral calcinosis, hyperphosphatemic, familial, 3 skos:exactMatch UMLS:C4693864 semapv:UnspecifiedMatching MONDO:0060720 congenital disorder of glycosylation with defective fucosylation skos:exactMatch MEDGEN:1647704 semapv:UnspecifiedMatching MONDO:0060720 congenital disorder of glycosylation with defective fucosylation skos:exactMatch OMIMPS:618005 Congenital disorder of glycosylation with defective fucosylation semapv:UnspecifiedMatching MONDO:0060720 congenital disorder of glycosylation with defective fucosylation skos:exactMatch UMLS:C4693905 semapv:UnspecifiedMatching MONDO:0060724 glycosylphosphatidylinositol biosynthesis defect 17 skos:exactMatch MEDGEN:1648437 semapv:UnspecifiedMatching MONDO:0060724 glycosylphosphatidylinositol biosynthesis defect 17 skos:exactMatch OMIM:618010 glycosylphosphatidylinositol biosynthesis defect 17 semapv:UnspecifiedMatching MONDO:0060724 glycosylphosphatidylinositol biosynthesis defect 17 skos:exactMatch UMLS:C4747891 semapv:UnspecifiedMatching MONDO:0060729 protoporphyria, erythropoietic, 2 skos:exactMatch MEDGEN:1645733 semapv:UnspecifiedMatching MONDO:0060729 protoporphyria, erythropoietic, 2 skos:exactMatch OMIM:618015 protoporphyria, erythropoietic, 2 semapv:UnspecifiedMatching MONDO:0060729 protoporphyria, erythropoietic, 2 skos:exactMatch UMLS:C4693947 semapv:UnspecifiedMatching MONDO:0060732 tetraamelia syndrome 2 skos:exactMatch DOID:0112193 tetraamelia syndrome 2 semapv:UnspecifiedMatching MONDO:0060732 tetraamelia syndrome 2 skos:exactMatch MEDGEN:1648284 semapv:UnspecifiedMatching MONDO:0060732 tetraamelia syndrome 2 skos:exactMatch OMIM:618021 tetraamelia syndrome 2 semapv:UnspecifiedMatching MONDO:0060732 tetraamelia syndrome 2 skos:exactMatch UMLS:C4747923 semapv:UnspecifiedMatching MONDO:0060733 humerofemoral hypoplasia with radiotibial ray deficiency skos:exactMatch MEDGEN:1648393 semapv:UnspecifiedMatching MONDO:0060733 humerofemoral hypoplasia with radiotibial ray deficiency skos:exactMatch OMIM:618022 humerofemoral hypoplasia with radiotibial ray deficiency semapv:UnspecifiedMatching MONDO:0060733 humerofemoral hypoplasia with radiotibial ray deficiency skos:exactMatch UMLS:C4747940 semapv:UnspecifiedMatching MONDO:0060745 intellectual developmental disorder with or without epilepsy or cerebellar ataxia skos:exactMatch MEDGEN:1648354 semapv:UnspecifiedMatching MONDO:0060745 intellectual developmental disorder with or without epilepsy or cerebellar ataxia skos:exactMatch OMIM:618060 intellectual developmental disorder with or without epilepsy or cerebellar ataxia semapv:UnspecifiedMatching MONDO:0060745 intellectual developmental disorder with or without epilepsy or cerebellar ataxia skos:exactMatch UMLS:C4748041 semapv:UnspecifiedMatching MONDO:0060752 neurodevelopmental disorder with spasticity and poor growth skos:exactMatch DOID:0070421 neurodevelopmental disorder with spasticity and poor growth semapv:UnspecifiedMatching MONDO:0060752 neurodevelopmental disorder with spasticity and poor growth skos:exactMatch MEDGEN:1648309 semapv:UnspecifiedMatching MONDO:0060752 neurodevelopmental disorder with spasticity and poor growth skos:exactMatch OMIM:618076 neurodevelopmental disorder with spasticity and poor growth semapv:UnspecifiedMatching MONDO:0060752 neurodevelopmental disorder with spasticity and poor growth skos:exactMatch UMLS:C4748081 semapv:UnspecifiedMatching MONDO:0060758 spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits skos:exactMatch MEDGEN:1648308 semapv:UnspecifiedMatching MONDO:0060758 spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits skos:exactMatch OMIM:618087 spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits semapv:UnspecifiedMatching MONDO:0060758 spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits skos:exactMatch UMLS:C4748120 semapv:UnspecifiedMatching MONDO:0060759 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures skos:exactMatch DOID:0081327 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures semapv:UnspecifiedMatching MONDO:0060759 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures skos:exactMatch MEDGEN:1648345 semapv:UnspecifiedMatching MONDO:0060759 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures skos:exactMatch OMIM:618088 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures semapv:UnspecifiedMatching MONDO:0060759 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures skos:exactMatch Orphanet:597623 IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome semapv:UnspecifiedMatching MONDO:0060759 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures skos:exactMatch UMLS:C4748127 semapv:UnspecifiedMatching MONDO:0060760 intellectual developmental disorder with dysmorphic facies and behavioral abnormalities skos:exactMatch DOID:0061129 intellectual developmental disorder with dysmorphic facies and behavioral abnormalities semapv:UnspecifiedMatching MONDO:0060760 intellectual developmental disorder with dysmorphic facies and behavioral abnormalities skos:exactMatch MEDGEN:1648498 semapv:UnspecifiedMatching MONDO:0060760 intellectual developmental disorder with dysmorphic facies and behavioral abnormalities skos:exactMatch OMIM:618089 intellectual developmental disorder with dysmorphic facies and behavioral abnormalities semapv:UnspecifiedMatching MONDO:0060760 intellectual developmental disorder with dysmorphic facies and behavioral abnormalities skos:exactMatch UMLS:C4748135 semapv:UnspecifiedMatching MONDO:0060761 neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum skos:exactMatch MEDGEN:1648487 semapv:UnspecifiedMatching MONDO:0060761 neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum skos:exactMatch OMIM:618090 neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum semapv:UnspecifiedMatching MONDO:0060761 neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum skos:exactMatch UMLS:C4748137 semapv:UnspecifiedMatching MONDO:0060763 intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities skos:exactMatch MEDGEN:1648327 semapv:UnspecifiedMatching MONDO:0060763 intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities skos:exactMatch OMIM:618092 intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities semapv:UnspecifiedMatching MONDO:0060763 intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities skos:exactMatch Orphanet:662829 Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome semapv:UnspecifiedMatching MONDO:0060763 intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities skos:exactMatch UMLS:C4748152 semapv:UnspecifiedMatching MONDO:0060764 tetraamelia syndrome 1 skos:exactMatch DOID:0112192 tetraamelia syndrome 1 semapv:UnspecifiedMatching MONDO:0060764 tetraamelia syndrome 1 skos:exactMatch MEDGEN:860705 semapv:UnspecifiedMatching MONDO:0060764 tetraamelia syndrome 1 skos:exactMatch OMIM:273395 tetraamelia syndrome 1 semapv:UnspecifiedMatching MONDO:0060764 tetraamelia syndrome 1 skos:exactMatch UMLS:C4012268 semapv:UnspecifiedMatching MONDO:0060765 fibroepithelial polyp skos:exactMatch MEDGEN:1849971 semapv:UnspecifiedMatching MONDO:0060765 fibroepithelial polyp skos:exactMatch NCIT:C3337 Fibroepithelial Polyp semapv:UnspecifiedMatching MONDO:0060765 fibroepithelial polyp skos:exactMatch UMLS:C5848070 semapv:UnspecifiedMatching MONDO:0060766 anal polyp skos:exactMatch ICD10CM:K62.0 Anal polyp semapv:UnspecifiedMatching MONDO:0060766 anal polyp skos:exactMatch MEDGEN:75637 semapv:UnspecifiedMatching MONDO:0060766 anal polyp skos:exactMatch NCIT:C3957 Anal Polyp semapv:UnspecifiedMatching MONDO:0060766 anal polyp skos:exactMatch SCTID:88580009 semapv:UnspecifiedMatching MONDO:0060766 anal polyp skos:exactMatch UMLS:C0267573 semapv:UnspecifiedMatching MONDO:0060766 anal polyp skos:exactMatch icd11.foundation:2038426249 Anal polyp semapv:UnspecifiedMatching MONDO:0060768 gingival fibroepithelial polyp skos:exactMatch MEDGEN:98314 semapv:UnspecifiedMatching MONDO:0060768 gingival fibroepithelial polyp skos:exactMatch NCIT:C4693 Gingival Fibroepithelial Polyp semapv:UnspecifiedMatching MONDO:0060768 gingival fibroepithelial polyp skos:exactMatch SCTID:235001002 semapv:UnspecifiedMatching MONDO:0060768 gingival fibroepithelial polyp skos:exactMatch UMLS:C0399441 semapv:UnspecifiedMatching MONDO:0060768 gingival fibroepithelial polyp skos:exactMatch icd11.foundation:1520492305 Gingival fibroepithelial polyp semapv:UnspecifiedMatching MONDO:0060774 vaginal fibroepithelial polyp skos:exactMatch MEDGEN:152894 semapv:UnspecifiedMatching MONDO:0060774 vaginal fibroepithelial polyp skos:exactMatch NCIT:C4948 Vaginal Fibroepithelial Stromal Polyp semapv:UnspecifiedMatching MONDO:0060774 vaginal fibroepithelial polyp skos:exactMatch UMLS:C0750071 semapv:UnspecifiedMatching MONDO:0060777 cervical fibroepithelial polyp skos:exactMatch MEDGEN:308945 semapv:UnspecifiedMatching MONDO:0060777 cervical fibroepithelial polyp skos:exactMatch NCIT:C40200 Cervical Fibroepithelial Polyp semapv:UnspecifiedMatching MONDO:0060777 cervical fibroepithelial polyp skos:exactMatch UMLS:C1516413 semapv:UnspecifiedMatching MONDO:0060778 adult Fanconi syndrome skos:exactMatch MEDGEN:137960 semapv:UnspecifiedMatching MONDO:0060778 adult Fanconi syndrome skos:exactMatch NCIT:C4377 Adult Fanconi Syndrome semapv:UnspecifiedMatching MONDO:0060778 adult Fanconi syndrome skos:exactMatch UMLS:C0341703 semapv:UnspecifiedMatching MONDO:0060779 acquired Fanconi syndrome skos:exactMatch MEDGEN:90966 semapv:UnspecifiedMatching MONDO:0060779 acquired Fanconi syndrome skos:exactMatch NCIT:C78296 Acquired Fanconi Syndrome semapv:UnspecifiedMatching MONDO:0060779 acquired Fanconi syndrome skos:exactMatch SCTID:236467001 semapv:UnspecifiedMatching MONDO:0060779 acquired Fanconi syndrome skos:exactMatch UMLS:C0341702 semapv:UnspecifiedMatching MONDO:0060781 Preeyasombat-Varavithya syndrome skos:exactMatch MEDGEN:443919 semapv:UnspecifiedMatching MONDO:0060781 Preeyasombat-Varavithya syndrome skos:exactMatch UMLS:C2930859 semapv:UnspecifiedMatching MONDO:0060781 Preeyasombat-Varavithya syndrome skos:exactMatch mesh:C535269 semapv:UnspecifiedMatching MONDO:0060782 premalignant hematological system disease skos:exactMatch MEDGEN:233342 semapv:UnspecifiedMatching MONDO:0060782 premalignant hematological system disease skos:exactMatch NCIT:C27274 Premalignant Hematologic Condition semapv:UnspecifiedMatching MONDO:0060782 premalignant hematological system disease skos:exactMatch UMLS:C1335471 semapv:UnspecifiedMatching MONDO:0060783 classic congenital adrenal hyperplasia skos:exactMatch MEDGEN:1390311 semapv:UnspecifiedMatching MONDO:0060783 classic congenital adrenal hyperplasia skos:exactMatch NCIT:C131423 Classic Congenital Adrenal Hyperplasia semapv:UnspecifiedMatching MONDO:0060783 classic congenital adrenal hyperplasia skos:exactMatch UMLS:C4329672 semapv:UnspecifiedMatching MONDO:0100001 alpha-gal syndrome skos:exactMatch DOID:0070659 alpha-gal syndrome semapv:UnspecifiedMatching MONDO:0100001 alpha-gal syndrome skos:exactMatch MEDGEN:1778444 semapv:UnspecifiedMatching MONDO:0100001 alpha-gal syndrome skos:exactMatch UMLS:C5442181 semapv:UnspecifiedMatching MONDO:0100002 food protein-induced allergic proctocolitis skos:exactMatch MEDGEN:1663071 semapv:UnspecifiedMatching MONDO:0100002 food protein-induced allergic proctocolitis skos:exactMatch UMLS:C4750318 semapv:UnspecifiedMatching MONDO:0100003 susceptibility to angioedema induced by ACE inhibitors skos:exactMatch MEDGEN:813041 semapv:UnspecifiedMatching MONDO:0100003 susceptibility to angioedema induced by ACE inhibitors skos:exactMatch OMIM:300909 angioedema induced by ace inhibitors, susceptibility to semapv:UnspecifiedMatching MONDO:0100003 susceptibility to angioedema induced by ACE inhibitors skos:exactMatch UMLS:C3806711 semapv:UnspecifiedMatching MONDO:0100004 mast cell activation syndrome skos:exactMatch MEDGEN:1698540 semapv:UnspecifiedMatching MONDO:0100004 mast cell activation syndrome skos:exactMatch UMLS:C5200989 semapv:UnspecifiedMatching MONDO:0100004 mast cell activation syndrome skos:exactMatch mesh:D000090267 semapv:UnspecifiedMatching MONDO:0100006 secondary mast cell activation syndrome skos:exactMatch ICD10CM:D89.43 Secondary mast cell activation semapv:UnspecifiedMatching MONDO:0100006 secondary mast cell activation syndrome skos:exactMatch MEDGEN:1843472 semapv:UnspecifiedMatching MONDO:0100006 secondary mast cell activation syndrome skos:exactMatch UMLS:C4267895 semapv:UnspecifiedMatching MONDO:0100008 food protein-induced enterocolitis syndrome skos:exactMatch ICD10CM:K52.21 Food protein-induced enterocolitis syndrome semapv:UnspecifiedMatching MONDO:0100008 food protein-induced enterocolitis syndrome skos:exactMatch MEDGEN:1623554 semapv:UnspecifiedMatching MONDO:0100008 food protein-induced enterocolitis syndrome skos:exactMatch UMLS:C4268599 semapv:UnspecifiedMatching MONDO:0100008 food protein-induced enterocolitis syndrome skos:exactMatch icd11.foundation:1729235847 Food protein-induced enterocolitis syndrome semapv:UnspecifiedMatching MONDO:0100010 disease of the tendon skos:exactMatch EFO:1001434 semapv:UnspecifiedMatching MONDO:0100010 disease of the tendon skos:exactMatch MEDGEN:508839 semapv:UnspecifiedMatching MONDO:0100010 disease of the tendon skos:exactMatch SCTID:68172002 semapv:UnspecifiedMatching MONDO:0100010 disease of the tendon skos:exactMatch UMLS:C0151936 semapv:UnspecifiedMatching MONDO:0100010 disease of the tendon skos:exactMatch mesh:D052256 semapv:UnspecifiedMatching MONDO:0100011 tendinosis skos:exactMatch MEDGEN:293673 semapv:UnspecifiedMatching MONDO:0100011 tendinosis skos:exactMatch SCTID:724152009 semapv:UnspecifiedMatching MONDO:0100011 tendinosis skos:exactMatch UMLS:C1568363 semapv:UnspecifiedMatching MONDO:0100014 autoimmune retinopathy skos:exactMatch MEDGEN:1388012 semapv:UnspecifiedMatching MONDO:0100014 autoimmune retinopathy skos:exactMatch SCTID:724809006 semapv:UnspecifiedMatching MONDO:0100014 autoimmune retinopathy skos:exactMatch UMLS:C3203657 semapv:UnspecifiedMatching MONDO:0100014 autoimmune retinopathy skos:exactMatch icd11.foundation:1969888129 Autoimmune retinopathy semapv:UnspecifiedMatching MONDO:0100017 pityriasis rubra pilaris skos:exactMatch DOID:9212 pityriasis rubra pilaris semapv:UnspecifiedMatching MONDO:0100017 pityriasis rubra pilaris skos:exactMatch ICD10CM:L44.0 Pityriasis rubra pilaris semapv:UnspecifiedMatching MONDO:0100017 pityriasis rubra pilaris skos:exactMatch MEDGEN:45939 semapv:UnspecifiedMatching MONDO:0100017 pityriasis rubra pilaris skos:exactMatch NCIT:C85014 Pityriasis Rubra Pilaris semapv:UnspecifiedMatching MONDO:0100017 pityriasis rubra pilaris skos:exactMatch SCTID:3755001 semapv:UnspecifiedMatching MONDO:0100017 pityriasis rubra pilaris skos:exactMatch UMLS:C0032027 semapv:UnspecifiedMatching MONDO:0100017 pityriasis rubra pilaris skos:exactMatch icd11.foundation:2048594962 Pityriasis rubra pilaris semapv:UnspecifiedMatching MONDO:0100017 pityriasis rubra pilaris skos:exactMatch mesh:D010916 semapv:UnspecifiedMatching MONDO:0100021 photosensitive occipital lobe epilepsy skos:exactMatch MEDGEN:1871245 semapv:UnspecifiedMatching MONDO:0100021 photosensitive occipital lobe epilepsy skos:exactMatch UMLS:C5967452 semapv:UnspecifiedMatching MONDO:0100022 neonatal/infantile epilepsy syndrome skos:exactMatch Orphanet:693802 Neonatal-infantile onset epilepsy syndrome semapv:UnspecifiedMatching MONDO:0100025 epilepsy of infancy with migrating focal seizures skos:exactMatch MEDGEN:1381392 semapv:UnspecifiedMatching MONDO:0100025 epilepsy of infancy with migrating focal seizures skos:exactMatch SCTID:733195008 semapv:UnspecifiedMatching MONDO:0100025 epilepsy of infancy with migrating focal seizures skos:exactMatch UMLS:C4518639 semapv:UnspecifiedMatching MONDO:0100025 epilepsy of infancy with migrating focal seizures skos:exactMatch icd11.foundation:1727727812 Epilepsy of infancy with migrating focal seizures semapv:UnspecifiedMatching MONDO:0100028 immune epilepsy skos:exactMatch MEDGEN:1371634 semapv:UnspecifiedMatching MONDO:0100028 immune epilepsy skos:exactMatch UMLS:C4510729 semapv:UnspecifiedMatching MONDO:0100033 metabolic epilepsy skos:exactMatch MEDGEN:1843497 semapv:UnspecifiedMatching MONDO:0100033 metabolic epilepsy skos:exactMatch UMLS:C4524099 semapv:UnspecifiedMatching MONDO:0100034 cerebral folate deficiency skos:exactMatch MEDGEN:893131 semapv:UnspecifiedMatching MONDO:0100034 cerebral folate deficiency skos:exactMatch UMLS:C4022901 semapv:UnspecifiedMatching MONDO:0100034 cerebral folate deficiency skos:exactMatch icd11.foundation:1137222547 Cerebral folate deficiency semapv:UnspecifiedMatching MONDO:0100035 structural epilepsy skos:exactMatch MEDGEN:1843494 semapv:UnspecifiedMatching MONDO:0100035 structural epilepsy skos:exactMatch UMLS:C4524097 semapv:UnspecifiedMatching MONDO:0100038 complex neurodevelopmental disorder skos:exactMatch MEDGEN:1800189 semapv:UnspecifiedMatching MONDO:0100038 complex neurodevelopmental disorder skos:exactMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:UnspecifiedMatching MONDO:0100038 complex neurodevelopmental disorder skos:exactMatch UMLS:C5568766 semapv:UnspecifiedMatching MONDO:0100040 FOXG1 disorder skos:broadMatch ICD10CM:F84.8 Other pervasive developmental disorders semapv:UnspecifiedMatching MONDO:0100040 FOXG1 disorder skos:exactMatch DOID:0070657 congenital variant of Rett syndrome semapv:UnspecifiedMatching MONDO:0100040 FOXG1 disorder skos:exactMatch MEDGEN:462055 semapv:UnspecifiedMatching MONDO:0100040 FOXG1 disorder skos:exactMatch NCIT:C176903 Rett Syndrome, Congenital Variant semapv:UnspecifiedMatching MONDO:0100040 FOXG1 disorder skos:exactMatch OMIM:613454 rett syndrome, congenital variant semapv:UnspecifiedMatching MONDO:0100040 FOXG1 disorder skos:exactMatch Orphanet:561854 FOXG1 syndrome semapv:UnspecifiedMatching MONDO:0100040 FOXG1 disorder skos:exactMatch Orphanet:598164 FOXG1 syndrome due to intragenic alteration semapv:UnspecifiedMatching MONDO:0100040 FOXG1 disorder skos:exactMatch UMLS:C3150705 semapv:UnspecifiedMatching MONDO:0100042 cardiac conduction defect skos:exactMatch MEDGEN:78114 semapv:UnspecifiedMatching MONDO:0100042 cardiac conduction defect skos:exactMatch OMIM:115080 cardiac conduction defect semapv:UnspecifiedMatching MONDO:0100042 cardiac conduction defect skos:exactMatch UMLS:C0264886 semapv:UnspecifiedMatching MONDO:0100043 epidermodysplasia verruciformis, susceptibility to skos:exactMatch OMIMPS:226400 Epidermodysplasia verruciformis, susceptibility to semapv:UnspecifiedMatching MONDO:0100044 acrofrontofacionasal dysostosis 1 skos:exactMatch MEDGEN:1632008 semapv:UnspecifiedMatching MONDO:0100044 acrofrontofacionasal dysostosis 1 skos:exactMatch OMIM:201180 acrofrontofacionasal dysostosis 1 semapv:UnspecifiedMatching MONDO:0100044 acrofrontofacionasal dysostosis 1 skos:exactMatch UMLS:C4551987 semapv:UnspecifiedMatching MONDO:0100044 acrofrontofacionasal dysostosis 1 skos:exactMatch mesh:C538186 semapv:UnspecifiedMatching MONDO:0100045 epidermodysplasia verruciformis, susceptibility to, 1 skos:exactMatch MEDGEN:1648341 semapv:UnspecifiedMatching MONDO:0100045 epidermodysplasia verruciformis, susceptibility to, 1 skos:exactMatch OMIM:226400 epidermodysplasia verruciformis, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0100045 epidermodysplasia verruciformis, susceptibility to, 1 skos:exactMatch UMLS:C4722564 semapv:UnspecifiedMatching MONDO:0100046 exfoliation syndrome, susceptibility to skos:exactMatch MEDGEN:864692 semapv:UnspecifiedMatching MONDO:0100046 exfoliation syndrome, susceptibility to skos:exactMatch OMIM:177650 exfoliation syndrome semapv:UnspecifiedMatching MONDO:0100046 exfoliation syndrome, susceptibility to skos:exactMatch UMLS:C4016255 semapv:UnspecifiedMatching MONDO:0100048 graft-versus-host disease, susceptibility to skos:exactMatch MEDGEN:482307 semapv:UnspecifiedMatching MONDO:0100048 graft-versus-host disease, susceptibility to skos:exactMatch OMIM:614395 graft-versus-host disease, susceptibility to semapv:UnspecifiedMatching MONDO:0100048 graft-versus-host disease, susceptibility to skos:exactMatch UMLS:C3280677 semapv:UnspecifiedMatching MONDO:0100051 idiopathic mast cell activation syndrome skos:exactMatch ICD10CM:D89.42 Idiopathic mast cell activation syndrome semapv:UnspecifiedMatching MONDO:0100051 idiopathic mast cell activation syndrome skos:exactMatch MEDGEN:1786072 semapv:UnspecifiedMatching MONDO:0100051 idiopathic mast cell activation syndrome skos:exactMatch UMLS:C4267894 semapv:UnspecifiedMatching MONDO:0100053 anaphylaxis skos:exactMatch MEDGEN:1373755 semapv:UnspecifiedMatching MONDO:0100053 anaphylaxis skos:exactMatch NCIT:C107101 Anaphylaxis semapv:UnspecifiedMatching MONDO:0100053 anaphylaxis skos:exactMatch SCTID:39579001 semapv:UnspecifiedMatching MONDO:0100053 anaphylaxis skos:exactMatch UMLS:C4316895 semapv:UnspecifiedMatching MONDO:0100053 anaphylaxis skos:exactMatch icd11.foundation:1868068711 Anaphylaxis semapv:UnspecifiedMatching MONDO:0100053 anaphylaxis skos:exactMatch mesh:D000707 semapv:UnspecifiedMatching MONDO:0100054 idiopathic anaphylaxis skos:exactMatch MEDGEN:595022 semapv:UnspecifiedMatching MONDO:0100054 idiopathic anaphylaxis skos:exactMatch SCTID:241954008 semapv:UnspecifiedMatching MONDO:0100054 idiopathic anaphylaxis skos:exactMatch UMLS:C0413235 semapv:UnspecifiedMatching MONDO:0100055 intraosseous spindle cell rhabdomyosarcoma with TFCP2/NCOA2 rearrangements skos:exactMatch MEDGEN:1791329 semapv:UnspecifiedMatching MONDO:0100055 intraosseous spindle cell rhabdomyosarcoma with TFCP2/NCOA2 rearrangements skos:exactMatch NCIT:C178236 Intraosseous Spindle Cell Rhabdomyosarcoma with TFCP2/NCOA2 Rearrangements semapv:UnspecifiedMatching MONDO:0100055 intraosseous spindle cell rhabdomyosarcoma with TFCP2/NCOA2 rearrangements skos:exactMatch UMLS:C5554888 semapv:UnspecifiedMatching MONDO:0100056 exercise-induced anaphylaxis skos:exactMatch MEDGEN:576137 semapv:UnspecifiedMatching MONDO:0100056 exercise-induced anaphylaxis skos:exactMatch UMLS:C0344183 semapv:UnspecifiedMatching MONDO:0100056 exercise-induced anaphylaxis skos:exactMatch icd11.foundation:1069179856 Exercise-induced anaphylaxis semapv:UnspecifiedMatching MONDO:0100057 food-dependent exercise-induced anaphylaxis skos:exactMatch MEDGEN:1780757 semapv:UnspecifiedMatching MONDO:0100057 food-dependent exercise-induced anaphylaxis skos:exactMatch UMLS:C5546138 semapv:UnspecifiedMatching MONDO:0100057 food-dependent exercise-induced anaphylaxis skos:exactMatch icd11.foundation:854135859 Food-dependent exercise-induced anaphylaxis semapv:UnspecifiedMatching MONDO:0100058 hypervalinemia and hyperleucine-isoleucinemia skos:exactMatch DOID:0060950 hypervalinemia and hyperleucine-isoleucinemia semapv:UnspecifiedMatching MONDO:0100058 hypervalinemia and hyperleucine-isoleucinemia skos:exactMatch MEDGEN:1719306 semapv:UnspecifiedMatching MONDO:0100058 hypervalinemia and hyperleucine-isoleucinemia skos:exactMatch OMIM:618850 hypervalinemia and hyperleucine-isoleucinemia semapv:UnspecifiedMatching MONDO:0100058 hypervalinemia and hyperleucine-isoleucinemia skos:exactMatch UMLS:C5394277 semapv:UnspecifiedMatching MONDO:0100059 hypereosinophilia of undetermined significance skos:exactMatch MEDGEN:1812275 semapv:UnspecifiedMatching MONDO:0100059 hypereosinophilia of undetermined significance skos:exactMatch UMLS:C5666804 semapv:UnspecifiedMatching MONDO:0100060 congenital/infantile spindle cell rhabdomyosarcoma with VGLL2/NCOA2/CITED2 rearrangements skos:exactMatch MEDGEN:1791325 semapv:UnspecifiedMatching MONDO:0100060 congenital/infantile spindle cell rhabdomyosarcoma with VGLL2/NCOA2/CITED2 rearrangements skos:exactMatch NCIT:C178232 Congenital/Infantile Spindle Cell Rhabdomyosarcoma with VGLL2/NCOA2/CITED2 Rearrangements semapv:UnspecifiedMatching MONDO:0100060 congenital/infantile spindle cell rhabdomyosarcoma with VGLL2/NCOA2/CITED2 rearrangements skos:exactMatch UMLS:C5554884 semapv:UnspecifiedMatching MONDO:0100062 genetic developmental and epileptic encephalopathy skos:exactMatch DOID:0112202 developmental and epileptic encephalopathy semapv:UnspecifiedMatching MONDO:0100062 genetic developmental and epileptic encephalopathy skos:exactMatch NCIT:C122814 Developmental and Epileptic Encephalopathy semapv:UnspecifiedMatching MONDO:0100062 genetic developmental and epileptic encephalopathy skos:exactMatch OMIMPS:308350 Developmental and epileptic encephalopathy semapv:UnspecifiedMatching MONDO:0100063 Pericytoma with t(7;12) skos:exactMatch DOID:0080896 pericytoma with t(7;12) semapv:UnspecifiedMatching MONDO:0100063 Pericytoma with t(7;12) skos:exactMatch MEDGEN:1854549 semapv:UnspecifiedMatching MONDO:0100063 Pericytoma with t(7;12) skos:exactMatch NCIT:C202896 GLI1-Altered Soft Tissue Tumor semapv:UnspecifiedMatching MONDO:0100063 Pericytoma with t(7;12) skos:exactMatch UMLS:C5907818 semapv:UnspecifiedMatching MONDO:0100064 tyrosine hydroxylase deficiency skos:exactMatch MEDGEN:1814581 semapv:UnspecifiedMatching MONDO:0100064 tyrosine hydroxylase deficiency skos:exactMatch NCIT:C157158 Tyrosine Hydroxylase Deficiency semapv:UnspecifiedMatching MONDO:0100064 tyrosine hydroxylase deficiency skos:exactMatch UMLS:C5700309 semapv:UnspecifiedMatching MONDO:0100064 tyrosine hydroxylase deficiency skos:exactMatch icd11.foundation:247698609 Tyrosine hydroxylase deficiency semapv:UnspecifiedMatching MONDO:0100064 tyrosine hydroxylase deficiency skos:exactMatch mesh:C537537 semapv:UnspecifiedMatching MONDO:0100067 childhood spindle cell rhabdomyosarcoma skos:exactMatch MEDGEN:882003 semapv:UnspecifiedMatching MONDO:0100067 childhood spindle cell rhabdomyosarcoma skos:exactMatch NCIT:C123397 Childhood Spindle Cell Rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0100067 childhood spindle cell rhabdomyosarcoma skos:exactMatch UMLS:C4055242 semapv:UnspecifiedMatching MONDO:0100070 neuroendocrine disorder skos:exactMatch MEDGEN:1843486 semapv:UnspecifiedMatching MONDO:0100070 neuroendocrine disorder skos:exactMatch UMLS:C0541403 semapv:UnspecifiedMatching MONDO:0100071 cardiocutaneous syndrome skos:exactMatch MEDGEN:1843498 semapv:UnspecifiedMatching MONDO:0100071 cardiocutaneous syndrome skos:exactMatch UMLS:C0543816 semapv:UnspecifiedMatching MONDO:0100073 methicillin-resistant staphylococcus aureus infectious disease skos:exactMatch EFO:0008555 semapv:UnspecifiedMatching MONDO:0100073 methicillin-resistant staphylococcus aureus infectious disease skos:exactMatch MEDGEN:575565 semapv:UnspecifiedMatching MONDO:0100073 methicillin-resistant staphylococcus aureus infectious disease skos:exactMatch UMLS:C0343401 semapv:UnspecifiedMatching MONDO:0100075 jaw fracture skos:exactMatch EFO:0009612 semapv:UnspecifiedMatching MONDO:0100075 jaw fracture skos:exactMatch mesh:D007572 semapv:UnspecifiedMatching MONDO:0100076 juvenile idiopathic scoliosis skos:exactMatch ICD10CM:M41.11 Juvenile idiopathic scoliosis semapv:UnspecifiedMatching MONDO:0100076 juvenile idiopathic scoliosis skos:exactMatch MEDGEN:1843471 semapv:UnspecifiedMatching MONDO:0100076 juvenile idiopathic scoliosis skos:exactMatch UMLS:C3495538 semapv:UnspecifiedMatching MONDO:0100077 congenital alveolar dysplasia skos:exactMatch MEDGEN:20539 semapv:UnspecifiedMatching MONDO:0100077 congenital alveolar dysplasia skos:exactMatch UMLS:C0035220 semapv:UnspecifiedMatching MONDO:0100079 developmental and epileptic encephalopathy, 6A skos:exactMatch OMIM:607208 dravet syndrome semapv:UnspecifiedMatching MONDO:0100081 sleep disorder skos:exactMatch EFO:0008568 semapv:UnspecifiedMatching MONDO:0100081 sleep disorder skos:exactMatch MEDGEN:208862 semapv:UnspecifiedMatching MONDO:0100081 sleep disorder skos:exactMatch NCIT:C3376 Sleep Disorder semapv:UnspecifiedMatching MONDO:0100081 sleep disorder skos:exactMatch UMLS:C0851578 semapv:UnspecifiedMatching MONDO:0100082 LEOPARD syndrome 1 skos:exactMatch DOID:0080548 Noonan syndrome with multiple lentigines 1 semapv:UnspecifiedMatching MONDO:0100082 LEOPARD syndrome 1 skos:exactMatch MEDGEN:1631694 semapv:UnspecifiedMatching MONDO:0100082 LEOPARD syndrome 1 skos:exactMatch OMIM:151100 leopard syndrome 1 semapv:UnspecifiedMatching MONDO:0100082 LEOPARD syndrome 1 skos:exactMatch UMLS:C4551484 semapv:UnspecifiedMatching MONDO:0100083 hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 skos:exactMatch MEDGEN:321945 semapv:UnspecifiedMatching MONDO:0100083 hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 skos:exactMatch NCIT:C151903 Hematologic Neoplasm with Germline RUNX1 Mutation semapv:UnspecifiedMatching MONDO:0100083 hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 skos:exactMatch OMIM:601399 platelet disorder, familial, with associated myeloid malignancy semapv:UnspecifiedMatching MONDO:0100083 hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 skos:exactMatch UMLS:C1832388 semapv:UnspecifiedMatching MONDO:0100085 cancer of long bone of upper limb skos:exactMatch MEDGEN:671616 semapv:UnspecifiedMatching MONDO:0100085 cancer of long bone of upper limb skos:exactMatch UMLS:C0684596 semapv:UnspecifiedMatching MONDO:0100086 perinatal disease skos:exactMatch EFO:0010238 semapv:UnspecifiedMatching MONDO:0100086 perinatal disease skos:exactMatch ICD10CM:P00-P96 Certain conditions originating in the perinatal period (P00-P96) semapv:UnspecifiedMatching MONDO:0100086 perinatal disease skos:exactMatch MEDGEN:75717 semapv:UnspecifiedMatching MONDO:0100086 perinatal disease skos:exactMatch UMLS:C0270075 semapv:UnspecifiedMatching MONDO:0100087 familial Alzheimer disease skos:exactMatch MEDGEN:82914 semapv:UnspecifiedMatching MONDO:0100087 familial Alzheimer disease skos:exactMatch UMLS:C0276496 semapv:UnspecifiedMatching MONDO:0100089 GATA1-Related X-Linked Cytopenia skos:exactMatch MEDGEN:335283 semapv:UnspecifiedMatching MONDO:0100089 GATA1-Related X-Linked Cytopenia skos:exactMatch UMLS:C1845837 semapv:UnspecifiedMatching MONDO:0100091 inherited pseudoxanthoma elasticum skos:exactMatch MEDGEN:697574 semapv:UnspecifiedMatching MONDO:0100091 inherited pseudoxanthoma elasticum skos:exactMatch UMLS:C1274225 semapv:UnspecifiedMatching MONDO:0100092 myoclonus, familial, 2 skos:exactMatch MEDGEN:1683864 semapv:UnspecifiedMatching MONDO:0100092 myoclonus, familial, 2 skos:exactMatch OMIM:618364 myoclonus, familial, 2 semapv:UnspecifiedMatching MONDO:0100092 myoclonus, familial, 2 skos:exactMatch UMLS:C5193056 semapv:UnspecifiedMatching MONDO:0100093 myoclonus, familial, 1 skos:exactMatch MEDGEN:761667 semapv:UnspecifiedMatching MONDO:0100093 myoclonus, familial, 1 skos:exactMatch OMIM:614937 myoclonus, familial, 1 semapv:UnspecifiedMatching MONDO:0100093 myoclonus, familial, 1 skos:exactMatch UMLS:C3539916 semapv:UnspecifiedMatching MONDO:0100094 cannabinoid hyperemesis syndrome skos:exactMatch MEDGEN:1829968 semapv:UnspecifiedMatching MONDO:0100094 cannabinoid hyperemesis syndrome skos:exactMatch UMLS:C5243764 semapv:UnspecifiedMatching MONDO:0100094 cannabinoid hyperemesis syndrome skos:exactMatch icd11.foundation:908145983 Cannabinoid hyperemesis syndrome semapv:UnspecifiedMatching MONDO:0100095 neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures skos:exactMatch DOID:0070352 stress-induced childhood-onset neurodegeneration with variable ataxia and seizures semapv:UnspecifiedMatching MONDO:0100095 neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures skos:exactMatch MEDGEN:1648391 semapv:UnspecifiedMatching MONDO:0100095 neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures skos:exactMatch OMIM:618170 neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures semapv:UnspecifiedMatching MONDO:0100095 neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures skos:exactMatch Orphanet:694922 Childhood-onset stress-induced neurodegenerative ataxia-seizure syndrome semapv:UnspecifiedMatching MONDO:0100095 neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures skos:exactMatch UMLS:C4748527 semapv:UnspecifiedMatching MONDO:0100096 COVID-19 skos:exactMatch DOID:0080600 COVID-19 semapv:UnspecifiedMatching MONDO:0100096 COVID-19 skos:exactMatch ICD10CM:U07.1 COVID-19 semapv:UnspecifiedMatching MONDO:0100096 COVID-19 skos:exactMatch MEDGEN:1699653 semapv:UnspecifiedMatching MONDO:0100096 COVID-19 skos:exactMatch SCTID:840539006 semapv:UnspecifiedMatching MONDO:0100096 COVID-19 skos:exactMatch UMLS:C5203670 semapv:UnspecifiedMatching MONDO:0100096 COVID-19 skos:exactMatch icd11.foundation:1730556128 COVID-19 semapv:UnspecifiedMatching MONDO:0100096 COVID-19 skos:exactMatch mesh:D000086382 semapv:UnspecifiedMatching MONDO:0100101 fetal akinesia deformation sequence 1 skos:exactMatch DOID:0111377 fetal akinesia deformation sequence syndrome 1 semapv:UnspecifiedMatching MONDO:0100101 fetal akinesia deformation sequence 1 skos:exactMatch MEDGEN:220903 semapv:UnspecifiedMatching MONDO:0100101 fetal akinesia deformation sequence 1 skos:exactMatch OMIM:208150 fetal akinesia deformation sequence 1 semapv:UnspecifiedMatching MONDO:0100101 fetal akinesia deformation sequence 1 skos:exactMatch Orphanet:994 Fetal akinesia deformation sequence semapv:UnspecifiedMatching MONDO:0100101 fetal akinesia deformation sequence 1 skos:exactMatch UMLS:C1276035 semapv:UnspecifiedMatching MONDO:0100102 fetal akinesia deformation sequence 2 skos:exactMatch DOID:0111378 fetal akinesia deformation sequence syndrome 2 semapv:UnspecifiedMatching MONDO:0100102 fetal akinesia deformation sequence 2 skos:exactMatch MEDGEN:1678048 semapv:UnspecifiedMatching MONDO:0100102 fetal akinesia deformation sequence 2 skos:exactMatch OMIM:618388 fetal akinesia deformation sequence 2 semapv:UnspecifiedMatching MONDO:0100102 fetal akinesia deformation sequence 2 skos:exactMatch UMLS:C4760576 semapv:UnspecifiedMatching MONDO:0100103 fetal akinesia deformation sequence 3 skos:exactMatch DOID:0111376 fetal akinesia deformation sequence syndrome 3 semapv:UnspecifiedMatching MONDO:0100103 fetal akinesia deformation sequence 3 skos:exactMatch MEDGEN:1680087 semapv:UnspecifiedMatching MONDO:0100103 fetal akinesia deformation sequence 3 skos:exactMatch OMIM:618389 fetal akinesia deformation sequence 3 semapv:UnspecifiedMatching MONDO:0100103 fetal akinesia deformation sequence 3 skos:exactMatch UMLS:C4760599 semapv:UnspecifiedMatching MONDO:0100104 fetal akinesia deformation sequence 4 skos:exactMatch DOID:0111379 fetal akinesia deformation sequence syndrome 4 semapv:UnspecifiedMatching MONDO:0100104 fetal akinesia deformation sequence 4 skos:exactMatch MEDGEN:1675450 semapv:UnspecifiedMatching MONDO:0100104 fetal akinesia deformation sequence 4 skos:exactMatch OMIM:618393 fetal akinesia deformation sequence 4 semapv:UnspecifiedMatching MONDO:0100104 fetal akinesia deformation sequence 4 skos:exactMatch UMLS:C4760578 semapv:UnspecifiedMatching MONDO:0100105 brain small vessel disease 3 skos:exactMatch DOID:0112315 brain small vessel disease 3 semapv:UnspecifiedMatching MONDO:0100105 brain small vessel disease 3 skos:exactMatch MEDGEN:1677948 semapv:UnspecifiedMatching MONDO:0100105 brain small vessel disease 3 skos:exactMatch OMIM:618360 brain small vessel disease 3 semapv:UnspecifiedMatching MONDO:0100105 brain small vessel disease 3 skos:exactMatch UMLS:C5193053 semapv:UnspecifiedMatching MONDO:0100111 focal segmental glomerulosclerosis and neurodevelopmental syndrome skos:exactMatch MEDGEN:1794148 semapv:UnspecifiedMatching MONDO:0100111 focal segmental glomerulosclerosis and neurodevelopmental syndrome skos:exactMatch OMIM:619428 focal segmental glomerulosclerosis and neurodevelopmental syndrome semapv:UnspecifiedMatching MONDO:0100111 focal segmental glomerulosclerosis and neurodevelopmental syndrome skos:exactMatch UMLS:C5561938 semapv:UnspecifiedMatching MONDO:0100114 dry age related macular degeneration skos:exactMatch MEDGEN:543161 semapv:UnspecifiedMatching MONDO:0100114 dry age related macular degeneration skos:exactMatch UMLS:C0271083 semapv:UnspecifiedMatching MONDO:0100115 acute flaccid myelitis skos:exactMatch DOID:0080947 acute flaccid myelitis semapv:UnspecifiedMatching MONDO:0100115 acute flaccid myelitis skos:exactMatch ICD10CM:G04.82 Acute flaccid myelitis semapv:UnspecifiedMatching MONDO:0100115 acute flaccid myelitis skos:exactMatch MEDGEN:927532 semapv:UnspecifiedMatching MONDO:0100115 acute flaccid myelitis skos:exactMatch NCIT:C128379 Acute Flaccid Myelitis semapv:UnspecifiedMatching MONDO:0100115 acute flaccid myelitis skos:exactMatch Orphanet:623801 Acute flaccid myelitis semapv:UnspecifiedMatching MONDO:0100115 acute flaccid myelitis skos:exactMatch UMLS:C4290000 semapv:UnspecifiedMatching MONDO:0100115 acute flaccid myelitis skos:exactMatch mesh:C000629404 semapv:UnspecifiedMatching MONDO:0100116 Middle East respiratory syndrome skos:exactMatch DOID:0080642 Middle East respiratory syndrome semapv:UnspecifiedMatching MONDO:0100116 Middle East respiratory syndrome skos:exactMatch MEDGEN:811327 semapv:UnspecifiedMatching MONDO:0100116 Middle East respiratory syndrome skos:exactMatch NCIT:C128424 Middle East Respiratory Syndrome semapv:UnspecifiedMatching MONDO:0100116 Middle East respiratory syndrome skos:exactMatch Orphanet:576074 Middle East respiratory syndrome semapv:UnspecifiedMatching MONDO:0100116 Middle East respiratory syndrome skos:exactMatch UMLS:C3694279 semapv:UnspecifiedMatching MONDO:0100116 Middle East respiratory syndrome skos:exactMatch icd11.foundation:1840423014 Middle East respiratory syndrome semapv:UnspecifiedMatching MONDO:0100118 hereditary skin disorder skos:exactMatch SCTID:239001006 semapv:UnspecifiedMatching MONDO:0100118 hereditary skin disorder skos:exactMatch mesh:D012873 semapv:UnspecifiedMatching MONDO:0100119 Knobloch syndrome 2 skos:exactMatch MEDGEN:1812153 semapv:UnspecifiedMatching MONDO:0100119 Knobloch syndrome 2 skos:exactMatch OMIM:618458 knobloch syndrome 2 semapv:UnspecifiedMatching MONDO:0100119 Knobloch syndrome 2 skos:exactMatch UMLS:C5676897 semapv:UnspecifiedMatching MONDO:0100120 vector-borne disease skos:exactMatch MEDGEN:738484 semapv:UnspecifiedMatching MONDO:0100120 vector-borne disease skos:exactMatch UMLS:C1640363 semapv:UnspecifiedMatching MONDO:0100120 vector-borne disease skos:exactMatch mesh:D000079426 semapv:UnspecifiedMatching MONDO:0100125 hallucinogen-persisting perception disorder skos:exactMatch MEDGEN:536590 semapv:UnspecifiedMatching MONDO:0100125 hallucinogen-persisting perception disorder skos:exactMatch UMLS:C0236720 semapv:UnspecifiedMatching MONDO:0100127 toxic bronchiolitis obliterans skos:exactMatch MEDGEN:573502 semapv:UnspecifiedMatching MONDO:0100127 toxic bronchiolitis obliterans skos:exactMatch SCTID:196027008 semapv:UnspecifiedMatching MONDO:0100127 toxic bronchiolitis obliterans skos:exactMatch UMLS:C0340046 semapv:UnspecifiedMatching MONDO:0100128 coinfection skos:exactMatch MEDGEN:452372 semapv:UnspecifiedMatching MONDO:0100128 coinfection skos:exactMatch UMLS:C0275524 semapv:UnspecifiedMatching MONDO:0100128 coinfection skos:exactMatch mesh:D060085 semapv:UnspecifiedMatching MONDO:0100129 intracranial arachoid cyst skos:exactMatch MEDGEN:148353 semapv:UnspecifiedMatching MONDO:0100129 intracranial arachoid cyst skos:exactMatch OMIM:207790 arachnoid cysts, intracranial semapv:UnspecifiedMatching MONDO:0100129 intracranial arachoid cyst skos:exactMatch UMLS:C0751615 semapv:UnspecifiedMatching MONDO:0100130 adult acute respiratory distress syndrome skos:exactMatch DOID:11394 adult respiratory distress syndrome semapv:UnspecifiedMatching MONDO:0100130 adult acute respiratory distress syndrome skos:exactMatch MEDGEN:20540 semapv:UnspecifiedMatching MONDO:0100130 adult acute respiratory distress syndrome skos:exactMatch Orphanet:70578 Adult acute respiratory distress syndrome semapv:UnspecifiedMatching MONDO:0100130 adult acute respiratory distress syndrome skos:exactMatch SCTID:67782005 semapv:UnspecifiedMatching MONDO:0100130 adult acute respiratory distress syndrome skos:exactMatch UMLS:C0035222 semapv:UnspecifiedMatching MONDO:0100130 adult acute respiratory distress syndrome skos:exactMatch icd11.foundation:1466842111 Adult acute respiratory distress syndrome semapv:UnspecifiedMatching MONDO:0100130 adult acute respiratory distress syndrome skos:exactMatch mesh:D012128 semapv:UnspecifiedMatching MONDO:0100131 pediatric acute respiratory distress syndrome skos:exactMatch MEDGEN:1876564 semapv:UnspecifiedMatching MONDO:0100131 pediatric acute respiratory distress syndrome skos:exactMatch Orphanet:685082 Pediatric acute respiratory distress syndrome semapv:UnspecifiedMatching MONDO:0100131 pediatric acute respiratory distress syndrome skos:exactMatch UMLS:C6012346 semapv:UnspecifiedMatching MONDO:0100133 mitochondrial complex I deficiency skos:exactMatch DOID:0060536 mitochondrial complex I deficiency semapv:UnspecifiedMatching MONDO:0100133 mitochondrial complex I deficiency skos:exactMatch MEDGEN:374101 semapv:UnspecifiedMatching MONDO:0100133 mitochondrial complex I deficiency skos:exactMatch Orphanet:2609 Isolated complex I deficiency semapv:UnspecifiedMatching MONDO:0100133 mitochondrial complex I deficiency skos:exactMatch UMLS:C1838979 semapv:UnspecifiedMatching MONDO:0100133 mitochondrial complex I deficiency skos:exactMatch mesh:C537475 semapv:UnspecifiedMatching MONDO:0100135 Dravet syndrome skos:exactMatch DOID:0080422 Dravet syndrome semapv:UnspecifiedMatching MONDO:0100135 Dravet syndrome skos:exactMatch ICD10CM:G40.83 Dravet syndrome semapv:UnspecifiedMatching MONDO:0100135 Dravet syndrome skos:exactMatch MEDGEN:148243 semapv:UnspecifiedMatching MONDO:0100135 Dravet syndrome skos:exactMatch NCIT:C116573 Dravet Syndrome semapv:UnspecifiedMatching MONDO:0100135 Dravet syndrome skos:exactMatch SCTID:230437002 semapv:UnspecifiedMatching MONDO:0100135 Dravet syndrome skos:exactMatch UMLS:C0751122 semapv:UnspecifiedMatching MONDO:0100135 Dravet syndrome skos:exactMatch icd11.foundation:1255654700 Dravet syndrome semapv:UnspecifiedMatching MONDO:0100137 telomere syndrome skos:exactMatch MEDGEN:1668986 semapv:UnspecifiedMatching MONDO:0100137 telomere syndrome skos:exactMatch NCIT:C152065 Telomere Syndrome semapv:UnspecifiedMatching MONDO:0100137 telomere syndrome skos:exactMatch UMLS:C4727832 semapv:UnspecifiedMatching MONDO:0100140 obsolete mild COVID-19 infection skos:exactMatch DOID:0081014 non-severe COVID-19 semapv:UnspecifiedMatching MONDO:0100142 obsolete severe COVID-19 infection skos:exactMatch DOID:0081013 severe COVID-19 semapv:UnspecifiedMatching MONDO:0100143 obsolete critical COVID-19 infection skos:exactMatch DOID:0081012 critical COVID-19 semapv:UnspecifiedMatching MONDO:0100147 SATB2 associated disorder skos:exactMatch Orphanet:576278 SATB2-associated syndrome semapv:UnspecifiedMatching MONDO:0100150 RYR1-related myopathy skos:exactMatch Orphanet:98742 Neurological muscular channelopathy due to a genetic ryanodine receptor defect semapv:UnspecifiedMatching MONDO:0100151 nephropathic cystinosis skos:exactMatch MEDGEN:419735 semapv:UnspecifiedMatching MONDO:0100151 nephropathic cystinosis skos:exactMatch NCIT:C129932 Nephropathic Cystinosis semapv:UnspecifiedMatching MONDO:0100151 nephropathic cystinosis skos:exactMatch OMIM:219800 cystinosis, nephropathic semapv:UnspecifiedMatching MONDO:0100151 nephropathic cystinosis skos:exactMatch UMLS:C2931187 semapv:UnspecifiedMatching MONDO:0100151 nephropathic cystinosis skos:exactMatch icd11.foundation:810546659 Nephropathic cystinosis semapv:UnspecifiedMatching MONDO:0100151 nephropathic cystinosis skos:exactMatch mesh:C535335 semapv:UnspecifiedMatching MONDO:0100153 tubulinopathy skos:exactMatch DOID:0112227 tubulinopathy semapv:UnspecifiedMatching MONDO:0100156 Imerslund-Grasbeck syndrome type 1 skos:exactMatch MEDGEN:865256 semapv:UnspecifiedMatching MONDO:0100156 Imerslund-Grasbeck syndrome type 1 skos:exactMatch NCIT:C131677 Megaloblastic Anemia 1 semapv:UnspecifiedMatching MONDO:0100156 Imerslund-Grasbeck syndrome type 1 skos:exactMatch OMIM:261100 imerslund-grasbeck syndrome 1 semapv:UnspecifiedMatching MONDO:0100156 Imerslund-Grasbeck syndrome type 1 skos:exactMatch UMLS:C4016819 semapv:UnspecifiedMatching MONDO:0100157 Imerslund-Grasbeck syndrome type 2 skos:exactMatch MEDGEN:865385 semapv:UnspecifiedMatching MONDO:0100157 Imerslund-Grasbeck syndrome type 2 skos:exactMatch OMIM:618882 imerslund-grasbeck syndrome 2 semapv:UnspecifiedMatching MONDO:0100157 Imerslund-Grasbeck syndrome type 2 skos:exactMatch UMLS:C4016948 semapv:UnspecifiedMatching MONDO:0100159 pulmonary hypertension, neonatal skos:exactMatch NCIT:C4732 Neonatal Hypertension semapv:UnspecifiedMatching MONDO:0100160 alcoholic ketoacidosis skos:exactMatch DOID:0080949 alcoholic ketoacidosis semapv:UnspecifiedMatching MONDO:0100160 alcoholic ketoacidosis skos:exactMatch MEDGEN:541151 semapv:UnspecifiedMatching MONDO:0100160 alcoholic ketoacidosis skos:exactMatch UMLS:C0268039 semapv:UnspecifiedMatching MONDO:0100161 hyperkalemic renal tubular acidosis skos:exactMatch MEDGEN:87662 semapv:UnspecifiedMatching MONDO:0100161 hyperkalemic renal tubular acidosis skos:exactMatch UMLS:C0376185 semapv:UnspecifiedMatching MONDO:0100163 COVID-19–associated multisystem inflammatory syndrome in children skos:exactMatch DOID:0080711 multisystem inflammatory syndrome in children semapv:UnspecifiedMatching MONDO:0100163 COVID-19–associated multisystem inflammatory syndrome in children skos:exactMatch NCIT:C172127 Multisystem Inflammatory Syndrome in Children semapv:UnspecifiedMatching MONDO:0100164 permanent neonatal diabetes mellitus skos:exactMatch DOID:0060639 permanent neonatal diabetes mellitus semapv:UnspecifiedMatching MONDO:0100164 permanent neonatal diabetes mellitus skos:exactMatch MEDGEN:371484 semapv:UnspecifiedMatching MONDO:0100164 permanent neonatal diabetes mellitus skos:exactMatch NCIT:C114902 Permanent Neonatal Diabetes Mellitus semapv:UnspecifiedMatching MONDO:0100164 permanent neonatal diabetes mellitus skos:exactMatch OMIMPS:606176 Diabetes mellitus, permanent neonatal semapv:UnspecifiedMatching MONDO:0100164 permanent neonatal diabetes mellitus skos:exactMatch Orphanet:99885 Isolated permanent neonatal diabetes mellitus semapv:UnspecifiedMatching MONDO:0100164 permanent neonatal diabetes mellitus skos:exactMatch SCTID:609565001 semapv:UnspecifiedMatching MONDO:0100164 permanent neonatal diabetes mellitus skos:exactMatch UMLS:C1833104 semapv:UnspecifiedMatching MONDO:0100164 permanent neonatal diabetes mellitus skos:exactMatch icd11.foundation:33655955 Permanent neonatal diabetes mellitus semapv:UnspecifiedMatching MONDO:0100164 permanent neonatal diabetes mellitus skos:exactMatch mesh:C563425 semapv:UnspecifiedMatching MONDO:0100165 permanent neonatal diabetes mellitus 1 skos:exactMatch MEDGEN:1717586 semapv:UnspecifiedMatching MONDO:0100165 permanent neonatal diabetes mellitus 1 skos:exactMatch OMIM:606176 diabetes mellitus, permanent neonatal, 1 semapv:UnspecifiedMatching MONDO:0100165 permanent neonatal diabetes mellitus 1 skos:exactMatch UMLS:C5393570 semapv:UnspecifiedMatching MONDO:0100167 pulmonary disease, chronic obstructive, susceptibility to skos:exactMatch MEDGEN:854229 semapv:UnspecifiedMatching MONDO:0100167 pulmonary disease, chronic obstructive, susceptibility to skos:exactMatch UMLS:C3838076 semapv:UnspecifiedMatching MONDO:0100168 desmoid tumor caused by somatic mutation skos:exactMatch DOID:0111349 hereditary desmoid disease semapv:UnspecifiedMatching MONDO:0100168 desmoid tumor caused by somatic mutation skos:exactMatch MEDGEN:436434 semapv:UnspecifiedMatching MONDO:0100168 desmoid tumor caused by somatic mutation skos:exactMatch UMLS:C2675440 semapv:UnspecifiedMatching MONDO:0100170 restless legs syndrome, susceptibility to skos:exactMatch OMIMPS:102300 Restless legs syndrome semapv:UnspecifiedMatching MONDO:0100172 intellectual disability, autosomal dominant skos:exactMatch OMIMPS:156200 Intellectual developmental disorder, autosomal dominant semapv:UnspecifiedMatching MONDO:0100173 leukemia, acute myeloid, susceptibility to skos:exactMatch MEDGEN:477590 semapv:UnspecifiedMatching MONDO:0100173 leukemia, acute myeloid, susceptibility to skos:exactMatch UMLS:C3275959 semapv:UnspecifiedMatching MONDO:0100176 AP-4 deficiency syndrome skos:exactMatch MEDGEN:1663055 semapv:UnspecifiedMatching MONDO:0100176 AP-4 deficiency syndrome skos:exactMatch Orphanet:280763 Severe intellectual disability and progressive spastic paraplegia semapv:UnspecifiedMatching MONDO:0100176 AP-4 deficiency syndrome skos:exactMatch UMLS:C4755264 semapv:UnspecifiedMatching MONDO:0100177 allergic rhinitis, susceptibility to skos:exactMatch MEDGEN:865977 semapv:UnspecifiedMatching MONDO:0100177 allergic rhinitis, susceptibility to skos:exactMatch OMIM:607154 allergic rhinitis semapv:UnspecifiedMatching MONDO:0100177 allergic rhinitis, susceptibility to skos:exactMatch UMLS:C4017540 semapv:UnspecifiedMatching MONDO:0100178 dermatitis, atopic, susceptibility to skos:exactMatch OMIMPS:603165 Dermatitis, atopic semapv:UnspecifiedMatching MONDO:0100180 diabetes mellitus, ketosis-prone skos:exactMatch MEDGEN:1381503 semapv:UnspecifiedMatching MONDO:0100180 diabetes mellitus, ketosis-prone skos:exactMatch OMIM:612227 diabetes mellitus, ketosis-prone semapv:UnspecifiedMatching MONDO:0100180 diabetes mellitus, ketosis-prone skos:exactMatch UMLS:C3837958 semapv:UnspecifiedMatching MONDO:0100182 schizophrenia, susceptibility to skos:exactMatch MEDGEN:390920 semapv:UnspecifiedMatching MONDO:0100182 schizophrenia, susceptibility to skos:exactMatch UMLS:C2675945 semapv:UnspecifiedMatching MONDO:0100183 radioulnar synostosis, nonsyndromic, susceptibility to skos:exactMatch MEDGEN:1712799 semapv:UnspecifiedMatching MONDO:0100183 radioulnar synostosis, nonsyndromic, susceptibility to skos:exactMatch OMIM:179300 radioulnar synostosis, nonsyndromic, susceptibility to semapv:UnspecifiedMatching MONDO:0100183 radioulnar synostosis, nonsyndromic, susceptibility to skos:exactMatch UMLS:C5241445 semapv:UnspecifiedMatching MONDO:0100184 GTP cyclohydrolase I deficiency skos:exactMatch MEDGEN:75683 semapv:UnspecifiedMatching MONDO:0100184 GTP cyclohydrolase I deficiency skos:exactMatch UMLS:C0268467 semapv:UnspecifiedMatching MONDO:0100185 immune reconstitution inflammatory syndrome skos:exactMatch ICD10CM:D89.3 Immune reconstitution syndrome semapv:UnspecifiedMatching MONDO:0100185 immune reconstitution inflammatory syndrome skos:exactMatch MEDGEN:295297 semapv:UnspecifiedMatching MONDO:0100185 immune reconstitution inflammatory syndrome skos:exactMatch UMLS:C1619738 semapv:UnspecifiedMatching MONDO:0100185 immune reconstitution inflammatory syndrome skos:exactMatch icd11.foundation:180703474 Immune reconstitution inflammatory syndrome semapv:UnspecifiedMatching MONDO:0100185 immune reconstitution inflammatory syndrome skos:exactMatch mesh:D054019 semapv:UnspecifiedMatching MONDO:0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia skos:exactMatch DOID:0112225 BH4-deficient hyperphenylalaninemia B semapv:UnspecifiedMatching MONDO:0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia skos:exactMatch NCIT:C141442 GTP Cyclohydrolase I Deficiency semapv:UnspecifiedMatching MONDO:0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia skos:exactMatch OMIM:233910 hyperphenylalaninemia, bh4-deficient, B semapv:UnspecifiedMatching MONDO:0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia skos:exactMatch Orphanet:2102 GTP cyclohydrolase I deficiency semapv:UnspecifiedMatching MONDO:0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia skos:exactMatch SCTID:23447005 semapv:UnspecifiedMatching MONDO:0100187 opioid-induced constipation skos:exactMatch MEDGEN:1641995 semapv:UnspecifiedMatching MONDO:0100187 opioid-induced constipation skos:exactMatch UMLS:C3160897 semapv:UnspecifiedMatching MONDO:0100190 gastric intestinal metaplasia skos:exactMatch ICD10CM:K31.A Gastric intestinal metaplasia semapv:UnspecifiedMatching MONDO:0100190 gastric intestinal metaplasia skos:exactMatch MEDGEN:75629 semapv:UnspecifiedMatching MONDO:0100190 gastric intestinal metaplasia skos:exactMatch UMLS:C0267187 semapv:UnspecifiedMatching MONDO:0100192 liver failure skos:exactMatch MEDGEN:88444 semapv:UnspecifiedMatching MONDO:0100192 liver failure skos:exactMatch NCIT:C26922 Liver Failure semapv:UnspecifiedMatching MONDO:0100192 liver failure skos:exactMatch UMLS:C0085605 semapv:UnspecifiedMatching MONDO:0100192 liver failure skos:exactMatch mesh:D017093 semapv:UnspecifiedMatching MONDO:0100193 chronic liver failure skos:exactMatch ICD10CM:K72.1 Chronic hepatic failure semapv:UnspecifiedMatching MONDO:0100193 chronic liver failure skos:exactMatch MEDGEN:423539 semapv:UnspecifiedMatching MONDO:0100193 chronic liver failure skos:exactMatch NCIT:C84428 End Stage Liver Disease semapv:UnspecifiedMatching MONDO:0100193 chronic liver failure skos:exactMatch UMLS:C2936476 semapv:UnspecifiedMatching MONDO:0100193 chronic liver failure skos:exactMatch icd11.foundation:282512557 Chronic hepatic failure semapv:UnspecifiedMatching MONDO:0100201 lumbar disk disease skos:exactMatch MEDGEN:67462 semapv:UnspecifiedMatching MONDO:0100201 lumbar disk disease skos:exactMatch UMLS:C0221775 semapv:UnspecifiedMatching MONDO:0100202 lumbar disk herniation, susceptibility to skos:exactMatch MEDGEN:393597 semapv:UnspecifiedMatching MONDO:0100202 lumbar disk herniation, susceptibility to skos:exactMatch UMLS:C2676840 semapv:UnspecifiedMatching MONDO:0100206 lumbar disk degeneration, susceptibility to skos:exactMatch MEDGEN:390827 semapv:UnspecifiedMatching MONDO:0100206 lumbar disk degeneration, susceptibility to skos:exactMatch UMLS:C2675551 semapv:UnspecifiedMatching MONDO:0100208 self-limited familial neonatal-infantile epilepsy skos:exactMatch MEDGEN:1803744 semapv:UnspecifiedMatching MONDO:0100208 self-limited familial neonatal-infantile epilepsy skos:exactMatch UMLS:C5671283 semapv:UnspecifiedMatching MONDO:0100210 growth hormone insensitivity syndrome with immune dysregulation skos:exactMatch OMIMPS:245590 Growth hormone insensitivity syndrome with immune dysregulation semapv:UnspecifiedMatching MONDO:0100211 growth hormone insensitivity with immune dysregulation 1, autosomal recessive skos:exactMatch DOID:0080836 growth hormone insensitivity syndrome with immune dysregulation 1 semapv:UnspecifiedMatching MONDO:0100211 growth hormone insensitivity with immune dysregulation 1, autosomal recessive skos:exactMatch MEDGEN:1734133 semapv:UnspecifiedMatching MONDO:0100211 growth hormone insensitivity with immune dysregulation 1, autosomal recessive skos:exactMatch OMIM:245590 growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive semapv:UnspecifiedMatching MONDO:0100211 growth hormone insensitivity with immune dysregulation 1, autosomal recessive skos:exactMatch Orphanet:220465 Laron syndrome with immunodeficiency semapv:UnspecifiedMatching MONDO:0100211 growth hormone insensitivity with immune dysregulation 1, autosomal recessive skos:exactMatch SCTID:724179008 semapv:UnspecifiedMatching MONDO:0100211 growth hormone insensitivity with immune dysregulation 1, autosomal recessive skos:exactMatch UMLS:C5435698 semapv:UnspecifiedMatching MONDO:0100211 growth hormone insensitivity with immune dysregulation 1, autosomal recessive skos:exactMatch mesh:C537871 semapv:UnspecifiedMatching MONDO:0100212 IFAP syndrome skos:exactMatch MEDGEN:327007 semapv:UnspecifiedMatching MONDO:0100212 IFAP syndrome skos:exactMatch OMIMPS:308205 IFAP syndrome semapv:UnspecifiedMatching MONDO:0100212 IFAP syndrome skos:exactMatch Orphanet:2273 Ichthyosis follicularis-alopecia-photophobia syndrome semapv:UnspecifiedMatching MONDO:0100212 IFAP syndrome skos:exactMatch UMLS:C1839988 semapv:UnspecifiedMatching MONDO:0100213 IFAP syndrome 1, with or without BRESHECK syndrome skos:exactMatch DOID:0111821 ichthyosis follicularis-alopecia-photophobia syndrome 1 semapv:UnspecifiedMatching MONDO:0100213 IFAP syndrome 1, with or without BRESHECK syndrome skos:exactMatch MEDGEN:1746744 semapv:UnspecifiedMatching MONDO:0100213 IFAP syndrome 1, with or without BRESHECK syndrome skos:exactMatch OMIM:308205 ifap syndrome 1, with or without bresheck syndrome semapv:UnspecifiedMatching MONDO:0100213 IFAP syndrome 1, with or without BRESHECK syndrome skos:exactMatch UMLS:C5399971 semapv:UnspecifiedMatching MONDO:0100213 IFAP syndrome 1, with or without BRESHECK syndrome skos:exactMatch mesh:C536085 semapv:UnspecifiedMatching MONDO:0100214 Rajab interstitial lung disease with brain calcifications skos:exactMatch MEDGEN:462260 semapv:UnspecifiedMatching MONDO:0100214 Rajab interstitial lung disease with brain calcifications skos:exactMatch OMIMPS:613658 Rajab interstitial lung disease with brain calcifications semapv:UnspecifiedMatching MONDO:0100214 Rajab interstitial lung disease with brain calcifications skos:exactMatch UMLS:C3150910 semapv:UnspecifiedMatching MONDO:0100215 Rajab interstitial lung disease with brain calcifications 1 skos:exactMatch MEDGEN:1750003 semapv:UnspecifiedMatching MONDO:0100215 Rajab interstitial lung disease with brain calcifications 1 skos:exactMatch OMIM:613658 rajab interstitial lung disease with brain calcifications 1 semapv:UnspecifiedMatching MONDO:0100215 Rajab interstitial lung disease with brain calcifications 1 skos:exactMatch Orphanet:178506 Brain calcification, Rajab type semapv:UnspecifiedMatching MONDO:0100215 Rajab interstitial lung disease with brain calcifications 1 skos:exactMatch SCTID:720576001 semapv:UnspecifiedMatching MONDO:0100215 Rajab interstitial lung disease with brain calcifications 1 skos:exactMatch UMLS:C5436276 semapv:UnspecifiedMatching MONDO:0100216 DICER1-related tumor predisposition skos:exactMatch DOID:0081063 DICER1 syndrome semapv:UnspecifiedMatching MONDO:0100216 DICER1-related tumor predisposition skos:exactMatch MEDGEN:825667 semapv:UnspecifiedMatching MONDO:0100216 DICER1-related tumor predisposition skos:exactMatch NCIT:C123317 DICER1 Syndrome semapv:UnspecifiedMatching MONDO:0100216 DICER1-related tumor predisposition skos:exactMatch Orphanet:284343 DICER1 tumor-predisposition syndrome semapv:UnspecifiedMatching MONDO:0100216 DICER1-related tumor predisposition skos:exactMatch SCTID:702411003 semapv:UnspecifiedMatching MONDO:0100216 DICER1-related tumor predisposition skos:exactMatch UMLS:C3839822 semapv:UnspecifiedMatching MONDO:0100217 developmental delay with short stature, dysmorphic facial features, and sparse hair 2 skos:exactMatch DOID:0070478 diphthamide deficiency syndrome 2 semapv:UnspecifiedMatching MONDO:0100217 developmental delay with short stature, dysmorphic facial features, and sparse hair 2 skos:exactMatch MEDGEN:1823996 semapv:UnspecifiedMatching MONDO:0100217 developmental delay with short stature, dysmorphic facial features, and sparse hair 2 skos:exactMatch OMIM:620062 developmental delay with short stature, dysmorphic facial features, and sparse hair 2 semapv:UnspecifiedMatching MONDO:0100217 developmental delay with short stature, dysmorphic facial features, and sparse hair 2 skos:exactMatch UMLS:C5774223 semapv:UnspecifiedMatching MONDO:0100218 arthrogryposis multiplex congenita 5 skos:exactMatch DOID:0080981 arthrogryposis multiplex congenita-5 semapv:UnspecifiedMatching MONDO:0100218 arthrogryposis multiplex congenita 5 skos:exactMatch MEDGEN:1731112 semapv:UnspecifiedMatching MONDO:0100218 arthrogryposis multiplex congenita 5 skos:exactMatch OMIM:618947 arthrogryposis multiplex congenita 5 semapv:UnspecifiedMatching MONDO:0100218 arthrogryposis multiplex congenita 5 skos:exactMatch UMLS:C5436453 semapv:UnspecifiedMatching MONDO:0100219 growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant skos:exactMatch DOID:0080837 growth hormone insensitivity syndrome with immune dysregulation 2 semapv:UnspecifiedMatching MONDO:0100219 growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant skos:exactMatch MEDGEN:1723138 semapv:UnspecifiedMatching MONDO:0100219 growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant skos:exactMatch OMIM:618985 growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant semapv:UnspecifiedMatching MONDO:0100219 growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant skos:exactMatch UMLS:C5436546 semapv:UnspecifiedMatching MONDO:0100220 Rajab interstitial lung disease with brain calcifications 2 skos:exactMatch MEDGEN:1770895 semapv:UnspecifiedMatching MONDO:0100220 Rajab interstitial lung disease with brain calcifications 2 skos:exactMatch OMIM:619013 rajab interstitial lung disease with brain calcifications 2 semapv:UnspecifiedMatching MONDO:0100220 Rajab interstitial lung disease with brain calcifications 2 skos:exactMatch UMLS:C5436603 semapv:UnspecifiedMatching MONDO:0100221 IFAP syndrome 2 skos:exactMatch MEDGEN:1763502 semapv:UnspecifiedMatching MONDO:0100221 IFAP syndrome 2 skos:exactMatch OMIM:619016 ifap syndrome 2 semapv:UnspecifiedMatching MONDO:0100221 IFAP syndrome 2 skos:exactMatch UMLS:C5436607 semapv:UnspecifiedMatching MONDO:0100222 A20 haploinsufficiency skos:exactMatch MEDGEN:1845429 semapv:UnspecifiedMatching MONDO:0100222 A20 haploinsufficiency skos:exactMatch UMLS:C5849639 semapv:UnspecifiedMatching MONDO:0100223 mitochondrial complex I deficiency, nuclear type skos:exactMatch DOID:0112065 nuclear type mitochondrial complex I deficiency semapv:UnspecifiedMatching MONDO:0100223 mitochondrial complex I deficiency, nuclear type skos:exactMatch OMIMPS:252010 Mitochondrial complex I deficiency, nuclear type semapv:UnspecifiedMatching MONDO:0100224 mitochondrial complex I deficiency, nuclear type 1 skos:exactMatch DOID:0112074 nuclear type mitochondrial complex I deficiency 1 semapv:UnspecifiedMatching MONDO:0100224 mitochondrial complex I deficiency, nuclear type 1 skos:exactMatch OMIM:252010 mitochondrial complex 1 deficiency, nuclear type 1 semapv:UnspecifiedMatching MONDO:0100226 parasomnia, sleepwalking type skos:exactMatch MEDGEN:462713 semapv:UnspecifiedMatching MONDO:0100226 parasomnia, sleepwalking type skos:exactMatch OMIM:613938 parasomnia, sleepwalking type semapv:UnspecifiedMatching MONDO:0100226 parasomnia, sleepwalking type skos:exactMatch UMLS:C3151363 semapv:UnspecifiedMatching MONDO:0100226 parasomnia, sleepwalking type skos:exactMatch mesh:D013009 semapv:UnspecifiedMatching MONDO:0100228 LAMA2-related muscular dystrophy skos:exactMatch MEDGEN:1826054 semapv:UnspecifiedMatching MONDO:0100228 LAMA2-related muscular dystrophy skos:exactMatch UMLS:C5679788 semapv:UnspecifiedMatching MONDO:0100229 obsolete Heimler syndrome skos:exactMatch Orphanet:3220 Deafness-enamel hypoplasia-nail defects syndrome semapv:UnspecifiedMatching MONDO:0100229 obsolete Heimler syndrome skos:exactMatch SCTID:721085000 semapv:UnspecifiedMatching MONDO:0100229 obsolete Heimler syndrome skos:exactMatch mesh:C535994 semapv:UnspecifiedMatching MONDO:0100231 psoriatic arthritis, susceptibility to, 1 skos:exactMatch MEDGEN:375279 semapv:UnspecifiedMatching MONDO:0100231 psoriatic arthritis, susceptibility to, 1 skos:exactMatch UMLS:C1843772 semapv:UnspecifiedMatching MONDO:0100232 psoriatic arthritis, susceptibility to skos:exactMatch MEDGEN:322604 semapv:UnspecifiedMatching MONDO:0100232 psoriatic arthritis, susceptibility to skos:exactMatch OMIM:607507 psoriatic arthritis, susceptibility to semapv:UnspecifiedMatching MONDO:0100232 psoriatic arthritis, susceptibility to skos:exactMatch UMLS:C1835223 semapv:UnspecifiedMatching MONDO:0100233 long COVID-19 skos:exactMatch DOID:0080848 long COVID semapv:UnspecifiedMatching MONDO:0100233 long COVID-19 skos:exactMatch MEDGEN:1735839 semapv:UnspecifiedMatching MONDO:0100233 long COVID-19 skos:exactMatch MedDRA:10085504 semapv:UnspecifiedMatching MONDO:0100233 long COVID-19 skos:exactMatch NCIT:C179263 Post-Acute Sequelae of COVID-19 semapv:UnspecifiedMatching MONDO:0100233 long COVID-19 skos:exactMatch UMLS:C5433293 semapv:UnspecifiedMatching MONDO:0100233 long COVID-19 skos:exactMatch mesh:D000094024 semapv:UnspecifiedMatching MONDO:0100234 paroxysmal familial ventricular fibrillation skos:exactMatch MEDGEN:83310 semapv:UnspecifiedMatching MONDO:0100234 paroxysmal familial ventricular fibrillation skos:exactMatch Orphanet:228140 Idiopathic ventricular fibrillation semapv:UnspecifiedMatching MONDO:0100234 paroxysmal familial ventricular fibrillation skos:exactMatch UMLS:C0340493 semapv:UnspecifiedMatching MONDO:0100237 inherited cutis laxa skos:exactMatch MEDGEN:609465 semapv:UnspecifiedMatching MONDO:0100237 inherited cutis laxa skos:exactMatch OMIMPS:123700 Cutis laxa semapv:UnspecifiedMatching MONDO:0100237 inherited cutis laxa skos:exactMatch UMLS:C0432334 semapv:UnspecifiedMatching MONDO:0100238 inherited Fanconi renotubular syndrome skos:exactMatch OMIMPS:134600 Fanconi renotubular syndrome semapv:UnspecifiedMatching MONDO:0100239 inherited hypertrophic pyloric stenosis skos:exactMatch MEDGEN:196010 semapv:UnspecifiedMatching MONDO:0100239 inherited hypertrophic pyloric stenosis skos:exactMatch OMIMPS:179010 Pyloric stenosis, infantile hypertrophic semapv:UnspecifiedMatching MONDO:0100239 inherited hypertrophic pyloric stenosis skos:exactMatch UMLS:C0700639 semapv:UnspecifiedMatching MONDO:0100240 inherited thrombophilia skos:exactMatch MEDGEN:391721 semapv:UnspecifiedMatching MONDO:0100240 inherited thrombophilia skos:exactMatch OMIMPS:188050 Thrombophilia semapv:UnspecifiedMatching MONDO:0100240 inherited thrombophilia skos:exactMatch UMLS:C2584620 semapv:UnspecifiedMatching MONDO:0100241 inherited thrombocytopenia skos:exactMatch OMIMPS:313900 Thrombocytopenia semapv:UnspecifiedMatching MONDO:0100242 glioma susceptibility skos:exactMatch OMIMPS:137800 Glioma semapv:UnspecifiedMatching MONDO:0100244 paroxysmal nocturnal hemoglobinuria skos:exactMatch DOID:0060284 paroxysmal nocturnal hemoglobinuria semapv:UnspecifiedMatching MONDO:0100244 paroxysmal nocturnal hemoglobinuria skos:exactMatch ICD10CM:D59.5 Paroxysmal nocturnal hemoglobinuria [Marchiafava-Micheli] semapv:UnspecifiedMatching MONDO:0100244 paroxysmal nocturnal hemoglobinuria skos:exactMatch MEDGEN:7471 semapv:UnspecifiedMatching MONDO:0100244 paroxysmal nocturnal hemoglobinuria skos:exactMatch NCIT:C61233 Paroxysmal Nocturnal Hemoglobinuria semapv:UnspecifiedMatching MONDO:0100244 paroxysmal nocturnal hemoglobinuria skos:exactMatch OMIMPS:300818 Paroxysmal nocturnal hemoglobinuria semapv:UnspecifiedMatching MONDO:0100244 paroxysmal nocturnal hemoglobinuria skos:exactMatch Orphanet:447 Paroxysmal nocturnal hemoglobinuria semapv:UnspecifiedMatching MONDO:0100244 paroxysmal nocturnal hemoglobinuria skos:exactMatch SCTID:1963002 semapv:UnspecifiedMatching MONDO:0100244 paroxysmal nocturnal hemoglobinuria skos:exactMatch UMLS:C0024790 semapv:UnspecifiedMatching MONDO:0100244 paroxysmal nocturnal hemoglobinuria skos:exactMatch icd11.foundation:859588467 Paroxysmal nocturnal haemoglobinuria semapv:UnspecifiedMatching MONDO:0100246 migraine with or without aura, susceptibility to skos:exactMatch OMIMPS:157300 Migraine with or without aura, susceptibility to semapv:UnspecifiedMatching MONDO:0100247 multiple congenital anomalies-hypotonia-seizures syndrome skos:exactMatch DOID:0080503 multiple congenital anomalies-hypotonia-seizures syndrome semapv:UnspecifiedMatching MONDO:0100247 multiple congenital anomalies-hypotonia-seizures syndrome skos:exactMatch MEDGEN:1683744 semapv:UnspecifiedMatching MONDO:0100247 multiple congenital anomalies-hypotonia-seizures syndrome skos:exactMatch OMIMPS:614080 Multiple congenital anomalies-hypotonia-seizures syndrome semapv:UnspecifiedMatching MONDO:0100247 multiple congenital anomalies-hypotonia-seizures syndrome skos:exactMatch UMLS:C5191419 semapv:UnspecifiedMatching MONDO:0100249 46,XX testicular disorder of sex development skos:exactMatch DOID:0111760 46,XX sex reversal semapv:UnspecifiedMatching MONDO:0100249 46,XX testicular disorder of sex development skos:exactMatch MEDGEN:424734 semapv:UnspecifiedMatching MONDO:0100249 46,XX testicular disorder of sex development skos:exactMatch NCIT:C127170 46,XX Testicular Differences of Sex Development semapv:UnspecifiedMatching MONDO:0100249 46,XX testicular disorder of sex development skos:exactMatch Orphanet:393 46,XX testicular difference of sex development semapv:UnspecifiedMatching MONDO:0100249 46,XX testicular disorder of sex development skos:exactMatch UMLS:C2936419 semapv:UnspecifiedMatching MONDO:0100249 46,XX testicular disorder of sex development skos:exactMatch icd11.foundation:1357942532 46,XX testicular disorder of sex development semapv:UnspecifiedMatching MONDO:0100249 46,XX testicular disorder of sex development skos:exactMatch mesh:D058531 semapv:UnspecifiedMatching MONDO:0100250 46,XX sex reversal 1 skos:exactMatch DOID:0111761 46,XX sex reversal 1 semapv:UnspecifiedMatching MONDO:0100250 46,XX sex reversal 1 skos:exactMatch MEDGEN:411324 semapv:UnspecifiedMatching MONDO:0100250 46,XX sex reversal 1 skos:exactMatch NCIT:C179867 46,XX Sex Reversal 1 semapv:UnspecifiedMatching MONDO:0100250 46,XX sex reversal 1 skos:exactMatch OMIM:400045 46,xx sex reversal 1 semapv:UnspecifiedMatching MONDO:0100250 46,XX sex reversal 1 skos:exactMatch UMLS:C2748895 semapv:UnspecifiedMatching MONDO:0100251 familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome skos:exactMatch DOID:0111063 hyperphosphatemic familial tumoral calcinosis semapv:UnspecifiedMatching MONDO:0100251 familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome skos:exactMatch MEDGEN:360297 semapv:UnspecifiedMatching MONDO:0100251 familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome skos:exactMatch NCIT:C131851 Hyperphosphatemic Familial Tumoral Calcinosis semapv:UnspecifiedMatching MONDO:0100251 familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome skos:exactMatch Orphanet:306661 Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome semapv:UnspecifiedMatching MONDO:0100251 familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome skos:exactMatch UMLS:C1876187 semapv:UnspecifiedMatching MONDO:0100252 tumoral calcinosis, hyperphosphatemic, familial, 1 skos:exactMatch MEDGEN:1642611 semapv:UnspecifiedMatching MONDO:0100252 tumoral calcinosis, hyperphosphatemic, familial, 1 skos:exactMatch OMIM:211900 tumoral calcinosis, hyperphosphatemic, familial, 1 semapv:UnspecifiedMatching MONDO:0100252 tumoral calcinosis, hyperphosphatemic, familial, 1 skos:exactMatch UMLS:C4692564 semapv:UnspecifiedMatching MONDO:0100253 Roberts-SC phocomelia syndrome skos:exactMatch DOID:5325 Roberts syndrome semapv:UnspecifiedMatching MONDO:0100253 Roberts-SC phocomelia syndrome skos:exactMatch MEDGEN:95931 semapv:UnspecifiedMatching MONDO:0100253 Roberts-SC phocomelia syndrome skos:exactMatch NCIT:C4681 Roberts-SC Phocomelia Syndrome semapv:UnspecifiedMatching MONDO:0100253 Roberts-SC phocomelia syndrome skos:exactMatch OMIM:268300 roberts-sc phocomelia syndrome semapv:UnspecifiedMatching MONDO:0100253 Roberts-SC phocomelia syndrome skos:exactMatch Orphanet:3103 Roberts syndrome semapv:UnspecifiedMatching MONDO:0100253 Roberts-SC phocomelia syndrome skos:exactMatch SCTID:48718006 semapv:UnspecifiedMatching MONDO:0100253 Roberts-SC phocomelia syndrome skos:exactMatch UMLS:C0392475 semapv:UnspecifiedMatching MONDO:0100253 Roberts-SC phocomelia syndrome skos:exactMatch mesh:C535687 semapv:UnspecifiedMatching MONDO:0100255 adenosine kinase deficiency skos:exactMatch DOID:0111038 hypermethioninemia due to adenosine kinase deficiency semapv:UnspecifiedMatching MONDO:0100255 adenosine kinase deficiency skos:exactMatch MEDGEN:1632232 semapv:UnspecifiedMatching MONDO:0100255 adenosine kinase deficiency skos:exactMatch OMIM:614300 hypermethioninemia due to adenosine kinase deficiency semapv:UnspecifiedMatching MONDO:0100255 adenosine kinase deficiency skos:exactMatch Orphanet:289290 Hypermethioninemia encephalopathy due to adenosine kinase deficiency semapv:UnspecifiedMatching MONDO:0100255 adenosine kinase deficiency skos:exactMatch UMLS:C4706555 semapv:UnspecifiedMatching MONDO:0100255 adenosine kinase deficiency skos:exactMatch mesh:C567015 semapv:UnspecifiedMatching MONDO:0100259 peroxisome biogenesis disorder due to PEX1 defect skos:exactMatch OMIM:234580 heimler syndrome 1 semapv:UnspecifiedMatching MONDO:0100263 peroxisome biogenesis disorder due to PEX6 defect skos:exactMatch OMIM:616617 heimler syndrome 2 semapv:UnspecifiedMatching MONDO:0100280 Waldenstrom macroglobulinemia skos:exactMatch DOID:0060901 lymphoplasmacytic lymphoma semapv:UnspecifiedMatching MONDO:0100280 Waldenstrom macroglobulinemia skos:exactMatch EFO:0009441 semapv:UnspecifiedMatching MONDO:0100280 Waldenstrom macroglobulinemia skos:exactMatch ICD10CM:C88.0 Waldenström macroglobulinemia semapv:UnspecifiedMatching MONDO:0100280 Waldenstrom macroglobulinemia skos:exactMatch MEDGEN:6174 semapv:UnspecifiedMatching MONDO:0100280 Waldenstrom macroglobulinemia skos:exactMatch NCIT:C80307 Waldenstrom Macroglobulinemia semapv:UnspecifiedMatching MONDO:0100280 Waldenstrom macroglobulinemia skos:exactMatch OMIMPS:153600 Macroglobulinemia, Waldenstrom semapv:UnspecifiedMatching MONDO:0100280 Waldenstrom macroglobulinemia skos:exactMatch Orphanet:33226 Waldenström macroglobulinemia semapv:UnspecifiedMatching MONDO:0100280 Waldenstrom macroglobulinemia skos:exactMatch UMLS:C0024419 semapv:UnspecifiedMatching MONDO:0100280 Waldenstrom macroglobulinemia skos:exactMatch mesh:D008258 semapv:UnspecifiedMatching MONDO:0100281 macroglobulinemia, Waldenstrom, 1 skos:exactMatch MEDGEN:320546 semapv:UnspecifiedMatching MONDO:0100281 macroglobulinemia, Waldenstrom, 1 skos:exactMatch OMIM:153600 macroglobulinemia, waldenstrom, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0100281 macroglobulinemia, Waldenstrom, 1 skos:exactMatch UMLS:C1835192 semapv:UnspecifiedMatching MONDO:0100284 X-linked intellectual disability skos:exactMatch MEDGEN:211749 semapv:UnspecifiedMatching MONDO:0100284 X-linked intellectual disability skos:exactMatch UMLS:C1136249 semapv:UnspecifiedMatching MONDO:0100285 extrahepatic biliary atresia skos:exactMatch MEDGEN:1621383 semapv:UnspecifiedMatching MONDO:0100285 extrahepatic biliary atresia skos:exactMatch NCIT:C97069 Extrahepatic Biliary Atresia semapv:UnspecifiedMatching MONDO:0100285 extrahepatic biliary atresia skos:exactMatch OMIM:210500 biliary atresia, extrahepatic semapv:UnspecifiedMatching MONDO:0100285 extrahepatic biliary atresia skos:exactMatch UMLS:C4520983 semapv:UnspecifiedMatching MONDO:0100285 extrahepatic biliary atresia skos:exactMatch icd11.foundation:1813934523 Extrahepatic biliary atresia semapv:UnspecifiedMatching MONDO:0100286 respiratory syncytial virus bronchiolitis skos:exactMatch MEDGEN:547277 semapv:UnspecifiedMatching MONDO:0100286 respiratory syncytial virus bronchiolitis skos:exactMatch UMLS:C0276340 semapv:UnspecifiedMatching MONDO:0100288 enhanced S-cone syndrome skos:exactMatch DOID:0090059 enhanced S-cone syndrome semapv:UnspecifiedMatching MONDO:0100288 enhanced S-cone syndrome skos:exactMatch MEDGEN:341446 semapv:UnspecifiedMatching MONDO:0100288 enhanced S-cone syndrome skos:exactMatch OMIMPS:268100 Enhanced S-cone syndrome semapv:UnspecifiedMatching MONDO:0100288 enhanced S-cone syndrome skos:exactMatch UMLS:C1849394 semapv:UnspecifiedMatching MONDO:0100288 enhanced S-cone syndrome skos:exactMatch mesh:C564835 semapv:UnspecifiedMatching MONDO:0100289 Goldmann-Favre syndrome skos:exactMatch DOID:0061231 semapv:UnspecifiedMatching MONDO:0100289 Goldmann-Favre syndrome skos:exactMatch MEDGEN:87387 semapv:UnspecifiedMatching MONDO:0100289 Goldmann-Favre syndrome skos:exactMatch OMIM:268100 enhanced s-cone syndrome 1 semapv:UnspecifiedMatching MONDO:0100289 Goldmann-Favre syndrome skos:exactMatch Orphanet:53540 Goldmann-Favre syndrome semapv:UnspecifiedMatching MONDO:0100289 Goldmann-Favre syndrome skos:exactMatch SCTID:232065000 semapv:UnspecifiedMatching MONDO:0100289 Goldmann-Favre syndrome skos:exactMatch UMLS:C0339541 semapv:UnspecifiedMatching MONDO:0100289 Goldmann-Favre syndrome skos:exactMatch icd11.foundation:890235941 Goldmann-Favre syndrome semapv:UnspecifiedMatching MONDO:0100290 colon serrated polyposis skos:exactMatch MEDGEN:474430 semapv:UnspecifiedMatching MONDO:0100290 colon serrated polyposis skos:exactMatch NCIT:C96470 Colon Serrated Polyposis semapv:UnspecifiedMatching MONDO:0100290 colon serrated polyposis skos:exactMatch UMLS:C3272797 semapv:UnspecifiedMatching MONDO:0100291 early T cell progenitor acute lymphoblastic leukemia skos:exactMatch MEDGEN:1385175 semapv:UnspecifiedMatching MONDO:0100291 early T cell progenitor acute lymphoblastic leukemia skos:exactMatch NCIT:C130043 Early T Precursor Acute Lymphoblastic Leukemia semapv:UnspecifiedMatching MONDO:0100291 early T cell progenitor acute lymphoblastic leukemia skos:exactMatch UMLS:C4329780 semapv:UnspecifiedMatching MONDO:0100292 Carey-Fineman-Ziter syndrome 2 skos:exactMatch DOID:0061116 Carey-Fineman-Ziter syndrome 2 semapv:UnspecifiedMatching MONDO:0100292 Carey-Fineman-Ziter syndrome 2 skos:exactMatch MEDGEN:1800921 semapv:UnspecifiedMatching MONDO:0100292 Carey-Fineman-Ziter syndrome 2 skos:exactMatch OMIM:619941 carey-fineman-ziter syndrome 2 semapv:UnspecifiedMatching MONDO:0100292 Carey-Fineman-Ziter syndrome 2 skos:exactMatch UMLS:C5677012 semapv:UnspecifiedMatching MONDO:0100294 mitochondrial complex II deficiency, nuclear type 1 skos:exactMatch DOID:0060537 mitochondrial complex II deficiency semapv:UnspecifiedMatching MONDO:0100294 mitochondrial complex II deficiency, nuclear type 1 skos:exactMatch MEDGEN:1814582 semapv:UnspecifiedMatching MONDO:0100294 mitochondrial complex II deficiency, nuclear type 1 skos:exactMatch OMIM:252011 mitochondrial complex 2 deficiency, nuclear type 1 semapv:UnspecifiedMatching MONDO:0100294 mitochondrial complex II deficiency, nuclear type 1 skos:exactMatch Orphanet:3208 Isolated succinate-CoQ reductase deficiency semapv:UnspecifiedMatching MONDO:0100294 mitochondrial complex II deficiency, nuclear type 1 skos:exactMatch SCTID:124165006 semapv:UnspecifiedMatching MONDO:0100294 mitochondrial complex II deficiency, nuclear type 1 skos:exactMatch UMLS:C5700310 semapv:UnspecifiedMatching MONDO:0100294 mitochondrial complex II deficiency, nuclear type 1 skos:exactMatch mesh:C565375 semapv:UnspecifiedMatching MONDO:0100295 Alzheimer disease, susceptibility to, mitochondrial skos:exactMatch MEDGEN:325148 semapv:UnspecifiedMatching MONDO:0100295 Alzheimer disease, susceptibility to, mitochondrial skos:exactMatch OMIM:502500 alzheimer disease, susceptibility to, mitochondrial semapv:UnspecifiedMatching MONDO:0100295 Alzheimer disease, susceptibility to, mitochondrial skos:exactMatch UMLS:C1838990 semapv:UnspecifiedMatching MONDO:0100296 Olmsted syndrome 1 skos:exactMatch DOID:0112013 autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques semapv:UnspecifiedMatching MONDO:0100296 Olmsted syndrome 1 skos:exactMatch MEDGEN:1778121 semapv:UnspecifiedMatching MONDO:0100296 Olmsted syndrome 1 skos:exactMatch OMIM:614594 olmsted syndrome 1 semapv:UnspecifiedMatching MONDO:0100296 Olmsted syndrome 1 skos:exactMatch UMLS:C5542829 semapv:UnspecifiedMatching MONDO:0100297 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 skos:exactMatch DOID:0060989 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 semapv:UnspecifiedMatching MONDO:0100297 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 skos:exactMatch MEDGEN:1778119 semapv:UnspecifiedMatching MONDO:0100297 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 skos:exactMatch OMIM:617877 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 semapv:UnspecifiedMatching MONDO:0100297 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 skos:exactMatch UMLS:C5542952 semapv:UnspecifiedMatching MONDO:0100301 hemangioma, capillary infantile, susceptibility to skos:exactMatch MEDGEN:864857 semapv:UnspecifiedMatching MONDO:0100301 hemangioma, capillary infantile, susceptibility to skos:exactMatch UMLS:C4016420 semapv:UnspecifiedMatching MONDO:0100302 LADD syndrome 1 skos:exactMatch MEDGEN:1824096 semapv:UnspecifiedMatching MONDO:0100302 LADD syndrome 1 skos:exactMatch OMIM:149730 lacrimoauriculodentodigital syndrome 1 semapv:UnspecifiedMatching MONDO:0100302 LADD syndrome 1 skos:exactMatch UMLS:C5774323 semapv:UnspecifiedMatching MONDO:0100303 ichthyosis, annular epidermolytic 1 skos:exactMatch OMIM:607602 ichthyosis, annular epidermolytic, 1 semapv:UnspecifiedMatching MONDO:0100309 hereditary ataxia skos:exactMatch DOID:0050951 hereditary ataxia semapv:UnspecifiedMatching MONDO:0100309 hereditary ataxia skos:exactMatch EFO:0009671 semapv:UnspecifiedMatching MONDO:0100309 hereditary ataxia skos:exactMatch ICD10CM:G11 Hereditary ataxia semapv:UnspecifiedMatching MONDO:0100309 hereditary ataxia skos:exactMatch ICD10WHO:G11 Hereditary ataxia semapv:UnspecifiedMatching MONDO:0100309 hereditary ataxia skos:exactMatch MEDGEN:2478 semapv:UnspecifiedMatching MONDO:0100309 hereditary ataxia skos:exactMatch Orphanet:183518 Hereditary ataxia semapv:UnspecifiedMatching MONDO:0100309 hereditary ataxia skos:exactMatch SCTID:763597000 semapv:UnspecifiedMatching MONDO:0100309 hereditary ataxia skos:exactMatch UMLS:C0004138 semapv:UnspecifiedMatching MONDO:0100309 hereditary ataxia skos:exactMatch icd11.foundation:442347652 Hereditary ataxia semapv:UnspecifiedMatching MONDO:0100309 hereditary ataxia skos:exactMatch mesh:C531684 semapv:UnspecifiedMatching MONDO:0100310 hereditary cerebellar ataxia skos:exactMatch MEDGEN:78726 semapv:UnspecifiedMatching MONDO:0100310 hereditary cerebellar ataxia skos:exactMatch NCIT:C140268 Hereditary Cerebellar Ataxia semapv:UnspecifiedMatching MONDO:0100310 hereditary cerebellar ataxia skos:exactMatch UMLS:C0270749 semapv:UnspecifiedMatching MONDO:0100311 sensory ataxia skos:exactMatch MEDGEN:66020 semapv:UnspecifiedMatching MONDO:0100311 sensory ataxia skos:exactMatch UMLS:C0240991 semapv:UnspecifiedMatching MONDO:0100312 vestibular ataxia skos:exactMatch MEDGEN:863489 semapv:UnspecifiedMatching MONDO:0100312 vestibular ataxia skos:exactMatch UMLS:C4015052 semapv:UnspecifiedMatching MONDO:0100313 focal segmental glomerulosclerosis skos:exactMatch DOID:1312 focal segmental glomerulosclerosis semapv:UnspecifiedMatching MONDO:0100313 focal segmental glomerulosclerosis skos:exactMatch EFO:0004236 semapv:UnspecifiedMatching MONDO:0100313 focal segmental glomerulosclerosis skos:exactMatch MEDGEN:4904 semapv:UnspecifiedMatching MONDO:0100313 focal segmental glomerulosclerosis skos:exactMatch NCIT:C37308 Focal Segmental Glomerulosclerosis semapv:UnspecifiedMatching MONDO:0100313 focal segmental glomerulosclerosis skos:exactMatch SCTID:236403004 semapv:UnspecifiedMatching MONDO:0100313 focal segmental glomerulosclerosis skos:exactMatch UMLS:C0017668 semapv:UnspecifiedMatching MONDO:0100313 focal segmental glomerulosclerosis skos:exactMatch mesh:D005923 semapv:UnspecifiedMatching MONDO:0100316 long QT syndrome 1 skos:exactMatch DOID:0110644 long QT syndrome 1 semapv:UnspecifiedMatching MONDO:0100316 long QT syndrome 1 skos:exactMatch MEDGEN:1641146 semapv:UnspecifiedMatching MONDO:0100316 long QT syndrome 1 skos:exactMatch NCIT:C85049 Long QT Syndrome 1 semapv:UnspecifiedMatching MONDO:0100316 long QT syndrome 1 skos:exactMatch OMIM:192500 long qt syndrome 1 semapv:UnspecifiedMatching MONDO:0100316 long QT syndrome 1 skos:exactMatch SCTID:20852007 semapv:UnspecifiedMatching MONDO:0100316 long QT syndrome 1 skos:exactMatch UMLS:C4551647 semapv:UnspecifiedMatching MONDO:0100324 primary focal segmental glomerulosclerosis skos:exactMatch MEDGEN:313617 semapv:UnspecifiedMatching MONDO:0100324 primary focal segmental glomerulosclerosis skos:exactMatch UMLS:C1709661 semapv:UnspecifiedMatching MONDO:0100325 odontochondrodysplasia 1 skos:exactMatch MEDGEN:1784281 semapv:UnspecifiedMatching MONDO:0100325 odontochondrodysplasia 1 skos:exactMatch OMIM:184260 odontochondrodysplasia 1 semapv:UnspecifiedMatching MONDO:0100325 odontochondrodysplasia 1 skos:exactMatch Orphanet:166272 Odontochondrodysplasia semapv:UnspecifiedMatching MONDO:0100325 odontochondrodysplasia 1 skos:exactMatch SCTID:717823001 semapv:UnspecifiedMatching MONDO:0100325 odontochondrodysplasia 1 skos:exactMatch UMLS:C5542277 semapv:UnspecifiedMatching MONDO:0100326 Glanzmann thrombasthenia skos:exactMatch MEDGEN:52736 semapv:UnspecifiedMatching MONDO:0100326 Glanzmann thrombasthenia skos:exactMatch OMIMPS:273800 Glanzmann thrombasthenia semapv:UnspecifiedMatching MONDO:0100326 Glanzmann thrombasthenia skos:exactMatch Orphanet:849 Glanzmann thrombasthenia semapv:UnspecifiedMatching MONDO:0100326 Glanzmann thrombasthenia skos:exactMatch UMLS:C0040015 semapv:UnspecifiedMatching MONDO:0100326 Glanzmann thrombasthenia skos:exactMatch icd11.foundation:1927726560 Glanzmann thrombasthenia semapv:UnspecifiedMatching MONDO:0100327 hypercholanemia, familial skos:exactMatch MEDGEN:334689 semapv:UnspecifiedMatching MONDO:0100327 hypercholanemia, familial skos:exactMatch OMIMPS:607748 Hypercholanemia, familial semapv:UnspecifiedMatching MONDO:0100327 hypercholanemia, familial skos:exactMatch UMLS:C1843139 semapv:UnspecifiedMatching MONDO:0100328 microcephaly, epilepsy, and diabetes syndrome skos:exactMatch MEDGEN:481870 semapv:UnspecifiedMatching MONDO:0100328 microcephaly, epilepsy, and diabetes syndrome skos:exactMatch OMIMPS:614231 Microcephaly, epilepsy, and diabetes syndrome semapv:UnspecifiedMatching MONDO:0100328 microcephaly, epilepsy, and diabetes syndrome skos:exactMatch UMLS:C3280240 semapv:UnspecifiedMatching MONDO:0100338 urinary tract infection skos:exactMatch DOID:0080784 urinary tract infection semapv:UnspecifiedMatching MONDO:0100338 urinary tract infection skos:exactMatch EFO:0003103 semapv:UnspecifiedMatching MONDO:0100338 urinary tract infection skos:exactMatch MEDGEN:52943 semapv:UnspecifiedMatching MONDO:0100338 urinary tract infection skos:exactMatch UMLS:C0042029 semapv:UnspecifiedMatching MONDO:0100338 urinary tract infection skos:exactMatch mesh:D014552 semapv:UnspecifiedMatching MONDO:0100339 Friedreich ataxia skos:exactMatch DOID:12705 Friedreich ataxia semapv:UnspecifiedMatching MONDO:0100339 Friedreich ataxia skos:exactMatch ICD10CM:G11.11 Friedreich ataxia semapv:UnspecifiedMatching MONDO:0100339 Friedreich ataxia skos:exactMatch MEDGEN:5276 semapv:UnspecifiedMatching MONDO:0100339 Friedreich ataxia skos:exactMatch NCIT:C84718 Friedreich Ataxia semapv:UnspecifiedMatching MONDO:0100339 Friedreich ataxia skos:exactMatch Orphanet:95 Friedreich ataxia semapv:UnspecifiedMatching MONDO:0100339 Friedreich ataxia skos:exactMatch SCTID:10394003 semapv:UnspecifiedMatching MONDO:0100339 Friedreich ataxia skos:exactMatch UMLS:C0016719 semapv:UnspecifiedMatching MONDO:0100339 Friedreich ataxia skos:exactMatch icd11.foundation:980686666 Friedreich ataxia semapv:UnspecifiedMatching MONDO:0100339 Friedreich ataxia skos:exactMatch mesh:D005621 semapv:UnspecifiedMatching MONDO:0100340 Friedreich ataxia 1 skos:exactMatch DOID:0111218 Friedreich ataxia 1 semapv:UnspecifiedMatching MONDO:0100340 Friedreich ataxia 1 skos:exactMatch MEDGEN:383962 semapv:UnspecifiedMatching MONDO:0100340 Friedreich ataxia 1 skos:exactMatch OMIM:229300 friedreich ataxia semapv:UnspecifiedMatching MONDO:0100340 Friedreich ataxia 1 skos:exactMatch UMLS:C1856689 semapv:UnspecifiedMatching MONDO:0100340 Friedreich ataxia 1 skos:exactMatch mesh:C565561 semapv:UnspecifiedMatching MONDO:0100342 malignant glioma skos:exactMatch DOID:3070 high grade glioma semapv:UnspecifiedMatching MONDO:0100342 malignant glioma skos:exactMatch MEDGEN:107826 semapv:UnspecifiedMatching MONDO:0100342 malignant glioma skos:exactMatch NCIT:C4822 Malignant Glioma semapv:UnspecifiedMatching MONDO:0100342 malignant glioma skos:exactMatch UMLS:C0555198 semapv:UnspecifiedMatching MONDO:0100343 obsolete antenatal Bartter syndrome skos:exactMatch Orphanet:93604 OBSOLETE: Antenatal Bartter syndrome semapv:UnspecifiedMatching MONDO:0100344 Bartter disease type 1 skos:exactMatch DOID:0110142 Bartter disease type 1 semapv:UnspecifiedMatching MONDO:0100344 Bartter disease type 1 skos:exactMatch MEDGEN:355727 semapv:UnspecifiedMatching MONDO:0100344 Bartter disease type 1 skos:exactMatch OMIM:601678 bartter syndrome, type 1, antenatal semapv:UnspecifiedMatching MONDO:0100344 Bartter disease type 1 skos:exactMatch Orphanet:620217 Bartter syndrome type 1 semapv:UnspecifiedMatching MONDO:0100344 Bartter disease type 1 skos:exactMatch SCTID:700107006 semapv:UnspecifiedMatching MONDO:0100344 Bartter disease type 1 skos:exactMatch UMLS:C1866495 semapv:UnspecifiedMatching MONDO:0100344 Bartter disease type 1 skos:exactMatch mesh:C537652 semapv:UnspecifiedMatching MONDO:0100345 lactose intolerance skos:exactMatch DOID:10604 lactose intolerance semapv:UnspecifiedMatching MONDO:0100345 lactose intolerance skos:exactMatch EFO:1000062 semapv:UnspecifiedMatching MONDO:0100345 lactose intolerance skos:exactMatch ICD10CM:E73 Lactose intolerance semapv:UnspecifiedMatching MONDO:0100345 lactose intolerance skos:exactMatch ICD10WHO:E73 Lactose intolerance semapv:UnspecifiedMatching MONDO:0100345 lactose intolerance skos:exactMatch MEDGEN:6001 semapv:UnspecifiedMatching MONDO:0100345 lactose intolerance skos:exactMatch NCIT:C3154 Lactose Intolerance semapv:UnspecifiedMatching MONDO:0100345 lactose intolerance skos:exactMatch SCTID:267425008 semapv:UnspecifiedMatching MONDO:0100345 lactose intolerance skos:exactMatch UMLS:C0022951 semapv:UnspecifiedMatching MONDO:0100345 lactose intolerance skos:exactMatch icd11.foundation:1026224967 Lactose intolerance semapv:UnspecifiedMatching MONDO:0100345 lactose intolerance skos:exactMatch mesh:D007787 semapv:UnspecifiedMatching MONDO:0100347 carcinoid syndrome skos:exactMatch EFO:1000852 semapv:UnspecifiedMatching MONDO:0100347 carcinoid syndrome skos:exactMatch ICD10CM:E34.0 Carcinoid syndrome semapv:UnspecifiedMatching MONDO:0100347 carcinoid syndrome skos:exactMatch MEDGEN:6191 semapv:UnspecifiedMatching MONDO:0100347 carcinoid syndrome skos:exactMatch NCIT:C3215 Carcinoid Syndrome semapv:UnspecifiedMatching MONDO:0100347 carcinoid syndrome skos:exactMatch Orphanet:100093 Carcinoid syndrome semapv:UnspecifiedMatching MONDO:0100347 carcinoid syndrome skos:exactMatch SCTID:35868009 semapv:UnspecifiedMatching MONDO:0100347 carcinoid syndrome skos:exactMatch UMLS:C0024586 semapv:UnspecifiedMatching MONDO:0100347 carcinoid syndrome skos:exactMatch icd11.foundation:111763187 Carcinoid syndrome semapv:UnspecifiedMatching MONDO:0100348 neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities skos:exactMatch MEDGEN:1731507 semapv:UnspecifiedMatching MONDO:0100348 neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities skos:exactMatch OMIM:619091 neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities semapv:UnspecifiedMatching MONDO:0100348 neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities skos:exactMatch UMLS:C5436783 semapv:UnspecifiedMatching MONDO:0100349 COACH syndrome skos:exactMatch DOID:0111589 COACH syndrome semapv:UnspecifiedMatching MONDO:0100349 COACH syndrome skos:exactMatch MEDGEN:387879 semapv:UnspecifiedMatching MONDO:0100349 COACH syndrome skos:exactMatch Orphanet:1454 Joubert syndrome with hepatic defect semapv:UnspecifiedMatching MONDO:0100349 COACH syndrome skos:exactMatch SCTID:721847002 semapv:UnspecifiedMatching MONDO:0100349 COACH syndrome skos:exactMatch UMLS:C1857662 semapv:UnspecifiedMatching MONDO:0100349 COACH syndrome skos:exactMatch mesh:C536430 semapv:UnspecifiedMatching MONDO:0100350 neuronopathy, distal hereditary motor, type 5 skos:exactMatch DOID:0111203 autosomal dominant distal hereditary motor neuronopathy 5 semapv:UnspecifiedMatching MONDO:0100350 neuronopathy, distal hereditary motor, type 5 skos:exactMatch MEDGEN:318838 semapv:UnspecifiedMatching MONDO:0100350 neuronopathy, distal hereditary motor, type 5 skos:exactMatch Orphanet:139536 Distal hereditary motor neuropathy type 5 semapv:UnspecifiedMatching MONDO:0100350 neuronopathy, distal hereditary motor, type 5 skos:exactMatch UMLS:C1833308 semapv:UnspecifiedMatching MONDO:0100350 neuronopathy, distal hereditary motor, type 5 skos:exactMatch mesh:C563443 semapv:UnspecifiedMatching MONDO:0100352 episodic kinesigenic dyskinesia 1 skos:exactMatch DOID:0090053 episodic kinesigenic dyskinesia 1 semapv:UnspecifiedMatching MONDO:0100352 episodic kinesigenic dyskinesia 1 skos:exactMatch MEDGEN:1636366 semapv:UnspecifiedMatching MONDO:0100352 episodic kinesigenic dyskinesia 1 skos:exactMatch OMIM:128200 episodic kinesigenic dyskinesia 1 semapv:UnspecifiedMatching MONDO:0100352 episodic kinesigenic dyskinesia 1 skos:exactMatch SCTID:609221008 semapv:UnspecifiedMatching MONDO:0100352 episodic kinesigenic dyskinesia 1 skos:exactMatch UMLS:C4552000 semapv:UnspecifiedMatching MONDO:0100352 episodic kinesigenic dyskinesia 1 skos:exactMatch mesh:C537180 semapv:UnspecifiedMatching MONDO:0100354 megacystis-microcolon-intestinal hypoperistalsis syndrome 1 skos:exactMatch DOID:0060610 megacystis-microcolon-intestinal hypoperistalsis syndrome semapv:UnspecifiedMatching MONDO:0100354 megacystis-microcolon-intestinal hypoperistalsis syndrome 1 skos:exactMatch MEDGEN:1778116 semapv:UnspecifiedMatching MONDO:0100354 megacystis-microcolon-intestinal hypoperistalsis syndrome 1 skos:exactMatch NCIT:C98982 MMIH Syndrome semapv:UnspecifiedMatching MONDO:0100354 megacystis-microcolon-intestinal hypoperistalsis syndrome 1 skos:exactMatch OMIM:249210 megacystis-microcolon-intestinal hypoperistalsis syndrome 1 semapv:UnspecifiedMatching MONDO:0100354 megacystis-microcolon-intestinal hypoperistalsis syndrome 1 skos:exactMatch Orphanet:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome semapv:UnspecifiedMatching MONDO:0100354 megacystis-microcolon-intestinal hypoperistalsis syndrome 1 skos:exactMatch SCTID:253781004 semapv:UnspecifiedMatching MONDO:0100354 megacystis-microcolon-intestinal hypoperistalsis syndrome 1 skos:exactMatch UMLS:C5542316 semapv:UnspecifiedMatching MONDO:0100354 megacystis-microcolon-intestinal hypoperistalsis syndrome 1 skos:exactMatch mesh:C536138 semapv:UnspecifiedMatching MONDO:0100366 occupational disorder skos:exactMatch MEDGEN:45175 semapv:UnspecifiedMatching MONDO:0100366 occupational disorder skos:exactMatch UMLS:C0028797 semapv:UnspecifiedMatching MONDO:0100367 port-wine nevi-mega cisterna magna-hydrocephalus syndrome skos:exactMatch MEDGEN:1682989 semapv:UnspecifiedMatching MONDO:0100367 port-wine nevi-mega cisterna magna-hydrocephalus syndrome skos:exactMatch Orphanet:2703 Port-wine nevi-mega cisterna magna-hydrocephalus syndrome semapv:UnspecifiedMatching MONDO:0100367 port-wine nevi-mega cisterna magna-hydrocephalus syndrome skos:exactMatch UMLS:C5191040 semapv:UnspecifiedMatching MONDO:0100370 acute hepatitis B virus infection skos:exactMatch ICD10CM:B16 Acute hepatitis B semapv:UnspecifiedMatching MONDO:0100370 acute hepatitis B virus infection skos:exactMatch NCIT:C157781 Acute Hepatitis B Infection semapv:UnspecifiedMatching MONDO:0100370 acute hepatitis B virus infection skos:exactMatch icd11.foundation:1337277167 Acute hepatitis B semapv:UnspecifiedMatching MONDO:0100371 acute hepatitis C virus infection skos:exactMatch ICD10CM:B17.1 Acute hepatitis C semapv:UnspecifiedMatching MONDO:0100371 acute hepatitis C virus infection skos:exactMatch NCIT:C157782 Acute Hepatitis C Infection semapv:UnspecifiedMatching MONDO:0100371 acute hepatitis C virus infection skos:exactMatch icd11.foundation:1517862018 Acute hepatitis C semapv:UnspecifiedMatching MONDO:0100373 acute myeloid leukemia, inv(16)(p13.1;q22) skos:exactMatch NCIT:C9018 Acute Myeloid Leukemia with inv(16)(p13.1q22); CBFB-MYH11 semapv:UnspecifiedMatching MONDO:0100374 acute myeloid leukemia, t(16;16)(p13.1;q22) skos:exactMatch NCIT:C9019 Acute Myeloid Leukemia with t(16;16)(p13.1;q22); CBFB-MYH11 semapv:UnspecifiedMatching MONDO:0100375 acute myeloid leukemia, t(15;17)(q24;q21) skos:exactMatch NCIT:C36055 Acute Promyelocytic Leukemia with a Variant RARA Rearrangement semapv:UnspecifiedMatching MONDO:0100377 acute myeloid leukemia, t(10;11)(p12;q23) skos:exactMatch NCIT:C132101 Acute Myeloid Leukemia with t(10;11)(p12.3;q23.3); MLLT10-KMT2A semapv:UnspecifiedMatching MONDO:0100381 acute myeloid leukemia, t(6;11)(q27;q23) skos:exactMatch NCIT:C132105 Acute Myeloid Leukemia with t(6;11)(q27;q23.3); MLLT4-KMT2A semapv:UnspecifiedMatching MONDO:0100382 acute myeloid leukemia, t(6;9)(p23;q34.1) skos:exactMatch DOID:0081080 acute myeloid leukemia with t(6;9) (p23;q34.1) semapv:UnspecifiedMatching MONDO:0100382 acute myeloid leukemia, t(6;9)(p23;q34.1) skos:exactMatch NCIT:C82423 Acute Myeloid Leukemia with t(6;9)(p22.3;q34.1); DEK-NUP214 semapv:UnspecifiedMatching MONDO:0100389 acute myeloid leukemia, Trisomy 8 skos:exactMatch NCIT:C162775 Acute Myeloid Leukemia with Trisomy 8 semapv:UnspecifiedMatching MONDO:0100395 acute myeloid leukemia, t(5;11)(q35;p15) skos:exactMatch NCIT:C131502 Childhood Acute Myeloid Leukemia with t(5;11)(q35;p15); NUP98-NSD1 semapv:UnspecifiedMatching MONDO:0100396 acute myeloid leukemia, t(7;12)(q36;p13) skos:exactMatch NCIT:C122690 Acute Myeloid Leukemia with t(7;12)(q36;p13); HLXB9-ETV6 semapv:UnspecifiedMatching MONDO:0100398 acute myeloid leukemia, inv(3)(q21.3;q26.2) skos:exactMatch NCIT:C122716 Acute Myeloid Leukemia with inv(3) (q21.3;q26.2); GATA2, MECOM semapv:UnspecifiedMatching MONDO:0100399 acute myeloid leukemia, t(3;3)(q21.3;q26.2) skos:exactMatch NCIT:C122717 Acute Myeloid Leukemia with t(3;3) (q21.3;q26.2); GATA2, MECOM semapv:UnspecifiedMatching MONDO:0100404 acute myeloid leukemia, MLL gene rearrangement skos:exactMatch DOID:0081094 acute myeloid leukemia with MLL rearrangement semapv:UnspecifiedMatching MONDO:0100404 acute myeloid leukemia, MLL gene rearrangement skos:exactMatch NCIT:C174129 Acute Myeloid Leukemia with KMT2A Rearrangement semapv:UnspecifiedMatching MONDO:0100407 acute myeloid leukemia, t(11;15)(p15;q35) skos:exactMatch NCIT:C131504 Childhood Acute Myeloid Leukemia with t(11;15)(p15;q35); NUP98-JARID1A semapv:UnspecifiedMatching MONDO:0100409 acute myeloid leukemia, t(3;5)(q25;q34) skos:exactMatch DOID:0081092 acute myeloid leukemia with myelodysplasia-related changes semapv:UnspecifiedMatching MONDO:0100409 acute myeloid leukemia, t(3;5)(q25;q34) skos:exactMatch NCIT:C7600 Acute Myeloid Leukemia, Myelodysplasia-Related semapv:UnspecifiedMatching MONDO:0100413 acute myeloid leukemia, biallelic CEBPA gene mutation skos:exactMatch DOID:0081090 acute myeloid leukemia with biallelic mutation of CEBPA semapv:UnspecifiedMatching MONDO:0100413 acute myeloid leukemia, biallelic CEBPA gene mutation skos:exactMatch NCIT:C129782 Acute Myeloid Leukemia with Biallelic CEBPA Mutation semapv:UnspecifiedMatching MONDO:0100414 acute myeloid leukemia, CEBPA gene mutation skos:exactMatch NCIT:C151898 Acute Myeloid Leukemia with Germline CEBPA Mutation semapv:UnspecifiedMatching MONDO:0100415 acute myeloid leukemia, FLT3 internal tandem duplication skos:exactMatch NCIT:C126748 Acute Myeloid Leukemia with FLT3/ITD Mutation semapv:UnspecifiedMatching MONDO:0100422 acute myeloid leukemia, RUNX1 gene mutation skos:exactMatch DOID:0081091 acute myeloid leukemia with mutated RUNX1 semapv:UnspecifiedMatching MONDO:0100422 acute myeloid leukemia, RUNX1 gene mutation skos:exactMatch NCIT:C129786 Acute Myeloid Leukemia with RUNX1 Mutation semapv:UnspecifiedMatching MONDO:0100426 iatrogenic skos:exactMatch icd11.foundation:4953745 semapv:UnspecifiedMatching MONDO:0100428 progressive bulbar palsy of childhood skos:exactMatch DOID:0080632 Fazio-Londe disease semapv:UnspecifiedMatching MONDO:0100428 progressive bulbar palsy of childhood skos:exactMatch MEDGEN:140728 semapv:UnspecifiedMatching MONDO:0100428 progressive bulbar palsy of childhood skos:exactMatch OMIM:211500 fazio-londe disease semapv:UnspecifiedMatching MONDO:0100428 progressive bulbar palsy of childhood skos:exactMatch SCTID:230246005 semapv:UnspecifiedMatching MONDO:0100428 progressive bulbar palsy of childhood skos:exactMatch UMLS:C0393540 semapv:UnspecifiedMatching MONDO:0100429 intrahepatic cholestasis of pregnancy skos:exactMatch DOID:0070227 intrahepatic cholestasis of pregnancy semapv:UnspecifiedMatching MONDO:0100429 intrahepatic cholestasis of pregnancy skos:exactMatch MEDGEN:82788 semapv:UnspecifiedMatching MONDO:0100429 intrahepatic cholestasis of pregnancy skos:exactMatch Orphanet:69665 Intrahepatic cholestasis of pregnancy semapv:UnspecifiedMatching MONDO:0100429 intrahepatic cholestasis of pregnancy skos:exactMatch UMLS:C0268318 semapv:UnspecifiedMatching MONDO:0100429 intrahepatic cholestasis of pregnancy skos:exactMatch icd11.foundation:1576251337 Intrahepatic cholestasis of pregnancy semapv:UnspecifiedMatching MONDO:0100429 intrahepatic cholestasis of pregnancy skos:exactMatch mesh:C535932 semapv:UnspecifiedMatching MONDO:0100431 migraine without aura skos:exactMatch DOID:12783 migraine without aura semapv:UnspecifiedMatching MONDO:0100431 migraine without aura skos:exactMatch ICD10CM:G43.0 Migraine without aura semapv:UnspecifiedMatching MONDO:0100431 migraine without aura skos:exactMatch MEDGEN:137899 semapv:UnspecifiedMatching MONDO:0100431 migraine without aura skos:exactMatch NCIT:C117004 Migraine Without Aura semapv:UnspecifiedMatching MONDO:0100431 migraine without aura skos:exactMatch SCTID:56097005 semapv:UnspecifiedMatching MONDO:0100431 migraine without aura skos:exactMatch UMLS:C0338480 semapv:UnspecifiedMatching MONDO:0100431 migraine without aura skos:exactMatch icd11.foundation:2048783472 Migraine without aura semapv:UnspecifiedMatching MONDO:0100431 migraine without aura skos:exactMatch mesh:D020326 semapv:UnspecifiedMatching MONDO:0100433 ACTB-associated syndromic thrombocytopenia skos:exactMatch MEDGEN:1851006 semapv:UnspecifiedMatching MONDO:0100433 ACTB-associated syndromic thrombocytopenia skos:exactMatch OMIM:620475 thrombocytopenia 8, with dysmorphic features and developmental delay semapv:UnspecifiedMatching MONDO:0100433 ACTB-associated syndromic thrombocytopenia skos:exactMatch Orphanet:674653 Actinomyopathy-associated syndromic thrombocytopenia semapv:UnspecifiedMatching MONDO:0100433 ACTB-associated syndromic thrombocytopenia skos:exactMatch UMLS:C5882677 semapv:UnspecifiedMatching MONDO:0100434 chronic mountain sickness skos:exactMatch SCTID:241975000 semapv:UnspecifiedMatching MONDO:0100435 Schwartz-Jampel syndrome type 1 skos:exactMatch DOID:0090005 Schwartz-Jampel syndrome 1 semapv:UnspecifiedMatching MONDO:0100435 Schwartz-Jampel syndrome type 1 skos:exactMatch MEDGEN:1647990 semapv:UnspecifiedMatching MONDO:0100435 Schwartz-Jampel syndrome type 1 skos:exactMatch OMIM:255800 schwartz-jampel syndrome, type 1 semapv:UnspecifiedMatching MONDO:0100435 Schwartz-Jampel syndrome type 1 skos:exactMatch UMLS:C4551479 semapv:UnspecifiedMatching MONDO:0100436 cataract 2, multiple types skos:exactMatch DOID:0110235 cataract 2 multiple types semapv:UnspecifiedMatching MONDO:0100436 cataract 2, multiple types skos:exactMatch MEDGEN:1648415 semapv:UnspecifiedMatching MONDO:0100436 cataract 2, multiple types skos:exactMatch OMIM:604307 cataract 2, multiple types semapv:UnspecifiedMatching MONDO:0100436 cataract 2, multiple types skos:exactMatch UMLS:C4721890 semapv:UnspecifiedMatching MONDO:0100439 glycogen storage disease IXa2 skos:exactMatch MEDGEN:411335 semapv:UnspecifiedMatching MONDO:0100439 glycogen storage disease IXa2 skos:exactMatch UMLS:C2748941 semapv:UnspecifiedMatching MONDO:0100440 Asperger syndrome, susceptibility to skos:exactMatch OMIMPS:608638 Asperger syndrome, susceptibility to semapv:UnspecifiedMatching MONDO:0100444 RLBP1-related retinopathy skos:exactMatch DOID:0061127 retinitis pigmentosa 99 semapv:UnspecifiedMatching MONDO:0100450 CAPN5-related vitreoretinopathy skos:exactMatch DOID:9719 neovascular inflammatory vitreoretinopathy semapv:UnspecifiedMatching MONDO:0100450 CAPN5-related vitreoretinopathy skos:exactMatch MEDGEN:1648542 semapv:UnspecifiedMatching MONDO:0100450 CAPN5-related vitreoretinopathy skos:exactMatch OMIM:193235 vitreoretinopathy, neovascular inflammatory semapv:UnspecifiedMatching MONDO:0100450 CAPN5-related vitreoretinopathy skos:exactMatch Orphanet:329211 Autosomal dominant neovascular inflammatory vitreoretinopathy semapv:UnspecifiedMatching MONDO:0100450 CAPN5-related vitreoretinopathy skos:exactMatch SCTID:770791000 semapv:UnspecifiedMatching MONDO:0100450 CAPN5-related vitreoretinopathy skos:exactMatch UMLS:C4721549 semapv:UnspecifiedMatching MONDO:0100452 RPE65-related dominant retinopathy skos:exactMatch DOID:0112144 retinitis pigmentosa 87 semapv:UnspecifiedMatching MONDO:0100457 achalasia, familial esophageal skos:exactMatch MEDGEN:395436 semapv:UnspecifiedMatching MONDO:0100457 achalasia, familial esophageal skos:exactMatch OMIM:200400 achalasia, familial esophageal semapv:UnspecifiedMatching MONDO:0100457 achalasia, familial esophageal skos:exactMatch UMLS:C1860213 semapv:UnspecifiedMatching MONDO:0100457 achalasia, familial esophageal skos:exactMatch mesh:C536011 semapv:UnspecifiedMatching MONDO:0100459 azoospermia skos:exactMatch DOID:14227 azoospermia semapv:UnspecifiedMatching MONDO:0100459 azoospermia skos:exactMatch ICD10CM:N46.0 Azoospermia semapv:UnspecifiedMatching MONDO:0100459 azoospermia skos:exactMatch MEDGEN:2150 semapv:UnspecifiedMatching MONDO:0100459 azoospermia skos:exactMatch SCTID:425558002 semapv:UnspecifiedMatching MONDO:0100459 azoospermia skos:exactMatch UMLS:C0004509 semapv:UnspecifiedMatching MONDO:0100459 azoospermia skos:exactMatch icd11.foundation:532688254 Azoospermia semapv:UnspecifiedMatching MONDO:0100459 azoospermia skos:exactMatch mesh:D053713 semapv:UnspecifiedMatching MONDO:0100460 tobacco addiction, susceptibility to skos:exactMatch MEDGEN:348778 semapv:UnspecifiedMatching MONDO:0100460 tobacco addiction, susceptibility to skos:exactMatch OMIM:188890 tobacco addiction, susceptibility to semapv:UnspecifiedMatching MONDO:0100460 tobacco addiction, susceptibility to skos:exactMatch UMLS:C1861063 semapv:UnspecifiedMatching MONDO:0100462 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans skos:exactMatch MEDGEN:777109 semapv:UnspecifiedMatching MONDO:0100462 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans skos:exactMatch OMIM:165800 short stature and advanced bone age with or without early-onset osteoarthritis and/or osteochondritis dissecans semapv:UnspecifiedMatching MONDO:0100462 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans skos:exactMatch Orphanet:251262 Familial osteochondritis dissecans semapv:UnspecifiedMatching MONDO:0100462 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans skos:exactMatch UMLS:C3665488 semapv:UnspecifiedMatching MONDO:0100464 acid sphingomyelinase deficiency skos:exactMatch MEDGEN:1800807 semapv:UnspecifiedMatching MONDO:0100464 acid sphingomyelinase deficiency skos:exactMatch UMLS:C5243927 semapv:UnspecifiedMatching MONDO:0100466 butterfly-shaped pigment dystrophy skos:exactMatch MEDGEN:1381271 semapv:UnspecifiedMatching MONDO:0100466 butterfly-shaped pigment dystrophy skos:exactMatch Orphanet:99001 Butterfly-shaped pigment dystrophy semapv:UnspecifiedMatching MONDO:0100466 butterfly-shaped pigment dystrophy skos:exactMatch SCTID:725590001 semapv:UnspecifiedMatching MONDO:0100466 butterfly-shaped pigment dystrophy skos:exactMatch UMLS:C4511237 semapv:UnspecifiedMatching MONDO:0100466 butterfly-shaped pigment dystrophy skos:exactMatch icd11.foundation:1639469808 Butterfly-shaped pigment dystrophy semapv:UnspecifiedMatching MONDO:0100467 preeclampsia/eclampsia 1 skos:exactMatch MEDGEN:1807479 semapv:UnspecifiedMatching MONDO:0100467 preeclampsia/eclampsia 1 skos:exactMatch OMIM:189800 preeclampsia/eclampsia 1 semapv:UnspecifiedMatching MONDO:0100467 preeclampsia/eclampsia 1 skos:exactMatch UMLS:C5574918 semapv:UnspecifiedMatching MONDO:0100468 Batten-Turner congenital myopathy skos:exactMatch DOID:0081335 Becker disease semapv:UnspecifiedMatching MONDO:0100468 Batten-Turner congenital myopathy skos:exactMatch MEDGEN:10158 semapv:UnspecifiedMatching MONDO:0100468 Batten-Turner congenital myopathy skos:exactMatch OMIM:255300 batten-turner congenital myopathy semapv:UnspecifiedMatching MONDO:0100468 Batten-Turner congenital myopathy skos:exactMatch UMLS:C0027127 semapv:UnspecifiedMatching MONDO:0100469 anosmia, isolated congenital, X-linked skos:exactMatch MEDGEN:1794322 semapv:UnspecifiedMatching MONDO:0100469 anosmia, isolated congenital, X-linked skos:exactMatch OMIM:301700 anosmia, isolated congenital, X-linked semapv:UnspecifiedMatching MONDO:0100469 anosmia, isolated congenital, X-linked skos:exactMatch UMLS:C5562112 semapv:UnspecifiedMatching MONDO:0100470 reactive airway disease skos:exactMatch MEDGEN:811342 semapv:UnspecifiedMatching MONDO:0100470 reactive airway disease skos:exactMatch NCIT:C113673 Reactive Airway Disease semapv:UnspecifiedMatching MONDO:0100470 reactive airway disease skos:exactMatch SCTID:991000119106 semapv:UnspecifiedMatching MONDO:0100470 reactive airway disease skos:exactMatch UMLS:C3714497 semapv:UnspecifiedMatching MONDO:0100471 vitamin D deficiency skos:exactMatch ICD10CM:E55 Vitamin D deficiency semapv:UnspecifiedMatching MONDO:0100471 vitamin D deficiency skos:exactMatch ICD10WHO:E55 Vitamin D deficiency semapv:UnspecifiedMatching MONDO:0100471 vitamin D deficiency skos:exactMatch MEDGEN:12114 semapv:UnspecifiedMatching MONDO:0100471 vitamin D deficiency skos:exactMatch NCIT:C114830 Vitamin D Deficiency semapv:UnspecifiedMatching MONDO:0100471 vitamin D deficiency skos:exactMatch SCTID:34713006 semapv:UnspecifiedMatching MONDO:0100471 vitamin D deficiency skos:exactMatch UMLS:C0042870 semapv:UnspecifiedMatching MONDO:0100471 vitamin D deficiency skos:exactMatch icd11.foundation:2080031371 Vitamin D deficiency semapv:UnspecifiedMatching MONDO:0100471 vitamin D deficiency skos:exactMatch mesh:D014808 semapv:UnspecifiedMatching MONDO:0100476 lipodystrophy, partial, acquired, susceptibility to skos:exactMatch MEDGEN:854363 semapv:UnspecifiedMatching MONDO:0100476 lipodystrophy, partial, acquired, susceptibility to skos:exactMatch OMIM:608709 lipodystrophy, partial, acquired, susceptibility to semapv:UnspecifiedMatching MONDO:0100476 lipodystrophy, partial, acquired, susceptibility to skos:exactMatch UMLS:C3887501 semapv:UnspecifiedMatching MONDO:0100478 brain malformations with or without urinary tract defects skos:exactMatch MEDGEN:1392440 semapv:UnspecifiedMatching MONDO:0100478 brain malformations with or without urinary tract defects skos:exactMatch OMIM:613735 brain malformations with or without urinary tract defects semapv:UnspecifiedMatching MONDO:0100478 brain malformations with or without urinary tract defects skos:exactMatch UMLS:C4478940 semapv:UnspecifiedMatching MONDO:0100479 rifampicin-resistant tuberculosis skos:exactMatch MEDGEN:735456 semapv:UnspecifiedMatching MONDO:0100479 rifampicin-resistant tuberculosis skos:exactMatch UMLS:C1532782 semapv:UnspecifiedMatching MONDO:0100480 autoimmune primary adrenal insufficiency skos:exactMatch MEDGEN:543526 semapv:UnspecifiedMatching MONDO:0100480 autoimmune primary adrenal insufficiency skos:exactMatch NCIT:C113814 Autoimmune Primary Adrenal Insufficiency semapv:UnspecifiedMatching MONDO:0100480 autoimmune primary adrenal insufficiency skos:exactMatch Orphanet:85138 Addison disease semapv:UnspecifiedMatching MONDO:0100480 autoimmune primary adrenal insufficiency skos:exactMatch UMLS:C0271737 semapv:UnspecifiedMatching MONDO:0100480 autoimmune primary adrenal insufficiency skos:exactMatch icd11.foundation:1920929898 Acquired adrenocortical insufficiency semapv:UnspecifiedMatching MONDO:0100481 active tuberculosis skos:exactMatch MEDGEN:508753 semapv:UnspecifiedMatching MONDO:0100481 active tuberculosis skos:exactMatch UMLS:C0151332 semapv:UnspecifiedMatching MONDO:0100482 extensively drug-resistant tuberculosis skos:exactMatch MEDGEN:321809 semapv:UnspecifiedMatching MONDO:0100482 extensively drug-resistant tuberculosis skos:exactMatch NCIT:C128417 Extensively Drug-Resistant Tuberculosis semapv:UnspecifiedMatching MONDO:0100482 extensively drug-resistant tuberculosis skos:exactMatch UMLS:C1827301 semapv:UnspecifiedMatching MONDO:0100482 extensively drug-resistant tuberculosis skos:exactMatch mesh:D054908 semapv:UnspecifiedMatching MONDO:0100486 adult acne skos:exactMatch MEDGEN:348960 semapv:UnspecifiedMatching MONDO:0100486 adult acne skos:exactMatch OMIM:604324 acne, adult semapv:UnspecifiedMatching MONDO:0100486 adult acne skos:exactMatch UMLS:C1858506 semapv:UnspecifiedMatching MONDO:0100486 adult acne skos:exactMatch mesh:C565791 semapv:UnspecifiedMatching MONDO:0100488 CDH1-related diffuse gastric and lobular breast cancer syndrome skos:exactMatch OMIM:137215 diffuse gastric and lobular breast cancer syndrome semapv:UnspecifiedMatching MONDO:0100489 Graves disease, susceptibility to, 1 skos:exactMatch MEDGEN:341307 semapv:UnspecifiedMatching MONDO:0100489 Graves disease, susceptibility to, 1 skos:exactMatch OMIM:275000 graves disease semapv:UnspecifiedMatching MONDO:0100489 Graves disease, susceptibility to, 1 skos:exactMatch UMLS:C1848795 semapv:UnspecifiedMatching MONDO:0100490 breasts and/or nipples, aplasia or hypoplasia of, 1 skos:exactMatch OMIM:113700 breasts and/or nipples, aplasia or hypoplasia of, 1 semapv:UnspecifiedMatching MONDO:0100491 generalized pustular psoriasis skos:exactMatch ICD10CM:L40.1 Generalized pustular psoriasis semapv:UnspecifiedMatching MONDO:0100491 generalized pustular psoriasis skos:exactMatch MEDGEN:473074 semapv:UnspecifiedMatching MONDO:0100491 generalized pustular psoriasis skos:exactMatch Orphanet:247353 Generalized pustular psoriasis semapv:UnspecifiedMatching MONDO:0100491 generalized pustular psoriasis skos:exactMatch SCTID:238612002 semapv:UnspecifiedMatching MONDO:0100491 generalized pustular psoriasis skos:exactMatch UMLS:C0343055 semapv:UnspecifiedMatching MONDO:0100492 Bonnevie-Ullrich syndrome skos:exactMatch MEDGEN:315907 semapv:UnspecifiedMatching MONDO:0100492 Bonnevie-Ullrich syndrome skos:exactMatch NCIT:C34434 Bonnevie-Ullrich Syndrome semapv:UnspecifiedMatching MONDO:0100492 Bonnevie-Ullrich syndrome skos:exactMatch UMLS:C1527168 semapv:UnspecifiedMatching MONDO:0100505 food dermatitis skos:exactMatch NCIT:C34534 Dermatitis due to Food taken Internally semapv:UnspecifiedMatching MONDO:0100508 salivary gland type cancer of the breast skos:exactMatch MEDGEN:903115 semapv:UnspecifiedMatching MONDO:0100508 salivary gland type cancer of the breast skos:exactMatch Orphanet:213557 Salivary gland type cancer of the breast semapv:UnspecifiedMatching MONDO:0100508 salivary gland type cancer of the breast skos:exactMatch SCTID:716593008 semapv:UnspecifiedMatching MONDO:0100508 salivary gland type cancer of the breast skos:exactMatch UMLS:C4274421 semapv:UnspecifiedMatching MONDO:0100508 salivary gland type cancer of the breast skos:exactMatch icd11.foundation:2145246967 Salivary gland type cancer of the breast semapv:UnspecifiedMatching MONDO:0100510 spondyloepimetaphyseal dysplasia skos:exactMatch DOID:0080027 spondyloepimetaphyseal dysplasia semapv:UnspecifiedMatching MONDO:0100510 spondyloepimetaphyseal dysplasia skos:exactMatch MEDGEN:609408 semapv:UnspecifiedMatching MONDO:0100510 spondyloepimetaphyseal dysplasia skos:exactMatch SCTID:254062008 semapv:UnspecifiedMatching MONDO:0100510 spondyloepimetaphyseal dysplasia skos:exactMatch UMLS:C0432211 semapv:UnspecifiedMatching MONDO:0100511 sudden cardiac arrest skos:exactMatch MEDGEN:354518 semapv:UnspecifiedMatching MONDO:0100511 sudden cardiac arrest skos:exactMatch UMLS:C1720824 semapv:UnspecifiedMatching MONDO:0100511 sudden cardiac arrest skos:exactMatch icd11.foundation:264292672 Sudden cardiac arrest semapv:UnspecifiedMatching MONDO:0100511 sudden cardiac arrest skos:exactMatch mesh:C1720824 semapv:UnspecifiedMatching MONDO:0100512 mitochondrial DNA depletion syndrome, hepatocerebral form skos:exactMatch MEDGEN:777993 semapv:UnspecifiedMatching MONDO:0100512 mitochondrial DNA depletion syndrome, hepatocerebral form skos:exactMatch Orphanet:254871 Mitochondrial DNA depletion syndrome, hepatocerebral form semapv:UnspecifiedMatching MONDO:0100512 mitochondrial DNA depletion syndrome, hepatocerebral form skos:exactMatch UMLS:C3711385 semapv:UnspecifiedMatching MONDO:0100512 mitochondrial DNA depletion syndrome, hepatocerebral form skos:exactMatch icd11.foundation:1285620325 Mitochondrial DNA depletion syndrome, hepatocerebral form semapv:UnspecifiedMatching MONDO:0100512 mitochondrial DNA depletion syndrome, hepatocerebral form skos:exactMatch mesh:C580039 semapv:UnspecifiedMatching MONDO:0100514 familial ovarian carcinoma skos:exactMatch DOID:6901 hereditary ovarian carcinoma semapv:UnspecifiedMatching MONDO:0100514 familial ovarian carcinoma skos:exactMatch MEDGEN:272713 semapv:UnspecifiedMatching MONDO:0100514 familial ovarian carcinoma skos:exactMatch NCIT:C36102 Hereditary Ovarian Carcinoma semapv:UnspecifiedMatching MONDO:0100514 familial ovarian carcinoma skos:exactMatch UMLS:C1333992 semapv:UnspecifiedMatching MONDO:0100518 hereditary attention deficit-hyperactivity disorder skos:exactMatch OMIM:143465 attention deficit-hyperactivity disorder semapv:UnspecifiedMatching MONDO:0100519 epilepsy, idiopathic generalized, susceptibility to, 17 skos:exactMatch MEDGEN:1794141 semapv:UnspecifiedMatching MONDO:0100519 epilepsy, idiopathic generalized, susceptibility to, 17 skos:exactMatch OMIM:602477 epilepsy, idiopathic generalized, susceptibility to, 17 semapv:UnspecifiedMatching MONDO:0100519 epilepsy, idiopathic generalized, susceptibility to, 17 skos:exactMatch UMLS:C5561931 semapv:UnspecifiedMatching MONDO:0100522 hypotrichosis 4 skos:exactMatch DOID:0110701 hypotrichosis 4 semapv:UnspecifiedMatching MONDO:0100522 hypotrichosis 4 skos:exactMatch MEDGEN:413053 semapv:UnspecifiedMatching MONDO:0100522 hypotrichosis 4 skos:exactMatch OMIM:146550 hypotrichosis 4 semapv:UnspecifiedMatching MONDO:0100522 hypotrichosis 4 skos:exactMatch UMLS:C2750815 semapv:UnspecifiedMatching MONDO:0100522 hypotrichosis 4 skos:exactMatch mesh:C567718 semapv:UnspecifiedMatching MONDO:0100526 breast-ovarian cancer, familial, susceptibility to skos:exactMatch OMIMPS:604370 Breast-ovarian cancer, familial, susceptibility to semapv:UnspecifiedMatching MONDO:0100527 dysplastic cortical hyperostosis, Kozlowski-Tsuruta type skos:exactMatch MEDGEN:1830504 semapv:UnspecifiedMatching MONDO:0100527 dysplastic cortical hyperostosis, Kozlowski-Tsuruta type skos:exactMatch Orphanet:2204 Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type semapv:UnspecifiedMatching MONDO:0100527 dysplastic cortical hyperostosis, Kozlowski-Tsuruta type skos:exactMatch UMLS:C5780027 semapv:UnspecifiedMatching MONDO:0100528 Hao-Fountain syndrome due to 16p13.2 microdeletion skos:exactMatch MEDGEN:1804697 semapv:UnspecifiedMatching MONDO:0100528 Hao-Fountain syndrome due to 16p13.2 microdeletion skos:exactMatch Orphanet:500055 Hao-Fountain syndrome due to 16p13.2 microdeletion semapv:UnspecifiedMatching MONDO:0100528 Hao-Fountain syndrome due to 16p13.2 microdeletion skos:exactMatch UMLS:C5680086 semapv:UnspecifiedMatching MONDO:0100531 Emery-Dreifuss muscular dystrophy 1, X-linked skos:exactMatch DOID:0070246 X-linked Emery-Dreifuss muscular dystrophy 1 semapv:UnspecifiedMatching MONDO:0100531 Emery-Dreifuss muscular dystrophy 1, X-linked skos:exactMatch MEDGEN:1720295 semapv:UnspecifiedMatching MONDO:0100531 Emery-Dreifuss muscular dystrophy 1, X-linked skos:exactMatch NCIT:C168730 Emery-Dreifuss Muscular Dystrophy 1, X-Linked semapv:UnspecifiedMatching MONDO:0100531 Emery-Dreifuss muscular dystrophy 1, X-linked skos:exactMatch OMIM:310300 emery-dreifuss muscular dystrophy 1, X-linked semapv:UnspecifiedMatching MONDO:0100531 Emery-Dreifuss muscular dystrophy 1, X-linked skos:exactMatch UMLS:C5243475 semapv:UnspecifiedMatching MONDO:0100532 blepharospasm, benign essential, susceptibility to skos:exactMatch MEDGEN:1640286 semapv:UnspecifiedMatching MONDO:0100532 blepharospasm, benign essential, susceptibility to skos:exactMatch OMIM:606798 blepharospasm, benign essential, susceptibility to semapv:UnspecifiedMatching MONDO:0100532 blepharospasm, benign essential, susceptibility to skos:exactMatch UMLS:C4692845 semapv:UnspecifiedMatching MONDO:0100533 hemorrhage, intracerebral, susceptibility to skos:exactMatch MEDGEN:482735 semapv:UnspecifiedMatching MONDO:0100533 hemorrhage, intracerebral, susceptibility to skos:exactMatch OMIM:614519 hemorrhage, intracerebral, susceptibility to semapv:UnspecifiedMatching MONDO:0100533 hemorrhage, intracerebral, susceptibility to skos:exactMatch UMLS:C3281105 semapv:UnspecifiedMatching MONDO:0100534 SMARCB1-deficient kidney medullary carcinoma skos:exactMatch MEDGEN:1817235 semapv:UnspecifiedMatching MONDO:0100534 SMARCB1-deficient kidney medullary carcinoma skos:exactMatch NCIT:C189247 SMARCB1-Deficient Kidney Medullary Carcinoma semapv:UnspecifiedMatching MONDO:0100534 SMARCB1-deficient kidney medullary carcinoma skos:exactMatch UMLS:C5708330 semapv:UnspecifiedMatching MONDO:0100535 hypodontia/oligodontia with orofacial cleft skos:exactMatch MEDGEN:369662 semapv:UnspecifiedMatching MONDO:0100535 hypodontia/oligodontia with orofacial cleft skos:exactMatch UMLS:C1970118 semapv:UnspecifiedMatching MONDO:0100536 tooth agenesis, selective, with orofacial cleft skos:exactMatch MEDGEN:409991 semapv:UnspecifiedMatching MONDO:0100536 tooth agenesis, selective, with orofacial cleft skos:exactMatch UMLS:C1970117 semapv:UnspecifiedMatching MONDO:0100537 plasminogen deficiency, type II skos:exactMatch MEDGEN:904685 semapv:UnspecifiedMatching MONDO:0100537 plasminogen deficiency, type II skos:exactMatch UMLS:C4225445 semapv:UnspecifiedMatching MONDO:0100542 clonal hematopoiesis skos:exactMatch MEDGEN:1694554 semapv:UnspecifiedMatching MONDO:0100542 clonal hematopoiesis skos:exactMatch NCIT:C162188 Clonal Hematopoiesis semapv:UnspecifiedMatching MONDO:0100542 clonal hematopoiesis skos:exactMatch UMLS:C5206406 semapv:UnspecifiedMatching MONDO:0100543 clonal hematopoiesis of indeterminate potential skos:exactMatch MEDGEN:1681237 semapv:UnspecifiedMatching MONDO:0100543 clonal hematopoiesis of indeterminate potential skos:exactMatch UMLS:C4761612 semapv:UnspecifiedMatching MONDO:0100544 age-related clonal hematopoiesis skos:exactMatch MEDGEN:1670618 semapv:UnspecifiedMatching MONDO:0100544 age-related clonal hematopoiesis skos:exactMatch UMLS:C4722404 semapv:UnspecifiedMatching MONDO:0100550 orbital myositis skos:exactMatch ICD10CM:H05.12 Orbital myositis semapv:UnspecifiedMatching MONDO:0100550 orbital myositis skos:exactMatch MEDGEN:389999 semapv:UnspecifiedMatching MONDO:0100550 orbital myositis skos:exactMatch NCIT:C117296 Orbital Myositis semapv:UnspecifiedMatching MONDO:0100550 orbital myositis skos:exactMatch SCTID:80698001 semapv:UnspecifiedMatching MONDO:0100550 orbital myositis skos:exactMatch UMLS:C2350476 semapv:UnspecifiedMatching MONDO:0100552 ATTRV30M amyloidosis skos:exactMatch MEDGEN:78669 semapv:UnspecifiedMatching MONDO:0100552 ATTRV30M amyloidosis skos:exactMatch Orphanet:85447 ATTRV30M amyloidosis semapv:UnspecifiedMatching MONDO:0100552 ATTRV30M amyloidosis skos:exactMatch UMLS:C0268384 semapv:UnspecifiedMatching MONDO:0100552 ATTRV30M amyloidosis skos:exactMatch icd11.foundation:1736273667 ATTRV30M amyloidosis semapv:UnspecifiedMatching MONDO:0100553 OPTN-related open angle glaucoma skos:exactMatch MEDGEN:87389 semapv:UnspecifiedMatching MONDO:0100553 OPTN-related open angle glaucoma skos:exactMatch OMIM:137760 glaucoma, primary open angle semapv:UnspecifiedMatching MONDO:0100553 OPTN-related open angle glaucoma skos:exactMatch UMLS:C0339573 semapv:UnspecifiedMatching MONDO:0100554 hereditary narcolepsy skos:exactMatch OMIMPS:161400 Narcolepsy semapv:UnspecifiedMatching MONDO:0100555 IgA nephropathy, susceptibility to skos:exactMatch OMIMPS:161950 IgA nephropathy semapv:UnspecifiedMatching MONDO:0100560 ligneous conjunctivitis skos:exactMatch ICD10CM:H10.51 Ligneous conjunctivitis semapv:UnspecifiedMatching MONDO:0100560 ligneous conjunctivitis skos:exactMatch MEDGEN:226895 semapv:UnspecifiedMatching MONDO:0100560 ligneous conjunctivitis skos:exactMatch UMLS:C1274789 semapv:UnspecifiedMatching MONDO:0100560 ligneous conjunctivitis skos:exactMatch icd11.foundation:1464324556 Ligneous conjunctivitis semapv:UnspecifiedMatching MONDO:0100566 myoclonic epilepsy in infancy skos:exactMatch MEDGEN:148242 semapv:UnspecifiedMatching MONDO:0100566 myoclonic epilepsy in infancy skos:exactMatch Orphanet:86909 Myoclonic epilepsy of infancy semapv:UnspecifiedMatching MONDO:0100566 myoclonic epilepsy in infancy skos:exactMatch UMLS:C0751120 semapv:UnspecifiedMatching MONDO:0100567 hereditary angioedema with normal C1Inh skos:exactMatch MEDGEN:743231 semapv:UnspecifiedMatching MONDO:0100567 hereditary angioedema with normal C1Inh skos:exactMatch Orphanet:528647 Hereditary angioedema with normal C1Inh semapv:UnspecifiedMatching MONDO:0100567 hereditary angioedema with normal C1Inh skos:exactMatch UMLS:C1960459 semapv:UnspecifiedMatching MONDO:0100573 combined generalized and focal epilepsy skos:exactMatch MEDGEN:1836943 semapv:UnspecifiedMatching MONDO:0100573 combined generalized and focal epilepsy skos:exactMatch UMLS:C5816884 semapv:UnspecifiedMatching MONDO:0100574 generalized epilepsy skos:exactMatch MEDGEN:4507 semapv:UnspecifiedMatching MONDO:0100574 generalized epilepsy skos:exactMatch NCIT:C3021 Generalized Epilepsy semapv:UnspecifiedMatching MONDO:0100574 generalized epilepsy skos:exactMatch UMLS:C0014548 semapv:UnspecifiedMatching MONDO:0100575 genetic generalized epilepsy skos:exactMatch MEDGEN:1836944 semapv:UnspecifiedMatching MONDO:0100575 genetic generalized epilepsy skos:exactMatch UMLS:C5816885 semapv:UnspecifiedMatching MONDO:0100577 myoclonic epilepsy skos:exactMatch MEDGEN:4988 semapv:UnspecifiedMatching MONDO:0100577 myoclonic epilepsy skos:exactMatch UMLS:C0014550 semapv:UnspecifiedMatching MONDO:0100590 hemolytic uremic syndrome, atypical, susceptibility to, 7 skos:exactMatch MEDGEN:814950 semapv:UnspecifiedMatching MONDO:0100590 hemolytic uremic syndrome, atypical, susceptibility to, 7 skos:exactMatch UMLS:C3808620 semapv:UnspecifiedMatching MONDO:0100595 furunculosis skos:exactMatch MEDGEN:42118 semapv:UnspecifiedMatching MONDO:0100595 furunculosis skos:exactMatch UMLS:C0016867 semapv:UnspecifiedMatching MONDO:0100600 hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome skos:exactMatch MEDGEN:1639554 semapv:UnspecifiedMatching MONDO:0100600 hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome skos:exactMatch Orphanet:137639 Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome semapv:UnspecifiedMatching MONDO:0100600 hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome skos:exactMatch UMLS:C4706676 semapv:UnspecifiedMatching MONDO:0100605 POLR-related leukodystrophy skos:exactMatch MEDGEN:1803536 semapv:UnspecifiedMatching MONDO:0100605 POLR-related leukodystrophy skos:exactMatch Orphanet:289494 4H leukodystrophy semapv:UnspecifiedMatching MONDO:0100605 POLR-related leukodystrophy skos:exactMatch UMLS:C5679947 semapv:UnspecifiedMatching MONDO:0100607 ciliary dyskinesia, primary, 54 skos:exactMatch MEDGEN:1876504 semapv:UnspecifiedMatching MONDO:0100607 ciliary dyskinesia, primary, 54 skos:exactMatch OMIM:621125 ciliary dyskinesia, primary, 54 semapv:UnspecifiedMatching MONDO:0100607 ciliary dyskinesia, primary, 54 skos:exactMatch UMLS:C6012704 semapv:UnspecifiedMatching MONDO:0100610 autism spectrum disorder 1 skos:exactMatch DOID:0050432 Asperger syndrome semapv:UnspecifiedMatching MONDO:0100610 autism spectrum disorder 1 skos:exactMatch NCIT:C97159 Asperger Syndrome semapv:UnspecifiedMatching MONDO:0100610 autism spectrum disorder 1 skos:exactMatch SCTID:23560001 semapv:UnspecifiedMatching MONDO:0100610 autism spectrum disorder 1 skos:exactMatch icd11.foundation:366940030 Asperger syndrome semapv:UnspecifiedMatching MONDO:0100610 autism spectrum disorder 1 skos:exactMatch mesh:D020817 semapv:UnspecifiedMatching MONDO:0100619 variable age epilepsy syndrome skos:exactMatch Orphanet:699645 Variable age-onset epilepsy syndrome semapv:UnspecifiedMatching MONDO:0100620 developmental and epileptic encephalopathy skos:exactMatch MEDGEN:1830477 semapv:UnspecifiedMatching MONDO:0100620 developmental and epileptic encephalopathy skos:exactMatch UMLS:C5779964 semapv:UnspecifiedMatching MONDO:0100633 toxic polyneuropathy skos:exactMatch ICD10CM:G62.2 Polyneuropathy due to other toxic agents semapv:UnspecifiedMatching MONDO:0100633 toxic polyneuropathy skos:exactMatch NCIT:C27063 Toxic Polyneuropathy semapv:UnspecifiedMatching MONDO:0100633 toxic polyneuropathy skos:exactMatch SCTID:45600000 semapv:UnspecifiedMatching MONDO:0100634 traumatic neuropathy skos:broadMatch SCTID:57182000 semapv:UnspecifiedMatching MONDO:0100635 radiation-induced neuropathy skos:broadMatch ICD10CM:G62.8 Other specified polyneuropathies semapv:UnspecifiedMatching MONDO:0100635 radiation-induced neuropathy skos:exactMatch SCTID:445339002 semapv:UnspecifiedMatching MONDO:0100636 corticosteroid myopathy skos:exactMatch SCTID:26715006 semapv:UnspecifiedMatching MONDO:0100637 drug-induced myopathy skos:exactMatch ICD10CM:G72.0 Drug-induced myopathy semapv:UnspecifiedMatching MONDO:0100637 drug-induced myopathy skos:exactMatch SCTID:240101000 semapv:UnspecifiedMatching MONDO:0100638 endocrine myopathy skos:broadMatch ICD10CM:E34.9 Endocrine disorder, unspecified semapv:UnspecifiedMatching MONDO:0100638 endocrine myopathy skos:exactMatch SCTID:57958006 semapv:UnspecifiedMatching MONDO:0100639 vasculitic neuropathy skos:broadMatch ICD10CM:G62.8 Other specified polyneuropathies semapv:UnspecifiedMatching MONDO:0100639 vasculitic neuropathy skos:exactMatch SCTID:425659003 semapv:UnspecifiedMatching MONDO:0100640 chronic idiopathic neuropathy skos:exactMatch SCTID:230655004 semapv:UnspecifiedMatching MONDO:0100641 chemotherapy-induced neuropathy skos:broadMatch ICD10CM:G62.0 Drug-induced polyneuropathy semapv:UnspecifiedMatching MONDO:0100641 chemotherapy-induced neuropathy skos:exactMatch SCTID:1411000146100 semapv:UnspecifiedMatching MONDO:0100642 infectious neuropathy skos:broadMatch ICD10CM:G62.9 Polyneuropathy, unspecified semapv:UnspecifiedMatching MONDO:0100642 infectious neuropathy skos:exactMatch SCTID:230595006 semapv:UnspecifiedMatching MONDO:0100643 vitamin deficiency related neuropathy skos:broadMatch ICD10CM:E56.9 Vitamin deficiency, unspecified semapv:UnspecifiedMatching MONDO:0100643 vitamin deficiency related neuropathy skos:exactMatch SCTID:54509008 semapv:UnspecifiedMatching MONDO:0100644 paraproteinemia-associated neuropathy skos:broadMatch ICD10CM:G62.9 Polyneuropathy, unspecified semapv:UnspecifiedMatching MONDO:0100645 neuropathy in cryoglobulinemia skos:broadMatch ICD10CM:G62.9 Polyneuropathy, unspecified semapv:UnspecifiedMatching MONDO:0100645 neuropathy in cryoglobulinemia skos:exactMatch SCTID:230589005 semapv:UnspecifiedMatching MONDO:0100646 neuropathy in endocrine disorder skos:broadMatch ICD10CM:E34.9 Endocrine disorder, unspecified semapv:UnspecifiedMatching MONDO:0100646 neuropathy in endocrine disorder skos:exactMatch SCTID:230571009 semapv:UnspecifiedMatching MONDO:0100647 sarcoid neuropathy skos:broadMatch ICD10CM:G62.9 Polyneuropathy, unspecified semapv:UnspecifiedMatching MONDO:0100647 sarcoid neuropathy skos:exactMatch SCTID:193195000 semapv:UnspecifiedMatching MONDO:0200000 uterine ligament adenosarcoma skos:exactMatch NCIT:C102570 Broad Ligament Adenosarcoma semapv:UnspecifiedMatching MONDO:0200001 obsolete chromate resistance skos:exactMatch OMIM:118840 chromate resistance semapv:UnspecifiedMatching MONDO:0400000 small intestinal bacterial overgrowth skos:exactMatch MEDGEN:1708316 semapv:UnspecifiedMatching MONDO:0400000 small intestinal bacterial overgrowth skos:exactMatch UMLS:C3160854 semapv:UnspecifiedMatching MONDO:0400002 calcium-alkali syndrome skos:exactMatch MEDGEN:6403 semapv:UnspecifiedMatching MONDO:0400002 calcium-alkali syndrome skos:exactMatch UMLS:C0026141 semapv:UnspecifiedMatching MONDO:0400003 skeletal fluorosis skos:exactMatch ICD10CM:M85.1 Skeletal fluorosis semapv:UnspecifiedMatching MONDO:0400003 skeletal fluorosis skos:exactMatch icd11.foundation:1269698463 Skeletal fluorosis semapv:UnspecifiedMatching MONDO:0400004 phrynoderma skos:exactMatch MEDGEN:83101 semapv:UnspecifiedMatching MONDO:0400004 phrynoderma skos:exactMatch UMLS:C0334013 semapv:UnspecifiedMatching MONDO:0400004 phrynoderma skos:exactMatch icd11.foundation:1716182078 Phrynoderma semapv:UnspecifiedMatching MONDO:0400005 refeeding syndrome skos:exactMatch MEDGEN:167819 semapv:UnspecifiedMatching MONDO:0400005 refeeding syndrome skos:exactMatch UMLS:C0860549 semapv:UnspecifiedMatching MONDO:0400005 refeeding syndrome skos:exactMatch mesh:D055677 semapv:UnspecifiedMatching MONDO:0400006 botryomycosis skos:exactMatch ICD10CM:L08.81 Pyoderma vegetans semapv:UnspecifiedMatching MONDO:0400006 botryomycosis skos:exactMatch MEDGEN:754315 semapv:UnspecifiedMatching MONDO:0400006 botryomycosis skos:exactMatch UMLS:C2937266 semapv:UnspecifiedMatching MONDO:0500000 episodic angioedema with eosinophilia skos:exactMatch MEDGEN:725561 semapv:UnspecifiedMatching MONDO:0500000 episodic angioedema with eosinophilia skos:exactMatch UMLS:C1304198 semapv:UnspecifiedMatching MONDO:0500000 episodic angioedema with eosinophilia skos:exactMatch icd11.foundation:1511563398 Episodic angioedema with eosinophilia semapv:UnspecifiedMatching MONDO:0600002 hemorrhagic fever skos:exactMatch NCIT:C36169 Hemorrhagic Fever semapv:UnspecifiedMatching MONDO:0600005 venom allergy skos:exactMatch MEDGEN:1387536 semapv:UnspecifiedMatching MONDO:0600005 venom allergy skos:exactMatch UMLS:C4510560 semapv:UnspecifiedMatching MONDO:0600008 cytokine release syndrome skos:exactMatch ICD10CM:D89.83 Cytokine release syndrome semapv:UnspecifiedMatching MONDO:0600008 cytokine release syndrome skos:exactMatch MEDGEN:215297 semapv:UnspecifiedMatching MONDO:0600008 cytokine release syndrome skos:exactMatch NCIT:C78251 Cytokine Release Syndrome semapv:UnspecifiedMatching MONDO:0600008 cytokine release syndrome skos:exactMatch UMLS:C0948245 semapv:UnspecifiedMatching MONDO:0600008 cytokine release syndrome skos:exactMatch mesh:D000080424 semapv:UnspecifiedMatching MONDO:0600016 acinar dysplasia skos:exactMatch MEDGEN:835348 semapv:UnspecifiedMatching MONDO:0600016 acinar dysplasia skos:exactMatch UMLS:C3872820 semapv:UnspecifiedMatching MONDO:0600016 acinar dysplasia skos:exactMatch icd11.foundation:1890124170 Acinar dysplasia semapv:UnspecifiedMatching MONDO:0600023 idiopathic inflammatory myopathy skos:exactMatch MEDGEN:148290 semapv:UnspecifiedMatching MONDO:0600023 idiopathic inflammatory myopathy skos:exactMatch NCIT:C116796 Idiopathic Inflammatory Myopathy semapv:UnspecifiedMatching MONDO:0600023 idiopathic inflammatory myopathy skos:exactMatch SCTID:702380008 semapv:UnspecifiedMatching MONDO:0600023 idiopathic inflammatory myopathy skos:exactMatch UMLS:C0751356 semapv:UnspecifiedMatching MONDO:0600024 familial idiopathic inflammatory myopathy skos:exactMatch MEDGEN:854861 semapv:UnspecifiedMatching MONDO:0600024 familial idiopathic inflammatory myopathy skos:exactMatch OMIM:160750 myositis semapv:UnspecifiedMatching MONDO:0600024 familial idiopathic inflammatory myopathy skos:exactMatch UMLS:C3888318 semapv:UnspecifiedMatching MONDO:0600024 familial idiopathic inflammatory myopathy skos:exactMatch mesh:C000598744 semapv:UnspecifiedMatching MONDO:0600025 hydrosalpinx skos:exactMatch MEDGEN:526227 semapv:UnspecifiedMatching MONDO:0600025 hydrosalpinx skos:exactMatch NCIT:C142886 Hydrosalpinx semapv:UnspecifiedMatching MONDO:0600025 hydrosalpinx skos:exactMatch UMLS:C0221376 semapv:UnspecifiedMatching MONDO:0600025 hydrosalpinx skos:exactMatch icd11.foundation:1766606192 Hydrosalpinx semapv:UnspecifiedMatching MONDO:0600029 restrictive pulmonary disease skos:exactMatch MEDGEN:43209 semapv:UnspecifiedMatching MONDO:0600029 restrictive pulmonary disease skos:exactMatch NCIT:C91762 Restrictive Lung Disease semapv:UnspecifiedMatching MONDO:0600029 restrictive pulmonary disease skos:exactMatch SCTID:36485005 semapv:UnspecifiedMatching MONDO:0600029 restrictive pulmonary disease skos:exactMatch UMLS:C0085581 semapv:UnspecifiedMatching MONDO:0600030 B-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1) skos:exactMatch DOID:0080649 B-lymphoblastic leukemia/lymphoma with TCF3-PBX1 semapv:UnspecifiedMatching MONDO:0600030 B-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1) skos:exactMatch MEDGEN:396324 semapv:UnspecifiedMatching MONDO:0600030 B-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1) skos:exactMatch NCIT:C80347 B Acute Lymphoblastic Leukemia with t(1;19)(q23;p13.3); TCF3-PBX1 semapv:UnspecifiedMatching MONDO:0600030 B-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1) skos:exactMatch Orphanet:585956 B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) semapv:UnspecifiedMatching MONDO:0600030 B-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1) skos:exactMatch SCTID:450956008 semapv:UnspecifiedMatching MONDO:0600030 B-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1) skos:exactMatch UMLS:C2698315 semapv:UnspecifiedMatching MONDO:0700001 shrinking lung syndrome skos:exactMatch MEDGEN:743060 semapv:UnspecifiedMatching MONDO:0700001 shrinking lung syndrome skos:exactMatch UMLS:C1960277 semapv:UnspecifiedMatching MONDO:0700005 idiopathic skos:exactMatch icd11.foundation:894194405 semapv:UnspecifiedMatching MONDO:0700007 idiopathic disease skos:exactMatch MEDGEN:548250 semapv:UnspecifiedMatching MONDO:0700007 idiopathic disease skos:exactMatch UMLS:C0277553 semapv:UnspecifiedMatching MONDO:0700015 chromosome 8 disorder skos:exactMatch MEDGEN:539233 semapv:UnspecifiedMatching MONDO:0700015 chromosome 8 disorder skos:exactMatch SCTID:48082007 semapv:UnspecifiedMatching MONDO:0700015 chromosome 8 disorder skos:exactMatch UMLS:C0265418 semapv:UnspecifiedMatching MONDO:0700030 complete trisomy 21 skos:exactMatch MEDGEN:1624021 semapv:UnspecifiedMatching MONDO:0700030 complete trisomy 21 skos:exactMatch UMLS:C4521042 semapv:UnspecifiedMatching MONDO:0700032 complete trisomy 18 skos:exactMatch MEDGEN:56262 semapv:UnspecifiedMatching MONDO:0700032 complete trisomy 18 skos:exactMatch UMLS:C0152096 semapv:UnspecifiedMatching MONDO:0700035 monosomy chromosome 8 skos:exactMatch mesh:C537823 semapv:UnspecifiedMatching MONDO:0700036 fibrothecoma skos:exactMatch MEDGEN:1668953 semapv:UnspecifiedMatching MONDO:0700036 fibrothecoma skos:exactMatch UMLS:C4721918 semapv:UnspecifiedMatching MONDO:0700038 TDP-43 proteinopathy skos:exactMatch MEDGEN:439336 semapv:UnspecifiedMatching MONDO:0700038 TDP-43 proteinopathy skos:exactMatch UMLS:C2718017 semapv:UnspecifiedMatching MONDO:0700038 TDP-43 proteinopathy skos:exactMatch mesh:D057177 semapv:UnspecifiedMatching MONDO:0700039 bladder exstrophy-epispadias-cloacal extrophy complex skos:exactMatch MEDGEN:374033 semapv:UnspecifiedMatching MONDO:0700039 bladder exstrophy-epispadias-cloacal extrophy complex skos:exactMatch OMIM:600057 bladder exstrophy and epispadias complex semapv:UnspecifiedMatching MONDO:0700039 bladder exstrophy-epispadias-cloacal extrophy complex skos:exactMatch UMLS:C1838703 semapv:UnspecifiedMatching MONDO:0700040 neonatal jaundice due to ABO incompatibility skos:exactMatch MEDGEN:1683766 semapv:UnspecifiedMatching MONDO:0700040 neonatal jaundice due to ABO incompatibility skos:exactMatch SCTID:16716281000119108 semapv:UnspecifiedMatching MONDO:0700040 neonatal jaundice due to ABO incompatibility skos:exactMatch UMLS:C5190730 semapv:UnspecifiedMatching MONDO:0700041 neuroblastoma, susceptibility to, 2 skos:exactMatch MEDGEN:416607 semapv:UnspecifiedMatching MONDO:0700041 neuroblastoma, susceptibility to, 2 skos:exactMatch OMIM:613013 neuroblastoma, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0700041 neuroblastoma, susceptibility to, 2 skos:exactMatch UMLS:C2751682 semapv:UnspecifiedMatching MONDO:0700045 protothecosis skos:exactMatch MEDGEN:508074 semapv:UnspecifiedMatching MONDO:0700045 protothecosis skos:exactMatch UMLS:C0033735 semapv:UnspecifiedMatching MONDO:0700045 protothecosis skos:exactMatch icd11.foundation:2034403589 Protothecosis semapv:UnspecifiedMatching MONDO:0700048 hand-foot syndrome skos:exactMatch MEDGEN:107497 semapv:UnspecifiedMatching MONDO:0700048 hand-foot syndrome skos:exactMatch NCIT:C27177 Palmar-Plantar Erythrodysthesia semapv:UnspecifiedMatching MONDO:0700048 hand-foot syndrome skos:exactMatch UMLS:C0549410 semapv:UnspecifiedMatching MONDO:0700048 hand-foot syndrome skos:exactMatch mesh:D060831 semapv:UnspecifiedMatching MONDO:0700051 liver abscess (disease) skos:exactMatch ICD10CM:K75.0 Abscess of liver semapv:UnspecifiedMatching MONDO:0700051 liver abscess (disease) skos:exactMatch NCIT:C99089 Liver Abscess semapv:UnspecifiedMatching MONDO:0700051 liver abscess (disease) skos:exactMatch SCTID:27916005 semapv:UnspecifiedMatching MONDO:0700051 liver abscess (disease) skos:exactMatch icd11.foundation:1323593849 Abscess of liver semapv:UnspecifiedMatching MONDO:0700052 intersphincteric abscess skos:exactMatch ICD10CM:K61.4 Intrasphincteric abscess semapv:UnspecifiedMatching MONDO:0700052 intersphincteric abscess skos:exactMatch MEDGEN:574358 semapv:UnspecifiedMatching MONDO:0700052 intersphincteric abscess skos:exactMatch SCTID:235795007 semapv:UnspecifiedMatching MONDO:0700052 intersphincteric abscess skos:exactMatch UMLS:C0341384 semapv:UnspecifiedMatching MONDO:0700057 neurological pain disorder skos:exactMatch MEDGEN:602552 semapv:UnspecifiedMatching MONDO:0700057 neurological pain disorder skos:exactMatch UMLS:C0423704 semapv:UnspecifiedMatching MONDO:0700058 Morton neuroma skos:exactMatch MEDGEN:90231 semapv:UnspecifiedMatching MONDO:0700058 Morton neuroma skos:exactMatch NCIT:C4075 Morton Neuroma semapv:UnspecifiedMatching MONDO:0700058 Morton neuroma skos:exactMatch SCTID:30085007 semapv:UnspecifiedMatching MONDO:0700058 Morton neuroma skos:exactMatch UMLS:C0311337 semapv:UnspecifiedMatching MONDO:0700060 leukemia, acute, X-linked skos:exactMatch MEDGEN:502257 semapv:UnspecifiedMatching MONDO:0700060 leukemia, acute, X-linked skos:exactMatch OMIM:308960 leukemia, acute, X-linked semapv:UnspecifiedMatching MONDO:0700060 leukemia, acute, X-linked skos:exactMatch UMLS:C3501854 semapv:UnspecifiedMatching MONDO:0700064 aneuploidy skos:exactMatch MEDGEN:294 semapv:UnspecifiedMatching MONDO:0700064 aneuploidy skos:exactMatch NCIT:C2873 Aneuploidy semapv:UnspecifiedMatching MONDO:0700064 aneuploidy skos:exactMatch UMLS:C0002938 semapv:UnspecifiedMatching MONDO:0700064 aneuploidy skos:exactMatch mesh:D000782 semapv:UnspecifiedMatching MONDO:0700065 trisomy skos:exactMatch MEDGEN:21702 semapv:UnspecifiedMatching MONDO:0700065 trisomy skos:exactMatch UMLS:C0041107 semapv:UnspecifiedMatching MONDO:0700065 trisomy skos:exactMatch mesh:D014314 semapv:UnspecifiedMatching MONDO:0700073 glutaric acidemia IIa skos:exactMatch MEDGEN:479784 semapv:UnspecifiedMatching MONDO:0700073 glutaric acidemia IIa skos:exactMatch UMLS:C3278154 semapv:UnspecifiedMatching MONDO:0700074 glutaric acidemia IIb skos:exactMatch MEDGEN:479785 semapv:UnspecifiedMatching MONDO:0700074 glutaric acidemia IIb skos:exactMatch UMLS:C3278155 semapv:UnspecifiedMatching MONDO:0700076 glutaric acidemia IIc skos:exactMatch MEDGEN:479786 semapv:UnspecifiedMatching MONDO:0700076 glutaric acidemia IIc skos:exactMatch UMLS:C3278156 semapv:UnspecifiedMatching MONDO:0700077 vitiligo-associated multiple autoimmune disease susceptibility 6 skos:exactMatch MEDGEN:479331 semapv:UnspecifiedMatching MONDO:0700077 vitiligo-associated multiple autoimmune disease susceptibility 6 skos:exactMatch OMIM:193200 vitiligo-associated multiple autoimmune disease susceptibility 6 semapv:UnspecifiedMatching MONDO:0700077 vitiligo-associated multiple autoimmune disease susceptibility 6 skos:exactMatch UMLS:C3277701 semapv:UnspecifiedMatching MONDO:0700078 triple-positive breast carcinoma skos:exactMatch MEDGEN:1825949 semapv:UnspecifiedMatching MONDO:0700078 triple-positive breast carcinoma skos:exactMatch NCIT:C118311 Hormone Receptor/HER2 Positive semapv:UnspecifiedMatching MONDO:0700078 triple-positive breast carcinoma skos:exactMatch UMLS:C5243562 semapv:UnspecifiedMatching MONDO:0700079 hormone receptor-positive breast cancer skos:broadMatch NCIT:C157056 Hormone Receptor-Positive Breast Carcinoma semapv:UnspecifiedMatching MONDO:0700079 hormone receptor-positive breast cancer skos:exactMatch MEDGEN:1825950 semapv:UnspecifiedMatching MONDO:0700079 hormone receptor-positive breast cancer skos:exactMatch UMLS:C5442556 semapv:UnspecifiedMatching MONDO:0700081 newborn respiratory distress syndrome skos:exactMatch DOID:12716 newborn respiratory distress syndrome semapv:UnspecifiedMatching MONDO:0700081 newborn respiratory distress syndrome skos:exactMatch EFO:1000644 semapv:UnspecifiedMatching MONDO:0700081 newborn respiratory distress syndrome skos:exactMatch ICD10CM:P22.0 Respiratory distress syndrome of newborn semapv:UnspecifiedMatching MONDO:0700081 newborn respiratory distress syndrome skos:exactMatch NCIT:C27560 Respiratory Distress Syndrome semapv:UnspecifiedMatching MONDO:0700081 newborn respiratory distress syndrome skos:exactMatch SCTID:46775006 semapv:UnspecifiedMatching MONDO:0700082 Robertsonian translocation Down syndrome skos:exactMatch MEDGEN:1816520 semapv:UnspecifiedMatching MONDO:0700082 Robertsonian translocation Down syndrome skos:exactMatch NCIT:C188150 Robertsonian Translocation Down Syndrome semapv:UnspecifiedMatching MONDO:0700082 Robertsonian translocation Down syndrome skos:exactMatch UMLS:C5707615 semapv:UnspecifiedMatching MONDO:0700086 uniparental disomy skos:exactMatch MEDGEN:181871 semapv:UnspecifiedMatching MONDO:0700086 uniparental disomy skos:exactMatch NCIT:C85215 Uniparental Disomy semapv:UnspecifiedMatching MONDO:0700086 uniparental disomy skos:exactMatch UMLS:C0949628 semapv:UnspecifiedMatching MONDO:0700086 uniparental disomy skos:exactMatch mesh:D024182 semapv:UnspecifiedMatching MONDO:0700087 Usher syndrome type 1B skos:exactMatch DOID:0070655 Usher syndrome type 1B semapv:UnspecifiedMatching MONDO:0700087 Usher syndrome type 1B skos:exactMatch MEDGEN:419358 semapv:UnspecifiedMatching MONDO:0700087 Usher syndrome type 1B skos:exactMatch OMIM:276900 usher syndrome, type 1 semapv:UnspecifiedMatching MONDO:0700087 Usher syndrome type 1B skos:exactMatch UMLS:C2931206 semapv:UnspecifiedMatching MONDO:0700087 Usher syndrome type 1B skos:exactMatch mesh:C536485 semapv:UnspecifiedMatching MONDO:0700088 paroxysmal nonkinesigenic dyskinesia skos:exactMatch MEDGEN:401504 semapv:UnspecifiedMatching MONDO:0700088 paroxysmal nonkinesigenic dyskinesia skos:exactMatch Orphanet:98810 Paroxysmal non-kinesigenic dyskinesia semapv:UnspecifiedMatching MONDO:0700088 paroxysmal nonkinesigenic dyskinesia skos:exactMatch UMLS:C1869117 semapv:UnspecifiedMatching MONDO:0700089 paroxysmal nonkinesigenic dyskinesia 1 skos:exactMatch DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 semapv:UnspecifiedMatching MONDO:0700089 paroxysmal nonkinesigenic dyskinesia 1 skos:exactMatch MEDGEN:1631383 semapv:UnspecifiedMatching MONDO:0700089 paroxysmal nonkinesigenic dyskinesia 1 skos:exactMatch OMIM:118800 paroxysmal nonkinesigenic dyskinesia 1 semapv:UnspecifiedMatching MONDO:0700089 paroxysmal nonkinesigenic dyskinesia 1 skos:exactMatch UMLS:C4551506 semapv:UnspecifiedMatching MONDO:0700090 epilepsy, familial temporal lobe, 1 skos:exactMatch DOID:0060748 familial temporal lobe epilepsy 1 semapv:UnspecifiedMatching MONDO:0700090 epilepsy, familial temporal lobe, 1 skos:exactMatch NCIT:C141441 Autosomal Dominant Lateral Temporal Lobe Epilepsy semapv:UnspecifiedMatching MONDO:0700090 epilepsy, familial temporal lobe, 1 skos:exactMatch OMIM:600512 epilepsy, familial temporal lobe, 1 semapv:UnspecifiedMatching MONDO:0700091 ring chromosome disorder skos:exactMatch DOID:0070620 ring chromosome syndrome semapv:UnspecifiedMatching MONDO:0700091 ring chromosome disorder skos:exactMatch NCIT:C3360 Supernumerary Circular Chromosome semapv:UnspecifiedMatching MONDO:0700091 ring chromosome disorder skos:exactMatch mesh:D012303 semapv:UnspecifiedMatching MONDO:0700092 neurodevelopmental disorder skos:exactMatch EFO:0010642 semapv:UnspecifiedMatching MONDO:0700092 neurodevelopmental disorder skos:exactMatch MEDGEN:453059 semapv:UnspecifiedMatching MONDO:0700092 neurodevelopmental disorder skos:exactMatch NCIT:C89338 Neurodevelopmental Disorder semapv:UnspecifiedMatching MONDO:0700092 neurodevelopmental disorder skos:exactMatch SCTID:700364009 semapv:UnspecifiedMatching MONDO:0700092 neurodevelopmental disorder skos:exactMatch UMLS:C1535926 semapv:UnspecifiedMatching MONDO:0700092 neurodevelopmental disorder skos:exactMatch mesh:D065886 semapv:UnspecifiedMatching MONDO:0700107 chromosome 19q13.11 deletion syndrome, distal skos:exactMatch MEDGEN:935015 semapv:UnspecifiedMatching MONDO:0700107 chromosome 19q13.11 deletion syndrome, distal skos:exactMatch OMIM:613026 chromosome 19q13.11 deletion syndrome, distal semapv:UnspecifiedMatching MONDO:0700107 chromosome 19q13.11 deletion syndrome, distal skos:exactMatch UMLS:C4311048 semapv:UnspecifiedMatching MONDO:0700112 heterotaxy, visceral, 5, autosomal skos:exactMatch MEDGEN:501198 semapv:UnspecifiedMatching MONDO:0700112 heterotaxy, visceral, 5, autosomal skos:exactMatch OMIM:270100 heterotaxy, visceral, 5, autosomal semapv:UnspecifiedMatching MONDO:0700112 heterotaxy, visceral, 5, autosomal skos:exactMatch UMLS:C3495537 semapv:UnspecifiedMatching MONDO:0700115 proliferative vitreoretinopathy skos:exactMatch MEDGEN:66167 semapv:UnspecifiedMatching MONDO:0700115 proliferative vitreoretinopathy skos:exactMatch SCTID:232016005 semapv:UnspecifiedMatching MONDO:0700115 proliferative vitreoretinopathy skos:exactMatch UMLS:C0242852 semapv:UnspecifiedMatching MONDO:0700115 proliferative vitreoretinopathy skos:exactMatch icd11.foundation:1908429642 Proliferative vitreoretinopathy semapv:UnspecifiedMatching MONDO:0700115 proliferative vitreoretinopathy skos:exactMatch mesh:D018630 semapv:UnspecifiedMatching MONDO:0700117 SLC6A3-related dopamine transporter deficiency syndrome skos:exactMatch DOID:0070487 dopamine transporter deficiency syndrome semapv:UnspecifiedMatching MONDO:0700118 proximal chromosome 18q deletion syndrome skos:exactMatch MEDGEN:1634938 semapv:UnspecifiedMatching MONDO:0700118 proximal chromosome 18q deletion syndrome skos:exactMatch UMLS:C4707101 semapv:UnspecifiedMatching MONDO:0700119 distal chromosome 18q deletion syndrome skos:exactMatch MEDGEN:1382173 semapv:UnspecifiedMatching MONDO:0700119 distal chromosome 18q deletion syndrome skos:exactMatch UMLS:C4329736 semapv:UnspecifiedMatching MONDO:0700126 trisomy 21 skos:exactMatch MEDGEN:760825 semapv:UnspecifiedMatching MONDO:0700126 trisomy 21 skos:exactMatch UMLS:C3537167 semapv:UnspecifiedMatching MONDO:0700127 mosaic trisomy 21 skos:exactMatch MEDGEN:419386 semapv:UnspecifiedMatching MONDO:0700127 mosaic trisomy 21 skos:exactMatch UMLS:C2931324 semapv:UnspecifiedMatching MONDO:0700128 translocation Down syndrome skos:exactMatch MEDGEN:693553 semapv:UnspecifiedMatching MONDO:0700128 translocation Down syndrome skos:exactMatch UMLS:C1269751 semapv:UnspecifiedMatching MONDO:0700134 bovine neoplasm skos:exactMatch NCIT:C134527 Bovine Neoplasm semapv:UnspecifiedMatching MONDO:0700135 bovine leukemia skos:exactMatch NCIT:C131469 Bovine Leukemia semapv:UnspecifiedMatching MONDO:0700136 bovine protoporphyria skos:exactMatch NCIT:C131472 Bovine Protoporphyria semapv:UnspecifiedMatching MONDO:0700137 bovine lymphosarcoma skos:exactMatch NCIT:C134767 Bovine Lymphosarcoma semapv:UnspecifiedMatching MONDO:0700138 bovine rectal myxoma skos:exactMatch NCIT:C134768 Bovine Rectal Myxoma semapv:UnspecifiedMatching MONDO:0700139 canine neoplasm skos:exactMatch NCIT:C134526 Canine Neoplasm semapv:UnspecifiedMatching MONDO:0700140 canine osteosarcoma skos:exactMatch NCIT:C120045 Canine Osteosarcoma semapv:UnspecifiedMatching MONDO:0700141 canine melanoma skos:exactMatch NCIT:C120298 Canine Melanoma semapv:UnspecifiedMatching MONDO:0700142 canine hemangiosarcoma skos:exactMatch NCIT:C122783 Canine Hemangiosarcoma semapv:UnspecifiedMatching MONDO:0700143 canine mammary carcinoma skos:exactMatch NCIT:C124249 Canine Mammary Carcinoma semapv:UnspecifiedMatching MONDO:0700144 canine leukemia skos:exactMatch NCIT:C128120 Canine Leukemia semapv:UnspecifiedMatching MONDO:0700145 canine lymphoma skos:exactMatch NCIT:C128121 Canine Lymphoma semapv:UnspecifiedMatching MONDO:0700146 canine prostate carcinoma skos:exactMatch NCIT:C128122 Canine Prostate Carcinoma semapv:UnspecifiedMatching MONDO:0700147 canine histiocytic sarcoma skos:exactMatch NCIT:C128125 Canine Histiocytic Sarcoma semapv:UnspecifiedMatching MONDO:0700148 canine transitional cell carcinoma skos:exactMatch NCIT:C128126 Canine Transitional Cell Carcinoma semapv:UnspecifiedMatching MONDO:0700149 canine sarcoma skos:exactMatch NCIT:C128195 Canine Sarcoma semapv:UnspecifiedMatching MONDO:0700150 canine mastocytoma skos:exactMatch NCIT:C129077 Canine Mastocytoma semapv:UnspecifiedMatching MONDO:0700151 canine glioma skos:exactMatch NCIT:C129297 Canine Glioma semapv:UnspecifiedMatching MONDO:0700152 canine hepatocellular carcinoma skos:exactMatch NCIT:C129298 Canine Hepatocellular Carcinoma semapv:UnspecifiedMatching MONDO:0700153 canine lung adenocarcinoma skos:exactMatch NCIT:C129299 Canine Lung Adenocarcinoma semapv:UnspecifiedMatching MONDO:0700154 canine rhabdomyosarcoma skos:exactMatch NCIT:C129300 Canine Rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0700155 canine thyroid adenocarcinoma skos:exactMatch NCIT:C132275 Canine Thyroid Adenocarcinoma semapv:UnspecifiedMatching MONDO:0700156 canine soft tissue sarcoma skos:exactMatch NCIT:C132276 Canine Soft Tissue Sarcoma semapv:UnspecifiedMatching MONDO:0700157 canine oral squamous cell carcinoma skos:exactMatch NCIT:C132823 Canine Oral Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0700158 canine pancreatic carcinoma skos:exactMatch NCIT:C134944 Canine Pancreatic Carcinoma semapv:UnspecifiedMatching MONDO:0700159 canine acanthomatous epulis skos:exactMatch NCIT:C134956 Canine Acanthomatous Epulis semapv:UnspecifiedMatching MONDO:0700160 canine mammary adenoma skos:exactMatch NCIT:C147073 Canine Mammary Adenoma semapv:UnspecifiedMatching MONDO:0700161 canine gastrointestinal stromal tumor skos:exactMatch NCIT:C158783 Canine Gastrointestinal Stromal Tumor semapv:UnspecifiedMatching MONDO:0700162 canine granular cell tumor skos:exactMatch NCIT:C158784 Canine Granular Cell Tumor semapv:UnspecifiedMatching MONDO:0700163 canine Langerhans cell histiocytosis skos:exactMatch NCIT:C158785 Canine Langerhans Cell Histiocytosis semapv:UnspecifiedMatching MONDO:0700164 canine nephroblastoma skos:exactMatch NCIT:C158786 Canine Nephroblastoma semapv:UnspecifiedMatching MONDO:0700165 canine thyroid gland medullary carcinoma skos:exactMatch NCIT:C161006 Canine Thyroid Gland Medullary Carcinoma semapv:UnspecifiedMatching MONDO:0700166 canine transmissible venereal tumor skos:exactMatch NCIT:C162473 Canine Transmissible Venereal Tumor semapv:UnspecifiedMatching MONDO:0700167 canine sebaceous gland epithelioma skos:exactMatch NCIT:C176701 Canine Sebaceous Gland Epithelioma semapv:UnspecifiedMatching MONDO:0700168 canine oral melanoma skos:exactMatch NCIT:C185639 Canine Oral Melanoma semapv:UnspecifiedMatching MONDO:0700169 canine cutaneous t-cell lymphoma skos:exactMatch NCIT:C186279 Canine Cutaneous T-Cell Lymphoma semapv:UnspecifiedMatching MONDO:0700171 horse melanoma skos:exactMatch NCIT:C134569 Horse Melanoma semapv:UnspecifiedMatching MONDO:0700172 horse lymphoma skos:exactMatch NCIT:C134778 Horse Lymphoma semapv:UnspecifiedMatching MONDO:0700173 horse sarcoid skos:exactMatch NCIT:C134995 Horse Sarcoid semapv:UnspecifiedMatching MONDO:0700174 horse transitional cell carcinoma skos:exactMatch NCIT:C173624 Horse Transitional Cell Carcinoma semapv:UnspecifiedMatching MONDO:0700176 feline lymphoma skos:exactMatch NCIT:C132193 Feline Lymphoma semapv:UnspecifiedMatching MONDO:0700177 feline mammary carcinoma skos:exactMatch NCIT:C132274 Feline Mammary Carcinoma semapv:UnspecifiedMatching MONDO:0700178 feline oral squamous cell carcinoma skos:exactMatch NCIT:C132824 Feline Oral Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0700179 feline osteosarcoma skos:exactMatch NCIT:C132825 Feline Osteosarcoma semapv:UnspecifiedMatching MONDO:0700180 feline bronchioloalveolar lung carcinoma skos:exactMatch NCIT:C134559 Feline Bronchioloalveolar Lung Carcinoma semapv:UnspecifiedMatching MONDO:0700181 feline fibrosarcoma skos:exactMatch NCIT:C134560 Feline Fibrosarcoma semapv:UnspecifiedMatching MONDO:0700182 feline erythroleukemia skos:exactMatch NCIT:C134770 Feline Erythroleukemia semapv:UnspecifiedMatching MONDO:0700183 feline reticulum cell sarcoma skos:exactMatch NCIT:C135008 Feline Reticulum Cell Sarcoma semapv:UnspecifiedMatching MONDO:0700184 feline large granular lymphocyte lymphoma skos:exactMatch NCIT:C135724 Feline Large Granular Lymphocyte Lymphoma semapv:UnspecifiedMatching MONDO:0700185 feline melanoma skos:exactMatch NCIT:C156362 Feline Melanoma semapv:UnspecifiedMatching MONDO:0700186 feline histiocytic sarcoma skos:exactMatch NCIT:C157503 Feline Histiocytic Sarcoma semapv:UnspecifiedMatching MONDO:0700187 feline progressive histiocytosis skos:exactMatch NCIT:C176702 Feline Progressive Histiocytosis semapv:UnspecifiedMatching MONDO:0700188 feline synovial cell sarcoma skos:exactMatch NCIT:C181658 Feline Synovial Cell Sarcoma semapv:UnspecifiedMatching MONDO:0700189 chicken neoplasm skos:exactMatch NCIT:C135005 Chicken Neoplasm semapv:UnspecifiedMatching MONDO:0700190 chicken bursal lymphoma skos:exactMatch NCIT:C134556 Chicken Bursal Lymphoma semapv:UnspecifiedMatching MONDO:0700191 chicken fibrosarcoma skos:exactMatch NCIT:C134557 Chicken Fibrosarcoma semapv:UnspecifiedMatching MONDO:0700192 chicken hepatoma skos:exactMatch NCIT:C134558 Chicken Hepatoma semapv:UnspecifiedMatching MONDO:0700193 chicken monocytic leukemia skos:exactMatch NCIT:C134945 Chicken Monocytic Leukemia semapv:UnspecifiedMatching MONDO:0700194 chicken lymphoma skos:exactMatch NCIT:C135004 Chicken Lymphoma semapv:UnspecifiedMatching MONDO:0700195 rous sarcoma skos:exactMatch NCIT:C17466 Rous Sarcoma semapv:UnspecifiedMatching MONDO:0700196 fish melanoma skos:exactMatch NCIT:C135006 Fish Melanoma semapv:UnspecifiedMatching MONDO:0700197 porcine leukemia skos:exactMatch NCIT:C141365 Porcine Leukemia semapv:UnspecifiedMatching MONDO:0700198 porcine lymphoma skos:exactMatch NCIT:C134786 Porcine Lymphoma semapv:UnspecifiedMatching MONDO:0700199 sheep lung adenocarcinoma skos:exactMatch NCIT:C147532 Sheep Lung Adenocarcinoma semapv:UnspecifiedMatching MONDO:0700200 atypical dopamine transporter deficiency syndrome skos:exactMatch DOID:0070488 atypical dopamine transporter deficiency syndrome semapv:UnspecifiedMatching MONDO:0700207 constitutional delay of growth and puberty skos:exactMatch MEDGEN:575091 semapv:UnspecifiedMatching MONDO:0700207 constitutional delay of growth and puberty skos:exactMatch SCTID:237813007 semapv:UnspecifiedMatching MONDO:0700207 constitutional delay of growth and puberty skos:exactMatch UMLS:C0342538 semapv:UnspecifiedMatching MONDO:0700207 constitutional delay of growth and puberty skos:exactMatch icd11.foundation:1683573263 Constitutional delay of growth and puberty semapv:UnspecifiedMatching MONDO:0700217 neonatal sepsis skos:exactMatch MEDGEN:96816 semapv:UnspecifiedMatching MONDO:0700217 neonatal sepsis skos:exactMatch UMLS:C0456103 semapv:UnspecifiedMatching MONDO:0700218 group B streptococcal infection skos:exactMatch MEDGEN:378336 semapv:UnspecifiedMatching MONDO:0700218 group B streptococcal infection skos:exactMatch NCIT:C87168 Group B Streptococcal Infection semapv:UnspecifiedMatching MONDO:0700218 group B streptococcal infection skos:exactMatch UMLS:C2020625 semapv:UnspecifiedMatching MONDO:0700219 neoplastic meningitis skos:exactMatch MEDGEN:352817 semapv:UnspecifiedMatching MONDO:0700219 neoplastic meningitis skos:exactMatch NCIT:C27383 Meningeal Carcinomatosis semapv:UnspecifiedMatching MONDO:0700219 neoplastic meningitis skos:exactMatch NCIT:C3814 Metastatic Malignant Neoplasm in the Leptomeninges semapv:UnspecifiedMatching MONDO:0700219 neoplastic meningitis skos:exactMatch UMLS:C1704231 semapv:UnspecifiedMatching MONDO:0700219 neoplastic meningitis skos:exactMatch icd11.foundation:262966673 Neoplastic meningitis semapv:UnspecifiedMatching MONDO:0700220 disease related to transplantation skos:exactMatch MEDGEN:745174 semapv:UnspecifiedMatching MONDO:0700220 disease related to transplantation skos:exactMatch Orphanet:306644 Complication after organ transplantation semapv:UnspecifiedMatching MONDO:0700220 disease related to transplantation skos:exactMatch UMLS:C1998172 semapv:UnspecifiedMatching MONDO:0700225 hereditary gallbladder disorder skos:exactMatch OMIMPS:600803 Gallbladder disease semapv:UnspecifiedMatching MONDO:0700226 food allergy skos:exactMatch DOID:3044 food allergy semapv:UnspecifiedMatching MONDO:0700226 food allergy skos:exactMatch EFO:1001890 semapv:UnspecifiedMatching MONDO:0700226 food allergy skos:exactMatch MEDGEN:1635115 semapv:UnspecifiedMatching MONDO:0700226 food allergy skos:exactMatch SCTID:414285001 semapv:UnspecifiedMatching MONDO:0700226 food allergy skos:exactMatch UMLS:C4554344 semapv:UnspecifiedMatching MONDO:0700226 food allergy skos:exactMatch mesh:D005512 semapv:UnspecifiedMatching MONDO:0700245 epidermolytic hyperkeratosis 2B, autosomal recessive skos:exactMatch DOID:0061208 epidermolytic hyperkeratosis 2B semapv:UnspecifiedMatching MONDO:0700245 epidermolytic hyperkeratosis 2B, autosomal recessive skos:exactMatch MEDGEN:1845041 semapv:UnspecifiedMatching MONDO:0700245 epidermolytic hyperkeratosis 2B, autosomal recessive skos:exactMatch OMIM:620707 epidermolytic hyperkeratosis 2b, autosomal recessive semapv:UnspecifiedMatching MONDO:0700245 epidermolytic hyperkeratosis 2B, autosomal recessive skos:exactMatch UMLS:C5882753 semapv:UnspecifiedMatching MONDO:0700247 RAB18 deficiency skos:exactMatch MEDGEN:1650928 semapv:UnspecifiedMatching MONDO:0700247 RAB18 deficiency skos:exactMatch UMLS:C4750414 semapv:UnspecifiedMatching MONDO:0700248 epidermolytic hyperkeratosis 2A, autosomal dominant skos:exactMatch DOID:0061223 epidermolytic hyperkeratosis 2A semapv:UnspecifiedMatching MONDO:0700248 epidermolytic hyperkeratosis 2A, autosomal dominant skos:exactMatch MEDGEN:1846123 semapv:UnspecifiedMatching MONDO:0700248 epidermolytic hyperkeratosis 2A, autosomal dominant skos:exactMatch OMIM:620150 epidermolytic hyperkeratosis 2a, autosomal dominant semapv:UnspecifiedMatching MONDO:0700248 epidermolytic hyperkeratosis 2A, autosomal dominant skos:exactMatch UMLS:C5882671 semapv:UnspecifiedMatching MONDO:0700249 epidermolytic hyperkeratosis 1 skos:exactMatch DOID:0081358 epidermolytic hyperkeratosis 1 semapv:UnspecifiedMatching MONDO:0700249 epidermolytic hyperkeratosis 1 skos:exactMatch MEDGEN:1826137 semapv:UnspecifiedMatching MONDO:0700249 epidermolytic hyperkeratosis 1 skos:exactMatch OMIM:113800 epidermolytic hyperkeratosis 1 semapv:UnspecifiedMatching MONDO:0700249 epidermolytic hyperkeratosis 1 skos:exactMatch UMLS:C5781874 semapv:UnspecifiedMatching MONDO:0700250 mitochondrial complex IV deficiency, nuclear type 1 skos:exactMatch DOID:0070491 mitochondrial complex IV deficiency nuclear type 1 semapv:UnspecifiedMatching MONDO:0700250 mitochondrial complex IV deficiency, nuclear type 1 skos:exactMatch MEDGEN:1750917 semapv:UnspecifiedMatching MONDO:0700250 mitochondrial complex IV deficiency, nuclear type 1 skos:exactMatch OMIM:220110 mitochondrial complex 4 deficiency, nuclear type 1 semapv:UnspecifiedMatching MONDO:0700250 mitochondrial complex IV deficiency, nuclear type 1 skos:exactMatch UMLS:C5435656 semapv:UnspecifiedMatching MONDO:0700251 orofacial cleft 7 skos:exactMatch DOID:0080400 orofacial cleft 7 semapv:UnspecifiedMatching MONDO:0700251 orofacial cleft 7 skos:exactMatch MEDGEN:371589 semapv:UnspecifiedMatching MONDO:0700251 orofacial cleft 7 skos:exactMatch UMLS:C1833538 semapv:UnspecifiedMatching MONDO:0700264 type 1 interferonopathy skos:exactMatch MEDGEN:1712223 semapv:UnspecifiedMatching MONDO:0700264 type 1 interferonopathy skos:exactMatch Orphanet:477647 Type 1 interferonopathy semapv:UnspecifiedMatching MONDO:0700264 type 1 interferonopathy skos:exactMatch UMLS:C5394397 semapv:UnspecifiedMatching MONDO:0700271 CHEK2-related cancer predisposition skos:exactMatch MEDGEN:1849727 semapv:UnspecifiedMatching MONDO:0700271 CHEK2-related cancer predisposition skos:exactMatch UMLS:C5882668 semapv:UnspecifiedMatching MONDO:0700275 prostate cancer, hereditary skos:exactMatch MEDGEN:419810 semapv:UnspecifiedMatching MONDO:0700275 prostate cancer, hereditary skos:exactMatch OMIM:176807 prostate cancer semapv:UnspecifiedMatching MONDO:0700275 prostate cancer, hereditary skos:exactMatch Orphanet:1331 Familial prostate cancer semapv:UnspecifiedMatching MONDO:0700275 prostate cancer, hereditary skos:exactMatch SCTID:715412008 semapv:UnspecifiedMatching MONDO:0700275 prostate cancer, hereditary skos:exactMatch UMLS:C2931456 semapv:UnspecifiedMatching MONDO:0700275 prostate cancer, hereditary skos:exactMatch mesh:C537243 semapv:UnspecifiedMatching MONDO:0700279 spastic triplegia skos:exactMatch MEDGEN:1814346 semapv:UnspecifiedMatching MONDO:0700279 spastic triplegia skos:exactMatch SCTID:702320006 semapv:UnspecifiedMatching MONDO:0700279 spastic triplegia skos:exactMatch UMLS:C5676777 semapv:UnspecifiedMatching MONDO:0700280 post-treatment Lyme disease syndrome skos:exactMatch MEDGEN:855646 semapv:UnspecifiedMatching MONDO:0700280 post-treatment Lyme disease syndrome skos:exactMatch NCIT:C119039 Post-Treatment Lyme Disease Syndrome semapv:UnspecifiedMatching MONDO:0700280 post-treatment Lyme disease syndrome skos:exactMatch UMLS:C3890422 semapv:UnspecifiedMatching MONDO:0700282 POLR3-related leukodystrophy skos:exactMatch MEDGEN:871615 semapv:UnspecifiedMatching MONDO:0700282 POLR3-related leukodystrophy skos:exactMatch UMLS:C4038750 semapv:UnspecifiedMatching MONDO:0700283 ataxic diplegic cerebral palsy skos:exactMatch MEDGEN:581729 semapv:UnspecifiedMatching MONDO:0700283 ataxic diplegic cerebral palsy skos:exactMatch UMLS:C0393997 semapv:UnspecifiedMatching MONDO:0700286 leukodystrophy, demyelinating, adult-onset, autosomal dominant, atypical skos:exactMatch DOID:0051014 atypical autosomal dominant adult-onset demyelinating leukodystrophy semapv:UnspecifiedMatching MONDO:0700286 leukodystrophy, demyelinating, adult-onset, autosomal dominant, atypical skos:exactMatch MEDGEN:1875111 semapv:UnspecifiedMatching MONDO:0700286 leukodystrophy, demyelinating, adult-onset, autosomal dominant, atypical skos:exactMatch OMIM:621061 leukodystrophy, demyelinating, adult-onset, autosomal dominant, atypical semapv:UnspecifiedMatching MONDO:0700286 leukodystrophy, demyelinating, adult-onset, autosomal dominant, atypical skos:exactMatch UMLS:C5975581 semapv:UnspecifiedMatching MONDO:0700288 early-childhood-onset neurodegeneration with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathy skos:exactMatch MEDGEN:1876471 semapv:UnspecifiedMatching MONDO:0700288 early-childhood-onset neurodegeneration with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathy skos:exactMatch OMIM:621129 neurodegeneration, early-childhood-onset, with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathy semapv:UnspecifiedMatching MONDO:0700288 early-childhood-onset neurodegeneration with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathy skos:exactMatch UMLS:C6012705 semapv:UnspecifiedMatching MONDO:0700290 spermatogenic failure 98 skos:exactMatch MEDGEN:1876475 semapv:UnspecifiedMatching MONDO:0700290 spermatogenic failure 98 skos:exactMatch OMIM:621124 spermatogenic failure 98 semapv:UnspecifiedMatching MONDO:0700290 spermatogenic failure 98 skos:exactMatch UMLS:C6012703 semapv:UnspecifiedMatching MONDO:0700291 glycogen storage disease IX skos:exactMatch DOID:0050594 glycogen storage disease IX semapv:UnspecifiedMatching MONDO:0700291 glycogen storage disease IX skos:exactMatch MEDGEN:468559 semapv:UnspecifiedMatching MONDO:0700291 glycogen storage disease IX skos:exactMatch NCIT:C122662 Glycogen Storage Disease Type IX semapv:UnspecifiedMatching MONDO:0700291 glycogen storage disease IX skos:exactMatch Orphanet:370 Glycogen storage disease due to phosphorylase kinase deficiency semapv:UnspecifiedMatching MONDO:0700291 glycogen storage disease IX skos:exactMatch SCTID:235908005 semapv:UnspecifiedMatching MONDO:0700291 glycogen storage disease IX skos:exactMatch UMLS:C0268147 semapv:UnspecifiedMatching MONDO:0700291 glycogen storage disease IX skos:exactMatch mesh:C580130 semapv:UnspecifiedMatching MONDO:0700292 desmoplastic fibroma skos:exactMatch MEDGEN:60200 semapv:UnspecifiedMatching MONDO:0700292 desmoplastic fibroma skos:exactMatch UMLS:C0206645 semapv:UnspecifiedMatching MONDO:0700295 leukodystrophy, demyelinating, adult-onset, autosomal dominant, typical skos:exactMatch OMIM:169500 leukodystrophy, demyelinating, adult-onset, autosomal dominant, typical semapv:UnspecifiedMatching MONDO:0700296 aflatoxicosis skos:exactMatch MEDGEN:546075 semapv:UnspecifiedMatching MONDO:0700296 aflatoxicosis skos:exactMatch UMLS:C0274911 semapv:UnspecifiedMatching MONDO:0700297 homocystinuria-megaloblastic anemia cblD type skos:exactMatch MEDGEN:341254 semapv:UnspecifiedMatching MONDO:0700297 homocystinuria-megaloblastic anemia cblD type skos:exactMatch OMIM:620952 homocystinuria-megaloblastic anemia, cbld type semapv:UnspecifiedMatching MONDO:0700297 homocystinuria-megaloblastic anemia cblD type skos:exactMatch UMLS:C1848553 semapv:UnspecifiedMatching MONDO:0700298 isolated methylmalonic aciduria cblD type skos:exactMatch OMIM:620953 methylmalonic aciduria, cbld type semapv:UnspecifiedMatching MONDO:0700299 ACTH-independent macronodular adrenal hyperplasia 3 skos:exactMatch MEDGEN:1875015 semapv:UnspecifiedMatching MONDO:0700299 ACTH-independent macronodular adrenal hyperplasia 3 skos:exactMatch OMIM:620990 acth-independent macronodular adrenal hyperplasia 3 semapv:UnspecifiedMatching MONDO:0700299 ACTH-independent macronodular adrenal hyperplasia 3 skos:exactMatch UMLS:C5975485 semapv:UnspecifiedMatching MONDO:0700300 achalasia-progeroid syndrome skos:exactMatch MEDGEN:1876522 semapv:UnspecifiedMatching MONDO:0700300 achalasia-progeroid syndrome skos:exactMatch OMIM:621123 achalasia-progeroid syndrome semapv:UnspecifiedMatching MONDO:0700300 achalasia-progeroid syndrome skos:exactMatch UMLS:C6012702 semapv:UnspecifiedMatching MONDO:0700301 Fischer-Zirnsak progeroid syndrome skos:exactMatch MEDGEN:1876447 semapv:UnspecifiedMatching MONDO:0700301 Fischer-Zirnsak progeroid syndrome skos:exactMatch OMIM:621130 fischer-zirnsak progeroid syndrome semapv:UnspecifiedMatching MONDO:0700301 Fischer-Zirnsak progeroid syndrome skos:exactMatch UMLS:C6012706 semapv:UnspecifiedMatching MONDO:0700303 Erb palsy skos:exactMatch ICD10CM:P14.0 Erb's paralysis due to birth injury semapv:UnspecifiedMatching MONDO:0700303 Erb palsy skos:exactMatch MEDGEN:78746 semapv:UnspecifiedMatching MONDO:0700303 Erb palsy skos:exactMatch SCTID:78141002 semapv:UnspecifiedMatching MONDO:0700303 Erb palsy skos:exactMatch UMLS:C0270897 semapv:UnspecifiedMatching MONDO:0700307 spastic paraplegia 30A, autosomal dominant skos:exactMatch DOID:0070647 hereditary spastic paraplegia 30A semapv:UnspecifiedMatching MONDO:0700307 spastic paraplegia 30A, autosomal dominant skos:exactMatch OMIM:610357 spastic paraplegia 30a, autosomal dominant semapv:UnspecifiedMatching MONDO:0700309 spastic paraplegia 18b, autosomal recessive skos:exactMatch DOID:0070641 hereditary spastic paraplegia 18B semapv:UnspecifiedMatching MONDO:0700309 spastic paraplegia 18b, autosomal recessive skos:exactMatch OMIM:611225 spastic paraplegia 18b, autosomal recessive semapv:UnspecifiedMatching MONDO:0700322 tinnitus skos:exactMatch ICD10CM:H93.1 Tinnitus semapv:UnspecifiedMatching MONDO:0700325 Parkes Weber syndrome skos:exactMatch Orphanet:90307 Parkes Weber syndrome semapv:UnspecifiedMatching MONDO:0700335 familial isolated dilated cardiomyopathy skos:exactMatch MEDGEN:1826005 semapv:UnspecifiedMatching MONDO:0700335 familial isolated dilated cardiomyopathy skos:exactMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:UnspecifiedMatching MONDO:0700335 familial isolated dilated cardiomyopathy skos:exactMatch UMLS:C5679590 semapv:UnspecifiedMatching MONDO:0700335 familial isolated dilated cardiomyopathy skos:exactMatch icd11.foundation:949016860 Familial isolated dilated cardiomyopathy semapv:UnspecifiedMatching MONDO:0700336 peritoneal carcinomatosis skos:exactMatch MEDGEN:577752 semapv:UnspecifiedMatching MONDO:0700336 peritoneal carcinomatosis skos:exactMatch NCIT:C27382 Peritoneal Carcinomatosis semapv:UnspecifiedMatching MONDO:0700336 peritoneal carcinomatosis skos:exactMatch UMLS:C0346990 semapv:UnspecifiedMatching MONDO:0700336 peritoneal carcinomatosis skos:exactMatch icd11.foundation:1523083931 Malignant neoplasm metastasis in peritoneum semapv:UnspecifiedMatching MONDO:0700338 autoinflammation, panniculitis, and dermatosis syndrome, autosomal dominant skos:exactMatch DOID:0061169 autosomal dominant autoinflammation, panniculitis, and dermatosis syndrome semapv:UnspecifiedMatching MONDO:0700338 autoinflammation, panniculitis, and dermatosis syndrome, autosomal dominant skos:exactMatch MEDGEN:1875068 semapv:UnspecifiedMatching MONDO:0700338 autoinflammation, panniculitis, and dermatosis syndrome, autosomal dominant skos:exactMatch OMIM:621030 autoinflammation, panniculitis, and dermatosis syndrome, autosomal dominant semapv:UnspecifiedMatching MONDO:0700338 autoinflammation, panniculitis, and dermatosis syndrome, autosomal dominant skos:exactMatch UMLS:C5975538 semapv:UnspecifiedMatching MONDO:0700340 congenital megaprepuce skos:exactMatch MEDGEN:940198 semapv:UnspecifiedMatching MONDO:0700340 congenital megaprepuce skos:exactMatch Orphanet:696897 Congenital megaprepuce semapv:UnspecifiedMatching MONDO:0700340 congenital megaprepuce skos:exactMatch UMLS:C4316485 semapv:UnspecifiedMatching MONDO:0700341 monilethrix-2 skos:exactMatch DOID:0061152 monilethrix 2 semapv:UnspecifiedMatching MONDO:0700341 monilethrix-2 skos:exactMatch MEDGEN:1876490 semapv:UnspecifiedMatching MONDO:0700341 monilethrix-2 skos:exactMatch OMIM:621169 monilethrix 2 semapv:UnspecifiedMatching MONDO:0700341 monilethrix-2 skos:exactMatch UMLS:C6012713 semapv:UnspecifiedMatching MONDO:0700342 monilethrix-3 skos:exactMatch DOID:0061153 monilethrix 3 semapv:UnspecifiedMatching MONDO:0700342 monilethrix-3 skos:exactMatch MEDGEN:1876497 semapv:UnspecifiedMatching MONDO:0700342 monilethrix-3 skos:exactMatch OMIM:621170 monilethrix 3 semapv:UnspecifiedMatching MONDO:0700342 monilethrix-3 skos:exactMatch UMLS:C6012714 semapv:UnspecifiedMatching MONDO:0700343 monilethrix-1 skos:exactMatch DOID:0061145 monilethrix 1 semapv:UnspecifiedMatching MONDO:0700343 monilethrix-1 skos:exactMatch MEDGEN:1876529 semapv:UnspecifiedMatching MONDO:0700343 monilethrix-1 skos:exactMatch OMIM:158000 monilethrix 1 semapv:UnspecifiedMatching MONDO:0700343 monilethrix-1 skos:exactMatch UMLS:C6012688 semapv:UnspecifiedMatching MONDO:0700351 argyrophilic grain disease skos:exactMatch MEDGEN:572581 semapv:UnspecifiedMatching MONDO:0700351 argyrophilic grain disease skos:exactMatch UMLS:C0338460 semapv:UnspecifiedMatching MONDO:0700371 severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency skos:exactMatch MEDGEN:1658790 semapv:UnspecifiedMatching MONDO:0700371 severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency skos:exactMatch Orphanet:397593 Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency semapv:UnspecifiedMatching MONDO:0700371 severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency skos:exactMatch UMLS:C4750855 semapv:UnspecifiedMatching MONDO:0700381 macular dystrophy, retinal, 5 skos:exactMatch MEDGEN:1840630 semapv:UnspecifiedMatching MONDO:0700381 macular dystrophy, retinal, 5 skos:exactMatch UMLS:C5829994 semapv:UnspecifiedMatching MONDO:0700384 porphyria, acute intermittent, nonerythroid variant skos:exactMatch MEDGEN:357392 semapv:UnspecifiedMatching MONDO:0700384 porphyria, acute intermittent, nonerythroid variant skos:exactMatch UMLS:C1867969 semapv:UnspecifiedMatching MONDO:0700385 Camurati-Engelmann disease type 1 skos:exactMatch DOID:0061229 semapv:UnspecifiedMatching MONDO:0700385 Camurati-Engelmann disease type 1 skos:exactMatch OMIM:131300 camurati-engelmann disease 1 semapv:UnspecifiedMatching MONDO:0700386 enhanced S-cone syndrome 2 skos:exactMatch DOID:0061232 semapv:UnspecifiedMatching MONDO:0700386 enhanced S-cone syndrome 2 skos:exactMatch OMIM:621371 enhanced s-cone syndrome 2 semapv:UnspecifiedMatching MONDO:0700387 dentin dysplasia, type IB skos:exactMatch OMIM:621440 dentin dysplasia, type 1b semapv:UnspecifiedMatching MONDO:0700388 cardiac conduction disease with or without dilated cardiomyopathy 1 skos:exactMatch OMIM:616117 cardiac conduction disease with or without cardiomyopathy 1 semapv:UnspecifiedMatching MONDO:0700389 cardiac conduction disease with or without cardiomyopathy 2 skos:exactMatch OMIM:621367 cardiac conduction disease with or without cardiomyopathy 2 semapv:UnspecifiedMatching MONDO:0700390 follicular lymphoma, susceptibility to, 2 skos:exactMatch OMIM:621230 follicular lymphoma, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0700391 autoinflammation and autoimmunity with immune dysregulation 1 skos:exactMatch OMIM:616414 autoinflammation and autoimmunity, systemic, with immune dysregulation 1 semapv:UnspecifiedMatching MONDO:0700392 autoinflammation and autoimmunity with immune dysregulation 2 skos:exactMatch OMIM:621409 autoinflammation and autoimmunity, systemic, with immune dysregulation 2 semapv:UnspecifiedMatching MONDO:0700393 idiopathic triglyceride deposit cardiomyovasculopathy skos:exactMatch Orphanet:692296 Idiopathic triglyceride deposit cardiomyovasculopathy semapv:UnspecifiedMatching MONDO:0700415 non-paraneoplastic sensory ganglionopathy skos:exactMatch MEDGEN:1843264 semapv:UnspecifiedMatching MONDO:0700415 non-paraneoplastic sensory ganglionopathy skos:exactMatch Orphanet:208989 Non-paraneoplastic sensory ganglionopathy semapv:UnspecifiedMatching MONDO:0700415 non-paraneoplastic sensory ganglionopathy skos:exactMatch UMLS:C5679793 semapv:UnspecifiedMatching MONDO:0700416 paraneoplastic sensory ganglionopathy skos:exactMatch MEDGEN:1842406 semapv:UnspecifiedMatching MONDO:0700416 paraneoplastic sensory ganglionopathy skos:exactMatch Orphanet:208999 Paraneoplastic sensory ganglionopathy semapv:UnspecifiedMatching MONDO:0700416 paraneoplastic sensory ganglionopathy skos:exactMatch UMLS:C5679792 semapv:UnspecifiedMatching MONDO:0700418 idiopathic hypercalciuria skos:exactMatch MEDGEN:1433919 semapv:UnspecifiedMatching MONDO:0700418 idiopathic hypercalciuria skos:exactMatch Orphanet:2197 Idiopathic hypercalciuria semapv:UnspecifiedMatching MONDO:0700418 idiopathic hypercalciuria skos:exactMatch UMLS:C0543800 semapv:UnspecifiedMatching MONDO:0700419 semilobar holoprosencephaly skos:exactMatch MEDGEN:199694 semapv:UnspecifiedMatching MONDO:0700419 semilobar holoprosencephaly skos:exactMatch Orphanet:220386 Semilobar holoprosencephaly semapv:UnspecifiedMatching MONDO:0700419 semilobar holoprosencephaly skos:exactMatch UMLS:C0751617 semapv:UnspecifiedMatching MONDO:0700424 prenatal benign hypophosphatasia skos:exactMatch MEDGEN:1842672 semapv:UnspecifiedMatching MONDO:0700424 prenatal benign hypophosphatasia skos:exactMatch Orphanet:247638 Prenatal benign hypophosphatasia semapv:UnspecifiedMatching MONDO:0700424 prenatal benign hypophosphatasia skos:exactMatch UMLS:C5679616 semapv:UnspecifiedMatching MONDO:0700428 hypomyelination neuropathy-arthrogryposis syndrome skos:exactMatch MEDGEN:1647504 semapv:UnspecifiedMatching MONDO:0700428 hypomyelination neuropathy-arthrogryposis syndrome skos:exactMatch Orphanet:2680 Hypomyelination neuropathy-arthrogryposis syndrome semapv:UnspecifiedMatching MONDO:0700428 hypomyelination neuropathy-arthrogryposis syndrome skos:exactMatch UMLS:C4707882 semapv:UnspecifiedMatching MONDO:0700447 anterior urethral valve skos:exactMatch MEDGEN:609136 semapv:UnspecifiedMatching MONDO:0700447 anterior urethral valve skos:exactMatch Orphanet:435372 Anterior urethral valve semapv:UnspecifiedMatching MONDO:0700447 anterior urethral valve skos:exactMatch UMLS:C0431755 semapv:UnspecifiedMatching MONDO:0700463 congenital trochlear nerve palsy skos:exactMatch MEDGEN:1810147 semapv:UnspecifiedMatching MONDO:0700463 congenital trochlear nerve palsy skos:exactMatch Orphanet:98686 Congenital trochlear nerve palsy semapv:UnspecifiedMatching MONDO:0700463 congenital trochlear nerve palsy skos:exactMatch UMLS:C5680340 semapv:UnspecifiedMatching MONDO:0700466 presynaptic congenital myasthenic syndrome skos:exactMatch MEDGEN:155651 semapv:UnspecifiedMatching MONDO:0700466 presynaptic congenital myasthenic syndrome skos:exactMatch Orphanet:98914 Presynaptic congenital myasthenic syndromes semapv:UnspecifiedMatching MONDO:0700466 presynaptic congenital myasthenic syndrome skos:exactMatch UMLS:C0751884 semapv:UnspecifiedMatching MONDO:0700478 resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta skos:exactMatch Orphanet:566243 Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta semapv:UnspecifiedMatching MONDO:0700479 mirror-image polydactyly skos:exactMatch MEDGEN:1814580 semapv:UnspecifiedMatching MONDO:0700479 mirror-image polydactyly skos:exactMatch Orphanet:498494 Mirror-image polydactyly semapv:UnspecifiedMatching MONDO:0700479 mirror-image polydactyly skos:exactMatch UMLS:C5700308 semapv:UnspecifiedMatching MONDO:0700513 apolipoprotein A-I deficiency skos:exactMatch MEDGEN:137983 semapv:UnspecifiedMatching MONDO:0700513 apolipoprotein A-I deficiency skos:exactMatch Orphanet:425 Apolipoprotein A-I deficiency semapv:UnspecifiedMatching MONDO:0700513 apolipoprotein A-I deficiency skos:exactMatch UMLS:C0342898 semapv:UnspecifiedMatching MONDO:0800001 delayed sleep phase syndrome, susceptibility to skos:exactMatch MEDGEN:481621 semapv:UnspecifiedMatching MONDO:0800001 delayed sleep phase syndrome, susceptibility to skos:exactMatch OMIM:614163 delayed sleep phase disorder, susceptibility to semapv:UnspecifiedMatching MONDO:0800001 delayed sleep phase syndrome, susceptibility to skos:exactMatch UMLS:C3279991 semapv:UnspecifiedMatching MONDO:0800025 Teebi hypertelorism syndrome 1 skos:exactMatch DOID:0080698 Teebi hypertelorism syndrome 1 semapv:UnspecifiedMatching MONDO:0800025 Teebi hypertelorism syndrome 1 skos:exactMatch OMIM:145420 teebi hypertelorism syndrome 1 semapv:UnspecifiedMatching MONDO:0800025 Teebi hypertelorism syndrome 1 skos:exactMatch Orphanet:1519 SPECC1L-related hypertelorism syndrome semapv:UnspecifiedMatching MONDO:0800025 Teebi hypertelorism syndrome 1 skos:exactMatch SCTID:724284005 semapv:UnspecifiedMatching MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease skos:exactMatch DOID:0060731 congenital central hypoventilation syndrome semapv:UnspecifiedMatching MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease skos:exactMatch MEDGEN:1794285 semapv:UnspecifiedMatching MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease skos:exactMatch NCIT:C98889 Congenital Central Hypoventilation semapv:UnspecifiedMatching MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease skos:exactMatch OMIM:209880 central hypoventilation syndrome, congenital, 1 semapv:UnspecifiedMatching MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease skos:exactMatch Orphanet:661 Congenital central hypoventilation syndrome semapv:UnspecifiedMatching MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease skos:exactMatch SCTID:230499002 semapv:UnspecifiedMatching MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease skos:exactMatch UMLS:C5562075 semapv:UnspecifiedMatching MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease skos:exactMatch icd11.foundation:1750742010 Congenital central alveolar sleep-related hypoventilation semapv:UnspecifiedMatching MONDO:0800027 leukoencephalopathy, diffuse hereditary, with spheroids 1 skos:exactMatch DOID:0080523 adult-onset leukoencephalopathy with axonal spheroids and pigmented glia semapv:UnspecifiedMatching MONDO:0800027 leukoencephalopathy, diffuse hereditary, with spheroids 1 skos:exactMatch MEDGEN:1794139 semapv:UnspecifiedMatching MONDO:0800027 leukoencephalopathy, diffuse hereditary, with spheroids 1 skos:exactMatch NCIT:C153289 Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia semapv:UnspecifiedMatching MONDO:0800027 leukoencephalopathy, diffuse hereditary, with spheroids 1 skos:exactMatch OMIM:221820 leukoencephalopathy, hereditary diffuse, with spheroids 1 semapv:UnspecifiedMatching MONDO:0800027 leukoencephalopathy, diffuse hereditary, with spheroids 1 skos:exactMatch Orphanet:313808 Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia semapv:UnspecifiedMatching MONDO:0800027 leukoencephalopathy, diffuse hereditary, with spheroids 1 skos:exactMatch SCTID:702427005 semapv:UnspecifiedMatching MONDO:0800027 leukoencephalopathy, diffuse hereditary, with spheroids 1 skos:exactMatch UMLS:C5561929 semapv:UnspecifiedMatching MONDO:0800027 leukoencephalopathy, diffuse hereditary, with spheroids 1 skos:exactMatch mesh:C580150 semapv:UnspecifiedMatching MONDO:0800028 dyskinesia with orofacial involvement, autosomal dominant skos:exactMatch MEDGEN:338280 semapv:UnspecifiedMatching MONDO:0800028 dyskinesia with orofacial involvement, autosomal dominant skos:exactMatch OMIM:606703 dyskinesia with orofacial involvement, autosomal dominant semapv:UnspecifiedMatching MONDO:0800028 dyskinesia with orofacial involvement, autosomal dominant skos:exactMatch Orphanet:324588 Familial dyskinesia and facial myokymia semapv:UnspecifiedMatching MONDO:0800028 dyskinesia with orofacial involvement, autosomal dominant skos:exactMatch SCTID:763352005 semapv:UnspecifiedMatching MONDO:0800028 dyskinesia with orofacial involvement, autosomal dominant skos:exactMatch UMLS:C1847627 semapv:UnspecifiedMatching MONDO:0800028 dyskinesia with orofacial involvement, autosomal dominant skos:exactMatch mesh:C564676 semapv:UnspecifiedMatching MONDO:0800030 gastrointestinal defects and immunodeficiency syndrome 1 skos:exactMatch DOID:14671 multiple intestinal atresia semapv:UnspecifiedMatching MONDO:0800030 gastrointestinal defects and immunodeficiency syndrome 1 skos:exactMatch MEDGEN:1872649 semapv:UnspecifiedMatching MONDO:0800030 gastrointestinal defects and immunodeficiency syndrome 1 skos:exactMatch OMIM:243150 gastrointestinal defects and immunodeficiency syndrome 1 semapv:UnspecifiedMatching MONDO:0800030 gastrointestinal defects and immunodeficiency syndrome 1 skos:exactMatch UMLS:C5968858 semapv:UnspecifiedMatching MONDO:0800031 central hypoventilation syndrome, congenital skos:exactMatch MEDGEN:220902 semapv:UnspecifiedMatching MONDO:0800031 central hypoventilation syndrome, congenital skos:exactMatch OMIMPS:209880 Central hypoventilation syndrome, congenital semapv:UnspecifiedMatching MONDO:0800031 central hypoventilation syndrome, congenital skos:exactMatch UMLS:C1275808 semapv:UnspecifiedMatching MONDO:0800042 restrictive dermopathy 1 skos:exactMatch DOID:0070369 restrictive dermopathy 1 semapv:UnspecifiedMatching MONDO:0800042 restrictive dermopathy 1 skos:exactMatch MEDGEN:1812447 semapv:UnspecifiedMatching MONDO:0800042 restrictive dermopathy 1 skos:exactMatch OMIM:275210 restrictive dermopathy 1 semapv:UnspecifiedMatching MONDO:0800042 restrictive dermopathy 1 skos:exactMatch SCTID:400128006 semapv:UnspecifiedMatching MONDO:0800042 restrictive dermopathy 1 skos:exactMatch UMLS:C5676878 semapv:UnspecifiedMatching MONDO:0800042 restrictive dermopathy 1 skos:exactMatch mesh:C536920 semapv:UnspecifiedMatching MONDO:0800043 Stüve-Wiedemann syndrome 1 skos:exactMatch MEDGEN:1803541 semapv:UnspecifiedMatching MONDO:0800043 Stüve-Wiedemann syndrome 1 skos:exactMatch OMIM:601559 stuve-wiedemann syndrome 1 semapv:UnspecifiedMatching MONDO:0800043 Stüve-Wiedemann syndrome 1 skos:exactMatch Orphanet:3206 Stüve-Wiedemann syndrome semapv:UnspecifiedMatching MONDO:0800043 Stüve-Wiedemann syndrome 1 skos:exactMatch SCTID:254097005 semapv:UnspecifiedMatching MONDO:0800043 Stüve-Wiedemann syndrome 1 skos:exactMatch UMLS:C5676888 semapv:UnspecifiedMatching MONDO:0800043 Stüve-Wiedemann syndrome 1 skos:exactMatch mesh:C537502 semapv:UnspecifiedMatching MONDO:0800044 congenital disorder of deglycosylation 1 skos:exactMatch DOID:0060728 congenital disorder of deglycosylation 1 semapv:UnspecifiedMatching MONDO:0800044 congenital disorder of deglycosylation 1 skos:exactMatch NCIT:C126746 Congenital Disorder of Deglycosylation semapv:UnspecifiedMatching MONDO:0800044 congenital disorder of deglycosylation 1 skos:exactMatch OMIM:615273 congenital disorder of deglycosylation 1 semapv:UnspecifiedMatching MONDO:0800044 congenital disorder of deglycosylation 1 skos:exactMatch Orphanet:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome semapv:UnspecifiedMatching MONDO:0800044 congenital disorder of deglycosylation 1 skos:exactMatch SCTID:768846004 semapv:UnspecifiedMatching MONDO:0800045 autoinflammatory syndrome, familial, Behcet-like 1 skos:exactMatch DOID:0080944 familial Behcet-like autoinflammatory syndrome semapv:UnspecifiedMatching MONDO:0800045 autoinflammatory syndrome, familial, Behcet-like 1 skos:exactMatch MEDGEN:898541 semapv:UnspecifiedMatching MONDO:0800045 autoinflammatory syndrome, familial, Behcet-like 1 skos:exactMatch OMIM:616744 autoinflammatory syndrome, familial, behcet-like 1 semapv:UnspecifiedMatching MONDO:0800045 autoinflammatory syndrome, familial, Behcet-like 1 skos:exactMatch Orphanet:674762 Early-onset autoinflammatory syndrome due to A20 haploinsufficiency semapv:UnspecifiedMatching MONDO:0800045 autoinflammatory syndrome, familial, Behcet-like 1 skos:exactMatch UMLS:C4225218 semapv:UnspecifiedMatching MONDO:0800046 thyroid hormone metabolism, abnormal 1 skos:exactMatch MEDGEN:1801974 semapv:UnspecifiedMatching MONDO:0800046 thyroid hormone metabolism, abnormal 1 skos:exactMatch OMIM:609698 thyroid hormone metabolism, abnormal, 1 semapv:UnspecifiedMatching MONDO:0800046 thyroid hormone metabolism, abnormal 1 skos:exactMatch Orphanet:171706 Short stature-delayed bone age due to thyroid hormone metabolism deficiency semapv:UnspecifiedMatching MONDO:0800046 thyroid hormone metabolism, abnormal 1 skos:exactMatch UMLS:C5676891 semapv:UnspecifiedMatching MONDO:0800046 thyroid hormone metabolism, abnormal 1 skos:exactMatch mesh:C566454 semapv:UnspecifiedMatching MONDO:0800047 macrothrombocytopenia, isolated, 1, autosomal dominant skos:exactMatch DOID:0090102 autosomal dominant isolated macrothrombocytopenia 1 semapv:UnspecifiedMatching MONDO:0800047 macrothrombocytopenia, isolated, 1, autosomal dominant skos:exactMatch MEDGEN:1811721 semapv:UnspecifiedMatching MONDO:0800047 macrothrombocytopenia, isolated, 1, autosomal dominant skos:exactMatch OMIM:613112 macrothrombocytopenia, isolated, 1, autosomal dominant semapv:UnspecifiedMatching MONDO:0800047 macrothrombocytopenia, isolated, 1, autosomal dominant skos:exactMatch UMLS:C5676892 semapv:UnspecifiedMatching MONDO:0800047 macrothrombocytopenia, isolated, 1, autosomal dominant skos:exactMatch mesh:C567747 semapv:UnspecifiedMatching MONDO:0800084 obsolete primary bone dysplasia with increased bone density skos:exactMatch Orphanet:93444 Primary bone dysplasia with increased bone density semapv:UnspecifiedMatching MONDO:0800085 obsolete dysostosis with predominant craniofacial involvement skos:exactMatch Orphanet:93453 Dysostosis with predominant craniofacial involvement semapv:UnspecifiedMatching MONDO:0800085 obsolete dysostosis with predominant craniofacial involvement skos:exactMatch icd11.foundation:2114373392 Craniofacial dysostoses semapv:UnspecifiedMatching MONDO:0800086 obsolete primary bone dysplasia with multiple joint dislocations skos:exactMatch Orphanet:93441 Primary bone dysplasia with multiple joint dislocations semapv:UnspecifiedMatching MONDO:0800086 obsolete primary bone dysplasia with multiple joint dislocations skos:exactMatch icd11.foundation:689620137 Bone dysplasias with multiple joint dislocations semapv:UnspecifiedMatching MONDO:0800087 obsolete type 11 collagen-related bone disorder skos:exactMatch Orphanet:93422 Type 11 collagen-related bone disorder semapv:UnspecifiedMatching MONDO:0800088 lysosomal storage disease with skeletal involvement skos:exactMatch Orphanet:93448 Lysosomal storage disease with skeletal involvement semapv:UnspecifiedMatching MONDO:0800088 lysosomal storage disease with skeletal involvement skos:exactMatch SCTID:254069004 semapv:UnspecifiedMatching MONDO:0800088 lysosomal storage disease with skeletal involvement skos:exactMatch SCTID:279081001 semapv:UnspecifiedMatching MONDO:0800089 obsolete primary bone dysplasia with disorganized development of skeletal components skos:exactMatch Orphanet:93450 Primary bone dysplasia with disorganized development of skeletal components semapv:UnspecifiedMatching MONDO:0800090 obsolete ectrodactyly with and without other manifestations skos:exactMatch Orphanet:498477 Ectrodactyly with and without other manifestations semapv:UnspecifiedMatching MONDO:0800091 obsolete overgrowth or tall stature syndrome with skeletal involvement skos:exactMatch Orphanet:498448 Overgrowth or tall stature syndrome with skeletal involvement semapv:UnspecifiedMatching MONDO:0800092 obsolete hereditary inflammatory or rheumatoid-like osteoarthropathy skos:exactMatch Orphanet:498445 Genetic inflammatory or rheumatoid-like osteoarthropathy semapv:UnspecifiedMatching MONDO:0800093 obsolete dysostosis with brachydactyly without extraskeletal manifestations skos:exactMatch Orphanet:498451 Dysostosis with brachydactyly without extraskeletal manifestations semapv:UnspecifiedMatching MONDO:0800094 obsolete dysostosis with brachydactyly with extraskeletal manifestations skos:exactMatch Orphanet:498454 Dysostosis with brachydactyly with extraskeletal manifestations semapv:UnspecifiedMatching MONDO:0800095 obsolete syndrome with synostosis or other joint formation defect skos:exactMatch Orphanet:93459 Syndrome with synostosis or other joint formation defect semapv:UnspecifiedMatching MONDO:0800103 COACH syndrome 1 skos:exactMatch MEDGEN:1769861 semapv:UnspecifiedMatching MONDO:0800103 COACH syndrome 1 skos:exactMatch OMIM:216360 coach syndrome 1 semapv:UnspecifiedMatching MONDO:0800103 COACH syndrome 1 skos:exactMatch UMLS:C5435651 semapv:UnspecifiedMatching MONDO:0800104 immunodeficiency 105 skos:exactMatch DOID:0061074 severe combined immunodeficiency 105 semapv:UnspecifiedMatching MONDO:0800104 immunodeficiency 105 skos:exactMatch MEDGEN:1809425 semapv:UnspecifiedMatching MONDO:0800104 immunodeficiency 105 skos:exactMatch OMIM:619924 immunodeficiency 105, severe combined semapv:UnspecifiedMatching MONDO:0800104 immunodeficiency 105 skos:exactMatch UMLS:C5677005 semapv:UnspecifiedMatching MONDO:0800105 catatonia skos:exactMatch MEDGEN:2904 semapv:UnspecifiedMatching MONDO:0800105 catatonia skos:exactMatch UMLS:C0007398 semapv:UnspecifiedMatching MONDO:0800105 catatonia skos:exactMatch icd11.foundation:486722075 Catatonia semapv:UnspecifiedMatching MONDO:0800105 catatonia skos:exactMatch mesh:D002389 semapv:UnspecifiedMatching MONDO:0800106 disruptive behavior disorder skos:exactMatch MEDGEN:41619 semapv:UnspecifiedMatching MONDO:0800106 disruptive behavior disorder skos:exactMatch NCIT:C99753 Disruptive Behavior Disorder semapv:UnspecifiedMatching MONDO:0800106 disruptive behavior disorder skos:exactMatch UMLS:C0012734 semapv:UnspecifiedMatching MONDO:0800107 anterior deviation infundibular septum skos:exactMatch MEDGEN:756812 semapv:UnspecifiedMatching MONDO:0800107 anterior deviation infundibular septum skos:exactMatch SCTID:448619007 semapv:UnspecifiedMatching MONDO:0800107 anterior deviation infundibular septum skos:exactMatch UMLS:C3164404 semapv:UnspecifiedMatching MONDO:0800108 cleft leaflet of tricuspid valve skos:exactMatch MEDGEN:576470 semapv:UnspecifiedMatching MONDO:0800108 cleft leaflet of tricuspid valve skos:exactMatch SCTID:60232001 semapv:UnspecifiedMatching MONDO:0800108 cleft leaflet of tricuspid valve skos:exactMatch UMLS:C0344747 semapv:UnspecifiedMatching MONDO:0800113 necrotizing vasculitis skos:exactMatch MEDGEN:230813 semapv:UnspecifiedMatching MONDO:0800113 necrotizing vasculitis skos:exactMatch NCIT:C70635 Necrotizing Vasculitis semapv:UnspecifiedMatching MONDO:0800113 necrotizing vasculitis skos:exactMatch UMLS:C1318520 semapv:UnspecifiedMatching MONDO:0800117 cutaneous botryomycosis skos:exactMatch MEDGEN:640409 semapv:UnspecifiedMatching MONDO:0800117 cutaneous botryomycosis skos:exactMatch UMLS:C0554463 semapv:UnspecifiedMatching MONDO:0800117 cutaneous botryomycosis skos:exactMatch icd11.foundation:1888048529 Cutaneous botryomycosis semapv:UnspecifiedMatching MONDO:0800119 postinfectious bronchiolitis obliterans skos:exactMatch MEDGEN:1840786 semapv:UnspecifiedMatching MONDO:0800119 postinfectious bronchiolitis obliterans skos:exactMatch UMLS:C5830150 semapv:UnspecifiedMatching MONDO:0800127 pulmonary amyloidosis skos:exactMatch MEDGEN:675153 semapv:UnspecifiedMatching MONDO:0800127 pulmonary amyloidosis skos:exactMatch UMLS:C0700376 semapv:UnspecifiedMatching MONDO:0800129 autoinflammatory disease, X-linked skos:exactMatch MEDGEN:1811268 semapv:UnspecifiedMatching MONDO:0800129 autoinflammatory disease, X-linked skos:exactMatch OMIM:301081 autoinflammatory disease, systemic, X-linked semapv:UnspecifiedMatching MONDO:0800129 autoinflammatory disease, X-linked skos:exactMatch Orphanet:699605 NEMO deleted exon 5 autoinflammatory syndrome semapv:UnspecifiedMatching MONDO:0800129 autoinflammatory disease, X-linked skos:exactMatch UMLS:C5676885 semapv:UnspecifiedMatching MONDO:0800130 autoinflammatory syndrome with immunodeficiency skos:exactMatch MEDGEN:1784363 semapv:UnspecifiedMatching MONDO:0800130 autoinflammatory syndrome with immunodeficiency skos:exactMatch OMIM:619375 autoinflammatory syndrome, familial, with or without immunodeficiency semapv:UnspecifiedMatching MONDO:0800130 autoinflammatory syndrome with immunodeficiency skos:exactMatch UMLS:C5543547 semapv:UnspecifiedMatching MONDO:0800131 hyper-IgE recurrent infection syndrome 4A, autosomal dominant skos:exactMatch MEDGEN:1809613 semapv:UnspecifiedMatching MONDO:0800131 hyper-IgE recurrent infection syndrome 4A, autosomal dominant skos:exactMatch OMIM:619752 hyper-ige syndrome 4a, autosomal dominant, with recurrent infections semapv:UnspecifiedMatching MONDO:0800131 hyper-IgE recurrent infection syndrome 4A, autosomal dominant skos:exactMatch UMLS:C5676920 semapv:UnspecifiedMatching MONDO:0800132 autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency skos:exactMatch MEDGEN:1803642 semapv:UnspecifiedMatching MONDO:0800132 autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency skos:exactMatch OMIM:619858 autoinflammatory-pancytopenia syndrome semapv:UnspecifiedMatching MONDO:0800132 autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency skos:exactMatch UMLS:C5676977 semapv:UnspecifiedMatching MONDO:0800133 pulmonary hypoplasia skos:exactMatch MEDGEN:78574 semapv:UnspecifiedMatching MONDO:0800133 pulmonary hypoplasia skos:exactMatch NCIT:C99035 Pulmonary Hypoplasia semapv:UnspecifiedMatching MONDO:0800133 pulmonary hypoplasia skos:exactMatch UMLS:C0265783 semapv:UnspecifiedMatching MONDO:0800139 HELIOS deficiency skos:exactMatch Orphanet:697389 Combined immunodeficiency due to HELIOS deficiency semapv:UnspecifiedMatching MONDO:0800166 Knobloch syndrome skos:exactMatch MEDGEN:336594 semapv:UnspecifiedMatching MONDO:0800166 Knobloch syndrome skos:exactMatch OMIMPS:267750 Knobloch syndrome semapv:UnspecifiedMatching MONDO:0800166 Knobloch syndrome skos:exactMatch UMLS:C1849409 semapv:UnspecifiedMatching MONDO:0800166 Knobloch syndrome skos:exactMatch icd11.foundation:1664056510 Knobloch syndrome semapv:UnspecifiedMatching MONDO:0800167 Knobloch syndrome 1 skos:exactMatch MEDGEN:1642123 semapv:UnspecifiedMatching MONDO:0800167 Knobloch syndrome 1 skos:exactMatch OMIM:267750 knobloch syndrome 1 semapv:UnspecifiedMatching MONDO:0800167 Knobloch syndrome 1 skos:exactMatch Orphanet:1571 Knobloch syndrome semapv:UnspecifiedMatching MONDO:0800167 Knobloch syndrome 1 skos:exactMatch SCTID:703542000 semapv:UnspecifiedMatching MONDO:0800167 Knobloch syndrome 1 skos:exactMatch UMLS:C4551775 semapv:UnspecifiedMatching MONDO:0800167 Knobloch syndrome 1 skos:exactMatch mesh:C537209 semapv:UnspecifiedMatching MONDO:0800175 cardiogenic shock skos:exactMatch ICD10CM:R57.0 Cardiogenic shock semapv:UnspecifiedMatching MONDO:0800175 cardiogenic shock skos:exactMatch MEDGEN:48650 semapv:UnspecifiedMatching MONDO:0800175 cardiogenic shock skos:exactMatch Orphanet:97292 Cardiogenic shock semapv:UnspecifiedMatching MONDO:0800175 cardiogenic shock skos:exactMatch UMLS:C0036980 semapv:UnspecifiedMatching MONDO:0800175 cardiogenic shock skos:exactMatch icd11.foundation:1974956233 Cardiogenic shock semapv:UnspecifiedMatching MONDO:0800176 black widow spider envenomation skos:exactMatch SCTID:217666004 semapv:UnspecifiedMatching MONDO:0800177 frostbite skos:exactMatch ICD10CM:T33-T34 Frostbite (T33-T34) semapv:UnspecifiedMatching MONDO:0800177 frostbite skos:exactMatch ICD10WHO:T33-T35 Frostbite semapv:UnspecifiedMatching MONDO:0800177 frostbite skos:exactMatch NCIT:C34627 Frostbite semapv:UnspecifiedMatching MONDO:0800177 frostbite skos:exactMatch SCTID:370977006 semapv:UnspecifiedMatching MONDO:0800177 frostbite skos:exactMatch icd11.foundation:152692065 Frostbite semapv:UnspecifiedMatching MONDO:0800187 immunodeficiency 83, susceptibility to viral infections skos:exactMatch MEDGEN:416638 semapv:UnspecifiedMatching MONDO:0800187 immunodeficiency 83, susceptibility to viral infections skos:exactMatch OMIM:613002 immunodeficiency 83, susceptibility to viral infections semapv:UnspecifiedMatching MONDO:0800187 immunodeficiency 83, susceptibility to viral infections skos:exactMatch UMLS:C2751803 semapv:UnspecifiedMatching MONDO:0800188 malignant hyperthermia, susceptibility to skos:exactMatch MEDGEN:1728755 semapv:UnspecifiedMatching MONDO:0800188 malignant hyperthermia, susceptibility to skos:exactMatch OMIMPS:145600 Malignant hyperthermia semapv:UnspecifiedMatching MONDO:0800188 malignant hyperthermia, susceptibility to skos:exactMatch UMLS:C5437603 semapv:UnspecifiedMatching MONDO:0800196 achromatopsia 5 skos:exactMatch MEDGEN:416519 semapv:UnspecifiedMatching MONDO:0800196 achromatopsia 5 skos:exactMatch UMLS:C2751309 semapv:UnspecifiedMatching MONDO:0800198 alopecia universalis skos:exactMatch ICD10CM:L63.1 Alopecia universalis semapv:UnspecifiedMatching MONDO:0800198 alopecia universalis skos:exactMatch MEDGEN:120481 semapv:UnspecifiedMatching MONDO:0800198 alopecia universalis skos:exactMatch UMLS:C0263505 semapv:UnspecifiedMatching MONDO:0800198 alopecia universalis skos:exactMatch icd11.foundation:69070500 Alopecia universalis semapv:UnspecifiedMatching MONDO:0800200 arthrogryposis, distal, type 2B4 skos:exactMatch MEDGEN:1682592 semapv:UnspecifiedMatching MONDO:0800200 arthrogryposis, distal, type 2B4 skos:exactMatch UMLS:C5193002 semapv:UnspecifiedMatching MONDO:0800201 baldness, male pattern skos:exactMatch MEDGEN:904995 semapv:UnspecifiedMatching MONDO:0800201 baldness, male pattern skos:exactMatch UMLS:C4083212 semapv:UnspecifiedMatching MONDO:0800204 calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia skos:exactMatch MEDGEN:1674505 semapv:UnspecifiedMatching MONDO:0800204 calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia skos:exactMatch UMLS:C5193004 semapv:UnspecifiedMatching MONDO:0800206 epidermolysis bullosa dystrophica with subcorneal cleavage skos:exactMatch MEDGEN:436495 semapv:UnspecifiedMatching MONDO:0800206 epidermolysis bullosa dystrophica with subcorneal cleavage skos:exactMatch UMLS:C2675683 semapv:UnspecifiedMatching MONDO:0800207 neuropathy, small fiber skos:exactMatch MEDGEN:478336 semapv:UnspecifiedMatching MONDO:0800207 neuropathy, small fiber skos:exactMatch SCTID:709489006 semapv:UnspecifiedMatching MONDO:0800207 neuropathy, small fiber skos:exactMatch UMLS:C3276706 semapv:UnspecifiedMatching MONDO:0800209 fibrosis of extraocular muscles, congenital, 3b skos:exactMatch MEDGEN:416468 semapv:UnspecifiedMatching MONDO:0800209 fibrosis of extraocular muscles, congenital, 3b skos:exactMatch UMLS:C2751105 semapv:UnspecifiedMatching MONDO:0800215 multicentric Castleman disease, susceptibility to skos:exactMatch MEDGEN:762089 semapv:UnspecifiedMatching MONDO:0800215 multicentric Castleman disease, susceptibility to skos:exactMatch UMLS:C3541461 semapv:UnspecifiedMatching MONDO:0800224 amyotrophic lateral sclerosis, susceptibility to, 13 skos:exactMatch MEDGEN:461257 semapv:UnspecifiedMatching MONDO:0800224 amyotrophic lateral sclerosis, susceptibility to, 13 skos:exactMatch UMLS:C3149907 semapv:UnspecifiedMatching MONDO:0800226 strabismus, susceptibility to, 1 skos:exactMatch MEDGEN:350027 semapv:UnspecifiedMatching MONDO:0800226 strabismus, susceptibility to, 1 skos:exactMatch UMLS:C1861450 semapv:UnspecifiedMatching MONDO:0800250 Graves disease, susceptibility to, X-linked 2 skos:exactMatch MEDGEN:394751 semapv:UnspecifiedMatching MONDO:0800250 Graves disease, susceptibility to, X-linked 2 skos:exactMatch UMLS:C2678152 semapv:UnspecifiedMatching MONDO:0800261 autoimmune thyroid disease, susceptibility to, 5 skos:exactMatch MEDGEN:411625 semapv:UnspecifiedMatching MONDO:0800261 autoimmune thyroid disease, susceptibility to, 5 skos:exactMatch UMLS:C2748621 semapv:UnspecifiedMatching MONDO:0800268 atrioventricular septal defect, susceptibility to, 1 skos:exactMatch MEDGEN:342900 semapv:UnspecifiedMatching MONDO:0800268 atrioventricular septal defect, susceptibility to, 1 skos:exactMatch UMLS:C1853513 semapv:UnspecifiedMatching MONDO:0800271 epilepsy, juvenile myoclonic, susceptibility to, 6 skos:exactMatch MEDGEN:442587 semapv:UnspecifiedMatching MONDO:0800271 epilepsy, juvenile myoclonic, susceptibility to, 6 skos:exactMatch UMLS:C2750888 semapv:UnspecifiedMatching MONDO:0800274 autoimmune disease, susceptibility to, 5 skos:exactMatch MEDGEN:369911 semapv:UnspecifiedMatching MONDO:0800274 autoimmune disease, susceptibility to, 5 skos:exactMatch UMLS:C1969031 semapv:UnspecifiedMatching MONDO:0800275 autism, susceptibility to, 14a skos:exactMatch MEDGEN:765405 semapv:UnspecifiedMatching MONDO:0800275 autism, susceptibility to, 14a skos:exactMatch UMLS:C3552491 semapv:UnspecifiedMatching MONDO:0800279 epilepsy, idiopathic generalized, susceptibility to, 6 skos:exactMatch MEDGEN:394369 semapv:UnspecifiedMatching MONDO:0800279 epilepsy, idiopathic generalized, susceptibility to, 6 skos:exactMatch UMLS:C2677793 semapv:UnspecifiedMatching MONDO:0800287 autism, susceptibility to, 14b skos:exactMatch MEDGEN:766322 semapv:UnspecifiedMatching MONDO:0800287 autism, susceptibility to, 14b skos:exactMatch UMLS:C3553408 semapv:UnspecifiedMatching MONDO:0800290 Li-fraumeni-like syndrome skos:exactMatch MEDGEN:382523 semapv:UnspecifiedMatching MONDO:0800290 Li-fraumeni-like syndrome skos:exactMatch UMLS:C2675080 semapv:UnspecifiedMatching MONDO:0800291 crossed polydactyly, type I skos:exactMatch MEDGEN:357421 semapv:UnspecifiedMatching MONDO:0800291 crossed polydactyly, type I skos:exactMatch UMLS:C1868112 semapv:UnspecifiedMatching MONDO:0800296 microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2 skos:exactMatch MEDGEN:1763512 semapv:UnspecifiedMatching MONDO:0800296 microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2 skos:exactMatch UMLS:C5435648 semapv:UnspecifiedMatching MONDO:0800298 peroxisome biogenesis disorder, complementation group 2 skos:exactMatch MEDGEN:763188 semapv:UnspecifiedMatching MONDO:0800298 peroxisome biogenesis disorder, complementation group 2 skos:exactMatch UMLS:C3550274 semapv:UnspecifiedMatching MONDO:0800299 myopathy, congenital, with excess of muscle spindles skos:exactMatch MEDGEN:369344 semapv:UnspecifiedMatching MONDO:0800299 myopathy, congenital, with excess of muscle spindles skos:exactMatch UMLS:C1968782 semapv:UnspecifiedMatching MONDO:0800300 black locks with albinism and deafness syndrome skos:exactMatch MEDGEN:82812 semapv:UnspecifiedMatching MONDO:0800300 black locks with albinism and deafness syndrome skos:exactMatch UMLS:C0268501 semapv:UnspecifiedMatching MONDO:0800301 Friedreich ataxia with retained reflexes skos:exactMatch MEDGEN:376121 semapv:UnspecifiedMatching MONDO:0800301 Friedreich ataxia with retained reflexes skos:exactMatch UMLS:C1847416 semapv:UnspecifiedMatching MONDO:0800302 glycogen storage disease Id skos:exactMatch MEDGEN:87456 semapv:UnspecifiedMatching MONDO:0800302 glycogen storage disease Id skos:exactMatch UMLS:C0342750 semapv:UnspecifiedMatching MONDO:0800304 neuropathy, hereditary sensory and autonomic, type IId skos:exactMatch MEDGEN:860491 semapv:UnspecifiedMatching MONDO:0800304 neuropathy, hereditary sensory and autonomic, type IId skos:exactMatch UMLS:C4012054 semapv:UnspecifiedMatching MONDO:0800305 myelofibrosis with myeloid metaplasia skos:exactMatch icd11.foundation:673220507 Myelofibrosis with myeloid metaplasia semapv:UnspecifiedMatching MONDO:0800306 myoclonic epilepsy of Lafora 2 skos:exactMatch DOID:0061211 Lafora disease 2 semapv:UnspecifiedMatching MONDO:0800306 myoclonic epilepsy of Lafora 2 skos:exactMatch MEDGEN:340621 semapv:UnspecifiedMatching MONDO:0800306 myoclonic epilepsy of Lafora 2 skos:exactMatch OMIM:620681 myoclonic epilepsy of lafora 2 semapv:UnspecifiedMatching MONDO:0800306 myoclonic epilepsy of Lafora 2 skos:exactMatch UMLS:C1850764 semapv:UnspecifiedMatching MONDO:0800307 de la Chapelle dysplasia skos:exactMatch MEDGEN:342529 semapv:UnspecifiedMatching MONDO:0800307 de la Chapelle dysplasia skos:exactMatch UMLS:C1850555 semapv:UnspecifiedMatching MONDO:0800307 de la Chapelle dysplasia skos:exactMatch icd11.foundation:248590292 De la Chapelle dysplasia semapv:UnspecifiedMatching MONDO:0800308 orotic aciduria without megaloblastic anemia skos:exactMatch MEDGEN:480252 semapv:UnspecifiedMatching MONDO:0800308 orotic aciduria without megaloblastic anemia skos:exactMatch UMLS:C3278622 semapv:UnspecifiedMatching MONDO:0800310 pregnancy loss, recurrent, 4 skos:exactMatch MEDGEN:481067 semapv:UnspecifiedMatching MONDO:0800310 pregnancy loss, recurrent, 4 skos:exactMatch UMLS:C3279437 semapv:UnspecifiedMatching MONDO:0800311 vas deferens, congenital unilateral aplasia of skos:exactMatch MEDGEN:1712847 semapv:UnspecifiedMatching MONDO:0800311 vas deferens, congenital unilateral aplasia of skos:exactMatch UMLS:C5393224 semapv:UnspecifiedMatching MONDO:0800312 wooly hair, autosomal recessive 1, with or without hypotrichosis skos:exactMatch MEDGEN:341227 semapv:UnspecifiedMatching MONDO:0800312 wooly hair, autosomal recessive 1, with or without hypotrichosis skos:exactMatch UMLS:C1848435 semapv:UnspecifiedMatching MONDO:0800313 xeroderma pigmentosum, type F/Cockayne syndrome skos:exactMatch MEDGEN:812895 semapv:UnspecifiedMatching MONDO:0800313 xeroderma pigmentosum, type F/Cockayne syndrome skos:exactMatch UMLS:C3806565 semapv:UnspecifiedMatching MONDO:0800314 xeroderma pigmentosum, type G/Cockayne syndrome skos:exactMatch MEDGEN:409618 semapv:UnspecifiedMatching MONDO:0800314 xeroderma pigmentosum, type G/Cockayne syndrome skos:exactMatch UMLS:C1968561 semapv:UnspecifiedMatching MONDO:0800317 premature ovarian failure 4 skos:exactMatch MEDGEN:336904 semapv:UnspecifiedMatching MONDO:0800317 premature ovarian failure 4 skos:exactMatch UMLS:C1845295 semapv:UnspecifiedMatching MONDO:0800318 Emery-Dreifuss muscular dystrophy 6, X-linked skos:exactMatch MEDGEN:440709 semapv:UnspecifiedMatching MONDO:0800318 Emery-Dreifuss muscular dystrophy 6, X-linked skos:exactMatch UMLS:C2749106 semapv:UnspecifiedMatching MONDO:0800319 cone dystrophy 5, X-linked skos:exactMatch MEDGEN:854645 semapv:UnspecifiedMatching MONDO:0800319 cone dystrophy 5, X-linked skos:exactMatch UMLS:C3887937 semapv:UnspecifiedMatching MONDO:0800320 cone dystrophy 1, X-linked skos:exactMatch MEDGEN:336778 semapv:UnspecifiedMatching MONDO:0800320 cone dystrophy 1, X-linked skos:exactMatch UMLS:C1844777 semapv:UnspecifiedMatching MONDO:0800321 congenital heart defects, multiple types, 1, X-linked skos:exactMatch MEDGEN:463217 semapv:UnspecifiedMatching MONDO:0800321 congenital heart defects, multiple types, 1, X-linked skos:exactMatch UMLS:C3151867 semapv:UnspecifiedMatching MONDO:0800322 membranous obstruction of inferior vena cava skos:exactMatch MEDGEN:107472 semapv:UnspecifiedMatching MONDO:0800322 membranous obstruction of inferior vena cava skos:exactMatch UMLS:C0546323 semapv:UnspecifiedMatching MONDO:0800323 long QT syndrome 4 skos:exactMatch MEDGEN:331449 semapv:UnspecifiedMatching MONDO:0800323 long QT syndrome 4 skos:exactMatch UMLS:C1833154 semapv:UnspecifiedMatching MONDO:0800324 microphthalmia, isolated, with coloboma 8 skos:exactMatch MEDGEN:761921 semapv:UnspecifiedMatching MONDO:0800324 microphthalmia, isolated, with coloboma 8 skos:exactMatch UMLS:C3540845 semapv:UnspecifiedMatching MONDO:0800328 retinitis pigmentosa 94, variable age at onset skos:exactMatch MEDGEN:1805655 semapv:UnspecifiedMatching MONDO:0800328 retinitis pigmentosa 94, variable age at onset skos:exactMatch UMLS:C5676889 semapv:UnspecifiedMatching MONDO:0800329 febrile seizures, familial, 3a skos:exactMatch MEDGEN:442807 semapv:UnspecifiedMatching MONDO:0800329 febrile seizures, familial, 3a skos:exactMatch UMLS:C2751756 semapv:UnspecifiedMatching MONDO:0800330 myoclonic epilepsy, juvenile, 2 skos:exactMatch MEDGEN:854640 semapv:UnspecifiedMatching MONDO:0800330 myoclonic epilepsy, juvenile, 2 skos:exactMatch UMLS:C3887932 semapv:UnspecifiedMatching MONDO:0800331 hyperglycinemia, transient neonatal skos:exactMatch MEDGEN:82818 semapv:UnspecifiedMatching MONDO:0800331 hyperglycinemia, transient neonatal skos:exactMatch UMLS:C0268560 semapv:UnspecifiedMatching MONDO:0800335 migraine, familial hemiplegic, 4 skos:exactMatch MEDGEN:334830 semapv:UnspecifiedMatching MONDO:0800335 migraine, familial hemiplegic, 4 skos:exactMatch UMLS:C1843766 semapv:UnspecifiedMatching MONDO:0800337 acute tubulointerstitial nephritis skos:exactMatch MEDGEN:334716 semapv:UnspecifiedMatching MONDO:0800337 acute tubulointerstitial nephritis skos:exactMatch UMLS:C1843274 semapv:UnspecifiedMatching MONDO:0800339 laryngospasm, severe neonatal episodic skos:exactMatch MEDGEN:460867 semapv:UnspecifiedMatching MONDO:0800339 laryngospasm, severe neonatal episodic skos:exactMatch UMLS:C3149517 semapv:UnspecifiedMatching MONDO:0800341 congenital myopathy 4A, autosomal dominant skos:exactMatch OMIM:255310 congenital myopathy 4a, autosomal dominant semapv:UnspecifiedMatching MONDO:0800344 brachydactyly-syndactyly-oligodactyly syndrome skos:exactMatch MEDGEN:934774 semapv:UnspecifiedMatching MONDO:0800344 brachydactyly-syndactyly-oligodactyly syndrome skos:exactMatch UMLS:C4310807 semapv:UnspecifiedMatching MONDO:0800345 atrial fibrillation, familial, 17 skos:exactMatch MEDGEN:861997 semapv:UnspecifiedMatching MONDO:0800345 atrial fibrillation, familial, 17 skos:exactMatch UMLS:C4013560 semapv:UnspecifiedMatching MONDO:0800346 left ventricular noncompaction 9 skos:exactMatch MEDGEN:814475 semapv:UnspecifiedMatching MONDO:0800346 left ventricular noncompaction 9 skos:exactMatch UMLS:C3808145 semapv:UnspecifiedMatching MONDO:0800347 cardiomyopathy, familial hypertrophic, 23, with or without ventricular noncompaction skos:exactMatch MEDGEN:897129 semapv:UnspecifiedMatching MONDO:0800347 cardiomyopathy, familial hypertrophic, 23, with or without ventricular noncompaction skos:exactMatch UMLS:C4225649 semapv:UnspecifiedMatching MONDO:0800348 retinitis pigmentosa 53 skos:exactMatch MEDGEN:461558 semapv:UnspecifiedMatching MONDO:0800348 retinitis pigmentosa 53 skos:exactMatch UMLS:C3150208 semapv:UnspecifiedMatching MONDO:0800349 atrial fibrillation, familial, 16 skos:exactMatch MEDGEN:862136 semapv:UnspecifiedMatching MONDO:0800349 atrial fibrillation, familial, 16 skos:exactMatch UMLS:C4013699 semapv:UnspecifiedMatching MONDO:0800350 left ventricular noncompaction 4 skos:exactMatch MEDGEN:462032 semapv:UnspecifiedMatching MONDO:0800350 left ventricular noncompaction 4 skos:exactMatch UMLS:C3150682 semapv:UnspecifiedMatching MONDO:0800351 left ventricular noncompaction 5 skos:exactMatch MEDGEN:462040 semapv:UnspecifiedMatching MONDO:0800351 left ventricular noncompaction 5 skos:exactMatch UMLS:C3150690 semapv:UnspecifiedMatching MONDO:0800352 retinitis pigmentosa 65 skos:exactMatch MEDGEN:765766 semapv:UnspecifiedMatching MONDO:0800352 retinitis pigmentosa 65 skos:exactMatch UMLS:C3552852 semapv:UnspecifiedMatching MONDO:0800353 congenital disorder of glycosylation, type Ibb skos:exactMatch MEDGEN:1637983 semapv:UnspecifiedMatching MONDO:0800353 congenital disorder of glycosylation, type Ibb skos:exactMatch UMLS:C4693133 semapv:UnspecifiedMatching MONDO:0800354 febrile seizures, familial, 3b skos:exactMatch MEDGEN:462579 semapv:UnspecifiedMatching MONDO:0800354 febrile seizures, familial, 3b skos:exactMatch UMLS:C3151229 semapv:UnspecifiedMatching MONDO:0800355 parasomnia, sleep terrors type skos:exactMatch MEDGEN:462714 semapv:UnspecifiedMatching MONDO:0800355 parasomnia, sleep terrors type skos:exactMatch UMLS:C3151364 semapv:UnspecifiedMatching MONDO:0800356 short-rib thoracic dysplasia 7/20 with polydactyly, digenic skos:exactMatch MEDGEN:1662086 semapv:UnspecifiedMatching MONDO:0800356 short-rib thoracic dysplasia 7/20 with polydactyly, digenic skos:exactMatch UMLS:C4747658 semapv:UnspecifiedMatching MONDO:0800357 hyperpigmentation, progressive cribriform and zosteriform skos:exactMatch MEDGEN:75526 semapv:UnspecifiedMatching MONDO:0800357 hyperpigmentation, progressive cribriform and zosteriform skos:exactMatch UMLS:C0263579 semapv:UnspecifiedMatching MONDO:0800358 schizophrenia 17 skos:exactMatch MEDGEN:482154 semapv:UnspecifiedMatching MONDO:0800358 schizophrenia 17 skos:exactMatch OMIM:621407 schizophrenia 17 semapv:UnspecifiedMatching MONDO:0800358 schizophrenia 17 skos:exactMatch UMLS:C3280524 semapv:UnspecifiedMatching MONDO:0800359 retinitis pigmentosa 64 skos:exactMatch MEDGEN:482676 semapv:UnspecifiedMatching MONDO:0800359 retinitis pigmentosa 64 skos:exactMatch UMLS:C3281046 semapv:UnspecifiedMatching MONDO:0800363 Joubert syndrome 19 skos:exactMatch MEDGEN:766760 semapv:UnspecifiedMatching MONDO:0800363 Joubert syndrome 19 skos:exactMatch UMLS:C3553846 semapv:UnspecifiedMatching MONDO:0800364 peroxisome biogenesis disorder, complementation group 3 skos:exactMatch MEDGEN:356508 semapv:UnspecifiedMatching MONDO:0800364 peroxisome biogenesis disorder, complementation group 3 skos:exactMatch UMLS:C1866340 semapv:UnspecifiedMatching MONDO:0800365 peroxisome biogenesis disorder, complementation group K skos:exactMatch MEDGEN:356487 semapv:UnspecifiedMatching MONDO:0800365 peroxisome biogenesis disorder, complementation group K skos:exactMatch UMLS:C1866257 semapv:UnspecifiedMatching MONDO:0800366 dyskeratosis congenita, autosomal dominant 4 skos:exactMatch DOID:0070020 autosomal dominant dyskeratosis congenita 4 semapv:UnspecifiedMatching MONDO:0800366 dyskeratosis congenita, autosomal dominant 4 skos:exactMatch MEDGEN:815132 semapv:UnspecifiedMatching MONDO:0800366 dyskeratosis congenita, autosomal dominant 4 skos:exactMatch UMLS:C3808802 semapv:UnspecifiedMatching MONDO:0800367 cardiomyopathy, dilated, 1LL skos:exactMatch MEDGEN:815619 semapv:UnspecifiedMatching MONDO:0800367 cardiomyopathy, dilated, 1LL skos:exactMatch UMLS:C3809289 semapv:UnspecifiedMatching MONDO:0800368 cardiomyopathy, dilated, 1MM skos:exactMatch DOID:0081158 dilated cardiomyopathy 1MM semapv:UnspecifiedMatching MONDO:0800368 cardiomyopathy, dilated, 1MM skos:exactMatch MEDGEN:815676 semapv:UnspecifiedMatching MONDO:0800368 cardiomyopathy, dilated, 1MM skos:exactMatch UMLS:C3809346 semapv:UnspecifiedMatching MONDO:0800369 Parkinson disease 19B, early-onset skos:exactMatch MEDGEN:934769 semapv:UnspecifiedMatching MONDO:0800369 Parkinson disease 19B, early-onset skos:exactMatch UMLS:C4310802 semapv:UnspecifiedMatching MONDO:0800370 dyskeratosis congenita, autosomal recessive 7 skos:exactMatch MEDGEN:903803 semapv:UnspecifiedMatching MONDO:0800370 dyskeratosis congenita, autosomal recessive 7 skos:exactMatch UMLS:C4225283 semapv:UnspecifiedMatching MONDO:0800371 cardiomyopathy, familial restrictive, 5 skos:exactMatch MEDGEN:934715 semapv:UnspecifiedMatching MONDO:0800371 cardiomyopathy, familial restrictive, 5 skos:exactMatch UMLS:C4310748 semapv:UnspecifiedMatching MONDO:0800372 Joubert syndrome 29 skos:exactMatch DOID:0080276 Joubert syndrome 29 semapv:UnspecifiedMatching MONDO:0800372 Joubert syndrome 29 skos:exactMatch MEDGEN:1625238 semapv:UnspecifiedMatching MONDO:0800372 Joubert syndrome 29 skos:exactMatch UMLS:C4539715 semapv:UnspecifiedMatching MONDO:0800374 ventricular tachycardia, catecholaminergic polymorphic 6 skos:exactMatch MEDGEN:1712279 semapv:UnspecifiedMatching MONDO:0800374 ventricular tachycardia, catecholaminergic polymorphic 6 skos:exactMatch UMLS:C5394069 semapv:UnspecifiedMatching MONDO:0800375 developmental delay, epilepsy, and neonatal diabetes 1 skos:exactMatch MEDGEN:1709191 semapv:UnspecifiedMatching MONDO:0800375 developmental delay, epilepsy, and neonatal diabetes 1 skos:exactMatch UMLS:C5394597 semapv:UnspecifiedMatching MONDO:0800376 developmental delay, epilepsy, and neonatal diabetes 2 skos:exactMatch MEDGEN:1712655 semapv:UnspecifiedMatching MONDO:0800376 developmental delay, epilepsy, and neonatal diabetes 2 skos:exactMatch UMLS:C5394304 semapv:UnspecifiedMatching MONDO:0800378 17,20-lyase deficiency, isolated skos:exactMatch MEDGEN:479479 semapv:UnspecifiedMatching MONDO:0800378 17,20-lyase deficiency, isolated skos:exactMatch Orphanet:90796 46,XY difference of sex development due to isolated 17,20-lyase deficiency semapv:UnspecifiedMatching MONDO:0800378 17,20-lyase deficiency, isolated skos:exactMatch UMLS:C3277849 semapv:UnspecifiedMatching MONDO:0800380 17-alpha-hydroxylase/17,20-lyase deficiency, combined partial skos:exactMatch MEDGEN:865627 semapv:UnspecifiedMatching MONDO:0800380 17-alpha-hydroxylase/17,20-lyase deficiency, combined partial skos:exactMatch UMLS:C4017190 semapv:UnspecifiedMatching MONDO:0800382 Joubert syndrome 11 skos:exactMatch MEDGEN:480833 semapv:UnspecifiedMatching MONDO:0800382 Joubert syndrome 11 skos:exactMatch UMLS:C3279203 semapv:UnspecifiedMatching MONDO:0800383 Joubert syndrome 34 skos:exactMatch MEDGEN:1612206 semapv:UnspecifiedMatching MONDO:0800383 Joubert syndrome 34 skos:exactMatch UMLS:C4539386 semapv:UnspecifiedMatching MONDO:0800408 urogenital adysplasia skos:exactMatch MEDGEN:436071 semapv:UnspecifiedMatching MONDO:0800408 urogenital adysplasia skos:exactMatch UMLS:C2674045 semapv:UnspecifiedMatching MONDO:0800409 ventricular fibrillation during myocardial infarction, susceptibility to skos:exactMatch MEDGEN:866105 semapv:UnspecifiedMatching MONDO:0800409 ventricular fibrillation during myocardial infarction, susceptibility to skos:exactMatch UMLS:C4017668 semapv:UnspecifiedMatching MONDO:0800410 UV-induced skin damage, susceptibility to skos:exactMatch MEDGEN:394510 semapv:UnspecifiedMatching MONDO:0800410 UV-induced skin damage, susceptibility to skos:exactMatch UMLS:C2678403 semapv:UnspecifiedMatching MONDO:0800413 antisocial behavior, susceptibility to skos:exactMatch MEDGEN:934798 semapv:UnspecifiedMatching MONDO:0800413 antisocial behavior, susceptibility to skos:exactMatch UMLS:C4310831 semapv:UnspecifiedMatching MONDO:0800414 aplastic anemia, susceptibility to skos:exactMatch MEDGEN:394560 semapv:UnspecifiedMatching MONDO:0800414 aplastic anemia, susceptibility to skos:exactMatch UMLS:C2684859 semapv:UnspecifiedMatching MONDO:0800415 asthma, aspirin-induced, susceptibility to skos:exactMatch MEDGEN:362637 semapv:UnspecifiedMatching MONDO:0800415 asthma, aspirin-induced, susceptibility to skos:exactMatch UMLS:C1876174 semapv:UnspecifiedMatching MONDO:0800416 autism, susceptibility to, 1 skos:exactMatch MEDGEN:369890 semapv:UnspecifiedMatching MONDO:0800416 autism, susceptibility to, 1 skos:exactMatch UMLS:C1968924 semapv:UnspecifiedMatching MONDO:0800417 autism, susceptibility to, 4 skos:exactMatch MEDGEN:361812 semapv:UnspecifiedMatching MONDO:0800417 autism, susceptibility to, 4 skos:exactMatch UMLS:C1876176 semapv:UnspecifiedMatching MONDO:0800420 breast cancer, familial, susceptibility to, 3 skos:exactMatch MEDGEN:462010 semapv:UnspecifiedMatching MONDO:0800420 breast cancer, familial, susceptibility to, 3 skos:exactMatch UMLS:C3150660 semapv:UnspecifiedMatching MONDO:0800421 cardiomyopathy, familial hypertrophic, 4, susceptibility to skos:exactMatch MEDGEN:414013 semapv:UnspecifiedMatching MONDO:0800421 cardiomyopathy, familial hypertrophic, 4, susceptibility to skos:exactMatch UMLS:C2751427 semapv:UnspecifiedMatching MONDO:0800422 cirrhosis, noncryptogenic, susceptibility to skos:exactMatch MEDGEN:324345 semapv:UnspecifiedMatching MONDO:0800422 cirrhosis, noncryptogenic, susceptibility to skos:exactMatch UMLS:C1835713 semapv:UnspecifiedMatching MONDO:0800423 colorectal cancer, susceptibility to, 4 skos:exactMatch MEDGEN:394248 semapv:UnspecifiedMatching MONDO:0800423 colorectal cancer, susceptibility to, 4 skos:exactMatch UMLS:C2677290 semapv:UnspecifiedMatching MONDO:0800424 colorectal cancer, susceptibility to, on chromosome 15 skos:exactMatch MEDGEN:394249 semapv:UnspecifiedMatching MONDO:0800424 colorectal cancer, susceptibility to, on chromosome 15 skos:exactMatch UMLS:C2677291 semapv:UnspecifiedMatching MONDO:0800425 coronary artery disease, severe, susceptibility to skos:exactMatch MEDGEN:349546 semapv:UnspecifiedMatching MONDO:0800425 coronary artery disease, severe, susceptibility to skos:exactMatch UMLS:C1862591 semapv:UnspecifiedMatching MONDO:0800427 dengue hemorrhagic fever, susceptibility to skos:exactMatch MEDGEN:482214 semapv:UnspecifiedMatching MONDO:0800427 dengue hemorrhagic fever, susceptibility to skos:exactMatch UMLS:C3280584 semapv:UnspecifiedMatching MONDO:0800428 dengue shock syndrome, susceptibility to skos:exactMatch MEDGEN:482215 semapv:UnspecifiedMatching MONDO:0800428 dengue shock syndrome, susceptibility to skos:exactMatch UMLS:C3280585 semapv:UnspecifiedMatching MONDO:0800429 dyslexia, susceptibility to, 4 skos:exactMatch MEDGEN:338829 semapv:UnspecifiedMatching MONDO:0800429 dyslexia, susceptibility to, 4 skos:exactMatch UMLS:C1851968 semapv:UnspecifiedMatching MONDO:0800430 dyslexia, susceptibility to, 7 skos:exactMatch MEDGEN:338830 semapv:UnspecifiedMatching MONDO:0800430 dyslexia, susceptibility to, 7 skos:exactMatch UMLS:C1851969 semapv:UnspecifiedMatching MONDO:0800431 efavirenz central nervous system toxicity, susceptibility to skos:exactMatch MEDGEN:482783 semapv:UnspecifiedMatching MONDO:0800431 efavirenz central nervous system toxicity, susceptibility to skos:exactMatch UMLS:C3281153 semapv:UnspecifiedMatching MONDO:0800432 obesity, susceptibility to skos:exactMatch MEDGEN:356231 semapv:UnspecifiedMatching MONDO:0800432 obesity, susceptibility to skos:exactMatch UMLS:C1866432 semapv:UnspecifiedMatching MONDO:0800433 ovarian cancer, familial, susceptibility to, 1 skos:exactMatch MEDGEN:393561 semapv:UnspecifiedMatching MONDO:0800433 ovarian cancer, familial, susceptibility to, 1 skos:exactMatch UMLS:C2676678 semapv:UnspecifiedMatching MONDO:0800434 ovarian cancer, familial, susceptibility to, 2 skos:exactMatch MEDGEN:382627 semapv:UnspecifiedMatching MONDO:0800434 ovarian cancer, familial, susceptibility to, 2 skos:exactMatch UMLS:C2675522 semapv:UnspecifiedMatching MONDO:0800435 ovarian cancer, familial, susceptibility to, 3 skos:exactMatch MEDGEN:462011 semapv:UnspecifiedMatching MONDO:0800435 ovarian cancer, familial, susceptibility to, 3 skos:exactMatch UMLS:C3150661 semapv:UnspecifiedMatching MONDO:0800436 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 skos:exactMatch DOID:0081124 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1 semapv:UnspecifiedMatching MONDO:0800436 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 skos:exactMatch MEDGEN:1808104 semapv:UnspecifiedMatching MONDO:0800436 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 skos:exactMatch OMIM:213980 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1 semapv:UnspecifiedMatching MONDO:0800436 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 skos:exactMatch Orphanet:1394 Cerebrofaciothoracic dysplasia semapv:UnspecifiedMatching MONDO:0800436 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 skos:exactMatch SCTID:720635002 semapv:UnspecifiedMatching MONDO:0800436 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 skos:exactMatch UMLS:C5677021 semapv:UnspecifiedMatching MONDO:0800436 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 skos:exactMatch mesh:C565862 semapv:UnspecifiedMatching MONDO:0800437 Carey-Fineman-Ziter syndrome 1 skos:exactMatch DOID:0061115 Carey-Fineman-Ziter syndrome 1 semapv:UnspecifiedMatching MONDO:0800437 Carey-Fineman-Ziter syndrome 1 skos:exactMatch DOID:0080194 Carey-Fineman-Ziter syndrome semapv:UnspecifiedMatching MONDO:0800437 Carey-Fineman-Ziter syndrome 1 skos:exactMatch MEDGEN:1804638 semapv:UnspecifiedMatching MONDO:0800437 Carey-Fineman-Ziter syndrome 1 skos:exactMatch OMIM:254940 carey-fineman-ziter syndrome 1 semapv:UnspecifiedMatching MONDO:0800437 Carey-Fineman-Ziter syndrome 1 skos:exactMatch SCTID:429753001 semapv:UnspecifiedMatching MONDO:0800437 Carey-Fineman-Ziter syndrome 1 skos:exactMatch UMLS:C5676876 semapv:UnspecifiedMatching MONDO:0800437 Carey-Fineman-Ziter syndrome 1 skos:exactMatch mesh:C536102 semapv:UnspecifiedMatching MONDO:0800438 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 skos:exactMatch DOID:0070477 diphthamide deficiency syndrome 1 semapv:UnspecifiedMatching MONDO:0800438 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 skos:exactMatch OMIM:616901 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 semapv:UnspecifiedMatching MONDO:0800438 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 skos:exactMatch Orphanet:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0800444 Birt-Hogg-Dube syndrome skos:exactMatch MEDGEN:91070 semapv:UnspecifiedMatching MONDO:0800444 Birt-Hogg-Dube syndrome skos:exactMatch OMIMPS:135150 Birt-Hogg-Dube syndrome semapv:UnspecifiedMatching MONDO:0800444 Birt-Hogg-Dube syndrome skos:exactMatch UMLS:C0346010 semapv:UnspecifiedMatching MONDO:0800445 Birt-Hogg-Dube syndrome 1 skos:exactMatch DOID:0050676 Birt-Hogg-Dube syndrome semapv:UnspecifiedMatching MONDO:0800445 Birt-Hogg-Dube syndrome 1 skos:exactMatch NCIT:C28244 Birt-Hogg-Dube Syndrome semapv:UnspecifiedMatching MONDO:0800445 Birt-Hogg-Dube syndrome 1 skos:exactMatch OMIM:135150 birt-hogg-dube syndrome 1 semapv:UnspecifiedMatching MONDO:0800445 Birt-Hogg-Dube syndrome 1 skos:exactMatch Orphanet:122 Birt-Hogg-Dubé syndrome semapv:UnspecifiedMatching MONDO:0800445 Birt-Hogg-Dube syndrome 1 skos:exactMatch SCTID:110985001 semapv:UnspecifiedMatching MONDO:0800445 Birt-Hogg-Dube syndrome 1 skos:exactMatch mesh:D058249 semapv:UnspecifiedMatching MONDO:0800446 bleeding diathesis due to thromboxane synthesis deficiency skos:exactMatch MEDGEN:1678745 semapv:UnspecifiedMatching MONDO:0800446 bleeding diathesis due to thromboxane synthesis deficiency skos:exactMatch Orphanet:220443 Bleeding diathesis due to thromboxane synthesis deficiency semapv:UnspecifiedMatching MONDO:0800446 bleeding diathesis due to thromboxane synthesis deficiency skos:exactMatch UMLS:C5190857 semapv:UnspecifiedMatching MONDO:0800446 bleeding diathesis due to thromboxane synthesis deficiency skos:exactMatch icd11.foundation:1676860885 Bleeding diathesis due to thromboxane synthesis deficiency semapv:UnspecifiedMatching MONDO:0800447 bleeding disorder, platelet-type, 13, susceptibility to skos:exactMatch MEDGEN:481244 semapv:UnspecifiedMatching MONDO:0800447 bleeding disorder, platelet-type, 13, susceptibility to skos:exactMatch OMIM:614009 bleeding disorder, platelet-type, 13, susceptibility to semapv:UnspecifiedMatching MONDO:0800447 bleeding disorder, platelet-type, 13, susceptibility to skos:exactMatch UMLS:C3279614 semapv:UnspecifiedMatching MONDO:0800448 leukoencephalopathy with vanishing white matter skos:exactMatch DOID:0060868 leukoencephalopathy with vanishing white matter semapv:UnspecifiedMatching MONDO:0800448 leukoencephalopathy with vanishing white matter skos:exactMatch MEDGEN:347037 semapv:UnspecifiedMatching MONDO:0800448 leukoencephalopathy with vanishing white matter skos:exactMatch NCIT:C122664 Leukoencephalopathy with Vanishing White Matter semapv:UnspecifiedMatching MONDO:0800448 leukoencephalopathy with vanishing white matter skos:exactMatch OMIMPS:603896 Leukoencephalopathy with vanishing white matter semapv:UnspecifiedMatching MONDO:0800448 leukoencephalopathy with vanishing white matter skos:exactMatch Orphanet:135 CACH syndrome semapv:UnspecifiedMatching MONDO:0800448 leukoencephalopathy with vanishing white matter skos:exactMatch SCTID:447351004 semapv:UnspecifiedMatching MONDO:0800448 leukoencephalopathy with vanishing white matter skos:exactMatch UMLS:C1858991 semapv:UnspecifiedMatching MONDO:0800449 lysosomal acid lipase deficiency skos:exactMatch DOID:0080217 lysosomal acid lipase deficiency semapv:UnspecifiedMatching MONDO:0800449 lysosomal acid lipase deficiency skos:exactMatch MEDGEN:1807768 semapv:UnspecifiedMatching MONDO:0800449 lysosomal acid lipase deficiency skos:exactMatch OMIMPS:278000 Lysosomal acid lipase deficiency semapv:UnspecifiedMatching MONDO:0800449 lysosomal acid lipase deficiency skos:exactMatch Orphanet:275761 Lysosomal acid lipase deficiency semapv:UnspecifiedMatching MONDO:0800449 lysosomal acid lipase deficiency skos:exactMatch SCTID:715923003 semapv:UnspecifiedMatching MONDO:0800449 lysosomal acid lipase deficiency skos:exactMatch UMLS:C5574740 semapv:UnspecifiedMatching MONDO:0800449 lysosomal acid lipase deficiency skos:exactMatch icd11.foundation:381622932 Lysosomal acid lipase deficiency semapv:UnspecifiedMatching MONDO:0800449 lysosomal acid lipase deficiency skos:exactMatch mesh:C531854 semapv:UnspecifiedMatching MONDO:0800450 microcephaly, short stature, and impaired glucose metabolism skos:exactMatch OMIMPS:616033 Microcephaly, short stature, and impaired glucose metabolism semapv:UnspecifiedMatching MONDO:0800451 congenital amegakaryocytic thrombocytopenia skos:exactMatch MEDGEN:272171 semapv:UnspecifiedMatching MONDO:0800451 congenital amegakaryocytic thrombocytopenia skos:exactMatch OMIMPS:604498 Amegakaryocytic thrombocytopenia, congenital semapv:UnspecifiedMatching MONDO:0800451 congenital amegakaryocytic thrombocytopenia skos:exactMatch UMLS:C1327915 semapv:UnspecifiedMatching MONDO:0800451 congenital amegakaryocytic thrombocytopenia skos:exactMatch icd11.foundation:801723173 Congenital amegakaryocytic thrombocytopenia semapv:UnspecifiedMatching MONDO:0800452 congenital amegakaryocytic thrombocytopenia 1 skos:exactMatch DOID:0061005 congenital amegakaryocytic thrombocytopenia 1 semapv:UnspecifiedMatching MONDO:0800452 congenital amegakaryocytic thrombocytopenia 1 skos:exactMatch DOID:0090118 congenital amegakaryocytic thrombocytopenia semapv:UnspecifiedMatching MONDO:0800452 congenital amegakaryocytic thrombocytopenia 1 skos:exactMatch MEDGEN:1845022 semapv:UnspecifiedMatching MONDO:0800452 congenital amegakaryocytic thrombocytopenia 1 skos:exactMatch NCIT:C115207 Congenital Amegakaryocytic Thrombocytopenia semapv:UnspecifiedMatching MONDO:0800452 congenital amegakaryocytic thrombocytopenia 1 skos:exactMatch OMIM:604498 amegakaryocytic thrombocytopenia, congenital, 1 semapv:UnspecifiedMatching MONDO:0800452 congenital amegakaryocytic thrombocytopenia 1 skos:exactMatch Orphanet:3319 Congenital amegakaryocytic thrombocytopenia semapv:UnspecifiedMatching MONDO:0800452 congenital amegakaryocytic thrombocytopenia 1 skos:exactMatch SCTID:716336002 semapv:UnspecifiedMatching MONDO:0800452 congenital amegakaryocytic thrombocytopenia 1 skos:exactMatch UMLS:C5882667 semapv:UnspecifiedMatching MONDO:0800452 congenital amegakaryocytic thrombocytopenia 1 skos:exactMatch mesh:C535982 semapv:UnspecifiedMatching MONDO:0800453 juvenile absence epilepsy skos:exactMatch DOID:0060172 juvenile absence epilepsy semapv:UnspecifiedMatching MONDO:0800453 juvenile absence epilepsy skos:exactMatch MEDGEN:1388059 semapv:UnspecifiedMatching MONDO:0800453 juvenile absence epilepsy skos:exactMatch NCIT:C129868 Juvenile Absence Epilepsy semapv:UnspecifiedMatching MONDO:0800453 juvenile absence epilepsy skos:exactMatch Orphanet:1941 Juvenile absence epilepsy semapv:UnspecifiedMatching MONDO:0800453 juvenile absence epilepsy skos:exactMatch SCTID:230413002 semapv:UnspecifiedMatching MONDO:0800453 juvenile absence epilepsy skos:exactMatch UMLS:C4317339 semapv:UnspecifiedMatching MONDO:0800453 juvenile absence epilepsy skos:exactMatch icd11.foundation:519416529 Juvenile absence epilepsy semapv:UnspecifiedMatching MONDO:0800455 Birt-Hogg-Dube syndrome 2 skos:exactMatch MEDGEN:1841312 semapv:UnspecifiedMatching MONDO:0800455 Birt-Hogg-Dube syndrome 2 skos:exactMatch OMIM:620459 birt-hogg-dube syndrome 2 semapv:UnspecifiedMatching MONDO:0800455 Birt-Hogg-Dube syndrome 2 skos:exactMatch UMLS:C5830676 semapv:UnspecifiedMatching MONDO:0800478 trigeminal trophic syndrome skos:exactMatch MEDGEN:698241 semapv:UnspecifiedMatching MONDO:0800478 trigeminal trophic syndrome skos:exactMatch Orphanet:664901 Trigeminal trophic syndrome semapv:UnspecifiedMatching MONDO:0800478 trigeminal trophic syndrome skos:exactMatch UMLS:C1274928 semapv:UnspecifiedMatching MONDO:0800478 trigeminal trophic syndrome skos:exactMatch icd11.foundation:983392135 Trigeminal trophic syndrome semapv:UnspecifiedMatching MONDO:0800480 non-verbal learning disability skos:exactMatch MEDGEN:752350 semapv:UnspecifiedMatching MONDO:0800480 non-verbal learning disability skos:exactMatch UMLS:C2732653 semapv:UnspecifiedMatching MONDO:0800481 oral fibroma skos:exactMatch MEDGEN:1843431 semapv:UnspecifiedMatching MONDO:0800481 oral fibroma skos:exactMatch UMLS:C0948118 semapv:UnspecifiedMatching MONDO:0800486 metabolic bone disorder skos:exactMatch MEDGEN:2699 semapv:UnspecifiedMatching MONDO:0800486 metabolic bone disorder skos:exactMatch NCIT:C97045 Metabolic Bone Disorder semapv:UnspecifiedMatching MONDO:0800486 metabolic bone disorder skos:exactMatch UMLS:C0005944 semapv:UnspecifiedMatching MONDO:0800491 early-infantile DEE skos:exactMatch DOID:0050709 early infantile epileptic encephalopathy semapv:UnspecifiedMatching MONDO:0800491 early-infantile DEE skos:exactMatch DOID:308 early myoclonic encephalopathy semapv:UnspecifiedMatching MONDO:0800491 early-infantile DEE skos:exactMatch MEDGEN:97959 semapv:UnspecifiedMatching MONDO:0800491 early-infantile DEE skos:exactMatch NCIT:C116593 Early Myoclonic Encephalopathy semapv:UnspecifiedMatching MONDO:0800491 early-infantile DEE skos:exactMatch Orphanet:1934 Early infantile developmental and epileptic encephalopathy semapv:UnspecifiedMatching MONDO:0800491 early-infantile DEE skos:exactMatch SCTID:230429005 semapv:UnspecifiedMatching MONDO:0800491 early-infantile DEE skos:exactMatch SCTID:44423001 semapv:UnspecifiedMatching MONDO:0800491 early-infantile DEE skos:exactMatch UMLS:C0393706 semapv:UnspecifiedMatching MONDO:0800491 early-infantile DEE skos:exactMatch icd11.foundation:1877241469 Early myoclonic encephalopathy semapv:UnspecifiedMatching MONDO:0800493 familial mesial temporal lobe epilepsy skos:exactMatch Orphanet:163717 Familial mesial temporal lobe epilepsy semapv:UnspecifiedMatching MONDO:0800496 epilepsy with auditory features skos:exactMatch MEDGEN:1871199 semapv:UnspecifiedMatching MONDO:0800496 epilepsy with auditory features skos:exactMatch UMLS:C5967406 semapv:UnspecifiedMatching MONDO:0800497 interstitial lung disease 2 skos:exactMatch DOID:0060971 interstitial lung disease 2 semapv:UnspecifiedMatching MONDO:0800497 interstitial lung disease 2 skos:exactMatch MEDGEN:1794136 semapv:UnspecifiedMatching MONDO:0800497 interstitial lung disease 2 skos:exactMatch OMIM:178500 interstitial lung disease 2 semapv:UnspecifiedMatching MONDO:0800497 interstitial lung disease 2 skos:exactMatch UMLS:C5561926 semapv:UnspecifiedMatching MONDO:0800501 developmental and/or epileptic encephalopathy with spike-wave activation in sleep skos:exactMatch MEDGEN:1790601 semapv:UnspecifiedMatching MONDO:0800501 developmental and/or epileptic encephalopathy with spike-wave activation in sleep skos:exactMatch Orphanet:725 Developmental and epileptic encephalopathy with spike-wave activation in sleep semapv:UnspecifiedMatching MONDO:0800501 developmental and/or epileptic encephalopathy with spike-wave activation in sleep skos:exactMatch UMLS:C5552731 semapv:UnspecifiedMatching MONDO:0800504 idiopathic pulmonary fibrosis skos:exactMatch DOID:0050156 idiopathic pulmonary fibrosis semapv:UnspecifiedMatching MONDO:0800504 idiopathic pulmonary fibrosis skos:exactMatch ICD10CM:J84.112 Idiopathic pulmonary fibrosis semapv:UnspecifiedMatching MONDO:0800504 idiopathic pulmonary fibrosis skos:exactMatch MEDGEN:321462 semapv:UnspecifiedMatching MONDO:0800504 idiopathic pulmonary fibrosis skos:exactMatch NCIT:C35716 Idiopathic Pulmonary Fibrosis semapv:UnspecifiedMatching MONDO:0800504 idiopathic pulmonary fibrosis skos:exactMatch Orphanet:2032 Idiopathic pulmonary fibrosis semapv:UnspecifiedMatching MONDO:0800504 idiopathic pulmonary fibrosis skos:exactMatch UMLS:C1800706 semapv:UnspecifiedMatching MONDO:0800504 idiopathic pulmonary fibrosis skos:exactMatch icd11.foundation:1074069640 Idiopathic pulmonary fibrosis semapv:UnspecifiedMatching MONDO:0800504 idiopathic pulmonary fibrosis skos:exactMatch mesh:D054990 semapv:UnspecifiedMatching MONDO:0810000 choroidal neovascularization skos:exactMatch MEDGEN:154726 semapv:UnspecifiedMatching MONDO:0810000 choroidal neovascularization skos:exactMatch UMLS:C0600518 semapv:UnspecifiedMatching MONDO:0810000 choroidal neovascularization skos:exactMatch mesh:D020256 semapv:UnspecifiedMatching MONDO:0850001 congenital neuronal ceroid lipofuscinosis skos:exactMatch MEDGEN:351189 semapv:UnspecifiedMatching MONDO:0850001 congenital neuronal ceroid lipofuscinosis skos:exactMatch UMLS:C1864670 semapv:UnspecifiedMatching MONDO:0850001 congenital neuronal ceroid lipofuscinosis skos:exactMatch icd11.foundation:641209188 Congenital neuronal ceroid lipofuscinosis semapv:UnspecifiedMatching MONDO:0850007 syndromic lacrimal system disorder skos:exactMatch MEDGEN:1842875 semapv:UnspecifiedMatching MONDO:0850007 syndromic lacrimal system disorder skos:exactMatch Orphanet:519274 Syndromic lacrimal system disorder semapv:UnspecifiedMatching MONDO:0850007 syndromic lacrimal system disorder skos:exactMatch UMLS:C5681383 semapv:UnspecifiedMatching MONDO:0850008 anterior segment developmental abnormality with extraocular manifestations skos:exactMatch MEDGEN:1842782 semapv:UnspecifiedMatching MONDO:0850008 anterior segment developmental abnormality with extraocular manifestations skos:exactMatch Orphanet:519276 Anterior segment developmental abnormality with extraocular manifestations semapv:UnspecifiedMatching MONDO:0850008 anterior segment developmental abnormality with extraocular manifestations skos:exactMatch UMLS:C5681394 semapv:UnspecifiedMatching MONDO:0850009 syndromic microspherophakia skos:exactMatch MEDGEN:1842434 semapv:UnspecifiedMatching MONDO:0850009 syndromic microspherophakia skos:exactMatch Orphanet:519294 Syndromic microspherophakia semapv:UnspecifiedMatching MONDO:0850009 syndromic microspherophakia skos:exactMatch UMLS:C5681371 semapv:UnspecifiedMatching MONDO:0850010 congenital optic disk excavation skos:exactMatch MEDGEN:1842935 semapv:UnspecifiedMatching MONDO:0850010 congenital optic disk excavation skos:exactMatch Orphanet:519333 Congenital optic disc excavation semapv:UnspecifiedMatching MONDO:0850010 congenital optic disk excavation skos:exactMatch UMLS:C5681348 semapv:UnspecifiedMatching MONDO:0850013 twin anemia-polycythemia sequence skos:exactMatch MEDGEN:1843357 semapv:UnspecifiedMatching MONDO:0850013 twin anemia-polycythemia sequence skos:exactMatch Orphanet:617294 Twin anemia-polycythemia sequence semapv:UnspecifiedMatching MONDO:0850013 twin anemia-polycythemia sequence skos:exactMatch UMLS:C5576360 semapv:UnspecifiedMatching MONDO:0850014 twin-reversed arterial perfusion sequence skos:exactMatch MEDGEN:1842726 semapv:UnspecifiedMatching MONDO:0850014 twin-reversed arterial perfusion sequence skos:exactMatch Orphanet:617297 Twin-reversed arterial perfusion sequence semapv:UnspecifiedMatching MONDO:0850014 twin-reversed arterial perfusion sequence skos:exactMatch UMLS:C5575500 semapv:UnspecifiedMatching MONDO:0850015 selective intrauterine growth restriction skos:exactMatch MEDGEN:1842731 semapv:UnspecifiedMatching MONDO:0850015 selective intrauterine growth restriction skos:exactMatch Orphanet:617301 Selective intrauterine growth restriction semapv:UnspecifiedMatching MONDO:0850015 selective intrauterine growth restriction skos:exactMatch UMLS:C5681824 semapv:UnspecifiedMatching MONDO:0850030 complete hemimelia skos:exactMatch MEDGEN:1863414 semapv:UnspecifiedMatching MONDO:0850030 complete hemimelia skos:exactMatch Orphanet:498491 Non-syndromic complete hemimelia semapv:UnspecifiedMatching MONDO:0850030 complete hemimelia skos:exactMatch UMLS:C5925041 semapv:UnspecifiedMatching MONDO:0850046 amniotic fluid embolism skos:exactMatch MEDGEN:8586 semapv:UnspecifiedMatching MONDO:0850046 amniotic fluid embolism skos:exactMatch Orphanet:617304 Amniotic fluid embolism semapv:UnspecifiedMatching MONDO:0850046 amniotic fluid embolism skos:exactMatch UMLS:C0013927 semapv:UnspecifiedMatching MONDO:0850046 amniotic fluid embolism skos:exactMatch icd11.foundation:1017418792 Amniotic fluid embolism semapv:UnspecifiedMatching MONDO:0850048 classic eosinophilic pustular folliculitis skos:exactMatch Orphanet:617408 Classic eosinophilic pustular folliculitis semapv:UnspecifiedMatching MONDO:0850049 painful legs and moving toes syndrome skos:exactMatch MEDGEN:1842291 semapv:UnspecifiedMatching MONDO:0850049 painful legs and moving toes syndrome skos:exactMatch Orphanet:617440 Painful legs and moving toes syndrome semapv:UnspecifiedMatching MONDO:0850049 painful legs and moving toes syndrome skos:exactMatch UMLS:C5680388 semapv:UnspecifiedMatching MONDO:0850050 congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome skos:exactMatch MEDGEN:1842244 semapv:UnspecifiedMatching MONDO:0850050 congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome skos:exactMatch Orphanet:617449 Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome semapv:UnspecifiedMatching MONDO:0850050 congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome skos:exactMatch UMLS:C5681820 semapv:UnspecifiedMatching MONDO:0850053 F12-associated cold autoinflammatory syndrome skos:exactMatch MEDGEN:1843368 semapv:UnspecifiedMatching MONDO:0850053 F12-associated cold autoinflammatory syndrome skos:exactMatch Orphanet:617919 F12-associated cold autoinflammatory syndrome semapv:UnspecifiedMatching MONDO:0850053 F12-associated cold autoinflammatory syndrome skos:exactMatch UMLS:C5681829 semapv:UnspecifiedMatching MONDO:0850054 hemophilia B leyden skos:exactMatch MEDGEN:1845499 semapv:UnspecifiedMatching MONDO:0850054 hemophilia B leyden skos:exactMatch Orphanet:617930 Hemophilia B Leyden semapv:UnspecifiedMatching MONDO:0850054 hemophilia B leyden skos:exactMatch UMLS:C5848256 semapv:UnspecifiedMatching MONDO:0850058 chronic neurovisceral acid sphingomyelinase deficiency skos:exactMatch ICD10CM:E75.244 Niemann-Pick disease type A/B semapv:UnspecifiedMatching MONDO:0850058 chronic neurovisceral acid sphingomyelinase deficiency skos:exactMatch MEDGEN:1842316 semapv:UnspecifiedMatching MONDO:0850058 chronic neurovisceral acid sphingomyelinase deficiency skos:exactMatch Orphanet:618891 Chronic neurovisceral acid sphingomyelinase deficiency semapv:UnspecifiedMatching MONDO:0850058 chronic neurovisceral acid sphingomyelinase deficiency skos:exactMatch UMLS:C5539139 semapv:UnspecifiedMatching MONDO:0850059 hereditary persistence of fetal hemoglobin-intellectual disability syndrome skos:exactMatch Orphanet:619233 Hereditary persistence of fetal hemoglobin-intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0850064 inherited hematologic cancer-predisposing syndrome skos:exactMatch MEDGEN:1842853 semapv:UnspecifiedMatching MONDO:0850064 inherited hematologic cancer-predisposing syndrome skos:exactMatch Orphanet:619340 Inherited hematologic cancer-predisposing syndrome semapv:UnspecifiedMatching MONDO:0850064 inherited hematologic cancer-predisposing syndrome skos:exactMatch UMLS:C5681832 semapv:UnspecifiedMatching MONDO:0850065 neonatal-onset severe multisystemic autoinflammatory disease with increased IL18 skos:exactMatch MEDGEN:1863412 semapv:UnspecifiedMatching MONDO:0850065 neonatal-onset severe multisystemic autoinflammatory disease with increased IL18 skos:exactMatch Orphanet:619363 NOCARH syndrome semapv:UnspecifiedMatching MONDO:0850065 neonatal-onset severe multisystemic autoinflammatory disease with increased IL18 skos:exactMatch UMLS:C5925147 semapv:UnspecifiedMatching MONDO:0850066 SAMD9L-associated autoinflammatory syndrome skos:exactMatch MEDGEN:1842521 semapv:UnspecifiedMatching MONDO:0850066 SAMD9L-associated autoinflammatory syndrome skos:exactMatch Orphanet:619367 SAMD9L-associated autoinflammatory syndrome semapv:UnspecifiedMatching MONDO:0850066 SAMD9L-associated autoinflammatory syndrome skos:exactMatch UMLS:C5680414 semapv:UnspecifiedMatching MONDO:0850067 immune deficiency due to impaired neutrophil phagocytosis and migration skos:exactMatch MEDGEN:1843340 semapv:UnspecifiedMatching MONDO:0850067 immune deficiency due to impaired neutrophil phagocytosis and migration skos:exactMatch Orphanet:619941 Congenital neutropenia-combined immunodeficiency due to MKL1 deficiency semapv:UnspecifiedMatching MONDO:0850067 immune deficiency due to impaired neutrophil phagocytosis and migration skos:exactMatch UMLS:C5680413 semapv:UnspecifiedMatching MONDO:0850068 early-onset autoimmunity-autoinflammation-immunodeficiency syndrome skos:exactMatch MEDGEN:1842754 semapv:UnspecifiedMatching MONDO:0850068 early-onset autoimmunity-autoinflammation-immunodeficiency syndrome skos:exactMatch Orphanet:619948 Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to SOCS1 haploinsufficiency semapv:UnspecifiedMatching MONDO:0850068 early-onset autoimmunity-autoinflammation-immunodeficiency syndrome skos:exactMatch UMLS:C5680416 semapv:UnspecifiedMatching MONDO:0850069 familial hyperinflammatory lymphoproliferative immunodeficiency skos:exactMatch MEDGEN:1842618 semapv:UnspecifiedMatching MONDO:0850069 familial hyperinflammatory lymphoproliferative immunodeficiency skos:exactMatch Orphanet:619953 Familial hyperinflammatory lymphoproliferative immunodeficiency semapv:UnspecifiedMatching MONDO:0850069 familial hyperinflammatory lymphoproliferative immunodeficiency skos:exactMatch UMLS:C5680415 semapv:UnspecifiedMatching MONDO:0850070 CADINS disease skos:exactMatch MEDGEN:1842902 semapv:UnspecifiedMatching MONDO:0850070 CADINS disease skos:exactMatch Orphanet:619972 CADINS disease semapv:UnspecifiedMatching MONDO:0850070 CADINS disease skos:exactMatch UMLS:C5680417 semapv:UnspecifiedMatching MONDO:0850071 developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome skos:exactMatch MEDGEN:1842938 semapv:UnspecifiedMatching MONDO:0850071 developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome skos:exactMatch Orphanet:619979 Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome semapv:UnspecifiedMatching MONDO:0850071 developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome skos:exactMatch UMLS:C5681830 semapv:UnspecifiedMatching MONDO:0850072 non-syndromic unisutural craniosynostosis skos:exactMatch MEDGEN:1843281 semapv:UnspecifiedMatching MONDO:0850072 non-syndromic unisutural craniosynostosis skos:exactMatch Orphanet:620096 Non-syndromic unisutural craniosynostosis semapv:UnspecifiedMatching MONDO:0850072 non-syndromic unisutural craniosynostosis skos:exactMatch UMLS:C5680403 semapv:UnspecifiedMatching MONDO:0850073 non-syndromic unicoronal craniosynostosis skos:exactMatch MEDGEN:1842408 semapv:UnspecifiedMatching MONDO:0850073 non-syndromic unicoronal craniosynostosis skos:exactMatch Orphanet:620102 Non-syndromic unicoronal craniosynostosis semapv:UnspecifiedMatching MONDO:0850073 non-syndromic unicoronal craniosynostosis skos:exactMatch UMLS:C5680401 semapv:UnspecifiedMatching MONDO:0850074 non-syndromic unilambdoid craniosynostosis skos:exactMatch MEDGEN:1842908 semapv:UnspecifiedMatching MONDO:0850074 non-syndromic unilambdoid craniosynostosis skos:exactMatch Orphanet:620113 Non-syndromic unilambdoid craniosynostosis semapv:UnspecifiedMatching MONDO:0850074 non-syndromic unilambdoid craniosynostosis skos:exactMatch UMLS:C5680402 semapv:UnspecifiedMatching MONDO:0850075 non-syndromic unifrontosphenoidal craniosynostosis skos:exactMatch MEDGEN:1843063 semapv:UnspecifiedMatching MONDO:0850075 non-syndromic unifrontosphenoidal craniosynostosis skos:exactMatch Orphanet:620139 Non-syndromic unifrontosphenoidal craniosynostosis semapv:UnspecifiedMatching MONDO:0850075 non-syndromic unifrontosphenoidal craniosynostosis skos:exactMatch UMLS:C5680399 semapv:UnspecifiedMatching MONDO:0850076 non-syndromic unisquamosal craniosynostosis skos:exactMatch MEDGEN:1843002 semapv:UnspecifiedMatching MONDO:0850076 non-syndromic unisquamosal craniosynostosis skos:exactMatch Orphanet:620146 Non-syndromic unisquamosal craniosynostosis semapv:UnspecifiedMatching MONDO:0850076 non-syndromic unisquamosal craniosynostosis skos:exactMatch UMLS:C5680400 semapv:UnspecifiedMatching MONDO:0850077 non-syndromic multisutural craniosynostosis skos:exactMatch MEDGEN:1843294 semapv:UnspecifiedMatching MONDO:0850077 non-syndromic multisutural craniosynostosis skos:exactMatch Orphanet:620152 Non-syndromic multisutural craniosynostosis semapv:UnspecifiedMatching MONDO:0850077 non-syndromic multisutural craniosynostosis skos:exactMatch UMLS:C5680397 semapv:UnspecifiedMatching MONDO:0850078 non-syndromic non-specific multisutural craniosynostosis skos:exactMatch MEDGEN:1842261 semapv:UnspecifiedMatching MONDO:0850078 non-syndromic non-specific multisutural craniosynostosis skos:exactMatch Orphanet:620158 Non-syndromic non-specific multisutural craniosynostosis semapv:UnspecifiedMatching MONDO:0850078 non-syndromic non-specific multisutural craniosynostosis skos:exactMatch UMLS:C5680398 semapv:UnspecifiedMatching MONDO:0850079 non-syndromic bilambdoid craniosynostosis skos:exactMatch MEDGEN:1842897 semapv:UnspecifiedMatching MONDO:0850079 non-syndromic bilambdoid craniosynostosis skos:exactMatch Orphanet:620178 Non-syndromic bilambdoid craniosynostosis semapv:UnspecifiedMatching MONDO:0850079 non-syndromic bilambdoid craniosynostosis skos:exactMatch UMLS:C5680395 semapv:UnspecifiedMatching MONDO:0850080 non-syndromic unicoronal and sagittal craniosynostosis skos:exactMatch MEDGEN:1842804 semapv:UnspecifiedMatching MONDO:0850080 non-syndromic unicoronal and sagittal craniosynostosis skos:exactMatch Orphanet:620186 Non-syndromic unicoronal and sagittal craniosynostosis semapv:UnspecifiedMatching MONDO:0850080 non-syndromic unicoronal and sagittal craniosynostosis skos:exactMatch UMLS:C5680396 semapv:UnspecifiedMatching MONDO:0850081 non-syndromic metopic and sagittal craniosynostosis skos:exactMatch MEDGEN:1842791 semapv:UnspecifiedMatching MONDO:0850081 non-syndromic metopic and sagittal craniosynostosis skos:exactMatch Orphanet:620192 Non-syndromic metopic and sagittal craniosynostosis semapv:UnspecifiedMatching MONDO:0850081 non-syndromic metopic and sagittal craniosynostosis skos:exactMatch UMLS:C5680393 semapv:UnspecifiedMatching MONDO:0850082 non-syndromic bicoronal and metopic craniosynostosis skos:exactMatch MEDGEN:1843005 semapv:UnspecifiedMatching MONDO:0850082 non-syndromic bicoronal and metopic craniosynostosis skos:exactMatch Orphanet:620198 Non-syndromic bicoronal and metopic craniosynostosis semapv:UnspecifiedMatching MONDO:0850082 non-syndromic bicoronal and metopic craniosynostosis skos:exactMatch UMLS:C5680394 semapv:UnspecifiedMatching MONDO:0850083 non-syndromic bicoronal and sagittal craniosynostosis skos:exactMatch MEDGEN:1842401 semapv:UnspecifiedMatching MONDO:0850083 non-syndromic bicoronal and sagittal craniosynostosis skos:exactMatch Orphanet:620205 Non-syndromic bicoronal and sagittal craniosynostosis semapv:UnspecifiedMatching MONDO:0850083 non-syndromic bicoronal and sagittal craniosynostosis skos:exactMatch UMLS:C5680391 semapv:UnspecifiedMatching MONDO:0850084 non-syndromic pansynostosis skos:exactMatch MEDGEN:1843220 semapv:UnspecifiedMatching MONDO:0850084 non-syndromic pansynostosis skos:exactMatch Orphanet:620212 Non-syndromic pansynostosis semapv:UnspecifiedMatching MONDO:0850084 non-syndromic pansynostosis skos:exactMatch UMLS:C5680392 semapv:UnspecifiedMatching MONDO:0850087 primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome skos:exactMatch MEDGEN:1842330 semapv:UnspecifiedMatching MONDO:0850087 primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome skos:exactMatch Orphanet:620363 Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome semapv:UnspecifiedMatching MONDO:0850087 primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome skos:exactMatch UMLS:C5681826 semapv:UnspecifiedMatching MONDO:0850088 EGF-related primary hypomagnesemia with intellectual disability skos:exactMatch MEDGEN:1843381 semapv:UnspecifiedMatching MONDO:0850088 EGF-related primary hypomagnesemia with intellectual disability skos:exactMatch Orphanet:620368 EGF-related primary hypomagnesemia with intellectual disability semapv:UnspecifiedMatching MONDO:0850088 EGF-related primary hypomagnesemia with intellectual disability skos:exactMatch UMLS:C5681825 semapv:UnspecifiedMatching MONDO:0850089 Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation skos:exactMatch MEDGEN:1843117 semapv:UnspecifiedMatching MONDO:0850089 Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation skos:exactMatch Orphanet:620371 Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation semapv:UnspecifiedMatching MONDO:0850089 Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation skos:exactMatch UMLS:C5680390 semapv:UnspecifiedMatching MONDO:0850092 post-cardiac arrest syndrome skos:exactMatch DOID:0070306 post-cardiac arrest syndrome semapv:UnspecifiedMatching MONDO:0850092 post-cardiac arrest syndrome skos:exactMatch MEDGEN:1672555 semapv:UnspecifiedMatching MONDO:0850092 post-cardiac arrest syndrome skos:exactMatch UMLS:C4285706 semapv:UnspecifiedMatching MONDO:0850093 obsolete absence epilepsy skos:exactMatch DOID:0070309 absence epilepsy semapv:UnspecifiedMatching MONDO:0850094 drug-induced hearing loss skos:exactMatch DOID:0070310 drug-induced hearing loss semapv:UnspecifiedMatching MONDO:0850095 X-linked severe syndromic thoracic aortic aneurysm and dissection skos:exactMatch Orphanet:622925 X-linked severe syndromic thoracic aortic aneurysm and dissection semapv:UnspecifiedMatching MONDO:0850096 SBDS-related severe neonatal spondylometaphyseal dysplasia skos:exactMatch MEDGEN:1843152 semapv:UnspecifiedMatching MONDO:0850096 SBDS-related severe neonatal spondylometaphyseal dysplasia skos:exactMatch Orphanet:622934 SBDS-related severe neonatal spondylometaphyseal dysplasia semapv:UnspecifiedMatching MONDO:0850096 SBDS-related severe neonatal spondylometaphyseal dysplasia skos:exactMatch UMLS:C5680412 semapv:UnspecifiedMatching MONDO:0850097 autoimmune limbic encephalitis skos:exactMatch MEDGEN:419645 semapv:UnspecifiedMatching MONDO:0850097 autoimmune limbic encephalitis skos:exactMatch Orphanet:623615 Autoimmune limbic encephalitis semapv:UnspecifiedMatching MONDO:0850097 autoimmune limbic encephalitis skos:exactMatch UMLS:C2930824 semapv:UnspecifiedMatching MONDO:0850097 autoimmune limbic encephalitis skos:exactMatch icd11.foundation:1254443511 Autoimmune limbic encephalitis semapv:UnspecifiedMatching MONDO:0850098 oligoasthenoteratozoospermia skos:exactMatch DOID:0070311 oligoasthenoteratozoospermia semapv:UnspecifiedMatching MONDO:0850099 MIR140-related spondyloepiphyseal dysplasia skos:exactMatch MEDGEN:1842455 semapv:UnspecifiedMatching MONDO:0850099 MIR140-related spondyloepiphyseal dysplasia skos:exactMatch Orphanet:623695 MIR140-related spondyloepiphyseal dysplasia semapv:UnspecifiedMatching MONDO:0850099 MIR140-related spondyloepiphyseal dysplasia skos:exactMatch UMLS:C5680411 semapv:UnspecifiedMatching MONDO:0850100 body integrity dysphoria skos:exactMatch MEDGEN:1626910 semapv:UnspecifiedMatching MONDO:0850100 body integrity dysphoria skos:exactMatch Orphanet:623789 Body integrity dysphoria semapv:UnspecifiedMatching MONDO:0850100 body integrity dysphoria skos:exactMatch UMLS:C4546282 semapv:UnspecifiedMatching MONDO:0850100 body integrity dysphoria skos:exactMatch icd11.foundation:256572629 Body integrity dysphoria semapv:UnspecifiedMatching MONDO:0850101 spitzoid melanoma skos:exactMatch DOID:0070326 spitzoid melanoma semapv:UnspecifiedMatching MONDO:0850101 spitzoid melanoma skos:exactMatch MEDGEN:1713307 semapv:UnspecifiedMatching MONDO:0850101 spitzoid melanoma skos:exactMatch NCIT:C165497 Cutaneous Spitz Melanoma semapv:UnspecifiedMatching MONDO:0850101 spitzoid melanoma skos:exactMatch UMLS:C3495721 semapv:UnspecifiedMatching MONDO:0850102 non-specific autoimmune supratentorial encephalitis with characteristic antibodies skos:exactMatch MEDGEN:1842219 semapv:UnspecifiedMatching MONDO:0850102 non-specific autoimmune supratentorial encephalitis with characteristic antibodies skos:exactMatch Orphanet:624166 Non-specific autoimmune supratentorial encephalitis with characteristic antibodies semapv:UnspecifiedMatching MONDO:0850102 non-specific autoimmune supratentorial encephalitis with characteristic antibodies skos:exactMatch UMLS:C5680408 semapv:UnspecifiedMatching MONDO:0850103 non-specific autoimmune supratentorial encephalitis without characteristic antibodies skos:exactMatch MEDGEN:1843156 semapv:UnspecifiedMatching MONDO:0850103 non-specific autoimmune supratentorial encephalitis without characteristic antibodies skos:exactMatch Orphanet:624178 Non-specific autoimmune supratentorial encephalitis without characteristic antibodies semapv:UnspecifiedMatching MONDO:0850103 non-specific autoimmune supratentorial encephalitis without characteristic antibodies skos:exactMatch UMLS:C5680409 semapv:UnspecifiedMatching MONDO:0850104 paraneoplastic isolated brainstem encephalitis skos:exactMatch MEDGEN:1842767 semapv:UnspecifiedMatching MONDO:0850104 paraneoplastic isolated brainstem encephalitis skos:exactMatch Orphanet:624190 Paraneoplastic isolated brainstem encephalitis semapv:UnspecifiedMatching MONDO:0850104 paraneoplastic isolated brainstem encephalitis skos:exactMatch UMLS:C5680406 semapv:UnspecifiedMatching MONDO:0850105 non-specific autoimmune brainstem encephalitis with characteristic antibodies skos:exactMatch MEDGEN:1842903 semapv:UnspecifiedMatching MONDO:0850105 non-specific autoimmune brainstem encephalitis with characteristic antibodies skos:exactMatch Orphanet:624199 Non-specific autoimmune brainstem encephalitis with characteristic antibodies semapv:UnspecifiedMatching MONDO:0850105 non-specific autoimmune brainstem encephalitis with characteristic antibodies skos:exactMatch UMLS:C5680405 semapv:UnspecifiedMatching MONDO:0850106 non-specific autoimmune brainstem encephalitis without characteristic antibodies skos:exactMatch MEDGEN:1843231 semapv:UnspecifiedMatching MONDO:0850106 non-specific autoimmune brainstem encephalitis without characteristic antibodies skos:exactMatch Orphanet:624216 Non-specific autoimmune brainstem encephalitis without characteristic antibodies semapv:UnspecifiedMatching MONDO:0850106 non-specific autoimmune brainstem encephalitis without characteristic antibodies skos:exactMatch UMLS:C5680407 semapv:UnspecifiedMatching MONDO:0850107 postinfectious cerebellitis skos:exactMatch MEDGEN:1843009 semapv:UnspecifiedMatching MONDO:0850107 postinfectious cerebellitis skos:exactMatch Orphanet:624244 Postinfectious cerebellitis semapv:UnspecifiedMatching MONDO:0850107 postinfectious cerebellitis skos:exactMatch UMLS:C5575321 semapv:UnspecifiedMatching MONDO:0850108 non-specific autoimmune cerebellar ataxia with characteristic antibodies skos:exactMatch MEDGEN:1842300 semapv:UnspecifiedMatching MONDO:0850108 non-specific autoimmune cerebellar ataxia with characteristic antibodies skos:exactMatch Orphanet:624259 Non-specific autoimmune cerebellar ataxia with characteristic antibodies semapv:UnspecifiedMatching MONDO:0850108 non-specific autoimmune cerebellar ataxia with characteristic antibodies skos:exactMatch UMLS:C5680404 semapv:UnspecifiedMatching MONDO:0850109 non-specific autoimmune cerebellar ataxia without characteristic antibodies skos:exactMatch MEDGEN:1843044 semapv:UnspecifiedMatching MONDO:0850109 non-specific autoimmune cerebellar ataxia without characteristic antibodies skos:exactMatch Orphanet:624268 Non-specific autoimmune cerebellar ataxia without characteristic antibodies semapv:UnspecifiedMatching MONDO:0850109 non-specific autoimmune cerebellar ataxia without characteristic antibodies skos:exactMatch UMLS:C5576703 semapv:UnspecifiedMatching MONDO:0850110 melanoma in congenital melanocytic nevus skos:exactMatch DOID:0070327 melanoma in congenital melanocytic nevus semapv:UnspecifiedMatching MONDO:0850110 melanoma in congenital melanocytic nevus skos:exactMatch MEDGEN:313976 semapv:UnspecifiedMatching MONDO:0850110 melanoma in congenital melanocytic nevus skos:exactMatch NCIT:C48613 Melanoma Arising in Congenital Melanocytic Nevus semapv:UnspecifiedMatching MONDO:0850110 melanoma in congenital melanocytic nevus skos:exactMatch UMLS:C1711221 semapv:UnspecifiedMatching MONDO:0850112 breast implant-associated anaplastic large cell lymphoma skos:exactMatch DOID:0070333 breast implant-associated anaplastic large cell lymphoma semapv:UnspecifiedMatching MONDO:0850112 breast implant-associated anaplastic large cell lymphoma skos:exactMatch MEDGEN:1611347 semapv:UnspecifiedMatching MONDO:0850112 breast implant-associated anaplastic large cell lymphoma skos:exactMatch NCIT:C139012 Breast Implant-Associated Anaplastic Large Cell Lymphoma semapv:UnspecifiedMatching MONDO:0850112 breast implant-associated anaplastic large cell lymphoma skos:exactMatch Orphanet:667662 Breast implant-associated anaplastic large cell lymphoma semapv:UnspecifiedMatching MONDO:0850112 breast implant-associated anaplastic large cell lymphoma skos:exactMatch UMLS:C4528210 semapv:UnspecifiedMatching MONDO:0850112 breast implant-associated anaplastic large cell lymphoma skos:exactMatch icd11.foundation:1216213663 Breast implant-associated anaplastic large cell lymphoma semapv:UnspecifiedMatching MONDO:0850115 early-onset obesity-hyperphagia-severe developmental delay syndrome skos:exactMatch Orphanet:99704 Early-onset obesity-hyperphagia-severe developmental delay syndrome semapv:UnspecifiedMatching MONDO:0850122 solid adenocarcinoma with mucin production skos:exactMatch DOID:0080306 solid adenocarcinoma with mucin production semapv:UnspecifiedMatching MONDO:0850123 autonomic nervous system benign neoplasm skos:exactMatch DOID:0080321 autonomic nervous system benign neoplasm semapv:UnspecifiedMatching MONDO:0850125 malignant adenoma skos:exactMatch DOID:0080364 malignant adenoma semapv:UnspecifiedMatching MONDO:0850126 testicular sex cord-stromal benign neoplasm skos:exactMatch DOID:0080371 testicular sex cord-stromal benign neoplasm semapv:UnspecifiedMatching MONDO:0850127 epithelioid inflammatory myofibroblastic sarcoma skos:exactMatch DOID:0080372 epithelioid inflammatory myofibroblastic sarcoma semapv:UnspecifiedMatching MONDO:0850127 epithelioid inflammatory myofibroblastic sarcoma skos:exactMatch MEDGEN:1843877 semapv:UnspecifiedMatching MONDO:0850127 epithelioid inflammatory myofibroblastic sarcoma skos:exactMatch UMLS:C5880506 semapv:UnspecifiedMatching MONDO:0850128 epididymis disease skos:exactMatch DOID:0080373 epididymis disease semapv:UnspecifiedMatching MONDO:0850129 gastroesophageal cancer skos:exactMatch DOID:0080374 gastroesophageal cancer semapv:UnspecifiedMatching MONDO:0850129 gastroesophageal cancer skos:exactMatch MEDGEN:577508 semapv:UnspecifiedMatching MONDO:0850129 gastroesophageal cancer skos:exactMatch UMLS:C0346619 semapv:UnspecifiedMatching MONDO:0850130 gastroesophageal adenocarcinoma skos:exactMatch DOID:0080375 gastroesophageal adenocarcinoma semapv:UnspecifiedMatching MONDO:0850144 germ cell benign neoplasm skos:exactMatch DOID:0080601 germ cell benign neoplasm semapv:UnspecifiedMatching MONDO:0850144 germ cell benign neoplasm skos:exactMatch MEDGEN:272358 semapv:UnspecifiedMatching MONDO:0850144 germ cell benign neoplasm skos:exactMatch NCIT:C6449 Benign Germ Cell Tumor semapv:UnspecifiedMatching MONDO:0850144 germ cell benign neoplasm skos:exactMatch UMLS:C1332505 semapv:UnspecifiedMatching MONDO:0850149 nephroma skos:exactMatch DOID:0080615 nephroma semapv:UnspecifiedMatching MONDO:0850150 kidney cortex disease skos:exactMatch DOID:0080616 kidney cortex disease semapv:UnspecifiedMatching MONDO:0850151 lymph node carcinoma skos:exactMatch DOID:0080618 lymph node carcinoma semapv:UnspecifiedMatching MONDO:0850152 auditory system benign neoplasm skos:exactMatch DOID:0080619 auditory system benign neoplasm semapv:UnspecifiedMatching MONDO:0850154 tongue carcinoma skos:exactMatch DOID:0080641 tongue carcinoma semapv:UnspecifiedMatching MONDO:0850154 tongue carcinoma skos:exactMatch MEDGEN:154320 semapv:UnspecifiedMatching MONDO:0850154 tongue carcinoma skos:exactMatch NCIT:C4824 Tongue Carcinoma semapv:UnspecifiedMatching MONDO:0850154 tongue carcinoma skos:exactMatch UMLS:C0558353 semapv:UnspecifiedMatching MONDO:0850156 B-lymphoblastic leukemia/lymphoma MLL rearranged skos:exactMatch DOID:0080644 B-lymphoblastic leukemia/lymphoma MLL rearranged semapv:UnspecifiedMatching MONDO:0850157 B-lymphoblastic leukemia/lymphoma with ETV6-RUNX1 skos:exactMatch DOID:0080645 B-lymphoblastic leukemia/lymphoma with ETV6-RUNX1 semapv:UnspecifiedMatching MONDO:0850160 B-lymphoblastic leukemia/lymphoma with IL3-IGH skos:exactMatch DOID:0080648 B-lymphoblastic leukemia/lymphoma with IGH::IL3 fusion semapv:UnspecifiedMatching MONDO:0850161 B-lymphoblastic leukemia/lymphoma, BCR-ABL1–like skos:exactMatch DOID:0080650 B-lymphoblastic leukemia/lymphoma, BCR-ABL1–like semapv:UnspecifiedMatching MONDO:0850161 B-lymphoblastic leukemia/lymphoma, BCR-ABL1–like skos:exactMatch NCIT:C129787 B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like semapv:UnspecifiedMatching MONDO:0850162 B-lymphoblastic leukemia/lymphoma with IAMP21 skos:exactMatch DOID:0080651 B-lymphoblastic leukemia/lymphoma with iAMP21 semapv:UnspecifiedMatching MONDO:0850162 B-lymphoblastic leukemia/lymphoma with IAMP21 skos:exactMatch NCIT:C130039 B Lymphoblastic Leukemia/Lymphoma with Intrachromosomal Amplification of Chromosome 21 semapv:UnspecifiedMatching MONDO:0850170 spinal muscular atrophy type 0 skos:exactMatch DOID:0080667 spinal muscular atrophy type 0 semapv:UnspecifiedMatching MONDO:0850170 spinal muscular atrophy type 0 skos:exactMatch MEDGEN:1843403 semapv:UnspecifiedMatching MONDO:0850170 spinal muscular atrophy type 0 skos:exactMatch UMLS:C4324643 semapv:UnspecifiedMatching MONDO:0850196 medulloblastoma WNT activated skos:exactMatch DOID:0080702 medulloblastoma WNT activated semapv:UnspecifiedMatching MONDO:0850196 medulloblastoma WNT activated skos:exactMatch MEDGEN:1392356 semapv:UnspecifiedMatching MONDO:0850196 medulloblastoma WNT activated skos:exactMatch NCIT:C129440 Medulloblastoma, WNT-Activated semapv:UnspecifiedMatching MONDO:0850196 medulloblastoma WNT activated skos:exactMatch UMLS:C4331965 semapv:UnspecifiedMatching MONDO:0850197 medulloblastoma SHH activated skos:exactMatch DOID:0080703 medulloblastoma SHH activated semapv:UnspecifiedMatching MONDO:0850197 medulloblastoma SHH activated skos:exactMatch MEDGEN:1375478 semapv:UnspecifiedMatching MONDO:0850197 medulloblastoma SHH activated skos:exactMatch NCIT:C129441 Medulloblastoma, SHH-Activated semapv:UnspecifiedMatching MONDO:0850197 medulloblastoma SHH activated skos:exactMatch UMLS:C4330671 semapv:UnspecifiedMatching MONDO:0850198 medulloblastoma non-WNT/non-SHH skos:exactMatch DOID:0080706 medulloblastoma non-WNT/non-SHH semapv:UnspecifiedMatching MONDO:0850198 medulloblastoma non-WNT/non-SHH skos:exactMatch MEDGEN:1387799 semapv:UnspecifiedMatching MONDO:0850198 medulloblastoma non-WNT/non-SHH skos:exactMatch NCIT:C129444 Medulloblastoma, Non-WNT/Non-SHH semapv:UnspecifiedMatching MONDO:0850198 medulloblastoma non-WNT/non-SHH skos:exactMatch UMLS:C4330667 semapv:UnspecifiedMatching MONDO:0850199 NK cell deficiency skos:exactMatch DOID:0080709 NK cell deficiency semapv:UnspecifiedMatching MONDO:0850199 NK cell deficiency skos:exactMatch MEDGEN:1644714 semapv:UnspecifiedMatching MONDO:0850199 NK cell deficiency skos:exactMatch UMLS:C4693357 semapv:UnspecifiedMatching MONDO:0850200 T cell and NK cell immunodeficiency skos:exactMatch DOID:0080710 T cell and NK cell immunodeficiency semapv:UnspecifiedMatching MONDO:0850201 hereditary alpha tryptasemia syndrome skos:exactMatch DOID:0080714 hereditary alpha tryptasemia syndrome semapv:UnspecifiedMatching MONDO:0850201 hereditary alpha tryptasemia syndrome skos:exactMatch MEDGEN:1797172 semapv:UnspecifiedMatching MONDO:0850201 hereditary alpha tryptasemia syndrome skos:exactMatch UMLS:C5565749 semapv:UnspecifiedMatching MONDO:0850223 Libman-Sacks endocarditis skos:exactMatch DOID:0080740 Libman-Sacks endocarditis semapv:UnspecifiedMatching MONDO:0850223 Libman-Sacks endocarditis skos:exactMatch MEDGEN:69175 semapv:UnspecifiedMatching MONDO:0850223 Libman-Sacks endocarditis skos:exactMatch UMLS:C0242380 semapv:UnspecifiedMatching MONDO:0850225 autoimmune cholangitis skos:exactMatch DOID:0080742 autoimmune cholangitis semapv:UnspecifiedMatching MONDO:0850225 autoimmune cholangitis skos:exactMatch MEDGEN:881331 semapv:UnspecifiedMatching MONDO:0850225 autoimmune cholangitis skos:exactMatch UMLS:C4075851 semapv:UnspecifiedMatching MONDO:0850230 chronic urticaria skos:exactMatch DOID:0080747 chronic urticaria semapv:UnspecifiedMatching MONDO:0850230 chronic urticaria skos:exactMatch MEDGEN:537829 semapv:UnspecifiedMatching MONDO:0850230 chronic urticaria skos:exactMatch UMLS:C0263338 semapv:UnspecifiedMatching MONDO:0850230 chronic urticaria skos:exactMatch icd11.foundation:901000137 Chronic urticaria semapv:UnspecifiedMatching MONDO:0850231 erythema nodosum skos:exactMatch DOID:0080750 erythema nodosum semapv:UnspecifiedMatching MONDO:0850231 erythema nodosum skos:exactMatch ICD10CM:L52 Erythema nodosum semapv:UnspecifiedMatching MONDO:0850231 erythema nodosum skos:exactMatch ICD10WHO:L52 Erythema nodosum semapv:UnspecifiedMatching MONDO:0850231 erythema nodosum skos:exactMatch MEDGEN:41858 semapv:UnspecifiedMatching MONDO:0850231 erythema nodosum skos:exactMatch UMLS:C0014743 semapv:UnspecifiedMatching MONDO:0850231 erythema nodosum skos:exactMatch icd11.foundation:1628519266 Erythema nodosum semapv:UnspecifiedMatching MONDO:0850257 mucinous pancreas adenocarcinoma skos:exactMatch DOID:0080782 mucinous pancreas adenocarcinoma semapv:UnspecifiedMatching MONDO:0850267 childhood acute megakaryoblastic leukemia skos:exactMatch DOID:0080794 childhood acute megakaryoblastic leukemia semapv:UnspecifiedMatching MONDO:0850267 childhood acute megakaryoblastic leukemia skos:exactMatch MEDGEN:79023 semapv:UnspecifiedMatching MONDO:0850267 childhood acute megakaryoblastic leukemia skos:exactMatch NCIT:C7972 Childhood Acute Megakaryoblastic Leukemia semapv:UnspecifiedMatching MONDO:0850267 childhood acute megakaryoblastic leukemia skos:exactMatch UMLS:C0279650 semapv:UnspecifiedMatching MONDO:0850269 core binding factor acute myeloid leukemia skos:exactMatch DOID:0080796 core binding factor acute myeloid leukemia semapv:UnspecifiedMatching MONDO:0850269 core binding factor acute myeloid leukemia skos:exactMatch MEDGEN:825586 semapv:UnspecifiedMatching MONDO:0850269 core binding factor acute myeloid leukemia skos:exactMatch NCIT:C122688 Core Binding Factor Acute Myeloid Leukemia semapv:UnspecifiedMatching MONDO:0850269 core binding factor acute myeloid leukemia skos:exactMatch UMLS:C3839741 semapv:UnspecifiedMatching MONDO:0850271 myeloid leukemia associated with down syndrome skos:exactMatch DOID:0080798 myeloid leukemia associated with Down Syndrome semapv:UnspecifiedMatching MONDO:0850271 myeloid leukemia associated with down syndrome skos:exactMatch MEDGEN:416725 semapv:UnspecifiedMatching MONDO:0850271 myeloid leukemia associated with down syndrome skos:exactMatch NCIT:C43223 Myeloid Leukemia Associated with Down Syndrome semapv:UnspecifiedMatching MONDO:0850271 myeloid leukemia associated with down syndrome skos:exactMatch UMLS:C2825149 semapv:UnspecifiedMatching MONDO:0850273 salivary gland mucinous adenocarcinoma skos:exactMatch DOID:0080800 salivary gland mucinous adenocarcinoma semapv:UnspecifiedMatching MONDO:0850273 salivary gland mucinous adenocarcinoma skos:exactMatch MEDGEN:364330 semapv:UnspecifiedMatching MONDO:0850273 salivary gland mucinous adenocarcinoma skos:exactMatch NCIT:C62193 Salivary Gland Mucinous Adenocarcinoma semapv:UnspecifiedMatching MONDO:0850273 salivary gland mucinous adenocarcinoma skos:exactMatch UMLS:C1882973 semapv:UnspecifiedMatching MONDO:0850281 mammary analog secretory carcinoma skos:exactMatch DOID:0080808 mammary analogue secretory carcinoma semapv:UnspecifiedMatching MONDO:0850281 mammary analog secretory carcinoma skos:exactMatch MEDGEN:875770 semapv:UnspecifiedMatching MONDO:0850281 mammary analog secretory carcinoma skos:exactMatch NCIT:C123384 Salivary Gland Secretory Carcinoma semapv:UnspecifiedMatching MONDO:0850281 mammary analog secretory carcinoma skos:exactMatch UMLS:C4042906 semapv:UnspecifiedMatching MONDO:0850282 chronic asthma skos:exactMatch DOID:0080809 chronic asthma semapv:UnspecifiedMatching MONDO:0850282 chronic asthma skos:exactMatch MEDGEN:1843404 semapv:UnspecifiedMatching MONDO:0850282 chronic asthma skos:exactMatch UMLS:C0877430 semapv:UnspecifiedMatching MONDO:0850283 acute asthma skos:exactMatch DOID:0080810 acute asthma semapv:UnspecifiedMatching MONDO:0850283 acute asthma skos:exactMatch MEDGEN:578946 semapv:UnspecifiedMatching MONDO:0850283 acute asthma skos:exactMatch UMLS:C0349790 semapv:UnspecifiedMatching MONDO:0850284 extrinsic asthma skos:exactMatch DOID:0080811 extrinsic asthma semapv:UnspecifiedMatching MONDO:0850285 environmental induced asthma skos:exactMatch DOID:0080819 environmental induced asthma semapv:UnspecifiedMatching MONDO:0850286 exercise-induced bronchoconstriction skos:exactMatch DOID:0080821 exercise-induced bronchoconstriction semapv:UnspecifiedMatching MONDO:0850286 exercise-induced bronchoconstriction skos:exactMatch MEDGEN:4606 semapv:UnspecifiedMatching MONDO:0850286 exercise-induced bronchoconstriction skos:exactMatch UMLS:C0015263 semapv:UnspecifiedMatching MONDO:0850287 aspirin-induced respiratory disease skos:exactMatch DOID:0080822 aspirin-induced respiratory disease semapv:UnspecifiedMatching MONDO:0850289 human betaherpesvirus 5 infectious disease skos:exactMatch DOID:0080827 human cytomegalovirus infection semapv:UnspecifiedMatching MONDO:0850292 subjective cognitive decline skos:exactMatch DOID:0080831 subjective cognitive decline semapv:UnspecifiedMatching MONDO:0850295 acquired laryngomalacia skos:exactMatch DOID:0080834 acquired laryngomalacia semapv:UnspecifiedMatching MONDO:0850295 acquired laryngomalacia skos:exactMatch MEDGEN:1762305 semapv:UnspecifiedMatching MONDO:0850295 acquired laryngomalacia skos:exactMatch UMLS:C5437619 semapv:UnspecifiedMatching MONDO:0850295 acquired laryngomalacia skos:exactMatch icd11.foundation:1224426540 Acquired laryngomalacia semapv:UnspecifiedMatching MONDO:0850301 pemphigoid skos:exactMatch DOID:0080841 pemphigoid semapv:UnspecifiedMatching MONDO:0850301 pemphigoid skos:exactMatch ICD10CM:L12 Pemphigoid semapv:UnspecifiedMatching MONDO:0850301 pemphigoid skos:exactMatch ICD10WHO:L12 Pemphigoid semapv:UnspecifiedMatching MONDO:0850301 pemphigoid skos:exactMatch SCTID:86142006 semapv:UnspecifiedMatching MONDO:0850301 pemphigoid skos:exactMatch icd11.foundation:445309625 Pemphigoid semapv:UnspecifiedMatching MONDO:0850302 intracranial meningioma skos:exactMatch DOID:0060106 brain meningioma semapv:UnspecifiedMatching MONDO:0850302 intracranial meningioma skos:exactMatch DOID:0080842 intracranial meningioma semapv:UnspecifiedMatching MONDO:0850302 intracranial meningioma skos:exactMatch MEDGEN:83891 semapv:UnspecifiedMatching MONDO:0850302 intracranial meningioma skos:exactMatch NCIT:C4656 Intracranial Meningioma semapv:UnspecifiedMatching MONDO:0850302 intracranial meningioma skos:exactMatch UMLS:C0349604 semapv:UnspecifiedMatching MONDO:0850303 supratentorial meningioma skos:exactMatch DOID:0080843 supratentorial meningioma semapv:UnspecifiedMatching MONDO:0850303 supratentorial meningioma skos:exactMatch MEDGEN:234913 semapv:UnspecifiedMatching MONDO:0850303 supratentorial meningioma skos:exactMatch NCIT:C7048 Supratentorial Meningioma semapv:UnspecifiedMatching MONDO:0850303 supratentorial meningioma skos:exactMatch UMLS:C1336537 semapv:UnspecifiedMatching MONDO:0850306 latent autoimmune diabetes in adults skos:exactMatch DOID:0080846 latent autoimmune diabetes in adults semapv:UnspecifiedMatching MONDO:0850306 latent autoimmune diabetes in adults skos:exactMatch MEDGEN:895261 semapv:UnspecifiedMatching MONDO:0850306 latent autoimmune diabetes in adults skos:exactMatch UMLS:C1739108 semapv:UnspecifiedMatching MONDO:0850306 latent autoimmune diabetes in adults skos:exactMatch icd11.foundation:1918279014 Latent autoimmune diabetes in adults semapv:UnspecifiedMatching MONDO:0850312 anaplastic pleomorphic xanthoastrocytoma skos:exactMatch DOID:0080854 anaplastic pleomorphic xanthoastrocytoma semapv:UnspecifiedMatching MONDO:0850312 anaplastic pleomorphic xanthoastrocytoma skos:exactMatch MEDGEN:924393 semapv:UnspecifiedMatching MONDO:0850312 anaplastic pleomorphic xanthoastrocytoma skos:exactMatch NCIT:C129327 Anaplastic Pleomorphic Xanthoastrocytoma semapv:UnspecifiedMatching MONDO:0850312 anaplastic pleomorphic xanthoastrocytoma skos:exactMatch UMLS:C4283858 semapv:UnspecifiedMatching MONDO:0850332 IDH-mutant anaplastic astrocytoma skos:exactMatch DOID:0080875 IDH-mutant anaplastic astrocytoma semapv:UnspecifiedMatching MONDO:0850333 IDH-wildtype anaplastic astrocytoma skos:exactMatch DOID:0080876 IDH-wildtype anaplastic astrocytoma semapv:UnspecifiedMatching MONDO:0850333 IDH-wildtype anaplastic astrocytoma skos:exactMatch NCIT:C129291 Anaplastic Astrocytoma, IDH-Wildtype semapv:UnspecifiedMatching MONDO:0850335 IDH-wildtype glioblastoma skos:exactMatch DOID:0080878 IDH-wildtype glioblastoma semapv:UnspecifiedMatching MONDO:0850335 IDH-wildtype glioblastoma skos:exactMatch NCIT:C39750 Glioblastoma, IDH-Wildtype semapv:UnspecifiedMatching MONDO:0850338 spinal ependymoma, MYCN-amplified skos:exactMatch DOID:0080888 spinal ependymoma, MYCN-amplified semapv:UnspecifiedMatching MONDO:0850338 spinal ependymoma, MYCN-amplified skos:exactMatch MEDGEN:1806198 semapv:UnspecifiedMatching MONDO:0850338 spinal ependymoma, MYCN-amplified skos:exactMatch NCIT:C186494 Spinal Cord Ependymoma, MYCN Amplified semapv:UnspecifiedMatching MONDO:0850338 spinal ependymoma, MYCN-amplified skos:exactMatch UMLS:C5670583 semapv:UnspecifiedMatching MONDO:0850339 posterior fossa ependymoma skos:exactMatch DOID:0080889 posterior fossa ependymoma semapv:UnspecifiedMatching MONDO:0850339 posterior fossa ependymoma skos:exactMatch MEDGEN:1811888 semapv:UnspecifiedMatching MONDO:0850339 posterior fossa ependymoma skos:exactMatch NCIT:C186443 Posterior Fossa Ependymoma semapv:UnspecifiedMatching MONDO:0850339 posterior fossa ependymoma skos:exactMatch UMLS:C5670542 semapv:UnspecifiedMatching MONDO:0850340 supratentorial ependymoma skos:exactMatch DOID:0080890 supratentorial ependymoma semapv:UnspecifiedMatching MONDO:0850340 supratentorial ependymoma skos:exactMatch MEDGEN:1811811 semapv:UnspecifiedMatching MONDO:0850340 supratentorial ependymoma skos:exactMatch NCIT:C186343 Supratentorial Ependymoma semapv:UnspecifiedMatching MONDO:0850340 supratentorial ependymoma skos:exactMatch UMLS:C5670470 semapv:UnspecifiedMatching MONDO:0850345 lung pleomorphic carcinoma skos:exactMatch DOID:0080899 lung pleomorphic carcinoma semapv:UnspecifiedMatching MONDO:0850345 lung pleomorphic carcinoma skos:exactMatch MEDGEN:314017 semapv:UnspecifiedMatching MONDO:0850345 lung pleomorphic carcinoma skos:exactMatch NCIT:C45542 Lung Pleomorphic Carcinoma semapv:UnspecifiedMatching MONDO:0850345 lung pleomorphic carcinoma skos:exactMatch UMLS:C1711397 semapv:UnspecifiedMatching MONDO:0850346 oral rhabdomyosarcoma skos:exactMatch DOID:0080900 oral rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0850347 bladder sarcomatoid transitional cell carcinoma skos:exactMatch DOID:0080901 bladder sarcomatoid transitional cell carcinoma semapv:UnspecifiedMatching MONDO:0850348 bladder small cell carcinoma skos:exactMatch DOID:0080902 bladder small cell carcinoma semapv:UnspecifiedMatching MONDO:0850349 astroblastoma, MN1-altered skos:exactMatch DOID:0080904 astroblastoma, MN1-altered semapv:UnspecifiedMatching MONDO:0850353 castration-resistant prostate carcinoma skos:exactMatch DOID:0080909 castration-resistant prostate carcinoma semapv:UnspecifiedMatching MONDO:0850353 castration-resistant prostate carcinoma skos:exactMatch MEDGEN:730224 semapv:UnspecifiedMatching MONDO:0850353 castration-resistant prostate carcinoma skos:exactMatch NCIT:C130234 Castration-Resistant Prostate Carcinoma semapv:UnspecifiedMatching MONDO:0850353 castration-resistant prostate carcinoma skos:exactMatch UMLS:C1328504 semapv:UnspecifiedMatching MONDO:0850368 immunoglobulin heavy-and-light chain skos:exactMatch DOID:0080935 immunoglobulin heavy-and-light chain semapv:UnspecifiedMatching MONDO:0850371 nonobstructive coronary artery disease skos:exactMatch DOID:0080938 nonobstructive coronary artery disease semapv:UnspecifiedMatching MONDO:0850388 childhood supratentorial embryonal tumor with multilayered rosettes, C19MC-altered skos:exactMatch DOID:0080956 childhood supratentorial embryonal tumor with multilayered rosettes, C19MC-altered semapv:UnspecifiedMatching MONDO:0850388 childhood supratentorial embryonal tumor with multilayered rosettes, C19MC-altered skos:exactMatch MEDGEN:1375924 semapv:UnspecifiedMatching MONDO:0850388 childhood supratentorial embryonal tumor with multilayered rosettes, C19MC-altered skos:exactMatch NCIT:C6772 Childhood Supratentorial Embryonal Tumor with Multilayered Rosettes, C19MC-Altered semapv:UnspecifiedMatching MONDO:0850388 childhood supratentorial embryonal tumor with multilayered rosettes, C19MC-altered skos:exactMatch UMLS:C4316809 semapv:UnspecifiedMatching MONDO:0850415 rhabdomyolysis-myalgia syndrome skos:exactMatch DOID:0080992 rhabdomyolysis-myalgia syndrome semapv:UnspecifiedMatching MONDO:0850416 autoimmune epilepsy skos:exactMatch DOID:0080994 autoimmune epilepsy semapv:UnspecifiedMatching MONDO:0850417 tuberculous encephalopathy skos:exactMatch DOID:0080995 tuberculous encephalopathy semapv:UnspecifiedMatching MONDO:0850418 diffuse large B-cell lymphoma activated B-cell type skos:exactMatch DOID:0080996 diffuse large B-cell lymphoma activated B-cell type semapv:UnspecifiedMatching MONDO:0850418 diffuse large B-cell lymphoma activated B-cell type skos:exactMatch MEDGEN:272545 semapv:UnspecifiedMatching MONDO:0850418 diffuse large B-cell lymphoma activated B-cell type skos:exactMatch NCIT:C36081 Diffuse Large B-Cell Lymphoma Activated B-Cell Type semapv:UnspecifiedMatching MONDO:0850418 diffuse large B-cell lymphoma activated B-cell type skos:exactMatch UMLS:C1333296 semapv:UnspecifiedMatching MONDO:0850419 diffuse large B-cell lymphoma germinal center B-cell type skos:exactMatch DOID:0080997 diffuse large B-cell lymphoma germinal center B-cell type semapv:UnspecifiedMatching MONDO:0850419 diffuse large B-cell lymphoma germinal center B-cell type skos:exactMatch MEDGEN:234202 semapv:UnspecifiedMatching MONDO:0850419 diffuse large B-cell lymphoma germinal center B-cell type skos:exactMatch NCIT:C36080 Diffuse Large B-Cell Lymphoma Germinal Center B-Cell Type semapv:UnspecifiedMatching MONDO:0850419 diffuse large B-cell lymphoma germinal center B-cell type skos:exactMatch UMLS:C1333295 semapv:UnspecifiedMatching MONDO:0850420 acute necrotizing pancreatitis skos:exactMatch DOID:0080998 acute necrotizing pancreatitis semapv:UnspecifiedMatching MONDO:0850420 acute necrotizing pancreatitis skos:exactMatch MEDGEN:75645 semapv:UnspecifiedMatching MONDO:0850420 acute necrotizing pancreatitis skos:exactMatch UMLS:C0267941 semapv:UnspecifiedMatching MONDO:0850420 acute necrotizing pancreatitis skos:exactMatch icd11.foundation:2063881303 Acute necrotizing pancreatitis semapv:UnspecifiedMatching MONDO:0850421 acute hemorrhagic pancreatitis skos:exactMatch DOID:0080999 acute hemorrhagic pancreatitis semapv:UnspecifiedMatching MONDO:0850421 acute hemorrhagic pancreatitis skos:exactMatch MEDGEN:541079 semapv:UnspecifiedMatching MONDO:0850421 acute hemorrhagic pancreatitis skos:exactMatch UMLS:C0267940 semapv:UnspecifiedMatching MONDO:0850426 high-grade B-cell lymphoma double-hit/triple-hit skos:exactMatch DOID:0081004 high-grade B-cell lymphoma double-hit/triple-hit semapv:UnspecifiedMatching MONDO:0850445 benign peritoneal solitary fibrous tumor skos:exactMatch DOID:0081026 benign peritoneal solitary fibrous tumor semapv:UnspecifiedMatching MONDO:0850449 mixed phenotype acute leukemia with BCR-ABL1 skos:exactMatch DOID:0081036 mixed phenotype acute leukemia with BCR-ABL1 semapv:UnspecifiedMatching MONDO:0850450 mixed phenotype acute leukemia with MLL rearranged skos:exactMatch DOID:0081037 mixed phenotype acute leukemia with MLL rearranged semapv:UnspecifiedMatching MONDO:0850451 mixed phenotype acute leukemia, B/myeloid skos:exactMatch DOID:0081038 mixed phenotype acute leukemia, B/myeloid semapv:UnspecifiedMatching MONDO:0850451 mixed phenotype acute leukemia, B/myeloid skos:exactMatch MEDGEN:501146 semapv:UnspecifiedMatching MONDO:0850451 mixed phenotype acute leukemia, B/myeloid skos:exactMatch NCIT:C82212 Mixed Phenotype Acute Leukemia, B/Myeloid semapv:UnspecifiedMatching MONDO:0850451 mixed phenotype acute leukemia, B/myeloid skos:exactMatch UMLS:C3472616 semapv:UnspecifiedMatching MONDO:0850452 mixed phenotype acute leukemia,T/myeloid skos:exactMatch DOID:0081039 mixed phenotype acute leukemia, T/myeloid semapv:UnspecifiedMatching MONDO:0850452 mixed phenotype acute leukemia,T/myeloid skos:exactMatch NCIT:C82213 Mixed Phenotype Acute Leukemia, T/Myeloid semapv:UnspecifiedMatching MONDO:0850459 primary cutaneous gamma-delta t-cell lymphoma skos:exactMatch DOID:0081050 primary cutaneous gamma-delta T-cell lymphoma semapv:UnspecifiedMatching MONDO:0850459 primary cutaneous gamma-delta t-cell lymphoma skos:exactMatch MEDGEN:313069 semapv:UnspecifiedMatching MONDO:0850459 primary cutaneous gamma-delta t-cell lymphoma skos:exactMatch NCIT:C45340 Primary Cutaneous Gamma-Delta T-Cell Lymphoma semapv:UnspecifiedMatching MONDO:0850459 primary cutaneous gamma-delta t-cell lymphoma skos:exactMatch UMLS:C1707547 semapv:UnspecifiedMatching MONDO:0850461 neurobehavioral disorder with prenatal alcohol exposure skos:exactMatch DOID:0081052 neurobehavioral disorder with prenatal alcohol exposure semapv:UnspecifiedMatching MONDO:0850468 BN2 diffuse large B-cell lymphoma skos:exactMatch DOID:0081064 BN2 diffuse large B-cell lymphoma semapv:UnspecifiedMatching MONDO:0850468 BN2 diffuse large B-cell lymphoma skos:exactMatch MEDGEN:1650982 semapv:UnspecifiedMatching MONDO:0850468 BN2 diffuse large B-cell lymphoma skos:exactMatch NCIT:C148395 BN2 Diffuse Large B-Cell Lymphoma semapv:UnspecifiedMatching MONDO:0850468 BN2 diffuse large B-cell lymphoma skos:exactMatch UMLS:C4725003 semapv:UnspecifiedMatching MONDO:0850469 EZB diffuse large B-cell lymphoma skos:exactMatch DOID:0081065 EZB diffuse large B-cell lymphoma semapv:UnspecifiedMatching MONDO:0850469 EZB diffuse large B-cell lymphoma skos:exactMatch MEDGEN:1653316 semapv:UnspecifiedMatching MONDO:0850469 EZB diffuse large B-cell lymphoma skos:exactMatch NCIT:C148398 EZB Diffuse Large B-Cell Lymphoma semapv:UnspecifiedMatching MONDO:0850469 EZB diffuse large B-cell lymphoma skos:exactMatch UMLS:C4725006 semapv:UnspecifiedMatching MONDO:0850470 MCD diffuse large B-cell lymphoma skos:exactMatch DOID:0081066 MCD diffuse large B-cell lymphoma semapv:UnspecifiedMatching MONDO:0850470 MCD diffuse large B-cell lymphoma skos:exactMatch MEDGEN:1669702 semapv:UnspecifiedMatching MONDO:0850470 MCD diffuse large B-cell lymphoma skos:exactMatch NCIT:C148394 MCD Diffuse Large B-Cell Lymphoma semapv:UnspecifiedMatching MONDO:0850470 MCD diffuse large B-cell lymphoma skos:exactMatch UMLS:C4725002 semapv:UnspecifiedMatching MONDO:0850471 N1 diffuse large B-cell lymphoma skos:exactMatch DOID:0081067 N1 diffuse large B-cell lymphoma semapv:UnspecifiedMatching MONDO:0850471 N1 diffuse large B-cell lymphoma skos:exactMatch MEDGEN:1650336 semapv:UnspecifiedMatching MONDO:0850471 N1 diffuse large B-cell lymphoma skos:exactMatch NCIT:C148396 N1 Diffuse Large B-Cell Lymphoma semapv:UnspecifiedMatching MONDO:0850471 N1 diffuse large B-cell lymphoma skos:exactMatch UMLS:C4725004 semapv:UnspecifiedMatching MONDO:0850472 ST2 diffuse large B-cell lymphoma skos:exactMatch DOID:0081068 ST2 diffuse large B-cell lymphoma semapv:UnspecifiedMatching MONDO:0850472 ST2 diffuse large B-cell lymphoma skos:exactMatch MEDGEN:1815989 semapv:UnspecifiedMatching MONDO:0850472 ST2 diffuse large B-cell lymphoma skos:exactMatch NCIT:C187445 ST2 Diffuse Large B-Cell Lymphoma semapv:UnspecifiedMatching MONDO:0850472 ST2 diffuse large B-cell lymphoma skos:exactMatch UMLS:C5707084 semapv:UnspecifiedMatching MONDO:0850473 A53 diffuse large B-cell lymphoma skos:exactMatch DOID:0081069 A53 diffuse large B-cell lymphoma semapv:UnspecifiedMatching MONDO:0850473 A53 diffuse large B-cell lymphoma skos:exactMatch MEDGEN:1815990 semapv:UnspecifiedMatching MONDO:0850473 A53 diffuse large B-cell lymphoma skos:exactMatch NCIT:C187447 A53 Diffuse Large B-Cell Lymphoma semapv:UnspecifiedMatching MONDO:0850473 A53 diffuse large B-cell lymphoma skos:exactMatch UMLS:C5707085 semapv:UnspecifiedMatching MONDO:0850492 acute myeloid leukemia, t(8;21)(q22; q22.1) skos:exactMatch DOID:0081093 acute myeloid leukemia with t(8;21); (q22; q22.1) semapv:UnspecifiedMatching MONDO:0850495 acute myeloid leukemia, t(1;22)(p13;q13) skos:exactMatch DOID:0081096 acute myeloid leukemia with t(1;22)(p13;q13) semapv:UnspecifiedMatching MONDO:0850514 inclusion body myopathy and brain white matter abnormalities skos:exactMatch DOID:0081121 inclusion body myopathy and brain white matter abnormalities semapv:UnspecifiedMatching MONDO:0850514 inclusion body myopathy and brain white matter abnormalities skos:exactMatch MEDGEN:1812978 semapv:UnspecifiedMatching MONDO:0850514 inclusion body myopathy and brain white matter abnormalities skos:exactMatch OMIM:619733 inclusion body myopathy and brain white matter abnormalities semapv:UnspecifiedMatching MONDO:0850514 inclusion body myopathy and brain white matter abnormalities skos:exactMatch UMLS:C5676909 semapv:UnspecifiedMatching MONDO:0850519 tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia skos:exactMatch DOID:0081132 tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia semapv:UnspecifiedMatching MONDO:0850618 injection anthrax skos:exactMatch DOID:0081239 injection anthrax semapv:UnspecifiedMatching MONDO:0850812 dendritic cell deficiency skos:exactMatch DOID:0111963 dendritic cell deficiency semapv:UnspecifiedMatching MONDO:0850812 dendritic cell deficiency skos:exactMatch MEDGEN:1656300 semapv:UnspecifiedMatching MONDO:0850812 dendritic cell deficiency skos:exactMatch UMLS:C4746814 semapv:UnspecifiedMatching MONDO:0851095 KINSSHIP syndrome skos:exactMatch DOID:0112383 KINSSHIP syndrome semapv:UnspecifiedMatching MONDO:0851095 KINSSHIP syndrome skos:exactMatch MEDGEN:1779339 semapv:UnspecifiedMatching MONDO:0851095 KINSSHIP syndrome skos:exactMatch OMIM:619297 kinsship syndrome semapv:UnspecifiedMatching MONDO:0851095 KINSSHIP syndrome skos:exactMatch UMLS:C5543317 semapv:UnspecifiedMatching MONDO:0851100 malignant olfactory nerve neoplasm skos:exactMatch DOID:370 malignant olfactory nerve neoplasm semapv:UnspecifiedMatching MONDO:0851100 malignant olfactory nerve neoplasm skos:exactMatch MEDGEN:105419 semapv:UnspecifiedMatching MONDO:0851100 malignant olfactory nerve neoplasm skos:exactMatch NCIT:C4768 Malignant Olfactory Nerve Neoplasm semapv:UnspecifiedMatching MONDO:0851100 malignant olfactory nerve neoplasm skos:exactMatch UMLS:C0496838 semapv:UnspecifiedMatching MONDO:0851102 pulmonary artery disease skos:exactMatch DOID:60001 pulmonary artery disease semapv:UnspecifiedMatching MONDO:0851103 Bartholin's gland disease skos:exactMatch DOID:60002 Bartholin's gland disease semapv:UnspecifiedMatching MONDO:0851103 Bartholin's gland disease skos:exactMatch MEDGEN:635229 semapv:UnspecifiedMatching MONDO:0851103 Bartholin's gland disease skos:exactMatch UMLS:C0477776 semapv:UnspecifiedMatching MONDO:0851105 cerebrovascular benign neoplasm skos:exactMatch DOID:60007 cerebrovascular benign neoplasm semapv:UnspecifiedMatching MONDO:0858910 dropped head syndrome skos:exactMatch DOID:0060034 dropped head syndrome semapv:UnspecifiedMatching MONDO:0858910 dropped head syndrome skos:exactMatch MEDGEN:757938 semapv:UnspecifiedMatching MONDO:0858910 dropped head syndrome skos:exactMatch UMLS:C3266164 semapv:UnspecifiedMatching MONDO:0858916 pituitary blastoma skos:exactMatch DOID:0081244 pituitary blastoma semapv:UnspecifiedMatching MONDO:0858916 pituitary blastoma skos:exactMatch MEDGEN:1656462 semapv:UnspecifiedMatching MONDO:0858916 pituitary blastoma skos:exactMatch NCIT:C155304 Pituitary Gland Blastoma semapv:UnspecifiedMatching MONDO:0858916 pituitary blastoma skos:exactMatch UMLS:C4743978 semapv:UnspecifiedMatching MONDO:0858917 cauda equina neuroendocrine tumor skos:exactMatch DOID:0081245 cauda equina neuroendocrine tumor semapv:UnspecifiedMatching MONDO:0858917 cauda equina neuroendocrine tumor skos:exactMatch MEDGEN:272437 semapv:UnspecifiedMatching MONDO:0858917 cauda equina neuroendocrine tumor skos:exactMatch NCIT:C5324 Cauda Equina Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO:0858917 cauda equina neuroendocrine tumor skos:exactMatch UMLS:C1332860 semapv:UnspecifiedMatching MONDO:0858921 EWSR1-negative small round cell tumor skos:exactMatch DOID:0081249 EWSR1-negative small round cell tumor semapv:UnspecifiedMatching MONDO:0858921 EWSR1-negative small round cell tumor skos:exactMatch MEDGEN:1714743 semapv:UnspecifiedMatching MONDO:0858921 EWSR1-negative small round cell tumor skos:exactMatch NCIT:C165671 EWSR1-Negative Small Round Cell Tumor semapv:UnspecifiedMatching MONDO:0858921 EWSR1-negative small round cell tumor skos:exactMatch UMLS:C5237359 semapv:UnspecifiedMatching MONDO:0858926 developmental delay, hypotrophy, and dysmorphic features without moebius syndrome skos:exactMatch DOID:0081264 developmental delay, hypotrophy, and dysmorphic features without Moebius syndrome semapv:UnspecifiedMatching MONDO:0858939 diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype skos:exactMatch DOID:0081277 diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype semapv:UnspecifiedMatching MONDO:0858939 diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype skos:exactMatch MEDGEN:1808288 semapv:UnspecifiedMatching MONDO:0858939 diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype skos:exactMatch NCIT:C185467 Diffuse Pediatric-Type High Grade Glioma, H3-Wildtype and IDH-Wildtype semapv:UnspecifiedMatching MONDO:0858939 diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype skos:exactMatch UMLS:C5669918 semapv:UnspecifiedMatching MONDO:0858940 infant-type hemispheric glioma skos:exactMatch DOID:0081278 infant-type hemispheric glioma semapv:UnspecifiedMatching MONDO:0858940 infant-type hemispheric glioma skos:exactMatch MEDGEN:1806401 semapv:UnspecifiedMatching MONDO:0858940 infant-type hemispheric glioma skos:exactMatch NCIT:C185471 Infant-Type Hemispheric Glioma semapv:UnspecifiedMatching MONDO:0858940 infant-type hemispheric glioma skos:exactMatch Orphanet:695136 Infant-type hemispheric glioma semapv:UnspecifiedMatching MONDO:0858940 infant-type hemispheric glioma skos:exactMatch UMLS:C5669919 semapv:UnspecifiedMatching MONDO:0858944 myxoid glioneuronal tumor skos:exactMatch DOID:0081285 myxoid glioneuronal tumor semapv:UnspecifiedMatching MONDO:0858944 myxoid glioneuronal tumor skos:exactMatch MEDGEN:1791986 semapv:UnspecifiedMatching MONDO:0858944 myxoid glioneuronal tumor skos:exactMatch NCIT:C179229 Myxoid Glioneuronal Tumor semapv:UnspecifiedMatching MONDO:0858944 myxoid glioneuronal tumor skos:exactMatch UMLS:C5555545 semapv:UnspecifiedMatching MONDO:0858950 traumatic brain injury skos:exactMatch DOID:0081292 traumatic brain injury semapv:UnspecifiedMatching MONDO:0858956 diffuse leptomeningeal glioneuronal tumor skos:exactMatch DOID:0081302 diffuse leptomeningeal glioneuronal tumor semapv:UnspecifiedMatching MONDO:0858956 diffuse leptomeningeal glioneuronal tumor skos:exactMatch MEDGEN:1391318 semapv:UnspecifiedMatching MONDO:0858956 diffuse leptomeningeal glioneuronal tumor skos:exactMatch NCIT:C129424 Diffuse Leptomeningeal Glioneuronal Tumor semapv:UnspecifiedMatching MONDO:0858956 diffuse leptomeningeal glioneuronal tumor skos:exactMatch UMLS:C4329735 semapv:UnspecifiedMatching MONDO:0858957 multinodular and vacuolating neuronal tumor skos:exactMatch DOID:0081303 multinodular and vacuolating neuronal tumor semapv:UnspecifiedMatching MONDO:0858957 multinodular and vacuolating neuronal tumor skos:exactMatch MEDGEN:1372723 semapv:UnspecifiedMatching MONDO:0858957 multinodular and vacuolating neuronal tumor skos:exactMatch NCIT:C129427 Multinodular and Vacuolated Neuronal Tumor semapv:UnspecifiedMatching MONDO:0858957 multinodular and vacuolating neuronal tumor skos:exactMatch UMLS:C4330721 semapv:UnspecifiedMatching MONDO:0858958 high-grade astrocytoma with piloid features skos:exactMatch DOID:0081304 high-grade astrocytoma with piloid features semapv:UnspecifiedMatching MONDO:0858958 high-grade astrocytoma with piloid features skos:exactMatch MEDGEN:1812304 semapv:UnspecifiedMatching MONDO:0858958 high-grade astrocytoma with piloid features skos:exactMatch NCIT:C185879 High Grade Astrocytoma with Piloid Features semapv:UnspecifiedMatching MONDO:0858958 high-grade astrocytoma with piloid features skos:exactMatch UMLS:C5670122 semapv:UnspecifiedMatching MONDO:0858959 polymorphous low grade neuroepithelial tumor of the young skos:exactMatch DOID:0081305 polymorphous low grade neuroepithelial tumour of the young semapv:UnspecifiedMatching MONDO:0858959 polymorphous low grade neuroepithelial tumor of the young skos:exactMatch MEDGEN:1792771 semapv:UnspecifiedMatching MONDO:0858959 polymorphous low grade neuroepithelial tumor of the young skos:exactMatch NCIT:C180378 Polymorphous Low Grade Neuroepithelial Tumor of the Young semapv:UnspecifiedMatching MONDO:0858959 polymorphous low grade neuroepithelial tumor of the young skos:exactMatch UMLS:C5556330 semapv:UnspecifiedMatching MONDO:0858960 spindle cell oncocytoma skos:exactMatch DOID:0081306 spindle cell oncocytoma semapv:UnspecifiedMatching MONDO:0858960 spindle cell oncocytoma skos:exactMatch MEDGEN:458787 semapv:UnspecifiedMatching MONDO:0858960 spindle cell oncocytoma skos:exactMatch NCIT:C94537 Spindle Cell Oncocytoma semapv:UnspecifiedMatching MONDO:0858960 spindle cell oncocytoma skos:exactMatch UMLS:C2986561 semapv:UnspecifiedMatching MONDO:0858966 central nervous system tumor with bcor internal tandem duplication skos:exactMatch DOID:0081315 central nervous system tumor with BCOR internal tandem duplication semapv:UnspecifiedMatching MONDO:0858966 central nervous system tumor with bcor internal tandem duplication skos:exactMatch MEDGEN:1811171 semapv:UnspecifiedMatching MONDO:0858966 central nervous system tumor with bcor internal tandem duplication skos:exactMatch NCIT:C186556 Central Nervous System Tumor with BCOR Internal Tandem Duplication semapv:UnspecifiedMatching MONDO:0858966 central nervous system tumor with bcor internal tandem duplication skos:exactMatch UMLS:C5670630 semapv:UnspecifiedMatching MONDO:0858967 primary intracranial sarcoma, DICER1-mutant skos:exactMatch DOID:0081316 primary intracranial sarcoma, DICER1-mutant semapv:UnspecifiedMatching MONDO:0858967 primary intracranial sarcoma, DICER1-mutant skos:exactMatch MEDGEN:1805730 semapv:UnspecifiedMatching MONDO:0858967 primary intracranial sarcoma, DICER1-mutant skos:exactMatch NCIT:C186610 Primary Intracranial Sarcoma, DICER1-Mutant semapv:UnspecifiedMatching MONDO:0858967 primary intracranial sarcoma, DICER1-mutant skos:exactMatch UMLS:C5670660 semapv:UnspecifiedMatching MONDO:0858974 breast implant illness skos:exactMatch DOID:0081323 breast implant illness semapv:UnspecifiedMatching MONDO:0858997 cancer of unknown primary site skos:exactMatch MEDGEN:10298 semapv:UnspecifiedMatching MONDO:0858997 cancer of unknown primary site skos:exactMatch NCIT:C8566 Malignant Neoplasm of Unknown Primary semapv:UnspecifiedMatching MONDO:0858997 cancer of unknown primary site skos:exactMatch Orphanet:631251 Cancer of unknown primary site semapv:UnspecifiedMatching MONDO:0858997 cancer of unknown primary site skos:exactMatch UMLS:C0027667 semapv:UnspecifiedMatching MONDO:0858998 mesomelic dysplasia-digital anomalies-intellectual disability syndrome skos:exactMatch MEDGEN:1843408 semapv:UnspecifiedMatching MONDO:0858998 mesomelic dysplasia-digital anomalies-intellectual disability syndrome skos:exactMatch Orphanet:632603 Mesomelic dysplasia-digital anomalies-intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0858998 mesomelic dysplasia-digital anomalies-intellectual disability syndrome skos:exactMatch UMLS:C5816803 semapv:UnspecifiedMatching MONDO:0858999 KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome skos:exactMatch Orphanet:633004 KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome semapv:UnspecifiedMatching MONDO:0859000 SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome skos:exactMatch MEDGEN:1843423 semapv:UnspecifiedMatching MONDO:0859000 SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome skos:exactMatch Orphanet:633014 SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome semapv:UnspecifiedMatching MONDO:0859000 SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome skos:exactMatch UMLS:C5816806 semapv:UnspecifiedMatching MONDO:0859002 intellectual disability-early-onset cataract-microcephaly syndrome skos:exactMatch Orphanet:633035 Intellectual disability-early-onset cataract-microcephaly syndrome semapv:UnspecifiedMatching MONDO:0859003 PAICS deficiency skos:exactMatch Orphanet:633099 PAICS deficiency semapv:UnspecifiedMatching MONDO:0859004 invasive scopulariopsis infection skos:exactMatch MEDGEN:1843422 semapv:UnspecifiedMatching MONDO:0859004 invasive scopulariopsis infection skos:exactMatch Orphanet:633124 Invasive scopulariopsis infection semapv:UnspecifiedMatching MONDO:0859004 invasive scopulariopsis infection skos:exactMatch UMLS:C5816808 semapv:UnspecifiedMatching MONDO:0859005 preaxial digit brachydactyly-webbed fingers skos:exactMatch MEDGEN:1843425 semapv:UnspecifiedMatching MONDO:0859005 preaxial digit brachydactyly-webbed fingers skos:exactMatch Orphanet:633211 Preaxial digit brachydactyly-webbed fingers semapv:UnspecifiedMatching MONDO:0859005 preaxial digit brachydactyly-webbed fingers skos:exactMatch UMLS:C5816807 semapv:UnspecifiedMatching MONDO:0859006 proximal femoral focal deficiency skos:exactMatch MEDGEN:609280 semapv:UnspecifiedMatching MONDO:0859006 proximal femoral focal deficiency skos:exactMatch Orphanet:633228 Isolated proximal femoral focal deficiency semapv:UnspecifiedMatching MONDO:0859006 proximal femoral focal deficiency skos:exactMatch UMLS:C0431996 semapv:UnspecifiedMatching MONDO:0859007 mosaic Legius syndrome skos:exactMatch MEDGEN:1843406 semapv:UnspecifiedMatching MONDO:0859007 mosaic Legius syndrome skos:exactMatch Orphanet:634511 Mosaic Legius syndrome semapv:UnspecifiedMatching MONDO:0859007 mosaic Legius syndrome skos:exactMatch UMLS:C5816780 semapv:UnspecifiedMatching MONDO:0859008 mosaic neurofibromatosis/schwannomatosis skos:exactMatch MEDGEN:1843398 semapv:UnspecifiedMatching MONDO:0859008 mosaic neurofibromatosis/schwannomatosis skos:exactMatch Orphanet:634518 Neurofibromatosis/schwannomatosis semapv:UnspecifiedMatching MONDO:0859008 mosaic neurofibromatosis/schwannomatosis skos:exactMatch UMLS:C5816781 semapv:UnspecifiedMatching MONDO:0859046 rhabdomyosarcoma, embryonal, 2 skos:exactMatch MEDGEN:357232 semapv:UnspecifiedMatching MONDO:0859046 rhabdomyosarcoma, embryonal, 2 skos:exactMatch OMIM:180295 rhabdomyosarcoma, embryonal, 2 semapv:UnspecifiedMatching MONDO:0859046 rhabdomyosarcoma, embryonal, 2 skos:exactMatch UMLS:C1867234 semapv:UnspecifiedMatching MONDO:0859050 Schistosoma mansoni infection, susceptibility/resistance to skos:exactMatch MEDGEN:401132 semapv:UnspecifiedMatching MONDO:0859050 Schistosoma mansoni infection, susceptibility/resistance to skos:exactMatch OMIM:181460 schistosoma mansoni infection, susceptibility/resistance to semapv:UnspecifiedMatching MONDO:0859050 Schistosoma mansoni infection, susceptibility/resistance to skos:exactMatch UMLS:C1866993 semapv:UnspecifiedMatching MONDO:0859080 intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies skos:exactMatch MEDGEN:1794140 semapv:UnspecifiedMatching MONDO:0859080 intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies skos:exactMatch OMIM:301066 intellectual developmental disorder, x-linked, syndromic, with pigmentary mosaicism and coarse facies semapv:UnspecifiedMatching MONDO:0859080 intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies skos:exactMatch UMLS:C5561930 semapv:UnspecifiedMatching MONDO:0859081 chromosome Xq13 duplication syndrome skos:exactMatch MEDGEN:1809227 semapv:UnspecifiedMatching MONDO:0859081 chromosome Xq13 duplication syndrome skos:exactMatch OMIM:301069 chromosome xq13 duplication syndrome semapv:UnspecifiedMatching MONDO:0859081 chromosome Xq13 duplication syndrome skos:exactMatch UMLS:C5677057 semapv:UnspecifiedMatching MONDO:0859082 thrombophilia, X-linked, due to factor 8 defect skos:exactMatch MEDGEN:1805414 semapv:UnspecifiedMatching MONDO:0859082 thrombophilia, X-linked, due to factor 8 defect skos:exactMatch OMIM:301071 thrombophilia, x-linked, due to factor 8 defect semapv:UnspecifiedMatching MONDO:0859082 thrombophilia, X-linked, due to factor 8 defect skos:exactMatch UMLS:C5676879 semapv:UnspecifiedMatching MONDO:0859083 systemic lupus erythematosus 17 skos:exactMatch MEDGEN:1804329 semapv:UnspecifiedMatching MONDO:0859083 systemic lupus erythematosus 17 skos:exactMatch OMIM:301080 systemic lupus erythematosus 17 semapv:UnspecifiedMatching MONDO:0859083 systemic lupus erythematosus 17 skos:exactMatch UMLS:C5676884 semapv:UnspecifiedMatching MONDO:0859085 neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked skos:exactMatch MEDGEN:1823953 semapv:UnspecifiedMatching MONDO:0859085 neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked skos:exactMatch OMIM:301094 hijazi-reis syndrome semapv:UnspecifiedMatching MONDO:0859085 neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked skos:exactMatch UMLS:C5774179 semapv:UnspecifiedMatching MONDO:0859086 intellectual developmental disorder, X-linked 110 skos:exactMatch MEDGEN:1823954 semapv:UnspecifiedMatching MONDO:0859086 intellectual developmental disorder, X-linked 110 skos:exactMatch OMIM:301095 intellectual developmental disorder, X-linked 110 semapv:UnspecifiedMatching MONDO:0859086 intellectual developmental disorder, X-linked 110 skos:exactMatch UMLS:C5774180 semapv:UnspecifiedMatching MONDO:0859136 Alzahrani-Kuwahara syndrome skos:exactMatch MEDGEN:1782127 semapv:UnspecifiedMatching MONDO:0859136 Alzahrani-Kuwahara syndrome skos:exactMatch OMIM:619268 alzahrani-kuwahara syndrome semapv:UnspecifiedMatching MONDO:0859136 Alzahrani-Kuwahara syndrome skos:exactMatch UMLS:C5543274 semapv:UnspecifiedMatching MONDO:0859137 neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia skos:exactMatch MEDGEN:1781371 semapv:UnspecifiedMatching MONDO:0859137 neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia skos:exactMatch OMIM:619286 neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia semapv:UnspecifiedMatching MONDO:0859137 neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia skos:exactMatch UMLS:C5543306 semapv:UnspecifiedMatching MONDO:0859139 blepharophimosis-impaired intellectual development syndrome skos:exactMatch DOID:0081442 blepharophimosis-impaired intellectual development syndrome semapv:UnspecifiedMatching MONDO:0859139 blepharophimosis-impaired intellectual development syndrome skos:exactMatch MEDGEN:1779966 semapv:UnspecifiedMatching MONDO:0859139 blepharophimosis-impaired intellectual development syndrome skos:exactMatch OMIM:619293 blepharophimosis-impaired intellectual development syndrome semapv:UnspecifiedMatching MONDO:0859139 blepharophimosis-impaired intellectual development syndrome skos:exactMatch Orphanet:637013 SMARCA2-related blepharophimosis-intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0859139 blepharophimosis-impaired intellectual development syndrome skos:exactMatch UMLS:C5443984 semapv:UnspecifiedMatching MONDO:0859141 neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia skos:exactMatch MEDGEN:1786150 semapv:UnspecifiedMatching MONDO:0859141 neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia skos:exactMatch OMIM:619306 neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia semapv:UnspecifiedMatching MONDO:0859141 neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia skos:exactMatch UMLS:C5543332 semapv:UnspecifiedMatching MONDO:0859142 Hiatt-Neu-Cooper neurodevelopmental syndrome skos:exactMatch MEDGEN:1785187 semapv:UnspecifiedMatching MONDO:0859142 Hiatt-Neu-Cooper neurodevelopmental syndrome skos:exactMatch OMIM:619311 hiatt-neu-cooper neurodevelopmental syndrome semapv:UnspecifiedMatching MONDO:0859142 Hiatt-Neu-Cooper neurodevelopmental syndrome skos:exactMatch UMLS:C5543338 semapv:UnspecifiedMatching MONDO:0859143 Radio-Tartaglia syndrome skos:exactMatch MEDGEN:1778557 semapv:UnspecifiedMatching MONDO:0859143 Radio-Tartaglia syndrome skos:exactMatch OMIM:619312 radio-tartaglia syndrome semapv:UnspecifiedMatching MONDO:0859143 Radio-Tartaglia syndrome skos:exactMatch Orphanet:662234 Neurodevelopmental delay-congenital heart defects-intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0859143 Radio-Tartaglia syndrome skos:exactMatch UMLS:C5543339 semapv:UnspecifiedMatching MONDO:0859144 Buratti-Harel syndrome skos:exactMatch MEDGEN:1788293 semapv:UnspecifiedMatching MONDO:0859144 Buratti-Harel syndrome skos:exactMatch OMIM:619314 buratti-harel syndrome semapv:UnspecifiedMatching MONDO:0859144 Buratti-Harel syndrome skos:exactMatch UMLS:C5543351 semapv:UnspecifiedMatching MONDO:0859146 growth restriction, hypoplastic kidneys, alopecia, and distinctive facies skos:exactMatch MEDGEN:1784590 semapv:UnspecifiedMatching MONDO:0859146 growth restriction, hypoplastic kidneys, alopecia, and distinctive facies skos:exactMatch OMIM:619321 growth restriction, hypoplastic kidneys, alopecia, and distinctive facies semapv:UnspecifiedMatching MONDO:0859146 growth restriction, hypoplastic kidneys, alopecia, and distinctive facies skos:exactMatch UMLS:C5543375 semapv:UnspecifiedMatching MONDO:0859147 Marbach-Rustad progeroid syndrome skos:exactMatch MEDGEN:1784907 semapv:UnspecifiedMatching MONDO:0859147 Marbach-Rustad progeroid syndrome skos:exactMatch OMIM:619322 marbach-rustad progeroid syndrome semapv:UnspecifiedMatching MONDO:0859147 Marbach-Rustad progeroid syndrome skos:exactMatch Orphanet:659873 Wormian bones-micrognathia-abnormal dentition-progeroid syndrome semapv:UnspecifiedMatching MONDO:0859147 Marbach-Rustad progeroid syndrome skos:exactMatch UMLS:C5543388 semapv:UnspecifiedMatching MONDO:0859148 neurodevelopmental disorder with seizures and gingival overgrowth skos:exactMatch DOID:0070651 neurodevelopmental disorder with seizures and gingival overgrowth semapv:UnspecifiedMatching MONDO:0859148 neurodevelopmental disorder with seizures and gingival overgrowth skos:exactMatch MEDGEN:1784299 semapv:UnspecifiedMatching MONDO:0859148 neurodevelopmental disorder with seizures and gingival overgrowth skos:exactMatch OMIM:619323 neurodevelopmental disorder with seizures and gingival overgrowth semapv:UnspecifiedMatching MONDO:0859148 neurodevelopmental disorder with seizures and gingival overgrowth skos:exactMatch UMLS:C5543395 semapv:UnspecifiedMatching MONDO:0859149 hypertriglyceridemia 2 skos:exactMatch MEDGEN:1783778 semapv:UnspecifiedMatching MONDO:0859149 hypertriglyceridemia 2 skos:exactMatch OMIM:619324 hypertriglyceridemia 2 semapv:UnspecifiedMatching MONDO:0859149 hypertriglyceridemia 2 skos:exactMatch UMLS:C5543398 semapv:UnspecifiedMatching MONDO:0859150 BDV syndrome skos:exactMatch MEDGEN:1785671 semapv:UnspecifiedMatching MONDO:0859150 BDV syndrome skos:exactMatch OMIM:619326 bdv syndrome semapv:UnspecifiedMatching MONDO:0859150 BDV syndrome skos:exactMatch Orphanet:633028 CPE-related Prader-Willi-like syndrome semapv:UnspecifiedMatching MONDO:0859150 BDV syndrome skos:exactMatch UMLS:C5543403 semapv:UnspecifiedMatching MONDO:0859151 fibromuscular dysplasia, multifocal skos:exactMatch MEDGEN:1778238 semapv:UnspecifiedMatching MONDO:0859151 fibromuscular dysplasia, multifocal skos:exactMatch OMIM:619329 fibromuscular dysplasia, multifocal semapv:UnspecifiedMatching MONDO:0859151 fibromuscular dysplasia, multifocal skos:exactMatch UMLS:C5543412 semapv:UnspecifiedMatching MONDO:0859152 neurodevelopmental disorder with cerebellar atrophy and motor dysfunction skos:exactMatch DOID:0070443 neurodevelopmental disorder with cerebellar atrophy and motor dysfunction semapv:UnspecifiedMatching MONDO:0859152 neurodevelopmental disorder with cerebellar atrophy and motor dysfunction skos:exactMatch MEDGEN:1781936 semapv:UnspecifiedMatching MONDO:0859152 neurodevelopmental disorder with cerebellar atrophy and motor dysfunction skos:exactMatch OMIM:619333 neurodevelopmental disorder with cerebellar atrophy and motor dysfunction semapv:UnspecifiedMatching MONDO:0859152 neurodevelopmental disorder with cerebellar atrophy and motor dysfunction skos:exactMatch UMLS:C5543427 semapv:UnspecifiedMatching MONDO:0859154 Bartsocas-Papas syndrome 2 skos:exactMatch MEDGEN:1778443 semapv:UnspecifiedMatching MONDO:0859154 Bartsocas-Papas syndrome 2 skos:exactMatch OMIM:619339 bartsocas-papas syndrome 2 semapv:UnspecifiedMatching MONDO:0859154 Bartsocas-Papas syndrome 2 skos:exactMatch UMLS:C5543445 semapv:UnspecifiedMatching MONDO:0859155 chromosome 1p36 deletion syndrome, proximal skos:exactMatch MEDGEN:1794324 semapv:UnspecifiedMatching MONDO:0859155 chromosome 1p36 deletion syndrome, proximal skos:exactMatch OMIM:619343 chromosome 1p36 deletion syndrome, proximal semapv:UnspecifiedMatching MONDO:0859155 chromosome 1p36 deletion syndrome, proximal skos:exactMatch UMLS:C5562114 semapv:UnspecifiedMatching MONDO:0859156 dysostosis multiplex, Ain-Naz type skos:exactMatch MEDGEN:1780944 semapv:UnspecifiedMatching MONDO:0859156 dysostosis multiplex, Ain-Naz type skos:exactMatch OMIM:619345 dysostosis multiplex, ain-naz type semapv:UnspecifiedMatching MONDO:0859156 dysostosis multiplex, Ain-Naz type skos:exactMatch UMLS:C5444223 semapv:UnspecifiedMatching MONDO:0859157 visceral myopathy 2 skos:exactMatch MEDGEN:1783630 semapv:UnspecifiedMatching MONDO:0859157 visceral myopathy 2 skos:exactMatch OMIM:619350 visceral myopathy 2 semapv:UnspecifiedMatching MONDO:0859157 visceral myopathy 2 skos:exactMatch UMLS:C5543466 semapv:UnspecifiedMatching MONDO:0859158 ataxia, intention tremor, and hypotonia syndrome, childhood-onset skos:exactMatch MEDGEN:1787902 semapv:UnspecifiedMatching MONDO:0859158 ataxia, intention tremor, and hypotonia syndrome, childhood-onset skos:exactMatch OMIM:619352 ataxia, intention tremor, and hypotonia syndrome, childhood-onset semapv:UnspecifiedMatching MONDO:0859158 ataxia, intention tremor, and hypotonia syndrome, childhood-onset skos:exactMatch UMLS:C5543478 semapv:UnspecifiedMatching MONDO:0859159 deafness, cataract, impaired intellectual development, and polyneuropathy skos:exactMatch MEDGEN:1781637 semapv:UnspecifiedMatching MONDO:0859159 deafness, cataract, impaired intellectual development, and polyneuropathy skos:exactMatch OMIM:619354 deafness, cataract, impaired intellectual development, and polyneuropathy semapv:UnspecifiedMatching MONDO:0859159 deafness, cataract, impaired intellectual development, and polyneuropathy skos:exactMatch UMLS:C5543482 semapv:UnspecifiedMatching MONDO:0859160 mitochondrial complex IV deficiency, nuclear type 22 skos:exactMatch DOID:0070507 mitochondrial complex IV deficiency nuclear type 22 semapv:UnspecifiedMatching MONDO:0859160 mitochondrial complex IV deficiency, nuclear type 22 skos:exactMatch MEDGEN:1786100 semapv:UnspecifiedMatching MONDO:0859160 mitochondrial complex IV deficiency, nuclear type 22 skos:exactMatch OMIM:619355 mitochondrial complex 4 deficiency, nuclear type 22 semapv:UnspecifiedMatching MONDO:0859160 mitochondrial complex IV deficiency, nuclear type 22 skos:exactMatch UMLS:C5543491 semapv:UnspecifiedMatching MONDO:0859161 onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome skos:exactMatch MEDGEN:1788511 semapv:UnspecifiedMatching MONDO:0859161 onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome skos:exactMatch OMIM:619356 onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome semapv:UnspecifiedMatching MONDO:0859161 onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome skos:exactMatch UMLS:C5543496 semapv:UnspecifiedMatching MONDO:0859162 neurodevelopmental disorder with infantile epileptic spasms skos:exactMatch MEDGEN:1781627 semapv:UnspecifiedMatching MONDO:0859162 neurodevelopmental disorder with infantile epileptic spasms skos:exactMatch OMIM:619373 neurodevelopmental disorder with infantile epileptic spasms semapv:UnspecifiedMatching MONDO:0859162 neurodevelopmental disorder with infantile epileptic spasms skos:exactMatch UMLS:C5543538 semapv:UnspecifiedMatching MONDO:0859163 Faundes-Banka syndrome skos:exactMatch MEDGEN:1782083 semapv:UnspecifiedMatching MONDO:0859163 Faundes-Banka syndrome skos:exactMatch OMIM:619376 faundes-banka syndrome semapv:UnspecifiedMatching MONDO:0859163 Faundes-Banka syndrome skos:exactMatch UMLS:C5543554 semapv:UnspecifiedMatching MONDO:0859164 osteootohepatoenteric syndrome skos:exactMatch MEDGEN:1785846 semapv:UnspecifiedMatching MONDO:0859164 osteootohepatoenteric syndrome skos:exactMatch OMIM:619377 osteootohepatoenteric syndrome semapv:UnspecifiedMatching MONDO:0859164 osteootohepatoenteric syndrome skos:exactMatch UMLS:C5543557 semapv:UnspecifiedMatching MONDO:0859165 neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities skos:exactMatch MEDGEN:1780615 semapv:UnspecifiedMatching MONDO:0859165 neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities skos:exactMatch OMIM:619383 neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities semapv:UnspecifiedMatching MONDO:0859165 neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities skos:exactMatch UMLS:C5543591 semapv:UnspecifiedMatching MONDO:0859166 visceral leiomyopathy, African degenerative skos:exactMatch MEDGEN:1781444 semapv:UnspecifiedMatching MONDO:0859166 visceral leiomyopathy, African degenerative skos:exactMatch OMIM:619400 visceral leiomyopathy, african degenerative semapv:UnspecifiedMatching MONDO:0859166 visceral leiomyopathy, African degenerative skos:exactMatch UMLS:C5443983 semapv:UnspecifiedMatching MONDO:0859167 hypokalemic tubulopathy and deafness skos:exactMatch MEDGEN:1785163 semapv:UnspecifiedMatching MONDO:0859167 hypokalemic tubulopathy and deafness skos:exactMatch OMIM:619406 hypokalemic tubulopathy and deafness semapv:UnspecifiedMatching MONDO:0859167 hypokalemic tubulopathy and deafness skos:exactMatch UMLS:C5543621 semapv:UnspecifiedMatching MONDO:0859168 myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy skos:exactMatch DOID:0051044 infantile-onset myofibrillar myopathy 12 with cardiomyopathy semapv:UnspecifiedMatching MONDO:0859168 myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy skos:exactMatch MEDGEN:1794147 semapv:UnspecifiedMatching MONDO:0859168 myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy skos:exactMatch OMIM:619424 myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy semapv:UnspecifiedMatching MONDO:0859168 myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy skos:exactMatch UMLS:C5561937 semapv:UnspecifiedMatching MONDO:0859169 White-Kernohan syndrome skos:exactMatch MEDGEN:1785087 semapv:UnspecifiedMatching MONDO:0859169 White-Kernohan syndrome skos:exactMatch OMIM:619426 white-kernohan syndrome semapv:UnspecifiedMatching MONDO:0859169 White-Kernohan syndrome skos:exactMatch UMLS:C5543635 semapv:UnspecifiedMatching MONDO:0859170 retinal dystrophy and microvillus inclusion disease skos:exactMatch MEDGEN:1794153 semapv:UnspecifiedMatching MONDO:0859170 retinal dystrophy and microvillus inclusion disease skos:exactMatch OMIM:619446 retinal dystrophy and microvillus inclusion disease semapv:UnspecifiedMatching MONDO:0859170 retinal dystrophy and microvillus inclusion disease skos:exactMatch UMLS:C5561943 semapv:UnspecifiedMatching MONDO:0859171 Luo-Schoch-Yamamoto syndrome skos:exactMatch DOID:0070416 Luo-Schoch-Yamamoto syndrome semapv:UnspecifiedMatching MONDO:0859171 Luo-Schoch-Yamamoto syndrome skos:exactMatch MEDGEN:1794156 semapv:UnspecifiedMatching MONDO:0859171 Luo-Schoch-Yamamoto syndrome skos:exactMatch OMIM:619460 luo-schoch-yamamoto syndrome semapv:UnspecifiedMatching MONDO:0859171 Luo-Schoch-Yamamoto syndrome skos:exactMatch UMLS:C5561946 semapv:UnspecifiedMatching MONDO:0859172 hemolytic disease of fetus and newborn, RH-induced skos:exactMatch MEDGEN:1789316 semapv:UnspecifiedMatching MONDO:0859172 hemolytic disease of fetus and newborn, RH-induced skos:exactMatch OMIM:619462 hemolytic disease of fetus and newborn, rh-induced semapv:UnspecifiedMatching MONDO:0859172 hemolytic disease of fetus and newborn, RH-induced skos:exactMatch UMLS:C0748400 semapv:UnspecifiedMatching MONDO:0859173 sick sinus syndrome 4 skos:exactMatch MEDGEN:1794159 semapv:UnspecifiedMatching MONDO:0859173 sick sinus syndrome 4 skos:exactMatch OMIM:619464 sick sinus syndrome 4 semapv:UnspecifiedMatching MONDO:0859173 sick sinus syndrome 4 skos:exactMatch UMLS:C5561949 semapv:UnspecifiedMatching MONDO:0859174 Usmani-Riazuddin syndrome, autosomal dominant skos:exactMatch MEDGEN:1794162 semapv:UnspecifiedMatching MONDO:0859174 Usmani-Riazuddin syndrome, autosomal dominant skos:exactMatch OMIM:619467 usmani-riazuddin syndrome, autosomal dominant semapv:UnspecifiedMatching MONDO:0859174 Usmani-Riazuddin syndrome, autosomal dominant skos:exactMatch UMLS:C5561952 semapv:UnspecifiedMatching MONDO:0859175 nephronophthisis-like nephropathy 2 skos:exactMatch MEDGEN:1794163 semapv:UnspecifiedMatching MONDO:0859175 nephronophthisis-like nephropathy 2 skos:exactMatch OMIM:619468 nephronophthisis-like nephropathy 2 semapv:UnspecifiedMatching MONDO:0859175 nephronophthisis-like nephropathy 2 skos:exactMatch UMLS:C5561953 semapv:UnspecifiedMatching MONDO:0859176 neurodevelopmental disorder with motor and speech delay and behavioral abnormalities skos:exactMatch MEDGEN:1794164 semapv:UnspecifiedMatching MONDO:0859176 neurodevelopmental disorder with motor and speech delay and behavioral abnormalities skos:exactMatch OMIM:619470 neurodevelopmental disorder with motor and speech delay and behavioral abnormalities semapv:UnspecifiedMatching MONDO:0859176 neurodevelopmental disorder with motor and speech delay and behavioral abnormalities skos:exactMatch UMLS:C5561954 semapv:UnspecifiedMatching MONDO:0859177 VISS syndrome skos:exactMatch MEDGEN:1794165 semapv:UnspecifiedMatching MONDO:0859177 VISS syndrome skos:exactMatch OMIM:619472 VISS syndrome semapv:UnspecifiedMatching MONDO:0859177 VISS syndrome skos:exactMatch UMLS:C5561955 semapv:UnspecifiedMatching MONDO:0859178 developmental delay, impaired speech, and behavioral abnormalities skos:exactMatch MEDGEN:1794167 semapv:UnspecifiedMatching MONDO:0859178 developmental delay, impaired speech, and behavioral abnormalities skos:exactMatch OMIM:619475 developmental delay, impaired speech, and behavioral abnormalities semapv:UnspecifiedMatching MONDO:0859178 developmental delay, impaired speech, and behavioral abnormalities skos:exactMatch UMLS:C5561957 semapv:UnspecifiedMatching MONDO:0859179 neurodevelopmental disorder with dysmorphic facies and thin corpus callosum skos:exactMatch DOID:0070469 neurodevelopmental disorder with dysmorphic facies and thin corpus callosum semapv:UnspecifiedMatching MONDO:0859179 neurodevelopmental disorder with dysmorphic facies and thin corpus callosum skos:exactMatch MEDGEN:1790413 semapv:UnspecifiedMatching MONDO:0859179 neurodevelopmental disorder with dysmorphic facies and thin corpus callosum skos:exactMatch OMIM:619480 neurodevelopmental disorder with dysmorphic facies and thin corpus callosum semapv:UnspecifiedMatching MONDO:0859179 neurodevelopmental disorder with dysmorphic facies and thin corpus callosum skos:exactMatch UMLS:C5551361 semapv:UnspecifiedMatching MONDO:0859180 bile acid malabsorption, primary, 2 skos:exactMatch MEDGEN:1794172 semapv:UnspecifiedMatching MONDO:0859180 bile acid malabsorption, primary, 2 skos:exactMatch OMIM:619481 bile acid malabsorption, primary, 2 semapv:UnspecifiedMatching MONDO:0859180 bile acid malabsorption, primary, 2 skos:exactMatch UMLS:C5561962 semapv:UnspecifiedMatching MONDO:0859181 DEGCAGS syndrome skos:exactMatch MEDGEN:1794177 semapv:UnspecifiedMatching MONDO:0859181 DEGCAGS syndrome skos:exactMatch OMIM:619488 DEGCAGS syndrome semapv:UnspecifiedMatching MONDO:0859181 DEGCAGS syndrome skos:exactMatch UMLS:C5561967 semapv:UnspecifiedMatching MONDO:0859182 Short stature, Dauber-Argente type skos:exactMatch MEDGEN:1794178 semapv:UnspecifiedMatching MONDO:0859182 Short stature, Dauber-Argente type skos:exactMatch OMIM:619489 short stature, dauber-argente type semapv:UnspecifiedMatching MONDO:0859182 Short stature, Dauber-Argente type skos:exactMatch UMLS:C5561968 semapv:UnspecifiedMatching MONDO:0859183 Parkinson disease 24, autosomal dominant, susceptibility to skos:exactMatch MEDGEN:1794179 semapv:UnspecifiedMatching MONDO:0859183 Parkinson disease 24, autosomal dominant, susceptibility to skos:exactMatch OMIM:619491 parkinson disease 24, autosomal dominant, susceptibility to semapv:UnspecifiedMatching MONDO:0859183 Parkinson disease 24, autosomal dominant, susceptibility to skos:exactMatch UMLS:C5561969 semapv:UnspecifiedMatching MONDO:0859184 ventriculomegaly and arthrogryposis skos:exactMatch MEDGEN:1794183 semapv:UnspecifiedMatching MONDO:0859184 ventriculomegaly and arthrogryposis skos:exactMatch OMIM:619501 ventriculomegaly and arthrogryposis semapv:UnspecifiedMatching MONDO:0859184 ventriculomegaly and arthrogryposis skos:exactMatch UMLS:C5561973 semapv:UnspecifiedMatching MONDO:0859185 neurodevelopmental disorder with hypotonia and dysmorphic facies skos:exactMatch MEDGEN:1794184 semapv:UnspecifiedMatching MONDO:0859185 neurodevelopmental disorder with hypotonia and dysmorphic facies skos:exactMatch OMIM:619503 neurodevelopmental disorder with hypotonia and dysmorphic facies semapv:UnspecifiedMatching MONDO:0859185 neurodevelopmental disorder with hypotonia and dysmorphic facies skos:exactMatch UMLS:C5561974 semapv:UnspecifiedMatching MONDO:0859186 Chopra-Amiel-Gordon syndrome skos:exactMatch MEDGEN:1794185 semapv:UnspecifiedMatching MONDO:0859186 Chopra-Amiel-Gordon syndrome skos:exactMatch OMIM:619504 chopra-amiel-gordon syndrome semapv:UnspecifiedMatching MONDO:0859186 Chopra-Amiel-Gordon syndrome skos:exactMatch UMLS:C5561975 semapv:UnspecifiedMatching MONDO:0859187 neurodevelopmental disorder with hypotonia and brain abnormalities skos:exactMatch MEDGEN:1794187 semapv:UnspecifiedMatching MONDO:0859187 neurodevelopmental disorder with hypotonia and brain abnormalities skos:exactMatch OMIM:619512 neurodevelopmental disorder with hypotonia and brain abnormalities semapv:UnspecifiedMatching MONDO:0859187 neurodevelopmental disorder with hypotonia and brain abnormalities skos:exactMatch UMLS:C5561977 semapv:UnspecifiedMatching MONDO:0859188 neurodevelopmental disorder with seizures and brain abnormalities skos:exactMatch MEDGEN:1794189 semapv:UnspecifiedMatching MONDO:0859188 neurodevelopmental disorder with seizures and brain abnormalities skos:exactMatch OMIM:619517 neurodevelopmental disorder with seizures and brain abnormalities semapv:UnspecifiedMatching MONDO:0859188 neurodevelopmental disorder with seizures and brain abnormalities skos:exactMatch UMLS:C5561979 semapv:UnspecifiedMatching MONDO:0859189 muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome skos:exactMatch MEDGEN:1794190 semapv:UnspecifiedMatching MONDO:0859189 muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome skos:exactMatch OMIM:619518 muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome semapv:UnspecifiedMatching MONDO:0859189 muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome skos:exactMatch UMLS:C5561980 semapv:UnspecifiedMatching MONDO:0859190 neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities skos:exactMatch MEDGEN:1794194 semapv:UnspecifiedMatching MONDO:0859190 neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities skos:exactMatch OMIM:619522 neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities semapv:UnspecifiedMatching MONDO:0859190 neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities skos:exactMatch UMLS:C5561984 semapv:UnspecifiedMatching MONDO:0859191 biliary, renal, neurologic, and skeletal syndrome skos:exactMatch MEDGEN:1794200 semapv:UnspecifiedMatching MONDO:0859191 biliary, renal, neurologic, and skeletal syndrome skos:exactMatch OMIM:619534 biliary, renal, neurologic, and skeletal syndrome semapv:UnspecifiedMatching MONDO:0859191 biliary, renal, neurologic, and skeletal syndrome skos:exactMatch UMLS:C5561990 semapv:UnspecifiedMatching MONDO:0859192 cerebral cavernous malformation 4 skos:exactMatch MEDGEN:1794201 semapv:UnspecifiedMatching MONDO:0859192 cerebral cavernous malformation 4 skos:exactMatch OMIM:619538 cerebral cavernous malformations 4 semapv:UnspecifiedMatching MONDO:0859192 cerebral cavernous malformation 4 skos:exactMatch UMLS:C5561991 semapv:UnspecifiedMatching MONDO:0859193 neuroocular syndrome skos:exactMatch MEDGEN:1790414 semapv:UnspecifiedMatching MONDO:0859193 neuroocular syndrome skos:exactMatch OMIMPS:619539 Neuroocular syndrome semapv:UnspecifiedMatching MONDO:0859193 neuroocular syndrome skos:exactMatch UMLS:C5551362 semapv:UnspecifiedMatching MONDO:0859194 Boudin-Mortier syndrome skos:exactMatch MEDGEN:1794202 semapv:UnspecifiedMatching MONDO:0859194 Boudin-Mortier syndrome skos:exactMatch OMIM:619543 boudin-mortier syndrome semapv:UnspecifiedMatching MONDO:0859194 Boudin-Mortier syndrome skos:exactMatch UMLS:C5561992 semapv:UnspecifiedMatching MONDO:0859196 Usmani-Riazuddin syndrome, autosomal recessive skos:exactMatch MEDGEN:1794204 semapv:UnspecifiedMatching MONDO:0859196 Usmani-Riazuddin syndrome, autosomal recessive skos:exactMatch OMIM:619548 usmani-riazuddin syndrome, autosomal recessive semapv:UnspecifiedMatching MONDO:0859196 Usmani-Riazuddin syndrome, autosomal recessive skos:exactMatch UMLS:C5561994 semapv:UnspecifiedMatching MONDO:0859197 intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies skos:exactMatch DOID:0081262 intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies semapv:UnspecifiedMatching MONDO:0859197 intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies skos:exactMatch MEDGEN:1794207 semapv:UnspecifiedMatching MONDO:0859197 intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies skos:exactMatch OMIM:619556 intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies semapv:UnspecifiedMatching MONDO:0859197 intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies skos:exactMatch UMLS:C5561997 semapv:UnspecifiedMatching MONDO:0859198 short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies skos:exactMatch MEDGEN:1794208 semapv:UnspecifiedMatching MONDO:0859198 short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies skos:exactMatch OMIM:619557 short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies semapv:UnspecifiedMatching MONDO:0859198 short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies skos:exactMatch UMLS:C5561998 semapv:UnspecifiedMatching MONDO:0859199 developmental delay with or without intellectual impairment or behavioral abnormalities skos:exactMatch MEDGEN:1794214 semapv:UnspecifiedMatching MONDO:0859199 developmental delay with or without intellectual impairment or behavioral abnormalities skos:exactMatch OMIM:619575 developmental delay with or without intellectual impairment or behavioral abnormalities semapv:UnspecifiedMatching MONDO:0859199 developmental delay with or without intellectual impairment or behavioral abnormalities skos:exactMatch UMLS:C5562004 semapv:UnspecifiedMatching MONDO:0859200 cerebellar ataxia, brain abnormalities, and cardiac conduction defects skos:exactMatch MEDGEN:1794215 semapv:UnspecifiedMatching MONDO:0859200 cerebellar ataxia, brain abnormalities, and cardiac conduction defects skos:exactMatch OMIM:619576 cerebellar ataxia, brain abnormalities, and cardiac conduction defects semapv:UnspecifiedMatching MONDO:0859200 cerebellar ataxia, brain abnormalities, and cardiac conduction defects skos:exactMatch Orphanet:641361 Neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome semapv:UnspecifiedMatching MONDO:0859200 cerebellar ataxia, brain abnormalities, and cardiac conduction defects skos:exactMatch UMLS:C5562005 semapv:UnspecifiedMatching MONDO:0859201 neurodevelopmental disorder with impaired language and ataxia and with or without seizures skos:exactMatch MEDGEN:1794216 semapv:UnspecifiedMatching MONDO:0859201 neurodevelopmental disorder with impaired language and ataxia and with or without seizures skos:exactMatch OMIM:619580 neurodevelopmental disorder with impaired language and ataxia and with or without seizures semapv:UnspecifiedMatching MONDO:0859201 neurodevelopmental disorder with impaired language and ataxia and with or without seizures skos:exactMatch UMLS:C5562006 semapv:UnspecifiedMatching MONDO:0859202 developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities skos:exactMatch MEDGEN:1794222 semapv:UnspecifiedMatching MONDO:0859202 developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities skos:exactMatch OMIM:619595 developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities semapv:UnspecifiedMatching MONDO:0859202 developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities skos:exactMatch UMLS:C5562012 semapv:UnspecifiedMatching MONDO:0859203 rhizomelic dysplasia, Ain-Naz type skos:exactMatch MEDGEN:1794223 semapv:UnspecifiedMatching MONDO:0859203 rhizomelic dysplasia, Ain-Naz type skos:exactMatch OMIM:619598 rhizomelic dysplasia, ain-naz type semapv:UnspecifiedMatching MONDO:0859203 rhizomelic dysplasia, Ain-Naz type skos:exactMatch UMLS:C5562013 semapv:UnspecifiedMatching MONDO:0859204 fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies skos:exactMatch MEDGEN:1794225 semapv:UnspecifiedMatching MONDO:0859204 fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies skos:exactMatch OMIM:619602 fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies semapv:UnspecifiedMatching MONDO:0859204 fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies skos:exactMatch UMLS:C5562015 semapv:UnspecifiedMatching MONDO:0859205 delayed puberty, self-limited skos:exactMatch MEDGEN:1789612 semapv:UnspecifiedMatching MONDO:0859205 delayed puberty, self-limited skos:exactMatch OMIM:619613 delayed puberty, self-limited semapv:UnspecifiedMatching MONDO:0859205 delayed puberty, self-limited skos:exactMatch UMLS:C2874202 semapv:UnspecifiedMatching MONDO:0859206 neurodevelopmental disorder with hearing loss and spasticity skos:exactMatch MEDGEN:1794234 semapv:UnspecifiedMatching MONDO:0859206 neurodevelopmental disorder with hearing loss and spasticity skos:exactMatch OMIM:619616 neurodevelopmental disorder with hearing loss and spasticity semapv:UnspecifiedMatching MONDO:0859206 neurodevelopmental disorder with hearing loss and spasticity skos:exactMatch Orphanet:659975 Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0859206 neurodevelopmental disorder with hearing loss and spasticity skos:exactMatch UMLS:C5562024 semapv:UnspecifiedMatching MONDO:0859207 neurodevelopmental disorder with hypotonia and gross motor and speech delay skos:exactMatch MEDGEN:1794241 semapv:UnspecifiedMatching MONDO:0859207 neurodevelopmental disorder with hypotonia and gross motor and speech delay skos:exactMatch OMIM:619639 neurodevelopmental disorder with hypotonia and gross motor and speech delay semapv:UnspecifiedMatching MONDO:0859207 neurodevelopmental disorder with hypotonia and gross motor and speech delay skos:exactMatch UMLS:C5562031 semapv:UnspecifiedMatching MONDO:0859208 Hengel-Maroofian-Schols syndrome skos:exactMatch DOID:0070408 Hengel-Maroofian-Schols syndrome semapv:UnspecifiedMatching MONDO:0859208 Hengel-Maroofian-Schols syndrome skos:exactMatch MEDGEN:1794242 semapv:UnspecifiedMatching MONDO:0859208 Hengel-Maroofian-Schols syndrome skos:exactMatch OMIM:619641 hengel-maroofian-schols syndrome semapv:UnspecifiedMatching MONDO:0859208 Hengel-Maroofian-Schols syndrome skos:exactMatch Orphanet:697067 Global developmental delay-intellectual disability-microcephaly-short stature-brain iron accumulation syndrome semapv:UnspecifiedMatching MONDO:0859208 Hengel-Maroofian-Schols syndrome skos:exactMatch UMLS:C5562032 semapv:UnspecifiedMatching MONDO:0859209 Zaki syndrome skos:exactMatch DOID:0070473 Zaki syndrome semapv:UnspecifiedMatching MONDO:0859209 Zaki syndrome skos:exactMatch MEDGEN:1794247 semapv:UnspecifiedMatching MONDO:0859209 Zaki syndrome skos:exactMatch OMIM:619648 zaki syndrome semapv:UnspecifiedMatching MONDO:0859209 Zaki syndrome skos:exactMatch UMLS:C5562037 semapv:UnspecifiedMatching MONDO:0859210 chromosome 16q12 duplication syndrome skos:exactMatch MEDGEN:1794292 semapv:UnspecifiedMatching MONDO:0859210 chromosome 16q12 duplication syndrome skos:exactMatch OMIM:619649 chromosome 16q12 duplication syndrome semapv:UnspecifiedMatching MONDO:0859210 chromosome 16q12 duplication syndrome skos:exactMatch UMLS:C5562082 semapv:UnspecifiedMatching MONDO:0859211 neurodevelopmental disorder with hyperkinetic movements and dyskinesia skos:exactMatch MEDGEN:1794248 semapv:UnspecifiedMatching MONDO:0859211 neurodevelopmental disorder with hyperkinetic movements and dyskinesia skos:exactMatch OMIM:619651 neurodevelopmental disorder with hyperkinetic movements and dyskinesia semapv:UnspecifiedMatching MONDO:0859211 neurodevelopmental disorder with hyperkinetic movements and dyskinesia skos:exactMatch UMLS:C5562038 semapv:UnspecifiedMatching MONDO:0859212 neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus skos:exactMatch MEDGEN:1794250 semapv:UnspecifiedMatching MONDO:0859212 neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus skos:exactMatch OMIM:619653 neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus semapv:UnspecifiedMatching MONDO:0859212 neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus skos:exactMatch UMLS:C5562040 semapv:UnspecifiedMatching MONDO:0859213 congenital heart defects, multiple types, 8, with or without heterotaxy skos:exactMatch MEDGEN:1794252 semapv:UnspecifiedMatching MONDO:0859213 congenital heart defects, multiple types, 8, with or without heterotaxy skos:exactMatch OMIM:619657 congenital heart defects, multiple types, 8, with or without heterotaxy semapv:UnspecifiedMatching MONDO:0859213 congenital heart defects, multiple types, 8, with or without heterotaxy skos:exactMatch UMLS:C5562042 semapv:UnspecifiedMatching MONDO:0859214 Marbach-Schaaf neurodevelopmental syndrome skos:exactMatch MEDGEN:1794260 semapv:UnspecifiedMatching MONDO:0859214 Marbach-Schaaf neurodevelopmental syndrome skos:exactMatch OMIM:619680 marbach-schaaf neurodevelopmental syndrome semapv:UnspecifiedMatching MONDO:0859214 Marbach-Schaaf neurodevelopmental syndrome skos:exactMatch Orphanet:692173 Marbach-Schaaf neurodevelopmental syndrome semapv:UnspecifiedMatching MONDO:0859214 Marbach-Schaaf neurodevelopmental syndrome skos:exactMatch UMLS:C5562050 semapv:UnspecifiedMatching MONDO:0859215 dystonia, early-onset, and/or spastic paraplegia skos:exactMatch DOID:0070445 early-onset dystonia and/or spastic paraplegia semapv:UnspecifiedMatching MONDO:0859215 dystonia, early-onset, and/or spastic paraplegia skos:exactMatch MEDGEN:1794261 semapv:UnspecifiedMatching MONDO:0859215 dystonia, early-onset, and/or spastic paraplegia skos:exactMatch OMIM:619681 dystonia, early-onset, and/or spastic paraplegia semapv:UnspecifiedMatching MONDO:0859215 dystonia, early-onset, and/or spastic paraplegia skos:exactMatch UMLS:C5562051 semapv:UnspecifiedMatching MONDO:0859216 neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis skos:exactMatch MEDGEN:1794262 semapv:UnspecifiedMatching MONDO:0859216 neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis skos:exactMatch OMIM:619685 neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis semapv:UnspecifiedMatching MONDO:0859216 neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis skos:exactMatch UMLS:C5562052 semapv:UnspecifiedMatching MONDO:0859217 Brunet-Wagner neurodevelopmental syndrome skos:exactMatch DOID:0061126 Brunet-Wagner neurodevelopmental syndrome semapv:UnspecifiedMatching MONDO:0859217 Brunet-Wagner neurodevelopmental syndrome skos:exactMatch MEDGEN:1794266 semapv:UnspecifiedMatching MONDO:0859217 Brunet-Wagner neurodevelopmental syndrome skos:exactMatch OMIM:619690 brunet-wagner neurodevelopmental syndrome semapv:UnspecifiedMatching MONDO:0859217 Brunet-Wagner neurodevelopmental syndrome skos:exactMatch UMLS:C5562056 semapv:UnspecifiedMatching MONDO:0859218 developmental delay with variable neurologic and brain abnormalities skos:exactMatch MEDGEN:1794270 semapv:UnspecifiedMatching MONDO:0859218 developmental delay with variable neurologic and brain abnormalities skos:exactMatch OMIM:619694 developmental delay with variable neurologic and brain abnormalities semapv:UnspecifiedMatching MONDO:0859218 developmental delay with variable neurologic and brain abnormalities skos:exactMatch UMLS:C5562060 semapv:UnspecifiedMatching MONDO:0859219 Rauch-Steindl syndrome skos:exactMatch MEDGEN:1794271 semapv:UnspecifiedMatching MONDO:0859219 Rauch-Steindl syndrome skos:exactMatch OMIM:619695 rauch-steindl syndrome semapv:UnspecifiedMatching MONDO:0859219 Rauch-Steindl syndrome skos:exactMatch Orphanet:659642 Rauch-Steindl syndrome semapv:UnspecifiedMatching MONDO:0859219 Rauch-Steindl syndrome skos:exactMatch UMLS:C5562061 semapv:UnspecifiedMatching MONDO:0859220 Ferguson-Bonni neurodevelopmental syndrome skos:exactMatch MEDGEN:1794275 semapv:UnspecifiedMatching MONDO:0859220 Ferguson-Bonni neurodevelopmental syndrome skos:exactMatch OMIM:619699 ferguson-bonni neurodevelopmental syndrome semapv:UnspecifiedMatching MONDO:0859220 Ferguson-Bonni neurodevelopmental syndrome skos:exactMatch UMLS:C5562065 semapv:UnspecifiedMatching MONDO:0859221 Yoon-Bellen neurodevelopmental syndrome skos:exactMatch DOID:0070468 Yoon-Bellen neurodevelopmental syndrome semapv:UnspecifiedMatching MONDO:0859221 Yoon-Bellen neurodevelopmental syndrome skos:exactMatch MEDGEN:1794276 semapv:UnspecifiedMatching MONDO:0859221 Yoon-Bellen neurodevelopmental syndrome skos:exactMatch OMIM:619701 yoon-bellen neurodevelopmental syndrome semapv:UnspecifiedMatching MONDO:0859221 Yoon-Bellen neurodevelopmental syndrome skos:exactMatch UMLS:C5562066 semapv:UnspecifiedMatching MONDO:0859222 heterotaxy, visceral, 12, autosomal skos:exactMatch DOID:0051026 visceral heterotaxy 12 semapv:UnspecifiedMatching MONDO:0859222 heterotaxy, visceral, 12, autosomal skos:exactMatch MEDGEN:1803695 semapv:UnspecifiedMatching MONDO:0859222 heterotaxy, visceral, 12, autosomal skos:exactMatch OMIM:619702 heterotaxy, visceral, 12, autosomal semapv:UnspecifiedMatching MONDO:0859222 heterotaxy, visceral, 12, autosomal skos:exactMatch UMLS:C5676898 semapv:UnspecifiedMatching MONDO:0859223 congenital disorder of glycosylation, type Iw, autosomal dominant skos:exactMatch MEDGEN:1794278 semapv:UnspecifiedMatching MONDO:0859223 congenital disorder of glycosylation, type Iw, autosomal dominant skos:exactMatch OMIM:619714 congenital disorder of glycosylation, type iw, autosomal dominant semapv:UnspecifiedMatching MONDO:0859223 congenital disorder of glycosylation, type Iw, autosomal dominant skos:exactMatch UMLS:C5562068 semapv:UnspecifiedMatching MONDO:0859224 intellectual disability and myopathy syndrome skos:exactMatch DOID:0070600 intellectual disability and myopathy syndrome semapv:UnspecifiedMatching MONDO:0859224 intellectual disability and myopathy syndrome skos:exactMatch MEDGEN:1808193 semapv:UnspecifiedMatching MONDO:0859224 intellectual disability and myopathy syndrome skos:exactMatch OMIM:619719 intellectual disability and myopathy syndrome semapv:UnspecifiedMatching MONDO:0859224 intellectual disability and myopathy syndrome skos:exactMatch UMLS:C5676904 semapv:UnspecifiedMatching MONDO:0859225 neurodevelopmental disorder with or without variable movement or behavioral abnormalities skos:exactMatch MEDGEN:1802087 semapv:UnspecifiedMatching MONDO:0859225 neurodevelopmental disorder with or without variable movement or behavioral abnormalities skos:exactMatch OMIM:619725 neurodevelopmental disorder with or without variable movement or behavioral abnormalities semapv:UnspecifiedMatching MONDO:0859225 neurodevelopmental disorder with or without variable movement or behavioral abnormalities skos:exactMatch UMLS:C5676908 semapv:UnspecifiedMatching MONDO:0859226 craniotubular dysplasia, Ikegawa type skos:exactMatch DOID:0112340 craniotubular dysplasia Ikegawa type semapv:UnspecifiedMatching MONDO:0859226 craniotubular dysplasia, Ikegawa type skos:exactMatch MEDGEN:1806238 semapv:UnspecifiedMatching MONDO:0859226 craniotubular dysplasia, Ikegawa type skos:exactMatch OMIM:619727 craniotubular dysplasia, ikegawa type semapv:UnspecifiedMatching MONDO:0859226 craniotubular dysplasia, Ikegawa type skos:exactMatch UMLS:C5575335 semapv:UnspecifiedMatching MONDO:0859228 combined oxidative phosphorylation deficiency 55 skos:exactMatch DOID:0070428 combined oxidative phosphorylation deficiency 55 semapv:UnspecifiedMatching MONDO:0859228 combined oxidative phosphorylation deficiency 55 skos:exactMatch MEDGEN:1806598 semapv:UnspecifiedMatching MONDO:0859228 combined oxidative phosphorylation deficiency 55 skos:exactMatch OMIM:619743 combined oxidative phosphorylation deficiency 55 semapv:UnspecifiedMatching MONDO:0859228 combined oxidative phosphorylation deficiency 55 skos:exactMatch UMLS:C5676915 semapv:UnspecifiedMatching MONDO:0859229 cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism skos:exactMatch MEDGEN:1808634 semapv:UnspecifiedMatching MONDO:0859229 cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism skos:exactMatch OMIM:619761 cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism semapv:UnspecifiedMatching MONDO:0859229 cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism skos:exactMatch UMLS:C5676924 semapv:UnspecifiedMatching MONDO:0859230 Kury-Isidor syndrome skos:exactMatch MEDGEN:1807460 semapv:UnspecifiedMatching MONDO:0859230 Kury-Isidor syndrome skos:exactMatch OMIM:619762 kury-isidor syndrome semapv:UnspecifiedMatching MONDO:0859230 Kury-Isidor syndrome skos:exactMatch UMLS:C5676925 semapv:UnspecifiedMatching MONDO:0859231 macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin skos:exactMatch MEDGEN:1802903 semapv:UnspecifiedMatching MONDO:0859231 macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin skos:exactMatch OMIM:619769 macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin semapv:UnspecifiedMatching MONDO:0859231 macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin skos:exactMatch Orphanet:694956 Intellectual disability-lymphoid hypertrophy-macrocephaly syndrome semapv:UnspecifiedMatching MONDO:0859231 macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin skos:exactMatch UMLS:C5676928 semapv:UnspecifiedMatching MONDO:0859232 neurodevelopmental disorder with central hypotonia and dysmorphic facies skos:exactMatch MEDGEN:1807420 semapv:UnspecifiedMatching MONDO:0859232 neurodevelopmental disorder with central hypotonia and dysmorphic facies skos:exactMatch OMIM:619797 neurodevelopmental disorder with central hypotonia and dysmorphic facies semapv:UnspecifiedMatching MONDO:0859232 neurodevelopmental disorder with central hypotonia and dysmorphic facies skos:exactMatch UMLS:C5676944 semapv:UnspecifiedMatching MONDO:0859233 epidermolysis bullosa, junctional 6, with pyloric atresia skos:exactMatch MEDGEN:1803348 semapv:UnspecifiedMatching MONDO:0859233 epidermolysis bullosa, junctional 6, with pyloric atresia skos:exactMatch OMIM:619817 epidermolysis bullosa, junctional 6, with pyloric atresia semapv:UnspecifiedMatching MONDO:0859233 epidermolysis bullosa, junctional 6, with pyloric atresia skos:exactMatch UMLS:C5676957 semapv:UnspecifiedMatching MONDO:0859234 agammaglobulinemia 8b, autosomal recessive skos:exactMatch DOID:0081143 agammaglobulinemia 8B semapv:UnspecifiedMatching MONDO:0859234 agammaglobulinemia 8b, autosomal recessive skos:exactMatch MEDGEN:1808468 semapv:UnspecifiedMatching MONDO:0859234 agammaglobulinemia 8b, autosomal recessive skos:exactMatch OMIM:619824 agammaglobulinemia 8b, autosomal recessive semapv:UnspecifiedMatching MONDO:0859234 agammaglobulinemia 8b, autosomal recessive skos:exactMatch UMLS:C5676958 semapv:UnspecifiedMatching MONDO:0859235 auditory neuropathy, autosomal dominant 3 skos:exactMatch DOID:0112373 autosomal dominant auditory neuropathy 3 semapv:UnspecifiedMatching MONDO:0859235 auditory neuropathy, autosomal dominant 3 skos:exactMatch MEDGEN:1805371 semapv:UnspecifiedMatching MONDO:0859235 auditory neuropathy, autosomal dominant 3 skos:exactMatch OMIM:619832 auditory neuropathy, autosomal dominant 3 semapv:UnspecifiedMatching MONDO:0859235 auditory neuropathy, autosomal dominant 3 skos:exactMatch UMLS:C5676964 semapv:UnspecifiedMatching MONDO:0859236 neurodevelopmental disorder with neuromuscular and skeletal abnormalities skos:exactMatch MEDGEN:1803456 semapv:UnspecifiedMatching MONDO:0859236 neurodevelopmental disorder with neuromuscular and skeletal abnormalities skos:exactMatch OMIM:619833 neurodevelopmental disorder with neuromuscular and skeletal abnormalities semapv:UnspecifiedMatching MONDO:0859236 neurodevelopmental disorder with neuromuscular and skeletal abnormalities skos:exactMatch UMLS:C5676965 semapv:UnspecifiedMatching MONDO:0859237 3-methylglutaconic aciduria, type VIIA skos:exactMatch DOID:0081133 3-methylglutaconic aciduria type 7a semapv:UnspecifiedMatching MONDO:0859237 3-methylglutaconic aciduria, type VIIA skos:exactMatch MEDGEN:1813022 semapv:UnspecifiedMatching MONDO:0859237 3-methylglutaconic aciduria, type VIIA skos:exactMatch OMIM:619835 3-methylglutaconic aciduria, type 7a semapv:UnspecifiedMatching MONDO:0859237 3-methylglutaconic aciduria, type VIIA skos:exactMatch UMLS:C5676967 semapv:UnspecifiedMatching MONDO:0859238 hypoalphalipoproteinemia, primary, 2, intermediate skos:exactMatch MEDGEN:1801755 semapv:UnspecifiedMatching MONDO:0859238 hypoalphalipoproteinemia, primary, 2, intermediate skos:exactMatch OMIM:619836 hypoalphalipoproteinemia, primary, 2, intermediate semapv:UnspecifiedMatching MONDO:0859238 hypoalphalipoproteinemia, primary, 2, intermediate skos:exactMatch UMLS:C5677030 semapv:UnspecifiedMatching MONDO:0859239 Chilton-Okur-Chung neurodevelopmental syndrome skos:exactMatch MEDGEN:1803276 semapv:UnspecifiedMatching MONDO:0859239 Chilton-Okur-Chung neurodevelopmental syndrome skos:exactMatch OMIM:619841 chilton-okur-chung neurodevelopmental syndrome semapv:UnspecifiedMatching MONDO:0859239 Chilton-Okur-Chung neurodevelopmental syndrome skos:exactMatch UMLS:C5677022 semapv:UnspecifiedMatching MONDO:0859240 intellectual developmental disorder with or without peripheral neuropathy skos:exactMatch MEDGEN:1807523 semapv:UnspecifiedMatching MONDO:0859240 intellectual developmental disorder with or without peripheral neuropathy skos:exactMatch OMIM:619844 intellectual developmental disorder with or without peripheral neuropathy semapv:UnspecifiedMatching MONDO:0859240 intellectual developmental disorder with or without peripheral neuropathy skos:exactMatch Orphanet:694937 Intellectual disability-peripheral neuropathy-corpus callosum abnormalities syndrome due to nudix hydrolase 2 deficiency semapv:UnspecifiedMatching MONDO:0859240 intellectual developmental disorder with or without peripheral neuropathy skos:exactMatch UMLS:C5676969 semapv:UnspecifiedMatching MONDO:0859241 neurodegeneration, childhood-onset, with progressive microcephaly skos:exactMatch MEDGEN:1801540 semapv:UnspecifiedMatching MONDO:0859241 neurodegeneration, childhood-onset, with progressive microcephaly skos:exactMatch OMIM:619847 neurodegeneration, childhood-onset, with progressive microcephaly semapv:UnspecifiedMatching MONDO:0859241 neurodegeneration, childhood-onset, with progressive microcephaly skos:exactMatch UMLS:C5676972 semapv:UnspecifiedMatching MONDO:0859242 leukodystrophy, hypomyelinating, 24 skos:exactMatch DOID:0070406 hypomyelinating leukodystrophy 24 semapv:UnspecifiedMatching MONDO:0859242 leukodystrophy, hypomyelinating, 24 skos:exactMatch MEDGEN:1805365 semapv:UnspecifiedMatching MONDO:0859242 leukodystrophy, hypomyelinating, 24 skos:exactMatch OMIM:619851 leukodystrophy, hypomyelinating, 24 semapv:UnspecifiedMatching MONDO:0859242 leukodystrophy, hypomyelinating, 24 skos:exactMatch UMLS:C5676974 semapv:UnspecifiedMatching MONDO:0859243 neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities skos:exactMatch MEDGEN:1812577 semapv:UnspecifiedMatching MONDO:0859243 neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities skos:exactMatch OMIM:619854 neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities semapv:UnspecifiedMatching MONDO:0859243 neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities skos:exactMatch UMLS:C5676975 semapv:UnspecifiedMatching MONDO:0859244 phosphoribosylaminoimidazole carboxylase deficiency skos:exactMatch MEDGEN:713858 semapv:UnspecifiedMatching MONDO:0859244 phosphoribosylaminoimidazole carboxylase deficiency skos:exactMatch OMIM:619859 phosphoribosylaminoimidazole carboxylase deficiency semapv:UnspecifiedMatching MONDO:0859244 phosphoribosylaminoimidazole carboxylase deficiency skos:exactMatch UMLS:C1291561 semapv:UnspecifiedMatching MONDO:0859245 spinocerebellar ataxia, autosomal recessive 32 skos:exactMatch DOID:0070413 autosomal recessive spinocerebellar ataxia 32 semapv:UnspecifiedMatching MONDO:0859245 spinocerebellar ataxia, autosomal recessive 32 skos:exactMatch MEDGEN:1802496 semapv:UnspecifiedMatching MONDO:0859245 spinocerebellar ataxia, autosomal recessive 32 skos:exactMatch OMIM:619862 spinocerebellar ataxia, autosomal recessive 32 semapv:UnspecifiedMatching MONDO:0859245 spinocerebellar ataxia, autosomal recessive 32 skos:exactMatch UMLS:C5676978 semapv:UnspecifiedMatching MONDO:0859246 leukodystrophy, childhood-onset, remitting skos:exactMatch MEDGEN:1804145 semapv:UnspecifiedMatching MONDO:0859246 leukodystrophy, childhood-onset, remitting skos:exactMatch OMIM:619864 leukodystrophy, childhood-onset, remitting semapv:UnspecifiedMatching MONDO:0859246 leukodystrophy, childhood-onset, remitting skos:exactMatch UMLS:C5676979 semapv:UnspecifiedMatching MONDO:0859247 neurocardiofaciodigital syndrome skos:exactMatch MEDGEN:1804193 semapv:UnspecifiedMatching MONDO:0859247 neurocardiofaciodigital syndrome skos:exactMatch OMIM:619869 neurocardiofaciodigital syndrome semapv:UnspecifiedMatching MONDO:0859247 neurocardiofaciodigital syndrome skos:exactMatch UMLS:C5677020 semapv:UnspecifiedMatching MONDO:0859248 corneal dystrophy, punctiform and polychromatic pre-descemet skos:exactMatch MEDGEN:1806182 semapv:UnspecifiedMatching MONDO:0859248 corneal dystrophy, punctiform and polychromatic pre-descemet skos:exactMatch OMIM:619871 corneal dystrophy, punctiform and polychromatic pre-descemet semapv:UnspecifiedMatching MONDO:0859248 corneal dystrophy, punctiform and polychromatic pre-descemet skos:exactMatch UMLS:C5676982 semapv:UnspecifiedMatching MONDO:0859249 parenti-mignot neurodevelopmental syndrome skos:exactMatch MEDGEN:1808333 semapv:UnspecifiedMatching MONDO:0859249 parenti-mignot neurodevelopmental syndrome skos:exactMatch OMIM:619873 parenti-mignot neurodevelopmental syndrome semapv:UnspecifiedMatching MONDO:0859249 parenti-mignot neurodevelopmental syndrome skos:exactMatch UMLS:C5676984 semapv:UnspecifiedMatching MONDO:0859250 neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures skos:exactMatch MEDGEN:1810140 semapv:UnspecifiedMatching MONDO:0859250 neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures skos:exactMatch OMIM:619876 neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures semapv:UnspecifiedMatching MONDO:0859250 neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures skos:exactMatch UMLS:C5676986 semapv:UnspecifiedMatching MONDO:0859251 Dentici-Novelli neurodevelopmental syndrome skos:exactMatch MEDGEN:1810366 semapv:UnspecifiedMatching MONDO:0859251 Dentici-Novelli neurodevelopmental syndrome skos:exactMatch OMIM:619877 dentici-novelli neurodevelopmental syndrome semapv:UnspecifiedMatching MONDO:0859251 Dentici-Novelli neurodevelopmental syndrome skos:exactMatch UMLS:C5676987 semapv:UnspecifiedMatching MONDO:0859252 neurodevelopmental disorder with poor growth and skeletal anomalies skos:exactMatch MEDGEN:1804653 semapv:UnspecifiedMatching MONDO:0859252 neurodevelopmental disorder with poor growth and skeletal anomalies skos:exactMatch OMIM:619880 neurodevelopmental disorder with poor growth and skeletal anomalies semapv:UnspecifiedMatching MONDO:0859252 neurodevelopmental disorder with poor growth and skeletal anomalies skos:exactMatch UMLS:C5676990 semapv:UnspecifiedMatching MONDO:0859253 osteoporosis, childhood- or juvenile-onset, with developmental delay skos:exactMatch MEDGEN:1802083 semapv:UnspecifiedMatching MONDO:0859253 osteoporosis, childhood- or juvenile-onset, with developmental delay skos:exactMatch OMIM:619884 osteoporosis, childhood- or juvenile-onset, with developmental delay semapv:UnspecifiedMatching MONDO:0859253 osteoporosis, childhood- or juvenile-onset, with developmental delay skos:exactMatch UMLS:C5676992 semapv:UnspecifiedMatching MONDO:0859254 hepatorenocardiac degenerative fibrosis skos:exactMatch MEDGEN:1808950 semapv:UnspecifiedMatching MONDO:0859254 hepatorenocardiac degenerative fibrosis skos:exactMatch OMIM:619902 hepatorenocardiac degenerative fibrosis semapv:UnspecifiedMatching MONDO:0859254 hepatorenocardiac degenerative fibrosis skos:exactMatch UMLS:C5676996 semapv:UnspecifiedMatching MONDO:0859255 peripheral motor neuropathy, childhood-onset, biotin-responsive skos:exactMatch MEDGEN:1809728 semapv:UnspecifiedMatching MONDO:0859255 peripheral motor neuropathy, childhood-onset, biotin-responsive skos:exactMatch OMIM:619903 peripheral motor neuropathy, childhood-onset, biotin-responsive semapv:UnspecifiedMatching MONDO:0859255 peripheral motor neuropathy, childhood-onset, biotin-responsive skos:exactMatch UMLS:C5676997 semapv:UnspecifiedMatching MONDO:0859256 neurodevelopmental disorder with language delay and seizures skos:exactMatch DOID:0070444 neurodevelopmental disorder with language delay and seizures semapv:UnspecifiedMatching MONDO:0859256 neurodevelopmental disorder with language delay and seizures skos:exactMatch MEDGEN:1805816 semapv:UnspecifiedMatching MONDO:0859256 neurodevelopmental disorder with language delay and seizures skos:exactMatch OMIM:619908 neurodevelopmental disorder with language delay and seizures semapv:UnspecifiedMatching MONDO:0859256 neurodevelopmental disorder with language delay and seizures skos:exactMatch UMLS:C5676998 semapv:UnspecifiedMatching MONDO:0859257 intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism skos:exactMatch MEDGEN:1805453 semapv:UnspecifiedMatching MONDO:0859257 intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism skos:exactMatch OMIM:619911 intellectual developmental disorder with language impairment and early-onset dopa-responsive dystonia-parkinsonism semapv:UnspecifiedMatching MONDO:0859257 intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism skos:exactMatch Orphanet:660017 Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome semapv:UnspecifiedMatching MONDO:0859257 intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism skos:exactMatch UMLS:C5677001 semapv:UnspecifiedMatching MONDO:0859258 neurodevelopmental disorder with dystonia and seizures skos:exactMatch MEDGEN:1804461 semapv:UnspecifiedMatching MONDO:0859258 neurodevelopmental disorder with dystonia and seizures skos:exactMatch OMIM:619922 neurodevelopmental disorder with dystonia and seizures semapv:UnspecifiedMatching MONDO:0859258 neurodevelopmental disorder with dystonia and seizures skos:exactMatch UMLS:C5677004 semapv:UnspecifiedMatching MONDO:0859260 Dworschak-Punetha neurodevelopmental syndrome skos:exactMatch MEDGEN:1800957 semapv:UnspecifiedMatching MONDO:0859260 Dworschak-Punetha neurodevelopmental syndrome skos:exactMatch OMIM:619955 dworschak-punetha neurodevelopmental syndrome semapv:UnspecifiedMatching MONDO:0859260 Dworschak-Punetha neurodevelopmental syndrome skos:exactMatch UMLS:C5677017 semapv:UnspecifiedMatching MONDO:0859261 attention deficit-hyperactivity disorder 8 skos:exactMatch MEDGEN:1808030 semapv:UnspecifiedMatching MONDO:0859261 attention deficit-hyperactivity disorder 8 skos:exactMatch OMIM:619957 attention deficit-hyperactivity disorder 8 semapv:UnspecifiedMatching MONDO:0859261 attention deficit-hyperactivity disorder 8 skos:exactMatch UMLS:C5677018 semapv:UnspecifiedMatching MONDO:0859262 ACCES syndrome skos:exactMatch MEDGEN:1804308 semapv:UnspecifiedMatching MONDO:0859262 ACCES syndrome skos:exactMatch OMIM:619959 ACCES syndrome semapv:UnspecifiedMatching MONDO:0859262 ACCES syndrome skos:exactMatch UMLS:C5677019 semapv:UnspecifiedMatching MONDO:0859263 developmental delay, impaired speech, and behavioral abnormalities, with or without seizures skos:exactMatch MEDGEN:1811329 semapv:UnspecifiedMatching MONDO:0859263 developmental delay, impaired speech, and behavioral abnormalities, with or without seizures skos:exactMatch OMIM:619964 developmental delay, impaired speech, and behavioral abnormalities, with or without seizures semapv:UnspecifiedMatching MONDO:0859263 developmental delay, impaired speech, and behavioral abnormalities, with or without seizures skos:exactMatch UMLS:C5575272 semapv:UnspecifiedMatching MONDO:0859264 congenital myopathy 11 skos:exactMatch MEDGEN:462881 semapv:UnspecifiedMatching MONDO:0859264 congenital myopathy 11 skos:exactMatch OMIM:619967 congenital myopathy 11 semapv:UnspecifiedMatching MONDO:0859264 congenital myopathy 11 skos:exactMatch UMLS:C3151531 semapv:UnspecifiedMatching MONDO:0859265 neurodevelopmental disorder with epilepsy and brain atrophy skos:exactMatch MEDGEN:1823957 semapv:UnspecifiedMatching MONDO:0859265 neurodevelopmental disorder with epilepsy and brain atrophy skos:exactMatch OMIM:619971 neurodevelopmental disorder with epilepsy and brain atrophy semapv:UnspecifiedMatching MONDO:0859265 neurodevelopmental disorder with epilepsy and brain atrophy skos:exactMatch UMLS:C5774184 semapv:UnspecifiedMatching MONDO:0859266 neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy skos:exactMatch MEDGEN:1823958 semapv:UnspecifiedMatching MONDO:0859266 neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy skos:exactMatch OMIM:619972 neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy semapv:UnspecifiedMatching MONDO:0859266 neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy skos:exactMatch UMLS:C5774185 semapv:UnspecifiedMatching MONDO:0859267 tumor predisposition syndrome 2 skos:exactMatch MEDGEN:1823959 semapv:UnspecifiedMatching MONDO:0859267 tumor predisposition syndrome 2 skos:exactMatch OMIM:619975 tumor predisposition syndrome 2 semapv:UnspecifiedMatching MONDO:0859267 tumor predisposition syndrome 2 skos:exactMatch Orphanet:661526 MBD4-related tumor predisposition syndrome semapv:UnspecifiedMatching MONDO:0859267 tumor predisposition syndrome 2 skos:exactMatch UMLS:C5774186 semapv:UnspecifiedMatching MONDO:0859271 glycosylphosphatidylinositol biosynthesis defect 25 skos:exactMatch MEDGEN:1823964 semapv:UnspecifiedMatching MONDO:0859271 glycosylphosphatidylinositol biosynthesis defect 25 skos:exactMatch OMIM:619985 glycosylphosphatidylinositol biosynthesis defect 25 semapv:UnspecifiedMatching MONDO:0859271 glycosylphosphatidylinositol biosynthesis defect 25 skos:exactMatch UMLS:C5774191 semapv:UnspecifiedMatching MONDO:0859272 neurodevelopmental disorder with speech delay and variable ocular anomalies skos:exactMatch MEDGEN:1823967 semapv:UnspecifiedMatching MONDO:0859272 neurodevelopmental disorder with speech delay and variable ocular anomalies skos:exactMatch OMIM:619989 neurodevelopmental disorder with speech delay and variable ocular anomalies semapv:UnspecifiedMatching MONDO:0859272 neurodevelopmental disorder with speech delay and variable ocular anomalies skos:exactMatch UMLS:C5774194 semapv:UnspecifiedMatching MONDO:0859273 liver disease, severe congenital skos:exactMatch MEDGEN:1823968 semapv:UnspecifiedMatching MONDO:0859273 liver disease, severe congenital skos:exactMatch OMIM:619991 liver disease, severe congenital semapv:UnspecifiedMatching MONDO:0859273 liver disease, severe congenital skos:exactMatch UMLS:C5774195 semapv:UnspecifiedMatching MONDO:0859274 neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies skos:exactMatch MEDGEN:1823969 semapv:UnspecifiedMatching MONDO:0859274 neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies skos:exactMatch OMIM:619995 neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies semapv:UnspecifiedMatching MONDO:0859274 neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies skos:exactMatch UMLS:C5774196 semapv:UnspecifiedMatching MONDO:0859275 neurodevelopmental disorder with spasticity, seizures, and brain abnormalities skos:exactMatch MEDGEN:1823970 semapv:UnspecifiedMatching MONDO:0859275 neurodevelopmental disorder with spasticity, seizures, and brain abnormalities skos:exactMatch OMIM:620001 neurodevelopmental disorder with spasticity, seizures, and brain abnormalities semapv:UnspecifiedMatching MONDO:0859275 neurodevelopmental disorder with spasticity, seizures, and brain abnormalities skos:exactMatch UMLS:C5774197 semapv:UnspecifiedMatching MONDO:0859276 primordial dwarfism-immunodeficiency-lipodystrophy syndrome skos:exactMatch MEDGEN:1823971 semapv:UnspecifiedMatching MONDO:0859276 primordial dwarfism-immunodeficiency-lipodystrophy syndrome skos:exactMatch OMIM:620005 primordial dwarfism-immunodeficiency-lipodystrophy syndrome semapv:UnspecifiedMatching MONDO:0859276 primordial dwarfism-immunodeficiency-lipodystrophy syndrome skos:exactMatch UMLS:C5774198 semapv:UnspecifiedMatching MONDO:0859277 intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects skos:exactMatch MEDGEN:1823972 semapv:UnspecifiedMatching MONDO:0859277 intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects skos:exactMatch OMIM:620007 intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects semapv:UnspecifiedMatching MONDO:0859277 intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects skos:exactMatch UMLS:C5774199 semapv:UnspecifiedMatching MONDO:0859278 keratoderma-ichthyosis-deafness syndrome, autosomal recessive skos:exactMatch MEDGEN:1823973 semapv:UnspecifiedMatching MONDO:0859278 keratoderma-ichthyosis-deafness syndrome, autosomal recessive skos:exactMatch OMIM:620009 keratoderma-ichthyosis-deafness syndrome, autosomal recessive semapv:UnspecifiedMatching MONDO:0859278 keratoderma-ichthyosis-deafness syndrome, autosomal recessive skos:exactMatch UMLS:C5774200 semapv:UnspecifiedMatching MONDO:0859279 spinal muscular atrophy, distal, autosomal recessive, 6 skos:exactMatch DOID:0081425 autosomal recessive distal hereditary motor neuronopathy 6 semapv:UnspecifiedMatching MONDO:0859279 spinal muscular atrophy, distal, autosomal recessive, 6 skos:exactMatch MEDGEN:1823974 semapv:UnspecifiedMatching MONDO:0859279 spinal muscular atrophy, distal, autosomal recessive, 6 skos:exactMatch OMIM:620011 neuronopathy, distal hereditary motor, autosomal recessive 6 semapv:UnspecifiedMatching MONDO:0859279 spinal muscular atrophy, distal, autosomal recessive, 6 skos:exactMatch UMLS:C5774201 semapv:UnspecifiedMatching MONDO:0859280 developmental delay, hypotonia, and impaired language skos:exactMatch DOID:0070420 developmental delay, hypotonia, and impaired language semapv:UnspecifiedMatching MONDO:0859280 developmental delay, hypotonia, and impaired language skos:exactMatch MEDGEN:1823975 semapv:UnspecifiedMatching MONDO:0859280 developmental delay, hypotonia, and impaired language skos:exactMatch OMIM:620012 developmental delay, hypotonia, and impaired language semapv:UnspecifiedMatching MONDO:0859280 developmental delay, hypotonia, and impaired language skos:exactMatch UMLS:C5774202 semapv:UnspecifiedMatching MONDO:0859281 intellectual developmental disorder with autism and dysmorphic facies skos:exactMatch MEDGEN:1823979 semapv:UnspecifiedMatching MONDO:0859281 intellectual developmental disorder with autism and dysmorphic facies skos:exactMatch OMIM:620021 intellectual developmental disorder with autism and dysmorphic facies semapv:UnspecifiedMatching MONDO:0859281 intellectual developmental disorder with autism and dysmorphic facies skos:exactMatch UMLS:C5774206 semapv:UnspecifiedMatching MONDO:0859282 neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures skos:exactMatch MEDGEN:1823981 semapv:UnspecifiedMatching MONDO:0859282 neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures skos:exactMatch OMIM:620023 neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures semapv:UnspecifiedMatching MONDO:0859282 neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures skos:exactMatch UMLS:C5774208 semapv:UnspecifiedMatching MONDO:0859283 neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities skos:exactMatch MEDGEN:1823982 semapv:UnspecifiedMatching MONDO:0859283 neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities skos:exactMatch OMIM:620024 neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities semapv:UnspecifiedMatching MONDO:0859283 neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities skos:exactMatch UMLS:C5774209 semapv:UnspecifiedMatching MONDO:0859285 neurodevelopmental disorder with microcephaly, short stature, and speech delay skos:exactMatch MEDGEN:1823984 semapv:UnspecifiedMatching MONDO:0859285 neurodevelopmental disorder with microcephaly, short stature, and speech delay skos:exactMatch OMIM:620027 neurodevelopmental disorder with microcephaly, short stature, and speech delay semapv:UnspecifiedMatching MONDO:0859285 neurodevelopmental disorder with microcephaly, short stature, and speech delay skos:exactMatch UMLS:C5774211 semapv:UnspecifiedMatching MONDO:0859286 neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures skos:exactMatch DOID:0070536 neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures semapv:UnspecifiedMatching MONDO:0859286 neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures skos:exactMatch MEDGEN:1823986 semapv:UnspecifiedMatching MONDO:0859286 neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures skos:exactMatch OMIM:620029 neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures semapv:UnspecifiedMatching MONDO:0859286 neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures skos:exactMatch UMLS:C5774213 semapv:UnspecifiedMatching MONDO:0859287 neurodevelopmental disorder with microcephaly, hypotonia, and absent language skos:exactMatch MEDGEN:1823989 semapv:UnspecifiedMatching MONDO:0859287 neurodevelopmental disorder with microcephaly, hypotonia, and absent language skos:exactMatch OMIM:620038 neurodevelopmental disorder with microcephaly, hypotonia, and absent language semapv:UnspecifiedMatching MONDO:0859287 neurodevelopmental disorder with microcephaly, hypotonia, and absent language skos:exactMatch UMLS:C5774216 semapv:UnspecifiedMatching MONDO:0859288 bone marrow failure and diabetes mellitus syndrome skos:exactMatch MEDGEN:1823991 semapv:UnspecifiedMatching MONDO:0859288 bone marrow failure and diabetes mellitus syndrome skos:exactMatch OMIM:620044 bone marrow failure and diabetes mellitus syndrome semapv:UnspecifiedMatching MONDO:0859288 bone marrow failure and diabetes mellitus syndrome skos:exactMatch UMLS:C5774218 semapv:UnspecifiedMatching MONDO:0859289 intestinal dysmotility syndrome skos:exactMatch MEDGEN:1823992 semapv:UnspecifiedMatching MONDO:0859289 intestinal dysmotility syndrome skos:exactMatch OMIM:620045 intestinal dysmotility syndrome semapv:UnspecifiedMatching MONDO:0859289 intestinal dysmotility syndrome skos:exactMatch UMLS:C5774219 semapv:UnspecifiedMatching MONDO:0859290 familial apolipoprotein gene cluster deletion syndrome skos:exactMatch MEDGEN:1824091 semapv:UnspecifiedMatching MONDO:0859290 familial apolipoprotein gene cluster deletion syndrome skos:exactMatch OMIM:620058 familial apolipoprotein gene cluster deletion syndrome semapv:UnspecifiedMatching MONDO:0859290 familial apolipoprotein gene cluster deletion syndrome skos:exactMatch UMLS:C5774318 semapv:UnspecifiedMatching MONDO:0859292 developmental delay, behavioral abnormalities, and neuropsychiatric disorders skos:exactMatch MEDGEN:1823997 semapv:UnspecifiedMatching MONDO:0859292 developmental delay, behavioral abnormalities, and neuropsychiatric disorders skos:exactMatch OMIM:620065 developmental delay, behavioral abnormalities, and neuropsychiatric disorders semapv:UnspecifiedMatching MONDO:0859292 developmental delay, behavioral abnormalities, and neuropsychiatric disorders skos:exactMatch UMLS:C5774224 semapv:UnspecifiedMatching MONDO:0859293 neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment skos:exactMatch MEDGEN:1823998 semapv:UnspecifiedMatching MONDO:0859293 neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment skos:exactMatch OMIM:620066 neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment semapv:UnspecifiedMatching MONDO:0859293 neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment skos:exactMatch UMLS:C5774225 semapv:UnspecifiedMatching MONDO:0859295 neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties skos:exactMatch DOID:0070479 neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties semapv:UnspecifiedMatching MONDO:0859295 neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties skos:exactMatch MEDGEN:1824001 semapv:UnspecifiedMatching MONDO:0859295 neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties skos:exactMatch OMIM:620070 neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties semapv:UnspecifiedMatching MONDO:0859295 neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties skos:exactMatch UMLS:C5774228 semapv:UnspecifiedMatching MONDO:0859296 neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss skos:exactMatch DOID:0081324 neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss semapv:UnspecifiedMatching MONDO:0859296 neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss skos:exactMatch MEDGEN:1824002 semapv:UnspecifiedMatching MONDO:0859296 neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss skos:exactMatch OMIM:620071 birk-aharoni syndrome semapv:UnspecifiedMatching MONDO:0859296 neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss skos:exactMatch UMLS:C5774229 semapv:UnspecifiedMatching MONDO:0859297 neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities skos:exactMatch MEDGEN:1824004 semapv:UnspecifiedMatching MONDO:0859297 neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities skos:exactMatch OMIM:620073 neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities semapv:UnspecifiedMatching MONDO:0859297 neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities skos:exactMatch Orphanet:662189 Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome semapv:UnspecifiedMatching MONDO:0859297 neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities skos:exactMatch UMLS:C5774231 semapv:UnspecifiedMatching MONDO:0859298 neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly skos:exactMatch MEDGEN:1824005 semapv:UnspecifiedMatching MONDO:0859298 neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly skos:exactMatch OMIM:620075 neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly semapv:UnspecifiedMatching MONDO:0859298 neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly skos:exactMatch Orphanet:698085 Global developmental delay-intellectual disability-facial dysmorphism-pseudo-Pelger-Huët anomaly syndrome semapv:UnspecifiedMatching MONDO:0859298 neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly skos:exactMatch UMLS:C5774232 semapv:UnspecifiedMatching MONDO:0859300 neuronopathy, distal hereditary motor, autosomal dominant 10 skos:exactMatch DOID:0081399 autosomal dominant distal hereditary motor neuronopathy 10 semapv:UnspecifiedMatching MONDO:0859300 neuronopathy, distal hereditary motor, autosomal dominant 10 skos:exactMatch MEDGEN:1824007 semapv:UnspecifiedMatching MONDO:0859300 neuronopathy, distal hereditary motor, autosomal dominant 10 skos:exactMatch OMIM:620080 neuronopathy, distal hereditary motor, autosomal dominant 10 semapv:UnspecifiedMatching MONDO:0859300 neuronopathy, distal hereditary motor, autosomal dominant 10 skos:exactMatch UMLS:C5774234 semapv:UnspecifiedMatching MONDO:0859301 neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects skos:exactMatch MEDGEN:1824008 semapv:UnspecifiedMatching MONDO:0859301 neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects skos:exactMatch OMIM:620083 neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects semapv:UnspecifiedMatching MONDO:0859301 neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects skos:exactMatch Orphanet:662207 Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0859301 neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects skos:exactMatch UMLS:C5774235 semapv:UnspecifiedMatching MONDO:0859302 hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2 skos:exactMatch MEDGEN:1824010 semapv:UnspecifiedMatching MONDO:0859302 hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2 skos:exactMatch OMIM:620085 hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2 semapv:UnspecifiedMatching MONDO:0859302 hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2 skos:exactMatch UMLS:C5774237 semapv:UnspecifiedMatching MONDO:0859303 intellectual developmental disorder with ocular anomalies and distinctive facial features skos:exactMatch DOID:0081301 intellectual developmental disorder with ocular anomalies and distinctive facial features semapv:UnspecifiedMatching MONDO:0859303 intellectual developmental disorder with ocular anomalies and distinctive facial features skos:exactMatch MEDGEN:1824011 semapv:UnspecifiedMatching MONDO:0859303 intellectual developmental disorder with ocular anomalies and distinctive facial features skos:exactMatch OMIM:620086 intellectual developmental disorder with ocular anomalies and distinctive facial features semapv:UnspecifiedMatching MONDO:0859303 intellectual developmental disorder with ocular anomalies and distinctive facial features skos:exactMatch UMLS:C5774238 semapv:UnspecifiedMatching MONDO:0859304 neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction skos:exactMatch MEDGEN:1824013 semapv:UnspecifiedMatching MONDO:0859304 neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction skos:exactMatch OMIM:620089 neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction semapv:UnspecifiedMatching MONDO:0859304 neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction skos:exactMatch UMLS:C5774240 semapv:UnspecifiedMatching MONDO:0859305 neurodevelopmental disorder with eye movement abnormalities and ataxia skos:exactMatch DOID:0081275 neurodevelopmental disorder with eye movement abnormalities and ataxia semapv:UnspecifiedMatching MONDO:0859305 neurodevelopmental disorder with eye movement abnormalities and ataxia skos:exactMatch MEDGEN:1824014 semapv:UnspecifiedMatching MONDO:0859305 neurodevelopmental disorder with eye movement abnormalities and ataxia skos:exactMatch OMIM:620094 neurodevelopmental disorder with eye movement abnormalities and ataxia semapv:UnspecifiedMatching MONDO:0859305 neurodevelopmental disorder with eye movement abnormalities and ataxia skos:exactMatch UMLS:C5774241 semapv:UnspecifiedMatching MONDO:0859306 developmental delay with variable intellectual disability and dysmorphic facies skos:exactMatch MEDGEN:1824015 semapv:UnspecifiedMatching MONDO:0859306 developmental delay with variable intellectual disability and dysmorphic facies skos:exactMatch OMIM:620098 developmental delay with variable intellectual disability and dysmorphic facies semapv:UnspecifiedMatching MONDO:0859306 developmental delay with variable intellectual disability and dysmorphic facies skos:exactMatch UMLS:C5774242 semapv:UnspecifiedMatching MONDO:0859307 cleidocranial dysplasia 2 skos:exactMatch MEDGEN:1824016 semapv:UnspecifiedMatching MONDO:0859307 cleidocranial dysplasia 2 skos:exactMatch OMIM:620099 cleidocranial dysplasia 2 semapv:UnspecifiedMatching MONDO:0859307 cleidocranial dysplasia 2 skos:exactMatch UMLS:C5774243 semapv:UnspecifiedMatching MONDO:0859308 retinitis pigmentosa 95 skos:exactMatch DOID:0061112 retinitis pigmentosa 95 semapv:UnspecifiedMatching MONDO:0859308 retinitis pigmentosa 95 skos:exactMatch MEDGEN:1824017 semapv:UnspecifiedMatching MONDO:0859308 retinitis pigmentosa 95 skos:exactMatch OMIM:620102 retinitis pigmentosa 95 semapv:UnspecifiedMatching MONDO:0859308 retinitis pigmentosa 95 skos:exactMatch UMLS:C5774244 semapv:UnspecifiedMatching MONDO:0859309 spastic paraplegia 88, autosomal dominant skos:exactMatch DOID:0070457 hereditary spastic paraplegia 88 semapv:UnspecifiedMatching MONDO:0859309 spastic paraplegia 88, autosomal dominant skos:exactMatch MEDGEN:1824020 semapv:UnspecifiedMatching MONDO:0859309 spastic paraplegia 88, autosomal dominant skos:exactMatch OMIM:620106 spastic paraplegia 88, autosomal dominant semapv:UnspecifiedMatching MONDO:0859309 spastic paraplegia 88, autosomal dominant skos:exactMatch UMLS:C5774247 semapv:UnspecifiedMatching MONDO:0859310 orofaciodigital syndrome 19 skos:exactMatch DOID:0060960 orofaciodigital syndrome XIX semapv:UnspecifiedMatching MONDO:0859310 orofaciodigital syndrome 19 skos:exactMatch MEDGEN:1824021 semapv:UnspecifiedMatching MONDO:0859310 orofaciodigital syndrome 19 skos:exactMatch OMIM:620107 orofaciodigital syndrome 19 semapv:UnspecifiedMatching MONDO:0859310 orofaciodigital syndrome 19 skos:exactMatch UMLS:C5774248 semapv:UnspecifiedMatching MONDO:0859311 Charcot-Marie-Tooth disease, demyelinating, type 1J skos:exactMatch MEDGEN:1824022 semapv:UnspecifiedMatching MONDO:0859311 Charcot-Marie-Tooth disease, demyelinating, type 1J skos:exactMatch OMIM:620111 charcot-marie-tooth disease, demyelinating, type 1j semapv:UnspecifiedMatching MONDO:0859311 Charcot-Marie-Tooth disease, demyelinating, type 1J skos:exactMatch UMLS:C5774249 semapv:UnspecifiedMatching MONDO:0859312 neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities skos:exactMatch MEDGEN:1824024 semapv:UnspecifiedMatching MONDO:0859312 neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities skos:exactMatch OMIM:620113 neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities semapv:UnspecifiedMatching MONDO:0859312 neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities skos:exactMatch UMLS:C5774251 semapv:UnspecifiedMatching MONDO:0859313 neurodevelopmental disorder with speech impairment and with or without seizures skos:exactMatch MEDGEN:1824025 semapv:UnspecifiedMatching MONDO:0859313 neurodevelopmental disorder with speech impairment and with or without seizures skos:exactMatch OMIM:620114 neurodevelopmental disorder with speech impairment and with or without seizures semapv:UnspecifiedMatching MONDO:0859313 neurodevelopmental disorder with speech impairment and with or without seizures skos:exactMatch UMLS:C5774252 semapv:UnspecifiedMatching MONDO:0859314 developmental and epileptic encephalopathy 108 skos:exactMatch DOID:0070394 developmental and epileptic encephalopathy 108 semapv:UnspecifiedMatching MONDO:0859314 developmental and epileptic encephalopathy 108 skos:exactMatch MEDGEN:1824026 semapv:UnspecifiedMatching MONDO:0859314 developmental and epileptic encephalopathy 108 skos:exactMatch OMIM:620115 developmental and epileptic encephalopathy 108 semapv:UnspecifiedMatching MONDO:0859314 developmental and epileptic encephalopathy 108 skos:exactMatch UMLS:C5774253 semapv:UnspecifiedMatching MONDO:0859316 iron overload, susceptibility to skos:exactMatch MEDGEN:1814970 semapv:UnspecifiedMatching MONDO:0859316 iron overload, susceptibility to skos:exactMatch OMIM:620121 iron overload, susceptibility to semapv:UnspecifiedMatching MONDO:0859316 iron overload, susceptibility to skos:exactMatch UMLS:C5703292 semapv:UnspecifiedMatching MONDO:0859317 pseudohypoaldosteronism, type IB2, autosomal recessive skos:exactMatch MEDGEN:1824028 semapv:UnspecifiedMatching MONDO:0859317 pseudohypoaldosteronism, type IB2, autosomal recessive skos:exactMatch OMIM:620125 pseudohypoaldosteronism, type ib2, autosomal recessive semapv:UnspecifiedMatching MONDO:0859317 pseudohypoaldosteronism, type IB2, autosomal recessive skos:exactMatch UMLS:C5774255 semapv:UnspecifiedMatching MONDO:0859318 pseudohypoaldosteronism, type IB3, autosomal recessive skos:exactMatch MEDGEN:1824029 semapv:UnspecifiedMatching MONDO:0859318 pseudohypoaldosteronism, type IB3, autosomal recessive skos:exactMatch OMIM:620126 pseudohypoaldosteronism, type ib3, autosomal recessive semapv:UnspecifiedMatching MONDO:0859318 pseudohypoaldosteronism, type IB3, autosomal recessive skos:exactMatch UMLS:C5774256 semapv:UnspecifiedMatching MONDO:0859319 dyskeratosis congenita, autosomal recessive 8 skos:exactMatch MEDGEN:1824030 semapv:UnspecifiedMatching MONDO:0859319 dyskeratosis congenita, autosomal recessive 8 skos:exactMatch OMIM:620133 dyskeratosis congenita, autosomal recessive 8 semapv:UnspecifiedMatching MONDO:0859319 dyskeratosis congenita, autosomal recessive 8 skos:exactMatch UMLS:C5774257 semapv:UnspecifiedMatching MONDO:0859320 mitochondrial complex I deficiency, nuclear type 39 skos:exactMatch MEDGEN:1824031 semapv:UnspecifiedMatching MONDO:0859320 mitochondrial complex I deficiency, nuclear type 39 skos:exactMatch OMIM:620135 mitochondrial complex 1 deficiency, nuclear type 39 semapv:UnspecifiedMatching MONDO:0859320 mitochondrial complex I deficiency, nuclear type 39 skos:exactMatch UMLS:C5774258 semapv:UnspecifiedMatching MONDO:0859321 mitochondrial complex III deficiency, nuclear type 11 skos:exactMatch MEDGEN:1824032 semapv:UnspecifiedMatching MONDO:0859321 mitochondrial complex III deficiency, nuclear type 11 skos:exactMatch OMIM:620137 mitochondrial complex 3 deficiency, nuclear type 11 semapv:UnspecifiedMatching MONDO:0859321 mitochondrial complex III deficiency, nuclear type 11 skos:exactMatch UMLS:C5774259 semapv:UnspecifiedMatching MONDO:0859322 myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 1 skos:exactMatch DOID:0061183 myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 1 semapv:UnspecifiedMatching MONDO:0859322 myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 1 skos:exactMatch MEDGEN:1824033 semapv:UnspecifiedMatching MONDO:0859322 myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 1 skos:exactMatch OMIM:620138 myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 1 semapv:UnspecifiedMatching MONDO:0859322 myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 1 skos:exactMatch UMLS:C5774260 semapv:UnspecifiedMatching MONDO:0859323 combined oxidative phosphorylation deficiency 56 skos:exactMatch DOID:0070429 combined oxidative phosphorylation deficiency 56 semapv:UnspecifiedMatching MONDO:0859323 combined oxidative phosphorylation deficiency 56 skos:exactMatch MEDGEN:1824034 semapv:UnspecifiedMatching MONDO:0859323 combined oxidative phosphorylation deficiency 56 skos:exactMatch OMIM:620139 combined oxidative phosphorylation deficiency 56 semapv:UnspecifiedMatching MONDO:0859323 combined oxidative phosphorylation deficiency 56 skos:exactMatch UMLS:C5774261 semapv:UnspecifiedMatching MONDO:0859324 developmental delay, language impairment, and ocular abnormalities skos:exactMatch MEDGEN:1824035 semapv:UnspecifiedMatching MONDO:0859324 developmental delay, language impairment, and ocular abnormalities skos:exactMatch OMIM:620141 developmental delay, language impairment, and ocular abnormalities semapv:UnspecifiedMatching MONDO:0859324 developmental delay, language impairment, and ocular abnormalities skos:exactMatch Orphanet:662762 Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome semapv:UnspecifiedMatching MONDO:0859324 developmental delay, language impairment, and ocular abnormalities skos:exactMatch UMLS:C5774262 semapv:UnspecifiedMatching MONDO:0859325 developmental and epileptic encephalopathy 109 skos:exactMatch DOID:0070378 developmental and epileptic encephalopathy 109 semapv:UnspecifiedMatching MONDO:0859325 developmental and epileptic encephalopathy 109 skos:exactMatch MEDGEN:1824036 semapv:UnspecifiedMatching MONDO:0859325 developmental and epileptic encephalopathy 109 skos:exactMatch OMIM:620145 developmental and epileptic encephalopathy 109 semapv:UnspecifiedMatching MONDO:0859325 developmental and epileptic encephalopathy 109 skos:exactMatch UMLS:C5774263 semapv:UnspecifiedMatching MONDO:0859327 developmental and epileptic encephalopathy 110 skos:exactMatch DOID:0070395 developmental and epileptic encephalopathy 110 semapv:UnspecifiedMatching MONDO:0859327 developmental and epileptic encephalopathy 110 skos:exactMatch MEDGEN:1824038 semapv:UnspecifiedMatching MONDO:0859327 developmental and epileptic encephalopathy 110 skos:exactMatch OMIM:620149 developmental and epileptic encephalopathy 110 semapv:UnspecifiedMatching MONDO:0859327 developmental and epileptic encephalopathy 110 skos:exactMatch UMLS:C5774265 semapv:UnspecifiedMatching MONDO:0859328 hypomagnesemia 7, renal, with or without dilated cardiomyopathy skos:exactMatch DOID:0060972 renal hypomagnesemia 7, with or without dilated cardiomyopathy semapv:UnspecifiedMatching MONDO:0859328 hypomagnesemia 7, renal, with or without dilated cardiomyopathy skos:exactMatch MEDGEN:1824039 semapv:UnspecifiedMatching MONDO:0859328 hypomagnesemia 7, renal, with or without dilated cardiomyopathy skos:exactMatch OMIM:620152 hypomagnesemia 7, renal, with or without dilated cardiomyopathy semapv:UnspecifiedMatching MONDO:0859328 hypomagnesemia 7, renal, with or without dilated cardiomyopathy skos:exactMatch UMLS:C5774266 semapv:UnspecifiedMatching MONDO:0859329 mosaic variegated aneuploidy syndrome 4 skos:exactMatch DOID:0060981 mosaic variegated aneuploidy syndrome 4 semapv:UnspecifiedMatching MONDO:0859329 mosaic variegated aneuploidy syndrome 4 skos:exactMatch MEDGEN:1824040 semapv:UnspecifiedMatching MONDO:0859329 mosaic variegated aneuploidy syndrome 4 skos:exactMatch OMIM:620153 mosaic variegated aneuploidy syndrome 4 semapv:UnspecifiedMatching MONDO:0859329 mosaic variegated aneuploidy syndrome 4 skos:exactMatch UMLS:C5774267 semapv:UnspecifiedMatching MONDO:0859330 oocyte maturation defect 13 skos:exactMatch MEDGEN:1824041 semapv:UnspecifiedMatching MONDO:0859330 oocyte maturation defect 13 skos:exactMatch OMIM:620154 oocyte/zygote/embryo maturation arrest 13 semapv:UnspecifiedMatching MONDO:0859330 oocyte maturation defect 13 skos:exactMatch UMLS:C5774268 semapv:UnspecifiedMatching MONDO:0859331 Rabin-Pappas syndrome skos:exactMatch MEDGEN:1824042 semapv:UnspecifiedMatching MONDO:0859331 Rabin-Pappas syndrome skos:exactMatch OMIM:620155 rabin-pappas syndrome semapv:UnspecifiedMatching MONDO:0859331 Rabin-Pappas syndrome skos:exactMatch UMLS:C5774269 semapv:UnspecifiedMatching MONDO:0859332 cortical dysplasia, complex, with other brain malformations 11 skos:exactMatch DOID:0061142 complex cortical dysplasia with other brain malformations 11 semapv:UnspecifiedMatching MONDO:0859332 cortical dysplasia, complex, with other brain malformations 11 skos:exactMatch MEDGEN:1824043 semapv:UnspecifiedMatching MONDO:0859332 cortical dysplasia, complex, with other brain malformations 11 skos:exactMatch OMIM:620156 cortical dysplasia, complex, with other brain malformations 11 semapv:UnspecifiedMatching MONDO:0859332 cortical dysplasia, complex, with other brain malformations 11 skos:exactMatch UMLS:C5774270 semapv:UnspecifiedMatching MONDO:0859333 intellectual developmental disorder, autosomal dominant 70 skos:exactMatch DOID:0061043 autosomal dominant intellectual developmental disorder 70 semapv:UnspecifiedMatching MONDO:0859333 intellectual developmental disorder, autosomal dominant 70 skos:exactMatch MEDGEN:1824044 semapv:UnspecifiedMatching MONDO:0859333 intellectual developmental disorder, autosomal dominant 70 skos:exactMatch OMIM:620157 intellectual developmental disorder, autosomal dominant 70 semapv:UnspecifiedMatching MONDO:0859333 intellectual developmental disorder, autosomal dominant 70 skos:exactMatch UMLS:C5774271 semapv:UnspecifiedMatching MONDO:0859334 spinocerebellar ataxia 50 skos:exactMatch MEDGEN:1824045 semapv:UnspecifiedMatching MONDO:0859334 spinocerebellar ataxia 50 skos:exactMatch OMIM:620158 spinocerebellar ataxia 50 semapv:UnspecifiedMatching MONDO:0859334 spinocerebellar ataxia 50 skos:exactMatch UMLS:C5774272 semapv:UnspecifiedMatching MONDO:0859335 congenital myopathy 15 skos:exactMatch DOID:0081347 congenital myopathy 15 semapv:UnspecifiedMatching MONDO:0859335 congenital myopathy 15 skos:exactMatch MEDGEN:1824046 semapv:UnspecifiedMatching MONDO:0859335 congenital myopathy 15 skos:exactMatch OMIM:620161 congenital myopathy 15 semapv:UnspecifiedMatching MONDO:0859335 congenital myopathy 15 skos:exactMatch UMLS:C5774273 semapv:UnspecifiedMatching MONDO:0859336 muscular dystrophy, congenital, with or without seizures skos:exactMatch MEDGEN:1824047 semapv:UnspecifiedMatching MONDO:0859336 muscular dystrophy, congenital, with or without seizures skos:exactMatch OMIM:620166 muscular dystrophy, congenital, with or without seizures semapv:UnspecifiedMatching MONDO:0859336 muscular dystrophy, congenital, with or without seizures skos:exactMatch UMLS:C5774274 semapv:UnspecifiedMatching MONDO:0859337 combined oxidative phosphorylation deficiency 57 skos:exactMatch DOID:0070430 combined oxidative phosphorylation deficiency 57 semapv:UnspecifiedMatching MONDO:0859337 combined oxidative phosphorylation deficiency 57 skos:exactMatch MEDGEN:1824048 semapv:UnspecifiedMatching MONDO:0859337 combined oxidative phosphorylation deficiency 57 skos:exactMatch OMIM:620167 combined oxidative phosphorylation deficiency 57 semapv:UnspecifiedMatching MONDO:0859337 combined oxidative phosphorylation deficiency 57 skos:exactMatch UMLS:C5774275 semapv:UnspecifiedMatching MONDO:0859338 spermatogenic failure 78 skos:exactMatch DOID:0070577 spermatogenic failure 78 semapv:UnspecifiedMatching MONDO:0859338 spermatogenic failure 78 skos:exactMatch MEDGEN:1824049 semapv:UnspecifiedMatching MONDO:0859338 spermatogenic failure 78 skos:exactMatch OMIM:620170 spermatogenic failure 78 semapv:UnspecifiedMatching MONDO:0859338 spermatogenic failure 78 skos:exactMatch UMLS:C5774276 semapv:UnspecifiedMatching MONDO:0859339 tooth agenesis, selective, 10 skos:exactMatch MEDGEN:1824050 semapv:UnspecifiedMatching MONDO:0859339 tooth agenesis, selective, 10 skos:exactMatch OMIM:620173 tooth agenesis, selective, 10 semapv:UnspecifiedMatching MONDO:0859339 tooth agenesis, selective, 10 skos:exactMatch UMLS:C5774277 semapv:UnspecifiedMatching MONDO:0859340 spinocerebellar ataxia 27B, late-onset skos:exactMatch DOID:0061137 spinocerebellar ataxia 27B semapv:UnspecifiedMatching MONDO:0859340 spinocerebellar ataxia 27B, late-onset skos:exactMatch MEDGEN:1824051 semapv:UnspecifiedMatching MONDO:0859340 spinocerebellar ataxia 27B, late-onset skos:exactMatch OMIM:620174 spinocerebellar ataxia 27b, late-onset semapv:UnspecifiedMatching MONDO:0859340 spinocerebellar ataxia 27B, late-onset skos:exactMatch Orphanet:675216 Spinocerebellar ataxia type 27B semapv:UnspecifiedMatching MONDO:0859340 spinocerebellar ataxia 27B, late-onset skos:exactMatch UMLS:C5774278 semapv:UnspecifiedMatching MONDO:0859341 hypotrichosis 15 skos:exactMatch DOID:0060968 hypotrichosis 15 semapv:UnspecifiedMatching MONDO:0859341 hypotrichosis 15 skos:exactMatch MEDGEN:1824052 semapv:UnspecifiedMatching MONDO:0859341 hypotrichosis 15 skos:exactMatch OMIM:620177 hypotrichosis 15 semapv:UnspecifiedMatching MONDO:0859341 hypotrichosis 15 skos:exactMatch UMLS:C5774279 semapv:UnspecifiedMatching MONDO:0859342 microcephaly 30, primary, autosomal recessive skos:exactMatch DOID:0051041 primary autosomal recessive microcephaly 30 semapv:UnspecifiedMatching MONDO:0859342 microcephaly 30, primary, autosomal recessive skos:exactMatch MEDGEN:1824053 semapv:UnspecifiedMatching MONDO:0859342 microcephaly 30, primary, autosomal recessive skos:exactMatch OMIM:620183 microcephaly 30, primary, autosomal recessive semapv:UnspecifiedMatching MONDO:0859342 microcephaly 30, primary, autosomal recessive skos:exactMatch UMLS:C5774280 semapv:UnspecifiedMatching MONDO:0859346 mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition skos:exactMatch DOID:0060982 mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition semapv:UnspecifiedMatching MONDO:0859346 mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition skos:exactMatch MEDGEN:1824057 semapv:UnspecifiedMatching MONDO:0859346 mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition skos:exactMatch OMIM:620189 mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition semapv:UnspecifiedMatching MONDO:0859346 mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition skos:exactMatch UMLS:C5774284 semapv:UnspecifiedMatching MONDO:0859347 neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities skos:exactMatch MEDGEN:1824058 semapv:UnspecifiedMatching MONDO:0859347 neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities skos:exactMatch OMIM:620191 neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities semapv:UnspecifiedMatching MONDO:0859347 neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities skos:exactMatch UMLS:C5774285 semapv:UnspecifiedMatching MONDO:0859350 neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies skos:exactMatch MEDGEN:1824061 semapv:UnspecifiedMatching MONDO:0859350 neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies skos:exactMatch OMIM:620194 neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies semapv:UnspecifiedMatching MONDO:0859350 neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies skos:exactMatch UMLS:C5774288 semapv:UnspecifiedMatching MONDO:0859351 obesity and hypopigmentation skos:exactMatch MEDGEN:1824062 semapv:UnspecifiedMatching MONDO:0859351 obesity and hypopigmentation skos:exactMatch OMIM:620195 obesity and hypopigmentation semapv:UnspecifiedMatching MONDO:0859351 obesity and hypopigmentation skos:exactMatch UMLS:C5774289 semapv:UnspecifiedMatching MONDO:0859352 spermatogenic failure 79 skos:exactMatch DOID:0070578 spermatogenic failure 79 semapv:UnspecifiedMatching MONDO:0859352 spermatogenic failure 79 skos:exactMatch MEDGEN:1824063 semapv:UnspecifiedMatching MONDO:0859352 spermatogenic failure 79 skos:exactMatch OMIM:620196 spermatogenic failure 79 semapv:UnspecifiedMatching MONDO:0859352 spermatogenic failure 79 skos:exactMatch UMLS:C5774290 semapv:UnspecifiedMatching MONDO:0859353 ciliary dyskinesia, primary, 49, without situs inversus skos:exactMatch MEDGEN:1824064 semapv:UnspecifiedMatching MONDO:0859353 ciliary dyskinesia, primary, 49, without situs inversus skos:exactMatch OMIM:620197 ciliary dyskinesia, primary, 49, without situs inversus semapv:UnspecifiedMatching MONDO:0859353 ciliary dyskinesia, primary, 49, without situs inversus skos:exactMatch UMLS:C5774291 semapv:UnspecifiedMatching MONDO:0859354 thyroid hormone metabolism, abnormal, 3 skos:exactMatch MEDGEN:1824065 semapv:UnspecifiedMatching MONDO:0859354 thyroid hormone metabolism, abnormal, 3 skos:exactMatch OMIM:620198 thyroid hormone metabolism, abnormal, 3 semapv:UnspecifiedMatching MONDO:0859354 thyroid hormone metabolism, abnormal, 3 skos:exactMatch UMLS:C5774292 semapv:UnspecifiedMatching MONDO:0859355 inflammatory poikiloderma with hair abnormalities and acral keratoses skos:exactMatch DOID:0070510 inflammatory poikiloderma with hair abnormalities and acral keratoses semapv:UnspecifiedMatching MONDO:0859355 inflammatory poikiloderma with hair abnormalities and acral keratoses skos:exactMatch MEDGEN:1824066 semapv:UnspecifiedMatching MONDO:0859355 inflammatory poikiloderma with hair abnormalities and acral keratoses skos:exactMatch OMIM:620199 inflammatory poikiloderma with hair abnormalities and acral keratoses semapv:UnspecifiedMatching MONDO:0859355 inflammatory poikiloderma with hair abnormalities and acral keratoses skos:exactMatch UMLS:C5774293 semapv:UnspecifiedMatching MONDO:0859356 congenital disorder of glycosylation, type IIy skos:exactMatch DOID:0051052 congenital disorder of glycosylation type IIy semapv:UnspecifiedMatching MONDO:0859356 congenital disorder of glycosylation, type IIy skos:exactMatch MEDGEN:1824067 semapv:UnspecifiedMatching MONDO:0859356 congenital disorder of glycosylation, type IIy skos:exactMatch OMIM:620200 congenital disorder of glycosylation, type iiy semapv:UnspecifiedMatching MONDO:0859356 congenital disorder of glycosylation, type IIy skos:exactMatch UMLS:C5774294 semapv:UnspecifiedMatching MONDO:0859357 congenital disorder of glycosylation, type IIz skos:exactMatch DOID:0051053 congenital disorder of glycosylation type IIz semapv:UnspecifiedMatching MONDO:0859357 congenital disorder of glycosylation, type IIz skos:exactMatch MEDGEN:1824068 semapv:UnspecifiedMatching MONDO:0859357 congenital disorder of glycosylation, type IIz skos:exactMatch OMIM:620201 congenital disorder of glycosylation, type iiz semapv:UnspecifiedMatching MONDO:0859357 congenital disorder of glycosylation, type IIz skos:exactMatch UMLS:C5774295 semapv:UnspecifiedMatching MONDO:0859358 cardiomyopathy, dilated, 2H skos:exactMatch MEDGEN:1824069 semapv:UnspecifiedMatching MONDO:0859358 cardiomyopathy, dilated, 2H skos:exactMatch OMIM:620203 cardiomyopathy, dilated, 2h semapv:UnspecifiedMatching MONDO:0859358 cardiomyopathy, dilated, 2H skos:exactMatch UMLS:C5774296 semapv:UnspecifiedMatching MONDO:0859360 spinocerebellar ataxia, autosomal recessive 33 skos:exactMatch DOID:0070414 autosomal recessive spinocerebellar ataxia 33 semapv:UnspecifiedMatching MONDO:0859360 spinocerebellar ataxia, autosomal recessive 33 skos:exactMatch MEDGEN:1824070 semapv:UnspecifiedMatching MONDO:0859360 spinocerebellar ataxia, autosomal recessive 33 skos:exactMatch OMIM:620208 spinocerebellar ataxia, autosomal recessive 33 semapv:UnspecifiedMatching MONDO:0859360 spinocerebellar ataxia, autosomal recessive 33 skos:exactMatch UMLS:C5774297 semapv:UnspecifiedMatching MONDO:0859361 neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia skos:exactMatch MEDGEN:1824071 semapv:UnspecifiedMatching MONDO:0859361 neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia skos:exactMatch OMIM:620210 neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia semapv:UnspecifiedMatching MONDO:0859361 neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia skos:exactMatch UMLS:C5774298 semapv:UnspecifiedMatching MONDO:0859362 hyperinsulinemic hypoglycemia, familial, 8 skos:exactMatch DOID:0081328 familial hyperinsulinemic hypoglycemia 8 semapv:UnspecifiedMatching MONDO:0859362 hyperinsulinemic hypoglycemia, familial, 8 skos:exactMatch MEDGEN:1824072 semapv:UnspecifiedMatching MONDO:0859362 hyperinsulinemic hypoglycemia, familial, 8 skos:exactMatch OMIM:620211 hyperinsulinemic hypoglycemia, familial, 8 semapv:UnspecifiedMatching MONDO:0859362 hyperinsulinemic hypoglycemia, familial, 8 skos:exactMatch UMLS:C5774299 semapv:UnspecifiedMatching MONDO:0859363 spastic paraplegia 79A, autosomal dominant, with ataxia skos:exactMatch DOID:0070455 hereditary spastic paraplegia 79A semapv:UnspecifiedMatching MONDO:0859363 spastic paraplegia 79A, autosomal dominant, with ataxia skos:exactMatch MEDGEN:1824073 semapv:UnspecifiedMatching MONDO:0859363 spastic paraplegia 79A, autosomal dominant, with ataxia skos:exactMatch OMIM:620221 spastic paraplegia 79a, autosomal dominant, with ataxia semapv:UnspecifiedMatching MONDO:0859363 spastic paraplegia 79A, autosomal dominant, with ataxia skos:exactMatch UMLS:C5774300 semapv:UnspecifiedMatching MONDO:0859364 spermatogenic failure 80 skos:exactMatch DOID:0070579 spermatogenic failure 80 semapv:UnspecifiedMatching MONDO:0859364 spermatogenic failure 80 skos:exactMatch MEDGEN:1824074 semapv:UnspecifiedMatching MONDO:0859364 spermatogenic failure 80 skos:exactMatch OMIM:620222 spermatogenic failure 80 semapv:UnspecifiedMatching MONDO:0859364 spermatogenic failure 80 skos:exactMatch UMLS:C5774301 semapv:UnspecifiedMatching MONDO:0859365 neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures skos:exactMatch MEDGEN:1840880 semapv:UnspecifiedMatching MONDO:0859365 neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures skos:exactMatch OMIM:620224 neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures semapv:UnspecifiedMatching MONDO:0859365 neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures skos:exactMatch UMLS:C5830244 semapv:UnspecifiedMatching MONDO:0859366 hearing loss, autosomal dominant 85 skos:exactMatch DOID:0070605 autosomal dominant nonsyndromic deafness 85 semapv:UnspecifiedMatching MONDO:0859366 hearing loss, autosomal dominant 85 skos:exactMatch MEDGEN:1824075 semapv:UnspecifiedMatching MONDO:0859366 hearing loss, autosomal dominant 85 skos:exactMatch OMIM:620227 deafness, autosomal dominant 85 semapv:UnspecifiedMatching MONDO:0859366 hearing loss, autosomal dominant 85 skos:exactMatch UMLS:C5774302 semapv:UnspecifiedMatching MONDO:0859367 retinitis pigmentosa 96 skos:exactMatch DOID:0061104 retinitis pigmentosa 96 semapv:UnspecifiedMatching MONDO:0859367 retinitis pigmentosa 96 skos:exactMatch MEDGEN:1824076 semapv:UnspecifiedMatching MONDO:0859367 retinitis pigmentosa 96 skos:exactMatch OMIM:620228 retinitis pigmentosa 96 semapv:UnspecifiedMatching MONDO:0859367 retinitis pigmentosa 96 skos:exactMatch UMLS:C5774303 semapv:UnspecifiedMatching MONDO:0859368 short QT syndrome 7 skos:exactMatch MEDGEN:1824077 semapv:UnspecifiedMatching MONDO:0859368 short QT syndrome 7 skos:exactMatch OMIM:620231 short qt syndrome 7 semapv:UnspecifiedMatching MONDO:0859368 short QT syndrome 7 skos:exactMatch UMLS:C5774304 semapv:UnspecifiedMatching MONDO:0859369 joint contractures, osteochondromas, and B-cell lymphoma skos:exactMatch MEDGEN:1824078 semapv:UnspecifiedMatching MONDO:0859369 joint contractures, osteochondromas, and B-cell lymphoma skos:exactMatch OMIM:620232 joint contractures, osteochondromas, and b-cell lymphoma semapv:UnspecifiedMatching MONDO:0859369 joint contractures, osteochondromas, and B-cell lymphoma skos:exactMatch UMLS:C5774305 semapv:UnspecifiedMatching MONDO:0859370 respiratory infections, recurrent, and failure to thrive with or without diarrhea skos:exactMatch MEDGEN:1824079 semapv:UnspecifiedMatching MONDO:0859370 respiratory infections, recurrent, and failure to thrive with or without diarrhea skos:exactMatch OMIM:620233 respiratory infections, recurrent, and failure to thrive with or without diarrhea semapv:UnspecifiedMatching MONDO:0859370 respiratory infections, recurrent, and failure to thrive with or without diarrhea skos:exactMatch UMLS:C5774306 semapv:UnspecifiedMatching MONDO:0859371 rhabdomyolysis, susceptibility to, 1 skos:exactMatch MEDGEN:1824080 semapv:UnspecifiedMatching MONDO:0859371 rhabdomyolysis, susceptibility to, 1 skos:exactMatch OMIM:620235 rhabdomyolysis, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0859371 rhabdomyolysis, susceptibility to, 1 skos:exactMatch UMLS:C5774307 semapv:UnspecifiedMatching MONDO:0859372 cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies skos:exactMatch MEDGEN:1824081 semapv:UnspecifiedMatching MONDO:0859372 cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies skos:exactMatch OMIM:620236 cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies semapv:UnspecifiedMatching MONDO:0859372 cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies skos:exactMatch UMLS:C5774308 semapv:UnspecifiedMatching MONDO:0859373 intellectual developmental disorder, autosomal recessive 78 skos:exactMatch MEDGEN:1840905 semapv:UnspecifiedMatching MONDO:0859373 intellectual developmental disorder, autosomal recessive 78 skos:exactMatch OMIM:620237 intellectual developmental disorder, autosomal recessive 78 semapv:UnspecifiedMatching MONDO:0859373 intellectual developmental disorder, autosomal recessive 78 skos:exactMatch UMLS:C5830269 semapv:UnspecifiedMatching MONDO:0859374 hearing loss, autosomal recessive 120 skos:exactMatch MEDGEN:1824082 semapv:UnspecifiedMatching MONDO:0859374 hearing loss, autosomal recessive 120 skos:exactMatch OMIM:620238 deafness, autosomal recessive 120 semapv:UnspecifiedMatching MONDO:0859374 hearing loss, autosomal recessive 120 skos:exactMatch UMLS:C5774309 semapv:UnspecifiedMatching MONDO:0859375 developmental delay with hypotonia, myopathy, and brain abnormalities skos:exactMatch MEDGEN:1840906 semapv:UnspecifiedMatching MONDO:0859375 developmental delay with hypotonia, myopathy, and brain abnormalities skos:exactMatch OMIM:620240 developmental delay with hypotonia, myopathy, and brain abnormalities semapv:UnspecifiedMatching MONDO:0859375 developmental delay with hypotonia, myopathy, and brain abnormalities skos:exactMatch UMLS:C5830270 semapv:UnspecifiedMatching MONDO:0859376 hydrocephalus, congenital, 5, susceptibility to skos:exactMatch MEDGEN:1840908 semapv:UnspecifiedMatching MONDO:0859376 hydrocephalus, congenital, 5, susceptibility to skos:exactMatch OMIM:620241 hydrocephalus, congenital, 5, susceptibility to semapv:UnspecifiedMatching MONDO:0859376 hydrocephalus, congenital, 5, susceptibility to skos:exactMatch UMLS:C5830272 semapv:UnspecifiedMatching MONDO:0859377 neurodevelopmental disorder with poor growth and behavioral abnormalities skos:exactMatch DOID:0081444 neurodevelopmental disorder with poor growth and behavioral abnormalities semapv:UnspecifiedMatching MONDO:0859377 neurodevelopmental disorder with poor growth and behavioral abnormalities skos:exactMatch MEDGEN:1840909 semapv:UnspecifiedMatching MONDO:0859377 neurodevelopmental disorder with poor growth and behavioral abnormalities skos:exactMatch OMIM:620242 neurodevelopmental disorder with poor growth and behavioral abnormalities semapv:UnspecifiedMatching MONDO:0859377 neurodevelopmental disorder with poor growth and behavioral abnormalities skos:exactMatch UMLS:C5830273 semapv:UnspecifiedMatching MONDO:0859378 leukodystrophy, hypomyelinating, 25 skos:exactMatch DOID:0070401 hypomyelinating leukodystrophy 25 semapv:UnspecifiedMatching MONDO:0859378 leukodystrophy, hypomyelinating, 25 skos:exactMatch MEDGEN:1840911 semapv:UnspecifiedMatching MONDO:0859378 leukodystrophy, hypomyelinating, 25 skos:exactMatch OMIM:620243 leukodystrophy, hypomyelinating, 25 semapv:UnspecifiedMatching MONDO:0859378 leukodystrophy, hypomyelinating, 25 skos:exactMatch UMLS:C5830275 semapv:UnspecifiedMatching MONDO:0859379 lymphatic malformation 13 skos:exactMatch MEDGEN:1840915 semapv:UnspecifiedMatching MONDO:0859379 lymphatic malformation 13 skos:exactMatch OMIM:620244 lymphatic malformation 13 semapv:UnspecifiedMatching MONDO:0859379 lymphatic malformation 13 skos:exactMatch UMLS:C5830279 semapv:UnspecifiedMatching MONDO:0859380 episodic kinesigenic dyskinesia 3 skos:exactMatch DOID:0060944 episodic kinesigenic dyskinesia 3 semapv:UnspecifiedMatching MONDO:0859380 episodic kinesigenic dyskinesia 3 skos:exactMatch MEDGEN:1840916 semapv:UnspecifiedMatching MONDO:0859380 episodic kinesigenic dyskinesia 3 skos:exactMatch OMIM:620245 episodic kinesigenic dyskinesia 3 semapv:UnspecifiedMatching MONDO:0859380 episodic kinesigenic dyskinesia 3 skos:exactMatch UMLS:C5830280 semapv:UnspecifiedMatching MONDO:0859381 cardiomyopathy, dilated, 100 skos:exactMatch MEDGEN:1840927 semapv:UnspecifiedMatching MONDO:0859381 cardiomyopathy, dilated, 100 skos:exactMatch OMIM:620247 cardiomyopathy, dilated, 1oo semapv:UnspecifiedMatching MONDO:0859381 cardiomyopathy, dilated, 100 skos:exactMatch UMLS:C5830291 semapv:UnspecifiedMatching MONDO:0859382 cataract 50 with or without glaucoma skos:exactMatch MEDGEN:1840935 semapv:UnspecifiedMatching MONDO:0859382 cataract 50 with or without glaucoma skos:exactMatch OMIM:620253 cataract 50 with or without glaucoma semapv:UnspecifiedMatching MONDO:0859382 cataract 50 with or without glaucoma skos:exactMatch UMLS:C5830299 semapv:UnspecifiedMatching MONDO:0859383 ichthyosis hystrix skos:exactMatch MEDGEN:75527 semapv:UnspecifiedMatching MONDO:0859383 ichthyosis hystrix skos:exactMatch OMIMPS:146590 Ichthyosis hystrix semapv:UnspecifiedMatching MONDO:0859383 ichthyosis hystrix skos:exactMatch UMLS:C0263580 semapv:UnspecifiedMatching MONDO:0859390 epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features skos:exactMatch OMIMPS:300491 Epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features semapv:UnspecifiedMatching MONDO:0859393 Atelis syndrome skos:exactMatch OMIMPS:620184 Atelis syndrome semapv:UnspecifiedMatching MONDO:0859477 spermatogenic failure, X-linked, 5 skos:exactMatch DOID:0070596 X-linked spermatogenic failure 5 semapv:UnspecifiedMatching MONDO:0859477 spermatogenic failure, X-linked, 5 skos:exactMatch MEDGEN:1840194 semapv:UnspecifiedMatching MONDO:0859477 spermatogenic failure, X-linked, 5 skos:exactMatch OMIM:301099 spermatogenic failure, x-linked, 5 semapv:UnspecifiedMatching MONDO:0859477 spermatogenic failure, X-linked, 5 skos:exactMatch UMLS:C5829558 semapv:UnspecifiedMatching MONDO:0859478 spermatogenic failure, X-linked, 6 skos:exactMatch DOID:0070597 X-linked spermatogenic failure 6 semapv:UnspecifiedMatching MONDO:0859478 spermatogenic failure, X-linked, 6 skos:exactMatch MEDGEN:1840198 semapv:UnspecifiedMatching MONDO:0859478 spermatogenic failure, X-linked, 6 skos:exactMatch OMIM:301101 spermatogenic failure, x-linked, 6 semapv:UnspecifiedMatching MONDO:0859478 spermatogenic failure, X-linked, 6 skos:exactMatch UMLS:C5829562 semapv:UnspecifiedMatching MONDO:0859514 congenital myopathy 18 skos:exactMatch DOID:0081350 congenital myopathy 18 semapv:UnspecifiedMatching MONDO:0859514 congenital myopathy 18 skos:exactMatch MEDGEN:1840919 semapv:UnspecifiedMatching MONDO:0859514 congenital myopathy 18 skos:exactMatch OMIM:620246 congenital myopathy 18 semapv:UnspecifiedMatching MONDO:0859514 congenital myopathy 18 skos:exactMatch UMLS:C5830283 semapv:UnspecifiedMatching MONDO:0859515 congenital myopathy 10b, mild variant skos:exactMatch DOID:0081345 congenital myopathy 10B semapv:UnspecifiedMatching MONDO:0859515 congenital myopathy 10b, mild variant skos:exactMatch MEDGEN:762102 semapv:UnspecifiedMatching MONDO:0859515 congenital myopathy 10b, mild variant skos:exactMatch OMIM:620249 congenital myopathy 10b, mild variant semapv:UnspecifiedMatching MONDO:0859515 congenital myopathy 10b, mild variant skos:exactMatch UMLS:C3541476 semapv:UnspecifiedMatching MONDO:0859516 neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum skos:exactMatch MEDGEN:1840932 semapv:UnspecifiedMatching MONDO:0859516 neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum skos:exactMatch OMIM:620250 neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum semapv:UnspecifiedMatching MONDO:0859516 neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum skos:exactMatch UMLS:C5830296 semapv:UnspecifiedMatching MONDO:0859517 congenital myopathy 2b, severe infantile, autosomal recessive skos:exactMatch DOID:0081339 congenital myopathy 2B semapv:UnspecifiedMatching MONDO:0859517 congenital myopathy 2b, severe infantile, autosomal recessive skos:exactMatch MEDGEN:1840936 semapv:UnspecifiedMatching MONDO:0859517 congenital myopathy 2b, severe infantile, autosomal recessive skos:exactMatch OMIM:620265 congenital myopathy 2b, severe infantile, autosomal recessive semapv:UnspecifiedMatching MONDO:0859517 congenital myopathy 2b, severe infantile, autosomal recessive skos:exactMatch UMLS:C5830300 semapv:UnspecifiedMatching MONDO:0859518 leukodystrophy, hypomyelinating, 26, with chondrodysplasia skos:exactMatch DOID:0070403 hypomyelinating leukodystrophy 26 semapv:UnspecifiedMatching MONDO:0859518 leukodystrophy, hypomyelinating, 26, with chondrodysplasia skos:exactMatch MEDGEN:1840948 semapv:UnspecifiedMatching MONDO:0859518 leukodystrophy, hypomyelinating, 26, with chondrodysplasia skos:exactMatch OMIM:620269 leukodystrophy, hypomyelinating, 26, with chondrodysplasia semapv:UnspecifiedMatching MONDO:0859518 leukodystrophy, hypomyelinating, 26, with chondrodysplasia skos:exactMatch UMLS:C5830312 semapv:UnspecifiedMatching MONDO:0859519 neurodevelopmental disorder with absent speech and movement and behavioral abnormalities skos:exactMatch MEDGEN:1840955 semapv:UnspecifiedMatching MONDO:0859519 neurodevelopmental disorder with absent speech and movement and behavioral abnormalities skos:exactMatch OMIM:620270 neurodevelopmental disorder with absent speech and movement and behavioral abnormalities semapv:UnspecifiedMatching MONDO:0859519 neurodevelopmental disorder with absent speech and movement and behavioral abnormalities skos:exactMatch UMLS:C5830319 semapv:UnspecifiedMatching MONDO:0859520 mitochondrial complex IV deficiency, nuclear type 23 skos:exactMatch DOID:0070485 mitochondrial complex IV deficiency nuclear type 23 semapv:UnspecifiedMatching MONDO:0859520 mitochondrial complex IV deficiency, nuclear type 23 skos:exactMatch MEDGEN:1840958 semapv:UnspecifiedMatching MONDO:0859520 mitochondrial complex IV deficiency, nuclear type 23 skos:exactMatch OMIM:620275 mitochondrial complex 4 deficiency, nuclear type 23 semapv:UnspecifiedMatching MONDO:0859520 mitochondrial complex IV deficiency, nuclear type 23 skos:exactMatch UMLS:C5830322 semapv:UnspecifiedMatching MONDO:0859521 oocyte maturation defect 14 skos:exactMatch MEDGEN:1840962 semapv:UnspecifiedMatching MONDO:0859521 oocyte maturation defect 14 skos:exactMatch OMIM:620276 oocyte/zygote/embryo maturation arrest 14 semapv:UnspecifiedMatching MONDO:0859521 oocyte maturation defect 14 skos:exactMatch UMLS:C5830326 semapv:UnspecifiedMatching MONDO:0859522 spermatogenic failure 81 skos:exactMatch DOID:0070580 spermatogenic failure 81 semapv:UnspecifiedMatching MONDO:0859522 spermatogenic failure 81 skos:exactMatch MEDGEN:1840965 semapv:UnspecifiedMatching MONDO:0859522 spermatogenic failure 81 skos:exactMatch OMIM:620277 spermatogenic failure 81 semapv:UnspecifiedMatching MONDO:0859522 spermatogenic failure 81 skos:exactMatch UMLS:C5830329 semapv:UnspecifiedMatching MONDO:0859523 congenital myopathy 2c, severe infantile, autosomal dominant skos:exactMatch DOID:0081340 congenital myopathy 2C semapv:UnspecifiedMatching MONDO:0859523 congenital myopathy 2c, severe infantile, autosomal dominant skos:exactMatch MEDGEN:1840969 semapv:UnspecifiedMatching MONDO:0859523 congenital myopathy 2c, severe infantile, autosomal dominant skos:exactMatch OMIM:620278 congenital myopathy 2c, severe infantile, autosomal dominant semapv:UnspecifiedMatching MONDO:0859523 congenital myopathy 2c, severe infantile, autosomal dominant skos:exactMatch UMLS:C5830333 semapv:UnspecifiedMatching MONDO:0859524 hearing loss, autosomal dominant 86 skos:exactMatch DOID:0070610 autosomal dominant nonsyndromic deafness 86 semapv:UnspecifiedMatching MONDO:0859524 hearing loss, autosomal dominant 86 skos:exactMatch MEDGEN:1840976 semapv:UnspecifiedMatching MONDO:0859524 hearing loss, autosomal dominant 86 skos:exactMatch OMIM:620280 deafness, autosomal dominant 86 semapv:UnspecifiedMatching MONDO:0859524 hearing loss, autosomal dominant 86 skos:exactMatch UMLS:C5830340 semapv:UnspecifiedMatching MONDO:0859525 hearing loss, autosomal dominant 87 skos:exactMatch DOID:0070606 autosomal dominant nonsyndromic deafness 87 semapv:UnspecifiedMatching MONDO:0859525 hearing loss, autosomal dominant 87 skos:exactMatch MEDGEN:1840978 semapv:UnspecifiedMatching MONDO:0859525 hearing loss, autosomal dominant 87 skos:exactMatch OMIM:620281 deafness, autosomal dominant 87 semapv:UnspecifiedMatching MONDO:0859525 hearing loss, autosomal dominant 87 skos:exactMatch UMLS:C5830342 semapv:UnspecifiedMatching MONDO:0859526 immunodeficiency 109 with lymphoproliferation skos:exactMatch DOID:0061078 immunodeficiency 109 semapv:UnspecifiedMatching MONDO:0859526 immunodeficiency 109 with lymphoproliferation skos:exactMatch MEDGEN:1840982 semapv:UnspecifiedMatching MONDO:0859526 immunodeficiency 109 with lymphoproliferation skos:exactMatch OMIM:620282 immunodeficiency 109 with lymphoproliferation semapv:UnspecifiedMatching MONDO:0859526 immunodeficiency 109 with lymphoproliferation skos:exactMatch Orphanet:664726 EBV-induced lymphoproliferative disease due to CD137 deficiency semapv:UnspecifiedMatching MONDO:0859526 immunodeficiency 109 with lymphoproliferation skos:exactMatch UMLS:C5830346 semapv:UnspecifiedMatching MONDO:0859527 hearing loss, autosomal dominant 88 skos:exactMatch DOID:0070611 autosomal dominant nonsyndromic deafness 88 semapv:UnspecifiedMatching MONDO:0859527 hearing loss, autosomal dominant 88 skos:exactMatch MEDGEN:1840991 semapv:UnspecifiedMatching MONDO:0859527 hearing loss, autosomal dominant 88 skos:exactMatch OMIM:620283 deafness, autosomal dominant 88 semapv:UnspecifiedMatching MONDO:0859527 hearing loss, autosomal dominant 88 skos:exactMatch UMLS:C5830355 semapv:UnspecifiedMatching MONDO:0859528 hearing loss, autosomal dominant 89 skos:exactMatch DOID:0070612 autosomal dominant nonsyndromic deafness 89 semapv:UnspecifiedMatching MONDO:0859528 hearing loss, autosomal dominant 89 skos:exactMatch MEDGEN:1840993 semapv:UnspecifiedMatching MONDO:0859528 hearing loss, autosomal dominant 89 skos:exactMatch OMIM:620284 deafness, autosomal dominant 89 semapv:UnspecifiedMatching MONDO:0859528 hearing loss, autosomal dominant 89 skos:exactMatch UMLS:C5830357 semapv:UnspecifiedMatching MONDO:0859529 amyotrophic lateral sclerosis 27, juvenile skos:exactMatch DOID:0081381 juvenile amyotrophic lateral sclerosis type 27 semapv:UnspecifiedMatching MONDO:0859529 amyotrophic lateral sclerosis 27, juvenile skos:exactMatch MEDGEN:1840995 semapv:UnspecifiedMatching MONDO:0859529 amyotrophic lateral sclerosis 27, juvenile skos:exactMatch OMIM:620285 amyotrophic lateral sclerosis 27, juvenile semapv:UnspecifiedMatching MONDO:0859529 amyotrophic lateral sclerosis 27, juvenile skos:exactMatch UMLS:C5830359 semapv:UnspecifiedMatching MONDO:0859530 myopathy, sarcoplasmic body skos:exactMatch MEDGEN:1840998 semapv:UnspecifiedMatching MONDO:0859530 myopathy, sarcoplasmic body skos:exactMatch OMIM:620286 myopathy, sarcoplasmic body semapv:UnspecifiedMatching MONDO:0859530 myopathy, sarcoplasmic body skos:exactMatch UMLS:C5830362 semapv:UnspecifiedMatching MONDO:0859531 neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures skos:exactMatch MEDGEN:1841001 semapv:UnspecifiedMatching MONDO:0859531 neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures skos:exactMatch OMIM:620292 neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures semapv:UnspecifiedMatching MONDO:0859531 neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures skos:exactMatch UMLS:C5830365 semapv:UnspecifiedMatching MONDO:0859532 congenital heart defects, multiple types, 9 skos:exactMatch MEDGEN:1841003 semapv:UnspecifiedMatching MONDO:0859532 congenital heart defects, multiple types, 9 skos:exactMatch OMIM:620294 congenital heart defects, multiple types, 9 semapv:UnspecifiedMatching MONDO:0859532 congenital heart defects, multiple types, 9 skos:exactMatch UMLS:C5830367 semapv:UnspecifiedMatching MONDO:0859564 epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features skos:exactMatch MEDGEN:1823952 semapv:UnspecifiedMatching MONDO:0859564 epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features skos:exactMatch OMIM:301091 epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features semapv:UnspecifiedMatching MONDO:0859564 epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features skos:exactMatch UMLS:C5774178 semapv:UnspecifiedMatching MONDO:0859565 atrioventricular septal defect skos:exactMatch MEDGEN:501123 semapv:UnspecifiedMatching MONDO:0859565 atrioventricular septal defect skos:exactMatch OMIM:606215 atrioventricular septal defect semapv:UnspecifiedMatching MONDO:0859565 atrioventricular septal defect skos:exactMatch UMLS:C1389018 semapv:UnspecifiedMatching MONDO:0859567 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 skos:exactMatch DOID:0081125 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 semapv:UnspecifiedMatching MONDO:0859567 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 skos:exactMatch MEDGEN:1803802 semapv:UnspecifiedMatching MONDO:0859567 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 skos:exactMatch OMIM:616994 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 semapv:UnspecifiedMatching MONDO:0859567 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 skos:exactMatch UMLS:C5676895 semapv:UnspecifiedMatching MONDO:0859568 macular dystrophy, retinal, 4 skos:exactMatch DOID:0070441 retinal macular dystrophy 4 semapv:UnspecifiedMatching MONDO:0859568 macular dystrophy, retinal, 4 skos:exactMatch MEDGEN:1823960 semapv:UnspecifiedMatching MONDO:0859568 macular dystrophy, retinal, 4 skos:exactMatch OMIM:619977 macular dystrophy, retinal, 4 semapv:UnspecifiedMatching MONDO:0859568 macular dystrophy, retinal, 4 skos:exactMatch UMLS:C5774187 semapv:UnspecifiedMatching MONDO:0859569 Braddock-Carey syndrome 1 skos:exactMatch MEDGEN:1823961 semapv:UnspecifiedMatching MONDO:0859569 Braddock-Carey syndrome 1 skos:exactMatch OMIM:619980 braddock-carey syndrome 1 semapv:UnspecifiedMatching MONDO:0859569 Braddock-Carey syndrome 1 skos:exactMatch UMLS:C5774188 semapv:UnspecifiedMatching MONDO:0859570 braddock-carey syndrome 2 skos:exactMatch MEDGEN:1823962 semapv:UnspecifiedMatching MONDO:0859570 braddock-carey syndrome 2 skos:exactMatch OMIM:619981 braddock-carey syndrome 2 semapv:UnspecifiedMatching MONDO:0859570 braddock-carey syndrome 2 skos:exactMatch UMLS:C5774189 semapv:UnspecifiedMatching MONDO:0859571 diaphragmatic hernia 4, with cardiovascular defects skos:exactMatch MEDGEN:1823983 semapv:UnspecifiedMatching MONDO:0859571 diaphragmatic hernia 4, with cardiovascular defects skos:exactMatch OMIM:620025 diaphragmatic hernia 4, with cardiovascular defects semapv:UnspecifiedMatching MONDO:0859571 diaphragmatic hernia 4, with cardiovascular defects skos:exactMatch UMLS:C5774210 semapv:UnspecifiedMatching MONDO:0859572 cardiac valvular dysplasia 2 skos:exactMatch MEDGEN:1823999 semapv:UnspecifiedMatching MONDO:0859572 cardiac valvular dysplasia 2 skos:exactMatch OMIM:620067 cardiac valvular dysplasia 2 semapv:UnspecifiedMatching MONDO:0859572 cardiac valvular dysplasia 2 skos:exactMatch UMLS:C5774226 semapv:UnspecifiedMatching MONDO:0859573 bent bone dysplasia syndrome 2 skos:exactMatch DOID:0060993 bent bone dysplasia syndrome 2 semapv:UnspecifiedMatching MONDO:0859573 bent bone dysplasia syndrome 2 skos:exactMatch MEDGEN:1824006 semapv:UnspecifiedMatching MONDO:0859573 bent bone dysplasia syndrome 2 skos:exactMatch OMIM:620076 bent bone dysplasia syndrome 2 semapv:UnspecifiedMatching MONDO:0859573 bent bone dysplasia syndrome 2 skos:exactMatch UMLS:C5774233 semapv:UnspecifiedMatching MONDO:0859574 ichthyosis, annular epidermolytic, 2 skos:exactMatch MEDGEN:1824037 semapv:UnspecifiedMatching MONDO:0859574 ichthyosis, annular epidermolytic, 2 skos:exactMatch OMIM:620148 ichthyosis, annular epidermolytic, 2 semapv:UnspecifiedMatching MONDO:0859574 ichthyosis, annular epidermolytic, 2 skos:exactMatch UMLS:C5774264 semapv:UnspecifiedMatching MONDO:0859575 Atelis syndrome 1 skos:exactMatch MEDGEN:1824054 semapv:UnspecifiedMatching MONDO:0859575 Atelis syndrome 1 skos:exactMatch OMIM:620184 atelis syndrome 1 semapv:UnspecifiedMatching MONDO:0859575 Atelis syndrome 1 skos:exactMatch UMLS:C5774281 semapv:UnspecifiedMatching MONDO:0859576 Atelis syndrome 2 skos:exactMatch MEDGEN:1824055 semapv:UnspecifiedMatching MONDO:0859576 Atelis syndrome 2 skos:exactMatch OMIM:620185 atelis syndrome 2 semapv:UnspecifiedMatching MONDO:0859576 Atelis syndrome 2 skos:exactMatch UMLS:C5774282 semapv:UnspecifiedMatching MONDO:0859577 lacrimoauriculodentodigital syndrome 2 skos:exactMatch DOID:0081371 lacrimoauriculodentodigital syndrome 2 semapv:UnspecifiedMatching MONDO:0859577 lacrimoauriculodentodigital syndrome 2 skos:exactMatch MEDGEN:1824059 semapv:UnspecifiedMatching MONDO:0859577 lacrimoauriculodentodigital syndrome 2 skos:exactMatch OMIM:620192 lacrimoauriculodentodigital syndrome 2 semapv:UnspecifiedMatching MONDO:0859577 lacrimoauriculodentodigital syndrome 2 skos:exactMatch UMLS:C5774286 semapv:UnspecifiedMatching MONDO:0859578 lacrimoauriculodentodigital syndrome 3 skos:exactMatch DOID:0081372 lacrimoauriculodentodigital syndrome 3 semapv:UnspecifiedMatching MONDO:0859578 lacrimoauriculodentodigital syndrome 3 skos:exactMatch MEDGEN:1824060 semapv:UnspecifiedMatching MONDO:0859578 lacrimoauriculodentodigital syndrome 3 skos:exactMatch OMIM:620193 lacrimoauriculodentodigital syndrome 3 semapv:UnspecifiedMatching MONDO:0859578 lacrimoauriculodentodigital syndrome 3 skos:exactMatch UMLS:C5774287 semapv:UnspecifiedMatching MONDO:0859588 keratosis pilaris atrophicans faciei skos:exactMatch DOID:0080752 keratosis pilaris atrophicans faciei semapv:UnspecifiedMatching MONDO:0859591 childhood low-grade glioma skos:exactMatch DOID:0080830 childhood low-grade glioma semapv:UnspecifiedMatching MONDO:0859591 childhood low-grade glioma skos:exactMatch MEDGEN:1861125 semapv:UnspecifiedMatching MONDO:0859591 childhood low-grade glioma skos:exactMatch NCIT:C202299 Childhood Low Grade Glioma semapv:UnspecifiedMatching MONDO:0859591 childhood low-grade glioma skos:exactMatch UMLS:C5908420 semapv:UnspecifiedMatching MONDO:0859592 IDH-mutant and 1p/19q-codeleted oligodendroglioma skos:exactMatch DOID:0080882 IDH-mutant and 1p/19q-codeleted oligodendroglioma semapv:UnspecifiedMatching MONDO:0859592 IDH-mutant and 1p/19q-codeleted oligodendroglioma skos:exactMatch MEDGEN:926090 semapv:UnspecifiedMatching MONDO:0859592 IDH-mutant and 1p/19q-codeleted oligodendroglioma skos:exactMatch NCIT:C129318 Oligodendroglioma, IDH-Mutant and 1p/19q-Codeleted semapv:UnspecifiedMatching MONDO:0859592 IDH-mutant and 1p/19q-codeleted oligodendroglioma skos:exactMatch UMLS:C4288558 semapv:UnspecifiedMatching MONDO:0859597 cns neuroblastoma with FOXR2 activation skos:exactMatch DOID:0080906 CNS neuroblastoma with FOXR2 activation semapv:UnspecifiedMatching MONDO:0859597 cns neuroblastoma with FOXR2 activation skos:exactMatch NCIT:C186547 Central Nervous System Neuroblastoma, FOXR2-Activated semapv:UnspecifiedMatching MONDO:0859598 erythroleukemia skos:exactMatch DOID:0080916 erythroleukemia semapv:UnspecifiedMatching MONDO:0859598 erythroleukemia skos:exactMatch MEDGEN:1614281 semapv:UnspecifiedMatching MONDO:0859598 erythroleukemia skos:exactMatch NCIT:C7152 Erythroleukemia semapv:UnspecifiedMatching MONDO:0859598 erythroleukemia skos:exactMatch UMLS:C4520840 semapv:UnspecifiedMatching MONDO:0859614 diffuse low-grade glioma, MAPK pathway–altered skos:exactMatch DOID:0081260 diffuse low-grade glioma, MAPK pathway–altered semapv:UnspecifiedMatching MONDO:0859614 diffuse low-grade glioma, MAPK pathway–altered skos:exactMatch NCIT:C185218 Diffuse Low Grade Glioma, MAPK Pathway-Altered semapv:UnspecifiedMatching MONDO:0859615 diffuse astrocytoma, MYB- or MYBL1-altered skos:exactMatch DOID:0081279 diffuse astrocytoma, MYB- or MYBL1-altered semapv:UnspecifiedMatching MONDO:0859689 hepatobiliary benign neoplasm skos:exactMatch DOID:3117 hepatobiliary benign neoplasm semapv:UnspecifiedMatching MONDO:0859690 malignant cystadenoma skos:exactMatch DOID:60004 malignant cystadenoma semapv:UnspecifiedMatching MONDO:0859692 immune-mediated cerebellar ataxia skos:exactMatch MEDGEN:1814462 semapv:UnspecifiedMatching MONDO:0859692 immune-mediated cerebellar ataxia skos:exactMatch Orphanet:623638 Immune-mediated cerebellar ataxia semapv:UnspecifiedMatching MONDO:0859692 immune-mediated cerebellar ataxia skos:exactMatch UMLS:C5680410 semapv:UnspecifiedMatching MONDO:0859747 grade I lymphomatoid granulomatosis skos:exactMatch DOID:0081308 grade I lymphomatoid granulomatosis semapv:UnspecifiedMatching MONDO:0859747 grade I lymphomatoid granulomatosis skos:exactMatch MEDGEN:83443 semapv:UnspecifiedMatching MONDO:0859747 grade I lymphomatoid granulomatosis skos:exactMatch NCIT:C7931 Grade I Lymphomatoid Granulomatosis semapv:UnspecifiedMatching MONDO:0859747 grade I lymphomatoid granulomatosis skos:exactMatch UMLS:C0279065 semapv:UnspecifiedMatching MONDO:0859748 grade II lymphomatoid granulomatosis skos:exactMatch DOID:0081309 grade II lymphomatoid granulomatosis semapv:UnspecifiedMatching MONDO:0859748 grade II lymphomatoid granulomatosis skos:exactMatch MEDGEN:167833 semapv:UnspecifiedMatching MONDO:0859748 grade II lymphomatoid granulomatosis skos:exactMatch NCIT:C7932 Grade II Lymphomatoid Granulomatosis semapv:UnspecifiedMatching MONDO:0859748 grade II lymphomatoid granulomatosis skos:exactMatch UMLS:C0862090 semapv:UnspecifiedMatching MONDO:0859749 grade III lymphomatoid granulomatosis skos:exactMatch DOID:0081310 grade III lymphomatoid granulomatosis semapv:UnspecifiedMatching MONDO:0859749 grade III lymphomatoid granulomatosis skos:exactMatch MEDGEN:78928 semapv:UnspecifiedMatching MONDO:0859749 grade III lymphomatoid granulomatosis skos:exactMatch NCIT:C7933 Grade III Lymphomatoid Granulomatosis semapv:UnspecifiedMatching MONDO:0859749 grade III lymphomatoid granulomatosis skos:exactMatch UMLS:C0279067 semapv:UnspecifiedMatching MONDO:0859763 mosaic neurofibromatosis type 1 skos:exactMatch MEDGEN:1843428 semapv:UnspecifiedMatching MONDO:0859763 mosaic neurofibromatosis type 1 skos:exactMatch Orphanet:634461 Mosaic neurofibromatosis type 1 semapv:UnspecifiedMatching MONDO:0859763 mosaic neurofibromatosis type 1 skos:exactMatch UMLS:C5782097 semapv:UnspecifiedMatching MONDO:0859764 mosaic NF2-related schwannomatosis skos:exactMatch MEDGEN:1843426 semapv:UnspecifiedMatching MONDO:0859764 mosaic NF2-related schwannomatosis skos:exactMatch Orphanet:634475 Mosaic NF2-related schwannomatosis semapv:UnspecifiedMatching MONDO:0859764 mosaic NF2-related schwannomatosis skos:exactMatch UMLS:C5816778 semapv:UnspecifiedMatching MONDO:0859765 mosaic schwannomatosis skos:exactMatch MEDGEN:1843393 semapv:UnspecifiedMatching MONDO:0859765 mosaic schwannomatosis skos:exactMatch Orphanet:634492 Mosaic schwannomatosis semapv:UnspecifiedMatching MONDO:0859765 mosaic schwannomatosis skos:exactMatch UMLS:C5816779 semapv:UnspecifiedMatching MONDO:0956962 benign teratoma skos:exactMatch DOID:0080602 benign teratoma semapv:UnspecifiedMatching MONDO:0956962 benign teratoma skos:exactMatch MEDGEN:361206 semapv:UnspecifiedMatching MONDO:0956962 benign teratoma skos:exactMatch NCIT:C67107 Benign Teratoma semapv:UnspecifiedMatching MONDO:0956962 benign teratoma skos:exactMatch UMLS:C1879828 semapv:UnspecifiedMatching MONDO:0956964 medulloblastoma SHH activated and TP53 mutant skos:exactMatch DOID:0080704 medulloblastoma SHH activated and TP53 mutant semapv:UnspecifiedMatching MONDO:0956964 medulloblastoma SHH activated and TP53 mutant skos:exactMatch NCIT:C129442 Medulloblastoma, SHH-Activated, TP53-Mutant semapv:UnspecifiedMatching MONDO:0956965 medulloblastoma SHH activated and TP53 wild-type skos:exactMatch DOID:0080705 medulloblastoma SHH activated and TP53 wild-type semapv:UnspecifiedMatching MONDO:0956965 medulloblastoma SHH activated and TP53 wild-type skos:exactMatch NCIT:C129443 Medulloblastoma, SHH-Activated, TP53-Wildtype semapv:UnspecifiedMatching MONDO:0956966 medulloblastoma non-WNT/non-SHH group 3 skos:exactMatch DOID:0080707 medulloblastoma non-WNT/non-SHH group 3 semapv:UnspecifiedMatching MONDO:0956966 medulloblastoma non-WNT/non-SHH group 3 skos:exactMatch MEDGEN:1389944 semapv:UnspecifiedMatching MONDO:0956966 medulloblastoma non-WNT/non-SHH group 3 skos:exactMatch NCIT:C129445 Medulloblastoma, Non-WNT/Non-SHH, Group 3 semapv:UnspecifiedMatching MONDO:0956966 medulloblastoma non-WNT/non-SHH group 3 skos:exactMatch UMLS:C4330665 semapv:UnspecifiedMatching MONDO:0956967 medulloblastoma non-WNT/non-SHH group 4 skos:exactMatch DOID:0080708 medulloblastoma non-WNT/non-SHH group 4 semapv:UnspecifiedMatching MONDO:0956967 medulloblastoma non-WNT/non-SHH group 4 skos:exactMatch MEDGEN:1377534 semapv:UnspecifiedMatching MONDO:0956967 medulloblastoma non-WNT/non-SHH group 4 skos:exactMatch NCIT:C129446 Medulloblastoma, Non-WNT/Non-SHH, Group 4 semapv:UnspecifiedMatching MONDO:0956967 medulloblastoma non-WNT/non-SHH group 4 skos:exactMatch UMLS:C4330666 semapv:UnspecifiedMatching MONDO:0956969 chronic inducible urticaria skos:exactMatch DOID:0080748 chronic inducible urticaria semapv:UnspecifiedMatching MONDO:0956969 chronic inducible urticaria skos:exactMatch MEDGEN:1678519 semapv:UnspecifiedMatching MONDO:0956969 chronic inducible urticaria skos:exactMatch UMLS:C5197720 semapv:UnspecifiedMatching MONDO:0956971 intermittent asthma skos:exactMatch DOID:0080812 intermittent asthma semapv:UnspecifiedMatching MONDO:0956971 intermittent asthma skos:exactMatch MEDGEN:740576 semapv:UnspecifiedMatching MONDO:0956971 intermittent asthma skos:exactMatch UMLS:C1740754 semapv:UnspecifiedMatching MONDO:0956975 T2-high asthma skos:exactMatch DOID:0080817 T2-high asthma semapv:UnspecifiedMatching MONDO:0956976 T2-low asthma skos:exactMatch DOID:0080818 T2-low asthma semapv:UnspecifiedMatching MONDO:0956977 near-fatal asthma skos:exactMatch DOID:0080823 near-fatal asthma semapv:UnspecifiedMatching MONDO:0956977 near-fatal asthma skos:exactMatch MEDGEN:1673783 semapv:UnspecifiedMatching MONDO:0956977 near-fatal asthma skos:exactMatch UMLS:C5192201 semapv:UnspecifiedMatching MONDO:0956979 nocturnal asthma skos:exactMatch DOID:0080826 nocturnal asthma semapv:UnspecifiedMatching MONDO:0956979 nocturnal asthma skos:exactMatch MEDGEN:696950 semapv:UnspecifiedMatching MONDO:0956979 nocturnal asthma skos:exactMatch UMLS:C1273489 semapv:UnspecifiedMatching MONDO:0956980 vascular parkinsonism skos:exactMatch DOID:0080856 vascular Parkinsonism semapv:UnspecifiedMatching MONDO:0956980 vascular parkinsonism skos:exactMatch ICD10CM:G21.4 Vascular parkinsonism semapv:UnspecifiedMatching MONDO:0956980 vascular parkinsonism skos:exactMatch MEDGEN:581453 semapv:UnspecifiedMatching MONDO:0956980 vascular parkinsonism skos:exactMatch UMLS:C0393568 semapv:UnspecifiedMatching MONDO:0956980 vascular parkinsonism skos:exactMatch icd11.foundation:1852145464 Vascular parkinsonism semapv:UnspecifiedMatching MONDO:0956981 astrocytoma, IDH-mutant, grade 4 skos:exactMatch DOID:0080877 astrocytoma, IDH-mutant, grade 4 semapv:UnspecifiedMatching MONDO:0956981 astrocytoma, IDH-mutant, grade 4 skos:exactMatch MEDGEN:1718223 semapv:UnspecifiedMatching MONDO:0956981 astrocytoma, IDH-mutant, grade 4 skos:exactMatch NCIT:C167335 Astrocytoma, IDH-Mutant, Grade 4 semapv:UnspecifiedMatching MONDO:0956981 astrocytoma, IDH-mutant, grade 4 skos:exactMatch UMLS:C5238471 semapv:UnspecifiedMatching MONDO:0956983 pleomorphic xanthoastrocytoma BRAF mutant skos:exactMatch DOID:0080881 pleomorphic xanthoastrocytoma BRAF mutant semapv:UnspecifiedMatching MONDO:0956984 YAP1-MAMLD1 fusion-positive supratentorial ependymoma skos:exactMatch DOID:0080891 YAP1-MAMLD1 fusion-positive supratentorial ependymoma semapv:UnspecifiedMatching MONDO:0956984 YAP1-MAMLD1 fusion-positive supratentorial ependymoma skos:exactMatch MEDGEN:1810688 semapv:UnspecifiedMatching MONDO:0956984 YAP1-MAMLD1 fusion-positive supratentorial ependymoma skos:exactMatch NCIT:C186355 Supratentorial Ependymoma, YAP1-MAMLD1 Fusion-Positive semapv:UnspecifiedMatching MONDO:0956984 YAP1-MAMLD1 fusion-positive supratentorial ependymoma skos:exactMatch UMLS:C5670480 semapv:UnspecifiedMatching MONDO:0956985 lipofibromatosis-like neural tumor skos:exactMatch DOID:0080894 lipofibromatosis-like neural tumor semapv:UnspecifiedMatching MONDO:0956986 solitary fibrous tumor/hemangiopericytoma skos:exactMatch DOID:0080897 solitary fibrous tumor/hemangiopericytoma semapv:UnspecifiedMatching MONDO:0956987 EZB-MYC+ diffuse large B-cell lymphoma skos:exactMatch DOID:0081070 EZB-MYC+ diffuse large B-cell lymphoma semapv:UnspecifiedMatching MONDO:0956988 EZB-MYC- diffuse large B-cell lymphoma skos:exactMatch DOID:0081071 EZB-MYC- diffuse large B-cell lymphoma semapv:UnspecifiedMatching MONDO:0956989 CIC-rearranged sarcoma skos:exactMatch DOID:0081250 CIC-rearranged sarcoma semapv:UnspecifiedMatching MONDO:0956989 CIC-rearranged sarcoma skos:exactMatch MEDGEN:859358 semapv:UnspecifiedMatching MONDO:0956989 CIC-rearranged sarcoma skos:exactMatch NCIT:C120224 CIC-Rearranged Sarcoma semapv:UnspecifiedMatching MONDO:0956989 CIC-rearranged sarcoma skos:exactMatch UMLS:C3899764 semapv:UnspecifiedMatching MONDO:0956990 supratentorial ependymoma, ZFTA fusion–positive skos:exactMatch DOID:0081252 supratentorial ependymoma, ZFTA fusion–positive semapv:UnspecifiedMatching MONDO:0956990 supratentorial ependymoma, ZFTA fusion–positive skos:exactMatch NCIT:C186350 Supratentorial Ependymoma ZFTA Fusion-Positive semapv:UnspecifiedMatching MONDO:0956991 supratentorial ependymoma, YAP1 fusion–positive skos:exactMatch DOID:0081253 supratentorial ependymoma, YAP1 fusion–positive semapv:UnspecifiedMatching MONDO:0956991 supratentorial ependymoma, YAP1 fusion–positive skos:exactMatch NCIT:C186351 Supratentorial Ependymoma YAP1 Fusion-Positive semapv:UnspecifiedMatching MONDO:0956992 posterior fossa group A ependymoma skos:exactMatch DOID:0081254 posterior fossa group A ependymoma semapv:UnspecifiedMatching MONDO:0956992 posterior fossa group A ependymoma skos:exactMatch MEDGEN:1810123 semapv:UnspecifiedMatching MONDO:0956992 posterior fossa group A ependymoma skos:exactMatch NCIT:C186450 Posterior Fossa Ependymoma, Group A (PFA) semapv:UnspecifiedMatching MONDO:0956992 posterior fossa group A ependymoma skos:exactMatch UMLS:C5670548 semapv:UnspecifiedMatching MONDO:0956993 posterior fossa group B ependymoma skos:exactMatch DOID:0081255 posterior fossa group B ependymoma semapv:UnspecifiedMatching MONDO:0956993 posterior fossa group B ependymoma skos:exactMatch NCIT:C186451 Posterior Fossa Ependymoma, Group B (PFB) semapv:UnspecifiedMatching MONDO:0956994 astrocytoma, IDH-mutant, grade 2 skos:exactMatch DOID:0081256 astrocytoma, IDH-mutant, grade 2 semapv:UnspecifiedMatching MONDO:0956994 astrocytoma, IDH-mutant, grade 2 skos:exactMatch MEDGEN:927224 semapv:UnspecifiedMatching MONDO:0956994 astrocytoma, IDH-mutant, grade 2 skos:exactMatch NCIT:C129271 Astrocytoma, IDH-Mutant, Grade 2 semapv:UnspecifiedMatching MONDO:0956994 astrocytoma, IDH-mutant, grade 2 skos:exactMatch UMLS:C4289692 semapv:UnspecifiedMatching MONDO:0956995 astrocytoma, IDH-mutant, grade 3 skos:exactMatch DOID:0081257 astrocytoma, IDH-mutant, grade 3 semapv:UnspecifiedMatching MONDO:0956995 astrocytoma, IDH-mutant, grade 3 skos:exactMatch MEDGEN:927513 semapv:UnspecifiedMatching MONDO:0956995 astrocytoma, IDH-mutant, grade 3 skos:exactMatch NCIT:C129290 Astrocytoma, IDH-Mutant, Grade 3 semapv:UnspecifiedMatching MONDO:0956995 astrocytoma, IDH-mutant, grade 3 skos:exactMatch UMLS:C4289981 semapv:UnspecifiedMatching MONDO:0956996 oligodendroglioma, IDH-mutant and 1p/19q-codeleted grade 2 skos:exactMatch DOID:0081281 oligodendroglioma, IDH-mutant and 1p/19q-codeleted grade 2 semapv:UnspecifiedMatching MONDO:0956997 oligodendroglioma, IDH-mutant and 1p/19q-codeleted, grade 3 skos:exactMatch DOID:0081282 oligodendroglioma, IDH-mutant and 1p/19q-codeleted, grade 3 semapv:UnspecifiedMatching MONDO:0957001 obsolete hereditary mixed dermis disorder skos:exactMatch Orphanet:183481 Genetic mixed dermis disorder semapv:UnspecifiedMatching MONDO:0957003 hereditary neuro-ophthalmological disease skos:exactMatch MEDGEN:1842469 semapv:UnspecifiedMatching MONDO:0957003 hereditary neuro-ophthalmological disease skos:exactMatch Orphanet:183616 Genetic neuro-ophthalmological disease semapv:UnspecifiedMatching MONDO:0957003 hereditary neuro-ophthalmological disease skos:exactMatch UMLS:C5680540 semapv:UnspecifiedMatching MONDO:0957008 hereditary cerebral malformation skos:exactMatch MEDGEN:1842500 semapv:UnspecifiedMatching MONDO:0957008 hereditary cerebral malformation skos:exactMatch Orphanet:269553 Genetic cerebral malformation semapv:UnspecifiedMatching MONDO:0957008 hereditary cerebral malformation skos:exactMatch UMLS:C5679762 semapv:UnspecifiedMatching MONDO:0957009 obsolete hereditary posterior fossa malformation skos:exactMatch Orphanet:269557 Genetic posterior fossa malformation semapv:UnspecifiedMatching MONDO:0957018 autoinflammatory syndrome of childhood skos:exactMatch MEDGEN:1842803 semapv:UnspecifiedMatching MONDO:0957018 autoinflammatory syndrome of childhood skos:exactMatch Orphanet:319719 Autoinflammatory syndrome of childhood semapv:UnspecifiedMatching MONDO:0957018 autoinflammatory syndrome of childhood skos:exactMatch UMLS:C5680962 semapv:UnspecifiedMatching MONDO:0957024 obsolete hereditary 46,XX disorder of sex development skos:exactMatch Orphanet:325697 Genetic 46,XX difference of sex development semapv:UnspecifiedMatching MONDO:0957025 obsolete hereditary 46,XY disorder of sex development skos:exactMatch Orphanet:325706 Genetic 46,XY difference of sex development semapv:UnspecifiedMatching MONDO:0957048 isolated macular dystrophy skos:exactMatch MEDGEN:1842262 semapv:UnspecifiedMatching MONDO:0957048 isolated macular dystrophy skos:exactMatch Orphanet:519302 Isolated macular dystrophy semapv:UnspecifiedMatching MONDO:0957048 isolated macular dystrophy skos:exactMatch UMLS:C5681367 semapv:UnspecifiedMatching MONDO:0957097 hereditary hemolytic uremic syndrome skos:exactMatch MEDGEN:1825935 semapv:UnspecifiedMatching MONDO:0957097 hereditary hemolytic uremic syndrome skos:exactMatch OMIMPS:235400 Hemolytic uremic syndrome semapv:UnspecifiedMatching MONDO:0957097 hereditary hemolytic uremic syndrome skos:exactMatch Orphanet:576742 Genetic hemolytic uremic syndrome semapv:UnspecifiedMatching MONDO:0957097 hereditary hemolytic uremic syndrome skos:exactMatch UMLS:C5680355 semapv:UnspecifiedMatching MONDO:0957111 neurological muscular channelopathy due to a genetic sodium channel defect skos:exactMatch MEDGEN:1842444 semapv:UnspecifiedMatching MONDO:0957111 neurological muscular channelopathy due to a genetic sodium channel defect skos:exactMatch Orphanet:98738 Neurological muscular channelopathy due to a genetic sodium channel defect semapv:UnspecifiedMatching MONDO:0957111 neurological muscular channelopathy due to a genetic sodium channel defect skos:exactMatch UMLS:C5681681 semapv:UnspecifiedMatching MONDO:0957112 neurological muscular channelopathy due to a genetic chloride channel defect skos:exactMatch MEDGEN:1843259 semapv:UnspecifiedMatching MONDO:0957112 neurological muscular channelopathy due to a genetic chloride channel defect skos:exactMatch Orphanet:98739 Neurological muscular channelopathy due to a genetic chloride channel defect semapv:UnspecifiedMatching MONDO:0957112 neurological muscular channelopathy due to a genetic chloride channel defect skos:exactMatch UMLS:C5681687 semapv:UnspecifiedMatching MONDO:0957113 neurological muscular channelopathy due to a genetic calcium channel defect skos:exactMatch MEDGEN:1842522 semapv:UnspecifiedMatching MONDO:0957113 neurological muscular channelopathy due to a genetic calcium channel defect skos:exactMatch Orphanet:98740 Neurological muscular channelopathy due to a genetic calcium channel defect semapv:UnspecifiedMatching MONDO:0957113 neurological muscular channelopathy due to a genetic calcium channel defect skos:exactMatch UMLS:C5681686 semapv:UnspecifiedMatching MONDO:0957114 neurological muscular channelopathy due to a genetic potassium channel defect skos:exactMatch MEDGEN:1842582 semapv:UnspecifiedMatching MONDO:0957114 neurological muscular channelopathy due to a genetic potassium channel defect skos:exactMatch Orphanet:98741 Neurological muscular channelopathy due to a genetic potassium channel defect semapv:UnspecifiedMatching MONDO:0957114 neurological muscular channelopathy due to a genetic potassium channel defect skos:exactMatch UMLS:C5681685 semapv:UnspecifiedMatching MONDO:0957196 diffuse midline glioma, H3 K27M-mutant skos:exactMatch DOID:0080684 diffuse midline glioma, H3 K27M-mutant semapv:UnspecifiedMatching MONDO:0957196 diffuse midline glioma, H3 K27M-mutant skos:exactMatch MEDGEN:927220 semapv:UnspecifiedMatching MONDO:0957196 diffuse midline glioma, H3 K27M-mutant skos:exactMatch NCIT:C129309 Diffuse Midline Glioma, H3 K27M-Mutant semapv:UnspecifiedMatching MONDO:0957196 diffuse midline glioma, H3 K27M-mutant skos:exactMatch UMLS:C4289688 semapv:UnspecifiedMatching MONDO:0957197 diffuse glioma, H3 G34 mutant skos:exactMatch DOID:0080880 diffuse glioma, H3 G34 mutant semapv:UnspecifiedMatching MONDO:0957202 spermatogenic failure, X-linked, 7 skos:exactMatch DOID:0070598 X-linked spermatogenic failure 7 semapv:UnspecifiedMatching MONDO:0957202 spermatogenic failure, X-linked, 7 skos:exactMatch MEDGEN:1840203 semapv:UnspecifiedMatching MONDO:0957202 spermatogenic failure, X-linked, 7 skos:exactMatch OMIM:301106 spermatogenic failure, x-linked, 7 semapv:UnspecifiedMatching MONDO:0957202 spermatogenic failure, X-linked, 7 skos:exactMatch UMLS:C5829567 semapv:UnspecifiedMatching MONDO:0957203 intellectual developmental disorder, X-linked 111 skos:exactMatch DOID:0060929 non-syndromic X-linked intellectual developmental disorder 111 semapv:UnspecifiedMatching MONDO:0957203 intellectual developmental disorder, X-linked 111 skos:exactMatch MEDGEN:1840204 semapv:UnspecifiedMatching MONDO:0957203 intellectual developmental disorder, X-linked 111 skos:exactMatch OMIM:301107 intellectual developmental disorder, X-linked 111 semapv:UnspecifiedMatching MONDO:0957203 intellectual developmental disorder, X-linked 111 skos:exactMatch UMLS:C5829568 semapv:UnspecifiedMatching MONDO:0957204 autoinflammation with pulmonary and cutaneous vasculitis skos:exactMatch MEDGEN:1841007 semapv:UnspecifiedMatching MONDO:0957204 autoinflammation with pulmonary and cutaneous vasculitis skos:exactMatch OMIM:620296 autoinflammation with pulmonary and cutaneous vasculitis semapv:UnspecifiedMatching MONDO:0957204 autoinflammation with pulmonary and cutaneous vasculitis skos:exactMatch UMLS:C5830371 semapv:UnspecifiedMatching MONDO:0957208 pituitary hormone deficiency, combined or isolated, 8 skos:exactMatch DOID:0061018 combined or isolated pituitary hormone deficiency 8 semapv:UnspecifiedMatching MONDO:0957208 pituitary hormone deficiency, combined or isolated, 8 skos:exactMatch MEDGEN:1841011 semapv:UnspecifiedMatching MONDO:0957208 pituitary hormone deficiency, combined or isolated, 8 skos:exactMatch OMIM:620303 pituitary hormone deficiency, combined or isolated, 8 semapv:UnspecifiedMatching MONDO:0957208 pituitary hormone deficiency, combined or isolated, 8 skos:exactMatch UMLS:C5830375 semapv:UnspecifiedMatching MONDO:0957210 neurooculorenal syndrome skos:exactMatch MEDGEN:1841013 semapv:UnspecifiedMatching MONDO:0957210 neurooculorenal syndrome skos:exactMatch OMIM:620305 neurooculorenal syndrome semapv:UnspecifiedMatching MONDO:0957210 neurooculorenal syndrome skos:exactMatch UMLS:C5830377 semapv:UnspecifiedMatching MONDO:0957211 neurodegeneration and seizures due to copper transport defect skos:exactMatch MEDGEN:1841021 semapv:UnspecifiedMatching MONDO:0957211 neurodegeneration and seizures due to copper transport defect skos:exactMatch OMIM:620306 neurodegeneration and seizures due to copper transport defect semapv:UnspecifiedMatching MONDO:0957211 neurodegeneration and seizures due to copper transport defect skos:exactMatch UMLS:C5830385 semapv:UnspecifiedMatching MONDO:0957215 congenital myopathy 20 skos:exactMatch DOID:0081352 congenital myopathy 20 semapv:UnspecifiedMatching MONDO:0957215 congenital myopathy 20 skos:exactMatch MEDGEN:1841029 semapv:UnspecifiedMatching MONDO:0957215 congenital myopathy 20 skos:exactMatch OMIM:620310 congenital myopathy 20 semapv:UnspecifiedMatching MONDO:0957215 congenital myopathy 20 skos:exactMatch UMLS:C5830393 semapv:UnspecifiedMatching MONDO:0957216 premature ovarian failure 21 skos:exactMatch MEDGEN:1841035 semapv:UnspecifiedMatching MONDO:0957216 premature ovarian failure 21 skos:exactMatch OMIM:620311 premature ovarian failure 21 semapv:UnspecifiedMatching MONDO:0957216 premature ovarian failure 21 skos:exactMatch UMLS:C5830399 semapv:UnspecifiedMatching MONDO:0957217 cortical dysplasia, complex, with other brain malformations 12 skos:exactMatch DOID:0061141 complex cortical dysplasia with other brain malformations 12 semapv:UnspecifiedMatching MONDO:0957217 cortical dysplasia, complex, with other brain malformations 12 skos:exactMatch MEDGEN:1841043 semapv:UnspecifiedMatching MONDO:0957217 cortical dysplasia, complex, with other brain malformations 12 skos:exactMatch OMIM:620316 cortical dysplasia, complex, with other brain malformations 12 semapv:UnspecifiedMatching MONDO:0957217 cortical dysplasia, complex, with other brain malformations 12 skos:exactMatch UMLS:C5830407 semapv:UnspecifiedMatching MONDO:0957218 neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities skos:exactMatch MEDGEN:1841049 semapv:UnspecifiedMatching MONDO:0957218 neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities skos:exactMatch OMIM:620317 neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities semapv:UnspecifiedMatching MONDO:0957218 neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities skos:exactMatch UMLS:C5830413 semapv:UnspecifiedMatching MONDO:0957220 oocyte/zygote/embryo maturation arrest 17 skos:exactMatch MEDGEN:1841054 semapv:UnspecifiedMatching MONDO:0957220 oocyte/zygote/embryo maturation arrest 17 skos:exactMatch OMIM:620319 oocyte/zygote/embryo maturation arrest 17 semapv:UnspecifiedMatching MONDO:0957220 oocyte/zygote/embryo maturation arrest 17 skos:exactMatch UMLS:C5830418 semapv:UnspecifiedMatching MONDO:0957224 congenital myopathy 21 with early respiratory failure skos:exactMatch DOID:0081353 congenital myopathy 21 semapv:UnspecifiedMatching MONDO:0957224 congenital myopathy 21 with early respiratory failure skos:exactMatch MEDGEN:1841060 semapv:UnspecifiedMatching MONDO:0957224 congenital myopathy 21 with early respiratory failure skos:exactMatch OMIM:620326 congenital myopathy 21 with early respiratory failure semapv:UnspecifiedMatching MONDO:0957224 congenital myopathy 21 with early respiratory failure skos:exactMatch UMLS:C5830424 semapv:UnspecifiedMatching MONDO:0957225 neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities skos:exactMatch MEDGEN:1841069 semapv:UnspecifiedMatching MONDO:0957225 neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities skos:exactMatch OMIM:620327 neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities semapv:UnspecifiedMatching MONDO:0957225 neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities skos:exactMatch UMLS:C5830433 semapv:UnspecifiedMatching MONDO:0957228 intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities skos:exactMatch DOID:0061044 autosomal dominant intellectual developmental disorder 71 with behavioral abnormalities semapv:UnspecifiedMatching MONDO:0957228 intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities skos:exactMatch MEDGEN:1841073 semapv:UnspecifiedMatching MONDO:0957228 intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities skos:exactMatch OMIM:620330 intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities semapv:UnspecifiedMatching MONDO:0957228 intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities skos:exactMatch UMLS:C5830437 semapv:UnspecifiedMatching MONDO:0957229 hatipoglu immunodeficiency syndrome skos:exactMatch MEDGEN:1841075 semapv:UnspecifiedMatching MONDO:0957229 hatipoglu immunodeficiency syndrome skos:exactMatch OMIM:620331 hatipoglu immunodeficiency syndrome semapv:UnspecifiedMatching MONDO:0957229 hatipoglu immunodeficiency syndrome skos:exactMatch UMLS:C5830439 semapv:UnspecifiedMatching MONDO:0957230 oocyte/zygote/embryo maturation arrest 18 skos:exactMatch MEDGEN:1841077 semapv:UnspecifiedMatching MONDO:0957230 oocyte/zygote/embryo maturation arrest 18 skos:exactMatch OMIM:620332 oocyte/zygote/embryo maturation arrest 18 semapv:UnspecifiedMatching MONDO:0957230 oocyte/zygote/embryo maturation arrest 18 skos:exactMatch UMLS:C5830441 semapv:UnspecifiedMatching MONDO:0957231 oocyte/zygote/embryo maturation arrest 19 skos:exactMatch MEDGEN:1841078 semapv:UnspecifiedMatching MONDO:0957231 oocyte/zygote/embryo maturation arrest 19 skos:exactMatch OMIM:620333 oocyte/zygote/embryo maturation arrest 19 semapv:UnspecifiedMatching MONDO:0957231 oocyte/zygote/embryo maturation arrest 19 skos:exactMatch UMLS:C5830442 semapv:UnspecifiedMatching MONDO:0957240 cone-rod dystrophy 24 skos:exactMatch DOID:0081449 cone-rod dystrophy 24 semapv:UnspecifiedMatching MONDO:0957240 cone-rod dystrophy 24 skos:exactMatch MEDGEN:1841082 semapv:UnspecifiedMatching MONDO:0957240 cone-rod dystrophy 24 skos:exactMatch OMIM:620342 cone-rod dystrophy 24 semapv:UnspecifiedMatching MONDO:0957240 cone-rod dystrophy 24 skos:exactMatch UMLS:C5830446 semapv:UnspecifiedMatching MONDO:0957247 congenital myopathy 22A, classic skos:exactMatch DOID:0081354 congenital myopathy 22A semapv:UnspecifiedMatching MONDO:0957247 congenital myopathy 22A, classic skos:exactMatch MEDGEN:1841089 semapv:UnspecifiedMatching MONDO:0957247 congenital myopathy 22A, classic skos:exactMatch OMIM:620351 congenital myopathy 22a, classic semapv:UnspecifiedMatching MONDO:0957247 congenital myopathy 22A, classic skos:exactMatch UMLS:C5830453 semapv:UnspecifiedMatching MONDO:0957248 developmental and epileptic encephalopathy, 31B skos:exactMatch DOID:0070376 developmental and epileptic encephalopathy 31B semapv:UnspecifiedMatching MONDO:0957248 developmental and epileptic encephalopathy, 31B skos:exactMatch MEDGEN:1841095 semapv:UnspecifiedMatching MONDO:0957248 developmental and epileptic encephalopathy, 31B skos:exactMatch OMIM:620352 developmental and epileptic encephalopathy 31b semapv:UnspecifiedMatching MONDO:0957248 developmental and epileptic encephalopathy, 31B skos:exactMatch UMLS:C5830459 semapv:UnspecifiedMatching MONDO:0957249 spermatogenic failure 82 skos:exactMatch DOID:0070581 spermatogenic failure 82 semapv:UnspecifiedMatching MONDO:0957249 spermatogenic failure 82 skos:exactMatch MEDGEN:1841104 semapv:UnspecifiedMatching MONDO:0957249 spermatogenic failure 82 skos:exactMatch OMIM:620353 spermatogenic failure 82 semapv:UnspecifiedMatching MONDO:0957249 spermatogenic failure 82 skos:exactMatch UMLS:C5830468 semapv:UnspecifiedMatching MONDO:0957250 spermatogenic failure 83 skos:exactMatch DOID:0070582 spermatogenic failure 83 semapv:UnspecifiedMatching MONDO:0957250 spermatogenic failure 83 skos:exactMatch MEDGEN:1841106 semapv:UnspecifiedMatching MONDO:0957250 spermatogenic failure 83 skos:exactMatch OMIM:620354 spermatogenic failure 83 semapv:UnspecifiedMatching MONDO:0957250 spermatogenic failure 83 skos:exactMatch UMLS:C5830470 semapv:UnspecifiedMatching MONDO:0957252 ciliary dyskinesia, primary, 50 skos:exactMatch MEDGEN:1841109 semapv:UnspecifiedMatching MONDO:0957252 ciliary dyskinesia, primary, 50 skos:exactMatch OMIM:620356 ciliary dyskinesia, primary, 50 semapv:UnspecifiedMatching MONDO:0957252 ciliary dyskinesia, primary, 50 skos:exactMatch UMLS:C5830473 semapv:UnspecifiedMatching MONDO:0957253 diarrhea 13 skos:exactMatch MEDGEN:1841113 semapv:UnspecifiedMatching MONDO:0957253 diarrhea 13 skos:exactMatch OMIM:620357 diarrhea 13 semapv:UnspecifiedMatching MONDO:0957253 diarrhea 13 skos:exactMatch UMLS:C5830477 semapv:UnspecifiedMatching MONDO:0957254 mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A skos:exactMatch DOID:0070461 mitochondrial complex V (ATP synthase) deficiency nuclear type 4A semapv:UnspecifiedMatching MONDO:0957254 mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A skos:exactMatch MEDGEN:1841116 semapv:UnspecifiedMatching MONDO:0957254 mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A skos:exactMatch OMIM:620358 mitochondrial complex 5 (atp synthase) deficiency, nuclear type 4a semapv:UnspecifiedMatching MONDO:0957254 mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A skos:exactMatch UMLS:C5830480 semapv:UnspecifiedMatching MONDO:0957255 mitochondrial complex V (ATP synthase) deficiency, nuclear type 7 skos:exactMatch DOID:0070464 mitochondrial complex V (ATP synthase) deficiency nuclear type 7 semapv:UnspecifiedMatching MONDO:0957255 mitochondrial complex V (ATP synthase) deficiency, nuclear type 7 skos:exactMatch MEDGEN:1841118 semapv:UnspecifiedMatching MONDO:0957255 mitochondrial complex V (ATP synthase) deficiency, nuclear type 7 skos:exactMatch OMIM:620359 mitochondrial complex 5 (atp synthase) deficiency, nuclear type 7 semapv:UnspecifiedMatching MONDO:0957255 mitochondrial complex V (ATP synthase) deficiency, nuclear type 7 skos:exactMatch UMLS:C5830482 semapv:UnspecifiedMatching MONDO:0957260 combined low LDL and fibrinogen skos:exactMatch MEDGEN:1841120 semapv:UnspecifiedMatching MONDO:0957260 combined low LDL and fibrinogen skos:exactMatch OMIM:620364 combined low ldl and fibrinogen semapv:UnspecifiedMatching MONDO:0957260 combined low LDL and fibrinogen skos:exactMatch UMLS:C5830484 semapv:UnspecifiedMatching MONDO:0957261 pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7 skos:exactMatch MEDGEN:1841121 semapv:UnspecifiedMatching MONDO:0957261 pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7 skos:exactMatch OMIM:620365 pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7 semapv:UnspecifiedMatching MONDO:0957261 pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7 skos:exactMatch UMLS:C5830485 semapv:UnspecifiedMatching MONDO:0957262 osteopetrosis, autosomal recessive 9 skos:exactMatch MEDGEN:1841123 semapv:UnspecifiedMatching MONDO:0957262 osteopetrosis, autosomal recessive 9 skos:exactMatch OMIM:620366 osteopetrosis, autosomal recessive 9 semapv:UnspecifiedMatching MONDO:0957262 osteopetrosis, autosomal recessive 9 skos:exactMatch UMLS:C5830487 semapv:UnspecifiedMatching MONDO:0957263 pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8 skos:exactMatch MEDGEN:1841132 semapv:UnspecifiedMatching MONDO:0957263 pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8 skos:exactMatch OMIM:620367 pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8 semapv:UnspecifiedMatching MONDO:0957263 pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8 skos:exactMatch UMLS:C5830496 semapv:UnspecifiedMatching MONDO:0957264 cerebroretinal microangiopathy with calcifications and cysts 3 skos:exactMatch MEDGEN:1841133 semapv:UnspecifiedMatching MONDO:0957264 cerebroretinal microangiopathy with calcifications and cysts 3 skos:exactMatch OMIM:620368 cerebroretinal microangiopathy with calcifications and cysts 3 semapv:UnspecifiedMatching MONDO:0957264 cerebroretinal microangiopathy with calcifications and cysts 3 skos:exactMatch UMLS:C5830497 semapv:UnspecifiedMatching MONDO:0957265 congenital myopathy 22B, severe fetal skos:exactMatch DOID:0081355 congenital myopathy 22B semapv:UnspecifiedMatching MONDO:0957265 congenital myopathy 22B, severe fetal skos:exactMatch MEDGEN:1841137 semapv:UnspecifiedMatching MONDO:0957265 congenital myopathy 22B, severe fetal skos:exactMatch OMIM:620369 congenital myopathy 22b, severe fetal semapv:UnspecifiedMatching MONDO:0957265 congenital myopathy 22B, severe fetal skos:exactMatch UMLS:C5830501 semapv:UnspecifiedMatching MONDO:0957266 RECON progeroid syndrome skos:exactMatch MEDGEN:1841140 semapv:UnspecifiedMatching MONDO:0957266 RECON progeroid syndrome skos:exactMatch OMIM:620370 RECON progeroid syndrome semapv:UnspecifiedMatching MONDO:0957266 RECON progeroid syndrome skos:exactMatch UMLS:C5830504 semapv:UnspecifiedMatching MONDO:0957267 neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity skos:exactMatch MEDGEN:1841145 semapv:UnspecifiedMatching MONDO:0957267 neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity skos:exactMatch OMIM:620371 neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity semapv:UnspecifiedMatching MONDO:0957267 neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity skos:exactMatch UMLS:C5830509 semapv:UnspecifiedMatching MONDO:0957268 hypersulfaturia skos:exactMatch MEDGEN:1841147 semapv:UnspecifiedMatching MONDO:0957268 hypersulfaturia skos:exactMatch OMIM:620372 hypersulfaturia semapv:UnspecifiedMatching MONDO:0957268 hypersulfaturia skos:exactMatch UMLS:C5830511 semapv:UnspecifiedMatching MONDO:0957270 muscular dystrophy, limb-girdle, autosomal recessive 28 skos:exactMatch DOID:0061130 autosomal recessive limb-girdle muscular dystrophy type 28 semapv:UnspecifiedMatching MONDO:0957270 muscular dystrophy, limb-girdle, autosomal recessive 28 skos:exactMatch MEDGEN:1841154 semapv:UnspecifiedMatching MONDO:0957270 muscular dystrophy, limb-girdle, autosomal recessive 28 skos:exactMatch OMIM:620375 muscular dystrophy, limb-girdle, autosomal recessive 28 semapv:UnspecifiedMatching MONDO:0957270 muscular dystrophy, limb-girdle, autosomal recessive 28 skos:exactMatch Orphanet:653725 Autosomal recessive limb-girdle muscular dystrophy, type 28 semapv:UnspecifiedMatching MONDO:0957270 muscular dystrophy, limb-girdle, autosomal recessive 28 skos:exactMatch UMLS:C5830518 semapv:UnspecifiedMatching MONDO:0957271 autoinflammatory disease, systemic, with vasculitis skos:exactMatch MEDGEN:1841161 semapv:UnspecifiedMatching MONDO:0957271 autoinflammatory disease, systemic, with vasculitis skos:exactMatch OMIM:620376 autoinflammatory disease, systemic, with vasculitis semapv:UnspecifiedMatching MONDO:0957271 autoinflammatory disease, systemic, with vasculitis skos:exactMatch UMLS:C5830525 semapv:UnspecifiedMatching MONDO:0957273 Charcot-Marie-Tooth disease, dominant intermediate A skos:exactMatch MEDGEN:376235 semapv:UnspecifiedMatching MONDO:0957273 Charcot-Marie-Tooth disease, dominant intermediate A skos:exactMatch OMIM:620378 charcot-marie-tooth disease, dominant intermediate a semapv:UnspecifiedMatching MONDO:0957273 Charcot-Marie-Tooth disease, dominant intermediate A skos:exactMatch UMLS:C1847896 semapv:UnspecifiedMatching MONDO:0957274 spastic paraplegia 89, autosomal recessive skos:exactMatch DOID:0070458 hereditary spastic paraplegia 89 semapv:UnspecifiedMatching MONDO:0957274 spastic paraplegia 89, autosomal recessive skos:exactMatch MEDGEN:1841167 semapv:UnspecifiedMatching MONDO:0957274 spastic paraplegia 89, autosomal recessive skos:exactMatch OMIM:620379 spastic paraplegia 89, autosomal recessive semapv:UnspecifiedMatching MONDO:0957274 spastic paraplegia 89, autosomal recessive skos:exactMatch UMLS:C5830531 semapv:UnspecifiedMatching MONDO:0957278 oocyte/zygote/embryo maturation arrest 20 skos:exactMatch MEDGEN:1841175 semapv:UnspecifiedMatching MONDO:0957278 oocyte/zygote/embryo maturation arrest 20 skos:exactMatch OMIM:620383 oocyte/zygote/embryo maturation arrest 20 semapv:UnspecifiedMatching MONDO:0957278 oocyte/zygote/embryo maturation arrest 20 skos:exactMatch UMLS:C5830539 semapv:UnspecifiedMatching MONDO:0957279 auditory neuropathy, autosomal dominant 2 skos:exactMatch MEDGEN:1841178 semapv:UnspecifiedMatching MONDO:0957279 auditory neuropathy, autosomal dominant 2 skos:exactMatch OMIM:620384 auditory neuropathy, autosomal dominant 2 semapv:UnspecifiedMatching MONDO:0957279 auditory neuropathy, autosomal dominant 2 skos:exactMatch UMLS:C5830542 semapv:UnspecifiedMatching MONDO:0957281 nemaline myopathy 5B, autosomal recessive, childhood-onset skos:exactMatch DOID:0081374 nemaline myopathy 5B semapv:UnspecifiedMatching MONDO:0957281 nemaline myopathy 5B, autosomal recessive, childhood-onset skos:exactMatch MEDGEN:1841181 semapv:UnspecifiedMatching MONDO:0957281 nemaline myopathy 5B, autosomal recessive, childhood-onset skos:exactMatch OMIM:620386 nemaline myopathy 5b, autosomal recessive, childhood-onset semapv:UnspecifiedMatching MONDO:0957281 nemaline myopathy 5B, autosomal recessive, childhood-onset skos:exactMatch UMLS:C5830545 semapv:UnspecifiedMatching MONDO:0957284 nemaline myopathy 5C, autosomal dominant skos:exactMatch DOID:0081375 nemaline myopathy 5C semapv:UnspecifiedMatching MONDO:0957284 nemaline myopathy 5C, autosomal dominant skos:exactMatch MEDGEN:1841185 semapv:UnspecifiedMatching MONDO:0957284 nemaline myopathy 5C, autosomal dominant skos:exactMatch OMIM:620389 nemaline myopathy 5c, autosomal dominant semapv:UnspecifiedMatching MONDO:0957284 nemaline myopathy 5C, autosomal dominant skos:exactMatch UMLS:C5830549 semapv:UnspecifiedMatching MONDO:0957288 intellectual developmental disorder, autosomal recessive 79 skos:exactMatch MEDGEN:1841189 semapv:UnspecifiedMatching MONDO:0957288 intellectual developmental disorder, autosomal recessive 79 skos:exactMatch OMIM:620393 intellectual developmental disorder, autosomal recessive 79 semapv:UnspecifiedMatching MONDO:0957288 intellectual developmental disorder, autosomal recessive 79 skos:exactMatch UMLS:C5830553 semapv:UnspecifiedMatching MONDO:0957294 pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9 skos:exactMatch MEDGEN:1841196 semapv:UnspecifiedMatching MONDO:0957294 pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9 skos:exactMatch OMIM:620400 pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9 semapv:UnspecifiedMatching MONDO:0957294 pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9 skos:exactMatch UMLS:C5830560 semapv:UnspecifiedMatching MONDO:0957301 spermatogenic failure 84 skos:exactMatch DOID:0070583 spermatogenic failure 84 semapv:UnspecifiedMatching MONDO:0957301 spermatogenic failure 84 skos:exactMatch MEDGEN:1841198 semapv:UnspecifiedMatching MONDO:0957301 spermatogenic failure 84 skos:exactMatch OMIM:620409 spermatogenic failure 84 semapv:UnspecifiedMatching MONDO:0957301 spermatogenic failure 84 skos:exactMatch UMLS:C5830562 semapv:UnspecifiedMatching MONDO:0957303 palmoplantar keratoderma, epidermolytic, 2 skos:exactMatch DOID:0070551 epidermolytic palmoplantar keratoderma 2 semapv:UnspecifiedMatching MONDO:0957303 palmoplantar keratoderma, epidermolytic, 2 skos:exactMatch MEDGEN:445412 semapv:UnspecifiedMatching MONDO:0957303 palmoplantar keratoderma, epidermolytic, 2 skos:exactMatch OMIM:620411 palmoplantar keratoderma, epidermolytic, 2 semapv:UnspecifiedMatching MONDO:0957303 palmoplantar keratoderma, epidermolytic, 2 skos:exactMatch UMLS:C2936837 semapv:UnspecifiedMatching MONDO:0957307 woolly hair-skin fragility syndrome skos:exactMatch MEDGEN:375148 semapv:UnspecifiedMatching MONDO:0957307 woolly hair-skin fragility syndrome skos:exactMatch OMIM:620415 woolly hair-skin fragility syndrome semapv:UnspecifiedMatching MONDO:0957307 woolly hair-skin fragility syndrome skos:exactMatch UMLS:C1843292 semapv:UnspecifiedMatching MONDO:0957308 spastic paraplegia 90A, autosomal dominant skos:exactMatch DOID:0070459 hereditary spastic paraplegia 90A semapv:UnspecifiedMatching MONDO:0957308 spastic paraplegia 90A, autosomal dominant skos:exactMatch MEDGEN:1841210 semapv:UnspecifiedMatching MONDO:0957308 spastic paraplegia 90A, autosomal dominant skos:exactMatch OMIM:620416 spastic paraplegia 90a, autosomal dominant semapv:UnspecifiedMatching MONDO:0957308 spastic paraplegia 90A, autosomal dominant skos:exactMatch UMLS:C5830574 semapv:UnspecifiedMatching MONDO:0957309 spastic paraplegia 90B, autosomal recessive skos:exactMatch DOID:0070460 hereditary spastic paraplegia 90B semapv:UnspecifiedMatching MONDO:0957309 spastic paraplegia 90B, autosomal recessive skos:exactMatch MEDGEN:1841214 semapv:UnspecifiedMatching MONDO:0957309 spastic paraplegia 90B, autosomal recessive skos:exactMatch OMIM:620417 spastic paraplegia 90b, autosomal recessive semapv:UnspecifiedMatching MONDO:0957309 spastic paraplegia 90B, autosomal recessive skos:exactMatch UMLS:C5830578 semapv:UnspecifiedMatching MONDO:0957314 retinitis pigmentosa 97 skos:exactMatch DOID:0061110 retinitis pigmentosa 97 semapv:UnspecifiedMatching MONDO:0957314 retinitis pigmentosa 97 skos:exactMatch MEDGEN:1841215 semapv:UnspecifiedMatching MONDO:0957314 retinitis pigmentosa 97 skos:exactMatch OMIM:620422 retinitis pigmentosa 97 semapv:UnspecifiedMatching MONDO:0957314 retinitis pigmentosa 97 skos:exactMatch UMLS:C5830579 semapv:UnspecifiedMatching MONDO:0957317 hematuria, benign familial skos:exactMatch DOID:0111365 benign familial hematuria semapv:UnspecifiedMatching MONDO:0957317 hematuria, benign familial skos:exactMatch MEDGEN:66039 semapv:UnspecifiedMatching MONDO:0957317 hematuria, benign familial skos:exactMatch OMIMPS:141200 Hematuria, benign familial semapv:UnspecifiedMatching MONDO:0957317 hematuria, benign familial skos:exactMatch UMLS:C0241908 semapv:UnspecifiedMatching MONDO:0957317 hematuria, benign familial skos:exactMatch mesh:C562476 semapv:UnspecifiedMatching MONDO:0957318 nephrolithiasis, calcium oxalate skos:exactMatch MEDGEN:318935 semapv:UnspecifiedMatching MONDO:0957318 nephrolithiasis, calcium oxalate skos:exactMatch OMIMPS:167030 Nephrolithiasis, calcium oxalate semapv:UnspecifiedMatching MONDO:0957318 nephrolithiasis, calcium oxalate skos:exactMatch UMLS:C1833683 semapv:UnspecifiedMatching MONDO:0957337 isolated chorioretinal dystrophy skos:exactMatch MEDGEN:1842795 semapv:UnspecifiedMatching MONDO:0957337 isolated chorioretinal dystrophy skos:exactMatch Orphanet:519300 Isolated chorioretinal dystrophy semapv:UnspecifiedMatching MONDO:0957337 isolated chorioretinal dystrophy skos:exactMatch UMLS:C5681368 semapv:UnspecifiedMatching MONDO:0957341 secondary early-onset glaucoma skos:exactMatch MEDGEN:1843268 semapv:UnspecifiedMatching MONDO:0957341 secondary early-onset glaucoma skos:exactMatch Orphanet:519331 Secondary early-onset glaucoma semapv:UnspecifiedMatching MONDO:0957341 secondary early-onset glaucoma skos:exactMatch UMLS:C5681353 semapv:UnspecifiedMatching MONDO:0957382 multiple mitochondrial dysfunctions syndrome 7 skos:exactMatch MEDGEN:1841222 semapv:UnspecifiedMatching MONDO:0957382 multiple mitochondrial dysfunctions syndrome 7 skos:exactMatch OMIM:620423 multiple mitochondrial dysfunctions syndrome 7 semapv:UnspecifiedMatching MONDO:0957382 multiple mitochondrial dysfunctions syndrome 7 skos:exactMatch UMLS:C5830586 semapv:UnspecifiedMatching MONDO:0957385 dystonia 37, early-onset, with striatal lesions skos:exactMatch DOID:0060956 dystonia 37, early-onset with striatal lesions semapv:UnspecifiedMatching MONDO:0957385 dystonia 37, early-onset, with striatal lesions skos:exactMatch MEDGEN:1841228 semapv:UnspecifiedMatching MONDO:0957385 dystonia 37, early-onset, with striatal lesions skos:exactMatch OMIM:620427 dystonia 37, early-onset, with striatal lesions semapv:UnspecifiedMatching MONDO:0957385 dystonia 37, early-onset, with striatal lesions skos:exactMatch UMLS:C5830592 semapv:UnspecifiedMatching MONDO:0957386 neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities skos:exactMatch DOID:0081387 neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities semapv:UnspecifiedMatching MONDO:0957386 neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities skos:exactMatch MEDGEN:1841232 semapv:UnspecifiedMatching MONDO:0957386 neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities skos:exactMatch OMIM:620428 neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities semapv:UnspecifiedMatching MONDO:0957386 neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities skos:exactMatch UMLS:C5830596 semapv:UnspecifiedMatching MONDO:0957388 autoimmune disease, multisystem, infantile-onset, 3 skos:exactMatch DOID:0061162 infantile onset multisystem autoimmune disease 3 semapv:UnspecifiedMatching MONDO:0957388 autoimmune disease, multisystem, infantile-onset, 3 skos:exactMatch MEDGEN:1841236 semapv:UnspecifiedMatching MONDO:0957388 autoimmune disease, multisystem, infantile-onset, 3 skos:exactMatch OMIM:620430 autoimmune disease, multisystem, infantile-onset, 3 semapv:UnspecifiedMatching MONDO:0957388 autoimmune disease, multisystem, infantile-onset, 3 skos:exactMatch UMLS:C5830600 semapv:UnspecifiedMatching MONDO:0957396 ciliary dyskinesia, primary, 51 skos:exactMatch MEDGEN:1841244 semapv:UnspecifiedMatching MONDO:0957396 ciliary dyskinesia, primary, 51 skos:exactMatch OMIM:620438 ciliary dyskinesia, primary, 51 semapv:UnspecifiedMatching MONDO:0957396 ciliary dyskinesia, primary, 51 skos:exactMatch UMLS:C5830608 semapv:UnspecifiedMatching MONDO:0957397 intellectual developmental disorder, autosomal dominant 72 skos:exactMatch DOID:0061045 autosomal dominant intellectual developmental disorder 72 semapv:UnspecifiedMatching MONDO:0957397 intellectual developmental disorder, autosomal dominant 72 skos:exactMatch MEDGEN:1841248 semapv:UnspecifiedMatching MONDO:0957397 intellectual developmental disorder, autosomal dominant 72 skos:exactMatch OMIM:620439 intellectual developmental disorder, autosomal dominant 72 semapv:UnspecifiedMatching MONDO:0957397 intellectual developmental disorder, autosomal dominant 72 skos:exactMatch Orphanet:652487 Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome semapv:UnspecifiedMatching MONDO:0957397 intellectual developmental disorder, autosomal dominant 72 skos:exactMatch UMLS:C5830612 semapv:UnspecifiedMatching MONDO:0957400 cataracts, hearing impairment, nephrotic syndrome, and enterocolitis skos:exactMatch OMIMPS:301108 Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1 semapv:UnspecifiedMatching MONDO:0957403 periodic fever syndrome of childhood skos:exactMatch MEDGEN:1842772 semapv:UnspecifiedMatching MONDO:0957403 periodic fever syndrome of childhood skos:exactMatch Orphanet:324939 Periodic fever syndrome of childhood semapv:UnspecifiedMatching MONDO:0957403 periodic fever syndrome of childhood skos:exactMatch UMLS:C5680952 semapv:UnspecifiedMatching MONDO:0957404 obsolete pyogenic autoinflammatory syndrome of childhood skos:exactMatch Orphanet:324942 Pyogenic autoinflammatory syndrome of childhood semapv:UnspecifiedMatching MONDO:0957405 granulomatous autoinflammatory syndrome of childhood skos:exactMatch MEDGEN:1842911 semapv:UnspecifiedMatching MONDO:0957405 granulomatous autoinflammatory syndrome of childhood skos:exactMatch Orphanet:324950 Granulomatous autoinflammatory syndrome of childhood semapv:UnspecifiedMatching MONDO:0957405 granulomatous autoinflammatory syndrome of childhood skos:exactMatch UMLS:C5680954 semapv:UnspecifiedMatching MONDO:0957408 type 1 interferonopathy of childhood skos:exactMatch MEDGEN:1843010 semapv:UnspecifiedMatching MONDO:0957408 type 1 interferonopathy of childhood skos:exactMatch Orphanet:481671 Type 1 interferonopathy of childhood semapv:UnspecifiedMatching MONDO:0957408 type 1 interferonopathy of childhood skos:exactMatch UMLS:C5681250 semapv:UnspecifiedMatching MONDO:0957421 borna virus encephalitis skos:exactMatch MEDGEN:1843023 semapv:UnspecifiedMatching MONDO:0957421 borna virus encephalitis skos:exactMatch Orphanet:637051 Borna virus encephalitis semapv:UnspecifiedMatching MONDO:0957421 borna virus encephalitis skos:exactMatch UMLS:C5816783 semapv:UnspecifiedMatching MONDO:0957423 immunotherapy induced hypophysitis skos:exactMatch MEDGEN:1843401 semapv:UnspecifiedMatching MONDO:0957423 immunotherapy induced hypophysitis skos:exactMatch Orphanet:641350 Immunotherapy induced hypophysitis semapv:UnspecifiedMatching MONDO:0957423 immunotherapy induced hypophysitis skos:exactMatch UMLS:C5816794 semapv:UnspecifiedMatching MONDO:0957427 B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2) skos:exactMatch MEDGEN:1843410 semapv:UnspecifiedMatching MONDO:0957427 B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2) skos:exactMatch Orphanet:641372 B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2) semapv:UnspecifiedMatching MONDO:0957427 B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2) skos:exactMatch UMLS:C5816790 semapv:UnspecifiedMatching MONDO:0957428 B-lymphoblastic leukemia/lymphoma with t(17;19) skos:exactMatch MEDGEN:1845507 semapv:UnspecifiedMatching MONDO:0957428 B-lymphoblastic leukemia/lymphoma with t(17;19) skos:exactMatch Orphanet:641375 B-lymphoblastic leukemia/lymphoma with t(17;19) semapv:UnspecifiedMatching MONDO:0957428 B-lymphoblastic leukemia/lymphoma with t(17;19) skos:exactMatch UMLS:C5856321 semapv:UnspecifiedMatching MONDO:0957430 childhood-onset schizophrenia skos:exactMatch MEDGEN:48576 semapv:UnspecifiedMatching MONDO:0957430 childhood-onset schizophrenia skos:exactMatch Orphanet:641496 Childhood-onset schizophrenia semapv:UnspecifiedMatching MONDO:0957430 childhood-onset schizophrenia skos:exactMatch UMLS:C0036346 semapv:UnspecifiedMatching MONDO:0957431 endogenous Cushing syndrome skos:exactMatch MEDGEN:1727013 semapv:UnspecifiedMatching MONDO:0957431 endogenous Cushing syndrome skos:exactMatch Orphanet:641613 Endogenous Cushing syndrome semapv:UnspecifiedMatching MONDO:0957431 endogenous Cushing syndrome skos:exactMatch UMLS:C5419158 semapv:UnspecifiedMatching MONDO:0957432 neonatal compartment syndrome skos:exactMatch MEDGEN:1843409 semapv:UnspecifiedMatching MONDO:0957432 neonatal compartment syndrome skos:exactMatch Orphanet:641829 Neonatal compartment syndrome semapv:UnspecifiedMatching MONDO:0957432 neonatal compartment syndrome skos:exactMatch UMLS:C5782100 semapv:UnspecifiedMatching MONDO:0957433 primary pulmonary vein stenosis skos:exactMatch MEDGEN:539576 semapv:UnspecifiedMatching MONDO:0957433 primary pulmonary vein stenosis skos:exactMatch Orphanet:642071 Primary pulmonary vein stenosis semapv:UnspecifiedMatching MONDO:0957433 primary pulmonary vein stenosis skos:exactMatch UMLS:C0265915 semapv:UnspecifiedMatching MONDO:0957442 autosomal recessive ataxia due to PEX16 deficiency skos:exactMatch MEDGEN:1843419 semapv:UnspecifiedMatching MONDO:0957442 autosomal recessive ataxia due to PEX16 deficiency skos:exactMatch Orphanet:642954 Autosomal recessive ataxia due to PEX16 deficiency semapv:UnspecifiedMatching MONDO:0957442 autosomal recessive ataxia due to PEX16 deficiency skos:exactMatch UMLS:C5816797 semapv:UnspecifiedMatching MONDO:0957443 autosomal recessive ataxia due to PEX2 deficiency skos:exactMatch MEDGEN:1843414 semapv:UnspecifiedMatching MONDO:0957443 autosomal recessive ataxia due to PEX2 deficiency skos:exactMatch Orphanet:642965 Autosomal recessive ataxia due to PEX2 deficiency semapv:UnspecifiedMatching MONDO:0957443 autosomal recessive ataxia due to PEX2 deficiency skos:exactMatch UMLS:C5816796 semapv:UnspecifiedMatching MONDO:0957451 non-terminal myelocystocele skos:exactMatch MEDGEN:1843415 semapv:UnspecifiedMatching MONDO:0957451 non-terminal myelocystocele skos:exactMatch Orphanet:645340 Non-terminal myelocystocele semapv:UnspecifiedMatching MONDO:0957451 non-terminal myelocystocele skos:exactMatch UMLS:C5816719 semapv:UnspecifiedMatching MONDO:0957452 segmental arterial mediolysis skos:exactMatch MEDGEN:1387331 semapv:UnspecifiedMatching MONDO:0957452 segmental arterial mediolysis skos:exactMatch Orphanet:645350 Segmental arterial mediolysis semapv:UnspecifiedMatching MONDO:0957452 segmental arterial mediolysis skos:exactMatch UMLS:C4517096 semapv:UnspecifiedMatching MONDO:0957452 segmental arterial mediolysis skos:exactMatch icd11.foundation:1160127418 Segmental arterial mediolysis semapv:UnspecifiedMatching MONDO:0957453 true myelomeningocele skos:exactMatch MEDGEN:1843418 semapv:UnspecifiedMatching MONDO:0957453 true myelomeningocele skos:exactMatch Orphanet:645383 True myelomeningocele semapv:UnspecifiedMatching MONDO:0957453 true myelomeningocele skos:exactMatch UMLS:C5816713 semapv:UnspecifiedMatching MONDO:0957454 hemi-myelomeningocele skos:exactMatch MEDGEN:1843407 semapv:UnspecifiedMatching MONDO:0957454 hemi-myelomeningocele skos:exactMatch Orphanet:645388 Hemi-myelomeningocele semapv:UnspecifiedMatching MONDO:0957454 hemi-myelomeningocele skos:exactMatch UMLS:C5816710 semapv:UnspecifiedMatching MONDO:0957456 classical dermatomyositis skos:exactMatch MEDGEN:1843411 semapv:UnspecifiedMatching MONDO:0957456 classical dermatomyositis skos:exactMatch Orphanet:645613 Classical dermatomyositis semapv:UnspecifiedMatching MONDO:0957456 classical dermatomyositis skos:exactMatch UMLS:C5816707 semapv:UnspecifiedMatching MONDO:0957458 adermatopathic dermatomyositis skos:exactMatch MEDGEN:1843427 semapv:UnspecifiedMatching MONDO:0957458 adermatopathic dermatomyositis skos:exactMatch Orphanet:645626 Adermatopathic dermatomyositis semapv:UnspecifiedMatching MONDO:0957458 adermatopathic dermatomyositis skos:exactMatch UMLS:C5816708 semapv:UnspecifiedMatching MONDO:0957459 congenital esophageal stenosis skos:exactMatch MEDGEN:743886 semapv:UnspecifiedMatching MONDO:0957459 congenital esophageal stenosis skos:exactMatch Orphanet:645749 Congenital esophageal stenosis semapv:UnspecifiedMatching MONDO:0957459 congenital esophageal stenosis skos:exactMatch UMLS:C1963580 semapv:UnspecifiedMatching MONDO:0957460 spontaneous intestinal perforation skos:exactMatch MEDGEN:856598 semapv:UnspecifiedMatching MONDO:0957460 spontaneous intestinal perforation skos:exactMatch Orphanet:645793 Spontaneous intestinal perforation semapv:UnspecifiedMatching MONDO:0957460 spontaneous intestinal perforation skos:exactMatch UMLS:C3897004 semapv:UnspecifiedMatching MONDO:0957460 spontaneous intestinal perforation skos:exactMatch icd11.foundation:1355081169 Postnatal isolated ileal perforation semapv:UnspecifiedMatching MONDO:0957461 primary tuberculous lymphadenitis skos:exactMatch MEDGEN:1843412 semapv:UnspecifiedMatching MONDO:0957461 primary tuberculous lymphadenitis skos:exactMatch Orphanet:645807 Primary tuberculous lymphadenitis semapv:UnspecifiedMatching MONDO:0957461 primary tuberculous lymphadenitis skos:exactMatch UMLS:C5816704 semapv:UnspecifiedMatching MONDO:0957461 primary tuberculous lymphadenitis skos:exactMatch icd11.foundation:870345553 Tuberculous peripheral lymphadenopathy semapv:UnspecifiedMatching MONDO:0957462 primary pulmonary tuberculosis skos:exactMatch Orphanet:645814 Primary pulmonary tuberculosis semapv:UnspecifiedMatching MONDO:0957462 primary pulmonary tuberculosis skos:exactMatch icd11.foundation:882244568 Tuberculosis of the respiratory system semapv:UnspecifiedMatching MONDO:0957463 primary bone and joint tuberculosis skos:exactMatch MEDGEN:1843400 semapv:UnspecifiedMatching MONDO:0957463 primary bone and joint tuberculosis skos:exactMatch Orphanet:645822 Primary bone and joint tuberculosis semapv:UnspecifiedMatching MONDO:0957463 primary bone and joint tuberculosis skos:exactMatch UMLS:C5816705 semapv:UnspecifiedMatching MONDO:0957464 primary cutaneous tuberculosis skos:exactMatch MEDGEN:1843421 semapv:UnspecifiedMatching MONDO:0957464 primary cutaneous tuberculosis skos:exactMatch Orphanet:645849 Primary cutaneous tuberculosis semapv:UnspecifiedMatching MONDO:0957464 primary cutaneous tuberculosis skos:exactMatch UMLS:C5816706 semapv:UnspecifiedMatching MONDO:0957465 multifocal tuberculosis skos:exactMatch MEDGEN:1843417 semapv:UnspecifiedMatching MONDO:0957465 multifocal tuberculosis skos:exactMatch Orphanet:645854 Multifocal tuberculosis semapv:UnspecifiedMatching MONDO:0957465 multifocal tuberculosis skos:exactMatch UMLS:C5816701 semapv:UnspecifiedMatching MONDO:0957466 primary tuberculosis of the digestive system skos:exactMatch MEDGEN:1843420 semapv:UnspecifiedMatching MONDO:0957466 primary tuberculosis of the digestive system skos:exactMatch Orphanet:645859 Primary tuberculosis of the digestive system semapv:UnspecifiedMatching MONDO:0957466 primary tuberculosis of the digestive system skos:exactMatch UMLS:C5816702 semapv:UnspecifiedMatching MONDO:0957466 primary tuberculosis of the digestive system skos:exactMatch icd11.foundation:1873777499 Tuberculosis of the digestive system semapv:UnspecifiedMatching MONDO:0957467 primary genito-urinary tuberculosis skos:exactMatch Orphanet:645874 Primary genito-urinary tuberculosis semapv:UnspecifiedMatching MONDO:0957473 craniosynostosis-facial dysmorphism-chiari-1 malformation-developmental and language delay syndrome skos:exactMatch MEDGEN:1843399 semapv:UnspecifiedMatching MONDO:0957473 craniosynostosis-facial dysmorphism-chiari-1 malformation-developmental and language delay syndrome skos:exactMatch Orphanet:647681 Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome semapv:UnspecifiedMatching MONDO:0957473 craniosynostosis-facial dysmorphism-chiari-1 malformation-developmental and language delay syndrome skos:exactMatch UMLS:C5816752 semapv:UnspecifiedMatching MONDO:0957476 isolated persistent urogenital sinus skos:exactMatch MEDGEN:1843424 semapv:UnspecifiedMatching MONDO:0957476 isolated persistent urogenital sinus skos:exactMatch Orphanet:647794 Isolated persistent urogenital sinus semapv:UnspecifiedMatching MONDO:0957476 isolated persistent urogenital sinus skos:exactMatch UMLS:C5816754 semapv:UnspecifiedMatching MONDO:0957477 MYT1L-related developmental delay-intellectual disability-obesity syndrome skos:exactMatch MEDGEN:1843395 semapv:UnspecifiedMatching MONDO:0957477 MYT1L-related developmental delay-intellectual disability-obesity syndrome skos:exactMatch Orphanet:647799 MYT1L-related developmental delay-intellectual disability-obesity syndrome semapv:UnspecifiedMatching MONDO:0957477 MYT1L-related developmental delay-intellectual disability-obesity syndrome skos:exactMatch UMLS:C5816753 semapv:UnspecifiedMatching MONDO:0957481 idiopathic pregnancy-associated osteoporosis skos:exactMatch MEDGEN:1843391 semapv:UnspecifiedMatching MONDO:0957481 idiopathic pregnancy-associated osteoporosis skos:exactMatch Orphanet:647823 Idiopathic pregnancy-associated osteoporosis semapv:UnspecifiedMatching MONDO:0957481 idiopathic pregnancy-associated osteoporosis skos:exactMatch UMLS:C5782297 semapv:UnspecifiedMatching MONDO:0957487 idiopathic catatonia skos:exactMatch MEDGEN:1843416 semapv:UnspecifiedMatching MONDO:0957487 idiopathic catatonia skos:exactMatch Orphanet:648919 Idiopathic catatonia semapv:UnspecifiedMatching MONDO:0957487 idiopathic catatonia skos:exactMatch UMLS:C5816742 semapv:UnspecifiedMatching MONDO:0957494 autoinflammatory disease, multisystem, with immune dysregulation, X-linked skos:exactMatch MEDGEN:1840213 semapv:UnspecifiedMatching MONDO:0957494 autoinflammatory disease, multisystem, with immune dysregulation, X-linked skos:exactMatch OMIM:301109 autoinflammatory disease, multisystem, with immune dysregulation, X-linked semapv:UnspecifiedMatching MONDO:0957494 autoinflammatory disease, multisystem, with immune dysregulation, X-linked skos:exactMatch UMLS:C5829577 semapv:UnspecifiedMatching MONDO:0957495 hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature skos:exactMatch MEDGEN:1840221 semapv:UnspecifiedMatching MONDO:0957495 hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature skos:exactMatch OMIM:301110 hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature semapv:UnspecifiedMatching MONDO:0957495 hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature skos:exactMatch UMLS:C5829585 semapv:UnspecifiedMatching MONDO:0957496 intellectual developmental disorder, X-linked 112 skos:exactMatch MEDGEN:1840225 semapv:UnspecifiedMatching MONDO:0957496 intellectual developmental disorder, X-linked 112 skos:exactMatch OMIM:301111 intellectual developmental disorder, X-linked 112 semapv:UnspecifiedMatching MONDO:0957496 intellectual developmental disorder, X-linked 112 skos:exactMatch UMLS:C5829589 semapv:UnspecifiedMatching MONDO:0957497 disabling pansclerotic morphea of childhood skos:exactMatch DOID:0081373 disabling pansclerotic morphea semapv:UnspecifiedMatching MONDO:0957497 disabling pansclerotic morphea of childhood skos:exactMatch MEDGEN:858243 semapv:UnspecifiedMatching MONDO:0957497 disabling pansclerotic morphea of childhood skos:exactMatch OMIM:620443 disabling pansclerotic morphea of childhood semapv:UnspecifiedMatching MONDO:0957497 disabling pansclerotic morphea of childhood skos:exactMatch UMLS:C3898649 semapv:UnspecifiedMatching MONDO:0957519 diffuse gastric cancer skos:exactMatch DOID:0080763 diffuse gastric cancer semapv:UnspecifiedMatching MONDO:0957524 COX deficiency, benign infantile mitochondrial myopathy skos:exactMatch DOID:0081377 COX deficiency, benign infantile mitochondrial myopathy semapv:UnspecifiedMatching MONDO:0957530 breast-ovarian cancer, familial, susceptibility to, 5 skos:exactMatch MEDGEN:1841251 semapv:UnspecifiedMatching MONDO:0957530 breast-ovarian cancer, familial, susceptibility to, 5 skos:exactMatch OMIM:620442 breast-ovarian cancer, familial, susceptibility to, 5 semapv:UnspecifiedMatching MONDO:0957530 breast-ovarian cancer, familial, susceptibility to, 5 skos:exactMatch UMLS:C5830615 semapv:UnspecifiedMatching MONDO:0957531 neurodevelopmental disorder with microcephaly and movement abnormalities skos:exactMatch MEDGEN:1841260 semapv:UnspecifiedMatching MONDO:0957531 neurodevelopmental disorder with microcephaly and movement abnormalities skos:exactMatch OMIM:620445 neurodevelopmental disorder with microcephaly and movement abnormalities semapv:UnspecifiedMatching MONDO:0957531 neurodevelopmental disorder with microcephaly and movement abnormalities skos:exactMatch UMLS:C5830624 semapv:UnspecifiedMatching MONDO:0957533 megalencephalic leukoencephalopathy with subcortical cysts 3 skos:exactMatch MEDGEN:1841261 semapv:UnspecifiedMatching MONDO:0957533 megalencephalic leukoencephalopathy with subcortical cysts 3 skos:exactMatch OMIM:620447 megalencephalic leukoencephalopathy with subcortical cysts 3 semapv:UnspecifiedMatching MONDO:0957533 megalencephalic leukoencephalopathy with subcortical cysts 3 skos:exactMatch UMLS:C5830625 semapv:UnspecifiedMatching MONDO:0957534 megalencephalic leukoencephalopathy with subcortical cysts 4, remitting skos:exactMatch MEDGEN:1841264 semapv:UnspecifiedMatching MONDO:0957534 megalencephalic leukoencephalopathy with subcortical cysts 4, remitting skos:exactMatch OMIM:620448 megalencephalic leukoencephalopathy with subcortical cysts 4, remitting semapv:UnspecifiedMatching MONDO:0957534 megalencephalic leukoencephalopathy with subcortical cysts 4, remitting skos:exactMatch UMLS:C5830628 semapv:UnspecifiedMatching MONDO:0957535 immunodeficiency 112 skos:exactMatch DOID:0061079 immunodeficiency 112 semapv:UnspecifiedMatching MONDO:0957535 immunodeficiency 112 skos:exactMatch MEDGEN:1841269 semapv:UnspecifiedMatching MONDO:0957535 immunodeficiency 112 skos:exactMatch OMIM:620449 immunodeficiency 112 semapv:UnspecifiedMatching MONDO:0957535 immunodeficiency 112 skos:exactMatch UMLS:C5830633 semapv:UnspecifiedMatching MONDO:0957536 intellectual developmental disorder, autosomal dominant 73 skos:exactMatch DOID:0061046 autosomal dominant intellectual developmental disorder 73 semapv:UnspecifiedMatching MONDO:0957536 intellectual developmental disorder, autosomal dominant 73 skos:exactMatch MEDGEN:1841272 semapv:UnspecifiedMatching MONDO:0957536 intellectual developmental disorder, autosomal dominant 73 skos:exactMatch OMIM:620450 intellectual developmental disorder, autosomal dominant 73 semapv:UnspecifiedMatching MONDO:0957536 intellectual developmental disorder, autosomal dominant 73 skos:exactMatch UMLS:C5830636 semapv:UnspecifiedMatching MONDO:0957537 combined oxidative phosphorylation deficiency 58 skos:exactMatch MEDGEN:1841277 semapv:UnspecifiedMatching MONDO:0957537 combined oxidative phosphorylation deficiency 58 skos:exactMatch OMIM:620451 combined oxidative phosphorylation deficiency 58 semapv:UnspecifiedMatching MONDO:0957537 combined oxidative phosphorylation deficiency 58 skos:exactMatch UMLS:C5830641 semapv:UnspecifiedMatching MONDO:0957538 amyotrophic lateral sclerosis 28 skos:exactMatch DOID:0081382 amyotrophic lateral sclerosis type 28 semapv:UnspecifiedMatching MONDO:0957538 amyotrophic lateral sclerosis 28 skos:exactMatch MEDGEN:1841278 semapv:UnspecifiedMatching MONDO:0957538 amyotrophic lateral sclerosis 28 skos:exactMatch OMIM:620452 amyotrophic lateral sclerosis 28 semapv:UnspecifiedMatching MONDO:0957538 amyotrophic lateral sclerosis 28 skos:exactMatch UMLS:C5830642 semapv:UnspecifiedMatching MONDO:0957539 dystonia 22, juvenile-onset skos:exactMatch DOID:0060966 dystonia 22, juvenile-onset semapv:UnspecifiedMatching MONDO:0957539 dystonia 22, juvenile-onset skos:exactMatch MEDGEN:1841281 semapv:UnspecifiedMatching MONDO:0957539 dystonia 22, juvenile-onset skos:exactMatch OMIM:620453 dystonia 22, juvenile-onset semapv:UnspecifiedMatching MONDO:0957539 dystonia 22, juvenile-onset skos:exactMatch UMLS:C5830645 semapv:UnspecifiedMatching MONDO:0957540 congenital disorder of glycosylation, type IIaa skos:exactMatch MEDGEN:1841287 semapv:UnspecifiedMatching MONDO:0957540 congenital disorder of glycosylation, type IIaa skos:exactMatch OMIM:620454 congenital disorder of glycosylation, type iiaa semapv:UnspecifiedMatching MONDO:0957540 congenital disorder of glycosylation, type IIaa skos:exactMatch UMLS:C5830651 semapv:UnspecifiedMatching MONDO:0957541 neurodevelopmental disorder with hypotonia and speech delay, with or without seizures skos:exactMatch DOID:0070512 neurodevelopmental disorder with hypotonia and speech delay semapv:UnspecifiedMatching MONDO:0957541 neurodevelopmental disorder with hypotonia and speech delay, with or without seizures skos:exactMatch MEDGEN:1841290 semapv:UnspecifiedMatching MONDO:0957541 neurodevelopmental disorder with hypotonia and speech delay, with or without seizures skos:exactMatch OMIM:620455 neurodevelopmental disorder with hypotonia and speech delay, with or without seizures semapv:UnspecifiedMatching MONDO:0957541 neurodevelopmental disorder with hypotonia and speech delay, with or without seizures skos:exactMatch UMLS:C5830654 semapv:UnspecifiedMatching MONDO:0957542 dystonia 22, adult-onset skos:exactMatch DOID:0060967 dystonia 22, adult-onset semapv:UnspecifiedMatching MONDO:0957542 dystonia 22, adult-onset skos:exactMatch MEDGEN:1841294 semapv:UnspecifiedMatching MONDO:0957542 dystonia 22, adult-onset skos:exactMatch OMIM:620456 dystonia 22, adult-onset semapv:UnspecifiedMatching MONDO:0957542 dystonia 22, adult-onset skos:exactMatch UMLS:C5830658 semapv:UnspecifiedMatching MONDO:0957543 auriculocondylar syndrome 4 skos:exactMatch MEDGEN:1841295 semapv:UnspecifiedMatching MONDO:0957543 auriculocondylar syndrome 4 skos:exactMatch OMIM:620457 auriculocondylar syndrome 4 semapv:UnspecifiedMatching MONDO:0957543 auriculocondylar syndrome 4 skos:exactMatch UMLS:C5830659 semapv:UnspecifiedMatching MONDO:0957544 auriculocondylar syndrome 2B skos:exactMatch MEDGEN:1841300 semapv:UnspecifiedMatching MONDO:0957544 auriculocondylar syndrome 2B skos:exactMatch OMIM:620458 auriculocondylar syndrome 2b semapv:UnspecifiedMatching MONDO:0957544 auriculocondylar syndrome 2B skos:exactMatch UMLS:C5830664 semapv:UnspecifiedMatching MONDO:0957545 cardiomyopathy, dilated, 2I skos:exactMatch MEDGEN:1841321 semapv:UnspecifiedMatching MONDO:0957545 cardiomyopathy, dilated, 2I skos:exactMatch OMIM:620462 cardiomyopathy, dilated, 2i semapv:UnspecifiedMatching MONDO:0957545 cardiomyopathy, dilated, 2I skos:exactMatch UMLS:C5830685 semapv:UnspecifiedMatching MONDO:0957553 Houge-Janssens syndrome skos:exactMatch OMIMPS:616355 Houge-Janssens syndrome semapv:UnspecifiedMatching MONDO:0957556 congenital pulmonary vein atresia skos:exactMatch MEDGEN:576417 semapv:UnspecifiedMatching MONDO:0957556 congenital pulmonary vein atresia skos:exactMatch Orphanet:99126 Congenital pulmonary vein atresia semapv:UnspecifiedMatching MONDO:0957556 congenital pulmonary vein atresia skos:exactMatch UMLS:C0344679 semapv:UnspecifiedMatching MONDO:0957560 hearing loss, noise-induced, susceptibility to skos:exactMatch MEDGEN:414426 semapv:UnspecifiedMatching MONDO:0957560 hearing loss, noise-induced, susceptibility to skos:exactMatch OMIM:613035 hearing loss, noise-induced, susceptibility to semapv:UnspecifiedMatching MONDO:0957560 hearing loss, noise-induced, susceptibility to skos:exactMatch UMLS:C2751629 semapv:UnspecifiedMatching MONDO:0957561 encephalitis, acute, infection-induced, susceptibility to, 12 skos:exactMatch MEDGEN:1846830 semapv:UnspecifiedMatching MONDO:0957561 encephalitis, acute, infection-induced, susceptibility to, 12 skos:exactMatch OMIM:620461 encephalitis, acute, infection-induced, susceptibility to, 12 semapv:UnspecifiedMatching MONDO:0957561 encephalitis, acute, infection-induced, susceptibility to, 12 skos:exactMatch UMLS:C5882673 semapv:UnspecifiedMatching MONDO:0957563 cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay skos:exactMatch MEDGEN:1848439 semapv:UnspecifiedMatching MONDO:0957563 cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay skos:exactMatch OMIM:620469 cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay semapv:UnspecifiedMatching MONDO:0957563 cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay skos:exactMatch UMLS:C5882675 semapv:UnspecifiedMatching MONDO:0957564 congenital smooth muscle hamartoma, with or without hemihypertrophy skos:exactMatch MEDGEN:1847218 semapv:UnspecifiedMatching MONDO:0957564 congenital smooth muscle hamartoma, with or without hemihypertrophy skos:exactMatch OMIM:620470 congenital smooth muscle hamartoma, with or without hemihypertrophy semapv:UnspecifiedMatching MONDO:0957564 congenital smooth muscle hamartoma, with or without hemihypertrophy skos:exactMatch UMLS:C5882676 semapv:UnspecifiedMatching MONDO:0957572 thrombocytopenia 9 skos:exactMatch MEDGEN:1844414 semapv:UnspecifiedMatching MONDO:0957572 thrombocytopenia 9 skos:exactMatch OMIM:620478 thrombocytopenia 9 semapv:UnspecifiedMatching MONDO:0957572 thrombocytopenia 9 skos:exactMatch UMLS:C5882678 semapv:UnspecifiedMatching MONDO:0957575 amegakaryocytic thrombocytopenia, congenital, 2 skos:exactMatch DOID:0061002 congenital amegakaryocytic thrombocytopenia 2 semapv:UnspecifiedMatching MONDO:0957575 amegakaryocytic thrombocytopenia, congenital, 2 skos:exactMatch MEDGEN:1848998 semapv:UnspecifiedMatching MONDO:0957575 amegakaryocytic thrombocytopenia, congenital, 2 skos:exactMatch OMIM:620481 amegakaryocytic thrombocytopenia, congenital, 2 semapv:UnspecifiedMatching MONDO:0957575 amegakaryocytic thrombocytopenia, congenital, 2 skos:exactMatch UMLS:C5882679 semapv:UnspecifiedMatching MONDO:0957576 Parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development skos:exactMatch DOID:0070486 Parkinson's disease 25 semapv:UnspecifiedMatching MONDO:0957576 Parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development skos:exactMatch MEDGEN:1845571 semapv:UnspecifiedMatching MONDO:0957576 Parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development skos:exactMatch OMIM:620482 parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development semapv:UnspecifiedMatching MONDO:0957576 Parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development skos:exactMatch UMLS:C5882680 semapv:UnspecifiedMatching MONDO:0957577 variegate porphyria, childhood-onset skos:exactMatch MEDGEN:1849794 semapv:UnspecifiedMatching MONDO:0957577 variegate porphyria, childhood-onset skos:exactMatch OMIM:620483 variegate porphyria, childhood-onset semapv:UnspecifiedMatching MONDO:0957577 variegate porphyria, childhood-onset skos:exactMatch UMLS:C5882681 semapv:UnspecifiedMatching MONDO:0957578 thrombocytopenia 10 skos:exactMatch MEDGEN:1847819 semapv:UnspecifiedMatching MONDO:0957578 thrombocytopenia 10 skos:exactMatch OMIM:620484 thrombocytopenia 10 semapv:UnspecifiedMatching MONDO:0957578 thrombocytopenia 10 skos:exactMatch UMLS:C5882682 semapv:UnspecifiedMatching MONDO:0957580 bleeding disorder, platelet-type, 25 skos:exactMatch MEDGEN:1846290 semapv:UnspecifiedMatching MONDO:0957580 bleeding disorder, platelet-type, 25 skos:exactMatch OMIM:620486 bleeding disorder, platelet-type, 25 semapv:UnspecifiedMatching MONDO:0957580 bleeding disorder, platelet-type, 25 skos:exactMatch UMLS:C5882683 semapv:UnspecifiedMatching MONDO:0957583 neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities skos:exactMatch DOID:0070513 neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities semapv:UnspecifiedMatching MONDO:0957583 neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities skos:exactMatch MEDGEN:1852093 semapv:UnspecifiedMatching MONDO:0957583 neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities skos:exactMatch OMIM:620489 neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities semapv:UnspecifiedMatching MONDO:0957583 neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities skos:exactMatch UMLS:C5882684 semapv:UnspecifiedMatching MONDO:0957584 spermatogenic failure 85 skos:exactMatch DOID:0070584 spermatogenic failure 85 semapv:UnspecifiedMatching MONDO:0957584 spermatogenic failure 85 skos:exactMatch MEDGEN:1849976 semapv:UnspecifiedMatching MONDO:0957584 spermatogenic failure 85 skos:exactMatch OMIM:620490 spermatogenic failure 85 semapv:UnspecifiedMatching MONDO:0957584 spermatogenic failure 85 skos:exactMatch UMLS:C5882685 semapv:UnspecifiedMatching MONDO:0957588 neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies skos:exactMatch MEDGEN:1847194 semapv:UnspecifiedMatching MONDO:0957588 neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies skos:exactMatch OMIM:620494 neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies semapv:UnspecifiedMatching MONDO:0957588 neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies skos:exactMatch UMLS:C5882686 semapv:UnspecifiedMatching MONDO:0957593 spermatogenic failure 86 skos:exactMatch DOID:0070585 spermatogenic failure 86 semapv:UnspecifiedMatching MONDO:0957593 spermatogenic failure 86 skos:exactMatch MEDGEN:1847370 semapv:UnspecifiedMatching MONDO:0957593 spermatogenic failure 86 skos:exactMatch OMIM:620499 spermatogenic failure 86 semapv:UnspecifiedMatching MONDO:0957593 spermatogenic failure 86 skos:exactMatch UMLS:C5882755 semapv:UnspecifiedMatching MONDO:0957594 spermatogenic failure 87 skos:exactMatch DOID:0070586 spermatogenic failure 87 semapv:UnspecifiedMatching MONDO:0957594 spermatogenic failure 87 skos:exactMatch MEDGEN:1852637 semapv:UnspecifiedMatching MONDO:0957594 spermatogenic failure 87 skos:exactMatch OMIM:620500 spermatogenic failure 87 semapv:UnspecifiedMatching MONDO:0957594 spermatogenic failure 87 skos:exactMatch UMLS:C5882687 semapv:UnspecifiedMatching MONDO:0957595 Ziegler-Huang syndrome skos:exactMatch MEDGEN:1844409 semapv:UnspecifiedMatching MONDO:0957595 Ziegler-Huang syndrome skos:exactMatch OMIM:620501 ziegler-huang syndrome semapv:UnspecifiedMatching MONDO:0957595 Ziegler-Huang syndrome skos:exactMatch UMLS:C5882688 semapv:UnspecifiedMatching MONDO:0957599 epilepsy, early-onset skos:exactMatch OMIMPS:617290 Epilepsy, early-onset semapv:UnspecifiedMatching MONDO:0957779 neurodevelopmental disorder with language delay and variable cognitive abnormalities skos:exactMatch MEDGEN:1850358 semapv:UnspecifiedMatching MONDO:0957779 neurodevelopmental disorder with language delay and variable cognitive abnormalities skos:exactMatch OMIM:620502 neurodevelopmental disorder with language delay and variable cognitive abnormalities semapv:UnspecifiedMatching MONDO:0957779 neurodevelopmental disorder with language delay and variable cognitive abnormalities skos:exactMatch UMLS:C5882689 semapv:UnspecifiedMatching MONDO:0957780 developmental and epileptic encephalopathy 111 skos:exactMatch MEDGEN:1846991 semapv:UnspecifiedMatching MONDO:0957780 developmental and epileptic encephalopathy 111 skos:exactMatch OMIM:620504 developmental and epileptic encephalopathy 111 semapv:UnspecifiedMatching MONDO:0957780 developmental and epileptic encephalopathy 111 skos:exactMatch UMLS:C5882690 semapv:UnspecifiedMatching MONDO:0957783 ichthyosis with erythrokeratoderma skos:exactMatch MEDGEN:1852819 semapv:UnspecifiedMatching MONDO:0957783 ichthyosis with erythrokeratoderma skos:exactMatch OMIM:620507 ichthyosis with erythrokeratoderma semapv:UnspecifiedMatching MONDO:0957783 ichthyosis with erythrokeratoderma skos:exactMatch UMLS:C5882691 semapv:UnspecifiedMatching MONDO:0957786 xerosis and growth failure with immune and pulmonary dysfunction syndrome skos:exactMatch MEDGEN:1848919 semapv:UnspecifiedMatching MONDO:0957786 xerosis and growth failure with immune and pulmonary dysfunction syndrome skos:exactMatch OMIM:620510 xerosis and growth failure with immune and pulmonary dysfunction syndrome semapv:UnspecifiedMatching MONDO:0957786 xerosis and growth failure with immune and pulmonary dysfunction syndrome skos:exactMatch UMLS:C5882692 semapv:UnspecifiedMatching MONDO:0957787 Fliedner-Zweier syndrome skos:exactMatch DOID:0070653 Fliedner-Zweier syndrome semapv:UnspecifiedMatching MONDO:0957787 Fliedner-Zweier syndrome skos:exactMatch MEDGEN:1845438 semapv:UnspecifiedMatching MONDO:0957787 Fliedner-Zweier syndrome skos:exactMatch OMIM:620511 fliedner-zweier syndrome semapv:UnspecifiedMatching MONDO:0957787 Fliedner-Zweier syndrome skos:exactMatch UMLS:C5882693 semapv:UnspecifiedMatching MONDO:0957788 spastic paraplegia 18a, autosomal dominant skos:exactMatch DOID:0070640 hereditary spastic paraplegia 18A semapv:UnspecifiedMatching MONDO:0957788 spastic paraplegia 18a, autosomal dominant skos:exactMatch MEDGEN:1844217 semapv:UnspecifiedMatching MONDO:0957788 spastic paraplegia 18a, autosomal dominant skos:exactMatch OMIM:620512 spastic paraplegia 18a, autosomal dominant semapv:UnspecifiedMatching MONDO:0957788 spastic paraplegia 18a, autosomal dominant skos:exactMatch UMLS:C5882694 semapv:UnspecifiedMatching MONDO:0957790 immune dysregulation, autoimmunity, and autoinflammation skos:exactMatch MEDGEN:1847968 semapv:UnspecifiedMatching MONDO:0957790 immune dysregulation, autoimmunity, and autoinflammation skos:exactMatch OMIM:620514 immune dysregulation, autoimmunity, and autoinflammation semapv:UnspecifiedMatching MONDO:0957790 immune dysregulation, autoimmunity, and autoinflammation skos:exactMatch UMLS:C5848750 semapv:UnspecifiedMatching MONDO:0957791 neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction skos:exactMatch MEDGEN:1846192 semapv:UnspecifiedMatching MONDO:0957791 neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction skos:exactMatch OMIM:620515 neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction semapv:UnspecifiedMatching MONDO:0957791 neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction skos:exactMatch UMLS:C5882695 semapv:UnspecifiedMatching MONDO:0957795 arrhythmogenic cardiomyopathy with variable ectodermal abnormalities skos:exactMatch MEDGEN:1847702 semapv:UnspecifiedMatching MONDO:0957795 arrhythmogenic cardiomyopathy with variable ectodermal abnormalities skos:exactMatch OMIM:620519 arrhythmogenic cardiomyopathy with variable ectodermal abnormalities semapv:UnspecifiedMatching MONDO:0957795 arrhythmogenic cardiomyopathy with variable ectodermal abnormalities skos:exactMatch UMLS:C5882696 semapv:UnspecifiedMatching MONDO:0957807 hyper-IgE syndrome 6, autosomal dominant, with recurrent infections skos:exactMatch MEDGEN:1851769 semapv:UnspecifiedMatching MONDO:0957807 hyper-IgE syndrome 6, autosomal dominant, with recurrent infections skos:exactMatch OMIM:620532 hyper-ige syndrome 6, autosomal dominant, with recurrent infections semapv:UnspecifiedMatching MONDO:0957807 hyper-IgE syndrome 6, autosomal dominant, with recurrent infections skos:exactMatch UMLS:C5848786 semapv:UnspecifiedMatching MONDO:0957809 neutropenia, severe congenital, 10, autosomal recessive skos:exactMatch MEDGEN:1851433 semapv:UnspecifiedMatching MONDO:0957809 neutropenia, severe congenital, 10, autosomal recessive skos:exactMatch OMIM:620534 neutropenia, severe congenital, 10, autosomal recessive semapv:UnspecifiedMatching MONDO:0957809 neutropenia, severe congenital, 10, autosomal recessive skos:exactMatch UMLS:C5882756 semapv:UnspecifiedMatching MONDO:0957810 developmental delay, dysmorphic facies, and brain anomalies skos:exactMatch DOID:0060933 developmental delay, dysmorphic facies, and brain anomalies semapv:UnspecifiedMatching MONDO:0957810 developmental delay, dysmorphic facies, and brain anomalies skos:exactMatch MEDGEN:1847857 semapv:UnspecifiedMatching MONDO:0957810 developmental delay, dysmorphic facies, and brain anomalies skos:exactMatch OMIM:620535 developmental delay, dysmorphic facies, and brain anomalies semapv:UnspecifiedMatching MONDO:0957810 developmental delay, dysmorphic facies, and brain anomalies skos:exactMatch UMLS:C5882698 semapv:UnspecifiedMatching MONDO:0957811 Alport syndrome 3b, autosomal recessive skos:exactMatch MEDGEN:1848447 semapv:UnspecifiedMatching MONDO:0957811 Alport syndrome 3b, autosomal recessive skos:exactMatch OMIM:620536 alport syndrome 3b, autosomal recessive semapv:UnspecifiedMatching MONDO:0957811 Alport syndrome 3b, autosomal recessive skos:exactMatch UMLS:C5882699 semapv:UnspecifiedMatching MONDO:0957812 developmental and epileptic encephalopathy 112 skos:exactMatch MEDGEN:1845523 semapv:UnspecifiedMatching MONDO:0957812 developmental and epileptic encephalopathy 112 skos:exactMatch OMIM:620537 developmental and epileptic encephalopathy 112 semapv:UnspecifiedMatching MONDO:0957812 developmental and epileptic encephalopathy 112 skos:exactMatch UMLS:C5882700 semapv:UnspecifiedMatching MONDO:0957813 spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia skos:exactMatch DOID:0070643 hereditary spastic paraplegia 91 semapv:UnspecifiedMatching MONDO:0957813 spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia skos:exactMatch MEDGEN:1846222 semapv:UnspecifiedMatching MONDO:0957813 spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia skos:exactMatch OMIM:620538 spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia semapv:UnspecifiedMatching MONDO:0957813 spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia skos:exactMatch UMLS:C5882701 semapv:UnspecifiedMatching MONDO:0957815 developmental delay with or without epilepsy skos:exactMatch MEDGEN:1848555 semapv:UnspecifiedMatching MONDO:0957815 developmental delay with or without epilepsy skos:exactMatch OMIM:620540 developmental delay with or without epilepsy semapv:UnspecifiedMatching MONDO:0957815 developmental delay with or without epilepsy skos:exactMatch UMLS:C5882702 semapv:UnspecifiedMatching MONDO:0957819 arthrogryposis, distal, type 12 skos:exactMatch MEDGEN:1847896 semapv:UnspecifiedMatching MONDO:0957819 arthrogryposis, distal, type 12 skos:exactMatch OMIM:620545 arthrogryposis, distal, type 12 semapv:UnspecifiedMatching MONDO:0957819 arthrogryposis, distal, type 12 skos:exactMatch UMLS:C5882704 semapv:UnspecifiedMatching MONDO:0957820 congenital disorder of glycosylation, type IIbb skos:exactMatch DOID:0051047 congenital disorder of glycosylation type IIbb semapv:UnspecifiedMatching MONDO:0957820 congenital disorder of glycosylation, type IIbb skos:exactMatch MEDGEN:1846347 semapv:UnspecifiedMatching MONDO:0957820 congenital disorder of glycosylation, type IIbb skos:exactMatch OMIM:620546 congenital disorder of glycosylation, type iibb semapv:UnspecifiedMatching MONDO:0957820 congenital disorder of glycosylation, type IIbb skos:exactMatch UMLS:C5882705 semapv:UnspecifiedMatching MONDO:0957821 spermatogenic failure 88 skos:exactMatch DOID:0070587 spermatogenic failure 88 semapv:UnspecifiedMatching MONDO:0957821 spermatogenic failure 88 skos:exactMatch MEDGEN:1845113 semapv:UnspecifiedMatching MONDO:0957821 spermatogenic failure 88 skos:exactMatch OMIM:620547 spermatogenic failure 88 semapv:UnspecifiedMatching MONDO:0957821 spermatogenic failure 88 skos:exactMatch UMLS:C5882706 semapv:UnspecifiedMatching MONDO:0957822 premature ovarian failure 22 skos:exactMatch MEDGEN:1849005 semapv:UnspecifiedMatching MONDO:0957822 premature ovarian failure 22 skos:exactMatch OMIM:620548 premature ovarian failure 22 semapv:UnspecifiedMatching MONDO:0957822 premature ovarian failure 22 skos:exactMatch UMLS:C5882707 semapv:UnspecifiedMatching MONDO:0957824 optic atrophy 14 skos:exactMatch MEDGEN:1851745 semapv:UnspecifiedMatching MONDO:0957824 optic atrophy 14 skos:exactMatch OMIM:620550 optic atrophy 14 semapv:UnspecifiedMatching MONDO:0957824 optic atrophy 14 skos:exactMatch UMLS:C5882708 semapv:UnspecifiedMatching MONDO:0957825 hearing loss, autosomal recessive 121 skos:exactMatch MEDGEN:1844128 semapv:UnspecifiedMatching MONDO:0957825 hearing loss, autosomal recessive 121 skos:exactMatch OMIM:620551 deafness, autosomal recessive 121 semapv:UnspecifiedMatching MONDO:0957825 hearing loss, autosomal recessive 121 skos:exactMatch UMLS:C5882709 semapv:UnspecifiedMatching MONDO:0957832 craniometadiaphyseal osteosclerosis with hip dysplasia skos:exactMatch MEDGEN:1844026 semapv:UnspecifiedMatching MONDO:0957832 craniometadiaphyseal osteosclerosis with hip dysplasia skos:exactMatch OMIM:620558 craniometadiaphyseal osteosclerosis with hip dysplasia semapv:UnspecifiedMatching MONDO:0957832 craniometadiaphyseal osteosclerosis with hip dysplasia skos:exactMatch UMLS:C5882710 semapv:UnspecifiedMatching MONDO:0957870 leukoencephalopathy with vanishing white matter 2 skos:exactMatch DOID:0070373 leukoencephalopathy with vanishing white matter 2 semapv:UnspecifiedMatching MONDO:0957870 leukoencephalopathy with vanishing white matter 2 skos:exactMatch MEDGEN:1841040 semapv:UnspecifiedMatching MONDO:0957870 leukoencephalopathy with vanishing white matter 2 skos:exactMatch OMIM:620312 leukoencephalopathy with vanishing white matter 2 semapv:UnspecifiedMatching MONDO:0957870 leukoencephalopathy with vanishing white matter 2 skos:exactMatch UMLS:C5830404 semapv:UnspecifiedMatching MONDO:0957871 leukoencephalopathy with vanishing white matter 3 skos:exactMatch DOID:0070372 leukoencephalopathy with vanishing white matter 3 semapv:UnspecifiedMatching MONDO:0957871 leukoencephalopathy with vanishing white matter 3 skos:exactMatch MEDGEN:1841041 semapv:UnspecifiedMatching MONDO:0957871 leukoencephalopathy with vanishing white matter 3 skos:exactMatch OMIM:620313 leukoencephalopathy with vanishing white matter 3 semapv:UnspecifiedMatching MONDO:0957871 leukoencephalopathy with vanishing white matter 3 skos:exactMatch UMLS:C5830405 semapv:UnspecifiedMatching MONDO:0957872 leukoencephalopathy with vanishing white matter 4 skos:exactMatch DOID:0070371 leukoencephalopathy with vanishing white matter 4 semapv:UnspecifiedMatching MONDO:0957872 leukoencephalopathy with vanishing white matter 4 skos:exactMatch MEDGEN:1841042 semapv:UnspecifiedMatching MONDO:0957872 leukoencephalopathy with vanishing white matter 4 skos:exactMatch OMIM:620314 leukoencephalopathy with vanishing white matter 4 semapv:UnspecifiedMatching MONDO:0957872 leukoencephalopathy with vanishing white matter 4 skos:exactMatch UMLS:C5830406 semapv:UnspecifiedMatching MONDO:0957873 leukoencephalopathy with vanishing white matter 5 skos:exactMatch DOID:0070367 leukoencephalopathy with vanishing white matter 5 semapv:UnspecifiedMatching MONDO:0957873 leukoencephalopathy with vanishing white matter 5 skos:exactMatch MEDGEN:1830483 semapv:UnspecifiedMatching MONDO:0957873 leukoencephalopathy with vanishing white matter 5 skos:exactMatch OMIM:620315 leukoencephalopathy with vanishing white matter 5 semapv:UnspecifiedMatching MONDO:0957873 leukoencephalopathy with vanishing white matter 5 skos:exactMatch UMLS:C5779973 semapv:UnspecifiedMatching MONDO:0957874 neuronopathy, distal hereditary motor, autosomal recessive 9 skos:exactMatch DOID:0081428 autosomal recessive distal hereditary motor neuronopathy 9 semapv:UnspecifiedMatching MONDO:0957874 neuronopathy, distal hereditary motor, autosomal recessive 9 skos:exactMatch MEDGEN:1850177 semapv:UnspecifiedMatching MONDO:0957874 neuronopathy, distal hereditary motor, autosomal recessive 9 skos:exactMatch OMIM:620402 neuronopathy, distal hereditary motor, autosomal recessive 9 semapv:UnspecifiedMatching MONDO:0957874 neuronopathy, distal hereditary motor, autosomal recessive 9 skos:exactMatch UMLS:C5882672 semapv:UnspecifiedMatching MONDO:0957875 neuronopathy, distal hereditary motor, autosomal dominant 11 skos:exactMatch DOID:0081400 autosomal dominant distal hereditary motor neuronopathy 11 semapv:UnspecifiedMatching MONDO:0957875 neuronopathy, distal hereditary motor, autosomal dominant 11 skos:exactMatch MEDGEN:1849676 semapv:UnspecifiedMatching MONDO:0957875 neuronopathy, distal hereditary motor, autosomal dominant 11 skos:exactMatch OMIM:620528 neuronopathy, distal hereditary motor, autosomal dominant 11 semapv:UnspecifiedMatching MONDO:0957875 neuronopathy, distal hereditary motor, autosomal dominant 11 skos:exactMatch UMLS:C5882697 semapv:UnspecifiedMatching MONDO:0957876 neuronopathy, distal hereditary motor, autosomal recessive 10 skos:exactMatch DOID:0081429 autosomal recessive distal hereditary motor neuronopathy 10 semapv:UnspecifiedMatching MONDO:0957876 neuronopathy, distal hereditary motor, autosomal recessive 10 skos:exactMatch MEDGEN:1846713 semapv:UnspecifiedMatching MONDO:0957876 neuronopathy, distal hereditary motor, autosomal recessive 10 skos:exactMatch OMIM:620542 neuronopathy, distal hereditary motor, autosomal recessive 10 semapv:UnspecifiedMatching MONDO:0957876 neuronopathy, distal hereditary motor, autosomal recessive 10 skos:exactMatch UMLS:C5882703 semapv:UnspecifiedMatching MONDO:0957896 metabolic dysfunction and alcohol associated liver disease skos:exactMatch DOID:0070508 metabolic dysfunction and alcohol associated liver disease semapv:UnspecifiedMatching MONDO:0957896 metabolic dysfunction and alcohol associated liver disease skos:exactMatch MEDGEN:1872127 semapv:UnspecifiedMatching MONDO:0957896 metabolic dysfunction and alcohol associated liver disease skos:exactMatch UMLS:C5968336 semapv:UnspecifiedMatching MONDO:0957912 organophosphate-induced delayed polyneuropathy skos:exactMatch DOID:0081393 organophosphate-induced delayed polyneuropathy semapv:UnspecifiedMatching MONDO:0957919 Lui-Jee-Baron syndrome skos:exactMatch MEDGEN:1849943 semapv:UnspecifiedMatching MONDO:0957919 Lui-Jee-Baron syndrome skos:exactMatch OMIM:301114 lui-jee-baron syndrome semapv:UnspecifiedMatching MONDO:0957919 Lui-Jee-Baron syndrome skos:exactMatch UMLS:C5882664 semapv:UnspecifiedMatching MONDO:0957920 immunodeficiency 113 with autoimmunity and autoinflammation skos:exactMatch DOID:0051056 immunodeficiency 113 semapv:UnspecifiedMatching MONDO:0957920 immunodeficiency 113 with autoimmunity and autoinflammation skos:exactMatch MEDGEN:1851770 semapv:UnspecifiedMatching MONDO:0957920 immunodeficiency 113 with autoimmunity and autoinflammation skos:exactMatch OMIM:620565 immunodeficiency 113 with autoimmunity and autoinflammation semapv:UnspecifiedMatching MONDO:0957920 immunodeficiency 113 with autoimmunity and autoinflammation skos:exactMatch UMLS:C5882711 semapv:UnspecifiedMatching MONDO:0957921 Cornelia de Lange syndrome 6 skos:exactMatch DOID:0060970 Cornelia de Lange syndrome 6 semapv:UnspecifiedMatching MONDO:0957921 Cornelia de Lange syndrome 6 skos:exactMatch MEDGEN:1848930 semapv:UnspecifiedMatching MONDO:0957921 Cornelia de Lange syndrome 6 skos:exactMatch OMIM:620568 cornelia lange lange syndrome 6 semapv:UnspecifiedMatching MONDO:0957921 Cornelia de Lange syndrome 6 skos:exactMatch UMLS:C5882712 semapv:UnspecifiedMatching MONDO:0957922 ciliary dyskinesia, primary, 52 skos:exactMatch MEDGEN:1852921 semapv:UnspecifiedMatching MONDO:0957922 ciliary dyskinesia, primary, 52 skos:exactMatch OMIM:620570 ciliary dyskinesia, primary, 52 semapv:UnspecifiedMatching MONDO:0957922 ciliary dyskinesia, primary, 52 skos:exactMatch UMLS:C5882714 semapv:UnspecifiedMatching MONDO:0957928 otosclerosis 11 skos:exactMatch DOID:0060928 otosclerosis 11 semapv:UnspecifiedMatching MONDO:0957928 otosclerosis 11 skos:exactMatch MEDGEN:1846918 semapv:UnspecifiedMatching MONDO:0957928 otosclerosis 11 skos:exactMatch OMIM:620576 otosclerosis 11 semapv:UnspecifiedMatching MONDO:0957928 otosclerosis 11 skos:exactMatch UMLS:C5882715 semapv:UnspecifiedMatching MONDO:0957935 optic atrophy 15 skos:exactMatch MEDGEN:1849731 semapv:UnspecifiedMatching MONDO:0957935 optic atrophy 15 skos:exactMatch OMIM:620583 optic atrophy 15 semapv:UnspecifiedMatching MONDO:0957935 optic atrophy 15 skos:exactMatch UMLS:C5882716 semapv:UnspecifiedMatching MONDO:0957953 Garg-Mishra progeroid syndrome skos:exactMatch MEDGEN:1847272 semapv:UnspecifiedMatching MONDO:0957953 Garg-Mishra progeroid syndrome skos:exactMatch OMIM:620601 garg-mishra progeroid syndrome semapv:UnspecifiedMatching MONDO:0957953 Garg-Mishra progeroid syndrome skos:exactMatch UMLS:C5882717 semapv:UnspecifiedMatching MONDO:0957954 lymphatic malformation 14 skos:exactMatch MEDGEN:1851480 semapv:UnspecifiedMatching MONDO:0957954 lymphatic malformation 14 skos:exactMatch OMIM:620602 lymphatic malformation 14 semapv:UnspecifiedMatching MONDO:0957954 lymphatic malformation 14 skos:exactMatch UMLS:C5882718 semapv:UnspecifiedMatching MONDO:0957955 immunodeficiency 114, folate-responsive skos:exactMatch DOID:0061080 immunodeficiency 114 semapv:UnspecifiedMatching MONDO:0957955 immunodeficiency 114, folate-responsive skos:exactMatch MEDGEN:1848890 semapv:UnspecifiedMatching MONDO:0957955 immunodeficiency 114, folate-responsive skos:exactMatch OMIM:620603 immunodeficiency 114, folate-responsive semapv:UnspecifiedMatching MONDO:0957955 immunodeficiency 114, folate-responsive skos:exactMatch UMLS:C5882719 semapv:UnspecifiedMatching MONDO:0957958 spastic paraplegia 72b, autosomal recessive skos:exactMatch DOID:0070642 hereditary spastic paraplegia 72B semapv:UnspecifiedMatching MONDO:0957958 spastic paraplegia 72b, autosomal recessive skos:exactMatch MEDGEN:1844131 semapv:UnspecifiedMatching MONDO:0957958 spastic paraplegia 72b, autosomal recessive skos:exactMatch OMIM:620606 spastic paraplegia 72b, autosomal recessive semapv:UnspecifiedMatching MONDO:0957958 spastic paraplegia 72b, autosomal recessive skos:exactMatch UMLS:C5882720 semapv:UnspecifiedMatching MONDO:0957960 Long-Olsen-Distelmaier syndrome skos:exactMatch MEDGEN:1847052 semapv:UnspecifiedMatching MONDO:0957960 Long-Olsen-Distelmaier syndrome skos:exactMatch OMIM:620609 long-olsen-distelmaier syndrome semapv:UnspecifiedMatching MONDO:0957960 Long-Olsen-Distelmaier syndrome skos:exactMatch UMLS:C5882721 semapv:UnspecifiedMatching MONDO:0957961 oocyte/zygote/embryo maturation arrest 21 skos:exactMatch MEDGEN:1845812 semapv:UnspecifiedMatching MONDO:0957961 oocyte/zygote/embryo maturation arrest 21 skos:exactMatch OMIM:620610 oocyte/zygote/embryo maturation arrest 21 semapv:UnspecifiedMatching MONDO:0957961 oocyte/zygote/embryo maturation arrest 21 skos:exactMatch UMLS:C5882722 semapv:UnspecifiedMatching MONDO:0957978 optic atrophy 16 skos:exactMatch MEDGEN:1851641 semapv:UnspecifiedMatching MONDO:0957978 optic atrophy 16 skos:exactMatch OMIM:620629 optic atrophy 16 semapv:UnspecifiedMatching MONDO:0957978 optic atrophy 16 skos:exactMatch UMLS:C5882723 semapv:UnspecifiedMatching MONDO:0957981 immunodeficiency 115 with autoinflammation skos:exactMatch DOID:0061081 immunodeficiency 115 semapv:UnspecifiedMatching MONDO:0957981 immunodeficiency 115 with autoinflammation skos:exactMatch MEDGEN:1847791 semapv:UnspecifiedMatching MONDO:0957981 immunodeficiency 115 with autoinflammation skos:exactMatch OMIM:620632 immunodeficiency 115 with autoinflammation semapv:UnspecifiedMatching MONDO:0957981 immunodeficiency 115 with autoinflammation skos:exactMatch UMLS:C5882724 semapv:UnspecifiedMatching MONDO:0957984 cardiomyopathy, dilated, 2j skos:exactMatch MEDGEN:1846005 semapv:UnspecifiedMatching MONDO:0957984 cardiomyopathy, dilated, 2j skos:exactMatch OMIM:620635 cardiomyopathy, dilated, 2j semapv:UnspecifiedMatching MONDO:0957984 cardiomyopathy, dilated, 2j skos:exactMatch UMLS:C5882725 semapv:UnspecifiedMatching MONDO:0957985 neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline skos:exactMatch MEDGEN:1847831 semapv:UnspecifiedMatching MONDO:0957985 neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline skos:exactMatch OMIM:620636 neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline semapv:UnspecifiedMatching MONDO:0957985 neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline skos:exactMatch UMLS:C5882726 semapv:UnspecifiedMatching MONDO:0957988 osteogenesis imperfecta, type 23 skos:exactMatch MEDGEN:1846121 semapv:UnspecifiedMatching MONDO:0957988 osteogenesis imperfecta, type 23 skos:exactMatch OMIM:620639 osteogenesis imperfecta, type 23 semapv:UnspecifiedMatching MONDO:0957988 osteogenesis imperfecta, type 23 skos:exactMatch UMLS:C5882757 semapv:UnspecifiedMatching MONDO:0957990 Tan-Almurshedi syndrome skos:exactMatch MEDGEN:1848300 semapv:UnspecifiedMatching MONDO:0957990 Tan-Almurshedi syndrome skos:exactMatch OMIM:620641 tan-almurshedi syndrome semapv:UnspecifiedMatching MONDO:0957990 Tan-Almurshedi syndrome skos:exactMatch UMLS:C5882727 semapv:UnspecifiedMatching MONDO:0957991 ciliary dyskinesia, primary, 53 skos:exactMatch MEDGEN:1851509 semapv:UnspecifiedMatching MONDO:0957991 ciliary dyskinesia, primary, 53 skos:exactMatch OMIM:620642 ciliary dyskinesia, primary, 53 semapv:UnspecifiedMatching MONDO:0957991 ciliary dyskinesia, primary, 53 skos:exactMatch UMLS:C5882728 semapv:UnspecifiedMatching MONDO:0957992 combined oxidative phosphorylation deficiency 59 skos:exactMatch MEDGEN:1845781 semapv:UnspecifiedMatching MONDO:0957992 combined oxidative phosphorylation deficiency 59 skos:exactMatch OMIM:620646 combined oxidative phosphorylation deficiency 59 semapv:UnspecifiedMatching MONDO:0957992 combined oxidative phosphorylation deficiency 59 skos:exactMatch UMLS:C5882730 semapv:UnspecifiedMatching MONDO:0957993 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6 skos:exactMatch MEDGEN:1847098 semapv:UnspecifiedMatching MONDO:0957993 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6 skos:exactMatch OMIM:620647 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 6 semapv:UnspecifiedMatching MONDO:0957993 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6 skos:exactMatch UMLS:C5882731 semapv:UnspecifiedMatching MONDO:0957997 diabetes, deafness, developmental delay, and short stature syndrome skos:exactMatch MEDGEN:1845412 semapv:UnspecifiedMatching MONDO:0957997 diabetes, deafness, developmental delay, and short stature syndrome skos:exactMatch OMIM:620651 diabetes, deafness, developmental delay, and short stature syndrome semapv:UnspecifiedMatching MONDO:0957997 diabetes, deafness, developmental delay, and short stature syndrome skos:exactMatch UMLS:C5882732 semapv:UnspecifiedMatching MONDO:0957999 intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly skos:exactMatch MEDGEN:1850178 semapv:UnspecifiedMatching MONDO:0957999 intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly skos:exactMatch OMIM:620653 intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly semapv:UnspecifiedMatching MONDO:0957999 intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly skos:exactMatch UMLS:C5882733 semapv:UnspecifiedMatching MONDO:0958000 thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies skos:exactMatch MEDGEN:1846947 semapv:UnspecifiedMatching MONDO:0958000 thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies skos:exactMatch OMIM:620654 thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies semapv:UnspecifiedMatching MONDO:0958000 thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies skos:exactMatch UMLS:C5882734 semapv:UnspecifiedMatching MONDO:0958001 Alfadhel syndrome skos:exactMatch MEDGEN:1845825 semapv:UnspecifiedMatching MONDO:0958001 Alfadhel syndrome skos:exactMatch OMIM:620655 alfadhel syndrome semapv:UnspecifiedMatching MONDO:0958001 Alfadhel syndrome skos:exactMatch UMLS:C5882735 semapv:UnspecifiedMatching MONDO:0958005 Hoxha-Aliu syndrome skos:exactMatch MEDGEN:1846017 semapv:UnspecifiedMatching MONDO:0958005 Hoxha-Aliu syndrome skos:exactMatch OMIM:620662 hoxha-aliu syndrome semapv:UnspecifiedMatching MONDO:0958005 Hoxha-Aliu syndrome skos:exactMatch UMLS:C5882736 semapv:UnspecifiedMatching MONDO:0958006 spondyloepimetaphyseal dysplasia, Guo-Campeau type skos:exactMatch MEDGEN:1844202 semapv:UnspecifiedMatching MONDO:0958006 spondyloepimetaphyseal dysplasia, Guo-Campeau type skos:exactMatch OMIM:620663 spondyloepimetaphyseal dysplasia, guo-campeau type semapv:UnspecifiedMatching MONDO:0958006 spondyloepimetaphyseal dysplasia, Guo-Campeau type skos:exactMatch UMLS:C5882737 semapv:UnspecifiedMatching MONDO:0958009 spastic ataxia 10, autosomal recessive skos:exactMatch MEDGEN:1851662 semapv:UnspecifiedMatching MONDO:0958009 spastic ataxia 10, autosomal recessive skos:exactMatch OMIM:620666 spastic ataxia 10, autosomal recessive semapv:UnspecifiedMatching MONDO:0958009 spastic ataxia 10, autosomal recessive skos:exactMatch UMLS:C5882738 semapv:UnspecifiedMatching MONDO:0958011 immunodeficiency 117 skos:exactMatch DOID:0061083 immunodeficiency 117 semapv:UnspecifiedMatching MONDO:0958011 immunodeficiency 117 skos:exactMatch MEDGEN:1848763 semapv:UnspecifiedMatching MONDO:0958011 immunodeficiency 117 skos:exactMatch OMIM:620668 immunodeficiency 117 semapv:UnspecifiedMatching MONDO:0958011 immunodeficiency 117 skos:exactMatch Orphanet:699615 Severe mendelian susceptibility to mycobacterial diseases due to complete IRF1 deficiency semapv:UnspecifiedMatching MONDO:0958011 immunodeficiency 117 skos:exactMatch UMLS:C5882739 semapv:UnspecifiedMatching MONDO:0958012 neurodegeneration with brain iron accumulation 9 skos:exactMatch MEDGEN:1845761 semapv:UnspecifiedMatching MONDO:0958012 neurodegeneration with brain iron accumulation 9 skos:exactMatch OMIM:620669 neurodegeneration with brain iron accumulation 9 semapv:UnspecifiedMatching MONDO:0958012 neurodegeneration with brain iron accumulation 9 skos:exactMatch UMLS:C5882740 semapv:UnspecifiedMatching MONDO:0958013 immunodeficiency, common variable, 15 skos:exactMatch MEDGEN:1847802 semapv:UnspecifiedMatching MONDO:0958013 immunodeficiency, common variable, 15 skos:exactMatch OMIM:620670 immunodeficiency, common variable, 15 semapv:UnspecifiedMatching MONDO:0958013 immunodeficiency, common variable, 15 skos:exactMatch Orphanet:697417 Common variable immunodeficiency phenotype due to SEC61A1 deficiency semapv:UnspecifiedMatching MONDO:0958013 immunodeficiency, common variable, 15 skos:exactMatch UMLS:C5882741 semapv:UnspecifiedMatching MONDO:0958017 neutropenia, severe congenital, 11, autosomal dominant skos:exactMatch MEDGEN:1846394 semapv:UnspecifiedMatching MONDO:0958017 neutropenia, severe congenital, 11, autosomal dominant skos:exactMatch OMIM:620674 neutropenia, severe congenital, 11, autosomal dominant semapv:UnspecifiedMatching MONDO:0958017 neutropenia, severe congenital, 11, autosomal dominant skos:exactMatch UMLS:C5882742 semapv:UnspecifiedMatching MONDO:0958018 leukodystrophy, hypomyelinating, 27 skos:exactMatch MEDGEN:1844996 semapv:UnspecifiedMatching MONDO:0958018 leukodystrophy, hypomyelinating, 27 skos:exactMatch OMIM:620675 leukodystrophy, hypomyelinating, 27 semapv:UnspecifiedMatching MONDO:0958018 leukodystrophy, hypomyelinating, 27 skos:exactMatch UMLS:C5882743 semapv:UnspecifiedMatching MONDO:0958022 lipodystrophy, familial partial, type 8 skos:exactMatch MEDGEN:1846436 semapv:UnspecifiedMatching MONDO:0958022 lipodystrophy, familial partial, type 8 skos:exactMatch OMIM:620679 lipodystrophy, familial partial, type 8 semapv:UnspecifiedMatching MONDO:0958022 lipodystrophy, familial partial, type 8 skos:exactMatch UMLS:C5882744 semapv:UnspecifiedMatching MONDO:0958023 lipodystrophy, congenital generalized, type 5 skos:exactMatch MEDGEN:1847991 semapv:UnspecifiedMatching MONDO:0958023 lipodystrophy, congenital generalized, type 5 skos:exactMatch OMIM:620680 lipodystrophy, congenital generalized, type 5 semapv:UnspecifiedMatching MONDO:0958023 lipodystrophy, congenital generalized, type 5 skos:exactMatch UMLS:C5882745 semapv:UnspecifiedMatching MONDO:0958030 immunodeficiency 118 skos:exactMatch DOID:0061084 immunodeficiency 118 semapv:UnspecifiedMatching MONDO:0958030 immunodeficiency 118 skos:exactMatch MEDGEN:1852539 semapv:UnspecifiedMatching MONDO:0958030 immunodeficiency 118 skos:exactMatch OMIM:301115 immunodeficiency 118 semapv:UnspecifiedMatching MONDO:0958030 immunodeficiency 118 skos:exactMatch UMLS:C5882665 semapv:UnspecifiedMatching MONDO:0958034 lipodystrophy, familial partial, type 9 skos:exactMatch MEDGEN:1845936 semapv:UnspecifiedMatching MONDO:0958034 lipodystrophy, familial partial, type 9 skos:exactMatch OMIM:620683 lipodystrophy, familial partial, type 9 semapv:UnspecifiedMatching MONDO:0958034 lipodystrophy, familial partial, type 9 skos:exactMatch Orphanet:686999 Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome semapv:UnspecifiedMatching MONDO:0958034 lipodystrophy, familial partial, type 9 skos:exactMatch UMLS:C5882746 semapv:UnspecifiedMatching MONDO:0958035 premature ovarian failure 23 skos:exactMatch MEDGEN:1845723 semapv:UnspecifiedMatching MONDO:0958035 premature ovarian failure 23 skos:exactMatch OMIM:620686 premature ovarian failure 23 semapv:UnspecifiedMatching MONDO:0958035 premature ovarian failure 23 skos:exactMatch UMLS:C5882747 semapv:UnspecifiedMatching MONDO:0958037 developmental dysplasia of the hip 3 skos:exactMatch MEDGEN:1850976 semapv:UnspecifiedMatching MONDO:0958037 developmental dysplasia of the hip 3 skos:exactMatch OMIM:620690 developmental dysplasia of the hip 3 semapv:UnspecifiedMatching MONDO:0958037 developmental dysplasia of the hip 3 skos:exactMatch UMLS:C5882750 semapv:UnspecifiedMatching MONDO:0958071 Hao-Fountain syndrome due to USP7 mutation skos:exactMatch MEDGEN:1853151 semapv:UnspecifiedMatching MONDO:0958071 Hao-Fountain syndrome due to USP7 mutation skos:exactMatch OMIM:616863 hao-fountain syndrome semapv:UnspecifiedMatching MONDO:0958071 Hao-Fountain syndrome due to USP7 mutation skos:exactMatch Orphanet:643538 Hao-Fountain syndrome due to USP7 mutation semapv:UnspecifiedMatching MONDO:0958071 Hao-Fountain syndrome due to USP7 mutation skos:exactMatch UMLS:C5816734 semapv:UnspecifiedMatching MONDO:0958075 intramedullary non-dysraphic spinal cord lipoma skos:exactMatch MEDGEN:1853179 semapv:UnspecifiedMatching MONDO:0958075 intramedullary non-dysraphic spinal cord lipoma skos:exactMatch Orphanet:645359 Intramedullary non-dysraphic spinal cord lipoma semapv:UnspecifiedMatching MONDO:0958075 intramedullary non-dysraphic spinal cord lipoma skos:exactMatch UMLS:C5816716 semapv:UnspecifiedMatching MONDO:0958076 myeloschisis skos:exactMatch MEDGEN:539965 semapv:UnspecifiedMatching MONDO:0958076 myeloschisis skos:exactMatch Orphanet:645398 Myeloschisis semapv:UnspecifiedMatching MONDO:0958076 myeloschisis skos:exactMatch UMLS:C0266507 semapv:UnspecifiedMatching MONDO:0958076 myeloschisis skos:exactMatch icd11.foundation:1547705800 Myeloschisis semapv:UnspecifiedMatching MONDO:0958077 collagen 6-related congenital muscular dystrophy skos:exactMatch MEDGEN:1864182 semapv:UnspecifiedMatching MONDO:0958077 collagen 6-related congenital muscular dystrophy skos:exactMatch Orphanet:646098 Collagen VI-related congenital muscular dystrophy semapv:UnspecifiedMatching MONDO:0958077 collagen 6-related congenital muscular dystrophy skos:exactMatch UMLS:C5816703 semapv:UnspecifiedMatching MONDO:0958083 conjoined twins skos:exactMatch ICD10CM:Q89.4 Conjoined twins semapv:UnspecifiedMatching MONDO:0958083 conjoined twins skos:exactMatch MEDGEN:52901 semapv:UnspecifiedMatching MONDO:0958083 conjoined twins skos:exactMatch Orphanet:647916 Conjoined twins semapv:UnspecifiedMatching MONDO:0958083 conjoined twins skos:exactMatch UMLS:C0041428 semapv:UnspecifiedMatching MONDO:0958083 conjoined twins skos:exactMatch icd11.foundation:1550169484 Conjoined twins semapv:UnspecifiedMatching MONDO:0958085 digenic hemochromatosis skos:exactMatch MEDGEN:1853200 semapv:UnspecifiedMatching MONDO:0958085 digenic hemochromatosis skos:exactMatch Orphanet:648581 Digenic hemochromatosis semapv:UnspecifiedMatching MONDO:0958085 digenic hemochromatosis skos:exactMatch UMLS:C5816744 semapv:UnspecifiedMatching MONDO:0958091 cleft palate-congenital heart defect-intellectual disability syndrome skos:exactMatch MEDGEN:1859712 semapv:UnspecifiedMatching MONDO:0958091 cleft palate-congenital heart defect-intellectual disability syndrome skos:exactMatch Orphanet:652519 Cleft palate-congenital heart defect-intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0958091 cleft palate-congenital heart defect-intellectual disability syndrome skos:exactMatch UMLS:C5924219 semapv:UnspecifiedMatching MONDO:0958093 non-syndromic supernumerary kidneys skos:exactMatch MEDGEN:1864142 semapv:UnspecifiedMatching MONDO:0958093 non-syndromic supernumerary kidneys skos:exactMatch Orphanet:652528 Non-syndromic supernumerary kidneys semapv:UnspecifiedMatching MONDO:0958093 non-syndromic supernumerary kidneys skos:exactMatch UMLS:C5925122 semapv:UnspecifiedMatching MONDO:0958094 adult-onset progressive leukoencephalopathy-early-onset deafness skos:exactMatch MEDGEN:1859137 semapv:UnspecifiedMatching MONDO:0958094 adult-onset progressive leukoencephalopathy-early-onset deafness skos:exactMatch Orphanet:652532 Adult-onset progressive leukoencephalopathy-early-onset deafness semapv:UnspecifiedMatching MONDO:0958094 adult-onset progressive leukoencephalopathy-early-onset deafness skos:exactMatch UMLS:C5921954 semapv:UnspecifiedMatching MONDO:0958095 Nodal T-follicular helper cell lymphoma, follicular type skos:exactMatch MEDGEN:398050 semapv:UnspecifiedMatching MONDO:0958095 Nodal T-follicular helper cell lymphoma, follicular type skos:exactMatch NCIT:C80375 Follicular Helper T-Cell Lymphoma, Follicular-Type semapv:UnspecifiedMatching MONDO:0958095 Nodal T-follicular helper cell lymphoma, follicular type skos:exactMatch Orphanet:652650 Nodal T-follicular helper cell lymphoma, follicular type semapv:UnspecifiedMatching MONDO:0958095 Nodal T-follicular helper cell lymphoma, follicular type skos:exactMatch UMLS:C2700204 semapv:UnspecifiedMatching MONDO:0958096 monomorphic epitheliotropic intestinal T-cell lymphoma skos:exactMatch MEDGEN:474158 semapv:UnspecifiedMatching MONDO:0958096 monomorphic epitheliotropic intestinal T-cell lymphoma skos:exactMatch NCIT:C96058 Monomorphic Epitheliotropic Intestinal T-Cell Lymphoma semapv:UnspecifiedMatching MONDO:0958096 monomorphic epitheliotropic intestinal T-cell lymphoma skos:exactMatch Orphanet:652658 Monomorphic epitheliotropic intestinal T-cell lymphoma semapv:UnspecifiedMatching MONDO:0958096 monomorphic epitheliotropic intestinal T-cell lymphoma skos:exactMatch UMLS:C3272525 semapv:UnspecifiedMatching MONDO:0958097 primary superior vena cava aneurysm skos:exactMatch MEDGEN:1863724 semapv:UnspecifiedMatching MONDO:0958097 primary superior vena cava aneurysm skos:exactMatch Orphanet:652668 Primary superior vena cava aneurysm semapv:UnspecifiedMatching MONDO:0958097 primary superior vena cava aneurysm skos:exactMatch UMLS:C5925121 semapv:UnspecifiedMatching MONDO:0958098 primary inferior vena cava aneurysm skos:exactMatch MEDGEN:1863758 semapv:UnspecifiedMatching MONDO:0958098 primary inferior vena cava aneurysm skos:exactMatch Orphanet:652678 Primary inferior vena cava aneurysm semapv:UnspecifiedMatching MONDO:0958098 primary inferior vena cava aneurysm skos:exactMatch UMLS:C5925120 semapv:UnspecifiedMatching MONDO:0958099 idiopathic subglottic stenosis skos:exactMatch MEDGEN:1864137 semapv:UnspecifiedMatching MONDO:0958099 idiopathic subglottic stenosis skos:exactMatch Orphanet:652681 Idiopathic subglottic stenosis semapv:UnspecifiedMatching MONDO:0958099 idiopathic subglottic stenosis skos:exactMatch UMLS:C5925119 semapv:UnspecifiedMatching MONDO:0958101 lymphocytic mastitis skos:exactMatch Orphanet:653698 Lymphocytic mastitis semapv:UnspecifiedMatching MONDO:0958104 digenic Alport syndrome skos:exactMatch MEDGEN:1863937 semapv:UnspecifiedMatching MONDO:0958104 digenic Alport syndrome skos:exactMatch Orphanet:653722 Digenic Alport syndrome semapv:UnspecifiedMatching MONDO:0958104 digenic Alport syndrome skos:exactMatch UMLS:C5925113 semapv:UnspecifiedMatching MONDO:0958106 congenital insensitivity to pain syndrome, Marsili type skos:exactMatch DOID:0081075 Marsili syndrome semapv:UnspecifiedMatching MONDO:0958106 congenital insensitivity to pain syndrome, Marsili type skos:exactMatch OMIM:147430 marsili syndrome semapv:UnspecifiedMatching MONDO:0958106 congenital insensitivity to pain syndrome, Marsili type skos:exactMatch Orphanet:653728 Congenital insensitivity to pain syndrome, Marsili type semapv:UnspecifiedMatching MONDO:0958106 congenital insensitivity to pain syndrome, Marsili type skos:exactMatch mesh:C564128 semapv:UnspecifiedMatching MONDO:0958110 atrophic papulosis skos:exactMatch Orphanet:656071 Atrophic papulosis semapv:UnspecifiedMatching MONDO:0958115 autosomal recessive combined immunodeficiency due to complete IL6ST deficiency skos:exactMatch MEDGEN:1864006 semapv:UnspecifiedMatching MONDO:0958115 autosomal recessive combined immunodeficiency due to complete IL6ST deficiency skos:exactMatch Orphanet:656283 Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency semapv:UnspecifiedMatching MONDO:0958115 autosomal recessive combined immunodeficiency due to complete IL6ST deficiency skos:exactMatch UMLS:C5925103 semapv:UnspecifiedMatching MONDO:0958116 autosomal recessive combined immunodeficiency due to partial IL6ST deficiency skos:exactMatch MEDGEN:1863929 semapv:UnspecifiedMatching MONDO:0958116 autosomal recessive combined immunodeficiency due to partial IL6ST deficiency skos:exactMatch Orphanet:656300 Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency semapv:UnspecifiedMatching MONDO:0958116 autosomal recessive combined immunodeficiency due to partial IL6ST deficiency skos:exactMatch UMLS:C5925106 semapv:UnspecifiedMatching MONDO:0958117 autosomal dominant combined immunodeficiency due to partial IL6ST deficiency skos:exactMatch MEDGEN:1863566 semapv:UnspecifiedMatching MONDO:0958117 autosomal dominant combined immunodeficiency due to partial IL6ST deficiency skos:exactMatch Orphanet:656313 Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency semapv:UnspecifiedMatching MONDO:0958117 autosomal dominant combined immunodeficiency due to partial IL6ST deficiency skos:exactMatch UMLS:C5925105 semapv:UnspecifiedMatching MONDO:0958118 autosomal recessive combined immunodeficiency due to IL6R deficiency skos:exactMatch MEDGEN:1863760 semapv:UnspecifiedMatching MONDO:0958118 autosomal recessive combined immunodeficiency due to IL6R deficiency skos:exactMatch Orphanet:656326 Autosomal recessive combined immunodeficiency due to IL6R deficiency semapv:UnspecifiedMatching MONDO:0958118 autosomal recessive combined immunodeficiency due to IL6R deficiency skos:exactMatch UMLS:C5925112 semapv:UnspecifiedMatching MONDO:0958119 embryonal tumor with multilayered rosettes skos:exactMatch MEDGEN:1804732 semapv:UnspecifiedMatching MONDO:0958119 embryonal tumor with multilayered rosettes skos:exactMatch NCIT:C186534 Embryonal Tumor with Multilayered Rosettes semapv:UnspecifiedMatching MONDO:0958119 embryonal tumor with multilayered rosettes skos:exactMatch Orphanet:656417 Embryonal tumor with multilayered rosettes semapv:UnspecifiedMatching MONDO:0958119 embryonal tumor with multilayered rosettes skos:exactMatch UMLS:C5575350 semapv:UnspecifiedMatching MONDO:0958120 autosomal dominant combined immunodeficiency due to ERBIN deficiency skos:exactMatch MEDGEN:1863785 semapv:UnspecifiedMatching MONDO:0958120 autosomal dominant combined immunodeficiency due to ERBIN deficiency skos:exactMatch Orphanet:656912 Autosomal dominant combined immunodeficiency due to ERBIN deficiency semapv:UnspecifiedMatching MONDO:0958120 autosomal dominant combined immunodeficiency due to ERBIN deficiency skos:exactMatch UMLS:C5925110 semapv:UnspecifiedMatching MONDO:0958122 idiopathic small fibers neuropathy skos:exactMatch MEDGEN:1863834 semapv:UnspecifiedMatching MONDO:0958122 idiopathic small fibers neuropathy skos:exactMatch Orphanet:658549 Idiopathic small fibers neuropathy semapv:UnspecifiedMatching MONDO:0958122 idiopathic small fibers neuropathy skos:exactMatch UMLS:C5925111 semapv:UnspecifiedMatching MONDO:0958123 isolated pulmonary artery sling skos:exactMatch Orphanet:658574 Isolated pulmonary artery sling semapv:UnspecifiedMatching MONDO:0958127 transplant-related bronchiolitis obliterans skos:exactMatch MEDGEN:1808244 semapv:UnspecifiedMatching MONDO:0958127 transplant-related bronchiolitis obliterans skos:exactMatch Orphanet:658602 Transplant-related bronchiolitis obliterans semapv:UnspecifiedMatching MONDO:0958127 transplant-related bronchiolitis obliterans skos:exactMatch UMLS:C5574736 semapv:UnspecifiedMatching MONDO:0958128 non-transplant-related bronchiolitis obliterans skos:exactMatch MEDGEN:1863569 semapv:UnspecifiedMatching MONDO:0958128 non-transplant-related bronchiolitis obliterans skos:exactMatch Orphanet:658612 Non-transplant-related bronchiolitis obliterans semapv:UnspecifiedMatching MONDO:0958128 non-transplant-related bronchiolitis obliterans skos:exactMatch UMLS:C5925142 semapv:UnspecifiedMatching MONDO:0958129 COQ7-related distal hereditary motor neuropathy skos:exactMatch MEDGEN:1863922 semapv:UnspecifiedMatching MONDO:0958129 COQ7-related distal hereditary motor neuropathy skos:exactMatch Orphanet:658778 COQ7-related distal hereditary motor neuropathy semapv:UnspecifiedMatching MONDO:0958129 COQ7-related distal hereditary motor neuropathy skos:exactMatch UMLS:C5925143 semapv:UnspecifiedMatching MONDO:0958130 Greig cephalopolysyndactyly-contiguous gene syndrome skos:exactMatch MEDGEN:1864335 semapv:UnspecifiedMatching MONDO:0958130 Greig cephalopolysyndactyly-contiguous gene syndrome skos:exactMatch Orphanet:658805 Greig cephalopolysyndactyly-contiguous gene syndrome semapv:UnspecifiedMatching MONDO:0958130 Greig cephalopolysyndactyly-contiguous gene syndrome skos:exactMatch UMLS:C5925145 semapv:UnspecifiedMatching MONDO:0958137 early-onset autoimmune disorder due to DOCK11 partial deficiency skos:exactMatch MEDGEN:1864045 semapv:UnspecifiedMatching MONDO:0958137 early-onset autoimmune disorder due to DOCK11 partial deficiency skos:exactMatch Orphanet:658946 Early-onset immune dysregulation with autoimmunity due to DOCK11 partial deficiency semapv:UnspecifiedMatching MONDO:0958137 early-onset autoimmune disorder due to DOCK11 partial deficiency skos:exactMatch UMLS:C5925146 semapv:UnspecifiedMatching MONDO:0958138 early-onset immune dysregulation due to DOCK11 complete deficiency skos:exactMatch MEDGEN:1864413 semapv:UnspecifiedMatching MONDO:0958138 early-onset immune dysregulation due to DOCK11 complete deficiency skos:exactMatch Orphanet:658951 Early-onset immune dysregulation due to DOCK11 complete deficiency semapv:UnspecifiedMatching MONDO:0958138 early-onset immune dysregulation due to DOCK11 complete deficiency skos:exactMatch UMLS:C5925136 semapv:UnspecifiedMatching MONDO:0958150 Borrelia miyamotoi disease skos:exactMatch DOID:0070527 Borrelia miyamotoi disease semapv:UnspecifiedMatching MONDO:0958151 cepacia syndrome skos:exactMatch DOID:0070528 cepacia syndrome semapv:UnspecifiedMatching MONDO:0958159 sarcoma with BCOR genetic alterations skos:exactMatch DOID:0081402 sarcoma with BCOR genetic alterations semapv:UnspecifiedMatching MONDO:0958159 sarcoma with BCOR genetic alterations skos:exactMatch MEDGEN:1791498 semapv:UnspecifiedMatching MONDO:0958159 sarcoma with BCOR genetic alterations skos:exactMatch NCIT:C178465 Sarcoma with BCOR Genetic Alterations semapv:UnspecifiedMatching MONDO:0958159 sarcoma with BCOR genetic alterations skos:exactMatch UMLS:C5555057 semapv:UnspecifiedMatching MONDO:0958160 round cell sarcoma with EWSR1-non-ETS fusion skos:exactMatch DOID:0081406 round cell sarcoma with EWSR1-non-ETS fusion semapv:UnspecifiedMatching MONDO:0958160 round cell sarcoma with EWSR1-non-ETS fusion skos:exactMatch MEDGEN:1790023 semapv:UnspecifiedMatching MONDO:0958160 round cell sarcoma with EWSR1-non-ETS fusion skos:exactMatch NCIT:C178459 Round Cell Sarcoma with EWSR1-non-ETS Fusion semapv:UnspecifiedMatching MONDO:0958160 round cell sarcoma with EWSR1-non-ETS fusion skos:exactMatch UMLS:C4727985 semapv:UnspecifiedMatching MONDO:0958161 B acute lymphoblastic leukemia with PAX5 P80R mutation skos:exactMatch DOID:0081411 B-lymphoblastic leukemia with PAX5 p.P80R semapv:UnspecifiedMatching MONDO:0958161 B acute lymphoblastic leukemia with PAX5 P80R mutation skos:exactMatch MEDGEN:1846082 semapv:UnspecifiedMatching MONDO:0958161 B acute lymphoblastic leukemia with PAX5 P80R mutation skos:exactMatch NCIT:C199260 B Acute Lymphoblastic Leukemia with PAX5 P80R Mutation semapv:UnspecifiedMatching MONDO:0958161 B acute lymphoblastic leukemia with PAX5 P80R mutation skos:exactMatch UMLS:C5855498 semapv:UnspecifiedMatching MONDO:0958162 B acute lymphoblastic leukemia with DUX4 rearrangement skos:exactMatch DOID:0081412 B-lymphoblastic leukemia with DUX4 rearrangement semapv:UnspecifiedMatching MONDO:0958162 B acute lymphoblastic leukemia with DUX4 rearrangement skos:exactMatch MEDGEN:1848969 semapv:UnspecifiedMatching MONDO:0958162 B acute lymphoblastic leukemia with DUX4 rearrangement skos:exactMatch NCIT:C199232 B Acute Lymphoblastic Leukemia with DUX4 Rearrangement semapv:UnspecifiedMatching MONDO:0958162 B acute lymphoblastic leukemia with DUX4 rearrangement skos:exactMatch UMLS:C5855478 semapv:UnspecifiedMatching MONDO:0958164 poorly differentiated chordoma skos:exactMatch DOID:0081417 poorly differentiated chordoma semapv:UnspecifiedMatching MONDO:0958164 poorly differentiated chordoma skos:exactMatch MEDGEN:1791171 semapv:UnspecifiedMatching MONDO:0958164 poorly differentiated chordoma skos:exactMatch NCIT:C177898 Poorly Differentiated Chordoma semapv:UnspecifiedMatching MONDO:0958164 poorly differentiated chordoma skos:exactMatch UMLS:C5554730 semapv:UnspecifiedMatching MONDO:0958165 anaplastic sarcoma of the kidney skos:exactMatch DOID:0081418 anaplastic sarcoma of the kidney semapv:UnspecifiedMatching MONDO:0958165 anaplastic sarcoma of the kidney skos:exactMatch MEDGEN:1661979 semapv:UnspecifiedMatching MONDO:0958165 anaplastic sarcoma of the kidney skos:exactMatch NCIT:C154496 Anaplastic Sarcoma of the Kidney semapv:UnspecifiedMatching MONDO:0958165 anaplastic sarcoma of the kidney skos:exactMatch UMLS:C4722276 semapv:UnspecifiedMatching MONDO:0958174 basal cell nevus syndrome 1 skos:exactMatch OMIM:109400 basal cell nevus syndrome 1 semapv:UnspecifiedMatching MONDO:0958175 craniofacial microsomia 1 skos:exactMatch MEDGEN:501171 semapv:UnspecifiedMatching MONDO:0958175 craniofacial microsomia 1 skos:exactMatch OMIM:164210 craniofacial microsomia 1 semapv:UnspecifiedMatching MONDO:0958175 craniofacial microsomia 1 skos:exactMatch UMLS:C3495417 semapv:UnspecifiedMatching MONDO:0958176 oculopharyngeal muscular dystrophy 1 skos:exactMatch NCIT:C84942 Oculopharyngeal Muscular Dystrophy semapv:UnspecifiedMatching MONDO:0958176 oculopharyngeal muscular dystrophy 1 skos:exactMatch OMIM:164300 oculopharyngeal muscular dystrophy 1 semapv:UnspecifiedMatching MONDO:0958177 chronic recurrent multifocal osteomyelitis 3 skos:exactMatch OMIM:259680 chronic recurrent multifocal osteomyelitis 3 semapv:UnspecifiedMatching MONDO:0958178 cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1 skos:exactMatch MEDGEN:1840207 semapv:UnspecifiedMatching MONDO:0958178 cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1 skos:exactMatch OMIM:301108 cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1 semapv:UnspecifiedMatching MONDO:0958178 cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1 skos:exactMatch UMLS:C5829571 semapv:UnspecifiedMatching MONDO:0958179 glycine encephalopathy 1 skos:exactMatch DOID:0070616 glycine encephalopathy 1 semapv:UnspecifiedMatching MONDO:0958179 glycine encephalopathy 1 skos:exactMatch OMIM:605899 glycine encephalopathy 1 semapv:UnspecifiedMatching MONDO:0958180 prolonged electroretinal response suppression 1 skos:exactMatch DOID:0070363 bradyopsia 1 semapv:UnspecifiedMatching MONDO:0958180 prolonged electroretinal response suppression 1 skos:exactMatch MEDGEN:1840510 semapv:UnspecifiedMatching MONDO:0958180 prolonged electroretinal response suppression 1 skos:exactMatch OMIM:608415 prolonged electroretinal response suppression 1 semapv:UnspecifiedMatching MONDO:0958180 prolonged electroretinal response suppression 1 skos:exactMatch UMLS:C5829874 semapv:UnspecifiedMatching MONDO:0958181 mitochondrial trifunctional protein deficiency 1 skos:exactMatch DOID:0070619 mitochondrial trifunctional protein deficiency 1 semapv:UnspecifiedMatching MONDO:0958181 mitochondrial trifunctional protein deficiency 1 skos:exactMatch OMIM:609015 mitochondrial trifunctional protein deficiency 1 semapv:UnspecifiedMatching MONDO:0958182 C1Q deficiency 1 skos:exactMatch OMIM:613652 c1q deficiency 1 semapv:UnspecifiedMatching MONDO:0958183 Leber-like hereditary optic neuropathy, autosomal recessive 1 skos:exactMatch OMIM:619382 leber-like hereditary optic neuropathy, autosomal recessive 1 semapv:UnspecifiedMatching MONDO:0958184 epidermolytic hyperkeratosis 2 skos:exactMatch DOID:0081359 epidermolytic hyperkeratosis 2 semapv:UnspecifiedMatching MONDO:0958185 mitochondrial trifunctional protein deficiency 2 skos:exactMatch DOID:0060999 mitochondrial trifunctional protein deficiency 2 semapv:UnspecifiedMatching MONDO:0958185 mitochondrial trifunctional protein deficiency 2 skos:exactMatch MEDGEN:1841010 semapv:UnspecifiedMatching MONDO:0958185 mitochondrial trifunctional protein deficiency 2 skos:exactMatch OMIM:620300 mitochondrial trifunctional protein deficiency 2 semapv:UnspecifiedMatching MONDO:0958185 mitochondrial trifunctional protein deficiency 2 skos:exactMatch UMLS:C5830374 semapv:UnspecifiedMatching MONDO:0958186 hematuria, benign familial, 2 skos:exactMatch MEDGEN:1841057 semapv:UnspecifiedMatching MONDO:0958186 hematuria, benign familial, 2 skos:exactMatch OMIM:620320 hematuria, benign familial, 2 semapv:UnspecifiedMatching MONDO:0958186 hematuria, benign familial, 2 skos:exactMatch UMLS:C5830421 semapv:UnspecifiedMatching MONDO:0958187 C1Q deficiency 2 skos:exactMatch MEDGEN:1841058 semapv:UnspecifiedMatching MONDO:0958187 C1Q deficiency 2 skos:exactMatch OMIM:620321 c1q deficiency 2 semapv:UnspecifiedMatching MONDO:0958187 C1Q deficiency 2 skos:exactMatch UMLS:C5830422 semapv:UnspecifiedMatching MONDO:0958188 C1Q deficiency 3 skos:exactMatch MEDGEN:1841059 semapv:UnspecifiedMatching MONDO:0958188 C1Q deficiency 3 skos:exactMatch OMIM:620322 c1q deficiency 3 semapv:UnspecifiedMatching MONDO:0958188 C1Q deficiency 3 skos:exactMatch UMLS:C5830423 semapv:UnspecifiedMatching MONDO:0958189 basal cell nevus syndrome 2 skos:exactMatch DOID:0070366 nevoid basal cell carcinoma syndrome 2 semapv:UnspecifiedMatching MONDO:0958189 basal cell nevus syndrome 2 skos:exactMatch MEDGEN:1841087 semapv:UnspecifiedMatching MONDO:0958189 basal cell nevus syndrome 2 skos:exactMatch OMIM:620343 basal cell nevus syndrome 2 semapv:UnspecifiedMatching MONDO:0958189 basal cell nevus syndrome 2 skos:exactMatch UMLS:C5830451 semapv:UnspecifiedMatching MONDO:0958190 prolonged electroretinal response suppression 2 skos:exactMatch DOID:0070364 bradyopsia 2 semapv:UnspecifiedMatching MONDO:0958190 prolonged electroretinal response suppression 2 skos:exactMatch MEDGEN:1841088 semapv:UnspecifiedMatching MONDO:0958190 prolonged electroretinal response suppression 2 skos:exactMatch OMIM:620344 prolonged electroretinal response suppression 2 semapv:UnspecifiedMatching MONDO:0958190 prolonged electroretinal response suppression 2 skos:exactMatch UMLS:C5830452 semapv:UnspecifiedMatching MONDO:0958191 nephrolithiasis, calcium oxalate, 2, with or without nephrocalcinosis skos:exactMatch MEDGEN:1841152 semapv:UnspecifiedMatching MONDO:0958191 nephrolithiasis, calcium oxalate, 2, with or without nephrocalcinosis skos:exactMatch OMIM:620374 nephrolithiasis, calcium oxalate, 2, with or without nephrocalcinosis semapv:UnspecifiedMatching MONDO:0958191 nephrolithiasis, calcium oxalate, 2, with or without nephrocalcinosis skos:exactMatch UMLS:C5830516 semapv:UnspecifiedMatching MONDO:0958192 glycine encephalopathy 2 skos:exactMatch DOID:0061001 glycine encephalopathy 2 semapv:UnspecifiedMatching MONDO:0958192 glycine encephalopathy 2 skos:exactMatch MEDGEN:1841195 semapv:UnspecifiedMatching MONDO:0958192 glycine encephalopathy 2 skos:exactMatch OMIM:620398 glycine encephalopathy 2 semapv:UnspecifiedMatching MONDO:0958192 glycine encephalopathy 2 skos:exactMatch UMLS:C5830559 semapv:UnspecifiedMatching MONDO:0958193 cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2 skos:exactMatch MEDGEN:1841226 semapv:UnspecifiedMatching MONDO:0958193 cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2 skos:exactMatch OMIM:620425 cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2 semapv:UnspecifiedMatching MONDO:0958193 cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2 skos:exactMatch UMLS:C5830590 semapv:UnspecifiedMatching MONDO:0958194 craniofacial microsomia 2 skos:exactMatch MEDGEN:1830923 semapv:UnspecifiedMatching MONDO:0958194 craniofacial microsomia 2 skos:exactMatch OMIM:620444 craniofacial microsomia 2 semapv:UnspecifiedMatching MONDO:0958194 craniofacial microsomia 2 skos:exactMatch UMLS:C5781610 semapv:UnspecifiedMatching MONDO:0958195 oculopharyngeal muscular dystrophy 2 skos:exactMatch MEDGEN:1841318 semapv:UnspecifiedMatching MONDO:0958195 oculopharyngeal muscular dystrophy 2 skos:exactMatch OMIM:620460 oculopharyngeal muscular dystrophy 2 semapv:UnspecifiedMatching MONDO:0958195 oculopharyngeal muscular dystrophy 2 skos:exactMatch UMLS:C5830682 semapv:UnspecifiedMatching MONDO:0958196 epilepsy, early-onset, 3, with or without developmental delay skos:exactMatch DOID:0070472 early-onset epilepsy 3 semapv:UnspecifiedMatching MONDO:0958196 epilepsy, early-onset, 3, with or without developmental delay skos:exactMatch MEDGEN:1847911 semapv:UnspecifiedMatching MONDO:0958196 epilepsy, early-onset, 3, with or without developmental delay skos:exactMatch OMIM:620465 epilepsy, early-onset, 3, with or without developmental delay semapv:UnspecifiedMatching MONDO:0958196 epilepsy, early-onset, 3, with or without developmental delay skos:exactMatch UMLS:C5882674 semapv:UnspecifiedMatching MONDO:0958197 Leber-like hereditary optic neuropathy, autosomal recessive 2 skos:exactMatch MEDGEN:1845294 semapv:UnspecifiedMatching MONDO:0958197 Leber-like hereditary optic neuropathy, autosomal recessive 2 skos:exactMatch OMIM:620569 leber-like hereditary optic neuropathy, autosomal recessive 2 semapv:UnspecifiedMatching MONDO:0958197 Leber-like hereditary optic neuropathy, autosomal recessive 2 skos:exactMatch UMLS:C5882713 semapv:UnspecifiedMatching MONDO:0958199 myoclonic epilepsy of Lafora 1 skos:exactMatch DOID:0070660 Lafora disease 1 semapv:UnspecifiedMatching MONDO:0958199 myoclonic epilepsy of Lafora 1 skos:exactMatch OMIM:254780 myoclonic epilepsy of lafora 1 semapv:UnspecifiedMatching MONDO:0958200 intellectual developmental disorder, X-linked 113 skos:exactMatch MEDGEN:1852264 semapv:UnspecifiedMatching MONDO:0958200 intellectual developmental disorder, X-linked 113 skos:exactMatch OMIM:301116 intellectual developmental disorder, X-linked 113 semapv:UnspecifiedMatching MONDO:0958200 intellectual developmental disorder, X-linked 113 skos:exactMatch UMLS:C5882666 semapv:UnspecifiedMatching MONDO:0958202 moyamoya disease 7 skos:exactMatch MEDGEN:1851566 semapv:UnspecifiedMatching MONDO:0958202 moyamoya disease 7 skos:exactMatch OMIM:620687 moyamoya disease 7 semapv:UnspecifiedMatching MONDO:0958202 moyamoya disease 7 skos:exactMatch UMLS:C5882748 semapv:UnspecifiedMatching MONDO:0958203 intellectual developmental disorder, autosomal dominant 74 skos:exactMatch DOID:0061047 autosomal dominant intellectual developmental disorder 74 semapv:UnspecifiedMatching MONDO:0958203 intellectual developmental disorder, autosomal dominant 74 skos:exactMatch MEDGEN:1845603 semapv:UnspecifiedMatching MONDO:0958203 intellectual developmental disorder, autosomal dominant 74 skos:exactMatch OMIM:620688 intellectual developmental disorder, autosomal dominant 74 semapv:UnspecifiedMatching MONDO:0958203 intellectual developmental disorder, autosomal dominant 74 skos:exactMatch UMLS:C5882749 semapv:UnspecifiedMatching MONDO:0958204 intellectual developmental disorder, autosomal recessive 81 skos:exactMatch MEDGEN:1844192 semapv:UnspecifiedMatching MONDO:0958204 intellectual developmental disorder, autosomal recessive 81 skos:exactMatch OMIM:620700 intellectual developmental disorder, autosomal recessive 81 semapv:UnspecifiedMatching MONDO:0958204 intellectual developmental disorder, autosomal recessive 81 skos:exactMatch UMLS:C5882758 semapv:UnspecifiedMatching MONDO:0958205 Yuksel-Vogel-Bauer syndrome skos:exactMatch MEDGEN:1847314 semapv:UnspecifiedMatching MONDO:0958205 Yuksel-Vogel-Bauer syndrome skos:exactMatch OMIM:620703 yuksel-vogel-bauer syndrome semapv:UnspecifiedMatching MONDO:0958205 Yuksel-Vogel-Bauer syndrome skos:exactMatch UMLS:C5882751 semapv:UnspecifiedMatching MONDO:0958206 spermatogenic failure 89 skos:exactMatch DOID:0070588 spermatogenic failure 89 semapv:UnspecifiedMatching MONDO:0958206 spermatogenic failure 89 skos:exactMatch MEDGEN:1852501 semapv:UnspecifiedMatching MONDO:0958206 spermatogenic failure 89 skos:exactMatch OMIM:620705 spermatogenic failure 89 semapv:UnspecifiedMatching MONDO:0958206 spermatogenic failure 89 skos:exactMatch UMLS:C5882752 semapv:UnspecifiedMatching MONDO:0958224 encephalopathy, porphyria-related skos:exactMatch MEDGEN:1859316 semapv:UnspecifiedMatching MONDO:0958224 encephalopathy, porphyria-related skos:exactMatch OMIM:620704 encephalopathy, porphyria-related semapv:UnspecifiedMatching MONDO:0958224 encephalopathy, porphyria-related skos:exactMatch UMLS:C5935574 semapv:UnspecifiedMatching MONDO:0958226 leukoencephalopathy, porphyria-related skos:exactMatch MEDGEN:1862491 semapv:UnspecifiedMatching MONDO:0958226 leukoencephalopathy, porphyria-related skos:exactMatch OMIM:620711 leukoencephalopathy, porphyria-related semapv:UnspecifiedMatching MONDO:0958226 leukoencephalopathy, porphyria-related skos:exactMatch UMLS:C5935575 semapv:UnspecifiedMatching MONDO:0958227 polydactyly-macrocephaly syndrome skos:exactMatch MEDGEN:1847761 semapv:UnspecifiedMatching MONDO:0958227 polydactyly-macrocephaly syndrome skos:exactMatch OMIM:620712 polydactyly-macrocephaly syndrome semapv:UnspecifiedMatching MONDO:0958227 polydactyly-macrocephaly syndrome skos:exactMatch UMLS:C5882754 semapv:UnspecifiedMatching MONDO:0958228 hearing loss, autosomal recessive 122 skos:exactMatch MEDGEN:1853544 semapv:UnspecifiedMatching MONDO:0958228 hearing loss, autosomal recessive 122 skos:exactMatch OMIM:620714 deafness, autosomal recessive 122 semapv:UnspecifiedMatching MONDO:0958228 hearing loss, autosomal recessive 122 skos:exactMatch UMLS:C5935576 semapv:UnspecifiedMatching MONDO:0958229 bleeding disorder, vascular-type skos:exactMatch MEDGEN:1853829 semapv:UnspecifiedMatching MONDO:0958229 bleeding disorder, vascular-type skos:exactMatch OMIM:620715 bleeding disorder, vascular-type semapv:UnspecifiedMatching MONDO:0958229 bleeding disorder, vascular-type skos:exactMatch UMLS:C5935577 semapv:UnspecifiedMatching MONDO:0958230 orofaciodigital syndrome 20 skos:exactMatch DOID:0060962 orofaciodigital syndrome XX semapv:UnspecifiedMatching MONDO:0958230 orofaciodigital syndrome 20 skos:exactMatch MEDGEN:1854813 semapv:UnspecifiedMatching MONDO:0958230 orofaciodigital syndrome 20 skos:exactMatch OMIM:620718 orofaciodigital syndrome 20 semapv:UnspecifiedMatching MONDO:0958230 orofaciodigital syndrome 20 skos:exactMatch UMLS:C5935578 semapv:UnspecifiedMatching MONDO:0958231 neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism skos:exactMatch OMIM:620719 neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism semapv:UnspecifiedMatching MONDO:0958231 neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism skos:exactMatch Orphanet:589515 PUM1-associated developmental disability-ataxia-seizure syndrome semapv:UnspecifiedMatching MONDO:0958232 hearing loss, autosomal dominant 90 skos:exactMatch DOID:0070607 autosomal dominant nonsyndromic deafness 90 semapv:UnspecifiedMatching MONDO:0958232 hearing loss, autosomal dominant 90 skos:exactMatch MEDGEN:1855139 semapv:UnspecifiedMatching MONDO:0958232 hearing loss, autosomal dominant 90 skos:exactMatch OMIM:620722 deafness, autosomal dominant 90 semapv:UnspecifiedMatching MONDO:0958232 hearing loss, autosomal dominant 90 skos:exactMatch UMLS:C5935579 semapv:UnspecifiedMatching MONDO:0958233 Bethlem myopathy 1B skos:exactMatch DOID:0061199 Bethlem myopathy 1B semapv:UnspecifiedMatching MONDO:0958233 Bethlem myopathy 1B skos:exactMatch MEDGEN:1859128 semapv:UnspecifiedMatching MONDO:0958233 Bethlem myopathy 1B skos:exactMatch OMIM:620725 bethlem myopathy 1b semapv:UnspecifiedMatching MONDO:0958233 Bethlem myopathy 1B skos:exactMatch UMLS:C5935580 semapv:UnspecifiedMatching MONDO:0958234 Bethlem myopathy 1C skos:exactMatch DOID:0061200 Bethlem myopathy 1C semapv:UnspecifiedMatching MONDO:0958234 Bethlem myopathy 1C skos:exactMatch MEDGEN:1854240 semapv:UnspecifiedMatching MONDO:0958234 Bethlem myopathy 1C skos:exactMatch OMIM:620726 bethlem myopathy 1c semapv:UnspecifiedMatching MONDO:0958234 Bethlem myopathy 1C skos:exactMatch UMLS:C5935581 semapv:UnspecifiedMatching MONDO:0958235 Ullrich congenital muscular dystrophy 1B skos:exactMatch DOID:0060942 Ullrich congenital muscular dystrophy 1B semapv:UnspecifiedMatching MONDO:0958235 Ullrich congenital muscular dystrophy 1B skos:exactMatch MEDGEN:1859300 semapv:UnspecifiedMatching MONDO:0958235 Ullrich congenital muscular dystrophy 1B skos:exactMatch OMIM:620727 ullrich congenital muscular dystrophy 1b semapv:UnspecifiedMatching MONDO:0958235 Ullrich congenital muscular dystrophy 1B skos:exactMatch UMLS:C5935582 semapv:UnspecifiedMatching MONDO:0958236 Ullrich congenital muscular dystrophy 1C skos:exactMatch DOID:0060943 Ullrich congenital muscular dystrophy 1C semapv:UnspecifiedMatching MONDO:0958236 Ullrich congenital muscular dystrophy 1C skos:exactMatch MEDGEN:1862699 semapv:UnspecifiedMatching MONDO:0958236 Ullrich congenital muscular dystrophy 1C skos:exactMatch OMIM:620728 ullrich congenital muscular dystrophy 1c semapv:UnspecifiedMatching MONDO:0958236 Ullrich congenital muscular dystrophy 1C skos:exactMatch UMLS:C5935583 semapv:UnspecifiedMatching MONDO:0958237 isolated hyperferritinemia skos:exactMatch MEDGEN:892475 semapv:UnspecifiedMatching MONDO:0958237 isolated hyperferritinemia skos:exactMatch OMIM:620729 hyperferritinemia semapv:UnspecifiedMatching MONDO:0958237 isolated hyperferritinemia skos:exactMatch UMLS:C3854388 semapv:UnspecifiedMatching MONDO:0958238 hyperemesis gravidarum, susceptibility to skos:exactMatch MEDGEN:1857498 semapv:UnspecifiedMatching MONDO:0958238 hyperemesis gravidarum, susceptibility to skos:exactMatch OMIM:620730 hyperemesis gravidarum, susceptibility to semapv:UnspecifiedMatching MONDO:0958238 hyperemesis gravidarum, susceptibility to skos:exactMatch UMLS:C5889860 semapv:UnspecifiedMatching MONDO:0958239 microphthalmia/coloboma 11 skos:exactMatch MEDGEN:1856733 semapv:UnspecifiedMatching MONDO:0958239 microphthalmia/coloboma 11 skos:exactMatch OMIM:620731 microphthalmia/coloboma 11 semapv:UnspecifiedMatching MONDO:0958239 microphthalmia/coloboma 11 skos:exactMatch UMLS:C5935584 semapv:UnspecifiedMatching MONDO:0958240 neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalities skos:exactMatch MEDGEN:1863149 semapv:UnspecifiedMatching MONDO:0958240 neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalities skos:exactMatch OMIM:620732 neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalities semapv:UnspecifiedMatching MONDO:0958240 neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalities skos:exactMatch UMLS:C5935585 semapv:UnspecifiedMatching MONDO:0958241 cardiomyopathy, familial hypertrophic, 30, atrial skos:exactMatch MEDGEN:1858408 semapv:UnspecifiedMatching MONDO:0958241 cardiomyopathy, familial hypertrophic, 30, atrial skos:exactMatch OMIM:620734 cardiomyopathy, familial hypertrophic, 30, atrial semapv:UnspecifiedMatching MONDO:0958241 cardiomyopathy, familial hypertrophic, 30, atrial skos:exactMatch UMLS:C5935586 semapv:UnspecifiedMatching MONDO:0958242 spermatogenic failure 90 skos:exactMatch DOID:0070589 spermatogenic failure 90 semapv:UnspecifiedMatching MONDO:0958242 spermatogenic failure 90 skos:exactMatch MEDGEN:1853928 semapv:UnspecifiedMatching MONDO:0958242 spermatogenic failure 90 skos:exactMatch OMIM:620744 spermatogenic failure 90 semapv:UnspecifiedMatching MONDO:0958242 spermatogenic failure 90 skos:exactMatch UMLS:C5935587 semapv:UnspecifiedMatching MONDO:0958256 pyoderma gangrenosum-acne-hidradenitis suppurativa-ankylosing spondylitis syndrome skos:exactMatch MEDGEN:1853171 semapv:UnspecifiedMatching MONDO:0958256 pyoderma gangrenosum-acne-hidradenitis suppurativa-ankylosing spondylitis syndrome skos:exactMatch Orphanet:641385 PASS syndrome semapv:UnspecifiedMatching MONDO:0958256 pyoderma gangrenosum-acne-hidradenitis suppurativa-ankylosing spondylitis syndrome skos:exactMatch UMLS:C5816788 semapv:UnspecifiedMatching MONDO:0958257 psoriatic arthritis-pyoderma gangrenosum-acne-hidradenitis suppurativa syndrome skos:exactMatch MEDGEN:1853239 semapv:UnspecifiedMatching MONDO:0958257 psoriatic arthritis-pyoderma gangrenosum-acne-hidradenitis suppurativa syndrome skos:exactMatch Orphanet:641390 PsAPASH syndrome semapv:UnspecifiedMatching MONDO:0958257 psoriatic arthritis-pyoderma gangrenosum-acne-hidradenitis suppurativa syndrome skos:exactMatch UMLS:C5816786 semapv:UnspecifiedMatching MONDO:0958258 Cushing syndrome due to cortisol-producing adrenocortical adenoma skos:exactMatch MEDGEN:1853161 semapv:UnspecifiedMatching MONDO:0958258 Cushing syndrome due to cortisol-producing adrenocortical adenoma skos:exactMatch Orphanet:642788 Cushing syndrome due to cortisol-producing adrenocortical adenoma semapv:UnspecifiedMatching MONDO:0958258 Cushing syndrome due to cortisol-producing adrenocortical adenoma skos:exactMatch UMLS:C5816799 semapv:UnspecifiedMatching MONDO:0958259 dysraphism with stalk skos:exactMatch MEDGEN:1853160 semapv:UnspecifiedMatching MONDO:0958259 dysraphism with stalk skos:exactMatch Orphanet:645193 Dysraphism with stalk semapv:UnspecifiedMatching MONDO:0958259 dysraphism with stalk skos:exactMatch UMLS:C5816733 semapv:UnspecifiedMatching MONDO:0958260 dysraphic spinal cord lipoma skos:exactMatch MEDGEN:1853158 semapv:UnspecifiedMatching MONDO:0958260 dysraphic spinal cord lipoma skos:exactMatch Orphanet:645273 Dysraphic spinal cord lipoma semapv:UnspecifiedMatching MONDO:0958260 dysraphic spinal cord lipoma skos:exactMatch UMLS:C5816731 semapv:UnspecifiedMatching MONDO:0958262 isolated primary pigmented nodular adrenocortical disease skos:exactMatch MEDGEN:1853165 semapv:UnspecifiedMatching MONDO:0958262 isolated primary pigmented nodular adrenocortical disease skos:exactMatch Orphanet:647772 Isolated primary pigmented nodular adrenocortical disease semapv:UnspecifiedMatching MONDO:0958262 isolated primary pigmented nodular adrenocortical disease skos:exactMatch UMLS:C5816750 semapv:UnspecifiedMatching MONDO:0958263 isolated micronodular adrenocortical disease skos:exactMatch MEDGEN:1853162 semapv:UnspecifiedMatching MONDO:0958263 isolated micronodular adrenocortical disease skos:exactMatch Orphanet:647782 Isolated micronodular adrenocortical disease semapv:UnspecifiedMatching MONDO:0958263 isolated micronodular adrenocortical disease skos:exactMatch UMLS:C5816756 semapv:UnspecifiedMatching MONDO:0958264 infectious scleritis skos:exactMatch MEDGEN:1853163 semapv:UnspecifiedMatching MONDO:0958264 infectious scleritis skos:exactMatch Orphanet:648665 Infectious scleritis semapv:UnspecifiedMatching MONDO:0958264 infectious scleritis skos:exactMatch UMLS:C5816746 semapv:UnspecifiedMatching MONDO:0958265 idiopathic scleritis skos:exactMatch MEDGEN:1853157 semapv:UnspecifiedMatching MONDO:0958265 idiopathic scleritis skos:exactMatch Orphanet:648675 Idiopathic scleritis semapv:UnspecifiedMatching MONDO:0958265 idiopathic scleritis skos:exactMatch UMLS:C5816747 semapv:UnspecifiedMatching MONDO:0958266 immune-mediated scleritis skos:exactMatch MEDGEN:1853164 semapv:UnspecifiedMatching MONDO:0958266 immune-mediated scleritis skos:exactMatch Orphanet:648681 Immune-mediated scleritis semapv:UnspecifiedMatching MONDO:0958266 immune-mediated scleritis skos:exactMatch UMLS:C5578029 semapv:UnspecifiedMatching MONDO:0958267 non-syndromic bridging bronchus skos:exactMatch MEDGEN:1853159 semapv:UnspecifiedMatching MONDO:0958267 non-syndromic bridging bronchus skos:exactMatch Orphanet:648992 Non-syndromic bridging bronchus semapv:UnspecifiedMatching MONDO:0958267 non-syndromic bridging bronchus skos:exactMatch UMLS:C5816737 semapv:UnspecifiedMatching MONDO:0958268 non-syndromic congenital bronchial atresia skos:exactMatch MEDGEN:1853136 semapv:UnspecifiedMatching MONDO:0958268 non-syndromic congenital bronchial atresia skos:exactMatch Orphanet:649010 Non-syndromic congenital bronchial atresia semapv:UnspecifiedMatching MONDO:0958268 non-syndromic congenital bronchial atresia skos:exactMatch UMLS:C5816738 semapv:UnspecifiedMatching MONDO:0958269 isolated left bronchial isomerism skos:exactMatch MEDGEN:1853146 semapv:UnspecifiedMatching MONDO:0958269 isolated left bronchial isomerism skos:exactMatch Orphanet:649029 Isolated left bronchial isomerism semapv:UnspecifiedMatching MONDO:0958269 isolated left bronchial isomerism skos:exactMatch UMLS:C5816741 semapv:UnspecifiedMatching MONDO:0958270 central precocious puberty in male skos:exactMatch MEDGEN:1853132 semapv:UnspecifiedMatching MONDO:0958270 central precocious puberty in male skos:exactMatch Orphanet:649929 Central precocious puberty in male semapv:UnspecifiedMatching MONDO:0958270 central precocious puberty in male skos:exactMatch UMLS:C5816736 semapv:UnspecifiedMatching MONDO:0958273 cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation skos:exactMatch MEDGEN:1863442 semapv:UnspecifiedMatching MONDO:0958273 cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation skos:exactMatch Orphanet:652514 Cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation semapv:UnspecifiedMatching MONDO:0958273 cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation skos:exactMatch UMLS:C5925117 semapv:UnspecifiedMatching MONDO:0958274 benign atrophic papulosis skos:exactMatch MEDGEN:1864041 semapv:UnspecifiedMatching MONDO:0958274 benign atrophic papulosis skos:exactMatch Orphanet:656085 Benign atrophic papulosis semapv:UnspecifiedMatching MONDO:0958274 benign atrophic papulosis skos:exactMatch UMLS:C5891170 semapv:UnspecifiedMatching MONDO:0958275 segmental spinal dysgenesis skos:exactMatch MEDGEN:1863453 semapv:UnspecifiedMatching MONDO:0958275 segmental spinal dysgenesis skos:exactMatch Orphanet:656126 Segmental spinal dysgenesis semapv:UnspecifiedMatching MONDO:0958275 segmental spinal dysgenesis skos:exactMatch UMLS:C5891176 semapv:UnspecifiedMatching MONDO:0958277 hearing loss, autosomal recessive 123 skos:exactMatch MEDGEN:1861332 semapv:UnspecifiedMatching MONDO:0958277 hearing loss, autosomal recessive 123 skos:exactMatch OMIM:620745 deafness, autosomal recessive 123 semapv:UnspecifiedMatching MONDO:0958277 hearing loss, autosomal recessive 123 skos:exactMatch UMLS:C5935588 semapv:UnspecifiedMatching MONDO:0958278 neurodevelopmental disorder with hypotonia and characteristic brain abnormalities skos:exactMatch MEDGEN:1855201 semapv:UnspecifiedMatching MONDO:0958278 neurodevelopmental disorder with hypotonia and characteristic brain abnormalities skos:exactMatch OMIM:620746 neurodevelopmental disorder with hypotonia and characteristic brain abnormalities semapv:UnspecifiedMatching MONDO:0958278 neurodevelopmental disorder with hypotonia and characteristic brain abnormalities skos:exactMatch Orphanet:664430 Neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0958278 neurodevelopmental disorder with hypotonia and characteristic brain abnormalities skos:exactMatch UMLS:C5935589 semapv:UnspecifiedMatching MONDO:0958279 megalencephaly-polydactyly syndrome skos:exactMatch MEDGEN:1855924 semapv:UnspecifiedMatching MONDO:0958279 megalencephaly-polydactyly syndrome skos:exactMatch OMIM:620748 megalencephaly-polydactyly syndrome semapv:UnspecifiedMatching MONDO:0958279 megalencephaly-polydactyly syndrome skos:exactMatch UMLS:C5935591 semapv:UnspecifiedMatching MONDO:0958295 BCOR ITD sarcoma skos:exactMatch DOID:0081403 BCOR ITD sarcoma semapv:UnspecifiedMatching MONDO:0958295 BCOR ITD sarcoma skos:exactMatch MEDGEN:1791501 semapv:UnspecifiedMatching MONDO:0958295 BCOR ITD sarcoma skos:exactMatch UMLS:C5555060 semapv:UnspecifiedMatching MONDO:0958296 BCOR-CCNB3 sarcoma skos:exactMatch DOID:0081404 BCOR-CCNB3 sarcoma semapv:UnspecifiedMatching MONDO:0958296 BCOR-CCNB3 sarcoma skos:exactMatch MEDGEN:1791499 semapv:UnspecifiedMatching MONDO:0958296 BCOR-CCNB3 sarcoma skos:exactMatch UMLS:C5555058 semapv:UnspecifiedMatching MONDO:0958297 childhood sarcoma with BCOR genetic alterations skos:exactMatch DOID:0081405 childhood sarcoma with BCOR genetic alterations semapv:UnspecifiedMatching MONDO:0958297 childhood sarcoma with BCOR genetic alterations skos:exactMatch MEDGEN:1817088 semapv:UnspecifiedMatching MONDO:0958297 childhood sarcoma with BCOR genetic alterations skos:exactMatch UMLS:C5708183 semapv:UnspecifiedMatching MONDO:0958298 childhood round cell sarcoma with EWSR1-non-ETS fusion skos:exactMatch DOID:0081407 childhood round cell sarcoma with EWSR1-non-ETS fusion semapv:UnspecifiedMatching MONDO:0958298 childhood round cell sarcoma with EWSR1-non-ETS fusion skos:exactMatch MEDGEN:1817086 semapv:UnspecifiedMatching MONDO:0958298 childhood round cell sarcoma with EWSR1-non-ETS fusion skos:exactMatch UMLS:C5708181 semapv:UnspecifiedMatching MONDO:0958299 round cell sarcoma with EWSR1-NFATC2 gene fusion skos:exactMatch DOID:0081408 round cell sarcoma with EWSR1-NFATC2 gene fusion semapv:UnspecifiedMatching MONDO:0958299 round cell sarcoma with EWSR1-NFATC2 gene fusion skos:exactMatch MEDGEN:1791493 semapv:UnspecifiedMatching MONDO:0958299 round cell sarcoma with EWSR1-NFATC2 gene fusion skos:exactMatch UMLS:C5555052 semapv:UnspecifiedMatching MONDO:0958300 round cell sarcoma with EWSR1-PATZ1 gene fusion skos:exactMatch DOID:0081409 round cell sarcoma with EWSR1-PATZ1 gene fusion semapv:UnspecifiedMatching MONDO:0958300 round cell sarcoma with EWSR1-PATZ1 gene fusion skos:exactMatch MEDGEN:1791494 semapv:UnspecifiedMatching MONDO:0958300 round cell sarcoma with EWSR1-PATZ1 gene fusion skos:exactMatch UMLS:C5555053 semapv:UnspecifiedMatching MONDO:0958301 round cell sarcoma with FUS-NFATC2 gene fusion skos:exactMatch DOID:0081410 round cell sarcoma with FUS-NFATC2 gene fusion semapv:UnspecifiedMatching MONDO:0958301 round cell sarcoma with FUS-NFATC2 gene fusion skos:exactMatch MEDGEN:1791495 semapv:UnspecifiedMatching MONDO:0958301 round cell sarcoma with FUS-NFATC2 gene fusion skos:exactMatch UMLS:C5555054 semapv:UnspecifiedMatching MONDO:0958302 TFEB-rearranged renal cell carcinoma skos:exactMatch DOID:0081414 TFEB-rearranged renal cell carcinoma semapv:UnspecifiedMatching MONDO:0958302 TFEB-rearranged renal cell carcinoma skos:exactMatch MEDGEN:1664261 semapv:UnspecifiedMatching MONDO:0958302 TFEB-rearranged renal cell carcinoma skos:exactMatch UMLS:C4745249 semapv:UnspecifiedMatching MONDO:0958303 childhood renal cell carcinoma with MiT translocations skos:exactMatch DOID:0081416 childhood renal cell carcinoma with MiT translocations semapv:UnspecifiedMatching MONDO:0958303 childhood renal cell carcinoma with MiT translocations skos:exactMatch MEDGEN:1817233 semapv:UnspecifiedMatching MONDO:0958303 childhood renal cell carcinoma with MiT translocations skos:exactMatch UMLS:C5708328 semapv:UnspecifiedMatching MONDO:0958322 intellectual developmental disorder, X-linked, syndromic 37 skos:exactMatch MEDGEN:1854940 semapv:UnspecifiedMatching MONDO:0958322 intellectual developmental disorder, X-linked, syndromic 37 skos:exactMatch OMIM:301118 intellectual developmental disorder, x-linked, syndromic 37 semapv:UnspecifiedMatching MONDO:0958322 intellectual developmental disorder, X-linked, syndromic 37 skos:exactMatch UMLS:C5935567 semapv:UnspecifiedMatching MONDO:0958323 neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities skos:exactMatch MEDGEN:1857802 semapv:UnspecifiedMatching MONDO:0958323 neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities skos:exactMatch OMIM:620747 neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities semapv:UnspecifiedMatching MONDO:0958323 neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities skos:exactMatch UMLS:C5935590 semapv:UnspecifiedMatching MONDO:0958324 generalized epilepsy with febrile seizures plus, type 12 skos:exactMatch MEDGEN:1854923 semapv:UnspecifiedMatching MONDO:0958324 generalized epilepsy with febrile seizures plus, type 12 skos:exactMatch OMIM:620755 generalized epilepsy with febrile seizures plus, type 12 semapv:UnspecifiedMatching MONDO:0958324 generalized epilepsy with febrile seizures plus, type 12 skos:exactMatch UMLS:C5935592 semapv:UnspecifiedMatching MONDO:0958325 thrombocytopenia 12 with or without myopathy skos:exactMatch MEDGEN:1861803 semapv:UnspecifiedMatching MONDO:0958325 thrombocytopenia 12 with or without myopathy skos:exactMatch OMIM:620757 thrombocytopenia 12 with or without myopathy semapv:UnspecifiedMatching MONDO:0958325 thrombocytopenia 12 with or without myopathy skos:exactMatch UMLS:C5935593 semapv:UnspecifiedMatching MONDO:0958326 macular dystrophy with or without cone dysfunction skos:exactMatch MEDGEN:1853300 semapv:UnspecifiedMatching MONDO:0958326 macular dystrophy with or without cone dysfunction skos:exactMatch OMIM:620762 macular dystrophy with or without cone dysfunction semapv:UnspecifiedMatching MONDO:0958326 macular dystrophy with or without cone dysfunction skos:exactMatch UMLS:C5935594 semapv:UnspecifiedMatching MONDO:0958328 Seckel syndrome 11 skos:exactMatch MEDGEN:1855399 semapv:UnspecifiedMatching MONDO:0958328 Seckel syndrome 11 skos:exactMatch OMIM:620767 seckel syndrome 11 semapv:UnspecifiedMatching MONDO:0958328 Seckel syndrome 11 skos:exactMatch UMLS:C5935595 semapv:UnspecifiedMatching MONDO:0958329 Jeffries-Lakhani neurodevelopmental syndrome skos:exactMatch MEDGEN:1854360 semapv:UnspecifiedMatching MONDO:0958329 Jeffries-Lakhani neurodevelopmental syndrome skos:exactMatch OMIM:620771 jeffries-lakhani neurodevelopmental syndrome semapv:UnspecifiedMatching MONDO:0958329 Jeffries-Lakhani neurodevelopmental syndrome skos:exactMatch UMLS:C5935596 semapv:UnspecifiedMatching MONDO:0958330 developmental and epileptic encephalopathy 113 skos:exactMatch MEDGEN:1859161 semapv:UnspecifiedMatching MONDO:0958330 developmental and epileptic encephalopathy 113 skos:exactMatch OMIM:620772 developmental and epileptic encephalopathy 113 semapv:UnspecifiedMatching MONDO:0958330 developmental and epileptic encephalopathy 113 skos:exactMatch UMLS:C5935597 semapv:UnspecifiedMatching MONDO:0958331 developmental and epileptic encephalopathy 114 skos:exactMatch MEDGEN:1860189 semapv:UnspecifiedMatching MONDO:0958331 developmental and epileptic encephalopathy 114 skos:exactMatch OMIM:620774 developmental and epileptic encephalopathy 114 semapv:UnspecifiedMatching MONDO:0958331 developmental and epileptic encephalopathy 114 skos:exactMatch UMLS:C5935598 semapv:UnspecifiedMatching MONDO:0958332 neuromuscular disorder, congenital, with dysmorphic facies skos:exactMatch MEDGEN:1857169 semapv:UnspecifiedMatching MONDO:0958332 neuromuscular disorder, congenital, with dysmorphic facies skos:exactMatch OMIM:620775 neuromuscular disorder, congenital, with dysmorphic facies semapv:UnspecifiedMatching MONDO:0958332 neuromuscular disorder, congenital, with dysmorphic facies skos:exactMatch UMLS:C5935643 semapv:UnspecifiedMatching MONDO:0958333 thrombocytopenia 13, syndromic skos:exactMatch MEDGEN:1856296 semapv:UnspecifiedMatching MONDO:0958333 thrombocytopenia 13, syndromic skos:exactMatch OMIM:620776 thrombocytopenia 13, syndromic semapv:UnspecifiedMatching MONDO:0958333 thrombocytopenia 13, syndromic skos:exactMatch UMLS:C5935599 semapv:UnspecifiedMatching MONDO:0958334 pulmonary hypertension, primary, 6 skos:exactMatch MEDGEN:1863339 semapv:UnspecifiedMatching MONDO:0958334 pulmonary hypertension, primary, 6 skos:exactMatch OMIM:620777 pulmonary hypertension, primary, 6 semapv:UnspecifiedMatching MONDO:0958334 pulmonary hypertension, primary, 6 skos:exactMatch UMLS:C5935600 semapv:UnspecifiedMatching MONDO:0958335 cutis laxa, autosomal recessive, type 1d skos:exactMatch MEDGEN:1857168 semapv:UnspecifiedMatching MONDO:0958335 cutis laxa, autosomal recessive, type 1d skos:exactMatch OMIM:620780 cutis laxa, autosomal recessive, type 1d semapv:UnspecifiedMatching MONDO:0958335 cutis laxa, autosomal recessive, type 1d skos:exactMatch UMLS:C5935602 semapv:UnspecifiedMatching MONDO:0958342 isolated optic nerve aplasia skos:exactMatch MEDGEN:1836872 semapv:UnspecifiedMatching MONDO:0958342 isolated optic nerve aplasia skos:exactMatch Orphanet:637064 Isolated optic nerve aplasia semapv:UnspecifiedMatching MONDO:0958342 isolated optic nerve aplasia skos:exactMatch UMLS:C5816782 semapv:UnspecifiedMatching MONDO:0958343 PAPASH syndrome skos:exactMatch MEDGEN:1853140 semapv:UnspecifiedMatching MONDO:0958343 PAPASH syndrome skos:exactMatch Orphanet:641380 PAPASH syndrome semapv:UnspecifiedMatching MONDO:0958343 PAPASH syndrome skos:exactMatch UMLS:C5816787 semapv:UnspecifiedMatching MONDO:0958344 spinal dermal sinus skos:exactMatch Orphanet:645188 Spinal dermal sinus semapv:UnspecifiedMatching MONDO:0958345 limited dorsal myeloschisis skos:exactMatch MEDGEN:1853137 semapv:UnspecifiedMatching MONDO:0958345 limited dorsal myeloschisis skos:exactMatch Orphanet:645196 Limited dorsal myeloschisis semapv:UnspecifiedMatching MONDO:0958345 limited dorsal myeloschisis skos:exactMatch UMLS:C5781237 semapv:UnspecifiedMatching MONDO:0958346 isolated transitional filum lipoma skos:exactMatch MEDGEN:1853141 semapv:UnspecifiedMatching MONDO:0958346 isolated transitional filum lipoma skos:exactMatch Orphanet:645322 Isolated transitional filum lipoma semapv:UnspecifiedMatching MONDO:0958346 isolated transitional filum lipoma skos:exactMatch UMLS:C5816722 semapv:UnspecifiedMatching MONDO:0958347 isolated filum lipoma skos:exactMatch MEDGEN:1853135 semapv:UnspecifiedMatching MONDO:0958347 isolated filum lipoma skos:exactMatch Orphanet:645325 Isolated filum lipoma semapv:UnspecifiedMatching MONDO:0958347 isolated filum lipoma skos:exactMatch UMLS:C5816720 semapv:UnspecifiedMatching MONDO:0958348 retained medullary cord skos:exactMatch MEDGEN:1853139 semapv:UnspecifiedMatching MONDO:0958348 retained medullary cord skos:exactMatch Orphanet:645334 Retained medullary cord semapv:UnspecifiedMatching MONDO:0958348 retained medullary cord skos:exactMatch UMLS:C5816811 semapv:UnspecifiedMatching MONDO:0958349 dorsal spinal cord lipoma skos:exactMatch MEDGEN:741207 semapv:UnspecifiedMatching MONDO:0958349 dorsal spinal cord lipoma skos:exactMatch Orphanet:645362 Dorsal spinal cord lipoma semapv:UnspecifiedMatching MONDO:0958349 dorsal spinal cord lipoma skos:exactMatch UMLS:C1827419 semapv:UnspecifiedMatching MONDO:0958350 conus spinal cord lipoma skos:exactMatch MEDGEN:1853144 semapv:UnspecifiedMatching MONDO:0958350 conus spinal cord lipoma skos:exactMatch Orphanet:645367 Conus spinal cord lipoma semapv:UnspecifiedMatching MONDO:0958350 conus spinal cord lipoma skos:exactMatch UMLS:C5816712 semapv:UnspecifiedMatching MONDO:0958351 hemi-myeloschisis skos:exactMatch MEDGEN:1853138 semapv:UnspecifiedMatching MONDO:0958351 hemi-myeloschisis skos:exactMatch Orphanet:645393 Hemi-myeloschisis semapv:UnspecifiedMatching MONDO:0958351 hemi-myeloschisis skos:exactMatch UMLS:C5816709 semapv:UnspecifiedMatching MONDO:0958352 true myeloschisis skos:exactMatch MEDGEN:1853154 semapv:UnspecifiedMatching MONDO:0958352 true myeloschisis skos:exactMatch Orphanet:645401 True myeloschisis semapv:UnspecifiedMatching MONDO:0958352 true myeloschisis skos:exactMatch UMLS:C5816711 semapv:UnspecifiedMatching MONDO:0958353 intermediate collagen VI-related muscular dystrophy skos:exactMatch MEDGEN:1853152 semapv:UnspecifiedMatching MONDO:0958353 intermediate collagen VI-related muscular dystrophy skos:exactMatch Orphanet:646113 Intermediate collagen VI-related muscular dystrophy semapv:UnspecifiedMatching MONDO:0958353 intermediate collagen VI-related muscular dystrophy skos:exactMatch UMLS:C5816698 semapv:UnspecifiedMatching MONDO:0958354 genetic central precocious puberty in female skos:exactMatch MEDGEN:1853156 semapv:UnspecifiedMatching MONDO:0958354 genetic central precocious puberty in female skos:exactMatch Orphanet:650077 Genetic central precocious puberty in female semapv:UnspecifiedMatching MONDO:0958354 genetic central precocious puberty in female skos:exactMatch UMLS:C5816765 semapv:UnspecifiedMatching MONDO:0958355 secondary central precocious puberty in female skos:exactMatch MEDGEN:1853148 semapv:UnspecifiedMatching MONDO:0958355 secondary central precocious puberty in female skos:exactMatch Orphanet:650082 Secondary central precocious puberty in female semapv:UnspecifiedMatching MONDO:0958355 secondary central precocious puberty in female skos:exactMatch UMLS:C5816762 semapv:UnspecifiedMatching MONDO:0958356 primary central precocious puberty in male skos:exactMatch MEDGEN:1853130 semapv:UnspecifiedMatching MONDO:0958356 primary central precocious puberty in male skos:exactMatch Orphanet:650087 Primary central precocious puberty in male semapv:UnspecifiedMatching MONDO:0958356 primary central precocious puberty in male skos:exactMatch UMLS:C5816763 semapv:UnspecifiedMatching MONDO:0958357 secondary central precocious puberty in male skos:exactMatch MEDGEN:1853131 semapv:UnspecifiedMatching MONDO:0958357 secondary central precocious puberty in male skos:exactMatch Orphanet:650092 Secondary central precocious puberty in male semapv:UnspecifiedMatching MONDO:0958357 secondary central precocious puberty in male skos:exactMatch UMLS:C5816760 semapv:UnspecifiedMatching MONDO:0968944 intellectual developmental disorder, autosomal recessive 82 skos:exactMatch DOID:0060947 autosomal recessive intellectual developmental disorder 82 semapv:UnspecifiedMatching MONDO:0968944 intellectual developmental disorder, autosomal recessive 82 skos:exactMatch MEDGEN:1858975 semapv:UnspecifiedMatching MONDO:0968944 intellectual developmental disorder, autosomal recessive 82 skos:exactMatch OMIM:620779 intellectual developmental disorder, autosomal recessive 82 semapv:UnspecifiedMatching MONDO:0968944 intellectual developmental disorder, autosomal recessive 82 skos:exactMatch UMLS:C5935601 semapv:UnspecifiedMatching MONDO:0968945 neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder skos:exactMatch MEDGEN:1854977 semapv:UnspecifiedMatching MONDO:0968945 neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder skos:exactMatch OMIM:620782 neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder semapv:UnspecifiedMatching MONDO:0968945 neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder skos:exactMatch UMLS:C5935603 semapv:UnspecifiedMatching MONDO:0968946 developmental and epileptic encephalopathy 115 skos:exactMatch MEDGEN:1858870 semapv:UnspecifiedMatching MONDO:0968946 developmental and epileptic encephalopathy 115 skos:exactMatch OMIM:620783 developmental and epileptic encephalopathy 115 semapv:UnspecifiedMatching MONDO:0968946 developmental and epileptic encephalopathy 115 skos:exactMatch UMLS:C5935604 semapv:UnspecifiedMatching MONDO:0968947 neurodevelopmental disorder plus optic atrophy skos:exactMatch MEDGEN:1859522 semapv:UnspecifiedMatching MONDO:0968947 neurodevelopmental disorder plus optic atrophy skos:exactMatch OMIM:620784 neurodevelopmental disorder plus optic atrophy semapv:UnspecifiedMatching MONDO:0968947 neurodevelopmental disorder plus optic atrophy skos:exactMatch UMLS:C5935605 semapv:UnspecifiedMatching MONDO:0968949 palmoplantar keratoderma, epidermolytic skos:exactMatch DOID:0080223 epidermolytic palmoplantar keratoderma semapv:UnspecifiedMatching MONDO:0968949 palmoplantar keratoderma, epidermolytic skos:exactMatch MEDGEN:354561 semapv:UnspecifiedMatching MONDO:0968949 palmoplantar keratoderma, epidermolytic skos:exactMatch OMIMPS:144200 Palmoplantar keratoderma, epidermolytic semapv:UnspecifiedMatching MONDO:0968949 palmoplantar keratoderma, epidermolytic skos:exactMatch UMLS:C1721006 semapv:UnspecifiedMatching MONDO:0968951 hypouricemia, renal skos:exactMatch OMIMPS:220150 Hypouricemia, renal semapv:UnspecifiedMatching MONDO:0968955 hypocalcified amelogenesis imperfecta skos:exactMatch MEDGEN:140773 semapv:UnspecifiedMatching MONDO:0968955 hypocalcified amelogenesis imperfecta skos:exactMatch Orphanet:100032 Hypocalcified amelogenesis imperfecta semapv:UnspecifiedMatching MONDO:0968955 hypocalcified amelogenesis imperfecta skos:exactMatch UMLS:C0399376 semapv:UnspecifiedMatching MONDO:0968955 hypocalcified amelogenesis imperfecta skos:exactMatch icd11.foundation:1793262466 Hypocalcified amelogenesis imperfecta semapv:UnspecifiedMatching MONDO:0968959 isolated arhinencephaly skos:exactMatch MEDGEN:1650277 semapv:UnspecifiedMatching MONDO:0968959 isolated arhinencephaly skos:exactMatch Orphanet:268936 Isolated arhinencephaly semapv:UnspecifiedMatching MONDO:0968959 isolated arhinencephaly skos:exactMatch UMLS:C4749732 semapv:UnspecifiedMatching MONDO:0968974 large B-cell lymphoma skos:exactMatch DOID:0081452 large B-cell lymphoma semapv:UnspecifiedMatching MONDO:0968974 large B-cell lymphoma skos:exactMatch MEDGEN:1853176 semapv:UnspecifiedMatching MONDO:0968974 large B-cell lymphoma skos:exactMatch UMLS:C5212315 semapv:UnspecifiedMatching MONDO:0968976 neurodevelopmental disorder with progressive movement abnormalities skos:exactMatch MEDGEN:1861832 semapv:UnspecifiedMatching MONDO:0968976 neurodevelopmental disorder with progressive movement abnormalities skos:exactMatch OMIM:620785 neurodevelopmental disorder with progressive movement abnormalities semapv:UnspecifiedMatching MONDO:0968976 neurodevelopmental disorder with progressive movement abnormalities skos:exactMatch UMLS:C5935606 semapv:UnspecifiedMatching MONDO:0968977 basal ganglia calcification, idiopathic, 9, autosomal recessive skos:exactMatch MEDGEN:1854926 semapv:UnspecifiedMatching MONDO:0968977 basal ganglia calcification, idiopathic, 9, autosomal recessive skos:exactMatch OMIM:620786 basal ganglia calcification, idiopathic, 9, autosomal recessive semapv:UnspecifiedMatching MONDO:0968977 basal ganglia calcification, idiopathic, 9, autosomal recessive skos:exactMatch UMLS:C5935607 semapv:UnspecifiedMatching MONDO:0968978 aplasia cutis-enamel dysplasia syndrome skos:exactMatch MEDGEN:1854704 semapv:UnspecifiedMatching MONDO:0968978 aplasia cutis-enamel dysplasia syndrome skos:exactMatch OMIM:620789 aplasia cutis-enamel dysplasia syndrome semapv:UnspecifiedMatching MONDO:0968978 aplasia cutis-enamel dysplasia syndrome skos:exactMatch Orphanet:697356 Congenital scalp aplasia cutis-enamel hypoplasia-developmental delay-intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0968978 aplasia cutis-enamel dysplasia syndrome skos:exactMatch UMLS:C5935608 semapv:UnspecifiedMatching MONDO:0968979 neurodevelopmental disorder with hypotonia and seizures skos:exactMatch MEDGEN:1857806 semapv:UnspecifiedMatching MONDO:0968979 neurodevelopmental disorder with hypotonia and seizures skos:exactMatch OMIM:620790 neurodevelopmental disorder with hypotonia and seizures semapv:UnspecifiedMatching MONDO:0968979 neurodevelopmental disorder with hypotonia and seizures skos:exactMatch UMLS:C5935609 semapv:UnspecifiedMatching MONDO:0968980 otosclerosis 12 skos:exactMatch MEDGEN:1856162 semapv:UnspecifiedMatching MONDO:0968980 otosclerosis 12 skos:exactMatch OMIM:620792 otosclerosis 12 semapv:UnspecifiedMatching MONDO:0968980 otosclerosis 12 skos:exactMatch UMLS:C5935610 semapv:UnspecifiedMatching MONDO:0968981 autosomal recessive nonsyndromic hearing loss 124 skos:exactMatch MEDGEN:1861039 semapv:UnspecifiedMatching MONDO:0968981 autosomal recessive nonsyndromic hearing loss 124 skos:exactMatch OMIM:620794 deafness, autosomal recessive 124 semapv:UnspecifiedMatching MONDO:0968981 autosomal recessive nonsyndromic hearing loss 124 skos:exactMatch UMLS:C5935612 semapv:UnspecifiedMatching MONDO:0968982 autoinflammation with episodic fever and immune dysregulation skos:exactMatch MEDGEN:1856440 semapv:UnspecifiedMatching MONDO:0968982 autoinflammation with episodic fever and immune dysregulation skos:exactMatch OMIM:620795 autoinflammation with episodic fever and immune dysregulation semapv:UnspecifiedMatching MONDO:0968982 autoinflammation with episodic fever and immune dysregulation skos:exactMatch UMLS:C5935613 semapv:UnspecifiedMatching MONDO:0968983 proteasome-associated autoinflammatory syndrome 6 skos:exactMatch MEDGEN:1857440 semapv:UnspecifiedMatching MONDO:0968983 proteasome-associated autoinflammatory syndrome 6 skos:exactMatch OMIM:620796 proteasome-associated autoinflammatory syndrome 6 semapv:UnspecifiedMatching MONDO:0968983 proteasome-associated autoinflammatory syndrome 6 skos:exactMatch UMLS:C5935614 semapv:UnspecifiedMatching MONDO:0968986 chaotic conus spinal cord lipoma skos:exactMatch MEDGEN:1853143 semapv:UnspecifiedMatching MONDO:0968986 chaotic conus spinal cord lipoma skos:exactMatch Orphanet:645285 Chaotic conus spinal cord lipoma semapv:UnspecifiedMatching MONDO:0968986 chaotic conus spinal cord lipoma skos:exactMatch UMLS:C5816729 semapv:UnspecifiedMatching MONDO:0968987 extramedullary conus spinal cord lipoma skos:exactMatch MEDGEN:1853155 semapv:UnspecifiedMatching MONDO:0968987 extramedullary conus spinal cord lipoma skos:exactMatch Orphanet:645297 Extramedullary conus spinal cord lipoma semapv:UnspecifiedMatching MONDO:0968987 extramedullary conus spinal cord lipoma skos:exactMatch UMLS:C5816726 semapv:UnspecifiedMatching MONDO:0968988 saccular spinal dysraphism with a stalk to the dome skos:exactMatch MEDGEN:1853133 semapv:UnspecifiedMatching MONDO:0968988 saccular spinal dysraphism with a stalk to the dome skos:exactMatch Orphanet:645319 Saccular spinal dysraphism with a stalk to the dome semapv:UnspecifiedMatching MONDO:0968988 saccular spinal dysraphism with a stalk to the dome skos:exactMatch UMLS:C5816721 semapv:UnspecifiedMatching MONDO:0968989 non-saccular limited dorsal myeloschisis skos:exactMatch MEDGEN:1853129 semapv:UnspecifiedMatching MONDO:0968989 non-saccular limited dorsal myeloschisis skos:exactMatch Orphanet:645343 Non-saccular limited dorsal myeloschisis semapv:UnspecifiedMatching MONDO:0968989 non-saccular limited dorsal myeloschisis skos:exactMatch UMLS:C5816717 semapv:UnspecifiedMatching MONDO:0968990 genetic central precocious puberty in male skos:exactMatch MEDGEN:1853128 semapv:UnspecifiedMatching MONDO:0968990 genetic central precocious puberty in male skos:exactMatch Orphanet:650097 Genetic central precocious puberty in male semapv:UnspecifiedMatching MONDO:0968990 genetic central precocious puberty in male skos:exactMatch UMLS:C5816761 semapv:UnspecifiedMatching MONDO:0968991 non-genetic central precocious puberty in male skos:exactMatch MEDGEN:1853153 semapv:UnspecifiedMatching MONDO:0968991 non-genetic central precocious puberty in male skos:exactMatch Orphanet:650102 Non-genetic central precocious puberty in male semapv:UnspecifiedMatching MONDO:0968991 non-genetic central precocious puberty in male skos:exactMatch UMLS:C5816759 semapv:UnspecifiedMatching MONDO:0970943 spermatogenic failure, X-linked, 8 skos:exactMatch DOID:0070599 X-linked spermatogenic failure 8 semapv:UnspecifiedMatching MONDO:0970943 spermatogenic failure, X-linked, 8 skos:exactMatch MEDGEN:1858665 semapv:UnspecifiedMatching MONDO:0970943 spermatogenic failure, X-linked, 8 skos:exactMatch OMIM:301119 spermatogenic failure, x-linked, 8 semapv:UnspecifiedMatching MONDO:0970943 spermatogenic failure, X-linked, 8 skos:exactMatch UMLS:C5935568 semapv:UnspecifiedMatching MONDO:0970944 Leigh syndrome, mitochondrial skos:exactMatch OMIM:500017 leigh syndrome, mitochondrial semapv:UnspecifiedMatching MONDO:0970945 developmental and epileptic encephalopathy 116 skos:exactMatch DOID:0070545 developmental and epileptic encephalopathy 116 semapv:UnspecifiedMatching MONDO:0970945 developmental and epileptic encephalopathy 116 skos:exactMatch MEDGEN:1857742 semapv:UnspecifiedMatching MONDO:0970945 developmental and epileptic encephalopathy 116 skos:exactMatch OMIM:620806 developmental and epileptic encephalopathy 116 semapv:UnspecifiedMatching MONDO:0970945 developmental and epileptic encephalopathy 116 skos:exactMatch UMLS:C5935615 semapv:UnspecifiedMatching MONDO:0970950 Rothmund-Thomson syndrome type 4 skos:exactMatch MEDGEN:1854023 semapv:UnspecifiedMatching MONDO:0970950 Rothmund-Thomson syndrome type 4 skos:exactMatch OMIM:620819 rothmund-thomson syndrome, type 4 semapv:UnspecifiedMatching MONDO:0970950 Rothmund-Thomson syndrome type 4 skos:exactMatch UMLS:C5935619 semapv:UnspecifiedMatching MONDO:0970951 El Hayek-Chahrour neurodevelopmental disorder skos:exactMatch MEDGEN:1863287 semapv:UnspecifiedMatching MONDO:0970951 El Hayek-Chahrour neurodevelopmental disorder skos:exactMatch OMIM:620820 el hayek-chahrour neurodevelopmental syndrome semapv:UnspecifiedMatching MONDO:0970951 El Hayek-Chahrour neurodevelopmental disorder skos:exactMatch UMLS:C5935620 semapv:UnspecifiedMatching MONDO:0970952 spermatogenic failure 91 skos:exactMatch DOID:0070590 spermatogenic failure 91 semapv:UnspecifiedMatching MONDO:0970952 spermatogenic failure 91 skos:exactMatch MEDGEN:1862682 semapv:UnspecifiedMatching MONDO:0970952 spermatogenic failure 91 skos:exactMatch OMIM:620838 spermatogenic failure 91 semapv:UnspecifiedMatching MONDO:0970952 spermatogenic failure 91 skos:exactMatch UMLS:C5935623 semapv:UnspecifiedMatching MONDO:0970957 terminal extramedullary conus spinal cord lipoma skos:exactMatch MEDGEN:1853126 semapv:UnspecifiedMatching MONDO:0970957 terminal extramedullary conus spinal cord lipoma skos:exactMatch Orphanet:645288 Terminal extramedullary conus spinal cord lipoma semapv:UnspecifiedMatching MONDO:0970957 terminal extramedullary conus spinal cord lipoma skos:exactMatch UMLS:C5816727 semapv:UnspecifiedMatching MONDO:0970958 transitional extramedullary conus spinal cord lipoma skos:exactMatch MEDGEN:1853150 semapv:UnspecifiedMatching MONDO:0970958 transitional extramedullary conus spinal cord lipoma skos:exactMatch Orphanet:645291 Transitional extramedullary conus spinal cord lipoma semapv:UnspecifiedMatching MONDO:0970958 transitional extramedullary conus spinal cord lipoma skos:exactMatch UMLS:C5816728 semapv:UnspecifiedMatching MONDO:0970959 posterior extramedullary conus spinal cord lipoma skos:exactMatch MEDGEN:1853127 semapv:UnspecifiedMatching MONDO:0970959 posterior extramedullary conus spinal cord lipoma skos:exactMatch Orphanet:645294 Posterior extramedullary conus spinal cord lipoma semapv:UnspecifiedMatching MONDO:0970959 posterior extramedullary conus spinal cord lipoma skos:exactMatch UMLS:C5816725 semapv:UnspecifiedMatching MONDO:0970960 lipomatous non-saccular limited dorsal myeloschisis skos:exactMatch MEDGEN:1853134 semapv:UnspecifiedMatching MONDO:0970960 lipomatous non-saccular limited dorsal myeloschisis skos:exactMatch Orphanet:645300 Lipomatous non-saccular limited dorsal myeloschisis semapv:UnspecifiedMatching MONDO:0970960 lipomatous non-saccular limited dorsal myeloschisis skos:exactMatch UMLS:C5816723 semapv:UnspecifiedMatching MONDO:0970961 fibroneural non-saccular limited dorsal myeloschisis skos:exactMatch MEDGEN:1853149 semapv:UnspecifiedMatching MONDO:0970961 fibroneural non-saccular limited dorsal myeloschisis skos:exactMatch Orphanet:645310 Fibroneural non-saccular limited dorsal myeloschisis semapv:UnspecifiedMatching MONDO:0970961 fibroneural non-saccular limited dorsal myeloschisis skos:exactMatch UMLS:C5816724 semapv:UnspecifiedMatching MONDO:0970962 terminal myelocystocele skos:exactMatch MEDGEN:1853147 semapv:UnspecifiedMatching MONDO:0970962 terminal myelocystocele skos:exactMatch Orphanet:645337 Terminal myelocystocele semapv:UnspecifiedMatching MONDO:0970962 terminal myelocystocele skos:exactMatch UMLS:C5816718 semapv:UnspecifiedMatching MONDO:0970963 saccular limited dorsal myeloschisis skos:exactMatch MEDGEN:1853145 semapv:UnspecifiedMatching MONDO:0970963 saccular limited dorsal myeloschisis skos:exactMatch Orphanet:645354 Saccular limited dorsal myeloschisis semapv:UnspecifiedMatching MONDO:0970963 saccular limited dorsal myeloschisis skos:exactMatch UMLS:C5816715 semapv:UnspecifiedMatching MONDO:0970964 myelic limited dorsal malformation skos:exactMatch MEDGEN:1853142 semapv:UnspecifiedMatching MONDO:0970964 myelic limited dorsal malformation skos:exactMatch Orphanet:645378 Myelic limited dorsal malformation semapv:UnspecifiedMatching MONDO:0970964 myelic limited dorsal malformation skos:exactMatch UMLS:C5816714 semapv:UnspecifiedMatching MONDO:0970993 immunodeficiency 119 skos:exactMatch DOID:0061085 immunodeficiency 119 semapv:UnspecifiedMatching MONDO:0970993 immunodeficiency 119 skos:exactMatch MEDGEN:1859911 semapv:UnspecifiedMatching MONDO:0970993 immunodeficiency 119 skos:exactMatch OMIM:620825 immunodeficiency 119 semapv:UnspecifiedMatching MONDO:0970993 immunodeficiency 119 skos:exactMatch UMLS:C5935621 semapv:UnspecifiedMatching MONDO:0970994 immunodeficiency 120 skos:exactMatch DOID:0061086 immunodeficiency 120 semapv:UnspecifiedMatching MONDO:0970994 immunodeficiency 120 skos:exactMatch MEDGEN:1862745 semapv:UnspecifiedMatching MONDO:0970994 immunodeficiency 120 skos:exactMatch OMIM:620836 immunodeficiency 120 semapv:UnspecifiedMatching MONDO:0970994 immunodeficiency 120 skos:exactMatch UMLS:C5935622 semapv:UnspecifiedMatching MONDO:0970995 premature ovarian failure 24 skos:exactMatch MEDGEN:1858807 semapv:UnspecifiedMatching MONDO:0970995 premature ovarian failure 24 skos:exactMatch OMIM:620840 premature ovarian failure 24 semapv:UnspecifiedMatching MONDO:0970995 premature ovarian failure 24 skos:exactMatch UMLS:C5935624 semapv:UnspecifiedMatching MONDO:0970998 auroneurodental syndrome skos:exactMatch MEDGEN:1861965 semapv:UnspecifiedMatching MONDO:0970998 auroneurodental syndrome skos:exactMatch OMIM:620830 auroneurodental syndrome semapv:UnspecifiedMatching MONDO:0970998 auroneurodental syndrome skos:exactMatch UMLS:C5889721 semapv:UnspecifiedMatching MONDO:0970999 spermatogenic failure 92 skos:exactMatch DOID:0070591 spermatogenic failure 92 semapv:UnspecifiedMatching MONDO:0970999 spermatogenic failure 92 skos:exactMatch MEDGEN:1856349 semapv:UnspecifiedMatching MONDO:0970999 spermatogenic failure 92 skos:exactMatch OMIM:620848 spermatogenic failure 92 semapv:UnspecifiedMatching MONDO:0970999 spermatogenic failure 92 skos:exactMatch UMLS:C5935625 semapv:UnspecifiedMatching MONDO:0971000 spermatogenic failure 93 skos:exactMatch DOID:0070592 spermatogenic failure 93 semapv:UnspecifiedMatching MONDO:0971000 spermatogenic failure 93 skos:exactMatch MEDGEN:1857096 semapv:UnspecifiedMatching MONDO:0971000 spermatogenic failure 93 skos:exactMatch OMIM:620849 spermatogenic failure 93 semapv:UnspecifiedMatching MONDO:0971000 spermatogenic failure 93 skos:exactMatch UMLS:C5935626 semapv:UnspecifiedMatching MONDO:0971001 immunodeficiency 121 with autoinflammation skos:exactMatch DOID:0061087 immunodeficiency 121 semapv:UnspecifiedMatching MONDO:0971001 immunodeficiency 121 with autoinflammation skos:exactMatch MEDGEN:1857174 semapv:UnspecifiedMatching MONDO:0971001 immunodeficiency 121 with autoinflammation skos:exactMatch OMIM:620807 immunodeficiency 121 with autoinflammation semapv:UnspecifiedMatching MONDO:0971001 immunodeficiency 121 with autoinflammation skos:exactMatch UMLS:C5935616 semapv:UnspecifiedMatching MONDO:0971002 spermatogenic failure 94 skos:exactMatch DOID:0070593 spermatogenic failure 94 semapv:UnspecifiedMatching MONDO:0971002 spermatogenic failure 94 skos:exactMatch MEDGEN:1855064 semapv:UnspecifiedMatching MONDO:0971002 spermatogenic failure 94 skos:exactMatch OMIM:620850 spermatogenic failure 94 semapv:UnspecifiedMatching MONDO:0971002 spermatogenic failure 94 skos:exactMatch UMLS:C5935627 semapv:UnspecifiedMatching MONDO:0971004 amyloidosis, hereditary systemic 1 skos:exactMatch MEDGEN:414031 semapv:UnspecifiedMatching MONDO:0971004 amyloidosis, hereditary systemic 1 skos:exactMatch OMIM:105210 amyloidosis, hereditary systemic 1 semapv:UnspecifiedMatching MONDO:0971004 amyloidosis, hereditary systemic 1 skos:exactMatch UMLS:C2751492 semapv:UnspecifiedMatching MONDO:0971005 MHC class II deficiency 1 skos:exactMatch OMIM:209920 mhc class 2 deficiency 1 semapv:UnspecifiedMatching MONDO:0971006 MHC class I deficiency 1 skos:exactMatch OMIM:604571 mhc class 1 deficiency 1 semapv:UnspecifiedMatching MONDO:0971007 neuroocular syndrome 1 skos:exactMatch MEDGEN:1863661 semapv:UnspecifiedMatching MONDO:0971007 neuroocular syndrome 1 skos:exactMatch OMIM:619539 neuroocular syndrome 1 semapv:UnspecifiedMatching MONDO:0971007 neuroocular syndrome 1 skos:exactMatch Orphanet:659904 Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome semapv:UnspecifiedMatching MONDO:0971007 neuroocular syndrome 1 skos:exactMatch UMLS:C5925133 semapv:UnspecifiedMatching MONDO:0971008 amyloidosis, hereditary systemic 3 skos:exactMatch MEDGEN:1635231 semapv:UnspecifiedMatching MONDO:0971008 amyloidosis, hereditary systemic 3 skos:exactMatch OMIM:620657 amyloidosis, hereditary systemic 3 semapv:UnspecifiedMatching MONDO:0971008 amyloidosis, hereditary systemic 3 skos:exactMatch UMLS:C4551500 semapv:UnspecifiedMatching MONDO:0971009 amyloidosis, hereditary systemic 5 skos:exactMatch MEDGEN:1859086 semapv:UnspecifiedMatching MONDO:0971009 amyloidosis, hereditary systemic 5 skos:exactMatch OMIM:620658 amyloidosis, hereditary systemic 5 semapv:UnspecifiedMatching MONDO:0971009 amyloidosis, hereditary systemic 5 skos:exactMatch UMLS:C5935572 semapv:UnspecifiedMatching MONDO:0971010 amyloidosis, hereditary systemic 6 skos:exactMatch MEDGEN:1860723 semapv:UnspecifiedMatching MONDO:0971010 amyloidosis, hereditary systemic 6 skos:exactMatch OMIM:620659 amyloidosis, hereditary systemic 6 semapv:UnspecifiedMatching MONDO:0971010 amyloidosis, hereditary systemic 6 skos:exactMatch UMLS:C5935573 semapv:UnspecifiedMatching MONDO:0971011 MHC class I deficiency 2 skos:exactMatch MEDGEN:1862135 semapv:UnspecifiedMatching MONDO:0971011 MHC class I deficiency 2 skos:exactMatch OMIM:620813 mhc class 1 deficiency 2 semapv:UnspecifiedMatching MONDO:0971011 MHC class I deficiency 2 skos:exactMatch UMLS:C5935617 semapv:UnspecifiedMatching MONDO:0971012 MHC class I deficiency 3 skos:exactMatch MEDGEN:1858909 semapv:UnspecifiedMatching MONDO:0971012 MHC class I deficiency 3 skos:exactMatch OMIM:620814 mhc class 1 deficiency 3 semapv:UnspecifiedMatching MONDO:0971012 MHC class I deficiency 3 skos:exactMatch UMLS:C5935618 semapv:UnspecifiedMatching MONDO:0971013 MHC class II deficiency 2 skos:exactMatch MEDGEN:347904 semapv:UnspecifiedMatching MONDO:0971013 MHC class II deficiency 2 skos:exactMatch OMIM:620815 mhc class 2 deficiency 2 semapv:UnspecifiedMatching MONDO:0971013 MHC class II deficiency 2 skos:exactMatch UMLS:C1859535 semapv:UnspecifiedMatching MONDO:0971014 MHC class II deficiency 3 skos:exactMatch MEDGEN:347175 semapv:UnspecifiedMatching MONDO:0971014 MHC class II deficiency 3 skos:exactMatch OMIM:620816 mhc class 2 deficiency 3 semapv:UnspecifiedMatching MONDO:0971014 MHC class II deficiency 3 skos:exactMatch UMLS:C1859536 semapv:UnspecifiedMatching MONDO:0971015 MHC class II deficiency 4 skos:exactMatch MEDGEN:347176 semapv:UnspecifiedMatching MONDO:0971015 MHC class II deficiency 4 skos:exactMatch OMIM:620817 mhc class 2 deficiency 4 semapv:UnspecifiedMatching MONDO:0971015 MHC class II deficiency 4 skos:exactMatch UMLS:C1859537 semapv:UnspecifiedMatching MONDO:0971016 MHC class II deficiency 5 skos:exactMatch MEDGEN:349183 semapv:UnspecifiedMatching MONDO:0971016 MHC class II deficiency 5 skos:exactMatch OMIM:620818 mhc class 2 deficiency 5 semapv:UnspecifiedMatching MONDO:0971016 MHC class II deficiency 5 skos:exactMatch UMLS:C1859538 semapv:UnspecifiedMatching MONDO:0971031 auto-brewery syndrome skos:exactMatch DOID:0081455 auto-brewery syndrome semapv:UnspecifiedMatching MONDO:0971031 auto-brewery syndrome skos:exactMatch MEDGEN:1853294 semapv:UnspecifiedMatching MONDO:0971031 auto-brewery syndrome skos:exactMatch UMLS:C4552195 semapv:UnspecifiedMatching MONDO:0971032 bladder fermentation syndrome skos:exactMatch DOID:0081456 bladder fermentation syndrome semapv:UnspecifiedMatching MONDO:0971033 intrathyroid thymic carcinoma skos:exactMatch DOID:0081457 intrathyroid thymic carcinoma semapv:UnspecifiedMatching MONDO:0971033 intrathyroid thymic carcinoma skos:exactMatch MEDGEN:316474 semapv:UnspecifiedMatching MONDO:0971033 intrathyroid thymic carcinoma skos:exactMatch UMLS:C1704613 semapv:UnspecifiedMatching MONDO:0971034 thyroid gland cribriform morular carcinoma skos:exactMatch DOID:0081458 thyroid gland cribriform morular carcinoma semapv:UnspecifiedMatching MONDO:0971034 thyroid gland cribriform morular carcinoma skos:exactMatch MEDGEN:927266 semapv:UnspecifiedMatching MONDO:0971034 thyroid gland cribriform morular carcinoma skos:exactMatch UMLS:C4289734 semapv:UnspecifiedMatching MONDO:0971035 thyroid gland mixed medullary and follicular cell-derived carcinoma skos:exactMatch DOID:0081459 thyroid gland mixed medullary and follicular cell-derived carcinoma semapv:UnspecifiedMatching MONDO:0971035 thyroid gland mixed medullary and follicular cell-derived carcinoma skos:exactMatch MEDGEN:1815194 semapv:UnspecifiedMatching MONDO:0971035 thyroid gland mixed medullary and follicular cell-derived carcinoma skos:exactMatch UMLS:C5706289 semapv:UnspecifiedMatching MONDO:0971036 thyroid gland mucinous carcinoma skos:exactMatch DOID:0081460 thyroid gland mucinous carcinoma semapv:UnspecifiedMatching MONDO:0971036 thyroid gland mucinous carcinoma skos:exactMatch MEDGEN:1661824 semapv:UnspecifiedMatching MONDO:0971036 thyroid gland mucinous carcinoma skos:exactMatch UMLS:C4744698 semapv:UnspecifiedMatching MONDO:0971043 neurodevelopmental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities skos:exactMatch MEDGEN:1857550 semapv:UnspecifiedMatching MONDO:0971043 neurodevelopmental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities skos:exactMatch OMIM:620852 neurodevelopmental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities semapv:UnspecifiedMatching MONDO:0971043 neurodevelopmental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities skos:exactMatch UMLS:C5935629 semapv:UnspecifiedMatching MONDO:0971044 Ehlers-Danlos syndrome, classic-like, 3 skos:exactMatch MEDGEN:1861383 semapv:UnspecifiedMatching MONDO:0971044 Ehlers-Danlos syndrome, classic-like, 3 skos:exactMatch OMIM:620865 ehlers-danlos syndrome, classic-like, 3 semapv:UnspecifiedMatching MONDO:0971044 Ehlers-Danlos syndrome, classic-like, 3 skos:exactMatch UMLS:C5935631 semapv:UnspecifiedMatching MONDO:0971047 PRC-2 complex-related overgrowth spectrum skos:exactMatch MEDGEN:1863739 semapv:UnspecifiedMatching MONDO:0971047 PRC-2 complex-related overgrowth spectrum skos:exactMatch Orphanet:659387 PRC-2 complex-related overgrowth spectrum semapv:UnspecifiedMatching MONDO:0971047 PRC-2 complex-related overgrowth spectrum skos:exactMatch UMLS:C5925135 semapv:UnspecifiedMatching MONDO:0971049 single isolated optic neuritis skos:exactMatch MEDGEN:1863952 semapv:UnspecifiedMatching MONDO:0971049 single isolated optic neuritis skos:exactMatch Orphanet:659626 Single isolated optic neuritis semapv:UnspecifiedMatching MONDO:0971049 single isolated optic neuritis skos:exactMatch UMLS:C5925137 semapv:UnspecifiedMatching MONDO:0971050 relapsing isolated optic neuritis skos:exactMatch MEDGEN:1863611 semapv:UnspecifiedMatching MONDO:0971050 relapsing isolated optic neuritis skos:exactMatch Orphanet:659634 Relapsing isolated optic neuritis semapv:UnspecifiedMatching MONDO:0971050 relapsing isolated optic neuritis skos:exactMatch UMLS:C5925139 semapv:UnspecifiedMatching MONDO:0971056 ocular surface squamous neoplasia skos:exactMatch MEDGEN:1787978 semapv:UnspecifiedMatching MONDO:0971056 ocular surface squamous neoplasia skos:exactMatch Orphanet:659744 Ocular surface squamous neoplasia semapv:UnspecifiedMatching MONDO:0971056 ocular surface squamous neoplasia skos:exactMatch UMLS:C4761284 semapv:UnspecifiedMatching MONDO:0971058 verruga peruana skos:exactMatch MEDGEN:21848 semapv:UnspecifiedMatching MONDO:0971058 verruga peruana skos:exactMatch Orphanet:659759 Verruga peruana semapv:UnspecifiedMatching MONDO:0971058 verruga peruana skos:exactMatch UMLS:C0042552 semapv:UnspecifiedMatching MONDO:0971058 verruga peruana skos:exactMatch icd11.foundation:1480386521 Verruga peruana semapv:UnspecifiedMatching MONDO:0971062 developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation skos:exactMatch MEDGEN:1863959 semapv:UnspecifiedMatching MONDO:0971062 developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation skos:exactMatch Orphanet:660012 Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation semapv:UnspecifiedMatching MONDO:0971062 developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation skos:exactMatch UMLS:C5925124 semapv:UnspecifiedMatching MONDO:0971063 autosomal dominant dopa-responsive dystonia skos:exactMatch Orphanet:98808 Autosomal dominant dopa-responsive dystonia semapv:UnspecifiedMatching MONDO:0971063 autosomal dominant dopa-responsive dystonia skos:exactMatch icd11.foundation:1143673207 Autosomal dominant dopa-responsive dystonia semapv:UnspecifiedMatching MONDO:0971064 orofacial clefting-cardiac anomalies-facial dysmorphism syndrome skos:exactMatch MEDGEN:1864391 semapv:UnspecifiedMatching MONDO:0971064 orofacial clefting-cardiac anomalies-facial dysmorphism syndrome skos:exactMatch Orphanet:660021 Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome semapv:UnspecifiedMatching MONDO:0971064 orofacial clefting-cardiac anomalies-facial dysmorphism syndrome skos:exactMatch UMLS:C5925125 semapv:UnspecifiedMatching MONDO:0971066 megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency skos:exactMatch MEDGEN:1863639 semapv:UnspecifiedMatching MONDO:0971066 megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency skos:exactMatch Orphanet:661412 Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency semapv:UnspecifiedMatching MONDO:0971066 megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency skos:exactMatch UMLS:C5925127 semapv:UnspecifiedMatching MONDO:0971068 Phelan-McDermid syndrome due to 22q13.3 deletion skos:exactMatch Orphanet:662169 Phelan-McDermid syndrome due to 22q13.3 deletion semapv:UnspecifiedMatching MONDO:0971069 Phelan-McDermid syndrome due to SHANK3 mutation skos:exactMatch MEDGEN:1864314 semapv:UnspecifiedMatching MONDO:0971069 Phelan-McDermid syndrome due to SHANK3 mutation skos:exactMatch Orphanet:662172 Phelan-McDermid syndrome due to SHANK3 mutation semapv:UnspecifiedMatching MONDO:0971069 Phelan-McDermid syndrome due to SHANK3 mutation skos:exactMatch UMLS:C5925128 semapv:UnspecifiedMatching MONDO:0971077 episodic memory defect leukoencephalopathy skos:exactMatch MEDGEN:1864129 semapv:UnspecifiedMatching MONDO:0971077 episodic memory defect leukoencephalopathy skos:exactMatch Orphanet:662229 Episodic memory defect leukoencephalopathy semapv:UnspecifiedMatching MONDO:0971077 episodic memory defect leukoencephalopathy skos:exactMatch UMLS:C5925071 semapv:UnspecifiedMatching MONDO:0971080 Grisel syndrome skos:exactMatch MEDGEN:538169 semapv:UnspecifiedMatching MONDO:0971080 Grisel syndrome skos:exactMatch Orphanet:662255 Grisel syndrome semapv:UnspecifiedMatching MONDO:0971080 Grisel syndrome skos:exactMatch UMLS:C0263885 semapv:UnspecifiedMatching MONDO:0971082 gastric duplication skos:exactMatch MEDGEN:539717 semapv:UnspecifiedMatching MONDO:0971082 gastric duplication skos:exactMatch Orphanet:662376 Isolated gastric duplication semapv:UnspecifiedMatching MONDO:0971082 gastric duplication skos:exactMatch UMLS:C0266148 semapv:UnspecifiedMatching MONDO:0971083 gallbladder duplication skos:exactMatch MEDGEN:539794 semapv:UnspecifiedMatching MONDO:0971083 gallbladder duplication skos:exactMatch Orphanet:662388 Isolated gallbladder duplication semapv:UnspecifiedMatching MONDO:0971083 gallbladder duplication skos:exactMatch UMLS:C0266250 semapv:UnspecifiedMatching MONDO:0971084 colonic duplication skos:exactMatch MEDGEN:539755 semapv:UnspecifiedMatching MONDO:0971084 colonic duplication skos:exactMatch Orphanet:662392 Isolated colonic duplication semapv:UnspecifiedMatching MONDO:0971084 colonic duplication skos:exactMatch UMLS:C0266202 semapv:UnspecifiedMatching MONDO:0971085 pyloric duplication skos:exactMatch MEDGEN:1876645 semapv:UnspecifiedMatching MONDO:0971085 pyloric duplication skos:exactMatch Orphanet:662405 Isolated pyloric duplication semapv:UnspecifiedMatching MONDO:0971085 pyloric duplication skos:exactMatch UMLS:C6012342 semapv:UnspecifiedMatching MONDO:0971086 small intestine duplication skos:exactMatch MEDGEN:576852 semapv:UnspecifiedMatching MONDO:0971086 small intestine duplication skos:exactMatch Orphanet:662456 Isolated small intestine duplication semapv:UnspecifiedMatching MONDO:0971086 small intestine duplication skos:exactMatch UMLS:C0345268 semapv:UnspecifiedMatching MONDO:0971089 vasa previa skos:exactMatch MEDGEN:75716 semapv:UnspecifiedMatching MONDO:0971089 vasa previa skos:exactMatch Orphanet:662786 Vasa previa semapv:UnspecifiedMatching MONDO:0971089 vasa previa skos:exactMatch UMLS:C0269852 semapv:UnspecifiedMatching MONDO:0971091 acute megakaryoblastic leukemia in adult skos:exactMatch MEDGEN:79016 semapv:UnspecifiedMatching MONDO:0971091 acute megakaryoblastic leukemia in adult skos:exactMatch Orphanet:662934 Acute megakaryoblastic leukemia in adult semapv:UnspecifiedMatching MONDO:0971091 acute megakaryoblastic leukemia in adult skos:exactMatch UMLS:C0279632 semapv:UnspecifiedMatching MONDO:0971092 soft and hard cleft palate skos:exactMatch Orphanet:664372 Soft and hard cleft palate semapv:UnspecifiedMatching MONDO:0971093 MGP-related spondyloepiphyseal dysplasia skos:exactMatch MEDGEN:1864357 semapv:UnspecifiedMatching MONDO:0971093 MGP-related spondyloepiphyseal dysplasia skos:exactMatch Orphanet:664377 MGP-related spondyloepiphyseal dysplasia semapv:UnspecifiedMatching MONDO:0971093 MGP-related spondyloepiphyseal dysplasia skos:exactMatch UMLS:C5925072 semapv:UnspecifiedMatching MONDO:0971094 cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation skos:exactMatch MEDGEN:1863549 semapv:UnspecifiedMatching MONDO:0971094 cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation skos:exactMatch Orphanet:664401 Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation semapv:UnspecifiedMatching MONDO:0971094 cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation skos:exactMatch UMLS:C5925073 semapv:UnspecifiedMatching MONDO:0971095 6q25.1 microdeletion syndrome skos:exactMatch MEDGEN:1864381 semapv:UnspecifiedMatching MONDO:0971095 6q25.1 microdeletion syndrome skos:exactMatch Orphanet:664404 6q25.1 microdeletion syndrome semapv:UnspecifiedMatching MONDO:0971095 6q25.1 microdeletion syndrome skos:exactMatch UMLS:C5925074 semapv:UnspecifiedMatching MONDO:0971103 Nicolau syndrome skos:exactMatch MEDGEN:810780 semapv:UnspecifiedMatching MONDO:0971103 Nicolau syndrome skos:exactMatch Orphanet:664787 Nicolau syndrome semapv:UnspecifiedMatching MONDO:0971103 Nicolau syndrome skos:exactMatch UMLS:C1142083 semapv:UnspecifiedMatching MONDO:0971105 neonatal renal venous thrombosis skos:exactMatch MEDGEN:1863518 semapv:UnspecifiedMatching MONDO:0971105 neonatal renal venous thrombosis skos:exactMatch Orphanet:664912 Neonatal renal venous thrombosis semapv:UnspecifiedMatching MONDO:0971105 neonatal renal venous thrombosis skos:exactMatch UMLS:C5925061 semapv:UnspecifiedMatching MONDO:0971107 common arterial trunk with aortic dominance skos:exactMatch MEDGEN:1622872 semapv:UnspecifiedMatching MONDO:0971107 common arterial trunk with aortic dominance skos:exactMatch Orphanet:665044 Common arterial trunk with aortic dominance semapv:UnspecifiedMatching MONDO:0971107 common arterial trunk with aortic dominance skos:exactMatch UMLS:C4546067 semapv:UnspecifiedMatching MONDO:0971107 common arterial trunk with aortic dominance skos:exactMatch icd11.foundation:551770382 Common arterial trunk with aortic dominance semapv:UnspecifiedMatching MONDO:0971108 common arterial trunk with pulmonary dominance and interrupted aortic arch skos:exactMatch MEDGEN:1612764 semapv:UnspecifiedMatching MONDO:0971108 common arterial trunk with pulmonary dominance and interrupted aortic arch skos:exactMatch Orphanet:665058 Common arterial trunk with pulmonary dominance and interrupted aortic arch semapv:UnspecifiedMatching MONDO:0971108 common arterial trunk with pulmonary dominance and interrupted aortic arch skos:exactMatch UMLS:C4546068 semapv:UnspecifiedMatching MONDO:0971108 common arterial trunk with pulmonary dominance and interrupted aortic arch skos:exactMatch icd11.foundation:97579611 Common arterial trunk with pulmonary dominance and interrupted aortic arch semapv:UnspecifiedMatching MONDO:0971109 isolated congenital femoral bifurcation skos:exactMatch MEDGEN:1875657 semapv:UnspecifiedMatching MONDO:0971109 isolated congenital femoral bifurcation skos:exactMatch Orphanet:667589 Isolated congenital femoral bifurcation semapv:UnspecifiedMatching MONDO:0971109 isolated congenital femoral bifurcation skos:exactMatch UMLS:C5925060 semapv:UnspecifiedMatching MONDO:0971111 intraoral basal cell carcinoma skos:exactMatch MEDGEN:1864187 semapv:UnspecifiedMatching MONDO:0971111 intraoral basal cell carcinoma skos:exactMatch Orphanet:667678 Intraoral basal cell carcinoma semapv:UnspecifiedMatching MONDO:0971111 intraoral basal cell carcinoma skos:exactMatch UMLS:C5925085 semapv:UnspecifiedMatching MONDO:0971115 benign vascular tumor skos:exactMatch MEDGEN:235124 semapv:UnspecifiedMatching MONDO:0971115 benign vascular tumor skos:exactMatch Orphanet:673470 Benign vascular tumor semapv:UnspecifiedMatching MONDO:0971115 benign vascular tumor skos:exactMatch UMLS:C1377916 semapv:UnspecifiedMatching MONDO:0971116 borderline vascular tumor skos:exactMatch MEDGEN:232657 semapv:UnspecifiedMatching MONDO:0971116 borderline vascular tumor skos:exactMatch Orphanet:673473 Borderline vascular tumor semapv:UnspecifiedMatching MONDO:0971116 borderline vascular tumor skos:exactMatch UMLS:C1334225 semapv:UnspecifiedMatching MONDO:0971118 pilocytic astrocytoma with histological features of anaplasia skos:exactMatch Orphanet:673585 Pilocytic astrocytoma with histological features of anaplasia semapv:UnspecifiedMatching MONDO:0971119 proteoglycan-related bone disorder skos:exactMatch MEDGEN:1863653 semapv:UnspecifiedMatching MONDO:0971119 proteoglycan-related bone disorder skos:exactMatch Orphanet:674499 Proteoglycan-related bone disorder semapv:UnspecifiedMatching MONDO:0971119 proteoglycan-related bone disorder skos:exactMatch UMLS:C5925088 semapv:UnspecifiedMatching MONDO:0971123 isolated retinal racemose hemangioma skos:exactMatch MEDGEN:1863667 semapv:UnspecifiedMatching MONDO:0971123 isolated retinal racemose hemangioma skos:exactMatch Orphanet:674924 Isolated retinal racemose hemangioma semapv:UnspecifiedMatching MONDO:0971123 isolated retinal racemose hemangioma skos:exactMatch UMLS:C5890449 semapv:UnspecifiedMatching MONDO:0971124 perifoveal exudative vascular anomalous complex skos:exactMatch MEDGEN:1863553 semapv:UnspecifiedMatching MONDO:0971124 perifoveal exudative vascular anomalous complex skos:exactMatch Orphanet:674930 Perifoveal exudative vascular anomalous complex semapv:UnspecifiedMatching MONDO:0971124 perifoveal exudative vascular anomalous complex skos:exactMatch UMLS:C5925081 semapv:UnspecifiedMatching MONDO:0971125 torpedo maculopathy skos:exactMatch MEDGEN:1863888 semapv:UnspecifiedMatching MONDO:0971125 torpedo maculopathy skos:exactMatch Orphanet:674935 Torpedo Maculopathy semapv:UnspecifiedMatching MONDO:0971125 torpedo maculopathy skos:exactMatch UMLS:C5891237 semapv:UnspecifiedMatching MONDO:0971126 isolated angioid streaks skos:exactMatch MEDGEN:1864217 semapv:UnspecifiedMatching MONDO:0971126 isolated angioid streaks skos:exactMatch Orphanet:674943 Isolated angioid streaks semapv:UnspecifiedMatching MONDO:0971126 isolated angioid streaks skos:exactMatch UMLS:C5925080 semapv:UnspecifiedMatching MONDO:0971127 diffuse unilateral subacute neuroretinitis skos:exactMatch MEDGEN:573129 semapv:UnspecifiedMatching MONDO:0971127 diffuse unilateral subacute neuroretinitis skos:exactMatch Orphanet:674947 Diffuse unilateral subacute neuroretinitis semapv:UnspecifiedMatching MONDO:0971127 diffuse unilateral subacute neuroretinitis skos:exactMatch UMLS:C0339404 semapv:UnspecifiedMatching MONDO:0971127 diffuse unilateral subacute neuroretinitis skos:exactMatch icd11.foundation:1362820694 Diffuse unilateral subacute neuroretinitis semapv:UnspecifiedMatching MONDO:0971128 multiple evanescent white dot syndrome skos:exactMatch MEDGEN:676519 semapv:UnspecifiedMatching MONDO:0971128 multiple evanescent white dot syndrome skos:exactMatch Orphanet:674953 Multiple evanescent white dot syndrome semapv:UnspecifiedMatching MONDO:0971128 multiple evanescent white dot syndrome skos:exactMatch UMLS:C0730322 semapv:UnspecifiedMatching MONDO:0971128 multiple evanescent white dot syndrome skos:exactMatch icd11.foundation:1817745681 Multiple Evanescent White Dot Syndrome semapv:UnspecifiedMatching MONDO:0971129 stellate multiform amelanotic choroidopathy skos:exactMatch MEDGEN:1864336 semapv:UnspecifiedMatching MONDO:0971129 stellate multiform amelanotic choroidopathy skos:exactMatch Orphanet:674958 Stellate multiform amelanotic choroidopathy semapv:UnspecifiedMatching MONDO:0971129 stellate multiform amelanotic choroidopathy skos:exactMatch UMLS:C5925082 semapv:UnspecifiedMatching MONDO:0971130 choroidal osteoma skos:exactMatch MEDGEN:1853292 semapv:UnspecifiedMatching MONDO:0971130 choroidal osteoma skos:exactMatch Orphanet:674965 Choroidal osteoma semapv:UnspecifiedMatching MONDO:0971130 choroidal osteoma skos:exactMatch UMLS:C5400362 semapv:UnspecifiedMatching MONDO:0971131 bilateral diffuse uveal melanocytic proliferation disease skos:exactMatch MEDGEN:705031 semapv:UnspecifiedMatching MONDO:0971131 bilateral diffuse uveal melanocytic proliferation disease skos:exactMatch Orphanet:674968 Bilateral diffuse uveal melanocytic proliferation disease semapv:UnspecifiedMatching MONDO:0971131 bilateral diffuse uveal melanocytic proliferation disease skos:exactMatch UMLS:C1282144 semapv:UnspecifiedMatching MONDO:0971133 isolated segmental infantile hemangioma skos:exactMatch MEDGEN:1863691 semapv:UnspecifiedMatching MONDO:0971133 isolated segmental infantile hemangioma skos:exactMatch Orphanet:675380 Isolated segmental infantile hemangioma semapv:UnspecifiedMatching MONDO:0971133 isolated segmental infantile hemangioma skos:exactMatch UMLS:C5925079 semapv:UnspecifiedMatching MONDO:0971137 severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome skos:exactMatch MEDGEN:1863736 semapv:UnspecifiedMatching MONDO:0971137 severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome skos:exactMatch Orphanet:675775 Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome semapv:UnspecifiedMatching MONDO:0971137 severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome skos:exactMatch UMLS:C5925096 semapv:UnspecifiedMatching MONDO:0971138 progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN skos:exactMatch MEDGEN:1863933 semapv:UnspecifiedMatching MONDO:0971138 progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN skos:exactMatch Orphanet:675782 Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN semapv:UnspecifiedMatching MONDO:0971138 progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN skos:exactMatch UMLS:C5925097 semapv:UnspecifiedMatching MONDO:0971140 well-differentiated papillary mesothelial tumour of the pleura skos:exactMatch MEDGEN:1863523 semapv:UnspecifiedMatching MONDO:0971140 well-differentiated papillary mesothelial tumour of the pleura skos:exactMatch Orphanet:675822 Well-differentiated papillary mesothelial tumour of the pleura semapv:UnspecifiedMatching MONDO:0971140 well-differentiated papillary mesothelial tumour of the pleura skos:exactMatch UMLS:C5925093 semapv:UnspecifiedMatching MONDO:0971141 localized pleural mesothelioma skos:exactMatch MEDGEN:1863756 semapv:UnspecifiedMatching MONDO:0971141 localized pleural mesothelioma skos:exactMatch Orphanet:675833 Localized pleural mesothelioma semapv:UnspecifiedMatching MONDO:0971141 localized pleural mesothelioma skos:exactMatch UMLS:C5925094 semapv:UnspecifiedMatching MONDO:0971142 diffused pleural mesothelioma skos:exactMatch MEDGEN:1863751 semapv:UnspecifiedMatching MONDO:0971142 diffused pleural mesothelioma skos:exactMatch Orphanet:675837 Diffused pleural mesothelioma semapv:UnspecifiedMatching MONDO:0971142 diffused pleural mesothelioma skos:exactMatch UMLS:C5925095 semapv:UnspecifiedMatching MONDO:0971143 pleural mesothelioma in situ skos:exactMatch MEDGEN:1805153 semapv:UnspecifiedMatching MONDO:0971143 pleural mesothelioma in situ skos:exactMatch Orphanet:675841 Pleural mesothelioma in situ semapv:UnspecifiedMatching MONDO:0971143 pleural mesothelioma in situ skos:exactMatch UMLS:C5668165 semapv:UnspecifiedMatching MONDO:0971145 peritoneal mesothelioma in situ skos:exactMatch MEDGEN:1864253 semapv:UnspecifiedMatching MONDO:0971145 peritoneal mesothelioma in situ skos:exactMatch Orphanet:676036 Peritoneal mesothelioma in situ semapv:UnspecifiedMatching MONDO:0971145 peritoneal mesothelioma in situ skos:exactMatch UMLS:C5925102 semapv:UnspecifiedMatching MONDO:0971149 spastic paraplegia 30B, autosomal recessive skos:exactMatch DOID:0070646 hereditary spastic paraplegia 30B semapv:UnspecifiedMatching MONDO:0971149 spastic paraplegia 30B, autosomal recessive skos:exactMatch MEDGEN:1854426 semapv:UnspecifiedMatching MONDO:0971149 spastic paraplegia 30B, autosomal recessive skos:exactMatch OMIM:620607 spastic paraplegia 30b, autosomal recessive semapv:UnspecifiedMatching MONDO:0971149 spastic paraplegia 30B, autosomal recessive skos:exactMatch UMLS:C5935571 semapv:UnspecifiedMatching MONDO:0971150 neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity skos:exactMatch MEDGEN:1856205 semapv:UnspecifiedMatching MONDO:0971150 neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity skos:exactMatch OMIM:620854 neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity semapv:UnspecifiedMatching MONDO:0971150 neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity skos:exactMatch UMLS:C5935630 semapv:UnspecifiedMatching MONDO:0971151 immunodeficiency 122 skos:exactMatch DOID:0061088 immunodeficiency 122 semapv:UnspecifiedMatching MONDO:0971151 immunodeficiency 122 skos:exactMatch MEDGEN:1860800 semapv:UnspecifiedMatching MONDO:0971151 immunodeficiency 122 skos:exactMatch OMIM:620869 immunodeficiency 122 semapv:UnspecifiedMatching MONDO:0971151 immunodeficiency 122 skos:exactMatch UMLS:C5935632 semapv:UnspecifiedMatching MONDO:0971152 hearing loss, autosomal recessive 125 skos:exactMatch DOID:0061124 autosomal recessive nonsyndromic deafness 125 semapv:UnspecifiedMatching MONDO:0971152 hearing loss, autosomal recessive 125 skos:exactMatch MEDGEN:1861028 semapv:UnspecifiedMatching MONDO:0971152 hearing loss, autosomal recessive 125 skos:exactMatch OMIM:620877 deafness, autosomal recessive 125 semapv:UnspecifiedMatching MONDO:0971152 hearing loss, autosomal recessive 125 skos:exactMatch UMLS:C5935633 semapv:UnspecifiedMatching MONDO:0971154 hepatic cutaneous porphyria skos:exactMatch Orphanet:659698 Hepatic cutaneous porphyria semapv:UnspecifiedMatching MONDO:0971170 prostate cancer, hereditary, X-linked 3 skos:exactMatch MEDGEN:1861605 semapv:UnspecifiedMatching MONDO:0971170 prostate cancer, hereditary, X-linked 3 skos:exactMatch OMIM:301120 prostate cancer, hereditary, X-linked 3 semapv:UnspecifiedMatching MONDO:0971170 prostate cancer, hereditary, X-linked 3 skos:exactMatch UMLS:C5935569 semapv:UnspecifiedMatching MONDO:0971171 muscular dystrophy, limb-girdle, autosomal recessive 29 skos:exactMatch DOID:0061134 autosomal recessive limb-girdle muscular dystrophy type 29 semapv:UnspecifiedMatching MONDO:0971171 muscular dystrophy, limb-girdle, autosomal recessive 29 skos:exactMatch MEDGEN:1861320 semapv:UnspecifiedMatching MONDO:0971171 muscular dystrophy, limb-girdle, autosomal recessive 29 skos:exactMatch OMIM:620793 muscular dystrophy, limb-girdle, autosomal recessive 29 semapv:UnspecifiedMatching MONDO:0971171 muscular dystrophy, limb-girdle, autosomal recessive 29 skos:exactMatch UMLS:C5935611 semapv:UnspecifiedMatching MONDO:0971172 neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language skos:exactMatch DOID:0061190 ReNU syndrome semapv:UnspecifiedMatching MONDO:0971172 neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language skos:exactMatch MEDGEN:1854654 semapv:UnspecifiedMatching MONDO:0971172 neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language skos:exactMatch OMIM:620851 RENU syndrome semapv:UnspecifiedMatching MONDO:0971172 neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language skos:exactMatch Orphanet:686488 RNU4-2-related neurodevelopmental disorder-facial dysmorphism-white matter abnormalities-short stature syndrome semapv:UnspecifiedMatching MONDO:0971172 neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language skos:exactMatch UMLS:C5935628 semapv:UnspecifiedMatching MONDO:0971173 autoinflammation with arthritis and vasculitis skos:exactMatch MEDGEN:1855512 semapv:UnspecifiedMatching MONDO:0971173 autoinflammation with arthritis and vasculitis skos:exactMatch OMIM:620880 autoinflammation with arthritis and vasculitis semapv:UnspecifiedMatching MONDO:0971173 autoinflammation with arthritis and vasculitis skos:exactMatch UMLS:C5935634 semapv:UnspecifiedMatching MONDO:0971174 multiple mitochondrial dysfunctions syndrome 9b skos:exactMatch MEDGEN:1860851 semapv:UnspecifiedMatching MONDO:0971174 multiple mitochondrial dysfunctions syndrome 9b skos:exactMatch OMIM:620887 multiple mitochondrial dysfunctions syndrome 9b semapv:UnspecifiedMatching MONDO:0971174 multiple mitochondrial dysfunctions syndrome 9b skos:exactMatch UMLS:C5935635 semapv:UnspecifiedMatching MONDO:0971175 cardiomyopathy, dilated, 2K skos:exactMatch MEDGEN:1861075 semapv:UnspecifiedMatching MONDO:0971175 cardiomyopathy, dilated, 2K skos:exactMatch OMIM:620894 cardiomyopathy, dilated, 2k semapv:UnspecifiedMatching MONDO:0971175 cardiomyopathy, dilated, 2K skos:exactMatch UMLS:C5935636 semapv:UnspecifiedMatching MONDO:0971176 ovarian dysgenesis 11 skos:exactMatch MEDGEN:1856331 semapv:UnspecifiedMatching MONDO:0971176 ovarian dysgenesis 11 skos:exactMatch OMIM:620897 ovarian dysgenesis 11 semapv:UnspecifiedMatching MONDO:0971176 ovarian dysgenesis 11 skos:exactMatch UMLS:C5935637 semapv:UnspecifiedMatching MONDO:0971177 immunodeficiency 123 with HPV-related verrucosis skos:exactMatch DOID:0061089 immunodeficiency 123 semapv:UnspecifiedMatching MONDO:0971177 immunodeficiency 123 with HPV-related verrucosis skos:exactMatch MEDGEN:1855052 semapv:UnspecifiedMatching MONDO:0971177 immunodeficiency 123 with HPV-related verrucosis skos:exactMatch OMIM:620901 immunodeficiency 123 with hpv-related verrucosis semapv:UnspecifiedMatching MONDO:0971177 immunodeficiency 123 with HPV-related verrucosis skos:exactMatch UMLS:C5935639 semapv:UnspecifiedMatching MONDO:0971178 polycystic kidney disease 8 skos:exactMatch MEDGEN:1854762 semapv:UnspecifiedMatching MONDO:0971178 polycystic kidney disease 8 skos:exactMatch OMIM:620903 polycystic kidney disease 8 semapv:UnspecifiedMatching MONDO:0971178 polycystic kidney disease 8 skos:exactMatch UMLS:C5935640 semapv:UnspecifiedMatching MONDO:0971179 arterial tortuosity-bone fragility syndrome skos:exactMatch MEDGEN:1855920 semapv:UnspecifiedMatching MONDO:0971179 arterial tortuosity-bone fragility syndrome skos:exactMatch OMIM:620908 arterial tortuosity-bone fragility syndrome semapv:UnspecifiedMatching MONDO:0971179 arterial tortuosity-bone fragility syndrome skos:exactMatch UMLS:C5935641 semapv:UnspecifiedMatching MONDO:0975705 otofacial neurodevelopmental syndrome skos:exactMatch MEDGEN:1857968 semapv:UnspecifiedMatching MONDO:0975705 otofacial neurodevelopmental syndrome skos:exactMatch OMIM:620910 otofacial neurodevelopmental syndrome semapv:UnspecifiedMatching MONDO:0975705 otofacial neurodevelopmental syndrome skos:exactMatch UMLS:C5935642 semapv:UnspecifiedMatching MONDO:0975708 dialysis disequilibrium syndrome skos:exactMatch DOID:0070564 dialysis disequilibrium syndrome semapv:UnspecifiedMatching MONDO:0975745 neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1 skos:exactMatch MEDGEN:1874870 semapv:UnspecifiedMatching MONDO:0975745 neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1 skos:exactMatch OMIM:620888 neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1 semapv:UnspecifiedMatching MONDO:0975745 neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1 skos:exactMatch UMLS:C5975340 semapv:UnspecifiedMatching MONDO:0975746 spastic paraplegia 92, autosomal recessive skos:exactMatch DOID:0070644 hereditary spastic paraplegia 92 semapv:UnspecifiedMatching MONDO:0975746 spastic paraplegia 92, autosomal recessive skos:exactMatch MEDGEN:1874876 semapv:UnspecifiedMatching MONDO:0975746 spastic paraplegia 92, autosomal recessive skos:exactMatch OMIM:620911 spastic paraplegia 92, autosomal recessive semapv:UnspecifiedMatching MONDO:0975746 spastic paraplegia 92, autosomal recessive skos:exactMatch UMLS:C5975346 semapv:UnspecifiedMatching MONDO:0975747 spermatogenic failure 95 skos:exactMatch DOID:0070594 spermatogenic failure 95 semapv:UnspecifiedMatching MONDO:0975747 spermatogenic failure 95 skos:exactMatch MEDGEN:1874877 semapv:UnspecifiedMatching MONDO:0975747 spermatogenic failure 95 skos:exactMatch OMIM:620917 spermatogenic failure 95 semapv:UnspecifiedMatching MONDO:0975747 spermatogenic failure 95 skos:exactMatch UMLS:C5975347 semapv:UnspecifiedMatching MONDO:0975748 Parkinson disease 26, autosomal dominant, susceptibility to skos:exactMatch MEDGEN:1874879 semapv:UnspecifiedMatching MONDO:0975748 Parkinson disease 26, autosomal dominant, susceptibility to skos:exactMatch OMIM:620923 parkinson disease 26, autosomal dominant, susceptibility to semapv:UnspecifiedMatching MONDO:0975748 Parkinson disease 26, autosomal dominant, susceptibility to skos:exactMatch UMLS:C5975349 semapv:UnspecifiedMatching MONDO:0975749 immunodeficiency 125 skos:exactMatch DOID:0061091 immunodeficiency 125 semapv:UnspecifiedMatching MONDO:0975749 immunodeficiency 125 skos:exactMatch MEDGEN:1874883 semapv:UnspecifiedMatching MONDO:0975749 immunodeficiency 125 skos:exactMatch OMIM:620926 immunodeficiency 125 semapv:UnspecifiedMatching MONDO:0975749 immunodeficiency 125 skos:exactMatch UMLS:C5975353 semapv:UnspecifiedMatching MONDO:0975751 brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation skos:exactMatch MEDGEN:1863635 semapv:UnspecifiedMatching MONDO:0975751 brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation skos:exactMatch Orphanet:664416 Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation semapv:UnspecifiedMatching MONDO:0975751 brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation skos:exactMatch UMLS:C5925059 semapv:UnspecifiedMatching MONDO:0975752 littoral cell hemangioma of the spleen skos:exactMatch Orphanet:673538 Littoral cell hemangioma of the spleen semapv:UnspecifiedMatching MONDO:0975753 papillary hemangioma skos:exactMatch MEDGEN:1864329 semapv:UnspecifiedMatching MONDO:0975753 papillary hemangioma skos:exactMatch Orphanet:673543 Papillary hemangioma semapv:UnspecifiedMatching MONDO:0975753 papillary hemangioma skos:exactMatch UMLS:C5925092 semapv:UnspecifiedMatching MONDO:0975754 pseudomyogenic hemangioendothelioma skos:exactMatch MEDGEN:826097 semapv:UnspecifiedMatching MONDO:0975754 pseudomyogenic hemangioendothelioma skos:exactMatch Orphanet:673556 Pseudomyogenic hemangioendothelioma semapv:UnspecifiedMatching MONDO:0975754 pseudomyogenic hemangioendothelioma skos:exactMatch UMLS:C3840252 semapv:UnspecifiedMatching MONDO:0975755 eccrine angiomatous hamartoma skos:exactMatch MEDGEN:98361 semapv:UnspecifiedMatching MONDO:0975755 eccrine angiomatous hamartoma skos:exactMatch Orphanet:673568 Eccrine angiomatous hamartoma semapv:UnspecifiedMatching MONDO:0975755 eccrine angiomatous hamartoma skos:exactMatch UMLS:C0406801 semapv:UnspecifiedMatching MONDO:0975755 eccrine angiomatous hamartoma skos:exactMatch icd11.foundation:541084000 Eccrine angiomatous hamartoma semapv:UnspecifiedMatching MONDO:0975756 reactive angioendotheliomatosis skos:exactMatch MEDGEN:418935 semapv:UnspecifiedMatching MONDO:0975756 reactive angioendotheliomatosis skos:exactMatch Orphanet:673574 Reactive angioendotheliomatosis semapv:UnspecifiedMatching MONDO:0975756 reactive angioendotheliomatosis skos:exactMatch UMLS:C2930870 semapv:UnspecifiedMatching MONDO:0975757 anastomosing haemangioma skos:exactMatch MEDGEN:1385828 semapv:UnspecifiedMatching MONDO:0975757 anastomosing haemangioma skos:exactMatch Orphanet:675359 Anastomosing haemangioma semapv:UnspecifiedMatching MONDO:0975757 anastomosing haemangioma skos:exactMatch UMLS:C4329301 semapv:UnspecifiedMatching MONDO:0975758 microvenular haemangioma skos:exactMatch MEDGEN:725856 semapv:UnspecifiedMatching MONDO:0975758 microvenular haemangioma skos:exactMatch Orphanet:675369 Microvenular haemangioma semapv:UnspecifiedMatching MONDO:0975758 microvenular haemangioma skos:exactMatch UMLS:C1304506 semapv:UnspecifiedMatching MONDO:0975758 microvenular haemangioma skos:exactMatch icd11.foundation:1766508726 Microvenular haemangioma semapv:UnspecifiedMatching MONDO:0975759 acquired elastotic haemangioma skos:exactMatch MEDGEN:1864020 semapv:UnspecifiedMatching MONDO:0975759 acquired elastotic haemangioma skos:exactMatch Orphanet:675597 Acquired elastotic haemangioma semapv:UnspecifiedMatching MONDO:0975759 acquired elastotic haemangioma skos:exactMatch UMLS:C5925084 semapv:UnspecifiedMatching MONDO:0975759 acquired elastotic haemangioma skos:exactMatch icd11.foundation:1009548311 Acquired elastotic haemangioma semapv:UnspecifiedMatching MONDO:0975761 immunodeficiency 126, susceptibility to skos:exactMatch MEDGEN:1874892 semapv:UnspecifiedMatching MONDO:0975761 immunodeficiency 126, susceptibility to skos:exactMatch OMIM:620931 immunodeficiency 126, susceptibility to semapv:UnspecifiedMatching MONDO:0975761 immunodeficiency 126, susceptibility to skos:exactMatch UMLS:C5975362 semapv:UnspecifiedMatching MONDO:0975795 Kariminejad neurodevelopmental syndrome skos:exactMatch DOID:0061158 Kariminejad neurodevelopmental syndrome semapv:UnspecifiedMatching MONDO:0975795 Kariminejad neurodevelopmental syndrome skos:exactMatch MEDGEN:1874901 semapv:UnspecifiedMatching MONDO:0975795 Kariminejad neurodevelopmental syndrome skos:exactMatch OMIM:620937 kariminejad neurodevelopmental syndrome semapv:UnspecifiedMatching MONDO:0975795 Kariminejad neurodevelopmental syndrome skos:exactMatch UMLS:C5975371 semapv:UnspecifiedMatching MONDO:0975796 spastic paraplegia 93, autosomal recessive skos:exactMatch DOID:0070645 hereditary spastic paraplegia 93 semapv:UnspecifiedMatching MONDO:0975796 spastic paraplegia 93, autosomal recessive skos:exactMatch MEDGEN:1874905 semapv:UnspecifiedMatching MONDO:0975796 spastic paraplegia 93, autosomal recessive skos:exactMatch OMIM:620938 spastic paraplegia 93, autosomal recessive semapv:UnspecifiedMatching MONDO:0975796 spastic paraplegia 93, autosomal recessive skos:exactMatch UMLS:C5975375 semapv:UnspecifiedMatching MONDO:0975797 myelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalities skos:exactMatch MEDGEN:1874910 semapv:UnspecifiedMatching MONDO:0975797 myelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalities skos:exactMatch OMIM:620939 myelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalities semapv:UnspecifiedMatching MONDO:0975797 myelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalities skos:exactMatch UMLS:C5975380 semapv:UnspecifiedMatching MONDO:0975798 methylmalonic aciduria and homocystinuria, cb1L type skos:exactMatch MEDGEN:1874917 semapv:UnspecifiedMatching MONDO:0975798 methylmalonic aciduria and homocystinuria, cb1L type skos:exactMatch OMIM:620940 methylmalonic aciduria and homocystinuria, cbll type semapv:UnspecifiedMatching MONDO:0975798 methylmalonic aciduria and homocystinuria, cb1L type skos:exactMatch UMLS:C5975387 semapv:UnspecifiedMatching MONDO:0975799 brain malformation renal syndrome skos:exactMatch MEDGEN:1874920 semapv:UnspecifiedMatching MONDO:0975799 brain malformation renal syndrome skos:exactMatch OMIM:620943 brain malformation renal syndrome semapv:UnspecifiedMatching MONDO:0975799 brain malformation renal syndrome skos:exactMatch UMLS:C5975390 semapv:UnspecifiedMatching MONDO:0975800 spinocerebellar ataxia 51 skos:exactMatch MEDGEN:1874924 semapv:UnspecifiedMatching MONDO:0975800 spinocerebellar ataxia 51 skos:exactMatch OMIM:620947 spinocerebellar ataxia 51 semapv:UnspecifiedMatching MONDO:0975800 spinocerebellar ataxia 51 skos:exactMatch UMLS:C5975394 semapv:UnspecifiedMatching MONDO:0975801 encephalopathy, acute transient skos:exactMatch MEDGEN:1874927 semapv:UnspecifiedMatching MONDO:0975801 encephalopathy, acute transient skos:exactMatch OMIM:620950 encephalopathy, acute transient semapv:UnspecifiedMatching MONDO:0975801 encephalopathy, acute transient skos:exactMatch UMLS:C5975397 semapv:UnspecifiedMatching MONDO:0975805 foveal hypoplasia 3 skos:exactMatch MEDGEN:1874935 semapv:UnspecifiedMatching MONDO:0975805 foveal hypoplasia 3 skos:exactMatch OMIM:620958 foveal hypoplasia 3 semapv:UnspecifiedMatching MONDO:0975805 foveal hypoplasia 3 skos:exactMatch UMLS:C5975405 semapv:UnspecifiedMatching MONDO:0975806 multiple mitochondrial dysfunctions syndrome 10 skos:exactMatch MEDGEN:1874943 semapv:UnspecifiedMatching MONDO:0975806 multiple mitochondrial dysfunctions syndrome 10 skos:exactMatch OMIM:620960 multiple mitochondrial dysfunctions syndrome 10 semapv:UnspecifiedMatching MONDO:0975806 multiple mitochondrial dysfunctions syndrome 10 skos:exactMatch UMLS:C5975413 semapv:UnspecifiedMatching MONDO:0975807 cholestasis, progressive familial intrahepatic, 13 skos:exactMatch MEDGEN:1874952 semapv:UnspecifiedMatching MONDO:0975807 cholestasis, progressive familial intrahepatic, 13 skos:exactMatch OMIM:620962 cholestasis, progressive familial intrahepatic, 13 semapv:UnspecifiedMatching MONDO:0975807 cholestasis, progressive familial intrahepatic, 13 skos:exactMatch UMLS:C5975422 semapv:UnspecifiedMatching MONDO:0975808 congenital myopathy 25 skos:exactMatch MEDGEN:1874962 semapv:UnspecifiedMatching MONDO:0975808 congenital myopathy 25 skos:exactMatch OMIM:620964 congenital myopathy 25 semapv:UnspecifiedMatching MONDO:0975808 congenital myopathy 25 skos:exactMatch UMLS:C5975432 semapv:UnspecifiedMatching MONDO:0975809 microphthalmia/coloboma 13 skos:exactMatch MEDGEN:1874966 semapv:UnspecifiedMatching MONDO:0975809 microphthalmia/coloboma 13 skos:exactMatch OMIM:620968 microphthalmia/coloboma 13 semapv:UnspecifiedMatching MONDO:0975809 microphthalmia/coloboma 13 skos:exactMatch UMLS:C5975436 semapv:UnspecifiedMatching MONDO:0975810 short stature with nonspecific skeletal abnormalities skos:exactMatch MEDGEN:906874 semapv:UnspecifiedMatching MONDO:0975810 short stature with nonspecific skeletal abnormalities skos:exactMatch OMIMPS:616255 Short stature with nonspecific skeletal abnormalities semapv:UnspecifiedMatching MONDO:0975810 short stature with nonspecific skeletal abnormalities skos:exactMatch UMLS:C4225399 semapv:UnspecifiedMatching MONDO:0975826 arthrogryposis multiplex congenita 7, X-linked skos:exactMatch MEDGEN:1874402 semapv:UnspecifiedMatching MONDO:0975826 arthrogryposis multiplex congenita 7, X-linked skos:exactMatch OMIM:301127 arthrogryposis multiplex congenita 7, X-linked semapv:UnspecifiedMatching MONDO:0975826 arthrogryposis multiplex congenita 7, X-linked skos:exactMatch UMLS:C5974872 semapv:UnspecifiedMatching MONDO:0975827 orofaciodigital syndrome 21 skos:exactMatch MEDGEN:1874405 semapv:UnspecifiedMatching MONDO:0975827 orofaciodigital syndrome 21 skos:exactMatch OMIM:301132 orofaciodigital syndrome 21 semapv:UnspecifiedMatching MONDO:0975827 orofaciodigital syndrome 21 skos:exactMatch UMLS:C5974875 semapv:UnspecifiedMatching MONDO:0975828 intellectual developmental disorder, X-linked 114 skos:exactMatch MEDGEN:1874421 semapv:UnspecifiedMatching MONDO:0975828 intellectual developmental disorder, X-linked 114 skos:exactMatch OMIM:301134 intellectual developmental disorder, X-linked 114 semapv:UnspecifiedMatching MONDO:0975828 intellectual developmental disorder, X-linked 114 skos:exactMatch UMLS:C5974891 semapv:UnspecifiedMatching MONDO:0975829 anemia, congenital dyserythropoietic, type IVb skos:exactMatch DOID:0051002 congenital dyserythropoietic anemia type IVb semapv:UnspecifiedMatching MONDO:0975829 anemia, congenital dyserythropoietic, type IVb skos:exactMatch MEDGEN:1874968 semapv:UnspecifiedMatching MONDO:0975829 anemia, congenital dyserythropoietic, type IVb skos:exactMatch OMIM:620969 anemia, congenital dyserythropoietic, type ivb semapv:UnspecifiedMatching MONDO:0975829 anemia, congenital dyserythropoietic, type IVb skos:exactMatch UMLS:C5975438 semapv:UnspecifiedMatching MONDO:0975830 myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2 skos:exactMatch DOID:0061184 myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2 semapv:UnspecifiedMatching MONDO:0975830 myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2 skos:exactMatch MEDGEN:1874979 semapv:UnspecifiedMatching MONDO:0975830 myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2 skos:exactMatch OMIM:620971 myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2 semapv:UnspecifiedMatching MONDO:0975830 myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2 skos:exactMatch UMLS:C5975449 semapv:UnspecifiedMatching MONDO:0975832 immunodeficiency 127 skos:exactMatch DOID:0061092 immunodeficiency 127 semapv:UnspecifiedMatching MONDO:0975832 immunodeficiency 127 skos:exactMatch MEDGEN:1874984 semapv:UnspecifiedMatching MONDO:0975832 immunodeficiency 127 skos:exactMatch OMIM:620977 immunodeficiency 127 semapv:UnspecifiedMatching MONDO:0975832 immunodeficiency 127 skos:exactMatch UMLS:C5975454 semapv:UnspecifiedMatching MONDO:0975833 leukodystrophy, hypomyelinating, 28 skos:exactMatch MEDGEN:1874990 semapv:UnspecifiedMatching MONDO:0975833 leukodystrophy, hypomyelinating, 28 skos:exactMatch OMIM:620978 leukodystrophy, hypomyelinating, 28 semapv:UnspecifiedMatching MONDO:0975833 leukodystrophy, hypomyelinating, 28 skos:exactMatch UMLS:C5975460 semapv:UnspecifiedMatching MONDO:0975834 immunodeficiency 128 skos:exactMatch DOID:0061093 immunodeficiency 128 semapv:UnspecifiedMatching MONDO:0975834 immunodeficiency 128 skos:exactMatch MEDGEN:1874993 semapv:UnspecifiedMatching MONDO:0975834 immunodeficiency 128 skos:exactMatch OMIM:620983 immunodeficiency 128 semapv:UnspecifiedMatching MONDO:0975834 immunodeficiency 128 skos:exactMatch UMLS:C5975463 semapv:UnspecifiedMatching MONDO:0975835 bronchiectasis and nasal polyposis skos:exactMatch MEDGEN:1874999 semapv:UnspecifiedMatching MONDO:0975835 bronchiectasis and nasal polyposis skos:exactMatch OMIM:620984 bronchiectasis and nasal polyposis semapv:UnspecifiedMatching MONDO:0975835 bronchiectasis and nasal polyposis skos:exactMatch UMLS:C5975469 semapv:UnspecifiedMatching MONDO:0975836 Karayol-Borroto-Haghshenas neurodevelopmental syndrome skos:exactMatch MEDGEN:1875006 semapv:UnspecifiedMatching MONDO:0975836 Karayol-Borroto-Haghshenas neurodevelopmental syndrome skos:exactMatch OMIM:620985 karayol-borroto-haghshenas neurodevelopmental syndrome semapv:UnspecifiedMatching MONDO:0975836 Karayol-Borroto-Haghshenas neurodevelopmental syndrome skos:exactMatch UMLS:C5975476 semapv:UnspecifiedMatching MONDO:0975837 neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities skos:exactMatch MEDGEN:1875007 semapv:UnspecifiedMatching MONDO:0975837 neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities skos:exactMatch OMIM:620987 neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities semapv:UnspecifiedMatching MONDO:0975837 neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities skos:exactMatch UMLS:C5975477 semapv:UnspecifiedMatching MONDO:0975838 intellectual developmental disorder, autosomal dominant 75 skos:exactMatch DOID:0061048 autosomal dominant intellectual developmental disorder 75 semapv:UnspecifiedMatching MONDO:0975838 intellectual developmental disorder, autosomal dominant 75 skos:exactMatch MEDGEN:1875012 semapv:UnspecifiedMatching MONDO:0975838 intellectual developmental disorder, autosomal dominant 75 skos:exactMatch OMIM:620988 intellectual developmental disorder, autosomal dominant 75 semapv:UnspecifiedMatching MONDO:0975838 intellectual developmental disorder, autosomal dominant 75 skos:exactMatch UMLS:C5975482 semapv:UnspecifiedMatching MONDO:0975839 pancreatic agenesis 3 skos:exactMatch MEDGEN:1875019 semapv:UnspecifiedMatching MONDO:0975839 pancreatic agenesis 3 skos:exactMatch OMIM:620991 pancreatic agenesis 3 semapv:UnspecifiedMatching MONDO:0975839 pancreatic agenesis 3 skos:exactMatch UMLS:C5975489 semapv:UnspecifiedMatching MONDO:0975840 retinitis pigmentosa 98 skos:exactMatch DOID:0061109 retinitis pigmentosa 98 semapv:UnspecifiedMatching MONDO:0975840 retinitis pigmentosa 98 skos:exactMatch MEDGEN:1875025 semapv:UnspecifiedMatching MONDO:0975840 retinitis pigmentosa 98 skos:exactMatch OMIM:620996 retinitis pigmentosa 98 semapv:UnspecifiedMatching MONDO:0975840 retinitis pigmentosa 98 skos:exactMatch UMLS:C5975495 semapv:UnspecifiedMatching MONDO:0975841 fibromatosis, gingival, 6 skos:exactMatch MEDGEN:1875031 semapv:UnspecifiedMatching MONDO:0975841 fibromatosis, gingival, 6 skos:exactMatch OMIM:620999 fibromatosis, gingival, 6 semapv:UnspecifiedMatching MONDO:0975841 fibromatosis, gingival, 6 skos:exactMatch UMLS:C5975501 semapv:UnspecifiedMatching MONDO:0975842 spermatogenic failure 96 skos:exactMatch MEDGEN:1875033 semapv:UnspecifiedMatching MONDO:0975842 spermatogenic failure 96 skos:exactMatch OMIM:621001 spermatogenic failure 96 semapv:UnspecifiedMatching MONDO:0975842 spermatogenic failure 96 skos:exactMatch UMLS:C5975503 semapv:UnspecifiedMatching MONDO:0975843 premature ovarian failure 25 skos:exactMatch MEDGEN:1875040 semapv:UnspecifiedMatching MONDO:0975843 premature ovarian failure 25 skos:exactMatch OMIM:621002 premature ovarian failure 25 semapv:UnspecifiedMatching MONDO:0975843 premature ovarian failure 25 skos:exactMatch UMLS:C5975510 semapv:UnspecifiedMatching MONDO:0975846 congenital disorder of glycosylation, type 1DD skos:exactMatch MEDGEN:1874417 semapv:UnspecifiedMatching MONDO:0975846 congenital disorder of glycosylation, type 1DD skos:exactMatch OMIM:301133 congenital disorder of glycosylation, type 1dd semapv:UnspecifiedMatching MONDO:0975846 congenital disorder of glycosylation, type 1DD skos:exactMatch UMLS:C5974887 semapv:UnspecifiedMatching MONDO:0975847 autoimmune disease with susceptibility to mycobacterium tuberculosis skos:exactMatch DOID:0061163 infantile onset multisystem autoimmune disease 4 semapv:UnspecifiedMatching MONDO:0975847 autoimmune disease with susceptibility to mycobacterium tuberculosis skos:exactMatch MEDGEN:1875045 semapv:UnspecifiedMatching MONDO:0975847 autoimmune disease with susceptibility to mycobacterium tuberculosis skos:exactMatch OMIM:621004 autoimmune disease, multisystem, infantile-onset, 4 semapv:UnspecifiedMatching MONDO:0975847 autoimmune disease with susceptibility to mycobacterium tuberculosis skos:exactMatch UMLS:C5975515 semapv:UnspecifiedMatching MONDO:0975848 Morimoto-Ryu-Malicdan neuromuscular syndrome skos:exactMatch MEDGEN:1875051 semapv:UnspecifiedMatching MONDO:0975848 Morimoto-Ryu-Malicdan neuromuscular syndrome skos:exactMatch OMIM:621010 morimoto-ryu-malicdan neuromuscular syndrome semapv:UnspecifiedMatching MONDO:0975848 Morimoto-Ryu-Malicdan neuromuscular syndrome skos:exactMatch UMLS:C5975521 semapv:UnspecifiedMatching MONDO:0975862 B-lymphoblastic leukemia with MEF2D rearrangement skos:exactMatch DOID:0070623 B-lymphoblastic leukemia with MEF2D rearrangement semapv:UnspecifiedMatching MONDO:0975863 B-lymphoblastic leukemia with MYC rearrangement skos:exactMatch DOID:0070624 B-lymphoblastic leukemia with MYC rearrangement semapv:UnspecifiedMatching MONDO:0975864 B-lymphoblastic leukemia with NUTM1 rearrangement skos:exactMatch DOID:0070625 B-lymphoblastic leukemia with NUTM1 rearrangement semapv:UnspecifiedMatching MONDO:0975865 B-lymphoblastic leukemia with PAX5alt skos:exactMatch DOID:0070626 B-lymphoblastic leukemia with PAX5alt semapv:UnspecifiedMatching MONDO:0975866 B-lymphoblastic leukemia with TCF3-HLF fusion skos:exactMatch DOID:0070627 B-lymphoblastic leukemia with TCF3-HLF fusion semapv:UnspecifiedMatching MONDO:0975867 B-lymphoblastic leukemia with ZNF384 rearrangement skos:exactMatch DOID:0070628 B-lymphoblastic leukemia with ZNF384 rearrangement semapv:UnspecifiedMatching MONDO:0975868 acute myeloid leukemia with CBFA2T3-GLIS2 fusion skos:exactMatch DOID:0070629 acute myeloid leukemia with CBFA2T3-GLIS2 fusion semapv:UnspecifiedMatching MONDO:0975870 acute myeloid leukemia with FUS-ERG fusion skos:exactMatch DOID:0070631 acute myeloid leukemia with FUS-ERG fusion semapv:UnspecifiedMatching MONDO:0975870 acute myeloid leukemia with FUS-ERG fusion skos:exactMatch MEDGEN:1851267 semapv:UnspecifiedMatching MONDO:0975870 acute myeloid leukemia with FUS-ERG fusion skos:exactMatch UMLS:C5856227 semapv:UnspecifiedMatching MONDO:0975871 acute myeloid leukemia with MNX1-ETV6 fusion skos:exactMatch DOID:0070632 acute myeloid leukemia with MNX1-ETV6 fusion semapv:UnspecifiedMatching MONDO:0975872 acute myeloid leukemia with NPM1-MLF1 fusion skos:exactMatch DOID:0070633 acute myeloid leukemia with NPM1-MLF1 fusion semapv:UnspecifiedMatching MONDO:0975872 acute myeloid leukemia with NPM1-MLF1 fusion skos:exactMatch MEDGEN:1850295 semapv:UnspecifiedMatching MONDO:0975872 acute myeloid leukemia with NPM1-MLF1 fusion skos:exactMatch UMLS:C5856228 semapv:UnspecifiedMatching MONDO:0975874 neurodevelopmental disorder with dysmorphic facies, absent speech and ambulation, and brain abnormalities skos:exactMatch MEDGEN:1875057 semapv:UnspecifiedMatching MONDO:0975874 neurodevelopmental disorder with dysmorphic facies, absent speech and ambulation, and brain abnormalities skos:exactMatch OMIM:621012 neurodevelopmental disorder with dysmorphic facies, absent speech and ambulation, and brain abnormalities semapv:UnspecifiedMatching MONDO:0975874 neurodevelopmental disorder with dysmorphic facies, absent speech and ambulation, and brain abnormalities skos:exactMatch UMLS:C5975527 semapv:UnspecifiedMatching MONDO:0975875 basal ganglia calcification, idiopathic, 10, autosomal recessive skos:exactMatch MEDGEN:1875062 semapv:UnspecifiedMatching MONDO:0975875 basal ganglia calcification, idiopathic, 10, autosomal recessive skos:exactMatch OMIM:621018 basal ganglia calcification, idiopathic, 10, autosomal recessive semapv:UnspecifiedMatching MONDO:0975875 basal ganglia calcification, idiopathic, 10, autosomal recessive skos:exactMatch UMLS:C5975532 semapv:UnspecifiedMatching MONDO:0975877 neurodevelopmental disorder with variable familial hypercholanemia skos:exactMatch MEDGEN:1875058 semapv:UnspecifiedMatching MONDO:0975877 neurodevelopmental disorder with variable familial hypercholanemia skos:exactMatch OMIM:621016 neurodevelopmental disorder with variable familial hypercholanemia semapv:UnspecifiedMatching MONDO:0975877 neurodevelopmental disorder with variable familial hypercholanemia skos:exactMatch UMLS:C5975528 semapv:UnspecifiedMatching MONDO:0975882 intellectual disability-epilepsy-dental anomalies-facial dysmorphism syndrome skos:exactMatch Orphanet:684232 Intellectual disability-épilepsy-dental anomalies-facial dysmorphism syndrome semapv:UnspecifiedMatching MONDO:0975885 hypertrophic olivary degeneration skos:exactMatch MEDGEN:1829865 semapv:UnspecifiedMatching MONDO:0975885 hypertrophic olivary degeneration skos:exactMatch Orphanet:684290 Hypertrophic olivary degeneration semapv:UnspecifiedMatching MONDO:0975885 hypertrophic olivary degeneration skos:exactMatch UMLS:C4524077 semapv:UnspecifiedMatching MONDO:0975887 2q13 microdeletion syndrome skos:exactMatch MEDGEN:1876609 semapv:UnspecifiedMatching MONDO:0975887 2q13 microdeletion syndrome skos:exactMatch Orphanet:684742 2q13 microdeletion syndrome semapv:UnspecifiedMatching MONDO:0975887 2q13 microdeletion syndrome skos:exactMatch UMLS:C6012360 semapv:UnspecifiedMatching MONDO:0975890 mesothelioma of the tunica vaginalis skos:exactMatch MEDGEN:782172 semapv:UnspecifiedMatching MONDO:0975890 mesothelioma of the tunica vaginalis skos:exactMatch Orphanet:685010 Mesothelioma of the tunica vaginalis semapv:UnspecifiedMatching MONDO:0975890 mesothelioma of the tunica vaginalis skos:exactMatch UMLS:C3494988 semapv:UnspecifiedMatching MONDO:0975891 combined immunodeficiency due to TBX1 deficiency skos:exactMatch MEDGEN:1876546 semapv:UnspecifiedMatching MONDO:0975891 combined immunodeficiency due to TBX1 deficiency skos:exactMatch Orphanet:685017 Combined immunodeficiency due to TBX1 deficiency semapv:UnspecifiedMatching MONDO:0975891 combined immunodeficiency due to TBX1 deficiency skos:exactMatch UMLS:C6012347 semapv:UnspecifiedMatching MONDO:0975895 non-fibrotic hypersensitivity pneumonitis skos:exactMatch MEDGEN:1876623 semapv:UnspecifiedMatching MONDO:0975895 non-fibrotic hypersensitivity pneumonitis skos:exactMatch Orphanet:686462 Non-fibrotic hypersensitivity pneumonitis semapv:UnspecifiedMatching MONDO:0975895 non-fibrotic hypersensitivity pneumonitis skos:exactMatch UMLS:C6012350 semapv:UnspecifiedMatching MONDO:0975896 fibrotic hypersensitivity pneumonitis skos:exactMatch MEDGEN:1808428 semapv:UnspecifiedMatching MONDO:0975896 fibrotic hypersensitivity pneumonitis skos:exactMatch Orphanet:686465 Fibrotic hypersensitivity pneumonitis semapv:UnspecifiedMatching MONDO:0975896 fibrotic hypersensitivity pneumonitis skos:exactMatch UMLS:C5666821 semapv:UnspecifiedMatching MONDO:0975897 post 5-alpha-reductase inhibitors treatment syndrome skos:exactMatch MEDGEN:1876574 semapv:UnspecifiedMatching MONDO:0975897 post 5-alpha-reductase inhibitors treatment syndrome skos:exactMatch Orphanet:686468 Post 5-alpha-reductase inhibitors treatment syndrome semapv:UnspecifiedMatching MONDO:0975897 post 5-alpha-reductase inhibitors treatment syndrome skos:exactMatch UMLS:C6012349 semapv:UnspecifiedMatching MONDO:0975898 post-selective serotonin reuptake inhibitor sexual dysfunction skos:exactMatch MEDGEN:1876676 semapv:UnspecifiedMatching MONDO:0975898 post-selective serotonin reuptake inhibitor sexual dysfunction skos:exactMatch Orphanet:686475 Post-selective serotonin reuptake inhibitor sexual dysfunction semapv:UnspecifiedMatching MONDO:0975898 post-selective serotonin reuptake inhibitor sexual dysfunction skos:exactMatch UMLS:C5554271 semapv:UnspecifiedMatching MONDO:0975902 isolated congenital cholesteatoma of the middle ear skos:exactMatch Orphanet:686556 Isolated congenital cholesteatoma of the middle ear semapv:UnspecifiedMatching MONDO:0975904 10p15 microdeletion syndrome skos:exactMatch MEDGEN:1876602 semapv:UnspecifiedMatching MONDO:0975904 10p15 microdeletion syndrome skos:exactMatch Orphanet:687424 ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to 10p15.3 microdeletion semapv:UnspecifiedMatching MONDO:0975904 10p15 microdeletion syndrome skos:exactMatch UMLS:C6012351 semapv:UnspecifiedMatching MONDO:0975905 10p13-p14 deletion syndrome skos:exactMatch NCIT:C130982 10p13-p14 Deletion Syndrome semapv:UnspecifiedMatching MONDO:0975905 10p13-p14 deletion syndrome skos:exactMatch OMIM:601362 digeorge syndrome/velocardiofacial syndrome complex 2 semapv:UnspecifiedMatching MONDO:0975905 10p13-p14 deletion syndrome skos:exactMatch Orphanet:687695 10p13-p14 deletion syndrome semapv:UnspecifiedMatching MONDO:0975906 unifocal langerhans cell histiocytosis skos:exactMatch MEDGEN:727088 semapv:UnspecifiedMatching MONDO:0975906 unifocal langerhans cell histiocytosis skos:exactMatch Orphanet:687730 Unifocal Langerhans cell histiocytosis semapv:UnspecifiedMatching MONDO:0975906 unifocal langerhans cell histiocytosis skos:exactMatch UMLS:C1306599 semapv:UnspecifiedMatching MONDO:0975907 pulmonary langerhans cell histiocytosis skos:exactMatch MEDGEN:264101 semapv:UnspecifiedMatching MONDO:0975907 pulmonary langerhans cell histiocytosis skos:exactMatch Orphanet:687733 Pulmonary Langerhans cell histiocytosis semapv:UnspecifiedMatching MONDO:0975907 pulmonary langerhans cell histiocytosis skos:exactMatch UMLS:C1455705 semapv:UnspecifiedMatching MONDO:0975908 single-system multifocal langerhans cell histiocytosis skos:exactMatch MEDGEN:1876610 semapv:UnspecifiedMatching MONDO:0975908 single-system multifocal langerhans cell histiocytosis skos:exactMatch Orphanet:687738 Single-system multifocal Langerhans cell histiocytosis semapv:UnspecifiedMatching MONDO:0975908 single-system multifocal langerhans cell histiocytosis skos:exactMatch UMLS:C6012359 semapv:UnspecifiedMatching MONDO:0975909 multisystem langerhans cell histiocytosis skos:exactMatch MEDGEN:1876606 semapv:UnspecifiedMatching MONDO:0975909 multisystem langerhans cell histiocytosis skos:exactMatch Orphanet:687741 Multisystem Langerhans cell histiocytosis semapv:UnspecifiedMatching MONDO:0975909 multisystem langerhans cell histiocytosis skos:exactMatch UMLS:C6012358 semapv:UnspecifiedMatching MONDO:0975910 splenic venous malformation skos:exactMatch MEDGEN:1876593 semapv:UnspecifiedMatching MONDO:0975910 splenic venous malformation skos:exactMatch Orphanet:688523 Splenic venous malformation semapv:UnspecifiedMatching MONDO:0975910 splenic venous malformation skos:exactMatch UMLS:C6012357 semapv:UnspecifiedMatching MONDO:0975911 reticular dysgenesis-like severe combined immunodeficiency skos:exactMatch MEDGEN:1876613 semapv:UnspecifiedMatching MONDO:0975911 reticular dysgenesis-like severe combined immunodeficiency skos:exactMatch Orphanet:688543 Reticular dysgenesis-like severe combined immunodeficiency semapv:UnspecifiedMatching MONDO:0975911 reticular dysgenesis-like severe combined immunodeficiency skos:exactMatch UMLS:C6012356 semapv:UnspecifiedMatching MONDO:0975918 asymptomatic hyperckemia-myalgia-rhabdomyolysis syndrome skos:exactMatch MEDGEN:1876659 semapv:UnspecifiedMatching MONDO:0975918 asymptomatic hyperckemia-myalgia-rhabdomyolysis syndrome skos:exactMatch Orphanet:689021 Asymptomatic hyperCKemia-myalgia-rhabdomyolysis syndrome semapv:UnspecifiedMatching MONDO:0975918 asymptomatic hyperckemia-myalgia-rhabdomyolysis syndrome skos:exactMatch UMLS:C6012375 semapv:UnspecifiedMatching MONDO:0975919 IFIH1-related hereditary spastic paraplegia skos:exactMatch MEDGEN:1885531 semapv:UnspecifiedMatching MONDO:0975919 IFIH1-related hereditary spastic paraplegia skos:exactMatch Orphanet:689231 IFIH1-related hereditary spastic paraplegia semapv:UnspecifiedMatching MONDO:0975919 IFIH1-related hereditary spastic paraplegia skos:exactMatch UMLS:C6012376 semapv:UnspecifiedMatching MONDO:0975920 RNASEH2B-related hereditary spastic paraplegia skos:exactMatch MEDGEN:1885530 semapv:UnspecifiedMatching MONDO:0975920 RNASEH2B-related hereditary spastic paraplegia skos:exactMatch Orphanet:689234 RNASEH2B-related hereditary spastic paraplegia semapv:UnspecifiedMatching MONDO:0975920 RNASEH2B-related hereditary spastic paraplegia skos:exactMatch UMLS:C6012377 semapv:UnspecifiedMatching MONDO:0975922 acquired hypothalamic obesity skos:exactMatch MEDGEN:1876719 semapv:UnspecifiedMatching MONDO:0975922 acquired hypothalamic obesity skos:exactMatch Orphanet:689401 Acquired hypothalamic obesity semapv:UnspecifiedMatching MONDO:0975922 acquired hypothalamic obesity skos:exactMatch UMLS:C6012378 semapv:UnspecifiedMatching MONDO:0975925 adenoid ameloblastoma skos:exactMatch MEDGEN:1857420 semapv:UnspecifiedMatching MONDO:0975925 adenoid ameloblastoma skos:exactMatch Orphanet:689430 Adenoid ameloblastoma semapv:UnspecifiedMatching MONDO:0975925 adenoid ameloblastoma skos:exactMatch UMLS:C5207962 semapv:UnspecifiedMatching MONDO:0975951 spastic paraplegia, mitochondrial skos:exactMatch MEDGEN:1874432 semapv:UnspecifiedMatching MONDO:0975951 spastic paraplegia, mitochondrial skos:exactMatch OMIM:500018 spastic paraplegia, mitochondrial semapv:UnspecifiedMatching MONDO:0975951 spastic paraplegia, mitochondrial skos:exactMatch UMLS:C5974902 semapv:UnspecifiedMatching MONDO:0975952 cerebral cavernous malformations 5 skos:exactMatch MEDGEN:1875071 semapv:UnspecifiedMatching MONDO:0975952 cerebral cavernous malformations 5 skos:exactMatch OMIM:621032 cerebral cavernous malformations 5 semapv:UnspecifiedMatching MONDO:0975952 cerebral cavernous malformations 5 skos:exactMatch UMLS:C5975541 semapv:UnspecifiedMatching MONDO:0975953 Pan-Chung-Bellen syndrome skos:exactMatch DOID:0061146 Pan-Chung-Bellen syndrome semapv:UnspecifiedMatching MONDO:0975953 Pan-Chung-Bellen syndrome skos:exactMatch MEDGEN:1875077 semapv:UnspecifiedMatching MONDO:0975953 Pan-Chung-Bellen syndrome skos:exactMatch OMIM:621049 pan-chung-bellen syndrome semapv:UnspecifiedMatching MONDO:0975953 Pan-Chung-Bellen syndrome skos:exactMatch UMLS:C5975547 semapv:UnspecifiedMatching MONDO:0975955 autoinflammation, panniculitis, and dermatosis syndrome skos:exactMatch DOID:0061170 autoinflammation, panniculitis, and dermatosis syndrome semapv:UnspecifiedMatching MONDO:0975955 autoinflammation, panniculitis, and dermatosis syndrome skos:exactMatch OMIMPS:617099 Autoinflammation, panniculitis, and dermatosis syndrome semapv:UnspecifiedMatching MONDO:0975957 telangiectasia, impaired intellectual development, microcephaly, metaphyseal dysplasia, eye abnormalities, and short stature skos:exactMatch MEDGEN:1875087 semapv:UnspecifiedMatching MONDO:0975957 telangiectasia, impaired intellectual development, microcephaly, metaphyseal dysplasia, eye abnormalities, and short stature skos:exactMatch OMIM:621056 telangiectasia, impaired intellectual development, microcephaly, metaphyseal dysplasia, eye abnormalities, and short stature semapv:UnspecifiedMatching MONDO:0975957 telangiectasia, impaired intellectual development, microcephaly, metaphyseal dysplasia, eye abnormalities, and short stature skos:exactMatch UMLS:C5975557 semapv:UnspecifiedMatching MONDO:0975958 spermatogenic failure 97 skos:exactMatch MEDGEN:1875099 semapv:UnspecifiedMatching MONDO:0975958 spermatogenic failure 97 skos:exactMatch OMIM:621057 spermatogenic failure 97 semapv:UnspecifiedMatching MONDO:0975958 spermatogenic failure 97 skos:exactMatch UMLS:C5975569 semapv:UnspecifiedMatching MONDO:0976123 spermatogenic failure, X-linked, 9 skos:exactMatch DOID:0061177 X-linked spermatogenic failure 9 semapv:UnspecifiedMatching MONDO:0976123 spermatogenic failure, X-linked, 9 skos:exactMatch MEDGEN:1874423 semapv:UnspecifiedMatching MONDO:0976123 spermatogenic failure, X-linked, 9 skos:exactMatch OMIM:301137 spermatogenic failure, x-linked, 9 semapv:UnspecifiedMatching MONDO:0976123 spermatogenic failure, X-linked, 9 skos:exactMatch UMLS:C5974893 semapv:UnspecifiedMatching MONDO:0976124 intellectual developmental disorder with polymicrogyria and seizures skos:exactMatch MEDGEN:1875065 semapv:UnspecifiedMatching MONDO:0976124 intellectual developmental disorder with polymicrogyria and seizures skos:exactMatch OMIM:621021 intellectual developmental disorder with polymicrogyria and seizures semapv:UnspecifiedMatching MONDO:0976124 intellectual developmental disorder with polymicrogyria and seizures skos:exactMatch UMLS:C5975535 semapv:UnspecifiedMatching MONDO:0976125 neurodevelopmental disorder with speech or visual impairment and brain hypomyelination skos:exactMatch MEDGEN:1875075 semapv:UnspecifiedMatching MONDO:0976125 neurodevelopmental disorder with speech or visual impairment and brain hypomyelination skos:exactMatch OMIM:621034 neurodevelopmental disorder with speech or visual impairment and brain hypomyelination semapv:UnspecifiedMatching MONDO:0976125 neurodevelopmental disorder with speech or visual impairment and brain hypomyelination skos:exactMatch UMLS:C5975545 semapv:UnspecifiedMatching MONDO:0976126 neurodevelopmental disorder with microcephaly, absent speech, and hypotonia skos:exactMatch DOID:0051030 neurodevelopmental disorder with microcephaly, absent speech, and hypotonia semapv:UnspecifiedMatching MONDO:0976126 neurodevelopmental disorder with microcephaly, absent speech, and hypotonia skos:exactMatch MEDGEN:1875108 semapv:UnspecifiedMatching MONDO:0976126 neurodevelopmental disorder with microcephaly, absent speech, and hypotonia skos:exactMatch OMIM:621060 neurodevelopmental disorder with microcephaly, absent speech, and hypotonia semapv:UnspecifiedMatching MONDO:0976126 neurodevelopmental disorder with microcephaly, absent speech, and hypotonia skos:exactMatch UMLS:C5975578 semapv:UnspecifiedMatching MONDO:0976127 Muggenthaler-Chowdhury-Chioza syndrome skos:exactMatch MEDGEN:1800190 semapv:UnspecifiedMatching MONDO:0976127 Muggenthaler-Chowdhury-Chioza syndrome skos:exactMatch MEDGEN:1875116 semapv:UnspecifiedMatching MONDO:0976127 Muggenthaler-Chowdhury-Chioza syndrome skos:exactMatch OMIM:621063 muggenthaler-chowdhury-chioza syndrome semapv:UnspecifiedMatching MONDO:0976127 Muggenthaler-Chowdhury-Chioza syndrome skos:exactMatch Orphanet:508476 Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome semapv:UnspecifiedMatching MONDO:0976127 Muggenthaler-Chowdhury-Chioza syndrome skos:exactMatch UMLS:C5568767 semapv:UnspecifiedMatching MONDO:0976127 Muggenthaler-Chowdhury-Chioza syndrome skos:exactMatch UMLS:C5975586 semapv:UnspecifiedMatching MONDO:0976128 epilepsy, idiopathic generalized, susceptibility to, 19 skos:exactMatch MEDGEN:1875119 semapv:UnspecifiedMatching MONDO:0976128 epilepsy, idiopathic generalized, susceptibility to, 19 skos:exactMatch OMIM:621064 epilepsy, idiopathic generalized, susceptibility to, 19 semapv:UnspecifiedMatching MONDO:0976128 epilepsy, idiopathic generalized, susceptibility to, 19 skos:exactMatch UMLS:C5975589 semapv:UnspecifiedMatching MONDO:0976129 premature ovarian failure 26 skos:exactMatch MEDGEN:1875121 semapv:UnspecifiedMatching MONDO:0976129 premature ovarian failure 26 skos:exactMatch OMIM:621065 premature ovarian failure 26 semapv:UnspecifiedMatching MONDO:0976129 premature ovarian failure 26 skos:exactMatch UMLS:C5975591 semapv:UnspecifiedMatching MONDO:0976130 neurodevelopmental disorder with poor growth, absent speech, progressive ataxia, and dysmorphic facies skos:exactMatch MEDGEN:1875124 semapv:UnspecifiedMatching MONDO:0976130 neurodevelopmental disorder with poor growth, absent speech, progressive ataxia, and dysmorphic facies skos:exactMatch OMIM:621067 neurodevelopmental disorder with poor growth, absent speech, progressive ataxia, and dysmorphic facies semapv:UnspecifiedMatching MONDO:0976130 neurodevelopmental disorder with poor growth, absent speech, progressive ataxia, and dysmorphic facies skos:exactMatch UMLS:C5975594 semapv:UnspecifiedMatching MONDO:0976131 neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemia skos:exactMatch MEDGEN:1875126 semapv:UnspecifiedMatching MONDO:0976131 neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemia skos:exactMatch OMIM:621068 neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemia semapv:UnspecifiedMatching MONDO:0976131 neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemia skos:exactMatch UMLS:C5975596 semapv:UnspecifiedMatching MONDO:0976132 mitochondrial dna depletion syndrome 21 skos:exactMatch DOID:0051029 mitochondrial DNA depletion syndrome-21 semapv:UnspecifiedMatching MONDO:0976132 mitochondrial dna depletion syndrome 21 skos:exactMatch MEDGEN:1875129 semapv:UnspecifiedMatching MONDO:0976132 mitochondrial dna depletion syndrome 21 skos:exactMatch OMIM:621071 mitochondrial DNA depletion syndrome 21 semapv:UnspecifiedMatching MONDO:0976132 mitochondrial dna depletion syndrome 21 skos:exactMatch UMLS:C5975599 semapv:UnspecifiedMatching MONDO:0976133 myopathy, myofibrillar, 13, with rimmed vacuoles skos:exactMatch DOID:0051045 myofibrillar myopathy 13 with rimmed vacuoles semapv:UnspecifiedMatching MONDO:0976133 myopathy, myofibrillar, 13, with rimmed vacuoles skos:exactMatch MEDGEN:1799560 semapv:UnspecifiedMatching MONDO:0976133 myopathy, myofibrillar, 13, with rimmed vacuoles skos:exactMatch OMIM:621078 myopathy, myofibrillar, 13, with rimmed vacuoles semapv:UnspecifiedMatching MONDO:0976133 myopathy, myofibrillar, 13, with rimmed vacuoles skos:exactMatch Orphanet:476093 Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome semapv:UnspecifiedMatching MONDO:0976133 myopathy, myofibrillar, 13, with rimmed vacuoles skos:exactMatch UMLS:C5568137 semapv:UnspecifiedMatching MONDO:0976134 heterotaxy, visceral, 13, autosomal skos:exactMatch DOID:0051027 visceral heterotaxy 13 semapv:UnspecifiedMatching MONDO:0976134 heterotaxy, visceral, 13, autosomal skos:exactMatch MEDGEN:1875137 semapv:UnspecifiedMatching MONDO:0976134 heterotaxy, visceral, 13, autosomal skos:exactMatch OMIM:621079 heterotaxy, visceral, 13, autosomal semapv:UnspecifiedMatching MONDO:0976134 heterotaxy, visceral, 13, autosomal skos:exactMatch UMLS:C5975607 semapv:UnspecifiedMatching MONDO:0976135 heterotaxy, visceral, 14, autosomal skos:exactMatch DOID:0061123 visceral heterotaxy 14 semapv:UnspecifiedMatching MONDO:0976135 heterotaxy, visceral, 14, autosomal skos:exactMatch MEDGEN:1875141 semapv:UnspecifiedMatching MONDO:0976135 heterotaxy, visceral, 14, autosomal skos:exactMatch OMIM:621080 heterotaxy, visceral, 14, autosomal semapv:UnspecifiedMatching MONDO:0976135 heterotaxy, visceral, 14, autosomal skos:exactMatch UMLS:C5975611 semapv:UnspecifiedMatching MONDO:0976136 ocular pterygium-digital keloid dysplasia syndrome skos:exactMatch MEDGEN:1875143 semapv:UnspecifiedMatching MONDO:0976136 ocular pterygium-digital keloid dysplasia syndrome skos:exactMatch OMIM:621091 ocular pterygium-digital keloid dysplasia syndrome semapv:UnspecifiedMatching MONDO:0976136 ocular pterygium-digital keloid dysplasia syndrome skos:exactMatch UMLS:C5975613 semapv:UnspecifiedMatching MONDO:0976137 oocyte/zygote/embryo maturation arrest 22 skos:exactMatch MEDGEN:1875156 semapv:UnspecifiedMatching MONDO:0976137 oocyte/zygote/embryo maturation arrest 22 skos:exactMatch OMIM:621093 oocyte/zygote/embryo maturation arrest 22 semapv:UnspecifiedMatching MONDO:0976137 oocyte/zygote/embryo maturation arrest 22 skos:exactMatch UMLS:C5975626 semapv:UnspecifiedMatching MONDO:0976226 neuronopathy, distal hereditary motor, autosomal dominant 15 skos:exactMatch DOID:0051042 autosomal dominant distal hereditary motor neuronopathy 15 semapv:UnspecifiedMatching MONDO:0976226 neuronopathy, distal hereditary motor, autosomal dominant 15 skos:exactMatch MEDGEN:1875158 semapv:UnspecifiedMatching MONDO:0976226 neuronopathy, distal hereditary motor, autosomal dominant 15 skos:exactMatch OMIM:621094 neuronopathy, distal hereditary motor, autosomal dominant 15 semapv:UnspecifiedMatching MONDO:0976226 neuronopathy, distal hereditary motor, autosomal dominant 15 skos:exactMatch UMLS:C5975628 semapv:UnspecifiedMatching MONDO:0976227 Charcot-Marie-tooth disease, axonal, type 2JJ skos:exactMatch DOID:0051043 Charcot-Marie-Tooth disease axonal type 2JJ semapv:UnspecifiedMatching MONDO:0976227 Charcot-Marie-tooth disease, axonal, type 2JJ skos:exactMatch MEDGEN:1875159 semapv:UnspecifiedMatching MONDO:0976227 Charcot-Marie-tooth disease, axonal, type 2JJ skos:exactMatch OMIM:621095 charcot-marie-tooth disease, axonal, type 2jj semapv:UnspecifiedMatching MONDO:0976227 Charcot-Marie-tooth disease, axonal, type 2JJ skos:exactMatch UMLS:C5975629 semapv:UnspecifiedMatching MONDO:0976228 immunodeficiency 132b skos:exactMatch DOID:0061097 immunodeficiency 132B semapv:UnspecifiedMatching MONDO:0976228 immunodeficiency 132b skos:exactMatch MEDGEN:1876493 semapv:UnspecifiedMatching MONDO:0976228 immunodeficiency 132b skos:exactMatch OMIM:621096 immunodeficiency 132b semapv:UnspecifiedMatching MONDO:0976228 immunodeficiency 132b skos:exactMatch UMLS:C6012695 semapv:UnspecifiedMatching MONDO:0976229 immunodeficiency 131 skos:exactMatch DOID:0061125 immunodeficiency 131 semapv:UnspecifiedMatching MONDO:0976229 immunodeficiency 131 skos:exactMatch MEDGEN:1876503 semapv:UnspecifiedMatching MONDO:0976229 immunodeficiency 131 skos:exactMatch OMIM:621097 immunodeficiency 131 semapv:UnspecifiedMatching MONDO:0976229 immunodeficiency 131 skos:exactMatch UMLS:C6012696 semapv:UnspecifiedMatching MONDO:0976230 spondyloepimetaphyseal dysplasia, Li-Shao-Li type skos:exactMatch DOID:0051046 spondyloepimetaphyseal dysplasia, Li-Shao-Li type semapv:UnspecifiedMatching MONDO:0976230 spondyloepimetaphyseal dysplasia, Li-Shao-Li type skos:exactMatch MEDGEN:1876456 semapv:UnspecifiedMatching MONDO:0976230 spondyloepimetaphyseal dysplasia, Li-Shao-Li type skos:exactMatch OMIM:621099 spondyloepimetaphyseal dysplasia, li-shao-li type semapv:UnspecifiedMatching MONDO:0976230 spondyloepimetaphyseal dysplasia, Li-Shao-Li type skos:exactMatch UMLS:C6012697 semapv:UnspecifiedMatching MONDO:0976231 intellectual developmental disorder, autosomal recessive 83 skos:exactMatch DOID:0061114 autosomal recessive intellectual developmental disorder 83 semapv:UnspecifiedMatching MONDO:0976231 intellectual developmental disorder, autosomal recessive 83 skos:exactMatch MEDGEN:1876500 semapv:UnspecifiedMatching MONDO:0976231 intellectual developmental disorder, autosomal recessive 83 skos:exactMatch OMIM:621100 intellectual developmental disorder, autosomal recessive 83 semapv:UnspecifiedMatching MONDO:0976231 intellectual developmental disorder, autosomal recessive 83 skos:exactMatch UMLS:C6012698 semapv:UnspecifiedMatching MONDO:0976232 Perrault syndrome 7 skos:exactMatch DOID:0061073 Perrault syndrome 7 semapv:UnspecifiedMatching MONDO:0976232 Perrault syndrome 7 skos:exactMatch MEDGEN:1876467 semapv:UnspecifiedMatching MONDO:0976232 Perrault syndrome 7 skos:exactMatch OMIM:621101 perrault syndrome 7 semapv:UnspecifiedMatching MONDO:0976232 Perrault syndrome 7 skos:exactMatch UMLS:C6012699 semapv:UnspecifiedMatching MONDO:0976233 neurodevelopmental disorder with progressive spasticity and brain abnormalities skos:exactMatch MEDGEN:1876541 semapv:UnspecifiedMatching MONDO:0976233 neurodevelopmental disorder with progressive spasticity and brain abnormalities skos:exactMatch OMIM:621102 neurodevelopmental disorder with progressive spasticity and brain abnormalities semapv:UnspecifiedMatching MONDO:0976233 neurodevelopmental disorder with progressive spasticity and brain abnormalities skos:exactMatch UMLS:C6012700 semapv:UnspecifiedMatching MONDO:0976234 tubulointerstitial kidney disease, autosomal dominant 6 skos:exactMatch DOID:0061121 autosomal dominant tubulointerstitial kidney disease 6 semapv:UnspecifiedMatching MONDO:0976234 tubulointerstitial kidney disease, autosomal dominant 6 skos:exactMatch MEDGEN:1876482 semapv:UnspecifiedMatching MONDO:0976234 tubulointerstitial kidney disease, autosomal dominant 6 skos:exactMatch OMIM:621106 tubulointerstitial kidney disease, autosomal dominant 6 semapv:UnspecifiedMatching MONDO:0976234 tubulointerstitial kidney disease, autosomal dominant 6 skos:exactMatch UMLS:C6012701 semapv:UnspecifiedMatching MONDO:0976236 neurodegenerative disorder, X-linked, female-restricted, with parkinsonism and cognitive impairment skos:exactMatch MEDGEN:1876537 semapv:UnspecifiedMatching MONDO:0976236 neurodegenerative disorder, X-linked, female-restricted, with parkinsonism and cognitive impairment skos:exactMatch OMIM:301142 neurodegenerative disorder, x-linked, female-restricted, with parkinsonism and cognitive impairment semapv:UnspecifiedMatching MONDO:0976236 neurodegenerative disorder, X-linked, female-restricted, with parkinsonism and cognitive impairment skos:exactMatch UMLS:C6012689 semapv:UnspecifiedMatching MONDO:0976261 congenital disorder of glycosylation type 1EE with or without immunodeficiency skos:exactMatch MEDGEN:1876461 semapv:UnspecifiedMatching MONDO:0976261 congenital disorder of glycosylation type 1EE with or without immunodeficiency skos:exactMatch OMIM:621140 congenital disorder of glycosylation type 1ee with or without immunodeficiency semapv:UnspecifiedMatching MONDO:0976261 congenital disorder of glycosylation type 1EE with or without immunodeficiency skos:exactMatch Orphanet:695110 MAN2B2-CDG semapv:UnspecifiedMatching MONDO:0976261 congenital disorder of glycosylation type 1EE with or without immunodeficiency skos:exactMatch UMLS:C6012707 semapv:UnspecifiedMatching MONDO:0976262 holoprosencephaly 10 skos:exactMatch OMIM:621143 holoprosencephaly 10 semapv:UnspecifiedMatching MONDO:0976263 neurodevelopmental disorder with thin corpus callosum, hypotonia, and absent language skos:exactMatch MEDGEN:1876520 semapv:UnspecifiedMatching MONDO:0976263 neurodevelopmental disorder with thin corpus callosum, hypotonia, and absent language skos:exactMatch OMIM:621150 neurodevelopmental disorder with thin corpus callosum, hypotonia, and absent language semapv:UnspecifiedMatching MONDO:0976263 neurodevelopmental disorder with thin corpus callosum, hypotonia, and absent language skos:exactMatch UMLS:C6012708 semapv:UnspecifiedMatching MONDO:0976264 neurodevelopmental disorder with white matter abnormalities and gait disturbance skos:exactMatch MEDGEN:1876507 semapv:UnspecifiedMatching MONDO:0976264 neurodevelopmental disorder with white matter abnormalities and gait disturbance skos:exactMatch OMIM:621152 neurodevelopmental disorder with white matter abnormalities and gait disturbance semapv:UnspecifiedMatching MONDO:0976264 neurodevelopmental disorder with white matter abnormalities and gait disturbance skos:exactMatch UMLS:C6012709 semapv:UnspecifiedMatching MONDO:0976265 neurodevelopmental disorder with poor growth, seizures, and brain abnormalities skos:exactMatch MEDGEN:1876462 semapv:UnspecifiedMatching MONDO:0976265 neurodevelopmental disorder with poor growth, seizures, and brain abnormalities skos:exactMatch OMIM:621154 neurodevelopmental disorder with poor growth, seizures, and brain abnormalities semapv:UnspecifiedMatching MONDO:0976265 neurodevelopmental disorder with poor growth, seizures, and brain abnormalities skos:exactMatch UMLS:C6012710 semapv:UnspecifiedMatching MONDO:0976266 diarrhea 14, congenital skos:exactMatch MEDGEN:1876494 semapv:UnspecifiedMatching MONDO:0976266 diarrhea 14, congenital skos:exactMatch OMIM:621160 diarrhea 14, congenital semapv:UnspecifiedMatching MONDO:0976266 diarrhea 14, congenital skos:exactMatch UMLS:C6012711 semapv:UnspecifiedMatching MONDO:0976267 polycystic kidney disease 9, susceptibility to skos:exactMatch MEDGEN:1876505 semapv:UnspecifiedMatching MONDO:0976267 polycystic kidney disease 9, susceptibility to skos:exactMatch OMIM:621164 polycystic kidney disease 9, susceptibility to semapv:UnspecifiedMatching MONDO:0976267 polycystic kidney disease 9, susceptibility to skos:exactMatch UMLS:C6012712 semapv:UnspecifiedMatching MONDO:0976268 diarrhea 15, congenital skos:exactMatch MEDGEN:1876519 semapv:UnspecifiedMatching MONDO:0976268 diarrhea 15, congenital skos:exactMatch OMIM:621179 diarrhea 15, congenital semapv:UnspecifiedMatching MONDO:0976268 diarrhea 15, congenital skos:exactMatch UMLS:C6012715 semapv:UnspecifiedMatching MONDO:0976269 cranioectodermal dysplasia 5 skos:exactMatch MEDGEN:1876450 semapv:UnspecifiedMatching MONDO:0976269 cranioectodermal dysplasia 5 skos:exactMatch OMIM:621180 cranioectodermal dysplasia 5 semapv:UnspecifiedMatching MONDO:0976269 cranioectodermal dysplasia 5 skos:exactMatch UMLS:C6011237 semapv:UnspecifiedMatching MONDO:0976285 neurodevelopmental disorder with poor or absent speech, dysmorphic facies, and behavioral abnormalities skos:exactMatch MEDGEN:1876489 semapv:UnspecifiedMatching MONDO:0976285 neurodevelopmental disorder with poor or absent speech, dysmorphic facies, and behavioral abnormalities skos:exactMatch OMIM:621182 neurodevelopmental disorder with poor or absent speech, dysmorphic facies, and behavioral abnormalities semapv:UnspecifiedMatching MONDO:0976285 neurodevelopmental disorder with poor or absent speech, dysmorphic facies, and behavioral abnormalities skos:exactMatch UMLS:C6012716 semapv:UnspecifiedMatching MONDO:0976286 Tayoun-Maawali syndrome skos:exactMatch MEDGEN:1876512 semapv:UnspecifiedMatching MONDO:0976286 Tayoun-Maawali syndrome skos:exactMatch OMIM:621184 tayoun-maawali syndrome semapv:UnspecifiedMatching MONDO:0976286 Tayoun-Maawali syndrome skos:exactMatch UMLS:C6012717 semapv:UnspecifiedMatching MONDO:0976294 ragopathy skos:exactMatch DOID:0061140 ragopathy semapv:UnspecifiedMatching MONDO:0976301 cardiovascular-kidney-metabolic syndrome skos:exactMatch DOID:0070635 cardiovascular-kidney-metabolic syndrome semapv:UnspecifiedMatching MONDO:0978291 retinitis pigmentosa 99 skos:exactMatch MEDGEN:1876472 semapv:UnspecifiedMatching MONDO:0978291 retinitis pigmentosa 99 skos:exactMatch OMIM:301148 retinitis pigmentosa 99 semapv:UnspecifiedMatching MONDO:0978291 retinitis pigmentosa 99 skos:exactMatch UMLS:C6012690 semapv:UnspecifiedMatching MONDO:0978292 retinal dystrophy, X-linked, Gardner-Hardcastle type skos:exactMatch MEDGEN:1876524 semapv:UnspecifiedMatching MONDO:0978292 retinal dystrophy, X-linked, Gardner-Hardcastle type skos:exactMatch OMIM:301149 retinal dystrophy, x-linked, gardner-hardcastle type semapv:UnspecifiedMatching MONDO:0978292 retinal dystrophy, X-linked, Gardner-Hardcastle type skos:exactMatch UMLS:C6012691 semapv:UnspecifiedMatching MONDO:0978293 Houge-Janssens syndrome 4 skos:exactMatch MEDGEN:1876484 semapv:UnspecifiedMatching MONDO:0978293 Houge-Janssens syndrome 4 skos:exactMatch OMIM:621185 houge-janssens syndrome 4 semapv:UnspecifiedMatching MONDO:0978293 Houge-Janssens syndrome 4 skos:exactMatch UMLS:C6012718 semapv:UnspecifiedMatching MONDO:0978294 LSM7-related leukodystrophy and cerebellar atrophy skos:exactMatch MEDGEN:1876463 semapv:UnspecifiedMatching MONDO:0978294 LSM7-related leukodystrophy and cerebellar atrophy skos:exactMatch OMIM:621191 leukodystrophy and cerebellar atrophy semapv:UnspecifiedMatching MONDO:0978294 LSM7-related leukodystrophy and cerebellar atrophy skos:exactMatch UMLS:C6012719 semapv:UnspecifiedMatching MONDO:0978295 craniofaciocardiohepatic syndrome skos:exactMatch MEDGEN:1876487 semapv:UnspecifiedMatching MONDO:0978295 craniofaciocardiohepatic syndrome skos:exactMatch OMIM:621192 craniofaciocardiohepatic syndrome semapv:UnspecifiedMatching MONDO:0978295 craniofaciocardiohepatic syndrome skos:exactMatch UMLS:C6012720 semapv:UnspecifiedMatching MONDO:0978296 FICUS syndrome skos:exactMatch MEDGEN:1876514 semapv:UnspecifiedMatching MONDO:0978296 FICUS syndrome skos:exactMatch OMIM:621193 FICUS syndrome semapv:UnspecifiedMatching MONDO:0978296 FICUS syndrome skos:exactMatch UMLS:C6011251 semapv:UnspecifiedMatching MONDO:0978297 spermatogenic failure 99 skos:exactMatch MEDGEN:1876518 semapv:UnspecifiedMatching MONDO:0978297 spermatogenic failure 99 skos:exactMatch OMIM:621194 spermatogenic failure 99 semapv:UnspecifiedMatching MONDO:0978297 spermatogenic failure 99 skos:exactMatch UMLS:C6012721 semapv:UnspecifiedMatching MONDO:0978298 combined oxidative phosphorylation deficiency 60 skos:exactMatch MEDGEN:1876491 semapv:UnspecifiedMatching MONDO:0978298 combined oxidative phosphorylation deficiency 60 skos:exactMatch OMIM:621195 combined oxidative phosphorylation deficiency 60 semapv:UnspecifiedMatching MONDO:0978298 combined oxidative phosphorylation deficiency 60 skos:exactMatch UMLS:C6012722 semapv:UnspecifiedMatching MONDO:0978299 maturity-onset diabetes of the young, type 12 skos:exactMatch MEDGEN:1876495 semapv:UnspecifiedMatching MONDO:0978299 maturity-onset diabetes of the young, type 12 skos:exactMatch OMIM:621196 maturity-onset diabetes of the young, type 12 semapv:UnspecifiedMatching MONDO:0978299 maturity-onset diabetes of the young, type 12 skos:exactMatch UMLS:C6012723 semapv:UnspecifiedMatching MONDO:0978300 neurodevelopmental disorder with ataxia and brain abnormalities skos:exactMatch MEDGEN:1876536 semapv:UnspecifiedMatching MONDO:0978300 neurodevelopmental disorder with ataxia and brain abnormalities skos:exactMatch OMIM:621199 neurodevelopmental disorder with ataxia and brain abnormalities semapv:UnspecifiedMatching MONDO:0978300 neurodevelopmental disorder with ataxia and brain abnormalities skos:exactMatch UMLS:C6012724 semapv:UnspecifiedMatching MONDO:0978301 neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures skos:exactMatch MEDGEN:1876530 semapv:UnspecifiedMatching MONDO:0978301 neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures skos:exactMatch OMIM:621201 neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures semapv:UnspecifiedMatching MONDO:0978301 neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures skos:exactMatch UMLS:C6012725 semapv:UnspecifiedMatching MONDO:0978302 spermatogenic failure 100 skos:exactMatch MEDGEN:1876528 semapv:UnspecifiedMatching MONDO:0978302 spermatogenic failure 100 skos:exactMatch OMIM:621209 spermatogenic failure 100 semapv:UnspecifiedMatching MONDO:0978302 spermatogenic failure 100 skos:exactMatch UMLS:C6012726 semapv:UnspecifiedMatching MONDO:0978303 Li-Takada-Miyake syndrome skos:exactMatch MEDGEN:1876532 semapv:UnspecifiedMatching MONDO:0978303 Li-Takada-Miyake syndrome skos:exactMatch OMIM:621212 li-takada-miyake syndrome semapv:UnspecifiedMatching MONDO:0978303 Li-Takada-Miyake syndrome skos:exactMatch UMLS:C6012727 semapv:UnspecifiedMatching MONDO:0978306 isolated duodenal duplication skos:exactMatch Orphanet:662473 Isolated duodenal duplication semapv:UnspecifiedMatching MONDO:0978307 isolated jejuno-ileal duplication skos:exactMatch Orphanet:662480 Isolated jejuno-ileal duplication semapv:UnspecifiedMatching MONDO:0978310 adenomatoid tumour of the peritoneum skos:exactMatch Orphanet:675976 Adenomatoid tumour of the peritoneum semapv:UnspecifiedMatching MONDO:0978312 isolated anal canal duplication skos:exactMatch Orphanet:684752 Isolated anal canal duplication semapv:UnspecifiedMatching MONDO:0979226 leukodystrophy, adult-onset, autosomal dominant, without amyloid angiopathy skos:exactMatch MEDGEN:1876449 semapv:UnspecifiedMatching MONDO:0979226 leukodystrophy, adult-onset, autosomal dominant, without amyloid angiopathy skos:exactMatch OMIM:621214 leukodystrophy, adult-onset, autosomal dominant, without amyloid angiopathy semapv:UnspecifiedMatching MONDO:0979226 leukodystrophy, adult-onset, autosomal dominant, without amyloid angiopathy skos:exactMatch UMLS:C6012728 semapv:UnspecifiedMatching MONDO:0979227 Guillouet-Gordon syndrome skos:exactMatch MEDGEN:1876455 semapv:UnspecifiedMatching MONDO:0979227 Guillouet-Gordon syndrome skos:exactMatch OMIM:621220 guillouet-gordon syndrome semapv:UnspecifiedMatching MONDO:0979227 Guillouet-Gordon syndrome skos:exactMatch UMLS:C6012729 semapv:UnspecifiedMatching MONDO:0979228 ectodermal dysplasia 17 with or without limb malformations skos:exactMatch MEDGEN:1876515 semapv:UnspecifiedMatching MONDO:0979228 ectodermal dysplasia 17 with or without limb malformations skos:exactMatch OMIM:621224 ectodermal dysplasia 17 with or without limb malformations semapv:UnspecifiedMatching MONDO:0979228 ectodermal dysplasia 17 with or without limb malformations skos:exactMatch UMLS:C6012731 semapv:UnspecifiedMatching MONDO:0979229 congenital myopathy 26 skos:exactMatch MEDGEN:1876488 semapv:UnspecifiedMatching MONDO:0979229 congenital myopathy 26 skos:exactMatch OMIM:621225 congenital myopathy 26 semapv:UnspecifiedMatching MONDO:0979229 congenital myopathy 26 skos:exactMatch UMLS:C6012732 semapv:UnspecifiedMatching MONDO:0979230 spastic ataxia 11, autosomal dominant skos:exactMatch MEDGEN:1876498 semapv:UnspecifiedMatching MONDO:0979230 spastic ataxia 11, autosomal dominant skos:exactMatch OMIM:621226 spastic ataxia 11, autosomal dominant semapv:UnspecifiedMatching MONDO:0979230 spastic ataxia 11, autosomal dominant skos:exactMatch UMLS:C6012733 semapv:UnspecifiedMatching MONDO:0979231 oocyte/zygote/embryo maturation arrest 23 skos:exactMatch MEDGEN:1876458 semapv:UnspecifiedMatching MONDO:0979231 oocyte/zygote/embryo maturation arrest 23 skos:exactMatch OMIM:621231 oocyte/zygote/embryo maturation arrest 23 semapv:UnspecifiedMatching MONDO:0979231 oocyte/zygote/embryo maturation arrest 23 skos:exactMatch UMLS:C6012734 semapv:UnspecifiedMatching MONDO:0979232 oocyte/zygote/embryo maturation arrest 24 skos:exactMatch MEDGEN:1876453 semapv:UnspecifiedMatching MONDO:0979232 oocyte/zygote/embryo maturation arrest 24 skos:exactMatch OMIM:621232 oocyte/zygote/embryo maturation arrest 24 semapv:UnspecifiedMatching MONDO:0979232 oocyte/zygote/embryo maturation arrest 24 skos:exactMatch UMLS:C6012735 semapv:UnspecifiedMatching MONDO:0979233 immunodysregulation with variable immunodeficiency and autoimmunity skos:exactMatch MEDGEN:1876466 semapv:UnspecifiedMatching MONDO:0979233 immunodysregulation with variable immunodeficiency and autoimmunity skos:exactMatch OMIM:621233 immunodysregulation with variable immunodeficiency and autoimmunity semapv:UnspecifiedMatching MONDO:0979233 immunodysregulation with variable immunodeficiency and autoimmunity skos:exactMatch UMLS:C6012736 semapv:UnspecifiedMatching MONDO:0979234 ICHAD syndrome skos:exactMatch MEDGEN:1876542 semapv:UnspecifiedMatching MONDO:0979234 ICHAD syndrome skos:exactMatch OMIM:621234 ICHAD syndrome semapv:UnspecifiedMatching MONDO:0979234 ICHAD syndrome skos:exactMatch Orphanet:699599 ICHAD syndrome semapv:UnspecifiedMatching MONDO:0979234 ICHAD syndrome skos:exactMatch UMLS:C6012290 semapv:UnspecifiedMatching MONDO:0979235 autoimmune disease, multisystem, infantile-onset, 5 skos:exactMatch DOID:0061164 infantile onset multisystem autoimmune disease 5 semapv:UnspecifiedMatching MONDO:0979235 autoimmune disease, multisystem, infantile-onset, 5 skos:exactMatch MEDGEN:1876460 semapv:UnspecifiedMatching MONDO:0979235 autoimmune disease, multisystem, infantile-onset, 5 skos:exactMatch OMIM:621235 autoimmune disease, multisystem, infantile-onset, 5 semapv:UnspecifiedMatching MONDO:0979235 autoimmune disease, multisystem, infantile-onset, 5 skos:exactMatch UMLS:C6012737 semapv:UnspecifiedMatching MONDO:0979236 cardiomyopathy, dilated, 2l skos:exactMatch MEDGEN:1876511 semapv:UnspecifiedMatching MONDO:0979236 cardiomyopathy, dilated, 2l skos:exactMatch OMIM:621237 cardiomyopathy, dilated, 2l semapv:UnspecifiedMatching MONDO:0979236 cardiomyopathy, dilated, 2l skos:exactMatch UMLS:C6012739 semapv:UnspecifiedMatching MONDO:0979237 pulmonary hypertension, primary, 7 skos:exactMatch MEDGEN:1876459 semapv:UnspecifiedMatching MONDO:0979237 pulmonary hypertension, primary, 7 skos:exactMatch OMIM:621248 pulmonary hypertension, primary, 7 semapv:UnspecifiedMatching MONDO:0979237 pulmonary hypertension, primary, 7 skos:exactMatch UMLS:C6012740 semapv:UnspecifiedMatching MONDO:0979238 developmental and epileptic encephalopathy 118 skos:exactMatch DOID:0061176 developmental and epileptic encephalopathy 118 semapv:UnspecifiedMatching MONDO:0979238 developmental and epileptic encephalopathy 118 skos:exactMatch MEDGEN:1876501 semapv:UnspecifiedMatching MONDO:0979238 developmental and epileptic encephalopathy 118 skos:exactMatch OMIM:621250 developmental and epileptic encephalopathy 118 semapv:UnspecifiedMatching MONDO:0979238 developmental and epileptic encephalopathy 118 skos:exactMatch UMLS:C6012741 semapv:UnspecifiedMatching MONDO:0979239 cardiomyopathy, dilated, 1QQ skos:exactMatch MEDGEN:1876479 semapv:UnspecifiedMatching MONDO:0979239 cardiomyopathy, dilated, 1QQ skos:exactMatch OMIM:621251 cardiomyopathy, dilated, 1qq semapv:UnspecifiedMatching MONDO:0979239 cardiomyopathy, dilated, 1QQ skos:exactMatch UMLS:C6012742 semapv:UnspecifiedMatching MONDO:0979240 cataract, alopecia, oral mucosal disorder, and psoriasis-like syndrome skos:exactMatch MEDGEN:1876523 semapv:UnspecifiedMatching MONDO:0979240 cataract, alopecia, oral mucosal disorder, and psoriasis-like syndrome skos:exactMatch OMIM:621252 cataract, alopecia, oral mucosal disorder, and psoriasis-like syndrome semapv:UnspecifiedMatching MONDO:0979240 cataract, alopecia, oral mucosal disorder, and psoriasis-like syndrome skos:exactMatch UMLS:C6012743 semapv:UnspecifiedMatching MONDO:0979241 fanconi anemia, complementation group 10 skos:exactMatch MEDGEN:1876506 semapv:UnspecifiedMatching MONDO:0979241 fanconi anemia, complementation group 10 skos:exactMatch OMIM:621258 fanconi anemia, complementation group 10 semapv:UnspecifiedMatching MONDO:0979241 fanconi anemia, complementation group 10 skos:exactMatch UMLS:C6012745 semapv:UnspecifiedMatching MONDO:0979242 short-rib thoracic dysplasia 22 without polydactyly skos:exactMatch OMIM:621260 short-rib thoracic dysplasia 22 without polydactyly semapv:UnspecifiedMatching MONDO:0979243 cardiomyopathy, dilated, 2M skos:exactMatch MEDGEN:1876496 semapv:UnspecifiedMatching MONDO:0979243 cardiomyopathy, dilated, 2M skos:exactMatch OMIM:621261 cardiomyopathy, dilated, 2m semapv:UnspecifiedMatching MONDO:0979243 cardiomyopathy, dilated, 2M skos:exactMatch UMLS:C6012748 semapv:UnspecifiedMatching MONDO:0979244 Diamond-Blackfan anemia 22 skos:exactMatch MEDGEN:1876480 semapv:UnspecifiedMatching MONDO:0979244 Diamond-Blackfan anemia 22 skos:exactMatch OMIM:621262 diamond-blackfan anemia 22 semapv:UnspecifiedMatching MONDO:0979244 Diamond-Blackfan anemia 22 skos:exactMatch UMLS:C6012749 semapv:UnspecifiedMatching MONDO:0979245 neurodevelopmental disorder with behavioral, ear, and skeletal abnormalities skos:exactMatch MEDGEN:1876448 semapv:UnspecifiedMatching MONDO:0979245 neurodevelopmental disorder with behavioral, ear, and skeletal abnormalities skos:exactMatch OMIM:621263 neurodevelopmental disorder with behavioral, ear, and skeletal abnormalities semapv:UnspecifiedMatching MONDO:0979245 neurodevelopmental disorder with behavioral, ear, and skeletal abnormalities skos:exactMatch UMLS:C6012750 semapv:UnspecifiedMatching MONDO:0979246 Nil-Deshwar neurodevelopmental syndrome skos:exactMatch DOID:0070652 Nil-Deshwan neurodevelopmental syndrome semapv:UnspecifiedMatching MONDO:0979246 Nil-Deshwar neurodevelopmental syndrome skos:exactMatch MEDGEN:1876470 semapv:UnspecifiedMatching MONDO:0979246 Nil-Deshwar neurodevelopmental syndrome skos:exactMatch OMIM:621265 nil-deshwar neurodevelopmental syndrome semapv:UnspecifiedMatching MONDO:0979246 Nil-Deshwar neurodevelopmental syndrome skos:exactMatch UMLS:C6012751 semapv:UnspecifiedMatching MONDO:0979249 myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis skos:exactMatch OMIMPS:620138 Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis semapv:UnspecifiedMatching MONDO:0979250 rhabdomyolysis, susceptibility to skos:exactMatch OMIMPS:620235 Rhabdomyolysis, susceptibility to semapv:UnspecifiedMatching MONDO:0979257 isolated anogenital granulomatosis skos:exactMatch Orphanet:692256 Isolated anogenital granulomatosis semapv:UnspecifiedMatching MONDO:0979258 cerebral proliferative angiopathy skos:exactMatch Orphanet:692271 Cerebral proliferative angiopathy semapv:UnspecifiedMatching MONDO:0979259 triglyceride deposit cardiomyovasculopathy skos:exactMatch Orphanet:692305 Triglyceride deposit cardiomyovasculopathy semapv:UnspecifiedMatching MONDO:0979261 RAC2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome skos:exactMatch Orphanet:692812 RAC2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome semapv:UnspecifiedMatching MONDO:0979271 congenital intrahepatic arterioportal fistula skos:exactMatch Orphanet:694228 Congenital intrahepatic arterioportal fistula semapv:UnspecifiedMatching MONDO:0979273 ADAR-related hereditary spastic paraplegia skos:exactMatch Orphanet:694356 ADAR-related hereditary spastic paraplegia semapv:UnspecifiedMatching MONDO:0979280 pure squamous carcinoma of the urothelial tract skos:exactMatch Orphanet:695023 Pure squamous carcinoma of the urothelial tract semapv:UnspecifiedMatching MONDO:0979281 giant omphalocele skos:exactMatch Orphanet:695032 Giant omphalocele semapv:UnspecifiedMatching MONDO:0979282 small omphalocele skos:exactMatch Orphanet:695038 Small omphalocele semapv:UnspecifiedMatching MONDO:0979284 acinar cystic transformation of the pancreas skos:exactMatch MEDGEN:459447 semapv:UnspecifiedMatching MONDO:0979284 acinar cystic transformation of the pancreas skos:exactMatch Orphanet:695131 Acinar cystic transformation of the pancreas semapv:UnspecifiedMatching MONDO:0979284 acinar cystic transformation of the pancreas skos:exactMatch UMLS:C2987221 semapv:UnspecifiedMatching MONDO:0979286 sickle cell-beta zero-thalassemia skos:exactMatch MEDGEN:1885529 semapv:UnspecifiedMatching MONDO:0979286 sickle cell-beta zero-thalassemia skos:exactMatch Orphanet:695140 Sickle cell-beta zero-thalassemia semapv:UnspecifiedMatching MONDO:0979286 sickle cell-beta zero-thalassemia skos:exactMatch UMLS:C3844576 semapv:UnspecifiedMatching MONDO:0979287 sickle cell-beta plus-thalassemia skos:exactMatch Orphanet:695147 Sickle cell-beta plus-thalassemia semapv:UnspecifiedMatching MONDO:0979288 combined immunodeficiency due to dimerization defective IKAROS mutation skos:exactMatch Orphanet:695172 Combined immunodeficiency due to dimerization defective IKAROS mutation semapv:UnspecifiedMatching MONDO:0979290 late-onset combined immunodeficiency due to ICOSL deficiency skos:exactMatch Orphanet:695191 Late-onset combined immunodeficiency due to ICOSL deficiency semapv:UnspecifiedMatching MONDO:0979291 3q26q28 deletion syndrome skos:exactMatch MEDGEN:1882544 semapv:UnspecifiedMatching MONDO:0979291 3q26q28 deletion syndrome skos:exactMatch Orphanet:695611 3q26q28 deletion syndrome semapv:UnspecifiedMatching MONDO:0979291 3q26q28 deletion syndrome skos:exactMatch UMLS:C6010434 semapv:UnspecifiedMatching MONDO:0979292 primary vitreoretinal large b-cell lymphoma skos:exactMatch Orphanet:695631 Primary vitreoretinal large B-cell lymphoma semapv:UnspecifiedMatching MONDO:0979300 PPARG-associated congenital generalized lipodystrophy skos:exactMatch Orphanet:696242 PPARG-associated congenital generalized lipodystrophy semapv:UnspecifiedMatching MONDO:0979307 emergomycosis skos:exactMatch MEDGEN:1722113 semapv:UnspecifiedMatching MONDO:0979307 emergomycosis skos:exactMatch Orphanet:697091 Emergomycosis semapv:UnspecifiedMatching MONDO:0979307 emergomycosis skos:exactMatch UMLS:C5435351 semapv:UnspecifiedMatching MONDO:0979310 lymphoepithelial cyst of the pancreas skos:exactMatch Orphanet:697132 Lymphoepithelial cyst of the pancreas semapv:UnspecifiedMatching MONDO:0979315 combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to IKBKA deficiency skos:exactMatch Orphanet:697403 Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to IKBKA deficiency semapv:UnspecifiedMatching MONDO:0979316 early-onset combined immunodeficiency with low ig due to dominant negative IKAROS mutation skos:exactMatch Orphanet:697414 Early-onset combined immunodeficiency with low Ig due to dominant negative IKAROS mutation semapv:UnspecifiedMatching MONDO:0979317 ST3GAL3-congenital disorder of glycosylation skos:exactMatch Orphanet:697734 ST3GAL3-CDG semapv:UnspecifiedMatching MONDO:0979319 congenital peritoneal encapsulation skos:exactMatch Orphanet:697986 Congenital peritoneal encapsulation semapv:UnspecifiedMatching MONDO:0979323 carotid web skos:exactMatch Orphanet:698260 Carotid web semapv:UnspecifiedMatching MONDO:0979325 annular erythema of infancy skos:exactMatch Orphanet:699057 Annular erythema of infancy semapv:UnspecifiedMatching MONDO:0979326 Fontan-associated liver disease skos:exactMatch MEDGEN:1713226 semapv:UnspecifiedMatching MONDO:0979326 Fontan-associated liver disease skos:exactMatch Orphanet:699068 Fontan-associated liver disease semapv:UnspecifiedMatching MONDO:0979326 Fontan-associated liver disease skos:exactMatch UMLS:C5396814 semapv:UnspecifiedMatching MONDO:0979327 combined immunodeficiency with low Ig due to BCL10 deficiency skos:exactMatch Orphanet:699578 Combined immunodeficiency with low Ig due to BCL10 deficiency semapv:UnspecifiedMatching MONDO:0979328 immune dysregulation with immunodeficiency due to AIOLOS haploinsufficiency skos:exactMatch Orphanet:699590 Immune dysregulation with immunodeficiency due to AIOLOS haploinsufficiency semapv:UnspecifiedMatching MONDO:0979334 necrotizing cellulitis skos:exactMatch MEDGEN:1876743 semapv:UnspecifiedMatching MONDO:0979334 necrotizing cellulitis skos:exactMatch Orphanet:699678 Necrotizing cellulitis semapv:UnspecifiedMatching MONDO:0979334 necrotizing cellulitis skos:exactMatch UMLS:C5979992 semapv:UnspecifiedMatching MONDO:0979335 fibro-adipose vascular anomaly skos:exactMatch Orphanet:699683 Fibro-adipose vascular anomaly semapv:UnspecifiedMatching MONDO:0979337 necrotizing myositis skos:exactMatch MEDGEN:1856271 semapv:UnspecifiedMatching MONDO:0979337 necrotizing myositis skos:exactMatch Orphanet:699702 Necrotizing myositis semapv:UnspecifiedMatching MONDO:0979337 necrotizing myositis skos:exactMatch UMLS:C3715147 semapv:UnspecifiedMatching MONDO:0979339 infantile neuronal ceroid lipofuscinosis 1 skos:exactMatch Orphanet:699718 Infantile CLN1 disease semapv:UnspecifiedMatching MONDO:0979340 late infantile neuronal ceroid lipofuscinosis 1 skos:exactMatch Orphanet:699734 Late infantile CLN1 disease semapv:UnspecifiedMatching MONDO:0979341 juvenile neuronal ceroid lipofuscinosis 1 skos:exactMatch Orphanet:699739 Juvenile CLN1 disease semapv:UnspecifiedMatching MONDO:0979342 adult neuronal ceroid lipofuscinosis 1 skos:exactMatch Orphanet:699745 Adult CLN1 disease semapv:UnspecifiedMatching MONDO:0979343 infantile neuronal ceroid lipofuscinosis 2 skos:exactMatch Orphanet:699751 Infantile CLN2 disease semapv:UnspecifiedMatching MONDO:0979344 late infantile neuronal ceroid lipofuscinosis 2 skos:exactMatch Orphanet:699761 Late infantile CLN2 disease semapv:UnspecifiedMatching MONDO:0979345 juvenile neuronal ceroid lipofuscinosis 2 skos:exactMatch Orphanet:699769 Juvenile CLN2 disease semapv:UnspecifiedMatching MONDO:0979346 juvenile neuronal ceroid lipofuscinosis 3 skos:exactMatch Orphanet:699780 Juvenile CLN3 disease semapv:UnspecifiedMatching MONDO:0979347 protracted juvenile neuronal ceroid lipofuscinosis 3 skos:exactMatch Orphanet:699796 Protracted juvenile CLN3 disease semapv:UnspecifiedMatching MONDO:0979348 late infantile neuronal ceroid lipofuscinosis 5 skos:exactMatch Orphanet:699802 Late infantile CLN5 disease semapv:UnspecifiedMatching MONDO:0979349 juvenile neuronal ceroid lipofuscinosis 5 skos:exactMatch Orphanet:699807 Juvenile CLN5 disease semapv:UnspecifiedMatching MONDO:0979350 adult neuronal ceroid lipofuscinosis 5 skos:exactMatch Orphanet:699812 Adult CLN5 disease semapv:UnspecifiedMatching MONDO:0979353 2p25.3 microduplication syndrome skos:exactMatch Orphanet:699850 2p25.3 microduplication syndrome semapv:UnspecifiedMatching MONDO:0979354 sickle cell disease due to hemoglobin S and a non-S/non-C hemoglobin variant skos:exactMatch Orphanet:700085 Sickle cell disease due to hemoglobin S and a non-S/non-C hemoglobin variant semapv:UnspecifiedMatching MONDO:0979355 homozygous hemoglobin O Arab disease skos:exactMatch Orphanet:700111 Homozygous hemoglobin O Arab disease semapv:UnspecifiedMatching MONDO:0979356 autosomal recessive hereditary chronic pancreatitis skos:exactMatch Orphanet:700124 Autosomal recessive hereditary chronic pancreatitis semapv:UnspecifiedMatching MONDO:0979357 idiopathic chronic pancreatitis skos:exactMatch MEDGEN:574410 semapv:UnspecifiedMatching MONDO:0979357 idiopathic chronic pancreatitis skos:exactMatch Orphanet:700133 Idiopathic chronic pancreatitis semapv:UnspecifiedMatching MONDO:0979357 idiopathic chronic pancreatitis skos:exactMatch UMLS:C0341471 semapv:UnspecifiedMatching MONDO:0979359 TARDBP-related predominantly upper-limb distal myopathy skos:exactMatch Orphanet:700154 TARDBP-related predominantly upper-limb distal myopathy semapv:UnspecifiedMatching MONDO:0979360 ADNP-related blepharophimosis-intellectual disability syndrome skos:exactMatch Orphanet:700160 ADNP-related blepharophimosis-intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0979361 asymetric thumb-handgrip weakness-distal myopathy skos:exactMatch Orphanet:700170 Asymetric thumb-handgrip weakness-distal myopathy semapv:UnspecifiedMatching MONDO:0979362 calf-predominant weakness-gastrocnemius medialis atrophy-distal myopathy skos:exactMatch Orphanet:700188 Calf-predominant weakness-gastrocnemius medialis atrophy-distal myopathy semapv:UnspecifiedMatching MONDO:0979367 late infantile neuronal ceroid lipofuscinosis 6 skos:exactMatch Orphanet:700467 Late infantile CLN6 disease semapv:UnspecifiedMatching MONDO:0979368 juvenile neuronal ceroid lipofuscinosis 6 skos:exactMatch Orphanet:700472 Juvenile CLN6 disease semapv:UnspecifiedMatching MONDO:0979370 late infantile neuronal ceroid lipofuscinosis 8 skos:exactMatch Orphanet:700484 Late infantile CLN8 disease semapv:UnspecifiedMatching MONDO:0979371 congenital neuronal ceroid lipofuscinosis 10 skos:exactMatch Orphanet:700487 Congenital CLN10 disease semapv:UnspecifiedMatching MONDO:0979372 late infantile neuronal ceroid lipofuscinosis 10 skos:exactMatch Orphanet:700492 Late infantile CLN10 disease semapv:UnspecifiedMatching MONDO:0979373 juvenile neuronal ceroid lipofuscinosis 10 skos:exactMatch Orphanet:700497 Juvenile CLN10 disease semapv:UnspecifiedMatching MONDO:0979570 immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathy skos:exactMatch DOID:0061096 immunodeficiency 133 semapv:UnspecifiedMatching MONDO:0979570 immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathy skos:exactMatch MEDGEN:1876476 semapv:UnspecifiedMatching MONDO:0979570 immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathy skos:exactMatch OMIM:621254 immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathy semapv:UnspecifiedMatching MONDO:0979570 immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathy skos:exactMatch UMLS:C6012744 semapv:UnspecifiedMatching MONDO:0979571 exudative vitreoretinopathy 8 skos:exactMatch MEDGEN:1876521 semapv:UnspecifiedMatching MONDO:0979571 exudative vitreoretinopathy 8 skos:exactMatch OMIM:621268 exudative vitreoretinopathy 8 semapv:UnspecifiedMatching MONDO:0979571 exudative vitreoretinopathy 8 skos:exactMatch UMLS:C6012752 semapv:UnspecifiedMatching MONDO:0979572 spermatogenic failure 101 skos:exactMatch MEDGEN:1876464 semapv:UnspecifiedMatching MONDO:0979572 spermatogenic failure 101 skos:exactMatch OMIM:621269 spermatogenic failure 101 semapv:UnspecifiedMatching MONDO:0979572 spermatogenic failure 101 skos:exactMatch UMLS:C6012753 semapv:UnspecifiedMatching MONDO:0979573 cardiomyopathy, familial hypertrophic, 31 skos:exactMatch MEDGEN:1876513 semapv:UnspecifiedMatching MONDO:0979573 cardiomyopathy, familial hypertrophic, 31 skos:exactMatch OMIM:621270 cardiomyopathy, familial hypertrophic, 31 semapv:UnspecifiedMatching MONDO:0979573 cardiomyopathy, familial hypertrophic, 31 skos:exactMatch UMLS:C6012754 semapv:UnspecifiedMatching MONDO:0979574 retinitis pigmentosa 100 skos:exactMatch MEDGEN:1876473 semapv:UnspecifiedMatching MONDO:0979574 retinitis pigmentosa 100 skos:exactMatch OMIM:621280 retinitis pigmentosa 100 semapv:UnspecifiedMatching MONDO:0979574 retinitis pigmentosa 100 skos:exactMatch UMLS:C6012755 semapv:UnspecifiedMatching MONDO:0979575 intellectual developmental disorder, autosomal dominant 76 skos:exactMatch MEDGEN:1876508 semapv:UnspecifiedMatching MONDO:0979575 intellectual developmental disorder, autosomal dominant 76 skos:exactMatch OMIM:621285 intellectual developmental disorder, autosomal dominant 76 semapv:UnspecifiedMatching MONDO:0979575 intellectual developmental disorder, autosomal dominant 76 skos:exactMatch UMLS:C6012756 semapv:UnspecifiedMatching MONDO:0979865 Popov-Chang syndrome skos:exactMatch OMIM:618428 popov-chang syndrome semapv:UnspecifiedMatching MONDO:0979866 oculovertebral syndrome skos:exactMatch OMIM:621277 oculovertebral syndrome semapv:UnspecifiedMatching MONDO:0979867 cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 1 skos:exactMatch DOID:0061227 semapv:UnspecifiedMatching MONDO:0979867 cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 1 skos:exactMatch OMIM:621295 cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 1 semapv:UnspecifiedMatching MONDO:0979871 Alsahan-Harris syndrome skos:exactMatch OMIM:621307 alsahan-harris syndrome semapv:UnspecifiedMatching MONDO:0979872 developmental dysplasia of the hip 4 skos:exactMatch OMIM:621311 developmental dysplasia of the hip 4 semapv:UnspecifiedMatching MONDO:0979873 brain small vessel disease 4 skos:exactMatch DOID:0061234 semapv:UnspecifiedMatching MONDO:0979873 brain small vessel disease 4 skos:exactMatch OMIM:621313 brain small vessel disease 4 semapv:UnspecifiedMatching MONDO:0979875 neurodevelopmental disorder with achalasia, polyneuropathy, and alacrima skos:exactMatch OMIM:621328 neurodevelopmental disorder with achalasia, polyneuropathy, and alacrima semapv:UnspecifiedMatching MONDO:0979876 Wilms tumor 7 skos:exactMatch OMIM:621332 wilms tumor 7 semapv:UnspecifiedMatching MONDO:0979877 Ververi-Brady syndrome skos:exactMatch MEDGEN:1647785 semapv:UnspecifiedMatching MONDO:0979877 Ververi-Brady syndrome skos:exactMatch OMIMPS:617982 Ververi-Brady syndrome semapv:UnspecifiedMatching MONDO:0979877 Ververi-Brady syndrome skos:exactMatch UMLS:C4693824 semapv:UnspecifiedMatching MONDO:0979880 brain small vessel disease 5 with osteoporosis skos:exactMatch DOID:0061235 semapv:UnspecifiedMatching MONDO:0979880 brain small vessel disease 5 with osteoporosis skos:exactMatch OMIM:621331 brain small vessel disease 5 with osteoporosis semapv:UnspecifiedMatching MONDO:0979881 infection-induced acute-onset axonal neuropathy skos:exactMatch OMIM:621333 infection-induced acute-onset axonal neuropathy semapv:UnspecifiedMatching MONDO:0979883 cranioectodermal dysplasia 6 skos:exactMatch OMIM:621337 cranioectodermal dysplasia 6 semapv:UnspecifiedMatching MONDO:0979885 acute calcific periarthritis skos:exactMatch DOID:0051058 acute calcific periarthritis semapv:UnspecifiedMatching MONDO:0979897 congenital myopathy 27 skos:exactMatch OMIM:621343 congenital myopathy 27 semapv:UnspecifiedMatching MONDO:0979898 Dursun-Ozgul neurodevelopmental syndrome skos:exactMatch OMIM:621344 dursun-ozgul neurodevelopmental syndrome semapv:UnspecifiedMatching MONDO:0979899 spondyloepiphyseal dysplasia, Holling type skos:exactMatch OMIM:621345 spondyloepiphyseal dysplasia, holling type semapv:UnspecifiedMatching MONDO:0979905 ptosis, hereditary congenital, 1 skos:exactMatch DOID:0061149 hereditary congenital ptosis 1 semapv:UnspecifiedMatching MONDO:0979905 ptosis, hereditary congenital, 1 skos:exactMatch OMIM:178300 ptosis, hereditary congenital 1 semapv:UnspecifiedMatching MONDO:0980699 neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speech skos:exactMatch OMIM:621354 neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speech semapv:UnspecifiedMatching MONDO:0980700 neurodevelopmental disorder with speech delay and behavioral abnormalities skos:exactMatch OMIM:621372 neurodevelopmental disorder with speech delay and behavioral abnormalities semapv:UnspecifiedMatching MONDO:0980701 sulfite oxidase deficiency due to molybdenum cofactor deficiency type B2 skos:exactMatch OMIM:621373 molybdenum cofactor deficiency, type b2 semapv:UnspecifiedMatching MONDO:0980702 immune dysregulation, neurodevelopmental defects, and colitis skos:exactMatch OMIM:621375 immune dysregulation, neurodevelopmental defects, and colitis semapv:UnspecifiedMatching MONDO:0980703 Harel-Tora neurodevelopmental syndrome skos:exactMatch OMIM:621377 harel-tora neurodevelopmental syndrome semapv:UnspecifiedMatching MONDO:0980704 neurocardiorenal malformation syndrome skos:exactMatch OMIM:621379 neurocardiorenal malformation syndrome semapv:UnspecifiedMatching MONDO:0980705 congenital disorder of glycosylation, type IIcc skos:exactMatch OMIM:621381 congenital disorder of glycosylation, type iicc semapv:UnspecifiedMatching MONDO:0980706 neurodevelopmental disorder with behavioral abnormalities and childhood-onset spastic paraplegia skos:exactMatch OMIM:621382 neurodevelopmental disorder with behavioral abnormalities and childhood-onset spastic paraplegia semapv:UnspecifiedMatching MONDO:0980707 Valence-Farazi cerebellar ataxia syndrome skos:exactMatch OMIM:621386 valence-farazi cerebellar ataxia syndrome semapv:UnspecifiedMatching MONDO:0980708 spermatogenic failure 102 skos:exactMatch OMIM:621387 spermatogenic failure 102 semapv:UnspecifiedMatching MONDO:0980709 neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral abnormalities skos:exactMatch OMIM:621390 neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral abnormalities semapv:UnspecifiedMatching MONDO:0980710 neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities skos:exactMatch OMIM:621393 neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities semapv:UnspecifiedMatching MONDO:0980711 brain small vessel disease 6 with leukoencephalopathy skos:exactMatch DOID:0061236 semapv:UnspecifiedMatching MONDO:0980711 brain small vessel disease 6 with leukoencephalopathy skos:exactMatch OMIM:621394 brain small vessel disease 6 with leukoencephalopathy semapv:UnspecifiedMatching MONDO:0980712 dyschromatosis, ichthyosis, deafness, and atopic disease skos:exactMatch OMIM:621400 dyschromatosis, ichthyosis, deafness, and atopic disease semapv:UnspecifiedMatching MONDO:0980715 cardiac conduction disease with or without cardiomyoopathy skos:exactMatch OMIMPS:616117 Cardiac conduction disease with or without cardiomyoopathy semapv:UnspecifiedMatching MONDO:0980715 cardiac conduction disease with or without cardiomyoopathy skos:exactMatch Orphanet:436242 Hereditary atrial tachyarrhythmia-infra-Hisian cardiac conduction disease semapv:UnspecifiedMatching MONDO:0980721 rhabdomyolysis, susceptibility to, 2 skos:exactMatch MEDGEN:1876478 semapv:UnspecifiedMatching MONDO:0980721 rhabdomyolysis, susceptibility to, 2 skos:exactMatch OMIM:621236 rhabdomyolysis, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0980721 rhabdomyolysis, susceptibility to, 2 skos:exactMatch UMLS:C6012738 semapv:UnspecifiedMatching MONDO:0980722 Stargardt disease 5 skos:exactMatch DOID:0061240 semapv:UnspecifiedMatching MONDO:0980722 Stargardt disease 5 skos:exactMatch MEDGEN:1876540 semapv:UnspecifiedMatching MONDO:0980722 Stargardt disease 5 skos:exactMatch OMIM:621259 stargardt disease 5 semapv:UnspecifiedMatching MONDO:0980722 Stargardt disease 5 skos:exactMatch UMLS:C6012746 semapv:UnspecifiedMatching MONDO:0980723 fetomaternal alloimmune thrombocytopenia 1 skos:exactMatch MEDGEN:356917 semapv:UnspecifiedMatching MONDO:0980723 fetomaternal alloimmune thrombocytopenia 1 skos:exactMatch OMIM:621264 fetomaternal alloimmune thrombocytopenia 1 semapv:UnspecifiedMatching MONDO:0980723 fetomaternal alloimmune thrombocytopenia 1 skos:exactMatch UMLS:C1868202 semapv:UnspecifiedMatching MONDO:0980724 fetomaternal alloimmune thrombocytopenia 2 skos:exactMatch OMIM:621266 fetomaternal alloimmune thrombocytopenia 2 semapv:UnspecifiedMatching MONDO:0980725 fetomaternal alloimmune thrombocytopenia 3 skos:exactMatch OMIM:621267 fetomaternal alloimmune thrombocytopenia 3 semapv:UnspecifiedMatching MONDO:0980726 Ververi-Brady syndrome 2 skos:exactMatch OMIM:621325 ververi-brady syndrome 2 semapv:UnspecifiedMatching MONDO:0980727 developmental delay with variable cardiac and renal congenital anomalies and dysmorphic facies skos:exactMatch OMIM:621384 developmental delay with variable cardiac and renal congenital anomalies and dysmorphic facies semapv:UnspecifiedMatching MONDO:0980728 developmental delay with sleep apnea skos:exactMatch OMIM:621402 developmental delay with sleep apnea semapv:UnspecifiedMatching MONDO:0980729 immunodeficiency 134 (Epstein-Barr virus-specific) skos:exactMatch OMIM:621405 immunodeficiency 134 (epstein-barr virus-specific) semapv:UnspecifiedMatching MONDO:0980732 Pitt-Hopkins or Pitt-Hopkins-like syndrome skos:exactMatch OMIMPS:610954 Pitt-Hopkins syndrome semapv:UnspecifiedMatching MONDO:0980735 left ventricular failure skos:exactMatch DOID:0051064 left ventricular failure semapv:UnspecifiedMatching MONDO:0980737 arterionephrosclerosis skos:exactMatch DOID:0051066 arterionephrosclerosis semapv:UnspecifiedMatching MONDO:0980739 muscle dysmorphic disorder skos:exactMatch DOID:0070661 muscle dysmorphic disorder semapv:UnspecifiedMatching MONDO:0980746 intellectual developmental disorder, autosomal recessive 84 skos:exactMatch OMIM:620401 intellectual developmental disorder, autosomal recessive 84 semapv:UnspecifiedMatching MONDO:0980747 brain small vessel disease 2B, autosomal recessive skos:exactMatch DOID:0061233 semapv:UnspecifiedMatching MONDO:0980747 brain small vessel disease 2B, autosomal recessive skos:exactMatch OMIM:621414 brain small vessel disease 2b, autosomal recessive semapv:UnspecifiedMatching MONDO:0980748 intellectual developmental disorder, autosomal dominant 77 skos:exactMatch OMIM:621415 intellectual developmental disorder, autosomal dominant 77 semapv:UnspecifiedMatching MONDO:0980749 apolipoprotein A-II deficiency skos:exactMatch MEDGEN:854810 semapv:UnspecifiedMatching MONDO:0980749 apolipoprotein A-II deficiency skos:exactMatch OMIM:621417 apolipoprotein a-ii deficiency semapv:UnspecifiedMatching MONDO:0980749 apolipoprotein A-II deficiency skos:exactMatch UMLS:C3888202 semapv:UnspecifiedMatching MONDO:0980751 Ramond-Elliott neurodevelopmental syndrome skos:exactMatch OMIM:621421 ramond-elliott neurodevelopmental syndrome semapv:UnspecifiedMatching MONDO:0980752 leukoencephalopathy without lacunae, adult-onset skos:exactMatch OMIM:621424 leukoencephalopathy without lacunae, adult-onset semapv:UnspecifiedMatching MONDO:0980755 mitochondrial complex IV deficiency, nuclear type 24 skos:exactMatch OMIM:621431 mitochondrial complex 4 deficiency, nuclear type 24 semapv:UnspecifiedMatching MONDO:0980756 congenital myopathy 28 with rigid spine skos:exactMatch OMIM:621433 congenital myopathy 28 with rigid spine semapv:UnspecifiedMatching MONDO:0980757 periodontitis, aggressive skos:exactMatch OMIMPS:170650 Periodontitis, aggressive semapv:UnspecifiedMatching MONDO:0980759 follicular lymphoma, susceptibility to skos:exactMatch OMIMPS:613024 Follicular lymphoma, susceptibility to semapv:UnspecifiedMatching MONDO:0980763 dental radicular dysplasia skos:exactMatch OMIM:621434 dental radicular dysplasia semapv:UnspecifiedMatching MONDO:0980764 scoliosis, isolated, susceptibility to skos:exactMatch OMIMPS:181800 Scoliosis, isolated, susceptibility to semapv:UnspecifiedMatching MONDO:0980767 lipofibromatosis skos:exactMatch DOID:0070665 lipofibromatosis semapv:UnspecifiedMatching MONDO:0980935 microcephaly, progressive, with simplified gyral pattern and cerebellar hypoplasia skos:exactMatch OMIM:621436 microcephaly, progressive, with simplified gyral pattern and cerebellar hypoplasia semapv:UnspecifiedMatching MONDO:0980936 neutropenia, severe congenital, 12, autosomal recessive skos:exactMatch OMIM:621439 neutropenia, severe congenital, 12, autosomal recessive semapv:UnspecifiedMatching MONDO:0980937 oculopharyngodistal myopathy 5 skos:exactMatch OMIM:621446 oculopharyngodistal myopathy 5 semapv:UnspecifiedMatching MONDO:0980938 osteopetrosis, autosomal dominant 4 skos:exactMatch OMIM:621449 osteopetrosis, autosomal dominant 4 semapv:UnspecifiedMatching MONDO:0980939 basal ganglia calcification, idiopathic, 11, autosomal recessive skos:exactMatch OMIM:621452 basal ganglia calcification, idiopathic, 11, autosomal recessive semapv:UnspecifiedMatching MONDO:0980940 neurodevelopmental disorder with hypotonia, epilepsy, and absent speech skos:exactMatch OMIM:621455 neurodevelopmental disorder with hypotonia, epilepsy, and absent speech semapv:UnspecifiedMatching MONDO:0980941 neurodevelopmental disorder with speech delay, movement abnormalities, and seizures skos:exactMatch OMIM:621456 neurodevelopmental disorder with speech delay, movement abnormalities, and seizures semapv:UnspecifiedMatching MONDO:0980942 intellectual developmental disorder with seizures and dysmorphic facies skos:exactMatch OMIM:621457 intellectual developmental disorder with seizures and dysmorphic facies semapv:UnspecifiedMatching MONDO:0980947 neurodevelopmental disorder with spasticity, thin corpus callosum, and decreased brain white matter skos:exactMatch OMIM:621460 semapv:UnspecifiedMatching MONDO:0980948 developmental and epileptic encephalopathy 120 skos:exactMatch OMIM:621468 semapv:UnspecifiedMatching MONDO:0980949 Moyamoya disease 8 skos:exactMatch OMIM:621469 semapv:UnspecifiedMatching MONDO:0980963 Charcot-Marie-Tooth disease, axonal, type 2KK skos:exactMatch OMIM:621466 semapv:UnspecifiedMatching MONDO:0980964 oocyte/zygote/embryo maturation arrest 25 skos:exactMatch OMIM:621471 semapv:UnspecifiedMatching MONDO:0980965 neurodevelopmental disorder with congenital cardiac defects and variable renal and ocular abnormalities skos:exactMatch OMIM:621474 semapv:UnspecifiedMatching MONDO:0980966 developmental and epileptic encephalopathy 121 skos:exactMatch OMIM:621475 semapv:UnspecifiedMatching MONDO:0980967 mitochondrial dna depletion syndrome 14A (encephalomyopathic type) skos:exactMatch OMIM:621481 semapv:UnspecifiedMatching MONDO:0980968 neurodevelopmental disorder with seizures, hypotonia, and variable spasticity skos:exactMatch OMIM:621482 semapv:UnspecifiedMatching MONDO:0980969 Charcot-Marie-Tooth disease, axonal, type 2LL skos:exactMatch OMIM:621485 semapv:UnspecifiedMatching MONDO:0980970 mitochondrial complex 4 deficiency, nuclear type 25 skos:exactMatch OMIM:621487 semapv:UnspecifiedMatching MONDO:0980971 charcot-marie-tooth disease, axonal, type 2MM skos:exactMatch OMIM:621488 semapv:UnspecifiedMatching MONDO:0980972 hypotrichosis 16 skos:exactMatch OMIM:621490 semapv:UnspecifiedMatching MONDO:0980973 STAD syndrome skos:exactMatch OMIM:621495 semapv:UnspecifiedMatching MONDO:0980974 craniosynostosis-scoliosis syndrome skos:exactMatch OMIM:621499 semapv:UnspecifiedMatching MONDO:0980986 scoliosis, isolated, susceptibility to, 6 skos:exactMatch OMIM:621428 scoliosis, isolated, susceptibility to, 6 semapv:UnspecifiedMatching MONDO:0980987 xeroderma pigmentosum, complementation group J skos:exactMatch OMIM:621435 xeroderma pigmentosum, complementation group j semapv:UnspecifiedMatching MONDO:0980988 epilepsy, idiopathic generalized 20 skos:exactMatch OMIM:621500 semapv:UnspecifiedMatching MONDO:0980989 dystonia 38, susceptibility to skos:exactMatch OMIM:621502 semapv:UnspecifiedMatching MONDO:0980990 neurodevelopmental disorder with parkinsonism or other movement abnormalities skos:exactMatch OMIM:621506 semapv:UnspecifiedMatching MONDO:0980991 microcephaly 31, primary, autosomal recessive skos:exactMatch OMIM:621507 semapv:UnspecifiedMatching MONDO:0980992 Meier-Gorlin syndrome 9 skos:exactMatch OMIM:621512 semapv:UnspecifiedMatching MONDO:0980997 fibromuscular dysplasia of the cervical and intracranial arteries skos:exactMatch Orphanet:698036 Fibromuscular dysplasia of the cervical and intracranial arteries semapv:UnspecifiedMatching MONDO:0980998 fibromuscular dysplasia of the renal arteries skos:exactMatch Orphanet:698043 Fibromuscular dysplasia of the renal arteries semapv:UnspecifiedMatching MONDO:0980999 fibromuscular dysplasia of the coronary arteries skos:exactMatch Orphanet:698059 Fibromuscular dysplasia of the coronary arteries semapv:UnspecifiedMatching MONDO:0981000 fibromuscular dysplasia of the visceral arteries skos:exactMatch Orphanet:698063 Fibromuscular dysplasia of the visceral arteries semapv:UnspecifiedMatching MONDO:0981001 fibromuscular dysplasia of the arteries of the extremities skos:exactMatch Orphanet:698069 Fibromuscular dysplasia of the arteries of the extremities semapv:UnspecifiedMatching MONDO:0981004 sickle cell S-Lepore disease skos:exactMatch Orphanet:699822 Sickle cell S-Lepore disease semapv:UnspecifiedMatching MONDO:0981005 sickle cell S-O Arab disease skos:exactMatch Orphanet:700090 Sickle cell S-O Arab disease semapv:UnspecifiedMatching MONDO:0981007 early-onset idiopathic chronic pancreatitis skos:exactMatch Orphanet:700136 Early-onset idiopathic chronic pancreatitis semapv:UnspecifiedMatching MONDO:0981008 late-onset idiopathic chronic pancreatitis skos:exactMatch Orphanet:700139 Late-onset idiopathic chronic pancreatitis semapv:UnspecifiedMatching MONDO:0981022 cardiomyopathy, dilated, 3C skos:exactMatch OMIM:301163 semapv:UnspecifiedMatching MONDO:0981023 spondylocostal dysostosis 7, autosomal recessive skos:exactMatch OMIM:621523 semapv:UnspecifiedMatching MONDO:0981024 neurodegenerative disorder with cerebellar and caudate atrophy skos:exactMatch OMIM:621525 semapv:UnspecifiedMatching MONDO:1010000 pythiosis skos:broadMatch mesh:D058968 semapv:UnspecifiedMatching MONDO:1010000 pythiosis skos:exactMatch MEDGEN:124447 semapv:UnspecifiedMatching MONDO:1010000 pythiosis skos:exactMatch UMLS:C0276912 semapv:UnspecifiedMatching MONDO:1010000 pythiosis skos:exactMatch icd11.foundation:1571230529 Pythiosis semapv:UnspecifiedMatching MONDO:1010030 pediatric high-grade glioma skos:exactMatch MEDGEN:1861427 semapv:UnspecifiedMatching MONDO:1010030 pediatric high-grade glioma skos:exactMatch NCIT:C202298 Childhood Malignant Glioma semapv:UnspecifiedMatching MONDO:1010030 pediatric high-grade glioma skos:exactMatch UMLS:C5908419 semapv:UnspecifiedMatching MONDO:1010089 hypomyopathic dermatomyositis skos:exactMatch icd11.foundation:619606071 Hypomyopathic dermatomyositis semapv:UnspecifiedMatching MONDO:1010100 myxedema coma skos:exactMatch MEDGEN:536791 semapv:UnspecifiedMatching MONDO:1010100 myxedema coma skos:exactMatch UMLS:C0238298 semapv:UnspecifiedMatching MONDO:1010108 myxedema heart disease skos:exactMatch MEDGEN:526137 semapv:UnspecifiedMatching MONDO:1010108 myxedema heart disease skos:exactMatch UMLS:C0221048 semapv:UnspecifiedMatching MONDO:1010111 loin pain hematuria syndrome skos:exactMatch MEDGEN:78696 semapv:UnspecifiedMatching MONDO:1010111 loin pain hematuria syndrome skos:exactMatch UMLS:C0268712 semapv:UnspecifiedMatching MONDO:1010117 sudden unexplained death in childhood skos:exactMatch MEDGEN:820021 semapv:UnspecifiedMatching MONDO:1010117 sudden unexplained death in childhood skos:exactMatch UMLS:C3827273 semapv:UnspecifiedMatching MONDO:1010122 trichrome vitiligo skos:exactMatch MEDGEN:697977 semapv:UnspecifiedMatching MONDO:1010122 trichrome vitiligo skos:exactMatch SCTID:403270009 semapv:UnspecifiedMatching MONDO:1010122 trichrome vitiligo skos:exactMatch UMLS:C1274649 semapv:UnspecifiedMatching MONDO:1010125 generalized vitiligo skos:exactMatch MEDGEN:725821 semapv:UnspecifiedMatching MONDO:1010125 generalized vitiligo skos:exactMatch UMLS:C1304470 semapv:UnspecifiedMatching MONDO:1010128 peritonitis skos:exactMatch ICD10WHO:K65 Peritonitis semapv:UnspecifiedMatching MONDO:1010128 peritonitis skos:exactMatch MEDGEN:14697 semapv:UnspecifiedMatching MONDO:1010128 peritonitis skos:exactMatch UMLS:C0031154 semapv:UnspecifiedMatching MONDO:1010128 peritonitis skos:exactMatch icd11.foundation:775356003 Peritonitis semapv:UnspecifiedMatching MONDO:1010128 peritonitis skos:exactMatch mesh:D010538 semapv:UnspecifiedMatching MONDO:1010131 encapsulating peritoneal sclerosis skos:exactMatch MEDGEN:439295 semapv:UnspecifiedMatching MONDO:1010131 encapsulating peritoneal sclerosis skos:exactMatch Orphanet:696175 Encapsulating peritoneal sclerosis semapv:UnspecifiedMatching MONDO:1010131 encapsulating peritoneal sclerosis skos:exactMatch UMLS:C2717860 semapv:UnspecifiedMatching MONDO:1010131 encapsulating peritoneal sclerosis skos:exactMatch icd11.foundation:1269928839 Chronic proliferative peritonitis semapv:UnspecifiedMatching MONDO:1010148 benign skeletal muscle neoplasm skos:exactMatch MEDGEN:234035 semapv:UnspecifiedMatching MONDO:1010148 benign skeletal muscle neoplasm skos:exactMatch UMLS:C1332538 semapv:UnspecifiedMatching MONDO:1010151 gallbladder disease 4 skos:exactMatch MEDGEN:370601 semapv:UnspecifiedMatching MONDO:1010151 gallbladder disease 4 skos:exactMatch OMIM:611465 gallbladder disease 4 semapv:UnspecifiedMatching MONDO:1010151 gallbladder disease 4 skos:exactMatch UMLS:C1969115 semapv:UnspecifiedMatching MONDO:1010154 adult hypophosphatasia skos:exactMatch DOID:0110913 adult hypophosphatasia semapv:UnspecifiedMatching MONDO:1010154 adult hypophosphatasia skos:exactMatch MEDGEN:120636 semapv:UnspecifiedMatching MONDO:1010154 adult hypophosphatasia skos:exactMatch OMIM:146300 hypophosphatasia, adult semapv:UnspecifiedMatching MONDO:1010154 adult hypophosphatasia skos:exactMatch Orphanet:247676 Adult hypophosphatasia semapv:UnspecifiedMatching MONDO:1010154 adult hypophosphatasia skos:exactMatch SCTID:20756002 semapv:UnspecifiedMatching MONDO:1010154 adult hypophosphatasia skos:exactMatch UMLS:C0268413 semapv:UnspecifiedMatching MONDO:1010168 childhood hypophosphatasia skos:exactMatch DOID:0110915 childhood hypophosphatasia semapv:UnspecifiedMatching MONDO:1010168 childhood hypophosphatasia skos:exactMatch MEDGEN:65089 semapv:UnspecifiedMatching MONDO:1010168 childhood hypophosphatasia skos:exactMatch OMIM:241510 hypophosphatasia, childhood semapv:UnspecifiedMatching MONDO:1010168 childhood hypophosphatasia skos:exactMatch Orphanet:247667 Childhood-onset hypophosphatasia semapv:UnspecifiedMatching MONDO:1010168 childhood hypophosphatasia skos:exactMatch SCTID:30174008 semapv:UnspecifiedMatching MONDO:1010168 childhood hypophosphatasia skos:exactMatch UMLS:C0220743 semapv:UnspecifiedMatching MONDO:1010168 childhood hypophosphatasia skos:exactMatch mesh:C562440 semapv:UnspecifiedMatching MONDO:1010169 infantile hypophosphatasia skos:exactMatch DOID:0110914 infantile hypophosphatasia semapv:UnspecifiedMatching MONDO:1010169 infantile hypophosphatasia skos:exactMatch MEDGEN:75677 semapv:UnspecifiedMatching MONDO:1010169 infantile hypophosphatasia skos:exactMatch OMIM:241500 hypophosphatasia, infantile semapv:UnspecifiedMatching MONDO:1010169 infantile hypophosphatasia skos:exactMatch Orphanet:247651 Infantile hypophosphatasia semapv:UnspecifiedMatching MONDO:1010169 infantile hypophosphatasia skos:exactMatch SCTID:55236002 semapv:UnspecifiedMatching MONDO:1010169 infantile hypophosphatasia skos:exactMatch UMLS:C0268412 semapv:UnspecifiedMatching MONDO:1010169 infantile hypophosphatasia skos:exactMatch icd11.foundation:1832803655 Infantile hypophosphatasia semapv:UnspecifiedMatching MONDO:1010178 CHD7-related CHARGE syndrome skos:exactMatch OMIM:214800 charge syndrome semapv:UnspecifiedMatching MONDO:1010182 premenstrual dysphoric disorder skos:exactMatch MEDGEN:636161 semapv:UnspecifiedMatching MONDO:1010182 premenstrual dysphoric disorder skos:exactMatch UMLS:C0520676 semapv:UnspecifiedMatching MONDO:1010183 macular telangiectasia type 2 skos:exactMatch MEDGEN:1690677 semapv:UnspecifiedMatching MONDO:1010183 macular telangiectasia type 2 skos:exactMatch UMLS:C5232269 semapv:UnspecifiedMatching MONDO:1010184 macular telangiectasia skos:exactMatch MEDGEN:573180 semapv:UnspecifiedMatching MONDO:1010184 macular telangiectasia skos:exactMatch UMLS:C0339480 semapv:UnspecifiedMatching MONDO:1010185 transplant rejection skos:exactMatch MEDGEN:6662 semapv:UnspecifiedMatching MONDO:1010185 transplant rejection skos:exactMatch UMLS:C0018129 semapv:UnspecifiedMatching MONDO:1010200 oocyte/zygote/embryo maturation arrest 16 skos:exactMatch OMIM:617234 oocyte/zygote/embryo maturation arrest 16 semapv:UnspecifiedMatching MONDO:1030001 epilepsy, juvenile absence, susceptibility to skos:exactMatch OMIMPS:607631 Epilepsy, juvenile absence semapv:UnspecifiedMatching MONDO:1030002 dysplasia of the proximal femoral epiphyses skos:exactMatch MEDGEN:481394 semapv:UnspecifiedMatching MONDO:1030002 dysplasia of the proximal femoral epiphyses skos:exactMatch UMLS:C3279764 semapv:UnspecifiedMatching MONDO:1030007 hypertensive urgency skos:exactMatch MEDGEN:677063 semapv:UnspecifiedMatching MONDO:1030007 hypertensive urgency skos:exactMatch NCIT:C197914 Hypertensive Urgency semapv:UnspecifiedMatching MONDO:1030007 hypertensive urgency skos:exactMatch SCTID:443482000 semapv:UnspecifiedMatching MONDO:1030007 hypertensive urgency skos:exactMatch UMLS:C0745138 semapv:UnspecifiedMatching MONDO:1030007 hypertensive urgency skos:exactMatch icd11.foundation:956687992 Hypertensive urgency semapv:UnspecifiedMatching MONDO:1030008 mitral valve insufficiency skos:exactMatch DOID:11502 mitral valve insufficiency semapv:UnspecifiedMatching MONDO:1030008 mitral valve insufficiency skos:exactMatch MEDGEN:7670 semapv:UnspecifiedMatching MONDO:1030008 mitral valve insufficiency skos:exactMatch NCIT:C50888 Mitral Valve Insufficiency semapv:UnspecifiedMatching MONDO:1030008 mitral valve insufficiency skos:exactMatch UMLS:C0026266 semapv:UnspecifiedMatching MONDO:1030008 mitral valve insufficiency skos:exactMatch icd11.foundation:637470326 Mitral valve insufficiency semapv:UnspecifiedMatching MONDO:1030008 mitral valve insufficiency skos:exactMatch mesh:D008944 semapv:UnspecifiedMatching MONDO:1030009 persistent atrial fibrillation skos:exactMatch ICD10CM:I48.1 Persistent atrial fibrillation semapv:UnspecifiedMatching MONDO:1030009 persistent atrial fibrillation skos:exactMatch MEDGEN:749907 semapv:UnspecifiedMatching MONDO:1030009 persistent atrial fibrillation skos:exactMatch SCTID:440059007 semapv:UnspecifiedMatching MONDO:1030009 persistent atrial fibrillation skos:exactMatch UMLS:C2585653 semapv:UnspecifiedMatching MONDO:1030009 persistent atrial fibrillation skos:exactMatch icd11.foundation:519924384 Persistent atrial fibrillation semapv:UnspecifiedMatching MONDO:1030010 precerebral artery stenosis skos:exactMatch MEDGEN:539068 semapv:UnspecifiedMatching MONDO:1030010 precerebral artery stenosis skos:exactMatch SCTID:1055001 semapv:UnspecifiedMatching MONDO:1030010 precerebral artery stenosis skos:exactMatch UMLS:C0265089 semapv:UnspecifiedMatching MONDO:1030011 paroxysmal atrial fibrillation skos:exactMatch ICD10CM:I48.0 Paroxysmal atrial fibrillation semapv:UnspecifiedMatching MONDO:1030011 paroxysmal atrial fibrillation skos:exactMatch MEDGEN:115990 semapv:UnspecifiedMatching MONDO:1030011 paroxysmal atrial fibrillation skos:exactMatch NCIT:C80391 Paroxysmal Atrial Fibrillation semapv:UnspecifiedMatching MONDO:1030011 paroxysmal atrial fibrillation skos:exactMatch SCTID:282825002 semapv:UnspecifiedMatching MONDO:1030011 paroxysmal atrial fibrillation skos:exactMatch UMLS:C0235480 semapv:UnspecifiedMatching MONDO:1030011 paroxysmal atrial fibrillation skos:exactMatch icd11.foundation:542703670 Paroxysmal atrial fibrillation semapv:UnspecifiedMatching MONDO:1030015 acquired porphyria skos:exactMatch MEDGEN:1853291 semapv:UnspecifiedMatching MONDO:1030015 acquired porphyria skos:exactMatch UMLS:C0948592 semapv:UnspecifiedMatching MONDO:1040002 PIK3CA-related overgrowth spectrum skos:exactMatch MEDGEN:1790024 semapv:UnspecifiedMatching MONDO:1040002 PIK3CA-related overgrowth spectrum skos:exactMatch UMLS:C4728213 semapv:UnspecifiedMatching MONDO:1040007 hemihydranencephaly skos:exactMatch MEDGEN:199609 semapv:UnspecifiedMatching MONDO:1040007 hemihydranencephaly skos:exactMatch UMLS:C0751210 semapv:UnspecifiedMatching MONDO:1040007 hemihydranencephaly skos:exactMatch icd11.foundation:642941159 Hemihydranencephaly semapv:UnspecifiedMatching MONDO:1040011 vertebral artery dissection skos:exactMatch MEDGEN:137904 semapv:UnspecifiedMatching MONDO:1040011 vertebral artery dissection skos:exactMatch Orphanet:689001 Isolated spontaneous cervical artery dissection semapv:UnspecifiedMatching MONDO:1040011 vertebral artery dissection skos:exactMatch UMLS:C0338586 semapv:UnspecifiedMatching MONDO:1040014 PPFIA3-related neurodevelopmental disorder skos:exactMatch OMIM:621122 paul-chao neurodevelopmental syndrome semapv:UnspecifiedMatching MONDO:1040016 cerebral artery stenosis skos:exactMatch MEDGEN:760198 semapv:UnspecifiedMatching MONDO:1040016 cerebral artery stenosis skos:exactMatch UMLS:C1504438 semapv:UnspecifiedMatching MONDO:1040017 intestinal fistula skos:exactMatch MEDGEN:5862 semapv:UnspecifiedMatching MONDO:1040017 intestinal fistula skos:exactMatch UMLS:C0021833 semapv:UnspecifiedMatching MONDO:1040024 myelin oligodendrocyte glycoprotein antibody-associated disease skos:exactMatch MEDGEN:1813985 semapv:UnspecifiedMatching MONDO:1040024 myelin oligodendrocyte glycoprotein antibody-associated disease skos:exactMatch UMLS:C5554054 semapv:UnspecifiedMatching MONDO:1040026 metastatic malignant neoplasm in the brain skos:exactMatch MEDGEN:113095 semapv:UnspecifiedMatching MONDO:1040026 metastatic malignant neoplasm in the brain skos:exactMatch UMLS:C0220650 semapv:UnspecifiedMatching MONDO:1040032 EN1-related dorsoventral syndrome skos:exactMatch MEDGEN:1843345 semapv:UnspecifiedMatching MONDO:1040032 EN1-related dorsoventral syndrome skos:exactMatch Orphanet:611223 EN1-related dorsoventral syndrome semapv:UnspecifiedMatching MONDO:1040032 EN1-related dorsoventral syndrome skos:exactMatch UMLS:C5680225 semapv:UnspecifiedMatching MONDO:1040033 congenital muscular dystrophy without intellectual disability skos:exactMatch MEDGEN:1681503 semapv:UnspecifiedMatching MONDO:1040033 congenital muscular dystrophy without intellectual disability skos:exactMatch Orphanet:370980 Congenital muscular dystrophy without intellectual disability semapv:UnspecifiedMatching MONDO:1040033 congenital muscular dystrophy without intellectual disability skos:exactMatch UMLS:C5190847 semapv:UnspecifiedMatching MONDO:1050000 sycosis barbae skos:exactMatch MEDGEN:546837 semapv:UnspecifiedMatching MONDO:1050000 sycosis barbae skos:exactMatch MedDRA:10042731 semapv:UnspecifiedMatching MONDO:1050000 sycosis barbae skos:exactMatch SCTID:156410002 semapv:UnspecifiedMatching MONDO:1050000 sycosis barbae skos:exactMatch UMLS:C0275798 semapv:UnspecifiedMatching MONDO:1050000 sycosis barbae skos:exactMatch icd11.foundation:1245506993 Sycosis barbae semapv:UnspecifiedMatching MONDO:1060108 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome skos:exactMatch MEDGEN:863794 semapv:UnspecifiedMatching MONDO:1060108 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome skos:exactMatch Orphanet:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome semapv:UnspecifiedMatching MONDO:1060108 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome skos:exactMatch UMLS:C4015357 semapv:UnspecifiedMatching MONDO:1060113 Lipschütz ulcer skos:exactMatch MEDGEN:547076 semapv:UnspecifiedMatching MONDO:1060113 Lipschütz ulcer skos:exactMatch UMLS:C0276086 semapv:UnspecifiedMatching MONDO:1060121 adenoacanthoma skos:exactMatch MEDGEN:90777 semapv:UnspecifiedMatching MONDO:1060121 adenoacanthoma skos:exactMatch UMLS:C0334393 semapv:UnspecifiedMatching MONDO:1060125 congenital high airway obstruction syndrome skos:exactMatch MEDGEN:1875656 semapv:UnspecifiedMatching MONDO:1060125 congenital high airway obstruction syndrome skos:exactMatch Orphanet:700286 Congenital high airway obstruction syndrome semapv:UnspecifiedMatching MONDO:1060125 congenital high airway obstruction syndrome skos:exactMatch UMLS:C3665871 semapv:UnspecifiedMatching MONDO:1060126 exogenous Cushing syndrome skos:exactMatch MEDGEN:543520 semapv:UnspecifiedMatching MONDO:1060126 exogenous Cushing syndrome skos:exactMatch UMLS:C0271725 semapv:UnspecifiedMatching MONDO:1060134 atherosclerotic cardiovascular disease skos:exactMatch NCIT:C35771 Atherosclerotic Cardiovascular Disease semapv:UnspecifiedMatching MONDO:1060144 retinitis pigmentosa 7, digenic skos:exactMatch MEDGEN:393414 semapv:UnspecifiedMatching MONDO:1060144 retinitis pigmentosa 7, digenic skos:exactMatch UMLS:C2675552 semapv:UnspecifiedMatching MONDO:1060145 Leber congenital amaurosis 18 skos:exactMatch MEDGEN:861539 semapv:UnspecifiedMatching MONDO:1060145 Leber congenital amaurosis 18 skos:exactMatch UMLS:C4013102 semapv:UnspecifiedMatching MONDO:1060148 empty nose syndrome skos:exactMatch MEDGEN:1876481 semapv:UnspecifiedMatching MONDO:1060148 empty nose syndrome skos:exactMatch UMLS:C3888849 semapv:UnspecifiedMatching MONDO:1060151 schizoaffective bipolar disorder skos:exactMatch MEDGEN:542781 semapv:UnspecifiedMatching MONDO:1060151 schizoaffective bipolar disorder skos:exactMatch UMLS:C0270496 semapv:UnspecifiedMatching MONDO:1060152 schizoaffective depressive disorder skos:exactMatch MEDGEN:542782 semapv:UnspecifiedMatching MONDO:1060152 schizoaffective depressive disorder skos:exactMatch UMLS:C0270497 semapv:UnspecifiedMatching MONDO:1060161 inherited distal renal tubular acidosis skos:exactMatch OMIMPS:179800 Distal renal tubular acidosis semapv:UnspecifiedMatching MONDO:1060171 diffuse midline glioma, H3 K27-altered skos:exactMatch MEDGEN:1811313 semapv:UnspecifiedMatching MONDO:1060171 diffuse midline glioma, H3 K27-altered skos:exactMatch NCIT:C185368 Diffuse Midline Glioma, H3 K27-Altered semapv:UnspecifiedMatching MONDO:1060171 diffuse midline glioma, H3 K27-altered skos:exactMatch UMLS:C5669877 semapv:UnspecifiedMatching MONDO:1060177 developmental and epileptic encephalopathy 119 skos:exactMatch OMIM:621304 developmental and epileptic encephalopathy 119 semapv:UnspecifiedMatching MONDO:1060178 pediatric acute-onset neuropsychiatric syndrome skos:exactMatch MEDGEN:1673298 semapv:UnspecifiedMatching MONDO:1060178 pediatric acute-onset neuropsychiatric syndrome skos:exactMatch UMLS:C5197301 semapv:UnspecifiedMatching MONDO:1060179 RNU5B-1 related neurodevelopmental disorder with seizures and joint laxity skos:exactMatch OMIM:621302 neurodevelopmental disorder with seizures and joint laxity semapv:UnspecifiedMatching MONDO:1060180 brain stem glioblastoma skos:exactMatch MEDGEN:231460 semapv:UnspecifiedMatching MONDO:1060180 brain stem glioblastoma skos:exactMatch NCIT:C5097 Brain Stem Glioblastoma semapv:UnspecifiedMatching MONDO:1060180 brain stem glioblastoma skos:exactMatch UMLS:C1332610 semapv:UnspecifiedMatching MONDO:1060185 systemic lupus erythematosus 18 skos:exactMatch OMIM:621369 systemic lupus erythematosus 18 semapv:UnspecifiedMatching MONDO:1060188 small plaque parapsoriasis skos:exactMatch MEDGEN:75515 semapv:UnspecifiedMatching MONDO:1060188 small plaque parapsoriasis skos:exactMatch NCIT:3921 semapv:UnspecifiedMatching MONDO:1060188 small plaque parapsoriasis skos:exactMatch UMLS:C0263370 semapv:UnspecifiedMatching MONDO:1060189 large plaque parapsoriasis skos:exactMatch MEDGEN:57907 semapv:UnspecifiedMatching MONDO:1060189 large plaque parapsoriasis skos:exactMatch NCIT:C3670 Large Plaque Parapsoriasis semapv:UnspecifiedMatching MONDO:1060189 large plaque parapsoriasis skos:exactMatch UMLS:C0162442 semapv:UnspecifiedMatching MONDO:1060193 X-linked intellectual disability with or without nystagmus skos:exactMatch MEDGEN:476987 semapv:UnspecifiedMatching MONDO:1060193 X-linked intellectual disability with or without nystagmus skos:exactMatch UMLS:C3275356 semapv:UnspecifiedMatching MONDO:1060198 ischemic stroke skos:exactMatch DOID:0051062 ischemic stroke semapv:UnspecifiedMatching MONDO:1060198 ischemic stroke skos:exactMatch MEDGEN:215292 semapv:UnspecifiedMatching MONDO:1060198 ischemic stroke skos:exactMatch UMLS:C0948008 semapv:UnspecifiedMatching MONDO:1060199 hemorrhagic stroke skos:exactMatch DOID:0051063 hemorrhagic stroke semapv:UnspecifiedMatching MONDO:1060199 hemorrhagic stroke skos:exactMatch MEDGEN:1714259 semapv:UnspecifiedMatching MONDO:1060199 hemorrhagic stroke skos:exactMatch UMLS:C5234922 semapv:UnspecifiedMatching MONDO:1060200 primary hyperthyroidism skos:exactMatch MEDGEN:811409 semapv:UnspecifiedMatching MONDO:1060200 primary hyperthyroidism skos:exactMatch UMLS:C3714618 semapv:UnspecifiedMatching MONDO:1060201 secondary hyperthyroidism skos:exactMatch MEDGEN:923144 semapv:UnspecifiedMatching MONDO:1060201 secondary hyperthyroidism skos:exactMatch UMLS:C1095928 semapv:UnspecifiedMatching MONDO:1060202 toxic thyroid adenoma skos:exactMatch MEDGEN:549890 semapv:UnspecifiedMatching MONDO:1060202 toxic thyroid adenoma skos:exactMatch UMLS:C0302840 semapv:UnspecifiedMatching MONDO:1060205 dysmenorrhea skos:exactMatch MEDGEN:4429 semapv:UnspecifiedMatching MONDO:1060205 dysmenorrhea skos:exactMatch UMLS:C0013390 semapv:UnspecifiedMatching MONDO:1060206 primary dysmenorrhea skos:exactMatch MEDGEN:508446 semapv:UnspecifiedMatching MONDO:1060206 primary dysmenorrhea skos:exactMatch UMLS:C0149875 semapv:UnspecifiedMatching MONDO:1060207 secondary dysmenorrhea skos:exactMatch MEDGEN:534931 semapv:UnspecifiedMatching MONDO:1060207 secondary dysmenorrhea skos:exactMatch UMLS:C0232944 semapv:UnspecifiedMatching MONDO:1060208 primary amenorrhea skos:exactMatch MEDGEN:115918 semapv:UnspecifiedMatching MONDO:1060208 primary amenorrhea skos:exactMatch UMLS:C0232939 semapv:UnspecifiedMatching MONDO:1060209 secondary amenorrhea skos:exactMatch MEDGEN:115919 semapv:UnspecifiedMatching MONDO:1060209 secondary amenorrhea skos:exactMatch UMLS:C0232940 semapv:UnspecifiedMatching MONDO:1060213 reticular pseudodrusen skos:exactMatch SCTID:762533006 semapv:UnspecifiedMatching MONDO:7770002 avoidant/restrictive food intake disorder skos:exactMatch DOID:0051057 avoidant/restrictive food intake disorder semapv:UnspecifiedMatching MONDO:7770002 avoidant/restrictive food intake disorder skos:exactMatch ICD10CM:F50.82 Avoidant/restrictive food intake disorder semapv:UnspecifiedMatching MONDO:7770002 avoidant/restrictive food intake disorder skos:exactMatch mesh:D000080146 semapv:UnspecifiedMatching MONDO:7770003 cystic fibrosis-related diabetes skos:exactMatch ICD10CM:E13 Other specified diabetes mellitus semapv:UnspecifiedMatching MONDO:7770004 CFTR-related disorder skos:exactMatch MEDGEN:1854862 semapv:UnspecifiedMatching MONDO:7770004 CFTR-related disorder skos:exactMatch UMLS:C5924204 semapv:UnspecifiedMatching MONDO:8000000 infectious discitis skos:exactMatch EFO:1000900 semapv:UnspecifiedMatching MONDO:8000005 fungal discitis skos:exactMatch MEDGEN:1788782 semapv:UnspecifiedMatching MONDO:8000005 fungal discitis skos:exactMatch UMLS:C5547329 semapv:UnspecifiedMatching MONDO:8000006 WHIM syndrome 1 skos:exactMatch DOID:0060591 WHIM syndrome 1 semapv:UnspecifiedMatching MONDO:8000006 WHIM syndrome 1 skos:exactMatch MEDGEN:1778124 semapv:UnspecifiedMatching MONDO:8000006 WHIM syndrome 1 skos:exactMatch OMIM:193670 whim syndrome 1 semapv:UnspecifiedMatching MONDO:8000006 WHIM syndrome 1 skos:exactMatch Orphanet:51636 WHIM syndrome semapv:UnspecifiedMatching MONDO:8000006 WHIM syndrome 1 skos:exactMatch SCTID:234571003 semapv:UnspecifiedMatching MONDO:8000006 WHIM syndrome 1 skos:exactMatch UMLS:C5542296 semapv:UnspecifiedMatching MONDO:8000006 WHIM syndrome 1 skos:exactMatch mesh:C536697 semapv:UnspecifiedMatching MONDO:8000008 Martsolf syndrome 1 skos:exactMatch DOID:0111586 Martsolf syndrome semapv:UnspecifiedMatching MONDO:8000008 Martsolf syndrome 1 skos:exactMatch MEDGEN:1778114 semapv:UnspecifiedMatching MONDO:8000008 Martsolf syndrome 1 skos:exactMatch OMIM:212720 martsolf syndrome 1 semapv:UnspecifiedMatching MONDO:8000008 Martsolf syndrome 1 skos:exactMatch Orphanet:1387 Cataract-intellectual disability-hypogonadism syndrome semapv:UnspecifiedMatching MONDO:8000008 Martsolf syndrome 1 skos:exactMatch SCTID:722380003 semapv:UnspecifiedMatching MONDO:8000008 Martsolf syndrome 1 skos:exactMatch UMLS:C5542298 semapv:UnspecifiedMatching MONDO:8000008 Martsolf syndrome 1 skos:exactMatch mesh:C536028 semapv:UnspecifiedMatching MONDO:8000010 antiphospholipid syndrome skos:exactMatch DOID:2988 antiphospholipid syndrome semapv:UnspecifiedMatching MONDO:8000010 antiphospholipid syndrome skos:exactMatch EFO:0002689 semapv:UnspecifiedMatching MONDO:8000010 antiphospholipid syndrome skos:exactMatch ICD10CM:D68.61 Antiphospholipid syndrome semapv:UnspecifiedMatching MONDO:8000010 antiphospholipid syndrome skos:exactMatch MEDGEN:38834 semapv:UnspecifiedMatching MONDO:8000010 antiphospholipid syndrome skos:exactMatch NCIT:C61283 Antiphospholipid Syndrome semapv:UnspecifiedMatching MONDO:8000010 antiphospholipid syndrome skos:exactMatch Orphanet:80 Antiphospholipid syndrome semapv:UnspecifiedMatching MONDO:8000010 antiphospholipid syndrome skos:exactMatch SCTID:26843008 semapv:UnspecifiedMatching MONDO:8000010 antiphospholipid syndrome skos:exactMatch UMLS:C0085278 semapv:UnspecifiedMatching MONDO:8000010 antiphospholipid syndrome skos:exactMatch icd11.foundation:1173370808 Antiphospholipid syndrome semapv:UnspecifiedMatching MONDO:8000010 antiphospholipid syndrome skos:exactMatch mesh:D016736 semapv:UnspecifiedMatching MONDO:8000011 visceral neuropathy, familial, 1, autosomal recessive skos:exactMatch DOID:0080679 neuronal intestinal dysplasia type A semapv:UnspecifiedMatching MONDO:8000011 visceral neuropathy, familial, 1, autosomal recessive skos:exactMatch MEDGEN:340946 semapv:UnspecifiedMatching MONDO:8000011 visceral neuropathy, familial, 1, autosomal recessive skos:exactMatch OMIM:243180 visceral neuropathy, familial, 1, autosomal recessive semapv:UnspecifiedMatching MONDO:8000011 visceral neuropathy, familial, 1, autosomal recessive skos:exactMatch Orphanet:99811 Neuronal intestinal pseudoobstruction semapv:UnspecifiedMatching MONDO:8000011 visceral neuropathy, familial, 1, autosomal recessive skos:exactMatch UMLS:C1855733 semapv:UnspecifiedMatching MONDO:8000011 visceral neuropathy, familial, 1, autosomal recessive skos:exactMatch mesh:C537394 semapv:UnspecifiedMatching MONDO:8000012 neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 skos:exactMatch MEDGEN:864165 semapv:UnspecifiedMatching MONDO:8000012 neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 skos:exactMatch OMIM:616263 neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 semapv:UnspecifiedMatching MONDO:8000012 neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 skos:exactMatch Orphanet:456312 Infantile multisystem neurologic-endocrine-pancreatic disease semapv:UnspecifiedMatching MONDO:8000012 neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 skos:exactMatch UMLS:C4015728 semapv:UnspecifiedMatching MONDO:8000013 portal hypertension, noncirrhotic, 1 skos:exactMatch OMIM:617068 portal hypertension, noncirrhotic, 1 semapv:UnspecifiedMatching MONDO:8000014 familial antiphospholipid syndrome skos:exactMatch MEDGEN:419641 semapv:UnspecifiedMatching MONDO:8000014 familial antiphospholipid syndrome skos:exactMatch OMIM:107320 antiphospholipid syndrome, familial semapv:UnspecifiedMatching MONDO:8000014 familial antiphospholipid syndrome skos:exactMatch UMLS:C2930802 semapv:UnspecifiedMatching MONDO:8000014 familial antiphospholipid syndrome skos:exactMatch mesh:C531622 semapv:UnspecifiedMatching MONDO:8000015 46,XY sex reversal 11 skos:exactMatch MEDGEN:78602 semapv:UnspecifiedMatching MONDO:8000015 46,XY sex reversal 11 skos:exactMatch OMIM:273250 46,xy sex reversal 11 semapv:UnspecifiedMatching MONDO:8000015 46,XY sex reversal 11 skos:exactMatch Orphanet:983 Testicular regression syndrome semapv:UnspecifiedMatching MONDO:8000015 46,XY sex reversal 11 skos:exactMatch SCTID:53599007 semapv:UnspecifiedMatching MONDO:8000015 46,XY sex reversal 11 skos:exactMatch UMLS:C0266427 semapv:UnspecifiedMatching MONDO:8000015 46,XY sex reversal 11 skos:exactMatch mesh:C537770 semapv:UnspecifiedMatching MONDO:8000018 benign paroxysmal positional vertigo skos:exactMatch DOID:13941 benign paroxysmal positional vertigo semapv:UnspecifiedMatching MONDO:8000018 benign paroxysmal positional vertigo skos:exactMatch MEDGEN:57837 semapv:UnspecifiedMatching MONDO:8000018 benign paroxysmal positional vertigo skos:exactMatch OMIM:193007 vertigo, benign recurrent semapv:UnspecifiedMatching MONDO:8000018 benign paroxysmal positional vertigo skos:exactMatch SCTID:111541001 semapv:UnspecifiedMatching MONDO:8000018 benign paroxysmal positional vertigo skos:exactMatch UMLS:C0155502 semapv:UnspecifiedMatching MONDO:8000018 benign paroxysmal positional vertigo skos:exactMatch mesh:D065635 semapv:UnspecifiedMatching MONDO:8000019 vertigo, benign recurrent, 1 skos:exactMatch MEDGEN:412807 semapv:UnspecifiedMatching MONDO:8000019 vertigo, benign recurrent, 1 skos:exactMatch UMLS:C2749845 semapv:UnspecifiedMatching MONDO:8000019 vertigo, benign recurrent, 1 skos:exactMatch mesh:C567620 semapv:UnspecifiedMatching MONDO:8000023 type 3 autoimmune lymphoproliferative syndrome skos:exactMatch MEDGEN:274327 semapv:UnspecifiedMatching MONDO:8000023 type 3 autoimmune lymphoproliferative syndrome skos:exactMatch NCIT:C39577 Autoimmune Lymphoproliferative Syndrome-Unknown Underlying Mutation semapv:UnspecifiedMatching MONDO:8000023 type 3 autoimmune lymphoproliferative syndrome skos:exactMatch UMLS:C1519711 semapv:UnspecifiedMatching MONDO:8000024 autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD skos:exactMatch DOID:0110119 autoimmune lymphoproliferative syndrome type 3 semapv:UnspecifiedMatching MONDO:8000024 autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD skos:exactMatch MEDGEN:816258 semapv:UnspecifiedMatching MONDO:8000024 autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD skos:exactMatch OMIM:615559 autoimmune lymphoproliferative syndrome, type 3 semapv:UnspecifiedMatching MONDO:8000024 autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD skos:exactMatch Orphanet:664711 EBV-induced lymphoproliferative disease due to PRKCD deficiency semapv:UnspecifiedMatching MONDO:8000024 autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD skos:exactMatch UMLS:C3809928 semapv:UnspecifiedMatching MONDO:8000030 obsolete morphological anomaly skos:exactMatch Orphanet:377791 morphological anomaly semapv:UnspecifiedMatching MONDO:8000031 obsolete subtype of a disorder skos:exactMatch Orphanet:557494 subtype of a disorder semapv:UnspecifiedMatching MONDO:8000032 obsolete malformation syndrome skos:exactMatch Orphanet:377789 malformation syndrome semapv:UnspecifiedMatching MONDO:8000033 obsolete group of disorders skos:exactMatch Orphanet:557492 group of disorders semapv:UnspecifiedMatching MONDO:8000034 obsolete disorder skos:exactMatch Orphanet:557493 disorder semapv:UnspecifiedMatching